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Items: 1 to 20 of 371

1.

rs1486111165 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    18:37253837 (GRCh38)
    18:34833800 (GRCh37)
    Canonical SPDI:
    NC_000018.10:37253836:G:A,NC_000018.10:37253836:G:C
    Gene:
    CELF4 (Varview)
    Functional Consequence:
    missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000031/1 (ALFA)
    A=0.000008/2 (GnomAD_exomes)
    HGVS:
    NC_000018.10:g.37253837G>A, NC_000018.10:g.37253837G>C, NC_000018.9:g.34833800G>A, NC_000018.9:g.34833800G>C, NM_020180.4:c.1435C>T, NM_020180.4:c.1435C>G, NM_020180.3:c.1435C>T, NM_020180.3:c.1435C>G, NM_001353740.2:c.1514C>T, NM_001353740.2:c.1514C>G, NM_001353740.1:c.1514C>T, NM_001353740.1:c.1514C>G, NM_001353749.2:c.1511C>T, NM_001353749.2:c.1511C>G, NM_001353749.1:c.1511C>T, NM_001353749.1:c.1511C>G, NM_001353735.2:c.1481C>T, NM_001353735.2:c.1481C>G, NM_001353735.1:c.1481C>T, NM_001353735.1:c.1481C>G, NM_001353733.2:c.1472C>T, NM_001353733.2:c.1472C>G, NM_001353733.1:c.1472C>T, NM_001353733.1:c.1472C>G, NR_148527.2:n.1592C>T, NR_148527.2:n.1592C>G, NR_148527.1:n.1831C>T, NR_148527.1:n.1831C>G, NR_148528.2:n.1589C>T, NR_148528.2:n.1589C>G, NR_148528.1:n.1828C>T, NR_148528.1:n.1828C>G, NR_148526.2:n.1589C>T, NR_148526.2:n.1589C>G, NR_148526.1:n.1828C>T, NR_148526.1:n.1828C>G, NR_148521.2:n.1589C>T, NR_148521.2:n.1589C>G, NR_148521.1:n.1828C>T, NR_148521.1:n.1828C>G, NR_148520.2:n.1586C>T, NR_148520.2:n.1586C>G, NR_148520.1:n.1825C>T, NR_148520.1:n.1825C>G, NM_001353734.2:c.1514C>T, NM_001353734.2:c.1514C>G, NM_001353734.1:c.1514C>T, NM_001353734.1:c.1514C>G, NM_001353746.2:c.1511C>T, NM_001353746.2:c.1511C>G, NM_001353746.1:c.1511C>T, NM_001353746.1:c.1511C>G, NM_001353731.2:c.1511C>T, NM_001353731.2:c.1511C>G, NM_001353731.1:c.1511C>T, NM_001353731.1:c.1511C>G, NR_148523.2:n.1562C>T, NR_148523.2:n.1562C>G, NR_148523.1:n.1801C>T, NR_148523.1:n.1801C>G, NM_001353742.2:c.1489C>T, NM_001353742.2:c.1489C>G, NM_001353742.1:c.1489C>T, NM_001353742.1:c.1489C>G, NR_148525.2:n.1559C>T, NR_148525.2:n.1559C>G, NR_148525.1:n.1798C>T, NR_148525.1:n.1798C>G, NR_148524.2:n.1559C>T, NR_148524.2:n.1559C>G, NR_148524.1:n.1798C>T, NR_148524.1:n.1798C>G, NR_148522.2:n.1556C>T, NR_148522.2:n.1556C>G, NR_148522.1:n.1795C>T, NR_148522.1:n.1795C>G, NM_001353703.2:c.1484C>T, NM_001353703.2:c.1484C>G, NM_001353703.1:c.1484C>T, NM_001353703.1:c.1484C>G, NM_001353741.2:c.1481C>T, NM_001353741.2:c.1481C>G, NM_001353741.1:c.1481C>T, NM_001353741.1:c.1481C>G, NM_001353726.2:c.1481C>T, NM_001353726.2:c.1481C>G, NM_001353726.1:c.1481C>T, NM_001353726.1:c.1481C>G, NM_001353728.2:c.1478C>T, NM_001353728.2:c.1478C>G, NM_001353728.1:c.1478C>T, NM_001353728.1:c.1478C>G, NM_001353739.2:c.1475C>T, NM_001353739.2:c.1475C>G, NM_001353739.1:c.1475C>T, NM_001353739.1:c.1475C>G, NM_001353717.2:c.1465C>T, NM_001353717.2:c.1465C>G, NM_001353717.1:c.1465C>T, NM_001353717.1:c.1465C>G, NM_001353707.2:c.1462C>T, NM_001353707.2:c.1462C>G, NM_001353707.1:c.1462C>T, NM_001353707.1:c.1462C>G, NM_001353705.2:c.1456C>T, NM_001353705.2:c.1456C>G, NM_001353705.1:c.1456C>T, NM_001353705.1:c.1456C>G, NM_001353751.2:c.1432C>T, NM_001353751.2:c.1432C>G, NM_001353751.1:c.1432C>T, NM_001353751.1:c.1432C>G, NM_001353744.2:c.1432C>T, NM_001353744.2:c.1432C>G, NM_001353744.1:c.1432C>T, NM_001353744.1:c.1432C>G, NM_001353698.2:c.1432C>T, NM_001353698.2:c.1432C>G, NM_001353698.1:c.1432C>T, NM_001353698.1:c.1432C>G, NM_001025087.2:c.1432C>T, NM_001025087.2:c.1432C>G, NM_001025087.1:c.1432C>T, NM_001025087.1:c.1432C>G, NM_001353745.2:c.1429C>T, NM_001353745.2:c.1429C>G, NM_001353745.1:c.1429C>T, NM_001353745.1:c.1429C>G, NM_001353738.2:c.1429C>T, NM_001353738.2:c.1429C>G, NM_001353738.1:c.1429C>T, NM_001353738.1:c.1429C>G, NM_001353724.2:c.1429C>T, NM_001353724.2:c.1429C>G, NM_001353724.1:c.1429C>T, NM_001353724.1:c.1429C>G, NM_001330603.2:c.1429C>T, NM_001330603.2:c.1429C>G, NM_001330603.1:c.1429C>T, NM_001330603.1:c.1429C>G, NM_001025088.2:c.1429C>T, NM_001025088.2:c.1429C>G, NM_001025088.1:c.1429C>T, NM_001025088.1:c.1429C>G, NM_001353718.2:c.1426C>T, NM_001353718.2:c.1426C>G, NM_001353718.1:c.1426C>T, NM_001353718.1:c.1426C>G, NM_001353702.2:c.1426C>T, NM_001353702.2:c.1426C>G, NM_001353702.1:c.1426C>T, NM_001353702.1:c.1426C>G, NM_001353712.2:c.1423C>T, NM_001353712.2:c.1423C>G, NM_001353712.1:c.1423C>T, NM_001353712.1:c.1423C>G, NR_148518.2:n.1475C>T, NR_148518.2:n.1475C>G, NR_148518.1:n.1714C>T, NR_148518.1:n.1714C>G, NM_001353752.2:c.1402C>T, NM_001353752.2:c.1402C>G, NM_001353752.1:c.1402C>T, NM_001353752.1:c.1402C>G, NM_001353748.2:c.1402C>T, NM_001353748.2:c.1402C>G, NM_001353748.1:c.1402C>T, NM_001353748.1:c.1402C>G, NM_001353709.2:c.1402C>T, NM_001353709.2:c.1402C>G, NM_001353709.1:c.1402C>T, NM_001353709.1:c.1402C>G, NR_148519.2:n.1472C>T, NR_148519.2:n.1472C>G, NR_148519.1:n.1711C>T, NR_148519.1:n.1711C>G, NM_001353715.2:c.1400C>T, NM_001353715.2:c.1400C>G, NM_001353715.1:c.1400C>T, NM_001353715.1:c.1400C>G, NM_001353755.2:c.1399C>T, NM_001353755.2:c.1399C>G, NM_001353755.1:c.1399C>T, NM_001353755.1:c.1399C>G, NM_001353753.2:c.1399C>T, NM_001353753.2:c.1399C>G, NM_001353753.1:c.1399C>T, NM_001353753.1:c.1399C>G, NM_001353750.2:c.1399C>T, NM_001353750.2:c.1399C>G, NM_001353750.1:c.1399C>T, NM_001353750.1:c.1399C>G, NM_001353721.2:c.1399C>T, NM_001353721.2:c.1399C>G, NM_001353721.1:c.1399C>T, NM_001353721.1:c.1399C>G, NM_001353710.2:c.1399C>T, NM_001353710.2:c.1399C>G, NM_001353710.1:c.1399C>T, NM_001353710.1:c.1399C>G, NM_001353695.2:c.1399C>T, NM_001353695.2:c.1399C>G, NM_001353695.1:c.1399C>T, NM_001353695.1:c.1399C>G, NM_001353725.2:c.1396C>T, NM_001353725.2:c.1396C>G, NM_001353725.1:c.1396C>T, NM_001353725.1:c.1396C>G, NM_001353714.2:c.1396C>T, NM_001353714.2:c.1396C>G, NM_001353714.1:c.1396C>T, NM_001353714.1:c.1396C>G, NM_001353711.2:c.1396C>T, NM_001353711.2:c.1396C>G, NM_001353711.1:c.1396C>T, NM_001353711.1:c.1396C>G, NM_001353708.2:c.1351C>T, NM_001353708.2:c.1351C>G, NM_001353708.1:c.1351C>T, NM_001353708.1:c.1351C>G, NM_001353743.2:c.1348C>T, NM_001353743.2:c.1348C>G, NM_001353743.1:c.1348C>T, NM_001353743.1:c.1348C>G, NM_001353723.2:c.1348C>T, NM_001353723.2:c.1348C>G, NM_001353723.1:c.1348C>T, NM_001353723.1:c.1348C>G, NM_001353696.2:c.1348C>T, NM_001353696.2:c.1348C>G, NM_001353696.1:c.1348C>T, NM_001353696.1:c.1348C>G, NM_001353754.2:c.1345C>T, NM_001353754.2:c.1345C>G, NM_001353754.1:c.1345C>T, NM_001353754.1:c.1345C>G, NM_001353747.2:c.1345C>T, NM_001353747.2:c.1345C>G, NM_001353747.1:c.1345C>T, NM_001353747.1:c.1345C>G, NM_001353736.2:c.1345C>T, NM_001353736.2:c.1345C>G, NM_001353736.1:c.1345C>T, NM_001353736.1:c.1345C>G, NM_001353730.2:c.1345C>T, NM_001353730.2:c.1345C>G, NM_001353730.1:c.1345C>T, NM_001353730.1:c.1345C>G, NM_001353729.2:c.1345C>T, NM_001353729.2:c.1345C>G, NM_001353729.1:c.1345C>T, NM_001353729.1:c.1345C>G, NM_001353737.2:c.1342C>T, NM_001353737.2:c.1342C>G, NM_001353737.1:c.1342C>T, NM_001353737.1:c.1342C>G, NM_001353716.2:c.1342C>T, NM_001353716.2:c.1342C>G, NM_001353716.1:c.1342C>T, NM_001353716.1:c.1342C>G, NM_001025089.2:c.1321C>T, NM_001025089.2:c.1321C>G, NM_001025089.1:c.1321C>T, NM_001025089.1:c.1321C>G, NM_001353719.2:c.1318C>T, NM_001353719.2:c.1318C>G, NM_001353719.1:c.1318C>T, NM_001353719.1:c.1318C>G, NM_001353713.2:c.1318C>T, NM_001353713.2:c.1318C>G, NM_001353713.1:c.1318C>T, NM_001353713.1:c.1318C>G, NM_001353700.2:c.1318C>T, NM_001353700.2:c.1318C>G, NM_001353700.1:c.1318C>T, NM_001353700.1:c.1318C>G, NM_001353697.2:c.1318C>T, NM_001353697.2:c.1318C>G, NM_001353697.1:c.1318C>T, NM_001353697.1:c.1318C>G, NM_001353732.2:c.1315C>T, NM_001353732.2:c.1315C>G, NM_001353732.1:c.1315C>T, NM_001353732.1:c.1315C>G, NM_001353727.2:c.1315C>T, NM_001353727.2:c.1315C>G, NM_001353727.1:c.1315C>T, NM_001353727.1:c.1315C>G, NM_001353720.2:c.1315C>T, NM_001353720.2:c.1315C>G, NM_001353720.1:c.1315C>T, NM_001353720.1:c.1315C>G, NM_001353706.2:c.1315C>T, NM_001353706.2:c.1315C>G, NM_001353706.1:c.1315C>T, NM_001353706.1:c.1315C>G, NM_001353699.2:c.1315C>T, NM_001353699.2:c.1315C>G, NM_001353699.1:c.1315C>T, NM_001353699.1:c.1315C>G, NM_001353722.2:c.1312C>T, NM_001353722.2:c.1312C>G, NM_001353722.1:c.1312C>T, NM_001353722.1:c.1312C>G, NM_001353756.2:c.1063C>T, NM_001353756.2:c.1063C>G, NM_001353756.1:c.1063C>T, NM_001353756.1:c.1063C>G, NM_001353761.2:c.1060C>T, NM_001353761.2:c.1060C>G, NM_001353761.1:c.1060C>T, NM_001353761.1:c.1060C>G, NM_001353757.2:c.1036C>T, NM_001353757.2:c.1036C>G, NM_001353757.1:c.1036C>T, NM_001353757.1:c.1036C>G, NM_001353760.2:c.1033C>T, NM_001353760.2:c.1033C>G, NM_001353760.1:c.1033C>T, NM_001353760.1:c.1033C>G, NM_001353759.2:c.1033C>T, NM_001353759.2:c.1033C>G, NM_001353759.1:c.1033C>T, NM_001353759.1:c.1033C>G, NM_001353758.2:c.949C>T, NM_001353758.2:c.949C>G, NM_001353758.1:c.949C>T, NM_001353758.1:c.949C>G, XM_047437628.1:c.1514C>T, XM_047437628.1:c.1514C>G, XM_047437629.1:c.1511C>T, XM_047437629.1:c.1511C>G, XM_047437632.1:c.1495C>T, XM_047437632.1:c.1495C>G, XM_047437633.1:c.1492C>T, XM_047437633.1:c.1492C>G, XM_047437635.1:c.1489C>T, XM_047437635.1:c.1489C>G, XM_047437634.1:c.1489C>T, XM_047437634.1:c.1489C>G, XM_047437630.1:c.1484C>T, XM_047437630.1:c.1484C>G, XM_047437631.1:c.1481C>T, XM_047437631.1:c.1481C>G, XM_047437636.1:c.1465C>T, XM_047437636.1:c.1465C>G, XM_047437637.1:c.1462C>T, XM_047437637.1:c.1462C>G, XM_047437669.1:c.1459C>T, XM_047437669.1:c.1459C>G, XM_047437638.1:c.1459C>T, XM_047437638.1:c.1459C>G, XM_047437671.1:c.1456C>T, XM_047437671.1:c.1456C>G, XM_047437639.1:c.1435C>T, XM_047437639.1:c.1435C>G, XM_047437642.1:c.1432C>T, XM_047437642.1:c.1432C>G, XM_047437641.1:c.1432C>T, XM_047437641.1:c.1432C>G, XM_047437640.1:c.1432C>T, XM_047437640.1:c.1432C>G, XM_047437645.1:c.1429C>T, XM_047437645.1:c.1429C>G, XM_047437644.1:c.1429C>T, XM_047437644.1:c.1429C>G, XM_047437643.1:c.1429C>T, XM_047437643.1:c.1429C>G, XM_047437646.1:c.1426C>T, XM_047437646.1:c.1426C>G, XM_047437653.1:c.1405C>T, XM_047437653.1:c.1405C>G, XM_047437670.1:c.1402C>T, XM_047437670.1:c.1402C>G, XM_047437648.1:c.1402C>T, XM_047437648.1:c.1402C>G, XM_047437647.1:c.1402C>T, XM_047437647.1:c.1402C>G, XM_047437651.1:c.1399C>T, XM_047437651.1:c.1399C>G, XM_047437650.1:c.1399C>T, XM_047437650.1:c.1399C>G, XM_047437649.1:c.1399C>T, XM_047437649.1:c.1399C>G, XM_047437652.1:c.1396C>T, XM_047437652.1:c.1396C>G, XM_047437654.1:c.1351C>T, XM_047437654.1:c.1351C>G, XM_047437657.1:c.1348C>T, XM_047437657.1:c.1348C>G, XM_047437656.1:c.1348C>T, XM_047437656.1:c.1348C>G, XM_047437655.1:c.1348C>T, XM_047437655.1:c.1348C>G, XM_047437660.1:c.1345C>T, XM_047437660.1:c.1345C>G, XM_047437659.1:c.1345C>T, XM_047437659.1:c.1345C>G, XM_047437658.1:c.1345C>T, XM_047437658.1:c.1345C>G, XM_047437661.1:c.1342C>T, XM_047437661.1:c.1342C>G, XM_047437662.1:c.1321C>T, XM_047437662.1:c.1321C>G, XM_047437665.1:c.1318C>T, XM_047437665.1:c.1318C>G, XM_047437664.1:c.1318C>T, XM_047437664.1:c.1318C>G, XM_047437663.1:c.1318C>T, XM_047437663.1:c.1318C>G, XM_047437668.1:c.1315C>T, XM_047437668.1:c.1315C>G, XM_047437667.1:c.1315C>T, XM_047437667.1:c.1315C>G, XM_047437666.1:c.1315C>T, XM_047437666.1:c.1315C>G, NP_064565.1:p.Pro479Ser, NP_064565.1:p.Pro479Ala, NP_001340669.1:p.Ala505Val, NP_001340669.1:p.Ala505Gly, NP_001340678.1:p.Ala504Val, NP_001340678.1:p.Ala504Gly, NP_001340664.1:p.Ala494Val, NP_001340664.1:p.Ala494Gly, NP_001340662.1:p.Ala491Val, NP_001340662.1:p.Ala491Gly, NP_001340663.1:p.Ala505Val, NP_001340663.1:p.Ala505Gly, NP_001340675.1:p.Ala504Val, NP_001340675.1:p.Ala504Gly, NP_001340660.1:p.Ala504Val, NP_001340660.1:p.Ala504Gly, NP_001340671.1:p.Pro497Ser, NP_001340671.1:p.Pro497Ala, NP_001340632.1:p.Ala495Val, NP_001340632.1:p.Ala495Gly, NP_001340670.1:p.Ala494Val, NP_001340670.1:p.Ala494Gly, NP_001340655.1:p.Ala494Val, NP_001340655.1:p.Ala494Gly, NP_001340657.1:p.Ala493Val, NP_001340657.1:p.Ala493Gly, NP_001340668.1:p.Ala492Val, NP_001340668.1:p.Ala492Gly, NP_001340646.1:p.Pro489Ser, NP_001340646.1:p.Pro489Ala, NP_001340636.1:p.Pro488Ser, NP_001340636.1:p.Pro488Ala, NP_001340634.1:p.Pro486Ser, NP_001340634.1:p.Pro486Ala, NP_001340680.1:p.Pro478Ser, NP_001340680.1:p.Pro478Ala, NP_001340673.1:p.Pro478Ser, NP_001340673.1:p.Pro478Ala, NP_001340627.1:p.Pro478Ser, NP_001340627.1:p.Pro478Ala, NP_001020258.1:p.Pro478Ser, NP_001020258.1:p.Pro478Ala, NP_001340674.1:p.Pro477Ser, NP_001340674.1:p.Pro477Ala, NP_001340667.1:p.Pro477Ser, NP_001340667.1:p.Pro477Ala, NP_001340653.1:p.Pro477Ser, NP_001340653.1:p.Pro477Ala, NP_001317532.1:p.Pro477Ser, NP_001317532.1:p.Pro477Ala, NP_001020259.1:p.Pro477Ser, NP_001020259.1:p.Pro477Ala, NP_001340647.1:p.Pro476Ser, NP_001340647.1:p.Pro476Ala, NP_001340631.1:p.Pro476Ser, NP_001340631.1:p.Pro476Ala, NP_001340641.1:p.Pro475Ser, NP_001340641.1:p.Pro475Ala, NP_001340681.1:p.Pro468Ser, NP_001340681.1:p.Pro468Ala, NP_001340677.1:p.Pro468Ser, NP_001340677.1:p.Pro468Ala, NP_001340638.1:p.Pro468Ser, NP_001340638.1:p.Pro468Ala, NP_001340644.1:p.Ala467Val, NP_001340644.1:p.Ala467Gly, NP_001340684.1:p.Pro467Ser, NP_001340684.1:p.Pro467Ala, NP_001340682.1:p.Pro467Ser, NP_001340682.1:p.Pro467Ala, NP_001340679.1:p.Pro467Ser, NP_001340679.1:p.Pro467Ala, NP_001340650.1:p.Pro467Ser, NP_001340650.1:p.Pro467Ala, NP_001340639.1:p.Pro467Ser, NP_001340639.1:p.Pro467Ala, NP_001340624.1:p.Pro467Ser, NP_001340624.1:p.Pro467Ala, NP_001340654.1:p.Pro466Ser, NP_001340654.1:p.Pro466Ala, NP_001340643.1:p.Pro466Ser, NP_001340643.1:p.Pro466Ala, NP_001340640.1:p.Pro466Ser, NP_001340640.1:p.Pro466Ala, NP_001340637.1:p.Pro451Ser, NP_001340637.1:p.Pro451Ala, NP_001340672.1:p.Pro450Ser, NP_001340672.1:p.Pro450Ala, NP_001340652.1:p.Pro450Ser, NP_001340652.1:p.Pro450Ala, NP_001340625.1:p.Pro450Ser, NP_001340625.1:p.Pro450Ala, NP_001340683.1:p.Pro449Ser, NP_001340683.1:p.Pro449Ala, NP_001340676.1:p.Pro449Ser, NP_001340676.1:p.Pro449Ala, NP_001340665.1:p.Pro449Ser, NP_001340665.1:p.Pro449Ala, NP_001340659.1:p.Pro449Ser, NP_001340659.1:p.Pro449Ala, NP_001340658.1:p.Pro449Ser, NP_001340658.1:p.Pro449Ala, NP_001340666.1:p.Pro448Ser, NP_001340666.1:p.Pro448Ala, NP_001340645.1:p.Pro448Ser, NP_001340645.1:p.Pro448Ala, NP_001020260.1:p.Pro441Ser, NP_001020260.1:p.Pro441Ala, NP_001340648.1:p.Pro440Ser, NP_001340648.1:p.Pro440Ala, NP_001340642.1:p.Pro440Ser, NP_001340642.1:p.Pro440Ala, NP_001340629.1:p.Pro440Ser, NP_001340629.1:p.Pro440Ala, NP_001340626.1:p.Pro440Ser, NP_001340626.1:p.Pro440Ala, NP_001340661.1:p.Pro439Ser, NP_001340661.1:p.Pro439Ala, NP_001340656.1:p.Pro439Ser, NP_001340656.1:p.Pro439Ala, NP_001340649.1:p.Pro439Ser, NP_001340649.1:p.Pro439Ala, NP_001340635.1:p.Pro439Ser, NP_001340635.1:p.Pro439Ala, NP_001340628.1:p.Pro439Ser, NP_001340628.1:p.Pro439Ala, NP_001340651.1:p.Pro438Ser, NP_001340651.1:p.Pro438Ala, NP_001340685.1:p.Pro355Ser, NP_001340685.1:p.Pro355Ala, NP_001340690.1:p.Pro354Ser, NP_001340690.1:p.Pro354Ala, NP_001340686.1:p.Pro346Ser, NP_001340686.1:p.Pro346Ala, NP_001340689.1:p.Pro345Ser, NP_001340689.1:p.Pro345Ala, NP_001340688.1:p.Pro345Ser, NP_001340688.1:p.Pro345Ala, NP_001340687.1:p.Pro317Ser, NP_001340687.1:p.Pro317Ala, XP_047293584.1:p.Ala505Val, XP_047293584.1:p.Ala505Gly, XP_047293585.1:p.Ala504Val, XP_047293585.1:p.Ala504Gly, XP_047293588.1:p.Pro499Ser, XP_047293588.1:p.Pro499Ala, XP_047293589.1:p.Pro498Ser, XP_047293589.1:p.Pro498Ala, XP_047293591.1:p.Pro497Ser, XP_047293591.1:p.Pro497Ala, XP_047293590.1:p.Pro497Ser, XP_047293590.1:p.Pro497Ala, XP_047293586.1:p.Ala495Val, XP_047293586.1:p.Ala495Gly, XP_047293587.1:p.Ala494Val, XP_047293587.1:p.Ala494Gly, XP_047293592.1:p.Pro489Ser, XP_047293592.1:p.Pro489Ala, XP_047293593.1:p.Pro488Ser, XP_047293593.1:p.Pro488Ala, XP_047293625.1:p.Pro487Ser, XP_047293625.1:p.Pro487Ala, XP_047293594.1:p.Pro487Ser, XP_047293594.1:p.Pro487Ala, XP_047293627.1:p.Pro486Ser, XP_047293627.1:p.Pro486Ala, XP_047293595.1:p.Pro479Ser, XP_047293595.1:p.Pro479Ala, XP_047293598.1:p.Pro478Ser, XP_047293598.1:p.Pro478Ala, XP_047293597.1:p.Pro478Ser, XP_047293597.1:p.Pro478Ala, XP_047293596.1:p.Pro478Ser, XP_047293596.1:p.Pro478Ala, XP_047293601.1:p.Pro477Ser, XP_047293601.1:p.Pro477Ala, XP_047293600.1:p.Pro477Ser, XP_047293600.1:p.Pro477Ala, XP_047293599.1:p.Pro477Ser, XP_047293599.1:p.Pro477Ala, XP_047293602.1:p.Pro476Ser, XP_047293602.1:p.Pro476Ala, XP_047293609.1:p.Pro469Ser, XP_047293609.1:p.Pro469Ala, XP_047293626.1:p.Pro468Ser, XP_047293626.1:p.Pro468Ala, XP_047293604.1:p.Pro468Ser, XP_047293604.1:p.Pro468Ala, XP_047293603.1:p.Pro468Ser, XP_047293603.1:p.Pro468Ala, XP_047293607.1:p.Pro467Ser, XP_047293607.1:p.Pro467Ala, XP_047293606.1:p.Pro467Ser, XP_047293606.1:p.Pro467Ala, XP_047293605.1:p.Pro467Ser, XP_047293605.1:p.Pro467Ala, XP_047293608.1:p.Pro466Ser, XP_047293608.1:p.Pro466Ala, XP_047293610.1:p.Pro451Ser, XP_047293610.1:p.Pro451Ala, XP_047293613.1:p.Pro450Ser, XP_047293613.1:p.Pro450Ala, XP_047293612.1:p.Pro450Ser, XP_047293612.1:p.Pro450Ala, XP_047293611.1:p.Pro450Ser, XP_047293611.1:p.Pro450Ala, XP_047293616.1:p.Pro449Ser, XP_047293616.1:p.Pro449Ala, XP_047293615.1:p.Pro449Ser, XP_047293615.1:p.Pro449Ala, XP_047293614.1:p.Pro449Ser, XP_047293614.1:p.Pro449Ala, XP_047293617.1:p.Pro448Ser, XP_047293617.1:p.Pro448Ala, XP_047293618.1:p.Pro441Ser, XP_047293618.1:p.Pro441Ala, XP_047293621.1:p.Pro440Ser, XP_047293621.1:p.Pro440Ala, XP_047293620.1:p.Pro440Ser, XP_047293620.1:p.Pro440Ala, XP_047293619.1:p.Pro440Ser, XP_047293619.1:p.Pro440Ala, XP_047293624.1:p.Pro439Ser, XP_047293624.1:p.Pro439Ala, XP_047293623.1:p.Pro439Ser, XP_047293623.1:p.Pro439Ala, XP_047293622.1:p.Pro439Ser, XP_047293622.1:p.Pro439Ala

    2.

    rs1486061091 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C,T [Show Flanks]
      Chromosome:
      18:37266576 (GRCh38)
      18:34846539 (GRCh37)
      Canonical SPDI:
      NC_000018.10:37266575:G:A,NC_000018.10:37266575:G:C,NC_000018.10:37266575:G:T
      Gene:
      CELF4 (Varview)
      Functional Consequence:
      missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      C=0.000005/1 (GnomAD_exomes)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000018.10:g.37266576G>A, NC_000018.10:g.37266576G>C, NC_000018.10:g.37266576G>T, NC_000018.9:g.34846539G>A, NC_000018.9:g.34846539G>C, NC_000018.9:g.34846539G>T, NM_020180.4:c.1122C>T, NM_020180.4:c.1122C>G, NM_020180.4:c.1122C>A, NM_020180.3:c.1122C>T, NM_020180.3:c.1122C>G, NM_020180.3:c.1122C>A, NM_001353740.2:c.1122C>T, NM_001353740.2:c.1122C>G, NM_001353740.2:c.1122C>A, NM_001353740.1:c.1122C>T, NM_001353740.1:c.1122C>G, NM_001353740.1:c.1122C>A, NM_001353749.2:c.1119C>T, NM_001353749.2:c.1119C>G, NM_001353749.2:c.1119C>A, NM_001353749.1:c.1119C>T, NM_001353749.1:c.1119C>G, NM_001353749.1:c.1119C>A, NM_001353735.2:c.1089C>T, NM_001353735.2:c.1089C>G, NM_001353735.2:c.1089C>A, NM_001353735.1:c.1089C>T, NM_001353735.1:c.1089C>G, NM_001353735.1:c.1089C>A, NM_001353733.2:c.1086C>T, NM_001353733.2:c.1086C>G, NM_001353733.2:c.1086C>A, NM_001353733.1:c.1086C>T, NM_001353733.1:c.1086C>G, NM_001353733.1:c.1086C>A, NR_148527.2:n.1279C>T, NR_148527.2:n.1279C>G, NR_148527.2:n.1279C>A, NR_148527.1:n.1518C>T, NR_148527.1:n.1518C>G, NR_148527.1:n.1518C>A, NR_148528.2:n.1276C>T, NR_148528.2:n.1276C>G, NR_148528.2:n.1276C>A, NR_148528.1:n.1515C>T, NR_148528.1:n.1515C>G, NR_148528.1:n.1515C>A, NR_148526.2:n.1276C>T, NR_148526.2:n.1276C>G, NR_148526.2:n.1276C>A, NR_148526.1:n.1515C>T, NR_148526.1:n.1515C>G, NR_148526.1:n.1515C>A, NR_148521.2:n.1279C>T, NR_148521.2:n.1279C>G, NR_148521.2:n.1279C>A, NR_148521.1:n.1518C>T, NR_148521.1:n.1518C>G, NR_148521.1:n.1518C>A, NR_148520.2:n.1276C>T, NR_148520.2:n.1276C>G, NR_148520.2:n.1276C>A, NR_148520.1:n.1515C>T, NR_148520.1:n.1515C>G, NR_148520.1:n.1515C>A, NM_001353734.2:c.1122C>T, NM_001353734.2:c.1122C>G, NM_001353734.2:c.1122C>A, NM_001353734.1:c.1122C>T, NM_001353734.1:c.1122C>G, NM_001353734.1:c.1122C>A, NM_001353746.2:c.1119C>T, NM_001353746.2:c.1119C>G, NM_001353746.2:c.1119C>A, NM_001353746.1:c.1119C>T, NM_001353746.1:c.1119C>G, NM_001353746.1:c.1119C>A, NM_001353731.2:c.1122C>T, NM_001353731.2:c.1122C>G, NM_001353731.2:c.1122C>A, NM_001353731.1:c.1122C>T, NM_001353731.1:c.1122C>G, NM_001353731.1:c.1122C>A, NR_148523.2:n.1249C>T, NR_148523.2:n.1249C>G, NR_148523.2:n.1249C>A, NR_148523.1:n.1488C>T, NR_148523.1:n.1488C>G, NR_148523.1:n.1488C>A, NM_001353742.2:c.1119C>T, NM_001353742.2:c.1119C>G, NM_001353742.2:c.1119C>A, NM_001353742.1:c.1119C>T, NM_001353742.1:c.1119C>G, NM_001353742.1:c.1119C>A, NR_148525.2:n.1246C>T, NR_148525.2:n.1246C>G, NR_148525.2:n.1246C>A, NR_148525.1:n.1485C>T, NR_148525.1:n.1485C>G, NR_148525.1:n.1485C>A, NR_148524.2:n.1246C>T, NR_148524.2:n.1246C>G, NR_148524.2:n.1246C>A, NR_148524.1:n.1485C>T, NR_148524.1:n.1485C>G, NR_148524.1:n.1485C>A, NR_148522.2:n.1243C>T, NR_148522.2:n.1243C>G, NR_148522.2:n.1243C>A, NR_148522.1:n.1482C>T, NR_148522.1:n.1482C>G, NR_148522.1:n.1482C>A, NM_001353703.2:c.1092C>T, NM_001353703.2:c.1092C>G, NM_001353703.2:c.1092C>A, NM_001353703.1:c.1092C>T, NM_001353703.1:c.1092C>G, NM_001353703.1:c.1092C>A, NM_001353741.2:c.1089C>T, NM_001353741.2:c.1089C>G, NM_001353741.2:c.1089C>A, NM_001353741.1:c.1089C>T, NM_001353741.1:c.1089C>G, NM_001353741.1:c.1089C>A, NM_001353726.2:c.1089C>T, NM_001353726.2:c.1089C>G, NM_001353726.2:c.1089C>A, NM_001353726.1:c.1089C>T, NM_001353726.1:c.1089C>G, NM_001353726.1:c.1089C>A, NM_001353728.2:c.1089C>T, NM_001353728.2:c.1089C>G, NM_001353728.2:c.1089C>A, NM_001353728.1:c.1089C>T, NM_001353728.1:c.1089C>G, NM_001353728.1:c.1089C>A, NM_001353739.2:c.1086C>T, NM_001353739.2:c.1086C>G, NM_001353739.2:c.1086C>A, NM_001353739.1:c.1086C>T, NM_001353739.1:c.1086C>G, NM_001353739.1:c.1086C>A, NM_001353717.2:c.1092C>T, NM_001353717.2:c.1092C>G, NM_001353717.2:c.1092C>A, NM_001353717.1:c.1092C>T, NM_001353717.1:c.1092C>G, NM_001353717.1:c.1092C>A, NM_001353707.2:c.1089C>T, NM_001353707.2:c.1089C>G, NM_001353707.2:c.1089C>A, NM_001353707.1:c.1089C>T, NM_001353707.1:c.1089C>G, NM_001353707.1:c.1089C>A, NM_001353705.2:c.1086C>T, NM_001353705.2:c.1086C>G, NM_001353705.2:c.1086C>A, NM_001353705.1:c.1086C>T, NM_001353705.1:c.1086C>G, NM_001353705.1:c.1086C>A, NM_001353751.2:c.1122C>T, NM_001353751.2:c.1122C>G, NM_001353751.2:c.1122C>A, NM_001353751.1:c.1122C>T, NM_001353751.1:c.1122C>G, NM_001353751.1:c.1122C>A, NM_001353744.2:c.1122C>T, NM_001353744.2:c.1122C>G, NM_001353744.2:c.1122C>A, NM_001353744.1:c.1122C>T, NM_001353744.1:c.1122C>G, NM_001353744.1:c.1122C>A, NM_001353698.2:c.1119C>T, NM_001353698.2:c.1119C>G, NM_001353698.2:c.1119C>A, NM_001353698.1:c.1119C>T, NM_001353698.1:c.1119C>G, NM_001353698.1:c.1119C>A, NM_001025087.2:c.1119C>T, NM_001025087.2:c.1119C>G, NM_001025087.2:c.1119C>A, NM_001025087.1:c.1119C>T, NM_001025087.1:c.1119C>G, NM_001025087.1:c.1119C>A, NM_001353745.2:c.1119C>T, NM_001353745.2:c.1119C>G, NM_001353745.2:c.1119C>A, NM_001353745.1:c.1119C>T, NM_001353745.1:c.1119C>G, NM_001353745.1:c.1119C>A, NM_001353738.2:c.1119C>T, NM_001353738.2:c.1119C>G, NM_001353738.2:c.1119C>A, NM_001353738.1:c.1119C>T, NM_001353738.1:c.1119C>G, NM_001353738.1:c.1119C>A, NM_001353724.2:c.1122C>T, NM_001353724.2:c.1122C>G, NM_001353724.2:c.1122C>A, NM_001353724.1:c.1122C>T, NM_001353724.1:c.1122C>G, NM_001353724.1:c.1122C>A, NM_001330603.2:c.1119C>T, NM_001330603.2:c.1119C>G, NM_001330603.2:c.1119C>A, NM_001330603.1:c.1119C>T, NM_001330603.1:c.1119C>G, NM_001330603.1:c.1119C>A, NM_001025088.2:c.1116C>T, NM_001025088.2:c.1116C>G, NM_001025088.2:c.1116C>A, NM_001025088.1:c.1116C>T, NM_001025088.1:c.1116C>G, NM_001025088.1:c.1116C>A, NM_001353718.2:c.1119C>T, NM_001353718.2:c.1119C>G, NM_001353718.2:c.1119C>A, NM_001353718.1:c.1119C>T, NM_001353718.1:c.1119C>G, NM_001353718.1:c.1119C>A, NM_001353702.2:c.1116C>T, NM_001353702.2:c.1116C>G, NM_001353702.2:c.1116C>A, NM_001353702.1:c.1116C>T, NM_001353702.1:c.1116C>G, NM_001353702.1:c.1116C>A, NM_001353712.2:c.1116C>T, NM_001353712.2:c.1116C>G, NM_001353712.2:c.1116C>A, NM_001353712.1:c.1116C>T, NM_001353712.1:c.1116C>G, NM_001353712.1:c.1116C>A, NR_148518.2:n.1246C>T, NR_148518.2:n.1246C>G, NR_148518.2:n.1246C>A, NR_148518.1:n.1485C>T, NR_148518.1:n.1485C>G, NR_148518.1:n.1485C>A, NM_001353752.2:c.1089C>T, NM_001353752.2:c.1089C>G, NM_001353752.2:c.1089C>A, NM_001353752.1:c.1089C>T, NM_001353752.1:c.1089C>G, NM_001353752.1:c.1089C>A, NM_001353748.2:c.1092C>T, NM_001353748.2:c.1092C>G, NM_001353748.2:c.1092C>A, NM_001353748.1:c.1092C>T, NM_001353748.1:c.1092C>G, NM_001353748.1:c.1092C>A, NM_001353709.2:c.1089C>T, NM_001353709.2:c.1089C>G, NM_001353709.2:c.1089C>A, NM_001353709.1:c.1089C>T, NM_001353709.1:c.1089C>G, NM_001353709.1:c.1089C>A, NR_148519.2:n.1243C>T, NR_148519.2:n.1243C>G, NR_148519.2:n.1243C>A, NR_148519.1:n.1482C>T, NR_148519.1:n.1482C>G, NR_148519.1:n.1482C>A, NM_001353715.2:c.1092C>T, NM_001353715.2:c.1092C>G, NM_001353715.2:c.1092C>A, NM_001353715.1:c.1092C>T, NM_001353715.1:c.1092C>G, NM_001353715.1:c.1092C>A, NM_001353755.2:c.1086C>T, NM_001353755.2:c.1086C>G, NM_001353755.2:c.1086C>A, 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XM_047437640.1:c.1119C>T, XM_047437640.1:c.1119C>G, XM_047437640.1:c.1119C>A, XM_047437645.1:c.1122C>T, XM_047437645.1:c.1122C>G, XM_047437645.1:c.1122C>A, XM_047437644.1:c.1119C>T, XM_047437644.1:c.1119C>G, XM_047437644.1:c.1119C>A, XM_047437643.1:c.1119C>T, XM_047437643.1:c.1119C>G, XM_047437643.1:c.1119C>A, XM_047437646.1:c.1119C>T, XM_047437646.1:c.1119C>G, XM_047437646.1:c.1119C>A, XM_047437653.1:c.1092C>T, XM_047437653.1:c.1092C>G, XM_047437653.1:c.1092C>A, XM_047437670.1:c.1092C>T, XM_047437670.1:c.1092C>G, XM_047437670.1:c.1092C>A, XM_047437648.1:c.1092C>T, XM_047437648.1:c.1092C>G, XM_047437648.1:c.1092C>A, XM_047437647.1:c.1089C>T, XM_047437647.1:c.1089C>G, XM_047437647.1:c.1089C>A, XM_047437651.1:c.1092C>T, XM_047437651.1:c.1092C>G, XM_047437651.1:c.1092C>A, XM_047437650.1:c.1089C>T, XM_047437650.1:c.1089C>G, XM_047437650.1:c.1089C>A, XM_047437649.1:c.1089C>T, XM_047437649.1:c.1089C>G, XM_047437649.1:c.1089C>A, XM_047437652.1:c.1089C>T, XM_047437652.1:c.1089C>G, XM_047437652.1:c.1089C>A, XM_047437654.1:c.1122C>T, XM_047437654.1:c.1122C>G, XM_047437654.1:c.1122C>A, XM_047437657.1:c.1122C>T, XM_047437657.1:c.1122C>G, XM_047437657.1:c.1122C>A, XM_047437656.1:c.1122C>T, XM_047437656.1:c.1122C>G, XM_047437656.1:c.1122C>A, XM_047437655.1:c.1119C>T, XM_047437655.1:c.1119C>G, XM_047437655.1:c.1119C>A, XM_047437660.1:c.1122C>T, XM_047437660.1:c.1122C>G, XM_047437660.1:c.1122C>A, XM_047437659.1:c.1119C>T, XM_047437659.1:c.1119C>G, XM_047437659.1:c.1119C>A, XM_047437658.1:c.1119C>T, XM_047437658.1:c.1119C>G, XM_047437658.1:c.1119C>A, XM_047437661.1:c.1119C>T, XM_047437661.1:c.1119C>G, XM_047437661.1:c.1119C>A, XM_047437662.1:c.1092C>T, XM_047437662.1:c.1092C>G, XM_047437662.1:c.1092C>A, XM_047437665.1:c.1092C>T, XM_047437665.1:c.1092C>G, XM_047437665.1:c.1092C>A, XM_047437664.1:c.1092C>T, XM_047437664.1:c.1092C>G, XM_047437664.1:c.1092C>A, XM_047437663.1:c.1089C>T, XM_047437663.1:c.1089C>G, XM_047437663.1:c.1089C>A, XM_047437668.1:c.1092C>T, XM_047437668.1:c.1092C>G, XM_047437668.1:c.1092C>A, XM_047437667.1:c.1089C>T, XM_047437667.1:c.1089C>G, XM_047437667.1:c.1089C>A, XM_047437666.1:c.1089C>T, XM_047437666.1:c.1089C>G, XM_047437666.1:c.1089C>A, NP_064565.1:p.Asp374Glu, NP_064565.1:p.Asp374Glu, NP_001340669.1:p.Asp374Glu, NP_001340669.1:p.Asp374Glu, NP_001340678.1:p.Asp373Glu, NP_001340678.1:p.Asp373Glu, NP_001340664.1:p.Asp363Glu, NP_001340664.1:p.Asp363Glu, NP_001340662.1:p.Asp362Glu, NP_001340662.1:p.Asp362Glu, NP_001340663.1:p.Asp374Glu, NP_001340663.1:p.Asp374Glu, NP_001340675.1:p.Asp373Glu, NP_001340675.1:p.Asp373Glu, NP_001340660.1:p.Asp374Glu, NP_001340660.1:p.Asp374Glu, NP_001340671.1:p.Asp373Glu, NP_001340671.1:p.Asp373Glu, NP_001340632.1:p.Asp364Glu, NP_001340632.1:p.Asp364Glu, NP_001340670.1:p.Asp363Glu, NP_001340670.1:p.Asp363Glu, NP_001340655.1:p.Asp363Glu, NP_001340655.1:p.Asp363Glu, NP_001340657.1:p.Asp363Glu, NP_001340657.1:p.Asp363Glu, NP_001340668.1:p.Asp362Glu, NP_001340668.1:p.Asp362Glu, NP_001340646.1:p.Asp364Glu, NP_001340646.1:p.Asp364Glu, NP_001340636.1:p.Asp363Glu, NP_001340636.1:p.Asp363Glu, NP_001340634.1:p.Asp362Glu, NP_001340634.1:p.Asp362Glu, NP_001340680.1:p.Asp374Glu, NP_001340680.1:p.Asp374Glu, NP_001340673.1:p.Asp374Glu, NP_001340673.1:p.Asp374Glu, NP_001340627.1:p.Asp373Glu, NP_001340627.1:p.Asp373Glu, NP_001020258.1:p.Asp373Glu, NP_001020258.1:p.Asp373Glu, NP_001340674.1:p.Asp373Glu, NP_001340674.1:p.Asp373Glu, NP_001340667.1:p.Asp373Glu, NP_001340667.1:p.Asp373Glu, NP_001340653.1:p.Asp374Glu, NP_001340653.1:p.Asp374Glu, NP_001317532.1:p.Asp373Glu, NP_001317532.1:p.Asp373Glu, NP_001020259.1:p.Asp372Glu, NP_001020259.1:p.Asp372Glu, NP_001340647.1:p.Asp373Glu, NP_001340647.1:p.Asp373Glu, NP_001340631.1:p.Asp372Glu, NP_001340631.1:p.Asp372Glu, NP_001340641.1:p.Asp372Glu, NP_001340641.1:p.Asp372Glu, NP_001340681.1:p.Asp363Glu, NP_001340681.1:p.Asp363Glu, NP_001340677.1:p.Asp364Glu, NP_001340677.1:p.Asp364Glu, NP_001340638.1:p.Asp363Glu, NP_001340638.1:p.Asp363Glu, NP_001340644.1:p.Asp364Glu, NP_001340644.1:p.Asp364Glu, NP_001340684.1:p.Asp362Glu, NP_001340684.1:p.Asp362Glu, NP_001340682.1:p.Asp363Glu, NP_001340682.1:p.Asp363Glu, NP_001340679.1:p.Asp363Glu, NP_001340679.1:p.Asp363Glu, NP_001340650.1:p.Asp363Glu, NP_001340650.1:p.Asp363Glu, NP_001340639.1:p.Asp364Glu, NP_001340639.1:p.Asp364Glu, NP_001340624.1:p.Asp363Glu, NP_001340624.1:p.Asp363Glu, NP_001340654.1:p.Asp362Glu, NP_001340654.1:p.Asp362Glu, NP_001340643.1:p.Asp363Glu, NP_001340643.1:p.Asp363Glu, NP_001340640.1:p.Asp362Glu, NP_001340640.1:p.Asp362Glu, NP_001340637.1:p.Asp374Glu, NP_001340637.1:p.Asp374Glu, NP_001340672.1:p.Asp374Glu, NP_001340672.1:p.Asp374Glu, NP_001340652.1:p.Asp373Glu, NP_001340652.1:p.Asp373Glu, NP_001340625.1:p.Asp373Glu, NP_001340625.1:p.Asp373Glu, NP_001340683.1:p.Asp372Glu, NP_001340683.1:p.Asp372Glu, NP_001340676.1:p.Asp373Glu, NP_001340676.1:p.Asp373Glu, NP_001340665.1:p.Asp374Glu, NP_001340665.1:p.Asp374Glu, NP_001340659.1:p.Asp373Glu, NP_001340659.1:p.Asp373Glu, NP_001340658.1:p.Asp373Glu, NP_001340658.1:p.Asp373Glu, NP_001340666.1:p.Asp373Glu, NP_001340666.1:p.Asp373Glu, NP_001340645.1:p.Asp372Glu, NP_001340645.1:p.Asp372Glu, NP_001020260.1:p.Asp364Glu, NP_001020260.1:p.Asp364Glu, NP_001340648.1:p.Asp364Glu, NP_001340648.1:p.Asp364Glu, NP_001340642.1:p.Asp363Glu, NP_001340642.1:p.Asp363Glu, NP_001340629.1:p.Asp364Glu, NP_001340629.1:p.Asp364Glu, NP_001340626.1:p.Asp363Glu, NP_001340626.1:p.Asp363Glu, NP_001340661.1:p.Asp363Glu, NP_001340661.1:p.Asp363Glu, NP_001340656.1:p.Asp363Glu, NP_001340656.1:p.Asp363Glu, NP_001340649.1:p.Asp364Glu, NP_001340649.1:p.Asp364Glu, NP_001340635.1:p.Asp362Glu, NP_001340635.1:p.Asp362Glu, NP_001340628.1:p.Asp363Glu, NP_001340628.1:p.Asp363Glu, NP_001340651.1:p.Asp362Glu, NP_001340651.1:p.Asp362Glu, NP_001340685.1:p.Asp250Glu, NP_001340685.1:p.Asp250Glu, NP_001340690.1:p.Asp250Glu, NP_001340690.1:p.Asp250Glu, NP_001340686.1:p.Asp241Glu, NP_001340686.1:p.Asp241Glu, NP_001340689.1:p.Asp241Glu, NP_001340689.1:p.Asp241Glu, NP_001340688.1:p.Asp240Glu, NP_001340688.1:p.Asp240Glu, NP_001340687.1:p.Asp240Glu, NP_001340687.1:p.Asp240Glu, XP_047293584.1:p.Asp374Glu, XP_047293584.1:p.Asp374Glu, XP_047293585.1:p.Asp373Glu, XP_047293585.1:p.Asp373Glu, XP_047293588.1:p.Asp374Glu, XP_047293588.1:p.Asp374Glu, XP_047293589.1:p.Asp374Glu, XP_047293589.1:p.Asp374Glu, XP_047293591.1:p.Asp374Glu, XP_047293591.1:p.Asp374Glu, XP_047293590.1:p.Asp373Glu, XP_047293590.1:p.Asp373Glu, XP_047293586.1:p.Asp364Glu, XP_047293586.1:p.Asp364Glu, XP_047293587.1:p.Asp364Glu, XP_047293587.1:p.Asp364Glu, XP_047293592.1:p.Asp364Glu, XP_047293592.1:p.Asp364Glu, XP_047293593.1:p.Asp363Glu, XP_047293593.1:p.Asp363Glu, XP_047293625.1:p.Asp363Glu, XP_047293625.1:p.Asp363Glu, XP_047293594.1:p.Asp364Glu, XP_047293594.1:p.Asp364Glu, XP_047293627.1:p.Asp363Glu, XP_047293627.1:p.Asp363Glu, XP_047293595.1:p.Asp374Glu, XP_047293595.1:p.Asp374Glu, XP_047293598.1:p.Asp374Glu, XP_047293598.1:p.Asp374Glu, XP_047293597.1:p.Asp374Glu, XP_047293597.1:p.Asp374Glu, XP_047293596.1:p.Asp373Glu, XP_047293596.1:p.Asp373Glu, XP_047293601.1:p.Asp374Glu, XP_047293601.1:p.Asp374Glu, XP_047293600.1:p.Asp373Glu, XP_047293600.1:p.Asp373Glu, XP_047293599.1:p.Asp373Glu, XP_047293599.1:p.Asp373Glu, XP_047293602.1:p.Asp373Glu, XP_047293602.1:p.Asp373Glu, XP_047293609.1:p.Asp364Glu, XP_047293609.1:p.Asp364Glu, XP_047293626.1:p.Asp364Glu, XP_047293626.1:p.Asp364Glu, XP_047293604.1:p.Asp364Glu, XP_047293604.1:p.Asp364Glu, XP_047293603.1:p.Asp363Glu, XP_047293603.1:p.Asp363Glu, XP_047293607.1:p.Asp364Glu, XP_047293607.1:p.Asp364Glu, XP_047293606.1:p.Asp363Glu, XP_047293606.1:p.Asp363Glu, XP_047293605.1:p.Asp363Glu, XP_047293605.1:p.Asp363Glu, XP_047293608.1:p.Asp363Glu, XP_047293608.1:p.Asp363Glu, XP_047293610.1:p.Asp374Glu, XP_047293610.1:p.Asp374Glu, XP_047293613.1:p.Asp374Glu, XP_047293613.1:p.Asp374Glu, XP_047293612.1:p.Asp374Glu, XP_047293612.1:p.Asp374Glu, XP_047293611.1:p.Asp373Glu, XP_047293611.1:p.Asp373Glu, XP_047293616.1:p.Asp374Glu, XP_047293616.1:p.Asp374Glu, XP_047293615.1:p.Asp373Glu, XP_047293615.1:p.Asp373Glu, XP_047293614.1:p.Asp373Glu, XP_047293614.1:p.Asp373Glu, XP_047293617.1:p.Asp373Glu, XP_047293617.1:p.Asp373Glu, XP_047293618.1:p.Asp364Glu, XP_047293618.1:p.Asp364Glu, XP_047293621.1:p.Asp364Glu, XP_047293621.1:p.Asp364Glu, XP_047293620.1:p.Asp364Glu, XP_047293620.1:p.Asp364Glu, XP_047293619.1:p.Asp363Glu, XP_047293619.1:p.Asp363Glu, XP_047293624.1:p.Asp364Glu, XP_047293624.1:p.Asp364Glu, XP_047293623.1:p.Asp363Glu, XP_047293623.1:p.Asp363Glu, XP_047293622.1:p.Asp363Glu, XP_047293622.1:p.Asp363Glu

      3.

      rs1485752844 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        18:37485584 (GRCh38)
        18:35065547 (GRCh37)
        Canonical SPDI:
        NC_000018.10:37485583:C:T
        Gene:
        CELF4 (Varview)
        Functional Consequence:
        missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000018.10:g.37485584C>T, NC_000018.9:g.35065547C>T, NM_020180.4:c.310G>A, NM_020180.3:c.310G>A, NM_001353740.2:c.310G>A, NM_001353740.1:c.310G>A, NM_001353749.2:c.310G>A, NM_001353749.1:c.310G>A, NM_001353735.2:c.310G>A, NM_001353735.1:c.310G>A, NM_001353733.2:c.310G>A, NM_001353733.1:c.310G>A, NR_148527.2:n.467G>A, NR_148527.1:n.706G>A, NR_148528.2:n.467G>A, NR_148528.1:n.706G>A, NR_148526.2:n.467G>A, NR_148526.1:n.706G>A, NR_148521.2:n.467G>A, NR_148521.1:n.706G>A, NR_148520.2:n.467G>A, NR_148520.1:n.706G>A, NM_001353734.2:c.310G>A, NM_001353734.1:c.310G>A, NM_001353746.2:c.310G>A, NM_001353746.1:c.310G>A, NM_001353731.2:c.310G>A, NM_001353731.1:c.310G>A, NR_148523.2:n.467G>A, NR_148523.1:n.706G>A, NM_001353742.2:c.310G>A, NM_001353742.1:c.310G>A, NR_148525.2:n.467G>A, NR_148525.1:n.706G>A, NR_148524.2:n.467G>A, NR_148524.1:n.706G>A, NR_148522.2:n.467G>A, NR_148522.1:n.706G>A, NM_001353703.2:c.310G>A, NM_001353703.1:c.310G>A, NM_001353741.2:c.310G>A, NM_001353741.1:c.310G>A, NM_001353726.2:c.310G>A, NM_001353726.1:c.310G>A, NM_001353728.2:c.310G>A, NM_001353728.1:c.310G>A, NM_001353739.2:c.310G>A, NM_001353739.1:c.310G>A, NM_001353717.2:c.310G>A, NM_001353717.1:c.310G>A, NM_001353707.2:c.310G>A, NM_001353707.1:c.310G>A, NM_001353705.2:c.310G>A, NM_001353705.1:c.310G>A, NM_001353751.2:c.310G>A, NM_001353751.1:c.310G>A, NM_001353744.2:c.310G>A, NM_001353744.1:c.310G>A, NM_001353698.2:c.310G>A, NM_001353698.1:c.310G>A, NM_001025087.2:c.310G>A, NM_001025087.1:c.310G>A, NM_001353745.2:c.310G>A, NM_001353745.1:c.310G>A, NM_001353738.2:c.310G>A, NM_001353738.1:c.310G>A, NM_001353724.2:c.310G>A, NM_001353724.1:c.310G>A, NM_001330603.2:c.310G>A, NM_001330603.1:c.310G>A, NM_001025088.2:c.310G>A, NM_001025088.1:c.310G>A, NM_001353718.2:c.310G>A, NM_001353718.1:c.310G>A, NM_001353702.2:c.310G>A, NM_001353702.1:c.310G>A, NM_001353712.2:c.310G>A, NM_001353712.1:c.310G>A, NR_148518.2:n.467G>A, NR_148518.1:n.706G>A, NM_001353752.2:c.310G>A, NM_001353752.1:c.310G>A, NM_001353748.2:c.310G>A, NM_001353748.1:c.310G>A, NM_001353709.2:c.310G>A, NM_001353709.1:c.310G>A, NR_148519.2:n.467G>A, NR_148519.1:n.706G>A, NM_001353715.2:c.310G>A, NM_001353715.1:c.310G>A, NM_001353755.2:c.310G>A, NM_001353755.1:c.310G>A, NM_001353753.2:c.310G>A, NM_001353753.1:c.310G>A, NM_001353750.2:c.310G>A, NM_001353750.1:c.310G>A, NM_001353721.2:c.310G>A, NM_001353721.1:c.310G>A, NM_001353710.2:c.310G>A, NM_001353710.1:c.310G>A, NM_001353695.2:c.310G>A, NM_001353695.1:c.310G>A, NM_001353725.2:c.310G>A, NM_001353725.1:c.310G>A, NM_001353714.2:c.310G>A, NM_001353714.1:c.310G>A, NM_001353711.2:c.310G>A, NM_001353711.1:c.310G>A, NM_001353708.2:c.310G>A, NM_001353708.1:c.310G>A, NM_001353743.2:c.310G>A, NM_001353743.1:c.310G>A, NM_001353723.2:c.310G>A, NM_001353723.1:c.310G>A, NM_001353696.2:c.310G>A, NM_001353696.1:c.310G>A, NM_001353754.2:c.310G>A, NM_001353754.1:c.310G>A, NM_001353747.2:c.310G>A, NM_001353747.1:c.310G>A, NM_001353736.2:c.310G>A, NM_001353736.1:c.310G>A, NM_001353730.2:c.310G>A, NM_001353730.1:c.310G>A, NM_001353729.2:c.310G>A, NM_001353729.1:c.310G>A, NM_001353737.2:c.310G>A, NM_001353737.1:c.310G>A, NM_001353716.2:c.310G>A, NM_001353716.1:c.310G>A, NM_001025089.2:c.310G>A, NM_001025089.1:c.310G>A, NM_001353719.2:c.310G>A, NM_001353719.1:c.310G>A, NM_001353713.2:c.310G>A, NM_001353713.1:c.310G>A, NM_001353700.2:c.310G>A, NM_001353700.1:c.310G>A, NM_001353697.2:c.310G>A, NM_001353697.1:c.310G>A, NM_001353732.2:c.310G>A, NM_001353732.1:c.310G>A, NM_001353727.2:c.310G>A, NM_001353727.1:c.310G>A, NM_001353720.2:c.310G>A, NM_001353720.1:c.310G>A, NM_001353706.2:c.310G>A, NM_001353706.1:c.310G>A, NM_001353699.2:c.310G>A, NM_001353699.1:c.310G>A, NM_001353722.2:c.310G>A, NM_001353722.1:c.310G>A, NM_001353756.2:c.-60G>A, NM_001353756.1:c.-60G>A, NM_001353761.2:c.-60G>A, NM_001353761.1:c.-60G>A, NM_001353757.2:c.-60G>A, NM_001353757.1:c.-60G>A, NM_001353760.2:c.-60G>A, NM_001353760.1:c.-60G>A, NM_001353759.2:c.-60G>A, NM_001353759.1:c.-60G>A, NM_001353758.2:c.-60G>A, NM_001353758.1:c.-60G>A, XM_047437628.1:c.310G>A, XM_047437629.1:c.310G>A, XM_047437632.1:c.310G>A, XM_047437633.1:c.310G>A, XM_047437635.1:c.310G>A, XM_047437634.1:c.310G>A, XM_047437630.1:c.310G>A, XM_047437631.1:c.310G>A, XM_047437636.1:c.310G>A, XM_047437637.1:c.310G>A, XM_047437669.1:c.310G>A, XM_047437638.1:c.310G>A, XM_047437671.1:c.310G>A, XM_047437639.1:c.310G>A, XM_047437642.1:c.310G>A, XM_047437641.1:c.310G>A, XM_047437640.1:c.310G>A, XM_047437645.1:c.310G>A, XM_047437644.1:c.310G>A, XM_047437643.1:c.310G>A, XM_047437646.1:c.310G>A, XM_047437653.1:c.310G>A, XM_047437670.1:c.310G>A, XM_047437648.1:c.310G>A, XM_047437647.1:c.310G>A, XM_047437651.1:c.310G>A, XM_047437650.1:c.310G>A, XM_047437649.1:c.310G>A, XM_047437652.1:c.310G>A, XM_047437654.1:c.310G>A, XM_047437657.1:c.310G>A, XM_047437656.1:c.310G>A, XM_047437655.1:c.310G>A, XM_047437660.1:c.310G>A, XM_047437659.1:c.310G>A, XM_047437658.1:c.310G>A, XM_047437661.1:c.310G>A, XM_047437662.1:c.310G>A, XM_047437665.1:c.310G>A, XM_047437664.1:c.310G>A, XM_047437663.1:c.310G>A, XM_047437668.1:c.310G>A, XM_047437667.1:c.310G>A, XM_047437666.1:c.310G>A, NP_064565.1:p.Glu104Lys, NP_001340669.1:p.Glu104Lys, NP_001340678.1:p.Glu104Lys, NP_001340664.1:p.Glu104Lys, NP_001340662.1:p.Glu104Lys, NP_001340663.1:p.Glu104Lys, NP_001340675.1:p.Glu104Lys, NP_001340660.1:p.Glu104Lys, NP_001340671.1:p.Glu104Lys, NP_001340632.1:p.Glu104Lys, NP_001340670.1:p.Glu104Lys, NP_001340655.1:p.Glu104Lys, NP_001340657.1:p.Glu104Lys, NP_001340668.1:p.Glu104Lys, NP_001340646.1:p.Glu104Lys, NP_001340636.1:p.Glu104Lys, NP_001340634.1:p.Glu104Lys, NP_001340680.1:p.Glu104Lys, NP_001340673.1:p.Glu104Lys, NP_001340627.1:p.Glu104Lys, NP_001020258.1:p.Glu104Lys, NP_001340674.1:p.Glu104Lys, NP_001340667.1:p.Glu104Lys, NP_001340653.1:p.Glu104Lys, NP_001317532.1:p.Glu104Lys, NP_001020259.1:p.Glu104Lys, NP_001340647.1:p.Glu104Lys, NP_001340631.1:p.Glu104Lys, NP_001340641.1:p.Glu104Lys, NP_001340681.1:p.Glu104Lys, NP_001340677.1:p.Glu104Lys, NP_001340638.1:p.Glu104Lys, NP_001340644.1:p.Glu104Lys, NP_001340684.1:p.Glu104Lys, NP_001340682.1:p.Glu104Lys, NP_001340679.1:p.Glu104Lys, NP_001340650.1:p.Glu104Lys, NP_001340639.1:p.Glu104Lys, NP_001340624.1:p.Glu104Lys, NP_001340654.1:p.Glu104Lys, NP_001340643.1:p.Glu104Lys, NP_001340640.1:p.Glu104Lys, NP_001340637.1:p.Glu104Lys, NP_001340672.1:p.Glu104Lys, NP_001340652.1:p.Glu104Lys, NP_001340625.1:p.Glu104Lys, NP_001340683.1:p.Glu104Lys, NP_001340676.1:p.Glu104Lys, NP_001340665.1:p.Glu104Lys, NP_001340659.1:p.Glu104Lys, NP_001340658.1:p.Glu104Lys, NP_001340666.1:p.Glu104Lys, NP_001340645.1:p.Glu104Lys, NP_001020260.1:p.Glu104Lys, NP_001340648.1:p.Glu104Lys, NP_001340642.1:p.Glu104Lys, NP_001340629.1:p.Glu104Lys, NP_001340626.1:p.Glu104Lys, NP_001340661.1:p.Glu104Lys, NP_001340656.1:p.Glu104Lys, NP_001340649.1:p.Glu104Lys, NP_001340635.1:p.Glu104Lys, NP_001340628.1:p.Glu104Lys, NP_001340651.1:p.Glu104Lys, XP_047293584.1:p.Glu104Lys, XP_047293585.1:p.Glu104Lys, XP_047293588.1:p.Glu104Lys, XP_047293589.1:p.Glu104Lys, XP_047293591.1:p.Glu104Lys, XP_047293590.1:p.Glu104Lys, XP_047293586.1:p.Glu104Lys, XP_047293587.1:p.Glu104Lys, XP_047293592.1:p.Glu104Lys, XP_047293593.1:p.Glu104Lys, XP_047293625.1:p.Glu104Lys, XP_047293594.1:p.Glu104Lys, XP_047293627.1:p.Glu104Lys, XP_047293595.1:p.Glu104Lys, XP_047293598.1:p.Glu104Lys, XP_047293597.1:p.Glu104Lys, XP_047293596.1:p.Glu104Lys, XP_047293601.1:p.Glu104Lys, XP_047293600.1:p.Glu104Lys, XP_047293599.1:p.Glu104Lys, XP_047293602.1:p.Glu104Lys, XP_047293609.1:p.Glu104Lys, XP_047293626.1:p.Glu104Lys, XP_047293604.1:p.Glu104Lys, XP_047293603.1:p.Glu104Lys, XP_047293607.1:p.Glu104Lys, XP_047293606.1:p.Glu104Lys, XP_047293605.1:p.Glu104Lys, XP_047293608.1:p.Glu104Lys, XP_047293610.1:p.Glu104Lys, XP_047293613.1:p.Glu104Lys, XP_047293612.1:p.Glu104Lys, XP_047293611.1:p.Glu104Lys, XP_047293616.1:p.Glu104Lys, XP_047293615.1:p.Glu104Lys, XP_047293614.1:p.Glu104Lys, XP_047293617.1:p.Glu104Lys, XP_047293618.1:p.Glu104Lys, XP_047293621.1:p.Glu104Lys, XP_047293620.1:p.Glu104Lys, XP_047293619.1:p.Glu104Lys, XP_047293624.1:p.Glu104Lys, XP_047293623.1:p.Glu104Lys, XP_047293622.1:p.Glu104Lys

        4.

        rs1484799952 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          18:37274312 (GRCh38)
          18:34854275 (GRCh37)
          Canonical SPDI:
          NC_000018.10:37274311:G:A
          Gene:
          CELF4 (Varview), LOC105372068 (Varview)
          Functional Consequence:
          upstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000018.10:g.37274312G>A, NC_000018.9:g.34854275G>A, NM_020180.4:c.800C>T, NM_020180.3:c.800C>T, NM_001353740.2:c.800C>T, NM_001353740.1:c.800C>T, NM_001353749.2:c.797C>T, NM_001353749.1:c.797C>T, NM_001353735.2:c.767C>T, NM_001353735.1:c.767C>T, NM_001353733.2:c.767C>T, NM_001353733.1:c.767C>T, NR_148527.2:n.957C>T, NR_148527.1:n.1196C>T, NR_148528.2:n.954C>T, NR_148528.1:n.1193C>T, NR_148526.2:n.957C>T, NR_148526.1:n.1196C>T, NR_148521.2:n.957C>T, NR_148521.1:n.1196C>T, NR_148520.2:n.957C>T, NR_148520.1:n.1196C>T, NM_001353734.2:c.800C>T, NM_001353734.1:c.800C>T, NM_001353746.2:c.800C>T, NM_001353746.1:c.800C>T, NM_001353731.2:c.800C>T, NM_001353731.1:c.800C>T, NR_148523.2:n.927C>T, NR_148523.1:n.1166C>T, NM_001353742.2:c.797C>T, NM_001353742.1:c.797C>T, NR_148525.2:n.924C>T, NR_148525.1:n.1163C>T, NR_148524.2:n.927C>T, NR_148524.1:n.1166C>T, NR_148522.2:n.924C>T, NR_148522.1:n.1163C>T, NM_001353703.2:c.770C>T, NM_001353703.1:c.770C>T, NM_001353741.2:c.770C>T, NM_001353741.1:c.770C>T, NM_001353726.2:c.767C>T, NM_001353726.1:c.767C>T, NM_001353728.2:c.767C>T, NM_001353728.1:c.767C>T, NM_001353739.2:c.767C>T, NM_001353739.1:c.767C>T, NM_001353717.2:c.770C>T, NM_001353717.1:c.770C>T, NM_001353707.2:c.767C>T, NM_001353707.1:c.767C>T, NM_001353705.2:c.767C>T, NM_001353705.1:c.767C>T, NM_001353751.2:c.800C>T, NM_001353751.1:c.800C>T, NM_001353744.2:c.800C>T, NM_001353744.1:c.800C>T, NM_001353698.2:c.797C>T, NM_001353698.1:c.797C>T, NM_001025087.2:c.800C>T, NM_001025087.1:c.800C>T, NM_001353745.2:c.800C>T, NM_001353745.1:c.800C>T, NM_001353738.2:c.797C>T, NM_001353738.1:c.797C>T, NM_001353724.2:c.800C>T, NM_001353724.1:c.800C>T, NM_001330603.2:c.797C>T, NM_001330603.1:c.797C>T, NM_001025088.2:c.797C>T, NM_001025088.1:c.797C>T, NM_001353718.2:c.797C>T, NM_001353718.1:c.797C>T, NM_001353702.2:c.797C>T, NM_001353702.1:c.797C>T, NM_001353712.2:c.797C>T, NM_001353712.1:c.797C>T, NR_148518.2:n.924C>T, NR_148518.1:n.1163C>T, NM_001353752.2:c.770C>T, NM_001353752.1:c.770C>T, NM_001353748.2:c.770C>T, NM_001353748.1:c.770C>T, NM_001353709.2:c.767C>T, NM_001353709.1:c.767C>T, NR_148519.2:n.924C>T, NR_148519.1:n.1163C>T, NM_001353715.2:c.770C>T, NM_001353715.1:c.770C>T, NM_001353755.2:c.767C>T, NM_001353755.1:c.767C>T, NM_001353753.2:c.767C>T, NM_001353753.1:c.767C>T, NM_001353750.2:c.770C>T, NM_001353750.1:c.770C>T, NM_001353721.2:c.770C>T, NM_001353721.1:c.770C>T, NM_001353710.2:c.770C>T, NM_001353710.1:c.770C>T, NM_001353695.2:c.767C>T, NM_001353695.1:c.767C>T, NM_001353725.2:c.767C>T, NM_001353725.1:c.767C>T, NM_001353714.2:c.767C>T, NM_001353714.1:c.767C>T, NM_001353711.2:c.767C>T, NM_001353711.1:c.767C>T, NM_001353708.2:c.800C>T, NM_001353708.1:c.800C>T, NM_001353743.2:c.800C>T, NM_001353743.1:c.800C>T, NM_001353723.2:c.800C>T, NM_001353723.1:c.800C>T, NM_001353696.2:c.797C>T, NM_001353696.1:c.797C>T, NM_001353754.2:c.797C>T, NM_001353754.1:c.797C>T, NM_001353747.2:c.800C>T, NM_001353747.1:c.800C>T, NM_001353736.2:c.800C>T, NM_001353736.1:c.800C>T, NM_001353730.2:c.797C>T, NM_001353730.1:c.797C>T, NM_001353729.2:c.797C>T, NM_001353729.1:c.797C>T, NM_001353737.2:c.797C>T, NM_001353737.1:c.797C>T, NM_001353716.2:c.797C>T, NM_001353716.1:c.797C>T, NM_001025089.2:c.770C>T, NM_001025089.1:c.770C>T, NM_001353719.2:c.770C>T, NM_001353719.1:c.770C>T, NM_001353713.2:c.770C>T, NM_001353713.1:c.770C>T, NM_001353700.2:c.770C>T, NM_001353700.1:c.770C>T, NM_001353697.2:c.767C>T, NM_001353697.1:c.767C>T, NM_001353732.2:c.767C>T, NM_001353732.1:c.767C>T, NM_001353727.2:c.767C>T, NM_001353727.1:c.767C>T, NM_001353720.2:c.770C>T, NM_001353720.1:c.770C>T, NM_001353706.2:c.767C>T, NM_001353706.1:c.767C>T, NM_001353699.2:c.770C>T, NM_001353699.1:c.770C>T, NM_001353722.2:c.767C>T, NM_001353722.1:c.767C>T, NM_001353756.2:c.428C>T, NM_001353756.1:c.428C>T, NM_001353761.2:c.428C>T, NM_001353761.1:c.428C>T, NM_001353757.2:c.401C>T, NM_001353757.1:c.401C>T, NM_001353760.2:c.401C>T, NM_001353760.1:c.401C>T, NM_001353759.2:c.398C>T, NM_001353759.1:c.398C>T, NM_001353758.2:c.398C>T, NM_001353758.1:c.398C>T, XM_047437628.1:c.800C>T, XM_047437629.1:c.797C>T, XM_047437632.1:c.800C>T, XM_047437633.1:c.800C>T, XM_047437635.1:c.800C>T, XM_047437634.1:c.797C>T, XM_047437630.1:c.770C>T, XM_047437631.1:c.770C>T, XM_047437636.1:c.770C>T, XM_047437637.1:c.767C>T, XM_047437669.1:c.767C>T, XM_047437638.1:c.770C>T, XM_047437671.1:c.767C>T, XM_047437639.1:c.800C>T, XM_047437642.1:c.800C>T, XM_047437641.1:c.800C>T, XM_047437640.1:c.797C>T, XM_047437645.1:c.800C>T, XM_047437644.1:c.797C>T, XM_047437643.1:c.797C>T, XM_047437646.1:c.797C>T, XM_047437653.1:c.770C>T, XM_047437670.1:c.770C>T, XM_047437648.1:c.770C>T, XM_047437647.1:c.767C>T, XM_047437651.1:c.770C>T, XM_047437650.1:c.767C>T, XM_047437649.1:c.767C>T, XM_047437652.1:c.767C>T, XM_047437654.1:c.800C>T, XM_047437657.1:c.800C>T, XM_047437656.1:c.800C>T, XM_047437655.1:c.797C>T, XM_047437660.1:c.800C>T, XM_047437659.1:c.797C>T, XM_047437658.1:c.797C>T, XM_047437661.1:c.797C>T, XM_047437662.1:c.770C>T, XM_047437665.1:c.770C>T, XM_047437664.1:c.770C>T, XM_047437663.1:c.767C>T, XM_047437668.1:c.770C>T, XM_047437667.1:c.767C>T, XM_047437666.1:c.767C>T, NP_064565.1:p.Ala267Val, NP_001340669.1:p.Ala267Val, NP_001340678.1:p.Ala266Val, NP_001340664.1:p.Ala256Val, NP_001340662.1:p.Ala256Val, NP_001340663.1:p.Ala267Val, NP_001340675.1:p.Ala267Val, NP_001340660.1:p.Ala267Val, NP_001340671.1:p.Ala266Val, NP_001340632.1:p.Ala257Val, NP_001340670.1:p.Ala257Val, NP_001340655.1:p.Ala256Val, NP_001340657.1:p.Ala256Val, NP_001340668.1:p.Ala256Val, NP_001340646.1:p.Ala257Val, NP_001340636.1:p.Ala256Val, NP_001340634.1:p.Ala256Val, NP_001340680.1:p.Ala267Val, NP_001340673.1:p.Ala267Val, NP_001340627.1:p.Ala266Val, NP_001020258.1:p.Ala267Val, NP_001340674.1:p.Ala267Val, NP_001340667.1:p.Ala266Val, NP_001340653.1:p.Ala267Val, NP_001317532.1:p.Ala266Val, NP_001020259.1:p.Ala266Val, NP_001340647.1:p.Ala266Val, NP_001340631.1:p.Ala266Val, NP_001340641.1:p.Ala266Val, NP_001340681.1:p.Ala257Val, NP_001340677.1:p.Ala257Val, NP_001340638.1:p.Ala256Val, NP_001340644.1:p.Ala257Val, NP_001340684.1:p.Ala256Val, NP_001340682.1:p.Ala256Val, NP_001340679.1:p.Ala257Val, NP_001340650.1:p.Ala257Val, NP_001340639.1:p.Ala257Val, NP_001340624.1:p.Ala256Val, NP_001340654.1:p.Ala256Val, NP_001340643.1:p.Ala256Val, NP_001340640.1:p.Ala256Val, NP_001340637.1:p.Ala267Val, NP_001340672.1:p.Ala267Val, NP_001340652.1:p.Ala267Val, NP_001340625.1:p.Ala266Val, NP_001340683.1:p.Ala266Val, NP_001340676.1:p.Ala267Val, NP_001340665.1:p.Ala267Val, NP_001340659.1:p.Ala266Val, NP_001340658.1:p.Ala266Val, NP_001340666.1:p.Ala266Val, NP_001340645.1:p.Ala266Val, NP_001020260.1:p.Ala257Val, NP_001340648.1:p.Ala257Val, NP_001340642.1:p.Ala257Val, NP_001340629.1:p.Ala257Val, NP_001340626.1:p.Ala256Val, NP_001340661.1:p.Ala256Val, NP_001340656.1:p.Ala256Val, NP_001340649.1:p.Ala257Val, NP_001340635.1:p.Ala256Val, NP_001340628.1:p.Ala257Val, NP_001340651.1:p.Ala256Val, NP_001340685.1:p.Ala143Val, NP_001340690.1:p.Ala143Val, NP_001340686.1:p.Ala134Val, NP_001340689.1:p.Ala134Val, NP_001340688.1:p.Ala133Val, NP_001340687.1:p.Ala133Val, XP_047293584.1:p.Ala267Val, XP_047293585.1:p.Ala266Val, XP_047293588.1:p.Ala267Val, XP_047293589.1:p.Ala267Val, XP_047293591.1:p.Ala267Val, XP_047293590.1:p.Ala266Val, XP_047293586.1:p.Ala257Val, XP_047293587.1:p.Ala257Val, XP_047293592.1:p.Ala257Val, XP_047293593.1:p.Ala256Val, XP_047293625.1:p.Ala256Val, XP_047293594.1:p.Ala257Val, XP_047293627.1:p.Ala256Val, XP_047293595.1:p.Ala267Val, XP_047293598.1:p.Ala267Val, XP_047293597.1:p.Ala267Val, XP_047293596.1:p.Ala266Val, XP_047293601.1:p.Ala267Val, XP_047293600.1:p.Ala266Val, XP_047293599.1:p.Ala266Val, XP_047293602.1:p.Ala266Val, XP_047293609.1:p.Ala257Val, XP_047293626.1:p.Ala257Val, XP_047293604.1:p.Ala257Val, XP_047293603.1:p.Ala256Val, XP_047293607.1:p.Ala257Val, XP_047293606.1:p.Ala256Val, XP_047293605.1:p.Ala256Val, XP_047293608.1:p.Ala256Val, XP_047293610.1:p.Ala267Val, XP_047293613.1:p.Ala267Val, XP_047293612.1:p.Ala267Val, XP_047293611.1:p.Ala266Val, XP_047293616.1:p.Ala267Val, XP_047293615.1:p.Ala266Val, XP_047293614.1:p.Ala266Val, XP_047293617.1:p.Ala266Val, XP_047293618.1:p.Ala257Val, XP_047293621.1:p.Ala257Val, XP_047293620.1:p.Ala257Val, XP_047293619.1:p.Ala256Val, XP_047293624.1:p.Ala257Val, XP_047293623.1:p.Ala256Val, XP_047293622.1:p.Ala256Val

          5.

          rs1482983236 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            18:37275191 (GRCh38)
            18:34855154 (GRCh37)
            Canonical SPDI:
            NC_000018.10:37275190:G:A
            Gene:
            CELF4 (Varview), LOC105372068 (Varview)
            Functional Consequence:
            intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by cluster
            MAF:
            A=0.00028/5 (TOMMO)
            HGVS:
            NC_000018.10:g.37275191G>A, NC_000018.9:g.34855154G>A, NM_020180.4:c.501C>T, NM_020180.3:c.501C>T, NM_001353740.2:c.501C>T, NM_001353740.1:c.501C>T, NM_001353749.2:c.498C>T, NM_001353749.1:c.498C>T, NM_001353735.2:c.468C>T, NM_001353735.1:c.468C>T, NM_001353733.2:c.468C>T, NM_001353733.1:c.468C>T, NR_148527.2:n.658C>T, NR_148527.1:n.897C>T, NR_148528.2:n.655C>T, NR_148528.1:n.894C>T, NR_148526.2:n.658C>T, NR_148526.1:n.897C>T, NR_148521.2:n.658C>T, NR_148521.1:n.897C>T, NR_148520.2:n.658C>T, NR_148520.1:n.897C>T, NM_001353734.2:c.501C>T, NM_001353734.1:c.501C>T, NM_001353746.2:c.501C>T, NM_001353746.1:c.501C>T, NM_001353731.2:c.501C>T, NM_001353731.1:c.501C>T, NR_148523.2:n.628C>T, NR_148523.1:n.867C>T, NM_001353742.2:c.498C>T, NM_001353742.1:c.498C>T, NR_148525.2:n.625C>T, NR_148525.1:n.864C>T, NR_148524.2:n.628C>T, NR_148524.1:n.867C>T, NR_148522.2:n.625C>T, NR_148522.1:n.864C>T, NM_001353703.2:c.471C>T, NM_001353703.1:c.471C>T, NM_001353741.2:c.471C>T, NM_001353741.1:c.471C>T, NM_001353726.2:c.468C>T, NM_001353726.1:c.468C>T, NM_001353728.2:c.468C>T, NM_001353728.1:c.468C>T, NM_001353739.2:c.468C>T, NM_001353739.1:c.468C>T, NM_001353717.2:c.471C>T, NM_001353717.1:c.471C>T, NM_001353707.2:c.468C>T, NM_001353707.1:c.468C>T, NM_001353705.2:c.468C>T, NM_001353705.1:c.468C>T, NM_001353751.2:c.501C>T, NM_001353751.1:c.501C>T, NM_001353744.2:c.501C>T, NM_001353744.1:c.501C>T, NM_001353698.2:c.498C>T, NM_001353698.1:c.498C>T, NM_001025087.2:c.501C>T, NM_001025087.1:c.501C>T, NM_001353745.2:c.501C>T, NM_001353745.1:c.501C>T, NM_001353738.2:c.498C>T, NM_001353738.1:c.498C>T, NM_001353724.2:c.501C>T, NM_001353724.1:c.501C>T, NM_001330603.2:c.498C>T, NM_001330603.1:c.498C>T, NM_001025088.2:c.498C>T, NM_001025088.1:c.498C>T, NM_001353718.2:c.498C>T, NM_001353718.1:c.498C>T, NM_001353702.2:c.498C>T, NM_001353702.1:c.498C>T, NM_001353712.2:c.498C>T, NM_001353712.1:c.498C>T, NR_148518.2:n.625C>T, NR_148518.1:n.864C>T, NM_001353752.2:c.471C>T, NM_001353752.1:c.471C>T, NM_001353748.2:c.471C>T, NM_001353748.1:c.471C>T, NM_001353709.2:c.468C>T, NM_001353709.1:c.468C>T, NR_148519.2:n.625C>T, NR_148519.1:n.864C>T, NM_001353715.2:c.471C>T, NM_001353715.1:c.471C>T, NM_001353755.2:c.468C>T, NM_001353755.1:c.468C>T, NM_001353753.2:c.468C>T, NM_001353753.1:c.468C>T, NM_001353750.2:c.471C>T, NM_001353750.1:c.471C>T, NM_001353721.2:c.471C>T, NM_001353721.1:c.471C>T, NM_001353710.2:c.471C>T, NM_001353710.1:c.471C>T, NM_001353695.2:c.468C>T, NM_001353695.1:c.468C>T, NM_001353725.2:c.468C>T, NM_001353725.1:c.468C>T, NM_001353714.2:c.468C>T, NM_001353714.1:c.468C>T, NM_001353711.2:c.468C>T, NM_001353711.1:c.468C>T, NM_001353708.2:c.501C>T, NM_001353708.1:c.501C>T, NM_001353743.2:c.501C>T, NM_001353743.1:c.501C>T, NM_001353723.2:c.501C>T, NM_001353723.1:c.501C>T, NM_001353696.2:c.498C>T, NM_001353696.1:c.498C>T, NM_001353754.2:c.498C>T, NM_001353754.1:c.498C>T, NM_001353747.2:c.501C>T, NM_001353747.1:c.501C>T, NM_001353736.2:c.501C>T, NM_001353736.1:c.501C>T, NM_001353730.2:c.498C>T, NM_001353730.1:c.498C>T, NM_001353729.2:c.498C>T, NM_001353729.1:c.498C>T, NM_001353737.2:c.498C>T, NM_001353737.1:c.498C>T, NM_001353716.2:c.498C>T, NM_001353716.1:c.498C>T, NM_001025089.2:c.471C>T, NM_001025089.1:c.471C>T, NM_001353719.2:c.471C>T, NM_001353719.1:c.471C>T, NM_001353713.2:c.471C>T, NM_001353713.1:c.471C>T, NM_001353700.2:c.471C>T, NM_001353700.1:c.471C>T, NM_001353697.2:c.468C>T, NM_001353697.1:c.468C>T, NM_001353732.2:c.468C>T, NM_001353732.1:c.468C>T, NM_001353727.2:c.468C>T, NM_001353727.1:c.468C>T, NM_001353720.2:c.471C>T, NM_001353720.1:c.471C>T, NM_001353706.2:c.468C>T, NM_001353706.1:c.468C>T, NM_001353699.2:c.471C>T, NM_001353699.1:c.471C>T, NM_001353722.2:c.468C>T, NM_001353722.1:c.468C>T, NM_001353756.2:c.129C>T, NM_001353756.1:c.129C>T, NM_001353761.2:c.129C>T, NM_001353761.1:c.129C>T, NM_001353757.2:c.102C>T, NM_001353757.1:c.102C>T, NM_001353760.2:c.102C>T, NM_001353760.1:c.102C>T, NM_001353759.2:c.99C>T, NM_001353759.1:c.99C>T, NM_001353758.2:c.99C>T, NM_001353758.1:c.99C>T, XM_047437628.1:c.501C>T, XM_047437629.1:c.498C>T, XM_047437632.1:c.501C>T, XM_047437633.1:c.501C>T, XM_047437635.1:c.501C>T, XM_047437634.1:c.498C>T, XM_047437630.1:c.471C>T, XM_047437631.1:c.471C>T, XM_047437636.1:c.471C>T, XM_047437637.1:c.468C>T, XM_047437669.1:c.468C>T, XM_047437638.1:c.471C>T, XM_047437671.1:c.468C>T, XM_047437639.1:c.501C>T, XM_047437642.1:c.501C>T, XM_047437641.1:c.501C>T, XM_047437640.1:c.498C>T, XM_047437645.1:c.501C>T, XM_047437644.1:c.498C>T, XM_047437643.1:c.498C>T, XM_047437646.1:c.498C>T, XM_047437653.1:c.471C>T, XM_047437670.1:c.471C>T, XM_047437648.1:c.471C>T, XM_047437647.1:c.468C>T, XM_047437651.1:c.471C>T, XM_047437650.1:c.468C>T, XM_047437649.1:c.468C>T, XM_047437652.1:c.468C>T, XM_047437654.1:c.501C>T, XM_047437657.1:c.501C>T, XM_047437656.1:c.501C>T, XM_047437655.1:c.498C>T, XM_047437660.1:c.501C>T, XM_047437659.1:c.498C>T, XM_047437658.1:c.498C>T, XM_047437661.1:c.498C>T, XM_047437662.1:c.471C>T, XM_047437665.1:c.471C>T, XM_047437664.1:c.471C>T, XM_047437663.1:c.468C>T, XM_047437668.1:c.471C>T, XM_047437667.1:c.468C>T, XM_047437666.1:c.468C>T

            6.

            rs1482151634 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A,G [Show Flanks]
              Chromosome:
              18:37273134 (GRCh38)
              18:34853097 (GRCh37)
              Canonical SPDI:
              NC_000018.10:37273133:T:A,NC_000018.10:37273133:T:G
              Gene:
              CELF4 (Varview), LOC105372068 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.00003/1 (ALFA)
              HGVS:
              NC_000018.10:g.37273134T>A, NC_000018.10:g.37273134T>G, NC_000018.9:g.34853097T>A, NC_000018.9:g.34853097T>G, NM_020180.4:c.831A>T, NM_020180.4:c.831A>C, NM_020180.3:c.831A>T, NM_020180.3:c.831A>C, NM_001353740.2:c.831A>T, NM_001353740.2:c.831A>C, NM_001353740.1:c.831A>T, NM_001353740.1:c.831A>C, NM_001353749.2:c.828A>T, NM_001353749.2:c.828A>C, NM_001353749.1:c.828A>T, NM_001353749.1:c.828A>C, NM_001353735.2:c.798A>T, NM_001353735.2:c.798A>C, NM_001353735.1:c.798A>T, NM_001353735.1:c.798A>C, NM_001353733.2:c.795A>T, NM_001353733.2:c.795A>C, NM_001353733.1:c.795A>T, NM_001353733.1:c.795A>C, NR_148527.2:n.988A>T, NR_148527.2:n.988A>C, NR_148527.1:n.1227A>T, NR_148527.1:n.1227A>C, NR_148528.2:n.985A>T, NR_148528.2:n.985A>C, NR_148528.1:n.1224A>T, NR_148528.1:n.1224A>C, NR_148526.2:n.985A>T, NR_148526.2:n.985A>C, NR_148526.1:n.1224A>T, NR_148526.1:n.1224A>C, NR_148521.2:n.988A>T, NR_148521.2:n.988A>C, NR_148521.1:n.1227A>T, NR_148521.1:n.1227A>C, NR_148520.2:n.985A>T, NR_148520.2:n.985A>C, NR_148520.1:n.1224A>T, NR_148520.1:n.1224A>C, NM_001353734.2:c.831A>T, NM_001353734.2:c.831A>C, NM_001353734.1:c.831A>T, NM_001353734.1:c.831A>C, NM_001353746.2:c.828A>T, NM_001353746.2:c.828A>C, NM_001353746.1:c.828A>T, NM_001353746.1:c.828A>C, NM_001353731.2:c.831A>T, NM_001353731.2:c.831A>C, NM_001353731.1:c.831A>T, NM_001353731.1:c.831A>C, NR_148523.2:n.958A>T, NR_148523.2:n.958A>C, NR_148523.1:n.1197A>T, NR_148523.1:n.1197A>C, NM_001353742.2:c.828A>T, NM_001353742.2:c.828A>C, NM_001353742.1:c.828A>T, NM_001353742.1:c.828A>C, NR_148525.2:n.955A>T, NR_148525.2:n.955A>C, NR_148525.1:n.1194A>T, NR_148525.1:n.1194A>C, NR_148524.2:n.955A>T, NR_148524.2:n.955A>C, NR_148524.1:n.1194A>T, NR_148524.1:n.1194A>C, NR_148522.2:n.952A>T, NR_148522.2:n.952A>C, NR_148522.1:n.1191A>T, NR_148522.1:n.1191A>C, NM_001353703.2:c.801A>T, NM_001353703.2:c.801A>C, NM_001353703.1:c.801A>T, NM_001353703.1:c.801A>C, NM_001353741.2:c.798A>T, NM_001353741.2:c.798A>C, NM_001353741.1:c.798A>T, NM_001353741.1:c.798A>C, NM_001353726.2:c.798A>T, NM_001353726.2:c.798A>C, NM_001353726.1:c.798A>T, NM_001353726.1:c.798A>C, NM_001353728.2:c.798A>T, NM_001353728.2:c.798A>C, NM_001353728.1:c.798A>T, NM_001353728.1:c.798A>C, NM_001353739.2:c.795A>T, NM_001353739.2:c.795A>C, NM_001353739.1:c.795A>T, NM_001353739.1:c.795A>C, NM_001353717.2:c.801A>T, NM_001353717.2:c.801A>C, NM_001353717.1:c.801A>T, NM_001353717.1:c.801A>C, NM_001353707.2:c.798A>T, NM_001353707.2:c.798A>C, NM_001353707.1:c.798A>T, NM_001353707.1:c.798A>C, NM_001353705.2:c.795A>T, NM_001353705.2:c.795A>C, NM_001353705.1:c.795A>T, NM_001353705.1:c.795A>C, NM_001353751.2:c.831A>T, NM_001353751.2:c.831A>C, NM_001353751.1:c.831A>T, NM_001353751.1:c.831A>C, NM_001353744.2:c.831A>T, NM_001353744.2:c.831A>C, NM_001353744.1:c.831A>T, NM_001353744.1:c.831A>C, NM_001353698.2:c.828A>T, NM_001353698.2:c.828A>C, NM_001353698.1:c.828A>T, NM_001353698.1:c.828A>C, NM_001025087.2:c.828A>T, NM_001025087.2:c.828A>C, NM_001025087.1:c.828A>T, NM_001025087.1:c.828A>C, NM_001353745.2:c.828A>T, NM_001353745.2:c.828A>C, NM_001353745.1:c.828A>T, NM_001353745.1:c.828A>C, NM_001353738.2:c.828A>T, NM_001353738.2:c.828A>C, NM_001353738.1:c.828A>T, NM_001353738.1:c.828A>C, NM_001353724.2:c.831A>T, NM_001353724.2:c.831A>C, NM_001353724.1:c.831A>T, NM_001353724.1:c.831A>C, NM_001330603.2:c.828A>T, NM_001330603.2:c.828A>C, NM_001330603.1:c.828A>T, NM_001330603.1:c.828A>C, NM_001025088.2:c.825A>T, NM_001025088.2:c.825A>C, NM_001025088.1:c.825A>T, NM_001025088.1:c.825A>C, NM_001353718.2:c.828A>T, NM_001353718.2:c.828A>C, NM_001353718.1:c.828A>T, NM_001353718.1:c.828A>C, NM_001353702.2:c.825A>T, NM_001353702.2:c.825A>C, NM_001353702.1:c.825A>T, NM_001353702.1:c.825A>C, NM_001353712.2:c.825A>T, NM_001353712.2:c.825A>C, NM_001353712.1:c.825A>T, NM_001353712.1:c.825A>C, NR_148518.2:n.955A>T, NR_148518.2:n.955A>C, NR_148518.1:n.1194A>T, NR_148518.1:n.1194A>C, NM_001353752.2:c.798A>T, NM_001353752.2:c.798A>C, NM_001353752.1:c.798A>T, NM_001353752.1:c.798A>C, NM_001353748.2:c.801A>T, NM_001353748.2:c.801A>C, NM_001353748.1:c.801A>T, NM_001353748.1:c.801A>C, NM_001353709.2:c.798A>T, NM_001353709.2:c.798A>C, NM_001353709.1:c.798A>T, NM_001353709.1:c.798A>C, NR_148519.2:n.952A>T, NR_148519.2:n.952A>C, NR_148519.1:n.1191A>T, NR_148519.1:n.1191A>C, NM_001353715.2:c.801A>T, NM_001353715.2:c.801A>C, NM_001353715.1:c.801A>T, NM_001353715.1:c.801A>C, NM_001353755.2:c.795A>T, NM_001353755.2:c.795A>C, NM_001353755.1:c.795A>T, NM_001353755.1:c.795A>C, NM_001353753.2:c.798A>T, NM_001353753.2:c.798A>C, NM_001353753.1:c.798A>T, NM_001353753.1:c.798A>C, NM_001353750.2:c.798A>T, NM_001353750.2:c.798A>C, NM_001353750.1:c.798A>T, NM_001353750.1:c.798A>C, NM_001353721.2:c.798A>T, NM_001353721.2:c.798A>C, NM_001353721.1:c.798A>T, NM_001353721.1:c.798A>C, NM_001353710.2:c.801A>T, NM_001353710.2:c.801A>C, NM_001353710.1:c.801A>T, NM_001353710.1:c.801A>C, NM_001353695.2:c.798A>T, NM_001353695.2:c.798A>C, NM_001353695.1:c.798A>T, NM_001353695.1:c.798A>C, NM_001353725.2:c.795A>T, NM_001353725.2:c.795A>C, NM_001353725.1:c.795A>T, NM_001353725.1:c.795A>C, NM_001353714.2:c.798A>T, NM_001353714.2:c.798A>C, NM_001353714.1:c.798A>T, NM_001353714.1:c.798A>C, NM_001353711.2:c.795A>T, NM_001353711.2:c.795A>C, NM_001353711.1:c.795A>T, NM_001353711.1:c.795A>C, NM_001353708.2:c.831A>T, NM_001353708.2:c.831A>C, NM_001353708.1:c.831A>T, NM_001353708.1:c.831A>C, NM_001353743.2:c.831A>T, NM_001353743.2:c.831A>C, NM_001353743.1:c.831A>T, NM_001353743.1:c.831A>C, NM_001353723.2:c.828A>T, NM_001353723.2:c.828A>C, NM_001353723.1:c.828A>T, NM_001353723.1:c.828A>C, NM_001353696.2:c.828A>T, NM_001353696.2:c.828A>C, NM_001353696.1:c.828A>T, NM_001353696.1:c.828A>C, NM_001353754.2:c.825A>T, NM_001353754.2:c.825A>C, NM_001353754.1:c.825A>T, NM_001353754.1:c.825A>C, NM_001353747.2:c.828A>T, NM_001353747.2:c.828A>C, NM_001353747.1:c.828A>T, NM_001353747.1:c.828A>C, NM_001353736.2:c.831A>T, NM_001353736.2:c.831A>C, NM_001353736.1:c.831A>T, NM_001353736.1:c.831A>C, NM_001353730.2:c.828A>T, NM_001353730.2:c.828A>C, NM_001353730.1:c.828A>T, NM_001353730.1:c.828A>C, NM_001353729.2:c.828A>T, NM_001353729.2:c.828A>C, NM_001353729.1:c.828A>T, NM_001353729.1:c.828A>C, NM_001353737.2:c.828A>T, NM_001353737.2:c.828A>C, NM_001353737.1:c.828A>T, NM_001353737.1:c.828A>C, NM_001353716.2:c.825A>T, NM_001353716.2:c.825A>C, NM_001353716.1:c.825A>T, NM_001353716.1:c.825A>C, NM_001025089.2:c.801A>T, NM_001025089.2:c.801A>C, NM_001025089.1:c.801A>T, NM_001025089.1:c.801A>C, NM_001353719.2:c.801A>T, NM_001353719.2:c.801A>C, NM_001353719.1:c.801A>T, NM_001353719.1:c.801A>C, NM_001353713.2:c.798A>T, NM_001353713.2:c.798A>C, NM_001353713.1:c.798A>T, NM_001353713.1:c.798A>C, NM_001353700.2:c.801A>T, NM_001353700.2:c.801A>C, NM_001353700.1:c.801A>T, NM_001353700.1:c.801A>C, NM_001353697.2:c.798A>T, NM_001353697.2:c.798A>C, NM_001353697.1:c.798A>T, NM_001353697.1:c.798A>C, NM_001353732.2:c.798A>T, NM_001353732.2:c.798A>C, NM_001353732.1:c.798A>T, NM_001353732.1:c.798A>C, NM_001353727.2:c.798A>T, NM_001353727.2:c.798A>C, NM_001353727.1:c.798A>T, NM_001353727.1:c.798A>C, NM_001353720.2:c.801A>T, NM_001353720.2:c.801A>C, NM_001353720.1:c.801A>T, NM_001353720.1:c.801A>C, NM_001353706.2:c.795A>T, NM_001353706.2:c.795A>C, NM_001353706.1:c.795A>T, NM_001353706.1:c.795A>C, NM_001353699.2:c.798A>T, NM_001353699.2:c.798A>C, NM_001353699.1:c.798A>T, NM_001353699.1:c.798A>C, NM_001353722.2:c.795A>T, NM_001353722.2:c.795A>C, NM_001353722.1:c.795A>T, NM_001353722.1:c.795A>C, NM_001353756.2:c.459A>T, NM_001353756.2:c.459A>C, NM_001353756.1:c.459A>T, NM_001353756.1:c.459A>C, NM_001353761.2:c.459A>T, NM_001353761.2:c.459A>C, NM_001353761.1:c.459A>T, NM_001353761.1:c.459A>C, NM_001353757.2:c.432A>T, NM_001353757.2:c.432A>C, NM_001353757.1:c.432A>T, NM_001353757.1:c.432A>C, NM_001353760.2:c.432A>T, NM_001353760.2:c.432A>C, NM_001353760.1:c.432A>T, NM_001353760.1:c.432A>C, NM_001353759.2:c.429A>T, NM_001353759.2:c.429A>C, NM_001353759.1:c.429A>T, NM_001353759.1:c.429A>C, NM_001353758.2:c.429A>T, NM_001353758.2:c.429A>C, NM_001353758.1:c.429A>T, NM_001353758.1:c.429A>C, XM_047437628.1:c.831A>T, XM_047437628.1:c.831A>C, XM_047437629.1:c.828A>T, XM_047437629.1:c.828A>C, XM_047437632.1:c.831A>T, XM_047437632.1:c.831A>C, XM_047437633.1:c.831A>T, XM_047437633.1:c.831A>C, XM_047437635.1:c.831A>T, XM_047437635.1:c.831A>C, XM_047437634.1:c.828A>T, XM_047437634.1:c.828A>C, XM_047437630.1:c.801A>T, XM_047437630.1:c.801A>C, XM_047437631.1:c.801A>T, XM_047437631.1:c.801A>C, XM_047437636.1:c.801A>T, XM_047437636.1:c.801A>C, XM_047437637.1:c.798A>T, XM_047437637.1:c.798A>C, XM_047437669.1:c.798A>T, XM_047437669.1:c.798A>C, XM_047437638.1:c.801A>T, XM_047437638.1:c.801A>C, XM_047437671.1:c.798A>T, XM_047437671.1:c.798A>C, XM_047437639.1:c.831A>T, XM_047437639.1:c.831A>C, XM_047437642.1:c.831A>T, XM_047437642.1:c.831A>C, XM_047437641.1:c.831A>T, XM_047437641.1:c.831A>C, XM_047437640.1:c.828A>T, XM_047437640.1:c.828A>C, XM_047437645.1:c.831A>T, XM_047437645.1:c.831A>C, XM_047437644.1:c.828A>T, XM_047437644.1:c.828A>C, XM_047437643.1:c.828A>T, XM_047437643.1:c.828A>C, XM_047437646.1:c.828A>T, XM_047437646.1:c.828A>C, XM_047437653.1:c.801A>T, XM_047437653.1:c.801A>C, XM_047437670.1:c.801A>T, XM_047437670.1:c.801A>C, XM_047437648.1:c.801A>T, XM_047437648.1:c.801A>C, XM_047437647.1:c.798A>T, XM_047437647.1:c.798A>C, XM_047437651.1:c.801A>T, XM_047437651.1:c.801A>C, XM_047437650.1:c.798A>T, XM_047437650.1:c.798A>C, XM_047437649.1:c.798A>T, XM_047437649.1:c.798A>C, XM_047437652.1:c.798A>T, XM_047437652.1:c.798A>C, XM_047437654.1:c.831A>T, XM_047437654.1:c.831A>C, XM_047437657.1:c.831A>T, XM_047437657.1:c.831A>C, XM_047437656.1:c.831A>T, XM_047437656.1:c.831A>C, XM_047437655.1:c.828A>T, XM_047437655.1:c.828A>C, XM_047437660.1:c.831A>T, XM_047437660.1:c.831A>C, XM_047437659.1:c.828A>T, XM_047437659.1:c.828A>C, XM_047437658.1:c.828A>T, XM_047437658.1:c.828A>C, XM_047437661.1:c.828A>T, XM_047437661.1:c.828A>C, XM_047437662.1:c.801A>T, XM_047437662.1:c.801A>C, XM_047437665.1:c.801A>T, XM_047437665.1:c.801A>C, XM_047437664.1:c.801A>T, XM_047437664.1:c.801A>C, XM_047437663.1:c.798A>T, XM_047437663.1:c.798A>C, XM_047437668.1:c.801A>T, XM_047437668.1:c.801A>C, XM_047437667.1:c.798A>T, XM_047437667.1:c.798A>C, XM_047437666.1:c.798A>T, XM_047437666.1:c.798A>C

              7.

              rs1478100724 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                18:37274395 (GRCh38)
                18:34854358 (GRCh37)
                Canonical SPDI:
                NC_000018.10:37274394:C:T
                Gene:
                CELF4 (Varview), LOC105372068 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000018.10:g.37274395C>T, NC_000018.9:g.34854358C>T, NM_020180.4:c.717G>A, NM_020180.3:c.717G>A, NM_001353740.2:c.717G>A, NM_001353740.1:c.717G>A, NM_001353749.2:c.714G>A, NM_001353749.1:c.714G>A, NM_001353735.2:c.684G>A, NM_001353735.1:c.684G>A, NM_001353733.2:c.684G>A, NM_001353733.1:c.684G>A, NR_148527.2:n.874G>A, NR_148527.1:n.1113G>A, NR_148528.2:n.871G>A, NR_148528.1:n.1110G>A, NR_148526.2:n.874G>A, NR_148526.1:n.1113G>A, NR_148521.2:n.874G>A, NR_148521.1:n.1113G>A, NR_148520.2:n.874G>A, NR_148520.1:n.1113G>A, NM_001353734.2:c.717G>A, NM_001353734.1:c.717G>A, NM_001353746.2:c.717G>A, NM_001353746.1:c.717G>A, NM_001353731.2:c.717G>A, NM_001353731.1:c.717G>A, NR_148523.2:n.844G>A, NR_148523.1:n.1083G>A, NM_001353742.2:c.714G>A, NM_001353742.1:c.714G>A, NR_148525.2:n.841G>A, NR_148525.1:n.1080G>A, NR_148524.2:n.844G>A, NR_148524.1:n.1083G>A, NR_148522.2:n.841G>A, NR_148522.1:n.1080G>A, NM_001353703.2:c.687G>A, NM_001353703.1:c.687G>A, NM_001353741.2:c.687G>A, NM_001353741.1:c.687G>A, NM_001353726.2:c.684G>A, NM_001353726.1:c.684G>A, NM_001353728.2:c.684G>A, NM_001353728.1:c.684G>A, NM_001353739.2:c.684G>A, NM_001353739.1:c.684G>A, NM_001353717.2:c.687G>A, NM_001353717.1:c.687G>A, NM_001353707.2:c.684G>A, NM_001353707.1:c.684G>A, NM_001353705.2:c.684G>A, NM_001353705.1:c.684G>A, NM_001353751.2:c.717G>A, NM_001353751.1:c.717G>A, NM_001353744.2:c.717G>A, NM_001353744.1:c.717G>A, NM_001353698.2:c.714G>A, NM_001353698.1:c.714G>A, NM_001025087.2:c.717G>A, NM_001025087.1:c.717G>A, NM_001353745.2:c.717G>A, NM_001353745.1:c.717G>A, NM_001353738.2:c.714G>A, NM_001353738.1:c.714G>A, NM_001353724.2:c.717G>A, NM_001353724.1:c.717G>A, NM_001330603.2:c.714G>A, NM_001330603.1:c.714G>A, NM_001025088.2:c.714G>A, NM_001025088.1:c.714G>A, NM_001353718.2:c.714G>A, NM_001353718.1:c.714G>A, NM_001353702.2:c.714G>A, NM_001353702.1:c.714G>A, NM_001353712.2:c.714G>A, NM_001353712.1:c.714G>A, NR_148518.2:n.841G>A, NR_148518.1:n.1080G>A, NM_001353752.2:c.687G>A, NM_001353752.1:c.687G>A, NM_001353748.2:c.687G>A, NM_001353748.1:c.687G>A, NM_001353709.2:c.684G>A, NM_001353709.1:c.684G>A, NR_148519.2:n.841G>A, NR_148519.1:n.1080G>A, NM_001353715.2:c.687G>A, NM_001353715.1:c.687G>A, NM_001353755.2:c.684G>A, NM_001353755.1:c.684G>A, NM_001353753.2:c.684G>A, NM_001353753.1:c.684G>A, NM_001353750.2:c.687G>A, NM_001353750.1:c.687G>A, NM_001353721.2:c.687G>A, NM_001353721.1:c.687G>A, NM_001353710.2:c.687G>A, NM_001353710.1:c.687G>A, NM_001353695.2:c.684G>A, NM_001353695.1:c.684G>A, NM_001353725.2:c.684G>A, NM_001353725.1:c.684G>A, NM_001353714.2:c.684G>A, NM_001353714.1:c.684G>A, NM_001353711.2:c.684G>A, NM_001353711.1:c.684G>A, NM_001353708.2:c.717G>A, NM_001353708.1:c.717G>A, NM_001353743.2:c.717G>A, NM_001353743.1:c.717G>A, NM_001353723.2:c.717G>A, NM_001353723.1:c.717G>A, NM_001353696.2:c.714G>A, NM_001353696.1:c.714G>A, NM_001353754.2:c.714G>A, NM_001353754.1:c.714G>A, NM_001353747.2:c.717G>A, NM_001353747.1:c.717G>A, NM_001353736.2:c.717G>A, NM_001353736.1:c.717G>A, NM_001353730.2:c.714G>A, NM_001353730.1:c.714G>A, NM_001353729.2:c.714G>A, NM_001353729.1:c.714G>A, NM_001353737.2:c.714G>A, NM_001353737.1:c.714G>A, NM_001353716.2:c.714G>A, NM_001353716.1:c.714G>A, NM_001025089.2:c.687G>A, NM_001025089.1:c.687G>A, NM_001353719.2:c.687G>A, NM_001353719.1:c.687G>A, NM_001353713.2:c.687G>A, NM_001353713.1:c.687G>A, NM_001353700.2:c.687G>A, NM_001353700.1:c.687G>A, NM_001353697.2:c.684G>A, NM_001353697.1:c.684G>A, NM_001353732.2:c.684G>A, NM_001353732.1:c.684G>A, NM_001353727.2:c.684G>A, NM_001353727.1:c.684G>A, NM_001353720.2:c.687G>A, NM_001353720.1:c.687G>A, NM_001353706.2:c.684G>A, NM_001353706.1:c.684G>A, NM_001353699.2:c.687G>A, NM_001353699.1:c.687G>A, NM_001353722.2:c.684G>A, NM_001353722.1:c.684G>A, NM_001353756.2:c.345G>A, NM_001353756.1:c.345G>A, NM_001353761.2:c.345G>A, NM_001353761.1:c.345G>A, NM_001353757.2:c.318G>A, NM_001353757.1:c.318G>A, NM_001353760.2:c.318G>A, NM_001353760.1:c.318G>A, NM_001353759.2:c.315G>A, NM_001353759.1:c.315G>A, NM_001353758.2:c.315G>A, NM_001353758.1:c.315G>A, XM_047437628.1:c.717G>A, XM_047437629.1:c.714G>A, XM_047437632.1:c.717G>A, XM_047437633.1:c.717G>A, XM_047437635.1:c.717G>A, XM_047437634.1:c.714G>A, XM_047437630.1:c.687G>A, XM_047437631.1:c.687G>A, XM_047437636.1:c.687G>A, XM_047437637.1:c.684G>A, XM_047437669.1:c.684G>A, XM_047437638.1:c.687G>A, XM_047437671.1:c.684G>A, XM_047437639.1:c.717G>A, XM_047437642.1:c.717G>A, XM_047437641.1:c.717G>A, XM_047437640.1:c.714G>A, XM_047437645.1:c.717G>A, XM_047437644.1:c.714G>A, XM_047437643.1:c.714G>A, XM_047437646.1:c.714G>A, XM_047437653.1:c.687G>A, XM_047437670.1:c.687G>A, XM_047437648.1:c.687G>A, XM_047437647.1:c.684G>A, XM_047437651.1:c.687G>A, XM_047437650.1:c.684G>A, XM_047437649.1:c.684G>A, XM_047437652.1:c.684G>A, XM_047437654.1:c.717G>A, XM_047437657.1:c.717G>A, XM_047437656.1:c.717G>A, XM_047437655.1:c.714G>A, XM_047437660.1:c.717G>A, XM_047437659.1:c.714G>A, XM_047437658.1:c.714G>A, XM_047437661.1:c.714G>A, XM_047437662.1:c.687G>A, XM_047437665.1:c.687G>A, XM_047437664.1:c.687G>A, XM_047437663.1:c.684G>A, XM_047437668.1:c.687G>A, XM_047437667.1:c.684G>A, XM_047437666.1:c.684G>A

                8.

                rs1472894593 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  18:37273152 (GRCh38)
                  18:34853115 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:37273151:C:T
                  Gene:
                  CELF4 (Varview), LOC105372068 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000018.10:g.37273152C>T, NC_000018.9:g.34853115C>T, NM_020180.4:c.813G>A, NM_020180.3:c.813G>A, NM_001353740.2:c.813G>A, NM_001353740.1:c.813G>A, NM_001353749.2:c.810G>A, NM_001353749.1:c.810G>A, NM_001353735.2:c.780G>A, NM_001353735.1:c.780G>A, NM_001353733.2:c.777G>A, NM_001353733.1:c.777G>A, NR_148527.2:n.970G>A, NR_148527.1:n.1209G>A, NR_148528.2:n.967G>A, NR_148528.1:n.1206G>A, NR_148526.2:n.967G>A, NR_148526.1:n.1206G>A, NR_148521.2:n.970G>A, NR_148521.1:n.1209G>A, NR_148520.2:n.967G>A, NR_148520.1:n.1206G>A, NM_001353734.2:c.813G>A, NM_001353734.1:c.813G>A, NM_001353746.2:c.810G>A, NM_001353746.1:c.810G>A, NM_001353731.2:c.813G>A, NM_001353731.1:c.813G>A, NR_148523.2:n.940G>A, NR_148523.1:n.1179G>A, NM_001353742.2:c.810G>A, NM_001353742.1:c.810G>A, NR_148525.2:n.937G>A, NR_148525.1:n.1176G>A, NR_148524.2:n.937G>A, NR_148524.1:n.1176G>A, NR_148522.2:n.934G>A, NR_148522.1:n.1173G>A, NM_001353703.2:c.783G>A, NM_001353703.1:c.783G>A, NM_001353741.2:c.780G>A, NM_001353741.1:c.780G>A, NM_001353726.2:c.780G>A, NM_001353726.1:c.780G>A, NM_001353728.2:c.780G>A, NM_001353728.1:c.780G>A, NM_001353739.2:c.777G>A, NM_001353739.1:c.777G>A, NM_001353717.2:c.783G>A, NM_001353717.1:c.783G>A, NM_001353707.2:c.780G>A, NM_001353707.1:c.780G>A, NM_001353705.2:c.777G>A, NM_001353705.1:c.777G>A, NM_001353751.2:c.813G>A, NM_001353751.1:c.813G>A, NM_001353744.2:c.813G>A, NM_001353744.1:c.813G>A, NM_001353698.2:c.810G>A, NM_001353698.1:c.810G>A, NM_001025087.2:c.810G>A, NM_001025087.1:c.810G>A, NM_001353745.2:c.810G>A, NM_001353745.1:c.810G>A, NM_001353738.2:c.810G>A, NM_001353738.1:c.810G>A, NM_001353724.2:c.813G>A, NM_001353724.1:c.813G>A, NM_001330603.2:c.810G>A, NM_001330603.1:c.810G>A, NM_001025088.2:c.807G>A, NM_001025088.1:c.807G>A, NM_001353718.2:c.810G>A, NM_001353718.1:c.810G>A, NM_001353702.2:c.807G>A, NM_001353702.1:c.807G>A, NM_001353712.2:c.807G>A, NM_001353712.1:c.807G>A, NR_148518.2:n.937G>A, NR_148518.1:n.1176G>A, NM_001353752.2:c.780G>A, NM_001353752.1:c.780G>A, NM_001353748.2:c.783G>A, NM_001353748.1:c.783G>A, NM_001353709.2:c.780G>A, NM_001353709.1:c.780G>A, NR_148519.2:n.934G>A, NR_148519.1:n.1173G>A, NM_001353715.2:c.783G>A, NM_001353715.1:c.783G>A, NM_001353755.2:c.777G>A, NM_001353755.1:c.777G>A, NM_001353753.2:c.780G>A, NM_001353753.1:c.780G>A, NM_001353750.2:c.780G>A, NM_001353750.1:c.780G>A, NM_001353721.2:c.780G>A, NM_001353721.1:c.780G>A, NM_001353710.2:c.783G>A, NM_001353710.1:c.783G>A, NM_001353695.2:c.780G>A, NM_001353695.1:c.780G>A, NM_001353725.2:c.777G>A, NM_001353725.1:c.777G>A, NM_001353714.2:c.780G>A, NM_001353714.1:c.780G>A, NM_001353711.2:c.777G>A, NM_001353711.1:c.777G>A, NM_001353708.2:c.813G>A, NM_001353708.1:c.813G>A, NM_001353743.2:c.813G>A, NM_001353743.1:c.813G>A, NM_001353723.2:c.810G>A, NM_001353723.1:c.810G>A, NM_001353696.2:c.810G>A, NM_001353696.1:c.810G>A, NM_001353754.2:c.807G>A, NM_001353754.1:c.807G>A, NM_001353747.2:c.810G>A, NM_001353747.1:c.810G>A, NM_001353736.2:c.813G>A, NM_001353736.1:c.813G>A, NM_001353730.2:c.810G>A, NM_001353730.1:c.810G>A, NM_001353729.2:c.810G>A, NM_001353729.1:c.810G>A, NM_001353737.2:c.810G>A, NM_001353737.1:c.810G>A, NM_001353716.2:c.807G>A, NM_001353716.1:c.807G>A, NM_001025089.2:c.783G>A, NM_001025089.1:c.783G>A, NM_001353719.2:c.783G>A, NM_001353719.1:c.783G>A, NM_001353713.2:c.780G>A, NM_001353713.1:c.780G>A, NM_001353700.2:c.783G>A, NM_001353700.1:c.783G>A, NM_001353697.2:c.780G>A, NM_001353697.1:c.780G>A, NM_001353732.2:c.780G>A, NM_001353732.1:c.780G>A, NM_001353727.2:c.780G>A, NM_001353727.1:c.780G>A, NM_001353720.2:c.783G>A, NM_001353720.1:c.783G>A, NM_001353706.2:c.777G>A, NM_001353706.1:c.777G>A, NM_001353699.2:c.780G>A, NM_001353699.1:c.780G>A, NM_001353722.2:c.777G>A, NM_001353722.1:c.777G>A, NM_001353756.2:c.441G>A, NM_001353756.1:c.441G>A, NM_001353761.2:c.441G>A, NM_001353761.1:c.441G>A, NM_001353757.2:c.414G>A, NM_001353757.1:c.414G>A, NM_001353760.2:c.414G>A, NM_001353760.1:c.414G>A, NM_001353759.2:c.411G>A, NM_001353759.1:c.411G>A, NM_001353758.2:c.411G>A, NM_001353758.1:c.411G>A, XM_047437628.1:c.813G>A, XM_047437629.1:c.810G>A, XM_047437632.1:c.813G>A, XM_047437633.1:c.813G>A, XM_047437635.1:c.813G>A, XM_047437634.1:c.810G>A, XM_047437630.1:c.783G>A, XM_047437631.1:c.783G>A, XM_047437636.1:c.783G>A, XM_047437637.1:c.780G>A, XM_047437669.1:c.780G>A, XM_047437638.1:c.783G>A, XM_047437671.1:c.780G>A, XM_047437639.1:c.813G>A, XM_047437642.1:c.813G>A, XM_047437641.1:c.813G>A, XM_047437640.1:c.810G>A, XM_047437645.1:c.813G>A, XM_047437644.1:c.810G>A, XM_047437643.1:c.810G>A, XM_047437646.1:c.810G>A, XM_047437653.1:c.783G>A, XM_047437670.1:c.783G>A, XM_047437648.1:c.783G>A, XM_047437647.1:c.780G>A, XM_047437651.1:c.783G>A, XM_047437650.1:c.780G>A, XM_047437649.1:c.780G>A, XM_047437652.1:c.780G>A, XM_047437654.1:c.813G>A, XM_047437657.1:c.813G>A, XM_047437656.1:c.813G>A, XM_047437655.1:c.810G>A, XM_047437660.1:c.813G>A, XM_047437659.1:c.810G>A, XM_047437658.1:c.810G>A, XM_047437661.1:c.810G>A, XM_047437662.1:c.783G>A, XM_047437665.1:c.783G>A, XM_047437664.1:c.783G>A, XM_047437663.1:c.780G>A, XM_047437668.1:c.783G>A, XM_047437667.1:c.780G>A, XM_047437666.1:c.780G>A

                  9.

                  rs1471282637 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    18:37253869 (GRCh38)
                    18:34833832 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:37253868:C:T
                    Gene:
                    CELF4 (Varview)
                    Functional Consequence:
                    missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000018.10:g.37253869C>T, NC_000018.9:g.34833832C>T, NM_020180.4:c.1403G>A, NM_020180.3:c.1403G>A, NM_001353740.2:c.1482G>A, NM_001353740.1:c.1482G>A, NM_001353749.2:c.1479G>A, NM_001353749.1:c.1479G>A, NM_001353735.2:c.1449G>A, NM_001353735.1:c.1449G>A, NM_001353733.2:c.1440G>A, NM_001353733.1:c.1440G>A, NR_148527.2:n.1560G>A, NR_148527.1:n.1799G>A, NR_148528.2:n.1557G>A, NR_148528.1:n.1796G>A, NR_148526.2:n.1557G>A, NR_148526.1:n.1796G>A, NR_148521.2:n.1557G>A, NR_148521.1:n.1796G>A, NR_148520.2:n.1554G>A, NR_148520.1:n.1793G>A, NM_001353734.2:c.1482G>A, NM_001353734.1:c.1482G>A, NM_001353746.2:c.1479G>A, NM_001353746.1:c.1479G>A, NM_001353731.2:c.1479G>A, NM_001353731.1:c.1479G>A, NR_148523.2:n.1530G>A, NR_148523.1:n.1769G>A, NM_001353742.2:c.1457G>A, NM_001353742.1:c.1457G>A, NR_148525.2:n.1527G>A, NR_148525.1:n.1766G>A, NR_148524.2:n.1527G>A, NR_148524.1:n.1766G>A, NR_148522.2:n.1524G>A, NR_148522.1:n.1763G>A, NM_001353703.2:c.1452G>A, NM_001353703.1:c.1452G>A, NM_001353741.2:c.1449G>A, NM_001353741.1:c.1449G>A, NM_001353726.2:c.1449G>A, NM_001353726.1:c.1449G>A, NM_001353728.2:c.1446G>A, NM_001353728.1:c.1446G>A, NM_001353739.2:c.1443G>A, NM_001353739.1:c.1443G>A, NM_001353717.2:c.1433G>A, NM_001353717.1:c.1433G>A, NM_001353707.2:c.1430G>A, NM_001353707.1:c.1430G>A, NM_001353705.2:c.1424G>A, NM_001353705.1:c.1424G>A, NM_001353751.2:c.1400G>A, NM_001353751.1:c.1400G>A, NM_001353744.2:c.1400G>A, NM_001353744.1:c.1400G>A, NM_001353698.2:c.1400G>A, NM_001353698.1:c.1400G>A, NM_001025087.2:c.1400G>A, NM_001025087.1:c.1400G>A, NM_001353745.2:c.1397G>A, NM_001353745.1:c.1397G>A, NM_001353738.2:c.1397G>A, NM_001353738.1:c.1397G>A, NM_001353724.2:c.1397G>A, NM_001353724.1:c.1397G>A, NM_001330603.2:c.1397G>A, NM_001330603.1:c.1397G>A, NM_001025088.2:c.1397G>A, NM_001025088.1:c.1397G>A, NM_001353718.2:c.1394G>A, NM_001353718.1:c.1394G>A, NM_001353702.2:c.1394G>A, NM_001353702.1:c.1394G>A, NM_001353712.2:c.1391G>A, NM_001353712.1:c.1391G>A, NR_148518.2:n.1443G>A, NR_148518.1:n.1682G>A, NM_001353752.2:c.1370G>A, NM_001353752.1:c.1370G>A, NM_001353748.2:c.1370G>A, NM_001353748.1:c.1370G>A, NM_001353709.2:c.1370G>A, NM_001353709.1:c.1370G>A, NR_148519.2:n.1440G>A, NR_148519.1:n.1679G>A, NM_001353715.2:c.1368G>A, NM_001353715.1:c.1368G>A, NM_001353755.2:c.1367G>A, NM_001353755.1:c.1367G>A, NM_001353753.2:c.1367G>A, NM_001353753.1:c.1367G>A, NM_001353750.2:c.1367G>A, NM_001353750.1:c.1367G>A, NM_001353721.2:c.1367G>A, NM_001353721.1:c.1367G>A, NM_001353710.2:c.1367G>A, NM_001353710.1:c.1367G>A, NM_001353695.2:c.1367G>A, NM_001353695.1:c.1367G>A, NM_001353725.2:c.1364G>A, NM_001353725.1:c.1364G>A, NM_001353714.2:c.1364G>A, NM_001353714.1:c.1364G>A, NM_001353711.2:c.1364G>A, NM_001353711.1:c.1364G>A, NM_001353708.2:c.1319G>A, NM_001353708.1:c.1319G>A, NM_001353743.2:c.1316G>A, NM_001353743.1:c.1316G>A, NM_001353723.2:c.1316G>A, NM_001353723.1:c.1316G>A, NM_001353696.2:c.1316G>A, NM_001353696.1:c.1316G>A, NM_001353754.2:c.1313G>A, NM_001353754.1:c.1313G>A, NM_001353747.2:c.1313G>A, NM_001353747.1:c.1313G>A, NM_001353736.2:c.1313G>A, NM_001353736.1:c.1313G>A, NM_001353730.2:c.1313G>A, NM_001353730.1:c.1313G>A, NM_001353729.2:c.1313G>A, NM_001353729.1:c.1313G>A, NM_001353737.2:c.1310G>A, NM_001353737.1:c.1310G>A, NM_001353716.2:c.1310G>A, NM_001353716.1:c.1310G>A, NM_001025089.2:c.1289G>A, NM_001025089.1:c.1289G>A, NM_001353719.2:c.1286G>A, NM_001353719.1:c.1286G>A, NM_001353713.2:c.1286G>A, NM_001353713.1:c.1286G>A, NM_001353700.2:c.1286G>A, NM_001353700.1:c.1286G>A, NM_001353697.2:c.1286G>A, NM_001353697.1:c.1286G>A, NM_001353732.2:c.1283G>A, NM_001353732.1:c.1283G>A, NM_001353727.2:c.1283G>A, NM_001353727.1:c.1283G>A, NM_001353720.2:c.1283G>A, NM_001353720.1:c.1283G>A, NM_001353706.2:c.1283G>A, NM_001353706.1:c.1283G>A, NM_001353699.2:c.1283G>A, NM_001353699.1:c.1283G>A, NM_001353722.2:c.1280G>A, NM_001353722.1:c.1280G>A, NM_001353756.2:c.1031G>A, NM_001353756.1:c.1031G>A, NM_001353761.2:c.1028G>A, NM_001353761.1:c.1028G>A, NM_001353757.2:c.1004G>A, NM_001353757.1:c.1004G>A, NM_001353760.2:c.1001G>A, NM_001353760.1:c.1001G>A, NM_001353759.2:c.1001G>A, NM_001353759.1:c.1001G>A, NM_001353758.2:c.917G>A, NM_001353758.1:c.917G>A, XM_047437628.1:c.1482G>A, XM_047437629.1:c.1479G>A, XM_047437632.1:c.1463G>A, XM_047437633.1:c.1460G>A, XM_047437635.1:c.1457G>A, XM_047437634.1:c.1457G>A, XM_047437630.1:c.1452G>A, XM_047437631.1:c.1449G>A, XM_047437636.1:c.1433G>A, XM_047437637.1:c.1430G>A, XM_047437669.1:c.1427G>A, XM_047437638.1:c.1427G>A, XM_047437671.1:c.1424G>A, XM_047437639.1:c.1403G>A, XM_047437642.1:c.1400G>A, XM_047437641.1:c.1400G>A, XM_047437640.1:c.1400G>A, XM_047437645.1:c.1397G>A, XM_047437644.1:c.1397G>A, XM_047437643.1:c.1397G>A, XM_047437646.1:c.1394G>A, XM_047437653.1:c.1373G>A, XM_047437670.1:c.1370G>A, XM_047437648.1:c.1370G>A, XM_047437647.1:c.1370G>A, XM_047437651.1:c.1367G>A, XM_047437650.1:c.1367G>A, XM_047437649.1:c.1367G>A, XM_047437652.1:c.1364G>A, XM_047437654.1:c.1319G>A, XM_047437657.1:c.1316G>A, XM_047437656.1:c.1316G>A, XM_047437655.1:c.1316G>A, XM_047437660.1:c.1313G>A, XM_047437659.1:c.1313G>A, XM_047437658.1:c.1313G>A, XM_047437661.1:c.1310G>A, XM_047437662.1:c.1289G>A, XM_047437665.1:c.1286G>A, XM_047437664.1:c.1286G>A, XM_047437663.1:c.1286G>A, XM_047437668.1:c.1283G>A, XM_047437667.1:c.1283G>A, XM_047437666.1:c.1283G>A, NP_064565.1:p.Gly468Asp, NP_001340671.1:p.Gly486Asp, NP_001340646.1:p.Gly478Asp, NP_001340636.1:p.Gly477Asp, NP_001340634.1:p.Gly475Asp, NP_001340680.1:p.Gly467Asp, NP_001340673.1:p.Gly467Asp, NP_001340627.1:p.Gly467Asp, NP_001020258.1:p.Gly467Asp, NP_001340674.1:p.Gly466Asp, NP_001340667.1:p.Gly466Asp, NP_001340653.1:p.Gly466Asp, NP_001317532.1:p.Gly466Asp, NP_001020259.1:p.Gly466Asp, NP_001340647.1:p.Gly465Asp, NP_001340631.1:p.Gly465Asp, NP_001340641.1:p.Gly464Asp, NP_001340681.1:p.Gly457Asp, NP_001340677.1:p.Gly457Asp, NP_001340638.1:p.Gly457Asp, NP_001340684.1:p.Gly456Asp, NP_001340682.1:p.Gly456Asp, NP_001340679.1:p.Gly456Asp, NP_001340650.1:p.Gly456Asp, NP_001340639.1:p.Gly456Asp, NP_001340624.1:p.Gly456Asp, NP_001340654.1:p.Gly455Asp, NP_001340643.1:p.Gly455Asp, NP_001340640.1:p.Gly455Asp, NP_001340637.1:p.Gly440Asp, NP_001340672.1:p.Gly439Asp, NP_001340652.1:p.Gly439Asp, NP_001340625.1:p.Gly439Asp, NP_001340683.1:p.Gly438Asp, NP_001340676.1:p.Gly438Asp, NP_001340665.1:p.Gly438Asp, NP_001340659.1:p.Gly438Asp, NP_001340658.1:p.Gly438Asp, NP_001340666.1:p.Gly437Asp, NP_001340645.1:p.Gly437Asp, NP_001020260.1:p.Gly430Asp, NP_001340648.1:p.Gly429Asp, NP_001340642.1:p.Gly429Asp, NP_001340629.1:p.Gly429Asp, NP_001340626.1:p.Gly429Asp, NP_001340661.1:p.Gly428Asp, NP_001340656.1:p.Gly428Asp, NP_001340649.1:p.Gly428Asp, NP_001340635.1:p.Gly428Asp, NP_001340628.1:p.Gly428Asp, NP_001340651.1:p.Gly427Asp, NP_001340685.1:p.Gly344Asp, NP_001340690.1:p.Gly343Asp, NP_001340686.1:p.Gly335Asp, NP_001340689.1:p.Gly334Asp, NP_001340688.1:p.Gly334Asp, NP_001340687.1:p.Gly306Asp, XP_047293588.1:p.Gly488Asp, XP_047293589.1:p.Gly487Asp, XP_047293591.1:p.Gly486Asp, XP_047293590.1:p.Gly486Asp, XP_047293592.1:p.Gly478Asp, XP_047293593.1:p.Gly477Asp, XP_047293625.1:p.Gly476Asp, XP_047293594.1:p.Gly476Asp, XP_047293627.1:p.Gly475Asp, XP_047293595.1:p.Gly468Asp, XP_047293598.1:p.Gly467Asp, XP_047293597.1:p.Gly467Asp, XP_047293596.1:p.Gly467Asp, XP_047293601.1:p.Gly466Asp, XP_047293600.1:p.Gly466Asp, XP_047293599.1:p.Gly466Asp, XP_047293602.1:p.Gly465Asp, XP_047293609.1:p.Gly458Asp, XP_047293626.1:p.Gly457Asp, XP_047293604.1:p.Gly457Asp, XP_047293603.1:p.Gly457Asp, XP_047293607.1:p.Gly456Asp, XP_047293606.1:p.Gly456Asp, XP_047293605.1:p.Gly456Asp, XP_047293608.1:p.Gly455Asp, XP_047293610.1:p.Gly440Asp, XP_047293613.1:p.Gly439Asp, XP_047293612.1:p.Gly439Asp, XP_047293611.1:p.Gly439Asp, XP_047293616.1:p.Gly438Asp, XP_047293615.1:p.Gly438Asp, XP_047293614.1:p.Gly438Asp, XP_047293617.1:p.Gly437Asp, XP_047293618.1:p.Gly430Asp, XP_047293621.1:p.Gly429Asp, XP_047293620.1:p.Gly429Asp, XP_047293619.1:p.Gly429Asp, XP_047293624.1:p.Gly428Asp, XP_047293623.1:p.Gly428Asp, XP_047293622.1:p.Gly428Asp

                    10.

                    rs1470498261 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      18:37565573 (GRCh38)
                      18:35145536 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:37565572:G:C
                      Gene:
                      CELF4 (Varview), LOC124904288 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000008/2 (GnomAD_exomes)
                      HGVS:
                      NC_000018.10:g.37565573G>C, NC_000018.9:g.35145536G>C, NM_020180.4:c.69C>G, NM_020180.3:c.69C>G, NM_001353740.2:c.69C>G, NM_001353740.1:c.69C>G, NM_001353749.2:c.69C>G, NM_001353749.1:c.69C>G, NM_001353735.2:c.69C>G, NM_001353735.1:c.69C>G, NM_001353733.2:c.69C>G, NM_001353733.1:c.69C>G, NR_148527.2:n.226C>G, NR_148527.1:n.465C>G, NR_148528.2:n.226C>G, NR_148528.1:n.465C>G, NR_148526.2:n.226C>G, NR_148526.1:n.465C>G, NR_148521.2:n.226C>G, NR_148521.1:n.465C>G, NR_148520.2:n.226C>G, NR_148520.1:n.465C>G, NM_001353734.2:c.69C>G, NM_001353734.1:c.69C>G, NM_001353746.2:c.69C>G, NM_001353746.1:c.69C>G, NM_001353731.2:c.69C>G, NM_001353731.1:c.69C>G, NR_148523.2:n.226C>G, NR_148523.1:n.465C>G, NM_001353742.2:c.69C>G, NM_001353742.1:c.69C>G, NR_148525.2:n.226C>G, NR_148525.1:n.465C>G, NR_148524.2:n.226C>G, NR_148524.1:n.465C>G, NR_148522.2:n.226C>G, NR_148522.1:n.465C>G, NM_001353703.2:c.69C>G, NM_001353703.1:c.69C>G, NM_001353741.2:c.69C>G, NM_001353741.1:c.69C>G, NM_001353726.2:c.69C>G, NM_001353726.1:c.69C>G, NM_001353728.2:c.69C>G, NM_001353728.1:c.69C>G, NM_001353739.2:c.69C>G, NM_001353739.1:c.69C>G, NM_001353717.2:c.69C>G, NM_001353717.1:c.69C>G, NM_001353707.2:c.69C>G, NM_001353707.1:c.69C>G, NM_001353705.2:c.69C>G, NM_001353705.1:c.69C>G, NM_001353751.2:c.69C>G, NM_001353751.1:c.69C>G, NM_001353744.2:c.69C>G, NM_001353744.1:c.69C>G, NM_001353698.2:c.69C>G, NM_001353698.1:c.69C>G, NM_001025087.2:c.69C>G, NM_001025087.1:c.69C>G, NM_001353745.2:c.69C>G, NM_001353745.1:c.69C>G, NM_001353738.2:c.69C>G, NM_001353738.1:c.69C>G, NM_001353724.2:c.69C>G, NM_001353724.1:c.69C>G, NM_001330603.2:c.69C>G, NM_001330603.1:c.69C>G, NM_001025088.2:c.69C>G, NM_001025088.1:c.69C>G, NM_001353718.2:c.69C>G, NM_001353718.1:c.69C>G, NM_001353702.2:c.69C>G, NM_001353702.1:c.69C>G, NM_001353712.2:c.69C>G, NM_001353712.1:c.69C>G, NR_148518.2:n.226C>G, NR_148518.1:n.465C>G, NM_001353752.2:c.69C>G, NM_001353752.1:c.69C>G, NM_001353748.2:c.69C>G, NM_001353748.1:c.69C>G, NM_001353709.2:c.69C>G, NM_001353709.1:c.69C>G, NR_148519.2:n.226C>G, NR_148519.1:n.465C>G, NM_001353715.2:c.69C>G, NM_001353715.1:c.69C>G, NM_001353755.2:c.69C>G, NM_001353755.1:c.69C>G, NM_001353753.2:c.69C>G, NM_001353753.1:c.69C>G, NM_001353750.2:c.69C>G, NM_001353750.1:c.69C>G, NM_001353721.2:c.69C>G, NM_001353721.1:c.69C>G, NM_001353710.2:c.69C>G, NM_001353710.1:c.69C>G, NM_001353695.2:c.69C>G, NM_001353695.1:c.69C>G, NM_001353725.2:c.69C>G, NM_001353725.1:c.69C>G, NM_001353714.2:c.69C>G, NM_001353714.1:c.69C>G, NM_001353711.2:c.69C>G, NM_001353711.1:c.69C>G, NM_001353708.2:c.69C>G, NM_001353708.1:c.69C>G, NM_001353743.2:c.69C>G, NM_001353743.1:c.69C>G, NM_001353723.2:c.69C>G, NM_001353723.1:c.69C>G, NM_001353696.2:c.69C>G, NM_001353696.1:c.69C>G, NM_001353754.2:c.69C>G, NM_001353754.1:c.69C>G, NM_001353747.2:c.69C>G, NM_001353747.1:c.69C>G, NM_001353736.2:c.69C>G, NM_001353736.1:c.69C>G, NM_001353730.2:c.69C>G, NM_001353730.1:c.69C>G, NM_001353729.2:c.69C>G, NM_001353729.1:c.69C>G, NM_001353737.2:c.69C>G, NM_001353737.1:c.69C>G, NM_001353716.2:c.69C>G, NM_001353716.1:c.69C>G, NM_001025089.2:c.69C>G, NM_001025089.1:c.69C>G, NM_001353719.2:c.69C>G, NM_001353719.1:c.69C>G, NM_001353713.2:c.69C>G, NM_001353713.1:c.69C>G, NM_001353700.2:c.69C>G, NM_001353700.1:c.69C>G, NM_001353697.2:c.69C>G, NM_001353697.1:c.69C>G, NM_001353732.2:c.69C>G, NM_001353732.1:c.69C>G, NM_001353727.2:c.69C>G, NM_001353727.1:c.69C>G, NM_001353720.2:c.69C>G, NM_001353720.1:c.69C>G, NM_001353706.2:c.69C>G, NM_001353706.1:c.69C>G, NM_001353699.2:c.69C>G, NM_001353699.1:c.69C>G, NM_001353722.2:c.69C>G, NM_001353722.1:c.69C>G, NM_001353701.2:c.69C>G, NM_001353701.1:c.69C>G, XM_047437628.1:c.69C>G, XM_047437629.1:c.69C>G, XM_047437632.1:c.69C>G, XM_047437633.1:c.69C>G, XM_047437635.1:c.69C>G, XM_047437634.1:c.69C>G, XM_047437630.1:c.69C>G, XM_047437631.1:c.69C>G, XM_047437636.1:c.69C>G, XM_047437637.1:c.69C>G, XM_047437669.1:c.69C>G, XM_047437638.1:c.69C>G, XM_047437671.1:c.69C>G, XM_047437639.1:c.69C>G, XM_047437642.1:c.69C>G, XM_047437641.1:c.69C>G, XM_047437640.1:c.69C>G, XM_047437645.1:c.69C>G, XM_047437644.1:c.69C>G, XM_047437643.1:c.69C>G, XM_047437646.1:c.69C>G, XM_047437653.1:c.69C>G, XM_047437670.1:c.69C>G, XM_047437648.1:c.69C>G, XM_047437647.1:c.69C>G, XM_047437651.1:c.69C>G, XM_047437650.1:c.69C>G, XM_047437649.1:c.69C>G, XM_047437652.1:c.69C>G, XM_047437654.1:c.69C>G, XM_047437657.1:c.69C>G, XM_047437656.1:c.69C>G, XM_047437655.1:c.69C>G, XM_047437660.1:c.69C>G, XM_047437659.1:c.69C>G, XM_047437658.1:c.69C>G, XM_047437661.1:c.69C>G, XM_047437662.1:c.69C>G, XM_047437665.1:c.69C>G, XM_047437664.1:c.69C>G, XM_047437663.1:c.69C>G, XM_047437668.1:c.69C>G, XM_047437667.1:c.69C>G, XM_047437666.1:c.69C>G

                      11.

                      rs1468348949 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        18:37264696 (GRCh38)
                        18:34844659 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:37264695:C:T
                        Gene:
                        CELF4 (Varview)
                        Functional Consequence:
                        missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.00001/2 (GnomAD_exomes)
                        T=0.000038/10 (TOPMED)
                        T=0.00005/7 (GnomAD)
                        HGVS:
                        NC_000018.10:g.37264696C>T, NC_000018.9:g.34844659C>T, NM_020180.4:c.1227G>A, NM_020180.3:c.1227G>A, NM_001353740.2:c.1227G>A, NM_001353740.1:c.1227G>A, NM_001353749.2:c.1224G>A, NM_001353749.1:c.1224G>A, NM_001353735.2:c.1194G>A, NM_001353735.1:c.1194G>A, NM_001353733.2:c.1185G>A, NM_001353733.1:c.1185G>A, NR_148527.2:n.1384G>A, NR_148527.1:n.1623G>A, NR_148528.2:n.1381G>A, NR_148528.1:n.1620G>A, NR_148526.2:n.1381G>A, NR_148526.1:n.1620G>A, NR_148521.2:n.1381G>A, NR_148521.1:n.1620G>A, NR_148520.2:n.1378G>A, NR_148520.1:n.1617G>A, NM_001353734.2:c.1227G>A, NM_001353734.1:c.1227G>A, NM_001353746.2:c.1224G>A, NM_001353746.1:c.1224G>A, NM_001353731.2:c.1224G>A, NM_001353731.1:c.1224G>A, NR_148523.2:n.1354G>A, NR_148523.1:n.1593G>A, NM_001353742.2:c.1221G>A, NM_001353742.1:c.1221G>A, NR_148525.2:n.1351G>A, NR_148525.1:n.1590G>A, NR_148524.2:n.1351G>A, NR_148524.1:n.1590G>A, NR_148522.2:n.1348G>A, NR_148522.1:n.1587G>A, NM_001353703.2:c.1197G>A, NM_001353703.1:c.1197G>A, NM_001353741.2:c.1194G>A, NM_001353741.1:c.1194G>A, NM_001353726.2:c.1194G>A, NM_001353726.1:c.1194G>A, NM_001353728.2:c.1191G>A, NM_001353728.1:c.1191G>A, NM_001353739.2:c.1188G>A, NM_001353739.1:c.1188G>A, NM_001353717.2:c.1197G>A, NM_001353717.1:c.1197G>A, NM_001353707.2:c.1194G>A, NM_001353707.1:c.1194G>A, NM_001353705.2:c.1188G>A, NM_001353705.1:c.1188G>A, NM_001353751.2:c.1224G>A, NM_001353751.1:c.1224G>A, NM_001353744.2:c.1224G>A, NM_001353744.1:c.1224G>A, NM_001353698.2:c.1224G>A, NM_001353698.1:c.1224G>A, NM_001025087.2:c.1224G>A, NM_001025087.1:c.1224G>A, NM_001353745.2:c.1221G>A, NM_001353745.1:c.1221G>A, NM_001353738.2:c.1221G>A, NM_001353738.1:c.1221G>A, NM_001353724.2:c.1221G>A, NM_001353724.1:c.1221G>A, NM_001330603.2:c.1221G>A, NM_001330603.1:c.1221G>A, NM_001025088.2:c.1221G>A, NM_001025088.1:c.1221G>A, NM_001353718.2:c.1218G>A, NM_001353718.1:c.1218G>A, NM_001353702.2:c.1218G>A, NM_001353702.1:c.1218G>A, NM_001353712.2:c.1215G>A, NM_001353712.1:c.1215G>A, NR_148518.2:n.1351G>A, NR_148518.1:n.1590G>A, NM_001353752.2:c.1194G>A, NM_001353752.1:c.1194G>A, NM_001353748.2:c.1194G>A, NM_001353748.1:c.1194G>A, NM_001353709.2:c.1194G>A, NM_001353709.1:c.1194G>A, NR_148519.2:n.1348G>A, NR_148519.1:n.1587G>A, NM_001353715.2:c.1197G>A, NM_001353715.1:c.1197G>A, NM_001353755.2:c.1191G>A, NM_001353755.1:c.1191G>A, NM_001353753.2:c.1191G>A, NM_001353753.1:c.1191G>A, NM_001353750.2:c.1191G>A, NM_001353750.1:c.1191G>A, NM_001353721.2:c.1191G>A, NM_001353721.1:c.1191G>A, NM_001353710.2:c.1191G>A, NM_001353710.1:c.1191G>A, NM_001353695.2:c.1191G>A, NM_001353695.1:c.1191G>A, NM_001353725.2:c.1188G>A, NM_001353725.1:c.1188G>A, NM_001353714.2:c.1188G>A, NM_001353714.1:c.1188G>A, NM_001353711.2:c.1188G>A, NM_001353711.1:c.1188G>A, NM_001353708.2:c.1227G>A, NM_001353708.1:c.1227G>A, NM_001353743.2:c.1224G>A, NM_001353743.1:c.1224G>A, NM_001353723.2:c.1224G>A, NM_001353723.1:c.1224G>A, NM_001353696.2:c.1224G>A, NM_001353696.1:c.1224G>A, NM_001353754.2:c.1221G>A, NM_001353754.1:c.1221G>A, NM_001353747.2:c.1221G>A, NM_001353747.1:c.1221G>A, NM_001353736.2:c.1221G>A, NM_001353736.1:c.1221G>A, NM_001353730.2:c.1221G>A, NM_001353730.1:c.1221G>A, NM_001353729.2:c.1221G>A, NM_001353729.1:c.1221G>A, NM_001353737.2:c.1218G>A, NM_001353737.1:c.1218G>A, NM_001353716.2:c.1218G>A, NM_001353716.1:c.1218G>A, NM_001025089.2:c.1197G>A, NM_001025089.1:c.1197G>A, NM_001353719.2:c.1194G>A, NM_001353719.1:c.1194G>A, NM_001353713.2:c.1194G>A, NM_001353713.1:c.1194G>A, NM_001353700.2:c.1194G>A, NM_001353700.1:c.1194G>A, NM_001353697.2:c.1194G>A, NM_001353697.1:c.1194G>A, NM_001353732.2:c.1191G>A, NM_001353732.1:c.1191G>A, NM_001353727.2:c.1191G>A, NM_001353727.1:c.1191G>A, NM_001353720.2:c.1191G>A, NM_001353720.1:c.1191G>A, NM_001353706.2:c.1191G>A, NM_001353706.1:c.1191G>A, NM_001353699.2:c.1191G>A, NM_001353699.1:c.1191G>A, NM_001353722.2:c.1188G>A, NM_001353722.1:c.1188G>A, NM_001353756.2:c.855G>A, NM_001353756.1:c.855G>A, NM_001353761.2:c.852G>A, NM_001353761.1:c.852G>A, NM_001353757.2:c.828G>A, NM_001353757.1:c.828G>A, NM_001353760.2:c.825G>A, NM_001353760.1:c.825G>A, NM_001353759.2:c.825G>A, NM_001353759.1:c.825G>A, NM_001353758.2:c.825G>A, NM_001353758.1:c.825G>A, XM_047437628.1:c.1227G>A, XM_047437629.1:c.1224G>A, XM_047437632.1:c.1227G>A, XM_047437633.1:c.1224G>A, XM_047437635.1:c.1221G>A, XM_047437634.1:c.1221G>A, XM_047437630.1:c.1197G>A, XM_047437631.1:c.1194G>A, XM_047437636.1:c.1197G>A, XM_047437637.1:c.1194G>A, XM_047437669.1:c.1191G>A, XM_047437638.1:c.1191G>A, XM_047437671.1:c.1188G>A, XM_047437639.1:c.1227G>A, XM_047437642.1:c.1224G>A, XM_047437641.1:c.1224G>A, XM_047437640.1:c.1224G>A, XM_047437645.1:c.1221G>A, XM_047437644.1:c.1221G>A, XM_047437643.1:c.1221G>A, XM_047437646.1:c.1218G>A, XM_047437653.1:c.1197G>A, XM_047437670.1:c.1194G>A, XM_047437648.1:c.1194G>A, XM_047437647.1:c.1194G>A, XM_047437651.1:c.1191G>A, XM_047437650.1:c.1191G>A, XM_047437649.1:c.1191G>A, XM_047437652.1:c.1188G>A, XM_047437654.1:c.1227G>A, XM_047437657.1:c.1224G>A, XM_047437656.1:c.1224G>A, XM_047437655.1:c.1224G>A, XM_047437660.1:c.1221G>A, XM_047437659.1:c.1221G>A, XM_047437658.1:c.1221G>A, XM_047437661.1:c.1218G>A, XM_047437662.1:c.1197G>A, XM_047437665.1:c.1194G>A, XM_047437664.1:c.1194G>A, XM_047437663.1:c.1194G>A, XM_047437668.1:c.1191G>A, XM_047437667.1:c.1191G>A, XM_047437666.1:c.1191G>A, NP_064565.1:p.Met409Ile, NP_001340669.1:p.Met409Ile, NP_001340678.1:p.Met408Ile, NP_001340664.1:p.Met398Ile, NP_001340662.1:p.Met395Ile, NP_001340663.1:p.Met409Ile, NP_001340675.1:p.Met408Ile, NP_001340660.1:p.Met408Ile, NP_001340671.1:p.Met407Ile, NP_001340632.1:p.Met399Ile, NP_001340670.1:p.Met398Ile, NP_001340655.1:p.Met398Ile, NP_001340657.1:p.Met397Ile, NP_001340668.1:p.Met396Ile, NP_001340646.1:p.Met399Ile, NP_001340636.1:p.Met398Ile, NP_001340634.1:p.Met396Ile, NP_001340680.1:p.Met408Ile, NP_001340673.1:p.Met408Ile, NP_001340627.1:p.Met408Ile, NP_001020258.1:p.Met408Ile, NP_001340674.1:p.Met407Ile, NP_001340667.1:p.Met407Ile, NP_001340653.1:p.Met407Ile, NP_001317532.1:p.Met407Ile, NP_001020259.1:p.Met407Ile, NP_001340647.1:p.Met406Ile, NP_001340631.1:p.Met406Ile, NP_001340641.1:p.Met405Ile, NP_001340681.1:p.Met398Ile, NP_001340677.1:p.Met398Ile, NP_001340638.1:p.Met398Ile, NP_001340644.1:p.Met399Ile, NP_001340684.1:p.Met397Ile, NP_001340682.1:p.Met397Ile, NP_001340679.1:p.Met397Ile, NP_001340650.1:p.Met397Ile, NP_001340639.1:p.Met397Ile, NP_001340624.1:p.Met397Ile, NP_001340654.1:p.Met396Ile, NP_001340643.1:p.Met396Ile, NP_001340640.1:p.Met396Ile, NP_001340637.1:p.Met409Ile, NP_001340672.1:p.Met408Ile, NP_001340652.1:p.Met408Ile, NP_001340625.1:p.Met408Ile, NP_001340683.1:p.Met407Ile, NP_001340676.1:p.Met407Ile, NP_001340665.1:p.Met407Ile, NP_001340659.1:p.Met407Ile, NP_001340658.1:p.Met407Ile, NP_001340666.1:p.Met406Ile, NP_001340645.1:p.Met406Ile, NP_001020260.1:p.Met399Ile, NP_001340648.1:p.Met398Ile, NP_001340642.1:p.Met398Ile, NP_001340629.1:p.Met398Ile, NP_001340626.1:p.Met398Ile, NP_001340661.1:p.Met397Ile, NP_001340656.1:p.Met397Ile, NP_001340649.1:p.Met397Ile, NP_001340635.1:p.Met397Ile, NP_001340628.1:p.Met397Ile, NP_001340651.1:p.Met396Ile, NP_001340685.1:p.Met285Ile, NP_001340690.1:p.Met284Ile, NP_001340686.1:p.Met276Ile, NP_001340689.1:p.Met275Ile, NP_001340688.1:p.Met275Ile, NP_001340687.1:p.Met275Ile, XP_047293584.1:p.Met409Ile, XP_047293585.1:p.Met408Ile, XP_047293588.1:p.Met409Ile, XP_047293589.1:p.Met408Ile, XP_047293591.1:p.Met407Ile, XP_047293590.1:p.Met407Ile, XP_047293586.1:p.Met399Ile, XP_047293587.1:p.Met398Ile, XP_047293592.1:p.Met399Ile, XP_047293593.1:p.Met398Ile, XP_047293625.1:p.Met397Ile, XP_047293594.1:p.Met397Ile, XP_047293627.1:p.Met396Ile, XP_047293595.1:p.Met409Ile, XP_047293598.1:p.Met408Ile, XP_047293597.1:p.Met408Ile, XP_047293596.1:p.Met408Ile, XP_047293601.1:p.Met407Ile, XP_047293600.1:p.Met407Ile, XP_047293599.1:p.Met407Ile, XP_047293602.1:p.Met406Ile, XP_047293609.1:p.Met399Ile, XP_047293626.1:p.Met398Ile, XP_047293604.1:p.Met398Ile, XP_047293603.1:p.Met398Ile, XP_047293607.1:p.Met397Ile, XP_047293606.1:p.Met397Ile, XP_047293605.1:p.Met397Ile, XP_047293608.1:p.Met396Ile, XP_047293610.1:p.Met409Ile, XP_047293613.1:p.Met408Ile, XP_047293612.1:p.Met408Ile, XP_047293611.1:p.Met408Ile, XP_047293616.1:p.Met407Ile, XP_047293615.1:p.Met407Ile, XP_047293614.1:p.Met407Ile, XP_047293617.1:p.Met406Ile, XP_047293618.1:p.Met399Ile, XP_047293621.1:p.Met398Ile, XP_047293620.1:p.Met398Ile, XP_047293619.1:p.Met398Ile, XP_047293624.1:p.Met397Ile, XP_047293623.1:p.Met397Ile, XP_047293622.1:p.Met397Ile

                        12.

                        rs1468223303 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          18:37273061 (GRCh38)
                          18:34853024 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:37273060:G:A
                          Gene:
                          CELF4 (Varview), LOC105372068 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000018.10:g.37273061G>A, NC_000018.9:g.34853024G>A, NM_020180.4:c.904C>T, NM_020180.3:c.904C>T, NM_001353740.2:c.904C>T, NM_001353740.1:c.904C>T, NM_001353749.2:c.901C>T, NM_001353749.1:c.901C>T, NM_001353735.2:c.871C>T, NM_001353735.1:c.871C>T, NM_001353733.2:c.868C>T, NM_001353733.1:c.868C>T, NR_148527.2:n.1061C>T, NR_148527.1:n.1300C>T, NR_148528.2:n.1058C>T, NR_148528.1:n.1297C>T, NR_148526.2:n.1058C>T, NR_148526.1:n.1297C>T, NR_148521.2:n.1061C>T, NR_148521.1:n.1300C>T, NR_148520.2:n.1058C>T, NR_148520.1:n.1297C>T, NM_001353734.2:c.904C>T, NM_001353734.1:c.904C>T, NM_001353746.2:c.901C>T, NM_001353746.1:c.901C>T, NM_001353731.2:c.904C>T, NM_001353731.1:c.904C>T, NR_148523.2:n.1031C>T, NR_148523.1:n.1270C>T, NM_001353742.2:c.901C>T, NM_001353742.1:c.901C>T, NR_148525.2:n.1028C>T, NR_148525.1:n.1267C>T, NR_148524.2:n.1028C>T, NR_148524.1:n.1267C>T, NR_148522.2:n.1025C>T, NR_148522.1:n.1264C>T, NM_001353703.2:c.874C>T, NM_001353703.1:c.874C>T, NM_001353741.2:c.871C>T, NM_001353741.1:c.871C>T, NM_001353726.2:c.871C>T, NM_001353726.1:c.871C>T, NM_001353728.2:c.871C>T, NM_001353728.1:c.871C>T, NM_001353739.2:c.868C>T, NM_001353739.1:c.868C>T, NM_001353717.2:c.874C>T, NM_001353717.1:c.874C>T, NM_001353707.2:c.871C>T, NM_001353707.1:c.871C>T, NM_001353705.2:c.868C>T, NM_001353705.1:c.868C>T, NM_001353751.2:c.904C>T, NM_001353751.1:c.904C>T, NM_001353744.2:c.904C>T, NM_001353744.1:c.904C>T, NM_001353698.2:c.901C>T, NM_001353698.1:c.901C>T, NM_001025087.2:c.901C>T, NM_001025087.1:c.901C>T, NM_001353745.2:c.901C>T, NM_001353745.1:c.901C>T, NM_001353738.2:c.901C>T, NM_001353738.1:c.901C>T, NM_001353724.2:c.904C>T, NM_001353724.1:c.904C>T, NM_001330603.2:c.901C>T, NM_001330603.1:c.901C>T, NM_001025088.2:c.898C>T, NM_001025088.1:c.898C>T, NM_001353718.2:c.901C>T, NM_001353718.1:c.901C>T, NM_001353702.2:c.898C>T, NM_001353702.1:c.898C>T, NM_001353712.2:c.898C>T, NM_001353712.1:c.898C>T, NR_148518.2:n.1028C>T, NR_148518.1:n.1267C>T, NM_001353752.2:c.871C>T, NM_001353752.1:c.871C>T, NM_001353748.2:c.874C>T, NM_001353748.1:c.874C>T, NM_001353709.2:c.871C>T, NM_001353709.1:c.871C>T, NR_148519.2:n.1025C>T, NR_148519.1:n.1264C>T, NM_001353715.2:c.874C>T, NM_001353715.1:c.874C>T, NM_001353755.2:c.868C>T, NM_001353755.1:c.868C>T, NM_001353753.2:c.871C>T, NM_001353753.1:c.871C>T, NM_001353750.2:c.871C>T, NM_001353750.1:c.871C>T, NM_001353721.2:c.871C>T, NM_001353721.1:c.871C>T, NM_001353710.2:c.874C>T, NM_001353710.1:c.874C>T, NM_001353695.2:c.871C>T, NM_001353695.1:c.871C>T, NM_001353725.2:c.868C>T, NM_001353725.1:c.868C>T, NM_001353714.2:c.871C>T, NM_001353714.1:c.871C>T, NM_001353711.2:c.868C>T, NM_001353711.1:c.868C>T, NM_001353708.2:c.904C>T, NM_001353708.1:c.904C>T, NM_001353743.2:c.904C>T, NM_001353743.1:c.904C>T, NM_001353723.2:c.901C>T, NM_001353723.1:c.901C>T, NM_001353696.2:c.901C>T, NM_001353696.1:c.901C>T, NM_001353754.2:c.898C>T, NM_001353754.1:c.898C>T, NM_001353747.2:c.901C>T, NM_001353747.1:c.901C>T, NM_001353736.2:c.904C>T, NM_001353736.1:c.904C>T, NM_001353730.2:c.901C>T, NM_001353730.1:c.901C>T, NM_001353729.2:c.901C>T, NM_001353729.1:c.901C>T, NM_001353737.2:c.901C>T, NM_001353737.1:c.901C>T, NM_001353716.2:c.898C>T, NM_001353716.1:c.898C>T, NM_001025089.2:c.874C>T, NM_001025089.1:c.874C>T, NM_001353719.2:c.874C>T, NM_001353719.1:c.874C>T, NM_001353713.2:c.871C>T, NM_001353713.1:c.871C>T, NM_001353700.2:c.874C>T, NM_001353700.1:c.874C>T, NM_001353697.2:c.871C>T, NM_001353697.1:c.871C>T, NM_001353732.2:c.871C>T, NM_001353732.1:c.871C>T, NM_001353727.2:c.871C>T, NM_001353727.1:c.871C>T, NM_001353720.2:c.874C>T, NM_001353720.1:c.874C>T, NM_001353706.2:c.868C>T, NM_001353706.1:c.868C>T, NM_001353699.2:c.871C>T, NM_001353699.1:c.871C>T, NM_001353722.2:c.868C>T, NM_001353722.1:c.868C>T, NM_001353756.2:c.532C>T, NM_001353756.1:c.532C>T, NM_001353761.2:c.532C>T, NM_001353761.1:c.532C>T, NM_001353757.2:c.505C>T, NM_001353757.1:c.505C>T, NM_001353760.2:c.505C>T, NM_001353760.1:c.505C>T, NM_001353759.2:c.502C>T, NM_001353759.1:c.502C>T, NM_001353758.2:c.502C>T, NM_001353758.1:c.502C>T, XM_047437628.1:c.904C>T, XM_047437629.1:c.901C>T, XM_047437632.1:c.904C>T, XM_047437633.1:c.904C>T, XM_047437635.1:c.904C>T, XM_047437634.1:c.901C>T, XM_047437630.1:c.874C>T, XM_047437631.1:c.874C>T, XM_047437636.1:c.874C>T, XM_047437637.1:c.871C>T, XM_047437669.1:c.871C>T, XM_047437638.1:c.874C>T, XM_047437671.1:c.871C>T, XM_047437639.1:c.904C>T, XM_047437642.1:c.904C>T, XM_047437641.1:c.904C>T, XM_047437640.1:c.901C>T, XM_047437645.1:c.904C>T, XM_047437644.1:c.901C>T, XM_047437643.1:c.901C>T, XM_047437646.1:c.901C>T, XM_047437653.1:c.874C>T, XM_047437670.1:c.874C>T, XM_047437648.1:c.874C>T, XM_047437647.1:c.871C>T, XM_047437651.1:c.874C>T, XM_047437650.1:c.871C>T, XM_047437649.1:c.871C>T, XM_047437652.1:c.871C>T, XM_047437654.1:c.904C>T, XM_047437657.1:c.904C>T, XM_047437656.1:c.904C>T, XM_047437655.1:c.901C>T, XM_047437660.1:c.904C>T, XM_047437659.1:c.901C>T, XM_047437658.1:c.901C>T, XM_047437661.1:c.901C>T, XM_047437662.1:c.874C>T, XM_047437665.1:c.874C>T, XM_047437664.1:c.874C>T, XM_047437663.1:c.871C>T, XM_047437668.1:c.874C>T, XM_047437667.1:c.871C>T, XM_047437666.1:c.871C>T, NP_064565.1:p.Leu302Phe, NP_001340669.1:p.Leu302Phe, NP_001340678.1:p.Leu301Phe, NP_001340664.1:p.Leu291Phe, NP_001340662.1:p.Leu290Phe, NP_001340663.1:p.Leu302Phe, NP_001340675.1:p.Leu301Phe, NP_001340660.1:p.Leu302Phe, NP_001340671.1:p.Leu301Phe, NP_001340632.1:p.Leu292Phe, NP_001340670.1:p.Leu291Phe, NP_001340655.1:p.Leu291Phe, NP_001340657.1:p.Leu291Phe, NP_001340668.1:p.Leu290Phe, NP_001340646.1:p.Leu292Phe, NP_001340636.1:p.Leu291Phe, NP_001340634.1:p.Leu290Phe, NP_001340680.1:p.Leu302Phe, NP_001340673.1:p.Leu302Phe, NP_001340627.1:p.Leu301Phe, NP_001020258.1:p.Leu301Phe, NP_001340674.1:p.Leu301Phe, NP_001340667.1:p.Leu301Phe, NP_001340653.1:p.Leu302Phe, NP_001317532.1:p.Leu301Phe, NP_001020259.1:p.Leu300Phe, NP_001340647.1:p.Leu301Phe, NP_001340631.1:p.Leu300Phe, NP_001340641.1:p.Leu300Phe, NP_001340681.1:p.Leu291Phe, NP_001340677.1:p.Leu292Phe, NP_001340638.1:p.Leu291Phe, NP_001340644.1:p.Leu292Phe, NP_001340684.1:p.Leu290Phe, NP_001340682.1:p.Leu291Phe, NP_001340679.1:p.Leu291Phe, NP_001340650.1:p.Leu291Phe, NP_001340639.1:p.Leu292Phe, NP_001340624.1:p.Leu291Phe, NP_001340654.1:p.Leu290Phe, NP_001340643.1:p.Leu291Phe, NP_001340640.1:p.Leu290Phe, NP_001340637.1:p.Leu302Phe, NP_001340672.1:p.Leu302Phe, NP_001340652.1:p.Leu301Phe, NP_001340625.1:p.Leu301Phe, NP_001340683.1:p.Leu300Phe, NP_001340676.1:p.Leu301Phe, NP_001340665.1:p.Leu302Phe, NP_001340659.1:p.Leu301Phe, NP_001340658.1:p.Leu301Phe, NP_001340666.1:p.Leu301Phe, NP_001340645.1:p.Leu300Phe, NP_001020260.1:p.Leu292Phe, NP_001340648.1:p.Leu292Phe, NP_001340642.1:p.Leu291Phe, NP_001340629.1:p.Leu292Phe, NP_001340626.1:p.Leu291Phe, NP_001340661.1:p.Leu291Phe, NP_001340656.1:p.Leu291Phe, NP_001340649.1:p.Leu292Phe, NP_001340635.1:p.Leu290Phe, NP_001340628.1:p.Leu291Phe, NP_001340651.1:p.Leu290Phe, NP_001340685.1:p.Leu178Phe, NP_001340690.1:p.Leu178Phe, NP_001340686.1:p.Leu169Phe, NP_001340689.1:p.Leu169Phe, NP_001340688.1:p.Leu168Phe, NP_001340687.1:p.Leu168Phe, XP_047293584.1:p.Leu302Phe, XP_047293585.1:p.Leu301Phe, XP_047293588.1:p.Leu302Phe, XP_047293589.1:p.Leu302Phe, XP_047293591.1:p.Leu302Phe, XP_047293590.1:p.Leu301Phe, XP_047293586.1:p.Leu292Phe, XP_047293587.1:p.Leu292Phe, XP_047293592.1:p.Leu292Phe, XP_047293593.1:p.Leu291Phe, XP_047293625.1:p.Leu291Phe, XP_047293594.1:p.Leu292Phe, XP_047293627.1:p.Leu291Phe, XP_047293595.1:p.Leu302Phe, XP_047293598.1:p.Leu302Phe, XP_047293597.1:p.Leu302Phe, XP_047293596.1:p.Leu301Phe, XP_047293601.1:p.Leu302Phe, XP_047293600.1:p.Leu301Phe, XP_047293599.1:p.Leu301Phe, XP_047293602.1:p.Leu301Phe, XP_047293609.1:p.Leu292Phe, XP_047293626.1:p.Leu292Phe, XP_047293604.1:p.Leu292Phe, XP_047293603.1:p.Leu291Phe, XP_047293607.1:p.Leu292Phe, XP_047293606.1:p.Leu291Phe, XP_047293605.1:p.Leu291Phe, XP_047293608.1:p.Leu291Phe, XP_047293610.1:p.Leu302Phe, XP_047293613.1:p.Leu302Phe, XP_047293612.1:p.Leu302Phe, XP_047293611.1:p.Leu301Phe, XP_047293616.1:p.Leu302Phe, XP_047293615.1:p.Leu301Phe, XP_047293614.1:p.Leu301Phe, XP_047293617.1:p.Leu301Phe, XP_047293618.1:p.Leu292Phe, XP_047293621.1:p.Leu292Phe, XP_047293620.1:p.Leu292Phe, XP_047293619.1:p.Leu291Phe, XP_047293624.1:p.Leu292Phe, XP_047293623.1:p.Leu291Phe, XP_047293622.1:p.Leu291Phe

                          13.

                          rs1467570419 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            18:37565537 (GRCh38)
                            18:35145500 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:37565536:T:C
                            Gene:
                            CELF4 (Varview), LOC124904288 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000018.10:g.37565537T>C, NC_000018.9:g.35145500T>C, NM_020180.4:c.105A>G, NM_020180.3:c.105A>G, NM_001353740.2:c.105A>G, NM_001353740.1:c.105A>G, NM_001353749.2:c.105A>G, NM_001353749.1:c.105A>G, NM_001353735.2:c.105A>G, NM_001353735.1:c.105A>G, NM_001353733.2:c.105A>G, NM_001353733.1:c.105A>G, NR_148527.2:n.262A>G, NR_148527.1:n.501A>G, NR_148528.2:n.262A>G, NR_148528.1:n.501A>G, NR_148526.2:n.262A>G, NR_148526.1:n.501A>G, NR_148521.2:n.262A>G, NR_148521.1:n.501A>G, NR_148520.2:n.262A>G, NR_148520.1:n.501A>G, NM_001353734.2:c.105A>G, NM_001353734.1:c.105A>G, NM_001353746.2:c.105A>G, NM_001353746.1:c.105A>G, NM_001353731.2:c.105A>G, NM_001353731.1:c.105A>G, NR_148523.2:n.262A>G, NR_148523.1:n.501A>G, NM_001353742.2:c.105A>G, NM_001353742.1:c.105A>G, NR_148525.2:n.262A>G, NR_148525.1:n.501A>G, NR_148524.2:n.262A>G, NR_148524.1:n.501A>G, NR_148522.2:n.262A>G, NR_148522.1:n.501A>G, NM_001353703.2:c.105A>G, NM_001353703.1:c.105A>G, NM_001353741.2:c.105A>G, NM_001353741.1:c.105A>G, NM_001353726.2:c.105A>G, NM_001353726.1:c.105A>G, NM_001353728.2:c.105A>G, NM_001353728.1:c.105A>G, NM_001353739.2:c.105A>G, NM_001353739.1:c.105A>G, NM_001353717.2:c.105A>G, NM_001353717.1:c.105A>G, NM_001353707.2:c.105A>G, NM_001353707.1:c.105A>G, NM_001353705.2:c.105A>G, NM_001353705.1:c.105A>G, NM_001353751.2:c.105A>G, NM_001353751.1:c.105A>G, NM_001353744.2:c.105A>G, NM_001353744.1:c.105A>G, NM_001353698.2:c.105A>G, NM_001353698.1:c.105A>G, NM_001025087.2:c.105A>G, NM_001025087.1:c.105A>G, NM_001353745.2:c.105A>G, NM_001353745.1:c.105A>G, NM_001353738.2:c.105A>G, NM_001353738.1:c.105A>G, NM_001353724.2:c.105A>G, NM_001353724.1:c.105A>G, NM_001330603.2:c.105A>G, NM_001330603.1:c.105A>G, NM_001025088.2:c.105A>G, NM_001025088.1:c.105A>G, NM_001353718.2:c.105A>G, NM_001353718.1:c.105A>G, NM_001353702.2:c.105A>G, NM_001353702.1:c.105A>G, NM_001353712.2:c.105A>G, NM_001353712.1:c.105A>G, NR_148518.2:n.262A>G, NR_148518.1:n.501A>G, NM_001353752.2:c.105A>G, NM_001353752.1:c.105A>G, NM_001353748.2:c.105A>G, NM_001353748.1:c.105A>G, NM_001353709.2:c.105A>G, NM_001353709.1:c.105A>G, NR_148519.2:n.262A>G, NR_148519.1:n.501A>G, NM_001353715.2:c.105A>G, NM_001353715.1:c.105A>G, NM_001353755.2:c.105A>G, NM_001353755.1:c.105A>G, NM_001353753.2:c.105A>G, NM_001353753.1:c.105A>G, NM_001353750.2:c.105A>G, NM_001353750.1:c.105A>G, NM_001353721.2:c.105A>G, NM_001353721.1:c.105A>G, NM_001353710.2:c.105A>G, NM_001353710.1:c.105A>G, NM_001353695.2:c.105A>G, NM_001353695.1:c.105A>G, NM_001353725.2:c.105A>G, NM_001353725.1:c.105A>G, NM_001353714.2:c.105A>G, NM_001353714.1:c.105A>G, NM_001353711.2:c.105A>G, NM_001353711.1:c.105A>G, NM_001353708.2:c.105A>G, NM_001353708.1:c.105A>G, NM_001353743.2:c.105A>G, NM_001353743.1:c.105A>G, NM_001353723.2:c.105A>G, NM_001353723.1:c.105A>G, NM_001353696.2:c.105A>G, NM_001353696.1:c.105A>G, NM_001353754.2:c.105A>G, NM_001353754.1:c.105A>G, NM_001353747.2:c.105A>G, NM_001353747.1:c.105A>G, NM_001353736.2:c.105A>G, NM_001353736.1:c.105A>G, NM_001353730.2:c.105A>G, NM_001353730.1:c.105A>G, NM_001353729.2:c.105A>G, NM_001353729.1:c.105A>G, NM_001353737.2:c.105A>G, NM_001353737.1:c.105A>G, NM_001353716.2:c.105A>G, NM_001353716.1:c.105A>G, NM_001025089.2:c.105A>G, NM_001025089.1:c.105A>G, NM_001353719.2:c.105A>G, NM_001353719.1:c.105A>G, NM_001353713.2:c.105A>G, NM_001353713.1:c.105A>G, NM_001353700.2:c.105A>G, NM_001353700.1:c.105A>G, NM_001353697.2:c.105A>G, NM_001353697.1:c.105A>G, NM_001353732.2:c.105A>G, NM_001353732.1:c.105A>G, NM_001353727.2:c.105A>G, NM_001353727.1:c.105A>G, NM_001353720.2:c.105A>G, NM_001353720.1:c.105A>G, NM_001353706.2:c.105A>G, NM_001353706.1:c.105A>G, NM_001353699.2:c.105A>G, NM_001353699.1:c.105A>G, NM_001353722.2:c.105A>G, NM_001353722.1:c.105A>G, NM_001353701.2:c.105A>G, NM_001353701.1:c.105A>G, XM_047437628.1:c.105A>G, XM_047437629.1:c.105A>G, XM_047437632.1:c.105A>G, XM_047437633.1:c.105A>G, XM_047437635.1:c.105A>G, XM_047437634.1:c.105A>G, XM_047437630.1:c.105A>G, XM_047437631.1:c.105A>G, XM_047437636.1:c.105A>G, XM_047437637.1:c.105A>G, XM_047437669.1:c.105A>G, XM_047437638.1:c.105A>G, XM_047437671.1:c.105A>G, XM_047437639.1:c.105A>G, XM_047437642.1:c.105A>G, XM_047437641.1:c.105A>G, XM_047437640.1:c.105A>G, XM_047437645.1:c.105A>G, XM_047437644.1:c.105A>G, XM_047437643.1:c.105A>G, XM_047437646.1:c.105A>G, XM_047437653.1:c.105A>G, XM_047437670.1:c.105A>G, XM_047437648.1:c.105A>G, XM_047437647.1:c.105A>G, XM_047437651.1:c.105A>G, XM_047437650.1:c.105A>G, XM_047437649.1:c.105A>G, XM_047437652.1:c.105A>G, XM_047437654.1:c.105A>G, XM_047437657.1:c.105A>G, XM_047437656.1:c.105A>G, XM_047437655.1:c.105A>G, XM_047437660.1:c.105A>G, XM_047437659.1:c.105A>G, XM_047437658.1:c.105A>G, XM_047437661.1:c.105A>G, XM_047437662.1:c.105A>G, XM_047437665.1:c.105A>G, XM_047437664.1:c.105A>G, XM_047437663.1:c.105A>G, XM_047437668.1:c.105A>G, XM_047437667.1:c.105A>G, XM_047437666.1:c.105A>G

                            14.

                            rs1467552800 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              18:37273024 (GRCh38)
                              18:34852987 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:37273023:G:T
                              Gene:
                              CELF4 (Varview), LOC105372068 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000018.10:g.37273024G>T, NC_000018.9:g.34852987G>T, NM_020180.4:c.941C>A, NM_020180.3:c.941C>A, NM_001353740.2:c.941C>A, NM_001353740.1:c.941C>A, NM_001353749.2:c.938C>A, NM_001353749.1:c.938C>A, NM_001353735.2:c.908C>A, NM_001353735.1:c.908C>A, NM_001353733.2:c.905C>A, NM_001353733.1:c.905C>A, NR_148527.2:n.1098C>A, NR_148527.1:n.1337C>A, NR_148528.2:n.1095C>A, NR_148528.1:n.1334C>A, NR_148526.2:n.1095C>A, NR_148526.1:n.1334C>A, NR_148521.2:n.1098C>A, NR_148521.1:n.1337C>A, NR_148520.2:n.1095C>A, NR_148520.1:n.1334C>A, NM_001353734.2:c.941C>A, NM_001353734.1:c.941C>A, NM_001353746.2:c.938C>A, NM_001353746.1:c.938C>A, NM_001353731.2:c.941C>A, NM_001353731.1:c.941C>A, NR_148523.2:n.1068C>A, NR_148523.1:n.1307C>A, NM_001353742.2:c.938C>A, NM_001353742.1:c.938C>A, NR_148525.2:n.1065C>A, NR_148525.1:n.1304C>A, NR_148524.2:n.1065C>A, NR_148524.1:n.1304C>A, NR_148522.2:n.1062C>A, NR_148522.1:n.1301C>A, NM_001353703.2:c.911C>A, NM_001353703.1:c.911C>A, NM_001353741.2:c.908C>A, NM_001353741.1:c.908C>A, NM_001353726.2:c.908C>A, NM_001353726.1:c.908C>A, NM_001353728.2:c.908C>A, NM_001353728.1:c.908C>A, NM_001353739.2:c.905C>A, NM_001353739.1:c.905C>A, NM_001353717.2:c.911C>A, NM_001353717.1:c.911C>A, NM_001353707.2:c.908C>A, NM_001353707.1:c.908C>A, NM_001353705.2:c.905C>A, NM_001353705.1:c.905C>A, NM_001353751.2:c.941C>A, NM_001353751.1:c.941C>A, NM_001353744.2:c.941C>A, NM_001353744.1:c.941C>A, NM_001353698.2:c.938C>A, NM_001353698.1:c.938C>A, NM_001025087.2:c.938C>A, NM_001025087.1:c.938C>A, NM_001353745.2:c.938C>A, NM_001353745.1:c.938C>A, NM_001353738.2:c.938C>A, NM_001353738.1:c.938C>A, NM_001353724.2:c.941C>A, NM_001353724.1:c.941C>A, NM_001330603.2:c.938C>A, NM_001330603.1:c.938C>A, NM_001025088.2:c.935C>A, NM_001025088.1:c.935C>A, NM_001353718.2:c.938C>A, NM_001353718.1:c.938C>A, NM_001353702.2:c.935C>A, NM_001353702.1:c.935C>A, NM_001353712.2:c.935C>A, NM_001353712.1:c.935C>A, NR_148518.2:n.1065C>A, NR_148518.1:n.1304C>A, NM_001353752.2:c.908C>A, NM_001353752.1:c.908C>A, NM_001353748.2:c.911C>A, NM_001353748.1:c.911C>A, NM_001353709.2:c.908C>A, NM_001353709.1:c.908C>A, NR_148519.2:n.1062C>A, NR_148519.1:n.1301C>A, NM_001353715.2:c.911C>A, NM_001353715.1:c.911C>A, NM_001353755.2:c.905C>A, NM_001353755.1:c.905C>A, NM_001353753.2:c.908C>A, NM_001353753.1:c.908C>A, NM_001353750.2:c.908C>A, NM_001353750.1:c.908C>A, NM_001353721.2:c.908C>A, NM_001353721.1:c.908C>A, NM_001353710.2:c.911C>A, NM_001353710.1:c.911C>A, NM_001353695.2:c.908C>A, NM_001353695.1:c.908C>A, NM_001353725.2:c.905C>A, NM_001353725.1:c.905C>A, NM_001353714.2:c.908C>A, NM_001353714.1:c.908C>A, NM_001353711.2:c.905C>A, NM_001353711.1:c.905C>A, NM_001353708.2:c.941C>A, NM_001353708.1:c.941C>A, NM_001353743.2:c.941C>A, NM_001353743.1:c.941C>A, NM_001353723.2:c.938C>A, NM_001353723.1:c.938C>A, NM_001353696.2:c.938C>A, NM_001353696.1:c.938C>A, NM_001353754.2:c.935C>A, NM_001353754.1:c.935C>A, NM_001353747.2:c.938C>A, NM_001353747.1:c.938C>A, NM_001353736.2:c.941C>A, NM_001353736.1:c.941C>A, NM_001353730.2:c.938C>A, NM_001353730.1:c.938C>A, NM_001353729.2:c.938C>A, NM_001353729.1:c.938C>A, NM_001353737.2:c.938C>A, NM_001353737.1:c.938C>A, NM_001353716.2:c.935C>A, NM_001353716.1:c.935C>A, NM_001025089.2:c.911C>A, NM_001025089.1:c.911C>A, NM_001353719.2:c.911C>A, NM_001353719.1:c.911C>A, NM_001353713.2:c.908C>A, NM_001353713.1:c.908C>A, NM_001353700.2:c.911C>A, NM_001353700.1:c.911C>A, NM_001353697.2:c.908C>A, NM_001353697.1:c.908C>A, NM_001353732.2:c.908C>A, NM_001353732.1:c.908C>A, NM_001353727.2:c.908C>A, NM_001353727.1:c.908C>A, NM_001353720.2:c.911C>A, NM_001353720.1:c.911C>A, NM_001353706.2:c.905C>A, NM_001353706.1:c.905C>A, NM_001353699.2:c.908C>A, NM_001353699.1:c.908C>A, NM_001353722.2:c.905C>A, NM_001353722.1:c.905C>A, NM_001353756.2:c.569C>A, NM_001353756.1:c.569C>A, NM_001353761.2:c.569C>A, NM_001353761.1:c.569C>A, NM_001353757.2:c.542C>A, NM_001353757.1:c.542C>A, NM_001353760.2:c.542C>A, NM_001353760.1:c.542C>A, NM_001353759.2:c.539C>A, NM_001353759.1:c.539C>A, NM_001353758.2:c.539C>A, NM_001353758.1:c.539C>A, XM_047437628.1:c.941C>A, XM_047437629.1:c.938C>A, XM_047437632.1:c.941C>A, XM_047437633.1:c.941C>A, XM_047437635.1:c.941C>A, XM_047437634.1:c.938C>A, XM_047437630.1:c.911C>A, XM_047437631.1:c.911C>A, XM_047437636.1:c.911C>A, XM_047437637.1:c.908C>A, XM_047437669.1:c.908C>A, XM_047437638.1:c.911C>A, XM_047437671.1:c.908C>A, XM_047437639.1:c.941C>A, XM_047437642.1:c.941C>A, XM_047437641.1:c.941C>A, XM_047437640.1:c.938C>A, XM_047437645.1:c.941C>A, XM_047437644.1:c.938C>A, XM_047437643.1:c.938C>A, XM_047437646.1:c.938C>A, XM_047437653.1:c.911C>A, XM_047437670.1:c.911C>A, XM_047437648.1:c.911C>A, XM_047437647.1:c.908C>A, XM_047437651.1:c.911C>A, XM_047437650.1:c.908C>A, XM_047437649.1:c.908C>A, XM_047437652.1:c.908C>A, XM_047437654.1:c.941C>A, XM_047437657.1:c.941C>A, XM_047437656.1:c.941C>A, XM_047437655.1:c.938C>A, XM_047437660.1:c.941C>A, XM_047437659.1:c.938C>A, XM_047437658.1:c.938C>A, XM_047437661.1:c.938C>A, XM_047437662.1:c.911C>A, XM_047437665.1:c.911C>A, XM_047437664.1:c.911C>A, XM_047437663.1:c.908C>A, XM_047437668.1:c.911C>A, XM_047437667.1:c.908C>A, XM_047437666.1:c.908C>A, NP_064565.1:p.Pro314Gln, NP_001340669.1:p.Pro314Gln, NP_001340678.1:p.Pro313Gln, NP_001340664.1:p.Pro303Gln, NP_001340662.1:p.Pro302Gln, NP_001340663.1:p.Pro314Gln, NP_001340675.1:p.Pro313Gln, NP_001340660.1:p.Pro314Gln, NP_001340671.1:p.Pro313Gln, NP_001340632.1:p.Pro304Gln, NP_001340670.1:p.Pro303Gln, NP_001340655.1:p.Pro303Gln, NP_001340657.1:p.Pro303Gln, NP_001340668.1:p.Pro302Gln, NP_001340646.1:p.Pro304Gln, NP_001340636.1:p.Pro303Gln, NP_001340634.1:p.Pro302Gln, NP_001340680.1:p.Pro314Gln, NP_001340673.1:p.Pro314Gln, NP_001340627.1:p.Pro313Gln, NP_001020258.1:p.Pro313Gln, NP_001340674.1:p.Pro313Gln, NP_001340667.1:p.Pro313Gln, NP_001340653.1:p.Pro314Gln, NP_001317532.1:p.Pro313Gln, NP_001020259.1:p.Pro312Gln, NP_001340647.1:p.Pro313Gln, NP_001340631.1:p.Pro312Gln, NP_001340641.1:p.Pro312Gln, NP_001340681.1:p.Pro303Gln, NP_001340677.1:p.Pro304Gln, NP_001340638.1:p.Pro303Gln, NP_001340644.1:p.Pro304Gln, NP_001340684.1:p.Pro302Gln, NP_001340682.1:p.Pro303Gln, NP_001340679.1:p.Pro303Gln, NP_001340650.1:p.Pro303Gln, NP_001340639.1:p.Pro304Gln, NP_001340624.1:p.Pro303Gln, NP_001340654.1:p.Pro302Gln, NP_001340643.1:p.Pro303Gln, NP_001340640.1:p.Pro302Gln, NP_001340637.1:p.Pro314Gln, NP_001340672.1:p.Pro314Gln, NP_001340652.1:p.Pro313Gln, NP_001340625.1:p.Pro313Gln, NP_001340683.1:p.Pro312Gln, NP_001340676.1:p.Pro313Gln, NP_001340665.1:p.Pro314Gln, NP_001340659.1:p.Pro313Gln, NP_001340658.1:p.Pro313Gln, NP_001340666.1:p.Pro313Gln, NP_001340645.1:p.Pro312Gln, NP_001020260.1:p.Pro304Gln, NP_001340648.1:p.Pro304Gln, NP_001340642.1:p.Pro303Gln, NP_001340629.1:p.Pro304Gln, NP_001340626.1:p.Pro303Gln, NP_001340661.1:p.Pro303Gln, NP_001340656.1:p.Pro303Gln, NP_001340649.1:p.Pro304Gln, NP_001340635.1:p.Pro302Gln, NP_001340628.1:p.Pro303Gln, NP_001340651.1:p.Pro302Gln, NP_001340685.1:p.Pro190Gln, NP_001340690.1:p.Pro190Gln, NP_001340686.1:p.Pro181Gln, NP_001340689.1:p.Pro181Gln, NP_001340688.1:p.Pro180Gln, NP_001340687.1:p.Pro180Gln, XP_047293584.1:p.Pro314Gln, XP_047293585.1:p.Pro313Gln, XP_047293588.1:p.Pro314Gln, XP_047293589.1:p.Pro314Gln, XP_047293591.1:p.Pro314Gln, XP_047293590.1:p.Pro313Gln, XP_047293586.1:p.Pro304Gln, XP_047293587.1:p.Pro304Gln, XP_047293592.1:p.Pro304Gln, XP_047293593.1:p.Pro303Gln, XP_047293625.1:p.Pro303Gln, XP_047293594.1:p.Pro304Gln, XP_047293627.1:p.Pro303Gln, XP_047293595.1:p.Pro314Gln, XP_047293598.1:p.Pro314Gln, XP_047293597.1:p.Pro314Gln, XP_047293596.1:p.Pro313Gln, XP_047293601.1:p.Pro314Gln, XP_047293600.1:p.Pro313Gln, XP_047293599.1:p.Pro313Gln, XP_047293602.1:p.Pro313Gln, XP_047293609.1:p.Pro304Gln, XP_047293626.1:p.Pro304Gln, XP_047293604.1:p.Pro304Gln, XP_047293603.1:p.Pro303Gln, XP_047293607.1:p.Pro304Gln, XP_047293606.1:p.Pro303Gln, XP_047293605.1:p.Pro303Gln, XP_047293608.1:p.Pro303Gln, XP_047293610.1:p.Pro314Gln, XP_047293613.1:p.Pro314Gln, XP_047293612.1:p.Pro314Gln, XP_047293611.1:p.Pro313Gln, XP_047293616.1:p.Pro314Gln, XP_047293615.1:p.Pro313Gln, XP_047293614.1:p.Pro313Gln, XP_047293617.1:p.Pro313Gln, XP_047293618.1:p.Pro304Gln, XP_047293621.1:p.Pro304Gln, XP_047293620.1:p.Pro304Gln, XP_047293619.1:p.Pro303Gln, XP_047293624.1:p.Pro304Gln, XP_047293623.1:p.Pro303Gln, XP_047293622.1:p.Pro303Gln

                              15.

                              rs1465463967 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                18:37270849 (GRCh38)
                                18:34850812 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:37270848:C:T
                                Gene:
                                CELF4 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000018.10:g.37270849C>T, NC_000018.9:g.34850812C>T, NM_020180.4:c.1018G>A, NM_020180.3:c.1018G>A, NM_001353740.2:c.1018G>A, NM_001353740.1:c.1018G>A, NM_001353749.2:c.1015G>A, NM_001353749.1:c.1015G>A, NM_001353735.2:c.985G>A, NM_001353735.1:c.985G>A, NM_001353733.2:c.982G>A, NM_001353733.1:c.982G>A, NR_148527.2:n.1175G>A, NR_148527.1:n.1414G>A, NR_148528.2:n.1172G>A, NR_148528.1:n.1411G>A, NR_148526.2:n.1172G>A, NR_148526.1:n.1411G>A, NR_148521.2:n.1175G>A, NR_148521.1:n.1414G>A, NR_148520.2:n.1172G>A, NR_148520.1:n.1411G>A, NM_001353734.2:c.1018G>A, NM_001353734.1:c.1018G>A, NM_001353746.2:c.1015G>A, NM_001353746.1:c.1015G>A, NM_001353731.2:c.1018G>A, NM_001353731.1:c.1018G>A, NR_148523.2:n.1145G>A, NR_148523.1:n.1384G>A, NM_001353742.2:c.1015G>A, NM_001353742.1:c.1015G>A, NR_148525.2:n.1142G>A, NR_148525.1:n.1381G>A, NR_148524.2:n.1142G>A, NR_148524.1:n.1381G>A, NR_148522.2:n.1139G>A, NR_148522.1:n.1378G>A, NM_001353703.2:c.988G>A, NM_001353703.1:c.988G>A, NM_001353741.2:c.985G>A, NM_001353741.1:c.985G>A, NM_001353726.2:c.985G>A, NM_001353726.1:c.985G>A, NM_001353728.2:c.985G>A, NM_001353728.1:c.985G>A, NM_001353739.2:c.982G>A, NM_001353739.1:c.982G>A, NM_001353717.2:c.988G>A, NM_001353717.1:c.988G>A, NM_001353707.2:c.985G>A, NM_001353707.1:c.985G>A, NM_001353705.2:c.982G>A, NM_001353705.1:c.982G>A, NM_001353751.2:c.1018G>A, NM_001353751.1:c.1018G>A, NM_001353744.2:c.1018G>A, NM_001353744.1:c.1018G>A, NM_001353698.2:c.1015G>A, NM_001353698.1:c.1015G>A, NM_001025087.2:c.1015G>A, NM_001025087.1:c.1015G>A, NM_001353745.2:c.1015G>A, NM_001353745.1:c.1015G>A, NM_001353738.2:c.1015G>A, NM_001353738.1:c.1015G>A, NM_001353724.2:c.1018G>A, NM_001353724.1:c.1018G>A, NM_001330603.2:c.1015G>A, NM_001330603.1:c.1015G>A, NM_001025088.2:c.1012G>A, NM_001025088.1:c.1012G>A, NM_001353718.2:c.1015G>A, NM_001353718.1:c.1015G>A, NM_001353702.2:c.1012G>A, NM_001353702.1:c.1012G>A, NM_001353712.2:c.1012G>A, NM_001353712.1:c.1012G>A, NR_148518.2:n.1142G>A, NR_148518.1:n.1381G>A, NM_001353752.2:c.985G>A, NM_001353752.1:c.985G>A, NM_001353748.2:c.988G>A, NM_001353748.1:c.988G>A, NM_001353709.2:c.985G>A, NM_001353709.1:c.985G>A, NR_148519.2:n.1139G>A, NR_148519.1:n.1378G>A, NM_001353715.2:c.988G>A, NM_001353715.1:c.988G>A, NM_001353755.2:c.982G>A, NM_001353755.1:c.982G>A, NM_001353753.2:c.985G>A, NM_001353753.1:c.985G>A, NM_001353750.2:c.985G>A, NM_001353750.1:c.985G>A, NM_001353721.2:c.985G>A, NM_001353721.1:c.985G>A, NM_001353710.2:c.988G>A, NM_001353710.1:c.988G>A, NM_001353695.2:c.985G>A, NM_001353695.1:c.985G>A, NM_001353725.2:c.982G>A, NM_001353725.1:c.982G>A, NM_001353714.2:c.985G>A, NM_001353714.1:c.985G>A, NM_001353711.2:c.982G>A, NM_001353711.1:c.982G>A, NM_001353708.2:c.1018G>A, NM_001353708.1:c.1018G>A, NM_001353743.2:c.1018G>A, NM_001353743.1:c.1018G>A, NM_001353723.2:c.1015G>A, NM_001353723.1:c.1015G>A, NM_001353696.2:c.1015G>A, NM_001353696.1:c.1015G>A, NM_001353754.2:c.1012G>A, NM_001353754.1:c.1012G>A, NM_001353747.2:c.1015G>A, NM_001353747.1:c.1015G>A, NM_001353736.2:c.1018G>A, NM_001353736.1:c.1018G>A, NM_001353730.2:c.1015G>A, NM_001353730.1:c.1015G>A, NM_001353729.2:c.1015G>A, NM_001353729.1:c.1015G>A, NM_001353737.2:c.1015G>A, NM_001353737.1:c.1015G>A, NM_001353716.2:c.1012G>A, NM_001353716.1:c.1012G>A, NM_001025089.2:c.988G>A, NM_001025089.1:c.988G>A, NM_001353719.2:c.988G>A, NM_001353719.1:c.988G>A, NM_001353713.2:c.985G>A, NM_001353713.1:c.985G>A, NM_001353700.2:c.988G>A, NM_001353700.1:c.988G>A, NM_001353697.2:c.985G>A, NM_001353697.1:c.985G>A, NM_001353732.2:c.985G>A, NM_001353732.1:c.985G>A, NM_001353727.2:c.985G>A, NM_001353727.1:c.985G>A, NM_001353720.2:c.988G>A, NM_001353720.1:c.988G>A, NM_001353706.2:c.982G>A, NM_001353706.1:c.982G>A, NM_001353699.2:c.985G>A, NM_001353699.1:c.985G>A, NM_001353722.2:c.982G>A, NM_001353722.1:c.982G>A, NM_001353756.2:c.646G>A, NM_001353756.1:c.646G>A, NM_001353761.2:c.646G>A, NM_001353761.1:c.646G>A, NM_001353757.2:c.619G>A, NM_001353757.1:c.619G>A, NM_001353760.2:c.619G>A, NM_001353760.1:c.619G>A, NM_001353759.2:c.616G>A, NM_001353759.1:c.616G>A, NM_001353758.2:c.616G>A, NM_001353758.1:c.616G>A, XM_047437628.1:c.1018G>A, XM_047437629.1:c.1015G>A, XM_047437632.1:c.1018G>A, XM_047437633.1:c.1018G>A, XM_047437635.1:c.1018G>A, XM_047437634.1:c.1015G>A, XM_047437630.1:c.988G>A, XM_047437631.1:c.988G>A, XM_047437636.1:c.988G>A, XM_047437637.1:c.985G>A, XM_047437669.1:c.985G>A, XM_047437638.1:c.988G>A, XM_047437671.1:c.985G>A, XM_047437639.1:c.1018G>A, XM_047437642.1:c.1018G>A, XM_047437641.1:c.1018G>A, XM_047437640.1:c.1015G>A, XM_047437645.1:c.1018G>A, XM_047437644.1:c.1015G>A, XM_047437643.1:c.1015G>A, XM_047437646.1:c.1015G>A, XM_047437653.1:c.988G>A, XM_047437670.1:c.988G>A, XM_047437648.1:c.988G>A, XM_047437647.1:c.985G>A, XM_047437651.1:c.988G>A, XM_047437650.1:c.985G>A, XM_047437649.1:c.985G>A, XM_047437652.1:c.985G>A, XM_047437654.1:c.1018G>A, XM_047437657.1:c.1018G>A, XM_047437656.1:c.1018G>A, XM_047437655.1:c.1015G>A, XM_047437660.1:c.1018G>A, XM_047437659.1:c.1015G>A, XM_047437658.1:c.1015G>A, XM_047437661.1:c.1015G>A, XM_047437662.1:c.988G>A, XM_047437665.1:c.988G>A, XM_047437664.1:c.988G>A, XM_047437663.1:c.985G>A, XM_047437668.1:c.988G>A, XM_047437667.1:c.985G>A, XM_047437666.1:c.985G>A, NP_064565.1:p.Gly340Ser, NP_001340669.1:p.Gly340Ser, NP_001340678.1:p.Gly339Ser, NP_001340664.1:p.Gly329Ser, NP_001340662.1:p.Gly328Ser, NP_001340663.1:p.Gly340Ser, NP_001340675.1:p.Gly339Ser, NP_001340660.1:p.Gly340Ser, NP_001340671.1:p.Gly339Ser, NP_001340632.1:p.Gly330Ser, NP_001340670.1:p.Gly329Ser, NP_001340655.1:p.Gly329Ser, NP_001340657.1:p.Gly329Ser, NP_001340668.1:p.Gly328Ser, NP_001340646.1:p.Gly330Ser, NP_001340636.1:p.Gly329Ser, NP_001340634.1:p.Gly328Ser, NP_001340680.1:p.Gly340Ser, NP_001340673.1:p.Gly340Ser, NP_001340627.1:p.Gly339Ser, NP_001020258.1:p.Gly339Ser, NP_001340674.1:p.Gly339Ser, NP_001340667.1:p.Gly339Ser, NP_001340653.1:p.Gly340Ser, NP_001317532.1:p.Gly339Ser, NP_001020259.1:p.Gly338Ser, NP_001340647.1:p.Gly339Ser, NP_001340631.1:p.Gly338Ser, NP_001340641.1:p.Gly338Ser, NP_001340681.1:p.Gly329Ser, NP_001340677.1:p.Gly330Ser, NP_001340638.1:p.Gly329Ser, NP_001340644.1:p.Gly330Ser, NP_001340684.1:p.Gly328Ser, NP_001340682.1:p.Gly329Ser, NP_001340679.1:p.Gly329Ser, NP_001340650.1:p.Gly329Ser, NP_001340639.1:p.Gly330Ser, NP_001340624.1:p.Gly329Ser, NP_001340654.1:p.Gly328Ser, NP_001340643.1:p.Gly329Ser, NP_001340640.1:p.Gly328Ser, NP_001340637.1:p.Gly340Ser, NP_001340672.1:p.Gly340Ser, NP_001340652.1:p.Gly339Ser, NP_001340625.1:p.Gly339Ser, NP_001340683.1:p.Gly338Ser, NP_001340676.1:p.Gly339Ser, NP_001340665.1:p.Gly340Ser, NP_001340659.1:p.Gly339Ser, NP_001340658.1:p.Gly339Ser, NP_001340666.1:p.Gly339Ser, NP_001340645.1:p.Gly338Ser, NP_001020260.1:p.Gly330Ser, NP_001340648.1:p.Gly330Ser, NP_001340642.1:p.Gly329Ser, NP_001340629.1:p.Gly330Ser, NP_001340626.1:p.Gly329Ser, NP_001340661.1:p.Gly329Ser, NP_001340656.1:p.Gly329Ser, NP_001340649.1:p.Gly330Ser, NP_001340635.1:p.Gly328Ser, NP_001340628.1:p.Gly329Ser, NP_001340651.1:p.Gly328Ser, NP_001340685.1:p.Gly216Ser, NP_001340690.1:p.Gly216Ser, NP_001340686.1:p.Gly207Ser, NP_001340689.1:p.Gly207Ser, NP_001340688.1:p.Gly206Ser, NP_001340687.1:p.Gly206Ser, XP_047293584.1:p.Gly340Ser, XP_047293585.1:p.Gly339Ser, XP_047293588.1:p.Gly340Ser, XP_047293589.1:p.Gly340Ser, XP_047293591.1:p.Gly340Ser, XP_047293590.1:p.Gly339Ser, XP_047293586.1:p.Gly330Ser, XP_047293587.1:p.Gly330Ser, XP_047293592.1:p.Gly330Ser, XP_047293593.1:p.Gly329Ser, XP_047293625.1:p.Gly329Ser, XP_047293594.1:p.Gly330Ser, XP_047293627.1:p.Gly329Ser, XP_047293595.1:p.Gly340Ser, XP_047293598.1:p.Gly340Ser, XP_047293597.1:p.Gly340Ser, XP_047293596.1:p.Gly339Ser, XP_047293601.1:p.Gly340Ser, XP_047293600.1:p.Gly339Ser, XP_047293599.1:p.Gly339Ser, XP_047293602.1:p.Gly339Ser, XP_047293609.1:p.Gly330Ser, XP_047293626.1:p.Gly330Ser, XP_047293604.1:p.Gly330Ser, XP_047293603.1:p.Gly329Ser, XP_047293607.1:p.Gly330Ser, XP_047293606.1:p.Gly329Ser, XP_047293605.1:p.Gly329Ser, XP_047293608.1:p.Gly329Ser, XP_047293610.1:p.Gly340Ser, XP_047293613.1:p.Gly340Ser, XP_047293612.1:p.Gly340Ser, XP_047293611.1:p.Gly339Ser, XP_047293616.1:p.Gly340Ser, XP_047293615.1:p.Gly339Ser, XP_047293614.1:p.Gly339Ser, XP_047293617.1:p.Gly339Ser, XP_047293618.1:p.Gly330Ser, XP_047293621.1:p.Gly330Ser, XP_047293620.1:p.Gly330Ser, XP_047293619.1:p.Gly329Ser, XP_047293624.1:p.Gly330Ser, XP_047293623.1:p.Gly329Ser, XP_047293622.1:p.Gly329Ser

                                16.

                                rs1461023433 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  18:37253891 (GRCh38)
                                  18:34833854 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:37253890:C:T
                                  Gene:
                                  CELF4 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000018.10:g.37253891C>T, NC_000018.9:g.34833854C>T, NM_020180.4:c.1381G>A, NM_020180.3:c.1381G>A, NM_001353740.2:c.1460G>A, NM_001353740.1:c.1460G>A, NM_001353749.2:c.1457G>A, NM_001353749.1:c.1457G>A, NM_001353735.2:c.1427G>A, NM_001353735.1:c.1427G>A, NM_001353733.2:c.1418G>A, NM_001353733.1:c.1418G>A, NR_148527.2:n.1538G>A, NR_148527.1:n.1777G>A, NR_148528.2:n.1535G>A, NR_148528.1:n.1774G>A, NR_148526.2:n.1535G>A, NR_148526.1:n.1774G>A, NR_148521.2:n.1535G>A, NR_148521.1:n.1774G>A, NR_148520.2:n.1532G>A, NR_148520.1:n.1771G>A, NM_001353734.2:c.1460G>A, NM_001353734.1:c.1460G>A, NM_001353746.2:c.1457G>A, NM_001353746.1:c.1457G>A, NM_001353731.2:c.1457G>A, NM_001353731.1:c.1457G>A, NR_148523.2:n.1508G>A, NR_148523.1:n.1747G>A, NM_001353742.2:c.1435G>A, NM_001353742.1:c.1435G>A, NR_148525.2:n.1505G>A, NR_148525.1:n.1744G>A, NR_148524.2:n.1505G>A, NR_148524.1:n.1744G>A, NR_148522.2:n.1502G>A, NR_148522.1:n.1741G>A, NM_001353703.2:c.1430G>A, NM_001353703.1:c.1430G>A, NM_001353741.2:c.1427G>A, NM_001353741.1:c.1427G>A, NM_001353726.2:c.1427G>A, NM_001353726.1:c.1427G>A, NM_001353728.2:c.1424G>A, NM_001353728.1:c.1424G>A, NM_001353739.2:c.1421G>A, NM_001353739.1:c.1421G>A, NM_001353717.2:c.1411G>A, NM_001353717.1:c.1411G>A, NM_001353707.2:c.1408G>A, NM_001353707.1:c.1408G>A, NM_001353705.2:c.1402G>A, NM_001353705.1:c.1402G>A, NM_001353751.2:c.1378G>A, NM_001353751.1:c.1378G>A, NM_001353744.2:c.1378G>A, NM_001353744.1:c.1378G>A, NM_001353698.2:c.1378G>A, NM_001353698.1:c.1378G>A, NM_001025087.2:c.1378G>A, NM_001025087.1:c.1378G>A, NM_001353745.2:c.1375G>A, NM_001353745.1:c.1375G>A, NM_001353738.2:c.1375G>A, NM_001353738.1:c.1375G>A, NM_001353724.2:c.1375G>A, NM_001353724.1:c.1375G>A, NM_001330603.2:c.1375G>A, NM_001330603.1:c.1375G>A, NM_001025088.2:c.1375G>A, NM_001025088.1:c.1375G>A, NM_001353718.2:c.1372G>A, NM_001353718.1:c.1372G>A, NM_001353702.2:c.1372G>A, NM_001353702.1:c.1372G>A, NM_001353712.2:c.1369G>A, NM_001353712.1:c.1369G>A, NR_148518.2:n.1421G>A, NR_148518.1:n.1660G>A, NM_001353752.2:c.1348G>A, NM_001353752.1:c.1348G>A, NM_001353748.2:c.1348G>A, NM_001353748.1:c.1348G>A, NM_001353709.2:c.1348G>A, NM_001353709.1:c.1348G>A, NR_148519.2:n.1418G>A, NR_148519.1:n.1657G>A, NM_001353715.2:c.1346G>A, NM_001353715.1:c.1346G>A, NM_001353755.2:c.1345G>A, NM_001353755.1:c.1345G>A, NM_001353753.2:c.1345G>A, NM_001353753.1:c.1345G>A, NM_001353750.2:c.1345G>A, NM_001353750.1:c.1345G>A, NM_001353721.2:c.1345G>A, NM_001353721.1:c.1345G>A, NM_001353710.2:c.1345G>A, NM_001353710.1:c.1345G>A, NM_001353695.2:c.1345G>A, NM_001353695.1:c.1345G>A, NM_001353725.2:c.1342G>A, NM_001353725.1:c.1342G>A, NM_001353714.2:c.1342G>A, NM_001353714.1:c.1342G>A, NM_001353711.2:c.1342G>A, NM_001353711.1:c.1342G>A, NM_001353708.2:c.1297G>A, NM_001353708.1:c.1297G>A, NM_001353743.2:c.1294G>A, NM_001353743.1:c.1294G>A, NM_001353723.2:c.1294G>A, NM_001353723.1:c.1294G>A, NM_001353696.2:c.1294G>A, NM_001353696.1:c.1294G>A, NM_001353754.2:c.1291G>A, NM_001353754.1:c.1291G>A, NM_001353747.2:c.1291G>A, NM_001353747.1:c.1291G>A, NM_001353736.2:c.1291G>A, NM_001353736.1:c.1291G>A, NM_001353730.2:c.1291G>A, NM_001353730.1:c.1291G>A, NM_001353729.2:c.1291G>A, NM_001353729.1:c.1291G>A, NM_001353737.2:c.1288G>A, NM_001353737.1:c.1288G>A, NM_001353716.2:c.1288G>A, NM_001353716.1:c.1288G>A, NM_001025089.2:c.1267G>A, NM_001025089.1:c.1267G>A, NM_001353719.2:c.1264G>A, NM_001353719.1:c.1264G>A, NM_001353713.2:c.1264G>A, NM_001353713.1:c.1264G>A, NM_001353700.2:c.1264G>A, NM_001353700.1:c.1264G>A, NM_001353697.2:c.1264G>A, NM_001353697.1:c.1264G>A, NM_001353732.2:c.1261G>A, NM_001353732.1:c.1261G>A, NM_001353727.2:c.1261G>A, NM_001353727.1:c.1261G>A, NM_001353720.2:c.1261G>A, NM_001353720.1:c.1261G>A, NM_001353706.2:c.1261G>A, NM_001353706.1:c.1261G>A, NM_001353699.2:c.1261G>A, NM_001353699.1:c.1261G>A, NM_001353722.2:c.1258G>A, NM_001353722.1:c.1258G>A, NM_001353756.2:c.1009G>A, NM_001353756.1:c.1009G>A, NM_001353761.2:c.1006G>A, NM_001353761.1:c.1006G>A, NM_001353757.2:c.982G>A, NM_001353757.1:c.982G>A, NM_001353760.2:c.979G>A, NM_001353760.1:c.979G>A, NM_001353759.2:c.979G>A, NM_001353759.1:c.979G>A, NM_001353758.2:c.895G>A, NM_001353758.1:c.895G>A, XM_047437628.1:c.1460G>A, XM_047437629.1:c.1457G>A, XM_047437632.1:c.1441G>A, XM_047437633.1:c.1438G>A, XM_047437635.1:c.1435G>A, XM_047437634.1:c.1435G>A, XM_047437630.1:c.1430G>A, XM_047437631.1:c.1427G>A, XM_047437636.1:c.1411G>A, XM_047437637.1:c.1408G>A, XM_047437669.1:c.1405G>A, XM_047437638.1:c.1405G>A, XM_047437671.1:c.1402G>A, XM_047437639.1:c.1381G>A, XM_047437642.1:c.1378G>A, XM_047437641.1:c.1378G>A, XM_047437640.1:c.1378G>A, XM_047437645.1:c.1375G>A, XM_047437644.1:c.1375G>A, XM_047437643.1:c.1375G>A, XM_047437646.1:c.1372G>A, XM_047437653.1:c.1351G>A, XM_047437670.1:c.1348G>A, XM_047437648.1:c.1348G>A, XM_047437647.1:c.1348G>A, XM_047437651.1:c.1345G>A, XM_047437650.1:c.1345G>A, XM_047437649.1:c.1345G>A, XM_047437652.1:c.1342G>A, XM_047437654.1:c.1297G>A, XM_047437657.1:c.1294G>A, XM_047437656.1:c.1294G>A, XM_047437655.1:c.1294G>A, XM_047437660.1:c.1291G>A, XM_047437659.1:c.1291G>A, XM_047437658.1:c.1291G>A, XM_047437661.1:c.1288G>A, XM_047437662.1:c.1267G>A, XM_047437665.1:c.1264G>A, XM_047437664.1:c.1264G>A, XM_047437663.1:c.1264G>A, XM_047437668.1:c.1261G>A, XM_047437667.1:c.1261G>A, XM_047437666.1:c.1261G>A, NP_064565.1:p.Ala461Thr, NP_001340669.1:p.Gly487Asp, NP_001340678.1:p.Gly486Asp, NP_001340664.1:p.Gly476Asp, NP_001340662.1:p.Gly473Asp, NP_001340663.1:p.Gly487Asp, NP_001340675.1:p.Gly486Asp, NP_001340660.1:p.Gly486Asp, NP_001340671.1:p.Ala479Thr, NP_001340632.1:p.Gly477Asp, NP_001340670.1:p.Gly476Asp, NP_001340655.1:p.Gly476Asp, NP_001340657.1:p.Gly475Asp, NP_001340668.1:p.Gly474Asp, NP_001340646.1:p.Ala471Thr, NP_001340636.1:p.Ala470Thr, NP_001340634.1:p.Ala468Thr, NP_001340680.1:p.Ala460Thr, NP_001340673.1:p.Ala460Thr, NP_001340627.1:p.Ala460Thr, NP_001020258.1:p.Ala460Thr, NP_001340674.1:p.Ala459Thr, NP_001340667.1:p.Ala459Thr, NP_001340653.1:p.Ala459Thr, NP_001317532.1:p.Ala459Thr, NP_001020259.1:p.Ala459Thr, NP_001340647.1:p.Ala458Thr, NP_001340631.1:p.Ala458Thr, NP_001340641.1:p.Ala457Thr, NP_001340681.1:p.Ala450Thr, NP_001340677.1:p.Ala450Thr, NP_001340638.1:p.Ala450Thr, NP_001340644.1:p.Gly449Asp, NP_001340684.1:p.Ala449Thr, NP_001340682.1:p.Ala449Thr, NP_001340679.1:p.Ala449Thr, NP_001340650.1:p.Ala449Thr, NP_001340639.1:p.Ala449Thr, NP_001340624.1:p.Ala449Thr, NP_001340654.1:p.Ala448Thr, NP_001340643.1:p.Ala448Thr, NP_001340640.1:p.Ala448Thr, NP_001340637.1:p.Ala433Thr, NP_001340672.1:p.Ala432Thr, NP_001340652.1:p.Ala432Thr, NP_001340625.1:p.Ala432Thr, NP_001340683.1:p.Ala431Thr, NP_001340676.1:p.Ala431Thr, NP_001340665.1:p.Ala431Thr, NP_001340659.1:p.Ala431Thr, NP_001340658.1:p.Ala431Thr, NP_001340666.1:p.Ala430Thr, NP_001340645.1:p.Ala430Thr, NP_001020260.1:p.Ala423Thr, NP_001340648.1:p.Ala422Thr, NP_001340642.1:p.Ala422Thr, NP_001340629.1:p.Ala422Thr, NP_001340626.1:p.Ala422Thr, NP_001340661.1:p.Ala421Thr, NP_001340656.1:p.Ala421Thr, NP_001340649.1:p.Ala421Thr, NP_001340635.1:p.Ala421Thr, NP_001340628.1:p.Ala421Thr, NP_001340651.1:p.Ala420Thr, NP_001340685.1:p.Ala337Thr, NP_001340690.1:p.Ala336Thr, NP_001340686.1:p.Ala328Thr, NP_001340689.1:p.Ala327Thr, NP_001340688.1:p.Ala327Thr, NP_001340687.1:p.Ala299Thr, XP_047293584.1:p.Gly487Asp, XP_047293585.1:p.Gly486Asp, XP_047293588.1:p.Ala481Thr, XP_047293589.1:p.Ala480Thr, XP_047293591.1:p.Ala479Thr, XP_047293590.1:p.Ala479Thr, XP_047293586.1:p.Gly477Asp, XP_047293587.1:p.Gly476Asp, XP_047293592.1:p.Ala471Thr, XP_047293593.1:p.Ala470Thr, XP_047293625.1:p.Ala469Thr, XP_047293594.1:p.Ala469Thr, XP_047293627.1:p.Ala468Thr, XP_047293595.1:p.Ala461Thr, XP_047293598.1:p.Ala460Thr, XP_047293597.1:p.Ala460Thr, XP_047293596.1:p.Ala460Thr, XP_047293601.1:p.Ala459Thr, XP_047293600.1:p.Ala459Thr, XP_047293599.1:p.Ala459Thr, XP_047293602.1:p.Ala458Thr, XP_047293609.1:p.Ala451Thr, XP_047293626.1:p.Ala450Thr, XP_047293604.1:p.Ala450Thr, XP_047293603.1:p.Ala450Thr, XP_047293607.1:p.Ala449Thr, XP_047293606.1:p.Ala449Thr, XP_047293605.1:p.Ala449Thr, XP_047293608.1:p.Ala448Thr, XP_047293610.1:p.Ala433Thr, XP_047293613.1:p.Ala432Thr, XP_047293612.1:p.Ala432Thr, XP_047293611.1:p.Ala432Thr, XP_047293616.1:p.Ala431Thr, XP_047293615.1:p.Ala431Thr, XP_047293614.1:p.Ala431Thr, XP_047293617.1:p.Ala430Thr, XP_047293618.1:p.Ala423Thr, XP_047293621.1:p.Ala422Thr, XP_047293620.1:p.Ala422Thr, XP_047293619.1:p.Ala422Thr, XP_047293624.1:p.Ala421Thr, XP_047293623.1:p.Ala421Thr, XP_047293622.1:p.Ala421Thr

                                  17.

                                  rs1457189056 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    18:37273098 (GRCh38)
                                    18:34853061 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:37273097:A:T
                                    Gene:
                                    CELF4 (Varview), LOC105372068 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000018.10:g.37273098A>T, NC_000018.9:g.34853061A>T, NM_020180.4:c.867T>A, NM_020180.3:c.867T>A, NM_001353740.2:c.867T>A, NM_001353740.1:c.867T>A, NM_001353749.2:c.864T>A, NM_001353749.1:c.864T>A, NM_001353735.2:c.834T>A, NM_001353735.1:c.834T>A, NM_001353733.2:c.831T>A, NM_001353733.1:c.831T>A, NR_148527.2:n.1024T>A, NR_148527.1:n.1263T>A, NR_148528.2:n.1021T>A, NR_148528.1:n.1260T>A, NR_148526.2:n.1021T>A, NR_148526.1:n.1260T>A, NR_148521.2:n.1024T>A, NR_148521.1:n.1263T>A, NR_148520.2:n.1021T>A, NR_148520.1:n.1260T>A, NM_001353734.2:c.867T>A, NM_001353734.1:c.867T>A, NM_001353746.2:c.864T>A, NM_001353746.1:c.864T>A, NM_001353731.2:c.867T>A, NM_001353731.1:c.867T>A, NR_148523.2:n.994T>A, NR_148523.1:n.1233T>A, NM_001353742.2:c.864T>A, NM_001353742.1:c.864T>A, NR_148525.2:n.991T>A, NR_148525.1:n.1230T>A, NR_148524.2:n.991T>A, NR_148524.1:n.1230T>A, NR_148522.2:n.988T>A, NR_148522.1:n.1227T>A, NM_001353703.2:c.837T>A, NM_001353703.1:c.837T>A, NM_001353741.2:c.834T>A, NM_001353741.1:c.834T>A, NM_001353726.2:c.834T>A, NM_001353726.1:c.834T>A, NM_001353728.2:c.834T>A, NM_001353728.1:c.834T>A, NM_001353739.2:c.831T>A, NM_001353739.1:c.831T>A, NM_001353717.2:c.837T>A, NM_001353717.1:c.837T>A, NM_001353707.2:c.834T>A, NM_001353707.1:c.834T>A, NM_001353705.2:c.831T>A, NM_001353705.1:c.831T>A, NM_001353751.2:c.867T>A, NM_001353751.1:c.867T>A, NM_001353744.2:c.867T>A, NM_001353744.1:c.867T>A, NM_001353698.2:c.864T>A, NM_001353698.1:c.864T>A, NM_001025087.2:c.864T>A, NM_001025087.1:c.864T>A, NM_001353745.2:c.864T>A, NM_001353745.1:c.864T>A, NM_001353738.2:c.864T>A, NM_001353738.1:c.864T>A, NM_001353724.2:c.867T>A, NM_001353724.1:c.867T>A, NM_001330603.2:c.864T>A, NM_001330603.1:c.864T>A, NM_001025088.2:c.861T>A, NM_001025088.1:c.861T>A, NM_001353718.2:c.864T>A, NM_001353718.1:c.864T>A, NM_001353702.2:c.861T>A, NM_001353702.1:c.861T>A, NM_001353712.2:c.861T>A, NM_001353712.1:c.861T>A, NR_148518.2:n.991T>A, NR_148518.1:n.1230T>A, NM_001353752.2:c.834T>A, NM_001353752.1:c.834T>A, NM_001353748.2:c.837T>A, NM_001353748.1:c.837T>A, NM_001353709.2:c.834T>A, NM_001353709.1:c.834T>A, NR_148519.2:n.988T>A, NR_148519.1:n.1227T>A, NM_001353715.2:c.837T>A, NM_001353715.1:c.837T>A, NM_001353755.2:c.831T>A, NM_001353755.1:c.831T>A, NM_001353753.2:c.834T>A, NM_001353753.1:c.834T>A, NM_001353750.2:c.834T>A, NM_001353750.1:c.834T>A, NM_001353721.2:c.834T>A, NM_001353721.1:c.834T>A, NM_001353710.2:c.837T>A, NM_001353710.1:c.837T>A, NM_001353695.2:c.834T>A, NM_001353695.1:c.834T>A, NM_001353725.2:c.831T>A, NM_001353725.1:c.831T>A, NM_001353714.2:c.834T>A, NM_001353714.1:c.834T>A, NM_001353711.2:c.831T>A, NM_001353711.1:c.831T>A, NM_001353708.2:c.867T>A, NM_001353708.1:c.867T>A, NM_001353743.2:c.867T>A, NM_001353743.1:c.867T>A, NM_001353723.2:c.864T>A, NM_001353723.1:c.864T>A, NM_001353696.2:c.864T>A, NM_001353696.1:c.864T>A, NM_001353754.2:c.861T>A, NM_001353754.1:c.861T>A, NM_001353747.2:c.864T>A, NM_001353747.1:c.864T>A, NM_001353736.2:c.867T>A, NM_001353736.1:c.867T>A, NM_001353730.2:c.864T>A, NM_001353730.1:c.864T>A, NM_001353729.2:c.864T>A, NM_001353729.1:c.864T>A, NM_001353737.2:c.864T>A, NM_001353737.1:c.864T>A, NM_001353716.2:c.861T>A, NM_001353716.1:c.861T>A, NM_001025089.2:c.837T>A, NM_001025089.1:c.837T>A, NM_001353719.2:c.837T>A, NM_001353719.1:c.837T>A, NM_001353713.2:c.834T>A, NM_001353713.1:c.834T>A, NM_001353700.2:c.837T>A, NM_001353700.1:c.837T>A, NM_001353697.2:c.834T>A, NM_001353697.1:c.834T>A, NM_001353732.2:c.834T>A, NM_001353732.1:c.834T>A, NM_001353727.2:c.834T>A, NM_001353727.1:c.834T>A, NM_001353720.2:c.837T>A, NM_001353720.1:c.837T>A, NM_001353706.2:c.831T>A, NM_001353706.1:c.831T>A, NM_001353699.2:c.834T>A, NM_001353699.1:c.834T>A, NM_001353722.2:c.831T>A, NM_001353722.1:c.831T>A, NM_001353756.2:c.495T>A, NM_001353756.1:c.495T>A, NM_001353761.2:c.495T>A, NM_001353761.1:c.495T>A, NM_001353757.2:c.468T>A, NM_001353757.1:c.468T>A, NM_001353760.2:c.468T>A, NM_001353760.1:c.468T>A, NM_001353759.2:c.465T>A, NM_001353759.1:c.465T>A, NM_001353758.2:c.465T>A, NM_001353758.1:c.465T>A, XM_047437628.1:c.867T>A, XM_047437629.1:c.864T>A, XM_047437632.1:c.867T>A, XM_047437633.1:c.867T>A, XM_047437635.1:c.867T>A, XM_047437634.1:c.864T>A, XM_047437630.1:c.837T>A, XM_047437631.1:c.837T>A, XM_047437636.1:c.837T>A, XM_047437637.1:c.834T>A, XM_047437669.1:c.834T>A, XM_047437638.1:c.837T>A, XM_047437671.1:c.834T>A, XM_047437639.1:c.867T>A, XM_047437642.1:c.867T>A, XM_047437641.1:c.867T>A, XM_047437640.1:c.864T>A, XM_047437645.1:c.867T>A, XM_047437644.1:c.864T>A, XM_047437643.1:c.864T>A, XM_047437646.1:c.864T>A, XM_047437653.1:c.837T>A, XM_047437670.1:c.837T>A, XM_047437648.1:c.837T>A, XM_047437647.1:c.834T>A, XM_047437651.1:c.837T>A, XM_047437650.1:c.834T>A, XM_047437649.1:c.834T>A, XM_047437652.1:c.834T>A, XM_047437654.1:c.867T>A, XM_047437657.1:c.867T>A, XM_047437656.1:c.867T>A, XM_047437655.1:c.864T>A, XM_047437660.1:c.867T>A, XM_047437659.1:c.864T>A, XM_047437658.1:c.864T>A, XM_047437661.1:c.864T>A, XM_047437662.1:c.837T>A, XM_047437665.1:c.837T>A, XM_047437664.1:c.837T>A, XM_047437663.1:c.834T>A, XM_047437668.1:c.837T>A, XM_047437667.1:c.834T>A, XM_047437666.1:c.834T>A

                                    18.

                                    rs1455709653 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      18:37273022 (GRCh38)
                                      18:34852985 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:37273021:T:G
                                      Gene:
                                      CELF4 (Varview), LOC105372068 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000018.10:g.37273022T>G, NC_000018.9:g.34852985T>G, NM_020180.4:c.943A>C, NM_020180.3:c.943A>C, NM_001353740.2:c.943A>C, NM_001353740.1:c.943A>C, NM_001353749.2:c.940A>C, NM_001353749.1:c.940A>C, NM_001353735.2:c.910A>C, NM_001353735.1:c.910A>C, NM_001353733.2:c.907A>C, NM_001353733.1:c.907A>C, NR_148527.2:n.1100A>C, NR_148527.1:n.1339A>C, NR_148528.2:n.1097A>C, NR_148528.1:n.1336A>C, NR_148526.2:n.1097A>C, NR_148526.1:n.1336A>C, NR_148521.2:n.1100A>C, NR_148521.1:n.1339A>C, NR_148520.2:n.1097A>C, NR_148520.1:n.1336A>C, NM_001353734.2:c.943A>C, NM_001353734.1:c.943A>C, NM_001353746.2:c.940A>C, NM_001353746.1:c.940A>C, NM_001353731.2:c.943A>C, NM_001353731.1:c.943A>C, NR_148523.2:n.1070A>C, NR_148523.1:n.1309A>C, NM_001353742.2:c.940A>C, NM_001353742.1:c.940A>C, NR_148525.2:n.1067A>C, NR_148525.1:n.1306A>C, NR_148524.2:n.1067A>C, NR_148524.1:n.1306A>C, NR_148522.2:n.1064A>C, NR_148522.1:n.1303A>C, NM_001353703.2:c.913A>C, NM_001353703.1:c.913A>C, NM_001353741.2:c.910A>C, NM_001353741.1:c.910A>C, NM_001353726.2:c.910A>C, NM_001353726.1:c.910A>C, NM_001353728.2:c.910A>C, NM_001353728.1:c.910A>C, NM_001353739.2:c.907A>C, NM_001353739.1:c.907A>C, NM_001353717.2:c.913A>C, NM_001353717.1:c.913A>C, NM_001353707.2:c.910A>C, NM_001353707.1:c.910A>C, NM_001353705.2:c.907A>C, NM_001353705.1:c.907A>C, NM_001353751.2:c.943A>C, NM_001353751.1:c.943A>C, NM_001353744.2:c.943A>C, NM_001353744.1:c.943A>C, NM_001353698.2:c.940A>C, NM_001353698.1:c.940A>C, NM_001025087.2:c.940A>C, NM_001025087.1:c.940A>C, NM_001353745.2:c.940A>C, NM_001353745.1:c.940A>C, NM_001353738.2:c.940A>C, NM_001353738.1:c.940A>C, NM_001353724.2:c.943A>C, NM_001353724.1:c.943A>C, NM_001330603.2:c.940A>C, NM_001330603.1:c.940A>C, NM_001025088.2:c.937A>C, NM_001025088.1:c.937A>C, NM_001353718.2:c.940A>C, NM_001353718.1:c.940A>C, NM_001353702.2:c.937A>C, NM_001353702.1:c.937A>C, NM_001353712.2:c.937A>C, NM_001353712.1:c.937A>C, NR_148518.2:n.1067A>C, NR_148518.1:n.1306A>C, NM_001353752.2:c.910A>C, NM_001353752.1:c.910A>C, NM_001353748.2:c.913A>C, NM_001353748.1:c.913A>C, NM_001353709.2:c.910A>C, NM_001353709.1:c.910A>C, NR_148519.2:n.1064A>C, NR_148519.1:n.1303A>C, NM_001353715.2:c.913A>C, NM_001353715.1:c.913A>C, NM_001353755.2:c.907A>C, NM_001353755.1:c.907A>C, NM_001353753.2:c.910A>C, NM_001353753.1:c.910A>C, NM_001353750.2:c.910A>C, NM_001353750.1:c.910A>C, NM_001353721.2:c.910A>C, NM_001353721.1:c.910A>C, NM_001353710.2:c.913A>C, NM_001353710.1:c.913A>C, NM_001353695.2:c.910A>C, NM_001353695.1:c.910A>C, NM_001353725.2:c.907A>C, NM_001353725.1:c.907A>C, NM_001353714.2:c.910A>C, NM_001353714.1:c.910A>C, NM_001353711.2:c.907A>C, NM_001353711.1:c.907A>C, NM_001353708.2:c.943A>C, NM_001353708.1:c.943A>C, NM_001353743.2:c.943A>C, NM_001353743.1:c.943A>C, NM_001353723.2:c.940A>C, NM_001353723.1:c.940A>C, NM_001353696.2:c.940A>C, NM_001353696.1:c.940A>C, NM_001353754.2:c.937A>C, NM_001353754.1:c.937A>C, NM_001353747.2:c.940A>C, NM_001353747.1:c.940A>C, NM_001353736.2:c.943A>C, NM_001353736.1:c.943A>C, NM_001353730.2:c.940A>C, NM_001353730.1:c.940A>C, NM_001353729.2:c.940A>C, NM_001353729.1:c.940A>C, NM_001353737.2:c.940A>C, NM_001353737.1:c.940A>C, NM_001353716.2:c.937A>C, NM_001353716.1:c.937A>C, NM_001025089.2:c.913A>C, NM_001025089.1:c.913A>C, NM_001353719.2:c.913A>C, NM_001353719.1:c.913A>C, NM_001353713.2:c.910A>C, NM_001353713.1:c.910A>C, NM_001353700.2:c.913A>C, NM_001353700.1:c.913A>C, NM_001353697.2:c.910A>C, NM_001353697.1:c.910A>C, NM_001353732.2:c.910A>C, NM_001353732.1:c.910A>C, NM_001353727.2:c.910A>C, NM_001353727.1:c.910A>C, NM_001353720.2:c.913A>C, NM_001353720.1:c.913A>C, NM_001353706.2:c.907A>C, NM_001353706.1:c.907A>C, NM_001353699.2:c.910A>C, NM_001353699.1:c.910A>C, NM_001353722.2:c.907A>C, NM_001353722.1:c.907A>C, NM_001353756.2:c.571A>C, NM_001353756.1:c.571A>C, NM_001353761.2:c.571A>C, NM_001353761.1:c.571A>C, NM_001353757.2:c.544A>C, NM_001353757.1:c.544A>C, NM_001353760.2:c.544A>C, NM_001353760.1:c.544A>C, NM_001353759.2:c.541A>C, NM_001353759.1:c.541A>C, NM_001353758.2:c.541A>C, NM_001353758.1:c.541A>C, XM_047437628.1:c.943A>C, XM_047437629.1:c.940A>C, XM_047437632.1:c.943A>C, XM_047437633.1:c.943A>C, XM_047437635.1:c.943A>C, XM_047437634.1:c.940A>C, XM_047437630.1:c.913A>C, XM_047437631.1:c.913A>C, XM_047437636.1:c.913A>C, XM_047437637.1:c.910A>C, XM_047437669.1:c.910A>C, XM_047437638.1:c.913A>C, XM_047437671.1:c.910A>C, XM_047437639.1:c.943A>C, XM_047437642.1:c.943A>C, XM_047437641.1:c.943A>C, XM_047437640.1:c.940A>C, XM_047437645.1:c.943A>C, XM_047437644.1:c.940A>C, XM_047437643.1:c.940A>C, XM_047437646.1:c.940A>C, XM_047437653.1:c.913A>C, XM_047437670.1:c.913A>C, XM_047437648.1:c.913A>C, XM_047437647.1:c.910A>C, XM_047437651.1:c.913A>C, XM_047437650.1:c.910A>C, XM_047437649.1:c.910A>C, XM_047437652.1:c.910A>C, XM_047437654.1:c.943A>C, XM_047437657.1:c.943A>C, XM_047437656.1:c.943A>C, XM_047437655.1:c.940A>C, XM_047437660.1:c.943A>C, XM_047437659.1:c.940A>C, XM_047437658.1:c.940A>C, XM_047437661.1:c.940A>C, XM_047437662.1:c.913A>C, XM_047437665.1:c.913A>C, XM_047437664.1:c.913A>C, XM_047437663.1:c.910A>C, XM_047437668.1:c.913A>C, XM_047437667.1:c.910A>C, XM_047437666.1:c.910A>C, NP_064565.1:p.Thr315Pro, NP_001340669.1:p.Thr315Pro, NP_001340678.1:p.Thr314Pro, NP_001340664.1:p.Thr304Pro, NP_001340662.1:p.Thr303Pro, NP_001340663.1:p.Thr315Pro, NP_001340675.1:p.Thr314Pro, NP_001340660.1:p.Thr315Pro, NP_001340671.1:p.Thr314Pro, NP_001340632.1:p.Thr305Pro, NP_001340670.1:p.Thr304Pro, NP_001340655.1:p.Thr304Pro, NP_001340657.1:p.Thr304Pro, NP_001340668.1:p.Thr303Pro, NP_001340646.1:p.Thr305Pro, NP_001340636.1:p.Thr304Pro, NP_001340634.1:p.Thr303Pro, NP_001340680.1:p.Thr315Pro, NP_001340673.1:p.Thr315Pro, NP_001340627.1:p.Thr314Pro, NP_001020258.1:p.Thr314Pro, NP_001340674.1:p.Thr314Pro, NP_001340667.1:p.Thr314Pro, NP_001340653.1:p.Thr315Pro, NP_001317532.1:p.Thr314Pro, NP_001020259.1:p.Thr313Pro, NP_001340647.1:p.Thr314Pro, NP_001340631.1:p.Thr313Pro, NP_001340641.1:p.Thr313Pro, NP_001340681.1:p.Thr304Pro, NP_001340677.1:p.Thr305Pro, NP_001340638.1:p.Thr304Pro, NP_001340644.1:p.Thr305Pro, NP_001340684.1:p.Thr303Pro, NP_001340682.1:p.Thr304Pro, NP_001340679.1:p.Thr304Pro, NP_001340650.1:p.Thr304Pro, NP_001340639.1:p.Thr305Pro, NP_001340624.1:p.Thr304Pro, NP_001340654.1:p.Thr303Pro, NP_001340643.1:p.Thr304Pro, NP_001340640.1:p.Thr303Pro, NP_001340637.1:p.Thr315Pro, NP_001340672.1:p.Thr315Pro, NP_001340652.1:p.Thr314Pro, NP_001340625.1:p.Thr314Pro, NP_001340683.1:p.Thr313Pro, NP_001340676.1:p.Thr314Pro, NP_001340665.1:p.Thr315Pro, NP_001340659.1:p.Thr314Pro, NP_001340658.1:p.Thr314Pro, NP_001340666.1:p.Thr314Pro, NP_001340645.1:p.Thr313Pro, NP_001020260.1:p.Thr305Pro, NP_001340648.1:p.Thr305Pro, NP_001340642.1:p.Thr304Pro, NP_001340629.1:p.Thr305Pro, NP_001340626.1:p.Thr304Pro, NP_001340661.1:p.Thr304Pro, NP_001340656.1:p.Thr304Pro, NP_001340649.1:p.Thr305Pro, NP_001340635.1:p.Thr303Pro, NP_001340628.1:p.Thr304Pro, NP_001340651.1:p.Thr303Pro, NP_001340685.1:p.Thr191Pro, NP_001340690.1:p.Thr191Pro, NP_001340686.1:p.Thr182Pro, NP_001340689.1:p.Thr182Pro, NP_001340688.1:p.Thr181Pro, NP_001340687.1:p.Thr181Pro, XP_047293584.1:p.Thr315Pro, XP_047293585.1:p.Thr314Pro, XP_047293588.1:p.Thr315Pro, XP_047293589.1:p.Thr315Pro, XP_047293591.1:p.Thr315Pro, XP_047293590.1:p.Thr314Pro, XP_047293586.1:p.Thr305Pro, XP_047293587.1:p.Thr305Pro, XP_047293592.1:p.Thr305Pro, XP_047293593.1:p.Thr304Pro, XP_047293625.1:p.Thr304Pro, XP_047293594.1:p.Thr305Pro, XP_047293627.1:p.Thr304Pro, XP_047293595.1:p.Thr315Pro, XP_047293598.1:p.Thr315Pro, XP_047293597.1:p.Thr315Pro, XP_047293596.1:p.Thr314Pro, XP_047293601.1:p.Thr315Pro, XP_047293600.1:p.Thr314Pro, XP_047293599.1:p.Thr314Pro, XP_047293602.1:p.Thr314Pro, XP_047293609.1:p.Thr305Pro, XP_047293626.1:p.Thr305Pro, XP_047293604.1:p.Thr305Pro, XP_047293603.1:p.Thr304Pro, XP_047293607.1:p.Thr305Pro, XP_047293606.1:p.Thr304Pro, XP_047293605.1:p.Thr304Pro, XP_047293608.1:p.Thr304Pro, XP_047293610.1:p.Thr315Pro, XP_047293613.1:p.Thr315Pro, XP_047293612.1:p.Thr315Pro, XP_047293611.1:p.Thr314Pro, XP_047293616.1:p.Thr315Pro, XP_047293615.1:p.Thr314Pro, XP_047293614.1:p.Thr314Pro, XP_047293617.1:p.Thr314Pro, XP_047293618.1:p.Thr305Pro, XP_047293621.1:p.Thr305Pro, XP_047293620.1:p.Thr305Pro, XP_047293619.1:p.Thr304Pro, XP_047293624.1:p.Thr305Pro, XP_047293623.1:p.Thr304Pro, XP_047293622.1:p.Thr304Pro

                                      19.

                                      rs1449160614 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        18:37274351 (GRCh38)
                                        18:34854314 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:37274350:A:G
                                        Gene:
                                        CELF4 (Varview), LOC105372068 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000018.10:g.37274351A>G, NC_000018.9:g.34854314A>G, NM_020180.4:c.761T>C, NM_020180.3:c.761T>C, NM_001353740.2:c.761T>C, NM_001353740.1:c.761T>C, NM_001353749.2:c.758T>C, NM_001353749.1:c.758T>C, NM_001353735.2:c.728T>C, NM_001353735.1:c.728T>C, NM_001353733.2:c.728T>C, NM_001353733.1:c.728T>C, NR_148527.2:n.918T>C, NR_148527.1:n.1157T>C, NR_148528.2:n.915T>C, NR_148528.1:n.1154T>C, NR_148526.2:n.918T>C, NR_148526.1:n.1157T>C, NR_148521.2:n.918T>C, NR_148521.1:n.1157T>C, NR_148520.2:n.918T>C, NR_148520.1:n.1157T>C, NM_001353734.2:c.761T>C, NM_001353734.1:c.761T>C, NM_001353746.2:c.761T>C, NM_001353746.1:c.761T>C, NM_001353731.2:c.761T>C, NM_001353731.1:c.761T>C, NR_148523.2:n.888T>C, NR_148523.1:n.1127T>C, NM_001353742.2:c.758T>C, NM_001353742.1:c.758T>C, NR_148525.2:n.885T>C, NR_148525.1:n.1124T>C, NR_148524.2:n.888T>C, NR_148524.1:n.1127T>C, NR_148522.2:n.885T>C, NR_148522.1:n.1124T>C, NM_001353703.2:c.731T>C, NM_001353703.1:c.731T>C, NM_001353741.2:c.731T>C, NM_001353741.1:c.731T>C, NM_001353726.2:c.728T>C, NM_001353726.1:c.728T>C, NM_001353728.2:c.728T>C, NM_001353728.1:c.728T>C, NM_001353739.2:c.728T>C, NM_001353739.1:c.728T>C, NM_001353717.2:c.731T>C, NM_001353717.1:c.731T>C, NM_001353707.2:c.728T>C, NM_001353707.1:c.728T>C, NM_001353705.2:c.728T>C, NM_001353705.1:c.728T>C, NM_001353751.2:c.761T>C, NM_001353751.1:c.761T>C, NM_001353744.2:c.761T>C, NM_001353744.1:c.761T>C, NM_001353698.2:c.758T>C, NM_001353698.1:c.758T>C, NM_001025087.2:c.761T>C, NM_001025087.1:c.761T>C, NM_001353745.2:c.761T>C, NM_001353745.1:c.761T>C, NM_001353738.2:c.758T>C, NM_001353738.1:c.758T>C, NM_001353724.2:c.761T>C, NM_001353724.1:c.761T>C, NM_001330603.2:c.758T>C, NM_001330603.1:c.758T>C, NM_001025088.2:c.758T>C, NM_001025088.1:c.758T>C, NM_001353718.2:c.758T>C, NM_001353718.1:c.758T>C, NM_001353702.2:c.758T>C, NM_001353702.1:c.758T>C, NM_001353712.2:c.758T>C, NM_001353712.1:c.758T>C, NR_148518.2:n.885T>C, NR_148518.1:n.1124T>C, NM_001353752.2:c.731T>C, NM_001353752.1:c.731T>C, NM_001353748.2:c.731T>C, NM_001353748.1:c.731T>C, NM_001353709.2:c.728T>C, NM_001353709.1:c.728T>C, NR_148519.2:n.885T>C, NR_148519.1:n.1124T>C, NM_001353715.2:c.731T>C, NM_001353715.1:c.731T>C, NM_001353755.2:c.728T>C, NM_001353755.1:c.728T>C, NM_001353753.2:c.728T>C, NM_001353753.1:c.728T>C, NM_001353750.2:c.731T>C, NM_001353750.1:c.731T>C, NM_001353721.2:c.731T>C, NM_001353721.1:c.731T>C, NM_001353710.2:c.731T>C, NM_001353710.1:c.731T>C, NM_001353695.2:c.728T>C, NM_001353695.1:c.728T>C, NM_001353725.2:c.728T>C, NM_001353725.1:c.728T>C, NM_001353714.2:c.728T>C, NM_001353714.1:c.728T>C, NM_001353711.2:c.728T>C, NM_001353711.1:c.728T>C, NM_001353708.2:c.761T>C, NM_001353708.1:c.761T>C, NM_001353743.2:c.761T>C, NM_001353743.1:c.761T>C, NM_001353723.2:c.761T>C, NM_001353723.1:c.761T>C, NM_001353696.2:c.758T>C, NM_001353696.1:c.758T>C, NM_001353754.2:c.758T>C, NM_001353754.1:c.758T>C, NM_001353747.2:c.761T>C, NM_001353747.1:c.761T>C, NM_001353736.2:c.761T>C, NM_001353736.1:c.761T>C, NM_001353730.2:c.758T>C, NM_001353730.1:c.758T>C, NM_001353729.2:c.758T>C, NM_001353729.1:c.758T>C, NM_001353737.2:c.758T>C, NM_001353737.1:c.758T>C, NM_001353716.2:c.758T>C, NM_001353716.1:c.758T>C, NM_001025089.2:c.731T>C, NM_001025089.1:c.731T>C, NM_001353719.2:c.731T>C, NM_001353719.1:c.731T>C, NM_001353713.2:c.731T>C, NM_001353713.1:c.731T>C, NM_001353700.2:c.731T>C, NM_001353700.1:c.731T>C, NM_001353697.2:c.728T>C, NM_001353697.1:c.728T>C, NM_001353732.2:c.728T>C, NM_001353732.1:c.728T>C, NM_001353727.2:c.728T>C, NM_001353727.1:c.728T>C, NM_001353720.2:c.731T>C, NM_001353720.1:c.731T>C, NM_001353706.2:c.728T>C, NM_001353706.1:c.728T>C, NM_001353699.2:c.731T>C, NM_001353699.1:c.731T>C, NM_001353722.2:c.728T>C, NM_001353722.1:c.728T>C, NM_001353756.2:c.389T>C, NM_001353756.1:c.389T>C, NM_001353761.2:c.389T>C, NM_001353761.1:c.389T>C, NM_001353757.2:c.362T>C, NM_001353757.1:c.362T>C, NM_001353760.2:c.362T>C, NM_001353760.1:c.362T>C, NM_001353759.2:c.359T>C, NM_001353759.1:c.359T>C, NM_001353758.2:c.359T>C, NM_001353758.1:c.359T>C, XM_047437628.1:c.761T>C, XM_047437629.1:c.758T>C, XM_047437632.1:c.761T>C, XM_047437633.1:c.761T>C, XM_047437635.1:c.761T>C, XM_047437634.1:c.758T>C, XM_047437630.1:c.731T>C, XM_047437631.1:c.731T>C, XM_047437636.1:c.731T>C, XM_047437637.1:c.728T>C, XM_047437669.1:c.728T>C, XM_047437638.1:c.731T>C, XM_047437671.1:c.728T>C, XM_047437639.1:c.761T>C, XM_047437642.1:c.761T>C, XM_047437641.1:c.761T>C, XM_047437640.1:c.758T>C, XM_047437645.1:c.761T>C, XM_047437644.1:c.758T>C, XM_047437643.1:c.758T>C, XM_047437646.1:c.758T>C, XM_047437653.1:c.731T>C, XM_047437670.1:c.731T>C, XM_047437648.1:c.731T>C, XM_047437647.1:c.728T>C, XM_047437651.1:c.731T>C, XM_047437650.1:c.728T>C, XM_047437649.1:c.728T>C, XM_047437652.1:c.728T>C, XM_047437654.1:c.761T>C, XM_047437657.1:c.761T>C, XM_047437656.1:c.761T>C, XM_047437655.1:c.758T>C, XM_047437660.1:c.761T>C, XM_047437659.1:c.758T>C, XM_047437658.1:c.758T>C, XM_047437661.1:c.758T>C, XM_047437662.1:c.731T>C, XM_047437665.1:c.731T>C, XM_047437664.1:c.731T>C, XM_047437663.1:c.728T>C, XM_047437668.1:c.731T>C, XM_047437667.1:c.728T>C, XM_047437666.1:c.728T>C, NP_064565.1:p.Met254Thr, NP_001340669.1:p.Met254Thr, NP_001340678.1:p.Met253Thr, NP_001340664.1:p.Met243Thr, NP_001340662.1:p.Met243Thr, NP_001340663.1:p.Met254Thr, NP_001340675.1:p.Met254Thr, NP_001340660.1:p.Met254Thr, NP_001340671.1:p.Met253Thr, NP_001340632.1:p.Met244Thr, NP_001340670.1:p.Met244Thr, NP_001340655.1:p.Met243Thr, NP_001340657.1:p.Met243Thr, NP_001340668.1:p.Met243Thr, NP_001340646.1:p.Met244Thr, NP_001340636.1:p.Met243Thr, NP_001340634.1:p.Met243Thr, NP_001340680.1:p.Met254Thr, NP_001340673.1:p.Met254Thr, NP_001340627.1:p.Met253Thr, NP_001020258.1:p.Met254Thr, NP_001340674.1:p.Met254Thr, NP_001340667.1:p.Met253Thr, NP_001340653.1:p.Met254Thr, NP_001317532.1:p.Met253Thr, NP_001020259.1:p.Met253Thr, NP_001340647.1:p.Met253Thr, NP_001340631.1:p.Met253Thr, NP_001340641.1:p.Met253Thr, NP_001340681.1:p.Met244Thr, NP_001340677.1:p.Met244Thr, NP_001340638.1:p.Met243Thr, NP_001340644.1:p.Met244Thr, NP_001340684.1:p.Met243Thr, NP_001340682.1:p.Met243Thr, NP_001340679.1:p.Met244Thr, NP_001340650.1:p.Met244Thr, NP_001340639.1:p.Met244Thr, NP_001340624.1:p.Met243Thr, NP_001340654.1:p.Met243Thr, NP_001340643.1:p.Met243Thr, NP_001340640.1:p.Met243Thr, NP_001340637.1:p.Met254Thr, NP_001340672.1:p.Met254Thr, NP_001340652.1:p.Met254Thr, NP_001340625.1:p.Met253Thr, NP_001340683.1:p.Met253Thr, NP_001340676.1:p.Met254Thr, NP_001340665.1:p.Met254Thr, NP_001340659.1:p.Met253Thr, NP_001340658.1:p.Met253Thr, NP_001340666.1:p.Met253Thr, NP_001340645.1:p.Met253Thr, NP_001020260.1:p.Met244Thr, NP_001340648.1:p.Met244Thr, NP_001340642.1:p.Met244Thr, NP_001340629.1:p.Met244Thr, NP_001340626.1:p.Met243Thr, NP_001340661.1:p.Met243Thr, NP_001340656.1:p.Met243Thr, NP_001340649.1:p.Met244Thr, NP_001340635.1:p.Met243Thr, NP_001340628.1:p.Met244Thr, NP_001340651.1:p.Met243Thr, NP_001340685.1:p.Met130Thr, NP_001340690.1:p.Met130Thr, NP_001340686.1:p.Met121Thr, NP_001340689.1:p.Met121Thr, NP_001340688.1:p.Met120Thr, NP_001340687.1:p.Met120Thr, XP_047293584.1:p.Met254Thr, XP_047293585.1:p.Met253Thr, XP_047293588.1:p.Met254Thr, XP_047293589.1:p.Met254Thr, XP_047293591.1:p.Met254Thr, XP_047293590.1:p.Met253Thr, XP_047293586.1:p.Met244Thr, XP_047293587.1:p.Met244Thr, XP_047293592.1:p.Met244Thr, XP_047293593.1:p.Met243Thr, XP_047293625.1:p.Met243Thr, XP_047293594.1:p.Met244Thr, XP_047293627.1:p.Met243Thr, XP_047293595.1:p.Met254Thr, XP_047293598.1:p.Met254Thr, XP_047293597.1:p.Met254Thr, XP_047293596.1:p.Met253Thr, XP_047293601.1:p.Met254Thr, XP_047293600.1:p.Met253Thr, XP_047293599.1:p.Met253Thr, XP_047293602.1:p.Met253Thr, XP_047293609.1:p.Met244Thr, XP_047293626.1:p.Met244Thr, XP_047293604.1:p.Met244Thr, XP_047293603.1:p.Met243Thr, XP_047293607.1:p.Met244Thr, XP_047293606.1:p.Met243Thr, XP_047293605.1:p.Met243Thr, XP_047293608.1:p.Met243Thr, XP_047293610.1:p.Met254Thr, XP_047293613.1:p.Met254Thr, XP_047293612.1:p.Met254Thr, XP_047293611.1:p.Met253Thr, XP_047293616.1:p.Met254Thr, XP_047293615.1:p.Met253Thr, XP_047293614.1:p.Met253Thr, XP_047293617.1:p.Met253Thr, XP_047293618.1:p.Met244Thr, XP_047293621.1:p.Met244Thr, XP_047293620.1:p.Met244Thr, XP_047293619.1:p.Met243Thr, XP_047293624.1:p.Met244Thr, XP_047293623.1:p.Met243Thr, XP_047293622.1:p.Met243Thr

                                        20.

                                        rs1447229046 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          18:37274863 (GRCh38)
                                          18:34854826 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:37274862:G:A
                                          Gene:
                                          CELF4 (Varview), LOC105372068 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
                                          HGVS:
                                          NC_000018.10:g.37274863G>A, NC_000018.9:g.34854826G>A, NM_020180.4:c.599C>T, NM_020180.3:c.599C>T, NM_001353740.2:c.599C>T, NM_001353740.1:c.599C>T, NM_001353749.2:c.596C>T, NM_001353749.1:c.596C>T, NM_001353735.2:c.566C>T, NM_001353735.1:c.566C>T, NM_001353733.2:c.566C>T, NM_001353733.1:c.566C>T, NR_148527.2:n.756C>T, NR_148527.1:n.995C>T, NR_148528.2:n.753C>T, NR_148528.1:n.992C>T, NR_148526.2:n.756C>T, NR_148526.1:n.995C>T, NR_148521.2:n.756C>T, NR_148521.1:n.995C>T, NR_148520.2:n.756C>T, NR_148520.1:n.995C>T, NM_001353734.2:c.599C>T, NM_001353734.1:c.599C>T, NM_001353746.2:c.599C>T, NM_001353746.1:c.599C>T, NM_001353731.2:c.599C>T, NM_001353731.1:c.599C>T, NR_148523.2:n.726C>T, NR_148523.1:n.965C>T, NM_001353742.2:c.596C>T, NM_001353742.1:c.596C>T, NR_148525.2:n.723C>T, NR_148525.1:n.962C>T, NR_148524.2:n.726C>T, NR_148524.1:n.965C>T, NR_148522.2:n.723C>T, NR_148522.1:n.962C>T, NM_001353703.2:c.569C>T, NM_001353703.1:c.569C>T, NM_001353741.2:c.569C>T, NM_001353741.1:c.569C>T, NM_001353726.2:c.566C>T, NM_001353726.1:c.566C>T, NM_001353728.2:c.566C>T, NM_001353728.1:c.566C>T, NM_001353739.2:c.566C>T, NM_001353739.1:c.566C>T, NM_001353717.2:c.569C>T, NM_001353717.1:c.569C>T, NM_001353707.2:c.566C>T, NM_001353707.1:c.566C>T, NM_001353705.2:c.566C>T, NM_001353705.1:c.566C>T, NM_001353751.2:c.599C>T, NM_001353751.1:c.599C>T, NM_001353744.2:c.599C>T, NM_001353744.1:c.599C>T, NM_001353698.2:c.596C>T, NM_001353698.1:c.596C>T, NM_001025087.2:c.599C>T, NM_001025087.1:c.599C>T, NM_001353745.2:c.599C>T, NM_001353745.1:c.599C>T, NM_001353738.2:c.596C>T, NM_001353738.1:c.596C>T, NM_001353724.2:c.599C>T, NM_001353724.1:c.599C>T, NM_001330603.2:c.596C>T, NM_001330603.1:c.596C>T, NM_001025088.2:c.596C>T, NM_001025088.1:c.596C>T, NM_001353718.2:c.596C>T, NM_001353718.1:c.596C>T, NM_001353702.2:c.596C>T, NM_001353702.1:c.596C>T, NM_001353712.2:c.596C>T, NM_001353712.1:c.596C>T, NR_148518.2:n.723C>T, NR_148518.1:n.962C>T, NM_001353752.2:c.569C>T, NM_001353752.1:c.569C>T, NM_001353748.2:c.569C>T, NM_001353748.1:c.569C>T, NM_001353709.2:c.566C>T, NM_001353709.1:c.566C>T, NR_148519.2:n.723C>T, NR_148519.1:n.962C>T, NM_001353715.2:c.569C>T, NM_001353715.1:c.569C>T, NM_001353755.2:c.566C>T, NM_001353755.1:c.566C>T, NM_001353753.2:c.566C>T, NM_001353753.1:c.566C>T, NM_001353750.2:c.569C>T, NM_001353750.1:c.569C>T, NM_001353721.2:c.569C>T, NM_001353721.1:c.569C>T, NM_001353710.2:c.569C>T, NM_001353710.1:c.569C>T, NM_001353695.2:c.566C>T, NM_001353695.1:c.566C>T, NM_001353725.2:c.566C>T, NM_001353725.1:c.566C>T, NM_001353714.2:c.566C>T, NM_001353714.1:c.566C>T, NM_001353711.2:c.566C>T, NM_001353711.1:c.566C>T, NM_001353708.2:c.599C>T, NM_001353708.1:c.599C>T, NM_001353743.2:c.599C>T, NM_001353743.1:c.599C>T, NM_001353723.2:c.599C>T, NM_001353723.1:c.599C>T, NM_001353696.2:c.596C>T, NM_001353696.1:c.596C>T, NM_001353754.2:c.596C>T, NM_001353754.1:c.596C>T, NM_001353747.2:c.599C>T, NM_001353747.1:c.599C>T, NM_001353736.2:c.599C>T, NM_001353736.1:c.599C>T, NM_001353730.2:c.596C>T, NM_001353730.1:c.596C>T, NM_001353729.2:c.596C>T, NM_001353729.1:c.596C>T, NM_001353737.2:c.596C>T, NM_001353737.1:c.596C>T, NM_001353716.2:c.596C>T, NM_001353716.1:c.596C>T, NM_001025089.2:c.569C>T, NM_001025089.1:c.569C>T, NM_001353719.2:c.569C>T, NM_001353719.1:c.569C>T, NM_001353713.2:c.569C>T, NM_001353713.1:c.569C>T, NM_001353700.2:c.569C>T, NM_001353700.1:c.569C>T, NM_001353697.2:c.566C>T, NM_001353697.1:c.566C>T, NM_001353732.2:c.566C>T, NM_001353732.1:c.566C>T, NM_001353727.2:c.566C>T, NM_001353727.1:c.566C>T, NM_001353720.2:c.569C>T, NM_001353720.1:c.569C>T, NM_001353706.2:c.566C>T, NM_001353706.1:c.566C>T, NM_001353699.2:c.569C>T, NM_001353699.1:c.569C>T, NM_001353722.2:c.566C>T, NM_001353722.1:c.566C>T, NM_001353756.2:c.227C>T, NM_001353756.1:c.227C>T, NM_001353761.2:c.227C>T, NM_001353761.1:c.227C>T, NM_001353757.2:c.200C>T, NM_001353757.1:c.200C>T, NM_001353760.2:c.200C>T, NM_001353760.1:c.200C>T, NM_001353759.2:c.197C>T, NM_001353759.1:c.197C>T, NM_001353758.2:c.197C>T, NM_001353758.1:c.197C>T, XM_047437628.1:c.599C>T, XM_047437629.1:c.596C>T, XM_047437632.1:c.599C>T, XM_047437633.1:c.599C>T, XM_047437635.1:c.599C>T, XM_047437634.1:c.596C>T, XM_047437630.1:c.569C>T, XM_047437631.1:c.569C>T, XM_047437636.1:c.569C>T, XM_047437637.1:c.566C>T, XM_047437669.1:c.566C>T, XM_047437638.1:c.569C>T, XM_047437671.1:c.566C>T, XM_047437639.1:c.599C>T, XM_047437642.1:c.599C>T, XM_047437641.1:c.599C>T, XM_047437640.1:c.596C>T, XM_047437645.1:c.599C>T, XM_047437644.1:c.596C>T, XM_047437643.1:c.596C>T, XM_047437646.1:c.596C>T, XM_047437653.1:c.569C>T, XM_047437670.1:c.569C>T, XM_047437648.1:c.569C>T, XM_047437647.1:c.566C>T, XM_047437651.1:c.569C>T, XM_047437650.1:c.566C>T, XM_047437649.1:c.566C>T, XM_047437652.1:c.566C>T, XM_047437654.1:c.599C>T, XM_047437657.1:c.599C>T, XM_047437656.1:c.599C>T, XM_047437655.1:c.596C>T, XM_047437660.1:c.599C>T, XM_047437659.1:c.596C>T, XM_047437658.1:c.596C>T, XM_047437661.1:c.596C>T, XM_047437662.1:c.569C>T, XM_047437665.1:c.569C>T, XM_047437664.1:c.569C>T, XM_047437663.1:c.566C>T, XM_047437668.1:c.569C>T, XM_047437667.1:c.566C>T, XM_047437666.1:c.566C>T, NP_064565.1:p.Ser200Phe, NP_001340669.1:p.Ser200Phe, NP_001340678.1:p.Ser199Phe, NP_001340664.1:p.Ser189Phe, NP_001340662.1:p.Ser189Phe, NP_001340663.1:p.Ser200Phe, NP_001340675.1:p.Ser200Phe, NP_001340660.1:p.Ser200Phe, NP_001340671.1:p.Ser199Phe, NP_001340632.1:p.Ser190Phe, NP_001340670.1:p.Ser190Phe, NP_001340655.1:p.Ser189Phe, NP_001340657.1:p.Ser189Phe, NP_001340668.1:p.Ser189Phe, NP_001340646.1:p.Ser190Phe, NP_001340636.1:p.Ser189Phe, NP_001340634.1:p.Ser189Phe, NP_001340680.1:p.Ser200Phe, NP_001340673.1:p.Ser200Phe, NP_001340627.1:p.Ser199Phe, NP_001020258.1:p.Ser200Phe, NP_001340674.1:p.Ser200Phe, NP_001340667.1:p.Ser199Phe, NP_001340653.1:p.Ser200Phe, NP_001317532.1:p.Ser199Phe, NP_001020259.1:p.Ser199Phe, NP_001340647.1:p.Ser199Phe, NP_001340631.1:p.Ser199Phe, NP_001340641.1:p.Ser199Phe, NP_001340681.1:p.Ser190Phe, NP_001340677.1:p.Ser190Phe, NP_001340638.1:p.Ser189Phe, NP_001340644.1:p.Ser190Phe, NP_001340684.1:p.Ser189Phe, NP_001340682.1:p.Ser189Phe, NP_001340679.1:p.Ser190Phe, NP_001340650.1:p.Ser190Phe, NP_001340639.1:p.Ser190Phe, NP_001340624.1:p.Ser189Phe, NP_001340654.1:p.Ser189Phe, NP_001340643.1:p.Ser189Phe, NP_001340640.1:p.Ser189Phe, NP_001340637.1:p.Ser200Phe, NP_001340672.1:p.Ser200Phe, NP_001340652.1:p.Ser200Phe, NP_001340625.1:p.Ser199Phe, NP_001340683.1:p.Ser199Phe, NP_001340676.1:p.Ser200Phe, NP_001340665.1:p.Ser200Phe, NP_001340659.1:p.Ser199Phe, NP_001340658.1:p.Ser199Phe, NP_001340666.1:p.Ser199Phe, NP_001340645.1:p.Ser199Phe, NP_001020260.1:p.Ser190Phe, NP_001340648.1:p.Ser190Phe, NP_001340642.1:p.Ser190Phe, NP_001340629.1:p.Ser190Phe, NP_001340626.1:p.Ser189Phe, NP_001340661.1:p.Ser189Phe, NP_001340656.1:p.Ser189Phe, NP_001340649.1:p.Ser190Phe, NP_001340635.1:p.Ser189Phe, NP_001340628.1:p.Ser190Phe, NP_001340651.1:p.Ser189Phe, NP_001340685.1:p.Ser76Phe, NP_001340690.1:p.Ser76Phe, NP_001340686.1:p.Ser67Phe, NP_001340689.1:p.Ser67Phe, NP_001340688.1:p.Ser66Phe, NP_001340687.1:p.Ser66Phe, XP_047293584.1:p.Ser200Phe, XP_047293585.1:p.Ser199Phe, XP_047293588.1:p.Ser200Phe, XP_047293589.1:p.Ser200Phe, XP_047293591.1:p.Ser200Phe, XP_047293590.1:p.Ser199Phe, XP_047293586.1:p.Ser190Phe, XP_047293587.1:p.Ser190Phe, XP_047293592.1:p.Ser190Phe, XP_047293593.1:p.Ser189Phe, XP_047293625.1:p.Ser189Phe, XP_047293594.1:p.Ser190Phe, XP_047293627.1:p.Ser189Phe, XP_047293595.1:p.Ser200Phe, XP_047293598.1:p.Ser200Phe, XP_047293597.1:p.Ser200Phe, XP_047293596.1:p.Ser199Phe, XP_047293601.1:p.Ser200Phe, XP_047293600.1:p.Ser199Phe, XP_047293599.1:p.Ser199Phe, XP_047293602.1:p.Ser199Phe, XP_047293609.1:p.Ser190Phe, XP_047293626.1:p.Ser190Phe, XP_047293604.1:p.Ser190Phe, XP_047293603.1:p.Ser189Phe, XP_047293607.1:p.Ser190Phe, XP_047293606.1:p.Ser189Phe, XP_047293605.1:p.Ser189Phe, XP_047293608.1:p.Ser189Phe, XP_047293610.1:p.Ser200Phe, XP_047293613.1:p.Ser200Phe, XP_047293612.1:p.Ser200Phe, XP_047293611.1:p.Ser199Phe, XP_047293616.1:p.Ser200Phe, XP_047293615.1:p.Ser199Phe, XP_047293614.1:p.Ser199Phe, XP_047293617.1:p.Ser199Phe, XP_047293618.1:p.Ser190Phe, XP_047293621.1:p.Ser190Phe, XP_047293620.1:p.Ser190Phe, XP_047293619.1:p.Ser189Phe, XP_047293624.1:p.Ser190Phe, XP_047293623.1:p.Ser189Phe, XP_047293622.1:p.Ser189Phe

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