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Items: 1 to 20 of 832

1.

rs1485672079 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    18:5445205 (GRCh38)
    18:5445204 (GRCh37)
    Canonical SPDI:
    NC_000018.10:5445204:C:G
    Gene:
    EPB41L3 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000018.10:g.5445205C>G, NC_000018.9:g.5445204C>G, NM_012307.5:c.421G>C, NM_012307.4:c.421G>C, NM_012307.3:c.421G>C, NM_001281534.3:c.421G>C, NM_001281534.2:c.421G>C, NM_001281534.1:c.421G>C, XM_017025620.3:c.421G>C, XM_017025620.2:c.421G>C, XM_017025620.1:c.421G>C, NM_001330557.2:c.421G>C, NM_001330557.1:c.421G>C, NM_001281535.2:c.94G>C, NM_001281535.1:c.94G>C, NM_001281533.2:c.421G>C, NM_001281533.1:c.421G>C, XM_017025619.2:c.421G>C, XM_017025619.1:c.421G>C, XM_017025626.2:c.421G>C, XM_017025626.1:c.421G>C, XM_017025631.2:c.421G>C, XM_017025631.1:c.421G>C, XM_047437372.1:c.94G>C, NM_001384685.1:c.421G>C, XM_047437361.1:c.421G>C, XM_047437364.1:c.421G>C, XM_047437366.1:c.421G>C, XM_047437367.1:c.421G>C, XM_047437368.1:c.421G>C, NM_001384698.1:c.94G>C, NM_001384699.1:c.94G>C, NM_001384700.1:c.94G>C, NM_001384701.1:c.94G>C, NM_001384702.1:c.94G>C, NM_001384703.1:c.94G>C, NM_001384704.1:c.94G>C, NM_001384684.1:c.421G>C, NM_001384705.1:c.94G>C, NM_001384683.1:c.94G>C, NM_001384706.1:c.94G>C, NM_001384688.1:c.421G>C, NM_001384686.1:c.421G>C, NM_001384690.1:c.421G>C, NM_001384687.1:c.421G>C, NM_001384689.1:c.421G>C, XM_047437384.1:c.94G>C, NM_001384682.1:c.421G>C, NM_001384691.1:c.421G>C, NM_001384692.1:c.421G>C, NM_001384693.1:c.421G>C, NM_001384694.1:c.421G>C, XM_047437378.1:c.421G>C, NM_001384695.1:c.421G>C, NM_001384696.1:c.421G>C, NM_001384697.1:c.421G>C, XM_047437380.1:c.421G>C, XM_047437381.1:c.421G>C, XM_047437383.1:c.421G>C, XM_047437382.1:c.421G>C, XM_047437369.1:c.94G>C, XM_047437370.1:c.94G>C, XM_047437358.1:c.421G>C, XM_047437359.1:c.421G>C, XM_047437360.1:c.421G>C, XM_047437362.1:c.421G>C, XM_047437363.1:c.421G>C, XM_047437365.1:c.421G>C, XM_047437379.1:c.94G>C, XM_047437373.1:c.421G>C, XM_047437371.1:c.421G>C, XM_047437375.1:c.421G>C, XM_047437374.1:c.421G>C, XM_047437376.1:c.421G>C, XM_047437377.1:c.421G>C, NP_036439.2:p.Glu141Gln, NP_001268463.1:p.Glu141Gln, XP_016881109.1:p.Glu141Gln, NP_001317486.1:p.Glu141Gln, NP_001268464.1:p.Glu32Gln, NP_001268462.1:p.Glu141Gln, XP_016881108.1:p.Glu141Gln, XP_016881115.1:p.Glu141Gln, XP_016881120.1:p.Glu141Gln, XP_047293328.1:p.Glu32Gln, NP_001371614.1:p.Glu141Gln, XP_047293317.1:p.Glu141Gln, XP_047293320.1:p.Glu141Gln, XP_047293322.1:p.Glu141Gln, XP_047293323.1:p.Glu141Gln, XP_047293324.1:p.Glu141Gln, NP_001371627.1:p.Glu32Gln, NP_001371628.1:p.Glu32Gln, NP_001371629.1:p.Glu32Gln, NP_001371630.1:p.Glu32Gln, NP_001371631.1:p.Glu32Gln, NP_001371632.1:p.Glu32Gln, NP_001371633.1:p.Glu32Gln, NP_001371613.1:p.Glu141Gln, NP_001371634.1:p.Glu32Gln, NP_001371612.1:p.Glu32Gln, NP_001371635.1:p.Glu32Gln, NP_001371617.1:p.Glu141Gln, NP_001371615.1:p.Glu141Gln, NP_001371619.1:p.Glu141Gln, NP_001371616.1:p.Glu141Gln, NP_001371618.1:p.Glu141Gln, XP_047293340.1:p.Glu32Gln, NP_001371611.1:p.Glu141Gln, NP_001371620.1:p.Glu141Gln, NP_001371621.1:p.Glu141Gln, NP_001371622.1:p.Glu141Gln, NP_001371623.1:p.Glu141Gln, XP_047293334.1:p.Glu141Gln, NP_001371624.1:p.Glu141Gln, NP_001371625.1:p.Glu141Gln, NP_001371626.1:p.Glu141Gln, XP_047293336.1:p.Glu141Gln, XP_047293337.1:p.Glu141Gln, XP_047293339.1:p.Glu141Gln, XP_047293338.1:p.Glu141Gln, XP_047293325.1:p.Glu32Gln, XP_047293326.1:p.Glu32Gln, XP_047293314.1:p.Glu141Gln, XP_047293315.1:p.Glu141Gln, XP_047293316.1:p.Glu141Gln, XP_047293318.1:p.Glu141Gln, XP_047293319.1:p.Glu141Gln, XP_047293321.1:p.Glu141Gln, XP_047293335.1:p.Glu32Gln, XP_047293329.1:p.Glu141Gln, XP_047293327.1:p.Glu141Gln, XP_047293331.1:p.Glu141Gln, XP_047293330.1:p.Glu141Gln, XP_047293332.1:p.Glu141Gln, XP_047293333.1:p.Glu141Gln

    2.

    rs1484979313 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->T [Show Flanks]
      Chromosome:
      18:5433504 (GRCh38)
      18:5433504 (GRCh37)
      Canonical SPDI:
      NC_000018.10:5433504:TTTTTT:TTTTTTT
      Gene:
      EPB41L3 (Varview)
      Functional Consequence:
      frameshift_variant,coding_sequence_variant
      HGVS:
      NC_000018.10:g.5433510dup, NC_000018.9:g.5433509dup, NM_012307.5:c.876dup, NM_012307.4:c.876dup, NM_012307.3:c.876dup, NM_001281534.3:c.876dup, NM_001281534.2:c.876dup, NM_001281534.1:c.876dup, XM_017025620.3:c.876dup, XM_017025620.2:c.876dup, XM_017025620.1:c.876dup, NM_001330557.2:c.876dup, NM_001330557.1:c.876dup, NM_001281535.2:c.549dup, NM_001281535.1:c.549dup, NM_001281533.2:c.876dup, NM_001281533.1:c.876dup, XM_017025619.2:c.876dup, XM_017025619.1:c.876dup, XM_017025626.2:c.876dup, XM_017025626.1:c.876dup, XM_017025631.2:c.876dup, XM_017025631.1:c.876dup, XM_047437372.1:c.549dup, NM_001384685.1:c.876dup, XM_047437361.1:c.876dup, XM_047437364.1:c.876dup, XM_047437366.1:c.876dup, XM_047437367.1:c.876dup, XM_047437368.1:c.876dup, NM_001384698.1:c.549dup, NM_001384699.1:c.549dup, NM_001384700.1:c.549dup, NM_001384701.1:c.549dup, NM_001384702.1:c.549dup, NM_001384703.1:c.549dup, NM_001384704.1:c.549dup, NM_001384684.1:c.876dup, NM_001384705.1:c.549dup, NM_001384683.1:c.549dup, NM_001384706.1:c.549dup, NM_001384688.1:c.876dup, NM_001384686.1:c.876dup, NM_001384690.1:c.876dup, NM_001384687.1:c.876dup, NM_001384689.1:c.876dup, XM_047437384.1:c.549dup, NM_001384682.1:c.876dup, NM_001384691.1:c.876dup, NM_001384692.1:c.876dup, NM_001384693.1:c.876dup, NM_001384694.1:c.876dup, XM_047437378.1:c.876dup, NM_001384695.1:c.876dup, NM_001384696.1:c.876dup, NM_001384697.1:c.876dup, XM_047437380.1:c.876dup, XM_047437381.1:c.876dup, XM_047437383.1:c.876dup, XM_047437382.1:c.876dup, XM_047437369.1:c.549dup, XM_047437370.1:c.549dup, XM_047437358.1:c.876dup, XM_047437359.1:c.876dup, XM_047437360.1:c.876dup, XM_047437362.1:c.876dup, XM_047437363.1:c.876dup, XM_047437365.1:c.876dup, XM_047437379.1:c.549dup, XM_047437373.1:c.876dup, XM_047437371.1:c.876dup, XM_047437375.1:c.876dup, XM_047437374.1:c.876dup, XM_047437376.1:c.876dup, XM_047437377.1:c.876dup, NP_036439.2:p.Leu293fs, NP_001268463.1:p.Leu293fs, XP_016881109.1:p.Leu293fs, NP_001317486.1:p.Leu293fs, NP_001268464.1:p.Leu184fs, NP_001268462.1:p.Leu293fs, XP_016881108.1:p.Leu293fs, XP_016881115.1:p.Leu293fs, XP_016881120.1:p.Leu293fs, XP_047293328.1:p.Leu184fs, NP_001371614.1:p.Leu293fs, XP_047293317.1:p.Leu293fs, XP_047293320.1:p.Leu293fs, XP_047293322.1:p.Leu293fs, XP_047293323.1:p.Leu293fs, XP_047293324.1:p.Leu293fs, NP_001371627.1:p.Leu184fs, NP_001371628.1:p.Leu184fs, NP_001371629.1:p.Leu184fs, NP_001371630.1:p.Leu184fs, NP_001371631.1:p.Leu184fs, NP_001371632.1:p.Leu184fs, NP_001371633.1:p.Leu184fs, NP_001371613.1:p.Leu293fs, NP_001371634.1:p.Leu184fs, NP_001371612.1:p.Leu184fs, NP_001371635.1:p.Leu184fs, NP_001371617.1:p.Leu293fs, NP_001371615.1:p.Leu293fs, NP_001371619.1:p.Leu293fs, NP_001371616.1:p.Leu293fs, NP_001371618.1:p.Leu293fs, XP_047293340.1:p.Leu184fs, NP_001371611.1:p.Leu293fs, NP_001371620.1:p.Leu293fs, NP_001371621.1:p.Leu293fs, NP_001371622.1:p.Leu293fs, NP_001371623.1:p.Leu293fs, XP_047293334.1:p.Leu293fs, NP_001371624.1:p.Leu293fs, NP_001371625.1:p.Leu293fs, NP_001371626.1:p.Leu293fs, XP_047293336.1:p.Leu293fs, XP_047293337.1:p.Leu293fs, XP_047293339.1:p.Leu293fs, XP_047293338.1:p.Leu293fs, XP_047293325.1:p.Leu184fs, XP_047293326.1:p.Leu184fs, XP_047293314.1:p.Leu293fs, XP_047293315.1:p.Leu293fs, XP_047293316.1:p.Leu293fs, XP_047293318.1:p.Leu293fs, XP_047293319.1:p.Leu293fs, XP_047293321.1:p.Leu293fs, XP_047293335.1:p.Leu184fs, XP_047293329.1:p.Leu293fs, XP_047293327.1:p.Leu293fs, XP_047293331.1:p.Leu293fs, XP_047293330.1:p.Leu293fs, XP_047293332.1:p.Leu293fs, XP_047293333.1:p.Leu293fs

      3.

      rs1484674755 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        18:5406942 (GRCh38)
        18:5406941 (GRCh37)
        Canonical SPDI:
        NC_000018.10:5406941:C:G,NC_000018.10:5406941:C:T
        Gene:
        EPB41L3 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        T=0.000008/2 (TOPMED)
        T=0.000014/2 (GnomAD)
        HGVS:
        NC_000018.10:g.5406942C>G, NC_000018.10:g.5406942C>T, NC_000018.9:g.5406941C>G, NC_000018.9:g.5406941C>T, NM_012307.5:c.2184G>C, NM_012307.5:c.2184G>A, NM_012307.4:c.2184G>C, NM_012307.4:c.2184G>A, NM_012307.3:c.2184G>C, NM_012307.3:c.2184G>A, NM_001281534.3:c.1641G>C, NM_001281534.3:c.1641G>A, NM_001281534.2:c.1641G>C, NM_001281534.2:c.1641G>A, NM_001281534.1:c.1641G>C, NM_001281534.1:c.1641G>A, XM_017025620.3:c.1641G>C, XM_017025620.3:c.1641G>A, XM_017025620.2:c.1641G>C, XM_017025620.2:c.1641G>A, XM_017025620.1:c.1641G>C, XM_017025620.1:c.1641G>A, NM_001330557.2:c.1677G>C, NM_001330557.2:c.1677G>A, NM_001330557.1:c.1677G>C, NM_001330557.1:c.1677G>A, NM_001281535.2:c.1314G>C, NM_001281535.2:c.1314G>A, NM_001281535.1:c.1314G>C, NM_001281535.1:c.1314G>A, NM_001281533.2:c.1677G>C, NM_001281533.2:c.1677G>A, NM_001281533.1:c.1677G>C, NM_001281533.1:c.1677G>A, XM_017025619.2:c.1641G>C, XM_017025619.2:c.1641G>A, XM_017025619.1:c.1641G>C, XM_017025619.1:c.1641G>A, XM_017025626.2:c.1641G>C, XM_017025626.2:c.1641G>A, XM_017025626.1:c.1641G>C, XM_017025626.1:c.1641G>A, XM_017025631.2:c.1587G>C, XM_017025631.2:c.1587G>A, XM_017025631.1:c.1587G>C, XM_017025631.1:c.1587G>A, XM_047437372.1:c.1911G>C, XM_047437372.1:c.1911G>A, NM_001384685.1:c.2238G>C, NM_001384685.1:c.2238G>A, XM_047437361.1:c.2238G>C, XM_047437361.1:c.2238G>A, XM_047437364.1:c.2202G>C, XM_047437364.1:c.2202G>A, XM_047437366.1:c.2238G>C, XM_047437366.1:c.2238G>A, XM_047437367.1:c.2202G>C, XM_047437367.1:c.2202G>A, XM_047437368.1:c.2202G>C, XM_047437368.1:c.2202G>A, NM_001384698.1:c.1350G>C, NM_001384698.1:c.1350G>A, NM_001384699.1:c.1314G>C, NM_001384699.1:c.1314G>A, NM_001384700.1:c.1296G>C, NM_001384700.1:c.1296G>A, NM_001384701.1:c.1350G>C, NM_001384701.1:c.1350G>A, NM_001384702.1:c.1260G>C, NM_001384702.1:c.1260G>A, NM_001384703.1:c.1350G>C, NM_001384703.1:c.1350G>A, NM_001384704.1:c.1350G>C, NM_001384704.1:c.1350G>A, NM_001384684.1:c.1677G>C, NM_001384684.1:c.1677G>A, NM_001384705.1:c.1296G>C, NM_001384705.1:c.1296G>A, NM_001384683.1:c.1314G>C, NM_001384683.1:c.1314G>A, NM_001384706.1:c.1296G>C, NM_001384706.1:c.1296G>A, NM_001384688.1:c.1623G>C, NM_001384688.1:c.1623G>A, NM_001384686.1:c.1641G>C, NM_001384686.1:c.1641G>A, NM_001384690.1:c.1677G>C, NM_001384690.1:c.1677G>A, NM_001384687.1:c.1623G>C, NM_001384687.1:c.1623G>A, NM_001384689.1:c.1677G>C, NM_001384689.1:c.1677G>A, XM_047437384.1:c.1314G>C, XM_047437384.1:c.1314G>A, NM_001384682.1:c.1677G>C, NM_001384682.1:c.1677G>A, NM_001384691.1:c.1677G>C, NM_001384691.1:c.1677G>A, NM_001384692.1:c.1623G>C, NM_001384692.1:c.1623G>A, NM_001384693.1:c.1641G>C, NM_001384693.1:c.1641G>A, NM_001384694.1:c.1623G>C, NM_001384694.1:c.1623G>A, XM_047437378.1:c.1641G>C, XM_047437378.1:c.1641G>A, NM_001384695.1:c.1677G>C, NM_001384695.1:c.1677G>A, NM_001384696.1:c.1587G>C, NM_001384696.1:c.1587G>A, NM_001384697.1:c.1641G>C, NM_001384697.1:c.1641G>A, XM_047437380.1:c.1641G>C, XM_047437380.1:c.1641G>A, XM_047437381.1:c.1641G>C, XM_047437381.1:c.1641G>A, XM_047437383.1:c.1587G>C, XM_047437383.1:c.1587G>A, XM_047437382.1:c.1587G>C, XM_047437382.1:c.1587G>A, XM_047437369.1:c.1911G>C, XM_047437369.1:c.1911G>A, XM_047437370.1:c.1857G>C, XM_047437370.1:c.1857G>A, XM_047437358.1:c.2238G>C, XM_047437358.1:c.2238G>A, XM_047437359.1:c.2202G>C, XM_047437359.1:c.2202G>A, XM_047437360.1:c.2238G>C, XM_047437360.1:c.2238G>A, XM_047437362.1:c.2238G>C, XM_047437362.1:c.2238G>A, XM_047437363.1:c.2238G>C, XM_047437363.1:c.2238G>A, XM_047437365.1:c.2202G>C, XM_047437365.1:c.2202G>A, XM_047437379.1:c.1350G>C, XM_047437379.1:c.1350G>A, XM_047437373.1:c.1677G>C, XM_047437373.1:c.1677G>A, XM_047437371.1:c.1641G>C, XM_047437371.1:c.1641G>A, XM_047437375.1:c.1587G>C, XM_047437375.1:c.1587G>A, XM_047437374.1:c.1587G>C, XM_047437374.1:c.1587G>A, XM_047437376.1:c.1623G>C, XM_047437376.1:c.1623G>A, XM_047437377.1:c.1587G>C, XM_047437377.1:c.1587G>A

        4.

        rs1484036618 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          18:5438103 (GRCh38)
          18:5438102 (GRCh37)
          Canonical SPDI:
          NC_000018.10:5438102:A:G
          Gene:
          EPB41L3 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          NC_000018.10:g.5438103A>G, NC_000018.9:g.5438102A>G, NM_012307.5:c.537T>C, NM_012307.4:c.537T>C, NM_012307.3:c.537T>C, NM_001281534.3:c.537T>C, NM_001281534.2:c.537T>C, NM_001281534.1:c.537T>C, XM_017025620.3:c.537T>C, XM_017025620.2:c.537T>C, XM_017025620.1:c.537T>C, NM_001330557.2:c.537T>C, NM_001330557.1:c.537T>C, NM_001281535.2:c.210T>C, NM_001281535.1:c.210T>C, NM_001281533.2:c.537T>C, NM_001281533.1:c.537T>C, XM_017025619.2:c.537T>C, XM_017025619.1:c.537T>C, XM_017025626.2:c.537T>C, XM_017025626.1:c.537T>C, XM_017025631.2:c.537T>C, XM_017025631.1:c.537T>C, XM_047437372.1:c.210T>C, NM_001384685.1:c.537T>C, XM_047437361.1:c.537T>C, XM_047437364.1:c.537T>C, XM_047437366.1:c.537T>C, XM_047437367.1:c.537T>C, XM_047437368.1:c.537T>C, NM_001384698.1:c.210T>C, NM_001384699.1:c.210T>C, NM_001384700.1:c.210T>C, NM_001384701.1:c.210T>C, NM_001384702.1:c.210T>C, NM_001384703.1:c.210T>C, NM_001384704.1:c.210T>C, NM_001384684.1:c.537T>C, NM_001384705.1:c.210T>C, NM_001384683.1:c.210T>C, NM_001384706.1:c.210T>C, NM_001384688.1:c.537T>C, NM_001384686.1:c.537T>C, NM_001384690.1:c.537T>C, NM_001384687.1:c.537T>C, NM_001384689.1:c.537T>C, XM_047437384.1:c.210T>C, NM_001384682.1:c.537T>C, NM_001384691.1:c.537T>C, NM_001384692.1:c.537T>C, NM_001384693.1:c.537T>C, NM_001384694.1:c.537T>C, XM_047437378.1:c.537T>C, NM_001384695.1:c.537T>C, NM_001384696.1:c.537T>C, NM_001384697.1:c.537T>C, XM_047437380.1:c.537T>C, XM_047437381.1:c.537T>C, XM_047437383.1:c.537T>C, XM_047437382.1:c.537T>C, XM_047437369.1:c.210T>C, XM_047437370.1:c.210T>C, XM_047437358.1:c.537T>C, XM_047437359.1:c.537T>C, XM_047437360.1:c.537T>C, XM_047437362.1:c.537T>C, XM_047437363.1:c.537T>C, XM_047437365.1:c.537T>C, XM_047437379.1:c.210T>C, XM_047437373.1:c.537T>C, XM_047437371.1:c.537T>C, XM_047437375.1:c.537T>C, XM_047437374.1:c.537T>C, XM_047437376.1:c.537T>C, XM_047437377.1:c.537T>C

          5.

          rs1483829491 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CCAAAG>- [Show Flanks]
            Chromosome:
            18:5397078 (GRCh38)
            18:5397077 (GRCh37)
            Canonical SPDI:
            NC_000018.10:5397077:CCAAAG:
            Gene:
            EPB41L3 (Varview)
            Functional Consequence:
            inframe_indel,coding_sequence_variant
            HGVS:
            NC_000018.10:g.5397078_5397083del, NC_000018.9:g.5397077_5397082del, NM_012307.5:c.2816_2821del, NM_012307.4:c.2816_2821del, NM_012307.3:c.2816_2821del, NM_001281534.3:c.2150_2155del, NM_001281534.2:c.2150_2155del, NM_001281534.1:c.2150_2155del, XM_017025620.3:c.2225_2230del, XM_017025620.2:c.2225_2230del, XM_017025620.1:c.2225_2230del, NM_001330557.2:c.2309_2314del, NM_001330557.1:c.2309_2314del, NM_001281535.2:c.1823_1828del, NM_001281535.1:c.1823_1828del, NM_001281533.2:c.2309_2314del, NM_001281533.1:c.2309_2314del, XM_017025619.2:c.2348_2353del, XM_017025619.1:c.2348_2353del, XM_017025626.2:c.2273_2278del, XM_017025626.1:c.2273_2278del, XM_017025631.2:c.2219_2224del, XM_017025631.1:c.2219_2224del, XM_047437372.1:c.2543_2548del, NM_001384685.1:c.2870_2875del, XM_047437361.1:c.2870_2875del, XM_047437364.1:c.2834_2839del, XM_047437366.1:c.2747_2752del, XM_047437367.1:c.2723_2728del, XM_047437368.1:c.2711_2716del, NM_001384698.1:c.1982_1987del, NM_001384699.1:c.1946_1951del, NM_001384700.1:c.1928_1933del, NM_001384701.1:c.1982_1987del, NM_001384702.1:c.1892_1897del, NM_001384703.1:c.1982_1987del, NM_001384704.1:c.1859_1864del, NM_001384684.1:c.2309_2314del, NM_001384705.1:c.1928_1933del, NM_001384683.1:c.1823_1828del, NM_001384706.1:c.1805_1810del, NM_001384688.1:c.2255_2260del, NM_001384686.1:c.2273_2278del, NM_001384690.1:c.2309_2314del, NM_001384687.1:c.2255_2260del, NM_001384689.1:c.2309_2314del, XM_047437384.1:c.1823_1828del, NM_001384682.1:c.2309_2314del, NM_001384691.1:c.2186_2191del, NM_001384692.1:c.2255_2260del, NM_001384693.1:c.2162_2167del, NM_001384694.1:c.2255_2260del, XM_047437378.1:c.2225_2230del, NM_001384695.1:c.2186_2191del, NM_001384696.1:c.2096_2101del, NM_001384697.1:c.2150_2155del, XM_047437380.1:c.2162_2167del, XM_047437381.1:c.2150_2155del, XM_047437383.1:c.2096_2101del, XM_047437382.1:c.2096_2101del, XM_047437369.1:c.2543_2548del, XM_047437370.1:c.2489_2494del, XM_047437358.1:c.2945_2950del, XM_047437359.1:c.2834_2839del, XM_047437360.1:c.2822_2827del, XM_047437362.1:c.2759_2764del, XM_047437363.1:c.2747_2752del, XM_047437365.1:c.2711_2716del, XM_047437379.1:c.2057_2062del, XM_047437373.1:c.2384_2389del, XM_047437371.1:c.2348_2353del, XM_047437375.1:c.2219_2224del, XM_047437374.1:c.2219_2224del, XM_047437376.1:c.2132_2137del, XM_047437377.1:c.2096_2101del, NP_036439.2:p.Thr939_Glu941delinsLys, NP_001268463.1:p.Thr717_Glu719delinsLys, XP_016881109.1:p.Thr742_Glu744delinsLys, NP_001317486.1:p.Thr770_Glu772delinsLys, NP_001268464.1:p.Thr608_Glu610delinsLys, NP_001268462.1:p.Thr770_Glu772delinsLys, XP_016881108.1:p.Thr783_Glu785delinsLys, XP_016881115.1:p.Thr758_Glu760delinsLys, XP_016881120.1:p.Thr740_Glu742delinsLys, XP_047293328.1:p.Thr848_Glu850delinsLys, NP_001371614.1:p.Thr957_Glu959delinsLys, XP_047293317.1:p.Thr957_Glu959delinsLys, XP_047293320.1:p.Thr945_Glu947delinsLys, XP_047293322.1:p.Thr916_Glu918delinsLys, XP_047293323.1:p.Thr908_Glu910delinsLys, XP_047293324.1:p.Thr904_Glu906delinsLys, NP_001371627.1:p.Thr661_Glu663delinsLys, NP_001371628.1:p.Thr649_Glu651delinsLys, NP_001371629.1:p.Thr643_Glu645delinsLys, NP_001371630.1:p.Thr661_Glu663delinsLys, NP_001371631.1:p.Thr631_Glu633delinsLys, NP_001371632.1:p.Thr661_Glu663delinsLys, NP_001371633.1:p.Thr620_Glu622delinsLys, NP_001371613.1:p.Thr770_Glu772delinsLys, NP_001371634.1:p.Thr643_Glu645delinsLys, NP_001371612.1:p.Thr608_Glu610delinsLys, NP_001371635.1:p.Thr602_Glu604delinsLys, NP_001371617.1:p.Thr752_Glu754delinsLys, NP_001371615.1:p.Thr758_Glu760delinsLys, NP_001371619.1:p.Thr770_Glu772delinsLys, NP_001371616.1:p.Thr752_Glu754delinsLys, NP_001371618.1:p.Thr770_Glu772delinsLys, XP_047293340.1:p.Thr608_Glu610delinsLys, NP_001371611.1:p.Thr770_Glu772delinsLys, NP_001371620.1:p.Thr729_Glu731delinsLys, NP_001371621.1:p.Thr752_Glu754delinsLys, NP_001371622.1:p.Thr721_Glu723delinsLys, NP_001371623.1:p.Thr752_Glu754delinsLys, XP_047293334.1:p.Thr742_Glu744delinsLys, NP_001371624.1:p.Thr729_Glu731delinsLys, NP_001371625.1:p.Thr699_Glu701delinsLys, NP_001371626.1:p.Thr717_Glu719delinsLys, XP_047293336.1:p.Thr721_Glu723delinsLys, XP_047293337.1:p.Thr717_Glu719delinsLys, XP_047293339.1:p.Thr699_Glu701delinsLys, XP_047293338.1:p.Thr699_Glu701delinsLys, XP_047293325.1:p.Thr848_Glu850delinsLys, XP_047293326.1:p.Thr830_Glu832delinsLys, XP_047293314.1:p.Thr982_Glu984delinsLys, XP_047293315.1:p.Thr945_Glu947delinsLys, XP_047293316.1:p.Thr941_Glu943delinsLys, XP_047293318.1:p.Thr920_Glu922delinsLys, XP_047293319.1:p.Thr916_Glu918delinsLys, XP_047293321.1:p.Thr904_Glu906delinsLys, XP_047293335.1:p.Thr686_Glu688delinsLys, XP_047293329.1:p.Thr795_Glu797delinsLys, XP_047293327.1:p.Thr783_Glu785delinsLys, XP_047293331.1:p.Thr740_Glu742delinsLys, XP_047293330.1:p.Thr740_Glu742delinsLys, XP_047293332.1:p.Thr711_Glu713delinsLys, XP_047293333.1:p.Thr699_Glu701delinsLys

            6.

            rs1483673303 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              18:5419840 (GRCh38)
              18:5419839 (GRCh37)
              Canonical SPDI:
              NC_000018.10:5419839:G:C
              Gene:
              EPB41L3 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000018.10:g.5419840G>C, NC_000018.9:g.5419839G>C, NM_012307.5:c.1377C>G, NM_012307.4:c.1377C>G, NM_012307.3:c.1377C>G, NM_001281534.3:c.1431C>G, NM_001281534.2:c.1431C>G, NM_001281534.1:c.1431C>G, XM_017025620.3:c.1431C>G, XM_017025620.2:c.1431C>G, XM_017025620.1:c.1431C>G, NM_001330557.2:c.1431C>G, NM_001330557.1:c.1431C>G, NM_001281535.2:c.1104C>G, NM_001281535.1:c.1104C>G, NM_001281533.2:c.1431C>G, NM_001281533.1:c.1431C>G, XM_017025619.2:c.1431C>G, XM_017025619.1:c.1431C>G, XM_017025626.2:c.1431C>G, XM_017025626.1:c.1431C>G, XM_017025631.2:c.1431C>G, XM_017025631.1:c.1431C>G, XM_047437372.1:c.1104C>G, NM_001384685.1:c.1431C>G, XM_047437361.1:c.1431C>G, XM_047437364.1:c.1431C>G, XM_047437366.1:c.1431C>G, XM_047437367.1:c.1431C>G, XM_047437368.1:c.1431C>G, NM_001384698.1:c.1104C>G, NM_001384699.1:c.1104C>G, NM_001384700.1:c.1050C>G, NM_001384701.1:c.1104C>G, NM_001384702.1:c.1050C>G, NM_001384703.1:c.1104C>G, NM_001384704.1:c.1104C>G, NM_001384684.1:c.1431C>G, NM_001384705.1:c.1050C>G, NM_001384683.1:c.1104C>G, NM_001384706.1:c.1050C>G, NM_001384688.1:c.1377C>G, NM_001384686.1:c.1431C>G, NM_001384690.1:c.1431C>G, NM_001384687.1:c.1377C>G, NM_001384689.1:c.1431C>G, XM_047437384.1:c.1104C>G, NM_001384682.1:c.1431C>G, NM_001384691.1:c.1431C>G, NM_001384692.1:c.1377C>G, NM_001384693.1:c.1431C>G, NM_001384694.1:c.1377C>G, XM_047437378.1:c.1431C>G, NM_001384695.1:c.1431C>G, NM_001384696.1:c.1377C>G, NM_001384697.1:c.1431C>G, XM_047437380.1:c.1431C>G, XM_047437381.1:c.1431C>G, XM_047437383.1:c.1431C>G, XM_047437382.1:c.1377C>G, XM_047437369.1:c.1104C>G, XM_047437370.1:c.1050C>G, XM_047437358.1:c.1431C>G, XM_047437359.1:c.1431C>G, XM_047437360.1:c.1431C>G, XM_047437362.1:c.1431C>G, XM_047437363.1:c.1431C>G, XM_047437365.1:c.1431C>G, XM_047437379.1:c.1104C>G, XM_047437373.1:c.1431C>G, XM_047437371.1:c.1431C>G, XM_047437375.1:c.1431C>G, XM_047437374.1:c.1377C>G, XM_047437376.1:c.1377C>G, XM_047437377.1:c.1431C>G, NP_036439.2:p.Ile459Met, NP_001268463.1:p.Ile477Met, XP_016881109.1:p.Ile477Met, NP_001317486.1:p.Ile477Met, NP_001268464.1:p.Ile368Met, NP_001268462.1:p.Ile477Met, XP_016881108.1:p.Ile477Met, XP_016881115.1:p.Ile477Met, XP_016881120.1:p.Ile477Met, XP_047293328.1:p.Ile368Met, NP_001371614.1:p.Ile477Met, XP_047293317.1:p.Ile477Met, XP_047293320.1:p.Ile477Met, XP_047293322.1:p.Ile477Met, XP_047293323.1:p.Ile477Met, XP_047293324.1:p.Ile477Met, NP_001371627.1:p.Ile368Met, NP_001371628.1:p.Ile368Met, NP_001371629.1:p.Ile350Met, NP_001371630.1:p.Ile368Met, NP_001371631.1:p.Ile350Met, NP_001371632.1:p.Ile368Met, NP_001371633.1:p.Ile368Met, NP_001371613.1:p.Ile477Met, NP_001371634.1:p.Ile350Met, NP_001371612.1:p.Ile368Met, NP_001371635.1:p.Ile350Met, NP_001371617.1:p.Ile459Met, NP_001371615.1:p.Ile477Met, NP_001371619.1:p.Ile477Met, NP_001371616.1:p.Ile459Met, NP_001371618.1:p.Ile477Met, XP_047293340.1:p.Ile368Met, NP_001371611.1:p.Ile477Met, NP_001371620.1:p.Ile477Met, NP_001371621.1:p.Ile459Met, NP_001371622.1:p.Ile477Met, NP_001371623.1:p.Ile459Met, XP_047293334.1:p.Ile477Met, NP_001371624.1:p.Ile477Met, NP_001371625.1:p.Ile459Met, NP_001371626.1:p.Ile477Met, XP_047293336.1:p.Ile477Met, XP_047293337.1:p.Ile477Met, XP_047293339.1:p.Ile477Met, XP_047293338.1:p.Ile459Met, XP_047293325.1:p.Ile368Met, XP_047293326.1:p.Ile350Met, XP_047293314.1:p.Ile477Met, XP_047293315.1:p.Ile477Met, XP_047293316.1:p.Ile477Met, XP_047293318.1:p.Ile477Met, XP_047293319.1:p.Ile477Met, XP_047293321.1:p.Ile477Met, XP_047293335.1:p.Ile368Met, XP_047293329.1:p.Ile477Met, XP_047293327.1:p.Ile477Met, XP_047293331.1:p.Ile477Met, XP_047293330.1:p.Ile459Met, XP_047293332.1:p.Ile459Met, XP_047293333.1:p.Ile477Met

              7.

              rs1479592447 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                18:5478286 (GRCh38)
                18:5478285 (GRCh37)
                Canonical SPDI:
                NC_000018.10:5478285:G:A
                Gene:
                EPB41L3 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                A=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000018.10:g.5478286G>A, NC_000018.9:g.5478285G>A, NM_012307.5:c.336C>T, NM_012307.4:c.336C>T, NM_012307.3:c.336C>T, NM_001281534.3:c.336C>T, NM_001281534.2:c.336C>T, NM_001281534.1:c.336C>T, XM_017025620.3:c.336C>T, XM_017025620.2:c.336C>T, XM_017025620.1:c.336C>T, NM_001330557.2:c.336C>T, NM_001330557.1:c.336C>T, NM_001281535.2:c.9C>T, NM_001281535.1:c.9C>T, NM_001281533.2:c.336C>T, NM_001281533.1:c.336C>T, XM_017025619.2:c.336C>T, XM_017025619.1:c.336C>T, XM_017025626.2:c.336C>T, XM_017025626.1:c.336C>T, XM_017025631.2:c.336C>T, XM_017025631.1:c.336C>T, XM_047437372.1:c.9C>T, NM_001384685.1:c.336C>T, XM_047437361.1:c.336C>T, XM_047437364.1:c.336C>T, XM_047437366.1:c.336C>T, XM_047437367.1:c.336C>T, XM_047437368.1:c.336C>T, NM_001384698.1:c.9C>T, NM_001384699.1:c.9C>T, NM_001384700.1:c.9C>T, NM_001384701.1:c.9C>T, NM_001384702.1:c.9C>T, NM_001384703.1:c.9C>T, NM_001384704.1:c.9C>T, NM_001384684.1:c.336C>T, NM_001384705.1:c.9C>T, NM_001384683.1:c.9C>T, NM_001384706.1:c.9C>T, NM_001384688.1:c.336C>T, NM_001384686.1:c.336C>T, NM_001384690.1:c.336C>T, NM_001384687.1:c.336C>T, NM_001384689.1:c.336C>T, XM_047437384.1:c.9C>T, NM_001384682.1:c.336C>T, NM_001384691.1:c.336C>T, NM_001384692.1:c.336C>T, NM_001384693.1:c.336C>T, NM_001384694.1:c.336C>T, XM_047437378.1:c.336C>T, NM_001384695.1:c.336C>T, NM_001384696.1:c.336C>T, NM_001384697.1:c.336C>T, XM_047437380.1:c.336C>T, XM_047437381.1:c.336C>T, XM_047437383.1:c.336C>T, XM_047437382.1:c.336C>T, XM_047437369.1:c.9C>T, XM_047437370.1:c.9C>T, XM_047437358.1:c.336C>T, XM_047437359.1:c.336C>T, XM_047437360.1:c.336C>T, XM_047437362.1:c.336C>T, XM_047437363.1:c.336C>T, XM_047437365.1:c.336C>T, XM_047437379.1:c.9C>T, XM_047437373.1:c.336C>T, XM_047437371.1:c.336C>T, XM_047437375.1:c.336C>T, XM_047437374.1:c.336C>T, XM_047437376.1:c.336C>T, XM_047437377.1:c.336C>T

                8.

                rs1479413456 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  18:5393478 (GRCh38)
                  18:5393477 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:5393477:C:G,NC_000018.10:5393477:C:T
                  Gene:
                  EPB41L3 (Varview)
                  Functional Consequence:
                  missense_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000018.10:g.5393478C>G, NC_000018.10:g.5393478C>T, NC_000018.9:g.5393477C>G, NC_000018.9:g.5393477C>T, NM_012307.5:c.*7G>C, NM_012307.5:c.*7G>A, NM_012307.4:c.*7G>C, NM_012307.4:c.*7G>A, NM_012307.3:c.*7G>C, NM_012307.3:c.*7G>A, NM_001281534.3:c.*7G>C, NM_001281534.3:c.*7G>A, NM_001281534.2:c.*7G>C, NM_001281534.2:c.*7G>A, NM_001281534.1:c.*7G>C, NM_001281534.1:c.*7G>A, NM_001330557.2:c.*7G>C, NM_001330557.2:c.*7G>A, NM_001330557.1:c.*7G>C, NM_001330557.1:c.*7G>A, NM_001281535.2:c.*7G>C, NM_001281535.2:c.*7G>A, NM_001281535.1:c.*7G>C, NM_001281535.1:c.*7G>A, NM_001281533.2:c.2647G>C, NM_001281533.2:c.2647G>A, NM_001281533.1:c.2647G>C, NM_001281533.1:c.2647G>A, XM_017025619.2:c.2686G>C, XM_017025619.2:c.2686G>A, XM_017025619.1:c.2686G>C, XM_017025619.1:c.2686G>A, XM_017025626.2:c.2611G>C, XM_017025626.2:c.2611G>A, XM_017025626.1:c.2611G>C, XM_017025626.1:c.2611G>A, XM_017025631.2:c.2557G>C, XM_017025631.2:c.2557G>A, XM_017025631.1:c.2557G>C, XM_017025631.1:c.2557G>A, XM_047437372.1:c.2881G>C, XM_047437372.1:c.2881G>A, NM_001384685.1:c.*7G>C, NM_001384685.1:c.*7G>A, XM_047437361.1:c.3208G>C, XM_047437361.1:c.3208G>A, XM_047437364.1:c.3172G>C, XM_047437364.1:c.3172G>A, XM_047437366.1:c.3085G>C, XM_047437366.1:c.3085G>A, XM_047437367.1:c.3061G>C, XM_047437367.1:c.3061G>A, XM_047437368.1:c.3049G>C, XM_047437368.1:c.3049G>A, NM_001384698.1:c.*7G>C, NM_001384698.1:c.*7G>A, NM_001384699.1:c.*7G>C, NM_001384699.1:c.*7G>A, NM_001384700.1:c.*7G>C, NM_001384700.1:c.*7G>A, NM_001384701.1:c.*7G>C, NM_001384701.1:c.*7G>A, NM_001384702.1:c.*7G>C, NM_001384702.1:c.*7G>A, NM_001384703.1:c.2320G>C, NM_001384703.1:c.2320G>A, NM_001384704.1:c.*7G>C, NM_001384704.1:c.*7G>A, NM_001384684.1:c.*7G>C, NM_001384684.1:c.*7G>A, NM_001384705.1:c.*7G>C, NM_001384705.1:c.*7G>A, NM_001384683.1:c.*7G>C, NM_001384683.1:c.*7G>A, NM_001384706.1:c.*7G>C, NM_001384706.1:c.*7G>A, NM_001384688.1:c.*7G>C, NM_001384688.1:c.*7G>A, NM_001384686.1:c.*7G>C, NM_001384686.1:c.*7G>A, NM_001384690.1:c.*7G>C, NM_001384690.1:c.*7G>A, NM_001384687.1:c.*7G>C, NM_001384687.1:c.*7G>A, NM_001384689.1:c.*7G>C, NM_001384689.1:c.*7G>A, XM_047437384.1:c.2161G>C, XM_047437384.1:c.2161G>A, NM_001384682.1:c.2647G>C, NM_001384682.1:c.2647G>A, NM_001384691.1:c.*7G>C, NM_001384691.1:c.*7G>A, NM_001384692.1:c.*7G>C, NM_001384692.1:c.*7G>A, NM_001384693.1:c.*7G>C, NM_001384693.1:c.*7G>A, NM_001384694.1:c.2593G>C, NM_001384694.1:c.2593G>A, XM_047437378.1:c.2563G>C, XM_047437378.1:c.2563G>A, NM_001384695.1:c.*7G>C, NM_001384695.1:c.*7G>A, NM_001384696.1:c.*7G>C, NM_001384696.1:c.*7G>A, NM_001384697.1:c.*7G>C, NM_001384697.1:c.*7G>A, XM_047437380.1:c.2500G>C, XM_047437380.1:c.2500G>A, XM_047437381.1:c.2488G>C, XM_047437381.1:c.2488G>A, XM_047437383.1:c.2434G>C, XM_047437383.1:c.2434G>A, XM_047437382.1:c.2434G>C, XM_047437382.1:c.2434G>A, NP_001268462.1:p.Glu883Gln, NP_001268462.1:p.Glu883Lys, XP_016881108.1:p.Glu896Gln, XP_016881108.1:p.Glu896Lys, XP_016881115.1:p.Glu871Gln, XP_016881115.1:p.Glu871Lys, XP_016881120.1:p.Glu853Gln, XP_016881120.1:p.Glu853Lys, XP_047293328.1:p.Glu961Gln, XP_047293328.1:p.Glu961Lys, XP_047293317.1:p.Glu1070Gln, XP_047293317.1:p.Glu1070Lys, XP_047293320.1:p.Glu1058Gln, XP_047293320.1:p.Glu1058Lys, XP_047293322.1:p.Glu1029Gln, XP_047293322.1:p.Glu1029Lys, XP_047293323.1:p.Glu1021Gln, XP_047293323.1:p.Glu1021Lys, XP_047293324.1:p.Glu1017Gln, XP_047293324.1:p.Glu1017Lys, NP_001371632.1:p.Glu774Gln, NP_001371632.1:p.Glu774Lys, XP_047293340.1:p.Glu721Gln, XP_047293340.1:p.Glu721Lys, NP_001371611.1:p.Glu883Gln, NP_001371611.1:p.Glu883Lys, NP_001371623.1:p.Glu865Gln, NP_001371623.1:p.Glu865Lys, XP_047293334.1:p.Glu855Gln, XP_047293334.1:p.Glu855Lys, XP_047293336.1:p.Glu834Gln, XP_047293336.1:p.Glu834Lys, XP_047293337.1:p.Glu830Gln, XP_047293337.1:p.Glu830Lys, XP_047293339.1:p.Glu812Gln, XP_047293339.1:p.Glu812Lys, XP_047293338.1:p.Glu812Gln, XP_047293338.1:p.Glu812Lys

                  9.

                  rs1478683218 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    18:5434090 (GRCh38)
                    18:5434089 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:5434089:T:C
                    Gene:
                    EPB41L3 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000018.10:g.5434090T>C, NC_000018.9:g.5434089T>C, NM_012307.5:c.637A>G, NM_012307.4:c.637A>G, NM_012307.3:c.637A>G, NM_001281534.3:c.637A>G, NM_001281534.2:c.637A>G, NM_001281534.1:c.637A>G, XM_017025620.3:c.637A>G, XM_017025620.2:c.637A>G, XM_017025620.1:c.637A>G, NM_001330557.2:c.637A>G, NM_001330557.1:c.637A>G, NM_001281535.2:c.310A>G, NM_001281535.1:c.310A>G, NM_001281533.2:c.637A>G, NM_001281533.1:c.637A>G, XM_017025619.2:c.637A>G, XM_017025619.1:c.637A>G, XM_017025626.2:c.637A>G, XM_017025626.1:c.637A>G, XM_017025631.2:c.637A>G, XM_017025631.1:c.637A>G, XM_047437372.1:c.310A>G, NM_001384685.1:c.637A>G, XM_047437361.1:c.637A>G, XM_047437364.1:c.637A>G, XM_047437366.1:c.637A>G, XM_047437367.1:c.637A>G, XM_047437368.1:c.637A>G, NM_001384698.1:c.310A>G, NM_001384699.1:c.310A>G, NM_001384700.1:c.310A>G, NM_001384701.1:c.310A>G, NM_001384702.1:c.310A>G, NM_001384703.1:c.310A>G, NM_001384704.1:c.310A>G, NM_001384684.1:c.637A>G, NM_001384705.1:c.310A>G, NM_001384683.1:c.310A>G, NM_001384706.1:c.310A>G, NM_001384688.1:c.637A>G, NM_001384686.1:c.637A>G, NM_001384690.1:c.637A>G, NM_001384687.1:c.637A>G, NM_001384689.1:c.637A>G, XM_047437384.1:c.310A>G, NM_001384682.1:c.637A>G, NM_001384691.1:c.637A>G, NM_001384692.1:c.637A>G, NM_001384693.1:c.637A>G, NM_001384694.1:c.637A>G, XM_047437378.1:c.637A>G, NM_001384695.1:c.637A>G, NM_001384696.1:c.637A>G, NM_001384697.1:c.637A>G, XM_047437380.1:c.637A>G, XM_047437381.1:c.637A>G, XM_047437383.1:c.637A>G, XM_047437382.1:c.637A>G, XM_047437369.1:c.310A>G, XM_047437370.1:c.310A>G, XM_047437358.1:c.637A>G, XM_047437359.1:c.637A>G, XM_047437360.1:c.637A>G, XM_047437362.1:c.637A>G, XM_047437363.1:c.637A>G, XM_047437365.1:c.637A>G, XM_047437379.1:c.310A>G, XM_047437373.1:c.637A>G, XM_047437371.1:c.637A>G, XM_047437375.1:c.637A>G, XM_047437374.1:c.637A>G, XM_047437376.1:c.637A>G, XM_047437377.1:c.637A>G, NP_036439.2:p.Ile213Val, NP_001268463.1:p.Ile213Val, XP_016881109.1:p.Ile213Val, NP_001317486.1:p.Ile213Val, NP_001268464.1:p.Ile104Val, NP_001268462.1:p.Ile213Val, XP_016881108.1:p.Ile213Val, XP_016881115.1:p.Ile213Val, XP_016881120.1:p.Ile213Val, XP_047293328.1:p.Ile104Val, NP_001371614.1:p.Ile213Val, XP_047293317.1:p.Ile213Val, XP_047293320.1:p.Ile213Val, XP_047293322.1:p.Ile213Val, XP_047293323.1:p.Ile213Val, XP_047293324.1:p.Ile213Val, NP_001371627.1:p.Ile104Val, NP_001371628.1:p.Ile104Val, NP_001371629.1:p.Ile104Val, NP_001371630.1:p.Ile104Val, NP_001371631.1:p.Ile104Val, NP_001371632.1:p.Ile104Val, NP_001371633.1:p.Ile104Val, NP_001371613.1:p.Ile213Val, NP_001371634.1:p.Ile104Val, NP_001371612.1:p.Ile104Val, NP_001371635.1:p.Ile104Val, NP_001371617.1:p.Ile213Val, NP_001371615.1:p.Ile213Val, NP_001371619.1:p.Ile213Val, NP_001371616.1:p.Ile213Val, NP_001371618.1:p.Ile213Val, XP_047293340.1:p.Ile104Val, NP_001371611.1:p.Ile213Val, NP_001371620.1:p.Ile213Val, NP_001371621.1:p.Ile213Val, NP_001371622.1:p.Ile213Val, NP_001371623.1:p.Ile213Val, XP_047293334.1:p.Ile213Val, NP_001371624.1:p.Ile213Val, NP_001371625.1:p.Ile213Val, NP_001371626.1:p.Ile213Val, XP_047293336.1:p.Ile213Val, XP_047293337.1:p.Ile213Val, XP_047293339.1:p.Ile213Val, XP_047293338.1:p.Ile213Val, XP_047293325.1:p.Ile104Val, XP_047293326.1:p.Ile104Val, XP_047293314.1:p.Ile213Val, XP_047293315.1:p.Ile213Val, XP_047293316.1:p.Ile213Val, XP_047293318.1:p.Ile213Val, XP_047293319.1:p.Ile213Val, XP_047293321.1:p.Ile213Val, XP_047293335.1:p.Ile104Val, XP_047293329.1:p.Ile213Val, XP_047293327.1:p.Ile213Val, XP_047293331.1:p.Ile213Val, XP_047293330.1:p.Ile213Val, XP_047293332.1:p.Ile213Val, XP_047293333.1:p.Ile213Val

                    10.

                    rs1476609699 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      18:5419910 (GRCh38)
                      18:5419909 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:5419909:T:C
                      Gene:
                      EPB41L3 (Varview)
                      Functional Consequence:
                      missense_variant,intron_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      C=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000018.10:g.5419910T>C, NC_000018.9:g.5419909T>C, NM_001281534.3:c.1361A>G, NM_001281534.2:c.1361A>G, NM_001281534.1:c.1361A>G, XM_017025620.3:c.1361A>G, XM_017025620.2:c.1361A>G, XM_017025620.1:c.1361A>G, NM_001330557.2:c.1361A>G, NM_001330557.1:c.1361A>G, NM_001281535.2:c.1034A>G, NM_001281535.1:c.1034A>G, NM_001281533.2:c.1361A>G, NM_001281533.1:c.1361A>G, XM_017025619.2:c.1361A>G, XM_017025619.1:c.1361A>G, XM_017025626.2:c.1361A>G, XM_017025626.1:c.1361A>G, XM_017025631.2:c.1361A>G, XM_017025631.1:c.1361A>G, XM_047437372.1:c.1034A>G, NM_001384685.1:c.1361A>G, XM_047437361.1:c.1361A>G, XM_047437364.1:c.1361A>G, XM_047437366.1:c.1361A>G, XM_047437367.1:c.1361A>G, XM_047437368.1:c.1361A>G, NM_001384698.1:c.1034A>G, NM_001384699.1:c.1034A>G, NM_001384701.1:c.1034A>G, NM_001384703.1:c.1034A>G, NM_001384704.1:c.1034A>G, NM_001384684.1:c.1361A>G, NM_001384683.1:c.1034A>G, NM_001384686.1:c.1361A>G, NM_001384690.1:c.1361A>G, NM_001384689.1:c.1361A>G, XM_047437384.1:c.1034A>G, NM_001384682.1:c.1361A>G, NM_001384691.1:c.1361A>G, NM_001384693.1:c.1361A>G, XM_047437378.1:c.1361A>G, NM_001384695.1:c.1361A>G, NM_001384697.1:c.1361A>G, XM_047437380.1:c.1361A>G, XM_047437381.1:c.1361A>G, XM_047437383.1:c.1361A>G, XM_047437369.1:c.1034A>G, XM_047437358.1:c.1361A>G, XM_047437359.1:c.1361A>G, XM_047437360.1:c.1361A>G, XM_047437362.1:c.1361A>G, XM_047437363.1:c.1361A>G, XM_047437365.1:c.1361A>G, XM_047437379.1:c.1034A>G, XM_047437373.1:c.1361A>G, XM_047437371.1:c.1361A>G, XM_047437375.1:c.1361A>G, XM_047437377.1:c.1361A>G, NP_001268463.1:p.Glu454Gly, XP_016881109.1:p.Glu454Gly, NP_001317486.1:p.Glu454Gly, NP_001268464.1:p.Glu345Gly, NP_001268462.1:p.Glu454Gly, XP_016881108.1:p.Glu454Gly, XP_016881115.1:p.Glu454Gly, XP_016881120.1:p.Glu454Gly, XP_047293328.1:p.Glu345Gly, NP_001371614.1:p.Glu454Gly, XP_047293317.1:p.Glu454Gly, XP_047293320.1:p.Glu454Gly, XP_047293322.1:p.Glu454Gly, XP_047293323.1:p.Glu454Gly, XP_047293324.1:p.Glu454Gly, NP_001371627.1:p.Glu345Gly, NP_001371628.1:p.Glu345Gly, NP_001371630.1:p.Glu345Gly, NP_001371632.1:p.Glu345Gly, NP_001371633.1:p.Glu345Gly, NP_001371613.1:p.Glu454Gly, NP_001371612.1:p.Glu345Gly, NP_001371615.1:p.Glu454Gly, NP_001371619.1:p.Glu454Gly, NP_001371618.1:p.Glu454Gly, XP_047293340.1:p.Glu345Gly, NP_001371611.1:p.Glu454Gly, NP_001371620.1:p.Glu454Gly, NP_001371622.1:p.Glu454Gly, XP_047293334.1:p.Glu454Gly, NP_001371624.1:p.Glu454Gly, NP_001371626.1:p.Glu454Gly, XP_047293336.1:p.Glu454Gly, XP_047293337.1:p.Glu454Gly, XP_047293339.1:p.Glu454Gly, XP_047293325.1:p.Glu345Gly, XP_047293314.1:p.Glu454Gly, XP_047293315.1:p.Glu454Gly, XP_047293316.1:p.Glu454Gly, XP_047293318.1:p.Glu454Gly, XP_047293319.1:p.Glu454Gly, XP_047293321.1:p.Glu454Gly, XP_047293335.1:p.Glu345Gly, XP_047293329.1:p.Glu454Gly, XP_047293327.1:p.Glu454Gly, XP_047293331.1:p.Glu454Gly, XP_047293333.1:p.Glu454Gly

                      11.

                      rs1474424767 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->T [Show Flanks]
                        Chromosome:
                        18:5443847 (GRCh38)
                        18:5443847 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:5443847:TTTTTTT:TTTTTTTT
                        Gene:
                        EPB41L3 (Varview)
                        Functional Consequence:
                        frameshift_variant,coding_sequence_variant
                        HGVS:
                        NC_000018.10:g.5443854dup, NC_000018.9:g.5443853dup, NM_012307.5:c.519dup, NM_012307.4:c.519dup, NM_012307.3:c.519dup, NM_001281534.3:c.519dup, NM_001281534.2:c.519dup, NM_001281534.1:c.519dup, XM_017025620.3:c.519dup, XM_017025620.2:c.519dup, XM_017025620.1:c.519dup, NM_001330557.2:c.519dup, NM_001330557.1:c.519dup, NM_001281535.2:c.192dup, NM_001281535.1:c.192dup, NM_001281533.2:c.519dup, NM_001281533.1:c.519dup, XM_017025619.2:c.519dup, XM_017025619.1:c.519dup, XM_017025626.2:c.519dup, XM_017025626.1:c.519dup, XM_017025631.2:c.519dup, XM_017025631.1:c.519dup, XM_047437372.1:c.192dup, NM_001384685.1:c.519dup, XM_047437361.1:c.519dup, XM_047437364.1:c.519dup, XM_047437366.1:c.519dup, XM_047437367.1:c.519dup, XM_047437368.1:c.519dup, NM_001384698.1:c.192dup, NM_001384699.1:c.192dup, NM_001384700.1:c.192dup, NM_001384701.1:c.192dup, NM_001384702.1:c.192dup, NM_001384703.1:c.192dup, NM_001384704.1:c.192dup, NM_001384684.1:c.519dup, NM_001384705.1:c.192dup, NM_001384683.1:c.192dup, NM_001384706.1:c.192dup, NM_001384688.1:c.519dup, NM_001384686.1:c.519dup, NM_001384690.1:c.519dup, NM_001384687.1:c.519dup, NM_001384689.1:c.519dup, XM_047437384.1:c.192dup, NM_001384682.1:c.519dup, NM_001384691.1:c.519dup, NM_001384692.1:c.519dup, NM_001384693.1:c.519dup, NM_001384694.1:c.519dup, XM_047437378.1:c.519dup, NM_001384695.1:c.519dup, NM_001384696.1:c.519dup, NM_001384697.1:c.519dup, XM_047437380.1:c.519dup, XM_047437381.1:c.519dup, XM_047437383.1:c.519dup, XM_047437382.1:c.519dup, XM_047437369.1:c.192dup, XM_047437370.1:c.192dup, XM_047437358.1:c.519dup, XM_047437359.1:c.519dup, XM_047437360.1:c.519dup, XM_047437362.1:c.519dup, XM_047437363.1:c.519dup, XM_047437365.1:c.519dup, XM_047437379.1:c.192dup, XM_047437373.1:c.519dup, XM_047437371.1:c.519dup, XM_047437375.1:c.519dup, XM_047437374.1:c.519dup, XM_047437376.1:c.519dup, XM_047437377.1:c.519dup, NP_036439.2:p.Gln174fs, NP_001268463.1:p.Gln174fs, XP_016881109.1:p.Gln174fs, NP_001317486.1:p.Gln174fs, NP_001268464.1:p.Gln65fs, NP_001268462.1:p.Gln174fs, XP_016881108.1:p.Gln174fs, XP_016881115.1:p.Gln174fs, XP_016881120.1:p.Gln174fs, XP_047293328.1:p.Gln65fs, NP_001371614.1:p.Gln174fs, XP_047293317.1:p.Gln174fs, XP_047293320.1:p.Gln174fs, XP_047293322.1:p.Gln174fs, XP_047293323.1:p.Gln174fs, XP_047293324.1:p.Gln174fs, NP_001371627.1:p.Gln65fs, NP_001371628.1:p.Gln65fs, NP_001371629.1:p.Gln65fs, NP_001371630.1:p.Gln65fs, NP_001371631.1:p.Gln65fs, NP_001371632.1:p.Gln65fs, NP_001371633.1:p.Gln65fs, NP_001371613.1:p.Gln174fs, NP_001371634.1:p.Gln65fs, NP_001371612.1:p.Gln65fs, NP_001371635.1:p.Gln65fs, NP_001371617.1:p.Gln174fs, NP_001371615.1:p.Gln174fs, NP_001371619.1:p.Gln174fs, NP_001371616.1:p.Gln174fs, NP_001371618.1:p.Gln174fs, XP_047293340.1:p.Gln65fs, NP_001371611.1:p.Gln174fs, NP_001371620.1:p.Gln174fs, NP_001371621.1:p.Gln174fs, NP_001371622.1:p.Gln174fs, NP_001371623.1:p.Gln174fs, XP_047293334.1:p.Gln174fs, NP_001371624.1:p.Gln174fs, NP_001371625.1:p.Gln174fs, NP_001371626.1:p.Gln174fs, XP_047293336.1:p.Gln174fs, XP_047293337.1:p.Gln174fs, XP_047293339.1:p.Gln174fs, XP_047293338.1:p.Gln174fs, XP_047293325.1:p.Gln65fs, XP_047293326.1:p.Gln65fs, XP_047293314.1:p.Gln174fs, XP_047293315.1:p.Gln174fs, XP_047293316.1:p.Gln174fs, XP_047293318.1:p.Gln174fs, XP_047293319.1:p.Gln174fs, XP_047293321.1:p.Gln174fs, XP_047293335.1:p.Gln65fs, XP_047293329.1:p.Gln174fs, XP_047293327.1:p.Gln174fs, XP_047293331.1:p.Gln174fs, XP_047293330.1:p.Gln174fs, XP_047293332.1:p.Gln174fs, XP_047293333.1:p.Gln174fs

                        12.

                        rs1471068537 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          18:5397107 (GRCh38)
                          18:5397106 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:5397106:C:T
                          Gene:
                          EPB41L3 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000057/2 (ALFA)
                          T=0.000011/3 (TOPMED)
                          T=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000018.10:g.5397107C>T, NC_000018.9:g.5397106C>T, NM_012307.5:c.2792G>A, NM_012307.4:c.2792G>A, NM_012307.3:c.2792G>A, NM_001281534.3:c.2126G>A, NM_001281534.2:c.2126G>A, NM_001281534.1:c.2126G>A, XM_017025620.3:c.2201G>A, XM_017025620.2:c.2201G>A, XM_017025620.1:c.2201G>A, NM_001330557.2:c.2285G>A, NM_001330557.1:c.2285G>A, NM_001281535.2:c.1799G>A, NM_001281535.1:c.1799G>A, NM_001281533.2:c.2285G>A, NM_001281533.1:c.2285G>A, XM_017025619.2:c.2324G>A, XM_017025619.1:c.2324G>A, XM_017025626.2:c.2249G>A, XM_017025626.1:c.2249G>A, XM_017025631.2:c.2195G>A, XM_017025631.1:c.2195G>A, XM_047437372.1:c.2519G>A, NM_001384685.1:c.2846G>A, XM_047437361.1:c.2846G>A, XM_047437364.1:c.2810G>A, XM_047437366.1:c.2723G>A, XM_047437367.1:c.2699G>A, XM_047437368.1:c.2687G>A, NM_001384698.1:c.1958G>A, NM_001384699.1:c.1922G>A, NM_001384700.1:c.1904G>A, NM_001384701.1:c.1958G>A, NM_001384702.1:c.1868G>A, NM_001384703.1:c.1958G>A, NM_001384704.1:c.1835G>A, NM_001384684.1:c.2285G>A, NM_001384705.1:c.1904G>A, NM_001384683.1:c.1799G>A, NM_001384706.1:c.1781G>A, NM_001384688.1:c.2231G>A, NM_001384686.1:c.2249G>A, NM_001384690.1:c.2285G>A, NM_001384687.1:c.2231G>A, NM_001384689.1:c.2285G>A, XM_047437384.1:c.1799G>A, NM_001384682.1:c.2285G>A, NM_001384691.1:c.2162G>A, NM_001384692.1:c.2231G>A, NM_001384693.1:c.2138G>A, NM_001384694.1:c.2231G>A, XM_047437378.1:c.2201G>A, NM_001384695.1:c.2162G>A, NM_001384696.1:c.2072G>A, NM_001384697.1:c.2126G>A, XM_047437380.1:c.2138G>A, XM_047437381.1:c.2126G>A, XM_047437383.1:c.2072G>A, XM_047437382.1:c.2072G>A, XM_047437369.1:c.2519G>A, XM_047437370.1:c.2465G>A, XM_047437358.1:c.2921G>A, XM_047437359.1:c.2810G>A, XM_047437360.1:c.2798G>A, XM_047437362.1:c.2735G>A, XM_047437363.1:c.2723G>A, XM_047437365.1:c.2687G>A, XM_047437379.1:c.2033G>A, XM_047437373.1:c.2360G>A, XM_047437371.1:c.2324G>A, XM_047437375.1:c.2195G>A, XM_047437374.1:c.2195G>A, XM_047437376.1:c.2108G>A, XM_047437377.1:c.2072G>A, NP_036439.2:p.Ser931Asn, NP_001268463.1:p.Ser709Asn, XP_016881109.1:p.Ser734Asn, NP_001317486.1:p.Ser762Asn, NP_001268464.1:p.Ser600Asn, NP_001268462.1:p.Ser762Asn, XP_016881108.1:p.Ser775Asn, XP_016881115.1:p.Ser750Asn, XP_016881120.1:p.Ser732Asn, XP_047293328.1:p.Ser840Asn, NP_001371614.1:p.Ser949Asn, XP_047293317.1:p.Ser949Asn, XP_047293320.1:p.Ser937Asn, XP_047293322.1:p.Ser908Asn, XP_047293323.1:p.Ser900Asn, XP_047293324.1:p.Ser896Asn, NP_001371627.1:p.Ser653Asn, NP_001371628.1:p.Ser641Asn, NP_001371629.1:p.Ser635Asn, NP_001371630.1:p.Ser653Asn, NP_001371631.1:p.Ser623Asn, NP_001371632.1:p.Ser653Asn, NP_001371633.1:p.Ser612Asn, NP_001371613.1:p.Ser762Asn, NP_001371634.1:p.Ser635Asn, NP_001371612.1:p.Ser600Asn, NP_001371635.1:p.Ser594Asn, NP_001371617.1:p.Ser744Asn, NP_001371615.1:p.Ser750Asn, NP_001371619.1:p.Ser762Asn, NP_001371616.1:p.Ser744Asn, NP_001371618.1:p.Ser762Asn, XP_047293340.1:p.Ser600Asn, NP_001371611.1:p.Ser762Asn, NP_001371620.1:p.Ser721Asn, NP_001371621.1:p.Ser744Asn, NP_001371622.1:p.Ser713Asn, NP_001371623.1:p.Ser744Asn, XP_047293334.1:p.Ser734Asn, NP_001371624.1:p.Ser721Asn, NP_001371625.1:p.Ser691Asn, NP_001371626.1:p.Ser709Asn, XP_047293336.1:p.Ser713Asn, XP_047293337.1:p.Ser709Asn, XP_047293339.1:p.Ser691Asn, XP_047293338.1:p.Ser691Asn, XP_047293325.1:p.Ser840Asn, XP_047293326.1:p.Ser822Asn, XP_047293314.1:p.Ser974Asn, XP_047293315.1:p.Ser937Asn, XP_047293316.1:p.Ser933Asn, XP_047293318.1:p.Ser912Asn, XP_047293319.1:p.Ser908Asn, XP_047293321.1:p.Ser896Asn, XP_047293335.1:p.Ser678Asn, XP_047293329.1:p.Ser787Asn, XP_047293327.1:p.Ser775Asn, XP_047293331.1:p.Ser732Asn, XP_047293330.1:p.Ser732Asn, XP_047293332.1:p.Ser703Asn, XP_047293333.1:p.Ser691Asn

                          13.

                          rs1470262975 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            18:5397131 (GRCh38)
                            18:5397130 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:5397130:G:A
                            Gene:
                            EPB41L3 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000008/2 (TOPMED)
                            A=0.000106/2 (TOMMO)
                            HGVS:
                            NC_000018.10:g.5397131G>A, NC_000018.9:g.5397130G>A, NM_012307.5:c.2768C>T, NM_012307.4:c.2768C>T, NM_012307.3:c.2768C>T, NM_001281534.3:c.2102C>T, NM_001281534.2:c.2102C>T, NM_001281534.1:c.2102C>T, XM_017025620.3:c.2177C>T, XM_017025620.2:c.2177C>T, XM_017025620.1:c.2177C>T, NM_001330557.2:c.2261C>T, NM_001330557.1:c.2261C>T, NM_001281535.2:c.1775C>T, NM_001281535.1:c.1775C>T, NM_001281533.2:c.2261C>T, NM_001281533.1:c.2261C>T, XM_017025619.2:c.2300C>T, XM_017025619.1:c.2300C>T, XM_017025626.2:c.2225C>T, XM_017025626.1:c.2225C>T, XM_017025631.2:c.2171C>T, XM_017025631.1:c.2171C>T, XM_047437372.1:c.2495C>T, NM_001384685.1:c.2822C>T, XM_047437361.1:c.2822C>T, XM_047437364.1:c.2786C>T, XM_047437366.1:c.2699C>T, XM_047437367.1:c.2675C>T, XM_047437368.1:c.2663C>T, NM_001384698.1:c.1934C>T, NM_001384699.1:c.1898C>T, NM_001384700.1:c.1880C>T, NM_001384701.1:c.1934C>T, NM_001384702.1:c.1844C>T, NM_001384703.1:c.1934C>T, NM_001384704.1:c.1811C>T, NM_001384684.1:c.2261C>T, NM_001384705.1:c.1880C>T, NM_001384683.1:c.1775C>T, NM_001384706.1:c.1757C>T, NM_001384688.1:c.2207C>T, NM_001384686.1:c.2225C>T, NM_001384690.1:c.2261C>T, NM_001384687.1:c.2207C>T, NM_001384689.1:c.2261C>T, XM_047437384.1:c.1775C>T, NM_001384682.1:c.2261C>T, NM_001384691.1:c.2138C>T, NM_001384692.1:c.2207C>T, NM_001384693.1:c.2114C>T, NM_001384694.1:c.2207C>T, XM_047437378.1:c.2177C>T, NM_001384695.1:c.2138C>T, NM_001384696.1:c.2048C>T, NM_001384697.1:c.2102C>T, XM_047437380.1:c.2114C>T, XM_047437381.1:c.2102C>T, XM_047437383.1:c.2048C>T, XM_047437382.1:c.2048C>T, XM_047437369.1:c.2495C>T, XM_047437370.1:c.2441C>T, XM_047437358.1:c.2897C>T, XM_047437359.1:c.2786C>T, XM_047437360.1:c.2774C>T, XM_047437362.1:c.2711C>T, XM_047437363.1:c.2699C>T, XM_047437365.1:c.2663C>T, XM_047437379.1:c.2009C>T, XM_047437373.1:c.2336C>T, XM_047437371.1:c.2300C>T, XM_047437375.1:c.2171C>T, XM_047437374.1:c.2171C>T, XM_047437376.1:c.2084C>T, XM_047437377.1:c.2048C>T, NP_036439.2:p.Ser923Phe, NP_001268463.1:p.Ser701Phe, XP_016881109.1:p.Ser726Phe, NP_001317486.1:p.Ser754Phe, NP_001268464.1:p.Ser592Phe, NP_001268462.1:p.Ser754Phe, XP_016881108.1:p.Ser767Phe, XP_016881115.1:p.Ser742Phe, XP_016881120.1:p.Ser724Phe, XP_047293328.1:p.Ser832Phe, NP_001371614.1:p.Ser941Phe, XP_047293317.1:p.Ser941Phe, XP_047293320.1:p.Ser929Phe, XP_047293322.1:p.Ser900Phe, XP_047293323.1:p.Ser892Phe, XP_047293324.1:p.Ser888Phe, NP_001371627.1:p.Ser645Phe, NP_001371628.1:p.Ser633Phe, NP_001371629.1:p.Ser627Phe, NP_001371630.1:p.Ser645Phe, NP_001371631.1:p.Ser615Phe, NP_001371632.1:p.Ser645Phe, NP_001371633.1:p.Ser604Phe, NP_001371613.1:p.Ser754Phe, NP_001371634.1:p.Ser627Phe, NP_001371612.1:p.Ser592Phe, NP_001371635.1:p.Ser586Phe, NP_001371617.1:p.Ser736Phe, NP_001371615.1:p.Ser742Phe, NP_001371619.1:p.Ser754Phe, NP_001371616.1:p.Ser736Phe, NP_001371618.1:p.Ser754Phe, XP_047293340.1:p.Ser592Phe, NP_001371611.1:p.Ser754Phe, NP_001371620.1:p.Ser713Phe, NP_001371621.1:p.Ser736Phe, NP_001371622.1:p.Ser705Phe, NP_001371623.1:p.Ser736Phe, XP_047293334.1:p.Ser726Phe, NP_001371624.1:p.Ser713Phe, NP_001371625.1:p.Ser683Phe, NP_001371626.1:p.Ser701Phe, XP_047293336.1:p.Ser705Phe, XP_047293337.1:p.Ser701Phe, XP_047293339.1:p.Ser683Phe, XP_047293338.1:p.Ser683Phe, XP_047293325.1:p.Ser832Phe, XP_047293326.1:p.Ser814Phe, XP_047293314.1:p.Ser966Phe, XP_047293315.1:p.Ser929Phe, XP_047293316.1:p.Ser925Phe, XP_047293318.1:p.Ser904Phe, XP_047293319.1:p.Ser900Phe, XP_047293321.1:p.Ser888Phe, XP_047293335.1:p.Ser670Phe, XP_047293329.1:p.Ser779Phe, XP_047293327.1:p.Ser767Phe, XP_047293331.1:p.Ser724Phe, XP_047293330.1:p.Ser724Phe, XP_047293332.1:p.Ser695Phe, XP_047293333.1:p.Ser683Phe

                            14.

                            rs1469911854 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              18:5478270 (GRCh38)
                              18:5478269 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:5478269:C:A,NC_000018.10:5478269:C:T
                              Gene:
                              EPB41L3 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000018.10:g.5478270C>A, NC_000018.10:g.5478270C>T, NC_000018.9:g.5478269C>A, NC_000018.9:g.5478269C>T, NM_012307.5:c.352G>T, NM_012307.5:c.352G>A, NM_012307.4:c.352G>T, NM_012307.4:c.352G>A, NM_012307.3:c.352G>T, NM_012307.3:c.352G>A, NM_001281534.3:c.352G>T, NM_001281534.3:c.352G>A, NM_001281534.2:c.352G>T, NM_001281534.2:c.352G>A, NM_001281534.1:c.352G>T, NM_001281534.1:c.352G>A, XM_017025620.3:c.352G>T, XM_017025620.3:c.352G>A, XM_017025620.2:c.352G>T, XM_017025620.2:c.352G>A, XM_017025620.1:c.352G>T, XM_017025620.1:c.352G>A, NM_001330557.2:c.352G>T, NM_001330557.2:c.352G>A, NM_001330557.1:c.352G>T, NM_001330557.1:c.352G>A, NM_001281535.2:c.25G>T, NM_001281535.2:c.25G>A, NM_001281535.1:c.25G>T, NM_001281535.1:c.25G>A, NM_001281533.2:c.352G>T, NM_001281533.2:c.352G>A, NM_001281533.1:c.352G>T, NM_001281533.1:c.352G>A, XM_017025619.2:c.352G>T, XM_017025619.2:c.352G>A, XM_017025619.1:c.352G>T, XM_017025619.1:c.352G>A, XM_017025626.2:c.352G>T, XM_017025626.2:c.352G>A, XM_017025626.1:c.352G>T, XM_017025626.1:c.352G>A, XM_017025631.2:c.352G>T, XM_017025631.2:c.352G>A, XM_017025631.1:c.352G>T, XM_017025631.1:c.352G>A, XM_047437372.1:c.25G>T, XM_047437372.1:c.25G>A, NM_001384685.1:c.352G>T, NM_001384685.1:c.352G>A, XM_047437361.1:c.352G>T, XM_047437361.1:c.352G>A, XM_047437364.1:c.352G>T, XM_047437364.1:c.352G>A, XM_047437366.1:c.352G>T, XM_047437366.1:c.352G>A, XM_047437367.1:c.352G>T, XM_047437367.1:c.352G>A, XM_047437368.1:c.352G>T, XM_047437368.1:c.352G>A, NM_001384698.1:c.25G>T, NM_001384698.1:c.25G>A, NM_001384699.1:c.25G>T, NM_001384699.1:c.25G>A, NM_001384700.1:c.25G>T, NM_001384700.1:c.25G>A, NM_001384701.1:c.25G>T, NM_001384701.1:c.25G>A, NM_001384702.1:c.25G>T, NM_001384702.1:c.25G>A, NM_001384703.1:c.25G>T, NM_001384703.1:c.25G>A, NM_001384704.1:c.25G>T, NM_001384704.1:c.25G>A, NM_001384684.1:c.352G>T, NM_001384684.1:c.352G>A, NM_001384705.1:c.25G>T, NM_001384705.1:c.25G>A, NM_001384683.1:c.25G>T, NM_001384683.1:c.25G>A, NM_001384706.1:c.25G>T, NM_001384706.1:c.25G>A, NM_001384688.1:c.352G>T, NM_001384688.1:c.352G>A, NM_001384686.1:c.352G>T, NM_001384686.1:c.352G>A, NM_001384690.1:c.352G>T, NM_001384690.1:c.352G>A, NM_001384687.1:c.352G>T, NM_001384687.1:c.352G>A, NM_001384689.1:c.352G>T, NM_001384689.1:c.352G>A, XM_047437384.1:c.25G>T, XM_047437384.1:c.25G>A, NM_001384682.1:c.352G>T, NM_001384682.1:c.352G>A, NM_001384691.1:c.352G>T, NM_001384691.1:c.352G>A, NM_001384692.1:c.352G>T, NM_001384692.1:c.352G>A, NM_001384693.1:c.352G>T, NM_001384693.1:c.352G>A, NM_001384694.1:c.352G>T, NM_001384694.1:c.352G>A, XM_047437378.1:c.352G>T, XM_047437378.1:c.352G>A, NM_001384695.1:c.352G>T, NM_001384695.1:c.352G>A, NM_001384696.1:c.352G>T, NM_001384696.1:c.352G>A, NM_001384697.1:c.352G>T, NM_001384697.1:c.352G>A, XM_047437380.1:c.352G>T, XM_047437380.1:c.352G>A, XM_047437381.1:c.352G>T, XM_047437381.1:c.352G>A, XM_047437383.1:c.352G>T, XM_047437383.1:c.352G>A, XM_047437382.1:c.352G>T, XM_047437382.1:c.352G>A, XM_047437369.1:c.25G>T, XM_047437369.1:c.25G>A, XM_047437370.1:c.25G>T, XM_047437370.1:c.25G>A, XM_047437358.1:c.352G>T, XM_047437358.1:c.352G>A, XM_047437359.1:c.352G>T, XM_047437359.1:c.352G>A, XM_047437360.1:c.352G>T, XM_047437360.1:c.352G>A, XM_047437362.1:c.352G>T, XM_047437362.1:c.352G>A, XM_047437363.1:c.352G>T, XM_047437363.1:c.352G>A, XM_047437365.1:c.352G>T, XM_047437365.1:c.352G>A, XM_047437379.1:c.25G>T, XM_047437379.1:c.25G>A, XM_047437373.1:c.352G>T, XM_047437373.1:c.352G>A, XM_047437371.1:c.352G>T, XM_047437371.1:c.352G>A, XM_047437375.1:c.352G>T, XM_047437375.1:c.352G>A, XM_047437374.1:c.352G>T, XM_047437374.1:c.352G>A, XM_047437376.1:c.352G>T, XM_047437376.1:c.352G>A, XM_047437377.1:c.352G>T, XM_047437377.1:c.352G>A, NP_036439.2:p.Asp118Tyr, NP_036439.2:p.Asp118Asn, NP_001268463.1:p.Asp118Tyr, NP_001268463.1:p.Asp118Asn, XP_016881109.1:p.Asp118Tyr, XP_016881109.1:p.Asp118Asn, NP_001317486.1:p.Asp118Tyr, NP_001317486.1:p.Asp118Asn, NP_001268464.1:p.Asp9Tyr, NP_001268464.1:p.Asp9Asn, NP_001268462.1:p.Asp118Tyr, NP_001268462.1:p.Asp118Asn, XP_016881108.1:p.Asp118Tyr, XP_016881108.1:p.Asp118Asn, XP_016881115.1:p.Asp118Tyr, XP_016881115.1:p.Asp118Asn, XP_016881120.1:p.Asp118Tyr, XP_016881120.1:p.Asp118Asn, XP_047293328.1:p.Asp9Tyr, XP_047293328.1:p.Asp9Asn, NP_001371614.1:p.Asp118Tyr, NP_001371614.1:p.Asp118Asn, XP_047293317.1:p.Asp118Tyr, XP_047293317.1:p.Asp118Asn, XP_047293320.1:p.Asp118Tyr, XP_047293320.1:p.Asp118Asn, XP_047293322.1:p.Asp118Tyr, XP_047293322.1:p.Asp118Asn, XP_047293323.1:p.Asp118Tyr, XP_047293323.1:p.Asp118Asn, XP_047293324.1:p.Asp118Tyr, XP_047293324.1:p.Asp118Asn, NP_001371627.1:p.Asp9Tyr, NP_001371627.1:p.Asp9Asn, NP_001371628.1:p.Asp9Tyr, NP_001371628.1:p.Asp9Asn, NP_001371629.1:p.Asp9Tyr, NP_001371629.1:p.Asp9Asn, NP_001371630.1:p.Asp9Tyr, NP_001371630.1:p.Asp9Asn, NP_001371631.1:p.Asp9Tyr, NP_001371631.1:p.Asp9Asn, NP_001371632.1:p.Asp9Tyr, NP_001371632.1:p.Asp9Asn, NP_001371633.1:p.Asp9Tyr, NP_001371633.1:p.Asp9Asn, NP_001371613.1:p.Asp118Tyr, NP_001371613.1:p.Asp118Asn, NP_001371634.1:p.Asp9Tyr, NP_001371634.1:p.Asp9Asn, NP_001371612.1:p.Asp9Tyr, NP_001371612.1:p.Asp9Asn, NP_001371635.1:p.Asp9Tyr, NP_001371635.1:p.Asp9Asn, NP_001371617.1:p.Asp118Tyr, NP_001371617.1:p.Asp118Asn, NP_001371615.1:p.Asp118Tyr, NP_001371615.1:p.Asp118Asn, NP_001371619.1:p.Asp118Tyr, NP_001371619.1:p.Asp118Asn, NP_001371616.1:p.Asp118Tyr, NP_001371616.1:p.Asp118Asn, NP_001371618.1:p.Asp118Tyr, NP_001371618.1:p.Asp118Asn, XP_047293340.1:p.Asp9Tyr, XP_047293340.1:p.Asp9Asn, NP_001371611.1:p.Asp118Tyr, NP_001371611.1:p.Asp118Asn, NP_001371620.1:p.Asp118Tyr, NP_001371620.1:p.Asp118Asn, NP_001371621.1:p.Asp118Tyr, NP_001371621.1:p.Asp118Asn, NP_001371622.1:p.Asp118Tyr, NP_001371622.1:p.Asp118Asn, NP_001371623.1:p.Asp118Tyr, NP_001371623.1:p.Asp118Asn, XP_047293334.1:p.Asp118Tyr, XP_047293334.1:p.Asp118Asn, NP_001371624.1:p.Asp118Tyr, NP_001371624.1:p.Asp118Asn, NP_001371625.1:p.Asp118Tyr, NP_001371625.1:p.Asp118Asn, NP_001371626.1:p.Asp118Tyr, NP_001371626.1:p.Asp118Asn, XP_047293336.1:p.Asp118Tyr, XP_047293336.1:p.Asp118Asn, XP_047293337.1:p.Asp118Tyr, XP_047293337.1:p.Asp118Asn, XP_047293339.1:p.Asp118Tyr, XP_047293339.1:p.Asp118Asn, XP_047293338.1:p.Asp118Tyr, XP_047293338.1:p.Asp118Asn, XP_047293325.1:p.Asp9Tyr, XP_047293325.1:p.Asp9Asn, XP_047293326.1:p.Asp9Tyr, XP_047293326.1:p.Asp9Asn, XP_047293314.1:p.Asp118Tyr, XP_047293314.1:p.Asp118Asn, XP_047293315.1:p.Asp118Tyr, XP_047293315.1:p.Asp118Asn, XP_047293316.1:p.Asp118Tyr, XP_047293316.1:p.Asp118Asn, XP_047293318.1:p.Asp118Tyr, XP_047293318.1:p.Asp118Asn, XP_047293319.1:p.Asp118Tyr, XP_047293319.1:p.Asp118Asn, XP_047293321.1:p.Asp118Tyr, XP_047293321.1:p.Asp118Asn, XP_047293335.1:p.Asp9Tyr, XP_047293335.1:p.Asp9Asn, XP_047293329.1:p.Asp118Tyr, XP_047293329.1:p.Asp118Asn, XP_047293327.1:p.Asp118Tyr, XP_047293327.1:p.Asp118Asn, XP_047293331.1:p.Asp118Tyr, XP_047293331.1:p.Asp118Asn, XP_047293330.1:p.Asp118Tyr, XP_047293330.1:p.Asp118Asn, XP_047293332.1:p.Asp118Tyr, XP_047293332.1:p.Asp118Asn, XP_047293333.1:p.Asp118Tyr, XP_047293333.1:p.Asp118Asn

                              15.

                              rs1469881115 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                18:5489099 (GRCh38)
                                18:5489098 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:5489098:C:G,NC_000018.10:5489098:C:T
                                Gene:
                                EPB41L3 (Varview)
                                Functional Consequence:
                                missense_variant,5_prime_UTR_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                T=0.000021/3 (GnomAD)
                                G=0.000035/1 (TOMMO)
                                HGVS:
                                NC_000018.10:g.5489099C>G, NC_000018.10:g.5489099C>T, NC_000018.9:g.5489098C>G, NC_000018.9:g.5489098C>T, NM_012307.5:c.85G>C, NM_012307.5:c.85G>A, NM_012307.4:c.85G>C, NM_012307.4:c.85G>A, NM_012307.3:c.85G>C, NM_012307.3:c.85G>A, NM_001281534.3:c.85G>C, NM_001281534.3:c.85G>A, NM_001281534.2:c.85G>C, NM_001281534.2:c.85G>A, NM_001281534.1:c.85G>C, NM_001281534.1:c.85G>A, XM_017025620.3:c.85G>C, XM_017025620.3:c.85G>A, XM_017025620.2:c.85G>C, XM_017025620.2:c.85G>A, XM_017025620.1:c.85G>C, XM_017025620.1:c.85G>A, NM_001330557.2:c.85G>C, NM_001330557.2:c.85G>A, NM_001330557.1:c.85G>C, NM_001330557.1:c.85G>A, NM_001281535.2:c.-243G>C, NM_001281535.2:c.-243G>A, NM_001281535.1:c.-243G>C, NM_001281535.1:c.-243G>A, NM_001281533.2:c.85G>C, NM_001281533.2:c.85G>A, NM_001281533.1:c.85G>C, NM_001281533.1:c.85G>A, XM_017025619.2:c.85G>C, XM_017025619.2:c.85G>A, XM_017025619.1:c.85G>C, XM_017025619.1:c.85G>A, XM_017025626.2:c.85G>C, XM_017025626.2:c.85G>A, XM_017025626.1:c.85G>C, XM_017025626.1:c.85G>A, XM_017025631.2:c.85G>C, XM_017025631.2:c.85G>A, XM_017025631.1:c.85G>C, XM_017025631.1:c.85G>A, XM_047437372.1:c.-243G>C, XM_047437372.1:c.-243G>A, NM_001384685.1:c.85G>C, NM_001384685.1:c.85G>A, XM_047437361.1:c.85G>C, XM_047437361.1:c.85G>A, XM_047437364.1:c.85G>C, XM_047437364.1:c.85G>A, XM_047437366.1:c.85G>C, XM_047437366.1:c.85G>A, XM_047437367.1:c.85G>C, XM_047437367.1:c.85G>A, XM_047437368.1:c.85G>C, XM_047437368.1:c.85G>A, NM_001384698.1:c.-243G>C, NM_001384698.1:c.-243G>A, NM_001384699.1:c.-243G>C, NM_001384699.1:c.-243G>A, NM_001384700.1:c.-243G>C, NM_001384700.1:c.-243G>A, NM_001384701.1:c.-243G>C, NM_001384701.1:c.-243G>A, NM_001384702.1:c.-243G>C, NM_001384702.1:c.-243G>A, NM_001384703.1:c.-243G>C, NM_001384703.1:c.-243G>A, NM_001384704.1:c.-243G>C, NM_001384704.1:c.-243G>A, NM_001384684.1:c.85G>C, NM_001384684.1:c.85G>A, NM_001384705.1:c.-243G>C, NM_001384705.1:c.-243G>A, NM_001384683.1:c.-243G>C, NM_001384683.1:c.-243G>A, NM_001384706.1:c.-243G>C, NM_001384706.1:c.-243G>A, NM_001384688.1:c.85G>C, NM_001384688.1:c.85G>A, NM_001384686.1:c.85G>C, NM_001384686.1:c.85G>A, NM_001384690.1:c.85G>C, NM_001384690.1:c.85G>A, NM_001384687.1:c.85G>C, NM_001384687.1:c.85G>A, NM_001384689.1:c.85G>C, NM_001384689.1:c.85G>A, XM_047437384.1:c.-243G>C, XM_047437384.1:c.-243G>A, NM_001384682.1:c.85G>C, NM_001384682.1:c.85G>A, NM_001384691.1:c.85G>C, NM_001384691.1:c.85G>A, NM_001384692.1:c.85G>C, NM_001384692.1:c.85G>A, NM_001384693.1:c.85G>C, NM_001384693.1:c.85G>A, NM_001384694.1:c.85G>C, NM_001384694.1:c.85G>A, XM_047437378.1:c.85G>C, XM_047437378.1:c.85G>A, NM_001384695.1:c.85G>C, NM_001384695.1:c.85G>A, NM_001384696.1:c.85G>C, NM_001384696.1:c.85G>A, NM_001384697.1:c.85G>C, NM_001384697.1:c.85G>A, XM_047437380.1:c.85G>C, XM_047437380.1:c.85G>A, XM_047437381.1:c.85G>C, XM_047437381.1:c.85G>A, XM_047437383.1:c.85G>C, XM_047437383.1:c.85G>A, XM_047437382.1:c.85G>C, XM_047437382.1:c.85G>A, XM_047437369.1:c.-243G>C, XM_047437369.1:c.-243G>A, XM_047437370.1:c.-243G>C, XM_047437370.1:c.-243G>A, XM_047437358.1:c.85G>C, XM_047437358.1:c.85G>A, XM_047437359.1:c.85G>C, XM_047437359.1:c.85G>A, XM_047437360.1:c.85G>C, XM_047437360.1:c.85G>A, XM_047437362.1:c.85G>C, XM_047437362.1:c.85G>A, XM_047437363.1:c.85G>C, XM_047437363.1:c.85G>A, XM_047437365.1:c.85G>C, XM_047437365.1:c.85G>A, XM_047437379.1:c.-243G>C, XM_047437379.1:c.-243G>A, XM_047437373.1:c.85G>C, XM_047437373.1:c.85G>A, XM_047437371.1:c.85G>C, XM_047437371.1:c.85G>A, XM_047437375.1:c.85G>C, XM_047437375.1:c.85G>A, XM_047437374.1:c.85G>C, XM_047437374.1:c.85G>A, XM_047437376.1:c.85G>C, XM_047437376.1:c.85G>A, XM_047437377.1:c.85G>C, XM_047437377.1:c.85G>A, NP_036439.2:p.Ala29Pro, NP_036439.2:p.Ala29Thr, NP_001268463.1:p.Ala29Pro, NP_001268463.1:p.Ala29Thr, XP_016881109.1:p.Ala29Pro, XP_016881109.1:p.Ala29Thr, NP_001317486.1:p.Ala29Pro, NP_001317486.1:p.Ala29Thr, NP_001268462.1:p.Ala29Pro, NP_001268462.1:p.Ala29Thr, XP_016881108.1:p.Ala29Pro, XP_016881108.1:p.Ala29Thr, XP_016881115.1:p.Ala29Pro, XP_016881115.1:p.Ala29Thr, XP_016881120.1:p.Ala29Pro, XP_016881120.1:p.Ala29Thr, NP_001371614.1:p.Ala29Pro, NP_001371614.1:p.Ala29Thr, XP_047293317.1:p.Ala29Pro, XP_047293317.1:p.Ala29Thr, XP_047293320.1:p.Ala29Pro, XP_047293320.1:p.Ala29Thr, XP_047293322.1:p.Ala29Pro, XP_047293322.1:p.Ala29Thr, XP_047293323.1:p.Ala29Pro, XP_047293323.1:p.Ala29Thr, XP_047293324.1:p.Ala29Pro, XP_047293324.1:p.Ala29Thr, NP_001371613.1:p.Ala29Pro, NP_001371613.1:p.Ala29Thr, NP_001371617.1:p.Ala29Pro, NP_001371617.1:p.Ala29Thr, NP_001371615.1:p.Ala29Pro, NP_001371615.1:p.Ala29Thr, NP_001371619.1:p.Ala29Pro, NP_001371619.1:p.Ala29Thr, NP_001371616.1:p.Ala29Pro, NP_001371616.1:p.Ala29Thr, NP_001371618.1:p.Ala29Pro, NP_001371618.1:p.Ala29Thr, NP_001371611.1:p.Ala29Pro, NP_001371611.1:p.Ala29Thr, NP_001371620.1:p.Ala29Pro, NP_001371620.1:p.Ala29Thr, NP_001371621.1:p.Ala29Pro, NP_001371621.1:p.Ala29Thr, NP_001371622.1:p.Ala29Pro, NP_001371622.1:p.Ala29Thr, NP_001371623.1:p.Ala29Pro, NP_001371623.1:p.Ala29Thr, XP_047293334.1:p.Ala29Pro, XP_047293334.1:p.Ala29Thr, NP_001371624.1:p.Ala29Pro, NP_001371624.1:p.Ala29Thr, NP_001371625.1:p.Ala29Pro, NP_001371625.1:p.Ala29Thr, NP_001371626.1:p.Ala29Pro, NP_001371626.1:p.Ala29Thr, XP_047293336.1:p.Ala29Pro, XP_047293336.1:p.Ala29Thr, XP_047293337.1:p.Ala29Pro, XP_047293337.1:p.Ala29Thr, XP_047293339.1:p.Ala29Pro, XP_047293339.1:p.Ala29Thr, XP_047293338.1:p.Ala29Pro, XP_047293338.1:p.Ala29Thr, XP_047293314.1:p.Ala29Pro, XP_047293314.1:p.Ala29Thr, XP_047293315.1:p.Ala29Pro, XP_047293315.1:p.Ala29Thr, XP_047293316.1:p.Ala29Pro, XP_047293316.1:p.Ala29Thr, XP_047293318.1:p.Ala29Pro, XP_047293318.1:p.Ala29Thr, XP_047293319.1:p.Ala29Pro, XP_047293319.1:p.Ala29Thr, XP_047293321.1:p.Ala29Pro, XP_047293321.1:p.Ala29Thr, XP_047293329.1:p.Ala29Pro, XP_047293329.1:p.Ala29Thr, XP_047293327.1:p.Ala29Pro, XP_047293327.1:p.Ala29Thr, XP_047293331.1:p.Ala29Pro, XP_047293331.1:p.Ala29Thr, XP_047293330.1:p.Ala29Pro, XP_047293330.1:p.Ala29Thr, XP_047293332.1:p.Ala29Pro, XP_047293332.1:p.Ala29Thr, XP_047293333.1:p.Ala29Pro, XP_047293333.1:p.Ala29Thr

                                16.

                                rs1468867690 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  18:5407730 (GRCh38)
                                  18:5407729 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:5407729:G:T
                                  Gene:
                                  EPB41L3 (Varview)
                                  Functional Consequence:
                                  missense_variant,intron_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000018.10:g.5407730G>T, NC_000018.9:g.5407729G>T, NM_012307.5:c.2128C>A, NM_012307.4:c.2128C>A, NM_012307.3:c.2128C>A, NM_001330557.2:c.1621C>A, NM_001330557.1:c.1621C>A, NM_001281533.2:c.1621C>A, NM_001281533.1:c.1621C>A, XM_047437372.1:c.1855C>A, NM_001384685.1:c.2182C>A, XM_047437361.1:c.2182C>A, XM_047437366.1:c.2182C>A, NM_001384698.1:c.1294C>A, NM_001384700.1:c.1240C>A, NM_001384701.1:c.1294C>A, NM_001384703.1:c.1294C>A, NM_001384704.1:c.1294C>A, NM_001384684.1:c.1621C>A, NM_001384705.1:c.1240C>A, NM_001384706.1:c.1240C>A, NM_001384688.1:c.1567C>A, NM_001384690.1:c.1621C>A, NM_001384687.1:c.1567C>A, NM_001384689.1:c.1621C>A, NM_001384682.1:c.1621C>A, NM_001384691.1:c.1621C>A, NM_001384692.1:c.1567C>A, NM_001384694.1:c.1567C>A, NM_001384695.1:c.1621C>A, XM_047437369.1:c.1855C>A, XM_047437370.1:c.1801C>A, XM_047437358.1:c.2182C>A, XM_047437360.1:c.2182C>A, XM_047437362.1:c.2182C>A, XM_047437363.1:c.2182C>A, XM_047437379.1:c.1294C>A, XM_047437373.1:c.1621C>A, XM_047437376.1:c.1567C>A, NP_036439.2:p.Gln710Lys, NP_001317486.1:p.Gln541Lys, NP_001268462.1:p.Gln541Lys, XP_047293328.1:p.Gln619Lys, NP_001371614.1:p.Gln728Lys, XP_047293317.1:p.Gln728Lys, XP_047293322.1:p.Gln728Lys, NP_001371627.1:p.Gln432Lys, NP_001371629.1:p.Gln414Lys, NP_001371630.1:p.Gln432Lys, NP_001371632.1:p.Gln432Lys, NP_001371633.1:p.Gln432Lys, NP_001371613.1:p.Gln541Lys, NP_001371634.1:p.Gln414Lys, NP_001371635.1:p.Gln414Lys, NP_001371617.1:p.Gln523Lys, NP_001371619.1:p.Gln541Lys, NP_001371616.1:p.Gln523Lys, NP_001371618.1:p.Gln541Lys, NP_001371611.1:p.Gln541Lys, NP_001371620.1:p.Gln541Lys, NP_001371621.1:p.Gln523Lys, NP_001371623.1:p.Gln523Lys, NP_001371624.1:p.Gln541Lys, XP_047293325.1:p.Gln619Lys, XP_047293326.1:p.Gln601Lys, XP_047293314.1:p.Gln728Lys, XP_047293316.1:p.Gln728Lys, XP_047293318.1:p.Gln728Lys, XP_047293319.1:p.Gln728Lys, XP_047293335.1:p.Gln432Lys, XP_047293329.1:p.Gln541Lys, XP_047293332.1:p.Gln523Lys

                                  17.

                                  rs1468545754 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    18:5433957 (GRCh38)
                                    18:5433956 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:5433956:G:C
                                    Gene:
                                    EPB41L3 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000018.10:g.5433957G>C, NC_000018.9:g.5433956G>C, NM_012307.5:c.770C>G, NM_012307.4:c.770C>G, NM_012307.3:c.770C>G, NM_001281534.3:c.770C>G, NM_001281534.2:c.770C>G, NM_001281534.1:c.770C>G, XM_017025620.3:c.770C>G, XM_017025620.2:c.770C>G, XM_017025620.1:c.770C>G, NM_001330557.2:c.770C>G, NM_001330557.1:c.770C>G, NM_001281535.2:c.443C>G, NM_001281535.1:c.443C>G, NM_001281533.2:c.770C>G, NM_001281533.1:c.770C>G, XM_017025619.2:c.770C>G, XM_017025619.1:c.770C>G, XM_017025626.2:c.770C>G, XM_017025626.1:c.770C>G, XM_017025631.2:c.770C>G, XM_017025631.1:c.770C>G, XM_047437372.1:c.443C>G, NM_001384685.1:c.770C>G, XM_047437361.1:c.770C>G, XM_047437364.1:c.770C>G, XM_047437366.1:c.770C>G, XM_047437367.1:c.770C>G, XM_047437368.1:c.770C>G, NM_001384698.1:c.443C>G, NM_001384699.1:c.443C>G, NM_001384700.1:c.443C>G, NM_001384701.1:c.443C>G, NM_001384702.1:c.443C>G, NM_001384703.1:c.443C>G, NM_001384704.1:c.443C>G, NM_001384684.1:c.770C>G, NM_001384705.1:c.443C>G, NM_001384683.1:c.443C>G, NM_001384706.1:c.443C>G, NM_001384688.1:c.770C>G, NM_001384686.1:c.770C>G, NM_001384690.1:c.770C>G, NM_001384687.1:c.770C>G, NM_001384689.1:c.770C>G, XM_047437384.1:c.443C>G, NM_001384682.1:c.770C>G, NM_001384691.1:c.770C>G, NM_001384692.1:c.770C>G, NM_001384693.1:c.770C>G, NM_001384694.1:c.770C>G, XM_047437378.1:c.770C>G, NM_001384695.1:c.770C>G, NM_001384696.1:c.770C>G, NM_001384697.1:c.770C>G, XM_047437380.1:c.770C>G, XM_047437381.1:c.770C>G, XM_047437383.1:c.770C>G, XM_047437382.1:c.770C>G, XM_047437369.1:c.443C>G, XM_047437370.1:c.443C>G, XM_047437358.1:c.770C>G, XM_047437359.1:c.770C>G, XM_047437360.1:c.770C>G, XM_047437362.1:c.770C>G, XM_047437363.1:c.770C>G, XM_047437365.1:c.770C>G, XM_047437379.1:c.443C>G, XM_047437373.1:c.770C>G, XM_047437371.1:c.770C>G, XM_047437375.1:c.770C>G, XM_047437374.1:c.770C>G, XM_047437376.1:c.770C>G, XM_047437377.1:c.770C>G, NP_036439.2:p.Pro257Arg, NP_001268463.1:p.Pro257Arg, XP_016881109.1:p.Pro257Arg, NP_001317486.1:p.Pro257Arg, NP_001268464.1:p.Pro148Arg, NP_001268462.1:p.Pro257Arg, XP_016881108.1:p.Pro257Arg, XP_016881115.1:p.Pro257Arg, XP_016881120.1:p.Pro257Arg, XP_047293328.1:p.Pro148Arg, NP_001371614.1:p.Pro257Arg, XP_047293317.1:p.Pro257Arg, XP_047293320.1:p.Pro257Arg, XP_047293322.1:p.Pro257Arg, XP_047293323.1:p.Pro257Arg, XP_047293324.1:p.Pro257Arg, NP_001371627.1:p.Pro148Arg, NP_001371628.1:p.Pro148Arg, NP_001371629.1:p.Pro148Arg, NP_001371630.1:p.Pro148Arg, NP_001371631.1:p.Pro148Arg, NP_001371632.1:p.Pro148Arg, NP_001371633.1:p.Pro148Arg, NP_001371613.1:p.Pro257Arg, NP_001371634.1:p.Pro148Arg, NP_001371612.1:p.Pro148Arg, NP_001371635.1:p.Pro148Arg, NP_001371617.1:p.Pro257Arg, NP_001371615.1:p.Pro257Arg, NP_001371619.1:p.Pro257Arg, NP_001371616.1:p.Pro257Arg, NP_001371618.1:p.Pro257Arg, XP_047293340.1:p.Pro148Arg, NP_001371611.1:p.Pro257Arg, NP_001371620.1:p.Pro257Arg, NP_001371621.1:p.Pro257Arg, NP_001371622.1:p.Pro257Arg, NP_001371623.1:p.Pro257Arg, XP_047293334.1:p.Pro257Arg, NP_001371624.1:p.Pro257Arg, NP_001371625.1:p.Pro257Arg, NP_001371626.1:p.Pro257Arg, XP_047293336.1:p.Pro257Arg, XP_047293337.1:p.Pro257Arg, XP_047293339.1:p.Pro257Arg, XP_047293338.1:p.Pro257Arg, XP_047293325.1:p.Pro148Arg, XP_047293326.1:p.Pro148Arg, XP_047293314.1:p.Pro257Arg, XP_047293315.1:p.Pro257Arg, XP_047293316.1:p.Pro257Arg, XP_047293318.1:p.Pro257Arg, XP_047293319.1:p.Pro257Arg, XP_047293321.1:p.Pro257Arg, XP_047293335.1:p.Pro148Arg, XP_047293329.1:p.Pro257Arg, XP_047293327.1:p.Pro257Arg, XP_047293331.1:p.Pro257Arg, XP_047293330.1:p.Pro257Arg, XP_047293332.1:p.Pro257Arg, XP_047293333.1:p.Pro257Arg

                                    18.

                                    rs1466780870 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      18:5489038 (GRCh38)
                                      18:5489037 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:5489037:G:C
                                      Gene:
                                      EPB41L3 (Varview)
                                      Functional Consequence:
                                      missense_variant,5_prime_UTR_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000009/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000018.10:g.5489038G>C, NC_000018.9:g.5489037G>C, NM_012307.5:c.146C>G, NM_012307.4:c.146C>G, NM_012307.3:c.146C>G, NM_001281534.3:c.146C>G, NM_001281534.2:c.146C>G, NM_001281534.1:c.146C>G, XM_017025620.3:c.146C>G, XM_017025620.2:c.146C>G, XM_017025620.1:c.146C>G, NM_001330557.2:c.146C>G, NM_001330557.1:c.146C>G, NM_001281535.2:c.-182C>G, NM_001281535.1:c.-182C>G, NM_001281533.2:c.146C>G, NM_001281533.1:c.146C>G, XM_017025619.2:c.146C>G, XM_017025619.1:c.146C>G, XM_017025626.2:c.146C>G, XM_017025626.1:c.146C>G, XM_017025631.2:c.146C>G, XM_017025631.1:c.146C>G, XM_047437372.1:c.-182C>G, NM_001384685.1:c.146C>G, XM_047437361.1:c.146C>G, XM_047437364.1:c.146C>G, XM_047437366.1:c.146C>G, XM_047437367.1:c.146C>G, XM_047437368.1:c.146C>G, NM_001384698.1:c.-182C>G, NM_001384699.1:c.-182C>G, NM_001384700.1:c.-182C>G, NM_001384701.1:c.-182C>G, NM_001384702.1:c.-182C>G, NM_001384703.1:c.-182C>G, NM_001384704.1:c.-182C>G, NM_001384684.1:c.146C>G, NM_001384705.1:c.-182C>G, NM_001384683.1:c.-182C>G, NM_001384706.1:c.-182C>G, NM_001384688.1:c.146C>G, NM_001384686.1:c.146C>G, NM_001384690.1:c.146C>G, NM_001384687.1:c.146C>G, NM_001384689.1:c.146C>G, XM_047437384.1:c.-182C>G, NM_001384682.1:c.146C>G, NM_001384691.1:c.146C>G, NM_001384692.1:c.146C>G, NM_001384693.1:c.146C>G, NM_001384694.1:c.146C>G, XM_047437378.1:c.146C>G, NM_001384695.1:c.146C>G, NM_001384696.1:c.146C>G, NM_001384697.1:c.146C>G, XM_047437380.1:c.146C>G, XM_047437381.1:c.146C>G, XM_047437383.1:c.146C>G, XM_047437382.1:c.146C>G, XM_047437369.1:c.-182C>G, XM_047437370.1:c.-182C>G, XM_047437358.1:c.146C>G, XM_047437359.1:c.146C>G, XM_047437360.1:c.146C>G, XM_047437362.1:c.146C>G, XM_047437363.1:c.146C>G, XM_047437365.1:c.146C>G, XM_047437379.1:c.-182C>G, XM_047437373.1:c.146C>G, XM_047437371.1:c.146C>G, XM_047437375.1:c.146C>G, XM_047437374.1:c.146C>G, XM_047437376.1:c.146C>G, XM_047437377.1:c.146C>G, NP_036439.2:p.Ala49Gly, NP_001268463.1:p.Ala49Gly, XP_016881109.1:p.Ala49Gly, NP_001317486.1:p.Ala49Gly, NP_001268462.1:p.Ala49Gly, XP_016881108.1:p.Ala49Gly, XP_016881115.1:p.Ala49Gly, XP_016881120.1:p.Ala49Gly, NP_001371614.1:p.Ala49Gly, XP_047293317.1:p.Ala49Gly, XP_047293320.1:p.Ala49Gly, XP_047293322.1:p.Ala49Gly, XP_047293323.1:p.Ala49Gly, XP_047293324.1:p.Ala49Gly, NP_001371613.1:p.Ala49Gly, NP_001371617.1:p.Ala49Gly, NP_001371615.1:p.Ala49Gly, NP_001371619.1:p.Ala49Gly, NP_001371616.1:p.Ala49Gly, NP_001371618.1:p.Ala49Gly, NP_001371611.1:p.Ala49Gly, NP_001371620.1:p.Ala49Gly, NP_001371621.1:p.Ala49Gly, NP_001371622.1:p.Ala49Gly, NP_001371623.1:p.Ala49Gly, XP_047293334.1:p.Ala49Gly, NP_001371624.1:p.Ala49Gly, NP_001371625.1:p.Ala49Gly, NP_001371626.1:p.Ala49Gly, XP_047293336.1:p.Ala49Gly, XP_047293337.1:p.Ala49Gly, XP_047293339.1:p.Ala49Gly, XP_047293338.1:p.Ala49Gly, XP_047293314.1:p.Ala49Gly, XP_047293315.1:p.Ala49Gly, XP_047293316.1:p.Ala49Gly, XP_047293318.1:p.Ala49Gly, XP_047293319.1:p.Ala49Gly, XP_047293321.1:p.Ala49Gly, XP_047293329.1:p.Ala49Gly, XP_047293327.1:p.Ala49Gly, XP_047293331.1:p.Ala49Gly, XP_047293330.1:p.Ala49Gly, XP_047293332.1:p.Ala49Gly, XP_047293333.1:p.Ala49Gly

                                      19.

                                      rs1461584618 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        18:5443860 (GRCh38)
                                        18:5443859 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:5443859:C:T
                                        Gene:
                                        EPB41L3 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        T=0.000007/1 (GnomAD)
                                        T=0.000024/6 (GnomAD_exomes)
                                        HGVS:
                                        NC_000018.10:g.5443860C>T, NC_000018.9:g.5443859C>T, NM_012307.5:c.507G>A, NM_012307.4:c.507G>A, NM_012307.3:c.507G>A, NM_001281534.3:c.507G>A, NM_001281534.2:c.507G>A, NM_001281534.1:c.507G>A, XM_017025620.3:c.507G>A, XM_017025620.2:c.507G>A, XM_017025620.1:c.507G>A, NM_001330557.2:c.507G>A, NM_001330557.1:c.507G>A, NM_001281535.2:c.180G>A, NM_001281535.1:c.180G>A, NM_001281533.2:c.507G>A, NM_001281533.1:c.507G>A, XM_017025619.2:c.507G>A, XM_017025619.1:c.507G>A, XM_017025626.2:c.507G>A, XM_017025626.1:c.507G>A, XM_017025631.2:c.507G>A, XM_017025631.1:c.507G>A, XM_047437372.1:c.180G>A, NM_001384685.1:c.507G>A, XM_047437361.1:c.507G>A, XM_047437364.1:c.507G>A, XM_047437366.1:c.507G>A, XM_047437367.1:c.507G>A, XM_047437368.1:c.507G>A, NM_001384698.1:c.180G>A, NM_001384699.1:c.180G>A, NM_001384700.1:c.180G>A, NM_001384701.1:c.180G>A, NM_001384702.1:c.180G>A, NM_001384703.1:c.180G>A, NM_001384704.1:c.180G>A, NM_001384684.1:c.507G>A, NM_001384705.1:c.180G>A, NM_001384683.1:c.180G>A, NM_001384706.1:c.180G>A, NM_001384688.1:c.507G>A, NM_001384686.1:c.507G>A, NM_001384690.1:c.507G>A, NM_001384687.1:c.507G>A, NM_001384689.1:c.507G>A, XM_047437384.1:c.180G>A, NM_001384682.1:c.507G>A, NM_001384691.1:c.507G>A, NM_001384692.1:c.507G>A, NM_001384693.1:c.507G>A, NM_001384694.1:c.507G>A, XM_047437378.1:c.507G>A, NM_001384695.1:c.507G>A, NM_001384696.1:c.507G>A, NM_001384697.1:c.507G>A, XM_047437380.1:c.507G>A, XM_047437381.1:c.507G>A, XM_047437383.1:c.507G>A, XM_047437382.1:c.507G>A, XM_047437369.1:c.180G>A, XM_047437370.1:c.180G>A, XM_047437358.1:c.507G>A, XM_047437359.1:c.507G>A, XM_047437360.1:c.507G>A, XM_047437362.1:c.507G>A, XM_047437363.1:c.507G>A, XM_047437365.1:c.507G>A, XM_047437379.1:c.180G>A, XM_047437373.1:c.507G>A, XM_047437371.1:c.507G>A, XM_047437375.1:c.507G>A, XM_047437374.1:c.507G>A, XM_047437376.1:c.507G>A, XM_047437377.1:c.507G>A

                                        20.

                                        rs1461530574 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          18:5478310 (GRCh38)
                                          18:5478309 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:5478309:G:C
                                          Gene:
                                          EPB41L3 (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000018.10:g.5478310G>C, NC_000018.9:g.5478309G>C, NM_012307.5:c.312C>G, NM_012307.4:c.312C>G, NM_012307.3:c.312C>G, NM_001281534.3:c.312C>G, NM_001281534.2:c.312C>G, NM_001281534.1:c.312C>G, XM_017025620.3:c.312C>G, XM_017025620.2:c.312C>G, XM_017025620.1:c.312C>G, NM_001330557.2:c.312C>G, NM_001330557.1:c.312C>G, NM_001281535.2:c.-16C>G, NM_001281535.1:c.-16C>G, NM_001281533.2:c.312C>G, NM_001281533.1:c.312C>G, XM_017025619.2:c.312C>G, XM_017025619.1:c.312C>G, XM_017025626.2:c.312C>G, XM_017025626.1:c.312C>G, XM_017025631.2:c.312C>G, XM_017025631.1:c.312C>G, XM_047437372.1:c.-16C>G, NM_001384685.1:c.312C>G, XM_047437361.1:c.312C>G, XM_047437364.1:c.312C>G, XM_047437366.1:c.312C>G, XM_047437367.1:c.312C>G, XM_047437368.1:c.312C>G, NM_001384698.1:c.-16C>G, NM_001384699.1:c.-16C>G, NM_001384700.1:c.-16C>G, NM_001384701.1:c.-16C>G, NM_001384702.1:c.-16C>G, NM_001384703.1:c.-16C>G, NM_001384704.1:c.-16C>G, NM_001384684.1:c.312C>G, NM_001384705.1:c.-16C>G, NM_001384683.1:c.-16C>G, NM_001384706.1:c.-16C>G, NM_001384688.1:c.312C>G, NM_001384686.1:c.312C>G, NM_001384690.1:c.312C>G, NM_001384687.1:c.312C>G, NM_001384689.1:c.312C>G, XM_047437384.1:c.-16C>G, NM_001384682.1:c.312C>G, NM_001384691.1:c.312C>G, NM_001384692.1:c.312C>G, NM_001384693.1:c.312C>G, NM_001384694.1:c.312C>G, XM_047437378.1:c.312C>G, NM_001384695.1:c.312C>G, NM_001384696.1:c.312C>G, NM_001384697.1:c.312C>G, XM_047437380.1:c.312C>G, XM_047437381.1:c.312C>G, XM_047437383.1:c.312C>G, XM_047437382.1:c.312C>G, XM_047437369.1:c.-16C>G, XM_047437370.1:c.-16C>G, XM_047437358.1:c.312C>G, XM_047437359.1:c.312C>G, XM_047437360.1:c.312C>G, XM_047437362.1:c.312C>G, XM_047437363.1:c.312C>G, XM_047437365.1:c.312C>G, XM_047437379.1:c.-16C>G, XM_047437373.1:c.312C>G, XM_047437371.1:c.312C>G, XM_047437375.1:c.312C>G, XM_047437374.1:c.312C>G, XM_047437376.1:c.312C>G, XM_047437377.1:c.312C>G

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