U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 718

1.

rs1490681528 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    6:85543661 (GRCh38)
    6:86253379 (GRCh37)
    Canonical SPDI:
    NC_000006.12:85543660:T:C
    Gene:
    SNX14 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant
    HGVS:
    NC_000006.12:g.85543661T>C, NC_000006.11:g.86253379T>C, NG_047171.1:g.55496A>G, NM_153816.6:c.1208A>G, NM_153816.5:c.1208A>G, NM_153816.4:c.1208A>G, NM_153816.3:c.1208A>G, NM_020468.6:c.1076A>G, NM_020468.5:c.1076A>G, NM_020468.4:c.1076A>G, NM_020468.3:c.1076A>G, NM_001297614.3:c.1208A>G, NM_001297614.2:c.1208A>G, NM_001297614.1:c.1208A>G, NR_146778.2:n.1348A>G, NR_146778.1:n.1646A>G, NR_146779.2:n.1345A>G, NR_146779.1:n.1643A>G, NR_146777.2:n.1344A>G, NR_146777.1:n.1642A>G, NR_146776.2:n.1216A>G, NR_146776.1:n.1514A>G, NM_001350532.2:c.1271A>G, NM_001350532.1:c.1271A>G, NM_001350552.2:c.53A>G, NM_001350552.1:c.53A>G, NR_146775.2:n.1093A>G, NR_146775.1:n.1391A>G, NM_001350533.2:c.1205A>G, NM_001350533.1:c.1205A>G, NR_146774.2:n.1090A>G, NR_146774.1:n.1388A>G, NM_001350550.2:c.53A>G, NM_001350550.1:c.53A>G, NM_001350534.2:c.1205A>G, NM_001350534.1:c.1205A>G, NM_001350535.2:c.1205A>G, NM_001350535.1:c.1205A>G, NM_001350545.2:c.764A>G, NM_001350545.1:c.764A>G, NM_001350551.2:c.53A>G, NM_001350551.1:c.53A>G, NM_001350536.2:c.1076A>G, NM_001350536.1:c.1076A>G, NM_001350537.2:c.1073A>G, NM_001350537.1:c.1073A>G, NM_001350548.2:c.53A>G, NM_001350548.1:c.53A>G, NM_001350538.2:c.1064A>G, NM_001350538.1:c.1064A>G, NM_001350540.2:c.1208A>G, NM_001350540.1:c.1208A>G, NM_001350541.2:c.1208A>G, NM_001350541.1:c.1208A>G, NM_001304479.2:c.1052A>G, NM_001304479.1:c.1052A>G, NM_001350539.2:c.1049A>G, NM_001350539.1:c.1049A>G, NM_001350549.2:c.53A>G, NM_001350549.1:c.53A>G, NM_001350553.2:c.53A>G, NM_001350553.1:c.53A>G, NM_001350546.2:c.764A>G, NM_001350546.1:c.764A>G, NM_001350547.2:c.158A>G, NM_001350547.1:c.158A>G, NM_001350542.2:c.920A>G, NM_001350542.1:c.920A>G, NM_001350543.2:c.917A>G, NM_001350543.1:c.917A>G, NM_001350544.2:c.908A>G, NM_001350544.1:c.908A>G, XM_011535977.3:c.1208A>G, XM_011535977.2:c.1052A>G, XM_011535977.1:c.1052A>G, XM_017011090.2:c.1049A>G, XM_017011090.1:c.1049A>G, XM_047419120.1:c.1052A>G, NR_123729.1:n.1367A>G, XM_047419121.1:c.1073A>G, XM_047419122.1:c.1052A>G, XM_047419124.1:c.1049A>G, XM_047419123.1:c.1052A>G, XM_047419125.1:c.1208A>G, XM_047419126.1:c.920A>G, XM_047419129.1:c.917A>G, XM_047419127.1:c.920A>G, XM_047419128.1:c.917A>G, NP_722523.1:p.Asp403Gly, NP_065201.1:p.Asp359Gly, NP_001284543.1:p.Asp403Gly, NP_001337461.1:p.Asp424Gly, NP_001337481.1:p.Asp18Gly, NP_001337462.1:p.Asp402Gly, NP_001337479.1:p.Asp18Gly, NP_001337463.1:p.Asp402Gly, NP_001337464.1:p.Asp402Gly, NP_001337474.1:p.Asp255Gly, NP_001337480.1:p.Asp18Gly, NP_001337465.1:p.Asp359Gly, NP_001337466.1:p.Asp358Gly, NP_001337477.1:p.Asp18Gly, NP_001337467.1:p.Asp355Gly, NP_001337469.1:p.Asp403Gly, NP_001337470.1:p.Asp403Gly, NP_001291408.1:p.Asp351Gly, NP_001337468.1:p.Asp350Gly, NP_001337478.1:p.Asp18Gly, NP_001337482.1:p.Asp18Gly, NP_001337475.1:p.Asp255Gly, NP_001337476.1:p.Asp53Gly, NP_001337471.1:p.Asp307Gly, NP_001337472.1:p.Asp306Gly, NP_001337473.1:p.Asp303Gly, XP_011534279.2:p.Asp403Gly, XP_016866579.1:p.Asp350Gly, XP_047275076.1:p.Asp351Gly, XP_047275077.1:p.Asp358Gly, XP_047275078.1:p.Asp351Gly, XP_047275080.1:p.Asp350Gly, XP_047275079.1:p.Asp351Gly, XP_047275081.1:p.Asp403Gly, XP_047275082.1:p.Asp307Gly, XP_047275085.1:p.Asp306Gly, XP_047275083.1:p.Asp307Gly, XP_047275084.1:p.Asp306Gly

    2.

    rs1490191445 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      6:85542020 (GRCh38)
      6:86251738 (GRCh37)
      Canonical SPDI:
      NC_000006.12:85542019:A:G
      Gene:
      SNX14 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000006.12:g.85542020A>G, NC_000006.11:g.86251738A>G, NG_047171.1:g.57137T>C, NM_153816.6:c.1413T>C, NM_153816.5:c.1413T>C, NM_153816.4:c.1413T>C, NM_153816.3:c.1413T>C, NM_020468.6:c.1281T>C, NM_020468.5:c.1281T>C, NM_020468.4:c.1281T>C, NM_020468.3:c.1281T>C, NM_001297614.3:c.1413T>C, NM_001297614.2:c.1413T>C, NM_001297614.1:c.1413T>C, NR_146778.2:n.1553T>C, NR_146778.1:n.1851T>C, NR_146779.2:n.1550T>C, NR_146779.1:n.1848T>C, NR_146777.2:n.1549T>C, NR_146777.1:n.1847T>C, NR_146776.2:n.1421T>C, NR_146776.1:n.1719T>C, NM_001350532.2:c.1476T>C, NM_001350532.1:c.1476T>C, NM_001350552.2:c.258T>C, NM_001350552.1:c.258T>C, NR_146775.2:n.1298T>C, NR_146775.1:n.1596T>C, NM_001350533.2:c.1410T>C, NM_001350533.1:c.1410T>C, NR_146774.2:n.1295T>C, NR_146774.1:n.1593T>C, NM_001350550.2:c.258T>C, NM_001350550.1:c.258T>C, NM_001350534.2:c.1410T>C, NM_001350534.1:c.1410T>C, NM_001350535.2:c.1410T>C, NM_001350535.1:c.1410T>C, NM_001350545.2:c.969T>C, NM_001350545.1:c.969T>C, NM_001350551.2:c.258T>C, NM_001350551.1:c.258T>C, NM_001350536.2:c.1281T>C, NM_001350536.1:c.1281T>C, NM_001350537.2:c.1278T>C, NM_001350537.1:c.1278T>C, NM_001350548.2:c.258T>C, NM_001350548.1:c.258T>C, NM_001350538.2:c.1269T>C, NM_001350538.1:c.1269T>C, NM_001350540.2:c.1413T>C, NM_001350540.1:c.1413T>C, NM_001350541.2:c.1413T>C, NM_001350541.1:c.1413T>C, NM_001304479.2:c.1257T>C, NM_001304479.1:c.1257T>C, NM_001350539.2:c.1254T>C, NM_001350539.1:c.1254T>C, NM_001350549.2:c.258T>C, NM_001350549.1:c.258T>C, NM_001350553.2:c.258T>C, NM_001350553.1:c.258T>C, NM_001350546.2:c.969T>C, NM_001350546.1:c.969T>C, NM_001350547.2:c.363T>C, NM_001350547.1:c.363T>C, NM_001350542.2:c.1125T>C, NM_001350542.1:c.1125T>C, NM_001350543.2:c.1122T>C, NM_001350543.1:c.1122T>C, NM_001350544.2:c.1113T>C, NM_001350544.1:c.1113T>C, XM_011535977.3:c.1413T>C, XM_011535977.2:c.1257T>C, XM_011535977.1:c.1257T>C, XM_017011090.2:c.1254T>C, XM_017011090.1:c.1254T>C, XM_047419120.1:c.1257T>C, NR_123729.1:n.1572T>C, XM_047419121.1:c.1278T>C, XM_047419122.1:c.1257T>C, XM_047419124.1:c.1254T>C, XM_047419123.1:c.1257T>C, XM_047419125.1:c.1413T>C, XM_047419126.1:c.1125T>C, XM_047419129.1:c.1122T>C, XM_047419127.1:c.1125T>C, XM_047419128.1:c.1122T>C

      3.

      rs1489656121 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        6:85543757 (GRCh38)
        6:86253475 (GRCh37)
        Canonical SPDI:
        NC_000006.12:85543756:T:C
        Gene:
        SNX14 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000005/1 (GnomAD_exomes)
        C=0.000007/1 (GnomAD)
        HGVS:
        NC_000006.12:g.85543757T>C, NC_000006.11:g.86253475T>C, NG_047171.1:g.55400A>G, NM_153816.6:c.1112A>G, NM_153816.5:c.1112A>G, NM_153816.4:c.1112A>G, NM_153816.3:c.1112A>G, NM_020468.6:c.980A>G, NM_020468.5:c.980A>G, NM_020468.4:c.980A>G, NM_020468.3:c.980A>G, NM_001297614.3:c.1112A>G, NM_001297614.2:c.1112A>G, NM_001297614.1:c.1112A>G, NR_146778.2:n.1252A>G, NR_146778.1:n.1550A>G, NR_146779.2:n.1249A>G, NR_146779.1:n.1547A>G, NR_146777.2:n.1248A>G, NR_146777.1:n.1546A>G, NR_146776.2:n.1120A>G, NR_146776.1:n.1418A>G, NM_001350532.2:c.1175A>G, NM_001350532.1:c.1175A>G, NM_001350552.2:c.-44A>G, NM_001350552.1:c.-44A>G, NR_146775.2:n.997A>G, NR_146775.1:n.1295A>G, NM_001350533.2:c.1109A>G, NM_001350533.1:c.1109A>G, NR_146774.2:n.994A>G, NR_146774.1:n.1292A>G, NM_001350550.2:c.-44A>G, NM_001350550.1:c.-44A>G, NM_001350534.2:c.1109A>G, NM_001350534.1:c.1109A>G, NM_001350535.2:c.1109A>G, NM_001350535.1:c.1109A>G, NM_001350545.2:c.668A>G, NM_001350545.1:c.668A>G, NM_001350551.2:c.-44A>G, NM_001350551.1:c.-44A>G, NM_001350536.2:c.980A>G, NM_001350536.1:c.980A>G, NM_001350537.2:c.977A>G, NM_001350537.1:c.977A>G, NM_001350548.2:c.-44A>G, NM_001350548.1:c.-44A>G, NM_001350538.2:c.968A>G, NM_001350538.1:c.968A>G, NM_001350540.2:c.1112A>G, NM_001350540.1:c.1112A>G, NM_001350541.2:c.1112A>G, NM_001350541.1:c.1112A>G, NM_001304479.2:c.956A>G, NM_001304479.1:c.956A>G, NM_001350539.2:c.953A>G, NM_001350539.1:c.953A>G, NM_001350549.2:c.-44A>G, NM_001350549.1:c.-44A>G, NM_001350553.2:c.-44A>G, NM_001350553.1:c.-44A>G, NM_001350546.2:c.668A>G, NM_001350546.1:c.668A>G, NM_001350547.2:c.62A>G, NM_001350547.1:c.62A>G, NM_001350542.2:c.824A>G, NM_001350542.1:c.824A>G, NM_001350543.2:c.821A>G, NM_001350543.1:c.821A>G, NM_001350544.2:c.812A>G, NM_001350544.1:c.812A>G, XM_011535977.3:c.1112A>G, XM_011535977.2:c.956A>G, XM_011535977.1:c.956A>G, XM_017011090.2:c.953A>G, XM_017011090.1:c.953A>G, XM_047419120.1:c.956A>G, NR_123729.1:n.1271A>G, XM_047419121.1:c.977A>G, XM_047419122.1:c.956A>G, XM_047419124.1:c.953A>G, XM_047419123.1:c.956A>G, XM_047419125.1:c.1112A>G, XM_047419126.1:c.824A>G, XM_047419129.1:c.821A>G, XM_047419127.1:c.824A>G, XM_047419128.1:c.821A>G, NP_722523.1:p.Glu371Gly, NP_065201.1:p.Glu327Gly, NP_001284543.1:p.Glu371Gly, NP_001337461.1:p.Glu392Gly, NP_001337462.1:p.Glu370Gly, NP_001337463.1:p.Glu370Gly, NP_001337464.1:p.Glu370Gly, NP_001337474.1:p.Glu223Gly, NP_001337465.1:p.Glu327Gly, NP_001337466.1:p.Glu326Gly, NP_001337467.1:p.Glu323Gly, NP_001337469.1:p.Glu371Gly, NP_001337470.1:p.Glu371Gly, NP_001291408.1:p.Glu319Gly, NP_001337468.1:p.Glu318Gly, NP_001337475.1:p.Glu223Gly, NP_001337476.1:p.Glu21Gly, NP_001337471.1:p.Glu275Gly, NP_001337472.1:p.Glu274Gly, NP_001337473.1:p.Glu271Gly, XP_011534279.2:p.Glu371Gly, XP_016866579.1:p.Glu318Gly, XP_047275076.1:p.Glu319Gly, XP_047275077.1:p.Glu326Gly, XP_047275078.1:p.Glu319Gly, XP_047275080.1:p.Glu318Gly, XP_047275079.1:p.Glu319Gly, XP_047275081.1:p.Glu371Gly, XP_047275082.1:p.Glu275Gly, XP_047275085.1:p.Glu274Gly, XP_047275083.1:p.Glu275Gly, XP_047275084.1:p.Glu274Gly

        4.

        rs1486780172 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          6:85517826 (GRCh38)
          6:86227544 (GRCh37)
          Canonical SPDI:
          NC_000006.12:85517825:T:C
          Gene:
          SNX14 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000006.12:g.85517826T>C, NC_000006.11:g.86227544T>C, NG_047171.1:g.81331A>G, NM_153816.6:c.2198A>G, NM_153816.5:c.2198A>G, NM_153816.4:c.2198A>G, NM_153816.3:c.2198A>G, NM_020468.6:c.2039A>G, NM_020468.5:c.2039A>G, NM_020468.4:c.2039A>G, NM_020468.3:c.2039A>G, NM_001297614.3:c.2171A>G, NM_001297614.2:c.2171A>G, NM_001297614.1:c.2171A>G, NR_146778.2:n.2338A>G, NR_146778.1:n.2636A>G, NR_146779.2:n.2335A>G, NR_146779.1:n.2633A>G, NR_146777.2:n.2334A>G, NR_146777.1:n.2632A>G, NR_146776.2:n.2206A>G, NR_146776.1:n.2504A>G, NM_001350532.2:c.2261A>G, NM_001350532.1:c.2261A>G, NM_001350552.2:c.1043A>G, NM_001350552.1:c.1043A>G, NR_146775.2:n.2083A>G, NR_146775.1:n.2381A>G, NM_001350533.2:c.2195A>G, NM_001350533.1:c.2195A>G, NR_146774.2:n.2080A>G, NR_146774.1:n.2378A>G, NM_001350550.2:c.1043A>G, NM_001350550.1:c.1043A>G, NM_001350534.2:c.2168A>G, NM_001350534.1:c.2168A>G, NM_001350535.2:c.2195A>G, NM_001350535.1:c.2195A>G, NM_001350545.2:c.1754A>G, NM_001350545.1:c.1754A>G, NM_001350551.2:c.1043A>G, NM_001350551.1:c.1043A>G, NM_001350536.2:c.2066A>G, NM_001350536.1:c.2066A>G, NM_001350537.2:c.2063A>G, NM_001350537.1:c.2063A>G, NM_001350548.2:c.1043A>G, NM_001350548.1:c.1043A>G, NM_001350538.2:c.2054A>G, NM_001350538.1:c.2054A>G, NM_001350540.2:c.2198A>G, NM_001350540.1:c.2198A>G, NM_001350541.2:c.2171A>G, NM_001350541.1:c.2171A>G, NM_001304479.2:c.2042A>G, NM_001304479.1:c.2042A>G, NM_001350539.2:c.2039A>G, NM_001350539.1:c.2039A>G, NM_001350549.2:c.1043A>G, NM_001350549.1:c.1043A>G, NM_001350553.2:c.1016A>G, NM_001350553.1:c.1016A>G, NM_001350546.2:c.1754A>G, NM_001350546.1:c.1754A>G, NM_001350547.2:c.1148A>G, NM_001350547.1:c.1148A>G, NM_001350542.2:c.1910A>G, NM_001350542.1:c.1910A>G, NM_001350543.2:c.1907A>G, NM_001350543.1:c.1907A>G, NM_001350544.2:c.1898A>G, NM_001350544.1:c.1898A>G, XM_011535977.3:c.2198A>G, XM_011535977.2:c.2042A>G, XM_011535977.1:c.2042A>G, XM_017011090.2:c.2039A>G, XM_017011090.1:c.2039A>G, XM_047419120.1:c.2042A>G, NR_123729.1:n.2357A>G, XM_047419121.1:c.2036A>G, XM_047419122.1:c.2015A>G, XM_047419124.1:c.2012A>G, XM_047419123.1:c.2015A>G, XM_047419125.1:c.2171A>G, XM_047419126.1:c.1910A>G, XM_047419129.1:c.1880A>G, XM_047419127.1:c.1883A>G, XM_047419128.1:c.1880A>G, NP_722523.1:p.Glu733Gly, NP_065201.1:p.Glu680Gly, NP_001284543.1:p.Glu724Gly, NP_001337461.1:p.Glu754Gly, NP_001337481.1:p.Glu348Gly, NP_001337462.1:p.Glu732Gly, NP_001337479.1:p.Glu348Gly, NP_001337463.1:p.Glu723Gly, NP_001337464.1:p.Glu732Gly, NP_001337474.1:p.Glu585Gly, NP_001337480.1:p.Glu348Gly, NP_001337465.1:p.Glu689Gly, NP_001337466.1:p.Glu688Gly, NP_001337477.1:p.Glu348Gly, NP_001337467.1:p.Glu685Gly, NP_001337469.1:p.Glu733Gly, NP_001337470.1:p.Glu724Gly, NP_001291408.1:p.Glu681Gly, NP_001337468.1:p.Glu680Gly, NP_001337478.1:p.Glu348Gly, NP_001337482.1:p.Glu339Gly, NP_001337475.1:p.Glu585Gly, NP_001337476.1:p.Glu383Gly, NP_001337471.1:p.Glu637Gly, NP_001337472.1:p.Glu636Gly, NP_001337473.1:p.Glu633Gly, XP_011534279.2:p.Glu733Gly, XP_016866579.1:p.Glu680Gly, XP_047275076.1:p.Glu681Gly, XP_047275077.1:p.Glu679Gly, XP_047275078.1:p.Glu672Gly, XP_047275080.1:p.Glu671Gly, XP_047275079.1:p.Glu672Gly, XP_047275081.1:p.Glu724Gly, XP_047275082.1:p.Glu637Gly, XP_047275085.1:p.Glu627Gly, XP_047275083.1:p.Glu628Gly, XP_047275084.1:p.Glu627Gly

          5.

          rs1486766443 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            6:85514190 (GRCh38)
            6:86223908 (GRCh37)
            Canonical SPDI:
            NC_000006.12:85514189:T:C
            Gene:
            SNX14 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000006.12:g.85514190T>C, NC_000006.11:g.86223908T>C, NG_047171.1:g.84967A>G, NM_153816.6:c.2437A>G, NM_153816.5:c.2437A>G, NM_153816.4:c.2437A>G, NM_153816.3:c.2437A>G, NM_020468.6:c.2278A>G, NM_020468.5:c.2278A>G, NM_020468.4:c.2278A>G, NM_020468.3:c.2278A>G, NM_001297614.3:c.2410A>G, NM_001297614.2:c.2410A>G, NM_001297614.1:c.2410A>G, NR_146778.2:n.2577A>G, NR_146778.1:n.2875A>G, NR_146779.2:n.2574A>G, NR_146779.1:n.2872A>G, NR_146777.2:n.2573A>G, NR_146777.1:n.2871A>G, NR_146776.2:n.2445A>G, NR_146776.1:n.2743A>G, NM_001350532.2:c.2500A>G, NM_001350532.1:c.2500A>G, NM_001350552.2:c.1282A>G, NM_001350552.1:c.1282A>G, NR_146775.2:n.2322A>G, NR_146775.1:n.2620A>G, NM_001350533.2:c.2434A>G, NM_001350533.1:c.2434A>G, NR_146774.2:n.2319A>G, NR_146774.1:n.2617A>G, NM_001350550.2:c.1282A>G, NM_001350550.1:c.1282A>G, NM_001350534.2:c.2407A>G, NM_001350534.1:c.2407A>G, NM_001350535.2:c.2434A>G, NM_001350535.1:c.2434A>G, NM_001350545.2:c.1993A>G, NM_001350545.1:c.1993A>G, NM_001350551.2:c.1282A>G, NM_001350551.1:c.1282A>G, NM_001350536.2:c.2305A>G, NM_001350536.1:c.2305A>G, NM_001350537.2:c.2302A>G, NM_001350537.1:c.2302A>G, NM_001350548.2:c.1282A>G, NM_001350548.1:c.1282A>G, NM_001350538.2:c.2293A>G, NM_001350538.1:c.2293A>G, NM_001304479.2:c.2281A>G, NM_001304479.1:c.2281A>G, NM_001350539.2:c.2278A>G, NM_001350539.1:c.2278A>G, NM_001350549.2:c.1282A>G, NM_001350549.1:c.1282A>G, NM_001350553.2:c.1255A>G, NM_001350553.1:c.1255A>G, NM_001350546.2:c.1993A>G, NM_001350546.1:c.1993A>G, NM_001350547.2:c.1387A>G, NM_001350547.1:c.1387A>G, NM_001350542.2:c.2149A>G, NM_001350542.1:c.2149A>G, NM_001350543.2:c.2146A>G, NM_001350543.1:c.2146A>G, NM_001350544.2:c.2137A>G, NM_001350544.1:c.2137A>G, XM_011535977.3:c.2437A>G, XM_011535977.2:c.2281A>G, XM_011535977.1:c.2281A>G, XM_017011090.2:c.2278A>G, XM_017011090.1:c.2278A>G, XM_047419120.1:c.2281A>G, NR_123729.1:n.2596A>G, XM_047419121.1:c.2275A>G, XM_047419122.1:c.2254A>G, XM_047419124.1:c.2251A>G, XM_047419123.1:c.2254A>G, XM_047419125.1:c.2410A>G, XM_047419126.1:c.2149A>G, XM_047419129.1:c.2119A>G, XM_047419127.1:c.2122A>G, XM_047419128.1:c.2119A>G, NP_722523.1:p.Met813Val, NP_065201.1:p.Met760Val, NP_001284543.1:p.Met804Val, NP_001337461.1:p.Met834Val, NP_001337481.1:p.Met428Val, NP_001337462.1:p.Met812Val, NP_001337479.1:p.Met428Val, NP_001337463.1:p.Met803Val, NP_001337464.1:p.Met812Val, NP_001337474.1:p.Met665Val, NP_001337480.1:p.Met428Val, NP_001337465.1:p.Met769Val, NP_001337466.1:p.Met768Val, NP_001337477.1:p.Met428Val, NP_001337467.1:p.Met765Val, NP_001291408.1:p.Met761Val, NP_001337468.1:p.Met760Val, NP_001337478.1:p.Met428Val, NP_001337482.1:p.Met419Val, NP_001337475.1:p.Met665Val, NP_001337476.1:p.Met463Val, NP_001337471.1:p.Met717Val, NP_001337472.1:p.Met716Val, NP_001337473.1:p.Met713Val, XP_011534279.2:p.Met813Val, XP_016866579.1:p.Met760Val, XP_047275076.1:p.Met761Val, XP_047275077.1:p.Met759Val, XP_047275078.1:p.Met752Val, XP_047275080.1:p.Met751Val, XP_047275079.1:p.Met752Val, XP_047275081.1:p.Met804Val, XP_047275082.1:p.Met717Val, XP_047275085.1:p.Met707Val, XP_047275083.1:p.Met708Val, XP_047275084.1:p.Met707Val

            6.

            rs1485801821 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              6:85514201 (GRCh38)
              6:86223919 (GRCh37)
              Canonical SPDI:
              NC_000006.12:85514200:T:C
              Gene:
              SNX14 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000006.12:g.85514201T>C, NC_000006.11:g.86223919T>C, NG_047171.1:g.84956A>G, NM_153816.6:c.2426A>G, NM_153816.5:c.2426A>G, NM_153816.4:c.2426A>G, NM_153816.3:c.2426A>G, NM_020468.6:c.2267A>G, NM_020468.5:c.2267A>G, NM_020468.4:c.2267A>G, NM_020468.3:c.2267A>G, NM_001297614.3:c.2399A>G, NM_001297614.2:c.2399A>G, NM_001297614.1:c.2399A>G, NR_146778.2:n.2566A>G, NR_146778.1:n.2864A>G, NR_146779.2:n.2563A>G, NR_146779.1:n.2861A>G, NR_146777.2:n.2562A>G, NR_146777.1:n.2860A>G, NR_146776.2:n.2434A>G, NR_146776.1:n.2732A>G, NM_001350532.2:c.2489A>G, NM_001350532.1:c.2489A>G, NM_001350552.2:c.1271A>G, NM_001350552.1:c.1271A>G, NR_146775.2:n.2311A>G, NR_146775.1:n.2609A>G, NM_001350533.2:c.2423A>G, NM_001350533.1:c.2423A>G, NR_146774.2:n.2308A>G, NR_146774.1:n.2606A>G, NM_001350550.2:c.1271A>G, NM_001350550.1:c.1271A>G, NM_001350534.2:c.2396A>G, NM_001350534.1:c.2396A>G, NM_001350535.2:c.2423A>G, NM_001350535.1:c.2423A>G, NM_001350545.2:c.1982A>G, NM_001350545.1:c.1982A>G, NM_001350551.2:c.1271A>G, NM_001350551.1:c.1271A>G, NM_001350536.2:c.2294A>G, NM_001350536.1:c.2294A>G, NM_001350537.2:c.2291A>G, NM_001350537.1:c.2291A>G, NM_001350548.2:c.1271A>G, NM_001350548.1:c.1271A>G, NM_001350538.2:c.2282A>G, NM_001350538.1:c.2282A>G, NM_001304479.2:c.2270A>G, NM_001304479.1:c.2270A>G, NM_001350539.2:c.2267A>G, NM_001350539.1:c.2267A>G, NM_001350549.2:c.1271A>G, NM_001350549.1:c.1271A>G, NM_001350553.2:c.1244A>G, NM_001350553.1:c.1244A>G, NM_001350546.2:c.1982A>G, NM_001350546.1:c.1982A>G, NM_001350547.2:c.1376A>G, NM_001350547.1:c.1376A>G, NM_001350542.2:c.2138A>G, NM_001350542.1:c.2138A>G, NM_001350543.2:c.2135A>G, NM_001350543.1:c.2135A>G, NM_001350544.2:c.2126A>G, NM_001350544.1:c.2126A>G, XM_011535977.3:c.2426A>G, XM_011535977.2:c.2270A>G, XM_011535977.1:c.2270A>G, XM_017011090.2:c.2267A>G, XM_017011090.1:c.2267A>G, XM_047419120.1:c.2270A>G, NR_123729.1:n.2585A>G, XM_047419121.1:c.2264A>G, XM_047419122.1:c.2243A>G, XM_047419124.1:c.2240A>G, XM_047419123.1:c.2243A>G, XM_047419125.1:c.2399A>G, XM_047419126.1:c.2138A>G, XM_047419129.1:c.2108A>G, XM_047419127.1:c.2111A>G, XM_047419128.1:c.2108A>G, NP_722523.1:p.His809Arg, NP_065201.1:p.His756Arg, NP_001284543.1:p.His800Arg, NP_001337461.1:p.His830Arg, NP_001337481.1:p.His424Arg, NP_001337462.1:p.His808Arg, NP_001337479.1:p.His424Arg, NP_001337463.1:p.His799Arg, NP_001337464.1:p.His808Arg, NP_001337474.1:p.His661Arg, NP_001337480.1:p.His424Arg, NP_001337465.1:p.His765Arg, NP_001337466.1:p.His764Arg, NP_001337477.1:p.His424Arg, NP_001337467.1:p.His761Arg, NP_001291408.1:p.His757Arg, NP_001337468.1:p.His756Arg, NP_001337478.1:p.His424Arg, NP_001337482.1:p.His415Arg, NP_001337475.1:p.His661Arg, NP_001337476.1:p.His459Arg, NP_001337471.1:p.His713Arg, NP_001337472.1:p.His712Arg, NP_001337473.1:p.His709Arg, XP_011534279.2:p.His809Arg, XP_016866579.1:p.His756Arg, XP_047275076.1:p.His757Arg, XP_047275077.1:p.His755Arg, XP_047275078.1:p.His748Arg, XP_047275080.1:p.His747Arg, XP_047275079.1:p.His748Arg, XP_047275081.1:p.His800Arg, XP_047275082.1:p.His713Arg, XP_047275085.1:p.His703Arg, XP_047275083.1:p.His704Arg, XP_047275084.1:p.His703Arg

              7.

              rs1485041085 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                6:85549745 (GRCh38)
                6:86259463 (GRCh37)
                Canonical SPDI:
                NC_000006.12:85549744:G:C
                Gene:
                SNX14 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000132/2 (ALFA)
                C=0.000008/2 (TOPMED)
                C=0.000014/2 (GnomAD)
                C=0.000446/2 (Estonian)
                HGVS:
                NC_000006.12:g.85549745G>C, NC_000006.11:g.86259463G>C, NG_047171.1:g.49412C>G, NM_153816.6:c.769C>G, NM_153816.5:c.769C>G, NM_153816.4:c.769C>G, NM_153816.3:c.769C>G, NM_020468.6:c.637C>G, NM_020468.5:c.637C>G, NM_020468.4:c.637C>G, NM_020468.3:c.637C>G, NM_001297614.3:c.769C>G, NM_001297614.2:c.769C>G, NM_001297614.1:c.769C>G, NR_146778.2:n.909C>G, NR_146778.1:n.1207C>G, NR_146779.2:n.906C>G, NR_146779.1:n.1204C>G, NR_146777.2:n.909C>G, NR_146777.1:n.1207C>G, NR_146776.2:n.777C>G, NR_146776.1:n.1075C>G, NM_001350532.2:c.832C>G, NM_001350532.1:c.832C>G, NM_001350552.2:c.-415C>G, NM_001350552.1:c.-415C>G, NR_146775.2:n.654C>G, NR_146775.1:n.952C>G, NM_001350533.2:c.766C>G, NM_001350533.1:c.766C>G, NR_146774.2:n.651C>G, NR_146774.1:n.949C>G, NM_001350550.2:c.-383C>G, NM_001350550.1:c.-383C>G, NM_001350534.2:c.766C>G, NM_001350534.1:c.766C>G, NM_001350535.2:c.766C>G, NM_001350535.1:c.766C>G, NM_001350545.2:c.325C>G, NM_001350545.1:c.325C>G, NM_001350551.2:c.-383C>G, NM_001350551.1:c.-383C>G, NM_001350536.2:c.637C>G, NM_001350536.1:c.637C>G, NM_001350537.2:c.634C>G, NM_001350537.1:c.634C>G, NM_001350548.2:c.-383C>G, NM_001350548.1:c.-383C>G, NM_001350540.2:c.769C>G, NM_001350540.1:c.769C>G, NM_001350541.2:c.769C>G, NM_001350541.1:c.769C>G, NM_001304479.2:c.613C>G, NM_001304479.1:c.613C>G, NM_001350539.2:c.610C>G, NM_001350539.1:c.610C>G, NM_001350549.2:c.-383C>G, NM_001350549.1:c.-383C>G, NM_001350553.2:c.-383C>G, NM_001350553.1:c.-383C>G, NM_001350546.2:c.325C>G, NM_001350546.1:c.325C>G, NM_001350547.2:c.-282C>G, NM_001350547.1:c.-282C>G, NM_001350542.2:c.481C>G, NM_001350542.1:c.481C>G, NM_001350543.2:c.478C>G, NM_001350543.1:c.478C>G, XM_011535977.3:c.769C>G, XM_011535977.2:c.613C>G, XM_011535977.1:c.613C>G, XM_017011090.2:c.610C>G, XM_017011090.1:c.610C>G, XM_047419120.1:c.613C>G, NR_123729.1:n.928C>G, XM_047419121.1:c.634C>G, XM_047419122.1:c.613C>G, XM_047419124.1:c.610C>G, XM_047419123.1:c.613C>G, XM_047419125.1:c.769C>G, XM_047419126.1:c.481C>G, XM_047419129.1:c.478C>G, XM_047419127.1:c.481C>G, XM_047419128.1:c.478C>G, NP_722523.1:p.Pro257Ala, NP_065201.1:p.Pro213Ala, NP_001284543.1:p.Pro257Ala, NP_001337461.1:p.Pro278Ala, NP_001337462.1:p.Pro256Ala, NP_001337463.1:p.Pro256Ala, NP_001337464.1:p.Pro256Ala, NP_001337474.1:p.Pro109Ala, NP_001337465.1:p.Pro213Ala, NP_001337466.1:p.Pro212Ala, NP_001337469.1:p.Pro257Ala, NP_001337470.1:p.Pro257Ala, NP_001291408.1:p.Pro205Ala, NP_001337468.1:p.Pro204Ala, NP_001337475.1:p.Pro109Ala, NP_001337471.1:p.Pro161Ala, NP_001337472.1:p.Pro160Ala, XP_011534279.2:p.Pro257Ala, XP_016866579.1:p.Pro204Ala, XP_047275076.1:p.Pro205Ala, XP_047275077.1:p.Pro212Ala, XP_047275078.1:p.Pro205Ala, XP_047275080.1:p.Pro204Ala, XP_047275079.1:p.Pro205Ala, XP_047275081.1:p.Pro257Ala, XP_047275082.1:p.Pro161Ala, XP_047275085.1:p.Pro160Ala, XP_047275083.1:p.Pro161Ala, XP_047275084.1:p.Pro160Ala

                8.

                rs1484305964 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  6:85533616 (GRCh38)
                  6:86243334 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:85533615:C:A
                  Gene:
                  SNX14 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000006.12:g.85533616C>A, NC_000006.11:g.86243334C>A, NG_047171.1:g.65541G>T, NM_153816.6:c.1793G>T, NM_153816.5:c.1793G>T, NM_153816.4:c.1793G>T, NM_153816.3:c.1793G>T, NM_020468.6:c.1634G>T, NM_020468.5:c.1634G>T, NM_020468.4:c.1634G>T, NM_020468.3:c.1634G>T, NM_001297614.3:c.1766G>T, NM_001297614.2:c.1766G>T, NM_001297614.1:c.1766G>T, NR_146778.2:n.1933G>T, NR_146778.1:n.2231G>T, NR_146779.2:n.1930G>T, NR_146779.1:n.2228G>T, NR_146777.2:n.1929G>T, NR_146777.1:n.2227G>T, NR_146776.2:n.1801G>T, NR_146776.1:n.2099G>T, NM_001350532.2:c.1856G>T, NM_001350532.1:c.1856G>T, NM_001350552.2:c.638G>T, NM_001350552.1:c.638G>T, NR_146775.2:n.1678G>T, NR_146775.1:n.1976G>T, NM_001350533.2:c.1790G>T, NM_001350533.1:c.1790G>T, NR_146774.2:n.1675G>T, NR_146774.1:n.1973G>T, NM_001350550.2:c.638G>T, NM_001350550.1:c.638G>T, NM_001350534.2:c.1763G>T, NM_001350534.1:c.1763G>T, NM_001350535.2:c.1790G>T, NM_001350535.1:c.1790G>T, NM_001350545.2:c.1349G>T, NM_001350545.1:c.1349G>T, NM_001350551.2:c.638G>T, NM_001350551.1:c.638G>T, NM_001350536.2:c.1661G>T, NM_001350536.1:c.1661G>T, NM_001350537.2:c.1658G>T, NM_001350537.1:c.1658G>T, NM_001350548.2:c.638G>T, NM_001350548.1:c.638G>T, NM_001350538.2:c.1649G>T, NM_001350538.1:c.1649G>T, NM_001350540.2:c.1793G>T, NM_001350540.1:c.1793G>T, NM_001350541.2:c.1766G>T, NM_001350541.1:c.1766G>T, NM_001304479.2:c.1637G>T, NM_001304479.1:c.1637G>T, NM_001350539.2:c.1634G>T, NM_001350539.1:c.1634G>T, NM_001350549.2:c.638G>T, NM_001350549.1:c.638G>T, NM_001350553.2:c.611G>T, NM_001350553.1:c.611G>T, NM_001350546.2:c.1349G>T, NM_001350546.1:c.1349G>T, NM_001350547.2:c.743G>T, NM_001350547.1:c.743G>T, NM_001350542.2:c.1505G>T, NM_001350542.1:c.1505G>T, NM_001350543.2:c.1502G>T, NM_001350543.1:c.1502G>T, NM_001350544.2:c.1493G>T, NM_001350544.1:c.1493G>T, XM_011535977.3:c.1793G>T, XM_011535977.2:c.1637G>T, XM_011535977.1:c.1637G>T, XM_017011090.2:c.1634G>T, XM_017011090.1:c.1634G>T, XM_047419120.1:c.1637G>T, NR_123729.1:n.1952G>T, XM_047419121.1:c.1631G>T, XM_047419122.1:c.1610G>T, XM_047419124.1:c.1607G>T, XM_047419123.1:c.1610G>T, XM_047419125.1:c.1766G>T, XM_047419126.1:c.1505G>T, XM_047419129.1:c.1475G>T, XM_047419127.1:c.1478G>T, XM_047419128.1:c.1475G>T, NP_722523.1:p.Arg598Ile, NP_065201.1:p.Arg545Ile, NP_001284543.1:p.Arg589Ile, NP_001337461.1:p.Arg619Ile, NP_001337481.1:p.Arg213Ile, NP_001337462.1:p.Arg597Ile, NP_001337479.1:p.Arg213Ile, NP_001337463.1:p.Arg588Ile, NP_001337464.1:p.Arg597Ile, NP_001337474.1:p.Arg450Ile, NP_001337480.1:p.Arg213Ile, NP_001337465.1:p.Arg554Ile, NP_001337466.1:p.Arg553Ile, NP_001337477.1:p.Arg213Ile, NP_001337467.1:p.Arg550Ile, NP_001337469.1:p.Arg598Ile, NP_001337470.1:p.Arg589Ile, NP_001291408.1:p.Arg546Ile, NP_001337468.1:p.Arg545Ile, NP_001337478.1:p.Arg213Ile, NP_001337482.1:p.Arg204Ile, NP_001337475.1:p.Arg450Ile, NP_001337476.1:p.Arg248Ile, NP_001337471.1:p.Arg502Ile, NP_001337472.1:p.Arg501Ile, NP_001337473.1:p.Arg498Ile, XP_011534279.2:p.Arg598Ile, XP_016866579.1:p.Arg545Ile, XP_047275076.1:p.Arg546Ile, XP_047275077.1:p.Arg544Ile, XP_047275078.1:p.Arg537Ile, XP_047275080.1:p.Arg536Ile, XP_047275079.1:p.Arg537Ile, XP_047275081.1:p.Arg589Ile, XP_047275082.1:p.Arg502Ile, XP_047275085.1:p.Arg492Ile, XP_047275083.1:p.Arg493Ile, XP_047275084.1:p.Arg492Ile

                  9.

                  rs1483279274 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    6:85542031 (GRCh38)
                    6:86251749 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:85542030:G:A
                    Gene:
                    SNX14 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.00055/1 (Korea1K)
                    HGVS:
                    NC_000006.12:g.85542031G>A, NC_000006.11:g.86251749G>A, NG_047171.1:g.57126C>T, NM_153816.6:c.1402C>T, NM_153816.5:c.1402C>T, NM_153816.4:c.1402C>T, NM_153816.3:c.1402C>T, NM_020468.6:c.1270C>T, NM_020468.5:c.1270C>T, NM_020468.4:c.1270C>T, NM_020468.3:c.1270C>T, NM_001297614.3:c.1402C>T, NM_001297614.2:c.1402C>T, NM_001297614.1:c.1402C>T, NR_146778.2:n.1542C>T, NR_146778.1:n.1840C>T, NR_146779.2:n.1539C>T, NR_146779.1:n.1837C>T, NR_146777.2:n.1538C>T, NR_146777.1:n.1836C>T, NR_146776.2:n.1410C>T, NR_146776.1:n.1708C>T, NM_001350532.2:c.1465C>T, NM_001350532.1:c.1465C>T, NM_001350552.2:c.247C>T, NM_001350552.1:c.247C>T, NR_146775.2:n.1287C>T, NR_146775.1:n.1585C>T, NM_001350533.2:c.1399C>T, NM_001350533.1:c.1399C>T, NR_146774.2:n.1284C>T, NR_146774.1:n.1582C>T, NM_001350550.2:c.247C>T, NM_001350550.1:c.247C>T, NM_001350534.2:c.1399C>T, NM_001350534.1:c.1399C>T, NM_001350535.2:c.1399C>T, NM_001350535.1:c.1399C>T, NM_001350545.2:c.958C>T, NM_001350545.1:c.958C>T, NM_001350551.2:c.247C>T, NM_001350551.1:c.247C>T, NM_001350536.2:c.1270C>T, NM_001350536.1:c.1270C>T, NM_001350537.2:c.1267C>T, NM_001350537.1:c.1267C>T, NM_001350548.2:c.247C>T, NM_001350548.1:c.247C>T, NM_001350538.2:c.1258C>T, NM_001350538.1:c.1258C>T, NM_001350540.2:c.1402C>T, NM_001350540.1:c.1402C>T, NM_001350541.2:c.1402C>T, NM_001350541.1:c.1402C>T, NM_001304479.2:c.1246C>T, NM_001304479.1:c.1246C>T, NM_001350539.2:c.1243C>T, NM_001350539.1:c.1243C>T, NM_001350549.2:c.247C>T, NM_001350549.1:c.247C>T, NM_001350553.2:c.247C>T, NM_001350553.1:c.247C>T, NM_001350546.2:c.958C>T, NM_001350546.1:c.958C>T, NM_001350547.2:c.352C>T, NM_001350547.1:c.352C>T, NM_001350542.2:c.1114C>T, NM_001350542.1:c.1114C>T, NM_001350543.2:c.1111C>T, NM_001350543.1:c.1111C>T, NM_001350544.2:c.1102C>T, NM_001350544.1:c.1102C>T, XM_011535977.3:c.1402C>T, XM_011535977.2:c.1246C>T, XM_011535977.1:c.1246C>T, XM_017011090.2:c.1243C>T, XM_017011090.1:c.1243C>T, XM_047419120.1:c.1246C>T, NR_123729.1:n.1561C>T, XM_047419121.1:c.1267C>T, XM_047419122.1:c.1246C>T, XM_047419124.1:c.1243C>T, XM_047419123.1:c.1246C>T, XM_047419125.1:c.1402C>T, XM_047419126.1:c.1114C>T, XM_047419129.1:c.1111C>T, XM_047419127.1:c.1114C>T, XM_047419128.1:c.1111C>T, NP_722523.1:p.Leu468Phe, NP_065201.1:p.Leu424Phe, NP_001284543.1:p.Leu468Phe, NP_001337461.1:p.Leu489Phe, NP_001337481.1:p.Leu83Phe, NP_001337462.1:p.Leu467Phe, NP_001337479.1:p.Leu83Phe, NP_001337463.1:p.Leu467Phe, NP_001337464.1:p.Leu467Phe, NP_001337474.1:p.Leu320Phe, NP_001337480.1:p.Leu83Phe, NP_001337465.1:p.Leu424Phe, NP_001337466.1:p.Leu423Phe, NP_001337477.1:p.Leu83Phe, NP_001337467.1:p.Leu420Phe, NP_001337469.1:p.Leu468Phe, NP_001337470.1:p.Leu468Phe, NP_001291408.1:p.Leu416Phe, NP_001337468.1:p.Leu415Phe, NP_001337478.1:p.Leu83Phe, NP_001337482.1:p.Leu83Phe, NP_001337475.1:p.Leu320Phe, NP_001337476.1:p.Leu118Phe, NP_001337471.1:p.Leu372Phe, NP_001337472.1:p.Leu371Phe, NP_001337473.1:p.Leu368Phe, XP_011534279.2:p.Leu468Phe, XP_016866579.1:p.Leu415Phe, XP_047275076.1:p.Leu416Phe, XP_047275077.1:p.Leu423Phe, XP_047275078.1:p.Leu416Phe, XP_047275080.1:p.Leu415Phe, XP_047275079.1:p.Leu416Phe, XP_047275081.1:p.Leu468Phe, XP_047275082.1:p.Leu372Phe, XP_047275085.1:p.Leu371Phe, XP_047275083.1:p.Leu372Phe, XP_047275084.1:p.Leu371Phe

                    10.

                    rs1482171621 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      6:85536837 (GRCh38)
                      6:86246555 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:85536836:T:C
                      Gene:
                      SNX14 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000011/3 (TOPMED)
                      HGVS:
                      NC_000006.12:g.85536837T>C, NC_000006.11:g.86246555T>C, NG_047171.1:g.62320A>G, NM_153816.6:c.1563A>G, NM_153816.5:c.1563A>G, NM_153816.4:c.1563A>G, NM_153816.3:c.1563A>G, NM_020468.6:c.1404A>G, NM_020468.5:c.1404A>G, NM_020468.4:c.1404A>G, NM_020468.3:c.1404A>G, NM_001297614.3:c.1536A>G, NM_001297614.2:c.1536A>G, NM_001297614.1:c.1536A>G, NR_146778.2:n.1703A>G, NR_146778.1:n.2001A>G, NR_146779.2:n.1700A>G, NR_146779.1:n.1998A>G, NR_146777.2:n.1699A>G, NR_146777.1:n.1997A>G, NR_146776.2:n.1571A>G, NR_146776.1:n.1869A>G, NM_001350532.2:c.1626A>G, NM_001350532.1:c.1626A>G, NM_001350552.2:c.408A>G, NM_001350552.1:c.408A>G, NR_146775.2:n.1448A>G, NR_146775.1:n.1746A>G, NM_001350533.2:c.1560A>G, NM_001350533.1:c.1560A>G, NR_146774.2:n.1445A>G, NR_146774.1:n.1743A>G, NM_001350550.2:c.408A>G, NM_001350550.1:c.408A>G, NM_001350534.2:c.1533A>G, NM_001350534.1:c.1533A>G, NM_001350535.2:c.1560A>G, NM_001350535.1:c.1560A>G, NM_001350545.2:c.1119A>G, NM_001350545.1:c.1119A>G, NM_001350551.2:c.408A>G, NM_001350551.1:c.408A>G, NM_001350536.2:c.1431A>G, NM_001350536.1:c.1431A>G, NM_001350537.2:c.1428A>G, NM_001350537.1:c.1428A>G, NM_001350548.2:c.408A>G, NM_001350548.1:c.408A>G, NM_001350538.2:c.1419A>G, NM_001350538.1:c.1419A>G, NM_001350540.2:c.1563A>G, NM_001350540.1:c.1563A>G, NM_001350541.2:c.1536A>G, NM_001350541.1:c.1536A>G, NM_001304479.2:c.1407A>G, NM_001304479.1:c.1407A>G, NM_001350539.2:c.1404A>G, NM_001350539.1:c.1404A>G, NM_001350549.2:c.408A>G, NM_001350549.1:c.408A>G, NM_001350553.2:c.381A>G, NM_001350553.1:c.381A>G, NM_001350546.2:c.1119A>G, NM_001350546.1:c.1119A>G, NM_001350547.2:c.513A>G, NM_001350547.1:c.513A>G, NM_001350542.2:c.1275A>G, NM_001350542.1:c.1275A>G, NM_001350543.2:c.1272A>G, NM_001350543.1:c.1272A>G, NM_001350544.2:c.1263A>G, NM_001350544.1:c.1263A>G, XM_011535977.3:c.1563A>G, XM_011535977.2:c.1407A>G, XM_011535977.1:c.1407A>G, XM_017011090.2:c.1404A>G, XM_017011090.1:c.1404A>G, XM_047419120.1:c.1407A>G, NR_123729.1:n.1722A>G, XM_047419121.1:c.1401A>G, XM_047419122.1:c.1380A>G, XM_047419124.1:c.1377A>G, XM_047419123.1:c.1380A>G, XM_047419125.1:c.1536A>G, XM_047419126.1:c.1275A>G, XM_047419129.1:c.1245A>G, XM_047419127.1:c.1248A>G, XM_047419128.1:c.1245A>G

                      11.

                      rs1480572818 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        6:85565367 (GRCh38)
                        6:86275085 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:85565366:A:T
                        Gene:
                        SNX14 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000011/3 (TOPMED)
                        HGVS:
                        NC_000006.12:g.85565367A>T, NC_000006.11:g.86275085A>T, NG_047171.1:g.33790T>A, NM_153816.6:c.514T>A, NM_153816.5:c.514T>A, NM_153816.4:c.514T>A, NM_153816.3:c.514T>A, NM_001297614.3:c.514T>A, NM_001297614.2:c.514T>A, NM_001297614.1:c.514T>A, NR_146778.2:n.654T>A, NR_146778.1:n.952T>A, NR_146779.2:n.651T>A, NR_146779.1:n.949T>A, NR_146777.2:n.654T>A, NR_146777.1:n.952T>A, NM_001350532.2:c.577T>A, NM_001350532.1:c.577T>A, NM_001350552.2:c.-670T>A, NM_001350552.1:c.-670T>A, NR_146775.2:n.399T>A, NR_146775.1:n.697T>A, NM_001350533.2:c.511T>A, NM_001350533.1:c.511T>A, NR_146774.2:n.396T>A, NR_146774.1:n.694T>A, NM_001350550.2:c.-638T>A, NM_001350550.1:c.-638T>A, NM_001350534.2:c.511T>A, NM_001350534.1:c.511T>A, NM_001350535.2:c.511T>A, NM_001350535.1:c.511T>A, NM_001350545.2:c.70T>A, NM_001350545.1:c.70T>A, NM_001350551.2:c.-553T>A, NM_001350551.1:c.-553T>A, NM_001350538.2:c.514T>A, NM_001350538.1:c.514T>A, NM_001350540.2:c.514T>A, NM_001350540.1:c.514T>A, NM_001350541.2:c.514T>A, NM_001350541.1:c.514T>A, NM_001304479.2:c.358T>A, NM_001304479.1:c.358T>A, NM_001350539.2:c.355T>A, NM_001350539.1:c.355T>A, NM_001350549.2:c.-638T>A, NM_001350549.1:c.-638T>A, NM_001350553.2:c.-638T>A, NM_001350553.1:c.-638T>A, NM_001350546.2:c.70T>A, NM_001350546.1:c.70T>A, NM_001350547.2:c.-452T>A, NM_001350547.1:c.-452T>A, NM_001350544.2:c.358T>A, NM_001350544.1:c.358T>A, XM_011535977.3:c.514T>A, XM_011535977.2:c.358T>A, XM_011535977.1:c.358T>A, XM_017011090.2:c.355T>A, XM_017011090.1:c.355T>A, XM_047419120.1:c.358T>A, NR_123729.1:n.673T>A, XM_047419122.1:c.358T>A, XM_047419124.1:c.355T>A, XM_047419123.1:c.358T>A, XM_047419125.1:c.514T>A, NP_722523.1:p.Phe172Ile, NP_001284543.1:p.Phe172Ile, NP_001337461.1:p.Phe193Ile, NP_001337462.1:p.Phe171Ile, NP_001337463.1:p.Phe171Ile, NP_001337464.1:p.Phe171Ile, NP_001337474.1:p.Phe24Ile, NP_001337467.1:p.Phe172Ile, NP_001337469.1:p.Phe172Ile, NP_001337470.1:p.Phe172Ile, NP_001291408.1:p.Phe120Ile, NP_001337468.1:p.Phe119Ile, NP_001337475.1:p.Phe24Ile, NP_001337473.1:p.Phe120Ile, XP_011534279.2:p.Phe172Ile, XP_016866579.1:p.Phe119Ile, XP_047275076.1:p.Phe120Ile, XP_047275078.1:p.Phe120Ile, XP_047275080.1:p.Phe119Ile, XP_047275079.1:p.Phe120Ile, XP_047275081.1:p.Phe172Ile

                        12.

                        rs1479568721 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          6:85547385 (GRCh38)
                          6:86257103 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:85547384:T:C
                          Gene:
                          SNX14 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          C=0.000106/2 (TOMMO)
                          HGVS:
                          NC_000006.12:g.85547385T>C, NC_000006.11:g.86257103T>C, NG_047171.1:g.51772A>G, NM_153816.6:c.925A>G, NM_153816.5:c.925A>G, NM_153816.4:c.925A>G, NM_153816.3:c.925A>G, NM_020468.6:c.793A>G, NM_020468.5:c.793A>G, NM_020468.4:c.793A>G, NM_020468.3:c.793A>G, NM_001297614.3:c.925A>G, NM_001297614.2:c.925A>G, NM_001297614.1:c.925A>G, NR_146778.2:n.1065A>G, NR_146778.1:n.1363A>G, NR_146779.2:n.1062A>G, NR_146779.1:n.1360A>G, NR_146777.2:n.1065A>G, NR_146777.1:n.1363A>G, NR_146776.2:n.933A>G, NR_146776.1:n.1231A>G, NM_001350532.2:c.988A>G, NM_001350532.1:c.988A>G, NM_001350552.2:c.-259A>G, NM_001350552.1:c.-259A>G, NR_146775.2:n.810A>G, NR_146775.1:n.1108A>G, NM_001350533.2:c.922A>G, NM_001350533.1:c.922A>G, NR_146774.2:n.807A>G, NR_146774.1:n.1105A>G, NM_001350550.2:c.-227A>G, NM_001350550.1:c.-227A>G, NM_001350534.2:c.922A>G, NM_001350534.1:c.922A>G, NM_001350535.2:c.922A>G, NM_001350535.1:c.922A>G, NM_001350545.2:c.481A>G, NM_001350545.1:c.481A>G, NM_001350551.2:c.-227A>G, NM_001350551.1:c.-227A>G, NM_001350536.2:c.793A>G, NM_001350536.1:c.793A>G, NM_001350537.2:c.790A>G, NM_001350537.1:c.790A>G, NM_001350548.2:c.-227A>G, NM_001350548.1:c.-227A>G, NM_001350538.2:c.781A>G, NM_001350538.1:c.781A>G, NM_001350540.2:c.925A>G, NM_001350540.1:c.925A>G, NM_001350541.2:c.925A>G, NM_001350541.1:c.925A>G, NM_001304479.2:c.769A>G, NM_001304479.1:c.769A>G, NM_001350539.2:c.766A>G, NM_001350539.1:c.766A>G, NM_001350549.2:c.-227A>G, NM_001350549.1:c.-227A>G, NM_001350553.2:c.-227A>G, NM_001350553.1:c.-227A>G, NM_001350546.2:c.481A>G, NM_001350546.1:c.481A>G, NM_001350547.2:c.-126A>G, NM_001350547.1:c.-126A>G, NM_001350542.2:c.637A>G, NM_001350542.1:c.637A>G, NM_001350543.2:c.634A>G, NM_001350543.1:c.634A>G, NM_001350544.2:c.625A>G, NM_001350544.1:c.625A>G, XM_011535977.3:c.925A>G, XM_011535977.2:c.769A>G, XM_011535977.1:c.769A>G, XM_017011090.2:c.766A>G, XM_017011090.1:c.766A>G, XM_047419120.1:c.769A>G, NR_123729.1:n.1084A>G, XM_047419121.1:c.790A>G, XM_047419122.1:c.769A>G, XM_047419124.1:c.766A>G, XM_047419123.1:c.769A>G, XM_047419125.1:c.925A>G, XM_047419126.1:c.637A>G, XM_047419129.1:c.634A>G, XM_047419127.1:c.637A>G, XM_047419128.1:c.634A>G, NP_722523.1:p.Thr309Ala, NP_065201.1:p.Thr265Ala, NP_001284543.1:p.Thr309Ala, NP_001337461.1:p.Thr330Ala, NP_001337462.1:p.Thr308Ala, NP_001337463.1:p.Thr308Ala, NP_001337464.1:p.Thr308Ala, NP_001337474.1:p.Thr161Ala, NP_001337465.1:p.Thr265Ala, NP_001337466.1:p.Thr264Ala, NP_001337467.1:p.Thr261Ala, NP_001337469.1:p.Thr309Ala, NP_001337470.1:p.Thr309Ala, NP_001291408.1:p.Thr257Ala, NP_001337468.1:p.Thr256Ala, NP_001337475.1:p.Thr161Ala, NP_001337471.1:p.Thr213Ala, NP_001337472.1:p.Thr212Ala, NP_001337473.1:p.Thr209Ala, XP_011534279.2:p.Thr309Ala, XP_016866579.1:p.Thr256Ala, XP_047275076.1:p.Thr257Ala, XP_047275077.1:p.Thr264Ala, XP_047275078.1:p.Thr257Ala, XP_047275080.1:p.Thr256Ala, XP_047275079.1:p.Thr257Ala, XP_047275081.1:p.Thr309Ala, XP_047275082.1:p.Thr213Ala, XP_047275085.1:p.Thr212Ala, XP_047275083.1:p.Thr213Ala, XP_047275084.1:p.Thr212Ala

                          13.

                          rs1475367387 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            6:85536830 (GRCh38)
                            6:86246548 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:85536829:A:G
                            Gene:
                            SNX14 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000006.12:g.85536830A>G, NC_000006.11:g.86246548A>G, NG_047171.1:g.62327T>C, NM_153816.6:c.1570T>C, NM_153816.5:c.1570T>C, NM_153816.4:c.1570T>C, NM_153816.3:c.1570T>C, NM_020468.6:c.1411T>C, NM_020468.5:c.1411T>C, NM_020468.4:c.1411T>C, NM_020468.3:c.1411T>C, NM_001297614.3:c.1543T>C, NM_001297614.2:c.1543T>C, NM_001297614.1:c.1543T>C, NR_146778.2:n.1710T>C, NR_146778.1:n.2008T>C, NR_146779.2:n.1707T>C, NR_146779.1:n.2005T>C, NR_146777.2:n.1706T>C, NR_146777.1:n.2004T>C, NR_146776.2:n.1578T>C, NR_146776.1:n.1876T>C, NM_001350532.2:c.1633T>C, NM_001350532.1:c.1633T>C, NM_001350552.2:c.415T>C, NM_001350552.1:c.415T>C, NR_146775.2:n.1455T>C, NR_146775.1:n.1753T>C, NM_001350533.2:c.1567T>C, NM_001350533.1:c.1567T>C, NR_146774.2:n.1452T>C, NR_146774.1:n.1750T>C, NM_001350550.2:c.415T>C, NM_001350550.1:c.415T>C, NM_001350534.2:c.1540T>C, NM_001350534.1:c.1540T>C, NM_001350535.2:c.1567T>C, NM_001350535.1:c.1567T>C, NM_001350545.2:c.1126T>C, NM_001350545.1:c.1126T>C, NM_001350551.2:c.415T>C, NM_001350551.1:c.415T>C, NM_001350536.2:c.1438T>C, NM_001350536.1:c.1438T>C, NM_001350537.2:c.1435T>C, NM_001350537.1:c.1435T>C, NM_001350548.2:c.415T>C, NM_001350548.1:c.415T>C, NM_001350538.2:c.1426T>C, NM_001350538.1:c.1426T>C, NM_001350540.2:c.1570T>C, NM_001350540.1:c.1570T>C, NM_001350541.2:c.1543T>C, NM_001350541.1:c.1543T>C, NM_001304479.2:c.1414T>C, NM_001304479.1:c.1414T>C, NM_001350539.2:c.1411T>C, NM_001350539.1:c.1411T>C, NM_001350549.2:c.415T>C, NM_001350549.1:c.415T>C, NM_001350553.2:c.388T>C, NM_001350553.1:c.388T>C, NM_001350546.2:c.1126T>C, NM_001350546.1:c.1126T>C, NM_001350547.2:c.520T>C, NM_001350547.1:c.520T>C, NM_001350542.2:c.1282T>C, NM_001350542.1:c.1282T>C, NM_001350543.2:c.1279T>C, NM_001350543.1:c.1279T>C, NM_001350544.2:c.1270T>C, NM_001350544.1:c.1270T>C, XM_011535977.3:c.1570T>C, XM_011535977.2:c.1414T>C, XM_011535977.1:c.1414T>C, XM_017011090.2:c.1411T>C, XM_017011090.1:c.1411T>C, XM_047419120.1:c.1414T>C, NR_123729.1:n.1729T>C, XM_047419121.1:c.1408T>C, XM_047419122.1:c.1387T>C, XM_047419124.1:c.1384T>C, XM_047419123.1:c.1387T>C, XM_047419125.1:c.1543T>C, XM_047419126.1:c.1282T>C, XM_047419129.1:c.1252T>C, XM_047419127.1:c.1255T>C, XM_047419128.1:c.1252T>C

                            14.

                            rs1475350614 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              6:85514161 (GRCh38)
                              6:86223879 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:85514160:G:A,NC_000006.12:85514160:G:T
                              Gene:
                              SNX14 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              NC_000006.12:g.85514161G>A, NC_000006.12:g.85514161G>T, NC_000006.11:g.86223879G>A, NC_000006.11:g.86223879G>T, NG_047171.1:g.84996C>T, NG_047171.1:g.84996C>A, NM_153816.6:c.2466C>T, NM_153816.6:c.2466C>A, NM_153816.5:c.2466C>T, NM_153816.5:c.2466C>A, NM_153816.4:c.2466C>T, NM_153816.4:c.2466C>A, NM_153816.3:c.2466C>T, NM_153816.3:c.2466C>A, NM_020468.6:c.2307C>T, NM_020468.6:c.2307C>A, NM_020468.5:c.2307C>T, NM_020468.5:c.2307C>A, NM_020468.4:c.2307C>T, NM_020468.4:c.2307C>A, NM_020468.3:c.2307C>T, NM_020468.3:c.2307C>A, NM_001297614.3:c.2439C>T, NM_001297614.3:c.2439C>A, NM_001297614.2:c.2439C>T, NM_001297614.2:c.2439C>A, NM_001297614.1:c.2439C>T, NM_001297614.1:c.2439C>A, NR_146778.2:n.2606C>T, NR_146778.2:n.2606C>A, NR_146778.1:n.2904C>T, NR_146778.1:n.2904C>A, NR_146779.2:n.2603C>T, NR_146779.2:n.2603C>A, NR_146779.1:n.2901C>T, NR_146779.1:n.2901C>A, NR_146777.2:n.2602C>T, NR_146777.2:n.2602C>A, NR_146777.1:n.2900C>T, NR_146777.1:n.2900C>A, NR_146776.2:n.2474C>T, NR_146776.2:n.2474C>A, NR_146776.1:n.2772C>T, NR_146776.1:n.2772C>A, NM_001350532.2:c.2529C>T, NM_001350532.2:c.2529C>A, NM_001350532.1:c.2529C>T, NM_001350532.1:c.2529C>A, NM_001350552.2:c.1311C>T, NM_001350552.2:c.1311C>A, NM_001350552.1:c.1311C>T, NM_001350552.1:c.1311C>A, NR_146775.2:n.2351C>T, NR_146775.2:n.2351C>A, NR_146775.1:n.2649C>T, NR_146775.1:n.2649C>A, NM_001350533.2:c.2463C>T, NM_001350533.2:c.2463C>A, NM_001350533.1:c.2463C>T, NM_001350533.1:c.2463C>A, NR_146774.2:n.2348C>T, NR_146774.2:n.2348C>A, NR_146774.1:n.2646C>T, NR_146774.1:n.2646C>A, NM_001350550.2:c.1311C>T, NM_001350550.2:c.1311C>A, NM_001350550.1:c.1311C>T, NM_001350550.1:c.1311C>A, NM_001350534.2:c.2436C>T, NM_001350534.2:c.2436C>A, NM_001350534.1:c.2436C>T, NM_001350534.1:c.2436C>A, NM_001350535.2:c.2463C>T, NM_001350535.2:c.2463C>A, NM_001350535.1:c.2463C>T, NM_001350535.1:c.2463C>A, NM_001350545.2:c.2022C>T, NM_001350545.2:c.2022C>A, NM_001350545.1:c.2022C>T, NM_001350545.1:c.2022C>A, NM_001350551.2:c.1311C>T, NM_001350551.2:c.1311C>A, NM_001350551.1:c.1311C>T, NM_001350551.1:c.1311C>A, NM_001350536.2:c.2334C>T, NM_001350536.2:c.2334C>A, NM_001350536.1:c.2334C>T, NM_001350536.1:c.2334C>A, NM_001350537.2:c.2331C>T, NM_001350537.2:c.2331C>A, NM_001350537.1:c.2331C>T, NM_001350537.1:c.2331C>A, NM_001350548.2:c.1311C>T, NM_001350548.2:c.1311C>A, NM_001350548.1:c.1311C>T, NM_001350548.1:c.1311C>A, NM_001350538.2:c.2322C>T, NM_001350538.2:c.2322C>A, NM_001350538.1:c.2322C>T, NM_001350538.1:c.2322C>A, NM_001304479.2:c.2310C>T, NM_001304479.2:c.2310C>A, NM_001304479.1:c.2310C>T, NM_001304479.1:c.2310C>A, NM_001350539.2:c.2307C>T, NM_001350539.2:c.2307C>A, NM_001350539.1:c.2307C>T, NM_001350539.1:c.2307C>A, NM_001350549.2:c.1311C>T, NM_001350549.2:c.1311C>A, NM_001350549.1:c.1311C>T, NM_001350549.1:c.1311C>A, NM_001350553.2:c.1284C>T, NM_001350553.2:c.1284C>A, NM_001350553.1:c.1284C>T, NM_001350553.1:c.1284C>A, NM_001350546.2:c.2022C>T, NM_001350546.2:c.2022C>A, NM_001350546.1:c.2022C>T, NM_001350546.1:c.2022C>A, NM_001350547.2:c.1416C>T, NM_001350547.2:c.1416C>A, NM_001350547.1:c.1416C>T, NM_001350547.1:c.1416C>A, NM_001350542.2:c.2178C>T, NM_001350542.2:c.2178C>A, NM_001350542.1:c.2178C>T, NM_001350542.1:c.2178C>A, NM_001350543.2:c.2175C>T, NM_001350543.2:c.2175C>A, NM_001350543.1:c.2175C>T, NM_001350543.1:c.2175C>A, NM_001350544.2:c.2166C>T, NM_001350544.2:c.2166C>A, NM_001350544.1:c.2166C>T, NM_001350544.1:c.2166C>A, XM_011535977.3:c.2466C>T, XM_011535977.3:c.2466C>A, XM_011535977.2:c.2310C>T, XM_011535977.2:c.2310C>A, XM_011535977.1:c.2310C>T, XM_011535977.1:c.2310C>A, XM_017011090.2:c.2307C>T, XM_017011090.2:c.2307C>A, XM_017011090.1:c.2307C>T, XM_017011090.1:c.2307C>A, XM_047419120.1:c.2310C>T, XM_047419120.1:c.2310C>A, NR_123729.1:n.2625C>T, NR_123729.1:n.2625C>A, XM_047419121.1:c.2304C>T, XM_047419121.1:c.2304C>A, XM_047419122.1:c.2283C>T, XM_047419122.1:c.2283C>A, XM_047419124.1:c.2280C>T, XM_047419124.1:c.2280C>A, XM_047419123.1:c.2283C>T, XM_047419123.1:c.2283C>A, XM_047419125.1:c.2439C>T, XM_047419125.1:c.2439C>A, XM_047419126.1:c.2178C>T, XM_047419126.1:c.2178C>A, XM_047419129.1:c.2148C>T, XM_047419129.1:c.2148C>A, XM_047419127.1:c.2151C>T, XM_047419127.1:c.2151C>A, XM_047419128.1:c.2148C>T, XM_047419128.1:c.2148C>A

                              15.

                              rs1475226126 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                6:85514119 (GRCh38)
                                6:86223837 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:85514118:T:C
                                Gene:
                                SNX14 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000006.12:g.85514119T>C, NC_000006.11:g.86223837T>C, NG_047171.1:g.85038A>G, NM_153816.6:c.2508A>G, NM_153816.5:c.2508A>G, NM_153816.4:c.2508A>G, NM_153816.3:c.2508A>G, NM_020468.6:c.2349A>G, NM_020468.5:c.2349A>G, NM_020468.4:c.2349A>G, NM_020468.3:c.2349A>G, NM_001297614.3:c.2481A>G, NM_001297614.2:c.2481A>G, NM_001297614.1:c.2481A>G, NR_146778.2:n.2648A>G, NR_146778.1:n.2946A>G, NR_146779.2:n.2645A>G, NR_146779.1:n.2943A>G, NR_146777.2:n.2644A>G, NR_146777.1:n.2942A>G, NR_146776.2:n.2516A>G, NR_146776.1:n.2814A>G, NM_001350532.2:c.2571A>G, NM_001350532.1:c.2571A>G, NM_001350552.2:c.1353A>G, NM_001350552.1:c.1353A>G, NR_146775.2:n.2393A>G, NR_146775.1:n.2691A>G, NM_001350533.2:c.2505A>G, NM_001350533.1:c.2505A>G, NR_146774.2:n.2390A>G, NR_146774.1:n.2688A>G, NM_001350550.2:c.1353A>G, NM_001350550.1:c.1353A>G, NM_001350534.2:c.2478A>G, NM_001350534.1:c.2478A>G, NM_001350535.2:c.2505A>G, NM_001350535.1:c.2505A>G, NM_001350545.2:c.2064A>G, NM_001350545.1:c.2064A>G, NM_001350551.2:c.1353A>G, NM_001350551.1:c.1353A>G, NM_001350536.2:c.2376A>G, NM_001350536.1:c.2376A>G, NM_001350537.2:c.2373A>G, NM_001350537.1:c.2373A>G, NM_001350548.2:c.1353A>G, NM_001350548.1:c.1353A>G, NM_001350538.2:c.2364A>G, NM_001350538.1:c.2364A>G, NM_001304479.2:c.2352A>G, NM_001304479.1:c.2352A>G, NM_001350539.2:c.2349A>G, NM_001350539.1:c.2349A>G, NM_001350549.2:c.1353A>G, NM_001350549.1:c.1353A>G, NM_001350553.2:c.1326A>G, NM_001350553.1:c.1326A>G, NM_001350546.2:c.2064A>G, NM_001350546.1:c.2064A>G, NM_001350547.2:c.1458A>G, NM_001350547.1:c.1458A>G, NM_001350542.2:c.2220A>G, NM_001350542.1:c.2220A>G, NM_001350543.2:c.2217A>G, NM_001350543.1:c.2217A>G, NM_001350544.2:c.2208A>G, NM_001350544.1:c.2208A>G, XM_011535977.3:c.2508A>G, XM_011535977.2:c.2352A>G, XM_011535977.1:c.2352A>G, XM_017011090.2:c.2349A>G, XM_017011090.1:c.2349A>G, XM_047419120.1:c.2352A>G, NR_123729.1:n.2667A>G, XM_047419121.1:c.2346A>G, XM_047419122.1:c.2325A>G, XM_047419124.1:c.2322A>G, XM_047419123.1:c.2325A>G, XM_047419125.1:c.2481A>G, XM_047419126.1:c.2220A>G, XM_047419129.1:c.2190A>G, XM_047419127.1:c.2193A>G, XM_047419128.1:c.2190A>G

                                16.

                                rs1473407975 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  6:85526213 (GRCh38)
                                  6:86235931 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:85526212:T:A
                                  Gene:
                                  SNX14 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000012/3 (GnomAD_exomes)
                                  A=0.000023/6 (TOPMED)
                                  HGVS:
                                  NC_000006.12:g.85526213T>A, NC_000006.11:g.86235931T>A, NG_047171.1:g.72944A>T, NM_153816.6:c.2020A>T, NM_153816.5:c.2020A>T, NM_153816.4:c.2020A>T, NM_153816.3:c.2020A>T, NM_020468.6:c.1861A>T, NM_020468.5:c.1861A>T, NM_020468.4:c.1861A>T, NM_020468.3:c.1861A>T, NM_001297614.3:c.1993A>T, NM_001297614.2:c.1993A>T, NM_001297614.1:c.1993A>T, NR_146778.2:n.2160A>T, NR_146778.1:n.2458A>T, NR_146779.2:n.2157A>T, NR_146779.1:n.2455A>T, NR_146777.2:n.2156A>T, NR_146777.1:n.2454A>T, NR_146776.2:n.2028A>T, NR_146776.1:n.2326A>T, NM_001350532.2:c.2083A>T, NM_001350532.1:c.2083A>T, NM_001350552.2:c.865A>T, NM_001350552.1:c.865A>T, NR_146775.2:n.1905A>T, NR_146775.1:n.2203A>T, NM_001350533.2:c.2017A>T, NM_001350533.1:c.2017A>T, NR_146774.2:n.1902A>T, NR_146774.1:n.2200A>T, NM_001350550.2:c.865A>T, NM_001350550.1:c.865A>T, NM_001350534.2:c.1990A>T, NM_001350534.1:c.1990A>T, NM_001350535.2:c.2017A>T, NM_001350535.1:c.2017A>T, NM_001350545.2:c.1576A>T, NM_001350545.1:c.1576A>T, NM_001350551.2:c.865A>T, NM_001350551.1:c.865A>T, NM_001350536.2:c.1888A>T, NM_001350536.1:c.1888A>T, NM_001350537.2:c.1885A>T, NM_001350537.1:c.1885A>T, NM_001350548.2:c.865A>T, NM_001350548.1:c.865A>T, NM_001350538.2:c.1876A>T, NM_001350538.1:c.1876A>T, NM_001350540.2:c.2020A>T, NM_001350540.1:c.2020A>T, NM_001350541.2:c.1993A>T, NM_001350541.1:c.1993A>T, NM_001304479.2:c.1864A>T, NM_001304479.1:c.1864A>T, NM_001350539.2:c.1861A>T, NM_001350539.1:c.1861A>T, NM_001350549.2:c.865A>T, NM_001350549.1:c.865A>T, NM_001350553.2:c.838A>T, NM_001350553.1:c.838A>T, NM_001350546.2:c.1576A>T, NM_001350546.1:c.1576A>T, NM_001350547.2:c.970A>T, NM_001350547.1:c.970A>T, NM_001350542.2:c.1732A>T, NM_001350542.1:c.1732A>T, NM_001350543.2:c.1729A>T, NM_001350543.1:c.1729A>T, NM_001350544.2:c.1720A>T, NM_001350544.1:c.1720A>T, XM_011535977.3:c.2020A>T, XM_011535977.2:c.1864A>T, XM_011535977.1:c.1864A>T, XM_017011090.2:c.1861A>T, XM_017011090.1:c.1861A>T, XM_047419120.1:c.1864A>T, NR_123729.1:n.2179A>T, XM_047419121.1:c.1858A>T, XM_047419122.1:c.1837A>T, XM_047419124.1:c.1834A>T, XM_047419123.1:c.1837A>T, XM_047419125.1:c.1993A>T, XM_047419126.1:c.1732A>T, XM_047419129.1:c.1702A>T, XM_047419127.1:c.1705A>T, XM_047419128.1:c.1702A>T, NP_722523.1:p.Ser674Cys, NP_065201.1:p.Ser621Cys, NP_001284543.1:p.Ser665Cys, NP_001337461.1:p.Ser695Cys, NP_001337481.1:p.Ser289Cys, NP_001337462.1:p.Ser673Cys, NP_001337479.1:p.Ser289Cys, NP_001337463.1:p.Ser664Cys, NP_001337464.1:p.Ser673Cys, NP_001337474.1:p.Ser526Cys, NP_001337480.1:p.Ser289Cys, NP_001337465.1:p.Ser630Cys, NP_001337466.1:p.Ser629Cys, NP_001337477.1:p.Ser289Cys, NP_001337467.1:p.Ser626Cys, NP_001337469.1:p.Ser674Cys, NP_001337470.1:p.Ser665Cys, NP_001291408.1:p.Ser622Cys, NP_001337468.1:p.Ser621Cys, NP_001337478.1:p.Ser289Cys, NP_001337482.1:p.Ser280Cys, NP_001337475.1:p.Ser526Cys, NP_001337476.1:p.Ser324Cys, NP_001337471.1:p.Ser578Cys, NP_001337472.1:p.Ser577Cys, NP_001337473.1:p.Ser574Cys, XP_011534279.2:p.Ser674Cys, XP_016866579.1:p.Ser621Cys, XP_047275076.1:p.Ser622Cys, XP_047275077.1:p.Ser620Cys, XP_047275078.1:p.Ser613Cys, XP_047275080.1:p.Ser612Cys, XP_047275079.1:p.Ser613Cys, XP_047275081.1:p.Ser665Cys, XP_047275082.1:p.Ser578Cys, XP_047275085.1:p.Ser568Cys, XP_047275083.1:p.Ser569Cys, XP_047275084.1:p.Ser568Cys

                                  17.

                                  rs1471214519 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    6:85549790 (GRCh38)
                                    6:86259508 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:85549789:G:A,NC_000006.12:85549789:G:T
                                    Gene:
                                    SNX14 (Varview)
                                    Functional Consequence:
                                    5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    A=0./0 (KOREAN)
                                    T=0.000004/1 (GnomAD_exomes)
                                    A=0.001092/2 (Korea1K)
                                    HGVS:
                                    NC_000006.12:g.85549790G>A, NC_000006.12:g.85549790G>T, NC_000006.11:g.86259508G>A, NC_000006.11:g.86259508G>T, NG_047171.1:g.49367C>T, NG_047171.1:g.49367C>A, NM_153816.6:c.724C>T, NM_153816.6:c.724C>A, NM_153816.5:c.724C>T, NM_153816.5:c.724C>A, NM_153816.4:c.724C>T, NM_153816.4:c.724C>A, NM_153816.3:c.724C>T, NM_153816.3:c.724C>A, NM_020468.6:c.592C>T, NM_020468.6:c.592C>A, NM_020468.5:c.592C>T, NM_020468.5:c.592C>A, NM_020468.4:c.592C>T, NM_020468.4:c.592C>A, NM_020468.3:c.592C>T, NM_020468.3:c.592C>A, NM_001297614.3:c.724C>T, NM_001297614.3:c.724C>A, NM_001297614.2:c.724C>T, NM_001297614.2:c.724C>A, NM_001297614.1:c.724C>T, NM_001297614.1:c.724C>A, NR_146778.2:n.864C>T, NR_146778.2:n.864C>A, NR_146778.1:n.1162C>T, NR_146778.1:n.1162C>A, NR_146779.2:n.861C>T, NR_146779.2:n.861C>A, NR_146779.1:n.1159C>T, NR_146779.1:n.1159C>A, NR_146777.2:n.864C>T, NR_146777.2:n.864C>A, NR_146777.1:n.1162C>T, NR_146777.1:n.1162C>A, NR_146776.2:n.732C>T, NR_146776.2:n.732C>A, NR_146776.1:n.1030C>T, NR_146776.1:n.1030C>A, NM_001350532.2:c.787C>T, NM_001350532.2:c.787C>A, NM_001350532.1:c.787C>T, NM_001350532.1:c.787C>A, NM_001350552.2:c.-460C>T, NM_001350552.2:c.-460C>A, NM_001350552.1:c.-460C>T, NM_001350552.1:c.-460C>A, NR_146775.2:n.609C>T, NR_146775.2:n.609C>A, NR_146775.1:n.907C>T, NR_146775.1:n.907C>A, NM_001350533.2:c.721C>T, NM_001350533.2:c.721C>A, NM_001350533.1:c.721C>T, NM_001350533.1:c.721C>A, NR_146774.2:n.606C>T, NR_146774.2:n.606C>A, NR_146774.1:n.904C>T, NR_146774.1:n.904C>A, NM_001350550.2:c.-428C>T, NM_001350550.2:c.-428C>A, NM_001350550.1:c.-428C>T, NM_001350550.1:c.-428C>A, NM_001350534.2:c.721C>T, NM_001350534.2:c.721C>A, NM_001350534.1:c.721C>T, NM_001350534.1:c.721C>A, NM_001350535.2:c.721C>T, NM_001350535.2:c.721C>A, NM_001350535.1:c.721C>T, NM_001350535.1:c.721C>A, NM_001350545.2:c.280C>T, NM_001350545.2:c.280C>A, NM_001350545.1:c.280C>T, NM_001350545.1:c.280C>A, NM_001350551.2:c.-428C>T, NM_001350551.2:c.-428C>A, NM_001350551.1:c.-428C>T, NM_001350551.1:c.-428C>A, NM_001350536.2:c.592C>T, NM_001350536.2:c.592C>A, NM_001350536.1:c.592C>T, NM_001350536.1:c.592C>A, NM_001350537.2:c.589C>T, NM_001350537.2:c.589C>A, NM_001350537.1:c.589C>T, NM_001350537.1:c.589C>A, NM_001350548.2:c.-428C>T, NM_001350548.2:c.-428C>A, NM_001350548.1:c.-428C>T, NM_001350548.1:c.-428C>A, NM_001350540.2:c.724C>T, NM_001350540.2:c.724C>A, NM_001350540.1:c.724C>T, NM_001350540.1:c.724C>A, NM_001350541.2:c.724C>T, NM_001350541.2:c.724C>A, NM_001350541.1:c.724C>T, NM_001350541.1:c.724C>A, NM_001304479.2:c.568C>T, NM_001304479.2:c.568C>A, NM_001304479.1:c.568C>T, NM_001304479.1:c.568C>A, NM_001350539.2:c.565C>T, NM_001350539.2:c.565C>A, NM_001350539.1:c.565C>T, NM_001350539.1:c.565C>A, NM_001350549.2:c.-428C>T, NM_001350549.2:c.-428C>A, NM_001350549.1:c.-428C>T, NM_001350549.1:c.-428C>A, NM_001350553.2:c.-428C>T, NM_001350553.2:c.-428C>A, NM_001350553.1:c.-428C>T, NM_001350553.1:c.-428C>A, NM_001350546.2:c.280C>T, NM_001350546.2:c.280C>A, NM_001350546.1:c.280C>T, NM_001350546.1:c.280C>A, NM_001350547.2:c.-327C>T, NM_001350547.2:c.-327C>A, NM_001350547.1:c.-327C>T, NM_001350547.1:c.-327C>A, NM_001350542.2:c.436C>T, NM_001350542.2:c.436C>A, NM_001350542.1:c.436C>T, NM_001350542.1:c.436C>A, NM_001350543.2:c.433C>T, NM_001350543.2:c.433C>A, NM_001350543.1:c.433C>T, NM_001350543.1:c.433C>A, XM_011535977.3:c.724C>T, XM_011535977.3:c.724C>A, XM_011535977.2:c.568C>T, XM_011535977.2:c.568C>A, XM_011535977.1:c.568C>T, XM_011535977.1:c.568C>A, XM_017011090.2:c.565C>T, XM_017011090.2:c.565C>A, XM_017011090.1:c.565C>T, XM_017011090.1:c.565C>A, XM_047419120.1:c.568C>T, XM_047419120.1:c.568C>A, NR_123729.1:n.883C>T, NR_123729.1:n.883C>A, XM_047419121.1:c.589C>T, XM_047419121.1:c.589C>A, XM_047419122.1:c.568C>T, XM_047419122.1:c.568C>A, XM_047419124.1:c.565C>T, XM_047419124.1:c.565C>A, XM_047419123.1:c.568C>T, XM_047419123.1:c.568C>A, XM_047419125.1:c.724C>T, XM_047419125.1:c.724C>A, XM_047419126.1:c.436C>T, XM_047419126.1:c.436C>A, XM_047419129.1:c.433C>T, XM_047419129.1:c.433C>A, XM_047419127.1:c.436C>T, XM_047419127.1:c.436C>A, XM_047419128.1:c.433C>T, XM_047419128.1:c.433C>A, NP_722523.1:p.His242Tyr, NP_722523.1:p.His242Asn, NP_065201.1:p.His198Tyr, NP_065201.1:p.His198Asn, NP_001284543.1:p.His242Tyr, NP_001284543.1:p.His242Asn, NP_001337461.1:p.His263Tyr, NP_001337461.1:p.His263Asn, NP_001337462.1:p.His241Tyr, NP_001337462.1:p.His241Asn, NP_001337463.1:p.His241Tyr, NP_001337463.1:p.His241Asn, NP_001337464.1:p.His241Tyr, NP_001337464.1:p.His241Asn, NP_001337474.1:p.His94Tyr, NP_001337474.1:p.His94Asn, NP_001337465.1:p.His198Tyr, NP_001337465.1:p.His198Asn, NP_001337466.1:p.His197Tyr, NP_001337466.1:p.His197Asn, NP_001337469.1:p.His242Tyr, NP_001337469.1:p.His242Asn, NP_001337470.1:p.His242Tyr, NP_001337470.1:p.His242Asn, NP_001291408.1:p.His190Tyr, NP_001291408.1:p.His190Asn, NP_001337468.1:p.His189Tyr, NP_001337468.1:p.His189Asn, NP_001337475.1:p.His94Tyr, NP_001337475.1:p.His94Asn, NP_001337471.1:p.His146Tyr, NP_001337471.1:p.His146Asn, NP_001337472.1:p.His145Tyr, NP_001337472.1:p.His145Asn, XP_011534279.2:p.His242Tyr, XP_011534279.2:p.His242Asn, XP_016866579.1:p.His189Tyr, XP_016866579.1:p.His189Asn, XP_047275076.1:p.His190Tyr, XP_047275076.1:p.His190Asn, XP_047275077.1:p.His197Tyr, XP_047275077.1:p.His197Asn, XP_047275078.1:p.His190Tyr, XP_047275078.1:p.His190Asn, XP_047275080.1:p.His189Tyr, XP_047275080.1:p.His189Asn, XP_047275079.1:p.His190Tyr, XP_047275079.1:p.His190Asn, XP_047275081.1:p.His242Tyr, XP_047275081.1:p.His242Asn, XP_047275082.1:p.His146Tyr, XP_047275082.1:p.His146Asn, XP_047275085.1:p.His145Tyr, XP_047275085.1:p.His145Asn, XP_047275083.1:p.His146Tyr, XP_047275083.1:p.His146Asn, XP_047275084.1:p.His145Tyr, XP_047275084.1:p.His145Asn

                                    18.

                                    rs1470299922 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      6:85547201 (GRCh38)
                                      6:86256919 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:85547200:A:C
                                      Gene:
                                      SNX14 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000006.12:g.85547201A>C, NC_000006.11:g.86256919A>C, NG_047171.1:g.51956T>G, NM_153816.6:c.1019T>G, NM_153816.5:c.1019T>G, NM_153816.4:c.1019T>G, NM_153816.3:c.1019T>G, NM_020468.6:c.887T>G, NM_020468.5:c.887T>G, NM_020468.4:c.887T>G, NM_020468.3:c.887T>G, NM_001297614.3:c.1019T>G, NM_001297614.2:c.1019T>G, NM_001297614.1:c.1019T>G, NR_146778.2:n.1159T>G, NR_146778.1:n.1457T>G, NR_146779.2:n.1156T>G, NR_146779.1:n.1454T>G, NR_146777.2:n.1159T>G, NR_146777.1:n.1457T>G, NR_146776.2:n.1027T>G, NR_146776.1:n.1325T>G, NM_001350532.2:c.1082T>G, NM_001350532.1:c.1082T>G, NM_001350552.2:c.-165T>G, NM_001350552.1:c.-165T>G, NR_146775.2:n.904T>G, NR_146775.1:n.1202T>G, NM_001350533.2:c.1016T>G, NM_001350533.1:c.1016T>G, NR_146774.2:n.901T>G, NR_146774.1:n.1199T>G, NM_001350550.2:c.-133T>G, NM_001350550.1:c.-133T>G, NM_001350534.2:c.1016T>G, NM_001350534.1:c.1016T>G, NM_001350535.2:c.1016T>G, NM_001350535.1:c.1016T>G, NM_001350545.2:c.575T>G, NM_001350545.1:c.575T>G, NM_001350551.2:c.-133T>G, NM_001350551.1:c.-133T>G, NM_001350536.2:c.887T>G, NM_001350536.1:c.887T>G, NM_001350537.2:c.884T>G, NM_001350537.1:c.884T>G, NM_001350548.2:c.-133T>G, NM_001350548.1:c.-133T>G, NM_001350538.2:c.875T>G, NM_001350538.1:c.875T>G, NM_001350540.2:c.1019T>G, NM_001350540.1:c.1019T>G, NM_001350541.2:c.1019T>G, NM_001350541.1:c.1019T>G, NM_001304479.2:c.863T>G, NM_001304479.1:c.863T>G, NM_001350539.2:c.860T>G, NM_001350539.1:c.860T>G, NM_001350549.2:c.-133T>G, NM_001350549.1:c.-133T>G, NM_001350553.2:c.-133T>G, NM_001350553.1:c.-133T>G, NM_001350546.2:c.575T>G, NM_001350546.1:c.575T>G, NM_001350547.2:c.-32T>G, NM_001350547.1:c.-32T>G, NM_001350542.2:c.731T>G, NM_001350542.1:c.731T>G, NM_001350543.2:c.728T>G, NM_001350543.1:c.728T>G, NM_001350544.2:c.719T>G, NM_001350544.1:c.719T>G, XM_011535977.3:c.1019T>G, XM_011535977.2:c.863T>G, XM_011535977.1:c.863T>G, XM_017011090.2:c.860T>G, XM_017011090.1:c.860T>G, XM_047419120.1:c.863T>G, NR_123729.1:n.1178T>G, XM_047419121.1:c.884T>G, XM_047419122.1:c.863T>G, XM_047419124.1:c.860T>G, XM_047419123.1:c.863T>G, XM_047419125.1:c.1019T>G, XM_047419126.1:c.731T>G, XM_047419129.1:c.728T>G, XM_047419127.1:c.731T>G, XM_047419128.1:c.728T>G, NP_722523.1:p.Ile340Ser, NP_065201.1:p.Ile296Ser, NP_001284543.1:p.Ile340Ser, NP_001337461.1:p.Ile361Ser, NP_001337462.1:p.Ile339Ser, NP_001337463.1:p.Ile339Ser, NP_001337464.1:p.Ile339Ser, NP_001337474.1:p.Ile192Ser, NP_001337465.1:p.Ile296Ser, NP_001337466.1:p.Ile295Ser, NP_001337467.1:p.Ile292Ser, NP_001337469.1:p.Ile340Ser, NP_001337470.1:p.Ile340Ser, NP_001291408.1:p.Ile288Ser, NP_001337468.1:p.Ile287Ser, NP_001337475.1:p.Ile192Ser, NP_001337471.1:p.Ile244Ser, NP_001337472.1:p.Ile243Ser, NP_001337473.1:p.Ile240Ser, XP_011534279.2:p.Ile340Ser, XP_016866579.1:p.Ile287Ser, XP_047275076.1:p.Ile288Ser, XP_047275077.1:p.Ile295Ser, XP_047275078.1:p.Ile288Ser, XP_047275080.1:p.Ile287Ser, XP_047275079.1:p.Ile288Ser, XP_047275081.1:p.Ile340Ser, XP_047275082.1:p.Ile244Ser, XP_047275085.1:p.Ile243Ser, XP_047275083.1:p.Ile244Ser, XP_047275084.1:p.Ile243Ser

                                      19.

                                      rs1469349039 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        6:85543265 (GRCh38)
                                        6:86252983 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:85543264:T:C
                                        Gene:
                                        SNX14 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000006.12:g.85543265T>C, NC_000006.11:g.86252983T>C, NG_047171.1:g.55892A>G, NM_153816.6:c.1306A>G, NM_153816.5:c.1306A>G, NM_153816.4:c.1306A>G, NM_153816.3:c.1306A>G, NM_020468.6:c.1174A>G, NM_020468.5:c.1174A>G, NM_020468.4:c.1174A>G, NM_020468.3:c.1174A>G, NM_001297614.3:c.1306A>G, NM_001297614.2:c.1306A>G, NM_001297614.1:c.1306A>G, NR_146778.2:n.1446A>G, NR_146778.1:n.1744A>G, NR_146779.2:n.1443A>G, NR_146779.1:n.1741A>G, NR_146777.2:n.1442A>G, NR_146777.1:n.1740A>G, NR_146776.2:n.1314A>G, NR_146776.1:n.1612A>G, NM_001350532.2:c.1369A>G, NM_001350532.1:c.1369A>G, NM_001350552.2:c.151A>G, NM_001350552.1:c.151A>G, NR_146775.2:n.1191A>G, NR_146775.1:n.1489A>G, NM_001350533.2:c.1303A>G, NM_001350533.1:c.1303A>G, NR_146774.2:n.1188A>G, NR_146774.1:n.1486A>G, NM_001350550.2:c.151A>G, NM_001350550.1:c.151A>G, NM_001350534.2:c.1303A>G, NM_001350534.1:c.1303A>G, NM_001350535.2:c.1303A>G, NM_001350535.1:c.1303A>G, NM_001350545.2:c.862A>G, NM_001350545.1:c.862A>G, NM_001350551.2:c.151A>G, NM_001350551.1:c.151A>G, NM_001350536.2:c.1174A>G, NM_001350536.1:c.1174A>G, NM_001350537.2:c.1171A>G, NM_001350537.1:c.1171A>G, NM_001350548.2:c.151A>G, NM_001350548.1:c.151A>G, NM_001350538.2:c.1162A>G, NM_001350538.1:c.1162A>G, NM_001350540.2:c.1306A>G, NM_001350540.1:c.1306A>G, NM_001350541.2:c.1306A>G, NM_001350541.1:c.1306A>G, NM_001304479.2:c.1150A>G, NM_001304479.1:c.1150A>G, NM_001350539.2:c.1147A>G, NM_001350539.1:c.1147A>G, NM_001350549.2:c.151A>G, NM_001350549.1:c.151A>G, NM_001350553.2:c.151A>G, NM_001350553.1:c.151A>G, NM_001350546.2:c.862A>G, NM_001350546.1:c.862A>G, NM_001350547.2:c.256A>G, NM_001350547.1:c.256A>G, NM_001350542.2:c.1018A>G, NM_001350542.1:c.1018A>G, NM_001350543.2:c.1015A>G, NM_001350543.1:c.1015A>G, NM_001350544.2:c.1006A>G, NM_001350544.1:c.1006A>G, XM_011535977.3:c.1306A>G, XM_011535977.2:c.1150A>G, XM_011535977.1:c.1150A>G, XM_017011090.2:c.1147A>G, XM_017011090.1:c.1147A>G, XM_047419120.1:c.1150A>G, NR_123729.1:n.1465A>G, XM_047419121.1:c.1171A>G, XM_047419122.1:c.1150A>G, XM_047419124.1:c.1147A>G, XM_047419123.1:c.1150A>G, XM_047419125.1:c.1306A>G, XM_047419126.1:c.1018A>G, XM_047419129.1:c.1015A>G, XM_047419127.1:c.1018A>G, XM_047419128.1:c.1015A>G, NP_722523.1:p.Met436Val, NP_065201.1:p.Met392Val, NP_001284543.1:p.Met436Val, NP_001337461.1:p.Met457Val, NP_001337481.1:p.Met51Val, NP_001337462.1:p.Met435Val, NP_001337479.1:p.Met51Val, NP_001337463.1:p.Met435Val, NP_001337464.1:p.Met435Val, NP_001337474.1:p.Met288Val, NP_001337480.1:p.Met51Val, NP_001337465.1:p.Met392Val, NP_001337466.1:p.Met391Val, NP_001337477.1:p.Met51Val, NP_001337467.1:p.Met388Val, NP_001337469.1:p.Met436Val, NP_001337470.1:p.Met436Val, NP_001291408.1:p.Met384Val, NP_001337468.1:p.Met383Val, NP_001337478.1:p.Met51Val, NP_001337482.1:p.Met51Val, NP_001337475.1:p.Met288Val, NP_001337476.1:p.Met86Val, NP_001337471.1:p.Met340Val, NP_001337472.1:p.Met339Val, NP_001337473.1:p.Met336Val, XP_011534279.2:p.Met436Val, XP_016866579.1:p.Met383Val, XP_047275076.1:p.Met384Val, XP_047275077.1:p.Met391Val, XP_047275078.1:p.Met384Val, XP_047275080.1:p.Met383Val, XP_047275079.1:p.Met384Val, XP_047275081.1:p.Met436Val, XP_047275082.1:p.Met340Val, XP_047275085.1:p.Met339Val, XP_047275083.1:p.Met340Val, XP_047275084.1:p.Met339Val

                                        20.

                                        rs1463320537 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          6:85547219 (GRCh38)
                                          6:86256937 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:85547218:T:C
                                          Gene:
                                          SNX14 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000006.12:g.85547219T>C, NC_000006.11:g.86256937T>C, NG_047171.1:g.51938A>G, NM_153816.6:c.1001A>G, NM_153816.5:c.1001A>G, NM_153816.4:c.1001A>G, NM_153816.3:c.1001A>G, NM_020468.6:c.869A>G, NM_020468.5:c.869A>G, NM_020468.4:c.869A>G, NM_020468.3:c.869A>G, NM_001297614.3:c.1001A>G, NM_001297614.2:c.1001A>G, NM_001297614.1:c.1001A>G, NR_146778.2:n.1141A>G, NR_146778.1:n.1439A>G, NR_146779.2:n.1138A>G, NR_146779.1:n.1436A>G, NR_146777.2:n.1141A>G, NR_146777.1:n.1439A>G, NR_146776.2:n.1009A>G, NR_146776.1:n.1307A>G, NM_001350532.2:c.1064A>G, NM_001350532.1:c.1064A>G, NM_001350552.2:c.-183A>G, NM_001350552.1:c.-183A>G, NR_146775.2:n.886A>G, NR_146775.1:n.1184A>G, NM_001350533.2:c.998A>G, NM_001350533.1:c.998A>G, NR_146774.2:n.883A>G, NR_146774.1:n.1181A>G, NM_001350550.2:c.-151A>G, NM_001350550.1:c.-151A>G, NM_001350534.2:c.998A>G, NM_001350534.1:c.998A>G, NM_001350535.2:c.998A>G, NM_001350535.1:c.998A>G, NM_001350545.2:c.557A>G, NM_001350545.1:c.557A>G, NM_001350551.2:c.-151A>G, NM_001350551.1:c.-151A>G, NM_001350536.2:c.869A>G, NM_001350536.1:c.869A>G, NM_001350537.2:c.866A>G, NM_001350537.1:c.866A>G, NM_001350548.2:c.-151A>G, NM_001350548.1:c.-151A>G, NM_001350538.2:c.857A>G, NM_001350538.1:c.857A>G, NM_001350540.2:c.1001A>G, NM_001350540.1:c.1001A>G, NM_001350541.2:c.1001A>G, NM_001350541.1:c.1001A>G, NM_001304479.2:c.845A>G, NM_001304479.1:c.845A>G, NM_001350539.2:c.842A>G, NM_001350539.1:c.842A>G, NM_001350549.2:c.-151A>G, NM_001350549.1:c.-151A>G, NM_001350553.2:c.-151A>G, NM_001350553.1:c.-151A>G, NM_001350546.2:c.557A>G, NM_001350546.1:c.557A>G, NM_001350547.2:c.-50A>G, NM_001350547.1:c.-50A>G, NM_001350542.2:c.713A>G, NM_001350542.1:c.713A>G, NM_001350543.2:c.710A>G, NM_001350543.1:c.710A>G, NM_001350544.2:c.701A>G, NM_001350544.1:c.701A>G, XM_011535977.3:c.1001A>G, XM_011535977.2:c.845A>G, XM_011535977.1:c.845A>G, XM_017011090.2:c.842A>G, XM_017011090.1:c.842A>G, XM_047419120.1:c.845A>G, NR_123729.1:n.1160A>G, XM_047419121.1:c.866A>G, XM_047419122.1:c.845A>G, XM_047419124.1:c.842A>G, XM_047419123.1:c.845A>G, XM_047419125.1:c.1001A>G, XM_047419126.1:c.713A>G, XM_047419129.1:c.710A>G, XM_047419127.1:c.713A>G, XM_047419128.1:c.710A>G, NP_722523.1:p.Lys334Arg, NP_065201.1:p.Lys290Arg, NP_001284543.1:p.Lys334Arg, NP_001337461.1:p.Lys355Arg, NP_001337462.1:p.Lys333Arg, NP_001337463.1:p.Lys333Arg, NP_001337464.1:p.Lys333Arg, NP_001337474.1:p.Lys186Arg, NP_001337465.1:p.Lys290Arg, NP_001337466.1:p.Lys289Arg, NP_001337467.1:p.Lys286Arg, NP_001337469.1:p.Lys334Arg, NP_001337470.1:p.Lys334Arg, NP_001291408.1:p.Lys282Arg, NP_001337468.1:p.Lys281Arg, NP_001337475.1:p.Lys186Arg, NP_001337471.1:p.Lys238Arg, NP_001337472.1:p.Lys237Arg, NP_001337473.1:p.Lys234Arg, XP_011534279.2:p.Lys334Arg, XP_016866579.1:p.Lys281Arg, XP_047275076.1:p.Lys282Arg, XP_047275077.1:p.Lys289Arg, XP_047275078.1:p.Lys282Arg, XP_047275080.1:p.Lys281Arg, XP_047275079.1:p.Lys282Arg, XP_047275081.1:p.Lys334Arg, XP_047275082.1:p.Lys238Arg, XP_047275085.1:p.Lys237Arg, XP_047275083.1:p.Lys238Arg, XP_047275084.1:p.Lys237Arg

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...