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Items: 1 to 20 of 1533

1.

rs1490925921 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    5:75192692 (GRCh38)
    5:74488517 (GRCh37)
    Canonical SPDI:
    NC_000005.10:75192691:T:A
    Gene:
    ANKRD31 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000005.10:g.75192692T>A, NC_000005.9:g.74488517T>A, NG_053151.1:g.49206A>T, NM_001372053.1:c.1383A>T, NM_001164443.1:c.1383A>T, XM_011543298.4:c.1386A>T, XM_011543298.3:c.1386A>T, XM_011543298.2:c.1386A>T, XM_011543298.1:c.1386A>T, XM_011543300.4:c.1386A>T, XM_011543300.3:c.1386A>T, XM_011543300.2:c.1386A>T, XM_011543300.1:c.1386A>T, XM_011543301.4:c.1386A>T, XM_011543301.3:c.1386A>T, XM_011543301.2:c.1386A>T, XM_011543301.1:c.1386A>T, XM_017009318.3:c.1386A>T, XM_017009318.2:c.1386A>T, XM_017009318.1:c.1386A>T, XM_017009322.3:c.1386A>T, XM_017009322.2:c.1386A>T, XM_017009322.1:c.1386A>T, XM_024446010.2:c.1284A>T, XM_024446010.1:c.1284A>T, XM_024446011.2:c.996A>T, XM_024446011.1:c.996A>T, XM_017009319.2:c.1095A>T, XM_017009319.1:c.1095A>T, XM_011543302.2:c.1038A>T, XM_011543302.1:c.1038A>T, XM_017009320.2:c.1038A>T, XM_017009320.1:c.1038A>T, XM_017009317.1:c.1287A>T, XM_047417078.1:c.1386A>T, XM_017009321.1:c.84A>T, NP_001358982.1:p.Lys461Asn, NP_001157915.1:p.Lys461Asn, XP_011541600.1:p.Lys462Asn, XP_011541602.1:p.Lys462Asn, XP_011541603.1:p.Lys462Asn, XP_016864807.1:p.Lys462Asn, XP_016864811.1:p.Lys462Asn, XP_024301778.1:p.Lys428Asn, XP_024301779.1:p.Lys332Asn, XP_016864808.1:p.Lys365Asn, XP_011541604.1:p.Lys346Asn, XP_016864809.1:p.Lys346Asn, XP_016864806.1:p.Lys429Asn, XP_047273034.1:p.Lys462Asn, XP_016864810.1:p.Lys28Asn

    2.

    rs1490285604 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,G,T [Show Flanks]
      Chromosome:
      5:75148593 (GRCh38)
      5:74444418 (GRCh37)
      Canonical SPDI:
      NC_000005.10:75148592:C:A,NC_000005.10:75148592:C:G,NC_000005.10:75148592:C:T
      Gene:
      ANKRD31 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      G=0.000035/1 (TOMMO)
      HGVS:
      NC_000005.10:g.75148593C>A, NC_000005.10:g.75148593C>G, NC_000005.10:g.75148593C>T, NC_000005.9:g.74444418C>A, NC_000005.9:g.74444418C>G, NC_000005.9:g.74444418C>T, NG_053151.1:g.93305G>T, NG_053151.1:g.93305G>C, NG_053151.1:g.93305G>A, NM_001372053.1:c.1888G>T, NM_001372053.1:c.1888G>C, NM_001372053.1:c.1888G>A, NM_001164443.1:c.1888G>T, NM_001164443.1:c.1888G>C, NM_001164443.1:c.1888G>A, XM_011543298.4:c.1891G>T, XM_011543298.4:c.1891G>C, XM_011543298.4:c.1891G>A, XM_011543298.3:c.1891G>T, XM_011543298.3:c.1891G>C, XM_011543298.3:c.1891G>A, XM_011543298.2:c.1891G>T, XM_011543298.2:c.1891G>C, XM_011543298.2:c.1891G>A, XM_011543298.1:c.1891G>T, XM_011543298.1:c.1891G>C, XM_011543298.1:c.1891G>A, XM_011543300.4:c.1891G>T, XM_011543300.4:c.1891G>C, XM_011543300.4:c.1891G>A, XM_011543300.3:c.1891G>T, XM_011543300.3:c.1891G>C, XM_011543300.3:c.1891G>A, XM_011543300.2:c.1891G>T, XM_011543300.2:c.1891G>C, XM_011543300.2:c.1891G>A, XM_011543300.1:c.1891G>T, XM_011543300.1:c.1891G>C, XM_011543300.1:c.1891G>A, XM_011543301.4:c.1891G>T, XM_011543301.4:c.1891G>C, XM_011543301.4:c.1891G>A, XM_011543301.3:c.1891G>T, XM_011543301.3:c.1891G>C, XM_011543301.3:c.1891G>A, XM_011543301.2:c.1891G>T, XM_011543301.2:c.1891G>C, XM_011543301.2:c.1891G>A, XM_011543301.1:c.1891G>T, XM_011543301.1:c.1891G>C, XM_011543301.1:c.1891G>A, XM_017009318.3:c.1891G>T, XM_017009318.3:c.1891G>C, XM_017009318.3:c.1891G>A, XM_017009318.2:c.1891G>T, XM_017009318.2:c.1891G>C, XM_017009318.2:c.1891G>A, XM_017009318.1:c.1891G>T, XM_017009318.1:c.1891G>C, XM_017009318.1:c.1891G>A, XM_017009322.3:c.1891G>T, XM_017009322.3:c.1891G>C, XM_017009322.3:c.1891G>A, XM_017009322.2:c.1891G>T, XM_017009322.2:c.1891G>C, XM_017009322.2:c.1891G>A, XM_017009322.1:c.1891G>T, XM_017009322.1:c.1891G>C, XM_017009322.1:c.1891G>A, XM_024446010.2:c.1789G>T, XM_024446010.2:c.1789G>C, XM_024446010.2:c.1789G>A, XM_024446010.1:c.1789G>T, XM_024446010.1:c.1789G>C, XM_024446010.1:c.1789G>A, XM_024446011.2:c.1501G>T, XM_024446011.2:c.1501G>C, XM_024446011.2:c.1501G>A, XM_024446011.1:c.1501G>T, XM_024446011.1:c.1501G>C, XM_024446011.1:c.1501G>A, XM_017009319.2:c.1600G>T, XM_017009319.2:c.1600G>C, XM_017009319.2:c.1600G>A, XM_017009319.1:c.1600G>T, XM_017009319.1:c.1600G>C, XM_017009319.1:c.1600G>A, XM_011543302.2:c.1543G>T, XM_011543302.2:c.1543G>C, XM_011543302.2:c.1543G>A, XM_011543302.1:c.1543G>T, XM_011543302.1:c.1543G>C, XM_011543302.1:c.1543G>A, XM_017009320.2:c.1543G>T, XM_017009320.2:c.1543G>C, XM_017009320.2:c.1543G>A, XM_017009320.1:c.1543G>T, XM_017009320.1:c.1543G>C, XM_017009320.1:c.1543G>A, XM_017009317.1:c.1792G>T, XM_017009317.1:c.1792G>C, XM_017009317.1:c.1792G>A, XM_047417078.1:c.1891G>T, XM_047417078.1:c.1891G>C, XM_047417078.1:c.1891G>A, XM_017009321.1:c.589G>T, XM_017009321.1:c.589G>C, XM_017009321.1:c.589G>A, NP_001358982.1:p.Asp630Tyr, NP_001358982.1:p.Asp630His, NP_001358982.1:p.Asp630Asn, NP_001157915.1:p.Asp630Tyr, NP_001157915.1:p.Asp630His, NP_001157915.1:p.Asp630Asn, XP_011541600.1:p.Asp631Tyr, XP_011541600.1:p.Asp631His, XP_011541600.1:p.Asp631Asn, XP_011541602.1:p.Asp631Tyr, XP_011541602.1:p.Asp631His, XP_011541602.1:p.Asp631Asn, XP_011541603.1:p.Asp631Tyr, XP_011541603.1:p.Asp631His, XP_011541603.1:p.Asp631Asn, XP_016864807.1:p.Asp631Tyr, XP_016864807.1:p.Asp631His, XP_016864807.1:p.Asp631Asn, XP_016864811.1:p.Asp631Tyr, XP_016864811.1:p.Asp631His, XP_016864811.1:p.Asp631Asn, XP_024301778.1:p.Asp597Tyr, XP_024301778.1:p.Asp597His, XP_024301778.1:p.Asp597Asn, XP_024301779.1:p.Asp501Tyr, XP_024301779.1:p.Asp501His, XP_024301779.1:p.Asp501Asn, XP_016864808.1:p.Asp534Tyr, XP_016864808.1:p.Asp534His, XP_016864808.1:p.Asp534Asn, XP_011541604.1:p.Asp515Tyr, XP_011541604.1:p.Asp515His, XP_011541604.1:p.Asp515Asn, XP_016864809.1:p.Asp515Tyr, XP_016864809.1:p.Asp515His, XP_016864809.1:p.Asp515Asn, XP_016864806.1:p.Asp598Tyr, XP_016864806.1:p.Asp598His, XP_016864806.1:p.Asp598Asn, XP_047273034.1:p.Asp631Tyr, XP_047273034.1:p.Asp631His, XP_047273034.1:p.Asp631Asn, XP_016864810.1:p.Asp197Tyr, XP_016864810.1:p.Asp197His, XP_016864810.1:p.Asp197Asn

      3.

      rs1490235767 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        5:75116674 (GRCh38)
        5:74412499 (GRCh37)
        Canonical SPDI:
        NC_000005.10:75116673:A:T
        Gene:
        ANKRD31 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000066/1 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000223/1 (Estonian)
        HGVS:
        NC_000005.10:g.75116674A>T, NC_000005.9:g.74412499A>T, NG_053151.1:g.125224T>A, NM_001372053.1:c.4047T>A, NM_001164443.1:c.3876T>A, XM_011543298.4:c.4050T>A, XM_011543298.3:c.4050T>A, XM_011543298.2:c.4050T>A, XM_011543298.1:c.4050T>A, XM_011543300.4:c.4050T>A, XM_011543300.3:c.4050T>A, XM_011543300.2:c.4050T>A, XM_011543300.1:c.4050T>A, XM_011543301.4:c.3879T>A, XM_011543301.3:c.3879T>A, XM_011543301.2:c.3879T>A, XM_011543301.1:c.3879T>A, XM_017009318.3:c.4050T>A, XM_017009318.2:c.4050T>A, XM_017009318.1:c.4050T>A, XM_017009322.3:c.4050T>A, XM_017009322.2:c.4050T>A, XM_017009322.1:c.4050T>A, XM_024446010.2:c.3948T>A, XM_024446010.1:c.3948T>A, XM_024446011.2:c.3660T>A, XM_024446011.1:c.3660T>A, XM_017009319.2:c.3759T>A, XM_017009319.1:c.3759T>A, XM_011543302.2:c.3702T>A, XM_011543302.1:c.3702T>A, XM_017009320.2:c.3702T>A, XM_017009320.1:c.3702T>A, XM_017009317.1:c.3951T>A, XM_047417078.1:c.4050T>A, XM_017009321.1:c.2748T>A

        4.

        rs1489888570 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          T>- [Show Flanks]
          Chromosome:
          5:75146015 (GRCh38)
          5:74441840 (GRCh37)
          Canonical SPDI:
          NC_000005.10:75146014:T:
          Gene:
          ANKRD31 (Varview)
          Functional Consequence:
          frameshift_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          -=0.000007/1 (GnomAD)
          HGVS:
          NC_000005.10:g.75146015del, NC_000005.9:g.74441840del, NG_053151.1:g.95883del, NM_001372053.1:c.3396del, NM_001164443.1:c.3396del, XM_011543298.4:c.3399del, XM_011543298.3:c.3399del, XM_011543298.2:c.3399del, XM_011543298.1:c.3399del, XM_011543300.4:c.3399del, XM_011543300.3:c.3399del, XM_011543300.2:c.3399del, XM_011543300.1:c.3399del, XM_011543301.4:c.3399del, XM_011543301.3:c.3399del, XM_011543301.2:c.3399del, XM_011543301.1:c.3399del, XM_017009318.3:c.3399del, XM_017009318.2:c.3399del, XM_017009318.1:c.3399del, XM_017009322.3:c.3399del, XM_017009322.2:c.3399del, XM_017009322.1:c.3399del, XM_024446010.2:c.3297del, XM_024446010.1:c.3297del, XM_024446011.2:c.3009del, XM_024446011.1:c.3009del, XM_017009319.2:c.3108del, XM_017009319.1:c.3108del, XM_011543302.2:c.3051del, XM_011543302.1:c.3051del, XM_017009320.2:c.3051del, XM_017009320.1:c.3051del, XM_017009317.1:c.3300del, XM_047417078.1:c.3399del, XM_017009321.1:c.2097del, NP_001358982.1:p.Glu1133fs, NP_001157915.1:p.Glu1133fs, XP_011541600.1:p.Glu1134fs, XP_011541602.1:p.Glu1134fs, XP_011541603.1:p.Glu1134fs, XP_016864807.1:p.Glu1134fs, XP_016864811.1:p.Glu1134fs, XP_024301778.1:p.Glu1100fs, XP_024301779.1:p.Glu1004fs, XP_016864808.1:p.Glu1037fs, XP_011541604.1:p.Glu1018fs, XP_016864809.1:p.Glu1018fs, XP_016864806.1:p.Glu1101fs, XP_047273034.1:p.Glu1134fs, XP_016864810.1:p.Glu700fs

          5.

          rs1489698028 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            5:75146390 (GRCh38)
            5:74442215 (GRCh37)
            Canonical SPDI:
            NC_000005.10:75146389:T:G
            Gene:
            ANKRD31 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000014/2 (GnomAD)
            HGVS:
            NC_000005.10:g.75146390T>G, NC_000005.9:g.74442215T>G, NG_053151.1:g.95508A>C, NM_001372053.1:c.3021A>C, NM_001164443.1:c.3021A>C, XM_011543298.4:c.3024A>C, XM_011543298.3:c.3024A>C, XM_011543298.2:c.3024A>C, XM_011543298.1:c.3024A>C, XM_011543300.4:c.3024A>C, XM_011543300.3:c.3024A>C, XM_011543300.2:c.3024A>C, XM_011543300.1:c.3024A>C, XM_011543301.4:c.3024A>C, XM_011543301.3:c.3024A>C, XM_011543301.2:c.3024A>C, XM_011543301.1:c.3024A>C, XM_017009318.3:c.3024A>C, XM_017009318.2:c.3024A>C, XM_017009318.1:c.3024A>C, XM_017009322.3:c.3024A>C, XM_017009322.2:c.3024A>C, XM_017009322.1:c.3024A>C, XM_024446010.2:c.2922A>C, XM_024446010.1:c.2922A>C, XM_024446011.2:c.2634A>C, XM_024446011.1:c.2634A>C, XM_017009319.2:c.2733A>C, XM_017009319.1:c.2733A>C, XM_011543302.2:c.2676A>C, XM_011543302.1:c.2676A>C, XM_017009320.2:c.2676A>C, XM_017009320.1:c.2676A>C, XM_017009317.1:c.2925A>C, XM_047417078.1:c.3024A>C, XM_017009321.1:c.1722A>C, NP_001358982.1:p.Gln1007His, NP_001157915.1:p.Gln1007His, XP_011541600.1:p.Gln1008His, XP_011541602.1:p.Gln1008His, XP_011541603.1:p.Gln1008His, XP_016864807.1:p.Gln1008His, XP_016864811.1:p.Gln1008His, XP_024301778.1:p.Gln974His, XP_024301779.1:p.Gln878His, XP_016864808.1:p.Gln911His, XP_011541604.1:p.Gln892His, XP_016864809.1:p.Gln892His, XP_016864806.1:p.Gln975His, XP_047273034.1:p.Gln1008His, XP_016864810.1:p.Gln574His

            6.

            rs1489607089 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              5:75104578 (GRCh38)
              5:74400403 (GRCh37)
              Canonical SPDI:
              NC_000005.10:75104577:T:C
              Gene:
              ANKRD31 (Varview)
              Functional Consequence:
              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000007/1 (GnomAD_exomes)
              HGVS:
              NC_000005.10:g.75104578T>C, NC_000005.9:g.74400403T>C, NG_053151.1:g.137320A>G, NM_001372053.1:c.4981A>G, NM_001164443.1:c.4810A>G, XM_011543298.4:c.4984A>G, XM_011543298.3:c.4984A>G, XM_011543298.2:c.4984A>G, XM_011543298.1:c.4984A>G, XM_011543300.4:c.4984A>G, XM_011543300.3:c.4984A>G, XM_011543300.2:c.4984A>G, XM_011543300.1:c.4984A>G, XM_011543301.4:c.4813A>G, XM_011543301.3:c.4813A>G, XM_011543301.2:c.4813A>G, XM_011543301.1:c.4813A>G, XM_017009318.3:c.4984A>G, XM_017009318.2:c.4984A>G, XM_017009318.1:c.4984A>G, XM_024446010.2:c.4882A>G, XM_024446010.1:c.4882A>G, XM_024446011.2:c.4594A>G, XM_024446011.1:c.4594A>G, XM_017009319.2:c.4693A>G, XM_017009319.1:c.4693A>G, XM_011543302.2:c.4636A>G, XM_011543302.1:c.4636A>G, XM_017009320.2:c.4636A>G, XM_017009320.1:c.4636A>G, XM_017009317.1:c.4885A>G, XM_047417078.1:c.4984A>G, XM_017009321.1:c.3682A>G, NP_001358982.1:p.Ile1661Val, NP_001157915.1:p.Ile1604Val, XP_011541600.1:p.Ile1662Val, XP_011541602.1:p.Ile1662Val, XP_011541603.1:p.Ile1605Val, XP_016864807.1:p.Ile1662Val, XP_024301778.1:p.Ile1628Val, XP_024301779.1:p.Ile1532Val, XP_016864808.1:p.Ile1565Val, XP_011541604.1:p.Ile1546Val, XP_016864809.1:p.Ile1546Val, XP_016864806.1:p.Ile1629Val, XP_047273034.1:p.Ile1662Val, XP_016864810.1:p.Ile1228Val

              7.

              rs1489190614 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->TTG [Show Flanks]
                Chromosome:
                5:75148579 (GRCh38)
                5:74444405 (GRCh37)
                Canonical SPDI:
                NC_000005.10:75148579:TGTTG:TGTTGTTG
                Gene:
                ANKRD31 (Varview)
                Functional Consequence:
                inframe_insertion,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                TGT=0.000007/1 (GnomAD_exomes)
                HGVS:
                NC_000005.10:g.75148582_75148584dup, NC_000005.9:g.74444407_74444409dup, NG_053151.1:g.93316_93318dup, NM_001372053.1:c.1899_1901dup, NM_001164443.1:c.1899_1901dup, XM_011543298.4:c.1902_1904dup, XM_011543298.3:c.1902_1904dup, XM_011543298.2:c.1902_1904dup, XM_011543298.1:c.1902_1904dup, XM_011543300.4:c.1902_1904dup, XM_011543300.3:c.1902_1904dup, XM_011543300.2:c.1902_1904dup, XM_011543300.1:c.1902_1904dup, XM_011543301.4:c.1902_1904dup, XM_011543301.3:c.1902_1904dup, XM_011543301.2:c.1902_1904dup, XM_011543301.1:c.1902_1904dup, XM_017009318.3:c.1902_1904dup, XM_017009318.2:c.1902_1904dup, XM_017009318.1:c.1902_1904dup, XM_017009322.3:c.1902_1904dup, XM_017009322.2:c.1902_1904dup, XM_017009322.1:c.1902_1904dup, XM_024446010.2:c.1800_1802dup, XM_024446010.1:c.1800_1802dup, XM_024446011.2:c.1512_1514dup, XM_024446011.1:c.1512_1514dup, XM_017009319.2:c.1611_1613dup, XM_017009319.1:c.1611_1613dup, XM_011543302.2:c.1554_1556dup, XM_011543302.1:c.1554_1556dup, XM_017009320.2:c.1554_1556dup, XM_017009320.1:c.1554_1556dup, XM_017009317.1:c.1803_1805dup, XM_047417078.1:c.1902_1904dup, XM_017009321.1:c.600_602dup, NP_001358982.1:p.Gln633dup, NP_001157915.1:p.Gln633dup, XP_011541600.1:p.Gln634dup, XP_011541602.1:p.Gln634dup, XP_011541603.1:p.Gln634dup, XP_016864807.1:p.Gln634dup, XP_016864811.1:p.Gln634dup, XP_024301778.1:p.Gln600dup, XP_024301779.1:p.Gln504dup, XP_016864808.1:p.Gln537dup, XP_011541604.1:p.Gln518dup, XP_016864809.1:p.Gln518dup, XP_016864806.1:p.Gln601dup, XP_047273034.1:p.Gln634dup, XP_016864810.1:p.Gln200dup

                8.

                rs1489139454 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  5:75104577 (GRCh38)
                  5:74400402 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:75104576:A:G
                  Gene:
                  ANKRD31 (Varview)
                  Functional Consequence:
                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000005.10:g.75104577A>G, NC_000005.9:g.74400402A>G, NG_053151.1:g.137321T>C, NM_001372053.1:c.4982T>C, NM_001164443.1:c.4811T>C, XM_011543298.4:c.4985T>C, XM_011543298.3:c.4985T>C, XM_011543298.2:c.4985T>C, XM_011543298.1:c.4985T>C, XM_011543300.4:c.4985T>C, XM_011543300.3:c.4985T>C, XM_011543300.2:c.4985T>C, XM_011543300.1:c.4985T>C, XM_011543301.4:c.4814T>C, XM_011543301.3:c.4814T>C, XM_011543301.2:c.4814T>C, XM_011543301.1:c.4814T>C, XM_017009318.3:c.4985T>C, XM_017009318.2:c.4985T>C, XM_017009318.1:c.4985T>C, XM_024446010.2:c.4883T>C, XM_024446010.1:c.4883T>C, XM_024446011.2:c.4595T>C, XM_024446011.1:c.4595T>C, XM_017009319.2:c.4694T>C, XM_017009319.1:c.4694T>C, XM_011543302.2:c.4637T>C, XM_011543302.1:c.4637T>C, XM_017009320.2:c.4637T>C, XM_017009320.1:c.4637T>C, XM_017009317.1:c.4886T>C, XM_047417078.1:c.4985T>C, XM_017009321.1:c.3683T>C, NP_001358982.1:p.Ile1661Thr, NP_001157915.1:p.Ile1604Thr, XP_011541600.1:p.Ile1662Thr, XP_011541602.1:p.Ile1662Thr, XP_011541603.1:p.Ile1605Thr, XP_016864807.1:p.Ile1662Thr, XP_024301778.1:p.Ile1628Thr, XP_024301779.1:p.Ile1532Thr, XP_016864808.1:p.Ile1565Thr, XP_011541604.1:p.Ile1546Thr, XP_016864809.1:p.Ile1546Thr, XP_016864806.1:p.Ile1629Thr, XP_047273034.1:p.Ile1662Thr, XP_016864810.1:p.Ile1228Thr

                  9.

                  rs1489086557 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    5:75068531 (GRCh38)
                    5:74364356 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:75068530:T:G
                    Gene:
                    ANKRD31 (Varview)
                    Functional Consequence:
                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000005.10:g.75068531T>G, NC_000005.9:g.74364356T>G, NG_053151.1:g.173367A>C, NM_001372053.1:c.5781A>C, NM_001164443.1:c.5610A>C, XM_011543298.4:c.5784A>C, XM_011543298.3:c.5784A>C, XM_011543298.2:c.5784A>C, XM_011543298.1:c.5784A>C, XM_011543300.4:c.5712A>C, XM_011543300.3:c.5712A>C, XM_011543300.2:c.5712A>C, XM_011543300.1:c.5712A>C, XM_011543301.4:c.5613A>C, XM_011543301.3:c.5613A>C, XM_011543301.2:c.5613A>C, XM_011543301.1:c.5613A>C, XM_017009318.3:c.5643A>C, XM_017009318.2:c.5643A>C, XM_017009318.1:c.5643A>C, XM_024446010.2:c.5682A>C, XM_024446010.1:c.5682A>C, XM_024446011.2:c.5394A>C, XM_024446011.1:c.5394A>C, XM_017009319.2:c.5493A>C, XM_017009319.1:c.5493A>C, XM_011543302.2:c.5436A>C, XM_011543302.1:c.5436A>C, XM_017009320.2:c.5436A>C, XM_017009320.1:c.5436A>C, XM_017009317.1:c.5685A>C, XM_047417078.1:c.5571A>C, XM_017009321.1:c.4482A>C, NP_001358982.1:p.Glu1927Asp, NP_001157915.1:p.Glu1870Asp, XP_011541600.1:p.Glu1928Asp, XP_011541602.1:p.Glu1904Asp, XP_011541603.1:p.Glu1871Asp, XP_016864807.1:p.Glu1881Asp, XP_024301778.1:p.Glu1894Asp, XP_024301779.1:p.Glu1798Asp, XP_016864808.1:p.Glu1831Asp, XP_011541604.1:p.Glu1812Asp, XP_016864809.1:p.Glu1812Asp, XP_016864806.1:p.Glu1895Asp, XP_047273034.1:p.Glu1857Asp, XP_016864810.1:p.Glu1494Asp

                    10.

                    rs1488350177 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      5:75146618 (GRCh38)
                      5:74442443 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:75146617:C:T
                      Gene:
                      ANKRD31 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000005.10:g.75146618C>T, NC_000005.9:g.74442443C>T, NG_053151.1:g.95280G>A, NM_001372053.1:c.2793G>A, NM_001164443.1:c.2793G>A, XM_011543298.4:c.2796G>A, XM_011543298.3:c.2796G>A, XM_011543298.2:c.2796G>A, XM_011543298.1:c.2796G>A, XM_011543300.4:c.2796G>A, XM_011543300.3:c.2796G>A, XM_011543300.2:c.2796G>A, XM_011543300.1:c.2796G>A, XM_011543301.4:c.2796G>A, XM_011543301.3:c.2796G>A, XM_011543301.2:c.2796G>A, XM_011543301.1:c.2796G>A, XM_017009318.3:c.2796G>A, XM_017009318.2:c.2796G>A, XM_017009318.1:c.2796G>A, XM_017009322.3:c.2796G>A, XM_017009322.2:c.2796G>A, XM_017009322.1:c.2796G>A, XM_024446010.2:c.2694G>A, XM_024446010.1:c.2694G>A, XM_024446011.2:c.2406G>A, XM_024446011.1:c.2406G>A, XM_017009319.2:c.2505G>A, XM_017009319.1:c.2505G>A, XM_011543302.2:c.2448G>A, XM_011543302.1:c.2448G>A, XM_017009320.2:c.2448G>A, XM_017009320.1:c.2448G>A, XM_017009317.1:c.2697G>A, XM_047417078.1:c.2796G>A, XM_017009321.1:c.1494G>A

                      11.

                      rs1488176812 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,G [Show Flanks]
                        Chromosome:
                        5:75195690 (GRCh38)
                        5:74491515 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:75195689:A:C,NC_000005.10:75195689:A:G
                        Gene:
                        ANKRD31 (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0./0 (GnomAD)
                        C=0.000007/1 (GnomAD_exomes)
                        HGVS:
                        NC_000005.10:g.75195690A>C, NC_000005.10:g.75195690A>G, NC_000005.9:g.74491515A>C, NC_000005.9:g.74491515A>G, NG_053151.1:g.46208T>G, NG_053151.1:g.46208T>C, NM_001372053.1:c.958T>G, NM_001372053.1:c.958T>C, NM_001164443.1:c.958T>G, NM_001164443.1:c.958T>C, XM_011543298.4:c.961T>G, XM_011543298.4:c.961T>C, XM_011543298.3:c.961T>G, XM_011543298.3:c.961T>C, XM_011543298.2:c.961T>G, XM_011543298.2:c.961T>C, XM_011543298.1:c.961T>G, XM_011543298.1:c.961T>C, XM_011543300.4:c.961T>G, XM_011543300.4:c.961T>C, XM_011543300.3:c.961T>G, XM_011543300.3:c.961T>C, XM_011543300.2:c.961T>G, XM_011543300.2:c.961T>C, XM_011543300.1:c.961T>G, XM_011543300.1:c.961T>C, XM_011543301.4:c.961T>G, XM_011543301.4:c.961T>C, XM_011543301.3:c.961T>G, XM_011543301.3:c.961T>C, XM_011543301.2:c.961T>G, XM_011543301.2:c.961T>C, XM_011543301.1:c.961T>G, XM_011543301.1:c.961T>C, XM_017009318.3:c.961T>G, XM_017009318.3:c.961T>C, XM_017009318.2:c.961T>G, XM_017009318.2:c.961T>C, XM_017009318.1:c.961T>G, XM_017009318.1:c.961T>C, XM_017009322.3:c.961T>G, XM_017009322.3:c.961T>C, XM_017009322.2:c.961T>G, XM_017009322.2:c.961T>C, XM_017009322.1:c.961T>G, XM_017009322.1:c.961T>C, XM_024446010.2:c.859T>G, XM_024446010.2:c.859T>C, XM_024446010.1:c.859T>G, XM_024446010.1:c.859T>C, XM_011543302.2:c.613T>G, XM_011543302.2:c.613T>C, XM_011543302.1:c.613T>G, XM_011543302.1:c.613T>C, XM_017009320.2:c.613T>G, XM_017009320.2:c.613T>C, XM_017009320.1:c.613T>G, XM_017009320.1:c.613T>C, XM_017009317.1:c.862T>G, XM_017009317.1:c.862T>C, XM_047417078.1:c.961T>G, XM_047417078.1:c.961T>C, XM_017009321.1:c.-61T>G, XM_017009321.1:c.-61T>C, NP_001358982.1:p.Cys320Gly, NP_001358982.1:p.Cys320Arg, NP_001157915.1:p.Cys320Gly, NP_001157915.1:p.Cys320Arg, XP_011541600.1:p.Cys321Gly, XP_011541600.1:p.Cys321Arg, XP_011541602.1:p.Cys321Gly, XP_011541602.1:p.Cys321Arg, XP_011541603.1:p.Cys321Gly, XP_011541603.1:p.Cys321Arg, XP_016864807.1:p.Cys321Gly, XP_016864807.1:p.Cys321Arg, XP_016864811.1:p.Cys321Gly, XP_016864811.1:p.Cys321Arg, XP_024301778.1:p.Cys287Gly, XP_024301778.1:p.Cys287Arg, XP_011541604.1:p.Cys205Gly, XP_011541604.1:p.Cys205Arg, XP_016864809.1:p.Cys205Gly, XP_016864809.1:p.Cys205Arg, XP_016864806.1:p.Cys288Gly, XP_016864806.1:p.Cys288Arg, XP_047273034.1:p.Cys321Gly, XP_047273034.1:p.Cys321Arg

                        12.

                        rs1487562457 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CT>- [Show Flanks]
                          Chromosome:
                          5:75105208 (GRCh38)
                          5:74401033 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:75105205:CTCT:CT
                          Gene:
                          ANKRD31 (Varview)
                          Functional Consequence:
                          frameshift_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          CTCT=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          -=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000005.10:g.75105206CT[1], NC_000005.9:g.74401031CT[1], NG_053151.1:g.136689AG[1], NM_001372053.1:c.4352_4353del, NM_001164443.1:c.4181_4182del, XM_011543298.4:c.4355_4356del, XM_011543298.3:c.4355_4356del, XM_011543298.2:c.4355_4356del, XM_011543298.1:c.4355_4356del, XM_011543300.4:c.4355_4356del, XM_011543300.3:c.4355_4356del, XM_011543300.2:c.4355_4356del, XM_011543300.1:c.4355_4356del, XM_011543301.4:c.4184_4185del, XM_011543301.3:c.4184_4185del, XM_011543301.2:c.4184_4185del, XM_011543301.1:c.4184_4185del, XM_017009318.3:c.4355_4356del, XM_017009318.2:c.4355_4356del, XM_017009318.1:c.4355_4356del, XM_017009322.3:c.4170_4171del, XM_017009322.2:c.4170_4171del, XM_017009322.1:c.4170_4171del, XM_024446010.2:c.4253_4254del, XM_024446010.1:c.4253_4254del, XM_024446011.2:c.3965_3966del, XM_024446011.1:c.3965_3966del, XM_017009319.2:c.4064_4065del, XM_017009319.1:c.4064_4065del, XM_011543302.2:c.4007_4008del, XM_011543302.1:c.4007_4008del, XM_017009320.2:c.4007_4008del, XM_017009320.1:c.4007_4008del, XM_017009317.1:c.4256_4257del, XM_047417078.1:c.4355_4356del, XM_017009321.1:c.3053_3054del, NP_001358982.1:p.Glu1451fs, NP_001157915.1:p.Glu1394fs, XP_011541600.1:p.Glu1452fs, XP_011541602.1:p.Glu1452fs, XP_011541603.1:p.Glu1395fs, XP_016864807.1:p.Glu1452fs, XP_016864811.1:p.Arg1390fs, XP_024301778.1:p.Glu1418fs, XP_024301779.1:p.Glu1322fs, XP_016864808.1:p.Glu1355fs, XP_011541604.1:p.Glu1336fs, XP_016864809.1:p.Glu1336fs, XP_016864806.1:p.Glu1419fs, XP_047273034.1:p.Glu1452fs, XP_016864810.1:p.Glu1018fs

                          13.

                          rs1485813671 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            5:75193572 (GRCh38)
                            5:74489397 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:75193571:G:A
                            Gene:
                            ANKRD31 (Varview)
                            Functional Consequence:
                            intron_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000005.10:g.75193572G>A, NC_000005.9:g.74489397G>A, NG_053151.1:g.48326C>T, NM_001372053.1:c.1037C>T, NM_001164443.1:c.1037C>T, XM_011543298.4:c.1040C>T, XM_011543298.3:c.1040C>T, XM_011543298.2:c.1040C>T, XM_011543298.1:c.1040C>T, XM_011543300.4:c.1040C>T, XM_011543300.3:c.1040C>T, XM_011543300.2:c.1040C>T, XM_011543300.1:c.1040C>T, XM_011543301.4:c.1040C>T, XM_011543301.3:c.1040C>T, XM_011543301.2:c.1040C>T, XM_011543301.1:c.1040C>T, XM_017009318.3:c.1040C>T, XM_017009318.2:c.1040C>T, XM_017009318.1:c.1040C>T, XM_017009322.3:c.1040C>T, XM_017009322.2:c.1040C>T, XM_017009322.1:c.1040C>T, XM_024446010.2:c.938C>T, XM_024446010.1:c.938C>T, XM_024446011.2:c.650C>T, XM_024446011.1:c.650C>T, XM_017009319.2:c.749C>T, XM_017009319.1:c.749C>T, XM_011543302.2:c.692C>T, XM_011543302.1:c.692C>T, XM_017009320.2:c.692C>T, XM_017009320.1:c.692C>T, XM_017009317.1:c.941C>T, XM_047417078.1:c.1040C>T, NP_001358982.1:p.Pro346Leu, NP_001157915.1:p.Pro346Leu, XP_011541600.1:p.Pro347Leu, XP_011541602.1:p.Pro347Leu, XP_011541603.1:p.Pro347Leu, XP_016864807.1:p.Pro347Leu, XP_016864811.1:p.Pro347Leu, XP_024301778.1:p.Pro313Leu, XP_024301779.1:p.Pro217Leu, XP_016864808.1:p.Pro250Leu, XP_011541604.1:p.Pro231Leu, XP_016864809.1:p.Pro231Leu, XP_016864806.1:p.Pro314Leu, XP_047273034.1:p.Pro347Leu

                            14.

                            rs1483953454 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              5:75195832 (GRCh38)
                              5:74491657 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:75195831:A:G
                              Gene:
                              ANKRD31 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              G=0.000007/1 (GnomAD_exomes)
                              HGVS:

                              15.

                              rs1483918112 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                5:75146524 (GRCh38)
                                5:74442349 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:75146523:G:A
                                Gene:
                                ANKRD31 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000005.10:g.75146524G>A, NC_000005.9:g.74442349G>A, NG_053151.1:g.95374C>T, NM_001372053.1:c.2887C>T, NM_001164443.1:c.2887C>T, XM_011543298.4:c.2890C>T, XM_011543298.3:c.2890C>T, XM_011543298.2:c.2890C>T, XM_011543298.1:c.2890C>T, XM_011543300.4:c.2890C>T, XM_011543300.3:c.2890C>T, XM_011543300.2:c.2890C>T, XM_011543300.1:c.2890C>T, XM_011543301.4:c.2890C>T, XM_011543301.3:c.2890C>T, XM_011543301.2:c.2890C>T, XM_011543301.1:c.2890C>T, XM_017009318.3:c.2890C>T, XM_017009318.2:c.2890C>T, XM_017009318.1:c.2890C>T, XM_017009322.3:c.2890C>T, XM_017009322.2:c.2890C>T, XM_017009322.1:c.2890C>T, XM_024446010.2:c.2788C>T, XM_024446010.1:c.2788C>T, XM_024446011.2:c.2500C>T, XM_024446011.1:c.2500C>T, XM_017009319.2:c.2599C>T, XM_017009319.1:c.2599C>T, XM_011543302.2:c.2542C>T, XM_011543302.1:c.2542C>T, XM_017009320.2:c.2542C>T, XM_017009320.1:c.2542C>T, XM_017009317.1:c.2791C>T, XM_047417078.1:c.2890C>T, XM_017009321.1:c.1588C>T

                                16.

                                rs1483816475 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  5:75104624 (GRCh38)
                                  5:74400449 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:75104623:T:C
                                  Gene:
                                  ANKRD31 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000005.10:g.75104624T>C, NC_000005.9:g.74400449T>C, NG_053151.1:g.137274A>G, NM_001372053.1:c.4935A>G, NM_001164443.1:c.4764A>G, XM_011543298.4:c.4938A>G, XM_011543298.3:c.4938A>G, XM_011543298.2:c.4938A>G, XM_011543298.1:c.4938A>G, XM_011543300.4:c.4938A>G, XM_011543300.3:c.4938A>G, XM_011543300.2:c.4938A>G, XM_011543300.1:c.4938A>G, XM_011543301.4:c.4767A>G, XM_011543301.3:c.4767A>G, XM_011543301.2:c.4767A>G, XM_011543301.1:c.4767A>G, XM_017009318.3:c.4938A>G, XM_017009318.2:c.4938A>G, XM_017009318.1:c.4938A>G, XM_024446010.2:c.4836A>G, XM_024446010.1:c.4836A>G, XM_024446011.2:c.4548A>G, XM_024446011.1:c.4548A>G, XM_017009319.2:c.4647A>G, XM_017009319.1:c.4647A>G, XM_011543302.2:c.4590A>G, XM_011543302.1:c.4590A>G, XM_017009320.2:c.4590A>G, XM_017009320.1:c.4590A>G, XM_017009317.1:c.4839A>G, XM_047417078.1:c.4938A>G, XM_017009321.1:c.3636A>G

                                  17.

                                  rs1483415025 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    5:75105138 (GRCh38)
                                    5:74400963 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:75105137:A:T
                                    Gene:
                                    ANKRD31 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000023/6 (TOPMED)
                                    T=0.000035/5 (GnomAD_exomes)
                                    T=0.000156/1 (1000Genomes)
                                    A=0.5/1 (SGDP_PRJ)
                                    HGVS:
                                    NC_000005.10:g.75105138A>T, NC_000005.9:g.74400963A>T, NG_053151.1:g.136760T>A, NM_001372053.1:c.4421T>A, NM_001164443.1:c.4250T>A, XM_011543298.4:c.4424T>A, XM_011543298.3:c.4424T>A, XM_011543298.2:c.4424T>A, XM_011543298.1:c.4424T>A, XM_011543300.4:c.4424T>A, XM_011543300.3:c.4424T>A, XM_011543300.2:c.4424T>A, XM_011543300.1:c.4424T>A, XM_011543301.4:c.4253T>A, XM_011543301.3:c.4253T>A, XM_011543301.2:c.4253T>A, XM_011543301.1:c.4253T>A, XM_017009318.3:c.4424T>A, XM_017009318.2:c.4424T>A, XM_017009318.1:c.4424T>A, XM_017009322.3:c.*60T>A, XM_017009322.2:c.*60T>A, XM_017009322.1:c.*60T>A, XM_024446010.2:c.4322T>A, XM_024446010.1:c.4322T>A, XM_024446011.2:c.4034T>A, XM_024446011.1:c.4034T>A, XM_017009319.2:c.4133T>A, XM_017009319.1:c.4133T>A, XM_011543302.2:c.4076T>A, XM_011543302.1:c.4076T>A, XM_017009320.2:c.4076T>A, XM_017009320.1:c.4076T>A, XM_017009317.1:c.4325T>A, XM_047417078.1:c.4424T>A, XM_017009321.1:c.3122T>A, NP_001358982.1:p.Val1474Asp, NP_001157915.1:p.Val1417Asp, XP_011541600.1:p.Val1475Asp, XP_011541602.1:p.Val1475Asp, XP_011541603.1:p.Val1418Asp, XP_016864807.1:p.Val1475Asp, XP_024301778.1:p.Val1441Asp, XP_024301779.1:p.Val1345Asp, XP_016864808.1:p.Val1378Asp, XP_011541604.1:p.Val1359Asp, XP_016864809.1:p.Val1359Asp, XP_016864806.1:p.Val1442Asp, XP_047273034.1:p.Val1475Asp, XP_016864810.1:p.Val1041Asp

                                    18.

                                    rs1483071476 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A,C [Show Flanks]
                                      Chromosome:
                                      5:75193398 (GRCh38)
                                      5:74489223 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:75193397:T:A,NC_000005.10:75193397:T:C
                                      Gene:
                                      ANKRD31 (Varview)
                                      Functional Consequence:
                                      intron_variant,missense_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_000005.10:g.75193398T>A, NC_000005.10:g.75193398T>C, NC_000005.9:g.74489223T>A, NC_000005.9:g.74489223T>C, NG_053151.1:g.48500A>T, NG_053151.1:g.48500A>G, NM_001372053.1:c.1211A>T, NM_001372053.1:c.1211A>G, NM_001164443.1:c.1211A>T, NM_001164443.1:c.1211A>G, XM_011543298.4:c.1214A>T, XM_011543298.4:c.1214A>G, XM_011543298.3:c.1214A>T, XM_011543298.3:c.1214A>G, XM_011543298.2:c.1214A>T, XM_011543298.2:c.1214A>G, XM_011543298.1:c.1214A>T, XM_011543298.1:c.1214A>G, XM_011543300.4:c.1214A>T, XM_011543300.4:c.1214A>G, XM_011543300.3:c.1214A>T, XM_011543300.3:c.1214A>G, XM_011543300.2:c.1214A>T, XM_011543300.2:c.1214A>G, XM_011543300.1:c.1214A>T, XM_011543300.1:c.1214A>G, XM_011543301.4:c.1214A>T, XM_011543301.4:c.1214A>G, XM_011543301.3:c.1214A>T, XM_011543301.3:c.1214A>G, XM_011543301.2:c.1214A>T, XM_011543301.2:c.1214A>G, XM_011543301.1:c.1214A>T, XM_011543301.1:c.1214A>G, XM_017009318.3:c.1214A>T, XM_017009318.3:c.1214A>G, XM_017009318.2:c.1214A>T, XM_017009318.2:c.1214A>G, XM_017009318.1:c.1214A>T, XM_017009318.1:c.1214A>G, XM_017009322.3:c.1214A>T, XM_017009322.3:c.1214A>G, XM_017009322.2:c.1214A>T, XM_017009322.2:c.1214A>G, XM_017009322.1:c.1214A>T, XM_017009322.1:c.1214A>G, XM_024446010.2:c.1112A>T, XM_024446010.2:c.1112A>G, XM_024446010.1:c.1112A>T, XM_024446010.1:c.1112A>G, XM_024446011.2:c.824A>T, XM_024446011.2:c.824A>G, XM_024446011.1:c.824A>T, XM_024446011.1:c.824A>G, XM_017009319.2:c.923A>T, XM_017009319.2:c.923A>G, XM_017009319.1:c.923A>T, XM_017009319.1:c.923A>G, XM_011543302.2:c.866A>T, XM_011543302.2:c.866A>G, XM_011543302.1:c.866A>T, XM_011543302.1:c.866A>G, XM_017009320.2:c.866A>T, XM_017009320.2:c.866A>G, XM_017009320.1:c.866A>T, XM_017009320.1:c.866A>G, XM_017009317.1:c.1115A>T, XM_017009317.1:c.1115A>G, XM_047417078.1:c.1214A>T, XM_047417078.1:c.1214A>G, NP_001358982.1:p.His404Leu, NP_001358982.1:p.His404Arg, NP_001157915.1:p.His404Leu, NP_001157915.1:p.His404Arg, XP_011541600.1:p.His405Leu, XP_011541600.1:p.His405Arg, XP_011541602.1:p.His405Leu, XP_011541602.1:p.His405Arg, XP_011541603.1:p.His405Leu, XP_011541603.1:p.His405Arg, XP_016864807.1:p.His405Leu, XP_016864807.1:p.His405Arg, XP_016864811.1:p.His405Leu, XP_016864811.1:p.His405Arg, XP_024301778.1:p.His371Leu, XP_024301778.1:p.His371Arg, XP_024301779.1:p.His275Leu, XP_024301779.1:p.His275Arg, XP_016864808.1:p.His308Leu, XP_016864808.1:p.His308Arg, XP_011541604.1:p.His289Leu, XP_011541604.1:p.His289Arg, XP_016864809.1:p.His289Leu, XP_016864809.1:p.His289Arg, XP_016864806.1:p.His372Leu, XP_016864806.1:p.His372Arg, XP_047273034.1:p.His405Leu, XP_047273034.1:p.His405Arg

                                      19.

                                      rs1482862884 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        5:75105027 (GRCh38)
                                        5:74400852 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:75105026:C:G
                                        Gene:
                                        ANKRD31 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000005.10:g.75105027C>G, NC_000005.9:g.74400852C>G, NG_053151.1:g.136871G>C, NM_001372053.1:c.4532G>C, NM_001164443.1:c.4361G>C, XM_011543298.4:c.4535G>C, XM_011543298.3:c.4535G>C, XM_011543298.2:c.4535G>C, XM_011543298.1:c.4535G>C, XM_011543300.4:c.4535G>C, XM_011543300.3:c.4535G>C, XM_011543300.2:c.4535G>C, XM_011543300.1:c.4535G>C, XM_011543301.4:c.4364G>C, XM_011543301.3:c.4364G>C, XM_011543301.2:c.4364G>C, XM_011543301.1:c.4364G>C, XM_017009318.3:c.4535G>C, XM_017009318.2:c.4535G>C, XM_017009318.1:c.4535G>C, XM_024446010.2:c.4433G>C, XM_024446010.1:c.4433G>C, XM_024446011.2:c.4145G>C, XM_024446011.1:c.4145G>C, XM_017009319.2:c.4244G>C, XM_017009319.1:c.4244G>C, XM_011543302.2:c.4187G>C, XM_011543302.1:c.4187G>C, XM_017009320.2:c.4187G>C, XM_017009320.1:c.4187G>C, XM_017009317.1:c.4436G>C, XM_047417078.1:c.4535G>C, XM_017009321.1:c.3233G>C, NP_001358982.1:p.Ser1511Thr, NP_001157915.1:p.Ser1454Thr, XP_011541600.1:p.Ser1512Thr, XP_011541602.1:p.Ser1512Thr, XP_011541603.1:p.Ser1455Thr, XP_016864807.1:p.Ser1512Thr, XP_024301778.1:p.Ser1478Thr, XP_024301779.1:p.Ser1382Thr, XP_016864808.1:p.Ser1415Thr, XP_011541604.1:p.Ser1396Thr, XP_016864809.1:p.Ser1396Thr, XP_016864806.1:p.Ser1479Thr, XP_047273034.1:p.Ser1512Thr, XP_016864810.1:p.Ser1078Thr

                                        20.

                                        rs1482435047 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          5:75112538 (GRCh38)
                                          5:74408363 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:75112537:A:C
                                          Gene:
                                          ANKRD31 (Varview)
                                          Functional Consequence:
                                          intron_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000007/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000005.10:g.75112538A>C, NC_000005.9:g.74408363A>C, NG_053151.1:g.129360T>G, NM_001372053.1:c.4218T>G, NM_001164443.1:c.4047T>G, XM_011543298.4:c.4221T>G, XM_011543298.3:c.4221T>G, XM_011543298.2:c.4221T>G, XM_011543298.1:c.4221T>G, XM_011543300.4:c.4221T>G, XM_011543300.3:c.4221T>G, XM_011543300.2:c.4221T>G, XM_011543300.1:c.4221T>G, XM_011543301.4:c.4050T>G, XM_011543301.3:c.4050T>G, XM_011543301.2:c.4050T>G, XM_011543301.1:c.4050T>G, XM_017009318.3:c.4221T>G, XM_017009318.2:c.4221T>G, XM_017009318.1:c.4221T>G, XM_024446010.2:c.4119T>G, XM_024446010.1:c.4119T>G, XM_024446011.2:c.3831T>G, XM_024446011.1:c.3831T>G, XM_017009319.2:c.3930T>G, XM_017009319.1:c.3930T>G, XM_011543302.2:c.3873T>G, XM_011543302.1:c.3873T>G, XM_017009320.2:c.3873T>G, XM_017009320.1:c.3873T>G, XM_017009317.1:c.4122T>G, XM_047417078.1:c.4221T>G, XM_017009321.1:c.2919T>G, NP_001358982.1:p.Phe1406Leu, NP_001157915.1:p.Phe1349Leu, XP_011541600.1:p.Phe1407Leu, XP_011541602.1:p.Phe1407Leu, XP_011541603.1:p.Phe1350Leu, XP_016864807.1:p.Phe1407Leu, XP_024301778.1:p.Phe1373Leu, XP_024301779.1:p.Phe1277Leu, XP_016864808.1:p.Phe1310Leu, XP_011541604.1:p.Phe1291Leu, XP_016864809.1:p.Phe1291Leu, XP_016864806.1:p.Phe1374Leu, XP_047273034.1:p.Phe1407Leu, XP_016864810.1:p.Phe973Leu

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