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Items: 1 to 20 of 1046

1.

rs1490583774 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    6:35085920 (GRCh38)
    6:35053697 (GRCh37)
    Canonical SPDI:
    NC_000006.12:35085919:G:A
    Gene:
    ANKS1A (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    A=0.005/1 (Vietnamese)
    HGVS:
    NC_000006.12:g.35085920G>A, NC_000006.11:g.35053697G>A, XM_005248964.4:c.3350G>A, XM_005248964.3:c.3350G>A, XM_005248964.2:c.3350G>A, XM_005248964.1:c.3350G>A, XM_011514431.4:c.3353G>A, XM_011514431.3:c.3353G>A, XM_011514431.2:c.3353G>A, XM_011514431.1:c.3353G>A, XM_011514432.4:c.3350G>A, XM_011514432.3:c.3350G>A, XM_011514432.2:c.3350G>A, XM_011514432.1:c.3350G>A, XM_011514434.4:c.3290G>A, XM_011514434.3:c.3290G>A, XM_011514434.2:c.3290G>A, XM_011514434.1:c.3290G>A, XM_011514435.4:c.3287G>A, XM_011514435.3:c.3287G>A, XM_011514435.2:c.3287G>A, XM_011514435.1:c.3287G>A, XM_006715036.3:c.3353G>A, XM_006715036.2:c.3353G>A, XM_006715036.1:c.3353G>A, NM_015245.3:c.3287G>A, NM_015245.2:c.3287G>A, XM_011514433.2:c.3353G>A, XM_011514433.1:c.3353G>A, XM_024446383.2:c.3350G>A, XM_024446383.1:c.3350G>A, XM_017010593.2:c.1664G>A, XM_017010593.1:c.1664G>A, XM_047418491.1:c.3290G>A, XM_047418492.1:c.1667G>A, XP_005249021.1:p.Gly1117Asp, XP_011512733.1:p.Gly1118Asp, XP_011512734.1:p.Gly1117Asp, XP_011512736.1:p.Gly1097Asp, XP_011512737.1:p.Gly1096Asp, XP_006715099.1:p.Gly1118Asp, NP_056060.2:p.Gly1096Asp, XP_011512735.1:p.Gly1118Asp, XP_024302151.1:p.Gly1117Asp, XP_016866082.1:p.Gly555Asp, XP_047274447.1:p.Gly1097Asp, XP_047274448.1:p.Gly556Asp

    2.

    rs1488886521 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      6:34981833 (GRCh38)
      6:34949610 (GRCh37)
      Canonical SPDI:
      NC_000006.12:34981832:G:A
      Gene:
      ANKS1A (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:

      3.

      rs1487661117 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        6:34889447 (GRCh38)
        6:34857224 (GRCh37)
        Canonical SPDI:
        NC_000006.12:34889446:C:A
        Gene:
        TAF11 (Varview), ANKS1A (Varview)
        Functional Consequence:
        coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.000015/4 (TOPMED)
        HGVS:
        NC_000006.12:g.34889447C>A, NC_000006.11:g.34857224C>A, XM_005248964.4:c.45C>A, XM_005248964.3:c.45C>A, XM_005248964.2:c.45C>A, XM_005248964.1:c.45C>A, XM_011514431.4:c.45C>A, XM_011514431.3:c.45C>A, XM_011514431.2:c.45C>A, XM_011514431.1:c.45C>A, XM_011514432.4:c.45C>A, XM_011514432.3:c.45C>A, XM_011514432.2:c.45C>A, XM_011514432.1:c.45C>A, XM_011514434.4:c.45C>A, XM_011514434.3:c.45C>A, XM_011514434.2:c.45C>A, XM_011514434.1:c.45C>A, XM_011514435.4:c.45C>A, XM_011514435.3:c.45C>A, XM_011514435.2:c.45C>A, XM_011514435.1:c.45C>A, XM_006715036.3:c.45C>A, XM_006715036.2:c.45C>A, XM_006715036.1:c.45C>A, NM_015245.3:c.45C>A, NM_015245.2:c.45C>A, XM_011514433.2:c.45C>A, XM_011514433.1:c.45C>A, XM_024446383.2:c.45C>A, XM_024446383.1:c.45C>A, XM_047418491.1:c.45C>A, XP_005249021.1:p.His15Gln, XP_011512733.1:p.His15Gln, XP_011512734.1:p.His15Gln, XP_011512736.1:p.His15Gln, XP_011512737.1:p.His15Gln, XP_006715099.1:p.His15Gln, NP_056060.2:p.His15Gln, XP_011512735.1:p.His15Gln, XP_024302151.1:p.His15Gln, XP_047274447.1:p.His15Gln

        4.

        rs1487618909 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GGTGGCTCTGGGGGCGGCGGCGGCGGC>- [Show Flanks]
          Chromosome:
          6:34889514 (GRCh38)
          6:34857291 (GRCh37)
          Canonical SPDI:
          NC_000006.12:34889501:GGCGGCGGCGGCGGTGGCTCTGGGGGCGGCGGCGGCGGC:GGCGGCGGCGGC
          Gene:
          TAF11 (Varview), ANKS1A (Varview)
          Functional Consequence:
          coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,inframe_deletion
          Validated:
          by frequency,by alfa
          MAF:
          GGCGGCGGCGGC=0./0 (ALFA)
          -=0.000007/1 (GnomAD)
          HGVS:
          NC_000006.12:g.34889514_34889540del, NC_000006.11:g.34857291_34857317del, XM_005248964.4:c.112_138del, XM_005248964.3:c.112_138del, XM_005248964.2:c.112_138del, XM_005248964.1:c.112_138del, XM_011514431.4:c.112_138del, XM_011514431.3:c.112_138del, XM_011514431.2:c.112_138del, XM_011514431.1:c.112_138del, XM_011514432.4:c.112_138del, XM_011514432.3:c.112_138del, XM_011514432.2:c.112_138del, XM_011514432.1:c.112_138del, XM_011514434.4:c.112_138del, XM_011514434.3:c.112_138del, XM_011514434.2:c.112_138del, XM_011514434.1:c.112_138del, XM_011514435.4:c.112_138del, XM_011514435.3:c.112_138del, XM_011514435.2:c.112_138del, XM_011514435.1:c.112_138del, XM_006715036.3:c.112_138del, XM_006715036.2:c.112_138del, XM_006715036.1:c.112_138del, NM_015245.3:c.112_138del, NM_015245.2:c.112_138del, XM_011514433.2:c.112_138del, XM_011514433.1:c.112_138del, XM_024446383.2:c.112_138del, XM_024446383.1:c.112_138del, XM_047418491.1:c.112_138del, XP_005249021.1:p.Gly38_Gly46del, XP_011512733.1:p.Gly38_Gly46del, XP_011512734.1:p.Gly38_Gly46del, XP_011512736.1:p.Gly38_Gly46del, XP_011512737.1:p.Gly38_Gly46del, XP_006715099.1:p.Gly38_Gly46del, NP_056060.2:p.Gly38_Gly46del, XP_011512735.1:p.Gly38_Gly46del, XP_024302151.1:p.Gly38_Gly46del, XP_047274447.1:p.Gly38_Gly46del

          5.

          rs1487204149 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            6:35081053 (GRCh38)
            6:35048830 (GRCh37)
            Canonical SPDI:
            NC_000006.12:35081052:G:A
            Gene:
            ANKS1A (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000006.12:g.35081053G>A, NC_000006.11:g.35048830G>A, XM_005248964.4:c.2667G>A, XM_005248964.3:c.2667G>A, XM_005248964.2:c.2667G>A, XM_005248964.1:c.2667G>A, XM_011514431.4:c.2667G>A, XM_011514431.3:c.2667G>A, XM_011514431.2:c.2667G>A, XM_011514431.1:c.2667G>A, XM_011514432.4:c.2667G>A, XM_011514432.3:c.2667G>A, XM_011514432.2:c.2667G>A, XM_011514432.1:c.2667G>A, XM_011514434.4:c.2604G>A, XM_011514434.3:c.2604G>A, XM_011514434.2:c.2604G>A, XM_011514434.1:c.2604G>A, XM_011514435.4:c.2604G>A, XM_011514435.3:c.2604G>A, XM_011514435.2:c.2604G>A, XM_011514435.1:c.2604G>A, XM_006715036.3:c.2667G>A, XM_006715036.2:c.2667G>A, XM_006715036.1:c.2667G>A, NM_015245.3:c.2604G>A, NM_015245.2:c.2604G>A, XM_011514433.2:c.2667G>A, XM_011514433.1:c.2667G>A, XM_024446383.2:c.2667G>A, XM_024446383.1:c.2667G>A, XM_017010593.2:c.981G>A, XM_017010593.1:c.981G>A, XM_047418491.1:c.2604G>A, XM_047418492.1:c.981G>A

            6.

            rs1486750533 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              6:35018016 (GRCh38)
              6:34985793 (GRCh37)
              Canonical SPDI:
              NC_000006.12:35018015:A:G
              Gene:
              ANKS1A (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000006.12:g.35018016A>G, NC_000006.11:g.34985793A>G, XM_005248964.4:c.2030A>G, XM_005248964.3:c.2030A>G, XM_005248964.2:c.2030A>G, XM_005248964.1:c.2030A>G, XM_011514431.4:c.2030A>G, XM_011514431.3:c.2030A>G, XM_011514431.2:c.2030A>G, XM_011514431.1:c.2030A>G, XM_011514432.4:c.2030A>G, XM_011514432.3:c.2030A>G, XM_011514432.2:c.2030A>G, XM_011514432.1:c.2030A>G, XM_011514434.4:c.1967A>G, XM_011514434.3:c.1967A>G, XM_011514434.2:c.1967A>G, XM_011514434.1:c.1967A>G, XM_011514435.4:c.1967A>G, XM_011514435.3:c.1967A>G, XM_011514435.2:c.1967A>G, XM_011514435.1:c.1967A>G, XM_006715036.3:c.2030A>G, XM_006715036.2:c.2030A>G, XM_006715036.1:c.2030A>G, NM_015245.3:c.1967A>G, NM_015245.2:c.1967A>G, XM_011514433.2:c.2030A>G, XM_011514433.1:c.2030A>G, XM_024446383.2:c.2030A>G, XM_024446383.1:c.2030A>G, XM_017010593.2:c.344A>G, XM_017010593.1:c.344A>G, XM_047418491.1:c.1967A>G, XM_047418492.1:c.344A>G, XP_005249021.1:p.Lys677Arg, XP_011512733.1:p.Lys677Arg, XP_011512734.1:p.Lys677Arg, XP_011512736.1:p.Lys656Arg, XP_011512737.1:p.Lys656Arg, XP_006715099.1:p.Lys677Arg, NP_056060.2:p.Lys656Arg, XP_011512735.1:p.Lys677Arg, XP_024302151.1:p.Lys677Arg, XP_016866082.1:p.Lys115Arg, XP_047274447.1:p.Lys656Arg, XP_047274448.1:p.Lys115Arg

              7.

              rs1486590195 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                6:35079527 (GRCh38)
                6:35047304 (GRCh37)
                Canonical SPDI:
                NC_000006.12:35079526:G:A
                Gene:
                ANKS1A (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000008/2 (TOPMED)
                HGVS:
                NC_000006.12:g.35079527G>A, NC_000006.11:g.35047304G>A, XM_005248964.4:c.2358G>A, XM_005248964.3:c.2358G>A, XM_005248964.2:c.2358G>A, XM_005248964.1:c.2358G>A, XM_011514431.4:c.2358G>A, XM_011514431.3:c.2358G>A, XM_011514431.2:c.2358G>A, XM_011514431.1:c.2358G>A, XM_011514432.4:c.2358G>A, XM_011514432.3:c.2358G>A, XM_011514432.2:c.2358G>A, XM_011514432.1:c.2358G>A, XM_011514434.4:c.2295G>A, XM_011514434.3:c.2295G>A, XM_011514434.2:c.2295G>A, XM_011514434.1:c.2295G>A, XM_011514435.4:c.2295G>A, XM_011514435.3:c.2295G>A, XM_011514435.2:c.2295G>A, XM_011514435.1:c.2295G>A, XM_006715036.3:c.2358G>A, XM_006715036.2:c.2358G>A, XM_006715036.1:c.2358G>A, NM_015245.3:c.2295G>A, NM_015245.2:c.2295G>A, XM_011514433.2:c.2358G>A, XM_011514433.1:c.2358G>A, XM_024446383.2:c.2358G>A, XM_024446383.1:c.2358G>A, XM_017010593.2:c.672G>A, XM_017010593.1:c.672G>A, XM_047418491.1:c.2295G>A, XM_047418492.1:c.672G>A

                8.

                rs1485331382 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  6:35017627 (GRCh38)
                  6:34985404 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:35017626:C:T
                  Gene:
                  ANKS1A (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000006.12:g.35017627C>T, NC_000006.11:g.34985404C>T, XM_005248964.4:c.1641C>T, XM_005248964.3:c.1641C>T, XM_005248964.2:c.1641C>T, XM_005248964.1:c.1641C>T, XM_011514431.4:c.1641C>T, XM_011514431.3:c.1641C>T, XM_011514431.2:c.1641C>T, XM_011514431.1:c.1641C>T, XM_011514432.4:c.1641C>T, XM_011514432.3:c.1641C>T, XM_011514432.2:c.1641C>T, XM_011514432.1:c.1641C>T, XM_011514434.4:c.1578C>T, XM_011514434.3:c.1578C>T, XM_011514434.2:c.1578C>T, XM_011514434.1:c.1578C>T, XM_011514435.4:c.1578C>T, XM_011514435.3:c.1578C>T, XM_011514435.2:c.1578C>T, XM_011514435.1:c.1578C>T, XM_006715036.3:c.1641C>T, XM_006715036.2:c.1641C>T, XM_006715036.1:c.1641C>T, NM_015245.3:c.1578C>T, NM_015245.2:c.1578C>T, XM_011514433.2:c.1641C>T, XM_011514433.1:c.1641C>T, XM_024446383.2:c.1641C>T, XM_024446383.1:c.1641C>T, XM_017010593.2:c.-46C>T, XM_017010593.1:c.-46C>T, XM_047418491.1:c.1578C>T, XM_047418492.1:c.-46C>T

                  9.

                  rs1484779784 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    6:35060228 (GRCh38)
                    6:35028005 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:35060227:A:G
                    Gene:
                    ANKS1A (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0./0 (GnomAD)
                    G=0.000004/1 (GnomAD_exomes)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000006.12:g.35060228A>G, NC_000006.11:g.35028005A>G, XM_005248964.4:c.2222A>G, XM_005248964.3:c.2222A>G, XM_005248964.2:c.2222A>G, XM_005248964.1:c.2222A>G, XM_011514431.4:c.2222A>G, XM_011514431.3:c.2222A>G, XM_011514431.2:c.2222A>G, XM_011514431.1:c.2222A>G, XM_011514432.4:c.2222A>G, XM_011514432.3:c.2222A>G, XM_011514432.2:c.2222A>G, XM_011514432.1:c.2222A>G, XM_011514434.4:c.2159A>G, XM_011514434.3:c.2159A>G, XM_011514434.2:c.2159A>G, XM_011514434.1:c.2159A>G, XM_011514435.4:c.2159A>G, XM_011514435.3:c.2159A>G, XM_011514435.2:c.2159A>G, XM_011514435.1:c.2159A>G, XM_006715036.3:c.2222A>G, XM_006715036.2:c.2222A>G, XM_006715036.1:c.2222A>G, NM_015245.3:c.2159A>G, NM_015245.2:c.2159A>G, XM_011514433.2:c.2222A>G, XM_011514433.1:c.2222A>G, XM_024446383.2:c.2222A>G, XM_024446383.1:c.2222A>G, XM_017010593.2:c.536A>G, XM_017010593.1:c.536A>G, XM_047418491.1:c.2159A>G, XM_047418492.1:c.536A>G, XP_005249021.1:p.Asn741Ser, XP_011512733.1:p.Asn741Ser, XP_011512734.1:p.Asn741Ser, XP_011512736.1:p.Asn720Ser, XP_011512737.1:p.Asn720Ser, XP_006715099.1:p.Asn741Ser, NP_056060.2:p.Asn720Ser, XP_011512735.1:p.Asn741Ser, XP_024302151.1:p.Asn741Ser, XP_016866082.1:p.Asn179Ser, XP_047274447.1:p.Asn720Ser, XP_047274448.1:p.Asn179Ser

                    10.

                    rs1482820782 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      6:35079868 (GRCh38)
                      6:35047645 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:35079867:C:T
                      Gene:
                      ANKS1A (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      HGVS:
                      NC_000006.12:g.35079868C>T, NC_000006.11:g.35047645C>T, XM_005248964.4:c.2547C>T, XM_005248964.3:c.2547C>T, XM_005248964.2:c.2547C>T, XM_005248964.1:c.2547C>T, XM_011514431.4:c.2547C>T, XM_011514431.3:c.2547C>T, XM_011514431.2:c.2547C>T, XM_011514431.1:c.2547C>T, XM_011514432.4:c.2547C>T, XM_011514432.3:c.2547C>T, XM_011514432.2:c.2547C>T, XM_011514432.1:c.2547C>T, XM_011514434.4:c.2484C>T, XM_011514434.3:c.2484C>T, XM_011514434.2:c.2484C>T, XM_011514434.1:c.2484C>T, XM_011514435.4:c.2484C>T, XM_011514435.3:c.2484C>T, XM_011514435.2:c.2484C>T, XM_011514435.1:c.2484C>T, XM_006715036.3:c.2547C>T, XM_006715036.2:c.2547C>T, XM_006715036.1:c.2547C>T, NM_015245.3:c.2484C>T, NM_015245.2:c.2484C>T, XM_011514433.2:c.2547C>T, XM_011514433.1:c.2547C>T, XM_024446383.2:c.2547C>T, XM_024446383.1:c.2547C>T, XM_017010593.2:c.861C>T, XM_017010593.1:c.861C>T, XM_047418491.1:c.2484C>T, XM_047418492.1:c.861C>T

                      11.

                      rs1482537850 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        6:34994382 (GRCh38)
                        6:34962159 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:34994381:A:G
                        Gene:
                        ANKS1A (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000028/1 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000006.12:g.34994382A>G, NC_000006.11:g.34962159A>G, XM_005248964.4:c.1446A>G, XM_005248964.3:c.1446A>G, XM_005248964.2:c.1446A>G, XM_005248964.1:c.1446A>G, XM_011514431.4:c.1446A>G, XM_011514431.3:c.1446A>G, XM_011514431.2:c.1446A>G, XM_011514431.1:c.1446A>G, XM_011514432.4:c.1446A>G, XM_011514432.3:c.1446A>G, XM_011514432.2:c.1446A>G, XM_011514432.1:c.1446A>G, XM_011514434.4:c.1383A>G, XM_011514434.3:c.1383A>G, XM_011514434.2:c.1383A>G, XM_011514434.1:c.1383A>G, XM_011514435.4:c.1383A>G, XM_011514435.3:c.1383A>G, XM_011514435.2:c.1383A>G, XM_011514435.1:c.1383A>G, XM_006715036.3:c.1446A>G, XM_006715036.2:c.1446A>G, XM_006715036.1:c.1446A>G, NM_015245.3:c.1383A>G, NM_015245.2:c.1383A>G, XM_011514433.2:c.1446A>G, XM_011514433.1:c.1446A>G, XM_024446383.2:c.1446A>G, XM_024446383.1:c.1446A>G, XM_047418491.1:c.1383A>G

                        12.

                        rs1482490945 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          6:34983360 (GRCh38)
                          6:34951137 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:34983359:A:T
                          Gene:
                          ANKS1A (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000006.12:g.34983360A>T, NC_000006.11:g.34951137A>T, XM_005248964.4:c.1010A>T, XM_005248964.3:c.1010A>T, XM_005248964.2:c.1010A>T, XM_005248964.1:c.1010A>T, XM_011514431.4:c.1010A>T, XM_011514431.3:c.1010A>T, XM_011514431.2:c.1010A>T, XM_011514431.1:c.1010A>T, XM_011514432.4:c.1010A>T, XM_011514432.3:c.1010A>T, XM_011514432.2:c.1010A>T, XM_011514432.1:c.1010A>T, XM_011514434.4:c.947A>T, XM_011514434.3:c.947A>T, XM_011514434.2:c.947A>T, XM_011514434.1:c.947A>T, XM_011514435.4:c.947A>T, XM_011514435.3:c.947A>T, XM_011514435.2:c.947A>T, XM_011514435.1:c.947A>T, XM_006715036.3:c.1010A>T, XM_006715036.2:c.1010A>T, XM_006715036.1:c.1010A>T, NM_015245.3:c.947A>T, NM_015245.2:c.947A>T, XM_011514433.2:c.1010A>T, XM_011514433.1:c.1010A>T, XM_024446383.2:c.1010A>T, XM_024446383.1:c.1010A>T, XM_047418491.1:c.947A>T, XP_005249021.1:p.Asp337Val, XP_011512733.1:p.Asp337Val, XP_011512734.1:p.Asp337Val, XP_011512736.1:p.Asp316Val, XP_011512737.1:p.Asp316Val, XP_006715099.1:p.Asp337Val, NP_056060.2:p.Asp316Val, XP_011512735.1:p.Asp337Val, XP_024302151.1:p.Asp337Val, XP_047274447.1:p.Asp316Val

                          13.

                          rs1481197167 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            6:35084145 (GRCh38)
                            6:35051922 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:35084144:C:T
                            Gene:
                            ANKS1A (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.000035/1 (TOMMO)
                            HGVS:
                            NC_000006.12:g.35084145C>T, NC_000006.11:g.35051922C>T, XM_005248964.4:c.3082C>T, XM_005248964.3:c.3082C>T, XM_005248964.2:c.3082C>T, XM_005248964.1:c.3082C>T, XM_011514431.4:c.3085C>T, XM_011514431.3:c.3085C>T, XM_011514431.2:c.3085C>T, XM_011514431.1:c.3085C>T, XM_011514432.4:c.3082C>T, XM_011514432.3:c.3082C>T, XM_011514432.2:c.3082C>T, XM_011514432.1:c.3082C>T, XM_011514434.4:c.3022C>T, XM_011514434.3:c.3022C>T, XM_011514434.2:c.3022C>T, XM_011514434.1:c.3022C>T, XM_011514435.4:c.3019C>T, XM_011514435.3:c.3019C>T, XM_011514435.2:c.3019C>T, XM_011514435.1:c.3019C>T, XM_006715036.3:c.3085C>T, XM_006715036.2:c.3085C>T, XM_006715036.1:c.3085C>T, NM_015245.3:c.3019C>T, NM_015245.2:c.3019C>T, XM_011514433.2:c.3085C>T, XM_011514433.1:c.3085C>T, XM_024446383.2:c.3082C>T, XM_024446383.1:c.3082C>T, XM_017010593.2:c.1396C>T, XM_017010593.1:c.1396C>T, XM_047418491.1:c.3022C>T, XM_047418492.1:c.1399C>T, XP_005249021.1:p.Arg1028Trp, XP_011512733.1:p.Arg1029Trp, XP_011512734.1:p.Arg1028Trp, XP_011512736.1:p.Arg1008Trp, XP_011512737.1:p.Arg1007Trp, XP_006715099.1:p.Arg1029Trp, NP_056060.2:p.Arg1007Trp, XP_011512735.1:p.Arg1029Trp, XP_024302151.1:p.Arg1028Trp, XP_016866082.1:p.Arg466Trp, XP_047274447.1:p.Arg1008Trp, XP_047274448.1:p.Arg467Trp

                            14.

                            rs1480039237 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              6:34970090 (GRCh38)
                              6:34937867 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:34970089:C:G
                              Gene:
                              ANKS1A (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              NC_000006.12:g.34970090C>G, NC_000006.11:g.34937867C>G, XM_005248964.4:c.359C>G, XM_005248964.3:c.359C>G, XM_005248964.2:c.359C>G, XM_005248964.1:c.359C>G, XM_011514431.4:c.359C>G, XM_011514431.3:c.359C>G, XM_011514431.2:c.359C>G, XM_011514431.1:c.359C>G, XM_011514432.4:c.359C>G, XM_011514432.3:c.359C>G, XM_011514432.2:c.359C>G, XM_011514432.1:c.359C>G, XM_011514434.4:c.359C>G, XM_011514434.3:c.359C>G, XM_011514434.2:c.359C>G, XM_011514434.1:c.359C>G, XM_011514435.4:c.359C>G, XM_011514435.3:c.359C>G, XM_011514435.2:c.359C>G, XM_011514435.1:c.359C>G, XM_006715036.3:c.359C>G, XM_006715036.2:c.359C>G, XM_006715036.1:c.359C>G, NM_015245.3:c.359C>G, NM_015245.2:c.359C>G, XM_011514433.2:c.359C>G, XM_011514433.1:c.359C>G, XM_024446383.2:c.359C>G, XM_024446383.1:c.359C>G, XM_047418491.1:c.359C>G, XP_005249021.1:p.Ala120Gly, XP_011512733.1:p.Ala120Gly, XP_011512734.1:p.Ala120Gly, XP_011512736.1:p.Ala120Gly, XP_011512737.1:p.Ala120Gly, XP_006715099.1:p.Ala120Gly, NP_056060.2:p.Ala120Gly, XP_011512735.1:p.Ala120Gly, XP_024302151.1:p.Ala120Gly, XP_047274447.1:p.Ala120Gly

                              15.

                              rs1478472368 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                6:34981711 (GRCh38)
                                6:34949488 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:34981710:C:T
                                Gene:
                                ANKS1A (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                HGVS:

                                16.

                                rs1477065287 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  6:35085850 (GRCh38)
                                  6:35053627 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:35085849:G:A
                                  Gene:
                                  ANKS1A (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_000006.12:g.35085850G>A, NC_000006.11:g.35053627G>A, XM_005248964.4:c.3280G>A, XM_005248964.3:c.3280G>A, XM_005248964.2:c.3280G>A, XM_005248964.1:c.3280G>A, XM_011514431.4:c.3283G>A, XM_011514431.3:c.3283G>A, XM_011514431.2:c.3283G>A, XM_011514431.1:c.3283G>A, XM_011514432.4:c.3280G>A, XM_011514432.3:c.3280G>A, XM_011514432.2:c.3280G>A, XM_011514432.1:c.3280G>A, XM_011514434.4:c.3220G>A, XM_011514434.3:c.3220G>A, XM_011514434.2:c.3220G>A, XM_011514434.1:c.3220G>A, XM_011514435.4:c.3217G>A, XM_011514435.3:c.3217G>A, XM_011514435.2:c.3217G>A, XM_011514435.1:c.3217G>A, XM_006715036.3:c.3283G>A, XM_006715036.2:c.3283G>A, XM_006715036.1:c.3283G>A, NM_015245.3:c.3217G>A, NM_015245.2:c.3217G>A, XM_011514433.2:c.3283G>A, XM_011514433.1:c.3283G>A, XM_024446383.2:c.3280G>A, XM_024446383.1:c.3280G>A, XM_017010593.2:c.1594G>A, XM_017010593.1:c.1594G>A, XM_047418491.1:c.3220G>A, XM_047418492.1:c.1597G>A, XP_005249021.1:p.Ala1094Thr, XP_011512733.1:p.Ala1095Thr, XP_011512734.1:p.Ala1094Thr, XP_011512736.1:p.Ala1074Thr, XP_011512737.1:p.Ala1073Thr, XP_006715099.1:p.Ala1095Thr, NP_056060.2:p.Ala1073Thr, XP_011512735.1:p.Ala1095Thr, XP_024302151.1:p.Ala1094Thr, XP_016866082.1:p.Ala532Thr, XP_047274447.1:p.Ala1074Thr, XP_047274448.1:p.Ala533Thr

                                  17.

                                  rs1474420958 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,C [Show Flanks]
                                    Chromosome:
                                    6:34982802 (GRCh38)
                                    6:34950579 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:34982801:T:A,NC_000006.12:34982801:T:C
                                    Gene:
                                    ANKS1A (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000447/2 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000446/2 (Estonian)
                                    HGVS:
                                    NC_000006.12:g.34982802T>A, NC_000006.12:g.34982802T>C, NC_000006.11:g.34950579T>A, NC_000006.11:g.34950579T>C, XM_005248964.4:c.846T>A, XM_005248964.4:c.846T>C, XM_005248964.3:c.846T>A, XM_005248964.3:c.846T>C, XM_005248964.2:c.846T>A, XM_005248964.2:c.846T>C, XM_005248964.1:c.846T>A, XM_005248964.1:c.846T>C, XM_011514431.4:c.846T>A, XM_011514431.4:c.846T>C, XM_011514431.3:c.846T>A, XM_011514431.3:c.846T>C, XM_011514431.2:c.846T>A, XM_011514431.2:c.846T>C, XM_011514431.1:c.846T>A, XM_011514431.1:c.846T>C, XM_011514432.4:c.846T>A, XM_011514432.4:c.846T>C, XM_011514432.3:c.846T>A, XM_011514432.3:c.846T>C, XM_011514432.2:c.846T>A, XM_011514432.2:c.846T>C, XM_011514432.1:c.846T>A, XM_011514432.1:c.846T>C, XM_011514434.4:c.783T>A, XM_011514434.4:c.783T>C, XM_011514434.3:c.783T>A, XM_011514434.3:c.783T>C, XM_011514434.2:c.783T>A, XM_011514434.2:c.783T>C, XM_011514434.1:c.783T>A, XM_011514434.1:c.783T>C, XM_011514435.4:c.783T>A, XM_011514435.4:c.783T>C, XM_011514435.3:c.783T>A, XM_011514435.3:c.783T>C, XM_011514435.2:c.783T>A, XM_011514435.2:c.783T>C, XM_011514435.1:c.783T>A, XM_011514435.1:c.783T>C, XM_006715036.3:c.846T>A, XM_006715036.3:c.846T>C, XM_006715036.2:c.846T>A, XM_006715036.2:c.846T>C, XM_006715036.1:c.846T>A, XM_006715036.1:c.846T>C, NM_015245.3:c.783T>A, NM_015245.3:c.783T>C, NM_015245.2:c.783T>A, NM_015245.2:c.783T>C, XM_011514433.2:c.846T>A, XM_011514433.2:c.846T>C, XM_011514433.1:c.846T>A, XM_011514433.1:c.846T>C, XM_024446383.2:c.846T>A, XM_024446383.2:c.846T>C, XM_024446383.1:c.846T>A, XM_024446383.1:c.846T>C, XM_047418491.1:c.783T>A, XM_047418491.1:c.783T>C, XP_005249021.1:p.Asp282Glu, XP_011512733.1:p.Asp282Glu, XP_011512734.1:p.Asp282Glu, XP_011512736.1:p.Asp261Glu, XP_011512737.1:p.Asp261Glu, XP_006715099.1:p.Asp282Glu, NP_056060.2:p.Asp261Glu, XP_011512735.1:p.Asp282Glu, XP_024302151.1:p.Asp282Glu, XP_047274447.1:p.Asp261Glu

                                    18.

                                    rs1474412072 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      6:35017667 (GRCh38)
                                      6:34985444 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:35017666:G:A
                                      Gene:
                                      ANKS1A (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_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_000006.12:g.35017667G>A, NC_000006.11:g.34985444G>A, XM_005248964.4:c.1681G>A, XM_005248964.3:c.1681G>A, XM_005248964.2:c.1681G>A, XM_005248964.1:c.1681G>A, XM_011514431.4:c.1681G>A, XM_011514431.3:c.1681G>A, XM_011514431.2:c.1681G>A, XM_011514431.1:c.1681G>A, XM_011514432.4:c.1681G>A, XM_011514432.3:c.1681G>A, XM_011514432.2:c.1681G>A, XM_011514432.1:c.1681G>A, XM_011514434.4:c.1618G>A, XM_011514434.3:c.1618G>A, XM_011514434.2:c.1618G>A, XM_011514434.1:c.1618G>A, XM_011514435.4:c.1618G>A, XM_011514435.3:c.1618G>A, XM_011514435.2:c.1618G>A, XM_011514435.1:c.1618G>A, XM_006715036.3:c.1681G>A, XM_006715036.2:c.1681G>A, XM_006715036.1:c.1681G>A, NM_015245.3:c.1618G>A, NM_015245.2:c.1618G>A, XM_011514433.2:c.1681G>A, XM_011514433.1:c.1681G>A, XM_024446383.2:c.1681G>A, XM_024446383.1:c.1681G>A, XM_017010593.2:c.-6G>A, XM_017010593.1:c.-6G>A, XM_047418491.1:c.1618G>A, XM_047418492.1:c.-6G>A, XP_005249021.1:p.Ala561Thr, XP_011512733.1:p.Ala561Thr, XP_011512734.1:p.Ala561Thr, XP_011512736.1:p.Ala540Thr, XP_011512737.1:p.Ala540Thr, XP_006715099.1:p.Ala561Thr, NP_056060.2:p.Ala540Thr, XP_011512735.1:p.Ala561Thr, XP_024302151.1:p.Ala561Thr, XP_047274447.1:p.Ala540Thr

                                      19.

                                      rs1472631546 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        6:35060237 (GRCh38)
                                        6:35028014 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:35060236:A:G
                                        Gene:
                                        ANKS1A (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000006.12:g.35060237A>G, NC_000006.11:g.35028014A>G, XM_005248964.4:c.2231A>G, XM_005248964.3:c.2231A>G, XM_005248964.2:c.2231A>G, XM_005248964.1:c.2231A>G, XM_011514431.4:c.2231A>G, XM_011514431.3:c.2231A>G, XM_011514431.2:c.2231A>G, XM_011514431.1:c.2231A>G, XM_011514432.4:c.2231A>G, XM_011514432.3:c.2231A>G, XM_011514432.2:c.2231A>G, XM_011514432.1:c.2231A>G, XM_011514434.4:c.2168A>G, XM_011514434.3:c.2168A>G, XM_011514434.2:c.2168A>G, XM_011514434.1:c.2168A>G, XM_011514435.4:c.2168A>G, XM_011514435.3:c.2168A>G, XM_011514435.2:c.2168A>G, XM_011514435.1:c.2168A>G, XM_006715036.3:c.2231A>G, XM_006715036.2:c.2231A>G, XM_006715036.1:c.2231A>G, NM_015245.3:c.2168A>G, NM_015245.2:c.2168A>G, XM_011514433.2:c.2231A>G, XM_011514433.1:c.2231A>G, XM_024446383.2:c.2231A>G, XM_024446383.1:c.2231A>G, XM_017010593.2:c.545A>G, XM_017010593.1:c.545A>G, XM_047418491.1:c.2168A>G, XM_047418492.1:c.545A>G, XP_005249021.1:p.Asp744Gly, XP_011512733.1:p.Asp744Gly, XP_011512734.1:p.Asp744Gly, XP_011512736.1:p.Asp723Gly, XP_011512737.1:p.Asp723Gly, XP_006715099.1:p.Asp744Gly, NP_056060.2:p.Asp723Gly, XP_011512735.1:p.Asp744Gly, XP_024302151.1:p.Asp744Gly, XP_016866082.1:p.Asp182Gly, XP_047274447.1:p.Asp723Gly, XP_047274448.1:p.Asp182Gly

                                        20.

                                        rs1472407211 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          6:35079821 (GRCh38)
                                          6:35047598 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:35079820:G:A
                                          Gene:
                                          ANKS1A (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          HGVS:
                                          NC_000006.12:g.35079821G>A, NC_000006.11:g.35047598G>A, XM_005248964.4:c.2500G>A, XM_005248964.3:c.2500G>A, XM_005248964.2:c.2500G>A, XM_005248964.1:c.2500G>A, XM_011514431.4:c.2500G>A, XM_011514431.3:c.2500G>A, XM_011514431.2:c.2500G>A, XM_011514431.1:c.2500G>A, XM_011514432.4:c.2500G>A, XM_011514432.3:c.2500G>A, XM_011514432.2:c.2500G>A, XM_011514432.1:c.2500G>A, XM_011514434.4:c.2437G>A, XM_011514434.3:c.2437G>A, XM_011514434.2:c.2437G>A, XM_011514434.1:c.2437G>A, XM_011514435.4:c.2437G>A, XM_011514435.3:c.2437G>A, XM_011514435.2:c.2437G>A, XM_011514435.1:c.2437G>A, XM_006715036.3:c.2500G>A, XM_006715036.2:c.2500G>A, XM_006715036.1:c.2500G>A, NM_015245.3:c.2437G>A, NM_015245.2:c.2437G>A, XM_011514433.2:c.2500G>A, XM_011514433.1:c.2500G>A, XM_024446383.2:c.2500G>A, XM_024446383.1:c.2500G>A, XM_017010593.2:c.814G>A, XM_017010593.1:c.814G>A, XM_047418491.1:c.2437G>A, XM_047418492.1:c.814G>A, XP_005249021.1:p.Val834Ile, XP_011512733.1:p.Val834Ile, XP_011512734.1:p.Val834Ile, XP_011512736.1:p.Val813Ile, XP_011512737.1:p.Val813Ile, XP_006715099.1:p.Val834Ile, NP_056060.2:p.Val813Ile, XP_011512735.1:p.Val834Ile, XP_024302151.1:p.Val834Ile, XP_016866082.1:p.Val272Ile, XP_047274447.1:p.Val813Ile, XP_047274448.1:p.Val272Ile

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