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Items: 1 to 20 of 424

1.

rs1490070324 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CCTTAGCAATAAGGGAAGGCGACAAACAGTTTAGCT>- [Show Flanks]
    Chromosome:
    6:4068728 (GRCh38)
    6:4068962 (GRCh37)
    Canonical SPDI:
    NC_000006.12:4068726:TCCTTAGCAATAAGGGAAGGCGACAAACAGTTTAGCT:T
    Gene:
    FAM217A (Varview)
    Functional Consequence:
    coding_sequence_variant,inframe_indel
    Validated:
    by frequency
    MAF:
    -=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000006.12:g.4068728_4068763del, NC_000006.11:g.4068962_4068997del, XM_005248951.5:c.1434_1469del, XM_005248951.4:c.1434_1469del, XM_005248951.3:c.1434_1469del, XM_005248951.2:c.1434_1469del, XM_005248951.1:c.1434_1469del, XM_006715026.4:c.1272_1307del, XM_006715026.3:c.1272_1307del, XM_006715026.2:c.1272_1307del, XM_006715026.1:c.1272_1307del, XM_006715025.4:c.1272_1307del, XM_006715025.3:c.1272_1307del, XM_006715025.2:c.1272_1307del, XM_006715025.1:c.1272_1307del, XM_011514414.4:c.1272_1307del, XM_011514414.3:c.1272_1307del, XM_011514414.2:c.1272_1307del, XM_011514414.1:c.1272_1307del, XM_017010480.3:c.1521_1556del, XM_017010480.2:c.1521_1556del, XM_017010480.1:c.1521_1556del, XM_011514416.3:c.1422_1457del, XM_011514416.2:c.1422_1457del, XM_011514416.1:c.1422_1457del, NM_173563.3:c.1461_1496del, NM_173563.2:c.1461_1496del, XM_011514417.3:c.1317_1352del, XM_011514417.2:c.1317_1352del, XM_011514417.1:c.1317_1352del, XM_017010481.2:c.1434_1469del, XM_017010481.1:c.1434_1469del, XM_011514415.2:c.1431_1466del, XM_011514415.1:c.1431_1466del, XM_017010482.2:c.1272_1307del, XM_017010482.1:c.1272_1307del, XM_047418385.1:c.1272_1307del, XP_005249008.1:p.Lys478_Asp490delinsAsn, XP_006715089.1:p.Lys424_Asp436delinsAsn, XP_006715088.1:p.Lys424_Asp436delinsAsn, XP_011512716.1:p.Lys424_Asp436delinsAsn, XP_016865969.1:p.Lys507_Asp519delinsAsn, XP_011512718.1:p.Lys474_Asp486delinsAsn, NP_775834.2:p.Lys487_Asp499delinsAsn, XP_011512719.1:p.Lys439_Asp451delinsAsn, XP_016865970.1:p.Lys478_Asp490delinsAsn, XP_011512717.1:p.Lys477_Asp489delinsAsn, XP_016865971.1:p.Lys424_Asp436delinsAsn, XP_047274341.1:p.Lys424_Asp436delinsAsn

    2.

    rs1488713784 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      6:4069129 (GRCh38)
      6:4069363 (GRCh37)
      Canonical SPDI:
      NC_000006.12:4069128:T:C
      Gene:
      FAM217A (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      C=0.000004/1 (TOPMED)
      HGVS:
      NC_000006.12:g.4069129T>C, NC_000006.11:g.4069363T>C, XM_005248951.5:c.1067A>G, XM_005248951.4:c.1067A>G, XM_005248951.3:c.1067A>G, XM_005248951.2:c.1067A>G, XM_005248951.1:c.1067A>G, XM_006715026.4:c.905A>G, XM_006715026.3:c.905A>G, XM_006715026.2:c.905A>G, XM_006715026.1:c.905A>G, XM_006715025.4:c.905A>G, XM_006715025.3:c.905A>G, XM_006715025.2:c.905A>G, XM_006715025.1:c.905A>G, XM_011514414.4:c.905A>G, XM_011514414.3:c.905A>G, XM_011514414.2:c.905A>G, XM_011514414.1:c.905A>G, XM_017010480.3:c.1154A>G, XM_017010480.2:c.1154A>G, XM_017010480.1:c.1154A>G, XM_011514416.3:c.1055A>G, XM_011514416.2:c.1055A>G, XM_011514416.1:c.1055A>G, NM_173563.3:c.1094A>G, NM_173563.2:c.1094A>G, XM_011514417.3:c.950A>G, XM_011514417.2:c.950A>G, XM_011514417.1:c.950A>G, XM_017010481.2:c.1067A>G, XM_017010481.1:c.1067A>G, XM_011514415.2:c.1064A>G, XM_011514415.1:c.1064A>G, XM_017010482.2:c.905A>G, XM_017010482.1:c.905A>G, XM_047418385.1:c.905A>G, XP_005249008.1:p.Asn356Ser, XP_006715089.1:p.Asn302Ser, XP_006715088.1:p.Asn302Ser, XP_011512716.1:p.Asn302Ser, XP_016865969.1:p.Asn385Ser, XP_011512718.1:p.Asn352Ser, NP_775834.2:p.Asn365Ser, XP_011512719.1:p.Asn317Ser, XP_016865970.1:p.Asn356Ser, XP_011512717.1:p.Asn355Ser, XP_016865971.1:p.Asn302Ser, XP_047274341.1:p.Asn302Ser

      3.

      rs1488061376 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        6:4069798 (GRCh38)
        6:4070032 (GRCh37)
        Canonical SPDI:
        NC_000006.12:4069797:C:T
        Gene:
        FAM217A (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000012/3 (GnomAD_exomes)
        HGVS:
        NC_000006.12:g.4069798C>T, NC_000006.11:g.4070032C>T, XM_005248951.5:c.398G>A, XM_005248951.4:c.398G>A, XM_005248951.3:c.398G>A, XM_005248951.2:c.398G>A, XM_005248951.1:c.398G>A, XM_006715026.4:c.236G>A, XM_006715026.3:c.236G>A, XM_006715026.2:c.236G>A, XM_006715026.1:c.236G>A, XM_006715025.4:c.236G>A, XM_006715025.3:c.236G>A, XM_006715025.2:c.236G>A, XM_006715025.1:c.236G>A, XM_011514414.4:c.236G>A, XM_011514414.3:c.236G>A, XM_011514414.2:c.236G>A, XM_011514414.1:c.236G>A, XM_017010480.3:c.485G>A, XM_017010480.2:c.485G>A, XM_017010480.1:c.485G>A, XM_011514416.3:c.386G>A, XM_011514416.2:c.386G>A, XM_011514416.1:c.386G>A, NM_173563.3:c.425G>A, NM_173563.2:c.425G>A, XM_011514417.3:c.281G>A, XM_011514417.2:c.281G>A, XM_011514417.1:c.281G>A, XM_017010481.2:c.398G>A, XM_017010481.1:c.398G>A, XM_011514415.2:c.395G>A, XM_011514415.1:c.395G>A, XM_017010482.2:c.236G>A, XM_017010482.1:c.236G>A, XM_047418385.1:c.236G>A, XP_005249008.1:p.Gly133Glu, XP_006715089.1:p.Gly79Glu, XP_006715088.1:p.Gly79Glu, XP_011512716.1:p.Gly79Glu, XP_016865969.1:p.Gly162Glu, XP_011512718.1:p.Gly129Glu, NP_775834.2:p.Gly142Glu, XP_011512719.1:p.Gly94Glu, XP_016865970.1:p.Gly133Glu, XP_011512717.1:p.Gly132Glu, XP_016865971.1:p.Gly79Glu, XP_047274341.1:p.Gly79Glu

        4.

        rs1487076872 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          6:4069413 (GRCh38)
          6:4069647 (GRCh37)
          Canonical SPDI:
          NC_000006.12:4069412:G:A
          Gene:
          FAM217A (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0.000047/1 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000006.12:g.4069413G>A, NC_000006.11:g.4069647G>A, XM_005248951.5:c.783C>T, XM_005248951.4:c.783C>T, XM_005248951.3:c.783C>T, XM_005248951.2:c.783C>T, XM_005248951.1:c.783C>T, XM_006715026.4:c.621C>T, XM_006715026.3:c.621C>T, XM_006715026.2:c.621C>T, XM_006715026.1:c.621C>T, XM_006715025.4:c.621C>T, XM_006715025.3:c.621C>T, XM_006715025.2:c.621C>T, XM_006715025.1:c.621C>T, XM_011514414.4:c.621C>T, XM_011514414.3:c.621C>T, XM_011514414.2:c.621C>T, XM_011514414.1:c.621C>T, XM_017010480.3:c.870C>T, XM_017010480.2:c.870C>T, XM_017010480.1:c.870C>T, XM_011514416.3:c.771C>T, XM_011514416.2:c.771C>T, XM_011514416.1:c.771C>T, NM_173563.3:c.810C>T, NM_173563.2:c.810C>T, XM_011514417.3:c.666C>T, XM_011514417.2:c.666C>T, XM_011514417.1:c.666C>T, XM_017010481.2:c.783C>T, XM_017010481.1:c.783C>T, XM_011514415.2:c.780C>T, XM_011514415.1:c.780C>T, XM_017010482.2:c.621C>T, XM_017010482.1:c.621C>T, XM_047418385.1:c.621C>T

          5.

          rs1486426493 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            6:4073453 (GRCh38)
            6:4073687 (GRCh37)
            Canonical SPDI:
            NC_000006.12:4073452:G:A
            Gene:
            FAM217A (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000006.12:g.4073453G>A, NC_000006.11:g.4073687G>A, XM_005248951.5:c.187C>T, XM_005248951.4:c.187C>T, XM_005248951.3:c.187C>T, XM_005248951.2:c.187C>T, XM_005248951.1:c.187C>T, XM_006715026.4:c.25C>T, XM_006715026.3:c.25C>T, XM_006715026.2:c.25C>T, XM_006715026.1:c.25C>T, XM_006715025.4:c.25C>T, XM_006715025.3:c.25C>T, XM_006715025.2:c.25C>T, XM_006715025.1:c.25C>T, XM_011514414.4:c.25C>T, XM_011514414.3:c.25C>T, XM_011514414.2:c.25C>T, XM_011514414.1:c.25C>T, XM_017010480.3:c.274C>T, XM_017010480.2:c.274C>T, XM_017010480.1:c.274C>T, XM_011514416.3:c.175C>T, XM_011514416.2:c.175C>T, XM_011514416.1:c.175C>T, NM_173563.3:c.214C>T, NM_173563.2:c.214C>T, XM_011514417.3:c.70C>T, XM_011514417.2:c.70C>T, XM_011514417.1:c.70C>T, XM_017010481.2:c.187C>T, XM_017010481.1:c.187C>T, XM_011514415.2:c.184C>T, XM_011514415.1:c.184C>T, XM_017010482.2:c.25C>T, XM_017010482.1:c.25C>T, XM_047418385.1:c.25C>T, XP_005249008.1:p.His63Tyr, XP_006715089.1:p.His9Tyr, XP_006715088.1:p.His9Tyr, XP_011512716.1:p.His9Tyr, XP_016865969.1:p.His92Tyr, XP_011512718.1:p.His59Tyr, NP_775834.2:p.His72Tyr, XP_011512719.1:p.His24Tyr, XP_016865970.1:p.His63Tyr, XP_011512717.1:p.His62Tyr, XP_016865971.1:p.His9Tyr, XP_047274341.1:p.His9Tyr

            6.

            rs1482027694 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              6:4069878 (GRCh38)
              6:4070112 (GRCh37)
              Canonical SPDI:
              NC_000006.12:4069877:G:A
              Gene:
              FAM217A (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_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.4069878G>A, NC_000006.11:g.4070112G>A, XM_005248951.5:c.318C>T, XM_005248951.4:c.318C>T, XM_005248951.3:c.318C>T, XM_005248951.2:c.318C>T, XM_005248951.1:c.318C>T, XM_006715026.4:c.156C>T, XM_006715026.3:c.156C>T, XM_006715026.2:c.156C>T, XM_006715026.1:c.156C>T, XM_006715025.4:c.156C>T, XM_006715025.3:c.156C>T, XM_006715025.2:c.156C>T, XM_006715025.1:c.156C>T, XM_011514414.4:c.156C>T, XM_011514414.3:c.156C>T, XM_011514414.2:c.156C>T, XM_011514414.1:c.156C>T, XM_017010480.3:c.405C>T, XM_017010480.2:c.405C>T, XM_017010480.1:c.405C>T, XM_011514416.3:c.306C>T, XM_011514416.2:c.306C>T, XM_011514416.1:c.306C>T, NM_173563.3:c.345C>T, NM_173563.2:c.345C>T, XM_011514417.3:c.201C>T, XM_011514417.2:c.201C>T, XM_011514417.1:c.201C>T, XM_017010481.2:c.318C>T, XM_017010481.1:c.318C>T, XM_011514415.2:c.315C>T, XM_011514415.1:c.315C>T, XM_017010482.2:c.156C>T, XM_017010482.1:c.156C>T, XM_047418385.1:c.156C>T

              7.

              rs1478292531 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                6:4069023 (GRCh38)
                6:4069257 (GRCh37)
                Canonical SPDI:
                NC_000006.12:4069022:A:G
                Gene:
                FAM217A (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                G=0.000008/2 (TOPMED)
                G=0.000014/2 (GnomAD)
                HGVS:
                NC_000006.12:g.4069023A>G, NC_000006.11:g.4069257A>G, XM_005248951.5:c.1173T>C, XM_005248951.4:c.1173T>C, XM_005248951.3:c.1173T>C, XM_005248951.2:c.1173T>C, XM_005248951.1:c.1173T>C, XM_006715026.4:c.1011T>C, XM_006715026.3:c.1011T>C, XM_006715026.2:c.1011T>C, XM_006715026.1:c.1011T>C, XM_006715025.4:c.1011T>C, XM_006715025.3:c.1011T>C, XM_006715025.2:c.1011T>C, XM_006715025.1:c.1011T>C, XM_011514414.4:c.1011T>C, XM_011514414.3:c.1011T>C, XM_011514414.2:c.1011T>C, XM_011514414.1:c.1011T>C, XM_017010480.3:c.1260T>C, XM_017010480.2:c.1260T>C, XM_017010480.1:c.1260T>C, XM_011514416.3:c.1161T>C, XM_011514416.2:c.1161T>C, XM_011514416.1:c.1161T>C, NM_173563.3:c.1200T>C, NM_173563.2:c.1200T>C, XM_011514417.3:c.1056T>C, XM_011514417.2:c.1056T>C, XM_011514417.1:c.1056T>C, XM_017010481.2:c.1173T>C, XM_017010481.1:c.1173T>C, XM_011514415.2:c.1170T>C, XM_011514415.1:c.1170T>C, XM_017010482.2:c.1011T>C, XM_017010482.1:c.1011T>C, XM_047418385.1:c.1011T>C

                8.

                rs1478291991 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  6:4069513 (GRCh38)
                  6:4069747 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:4069512:G:T
                  Gene:
                  FAM217A (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000006.12:g.4069513G>T, NC_000006.11:g.4069747G>T, XM_005248951.5:c.683C>A, XM_005248951.4:c.683C>A, XM_005248951.3:c.683C>A, XM_005248951.2:c.683C>A, XM_005248951.1:c.683C>A, XM_006715026.4:c.521C>A, XM_006715026.3:c.521C>A, XM_006715026.2:c.521C>A, XM_006715026.1:c.521C>A, XM_006715025.4:c.521C>A, XM_006715025.3:c.521C>A, XM_006715025.2:c.521C>A, XM_006715025.1:c.521C>A, XM_011514414.4:c.521C>A, XM_011514414.3:c.521C>A, XM_011514414.2:c.521C>A, XM_011514414.1:c.521C>A, XM_017010480.3:c.770C>A, XM_017010480.2:c.770C>A, XM_017010480.1:c.770C>A, XM_011514416.3:c.671C>A, XM_011514416.2:c.671C>A, XM_011514416.1:c.671C>A, NM_173563.3:c.710C>A, NM_173563.2:c.710C>A, XM_011514417.3:c.566C>A, XM_011514417.2:c.566C>A, XM_011514417.1:c.566C>A, XM_017010481.2:c.683C>A, XM_017010481.1:c.683C>A, XM_011514415.2:c.680C>A, XM_011514415.1:c.680C>A, XM_017010482.2:c.521C>A, XM_017010482.1:c.521C>A, XM_047418385.1:c.521C>A, XP_005249008.1:p.Pro228His, XP_006715089.1:p.Pro174His, XP_006715088.1:p.Pro174His, XP_011512716.1:p.Pro174His, XP_016865969.1:p.Pro257His, XP_011512718.1:p.Pro224His, NP_775834.2:p.Pro237His, XP_011512719.1:p.Pro189His, XP_016865970.1:p.Pro228His, XP_011512717.1:p.Pro227His, XP_016865971.1:p.Pro174His, XP_047274341.1:p.Pro174His

                  9.

                  rs1478076104 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    6:4068730 (GRCh38)
                    6:4068964 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:4068729:T:G
                    Gene:
                    FAM217A (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000006.12:g.4068730T>G, NC_000006.11:g.4068964T>G, XM_005248951.5:c.1466A>C, XM_005248951.4:c.1466A>C, XM_005248951.3:c.1466A>C, XM_005248951.2:c.1466A>C, XM_005248951.1:c.1466A>C, XM_006715026.4:c.1304A>C, XM_006715026.3:c.1304A>C, XM_006715026.2:c.1304A>C, XM_006715026.1:c.1304A>C, XM_006715025.4:c.1304A>C, XM_006715025.3:c.1304A>C, XM_006715025.2:c.1304A>C, XM_006715025.1:c.1304A>C, XM_011514414.4:c.1304A>C, XM_011514414.3:c.1304A>C, XM_011514414.2:c.1304A>C, XM_011514414.1:c.1304A>C, XM_017010480.3:c.1553A>C, XM_017010480.2:c.1553A>C, XM_017010480.1:c.1553A>C, XM_011514416.3:c.1454A>C, XM_011514416.2:c.1454A>C, XM_011514416.1:c.1454A>C, NM_173563.3:c.1493A>C, NM_173563.2:c.1493A>C, XM_011514417.3:c.1349A>C, XM_011514417.2:c.1349A>C, XM_011514417.1:c.1349A>C, XM_017010481.2:c.1466A>C, XM_017010481.1:c.1466A>C, XM_011514415.2:c.1463A>C, XM_011514415.1:c.1463A>C, XM_017010482.2:c.1304A>C, XM_017010482.1:c.1304A>C, XM_047418385.1:c.1304A>C, XP_005249008.1:p.Lys489Thr, XP_006715089.1:p.Lys435Thr, XP_006715088.1:p.Lys435Thr, XP_011512716.1:p.Lys435Thr, XP_016865969.1:p.Lys518Thr, XP_011512718.1:p.Lys485Thr, NP_775834.2:p.Lys498Thr, XP_011512719.1:p.Lys450Thr, XP_016865970.1:p.Lys489Thr, XP_011512717.1:p.Lys488Thr, XP_016865971.1:p.Lys435Thr, XP_047274341.1:p.Lys435Thr

                    10.

                    rs1472371948 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      6:4068839 (GRCh38)
                      6:4069073 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:4068838:G:C
                      Gene:
                      FAM217A (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000006.12:g.4068839G>C, NC_000006.11:g.4069073G>C, XM_005248951.5:c.1357C>G, XM_005248951.4:c.1357C>G, XM_005248951.3:c.1357C>G, XM_005248951.2:c.1357C>G, XM_005248951.1:c.1357C>G, XM_006715026.4:c.1195C>G, XM_006715026.3:c.1195C>G, XM_006715026.2:c.1195C>G, XM_006715026.1:c.1195C>G, XM_006715025.4:c.1195C>G, XM_006715025.3:c.1195C>G, XM_006715025.2:c.1195C>G, XM_006715025.1:c.1195C>G, XM_011514414.4:c.1195C>G, XM_011514414.3:c.1195C>G, XM_011514414.2:c.1195C>G, XM_011514414.1:c.1195C>G, XM_017010480.3:c.1444C>G, XM_017010480.2:c.1444C>G, XM_017010480.1:c.1444C>G, XM_011514416.3:c.1345C>G, XM_011514416.2:c.1345C>G, XM_011514416.1:c.1345C>G, NM_173563.3:c.1384C>G, NM_173563.2:c.1384C>G, XM_011514417.3:c.1240C>G, XM_011514417.2:c.1240C>G, XM_011514417.1:c.1240C>G, XM_017010481.2:c.1357C>G, XM_017010481.1:c.1357C>G, XM_011514415.2:c.1354C>G, XM_011514415.1:c.1354C>G, XM_017010482.2:c.1195C>G, XM_017010482.1:c.1195C>G, XM_047418385.1:c.1195C>G, XP_005249008.1:p.Pro453Ala, XP_006715089.1:p.Pro399Ala, XP_006715088.1:p.Pro399Ala, XP_011512716.1:p.Pro399Ala, XP_016865969.1:p.Pro482Ala, XP_011512718.1:p.Pro449Ala, NP_775834.2:p.Pro462Ala, XP_011512719.1:p.Pro414Ala, XP_016865970.1:p.Pro453Ala, XP_011512717.1:p.Pro452Ala, XP_016865971.1:p.Pro399Ala, XP_047274341.1:p.Pro399Ala

                      11.

                      rs1459068091 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        T>- [Show Flanks]
                        Chromosome:
                        6:4069588 (GRCh38)
                        6:4069822 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:4069587:TTT:TT
                        Gene:
                        FAM217A (Varview)
                        Functional Consequence:
                        frameshift_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TT=0.000071/1 (ALFA)
                        -=0.000004/1 (GnomAD_exomes)
                        -=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000006.12:g.4069590del, NC_000006.11:g.4069824del, XM_005248951.5:c.608del, XM_005248951.4:c.608del, XM_005248951.3:c.608del, XM_005248951.2:c.608del, XM_005248951.1:c.608del, XM_006715026.4:c.446del, XM_006715026.3:c.446del, XM_006715026.2:c.446del, XM_006715026.1:c.446del, XM_006715025.4:c.446del, XM_006715025.3:c.446del, XM_006715025.2:c.446del, XM_006715025.1:c.446del, XM_011514414.4:c.446del, XM_011514414.3:c.446del, XM_011514414.2:c.446del, XM_011514414.1:c.446del, XM_017010480.3:c.695del, XM_017010480.2:c.695del, XM_017010480.1:c.695del, XM_011514416.3:c.596del, XM_011514416.2:c.596del, XM_011514416.1:c.596del, NM_173563.3:c.635del, NM_173563.2:c.635del, XM_011514417.3:c.491del, XM_011514417.2:c.491del, XM_011514417.1:c.491del, XM_017010481.2:c.608del, XM_017010481.1:c.608del, XM_011514415.2:c.605del, XM_011514415.1:c.605del, XM_017010482.2:c.446del, XM_017010482.1:c.446del, XM_047418385.1:c.446del, XP_005249008.1:p.Asn203fs, XP_006715089.1:p.Asn149fs, XP_006715088.1:p.Asn149fs, XP_011512716.1:p.Asn149fs, XP_016865969.1:p.Asn232fs, XP_011512718.1:p.Asn199fs, NP_775834.2:p.Asn212fs, XP_011512719.1:p.Asn164fs, XP_016865970.1:p.Asn203fs, XP_011512717.1:p.Asn202fs, XP_016865971.1:p.Asn149fs, XP_047274341.1:p.Asn149fs

                        12.

                        rs1458543499 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          6:4069446 (GRCh38)
                          6:4069680 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:4069445:T:C
                          Gene:
                          FAM217A (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000006.12:g.4069446T>C, NC_000006.11:g.4069680T>C, XM_005248951.5:c.750A>G, XM_005248951.4:c.750A>G, XM_005248951.3:c.750A>G, XM_005248951.2:c.750A>G, XM_005248951.1:c.750A>G, XM_006715026.4:c.588A>G, XM_006715026.3:c.588A>G, XM_006715026.2:c.588A>G, XM_006715026.1:c.588A>G, XM_006715025.4:c.588A>G, XM_006715025.3:c.588A>G, XM_006715025.2:c.588A>G, XM_006715025.1:c.588A>G, XM_011514414.4:c.588A>G, XM_011514414.3:c.588A>G, XM_011514414.2:c.588A>G, XM_011514414.1:c.588A>G, XM_017010480.3:c.837A>G, XM_017010480.2:c.837A>G, XM_017010480.1:c.837A>G, XM_011514416.3:c.738A>G, XM_011514416.2:c.738A>G, XM_011514416.1:c.738A>G, NM_173563.3:c.777A>G, NM_173563.2:c.777A>G, XM_011514417.3:c.633A>G, XM_011514417.2:c.633A>G, XM_011514417.1:c.633A>G, XM_017010481.2:c.750A>G, XM_017010481.1:c.750A>G, XM_011514415.2:c.747A>G, XM_011514415.1:c.747A>G, XM_017010482.2:c.588A>G, XM_017010482.1:c.588A>G, XM_047418385.1:c.588A>G

                          13.

                          rs1457932254 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->A [Show Flanks]
                            Chromosome:
                            6:4069469 (GRCh38)
                            6:4069704 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:4069469:AAAA:AAAAA
                            Gene:
                            FAM217A (Varview)
                            Functional Consequence:
                            frameshift_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            AAAAA=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000006.12:g.4069473dup, NC_000006.11:g.4069707dup, XM_005248951.5:c.726dup, XM_005248951.4:c.726dup, XM_005248951.3:c.726dup, XM_005248951.2:c.726dup, XM_005248951.1:c.726dup, XM_006715026.4:c.564dup, XM_006715026.3:c.564dup, XM_006715026.2:c.564dup, XM_006715026.1:c.564dup, XM_006715025.4:c.564dup, XM_006715025.3:c.564dup, XM_006715025.2:c.564dup, XM_006715025.1:c.564dup, XM_011514414.4:c.564dup, XM_011514414.3:c.564dup, XM_011514414.2:c.564dup, XM_011514414.1:c.564dup, XM_017010480.3:c.813dup, XM_017010480.2:c.813dup, XM_017010480.1:c.813dup, XM_011514416.3:c.714dup, XM_011514416.2:c.714dup, XM_011514416.1:c.714dup, NM_173563.3:c.753dup, NM_173563.2:c.753dup, XM_011514417.3:c.609dup, XM_011514417.2:c.609dup, XM_011514417.1:c.609dup, XM_017010481.2:c.726dup, XM_017010481.1:c.726dup, XM_011514415.2:c.723dup, XM_011514415.1:c.723dup, XM_017010482.2:c.564dup, XM_017010482.1:c.564dup, XM_047418385.1:c.564dup, XP_005249008.1:p.Leu243fs, XP_006715089.1:p.Leu189fs, XP_006715088.1:p.Leu189fs, XP_011512716.1:p.Leu189fs, XP_016865969.1:p.Leu272fs, XP_011512718.1:p.Leu239fs, NP_775834.2:p.Leu252fs, XP_011512719.1:p.Leu204fs, XP_016865970.1:p.Leu243fs, XP_011512717.1:p.Leu242fs, XP_016865971.1:p.Leu189fs, XP_047274341.1:p.Leu189fs

                            14.

                            rs1448473800 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              6:4069370 (GRCh38)
                              6:4069604 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:4069369:G:A
                              Gene:
                              FAM217A (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000006.12:g.4069370G>A, NC_000006.11:g.4069604G>A, XM_005248951.5:c.826C>T, XM_005248951.4:c.826C>T, XM_005248951.3:c.826C>T, XM_005248951.2:c.826C>T, XM_005248951.1:c.826C>T, XM_006715026.4:c.664C>T, XM_006715026.3:c.664C>T, XM_006715026.2:c.664C>T, XM_006715026.1:c.664C>T, XM_006715025.4:c.664C>T, XM_006715025.3:c.664C>T, XM_006715025.2:c.664C>T, XM_006715025.1:c.664C>T, XM_011514414.4:c.664C>T, XM_011514414.3:c.664C>T, XM_011514414.2:c.664C>T, XM_011514414.1:c.664C>T, XM_017010480.3:c.913C>T, XM_017010480.2:c.913C>T, XM_017010480.1:c.913C>T, XM_011514416.3:c.814C>T, XM_011514416.2:c.814C>T, XM_011514416.1:c.814C>T, NM_173563.3:c.853C>T, NM_173563.2:c.853C>T, XM_011514417.3:c.709C>T, XM_011514417.2:c.709C>T, XM_011514417.1:c.709C>T, XM_017010481.2:c.826C>T, XM_017010481.1:c.826C>T, XM_011514415.2:c.823C>T, XM_011514415.1:c.823C>T, XM_017010482.2:c.664C>T, XM_017010482.1:c.664C>T, XM_047418385.1:c.664C>T, XP_005249008.1:p.His276Tyr, XP_006715089.1:p.His222Tyr, XP_006715088.1:p.His222Tyr, XP_011512716.1:p.His222Tyr, XP_016865969.1:p.His305Tyr, XP_011512718.1:p.His272Tyr, NP_775834.2:p.His285Tyr, XP_011512719.1:p.His237Tyr, XP_016865970.1:p.His276Tyr, XP_011512717.1:p.His275Tyr, XP_016865971.1:p.His222Tyr, XP_047274341.1:p.His222Tyr

                              15.

                              rs1444505137 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                6:4073277 (GRCh38)
                                6:4073511 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:4073276:C:G
                                Gene:
                                FAM217A (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0.000047/1 (ALFA)
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000006.12:g.4073277C>G, NC_000006.11:g.4073511C>G, XM_005248951.5:c.273G>C, XM_005248951.4:c.273G>C, XM_005248951.3:c.273G>C, XM_005248951.2:c.273G>C, XM_005248951.1:c.273G>C, XM_006715026.4:c.111G>C, XM_006715026.3:c.111G>C, XM_006715026.2:c.111G>C, XM_006715026.1:c.111G>C, XM_006715025.4:c.111G>C, XM_006715025.3:c.111G>C, XM_006715025.2:c.111G>C, XM_006715025.1:c.111G>C, XM_011514414.4:c.111G>C, XM_011514414.3:c.111G>C, XM_011514414.2:c.111G>C, XM_011514414.1:c.111G>C, XM_017010480.3:c.360G>C, XM_017010480.2:c.360G>C, XM_017010480.1:c.360G>C, XM_011514416.3:c.261G>C, XM_011514416.2:c.261G>C, XM_011514416.1:c.261G>C, NM_173563.3:c.300G>C, NM_173563.2:c.300G>C, XM_011514417.3:c.156G>C, XM_011514417.2:c.156G>C, XM_011514417.1:c.156G>C, XM_017010481.2:c.273G>C, XM_017010481.1:c.273G>C, XM_011514415.2:c.270G>C, XM_011514415.1:c.270G>C, XM_017010482.2:c.111G>C, XM_017010482.1:c.111G>C, XM_047418385.1:c.111G>C, XP_005249008.1:p.Lys91Asn, XP_006715089.1:p.Lys37Asn, XP_006715088.1:p.Lys37Asn, XP_011512716.1:p.Lys37Asn, XP_016865969.1:p.Lys120Asn, XP_011512718.1:p.Lys87Asn, NP_775834.2:p.Lys100Asn, XP_011512719.1:p.Lys52Asn, XP_016865970.1:p.Lys91Asn, XP_011512717.1:p.Lys90Asn, XP_016865971.1:p.Lys37Asn, XP_047274341.1:p.Lys37Asn

                                16.

                                rs1444384621 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  6:4069223 (GRCh38)
                                  6:4069457 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:4069222:T:C
                                  Gene:
                                  FAM217A (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000006.12:g.4069223T>C, NC_000006.11:g.4069457T>C, XM_005248951.5:c.973A>G, XM_005248951.4:c.973A>G, XM_005248951.3:c.973A>G, XM_005248951.2:c.973A>G, XM_005248951.1:c.973A>G, XM_006715026.4:c.811A>G, XM_006715026.3:c.811A>G, XM_006715026.2:c.811A>G, XM_006715026.1:c.811A>G, XM_006715025.4:c.811A>G, XM_006715025.3:c.811A>G, XM_006715025.2:c.811A>G, XM_006715025.1:c.811A>G, XM_011514414.4:c.811A>G, XM_011514414.3:c.811A>G, XM_011514414.2:c.811A>G, XM_011514414.1:c.811A>G, XM_017010480.3:c.1060A>G, XM_017010480.2:c.1060A>G, XM_017010480.1:c.1060A>G, XM_011514416.3:c.961A>G, XM_011514416.2:c.961A>G, XM_011514416.1:c.961A>G, NM_173563.3:c.1000A>G, NM_173563.2:c.1000A>G, XM_011514417.3:c.856A>G, XM_011514417.2:c.856A>G, XM_011514417.1:c.856A>G, XM_017010481.2:c.973A>G, XM_017010481.1:c.973A>G, XM_011514415.2:c.970A>G, XM_011514415.1:c.970A>G, XM_017010482.2:c.811A>G, XM_017010482.1:c.811A>G, XM_047418385.1:c.811A>G, XP_005249008.1:p.Lys325Glu, XP_006715089.1:p.Lys271Glu, XP_006715088.1:p.Lys271Glu, XP_011512716.1:p.Lys271Glu, XP_016865969.1:p.Lys354Glu, XP_011512718.1:p.Lys321Glu, NP_775834.2:p.Lys334Glu, XP_011512719.1:p.Lys286Glu, XP_016865970.1:p.Lys325Glu, XP_011512717.1:p.Lys324Glu, XP_016865971.1:p.Lys271Glu, XP_047274341.1:p.Lys271Glu

                                  17.

                                  rs1441551302 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    6:4068783 (GRCh38)
                                    6:4069017 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:4068782:A:G
                                    Gene:
                                    FAM217A (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000006.12:g.4068783A>G, NC_000006.11:g.4069017A>G, XM_005248951.5:c.1413T>C, XM_005248951.4:c.1413T>C, XM_005248951.3:c.1413T>C, XM_005248951.2:c.1413T>C, XM_005248951.1:c.1413T>C, XM_006715026.4:c.1251T>C, XM_006715026.3:c.1251T>C, XM_006715026.2:c.1251T>C, XM_006715026.1:c.1251T>C, XM_006715025.4:c.1251T>C, XM_006715025.3:c.1251T>C, XM_006715025.2:c.1251T>C, XM_006715025.1:c.1251T>C, XM_011514414.4:c.1251T>C, XM_011514414.3:c.1251T>C, XM_011514414.2:c.1251T>C, XM_011514414.1:c.1251T>C, XM_017010480.3:c.1500T>C, XM_017010480.2:c.1500T>C, XM_017010480.1:c.1500T>C, XM_011514416.3:c.1401T>C, XM_011514416.2:c.1401T>C, XM_011514416.1:c.1401T>C, NM_173563.3:c.1440T>C, NM_173563.2:c.1440T>C, XM_011514417.3:c.1296T>C, XM_011514417.2:c.1296T>C, XM_011514417.1:c.1296T>C, XM_017010481.2:c.1413T>C, XM_017010481.1:c.1413T>C, XM_011514415.2:c.1410T>C, XM_011514415.1:c.1410T>C, XM_017010482.2:c.1251T>C, XM_017010482.1:c.1251T>C, XM_047418385.1:c.1251T>C

                                    18.

                                    rs1441303511 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      6:4069523 (GRCh38)
                                      6:4069757 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:4069522:C:T
                                      Gene:
                                      FAM217A (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000006.12:g.4069523C>T, NC_000006.11:g.4069757C>T, XM_005248951.5:c.673G>A, XM_005248951.4:c.673G>A, XM_005248951.3:c.673G>A, XM_005248951.2:c.673G>A, XM_005248951.1:c.673G>A, XM_006715026.4:c.511G>A, XM_006715026.3:c.511G>A, XM_006715026.2:c.511G>A, XM_006715026.1:c.511G>A, XM_006715025.4:c.511G>A, XM_006715025.3:c.511G>A, XM_006715025.2:c.511G>A, XM_006715025.1:c.511G>A, XM_011514414.4:c.511G>A, XM_011514414.3:c.511G>A, XM_011514414.2:c.511G>A, XM_011514414.1:c.511G>A, XM_017010480.3:c.760G>A, XM_017010480.2:c.760G>A, XM_017010480.1:c.760G>A, XM_011514416.3:c.661G>A, XM_011514416.2:c.661G>A, XM_011514416.1:c.661G>A, NM_173563.3:c.700G>A, NM_173563.2:c.700G>A, XM_011514417.3:c.556G>A, XM_011514417.2:c.556G>A, XM_011514417.1:c.556G>A, XM_017010481.2:c.673G>A, XM_017010481.1:c.673G>A, XM_011514415.2:c.670G>A, XM_011514415.1:c.670G>A, XM_017010482.2:c.511G>A, XM_017010482.1:c.511G>A, XM_047418385.1:c.511G>A, XP_005249008.1:p.Val225Ile, XP_006715089.1:p.Val171Ile, XP_006715088.1:p.Val171Ile, XP_011512716.1:p.Val171Ile, XP_016865969.1:p.Val254Ile, XP_011512718.1:p.Val221Ile, NP_775834.2:p.Val234Ile, XP_011512719.1:p.Val186Ile, XP_016865970.1:p.Val225Ile, XP_011512717.1:p.Val224Ile, XP_016865971.1:p.Val171Ile, XP_047274341.1:p.Val171Ile

                                      19.

                                      rs1434400846 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        6:4069472 (GRCh38)
                                        6:4069706 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:4069471:A:T
                                        Gene:
                                        FAM217A (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000006.12:g.4069472A>T, NC_000006.11:g.4069706A>T, XM_005248951.5:c.724T>A, XM_005248951.4:c.724T>A, XM_005248951.3:c.724T>A, XM_005248951.2:c.724T>A, XM_005248951.1:c.724T>A, XM_006715026.4:c.562T>A, XM_006715026.3:c.562T>A, XM_006715026.2:c.562T>A, XM_006715026.1:c.562T>A, XM_006715025.4:c.562T>A, XM_006715025.3:c.562T>A, XM_006715025.2:c.562T>A, XM_006715025.1:c.562T>A, XM_011514414.4:c.562T>A, XM_011514414.3:c.562T>A, XM_011514414.2:c.562T>A, XM_011514414.1:c.562T>A, XM_017010480.3:c.811T>A, XM_017010480.2:c.811T>A, XM_017010480.1:c.811T>A, XM_011514416.3:c.712T>A, XM_011514416.2:c.712T>A, XM_011514416.1:c.712T>A, NM_173563.3:c.751T>A, NM_173563.2:c.751T>A, XM_011514417.3:c.607T>A, XM_011514417.2:c.607T>A, XM_011514417.1:c.607T>A, XM_017010481.2:c.724T>A, XM_017010481.1:c.724T>A, XM_011514415.2:c.721T>A, XM_011514415.1:c.721T>A, XM_017010482.2:c.562T>A, XM_017010482.1:c.562T>A, XM_047418385.1:c.562T>A, XP_005249008.1:p.Phe242Ile, XP_006715089.1:p.Phe188Ile, XP_006715088.1:p.Phe188Ile, XP_011512716.1:p.Phe188Ile, XP_016865969.1:p.Phe271Ile, XP_011512718.1:p.Phe238Ile, NP_775834.2:p.Phe251Ile, XP_011512719.1:p.Phe203Ile, XP_016865970.1:p.Phe242Ile, XP_011512717.1:p.Phe241Ile, XP_016865971.1:p.Phe188Ile, XP_047274341.1:p.Phe188Ile

                                        20.

                                        rs1427965610 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          6:4069092 (GRCh38)
                                          6:4069326 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:4069091:A:G
                                          Gene:
                                          FAM217A (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000006.12:g.4069092A>G, NC_000006.11:g.4069326A>G, XM_005248951.5:c.1104T>C, XM_005248951.4:c.1104T>C, XM_005248951.3:c.1104T>C, XM_005248951.2:c.1104T>C, XM_005248951.1:c.1104T>C, XM_006715026.4:c.942T>C, XM_006715026.3:c.942T>C, XM_006715026.2:c.942T>C, XM_006715026.1:c.942T>C, XM_006715025.4:c.942T>C, XM_006715025.3:c.942T>C, XM_006715025.2:c.942T>C, XM_006715025.1:c.942T>C, XM_011514414.4:c.942T>C, XM_011514414.3:c.942T>C, XM_011514414.2:c.942T>C, XM_011514414.1:c.942T>C, XM_017010480.3:c.1191T>C, XM_017010480.2:c.1191T>C, XM_017010480.1:c.1191T>C, XM_011514416.3:c.1092T>C, XM_011514416.2:c.1092T>C, XM_011514416.1:c.1092T>C, NM_173563.3:c.1131T>C, NM_173563.2:c.1131T>C, XM_011514417.3:c.987T>C, XM_011514417.2:c.987T>C, XM_011514417.1:c.987T>C, XM_017010481.2:c.1104T>C, XM_017010481.1:c.1104T>C, XM_011514415.2:c.1101T>C, XM_011514415.1:c.1101T>C, XM_017010482.2:c.942T>C, XM_017010482.1:c.942T>C, XM_047418385.1:c.942T>C

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