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Items: 1 to 20 of 590

1.

rs1490549588 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    10:50813980 (GRCh38)
    10:52573740 (GRCh37)
    Canonical SPDI:
    NC_000010.11:50813979:A:T
    Gene:
    A1CF (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:

    2.

    rs1489967129 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      10:50836233 (GRCh38)
      10:52595993 (GRCh37)
      Canonical SPDI:
      NC_000010.11:50836232:T:C
      Gene:
      A1CF (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000010.11:g.50836233T>C, NC_000010.10:g.52595993T>C, NG_029916.1:g.54443A>G, NM_014576.4:c.445A>G, NM_014576.3:c.445A>G, NM_138933.3:c.469A>G, NM_138933.2:c.469A>G, NM_138932.3:c.445A>G, NM_138932.2:c.445A>G, NM_001198819.2:c.469A>G, NM_001198819.1:c.469A>G, NM_001198820.2:c.469A>G, NM_001198820.1:c.469A>G, NM_001198818.2:c.445A>G, NM_001198818.1:c.445A>G, NM_001370131.1:c.445A>G, NM_001370130.1:c.445A>G, XM_011539729.4:c.469A>G, XM_011539729.3:c.469A>G, XM_011539729.2:c.469A>G, XM_011539729.1:c.469A>G, XM_005269718.3:c.445A>G, XM_005269718.2:c.445A>G, XM_005269718.1:c.445A>G, XM_047425130.1:c.445A>G, XM_047425127.1:c.469A>G, XM_047425129.1:c.469A>G, XM_047425131.1:c.469A>G, NP_055391.2:p.Arg149Gly, NP_620311.1:p.Arg157Gly, NP_620310.1:p.Arg149Gly, NP_001185748.1:p.Arg157Gly, NP_001185749.1:p.Arg157Gly, NP_001185747.1:p.Arg149Gly, NP_001357060.1:p.Arg149Gly, NP_001357059.1:p.Arg149Gly, XP_011538031.1:p.Arg157Gly, XP_005269775.1:p.Arg149Gly, XP_047281086.1:p.Arg149Gly, XP_047281083.1:p.Arg157Gly, XP_047281085.1:p.Arg157Gly, XP_047281087.1:p.Arg157Gly

      3.

      rs1485935680 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        10:50836125 (GRCh38)
        10:52595885 (GRCh37)
        Canonical SPDI:
        NC_000010.11:50836124:C:A
        Gene:
        A1CF (Varview)
        Functional Consequence:
        coding_sequence_variant,stop_gained
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000010.11:g.50836125C>A, NC_000010.10:g.52595885C>A, NG_029916.1:g.54551G>T, NM_014576.4:c.553G>T, NM_014576.3:c.553G>T, NM_138933.3:c.577G>T, NM_138933.2:c.577G>T, NM_138932.3:c.553G>T, NM_138932.2:c.553G>T, NM_001198819.2:c.577G>T, NM_001198819.1:c.577G>T, NM_001198820.2:c.577G>T, NM_001198820.1:c.577G>T, NM_001198818.2:c.553G>T, NM_001198818.1:c.553G>T, NM_001370131.1:c.553G>T, NM_001370130.1:c.553G>T, XM_011539729.4:c.577G>T, XM_011539729.3:c.577G>T, XM_011539729.2:c.577G>T, XM_011539729.1:c.577G>T, XM_005269718.3:c.553G>T, XM_005269718.2:c.553G>T, XM_005269718.1:c.553G>T, XM_047425130.1:c.553G>T, XM_047425127.1:c.577G>T, XM_047425129.1:c.577G>T, XM_047425131.1:c.577G>T, NP_055391.2:p.Glu185Ter, NP_620311.1:p.Glu193Ter, NP_620310.1:p.Glu185Ter, NP_001185748.1:p.Glu193Ter, NP_001185749.1:p.Glu193Ter, NP_001185747.1:p.Glu185Ter, NP_001357060.1:p.Glu185Ter, NP_001357059.1:p.Glu185Ter, XP_011538031.1:p.Glu193Ter, XP_005269775.1:p.Glu185Ter, XP_047281086.1:p.Glu185Ter, XP_047281083.1:p.Glu193Ter, XP_047281085.1:p.Glu193Ter, XP_047281087.1:p.Glu193Ter

        4.

        rs1485902332 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          10:50836187 (GRCh38)
          10:52595947 (GRCh37)
          Canonical SPDI:
          NC_000010.11:50836186:A:G
          Gene:
          A1CF (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000008/2 (TOPMED)
          HGVS:
          NC_000010.11:g.50836187A>G, NC_000010.10:g.52595947A>G, NG_029916.1:g.54489T>C, NM_014576.4:c.491T>C, NM_014576.3:c.491T>C, NM_138933.3:c.515T>C, NM_138933.2:c.515T>C, NM_138932.3:c.491T>C, NM_138932.2:c.491T>C, NM_001198819.2:c.515T>C, NM_001198819.1:c.515T>C, NM_001198820.2:c.515T>C, NM_001198820.1:c.515T>C, NM_001198818.2:c.491T>C, NM_001198818.1:c.491T>C, NM_001370131.1:c.491T>C, NM_001370130.1:c.491T>C, XM_011539729.4:c.515T>C, XM_011539729.3:c.515T>C, XM_011539729.2:c.515T>C, XM_011539729.1:c.515T>C, XM_005269718.3:c.491T>C, XM_005269718.2:c.491T>C, XM_005269718.1:c.491T>C, XM_047425130.1:c.491T>C, XM_047425127.1:c.515T>C, XM_047425129.1:c.515T>C, XM_047425131.1:c.515T>C, NP_055391.2:p.Val164Ala, NP_620311.1:p.Val172Ala, NP_620310.1:p.Val164Ala, NP_001185748.1:p.Val172Ala, NP_001185749.1:p.Val172Ala, NP_001185747.1:p.Val164Ala, NP_001357060.1:p.Val164Ala, NP_001357059.1:p.Val164Ala, XP_011538031.1:p.Val172Ala, XP_005269775.1:p.Val164Ala, XP_047281086.1:p.Val164Ala, XP_047281083.1:p.Val172Ala, XP_047281085.1:p.Val172Ala, XP_047281087.1:p.Val172Ala

          5.

          rs1484045673 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            10:50814043 (GRCh38)
            10:52573803 (GRCh37)
            Canonical SPDI:
            NC_000010.11:50814042:A:G
            Gene:
            A1CF (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,synonymous_variant
            Validated:
            by frequency,by cluster
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            G=0.000035/1 (TOMMO)
            HGVS:

            6.

            rs1483071538 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              10:50820639 (GRCh38)
              10:52580399 (GRCh37)
              Canonical SPDI:
              NC_000010.11:50820638:C:T
              Gene:
              A1CF (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:

              7.

              rs1481925844 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                10:50828233 (GRCh38)
                10:52587993 (GRCh37)
                Canonical SPDI:
                NC_000010.11:50828232:C:A
                Gene:
                A1CF (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,missense_variant
                HGVS:
                NC_000010.11:g.50828233C>A, NC_000010.10:g.52587993C>A, NG_029916.1:g.62443G>T, NM_014576.4:c.667G>T, NM_014576.3:c.667G>T, NM_138933.3:c.691G>T, NM_138933.2:c.691G>T, NM_138932.3:c.667G>T, NM_138932.2:c.667G>T, NM_001198819.2:c.691G>T, NM_001198819.1:c.691G>T, NM_001198820.2:c.691G>T, NM_001198820.1:c.691G>T, NM_001198818.2:c.667G>T, NM_001198818.1:c.667G>T, NM_001370131.1:c.667G>T, NM_001370130.1:c.667G>T, XM_011539729.4:c.691G>T, XM_011539729.3:c.691G>T, XM_011539729.2:c.691G>T, XM_011539729.1:c.691G>T, XM_005269718.3:c.667G>T, XM_005269718.2:c.667G>T, XM_005269718.1:c.667G>T, XM_047425130.1:c.667G>T, XM_047425127.1:c.691G>T, XM_047425129.1:c.691G>T, NP_055391.2:p.Asp223Tyr, NP_620311.1:p.Asp231Tyr, NP_620310.1:p.Asp223Tyr, NP_001185748.1:p.Asp231Tyr, NP_001185749.1:p.Asp231Tyr, NP_001185747.1:p.Asp223Tyr, NP_001357060.1:p.Asp223Tyr, NP_001357059.1:p.Asp223Tyr, XP_011538031.1:p.Asp231Tyr, XP_005269775.1:p.Asp223Tyr, XP_047281086.1:p.Asp223Tyr, XP_047281083.1:p.Asp231Tyr, XP_047281085.1:p.Asp231Tyr

                8.

                rs1481390755 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  10:50836133 (GRCh38)
                  10:52595893 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:50836132:G:A
                  Gene:
                  A1CF (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_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_000010.11:g.50836133G>A, NC_000010.10:g.52595893G>A, NG_029916.1:g.54543C>T, NM_014576.4:c.545C>T, NM_014576.3:c.545C>T, NM_138933.3:c.569C>T, NM_138933.2:c.569C>T, NM_138932.3:c.545C>T, NM_138932.2:c.545C>T, NM_001198819.2:c.569C>T, NM_001198819.1:c.569C>T, NM_001198820.2:c.569C>T, NM_001198820.1:c.569C>T, NM_001198818.2:c.545C>T, NM_001198818.1:c.545C>T, NM_001370131.1:c.545C>T, NM_001370130.1:c.545C>T, XM_011539729.4:c.569C>T, XM_011539729.3:c.569C>T, XM_011539729.2:c.569C>T, XM_011539729.1:c.569C>T, XM_005269718.3:c.545C>T, XM_005269718.2:c.545C>T, XM_005269718.1:c.545C>T, XM_047425130.1:c.545C>T, XM_047425127.1:c.569C>T, XM_047425129.1:c.569C>T, XM_047425131.1:c.569C>T, NP_055391.2:p.Ala182Val, NP_620311.1:p.Ala190Val, NP_620310.1:p.Ala182Val, NP_001185748.1:p.Ala190Val, NP_001185749.1:p.Ala190Val, NP_001185747.1:p.Ala182Val, NP_001357060.1:p.Ala182Val, NP_001357059.1:p.Ala182Val, XP_011538031.1:p.Ala190Val, XP_005269775.1:p.Ala182Val, XP_047281086.1:p.Ala182Val, XP_047281083.1:p.Ala190Val, XP_047281085.1:p.Ala190Val, XP_047281087.1:p.Ala190Val

                  9.

                  rs1479670840 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    10:50809903 (GRCh38)
                    10:52569663 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:50809902:C:A
                    Gene:
                    A1CF (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000010.11:g.50809903C>A, NC_000010.10:g.52569663C>A, NG_029916.1:g.80773G>T, NM_014576.4:c.1600G>T, NM_014576.3:c.1600G>T, NM_138933.3:c.1624G>T, NM_138933.2:c.1624G>T, NM_138932.3:c.1624G>T, NM_138932.2:c.1624G>T, NM_001198819.2:c.1648G>T, NM_001198819.1:c.1648G>T, NM_001198820.2:c.1624G>T, NM_001198820.1:c.1624G>T, NM_001198818.2:c.1600G>T, NM_001198818.1:c.1600G>T, NM_001370131.1:c.1624G>T, NM_001370130.1:c.1600G>T, XM_011539729.4:c.1648G>T, XM_011539729.3:c.1648G>T, XM_011539729.2:c.1648G>T, XM_011539729.1:c.1648G>T, XM_005269718.3:c.1624G>T, XM_005269718.2:c.1624G>T, XM_005269718.1:c.1624G>T, XM_047425130.1:c.1624G>T, XM_047425127.1:c.1648G>T, XM_047425129.1:c.1624G>T, XM_047425131.1:c.1483G>T, NP_055391.2:p.Ala534Ser, NP_620311.1:p.Ala542Ser, NP_620310.1:p.Ala542Ser, NP_001185748.1:p.Ala550Ser, NP_001185749.1:p.Ala542Ser, NP_001185747.1:p.Ala534Ser, NP_001357060.1:p.Ala542Ser, NP_001357059.1:p.Ala534Ser, XP_011538031.1:p.Ala550Ser, XP_005269775.1:p.Ala542Ser, XP_047281086.1:p.Ala542Ser, XP_047281083.1:p.Ala550Ser, XP_047281085.1:p.Ala542Ser, XP_047281087.1:p.Ala495Ser

                    10.

                    rs1478802020 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      10:50811084 (GRCh38)
                      10:52570844 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:50811083:C:A
                      Gene:
                      A1CF (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000010.11:g.50811084C>A, NC_000010.10:g.52570844C>A, NG_029916.1:g.79592G>T, NM_014576.4:c.1416G>T, NM_014576.3:c.1416G>T, NM_138933.3:c.1440G>T, NM_138933.2:c.1440G>T, NM_138932.3:c.1440G>T, NM_138932.2:c.1440G>T, NM_001198819.2:c.1464G>T, NM_001198819.1:c.1464G>T, NM_001198820.2:c.1440G>T, NM_001198820.1:c.1440G>T, NM_001198818.2:c.1416G>T, NM_001198818.1:c.1416G>T, NM_001370131.1:c.1440G>T, NM_001370130.1:c.1416G>T, XM_011539729.4:c.1464G>T, XM_011539729.3:c.1464G>T, XM_011539729.2:c.1464G>T, XM_011539729.1:c.1464G>T, XM_005269718.3:c.1440G>T, XM_005269718.2:c.1440G>T, XM_005269718.1:c.1440G>T, XM_047425130.1:c.1440G>T, XM_047425127.1:c.1464G>T, XM_047425129.1:c.1440G>T, XM_047425131.1:c.1299G>T, NP_055391.2:p.Leu472Phe, NP_620311.1:p.Leu480Phe, NP_620310.1:p.Leu480Phe, NP_001185748.1:p.Leu488Phe, NP_001185749.1:p.Leu480Phe, NP_001185747.1:p.Leu472Phe, NP_001357060.1:p.Leu480Phe, NP_001357059.1:p.Leu472Phe, XP_011538031.1:p.Leu488Phe, XP_005269775.1:p.Leu480Phe, XP_047281086.1:p.Leu480Phe, XP_047281083.1:p.Leu488Phe, XP_047281085.1:p.Leu480Phe, XP_047281087.1:p.Leu433Phe

                      11.

                      rs1475554723 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        10:50816075 (GRCh38)
                        10:52575835 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:50816074:T:G
                        Gene:
                        A1CF (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000010.11:g.50816075T>G, NC_000010.10:g.52575835T>G, NG_029916.1:g.74601A>C, NM_014576.4:c.1072A>C, NM_014576.3:c.1072A>C, NM_138933.3:c.1096A>C, NM_138933.2:c.1096A>C, NM_138932.3:c.1072A>C, NM_138932.2:c.1072A>C, NM_001198819.2:c.1096A>C, NM_001198819.1:c.1096A>C, NM_001198820.2:c.1096A>C, NM_001198820.1:c.1096A>C, NM_001198818.2:c.1072A>C, NM_001198818.1:c.1072A>C, NM_001370131.1:c.1072A>C, NM_001370130.1:c.1072A>C, XM_011539729.4:c.1096A>C, XM_011539729.3:c.1096A>C, XM_011539729.2:c.1096A>C, XM_011539729.1:c.1096A>C, XM_005269718.3:c.1072A>C, XM_005269718.2:c.1072A>C, XM_005269718.1:c.1072A>C, XM_047425130.1:c.1072A>C, XM_047425127.1:c.1096A>C, XM_047425129.1:c.1096A>C, XM_047425131.1:c.931A>C, NP_055391.2:p.Ser358Arg, NP_620311.1:p.Ser366Arg, NP_620310.1:p.Ser358Arg, NP_001185748.1:p.Ser366Arg, NP_001185749.1:p.Ser366Arg, NP_001185747.1:p.Ser358Arg, NP_001357060.1:p.Ser358Arg, NP_001357059.1:p.Ser358Arg, XP_011538031.1:p.Ser366Arg, XP_005269775.1:p.Ser358Arg, XP_047281086.1:p.Ser358Arg, XP_047281083.1:p.Ser366Arg, XP_047281085.1:p.Ser366Arg, XP_047281087.1:p.Ser311Arg

                        12.

                        rs1473769945 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G,T [Show Flanks]
                          Chromosome:
                          10:50816122 (GRCh38)
                          10:52575882 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:50816121:A:G,NC_000010.11:50816121:A:T
                          Gene:
                          A1CF (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000010.11:g.50816122A>G, NC_000010.11:g.50816122A>T, NC_000010.10:g.52575882A>G, NC_000010.10:g.52575882A>T, NG_029916.1:g.74554T>C, NG_029916.1:g.74554T>A, NM_014576.4:c.1025T>C, NM_014576.4:c.1025T>A, NM_014576.3:c.1025T>C, NM_014576.3:c.1025T>A, NM_138933.3:c.1049T>C, NM_138933.3:c.1049T>A, NM_138933.2:c.1049T>C, NM_138933.2:c.1049T>A, NM_138932.3:c.1025T>C, NM_138932.3:c.1025T>A, NM_138932.2:c.1025T>C, NM_138932.2:c.1025T>A, NM_001198819.2:c.1049T>C, NM_001198819.2:c.1049T>A, NM_001198819.1:c.1049T>C, NM_001198819.1:c.1049T>A, NM_001198820.2:c.1049T>C, NM_001198820.2:c.1049T>A, NM_001198820.1:c.1049T>C, NM_001198820.1:c.1049T>A, NM_001198818.2:c.1025T>C, NM_001198818.2:c.1025T>A, NM_001198818.1:c.1025T>C, NM_001198818.1:c.1025T>A, NM_001370131.1:c.1025T>C, NM_001370131.1:c.1025T>A, NM_001370130.1:c.1025T>C, NM_001370130.1:c.1025T>A, XM_011539729.4:c.1049T>C, XM_011539729.4:c.1049T>A, XM_011539729.3:c.1049T>C, XM_011539729.3:c.1049T>A, XM_011539729.2:c.1049T>C, XM_011539729.2:c.1049T>A, XM_011539729.1:c.1049T>C, XM_011539729.1:c.1049T>A, XM_005269718.3:c.1025T>C, XM_005269718.3:c.1025T>A, XM_005269718.2:c.1025T>C, XM_005269718.2:c.1025T>A, XM_005269718.1:c.1025T>C, XM_005269718.1:c.1025T>A, XM_047425130.1:c.1025T>C, XM_047425130.1:c.1025T>A, XM_047425127.1:c.1049T>C, XM_047425127.1:c.1049T>A, XM_047425129.1:c.1049T>C, XM_047425129.1:c.1049T>A, XM_047425131.1:c.884T>C, XM_047425131.1:c.884T>A, NP_055391.2:p.Leu342Pro, NP_055391.2:p.Leu342His, NP_620311.1:p.Leu350Pro, NP_620311.1:p.Leu350His, NP_620310.1:p.Leu342Pro, NP_620310.1:p.Leu342His, NP_001185748.1:p.Leu350Pro, NP_001185748.1:p.Leu350His, NP_001185749.1:p.Leu350Pro, NP_001185749.1:p.Leu350His, NP_001185747.1:p.Leu342Pro, NP_001185747.1:p.Leu342His, NP_001357060.1:p.Leu342Pro, NP_001357060.1:p.Leu342His, NP_001357059.1:p.Leu342Pro, NP_001357059.1:p.Leu342His, XP_011538031.1:p.Leu350Pro, XP_011538031.1:p.Leu350His, XP_005269775.1:p.Leu342Pro, XP_005269775.1:p.Leu342His, XP_047281086.1:p.Leu342Pro, XP_047281086.1:p.Leu342His, XP_047281083.1:p.Leu350Pro, XP_047281083.1:p.Leu350His, XP_047281085.1:p.Leu350Pro, XP_047281085.1:p.Leu350His, XP_047281087.1:p.Leu295Pro, XP_047281087.1:p.Leu295His

                          13.

                          rs1470855958 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            10:50836074 (GRCh38)
                            10:52595834 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:50836073:C:A
                            Gene:
                            A1CF (Varview)
                            Functional Consequence:
                            coding_sequence_variant,stop_gained,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000010.11:g.50836074C>A, NC_000010.10:g.52595834C>A, NG_029916.1:g.54602G>T, NM_014576.4:c.604G>T, NM_014576.3:c.604G>T, NM_138933.3:c.628G>T, NM_138933.2:c.628G>T, NM_138932.3:c.604G>T, NM_138932.2:c.604G>T, NM_001198819.2:c.628G>T, NM_001198819.1:c.628G>T, NM_001198820.2:c.628G>T, NM_001198820.1:c.628G>T, NM_001198818.2:c.604G>T, NM_001198818.1:c.604G>T, NM_001370131.1:c.604G>T, NM_001370130.1:c.604G>T, XM_011539729.4:c.628G>T, XM_011539729.3:c.628G>T, XM_011539729.2:c.628G>T, XM_011539729.1:c.628G>T, XM_005269718.3:c.604G>T, XM_005269718.2:c.604G>T, XM_005269718.1:c.604G>T, XM_047425130.1:c.604G>T, XM_047425127.1:c.628G>T, XM_047425129.1:c.628G>T, XM_047425131.1:c.628G>T, NP_055391.2:p.Gly202Ter, NP_620311.1:p.Gly210Ter, NP_620310.1:p.Gly202Ter, NP_001185748.1:p.Gly210Ter, NP_001185749.1:p.Gly210Ter, NP_001185747.1:p.Gly202Ter, NP_001357060.1:p.Gly202Ter, NP_001357059.1:p.Gly202Ter, XP_011538031.1:p.Gly210Ter, XP_005269775.1:p.Gly202Ter, XP_047281086.1:p.Gly202Ter, XP_047281083.1:p.Gly210Ter, XP_047281085.1:p.Gly210Ter, XP_047281087.1:p.Gly210Cys

                            14.

                            rs1468197506 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              10:50810019 (GRCh38)
                              10:52569779 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:50810018:A:G
                              Gene:
                              A1CF (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000010.11:g.50810019A>G, NC_000010.10:g.52569779A>G, NG_029916.1:g.80657T>C, NM_014576.4:c.1484T>C, NM_014576.3:c.1484T>C, NM_138933.3:c.1508T>C, NM_138933.2:c.1508T>C, NM_138932.3:c.1508T>C, NM_138932.2:c.1508T>C, NM_001198819.2:c.1532T>C, NM_001198819.1:c.1532T>C, NM_001198820.2:c.1508T>C, NM_001198820.1:c.1508T>C, NM_001198818.2:c.1484T>C, NM_001198818.1:c.1484T>C, NM_001370131.1:c.1508T>C, NM_001370130.1:c.1484T>C, XM_011539729.4:c.1532T>C, XM_011539729.3:c.1532T>C, XM_011539729.2:c.1532T>C, XM_011539729.1:c.1532T>C, XM_005269718.3:c.1508T>C, XM_005269718.2:c.1508T>C, XM_005269718.1:c.1508T>C, XM_047425130.1:c.1508T>C, XM_047425127.1:c.1532T>C, XM_047425129.1:c.1508T>C, XM_047425131.1:c.1367T>C, NP_055391.2:p.Leu495Pro, NP_620311.1:p.Leu503Pro, NP_620310.1:p.Leu503Pro, NP_001185748.1:p.Leu511Pro, NP_001185749.1:p.Leu503Pro, NP_001185747.1:p.Leu495Pro, NP_001357060.1:p.Leu503Pro, NP_001357059.1:p.Leu495Pro, XP_011538031.1:p.Leu511Pro, XP_005269775.1:p.Leu503Pro, XP_047281086.1:p.Leu503Pro, XP_047281083.1:p.Leu511Pro, XP_047281085.1:p.Leu503Pro, XP_047281087.1:p.Leu456Pro

                              15.

                              rs1466858342 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                10:50841945 (GRCh38)
                                10:52601705 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:50841944:G:A
                                Gene:
                                A1CF (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000043/1 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000008/2 (TOPMED)
                                HGVS:

                                16.

                                rs1466140794 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  T>- [Show Flanks]
                                  Chromosome:
                                  10:50813884 (GRCh38)
                                  10:52573644 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:50813883:TTTT:TTT
                                  Gene:
                                  A1CF (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,frameshift_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  -=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000010.11:g.50813887del, NC_000010.10:g.52573647del, NG_029916.1:g.76792del, NM_014576.4:c.1296del, NM_014576.3:c.1296del, NM_138933.3:c.1320del, NM_138933.2:c.1320del, NM_138932.3:c.1320del, NM_138932.2:c.1320del, NM_001198819.2:c.1344del, NM_001198819.1:c.1344del, NM_001198820.2:c.1320del, NM_001198820.1:c.1320del, NM_001198818.2:c.1296del, NM_001198818.1:c.1296del, NM_001370131.1:c.1320del, NM_001370130.1:c.1296del, XM_011539729.4:c.1344del, XM_011539729.3:c.1344del, XM_011539729.2:c.1344del, XM_011539729.1:c.1344del, XM_005269718.3:c.1320del, XM_005269718.2:c.1320del, XM_005269718.1:c.1320del, XM_047425130.1:c.1320del, XM_047425127.1:c.1344del, XM_047425129.1:c.1320del, XM_047425131.1:c.1179del, NP_055391.2:p.Lys432fs, NP_620311.1:p.Lys440fs, NP_620310.1:p.Lys440fs, NP_001185748.1:p.Lys448fs, NP_001185749.1:p.Lys440fs, NP_001185747.1:p.Lys432fs, NP_001357060.1:p.Lys440fs, NP_001357059.1:p.Lys432fs, XP_011538031.1:p.Lys448fs, XP_005269775.1:p.Lys440fs, XP_047281086.1:p.Lys440fs, XP_047281083.1:p.Lys448fs, XP_047281085.1:p.Lys440fs, XP_047281087.1:p.Lys393fs

                                  17.

                                  rs1458838950 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    10:50806872 (GRCh38)
                                    10:52566632 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:50806871:C:G
                                    Gene:
                                    A1CF (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000010.11:g.50806872C>G, NC_000010.10:g.52566632C>G, NG_029916.1:g.83804G>C, NM_014576.4:c.1618G>C, NM_014576.3:c.1618G>C, NM_138933.3:c.1642G>C, NM_138933.2:c.1642G>C, NM_138932.3:c.1642G>C, NM_138932.2:c.1642G>C, NM_001198819.2:c.1666G>C, NM_001198819.1:c.1666G>C, NM_001198820.2:c.1642G>C, NM_001198820.1:c.1642G>C, NM_001198818.2:c.1618G>C, NM_001198818.1:c.1618G>C, NM_001370131.1:c.1642G>C, NM_001370130.1:c.1618G>C, XM_011539729.4:c.1666G>C, XM_011539729.3:c.1666G>C, XM_011539729.2:c.1666G>C, XM_011539729.1:c.1666G>C, XM_005269718.3:c.1642G>C, XM_005269718.2:c.1642G>C, XM_005269718.1:c.1642G>C, XM_047425130.1:c.1642G>C, XM_047425127.1:c.1666G>C, XM_047425129.1:c.1642G>C, XM_047425131.1:c.1501G>C, NP_055391.2:p.Val540Leu, NP_620311.1:p.Val548Leu, NP_620310.1:p.Val548Leu, NP_001185748.1:p.Val556Leu, NP_001185749.1:p.Val548Leu, NP_001185747.1:p.Val540Leu, NP_001357060.1:p.Val548Leu, NP_001357059.1:p.Val540Leu, XP_011538031.1:p.Val556Leu, XP_005269775.1:p.Val548Leu, XP_047281086.1:p.Val548Leu, XP_047281083.1:p.Val556Leu, XP_047281085.1:p.Val548Leu, XP_047281087.1:p.Val501Leu

                                    18.

                                    rs1456947571 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      10:50828185 (GRCh38)
                                      10:52587945 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:50828184:T:G
                                      Gene:
                                      A1CF (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000671/3 (ALFA)
                                      G=0.000021/3 (GnomAD)
                                      G=0.00067/3 (Estonian)
                                      HGVS:
                                      NC_000010.11:g.50828185T>G, NC_000010.10:g.52587945T>G, NG_029916.1:g.62491A>C, NM_014576.4:c.715A>C, NM_014576.3:c.715A>C, NM_138933.3:c.739A>C, NM_138933.2:c.739A>C, NM_138932.3:c.715A>C, NM_138932.2:c.715A>C, NM_001198819.2:c.739A>C, NM_001198819.1:c.739A>C, NM_001198820.2:c.739A>C, NM_001198820.1:c.739A>C, NM_001198818.2:c.715A>C, NM_001198818.1:c.715A>C, NM_001370131.1:c.715A>C, NM_001370130.1:c.715A>C, XM_011539729.4:c.739A>C, XM_011539729.3:c.739A>C, XM_011539729.2:c.739A>C, XM_011539729.1:c.739A>C, XM_005269718.3:c.715A>C, XM_005269718.2:c.715A>C, XM_005269718.1:c.715A>C, XM_047425130.1:c.715A>C, XM_047425127.1:c.739A>C, XM_047425129.1:c.739A>C, NP_055391.2:p.Met239Leu, NP_620311.1:p.Met247Leu, NP_620310.1:p.Met239Leu, NP_001185748.1:p.Met247Leu, NP_001185749.1:p.Met247Leu, NP_001185747.1:p.Met239Leu, NP_001357060.1:p.Met239Leu, NP_001357059.1:p.Met239Leu, XP_011538031.1:p.Met247Leu, XP_005269775.1:p.Met239Leu, XP_047281086.1:p.Met239Leu, XP_047281083.1:p.Met247Leu, XP_047281085.1:p.Met247Leu

                                      19.

                                      rs1454816625 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        10:50806768 (GRCh38)
                                        10:52566528 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:50806767:A:G
                                        Gene:
                                        A1CF (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1452864393 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          10:50850694 (GRCh38)
                                          10:52610454 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:50850693:A:G
                                          Gene:
                                          A1CF (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,intron_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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