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Items: 1 to 20 of 321

1.

rs1485747394 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    10:88989480 (GRCh38)
    10:90749237 (GRCh37)
    Canonical SPDI:
    NC_000010.11:88989479:G:A,NC_000010.11:88989479:G:C
    Gene:
    ACTA2 (Varview), FAS (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
    HGVS:
    NC_000010.11:g.88989480G>A, NC_000010.11:g.88989480G>C, NC_000010.10:g.90749237G>A, NC_000010.10:g.90749237G>C, NG_009089.2:g.3950G>A, NG_009089.2:g.3950G>C, NG_011541.1:g.6911C>T, NG_011541.1:g.6911C>G, XM_006717819.4:c.12G>A, XM_006717819.4:c.12G>C, XM_006717819.3:c.12G>A, XM_006717819.3:c.12G>C, XM_006717819.2:c.12G>A, XM_006717819.2:c.12G>C, XM_006717819.1:c.12G>A, XM_006717819.1:c.12G>C, XM_011539764.3:c.93G>A, XM_011539764.3:c.93G>C, XM_011539764.2:c.93G>A, XM_011539764.2:c.93G>C, XM_011539764.1:c.93G>A, XM_011539764.1:c.93G>C, XM_011539766.3:c.12G>A, XM_011539766.3:c.12G>C, XM_011539766.2:c.12G>A, XM_011539766.2:c.12G>C, XM_011539766.1:c.12G>A, XM_011539766.1:c.12G>C, XM_011539765.3:c.93G>A, XM_011539765.3:c.93G>C, XM_011539765.2:c.93G>A, XM_011539765.2:c.93G>C, XM_011539765.1:c.93G>A, XM_011539765.1:c.93G>C, XM_047425179.1:c.93G>A, XM_047425179.1:c.93G>C, XM_047425180.1:c.93G>A, XM_047425180.1:c.93G>C

    2.

    rs1484157800 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CAGAG>- [Show Flanks]
      Chromosome:
      10:88989545 (GRCh38)
      10:90749302 (GRCh37)
      Canonical SPDI:
      NC_000010.11:88989544:CAGAG:
      Gene:
      ACTA2 (Varview), FAS (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,frameshift_variant,upstream_transcript_variant
      HGVS:

      3.

      rs1480416112 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        10:89008913 (GRCh38)
        10:90768670 (GRCh37)
        Canonical SPDI:
        NC_000010.11:89008912:C:T
        Gene:
        FAS (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000010.11:g.89008913C>T, NC_000010.10:g.90768670C>T, NG_009089.2:g.23383C>T, NM_000043.6:c.359C>T, NM_000043.5:c.359C>T, NM_000043.4:c.359C>T, NM_152872.4:c.359C>T, NM_152872.3:c.359C>T, NM_152872.2:c.359C>T, NM_152871.4:c.359C>T, NM_152871.3:c.359C>T, NM_152871.2:c.359C>T, NR_135314.2:n.525C>T, NR_135314.1:n.668C>T, NM_001320619.2:c.359C>T, NM_001320619.1:c.359C>T, NM_001410956.1:c.404C>T, XM_006717819.4:c.440C>T, XM_006717819.3:c.440C>T, XM_006717819.2:c.440C>T, XM_006717819.1:c.440C>T, XM_011539767.4:c.404C>T, XM_011539764.3:c.521C>T, XM_011539764.2:c.521C>T, XM_011539764.1:c.521C>T, XM_011539766.3:c.440C>T, XM_011539766.2:c.440C>T, XM_011539766.1:c.440C>T, XM_011539765.3:c.521C>T, XM_011539765.2:c.521C>T, XM_011539765.1:c.521C>T, XM_047425178.1:c.404C>T, NP_000034.1:p.Thr120Ile, NP_690611.1:p.Thr120Ile, NP_690610.1:p.Thr120Ile, NP_001307548.1:p.Thr120Ile, XP_006717882.1:p.Thr147Ile, XP_011538069.1:p.Thr135Ile, XP_011538066.1:p.Thr174Ile, XP_011538068.1:p.Thr147Ile, XP_011538067.1:p.Thr174Ile, XP_047281134.1:p.Thr135Ile

        4.

        rs1476962183 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          10:89003070 (GRCh38)
          10:90762827 (GRCh37)
          Canonical SPDI:
          NC_000010.11:89003069:T:C
          Gene:
          FAS (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          HGVS:
          NC_000010.11:g.89003070T>C, NC_000010.10:g.90762827T>C, NG_009089.2:g.17540T>C, NM_000043.6:c.72T>C, NM_000043.5:c.72T>C, NM_000043.4:c.72T>C, NM_152872.4:c.72T>C, NM_152872.3:c.72T>C, NM_152872.2:c.72T>C, NM_152871.4:c.72T>C, NM_152871.3:c.72T>C, NM_152871.2:c.72T>C, NR_028036.4:n.151T>C, NR_028036.3:n.390T>C, NR_028036.2:n.418T>C, NR_028033.4:n.151T>C, NR_028033.3:n.390T>C, NR_028033.2:n.418T>C, NR_028035.4:n.151T>C, NR_028035.3:n.390T>C, NR_028035.2:n.418T>C, NR_028034.4:n.151T>C, NR_028034.3:n.390T>C, NR_028034.2:n.418T>C, NR_135314.2:n.238T>C, NR_135314.1:n.381T>C, NM_001320619.2:c.72T>C, NM_001320619.1:c.72T>C, NR_135315.2:n.238T>C, NR_135315.1:n.381T>C, NR_135313.2:n.151T>C, NR_135313.1:n.390T>C, NM_001410956.1:c.117T>C, XM_006717819.4:c.153T>C, XM_006717819.3:c.153T>C, XM_006717819.2:c.153T>C, XM_006717819.1:c.153T>C, XM_011539767.4:c.117T>C, XM_011539764.3:c.234T>C, XM_011539764.2:c.234T>C, XM_011539764.1:c.234T>C, XM_011539766.3:c.153T>C, XM_011539766.2:c.153T>C, XM_011539766.1:c.153T>C, XM_011539765.3:c.234T>C, XM_011539765.2:c.234T>C, XM_011539765.1:c.234T>C, XM_047425178.1:c.117T>C, NM_152873.1:c.72T>C, NM_152875.1:c.72T>C, NM_152874.1:c.72T>C, NM_152877.1:c.72T>C, NM_152876.1:c.72T>C, XM_047425179.1:c.234T>C, XM_047425180.1:c.234T>C

          5.

          rs1475820915 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            10:89014385 (GRCh38)
            10:90774142 (GRCh37)
            Canonical SPDI:
            NC_000010.11:89014384:C:T
            Gene:
            FAS (Varview)
            Functional Consequence:
            3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
            Clinical significance:
            uncertain-significance
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000024/6 (GnomAD_exomes)
            HGVS:
            NC_000010.11:g.89014385C>T, NC_000010.10:g.90774142C>T, NG_009089.2:g.28855C>T, NM_000043.6:c.943C>T, NM_000043.5:c.943C>T, NM_000043.4:c.943C>T, NM_152872.4:c.*255C>T, NM_152872.3:c.*255C>T, NM_152872.2:c.*255C>T, NM_152871.4:c.880C>T, NM_152871.3:c.880C>T, NM_152871.2:c.880C>T, NR_028036.4:n.913C>T, NR_028036.3:n.1152C>T, NR_028036.2:n.1180C>T, NR_028033.4:n.850C>T, NR_028033.3:n.1089C>T, NR_028033.2:n.1117C>T, NR_028035.4:n.775C>T, NR_028035.3:n.1014C>T, NR_028035.2:n.1042C>T, NR_028034.4:n.712C>T, NR_028034.3:n.951C>T, NR_028034.2:n.979C>T, NR_135314.2:n.1109C>T, NR_135314.1:n.1252C>T, NM_001320619.2:c.*266C>T, NM_001320619.1:c.*266C>T, NR_135315.2:n.862C>T, NR_135315.1:n.1005C>T, NR_135313.2:n.830C>T, NR_135313.1:n.1069C>T, NM_001410956.1:c.988C>T, XM_006717819.4:c.1024C>T, XM_006717819.3:c.1024C>T, XM_006717819.2:c.1024C>T, XM_006717819.1:c.1024C>T, XM_011539767.4:c.988C>T, XM_011539764.3:c.1105C>T, XM_011539764.2:c.1105C>T, XM_011539764.1:c.1105C>T, XM_011539766.3:c.1024C>T, XM_011539766.2:c.1024C>T, XM_011539766.1:c.1024C>T, XM_011539765.3:c.1042C>T, XM_011539765.2:c.1042C>T, XM_011539765.1:c.1042C>T, XM_047425178.1:c.925C>T, NM_152873.1:c.*384C>T, NM_152875.1:c.*372C>T, NM_152874.1:c.*301C>T, NM_152877.1:c.*384C>T, NM_152876.1:c.*372C>T, NP_000034.1:p.Leu315Phe, NP_690610.1:p.Leu294Phe, XP_006717882.1:p.Leu342Phe, XP_011538069.1:p.Leu330Phe, XP_011538066.1:p.Leu369Phe, XP_011538068.1:p.Leu342Phe, XP_011538067.1:p.Leu348Phe, XP_047281134.1:p.Leu309Phe

            6.

            rs1474732979 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              10:88989578 (GRCh38)
              10:90749335 (GRCh37)
              Canonical SPDI:
              NC_000010.11:88989577:T:A
              Gene:
              ACTA2 (Varview), FAS (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:

              7.

              rs1472763226 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                10:88983012 (GRCh38)
                10:90742769 (GRCh37)
                Canonical SPDI:
                NC_000010.11:88983011:G:A,NC_000010.11:88983011:G:C
                Gene:
                ACTA2 (Varview), FAS (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                C=0.00018/3 (TOMMO)
                HGVS:

                8.

                rs1470577555 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  10:89013362 (GRCh38)
                  10:90773119 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:89013361:T:A
                  Gene:
                  FAS (Varview)
                  Functional Consequence:
                  coding_sequence_variant,stop_gained,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000010.11:g.89013362T>A, NC_000010.10:g.90773119T>A, NG_009089.2:g.27832T>A, NM_000043.6:c.671T>A, NM_000043.5:c.671T>A, NM_000043.4:c.671T>A, NM_152871.4:c.608T>A, NM_152871.3:c.608T>A, NM_152871.2:c.608T>A, NR_028036.4:n.641T>A, NR_028036.3:n.880T>A, NR_028036.2:n.908T>A, NR_028033.4:n.578T>A, NR_028033.3:n.817T>A, NR_028033.2:n.845T>A, NR_028035.4:n.503T>A, NR_028035.3:n.742T>A, NR_028035.2:n.770T>A, NR_028034.4:n.440T>A, NR_028034.3:n.679T>A, NR_028034.2:n.707T>A, NR_135314.2:n.837T>A, NR_135314.1:n.980T>A, NM_001320619.2:c.588T>A, NM_001320619.1:c.588T>A, NR_135315.2:n.590T>A, NR_135315.1:n.733T>A, NR_135313.2:n.558T>A, NR_135313.1:n.797T>A, NM_001410956.1:c.716T>A, XM_006717819.4:c.752T>A, XM_006717819.3:c.752T>A, XM_006717819.2:c.752T>A, XM_006717819.1:c.752T>A, XM_011539767.4:c.716T>A, XM_011539764.3:c.833T>A, XM_011539764.2:c.833T>A, XM_011539764.1:c.833T>A, XM_011539766.3:c.752T>A, XM_011539766.2:c.752T>A, XM_011539766.1:c.752T>A, XM_011539765.3:c.770T>A, XM_011539765.2:c.770T>A, XM_011539765.1:c.770T>A, XM_047425178.1:c.653T>A, NM_152873.1:c.*112T>A, NM_152875.1:c.*100T>A, NM_152874.1:c.*29T>A, NM_152877.1:c.*112T>A, NM_152876.1:c.*100T>A, NP_000034.1:p.Leu224Ter, NP_690610.1:p.Leu203Ter, NP_001307548.1:p.Phe196Leu, XP_006717882.1:p.Leu251Ter, XP_011538069.1:p.Leu239Ter, XP_011538066.1:p.Leu278Ter, XP_011538068.1:p.Leu251Ter, XP_011538067.1:p.Leu257Ter, XP_047281134.1:p.Leu218Ter

                  9.

                  rs1468604275 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    10:89014365 (GRCh38)
                    10:90774122 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:89014364:A:G
                    Gene:
                    FAS (Varview)
                    Functional Consequence:
                    coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                    HGVS:
                    NC_000010.11:g.89014365A>G, NC_000010.10:g.90774122A>G, NG_009089.2:g.28835A>G, NM_000043.6:c.923A>G, NM_000043.5:c.923A>G, NM_000043.4:c.923A>G, NM_152872.4:c.*235A>G, NM_152872.3:c.*235A>G, NM_152872.2:c.*235A>G, NM_152871.4:c.860A>G, NM_152871.3:c.860A>G, NM_152871.2:c.860A>G, NR_028036.4:n.893A>G, NR_028036.3:n.1132A>G, NR_028036.2:n.1160A>G, NR_028033.4:n.830A>G, NR_028033.3:n.1069A>G, NR_028033.2:n.1097A>G, NR_028035.4:n.755A>G, NR_028035.3:n.994A>G, NR_028035.2:n.1022A>G, NR_028034.4:n.692A>G, NR_028034.3:n.931A>G, NR_028034.2:n.959A>G, NR_135314.2:n.1089A>G, NR_135314.1:n.1232A>G, NM_001320619.2:c.*246A>G, NM_001320619.1:c.*246A>G, NR_135315.2:n.842A>G, NR_135315.1:n.985A>G, NR_135313.2:n.810A>G, NR_135313.1:n.1049A>G, NM_001410956.1:c.968A>G, XM_006717819.4:c.1004A>G, XM_006717819.3:c.1004A>G, XM_006717819.2:c.1004A>G, XM_006717819.1:c.1004A>G, XM_011539767.4:c.968A>G, XM_011539764.3:c.1085A>G, XM_011539764.2:c.1085A>G, XM_011539764.1:c.1085A>G, XM_011539766.3:c.1004A>G, XM_011539766.2:c.1004A>G, XM_011539766.1:c.1004A>G, XM_011539765.3:c.1022A>G, XM_011539765.2:c.1022A>G, XM_011539765.1:c.1022A>G, XM_047425178.1:c.905A>G, NM_152873.1:c.*364A>G, NM_152875.1:c.*352A>G, NM_152874.1:c.*281A>G, NM_152877.1:c.*364A>G, NM_152876.1:c.*352A>G, NP_000034.1:p.Glu308Gly, NP_690610.1:p.Glu287Gly, XP_006717882.1:p.Glu335Gly, XP_011538069.1:p.Glu323Gly, XP_011538066.1:p.Glu362Gly, XP_011538068.1:p.Glu335Gly, XP_011538067.1:p.Glu341Gly, XP_047281134.1:p.Glu302Gly

                    10.

                    rs1467256753 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      10:88989569 (GRCh38)
                      10:90749326 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:88989568:C:T
                      Gene:
                      ACTA2 (Varview), FAS (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:

                      11.

                      rs1462888256 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        10:89010574 (GRCh38)
                        10:90770331 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:89010573:C:A
                        Gene:
                        FAS (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000111/1 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000010.11:g.89010574C>A, NC_000010.10:g.90770331C>A, NG_009089.2:g.25044C>A, NM_000043.6:c.479C>A, NM_000043.5:c.479C>A, NM_000043.4:c.479C>A, NM_152872.4:c.479C>A, NM_152872.3:c.479C>A, NM_152872.2:c.479C>A, NM_152871.4:c.479C>A, NM_152871.3:c.479C>A, NM_152871.2:c.479C>A, NR_028036.4:n.449C>A, NR_028036.3:n.688C>A, NR_028036.2:n.716C>A, NR_028033.4:n.449C>A, NR_028033.3:n.688C>A, NR_028033.2:n.716C>A, NR_028035.4:n.311C>A, NR_028035.3:n.550C>A, NR_028035.2:n.578C>A, NR_028034.4:n.311C>A, NR_028034.3:n.550C>A, NR_028034.2:n.578C>A, NR_135314.2:n.645C>A, NR_135314.1:n.788C>A, NM_001320619.2:c.479C>A, NM_001320619.1:c.479C>A, NR_135315.2:n.398C>A, NR_135315.1:n.541C>A, NR_135313.2:n.449C>A, NR_135313.1:n.688C>A, NM_001410956.1:c.524C>A, XM_006717819.4:c.560C>A, XM_006717819.3:c.560C>A, XM_006717819.2:c.560C>A, XM_006717819.1:c.560C>A, XM_011539767.4:c.524C>A, XM_011539764.3:c.641C>A, XM_011539764.2:c.641C>A, XM_011539764.1:c.641C>A, XM_011539766.3:c.560C>A, XM_011539766.2:c.560C>A, XM_011539766.1:c.560C>A, XM_011539765.3:c.641C>A, XM_011539765.2:c.641C>A, XM_011539765.1:c.641C>A, XM_047425178.1:c.524C>A, NM_152873.1:c.370C>A, NM_152875.1:c.370C>A, NM_152874.1:c.370C>A, NM_152877.1:c.232C>A, NM_152876.1:c.232C>A, XM_047425179.1:c.532C>A, XM_047425180.1:c.532C>A, NP_000034.1:p.Thr160Asn, NP_690611.1:p.Thr160Asn, NP_690610.1:p.Thr160Asn, NP_001307548.1:p.Thr160Asn, XP_006717882.1:p.Thr187Asn, XP_011538069.1:p.Thr175Asn, XP_011538066.1:p.Thr214Asn, XP_011538068.1:p.Thr187Asn, XP_011538067.1:p.Thr214Asn, XP_047281134.1:p.Thr175Asn, XP_047281135.1:p.Pro178Thr, XP_047281136.1:p.Pro178Thr

                        12.

                        rs1458560016 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          10:89014145 (GRCh38)
                          10:90773902 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:89014144:A:C
                          Gene:
                          FAS (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000010.11:g.89014145A>C, NC_000010.10:g.90773902A>C, NG_009089.2:g.28615A>C, NM_000043.6:c.703A>C, NM_000043.5:c.703A>C, NM_000043.4:c.703A>C, NM_152872.4:c.*15A>C, NM_152872.3:c.*15A>C, NM_152872.2:c.*15A>C, NM_152871.4:c.640A>C, NM_152871.3:c.640A>C, NM_152871.2:c.640A>C, NR_028036.4:n.673A>C, NR_028036.3:n.912A>C, NR_028036.2:n.940A>C, NR_028033.4:n.610A>C, NR_028033.3:n.849A>C, NR_028033.2:n.877A>C, NR_028035.4:n.535A>C, NR_028035.3:n.774A>C, NR_028035.2:n.802A>C, NR_028034.4:n.472A>C, NR_028034.3:n.711A>C, NR_028034.2:n.739A>C, NR_135314.2:n.869A>C, NR_135314.1:n.1012A>C, NM_001320619.2:c.*26A>C, NM_001320619.1:c.*26A>C, NR_135315.2:n.622A>C, NR_135315.1:n.765A>C, NR_135313.2:n.590A>C, NR_135313.1:n.829A>C, NM_001410956.1:c.748A>C, XM_006717819.4:c.784A>C, XM_006717819.3:c.784A>C, XM_006717819.2:c.784A>C, XM_006717819.1:c.784A>C, XM_011539767.4:c.748A>C, XM_011539764.3:c.865A>C, XM_011539764.2:c.865A>C, XM_011539764.1:c.865A>C, XM_011539766.3:c.784A>C, XM_011539766.2:c.784A>C, XM_011539766.1:c.784A>C, XM_011539765.3:c.802A>C, XM_011539765.2:c.802A>C, XM_011539765.1:c.802A>C, XM_047425178.1:c.685A>C, NM_152873.1:c.*144A>C, NM_152875.1:c.*132A>C, NM_152874.1:c.*61A>C, NM_152877.1:c.*144A>C, NM_152876.1:c.*132A>C, NP_000034.1:p.Thr235Pro, NP_690610.1:p.Thr214Pro, XP_006717882.1:p.Thr262Pro, XP_011538069.1:p.Thr250Pro, XP_011538066.1:p.Thr289Pro, XP_011538068.1:p.Thr262Pro, XP_011538067.1:p.Thr268Pro, XP_047281134.1:p.Thr229Pro

                          13.

                          rs1457691565 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            10:89003068 (GRCh38)
                            10:90762825 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:89003067:A:G
                            Gene:
                            FAS (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000010.11:g.89003068A>G, NC_000010.10:g.90762825A>G, NG_009089.2:g.17538A>G, NM_000043.6:c.70A>G, NM_000043.5:c.70A>G, NM_000043.4:c.70A>G, NM_152872.4:c.70A>G, NM_152872.3:c.70A>G, NM_152872.2:c.70A>G, NM_152871.4:c.70A>G, NM_152871.3:c.70A>G, NM_152871.2:c.70A>G, NR_028036.4:n.149A>G, NR_028036.3:n.388A>G, NR_028036.2:n.416A>G, NR_028033.4:n.149A>G, NR_028033.3:n.388A>G, NR_028033.2:n.416A>G, NR_028035.4:n.149A>G, NR_028035.3:n.388A>G, NR_028035.2:n.416A>G, NR_028034.4:n.149A>G, NR_028034.3:n.388A>G, NR_028034.2:n.416A>G, NR_135314.2:n.236A>G, NR_135314.1:n.379A>G, NM_001320619.2:c.70A>G, NM_001320619.1:c.70A>G, NR_135315.2:n.236A>G, NR_135315.1:n.379A>G, NR_135313.2:n.149A>G, NR_135313.1:n.388A>G, NM_001410956.1:c.115A>G, XM_006717819.4:c.151A>G, XM_006717819.3:c.151A>G, XM_006717819.2:c.151A>G, XM_006717819.1:c.151A>G, XM_011539767.4:c.115A>G, XM_011539764.3:c.232A>G, XM_011539764.2:c.232A>G, XM_011539764.1:c.232A>G, XM_011539766.3:c.151A>G, XM_011539766.2:c.151A>G, XM_011539766.1:c.151A>G, XM_011539765.3:c.232A>G, XM_011539765.2:c.232A>G, XM_011539765.1:c.232A>G, XM_047425178.1:c.115A>G, NM_152873.1:c.70A>G, NM_152875.1:c.70A>G, NM_152874.1:c.70A>G, NM_152877.1:c.70A>G, NM_152876.1:c.70A>G, XM_047425179.1:c.232A>G, XM_047425180.1:c.232A>G, NP_000034.1:p.Asn24Asp, NP_690611.1:p.Asn24Asp, NP_690610.1:p.Asn24Asp, NP_001307548.1:p.Asn24Asp, XP_006717882.1:p.Asn51Asp, XP_011538069.1:p.Asn39Asp, XP_011538066.1:p.Asn78Asp, XP_011538068.1:p.Asn51Asp, XP_011538067.1:p.Asn78Asp, XP_047281134.1:p.Asn39Asp, XP_047281135.1:p.Asn78Asp, XP_047281136.1:p.Asn78Asp

                            14.

                            rs1452698941 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              10:89003165 (GRCh38)
                              10:90762922 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:89003164:G:A
                              Gene:
                              FAS (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000012/3 (GnomAD_exomes)
                              A=0.000035/1 (TOMMO)
                              HGVS:
                              NC_000010.11:g.89003165G>A, NC_000010.10:g.90762922G>A, NG_009089.2:g.17635G>A, NM_000043.6:c.167G>A, NM_000043.5:c.167G>A, NM_000043.4:c.167G>A, NM_152872.4:c.167G>A, NM_152872.3:c.167G>A, NM_152872.2:c.167G>A, NM_152871.4:c.167G>A, NM_152871.3:c.167G>A, NM_152871.2:c.167G>A, NR_028036.4:n.246G>A, NR_028036.3:n.485G>A, NR_028036.2:n.513G>A, NR_028033.4:n.246G>A, NR_028033.3:n.485G>A, NR_028033.2:n.513G>A, NR_028035.4:n.246G>A, NR_028035.3:n.485G>A, NR_028035.2:n.513G>A, NR_028034.4:n.246G>A, NR_028034.3:n.485G>A, NR_028034.2:n.513G>A, NR_135314.2:n.333G>A, NR_135314.1:n.476G>A, NM_001320619.2:c.167G>A, NM_001320619.1:c.167G>A, NR_135315.2:n.333G>A, NR_135315.1:n.476G>A, NR_135313.2:n.246G>A, NR_135313.1:n.485G>A, NM_001410956.1:c.212G>A, XM_006717819.4:c.248G>A, XM_006717819.3:c.248G>A, XM_006717819.2:c.248G>A, XM_006717819.1:c.248G>A, XM_011539767.4:c.212G>A, XM_011539764.3:c.329G>A, XM_011539764.2:c.329G>A, XM_011539764.1:c.329G>A, XM_011539766.3:c.248G>A, XM_011539766.2:c.248G>A, XM_011539766.1:c.248G>A, XM_011539765.3:c.329G>A, XM_011539765.2:c.329G>A, XM_011539765.1:c.329G>A, XM_047425178.1:c.212G>A, NM_152873.1:c.167G>A, NM_152875.1:c.167G>A, NM_152874.1:c.167G>A, NM_152877.1:c.167G>A, NM_152876.1:c.167G>A, XM_047425179.1:c.329G>A, XM_047425180.1:c.329G>A, NP_000034.1:p.Gly56Asp, NP_690611.1:p.Gly56Asp, NP_690610.1:p.Gly56Asp, NP_001307548.1:p.Gly56Asp, XP_006717882.1:p.Gly83Asp, XP_011538069.1:p.Gly71Asp, XP_011538066.1:p.Gly110Asp, XP_011538068.1:p.Gly83Asp, XP_011538067.1:p.Gly110Asp, XP_047281134.1:p.Gly71Asp, XP_047281135.1:p.Gly110Asp, XP_047281136.1:p.Gly110Asp

                              15.

                              rs1449711911 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                10:89014343 (GRCh38)
                                10:90774100 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:89014342:G:A
                                Gene:
                                FAS (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                Clinical significance:
                                uncertain-significance
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000010.11:g.89014343G>A, NC_000010.10:g.90774100G>A, NG_009089.2:g.28813G>A, NM_000043.6:c.901G>A, NM_000043.5:c.901G>A, NM_000043.4:c.901G>A, NM_152872.4:c.*213G>A, NM_152872.3:c.*213G>A, NM_152872.2:c.*213G>A, NM_152871.4:c.838G>A, NM_152871.3:c.838G>A, NM_152871.2:c.838G>A, NR_028036.4:n.871G>A, NR_028036.3:n.1110G>A, NR_028036.2:n.1138G>A, NR_028033.4:n.808G>A, NR_028033.3:n.1047G>A, NR_028033.2:n.1075G>A, NR_028035.4:n.733G>A, NR_028035.3:n.972G>A, NR_028035.2:n.1000G>A, NR_028034.4:n.670G>A, NR_028034.3:n.909G>A, NR_028034.2:n.937G>A, NR_135314.2:n.1067G>A, NR_135314.1:n.1210G>A, NM_001320619.2:c.*224G>A, NM_001320619.1:c.*224G>A, NR_135315.2:n.820G>A, NR_135315.1:n.963G>A, NR_135313.2:n.788G>A, NR_135313.1:n.1027G>A, NM_001410956.1:c.946G>A, XM_006717819.4:c.982G>A, XM_006717819.3:c.982G>A, XM_006717819.2:c.982G>A, XM_006717819.1:c.982G>A, XM_011539767.4:c.946G>A, XM_011539764.3:c.1063G>A, XM_011539764.2:c.1063G>A, XM_011539764.1:c.1063G>A, XM_011539766.3:c.982G>A, XM_011539766.2:c.982G>A, XM_011539766.1:c.982G>A, XM_011539765.3:c.1000G>A, XM_011539765.2:c.1000G>A, XM_011539765.1:c.1000G>A, XM_047425178.1:c.883G>A, NM_152873.1:c.*342G>A, NM_152875.1:c.*330G>A, NM_152874.1:c.*259G>A, NM_152877.1:c.*342G>A, NM_152876.1:c.*330G>A, NP_000034.1:p.Ala301Thr, NP_690610.1:p.Ala280Thr, XP_006717882.1:p.Ala328Thr, XP_011538069.1:p.Ala316Thr, XP_011538066.1:p.Ala355Thr, XP_011538068.1:p.Ala328Thr, XP_011538067.1:p.Ala334Thr, XP_047281134.1:p.Ala295Thr

                                16.

                                rs1444374860 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  10:89014338 (GRCh38)
                                  10:90774095 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:89014337:A:G
                                  Gene:
                                  FAS (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000010.11:g.89014338A>G, NC_000010.10:g.90774095A>G, NG_009089.2:g.28808A>G, NM_000043.6:c.896A>G, NM_000043.5:c.896A>G, NM_000043.4:c.896A>G, NM_152872.4:c.*208A>G, NM_152872.3:c.*208A>G, NM_152872.2:c.*208A>G, NM_152871.4:c.833A>G, NM_152871.3:c.833A>G, NM_152871.2:c.833A>G, NR_028036.4:n.866A>G, NR_028036.3:n.1105A>G, NR_028036.2:n.1133A>G, NR_028033.4:n.803A>G, NR_028033.3:n.1042A>G, NR_028033.2:n.1070A>G, NR_028035.4:n.728A>G, NR_028035.3:n.967A>G, NR_028035.2:n.995A>G, NR_028034.4:n.665A>G, NR_028034.3:n.904A>G, NR_028034.2:n.932A>G, NR_135314.2:n.1062A>G, NR_135314.1:n.1205A>G, NM_001320619.2:c.*219A>G, NM_001320619.1:c.*219A>G, NR_135315.2:n.815A>G, NR_135315.1:n.958A>G, NR_135313.2:n.783A>G, NR_135313.1:n.1022A>G, NM_001410956.1:c.941A>G, XM_006717819.4:c.977A>G, XM_006717819.3:c.977A>G, XM_006717819.2:c.977A>G, XM_006717819.1:c.977A>G, XM_011539767.4:c.941A>G, XM_011539764.3:c.1058A>G, XM_011539764.2:c.1058A>G, XM_011539764.1:c.1058A>G, XM_011539766.3:c.977A>G, XM_011539766.2:c.977A>G, XM_011539766.1:c.977A>G, XM_011539765.3:c.995A>G, XM_011539765.2:c.995A>G, XM_011539765.1:c.995A>G, XM_047425178.1:c.878A>G, NM_152873.1:c.*337A>G, NM_152875.1:c.*325A>G, NM_152874.1:c.*254A>G, NM_152877.1:c.*337A>G, NM_152876.1:c.*325A>G, NP_000034.1:p.Lys299Arg, NP_690610.1:p.Lys278Arg, XP_006717882.1:p.Lys326Arg, XP_011538069.1:p.Lys314Arg, XP_011538066.1:p.Lys353Arg, XP_011538068.1:p.Lys326Arg, XP_011538067.1:p.Lys332Arg, XP_047281134.1:p.Lys293Arg

                                  17.

                                  rs1442207718 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    10:89008927 (GRCh38)
                                    10:90768684 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:89008926:A:G
                                    Gene:
                                    FAS (Varview)
                                    Functional Consequence:
                                    intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000010.11:g.89008927A>G, NC_000010.10:g.90768684A>G, NG_009089.2:g.23397A>G, NM_000043.6:c.373A>G, NM_000043.5:c.373A>G, NM_000043.4:c.373A>G, NM_152872.4:c.373A>G, NM_152872.3:c.373A>G, NM_152872.2:c.373A>G, NM_152871.4:c.373A>G, NM_152871.3:c.373A>G, NM_152871.2:c.373A>G, NR_135314.2:n.539A>G, NR_135314.1:n.682A>G, NM_001320619.2:c.373A>G, NM_001320619.1:c.373A>G, NM_001410956.1:c.418A>G, XM_006717819.4:c.454A>G, XM_006717819.3:c.454A>G, XM_006717819.2:c.454A>G, XM_006717819.1:c.454A>G, XM_011539767.4:c.418A>G, XM_011539764.3:c.535A>G, XM_011539764.2:c.535A>G, XM_011539764.1:c.535A>G, XM_011539766.3:c.454A>G, XM_011539766.2:c.454A>G, XM_011539766.1:c.454A>G, XM_011539765.3:c.535A>G, XM_011539765.2:c.535A>G, XM_011539765.1:c.535A>G, XM_047425178.1:c.418A>G, NP_000034.1:p.Thr125Ala, NP_690611.1:p.Thr125Ala, NP_690610.1:p.Thr125Ala, NP_001307548.1:p.Thr125Ala, XP_006717882.1:p.Thr152Ala, XP_011538069.1:p.Thr140Ala, XP_011538066.1:p.Thr179Ala, XP_011538068.1:p.Thr152Ala, XP_011538067.1:p.Thr179Ala, XP_047281134.1:p.Thr140Ala

                                    18.

                                    rs1436258740 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      10:89012028 (GRCh38)
                                      10:90771785 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:89012027:A:G
                                      Gene:
                                      FAS (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000010.11:g.89012028A>G, NC_000010.10:g.90771785A>G, NG_009089.2:g.26498A>G, NM_000043.6:c.598A>G, NM_000043.5:c.598A>G, NM_000043.4:c.598A>G, NM_152872.4:c.598A>G, NM_152872.3:c.598A>G, NM_152872.2:c.598A>G, NM_152871.4:c.535A>G, NM_152871.3:c.535A>G, NM_152871.2:c.535A>G, NR_028036.4:n.568A>G, NR_028036.3:n.807A>G, NR_028036.2:n.835A>G, NR_028033.4:n.505A>G, NR_028033.3:n.744A>G, NR_028033.2:n.772A>G, NR_028035.4:n.430A>G, NR_028035.3:n.669A>G, NR_028035.2:n.697A>G, NR_028034.4:n.367A>G, NR_028034.3:n.606A>G, NR_028034.2:n.634A>G, NR_135314.2:n.764A>G, NR_135314.1:n.907A>G, NR_135315.2:n.517A>G, NR_135315.1:n.660A>G, NM_001410956.1:c.643A>G, XM_006717819.4:c.679A>G, XM_006717819.3:c.679A>G, XM_006717819.2:c.679A>G, XM_006717819.1:c.679A>G, XM_011539767.4:c.643A>G, XM_011539764.3:c.760A>G, XM_011539764.2:c.760A>G, XM_011539764.1:c.760A>G, XM_011539766.3:c.679A>G, XM_011539766.2:c.679A>G, XM_011539766.1:c.679A>G, XM_011539765.3:c.697A>G, XM_011539765.2:c.697A>G, XM_011539765.1:c.697A>G, XM_047425178.1:c.580A>G, NM_152873.1:c.*39A>G, NM_152875.1:c.*27A>G, NM_152877.1:c.*39A>G, NM_152876.1:c.*27A>G, XM_047425179.1:c.*39A>G, XM_047425180.1:c.*27A>G, NP_000034.1:p.Arg200Gly, NP_690611.1:p.Arg200Gly, NP_690610.1:p.Arg179Gly, XP_006717882.1:p.Arg227Gly, XP_011538069.1:p.Arg215Gly, XP_011538066.1:p.Arg254Gly, XP_011538068.1:p.Arg227Gly, XP_011538067.1:p.Arg233Gly, XP_047281134.1:p.Arg194Gly

                                      19.

                                      rs1435894576 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        10:89008895 (GRCh38)
                                        10:90768652 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:89008894:A:T
                                        Gene:
                                        FAS (Varview)
                                        Functional Consequence:
                                        intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        T=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000010.11:g.89008895A>T, NC_000010.10:g.90768652A>T, NG_009089.2:g.23365A>T, NM_000043.6:c.341A>T, NM_000043.5:c.341A>T, NM_000043.4:c.341A>T, NM_152872.4:c.341A>T, NM_152872.3:c.341A>T, NM_152872.2:c.341A>T, NM_152871.4:c.341A>T, NM_152871.3:c.341A>T, NM_152871.2:c.341A>T, NR_135314.2:n.507A>T, NR_135314.1:n.650A>T, NM_001320619.2:c.341A>T, NM_001320619.1:c.341A>T, NM_001410956.1:c.386A>T, XM_006717819.4:c.422A>T, XM_006717819.3:c.422A>T, XM_006717819.2:c.422A>T, XM_006717819.1:c.422A>T, XM_011539767.4:c.386A>T, XM_011539764.3:c.503A>T, XM_011539764.2:c.503A>T, XM_011539764.1:c.503A>T, XM_011539766.3:c.422A>T, XM_011539766.2:c.422A>T, XM_011539766.1:c.422A>T, XM_011539765.3:c.503A>T, XM_011539765.2:c.503A>T, XM_011539765.1:c.503A>T, XM_047425178.1:c.386A>T, NP_000034.1:p.Glu114Val, NP_690611.1:p.Glu114Val, NP_690610.1:p.Glu114Val, NP_001307548.1:p.Glu114Val, XP_006717882.1:p.Glu141Val, XP_011538069.1:p.Glu129Val, XP_011538066.1:p.Glu168Val, XP_011538068.1:p.Glu141Val, XP_011538067.1:p.Glu168Val, XP_047281134.1:p.Glu129Val

                                        20.

                                        rs1430810569 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          10:89008966 (GRCh38)
                                          10:90768723 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:89008965:A:G
                                          Gene:
                                          FAS (Varview)
                                          Functional Consequence:
                                          missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.002013/9 (ALFA)
                                          G=0.000057/8 (GnomAD)
                                          G=0.002009/9 (Estonian)
                                          HGVS:
                                          NC_000010.11:g.89008966A>G, NC_000010.10:g.90768723A>G, NG_009089.2:g.23436A>G, NM_000043.6:c.412A>G, NM_000043.5:c.412A>G, NM_000043.4:c.412A>G, NM_152872.4:c.412A>G, NM_152872.3:c.412A>G, NM_152872.2:c.412A>G, NM_152871.4:c.412A>G, NM_152871.3:c.412A>G, NM_152871.2:c.412A>G, NR_135314.2:n.578A>G, NR_135314.1:n.721A>G, NM_001320619.2:c.412A>G, NM_001320619.1:c.412A>G, NM_001410956.1:c.457A>G, XM_006717819.4:c.493A>G, XM_006717819.3:c.493A>G, XM_006717819.2:c.493A>G, XM_006717819.1:c.493A>G, XM_011539767.4:c.457A>G, XM_011539764.3:c.574A>G, XM_011539764.2:c.574A>G, XM_011539764.1:c.574A>G, XM_011539766.3:c.493A>G, XM_011539766.2:c.493A>G, XM_011539766.1:c.493A>G, XM_011539765.3:c.574A>G, XM_011539765.2:c.574A>G, XM_011539765.1:c.574A>G, XM_047425178.1:c.457A>G, NP_000034.1:p.Thr138Ala, NP_690611.1:p.Thr138Ala, NP_690610.1:p.Thr138Ala, NP_001307548.1:p.Thr138Ala, XP_006717882.1:p.Thr165Ala, XP_011538069.1:p.Thr153Ala, XP_011538066.1:p.Thr192Ala, XP_011538068.1:p.Thr165Ala, XP_011538067.1:p.Thr192Ala, XP_047281134.1:p.Thr153Ala

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