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Items: 1 to 20 of 382

1.

rs1489600551 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    16:2206604 (GRCh38)
    16:2256605 (GRCh37)
    Canonical SPDI:
    NC_000016.10:2206603:G:A
    Gene:
    MLST8 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,missense_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000016.10:g.2206604G>A, NC_000016.9:g.2256605G>A, NM_022372.6:c.289G>A, NM_022372.5:c.289G>A, NM_022372.4:c.289G>A, XM_005255475.4:c.520G>A, XM_005255475.3:c.364G>A, XM_005255475.2:c.364G>A, XM_005255475.1:c.520G>A, NM_001199174.3:c.289G>A, NM_001199174.2:c.289G>A, NM_001199174.1:c.289G>A, NM_001199175.3:c.286G>A, NM_001199175.2:c.286G>A, NM_001199175.1:c.286G>A, XM_005255479.3:c.307G>A, XM_005255479.2:c.307G>A, XM_005255479.1:c.307G>A, NM_001199173.3:c.289G>A, NM_001199173.2:c.289G>A, NM_001199173.1:c.289G>A, NR_147905.2:n.403G>A, NR_147905.1:n.680G>A, NR_147904.2:n.373G>A, NR_147904.1:n.650G>A, NR_147907.2:n.736G>A, NR_147907.1:n.465G>A, NM_001352059.2:c.91G>A, NM_001352059.1:c.91G>A, NM_001352060.2:c.91G>A, NM_001352060.1:c.91G>A, NM_001352057.2:c.307G>A, NM_001352057.1:c.307G>A, NR_147906.2:n.403G>A, NR_147906.1:n.680G>A, XM_047434466.1:c.502G>A, XM_047434467.1:c.520G>A, NP_071767.3:p.Gly97Ser, XP_005255532.3:p.Gly174Ser, NP_001186103.1:p.Gly97Ser, NP_001186104.1:p.Gly96Ser, XP_005255536.1:p.Gly103Ser, NP_001186102.1:p.Gly97Ser, NP_001338988.1:p.Gly31Ser, NP_001338989.1:p.Gly31Ser, NP_001338986.1:p.Gly103Ser, XP_047290422.1:p.Gly168Ser, XP_047290423.1:p.Gly174Ser

    2.

    rs1485435240 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->A [Show Flanks]
      Chromosome:
      16:2208856 (GRCh38)
      16:2258858 (GRCh37)
      Canonical SPDI:
      NC_000016.10:2208856:AA:AAA
      Gene:
      MLST8 (Varview), BRICD5 (Varview)
      Functional Consequence:
      frameshift_variant,500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAA=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000016.10:g.2208858dup, NC_000016.9:g.2258859dup, NM_022372.6:c.962dup, NM_022372.5:c.962dup, NM_022372.4:c.962dup, XM_005255475.4:c.1193dup, XM_005255475.3:c.1037dup, XM_005255475.2:c.1037dup, XM_005255475.1:c.1193dup, NM_001199174.3:c.962dup, NM_001199174.2:c.962dup, NM_001199174.1:c.962dup, NM_001199175.3:c.959dup, NM_001199175.2:c.959dup, NM_001199175.1:c.959dup, XM_005255479.3:c.980dup, XM_005255479.2:c.980dup, XM_005255479.1:c.980dup, NM_001199173.3:c.962dup, NM_001199173.2:c.962dup, NM_001199173.1:c.962dup, NR_147905.2:n.1755dup, NR_147905.1:n.2032dup, NR_147904.2:n.1725dup, NR_147904.1:n.2002dup, NR_147907.2:n.1284dup, NR_147907.1:n.1013dup, NM_001352059.2:c.764dup, NM_001352059.1:c.764dup, NM_001352060.2:c.764dup, NM_001352060.1:c.764dup, NM_001352057.2:c.980dup, NM_001352057.1:c.980dup, NR_147906.2:n.951dup, NR_147906.1:n.1228dup, XM_047434466.1:c.1175dup, NP_071767.3:p.Asn321fs, XP_005255532.3:p.Asn398fs, NP_001186103.1:p.Asn321fs, NP_001186104.1:p.Asn320fs, XP_005255536.1:p.Asn327fs, NP_001186102.1:p.Asn321fs, NP_001338988.1:p.Asn255fs, NP_001338989.1:p.Asn255fs, NP_001338986.1:p.Asn327fs, XP_047290422.1:p.Asn392fs

      3.

      rs1484032853 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        16:2208534 (GRCh38)
        16:2258535 (GRCh37)
        Canonical SPDI:
        NC_000016.10:2208533:G:C
        Gene:
        MLST8 (Varview)
        Functional Consequence:
        coding_sequence_variant,3_prime_UTR_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0.000028/1 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        NC_000016.10:g.2208534G>C, NC_000016.9:g.2258535G>C, NM_022372.6:c.783G>C, NM_022372.5:c.783G>C, NM_022372.4:c.783G>C, XM_005255475.4:c.1014G>C, XM_005255475.3:c.858G>C, XM_005255475.2:c.858G>C, XM_005255475.1:c.1014G>C, NM_001199174.3:c.783G>C, NM_001199174.2:c.783G>C, NM_001199174.1:c.783G>C, NM_001199175.3:c.780G>C, NM_001199175.2:c.780G>C, NM_001199175.1:c.780G>C, XM_005255479.3:c.801G>C, XM_005255479.2:c.801G>C, XM_005255479.1:c.801G>C, NM_001199173.3:c.783G>C, NM_001199173.2:c.783G>C, NM_001199173.1:c.783G>C, NR_147905.2:n.1576G>C, NR_147905.1:n.1853G>C, NR_147904.2:n.1546G>C, NR_147904.1:n.1823G>C, NR_147907.2:n.1105G>C, NR_147907.1:n.834G>C, NM_001352059.2:c.585G>C, NM_001352059.1:c.585G>C, NM_001352060.2:c.585G>C, NM_001352060.1:c.585G>C, NM_001352057.2:c.801G>C, NM_001352057.1:c.801G>C, NR_147906.2:n.772G>C, NR_147906.1:n.1049G>C, XM_047434466.1:c.996G>C, XM_047434467.1:c.*61G>C, NP_071767.3:p.Lys261Asn, XP_005255532.3:p.Lys338Asn, NP_001186103.1:p.Lys261Asn, NP_001186104.1:p.Lys260Asn, XP_005255536.1:p.Lys267Asn, NP_001186102.1:p.Lys261Asn, NP_001338988.1:p.Lys195Asn, NP_001338989.1:p.Lys195Asn, NP_001338986.1:p.Lys267Asn, XP_047290422.1:p.Lys332Asn

        4.

        rs1478567672 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          16:2207307 (GRCh38)
          16:2257308 (GRCh37)
          Canonical SPDI:
          NC_000016.10:2207306:G:C
          Gene:
          MLST8 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000071/1 (ALFA)
          C=0.000004/1 (GnomAD_exomes)
          C=0.000004/1 (TOPMED)
          HGVS:
          NC_000016.10:g.2207307G>C, NC_000016.9:g.2257308G>C, NM_022372.6:c.535G>C, NM_022372.5:c.535G>C, NM_022372.4:c.535G>C, XM_005255475.4:c.766G>C, XM_005255475.3:c.610G>C, XM_005255475.2:c.610G>C, XM_005255475.1:c.766G>C, NM_001199174.3:c.535G>C, NM_001199174.2:c.535G>C, NM_001199174.1:c.535G>C, NM_001199175.3:c.532G>C, NM_001199175.2:c.532G>C, NM_001199175.1:c.532G>C, XM_005255479.3:c.553G>C, XM_005255479.2:c.553G>C, XM_005255479.1:c.553G>C, NM_001199173.3:c.535G>C, NM_001199173.2:c.535G>C, NM_001199173.1:c.535G>C, NR_147905.2:n.649G>C, NR_147905.1:n.926G>C, NR_147904.2:n.619G>C, NR_147904.1:n.896G>C, NR_147907.2:n.982G>C, NR_147907.1:n.711G>C, NM_001352059.2:c.337G>C, NM_001352059.1:c.337G>C, NM_001352060.2:c.337G>C, NM_001352060.1:c.337G>C, NM_001352057.2:c.553G>C, NM_001352057.1:c.553G>C, NR_147906.2:n.649G>C, NR_147906.1:n.926G>C, XM_047434466.1:c.748G>C, XM_047434467.1:c.766G>C, NP_071767.3:p.Asp179His, XP_005255532.3:p.Asp256His, NP_001186103.1:p.Asp179His, NP_001186104.1:p.Asp178His, XP_005255536.1:p.Asp185His, NP_001186102.1:p.Asp179His, NP_001338988.1:p.Asp113His, NP_001338989.1:p.Asp113His, NP_001338986.1:p.Asp185His, XP_047290422.1:p.Asp250His, XP_047290423.1:p.Asp256His

          5.

          rs1477112386 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            16:2208539 (GRCh38)
            16:2258540 (GRCh37)
            Canonical SPDI:
            NC_000016.10:2208538:G:A
            Gene:
            MLST8 (Varview)
            Functional Consequence:
            coding_sequence_variant,3_prime_UTR_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000016.10:g.2208539G>A, NC_000016.9:g.2258540G>A, NM_022372.6:c.788G>A, NM_022372.5:c.788G>A, NM_022372.4:c.788G>A, XM_005255475.4:c.1019G>A, XM_005255475.3:c.863G>A, XM_005255475.2:c.863G>A, XM_005255475.1:c.1019G>A, NM_001199174.3:c.788G>A, NM_001199174.2:c.788G>A, NM_001199174.1:c.788G>A, NM_001199175.3:c.785G>A, NM_001199175.2:c.785G>A, NM_001199175.1:c.785G>A, XM_005255479.3:c.806G>A, XM_005255479.2:c.806G>A, XM_005255479.1:c.806G>A, NM_001199173.3:c.788G>A, NM_001199173.2:c.788G>A, NM_001199173.1:c.788G>A, NR_147905.2:n.1581G>A, NR_147905.1:n.1858G>A, NR_147904.2:n.1551G>A, NR_147904.1:n.1828G>A, NR_147907.2:n.1110G>A, NR_147907.1:n.839G>A, NM_001352059.2:c.590G>A, NM_001352059.1:c.590G>A, NM_001352060.2:c.590G>A, NM_001352060.1:c.590G>A, NM_001352057.2:c.806G>A, NM_001352057.1:c.806G>A, NR_147906.2:n.777G>A, NR_147906.1:n.1054G>A, XM_047434466.1:c.1001G>A, XM_047434467.1:c.*66G>A, NP_071767.3:p.Gly263Asp, XP_005255532.3:p.Gly340Asp, NP_001186103.1:p.Gly263Asp, NP_001186104.1:p.Gly262Asp, XP_005255536.1:p.Gly269Asp, NP_001186102.1:p.Gly263Asp, NP_001338988.1:p.Gly197Asp, NP_001338989.1:p.Gly197Asp, NP_001338986.1:p.Gly269Asp, XP_047290422.1:p.Gly334Asp

            6.

            rs1469800868 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              16:2207237 (GRCh38)
              16:2257238 (GRCh37)
              Canonical SPDI:
              NC_000016.10:2207236:G:A,NC_000016.10:2207236:G:T
              Gene:
              MLST8 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,stop_gained,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000016.10:g.2207237G>A, NC_000016.10:g.2207237G>T, NC_000016.9:g.2257238G>A, NC_000016.9:g.2257238G>T, NM_022372.6:c.465G>A, NM_022372.6:c.465G>T, NM_022372.5:c.465G>A, NM_022372.5:c.465G>T, NM_022372.4:c.465G>A, NM_022372.4:c.465G>T, XM_005255475.4:c.696G>A, XM_005255475.4:c.696G>T, XM_005255475.3:c.540G>A, XM_005255475.3:c.540G>T, XM_005255475.2:c.540G>A, XM_005255475.2:c.540G>T, XM_005255475.1:c.696G>A, XM_005255475.1:c.696G>T, NM_001199174.3:c.465G>A, NM_001199174.3:c.465G>T, NM_001199174.2:c.465G>A, NM_001199174.2:c.465G>T, NM_001199174.1:c.465G>A, NM_001199174.1:c.465G>T, NM_001199175.3:c.462G>A, NM_001199175.3:c.462G>T, NM_001199175.2:c.462G>A, NM_001199175.2:c.462G>T, NM_001199175.1:c.462G>A, NM_001199175.1:c.462G>T, XM_005255479.3:c.483G>A, XM_005255479.3:c.483G>T, XM_005255479.2:c.483G>A, XM_005255479.2:c.483G>T, XM_005255479.1:c.483G>A, XM_005255479.1:c.483G>T, NM_001199173.3:c.465G>A, NM_001199173.3:c.465G>T, NM_001199173.2:c.465G>A, NM_001199173.2:c.465G>T, NM_001199173.1:c.465G>A, NM_001199173.1:c.465G>T, NR_147905.2:n.579G>A, NR_147905.2:n.579G>T, NR_147905.1:n.856G>A, NR_147905.1:n.856G>T, NR_147904.2:n.549G>A, NR_147904.2:n.549G>T, NR_147904.1:n.826G>A, NR_147904.1:n.826G>T, NR_147907.2:n.912G>A, NR_147907.2:n.912G>T, NR_147907.1:n.641G>A, NR_147907.1:n.641G>T, NM_001352059.2:c.267G>A, NM_001352059.2:c.267G>T, NM_001352059.1:c.267G>A, NM_001352059.1:c.267G>T, NM_001352060.2:c.267G>A, NM_001352060.2:c.267G>T, NM_001352060.1:c.267G>A, NM_001352060.1:c.267G>T, NM_001352057.2:c.483G>A, NM_001352057.2:c.483G>T, NM_001352057.1:c.483G>A, NM_001352057.1:c.483G>T, NR_147906.2:n.579G>A, NR_147906.2:n.579G>T, NR_147906.1:n.856G>A, NR_147906.1:n.856G>T, XM_047434466.1:c.678G>A, XM_047434466.1:c.678G>T, XM_047434467.1:c.696G>A, XM_047434467.1:c.696G>T, NP_071767.3:p.Trp155Ter, NP_071767.3:p.Trp155Cys, XP_005255532.3:p.Trp232Ter, XP_005255532.3:p.Trp232Cys, NP_001186103.1:p.Trp155Ter, NP_001186103.1:p.Trp155Cys, NP_001186104.1:p.Trp154Ter, NP_001186104.1:p.Trp154Cys, XP_005255536.1:p.Trp161Ter, XP_005255536.1:p.Trp161Cys, NP_001186102.1:p.Trp155Ter, NP_001186102.1:p.Trp155Cys, NP_001338988.1:p.Trp89Ter, NP_001338988.1:p.Trp89Cys, NP_001338989.1:p.Trp89Ter, NP_001338989.1:p.Trp89Cys, NP_001338986.1:p.Trp161Ter, NP_001338986.1:p.Trp161Cys, XP_047290422.1:p.Trp226Ter, XP_047290422.1:p.Trp226Cys, XP_047290423.1:p.Trp232Ter, XP_047290423.1:p.Trp232Cys

              7.

              rs1469631619 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                16:2206626 (GRCh38)
                16:2256627 (GRCh37)
                Canonical SPDI:
                NC_000016.10:2206625:G:A,NC_000016.10:2206625:G:T
                Gene:
                MLST8 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000016.10:g.2206626G>A, NC_000016.10:g.2206626G>T, NC_000016.9:g.2256627G>A, NC_000016.9:g.2256627G>T, NM_022372.6:c.311G>A, NM_022372.6:c.311G>T, NM_022372.5:c.311G>A, NM_022372.5:c.311G>T, NM_022372.4:c.311G>A, NM_022372.4:c.311G>T, XM_005255475.4:c.542G>A, XM_005255475.4:c.542G>T, XM_005255475.3:c.386G>A, XM_005255475.3:c.386G>T, XM_005255475.2:c.386G>A, XM_005255475.2:c.386G>T, XM_005255475.1:c.542G>A, XM_005255475.1:c.542G>T, NM_001199174.3:c.311G>A, NM_001199174.3:c.311G>T, NM_001199174.2:c.311G>A, NM_001199174.2:c.311G>T, NM_001199174.1:c.311G>A, NM_001199174.1:c.311G>T, NM_001199175.3:c.308G>A, NM_001199175.3:c.308G>T, NM_001199175.2:c.308G>A, NM_001199175.2:c.308G>T, NM_001199175.1:c.308G>A, NM_001199175.1:c.308G>T, XM_005255479.3:c.329G>A, XM_005255479.3:c.329G>T, XM_005255479.2:c.329G>A, XM_005255479.2:c.329G>T, XM_005255479.1:c.329G>A, XM_005255479.1:c.329G>T, NM_001199173.3:c.311G>A, NM_001199173.3:c.311G>T, NM_001199173.2:c.311G>A, NM_001199173.2:c.311G>T, NM_001199173.1:c.311G>A, NM_001199173.1:c.311G>T, NR_147905.2:n.425G>A, NR_147905.2:n.425G>T, NR_147905.1:n.702G>A, NR_147905.1:n.702G>T, NR_147904.2:n.395G>A, NR_147904.2:n.395G>T, NR_147904.1:n.672G>A, NR_147904.1:n.672G>T, NR_147907.2:n.758G>A, NR_147907.2:n.758G>T, NR_147907.1:n.487G>A, NR_147907.1:n.487G>T, NM_001352059.2:c.113G>A, NM_001352059.2:c.113G>T, NM_001352059.1:c.113G>A, NM_001352059.1:c.113G>T, NM_001352060.2:c.113G>A, NM_001352060.2:c.113G>T, NM_001352060.1:c.113G>A, NM_001352060.1:c.113G>T, NM_001352057.2:c.329G>A, NM_001352057.2:c.329G>T, NM_001352057.1:c.329G>A, NM_001352057.1:c.329G>T, NR_147906.2:n.425G>A, NR_147906.2:n.425G>T, NR_147906.1:n.702G>A, NR_147906.1:n.702G>T, XM_047434466.1:c.524G>A, XM_047434466.1:c.524G>T, XM_047434467.1:c.542G>A, XM_047434467.1:c.542G>T, NP_071767.3:p.Gly104Asp, NP_071767.3:p.Gly104Val, XP_005255532.3:p.Gly181Asp, XP_005255532.3:p.Gly181Val, NP_001186103.1:p.Gly104Asp, NP_001186103.1:p.Gly104Val, NP_001186104.1:p.Gly103Asp, NP_001186104.1:p.Gly103Val, XP_005255536.1:p.Gly110Asp, XP_005255536.1:p.Gly110Val, NP_001186102.1:p.Gly104Asp, NP_001186102.1:p.Gly104Val, NP_001338988.1:p.Gly38Asp, NP_001338988.1:p.Gly38Val, NP_001338989.1:p.Gly38Asp, NP_001338989.1:p.Gly38Val, NP_001338986.1:p.Gly110Asp, NP_001338986.1:p.Gly110Val, XP_047290422.1:p.Gly175Asp, XP_047290422.1:p.Gly175Val, XP_047290423.1:p.Gly181Asp, XP_047290423.1:p.Gly181Val

                8.

                rs1468384133 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  16:2208846 (GRCh38)
                  16:2258847 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:2208845:G:C
                  Gene:
                  MLST8 (Varview), BRICD5 (Varview)
                  Functional Consequence:
                  500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000016.10:g.2208846G>C, NC_000016.9:g.2258847G>C, NM_022372.6:c.950G>C, NM_022372.5:c.950G>C, NM_022372.4:c.950G>C, XM_005255475.4:c.1181G>C, XM_005255475.3:c.1025G>C, XM_005255475.2:c.1025G>C, XM_005255475.1:c.1181G>C, NM_001199174.3:c.950G>C, NM_001199174.2:c.950G>C, NM_001199174.1:c.950G>C, NM_001199175.3:c.947G>C, NM_001199175.2:c.947G>C, NM_001199175.1:c.947G>C, XM_005255479.3:c.968G>C, XM_005255479.2:c.968G>C, XM_005255479.1:c.968G>C, NM_001199173.3:c.950G>C, NM_001199173.2:c.950G>C, NM_001199173.1:c.950G>C, NR_147905.2:n.1743G>C, NR_147905.1:n.2020G>C, NR_147904.2:n.1713G>C, NR_147904.1:n.1990G>C, NR_147907.2:n.1272G>C, NR_147907.1:n.1001G>C, NM_001352059.2:c.752G>C, NM_001352059.1:c.752G>C, NM_001352060.2:c.752G>C, NM_001352060.1:c.752G>C, NM_001352057.2:c.968G>C, NM_001352057.1:c.968G>C, NR_147906.2:n.939G>C, NR_147906.1:n.1216G>C, XM_047434466.1:c.1163G>C, NP_071767.3:p.Cys317Ser, XP_005255532.3:p.Cys394Ser, NP_001186103.1:p.Cys317Ser, NP_001186104.1:p.Cys316Ser, XP_005255536.1:p.Cys323Ser, NP_001186102.1:p.Cys317Ser, NP_001338988.1:p.Cys251Ser, NP_001338989.1:p.Cys251Ser, NP_001338986.1:p.Cys323Ser, XP_047290422.1:p.Cys388Ser

                  9.

                  rs1467513600 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    16:2208334 (GRCh38)
                    16:2258335 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:2208333:C:T
                    Gene:
                    MLST8 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    NC_000016.10:g.2208334C>T, NC_000016.9:g.2258335C>T, NM_022372.6:c.698C>T, NM_022372.5:c.698C>T, NM_022372.4:c.698C>T, XM_005255475.4:c.929C>T, XM_005255475.3:c.773C>T, XM_005255475.2:c.773C>T, XM_005255475.1:c.929C>T, NM_001199174.3:c.698C>T, NM_001199174.2:c.698C>T, NM_001199174.1:c.698C>T, NM_001199175.3:c.695C>T, NM_001199175.2:c.695C>T, NM_001199175.1:c.695C>T, XM_005255479.3:c.716C>T, XM_005255479.2:c.716C>T, XM_005255479.1:c.716C>T, NM_001199173.3:c.698C>T, NM_001199173.2:c.698C>T, NM_001199173.1:c.698C>T, NR_147905.2:n.1491C>T, NR_147905.1:n.1768C>T, NR_147904.2:n.1461C>T, NR_147904.1:n.1738C>T, NM_001352059.2:c.500C>T, NM_001352059.1:c.500C>T, NM_001352060.2:c.500C>T, NM_001352060.1:c.500C>T, NM_001352057.2:c.716C>T, NM_001352057.1:c.716C>T, XM_047434466.1:c.911C>T, NP_071767.3:p.Thr233Met, XP_005255532.3:p.Thr310Met, NP_001186103.1:p.Thr233Met, NP_001186104.1:p.Thr232Met, XP_005255536.1:p.Thr239Met, NP_001186102.1:p.Thr233Met, NP_001338988.1:p.Thr167Met, NP_001338989.1:p.Thr167Met, NP_001338986.1:p.Thr239Met, XP_047290422.1:p.Thr304Met

                    10.

                    rs1467064071 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      16:2206544 (GRCh38)
                      16:2256545 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:2206543:C:T
                      Gene:
                      MLST8 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000016.10:g.2206544C>T, NC_000016.9:g.2256545C>T, NM_022372.6:c.229C>T, NM_022372.5:c.229C>T, NM_022372.4:c.229C>T, XM_005255475.4:c.460C>T, XM_005255475.3:c.304C>T, XM_005255475.2:c.304C>T, XM_005255475.1:c.460C>T, NM_001199174.3:c.229C>T, NM_001199174.2:c.229C>T, NM_001199174.1:c.229C>T, NM_001199175.3:c.226C>T, NM_001199175.2:c.226C>T, NM_001199175.1:c.226C>T, XM_005255479.3:c.247C>T, XM_005255479.2:c.247C>T, XM_005255479.1:c.247C>T, NM_001199173.3:c.229C>T, NM_001199173.2:c.229C>T, NM_001199173.1:c.229C>T, NR_147905.2:n.343C>T, NR_147905.1:n.620C>T, NR_147904.2:n.313C>T, NR_147904.1:n.590C>T, NR_147907.2:n.676C>T, NR_147907.1:n.405C>T, NM_001352059.2:c.31C>T, NM_001352059.1:c.31C>T, NM_001352060.2:c.31C>T, NM_001352060.1:c.31C>T, NM_001352057.2:c.247C>T, NM_001352057.1:c.247C>T, NR_147906.2:n.343C>T, NR_147906.1:n.620C>T, XM_047434466.1:c.442C>T, XM_047434467.1:c.460C>T, NP_071767.3:p.Pro77Ser, XP_005255532.3:p.Pro154Ser, NP_001186103.1:p.Pro77Ser, NP_001186104.1:p.Pro76Ser, XP_005255536.1:p.Pro83Ser, NP_001186102.1:p.Pro77Ser, NP_001338988.1:p.Pro11Ser, NP_001338989.1:p.Pro11Ser, NP_001338986.1:p.Pro83Ser, XP_047290422.1:p.Pro148Ser, XP_047290423.1:p.Pro154Ser

                      11.

                      rs1462582427 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        16:2206106 (GRCh38)
                        16:2256107 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:2206105:G:C
                        Gene:
                        MLST8 (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000008/2 (GnomAD_exomes)
                        C=0.000014/2 (GnomAD)
                        C=0.000023/6 (TOPMED)
                        HGVS:
                        NC_000016.10:g.2206106G>C, NC_000016.9:g.2256107G>C, NM_022372.6:c.21G>C, NM_022372.5:c.21G>C, NM_022372.4:c.21G>C, XM_005255475.4:c.234G>C, XM_005255475.3:c.78G>C, XM_005255475.2:c.78G>C, XM_005255475.1:c.234G>C, NM_001199174.3:c.21G>C, NM_001199174.2:c.21G>C, NM_001199174.1:c.21G>C, NM_001199175.3:c.21G>C, NM_001199175.2:c.21G>C, NM_001199175.1:c.21G>C, XM_005255479.3:c.21G>C, XM_005255479.2:c.21G>C, XM_005255479.1:c.21G>C, NM_001199173.3:c.21G>C, NM_001199173.2:c.21G>C, NM_001199173.1:c.21G>C, NR_147905.2:n.135G>C, NR_147905.1:n.412G>C, NR_147904.2:n.105G>C, NR_147904.1:n.382G>C, NR_147907.2:n.468G>C, NR_147907.1:n.197G>C, NM_001352059.2:c.-265G>C, NM_001352059.1:c.-265G>C, NM_001352060.2:c.-265G>C, NM_001352060.1:c.-265G>C, NM_001352057.2:c.21G>C, NM_001352057.1:c.21G>C, NR_147906.2:n.135G>C, NR_147906.1:n.412G>C, XM_047434466.1:c.234G>C, XM_047434467.1:c.234G>C

                        12.

                        rs1462285737 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          16:2207068 (GRCh38)
                          16:2257069 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:2207067:G:A,NC_000016.10:2207067:G:T
                          Gene:
                          MLST8 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000016.10:g.2207068G>A, NC_000016.10:g.2207068G>T, NC_000016.9:g.2257069G>A, NC_000016.9:g.2257069G>T, NM_022372.6:c.378G>A, NM_022372.6:c.378G>T, NM_022372.5:c.378G>A, NM_022372.5:c.378G>T, NM_022372.4:c.378G>A, NM_022372.4:c.378G>T, XM_005255475.4:c.609G>A, XM_005255475.4:c.609G>T, XM_005255475.3:c.453G>A, XM_005255475.3:c.453G>T, XM_005255475.2:c.453G>A, XM_005255475.2:c.453G>T, XM_005255475.1:c.609G>A, XM_005255475.1:c.609G>T, NM_001199174.3:c.378G>A, NM_001199174.3:c.378G>T, NM_001199174.2:c.378G>A, NM_001199174.2:c.378G>T, NM_001199174.1:c.378G>A, NM_001199174.1:c.378G>T, NM_001199175.3:c.375G>A, NM_001199175.3:c.375G>T, NM_001199175.2:c.375G>A, NM_001199175.2:c.375G>T, NM_001199175.1:c.375G>A, NM_001199175.1:c.375G>T, XM_005255479.3:c.396G>A, XM_005255479.3:c.396G>T, XM_005255479.2:c.396G>A, XM_005255479.2:c.396G>T, XM_005255479.1:c.396G>A, XM_005255479.1:c.396G>T, NM_001199173.3:c.378G>A, NM_001199173.3:c.378G>T, NM_001199173.2:c.378G>A, NM_001199173.2:c.378G>T, NM_001199173.1:c.378G>A, NM_001199173.1:c.378G>T, NR_147905.2:n.492G>A, NR_147905.2:n.492G>T, NR_147905.1:n.769G>A, NR_147905.1:n.769G>T, NR_147904.2:n.462G>A, NR_147904.2:n.462G>T, NR_147904.1:n.739G>A, NR_147904.1:n.739G>T, NR_147907.2:n.825G>A, NR_147907.2:n.825G>T, NR_147907.1:n.554G>A, NR_147907.1:n.554G>T, NM_001352059.2:c.180G>A, NM_001352059.2:c.180G>T, NM_001352059.1:c.180G>A, NM_001352059.1:c.180G>T, NM_001352060.2:c.180G>A, NM_001352060.2:c.180G>T, NM_001352060.1:c.180G>A, NM_001352060.1:c.180G>T, NM_001352057.2:c.396G>A, NM_001352057.2:c.396G>T, NM_001352057.1:c.396G>A, NM_001352057.1:c.396G>T, NR_147906.2:n.492G>A, NR_147906.2:n.492G>T, NR_147906.1:n.769G>A, NR_147906.1:n.769G>T, XM_047434466.1:c.591G>A, XM_047434466.1:c.591G>T, XM_047434467.1:c.609G>A, XM_047434467.1:c.609G>T, NP_071767.3:p.Gln126His, XP_005255532.3:p.Gln203His, NP_001186103.1:p.Gln126His, NP_001186104.1:p.Gln125His, XP_005255536.1:p.Gln132His, NP_001186102.1:p.Gln126His, NP_001338988.1:p.Gln60His, NP_001338989.1:p.Gln60His, NP_001338986.1:p.Gln132His, XP_047290422.1:p.Gln197His, XP_047290423.1:p.Gln203His

                          13.

                          rs1454842564 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            16:2208600 (GRCh38)
                            16:2258601 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:2208599:G:A
                            Gene:
                            MLST8 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            A=0.000007/1 (GnomAD)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000016.10:g.2208600G>A, NC_000016.9:g.2258601G>A, NM_022372.6:c.849G>A, NM_022372.5:c.849G>A, NM_022372.4:c.849G>A, XM_005255475.4:c.1080G>A, XM_005255475.3:c.924G>A, XM_005255475.2:c.924G>A, XM_005255475.1:c.1080G>A, NM_001199174.3:c.849G>A, NM_001199174.2:c.849G>A, NM_001199174.1:c.849G>A, NM_001199175.3:c.846G>A, NM_001199175.2:c.846G>A, NM_001199175.1:c.846G>A, XM_005255479.3:c.867G>A, XM_005255479.2:c.867G>A, XM_005255479.1:c.867G>A, NM_001199173.3:c.849G>A, NM_001199173.2:c.849G>A, NM_001199173.1:c.849G>A, NR_147905.2:n.1642G>A, NR_147905.1:n.1919G>A, NR_147904.2:n.1612G>A, NR_147904.1:n.1889G>A, NR_147907.2:n.1171G>A, NR_147907.1:n.900G>A, NM_001352059.2:c.651G>A, NM_001352059.1:c.651G>A, NM_001352060.2:c.651G>A, NM_001352060.1:c.651G>A, NM_001352057.2:c.867G>A, NM_001352057.1:c.867G>A, NR_147906.2:n.838G>A, NR_147906.1:n.1115G>A, XM_047434466.1:c.1062G>A, XM_047434467.1:c.*127G>A

                            14.

                            rs1454579895 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              16:2206121 (GRCh38)
                              16:2256122 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:2206120:G:A
                              Gene:
                              MLST8 (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000008/2 (TOPMED)
                              A=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000016.10:g.2206121G>A, NC_000016.9:g.2256122G>A, NM_022372.6:c.36G>A, NM_022372.5:c.36G>A, NM_022372.4:c.36G>A, XM_005255475.4:c.249G>A, XM_005255475.3:c.93G>A, XM_005255475.2:c.93G>A, XM_005255475.1:c.249G>A, NM_001199174.3:c.36G>A, NM_001199174.2:c.36G>A, NM_001199174.1:c.36G>A, NM_001199175.3:c.36G>A, NM_001199175.2:c.36G>A, NM_001199175.1:c.36G>A, XM_005255479.3:c.36G>A, XM_005255479.2:c.36G>A, XM_005255479.1:c.36G>A, NM_001199173.3:c.36G>A, NM_001199173.2:c.36G>A, NM_001199173.1:c.36G>A, NR_147905.2:n.150G>A, NR_147905.1:n.427G>A, NR_147904.2:n.120G>A, NR_147904.1:n.397G>A, NR_147907.2:n.483G>A, NR_147907.1:n.212G>A, NM_001352059.2:c.-250G>A, NM_001352059.1:c.-250G>A, NM_001352060.2:c.-250G>A, NM_001352060.1:c.-250G>A, NM_001352057.2:c.36G>A, NM_001352057.1:c.36G>A, NR_147906.2:n.150G>A, NR_147906.1:n.427G>A, XM_047434466.1:c.249G>A, XM_047434467.1:c.249G>A

                              15.

                              rs1451606255 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                16:2208592 (GRCh38)
                                16:2258593 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:2208591:G:A,NC_000016.10:2208591:G:C
                                Gene:
                                MLST8 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000016.10:g.2208592G>A, NC_000016.10:g.2208592G>C, NC_000016.9:g.2258593G>A, NC_000016.9:g.2258593G>C, NM_022372.6:c.841G>A, NM_022372.6:c.841G>C, NM_022372.5:c.841G>A, NM_022372.5:c.841G>C, NM_022372.4:c.841G>A, NM_022372.4:c.841G>C, XM_005255475.4:c.1072G>A, XM_005255475.4:c.1072G>C, XM_005255475.3:c.916G>A, XM_005255475.3:c.916G>C, XM_005255475.2:c.916G>A, XM_005255475.2:c.916G>C, XM_005255475.1:c.1072G>A, XM_005255475.1:c.1072G>C, NM_001199174.3:c.841G>A, NM_001199174.3:c.841G>C, NM_001199174.2:c.841G>A, NM_001199174.2:c.841G>C, NM_001199174.1:c.841G>A, NM_001199174.1:c.841G>C, NM_001199175.3:c.838G>A, NM_001199175.3:c.838G>C, NM_001199175.2:c.838G>A, NM_001199175.2:c.838G>C, NM_001199175.1:c.838G>A, NM_001199175.1:c.838G>C, XM_005255479.3:c.859G>A, XM_005255479.3:c.859G>C, XM_005255479.2:c.859G>A, XM_005255479.2:c.859G>C, XM_005255479.1:c.859G>A, XM_005255479.1:c.859G>C, NM_001199173.3:c.841G>A, NM_001199173.3:c.841G>C, NM_001199173.2:c.841G>A, NM_001199173.2:c.841G>C, NM_001199173.1:c.841G>A, NM_001199173.1:c.841G>C, NR_147905.2:n.1634G>A, NR_147905.2:n.1634G>C, NR_147905.1:n.1911G>A, NR_147905.1:n.1911G>C, NR_147904.2:n.1604G>A, NR_147904.2:n.1604G>C, NR_147904.1:n.1881G>A, NR_147904.1:n.1881G>C, NR_147907.2:n.1163G>A, NR_147907.2:n.1163G>C, NR_147907.1:n.892G>A, NR_147907.1:n.892G>C, NM_001352059.2:c.643G>A, NM_001352059.2:c.643G>C, NM_001352059.1:c.643G>A, NM_001352059.1:c.643G>C, NM_001352060.2:c.643G>A, NM_001352060.2:c.643G>C, NM_001352060.1:c.643G>A, NM_001352060.1:c.643G>C, NM_001352057.2:c.859G>A, NM_001352057.2:c.859G>C, NM_001352057.1:c.859G>A, NM_001352057.1:c.859G>C, NR_147906.2:n.830G>A, NR_147906.2:n.830G>C, NR_147906.1:n.1107G>A, NR_147906.1:n.1107G>C, XM_047434466.1:c.1054G>A, XM_047434466.1:c.1054G>C, XM_047434467.1:c.*119G>A, XM_047434467.1:c.*119G>C, NP_071767.3:p.Asp281Asn, NP_071767.3:p.Asp281His, XP_005255532.3:p.Asp358Asn, XP_005255532.3:p.Asp358His, NP_001186103.1:p.Asp281Asn, NP_001186103.1:p.Asp281His, NP_001186104.1:p.Asp280Asn, NP_001186104.1:p.Asp280His, XP_005255536.1:p.Asp287Asn, XP_005255536.1:p.Asp287His, NP_001186102.1:p.Asp281Asn, NP_001186102.1:p.Asp281His, NP_001338988.1:p.Asp215Asn, NP_001338988.1:p.Asp215His, NP_001338989.1:p.Asp215Asn, NP_001338989.1:p.Asp215His, NP_001338986.1:p.Asp287Asn, NP_001338986.1:p.Asp287His, XP_047290422.1:p.Asp352Asn, XP_047290422.1:p.Asp352His

                                16.

                                rs1447669253 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  16:2208573 (GRCh38)
                                  16:2258574 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:2208572:G:A,NC_000016.10:2208572:G:T
                                  Gene:
                                  MLST8 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,stop_gained,3_prime_UTR_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  NC_000016.10:g.2208573G>A, NC_000016.10:g.2208573G>T, NC_000016.9:g.2258574G>A, NC_000016.9:g.2258574G>T, NM_022372.6:c.822G>A, NM_022372.6:c.822G>T, NM_022372.5:c.822G>A, NM_022372.5:c.822G>T, NM_022372.4:c.822G>A, NM_022372.4:c.822G>T, XM_005255475.4:c.1053G>A, XM_005255475.4:c.1053G>T, XM_005255475.3:c.897G>A, XM_005255475.3:c.897G>T, XM_005255475.2:c.897G>A, XM_005255475.2:c.897G>T, XM_005255475.1:c.1053G>A, XM_005255475.1:c.1053G>T, NM_001199174.3:c.822G>A, NM_001199174.3:c.822G>T, NM_001199174.2:c.822G>A, NM_001199174.2:c.822G>T, NM_001199174.1:c.822G>A, NM_001199174.1:c.822G>T, NM_001199175.3:c.819G>A, NM_001199175.3:c.819G>T, NM_001199175.2:c.819G>A, NM_001199175.2:c.819G>T, NM_001199175.1:c.819G>A, NM_001199175.1:c.819G>T, XM_005255479.3:c.840G>A, XM_005255479.3:c.840G>T, XM_005255479.2:c.840G>A, XM_005255479.2:c.840G>T, XM_005255479.1:c.840G>A, XM_005255479.1:c.840G>T, NM_001199173.3:c.822G>A, NM_001199173.3:c.822G>T, NM_001199173.2:c.822G>A, NM_001199173.2:c.822G>T, NM_001199173.1:c.822G>A, NM_001199173.1:c.822G>T, NR_147905.2:n.1615G>A, NR_147905.2:n.1615G>T, NR_147905.1:n.1892G>A, NR_147905.1:n.1892G>T, NR_147904.2:n.1585G>A, NR_147904.2:n.1585G>T, NR_147904.1:n.1862G>A, NR_147904.1:n.1862G>T, NR_147907.2:n.1144G>A, NR_147907.2:n.1144G>T, NR_147907.1:n.873G>A, NR_147907.1:n.873G>T, NM_001352059.2:c.624G>A, NM_001352059.2:c.624G>T, NM_001352059.1:c.624G>A, NM_001352059.1:c.624G>T, NM_001352060.2:c.624G>A, NM_001352060.2:c.624G>T, NM_001352060.1:c.624G>A, NM_001352060.1:c.624G>T, NM_001352057.2:c.840G>A, NM_001352057.2:c.840G>T, NM_001352057.1:c.840G>A, NM_001352057.1:c.840G>T, NR_147906.2:n.811G>A, NR_147906.2:n.811G>T, NR_147906.1:n.1088G>A, NR_147906.1:n.1088G>T, XM_047434466.1:c.1035G>A, XM_047434466.1:c.1035G>T, XM_047434467.1:c.*100G>A, XM_047434467.1:c.*100G>T, NP_071767.3:p.Trp274Ter, NP_071767.3:p.Trp274Cys, XP_005255532.3:p.Trp351Ter, XP_005255532.3:p.Trp351Cys, NP_001186103.1:p.Trp274Ter, NP_001186103.1:p.Trp274Cys, NP_001186104.1:p.Trp273Ter, NP_001186104.1:p.Trp273Cys, XP_005255536.1:p.Trp280Ter, XP_005255536.1:p.Trp280Cys, NP_001186102.1:p.Trp274Ter, NP_001186102.1:p.Trp274Cys, NP_001338988.1:p.Trp208Ter, NP_001338988.1:p.Trp208Cys, NP_001338989.1:p.Trp208Ter, NP_001338989.1:p.Trp208Cys, NP_001338986.1:p.Trp280Ter, NP_001338986.1:p.Trp280Cys, XP_047290422.1:p.Trp345Ter, XP_047290422.1:p.Trp345Cys

                                  17.

                                  rs1447641122 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    16:2208454 (GRCh38)
                                    16:2258455 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:2208453:C:T
                                    Gene:
                                    MLST8 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                    HGVS:
                                    NC_000016.10:g.2208454C>T, NC_000016.9:g.2258455C>T, NM_022372.6:c.703C>T, NM_022372.5:c.703C>T, NM_022372.4:c.703C>T, XM_005255475.4:c.934C>T, XM_005255475.3:c.778C>T, XM_005255475.2:c.778C>T, XM_005255475.1:c.934C>T, NM_001199174.3:c.703C>T, NM_001199174.2:c.703C>T, NM_001199174.1:c.703C>T, NM_001199175.3:c.700C>T, NM_001199175.2:c.700C>T, NM_001199175.1:c.700C>T, XM_005255479.3:c.721C>T, XM_005255479.2:c.721C>T, XM_005255479.1:c.721C>T, NM_001199173.3:c.703C>T, NM_001199173.2:c.703C>T, NM_001199173.1:c.703C>T, NR_147905.2:n.1496C>T, NR_147905.1:n.1773C>T, NR_147904.2:n.1466C>T, NR_147904.1:n.1743C>T, NR_147907.2:n.1025C>T, NR_147907.1:n.754C>T, NM_001352059.2:c.505C>T, NM_001352059.1:c.505C>T, NM_001352060.2:c.505C>T, NM_001352060.1:c.505C>T, NM_001352057.2:c.721C>T, NM_001352057.1:c.721C>T, NR_147906.2:n.692C>T, NR_147906.1:n.969C>T, XM_047434466.1:c.916C>T, XM_047434467.1:c.809C>T, NP_071767.3:p.Leu235Phe, XP_005255532.3:p.Leu312Phe, NP_001186103.1:p.Leu235Phe, NP_001186104.1:p.Leu234Phe, XP_005255536.1:p.Leu241Phe, NP_001186102.1:p.Leu235Phe, NP_001338988.1:p.Leu169Phe, NP_001338989.1:p.Leu169Phe, NP_001338986.1:p.Leu241Phe, XP_047290422.1:p.Leu306Phe, XP_047290423.1:p.Pro270Leu

                                    18.

                                    rs1444683621 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      16:2206600 (GRCh38)
                                      16:2256601 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:2206599:A:C
                                      Gene:
                                      MLST8 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0.000071/1 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000016.10:g.2206600A>C, NC_000016.9:g.2256601A>C, NM_022372.6:c.285A>C, NM_022372.5:c.285A>C, NM_022372.4:c.285A>C, XM_005255475.4:c.516A>C, XM_005255475.3:c.360A>C, XM_005255475.2:c.360A>C, XM_005255475.1:c.516A>C, NM_001199174.3:c.285A>C, NM_001199174.2:c.285A>C, NM_001199174.1:c.285A>C, NM_001199175.3:c.282A>C, NM_001199175.2:c.282A>C, NM_001199175.1:c.282A>C, XM_005255479.3:c.303A>C, XM_005255479.2:c.303A>C, XM_005255479.1:c.303A>C, NM_001199173.3:c.285A>C, NM_001199173.2:c.285A>C, NM_001199173.1:c.285A>C, NR_147905.2:n.399A>C, NR_147905.1:n.676A>C, NR_147904.2:n.369A>C, NR_147904.1:n.646A>C, NR_147907.2:n.732A>C, NR_147907.1:n.461A>C, NM_001352059.2:c.87A>C, NM_001352059.1:c.87A>C, NM_001352060.2:c.87A>C, NM_001352060.1:c.87A>C, NM_001352057.2:c.303A>C, NM_001352057.1:c.303A>C, NR_147906.2:n.399A>C, NR_147906.1:n.676A>C, XM_047434466.1:c.498A>C, XM_047434467.1:c.516A>C, NP_071767.3:p.Glu95Asp, XP_005255532.3:p.Glu172Asp, NP_001186103.1:p.Glu95Asp, NP_001186104.1:p.Glu94Asp, XP_005255536.1:p.Glu101Asp, NP_001186102.1:p.Glu95Asp, NP_001338988.1:p.Glu29Asp, NP_001338989.1:p.Glu29Asp, NP_001338986.1:p.Glu101Asp, XP_047290422.1:p.Glu166Asp, XP_047290423.1:p.Glu172Asp

                                      19.

                                      rs1443101666 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G,T [Show Flanks]
                                        Chromosome:
                                        16:2206092 (GRCh38)
                                        16:2256093 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:2206091:A:G,NC_000016.10:2206091:A:T
                                        Gene:
                                        MLST8 (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:
                                        NC_000016.10:g.2206092A>G, NC_000016.10:g.2206092A>T, NC_000016.9:g.2256093A>G, NC_000016.9:g.2256093A>T, NM_022372.6:c.7A>G, NM_022372.6:c.7A>T, NM_022372.5:c.7A>G, NM_022372.5:c.7A>T, NM_022372.4:c.7A>G, NM_022372.4:c.7A>T, XM_005255475.4:c.220A>G, XM_005255475.4:c.220A>T, XM_005255475.3:c.64A>G, XM_005255475.3:c.64A>T, XM_005255475.2:c.64A>G, XM_005255475.2:c.64A>T, XM_005255475.1:c.220A>G, XM_005255475.1:c.220A>T, NM_001199174.3:c.7A>G, NM_001199174.3:c.7A>T, NM_001199174.2:c.7A>G, NM_001199174.2:c.7A>T, NM_001199174.1:c.7A>G, NM_001199174.1:c.7A>T, NM_001199175.3:c.7A>G, NM_001199175.3:c.7A>T, NM_001199175.2:c.7A>G, NM_001199175.2:c.7A>T, NM_001199175.1:c.7A>G, NM_001199175.1:c.7A>T, XM_005255479.3:c.7A>G, XM_005255479.3:c.7A>T, XM_005255479.2:c.7A>G, XM_005255479.2:c.7A>T, XM_005255479.1:c.7A>G, XM_005255479.1:c.7A>T, NM_001199173.3:c.7A>G, NM_001199173.3:c.7A>T, NM_001199173.2:c.7A>G, NM_001199173.2:c.7A>T, NM_001199173.1:c.7A>G, NM_001199173.1:c.7A>T, NR_147905.2:n.121A>G, NR_147905.2:n.121A>T, NR_147905.1:n.398A>G, NR_147905.1:n.398A>T, NR_147904.2:n.91A>G, NR_147904.2:n.91A>T, NR_147904.1:n.368A>G, NR_147904.1:n.368A>T, NR_147907.2:n.454A>G, NR_147907.2:n.454A>T, NR_147907.1:n.183A>G, NR_147907.1:n.183A>T, NM_001352059.2:c.-279A>G, NM_001352059.2:c.-279A>T, NM_001352059.1:c.-279A>G, NM_001352059.1:c.-279A>T, NM_001352060.2:c.-279A>G, NM_001352060.2:c.-279A>T, NM_001352060.1:c.-279A>G, NM_001352060.1:c.-279A>T, NM_001352057.2:c.7A>G, NM_001352057.2:c.7A>T, NM_001352057.1:c.7A>G, NM_001352057.1:c.7A>T, NR_147906.2:n.121A>G, NR_147906.2:n.121A>T, NR_147906.1:n.398A>G, NR_147906.1:n.398A>T, XM_047434466.1:c.220A>G, XM_047434466.1:c.220A>T, XM_047434467.1:c.220A>G, XM_047434467.1:c.220A>T, NP_071767.3:p.Thr3Ala, NP_071767.3:p.Thr3Ser, XP_005255532.3:p.Thr74Ala, XP_005255532.3:p.Thr74Ser, NP_001186103.1:p.Thr3Ala, NP_001186103.1:p.Thr3Ser, NP_001186104.1:p.Thr3Ala, NP_001186104.1:p.Thr3Ser, XP_005255536.1:p.Thr3Ala, XP_005255536.1:p.Thr3Ser, NP_001186102.1:p.Thr3Ala, NP_001186102.1:p.Thr3Ser, NP_001338986.1:p.Thr3Ala, NP_001338986.1:p.Thr3Ser, XP_047290422.1:p.Thr74Ala, XP_047290422.1:p.Thr74Ser, XP_047290423.1:p.Thr74Ala, XP_047290423.1:p.Thr74Ser

                                        20.

                                        rs1442615030 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          CCAGA>- [Show Flanks]
                                          Chromosome:
                                          16:2207213 (GRCh38)
                                          16:2257214 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:2207210:GACCAGA:GA
                                          Gene:
                                          MLST8 (Varview)
                                          Functional Consequence:
                                          frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          -=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000016.10:g.2207213_2207217del, NC_000016.9:g.2257214_2257218del, NM_022372.6:c.441_445del, NM_022372.5:c.441_445del, NM_022372.4:c.441_445del, XM_005255475.4:c.672_676del, XM_005255475.3:c.516_520del, XM_005255475.2:c.516_520del, XM_005255475.1:c.672_676del, NM_001199174.3:c.441_445del, NM_001199174.2:c.441_445del, NM_001199174.1:c.441_445del, NM_001199175.3:c.438_442del, NM_001199175.2:c.438_442del, NM_001199175.1:c.438_442del, XM_005255479.3:c.459_463del, XM_005255479.2:c.459_463del, XM_005255479.1:c.459_463del, NM_001199173.3:c.441_445del, NM_001199173.2:c.441_445del, NM_001199173.1:c.441_445del, NR_147905.2:n.555_559del, NR_147905.1:n.832_836del, NR_147904.2:n.525_529del, NR_147904.1:n.802_806del, NR_147907.2:n.888_892del, NR_147907.1:n.617_621del, NM_001352059.2:c.243_247del, NM_001352059.1:c.243_247del, NM_001352060.2:c.243_247del, NM_001352060.1:c.243_247del, NM_001352057.2:c.459_463del, NM_001352057.1:c.459_463del, NR_147906.2:n.555_559del, NR_147906.1:n.832_836del, XM_047434466.1:c.654_658del, XM_047434467.1:c.672_676del, NP_071767.3:p.Asp147fs, XP_005255532.3:p.Asp224fs, NP_001186103.1:p.Asp147fs, NP_001186104.1:p.Asp146fs, XP_005255536.1:p.Asp153fs, NP_001186102.1:p.Asp147fs, NP_001338988.1:p.Asp81fs, NP_001338989.1:p.Asp81fs, NP_001338986.1:p.Asp153fs, XP_047290422.1:p.Asp218fs, XP_047290423.1:p.Asp224fs

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