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Items: 1 to 20 of 1253

1.

rs1490609776 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    14:75047740 (GRCh38)
    14:75514443 (GRCh37)
    Canonical SPDI:
    NC_000014.9:75047739:T:C
    Gene:
    MLH3 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000008/2 (TOPMED)
    C=0.000021/3 (GnomAD)
    C=0.000106/2 (TOMMO)
    HGVS:
    NC_000014.9:g.75047740T>C, NC_000014.8:g.75514443T>C, NG_008649.1:g.8793A>G, NM_014381.3:c.1916A>G, NM_014381.2:c.1916A>G, NM_001040108.2:c.1916A>G, NM_001040108.1:c.1916A>G, XM_005267532.6:c.1916A>G, XM_005267532.5:c.1916A>G, XM_005267532.4:c.1916A>G, XM_005267532.3:c.1916A>G, XM_005267532.2:c.1916A>G, XM_005267532.1:c.1916A>G, XM_005267533.6:c.1916A>G, XM_005267533.5:c.1916A>G, XM_005267533.4:c.1916A>G, XM_005267533.3:c.1916A>G, XM_005267533.2:c.1916A>G, XM_005267533.1:c.1916A>G, XM_006720116.5:c.1916A>G, XM_006720116.4:c.1916A>G, XM_006720116.3:c.1916A>G, XM_006720116.2:c.1916A>G, XM_006720116.1:c.1916A>G, XR_245681.5:n.2067A>G, XR_245681.4:n.2079A>G, XR_245681.3:n.2132A>G, XR_245681.2:n.2132A>G, XR_245681.1:n.2132A>G, XM_005267534.4:c.1916A>G, XM_005267534.3:c.1916A>G, XM_005267534.2:c.1916A>G, XM_005267534.1:c.1916A>G, XM_017021219.3:c.1916A>G, XM_017021219.2:c.1916A>G, XM_017021219.1:c.1916A>G, XR_001750225.3:n.2067A>G, XR_001750225.2:n.2079A>G, XR_001750225.1:n.2132A>G, XM_024449538.2:c.1916A>G, XM_024449538.1:c.1916A>G, XM_047431265.1:c.1916A>G, XR_007064004.1:n.2067A>G, XR_007064005.1:n.2067A>G, XM_047431266.1:c.1916A>G, XM_047431267.1:c.1916A>G, XM_047431268.1:c.1916A>G, XM_047431269.1:c.1916A>G, NP_055196.2:p.Gln639Arg, NP_001035197.1:p.Gln639Arg, XP_005267589.1:p.Gln639Arg, XP_005267590.1:p.Gln639Arg, XP_006720179.1:p.Gln639Arg, XP_005267591.1:p.Gln639Arg, XP_016876708.1:p.Gln639Arg, XP_024305306.1:p.Gln639Arg, XP_047287221.1:p.Gln639Arg, XP_047287222.1:p.Gln639Arg, XP_047287223.1:p.Gln639Arg, XP_047287224.1:p.Gln639Arg, XP_047287225.1:p.Gln639Arg

    2.

    rs1489117432 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      14:75046401 (GRCh38)
      14:75513104 (GRCh37)
      Canonical SPDI:
      NC_000014.9:75046400:C:G
      Gene:
      MLH3 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000014.9:g.75046401C>G, NC_000014.8:g.75513104C>G, NG_008649.1:g.10132G>C, NM_014381.3:c.3255G>C, NM_014381.2:c.3255G>C, NM_001040108.2:c.3255G>C, NM_001040108.1:c.3255G>C, XM_005267532.6:c.3255G>C, XM_005267532.5:c.3255G>C, XM_005267532.4:c.3255G>C, XM_005267532.3:c.3255G>C, XM_005267532.2:c.3255G>C, XM_005267532.1:c.3255G>C, XM_005267533.6:c.3255G>C, XM_005267533.5:c.3255G>C, XM_005267533.4:c.3255G>C, XM_005267533.3:c.3255G>C, XM_005267533.2:c.3255G>C, XM_005267533.1:c.3255G>C, XM_006720116.5:c.3255G>C, XM_006720116.4:c.3255G>C, XM_006720116.3:c.3255G>C, XM_006720116.2:c.3255G>C, XM_006720116.1:c.3255G>C, XR_245681.5:n.3406G>C, XR_245681.4:n.3418G>C, XR_245681.3:n.3471G>C, XR_245681.2:n.3471G>C, XR_245681.1:n.3471G>C, XM_005267534.4:c.3255G>C, XM_005267534.3:c.3255G>C, XM_005267534.2:c.3255G>C, XM_005267534.1:c.3255G>C, XM_017021219.3:c.3255G>C, XM_017021219.2:c.3255G>C, XM_017021219.1:c.3255G>C, XR_001750225.3:n.3406G>C, XR_001750225.2:n.3418G>C, XR_001750225.1:n.3471G>C, XM_024449538.2:c.3255G>C, XM_024449538.1:c.3255G>C, XM_047431265.1:c.3255G>C, XR_007064004.1:n.3406G>C, XR_007064005.1:n.3406G>C, XM_047431266.1:c.3255G>C, XM_047431267.1:c.3255G>C, XM_047431268.1:c.3255G>C, XM_047431269.1:c.3255G>C

      3.

      rs1489096673 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        14:75047309 (GRCh38)
        14:75514012 (GRCh37)
        Canonical SPDI:
        NC_000014.9:75047308:T:G
        Gene:
        MLH3 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        G=0.000008/2 (GnomAD_exomes)
        HGVS:
        NC_000014.9:g.75047309T>G, NC_000014.8:g.75514012T>G, NG_008649.1:g.9224A>C, NM_014381.3:c.2347A>C, NM_014381.2:c.2347A>C, NM_001040108.2:c.2347A>C, NM_001040108.1:c.2347A>C, XM_005267532.6:c.2347A>C, XM_005267532.5:c.2347A>C, XM_005267532.4:c.2347A>C, XM_005267532.3:c.2347A>C, XM_005267532.2:c.2347A>C, XM_005267532.1:c.2347A>C, XM_005267533.6:c.2347A>C, XM_005267533.5:c.2347A>C, XM_005267533.4:c.2347A>C, XM_005267533.3:c.2347A>C, XM_005267533.2:c.2347A>C, XM_005267533.1:c.2347A>C, XM_006720116.5:c.2347A>C, XM_006720116.4:c.2347A>C, XM_006720116.3:c.2347A>C, XM_006720116.2:c.2347A>C, XM_006720116.1:c.2347A>C, XR_245681.5:n.2498A>C, XR_245681.4:n.2510A>C, XR_245681.3:n.2563A>C, XR_245681.2:n.2563A>C, XR_245681.1:n.2563A>C, XM_005267534.4:c.2347A>C, XM_005267534.3:c.2347A>C, XM_005267534.2:c.2347A>C, XM_005267534.1:c.2347A>C, XM_017021219.3:c.2347A>C, XM_017021219.2:c.2347A>C, XM_017021219.1:c.2347A>C, XR_001750225.3:n.2498A>C, XR_001750225.2:n.2510A>C, XR_001750225.1:n.2563A>C, XM_024449538.2:c.2347A>C, XM_024449538.1:c.2347A>C, XM_047431265.1:c.2347A>C, XR_007064004.1:n.2498A>C, XR_007064005.1:n.2498A>C, XM_047431266.1:c.2347A>C, XM_047431267.1:c.2347A>C, XM_047431268.1:c.2347A>C, XM_047431269.1:c.2347A>C, NP_055196.2:p.Ser783Arg, NP_001035197.1:p.Ser783Arg, XP_005267589.1:p.Ser783Arg, XP_005267590.1:p.Ser783Arg, XP_006720179.1:p.Ser783Arg, XP_005267591.1:p.Ser783Arg, XP_016876708.1:p.Ser783Arg, XP_024305306.1:p.Ser783Arg, XP_047287221.1:p.Ser783Arg, XP_047287222.1:p.Ser783Arg, XP_047287223.1:p.Ser783Arg, XP_047287224.1:p.Ser783Arg, XP_047287225.1:p.Ser783Arg

        4.

        rs1488016526 has merged into rs775277584 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          T>-,TT [Show Flanks]
          Chromosome:
          14:75046868 (GRCh38)
          14:75513571 (GRCh37)
          Canonical SPDI:
          NC_000014.9:75046867:TTTTTT:TTTTT,NC_000014.9:75046867:TTTTTT:TTTTTTT
          Gene:
          MLH3 (Varview)
          Functional Consequence:
          frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
          Clinical significance:
          pathogenic
          Validated:
          by frequency,by cluster
          MAF:
          -=0./0 (TWINSUK)
          -=0.000004/1 (GnomAD_exomes)
          -=0.000259/1 (ALSPAC)
          HGVS:
          NC_000014.9:g.75046873del, NC_000014.9:g.75046873dup, NC_000014.8:g.75513576del, NC_000014.8:g.75513576dup, NG_008649.1:g.9665del, NG_008649.1:g.9665dup, NM_014381.3:c.2788del, NM_014381.3:c.2788dup, NM_014381.2:c.2788del, NM_014381.2:c.2788dup, NM_001040108.2:c.2788del, NM_001040108.2:c.2788dup, NM_001040108.1:c.2788del, NM_001040108.1:c.2788dup, XM_005267532.6:c.2788del, XM_005267532.6:c.2788dup, XM_005267532.5:c.2788del, XM_005267532.5:c.2788dup, XM_005267532.4:c.2788del, XM_005267532.4:c.2788dup, XM_005267532.3:c.2788del, XM_005267532.3:c.2788dup, XM_005267532.2:c.2788del, XM_005267532.2:c.2788dup, XM_005267532.1:c.2788del, XM_005267532.1:c.2788dup, XM_005267533.6:c.2788del, XM_005267533.6:c.2788dup, XM_005267533.5:c.2788del, XM_005267533.5:c.2788dup, XM_005267533.4:c.2788del, XM_005267533.4:c.2788dup, XM_005267533.3:c.2788del, XM_005267533.3:c.2788dup, XM_005267533.2:c.2788del, XM_005267533.2:c.2788dup, XM_005267533.1:c.2788del, XM_005267533.1:c.2788dup, XM_006720116.5:c.2788del, XM_006720116.5:c.2788dup, XM_006720116.4:c.2788del, XM_006720116.4:c.2788dup, XM_006720116.3:c.2788del, XM_006720116.3:c.2788dup, XM_006720116.2:c.2788del, XM_006720116.2:c.2788dup, XM_006720116.1:c.2788del, XM_006720116.1:c.2788dup, XR_245681.5:n.2939del, XR_245681.5:n.2939dup, XR_245681.4:n.2951del, XR_245681.4:n.2951dup, XR_245681.3:n.3004del, XR_245681.3:n.3004dup, XR_245681.2:n.3004del, XR_245681.2:n.3004dup, XR_245681.1:n.3004del, XR_245681.1:n.3004dup, XM_005267534.4:c.2788del, XM_005267534.4:c.2788dup, XM_005267534.3:c.2788del, XM_005267534.3:c.2788dup, XM_005267534.2:c.2788del, XM_005267534.2:c.2788dup, XM_005267534.1:c.2788del, XM_005267534.1:c.2788dup, XM_017021219.3:c.2788del, XM_017021219.3:c.2788dup, XM_017021219.2:c.2788del, XM_017021219.2:c.2788dup, XM_017021219.1:c.2788del, XM_017021219.1:c.2788dup, XR_001750225.3:n.2939del, XR_001750225.3:n.2939dup, XR_001750225.2:n.2951del, XR_001750225.2:n.2951dup, XR_001750225.1:n.3004del, XR_001750225.1:n.3004dup, XM_024449538.2:c.2788del, XM_024449538.2:c.2788dup, XM_024449538.1:c.2788del, XM_024449538.1:c.2788dup, XM_047431265.1:c.2788del, XM_047431265.1:c.2788dup, XR_007064004.1:n.2939del, XR_007064004.1:n.2939dup, XR_007064005.1:n.2939del, XR_007064005.1:n.2939dup, XM_047431266.1:c.2788del, XM_047431266.1:c.2788dup, XM_047431267.1:c.2788del, XM_047431267.1:c.2788dup, XM_047431268.1:c.2788del, XM_047431268.1:c.2788dup, XM_047431269.1:c.2788del, XM_047431269.1:c.2788dup, NP_055196.2:p.Thr930fs, NP_055196.2:p.Thr930fs, NP_001035197.1:p.Thr930fs, NP_001035197.1:p.Thr930fs, XP_005267589.1:p.Thr930fs, XP_005267589.1:p.Thr930fs, XP_005267590.1:p.Thr930fs, XP_005267590.1:p.Thr930fs, XP_006720179.1:p.Thr930fs, XP_006720179.1:p.Thr930fs, XP_005267591.1:p.Thr930fs, XP_005267591.1:p.Thr930fs, XP_016876708.1:p.Thr930fs, XP_016876708.1:p.Thr930fs, XP_024305306.1:p.Thr930fs, XP_024305306.1:p.Thr930fs, XP_047287221.1:p.Thr930fs, XP_047287221.1:p.Thr930fs, XP_047287222.1:p.Thr930fs, XP_047287222.1:p.Thr930fs, XP_047287223.1:p.Thr930fs, XP_047287223.1:p.Thr930fs, XP_047287224.1:p.Thr930fs, XP_047287224.1:p.Thr930fs, XP_047287225.1:p.Thr930fs, XP_047287225.1:p.Thr930fs

          5.

          rs1487591926 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            14:75047596 (GRCh38)
            14:75514299 (GRCh37)
            Canonical SPDI:
            NC_000014.9:75047595:G:A
            Gene:
            MLH3 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000014.9:g.75047596G>A, NC_000014.8:g.75514299G>A, NG_008649.1:g.8937C>T, NM_014381.3:c.2060C>T, NM_014381.2:c.2060C>T, NM_001040108.2:c.2060C>T, NM_001040108.1:c.2060C>T, XM_005267532.6:c.2060C>T, XM_005267532.5:c.2060C>T, XM_005267532.4:c.2060C>T, XM_005267532.3:c.2060C>T, XM_005267532.2:c.2060C>T, XM_005267532.1:c.2060C>T, XM_005267533.6:c.2060C>T, XM_005267533.5:c.2060C>T, XM_005267533.4:c.2060C>T, XM_005267533.3:c.2060C>T, XM_005267533.2:c.2060C>T, XM_005267533.1:c.2060C>T, XM_006720116.5:c.2060C>T, XM_006720116.4:c.2060C>T, XM_006720116.3:c.2060C>T, XM_006720116.2:c.2060C>T, XM_006720116.1:c.2060C>T, XR_245681.5:n.2211C>T, XR_245681.4:n.2223C>T, XR_245681.3:n.2276C>T, XR_245681.2:n.2276C>T, XR_245681.1:n.2276C>T, XM_005267534.4:c.2060C>T, XM_005267534.3:c.2060C>T, XM_005267534.2:c.2060C>T, XM_005267534.1:c.2060C>T, XM_017021219.3:c.2060C>T, XM_017021219.2:c.2060C>T, XM_017021219.1:c.2060C>T, XR_001750225.3:n.2211C>T, XR_001750225.2:n.2223C>T, XR_001750225.1:n.2276C>T, XM_024449538.2:c.2060C>T, XM_024449538.1:c.2060C>T, XM_047431265.1:c.2060C>T, XR_007064004.1:n.2211C>T, XR_007064005.1:n.2211C>T, XM_047431266.1:c.2060C>T, XM_047431267.1:c.2060C>T, XM_047431268.1:c.2060C>T, XM_047431269.1:c.2060C>T, NP_055196.2:p.Pro687Leu, NP_001035197.1:p.Pro687Leu, XP_005267589.1:p.Pro687Leu, XP_005267590.1:p.Pro687Leu, XP_006720179.1:p.Pro687Leu, XP_005267591.1:p.Pro687Leu, XP_016876708.1:p.Pro687Leu, XP_024305306.1:p.Pro687Leu, XP_047287221.1:p.Pro687Leu, XP_047287222.1:p.Pro687Leu, XP_047287223.1:p.Pro687Leu, XP_047287224.1:p.Pro687Leu, XP_047287225.1:p.Pro687Leu

            6.

            rs1486746842 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,G [Show Flanks]
              Chromosome:
              14:75048117 (GRCh38)
              14:75514820 (GRCh37)
              Canonical SPDI:
              NC_000014.9:75048116:C:A,NC_000014.9:75048116:C:G
              Gene:
              MLH3 (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (GnomAD_exomes)
              G=0.000014/2 (GnomAD)
              G=0.000015/4 (TOPMED)
              HGVS:
              NC_000014.9:g.75048117C>A, NC_000014.9:g.75048117C>G, NC_000014.8:g.75514820C>A, NC_000014.8:g.75514820C>G, NG_008649.1:g.8416G>T, NG_008649.1:g.8416G>C, NM_014381.3:c.1539G>T, NM_014381.3:c.1539G>C, NM_014381.2:c.1539G>T, NM_014381.2:c.1539G>C, NM_001040108.2:c.1539G>T, NM_001040108.2:c.1539G>C, NM_001040108.1:c.1539G>T, NM_001040108.1:c.1539G>C, XM_005267532.6:c.1539G>T, XM_005267532.6:c.1539G>C, XM_005267532.5:c.1539G>T, XM_005267532.5:c.1539G>C, XM_005267532.4:c.1539G>T, XM_005267532.4:c.1539G>C, XM_005267532.3:c.1539G>T, XM_005267532.3:c.1539G>C, XM_005267532.2:c.1539G>T, XM_005267532.2:c.1539G>C, XM_005267532.1:c.1539G>T, XM_005267532.1:c.1539G>C, XM_005267533.6:c.1539G>T, XM_005267533.6:c.1539G>C, XM_005267533.5:c.1539G>T, XM_005267533.5:c.1539G>C, XM_005267533.4:c.1539G>T, XM_005267533.4:c.1539G>C, XM_005267533.3:c.1539G>T, XM_005267533.3:c.1539G>C, XM_005267533.2:c.1539G>T, XM_005267533.2:c.1539G>C, XM_005267533.1:c.1539G>T, XM_005267533.1:c.1539G>C, XM_006720116.5:c.1539G>T, XM_006720116.5:c.1539G>C, XM_006720116.4:c.1539G>T, XM_006720116.4:c.1539G>C, XM_006720116.3:c.1539G>T, XM_006720116.3:c.1539G>C, XM_006720116.2:c.1539G>T, XM_006720116.2:c.1539G>C, XM_006720116.1:c.1539G>T, XM_006720116.1:c.1539G>C, XR_245681.5:n.1690G>T, XR_245681.5:n.1690G>C, XR_245681.4:n.1702G>T, XR_245681.4:n.1702G>C, XR_245681.3:n.1755G>T, XR_245681.3:n.1755G>C, XR_245681.2:n.1755G>T, XR_245681.2:n.1755G>C, XR_245681.1:n.1755G>T, XR_245681.1:n.1755G>C, XM_005267534.4:c.1539G>T, XM_005267534.4:c.1539G>C, XM_005267534.3:c.1539G>T, XM_005267534.3:c.1539G>C, XM_005267534.2:c.1539G>T, XM_005267534.2:c.1539G>C, XM_005267534.1:c.1539G>T, XM_005267534.1:c.1539G>C, XM_017021219.3:c.1539G>T, XM_017021219.3:c.1539G>C, XM_017021219.2:c.1539G>T, XM_017021219.2:c.1539G>C, XM_017021219.1:c.1539G>T, XM_017021219.1:c.1539G>C, XR_001750225.3:n.1690G>T, XR_001750225.3:n.1690G>C, XR_001750225.2:n.1702G>T, XR_001750225.2:n.1702G>C, XR_001750225.1:n.1755G>T, XR_001750225.1:n.1755G>C, XM_024449538.2:c.1539G>T, XM_024449538.2:c.1539G>C, XM_024449538.1:c.1539G>T, XM_024449538.1:c.1539G>C, XM_047431265.1:c.1539G>T, XM_047431265.1:c.1539G>C, XR_007064004.1:n.1690G>T, XR_007064004.1:n.1690G>C, XR_007064005.1:n.1690G>T, XR_007064005.1:n.1690G>C, XM_047431266.1:c.1539G>T, XM_047431266.1:c.1539G>C, XM_047431267.1:c.1539G>T, XM_047431267.1:c.1539G>C, XM_047431268.1:c.1539G>T, XM_047431268.1:c.1539G>C, XM_047431269.1:c.1539G>T, XM_047431269.1:c.1539G>C, NP_055196.2:p.Gln513His, NP_055196.2:p.Gln513His, NP_001035197.1:p.Gln513His, NP_001035197.1:p.Gln513His, XP_005267589.1:p.Gln513His, XP_005267589.1:p.Gln513His, XP_005267590.1:p.Gln513His, XP_005267590.1:p.Gln513His, XP_006720179.1:p.Gln513His, XP_006720179.1:p.Gln513His, XP_005267591.1:p.Gln513His, XP_005267591.1:p.Gln513His, XP_016876708.1:p.Gln513His, XP_016876708.1:p.Gln513His, XP_024305306.1:p.Gln513His, XP_024305306.1:p.Gln513His, XP_047287221.1:p.Gln513His, XP_047287221.1:p.Gln513His, XP_047287222.1:p.Gln513His, XP_047287222.1:p.Gln513His, XP_047287223.1:p.Gln513His, XP_047287223.1:p.Gln513His, XP_047287224.1:p.Gln513His, XP_047287224.1:p.Gln513His, XP_047287225.1:p.Gln513His, XP_047287225.1:p.Gln513His

              7.

              rs1486667105 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                14:75022815 (GRCh38)
                14:75489518 (GRCh37)
                Canonical SPDI:
                NC_000014.9:75022814:A:G
                Gene:
                MLH3 (Varview)
                Functional Consequence:
                synonymous_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000014.9:g.75022815A>G, NC_000014.8:g.75489518A>G, NG_008649.1:g.33718T>C, NM_014381.3:c.4017T>C, NM_014381.2:c.4017T>C, NM_001040108.2:c.4089T>C, NM_001040108.1:c.4089T>C, XM_005267532.6:c.3984T>C, XM_005267532.5:c.3984T>C, XM_005267532.4:c.3984T>C, XM_005267532.3:c.3984T>C, XM_005267532.2:c.3984T>C, XM_005267532.1:c.3984T>C, XM_005267533.6:c.3912T>C, XM_005267533.5:c.3912T>C, XM_005267533.4:c.3912T>C, XM_005267533.3:c.3912T>C, XM_005267533.2:c.3912T>C, XM_005267533.1:c.3912T>C, XM_006720116.5:c.4089T>C, XM_006720116.4:c.4089T>C, XM_006720116.3:c.4089T>C, XM_006720116.2:c.4089T>C, XM_006720116.1:c.4089T>C, XR_245681.5:n.4240T>C, XR_245681.4:n.4252T>C, XR_245681.3:n.4305T>C, XR_245681.2:n.4305T>C, XR_245681.1:n.4305T>C, XM_017021219.3:c.4017T>C, XM_017021219.2:c.4017T>C, XM_017021219.1:c.4017T>C, XR_001750225.3:n.4168T>C, XR_001750225.2:n.4180T>C, XR_001750225.1:n.4233T>C, XM_024449538.2:c.3984T>C, XM_024449538.1:c.3984T>C, XM_047431265.1:c.3912T>C, XR_007064004.1:n.4135T>C, XR_007064005.1:n.4063T>C, XM_047431266.1:c.*35T>C

                8.

                rs1485456126 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  14:75049644 (GRCh38)
                  14:75516347 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:75049643:G:A
                  Gene:
                  MLH3 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000014.9:g.75049644G>A, NC_000014.8:g.75516347G>A, NG_008649.1:g.6889C>T, NM_014381.3:c.12C>T, NM_014381.2:c.12C>T, NM_001040108.2:c.12C>T, NM_001040108.1:c.12C>T, XM_005267532.6:c.12C>T, XM_005267532.5:c.12C>T, XM_005267532.4:c.12C>T, XM_005267532.3:c.12C>T, XM_005267532.2:c.12C>T, XM_005267532.1:c.12C>T, XM_005267533.6:c.12C>T, XM_005267533.5:c.12C>T, XM_005267533.4:c.12C>T, XM_005267533.3:c.12C>T, XM_005267533.2:c.12C>T, XM_005267533.1:c.12C>T, XM_006720116.5:c.12C>T, XM_006720116.4:c.12C>T, XM_006720116.3:c.12C>T, XM_006720116.2:c.12C>T, XM_006720116.1:c.12C>T, XR_245681.5:n.163C>T, XR_245681.4:n.175C>T, XR_245681.3:n.228C>T, XR_245681.2:n.228C>T, XR_245681.1:n.228C>T, XM_005267534.4:c.12C>T, XM_005267534.3:c.12C>T, XM_005267534.2:c.12C>T, XM_005267534.1:c.12C>T, XM_017021219.3:c.12C>T, XM_017021219.2:c.12C>T, XM_017021219.1:c.12C>T, XR_001750225.3:n.163C>T, XR_001750225.2:n.175C>T, XR_001750225.1:n.228C>T, XM_024449538.2:c.12C>T, XM_024449538.1:c.12C>T, XM_047431265.1:c.12C>T, XR_007064004.1:n.163C>T, XR_007064005.1:n.163C>T, XM_047431266.1:c.12C>T, XM_047431267.1:c.12C>T, XM_047431268.1:c.12C>T, XM_047431269.1:c.12C>T

                  9.

                  rs1484161045 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G [Show Flanks]
                    Chromosome:
                    14:75049213 (GRCh38)
                    14:75515916 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:75049212:A:C,NC_000014.9:75049212:A:G
                    Gene:
                    MLH3 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,missense_variant
                    Clinical significance:
                    uncertain-significance
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000028/1 (ALFA)
                    C=0.000012/3 (GnomAD_exomes)
                    G=0.000029/4 (GnomAD)
                    HGVS:
                    NC_000014.9:g.75049213A>C, NC_000014.9:g.75049213A>G, NC_000014.8:g.75515916A>C, NC_000014.8:g.75515916A>G, NG_008649.1:g.7320T>G, NG_008649.1:g.7320T>C, NM_014381.3:c.443T>G, NM_014381.3:c.443T>C, NM_014381.2:c.443T>G, NM_014381.2:c.443T>C, NM_001040108.2:c.443T>G, NM_001040108.2:c.443T>C, NM_001040108.1:c.443T>G, NM_001040108.1:c.443T>C, XM_005267532.6:c.443T>G, XM_005267532.6:c.443T>C, XM_005267532.5:c.443T>G, XM_005267532.5:c.443T>C, XM_005267532.4:c.443T>G, XM_005267532.4:c.443T>C, XM_005267532.3:c.443T>G, XM_005267532.3:c.443T>C, XM_005267532.2:c.443T>G, XM_005267532.2:c.443T>C, XM_005267532.1:c.443T>G, XM_005267532.1:c.443T>C, XM_005267533.6:c.443T>G, XM_005267533.6:c.443T>C, XM_005267533.5:c.443T>G, XM_005267533.5:c.443T>C, XM_005267533.4:c.443T>G, XM_005267533.4:c.443T>C, XM_005267533.3:c.443T>G, XM_005267533.3:c.443T>C, XM_005267533.2:c.443T>G, XM_005267533.2:c.443T>C, XM_005267533.1:c.443T>G, XM_005267533.1:c.443T>C, XM_006720116.5:c.443T>G, XM_006720116.5:c.443T>C, XM_006720116.4:c.443T>G, XM_006720116.4:c.443T>C, XM_006720116.3:c.443T>G, XM_006720116.3:c.443T>C, XM_006720116.2:c.443T>G, XM_006720116.2:c.443T>C, XM_006720116.1:c.443T>G, XM_006720116.1:c.443T>C, XR_245681.5:n.594T>G, XR_245681.5:n.594T>C, XR_245681.4:n.606T>G, XR_245681.4:n.606T>C, XR_245681.3:n.659T>G, XR_245681.3:n.659T>C, XR_245681.2:n.659T>G, XR_245681.2:n.659T>C, XR_245681.1:n.659T>G, XR_245681.1:n.659T>C, XM_005267534.4:c.443T>G, XM_005267534.4:c.443T>C, XM_005267534.3:c.443T>G, XM_005267534.3:c.443T>C, XM_005267534.2:c.443T>G, XM_005267534.2:c.443T>C, XM_005267534.1:c.443T>G, XM_005267534.1:c.443T>C, XM_017021219.3:c.443T>G, XM_017021219.3:c.443T>C, XM_017021219.2:c.443T>G, XM_017021219.2:c.443T>C, XM_017021219.1:c.443T>G, XM_017021219.1:c.443T>C, XR_001750225.3:n.594T>G, XR_001750225.3:n.594T>C, XR_001750225.2:n.606T>G, XR_001750225.2:n.606T>C, XR_001750225.1:n.659T>G, XR_001750225.1:n.659T>C, XM_024449538.2:c.443T>G, XM_024449538.2:c.443T>C, XM_024449538.1:c.443T>G, XM_024449538.1:c.443T>C, XM_047431265.1:c.443T>G, XM_047431265.1:c.443T>C, XR_007064004.1:n.594T>G, XR_007064004.1:n.594T>C, XR_007064005.1:n.594T>G, XR_007064005.1:n.594T>C, XM_047431266.1:c.443T>G, XM_047431266.1:c.443T>C, XM_047431267.1:c.443T>G, XM_047431267.1:c.443T>C, XM_047431268.1:c.443T>G, XM_047431268.1:c.443T>C, XM_047431269.1:c.443T>G, XM_047431269.1:c.443T>C, NP_055196.2:p.Val148Gly, NP_055196.2:p.Val148Ala, NP_001035197.1:p.Val148Gly, NP_001035197.1:p.Val148Ala, XP_005267589.1:p.Val148Gly, XP_005267589.1:p.Val148Ala, XP_005267590.1:p.Val148Gly, XP_005267590.1:p.Val148Ala, XP_006720179.1:p.Val148Gly, XP_006720179.1:p.Val148Ala, XP_005267591.1:p.Val148Gly, XP_005267591.1:p.Val148Ala, XP_016876708.1:p.Val148Gly, XP_016876708.1:p.Val148Ala, XP_024305306.1:p.Val148Gly, XP_024305306.1:p.Val148Ala, XP_047287221.1:p.Val148Gly, XP_047287221.1:p.Val148Ala, XP_047287222.1:p.Val148Gly, XP_047287222.1:p.Val148Ala, XP_047287223.1:p.Val148Gly, XP_047287223.1:p.Val148Ala, XP_047287224.1:p.Val148Gly, XP_047287224.1:p.Val148Ala, XP_047287225.1:p.Val148Gly, XP_047287225.1:p.Val148Ala

                    10.

                    rs1483852500 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AG>- [Show Flanks]
                      Chromosome:
                      14:75048678 (GRCh38)
                      14:75515381 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:75048675:AGAG:AG
                      Gene:
                      MLH3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AGAG=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000014.9:g.75048676AG[1], NC_000014.8:g.75515379AG[1], NG_008649.1:g.7854CT[1], NM_014381.3:c.979_980del, NM_014381.2:c.979_980del, NM_001040108.2:c.979_980del, NM_001040108.1:c.979_980del, XM_005267532.6:c.979_980del, XM_005267532.5:c.979_980del, XM_005267532.4:c.979_980del, XM_005267532.3:c.979_980del, XM_005267532.2:c.979_980del, XM_005267532.1:c.979_980del, XM_005267533.6:c.979_980del, XM_005267533.5:c.979_980del, XM_005267533.4:c.979_980del, XM_005267533.3:c.979_980del, XM_005267533.2:c.979_980del, XM_005267533.1:c.979_980del, XM_006720116.5:c.979_980del, XM_006720116.4:c.979_980del, XM_006720116.3:c.979_980del, XM_006720116.2:c.979_980del, XM_006720116.1:c.979_980del, XR_245681.5:n.1128CT[1], XR_245681.4:n.1140CT[1], XR_245681.3:n.1193CT[1], XR_245681.2:n.1193CT[1], XR_245681.1:n.1193CT[1], XM_005267534.4:c.979_980del, XM_005267534.3:c.979_980del, XM_005267534.2:c.979_980del, XM_005267534.1:c.979_980del, XM_017021219.3:c.979_980del, XM_017021219.2:c.979_980del, XM_017021219.1:c.979_980del, XR_001750225.3:n.1128CT[1], XR_001750225.2:n.1140CT[1], XR_001750225.1:n.1193CT[1], XM_024449538.2:c.979_980del, XM_024449538.1:c.979_980del, XM_047431265.1:c.979_980del, XR_007064004.1:n.1128CT[1], XR_007064005.1:n.1128CT[1], XM_047431266.1:c.979_980del, XM_047431267.1:c.979_980del, XM_047431268.1:c.979_980del, XM_047431269.1:c.979_980del, NP_055196.2:p.Leu327fs, NP_001035197.1:p.Leu327fs, XP_005267589.1:p.Leu327fs, XP_005267590.1:p.Leu327fs, XP_006720179.1:p.Leu327fs, XP_005267591.1:p.Leu327fs, XP_016876708.1:p.Leu327fs, XP_024305306.1:p.Leu327fs, XP_047287221.1:p.Leu327fs, XP_047287222.1:p.Leu327fs, XP_047287223.1:p.Leu327fs, XP_047287224.1:p.Leu327fs, XP_047287225.1:p.Leu327fs

                      11.

                      rs1483695119 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        G>- [Show Flanks]
                        Chromosome:
                        14:75048112 (GRCh38)
                        14:75514815 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:75048111:GG:G
                        Gene:
                        MLH3 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        GG=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        -=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000014.9:g.75048113del, NC_000014.8:g.75514816del, NG_008649.1:g.8421del, NM_014381.3:c.1544del, NM_014381.2:c.1544del, NM_001040108.2:c.1544del, NM_001040108.1:c.1544del, XM_005267532.6:c.1544del, XM_005267532.5:c.1544del, XM_005267532.4:c.1544del, XM_005267532.3:c.1544del, XM_005267532.2:c.1544del, XM_005267532.1:c.1544del, XM_005267533.6:c.1544del, XM_005267533.5:c.1544del, XM_005267533.4:c.1544del, XM_005267533.3:c.1544del, XM_005267533.2:c.1544del, XM_005267533.1:c.1544del, XM_006720116.5:c.1544del, XM_006720116.4:c.1544del, XM_006720116.3:c.1544del, XM_006720116.2:c.1544del, XM_006720116.1:c.1544del, XR_245681.5:n.1695del, XR_245681.4:n.1707del, XR_245681.3:n.1760del, XR_245681.2:n.1760del, XR_245681.1:n.1760del, XM_005267534.4:c.1544del, XM_005267534.3:c.1544del, XM_005267534.2:c.1544del, XM_005267534.1:c.1544del, XM_017021219.3:c.1544del, XM_017021219.2:c.1544del, XM_017021219.1:c.1544del, XR_001750225.3:n.1695del, XR_001750225.2:n.1707del, XR_001750225.1:n.1760del, XM_024449538.2:c.1544del, XM_024449538.1:c.1544del, XM_047431265.1:c.1544del, XR_007064004.1:n.1695del, XR_007064005.1:n.1695del, XM_047431266.1:c.1544del, XM_047431267.1:c.1544del, XM_047431268.1:c.1544del, XM_047431269.1:c.1544del, NP_055196.2:p.Pro515fs, NP_001035197.1:p.Pro515fs, XP_005267589.1:p.Pro515fs, XP_005267590.1:p.Pro515fs, XP_006720179.1:p.Pro515fs, XP_005267591.1:p.Pro515fs, XP_016876708.1:p.Pro515fs, XP_024305306.1:p.Pro515fs, XP_047287221.1:p.Pro515fs, XP_047287222.1:p.Pro515fs, XP_047287223.1:p.Pro515fs, XP_047287224.1:p.Pro515fs, XP_047287225.1:p.Pro515fs

                        12.

                        rs1483689262 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          14:75049126 (GRCh38)
                          14:75515829 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:75049125:G:A,NC_000014.9:75049125:G:C
                          Gene:
                          MLH3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.0001/1 (ALFA)
                          HGVS:
                          NC_000014.9:g.75049126G>A, NC_000014.9:g.75049126G>C, NC_000014.8:g.75515829G>A, NC_000014.8:g.75515829G>C, NG_008649.1:g.7407C>T, NG_008649.1:g.7407C>G, NM_014381.3:c.530C>T, NM_014381.3:c.530C>G, NM_014381.2:c.530C>T, NM_014381.2:c.530C>G, NM_001040108.2:c.530C>T, NM_001040108.2:c.530C>G, NM_001040108.1:c.530C>T, NM_001040108.1:c.530C>G, XM_005267532.6:c.530C>T, XM_005267532.6:c.530C>G, XM_005267532.5:c.530C>T, XM_005267532.5:c.530C>G, XM_005267532.4:c.530C>T, XM_005267532.4:c.530C>G, XM_005267532.3:c.530C>T, XM_005267532.3:c.530C>G, XM_005267532.2:c.530C>T, XM_005267532.2:c.530C>G, XM_005267532.1:c.530C>T, XM_005267532.1:c.530C>G, XM_005267533.6:c.530C>T, XM_005267533.6:c.530C>G, XM_005267533.5:c.530C>T, XM_005267533.5:c.530C>G, XM_005267533.4:c.530C>T, XM_005267533.4:c.530C>G, XM_005267533.3:c.530C>T, XM_005267533.3:c.530C>G, XM_005267533.2:c.530C>T, XM_005267533.2:c.530C>G, XM_005267533.1:c.530C>T, XM_005267533.1:c.530C>G, XM_006720116.5:c.530C>T, XM_006720116.5:c.530C>G, XM_006720116.4:c.530C>T, XM_006720116.4:c.530C>G, XM_006720116.3:c.530C>T, XM_006720116.3:c.530C>G, XM_006720116.2:c.530C>T, XM_006720116.2:c.530C>G, XM_006720116.1:c.530C>T, XM_006720116.1:c.530C>G, XR_245681.5:n.681C>T, XR_245681.5:n.681C>G, XR_245681.4:n.693C>T, XR_245681.4:n.693C>G, XR_245681.3:n.746C>T, XR_245681.3:n.746C>G, XR_245681.2:n.746C>T, XR_245681.2:n.746C>G, XR_245681.1:n.746C>T, XR_245681.1:n.746C>G, XM_005267534.4:c.530C>T, XM_005267534.4:c.530C>G, XM_005267534.3:c.530C>T, XM_005267534.3:c.530C>G, XM_005267534.2:c.530C>T, XM_005267534.2:c.530C>G, XM_005267534.1:c.530C>T, XM_005267534.1:c.530C>G, XM_017021219.3:c.530C>T, XM_017021219.3:c.530C>G, XM_017021219.2:c.530C>T, XM_017021219.2:c.530C>G, XM_017021219.1:c.530C>T, XM_017021219.1:c.530C>G, XR_001750225.3:n.681C>T, XR_001750225.3:n.681C>G, XR_001750225.2:n.693C>T, XR_001750225.2:n.693C>G, XR_001750225.1:n.746C>T, XR_001750225.1:n.746C>G, XM_024449538.2:c.530C>T, XM_024449538.2:c.530C>G, XM_024449538.1:c.530C>T, XM_024449538.1:c.530C>G, XM_047431265.1:c.530C>T, XM_047431265.1:c.530C>G, XR_007064004.1:n.681C>T, XR_007064004.1:n.681C>G, XR_007064005.1:n.681C>T, XR_007064005.1:n.681C>G, XM_047431266.1:c.530C>T, XM_047431266.1:c.530C>G, XM_047431267.1:c.530C>T, XM_047431267.1:c.530C>G, XM_047431268.1:c.530C>T, XM_047431268.1:c.530C>G, XM_047431269.1:c.530C>T, XM_047431269.1:c.530C>G, NP_055196.2:p.Ala177Val, NP_055196.2:p.Ala177Gly, NP_001035197.1:p.Ala177Val, NP_001035197.1:p.Ala177Gly, XP_005267589.1:p.Ala177Val, XP_005267589.1:p.Ala177Gly, XP_005267590.1:p.Ala177Val, XP_005267590.1:p.Ala177Gly, XP_006720179.1:p.Ala177Val, XP_006720179.1:p.Ala177Gly, XP_005267591.1:p.Ala177Val, XP_005267591.1:p.Ala177Gly, XP_016876708.1:p.Ala177Val, XP_016876708.1:p.Ala177Gly, XP_024305306.1:p.Ala177Val, XP_024305306.1:p.Ala177Gly, XP_047287221.1:p.Ala177Val, XP_047287221.1:p.Ala177Gly, XP_047287222.1:p.Ala177Val, XP_047287222.1:p.Ala177Gly, XP_047287223.1:p.Ala177Val, XP_047287223.1:p.Ala177Gly, XP_047287224.1:p.Ala177Val, XP_047287224.1:p.Ala177Gly, XP_047287225.1:p.Ala177Val, XP_047287225.1:p.Ala177Gly

                          13.

                          rs1482361507 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A,C [Show Flanks]
                            Chromosome:
                            14:75041700 (GRCh38)
                            14:75508403 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:75041699:T:A,NC_000014.9:75041699:T:C
                            Gene:
                            MLH3 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,non_coding_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000014.9:g.75041700T>A, NC_000014.9:g.75041700T>C, NC_000014.8:g.75508403T>A, NC_000014.8:g.75508403T>C, NG_008649.1:g.14833A>T, NG_008649.1:g.14833A>G, NM_014381.3:c.3380A>T, NM_014381.3:c.3380A>G, NM_014381.2:c.3380A>T, NM_014381.2:c.3380A>G, NM_001040108.2:c.3380A>T, NM_001040108.2:c.3380A>G, NM_001040108.1:c.3380A>T, NM_001040108.1:c.3380A>G, XM_005267532.6:c.3380A>T, XM_005267532.6:c.3380A>G, XM_005267532.5:c.3380A>T, XM_005267532.5:c.3380A>G, XM_005267532.4:c.3380A>T, XM_005267532.4:c.3380A>G, XM_005267532.3:c.3380A>T, XM_005267532.3:c.3380A>G, XM_005267532.2:c.3380A>T, XM_005267532.2:c.3380A>G, XM_005267532.1:c.3380A>T, XM_005267532.1:c.3380A>G, XM_005267533.6:c.3380A>T, XM_005267533.6:c.3380A>G, XM_005267533.5:c.3380A>T, XM_005267533.5:c.3380A>G, XM_005267533.4:c.3380A>T, XM_005267533.4:c.3380A>G, XM_005267533.3:c.3380A>T, XM_005267533.3:c.3380A>G, XM_005267533.2:c.3380A>T, XM_005267533.2:c.3380A>G, XM_005267533.1:c.3380A>T, XM_005267533.1:c.3380A>G, XM_006720116.5:c.3380A>T, XM_006720116.5:c.3380A>G, XM_006720116.4:c.3380A>T, XM_006720116.4:c.3380A>G, XM_006720116.3:c.3380A>T, XM_006720116.3:c.3380A>G, XM_006720116.2:c.3380A>T, XM_006720116.2:c.3380A>G, XM_006720116.1:c.3380A>T, XM_006720116.1:c.3380A>G, XR_245681.5:n.3531A>T, XR_245681.5:n.3531A>G, XR_245681.4:n.3543A>T, XR_245681.4:n.3543A>G, XR_245681.3:n.3596A>T, XR_245681.3:n.3596A>G, XR_245681.2:n.3596A>T, XR_245681.2:n.3596A>G, XR_245681.1:n.3596A>T, XR_245681.1:n.3596A>G, XM_005267534.4:c.3380A>T, XM_005267534.4:c.3380A>G, XM_005267534.3:c.3380A>T, XM_005267534.3:c.3380A>G, XM_005267534.2:c.3380A>T, XM_005267534.2:c.3380A>G, XM_005267534.1:c.3380A>T, XM_005267534.1:c.3380A>G, XM_017021219.3:c.3380A>T, XM_017021219.3:c.3380A>G, XM_017021219.2:c.3380A>T, XM_017021219.2:c.3380A>G, XM_017021219.1:c.3380A>T, XM_017021219.1:c.3380A>G, XR_001750225.3:n.3531A>T, XR_001750225.3:n.3531A>G, XR_001750225.2:n.3543A>T, XR_001750225.2:n.3543A>G, XR_001750225.1:n.3596A>T, XR_001750225.1:n.3596A>G, XM_024449538.2:c.3380A>T, XM_024449538.2:c.3380A>G, XM_024449538.1:c.3380A>T, XM_024449538.1:c.3380A>G, XM_047431265.1:c.3380A>T, XM_047431265.1:c.3380A>G, XR_007064004.1:n.3531A>T, XR_007064004.1:n.3531A>G, XR_007064005.1:n.3531A>T, XR_007064005.1:n.3531A>G, XM_047431266.1:c.3380A>T, XM_047431266.1:c.3380A>G, XM_047431267.1:c.3380A>T, XM_047431267.1:c.3380A>G, XM_047431268.1:c.3380A>T, XM_047431268.1:c.3380A>G, XM_047431269.1:c.3380A>T, XM_047431269.1:c.3380A>G, NP_055196.2:p.Asp1127Val, NP_055196.2:p.Asp1127Gly, NP_001035197.1:p.Asp1127Val, NP_001035197.1:p.Asp1127Gly, XP_005267589.1:p.Asp1127Val, XP_005267589.1:p.Asp1127Gly, XP_005267590.1:p.Asp1127Val, XP_005267590.1:p.Asp1127Gly, XP_006720179.1:p.Asp1127Val, XP_006720179.1:p.Asp1127Gly, XP_005267591.1:p.Asp1127Val, XP_005267591.1:p.Asp1127Gly, XP_016876708.1:p.Asp1127Val, XP_016876708.1:p.Asp1127Gly, XP_024305306.1:p.Asp1127Val, XP_024305306.1:p.Asp1127Gly, XP_047287221.1:p.Asp1127Val, XP_047287221.1:p.Asp1127Gly, XP_047287222.1:p.Asp1127Val, XP_047287222.1:p.Asp1127Gly, XP_047287223.1:p.Asp1127Val, XP_047287223.1:p.Asp1127Gly, XP_047287224.1:p.Asp1127Val, XP_047287224.1:p.Asp1127Gly, XP_047287225.1:p.Asp1127Val, XP_047287225.1:p.Asp1127Gly

                            14.

                            rs1482097875 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              14:75046505 (GRCh38)
                              14:75513208 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:75046504:C:A,NC_000014.9:75046504:C:T
                              Gene:
                              MLH3 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000014.9:g.75046505C>A, NC_000014.9:g.75046505C>T, NC_000014.8:g.75513208C>A, NC_000014.8:g.75513208C>T, NG_008649.1:g.10028G>T, NG_008649.1:g.10028G>A, NM_014381.3:c.3151G>T, NM_014381.3:c.3151G>A, NM_014381.2:c.3151G>T, NM_014381.2:c.3151G>A, NM_001040108.2:c.3151G>T, NM_001040108.2:c.3151G>A, NM_001040108.1:c.3151G>T, NM_001040108.1:c.3151G>A, XM_005267532.6:c.3151G>T, XM_005267532.6:c.3151G>A, XM_005267532.5:c.3151G>T, XM_005267532.5:c.3151G>A, XM_005267532.4:c.3151G>T, XM_005267532.4:c.3151G>A, XM_005267532.3:c.3151G>T, XM_005267532.3:c.3151G>A, XM_005267532.2:c.3151G>T, XM_005267532.2:c.3151G>A, XM_005267532.1:c.3151G>T, XM_005267532.1:c.3151G>A, XM_005267533.6:c.3151G>T, XM_005267533.6:c.3151G>A, XM_005267533.5:c.3151G>T, XM_005267533.5:c.3151G>A, XM_005267533.4:c.3151G>T, XM_005267533.4:c.3151G>A, XM_005267533.3:c.3151G>T, XM_005267533.3:c.3151G>A, XM_005267533.2:c.3151G>T, XM_005267533.2:c.3151G>A, XM_005267533.1:c.3151G>T, XM_005267533.1:c.3151G>A, XM_006720116.5:c.3151G>T, XM_006720116.5:c.3151G>A, XM_006720116.4:c.3151G>T, XM_006720116.4:c.3151G>A, XM_006720116.3:c.3151G>T, XM_006720116.3:c.3151G>A, XM_006720116.2:c.3151G>T, XM_006720116.2:c.3151G>A, XM_006720116.1:c.3151G>T, XM_006720116.1:c.3151G>A, XR_245681.5:n.3302G>T, XR_245681.5:n.3302G>A, XR_245681.4:n.3314G>T, XR_245681.4:n.3314G>A, XR_245681.3:n.3367G>T, XR_245681.3:n.3367G>A, XR_245681.2:n.3367G>T, XR_245681.2:n.3367G>A, XR_245681.1:n.3367G>T, XR_245681.1:n.3367G>A, XM_005267534.4:c.3151G>T, XM_005267534.4:c.3151G>A, XM_005267534.3:c.3151G>T, XM_005267534.3:c.3151G>A, XM_005267534.2:c.3151G>T, XM_005267534.2:c.3151G>A, XM_005267534.1:c.3151G>T, XM_005267534.1:c.3151G>A, XM_017021219.3:c.3151G>T, XM_017021219.3:c.3151G>A, XM_017021219.2:c.3151G>T, XM_017021219.2:c.3151G>A, XM_017021219.1:c.3151G>T, XM_017021219.1:c.3151G>A, XR_001750225.3:n.3302G>T, XR_001750225.3:n.3302G>A, XR_001750225.2:n.3314G>T, XR_001750225.2:n.3314G>A, XR_001750225.1:n.3367G>T, XR_001750225.1:n.3367G>A, XM_024449538.2:c.3151G>T, XM_024449538.2:c.3151G>A, XM_024449538.1:c.3151G>T, XM_024449538.1:c.3151G>A, XM_047431265.1:c.3151G>T, XM_047431265.1:c.3151G>A, XR_007064004.1:n.3302G>T, XR_007064004.1:n.3302G>A, XR_007064005.1:n.3302G>T, XR_007064005.1:n.3302G>A, XM_047431266.1:c.3151G>T, XM_047431266.1:c.3151G>A, XM_047431267.1:c.3151G>T, XM_047431267.1:c.3151G>A, XM_047431268.1:c.3151G>T, XM_047431268.1:c.3151G>A, XM_047431269.1:c.3151G>T, XM_047431269.1:c.3151G>A, NP_055196.2:p.Ala1051Ser, NP_055196.2:p.Ala1051Thr, NP_001035197.1:p.Ala1051Ser, NP_001035197.1:p.Ala1051Thr, XP_005267589.1:p.Ala1051Ser, XP_005267589.1:p.Ala1051Thr, XP_005267590.1:p.Ala1051Ser, XP_005267590.1:p.Ala1051Thr, XP_006720179.1:p.Ala1051Ser, XP_006720179.1:p.Ala1051Thr, XP_005267591.1:p.Ala1051Ser, XP_005267591.1:p.Ala1051Thr, XP_016876708.1:p.Ala1051Ser, XP_016876708.1:p.Ala1051Thr, XP_024305306.1:p.Ala1051Ser, XP_024305306.1:p.Ala1051Thr, XP_047287221.1:p.Ala1051Ser, XP_047287221.1:p.Ala1051Thr, XP_047287222.1:p.Ala1051Ser, XP_047287222.1:p.Ala1051Thr, XP_047287223.1:p.Ala1051Ser, XP_047287223.1:p.Ala1051Thr, XP_047287224.1:p.Ala1051Ser, XP_047287224.1:p.Ala1051Thr, XP_047287225.1:p.Ala1051Ser, XP_047287225.1:p.Ala1051Thr

                              15.

                              rs1480617936 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                14:75047940 (GRCh38)
                                14:75514643 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:75047939:C:A,NC_000014.9:75047939:C:T
                                Gene:
                                MLH3 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,stop_gained,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000014.9:g.75047940C>A, NC_000014.9:g.75047940C>T, NC_000014.8:g.75514643C>A, NC_000014.8:g.75514643C>T, NG_008649.1:g.8593G>T, NG_008649.1:g.8593G>A, NM_014381.3:c.1716G>T, NM_014381.3:c.1716G>A, NM_014381.2:c.1716G>T, NM_014381.2:c.1716G>A, NM_001040108.2:c.1716G>T, NM_001040108.2:c.1716G>A, NM_001040108.1:c.1716G>T, NM_001040108.1:c.1716G>A, XM_005267532.6:c.1716G>T, XM_005267532.6:c.1716G>A, XM_005267532.5:c.1716G>T, XM_005267532.5:c.1716G>A, XM_005267532.4:c.1716G>T, XM_005267532.4:c.1716G>A, XM_005267532.3:c.1716G>T, XM_005267532.3:c.1716G>A, XM_005267532.2:c.1716G>T, XM_005267532.2:c.1716G>A, XM_005267532.1:c.1716G>T, XM_005267532.1:c.1716G>A, XM_005267533.6:c.1716G>T, XM_005267533.6:c.1716G>A, XM_005267533.5:c.1716G>T, XM_005267533.5:c.1716G>A, XM_005267533.4:c.1716G>T, XM_005267533.4:c.1716G>A, XM_005267533.3:c.1716G>T, XM_005267533.3:c.1716G>A, XM_005267533.2:c.1716G>T, XM_005267533.2:c.1716G>A, XM_005267533.1:c.1716G>T, XM_005267533.1:c.1716G>A, XM_006720116.5:c.1716G>T, XM_006720116.5:c.1716G>A, XM_006720116.4:c.1716G>T, XM_006720116.4:c.1716G>A, XM_006720116.3:c.1716G>T, XM_006720116.3:c.1716G>A, XM_006720116.2:c.1716G>T, XM_006720116.2:c.1716G>A, XM_006720116.1:c.1716G>T, XM_006720116.1:c.1716G>A, XR_245681.5:n.1867G>T, XR_245681.5:n.1867G>A, XR_245681.4:n.1879G>T, XR_245681.4:n.1879G>A, XR_245681.3:n.1932G>T, XR_245681.3:n.1932G>A, XR_245681.2:n.1932G>T, XR_245681.2:n.1932G>A, XR_245681.1:n.1932G>T, XR_245681.1:n.1932G>A, XM_005267534.4:c.1716G>T, XM_005267534.4:c.1716G>A, XM_005267534.3:c.1716G>T, XM_005267534.3:c.1716G>A, XM_005267534.2:c.1716G>T, XM_005267534.2:c.1716G>A, XM_005267534.1:c.1716G>T, XM_005267534.1:c.1716G>A, XM_017021219.3:c.1716G>T, XM_017021219.3:c.1716G>A, XM_017021219.2:c.1716G>T, XM_017021219.2:c.1716G>A, XM_017021219.1:c.1716G>T, XM_017021219.1:c.1716G>A, XR_001750225.3:n.1867G>T, XR_001750225.3:n.1867G>A, XR_001750225.2:n.1879G>T, XR_001750225.2:n.1879G>A, XR_001750225.1:n.1932G>T, XR_001750225.1:n.1932G>A, XM_024449538.2:c.1716G>T, XM_024449538.2:c.1716G>A, XM_024449538.1:c.1716G>T, XM_024449538.1:c.1716G>A, XM_047431265.1:c.1716G>T, XM_047431265.1:c.1716G>A, XR_007064004.1:n.1867G>T, XR_007064004.1:n.1867G>A, XR_007064005.1:n.1867G>T, XR_007064005.1:n.1867G>A, XM_047431266.1:c.1716G>T, XM_047431266.1:c.1716G>A, XM_047431267.1:c.1716G>T, XM_047431267.1:c.1716G>A, XM_047431268.1:c.1716G>T, XM_047431268.1:c.1716G>A, XM_047431269.1:c.1716G>T, XM_047431269.1:c.1716G>A, NP_055196.2:p.Trp572Cys, NP_055196.2:p.Trp572Ter, NP_001035197.1:p.Trp572Cys, NP_001035197.1:p.Trp572Ter, XP_005267589.1:p.Trp572Cys, XP_005267589.1:p.Trp572Ter, XP_005267590.1:p.Trp572Cys, XP_005267590.1:p.Trp572Ter, XP_006720179.1:p.Trp572Cys, XP_006720179.1:p.Trp572Ter, XP_005267591.1:p.Trp572Cys, XP_005267591.1:p.Trp572Ter, XP_016876708.1:p.Trp572Cys, XP_016876708.1:p.Trp572Ter, XP_024305306.1:p.Trp572Cys, XP_024305306.1:p.Trp572Ter, XP_047287221.1:p.Trp572Cys, XP_047287221.1:p.Trp572Ter, XP_047287222.1:p.Trp572Cys, XP_047287222.1:p.Trp572Ter, XP_047287223.1:p.Trp572Cys, XP_047287223.1:p.Trp572Ter, XP_047287224.1:p.Trp572Cys, XP_047287224.1:p.Trp572Ter, XP_047287225.1:p.Trp572Cys, XP_047287225.1:p.Trp572Ter

                                16.

                                rs1480412337 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  14:75049362 (GRCh38)
                                  14:75516065 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:75049361:T:C
                                  Gene:
                                  MLH3 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000015/4 (TOPMED)
                                  HGVS:
                                  NC_000014.9:g.75049362T>C, NC_000014.8:g.75516065T>C, NG_008649.1:g.7171A>G, NM_014381.3:c.294A>G, NM_014381.2:c.294A>G, NM_001040108.2:c.294A>G, NM_001040108.1:c.294A>G, XM_005267532.6:c.294A>G, XM_005267532.5:c.294A>G, XM_005267532.4:c.294A>G, XM_005267532.3:c.294A>G, XM_005267532.2:c.294A>G, XM_005267532.1:c.294A>G, XM_005267533.6:c.294A>G, XM_005267533.5:c.294A>G, XM_005267533.4:c.294A>G, XM_005267533.3:c.294A>G, XM_005267533.2:c.294A>G, XM_005267533.1:c.294A>G, XM_006720116.5:c.294A>G, XM_006720116.4:c.294A>G, XM_006720116.3:c.294A>G, XM_006720116.2:c.294A>G, XM_006720116.1:c.294A>G, XR_245681.5:n.445A>G, XR_245681.4:n.457A>G, XR_245681.3:n.510A>G, XR_245681.2:n.510A>G, XR_245681.1:n.510A>G, XM_005267534.4:c.294A>G, XM_005267534.3:c.294A>G, XM_005267534.2:c.294A>G, XM_005267534.1:c.294A>G, XM_017021219.3:c.294A>G, XM_017021219.2:c.294A>G, XM_017021219.1:c.294A>G, XR_001750225.3:n.445A>G, XR_001750225.2:n.457A>G, XR_001750225.1:n.510A>G, XM_024449538.2:c.294A>G, XM_024449538.1:c.294A>G, XM_047431265.1:c.294A>G, XR_007064004.1:n.445A>G, XR_007064005.1:n.445A>G, XM_047431266.1:c.294A>G, XM_047431267.1:c.294A>G, XM_047431268.1:c.294A>G, XM_047431269.1:c.294A>G

                                  17.

                                  rs1480199553 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    14:75046588 (GRCh38)
                                    14:75513291 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:75046587:C:T
                                    Gene:
                                    MLH3 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                    Clinical significance:
                                    uncertain-significance
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000014.9:g.75046588C>T, NC_000014.8:g.75513291C>T, NG_008649.1:g.9945G>A, NM_014381.3:c.3068G>A, NM_014381.2:c.3068G>A, NM_001040108.2:c.3068G>A, NM_001040108.1:c.3068G>A, XM_005267532.6:c.3068G>A, XM_005267532.5:c.3068G>A, XM_005267532.4:c.3068G>A, XM_005267532.3:c.3068G>A, XM_005267532.2:c.3068G>A, XM_005267532.1:c.3068G>A, XM_005267533.6:c.3068G>A, XM_005267533.5:c.3068G>A, XM_005267533.4:c.3068G>A, XM_005267533.3:c.3068G>A, XM_005267533.2:c.3068G>A, XM_005267533.1:c.3068G>A, XM_006720116.5:c.3068G>A, XM_006720116.4:c.3068G>A, XM_006720116.3:c.3068G>A, XM_006720116.2:c.3068G>A, XM_006720116.1:c.3068G>A, XR_245681.5:n.3219G>A, XR_245681.4:n.3231G>A, XR_245681.3:n.3284G>A, XR_245681.2:n.3284G>A, XR_245681.1:n.3284G>A, XM_005267534.4:c.3068G>A, XM_005267534.3:c.3068G>A, XM_005267534.2:c.3068G>A, XM_005267534.1:c.3068G>A, XM_017021219.3:c.3068G>A, XM_017021219.2:c.3068G>A, XM_017021219.1:c.3068G>A, XR_001750225.3:n.3219G>A, XR_001750225.2:n.3231G>A, XR_001750225.1:n.3284G>A, XM_024449538.2:c.3068G>A, XM_024449538.1:c.3068G>A, XM_047431265.1:c.3068G>A, XR_007064004.1:n.3219G>A, XR_007064005.1:n.3219G>A, XM_047431266.1:c.3068G>A, XM_047431267.1:c.3068G>A, XM_047431268.1:c.3068G>A, XM_047431269.1:c.3068G>A, NP_055196.2:p.Ser1023Asn, NP_001035197.1:p.Ser1023Asn, XP_005267589.1:p.Ser1023Asn, XP_005267590.1:p.Ser1023Asn, XP_006720179.1:p.Ser1023Asn, XP_005267591.1:p.Ser1023Asn, XP_016876708.1:p.Ser1023Asn, XP_024305306.1:p.Ser1023Asn, XP_047287221.1:p.Ser1023Asn, XP_047287222.1:p.Ser1023Asn, XP_047287223.1:p.Ser1023Asn, XP_047287224.1:p.Ser1023Asn, XP_047287225.1:p.Ser1023Asn

                                    18.

                                    rs1480052209 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      14:75049548 (GRCh38)
                                      14:75516251 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:75049547:A:G
                                      Gene:
                                      MLH3 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0.000111/1 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000014.9:g.75049548A>G, NC_000014.8:g.75516251A>G, NG_008649.1:g.6985T>C, NM_014381.3:c.108T>C, NM_014381.2:c.108T>C, NM_001040108.2:c.108T>C, NM_001040108.1:c.108T>C, XM_005267532.6:c.108T>C, XM_005267532.5:c.108T>C, XM_005267532.4:c.108T>C, XM_005267532.3:c.108T>C, XM_005267532.2:c.108T>C, XM_005267532.1:c.108T>C, XM_005267533.6:c.108T>C, XM_005267533.5:c.108T>C, XM_005267533.4:c.108T>C, XM_005267533.3:c.108T>C, XM_005267533.2:c.108T>C, XM_005267533.1:c.108T>C, XM_006720116.5:c.108T>C, XM_006720116.4:c.108T>C, XM_006720116.3:c.108T>C, XM_006720116.2:c.108T>C, XM_006720116.1:c.108T>C, XR_245681.5:n.259T>C, XR_245681.4:n.271T>C, XR_245681.3:n.324T>C, XR_245681.2:n.324T>C, XR_245681.1:n.324T>C, XM_005267534.4:c.108T>C, XM_005267534.3:c.108T>C, XM_005267534.2:c.108T>C, XM_005267534.1:c.108T>C, XM_017021219.3:c.108T>C, XM_017021219.2:c.108T>C, XM_017021219.1:c.108T>C, XR_001750225.3:n.259T>C, XR_001750225.2:n.271T>C, XR_001750225.1:n.324T>C, XM_024449538.2:c.108T>C, XM_024449538.1:c.108T>C, XM_047431265.1:c.108T>C, XR_007064004.1:n.259T>C, XR_007064005.1:n.259T>C, XM_047431266.1:c.108T>C, XM_047431267.1:c.108T>C, XM_047431268.1:c.108T>C, XM_047431269.1:c.108T>C

                                      19.

                                      rs1479954154 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        14:75047920 (GRCh38)
                                        14:75514623 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:75047919:G:A,NC_000014.9:75047919:G:C
                                        Gene:
                                        MLH3 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                        Clinical significance:
                                        uncertain-significance
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000056/2 (ALFA)
                                        A=0.000011/3 (TOPMED)
                                        A=0.000012/3 (GnomAD_exomes)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000014.9:g.75047920G>A, NC_000014.9:g.75047920G>C, NC_000014.8:g.75514623G>A, NC_000014.8:g.75514623G>C, NG_008649.1:g.8613C>T, NG_008649.1:g.8613C>G, NM_014381.3:c.1736C>T, NM_014381.3:c.1736C>G, NM_014381.2:c.1736C>T, NM_014381.2:c.1736C>G, NM_001040108.2:c.1736C>T, NM_001040108.2:c.1736C>G, NM_001040108.1:c.1736C>T, NM_001040108.1:c.1736C>G, XM_005267532.6:c.1736C>T, XM_005267532.6:c.1736C>G, XM_005267532.5:c.1736C>T, XM_005267532.5:c.1736C>G, XM_005267532.4:c.1736C>T, XM_005267532.4:c.1736C>G, XM_005267532.3:c.1736C>T, XM_005267532.3:c.1736C>G, XM_005267532.2:c.1736C>T, XM_005267532.2:c.1736C>G, XM_005267532.1:c.1736C>T, XM_005267532.1:c.1736C>G, XM_005267533.6:c.1736C>T, XM_005267533.6:c.1736C>G, XM_005267533.5:c.1736C>T, XM_005267533.5:c.1736C>G, XM_005267533.4:c.1736C>T, XM_005267533.4:c.1736C>G, XM_005267533.3:c.1736C>T, XM_005267533.3:c.1736C>G, XM_005267533.2:c.1736C>T, XM_005267533.2:c.1736C>G, XM_005267533.1:c.1736C>T, XM_005267533.1:c.1736C>G, XM_006720116.5:c.1736C>T, XM_006720116.5:c.1736C>G, XM_006720116.4:c.1736C>T, XM_006720116.4:c.1736C>G, XM_006720116.3:c.1736C>T, XM_006720116.3:c.1736C>G, XM_006720116.2:c.1736C>T, XM_006720116.2:c.1736C>G, XM_006720116.1:c.1736C>T, XM_006720116.1:c.1736C>G, XR_245681.5:n.1887C>T, XR_245681.5:n.1887C>G, XR_245681.4:n.1899C>T, XR_245681.4:n.1899C>G, XR_245681.3:n.1952C>T, XR_245681.3:n.1952C>G, XR_245681.2:n.1952C>T, XR_245681.2:n.1952C>G, XR_245681.1:n.1952C>T, XR_245681.1:n.1952C>G, XM_005267534.4:c.1736C>T, XM_005267534.4:c.1736C>G, XM_005267534.3:c.1736C>T, XM_005267534.3:c.1736C>G, XM_005267534.2:c.1736C>T, XM_005267534.2:c.1736C>G, XM_005267534.1:c.1736C>T, XM_005267534.1:c.1736C>G, XM_017021219.3:c.1736C>T, XM_017021219.3:c.1736C>G, XM_017021219.2:c.1736C>T, XM_017021219.2:c.1736C>G, XM_017021219.1:c.1736C>T, XM_017021219.1:c.1736C>G, XR_001750225.3:n.1887C>T, XR_001750225.3:n.1887C>G, XR_001750225.2:n.1899C>T, XR_001750225.2:n.1899C>G, XR_001750225.1:n.1952C>T, XR_001750225.1:n.1952C>G, XM_024449538.2:c.1736C>T, XM_024449538.2:c.1736C>G, XM_024449538.1:c.1736C>T, XM_024449538.1:c.1736C>G, XM_047431265.1:c.1736C>T, XM_047431265.1:c.1736C>G, XR_007064004.1:n.1887C>T, XR_007064004.1:n.1887C>G, XR_007064005.1:n.1887C>T, XR_007064005.1:n.1887C>G, XM_047431266.1:c.1736C>T, XM_047431266.1:c.1736C>G, XM_047431267.1:c.1736C>T, XM_047431267.1:c.1736C>G, XM_047431268.1:c.1736C>T, XM_047431268.1:c.1736C>G, XM_047431269.1:c.1736C>T, XM_047431269.1:c.1736C>G, NP_055196.2:p.Thr579Ile, NP_055196.2:p.Thr579Arg, NP_001035197.1:p.Thr579Ile, NP_001035197.1:p.Thr579Arg, XP_005267589.1:p.Thr579Ile, XP_005267589.1:p.Thr579Arg, XP_005267590.1:p.Thr579Ile, XP_005267590.1:p.Thr579Arg, XP_006720179.1:p.Thr579Ile, XP_006720179.1:p.Thr579Arg, XP_005267591.1:p.Thr579Ile, XP_005267591.1:p.Thr579Arg, XP_016876708.1:p.Thr579Ile, XP_016876708.1:p.Thr579Arg, XP_024305306.1:p.Thr579Ile, XP_024305306.1:p.Thr579Arg, XP_047287221.1:p.Thr579Ile, XP_047287221.1:p.Thr579Arg, XP_047287222.1:p.Thr579Ile, XP_047287222.1:p.Thr579Arg, XP_047287223.1:p.Thr579Ile, XP_047287223.1:p.Thr579Arg, XP_047287224.1:p.Thr579Ile, XP_047287224.1:p.Thr579Arg, XP_047287225.1:p.Thr579Ile, XP_047287225.1:p.Thr579Arg

                                        20.

                                        rs1479636962 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          14:75048303 (GRCh38)
                                          14:75515006 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:75048302:G:C
                                          Gene:
                                          MLH3 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (GnomAD_exomes)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000014.9:g.75048303G>C, NC_000014.8:g.75515006G>C, NG_008649.1:g.8230C>G, NM_014381.3:c.1353C>G, NM_014381.2:c.1353C>G, NM_001040108.2:c.1353C>G, NM_001040108.1:c.1353C>G, XM_005267532.6:c.1353C>G, XM_005267532.5:c.1353C>G, XM_005267532.4:c.1353C>G, XM_005267532.3:c.1353C>G, XM_005267532.2:c.1353C>G, XM_005267532.1:c.1353C>G, XM_005267533.6:c.1353C>G, XM_005267533.5:c.1353C>G, XM_005267533.4:c.1353C>G, XM_005267533.3:c.1353C>G, XM_005267533.2:c.1353C>G, XM_005267533.1:c.1353C>G, XM_006720116.5:c.1353C>G, XM_006720116.4:c.1353C>G, XM_006720116.3:c.1353C>G, XM_006720116.2:c.1353C>G, XM_006720116.1:c.1353C>G, XR_245681.5:n.1504C>G, XR_245681.4:n.1516C>G, XR_245681.3:n.1569C>G, XR_245681.2:n.1569C>G, XR_245681.1:n.1569C>G, XM_005267534.4:c.1353C>G, XM_005267534.3:c.1353C>G, XM_005267534.2:c.1353C>G, XM_005267534.1:c.1353C>G, XM_017021219.3:c.1353C>G, XM_017021219.2:c.1353C>G, XM_017021219.1:c.1353C>G, XR_001750225.3:n.1504C>G, XR_001750225.2:n.1516C>G, XR_001750225.1:n.1569C>G, XM_024449538.2:c.1353C>G, XM_024449538.1:c.1353C>G, XM_047431265.1:c.1353C>G, XR_007064004.1:n.1504C>G, XR_007064005.1:n.1504C>G, XM_047431266.1:c.1353C>G, XM_047431267.1:c.1353C>G, XM_047431268.1:c.1353C>G, XM_047431269.1:c.1353C>G, NP_055196.2:p.Ser451Arg, NP_001035197.1:p.Ser451Arg, XP_005267589.1:p.Ser451Arg, XP_005267590.1:p.Ser451Arg, XP_006720179.1:p.Ser451Arg, XP_005267591.1:p.Ser451Arg, XP_016876708.1:p.Ser451Arg, XP_024305306.1:p.Ser451Arg, XP_047287221.1:p.Ser451Arg, XP_047287222.1:p.Ser451Arg, XP_047287223.1:p.Ser451Arg, XP_047287224.1:p.Ser451Arg, XP_047287225.1:p.Ser451Arg

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