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Items: 1 to 20 of 626

1.

rs1489993856 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    6:104796964 (GRCh38)
    6:105244839 (GRCh37)
    Canonical SPDI:
    NC_000006.12:104796963:T:C
    Gene:
    HACE1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    C=0.000004/1 (TOPMED)
    HGVS:
    NC_000006.12:g.104796964T>C, NC_000006.11:g.105244839T>C, NG_046782.1:g.67956A>G, NM_020771.4:c.679A>G, NM_020771.3:c.679A>G, NR_104424.2:n.1050A>G, NR_104424.1:n.1050A>G, NR_146791.2:n.956A>G, NR_146791.1:n.956A>G, NR_146792.2:n.1050A>G, NR_146792.1:n.1050A>G, NR_146790.2:n.956A>G, NR_146790.1:n.956A>G, NR_146788.2:n.967A>G, NR_146788.1:n.967A>G, NR_146789.2:n.956A>G, NR_146789.1:n.956A>G, NM_001350554.2:c.445A>G, NM_001350554.1:c.445A>G, NM_001350556.2:c.193A>G, NM_001350556.1:c.193A>G, NM_001350558.2:c.175A>G, NM_001350558.1:c.175A>G, NM_001321080.2:c.547A>G, NM_001321080.1:c.547A>G, NM_001350557.2:c.175A>G, NM_001350557.1:c.175A>G, NR_146787.2:n.797A>G, NR_146787.1:n.797A>G, NM_001321083.2:c.577A>G, NM_001321083.1:c.577A>G, NM_001350560.2:c.-105A>G, NM_001350560.1:c.-105A>G, NM_001350559.2:c.97A>G, NM_001350559.1:c.97A>G, NM_001321084.2:c.175A>G, NM_001321084.1:c.175A>G, NM_001350555.2:c.388A>G, NM_001350555.1:c.388A>G, NP_065822.2:p.Lys227Glu, NP_001337483.1:p.Lys149Glu, NP_001337485.1:p.Lys65Glu, NP_001337487.1:p.Lys59Glu, NP_001308009.1:p.Lys183Glu, NP_001337486.1:p.Lys59Glu, NP_001308012.1:p.Lys193Glu, NP_001337488.1:p.Lys33Glu, NP_001308013.1:p.Lys59Glu, NP_001337484.1:p.Lys130Glu

    2.

    rs1488166173 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      6:104784086 (GRCh38)
      6:105231961 (GRCh37)
      Canonical SPDI:
      NC_000006.12:104784085:C:T
      Gene:
      HACE1 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0.000047/1 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000006.12:g.104784086C>T, NC_000006.11:g.105231961C>T, NG_046782.1:g.80834G>A, NM_020771.4:c.1566G>A, NM_020771.3:c.1566G>A, NR_104424.2:n.1937G>A, NR_104424.1:n.1937G>A, NR_146791.2:n.1843G>A, NR_146791.1:n.1843G>A, NR_146792.2:n.1937G>A, NR_146792.1:n.1937G>A, NR_146790.2:n.1843G>A, NR_146790.1:n.1843G>A, NR_146788.2:n.1854G>A, NR_146788.1:n.1854G>A, NR_146789.2:n.1843G>A, NR_146789.1:n.1843G>A, NM_001350554.2:c.1332G>A, NM_001350554.1:c.1332G>A, NM_001350556.2:c.1080G>A, NM_001350556.1:c.1080G>A, NM_001350558.2:c.1062G>A, NM_001350558.1:c.1062G>A, NM_001321080.2:c.1434G>A, NM_001321080.1:c.1434G>A, NM_001350557.2:c.1062G>A, NM_001350557.1:c.1062G>A, NR_146787.2:n.1684G>A, NR_146787.1:n.1684G>A, NM_001321083.2:c.1464G>A, NM_001321083.1:c.1464G>A, NM_001350560.2:c.783G>A, NM_001350560.1:c.783G>A, NM_001350559.2:c.984G>A, NM_001350559.1:c.984G>A, NM_001321084.2:c.1062G>A, NM_001321084.1:c.1062G>A, NM_001350555.2:c.1275G>A, NM_001350555.1:c.1275G>A

      3.

      rs1487373016 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        6:104785297 (GRCh38)
        6:105233172 (GRCh37)
        Canonical SPDI:
        NC_000006.12:104785296:G:A
        Gene:
        HACE1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000008/2 (TOPMED)
        HGVS:
        NC_000006.12:g.104785297G>A, NC_000006.11:g.105233172G>A, NG_046782.1:g.79623C>T, NM_020771.4:c.1097C>T, NM_020771.3:c.1097C>T, NR_104424.2:n.1468C>T, NR_104424.1:n.1468C>T, NR_146791.2:n.1374C>T, NR_146791.1:n.1374C>T, NR_146792.2:n.1468C>T, NR_146792.1:n.1468C>T, NR_146790.2:n.1374C>T, NR_146790.1:n.1374C>T, NR_146788.2:n.1385C>T, NR_146788.1:n.1385C>T, NR_146789.2:n.1374C>T, NR_146789.1:n.1374C>T, NM_001350554.2:c.863C>T, NM_001350554.1:c.863C>T, NM_001350556.2:c.611C>T, NM_001350556.1:c.611C>T, NM_001350558.2:c.593C>T, NM_001350558.1:c.593C>T, NM_001321080.2:c.965C>T, NM_001321080.1:c.965C>T, NM_001350557.2:c.593C>T, NM_001350557.1:c.593C>T, NR_146787.2:n.1215C>T, NR_146787.1:n.1215C>T, NM_001321083.2:c.995C>T, NM_001321083.1:c.995C>T, NM_001350560.2:c.314C>T, NM_001350560.1:c.314C>T, NM_001350559.2:c.515C>T, NM_001350559.1:c.515C>T, NM_001321084.2:c.593C>T, NM_001321084.1:c.593C>T, NM_001350555.2:c.806C>T, NM_001350555.1:c.806C>T, NP_065822.2:p.Ser366Leu, NP_001337483.1:p.Ser288Leu, NP_001337485.1:p.Ser204Leu, NP_001337487.1:p.Ser198Leu, NP_001308009.1:p.Ser322Leu, NP_001337486.1:p.Ser198Leu, NP_001308012.1:p.Ser332Leu, NP_001337489.1:p.Ser105Leu, NP_001337488.1:p.Ser172Leu, NP_001308013.1:p.Ser198Leu, NP_001337484.1:p.Ser269Leu

        4.

        rs1487322452 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          6:104784104 (GRCh38)
          6:105231979 (GRCh37)
          Canonical SPDI:
          NC_000006.12:104784103:C:T
          Gene:
          HACE1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000006.12:g.104784104C>T, NC_000006.11:g.105231979C>T, NG_046782.1:g.80816G>A, NM_020771.4:c.1548G>A, NM_020771.3:c.1548G>A, NR_104424.2:n.1919G>A, NR_104424.1:n.1919G>A, NR_146791.2:n.1825G>A, NR_146791.1:n.1825G>A, NR_146792.2:n.1919G>A, NR_146792.1:n.1919G>A, NR_146790.2:n.1825G>A, NR_146790.1:n.1825G>A, NR_146788.2:n.1836G>A, NR_146788.1:n.1836G>A, NR_146789.2:n.1825G>A, NR_146789.1:n.1825G>A, NM_001350554.2:c.1314G>A, NM_001350554.1:c.1314G>A, NM_001350556.2:c.1062G>A, NM_001350556.1:c.1062G>A, NM_001350558.2:c.1044G>A, NM_001350558.1:c.1044G>A, NM_001321080.2:c.1416G>A, NM_001321080.1:c.1416G>A, NM_001350557.2:c.1044G>A, NM_001350557.1:c.1044G>A, NR_146787.2:n.1666G>A, NR_146787.1:n.1666G>A, NM_001321083.2:c.1446G>A, NM_001321083.1:c.1446G>A, NM_001350560.2:c.765G>A, NM_001350560.1:c.765G>A, NM_001350559.2:c.966G>A, NM_001350559.1:c.966G>A, NM_001321084.2:c.1044G>A, NM_001321084.1:c.1044G>A, NM_001350555.2:c.1257G>A, NM_001350555.1:c.1257G>A, NP_065822.2:p.Met516Ile, NP_001337483.1:p.Met438Ile, NP_001337485.1:p.Met354Ile, NP_001337487.1:p.Met348Ile, NP_001308009.1:p.Met472Ile, NP_001337486.1:p.Met348Ile, NP_001308012.1:p.Met482Ile, NP_001337489.1:p.Met255Ile, NP_001337488.1:p.Met322Ile, NP_001308013.1:p.Met348Ile, NP_001337484.1:p.Met419Ile

          5.

          rs1484558365 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            6:104750399 (GRCh38)
            6:105198274 (GRCh37)
            Canonical SPDI:
            NC_000006.12:104750398:T:C
            Gene:
            HACE1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000006.12:g.104750399T>C, NC_000006.11:g.105198274T>C, NG_046782.1:g.114521A>G, NM_020771.4:c.2285A>G, NM_020771.3:c.2285A>G, NR_104424.2:n.2761A>G, NR_104424.1:n.2761A>G, NR_146791.2:n.2667A>G, NR_146791.1:n.2667A>G, NR_146792.2:n.2643A>G, NR_146792.1:n.2643A>G, NR_146790.2:n.2566A>G, NR_146790.1:n.2566A>G, NR_146788.2:n.2560A>G, NR_146788.1:n.2560A>G, NR_146789.2:n.2549A>G, NR_146789.1:n.2549A>G, NM_001350554.2:c.2051A>G, NM_001350554.1:c.2051A>G, NM_001350556.2:c.1799A>G, NM_001350556.1:c.1799A>G, NM_001350558.2:c.1781A>G, NM_001350558.1:c.1781A>G, NM_001321080.2:c.2153A>G, NM_001321080.1:c.2153A>G, NM_001350557.2:c.1781A>G, NM_001350557.1:c.1781A>G, NR_146787.2:n.2390A>G, NR_146787.1:n.2390A>G, NM_001321083.2:c.2183A>G, NM_001321083.1:c.2183A>G, NM_001350560.2:c.1502A>G, NM_001350560.1:c.1502A>G, NM_001350559.2:c.1703A>G, NM_001350559.1:c.1703A>G, NM_001321084.2:c.1781A>G, NM_001321084.1:c.1781A>G, NM_001350555.2:c.1994A>G, NM_001350555.1:c.1994A>G, NP_065822.2:p.Gln762Arg, NP_001337483.1:p.Gln684Arg, NP_001337485.1:p.Gln600Arg, NP_001337487.1:p.Gln594Arg, NP_001308009.1:p.Gln718Arg, NP_001337486.1:p.Gln594Arg, NP_001308012.1:p.Gln728Arg, NP_001337489.1:p.Gln501Arg, NP_001337488.1:p.Gln568Arg, NP_001308013.1:p.Gln594Arg, NP_001337484.1:p.Gln665Arg

            6.

            rs1479367419 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              6:104772023 (GRCh38)
              6:105219898 (GRCh37)
              Canonical SPDI:
              NC_000006.12:104772022:T:C
              Gene:
              HACE1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,non_coding_transcript_variant
              HGVS:
              NC_000006.12:g.104772023T>C, NC_000006.11:g.105219898T>C, NG_046782.1:g.92897A>G, NM_020771.4:c.1916A>G, NM_020771.3:c.1916A>G, NR_104424.2:n.2392A>G, NR_104424.1:n.2392A>G, NR_146791.2:n.2298A>G, NR_146791.1:n.2298A>G, NR_146792.2:n.2274A>G, NR_146792.1:n.2274A>G, NR_146790.2:n.2197A>G, NR_146790.1:n.2197A>G, NR_146788.2:n.2191A>G, NR_146788.1:n.2191A>G, NR_146789.2:n.2180A>G, NR_146789.1:n.2180A>G, NM_001350554.2:c.1682A>G, NM_001350554.1:c.1682A>G, NM_001350556.2:c.1430A>G, NM_001350556.1:c.1430A>G, NM_001350558.2:c.1412A>G, NM_001350558.1:c.1412A>G, NM_001321080.2:c.1784A>G, NM_001321080.1:c.1784A>G, NM_001350557.2:c.1412A>G, NM_001350557.1:c.1412A>G, NR_146787.2:n.2021A>G, NR_146787.1:n.2021A>G, NM_001321083.2:c.1814A>G, NM_001321083.1:c.1814A>G, NM_001350560.2:c.1133A>G, NM_001350560.1:c.1133A>G, NM_001350559.2:c.1334A>G, NM_001350559.1:c.1334A>G, NM_001321084.2:c.1412A>G, NM_001321084.1:c.1412A>G, NM_001350555.2:c.1625A>G, NM_001350555.1:c.1625A>G, NP_065822.2:p.Asn639Ser, NP_001337483.1:p.Asn561Ser, NP_001337485.1:p.Asn477Ser, NP_001337487.1:p.Asn471Ser, NP_001308009.1:p.Asn595Ser, NP_001337486.1:p.Asn471Ser, NP_001308012.1:p.Asn605Ser, NP_001337489.1:p.Asn378Ser, NP_001337488.1:p.Asn445Ser, NP_001308013.1:p.Asn471Ser, NP_001337484.1:p.Asn542Ser

              7.

              rs1478812110 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                6:104795596 (GRCh38)
                6:105243471 (GRCh37)
                Canonical SPDI:
                NC_000006.12:104795595:A:C
                Gene:
                HACE1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by cluster
                MAF:
                C=0./0 (KOREAN)
                C=0.000004/1 (GnomAD_exomes)
                C=0.000248/4 (TOMMO)
                HGVS:
                NC_000006.12:g.104795596A>C, NC_000006.11:g.105243471A>C, NG_046782.1:g.69324T>G, NM_020771.4:c.906T>G, NM_020771.3:c.906T>G, NR_104424.2:n.1277T>G, NR_104424.1:n.1277T>G, NR_146791.2:n.1183T>G, NR_146791.1:n.1183T>G, NR_146792.2:n.1277T>G, NR_146792.1:n.1277T>G, NR_146790.2:n.1183T>G, NR_146790.1:n.1183T>G, NR_146788.2:n.1194T>G, NR_146788.1:n.1194T>G, NR_146789.2:n.1183T>G, NR_146789.1:n.1183T>G, NM_001350554.2:c.672T>G, NM_001350554.1:c.672T>G, NM_001350556.2:c.420T>G, NM_001350556.1:c.420T>G, NM_001350558.2:c.402T>G, NM_001350558.1:c.402T>G, NM_001321080.2:c.774T>G, NM_001321080.1:c.774T>G, NM_001350557.2:c.402T>G, NM_001350557.1:c.402T>G, NR_146787.2:n.1024T>G, NR_146787.1:n.1024T>G, NM_001321083.2:c.804T>G, NM_001321083.1:c.804T>G, NM_001350560.2:c.123T>G, NM_001350560.1:c.123T>G, NM_001350559.2:c.324T>G, NM_001350559.1:c.324T>G, NM_001321084.2:c.402T>G, NM_001321084.1:c.402T>G, NM_001350555.2:c.615T>G, NM_001350555.1:c.615T>G, NP_065822.2:p.Asn302Lys, NP_001337483.1:p.Asn224Lys, NP_001337485.1:p.Asn140Lys, NP_001337487.1:p.Asn134Lys, NP_001308009.1:p.Asn258Lys, NP_001337486.1:p.Asn134Lys, NP_001308012.1:p.Asn268Lys, NP_001337489.1:p.Asn41Lys, NP_001337488.1:p.Asn108Lys, NP_001308013.1:p.Asn134Lys, NP_001337484.1:p.Asn205Lys

                8.

                rs1477330488 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  6:104796972 (GRCh38)
                  6:105244847 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:104796971:A:C
                  Gene:
                  HACE1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0.000047/1 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000006.12:g.104796972A>C, NC_000006.11:g.105244847A>C, NG_046782.1:g.67948T>G, NM_020771.4:c.671T>G, NM_020771.3:c.671T>G, NR_104424.2:n.1042T>G, NR_104424.1:n.1042T>G, NR_146791.2:n.948T>G, NR_146791.1:n.948T>G, NR_146792.2:n.1042T>G, NR_146792.1:n.1042T>G, NR_146790.2:n.948T>G, NR_146790.1:n.948T>G, NR_146788.2:n.959T>G, NR_146788.1:n.959T>G, NR_146789.2:n.948T>G, NR_146789.1:n.948T>G, NM_001350554.2:c.437T>G, NM_001350554.1:c.437T>G, NM_001350556.2:c.185T>G, NM_001350556.1:c.185T>G, NM_001350558.2:c.167T>G, NM_001350558.1:c.167T>G, NM_001321080.2:c.539T>G, NM_001321080.1:c.539T>G, NM_001350557.2:c.167T>G, NM_001350557.1:c.167T>G, NR_146787.2:n.789T>G, NR_146787.1:n.789T>G, NM_001321083.2:c.569T>G, NM_001321083.1:c.569T>G, NM_001350560.2:c.-113T>G, NM_001350560.1:c.-113T>G, NM_001350559.2:c.89T>G, NM_001350559.1:c.89T>G, NM_001321084.2:c.167T>G, NM_001321084.1:c.167T>G, NM_001350555.2:c.380T>G, NM_001350555.1:c.380T>G, NP_065822.2:p.Leu224Arg, NP_001337483.1:p.Leu146Arg, NP_001337485.1:p.Leu62Arg, NP_001337487.1:p.Leu56Arg, NP_001308009.1:p.Leu180Arg, NP_001337486.1:p.Leu56Arg, NP_001308012.1:p.Leu190Arg, NP_001337488.1:p.Leu30Arg, NP_001308013.1:p.Leu56Arg, NP_001337484.1:p.Leu127Arg

                  9.

                  rs1475262407 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    6:104784102 (GRCh38)
                    6:105231977 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:104784101:T:C
                    Gene:
                    HACE1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000006.12:g.104784102T>C, NC_000006.11:g.105231977T>C, NG_046782.1:g.80818A>G, NM_020771.4:c.1550A>G, NM_020771.3:c.1550A>G, NR_104424.2:n.1921A>G, NR_104424.1:n.1921A>G, NR_146791.2:n.1827A>G, NR_146791.1:n.1827A>G, NR_146792.2:n.1921A>G, NR_146792.1:n.1921A>G, NR_146790.2:n.1827A>G, NR_146790.1:n.1827A>G, NR_146788.2:n.1838A>G, NR_146788.1:n.1838A>G, NR_146789.2:n.1827A>G, NR_146789.1:n.1827A>G, NM_001350554.2:c.1316A>G, NM_001350554.1:c.1316A>G, NM_001350556.2:c.1064A>G, NM_001350556.1:c.1064A>G, NM_001350558.2:c.1046A>G, NM_001350558.1:c.1046A>G, NM_001321080.2:c.1418A>G, NM_001321080.1:c.1418A>G, NM_001350557.2:c.1046A>G, NM_001350557.1:c.1046A>G, NR_146787.2:n.1668A>G, NR_146787.1:n.1668A>G, NM_001321083.2:c.1448A>G, NM_001321083.1:c.1448A>G, NM_001350560.2:c.767A>G, NM_001350560.1:c.767A>G, NM_001350559.2:c.968A>G, NM_001350559.1:c.968A>G, NM_001321084.2:c.1046A>G, NM_001321084.1:c.1046A>G, NM_001350555.2:c.1259A>G, NM_001350555.1:c.1259A>G, NP_065822.2:p.His517Arg, NP_001337483.1:p.His439Arg, NP_001337485.1:p.His355Arg, NP_001337487.1:p.His349Arg, NP_001308009.1:p.His473Arg, NP_001337486.1:p.His349Arg, NP_001308012.1:p.His483Arg, NP_001337489.1:p.His256Arg, NP_001337488.1:p.His323Arg, NP_001308013.1:p.His349Arg, NP_001337484.1:p.His420Arg

                    10.

                    rs1473946658 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      6:104796998 (GRCh38)
                      6:105244873 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:104796997:G:C
                      Gene:
                      HACE1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000006.12:g.104796998G>C, NC_000006.11:g.105244873G>C, NG_046782.1:g.67922C>G, NM_020771.4:c.645C>G, NM_020771.3:c.645C>G, NR_104424.2:n.1016C>G, NR_104424.1:n.1016C>G, NR_146791.2:n.922C>G, NR_146791.1:n.922C>G, NR_146792.2:n.1016C>G, NR_146792.1:n.1016C>G, NR_146790.2:n.922C>G, NR_146790.1:n.922C>G, NR_146788.2:n.933C>G, NR_146788.1:n.933C>G, NR_146789.2:n.922C>G, NR_146789.1:n.922C>G, NM_001350554.2:c.411C>G, NM_001350554.1:c.411C>G, NM_001350556.2:c.159C>G, NM_001350556.1:c.159C>G, NM_001350558.2:c.141C>G, NM_001350558.1:c.141C>G, NM_001321080.2:c.513C>G, NM_001321080.1:c.513C>G, NM_001350557.2:c.141C>G, NM_001350557.1:c.141C>G, NR_146787.2:n.763C>G, NR_146787.1:n.763C>G, NM_001321083.2:c.543C>G, NM_001321083.1:c.543C>G, NM_001350560.2:c.-139C>G, NM_001350560.1:c.-139C>G, NM_001350559.2:c.63C>G, NM_001350559.1:c.63C>G, NM_001321084.2:c.141C>G, NM_001321084.1:c.141C>G, NM_001350555.2:c.354C>G, NM_001350555.1:c.354C>G, NP_065822.2:p.Ile215Met, NP_001337483.1:p.Ile137Met, NP_001337485.1:p.Ile53Met, NP_001337487.1:p.Ile47Met, NP_001308009.1:p.Ile171Met, NP_001337486.1:p.Ile47Met, NP_001308012.1:p.Ile181Met, NP_001337488.1:p.Ile21Met, NP_001308013.1:p.Ile47Met, NP_001337484.1:p.Ile118Met

                      11.

                      rs1470892896 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        6:104771953 (GRCh38)
                        6:105219828 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:104771952:G:A
                        Gene:
                        HACE1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000006.12:g.104771953G>A, NC_000006.11:g.105219828G>A, NG_046782.1:g.92967C>T, NM_020771.4:c.1986C>T, NM_020771.3:c.1986C>T, NR_104424.2:n.2462C>T, NR_104424.1:n.2462C>T, NR_146791.2:n.2368C>T, NR_146791.1:n.2368C>T, NR_146792.2:n.2344C>T, NR_146792.1:n.2344C>T, NR_146790.2:n.2267C>T, NR_146790.1:n.2267C>T, NR_146788.2:n.2261C>T, NR_146788.1:n.2261C>T, NR_146789.2:n.2250C>T, NR_146789.1:n.2250C>T, NM_001350554.2:c.1752C>T, NM_001350554.1:c.1752C>T, NM_001350556.2:c.1500C>T, NM_001350556.1:c.1500C>T, NM_001350558.2:c.1482C>T, NM_001350558.1:c.1482C>T, NM_001321080.2:c.1854C>T, NM_001321080.1:c.1854C>T, NM_001350557.2:c.1482C>T, NM_001350557.1:c.1482C>T, NR_146787.2:n.2091C>T, NR_146787.1:n.2091C>T, NM_001321083.2:c.1884C>T, NM_001321083.1:c.1884C>T, NM_001350560.2:c.1203C>T, NM_001350560.1:c.1203C>T, NM_001350559.2:c.1404C>T, NM_001350559.1:c.1404C>T, NM_001321084.2:c.1482C>T, NM_001321084.1:c.1482C>T, NM_001350555.2:c.1695C>T, NM_001350555.1:c.1695C>T

                        12.

                        rs1470031596 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          6:104777243 (GRCh38)
                          6:105225118 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:104777242:C:T
                          Gene:
                          HACE1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,synonymous_variant,coding_sequence_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_000006.12:g.104777243C>T, NC_000006.11:g.105225118C>T, NG_046782.1:g.87677G>A, NM_020771.4:c.1641G>A, NM_020771.3:c.1641G>A, NR_104424.2:n.2117G>A, NR_104424.1:n.2117G>A, NR_146791.2:n.2023G>A, NR_146791.1:n.2023G>A, NR_146792.2:n.2012G>A, NR_146792.1:n.2012G>A, NR_146790.2:n.1922G>A, NR_146790.1:n.1922G>A, NR_146788.2:n.1929G>A, NR_146788.1:n.1929G>A, NR_146789.2:n.1918G>A, NR_146789.1:n.1918G>A, NM_001350554.2:c.1407G>A, NM_001350554.1:c.1407G>A, NM_001350556.2:c.1155G>A, NM_001350556.1:c.1155G>A, NM_001350558.2:c.1137G>A, NM_001350558.1:c.1137G>A, NM_001321080.2:c.1509G>A, NM_001321080.1:c.1509G>A, NM_001350557.2:c.1137G>A, NM_001350557.1:c.1137G>A, NR_146787.2:n.1759G>A, NR_146787.1:n.1759G>A, NM_001321083.2:c.1539G>A, NM_001321083.1:c.1539G>A, NM_001350560.2:c.858G>A, NM_001350560.1:c.858G>A, NM_001350559.2:c.1059G>A, NM_001350559.1:c.1059G>A, NM_001321084.2:c.1137G>A, NM_001321084.1:c.1137G>A, NM_001350555.2:c.1350G>A, NM_001350555.1:c.1350G>A

                          13.

                          rs1469890443 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            6:104771216 (GRCh38)
                            6:105219091 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:104771215:T:C
                            Gene:
                            HACE1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000006.12:g.104771216T>C, NC_000006.11:g.105219091T>C, NG_046782.1:g.93704A>G, NM_020771.4:c.2188A>G, NM_020771.3:c.2188A>G, NR_104424.2:n.2664A>G, NR_104424.1:n.2664A>G, NR_146791.2:n.2570A>G, NR_146791.1:n.2570A>G, NR_146792.2:n.2546A>G, NR_146792.1:n.2546A>G, NR_146790.2:n.2469A>G, NR_146790.1:n.2469A>G, NR_146788.2:n.2463A>G, NR_146788.1:n.2463A>G, NR_146789.2:n.2452A>G, NR_146789.1:n.2452A>G, NM_001350554.2:c.1954A>G, NM_001350554.1:c.1954A>G, NM_001350556.2:c.1702A>G, NM_001350556.1:c.1702A>G, NM_001350558.2:c.1684A>G, NM_001350558.1:c.1684A>G, NM_001321080.2:c.2056A>G, NM_001321080.1:c.2056A>G, NM_001350557.2:c.1684A>G, NM_001350557.1:c.1684A>G, NR_146787.2:n.2293A>G, NR_146787.1:n.2293A>G, NM_001321083.2:c.2086A>G, NM_001321083.1:c.2086A>G, NM_001350560.2:c.1405A>G, NM_001350560.1:c.1405A>G, NM_001350559.2:c.1606A>G, NM_001350559.1:c.1606A>G, NM_001321084.2:c.1684A>G, NM_001321084.1:c.1684A>G, NM_001350555.2:c.1897A>G, NM_001350555.1:c.1897A>G, NP_065822.2:p.Ile730Val, NP_001337483.1:p.Ile652Val, NP_001337485.1:p.Ile568Val, NP_001337487.1:p.Ile562Val, NP_001308009.1:p.Ile686Val, NP_001337486.1:p.Ile562Val, NP_001308012.1:p.Ile696Val, NP_001337489.1:p.Ile469Val, NP_001337488.1:p.Ile536Val, NP_001308013.1:p.Ile562Val, NP_001337484.1:p.Ile633Val

                            14.

                            rs1467195727 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              A>- [Show Flanks]
                              Chromosome:
                              6:104730356 (GRCh38)
                              6:105178231 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:104730355:AAA:AA
                              Gene:
                              HACE1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              -=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000006.12:g.104730358del, NC_000006.11:g.105178233del, NG_046782.1:g.134564del, NM_020771.4:c.2574del, NM_020771.3:c.2574del, NR_104424.2:n.3050del, NR_104424.1:n.3050del, NR_146791.2:n.2956del, NR_146791.1:n.2956del, NR_146792.2:n.2932del, NR_146792.1:n.2932del, NR_146790.2:n.2855del, NR_146790.1:n.2855del, NR_146788.2:n.2849del, NR_146788.1:n.2849del, NR_146789.2:n.2838del, NR_146789.1:n.2838del, NM_001350554.2:c.2340del, NM_001350554.1:c.2340del, NM_001350556.2:c.2088del, NM_001350556.1:c.2088del, NM_001350558.2:c.2070del, NM_001350558.1:c.2070del, NM_001321080.2:c.2442del, NM_001321080.1:c.2442del, NM_001350557.2:c.2070del, NM_001350557.1:c.2070del, NR_146787.2:n.2679del, NR_146787.1:n.2679del, NM_001321083.2:c.2472del, NM_001321083.1:c.2472del, NM_001350560.2:c.1791del, NM_001350560.1:c.1791del, NM_001350559.2:c.1992del, NM_001350559.1:c.1992del, NM_001321084.2:c.2070del, NM_001321084.1:c.2070del, NM_001350555.2:c.2283del, NM_001350555.1:c.2283del, NP_065822.2:p.Phe858fs, NP_001337483.1:p.Phe780fs, NP_001337485.1:p.Phe696fs, NP_001337487.1:p.Phe690fs, NP_001308009.1:p.Phe814fs, NP_001337486.1:p.Phe690fs, NP_001308012.1:p.Phe824fs, NP_001337489.1:p.Phe597fs, NP_001337488.1:p.Phe664fs, NP_001308013.1:p.Phe690fs, NP_001337484.1:p.Phe761fs

                              15.

                              rs1467023587 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                6:104796944 (GRCh38)
                                6:105244819 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:104796943:C:T
                                Gene:
                                HACE1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000014/2 (GnomAD)
                                T=0.000019/5 (TOPMED)
                                HGVS:
                                NC_000006.12:g.104796944C>T, NC_000006.11:g.105244819C>T, NG_046782.1:g.67976G>A, NM_020771.4:c.699G>A, NM_020771.3:c.699G>A, NR_104424.2:n.1070G>A, NR_104424.1:n.1070G>A, NR_146791.2:n.976G>A, NR_146791.1:n.976G>A, NR_146792.2:n.1070G>A, NR_146792.1:n.1070G>A, NR_146790.2:n.976G>A, NR_146790.1:n.976G>A, NR_146788.2:n.987G>A, NR_146788.1:n.987G>A, NR_146789.2:n.976G>A, NR_146789.1:n.976G>A, NM_001350554.2:c.465G>A, NM_001350554.1:c.465G>A, NM_001350556.2:c.213G>A, NM_001350556.1:c.213G>A, NM_001350558.2:c.195G>A, NM_001350558.1:c.195G>A, NM_001321080.2:c.567G>A, NM_001321080.1:c.567G>A, NM_001350557.2:c.195G>A, NM_001350557.1:c.195G>A, NR_146787.2:n.817G>A, NR_146787.1:n.817G>A, NM_001321083.2:c.597G>A, NM_001321083.1:c.597G>A, NM_001350560.2:c.-85G>A, NM_001350560.1:c.-85G>A, NM_001350559.2:c.117G>A, NM_001350559.1:c.117G>A, NM_001321084.2:c.195G>A, NM_001321084.1:c.195G>A, NM_001350555.2:c.408G>A, NM_001350555.1:c.408G>A

                                16.

                                rs1464387716 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  6:104859605 (GRCh38)
                                  6:105307480 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:104859604:C:A,NC_000006.12:104859604:C:T
                                  Gene:
                                  HACE1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000006.12:g.104859605C>A, NC_000006.12:g.104859605C>T, NC_000006.11:g.105307480C>A, NC_000006.11:g.105307480C>T, NG_046782.1:g.5315G>T, NG_046782.1:g.5315G>A, NM_020771.4:c.38G>T, NM_020771.4:c.38G>A, NM_020771.3:c.38G>T, NM_020771.3:c.38G>A, NR_104424.2:n.315G>T, NR_104424.2:n.315G>A, NR_104424.1:n.315G>T, NR_104424.1:n.315G>A, NR_146791.2:n.315G>T, NR_146791.2:n.315G>A, NR_146791.1:n.315G>T, NR_146791.1:n.315G>A, NR_146792.2:n.315G>T, NR_146792.2:n.315G>A, NR_146792.1:n.315G>T, NR_146792.1:n.315G>A, NR_146790.2:n.315G>T, NR_146790.2:n.315G>A, NR_146790.1:n.315G>T, NR_146790.1:n.315G>A, NR_146788.2:n.315G>T, NR_146788.2:n.315G>A, NR_146788.1:n.315G>T, NR_146788.1:n.315G>A, NR_146789.2:n.315G>T, NR_146789.2:n.315G>A, NR_146789.1:n.315G>T, NR_146789.1:n.315G>A, NM_001350554.2:c.-123G>T, NM_001350554.2:c.-123G>A, NM_001350554.1:c.-123G>T, NM_001350554.1:c.-123G>A, NM_001350556.2:c.-373G>T, NM_001350556.2:c.-373G>A, NM_001350556.1:c.-373G>T, NM_001350556.1:c.-373G>A, NM_001350558.2:c.-384G>T, NM_001350558.2:c.-384G>A, NM_001350558.1:c.-384G>T, NM_001350558.1:c.-384G>A, NM_001321080.2:c.38G>T, NM_001321080.2:c.38G>A, NM_001321080.1:c.38G>T, NM_001321080.1:c.38G>A, NM_001350557.2:c.-308G>T, NM_001350557.2:c.-308G>A, NM_001350557.1:c.-308G>T, NM_001350557.1:c.-308G>A, NR_146787.2:n.315G>T, NR_146787.2:n.315G>A, NR_146787.1:n.315G>T, NR_146787.1:n.315G>A, NM_001350560.2:c.-538G>T, NM_001350560.2:c.-538G>A, NM_001350560.1:c.-538G>T, NM_001350560.1:c.-538G>A, NM_001350559.2:c.-330G>T, NM_001350559.2:c.-330G>A, NM_001350559.1:c.-330G>T, NM_001350559.1:c.-330G>A, NM_001350555.2:c.38G>T, NM_001350555.2:c.38G>A, NM_001350555.1:c.38G>T, NM_001350555.1:c.38G>A, NP_065822.2:p.Arg13Leu, NP_065822.2:p.Arg13His, NP_001308009.1:p.Arg13Leu, NP_001308009.1:p.Arg13His, NP_001337484.1:p.Arg13Leu, NP_001337484.1:p.Arg13His

                                  17.

                                  rs1462535339 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    6:104750388 (GRCh38)
                                    6:105198263 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:104750387:T:C
                                    Gene:
                                    HACE1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    HGVS:
                                    NC_000006.12:g.104750388T>C, NC_000006.11:g.105198263T>C, NG_046782.1:g.114532A>G, NM_020771.4:c.2296A>G, NM_020771.3:c.2296A>G, NR_104424.2:n.2772A>G, NR_104424.1:n.2772A>G, NR_146791.2:n.2678A>G, NR_146791.1:n.2678A>G, NR_146792.2:n.2654A>G, NR_146792.1:n.2654A>G, NR_146790.2:n.2577A>G, NR_146790.1:n.2577A>G, NR_146788.2:n.2571A>G, NR_146788.1:n.2571A>G, NR_146789.2:n.2560A>G, NR_146789.1:n.2560A>G, NM_001350554.2:c.2062A>G, NM_001350554.1:c.2062A>G, NM_001350556.2:c.1810A>G, NM_001350556.1:c.1810A>G, NM_001350558.2:c.1792A>G, NM_001350558.1:c.1792A>G, NM_001321080.2:c.2164A>G, NM_001321080.1:c.2164A>G, NM_001350557.2:c.1792A>G, NM_001350557.1:c.1792A>G, NR_146787.2:n.2401A>G, NR_146787.1:n.2401A>G, NM_001321083.2:c.2194A>G, NM_001321083.1:c.2194A>G, NM_001350560.2:c.1513A>G, NM_001350560.1:c.1513A>G, NM_001350559.2:c.1714A>G, NM_001350559.1:c.1714A>G, NM_001321084.2:c.1792A>G, NM_001321084.1:c.1792A>G, NM_001350555.2:c.2005A>G, NM_001350555.1:c.2005A>G, NP_065822.2:p.Met766Val, NP_001337483.1:p.Met688Val, NP_001337485.1:p.Met604Val, NP_001337487.1:p.Met598Val, NP_001308009.1:p.Met722Val, NP_001337486.1:p.Met598Val, NP_001308012.1:p.Met732Val, NP_001337489.1:p.Met505Val, NP_001337488.1:p.Met572Val, NP_001308013.1:p.Met598Val, NP_001337484.1:p.Met669Val

                                    18.

                                    rs1460963384 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      6:104852371 (GRCh38)
                                      6:105300246 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:104852370:T:A
                                      Gene:
                                      HACE1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.00001/1 (GnomAD)
                                      HGVS:
                                      NC_000006.12:g.104852371T>A, NC_000006.11:g.105300246T>A, NG_046782.1:g.12549A>T, NM_020771.4:c.77A>T, NM_020771.3:c.77A>T, NR_104424.2:n.354A>T, NR_104424.1:n.354A>T, NR_146791.2:n.354A>T, NR_146791.1:n.354A>T, NR_146792.2:n.354A>T, NR_146792.1:n.354A>T, NR_146790.2:n.354A>T, NR_146790.1:n.354A>T, NR_146788.2:n.354A>T, NR_146788.1:n.354A>T, NR_146789.2:n.354A>T, NR_146789.1:n.354A>T, NM_001350554.2:c.-26A>T, NM_001350554.1:c.-26A>T, NM_001350556.2:c.-334A>T, NM_001350556.1:c.-334A>T, NM_001350558.2:c.-345A>T, NM_001350558.1:c.-345A>T, NM_001321080.2:c.77A>T, NM_001321080.1:c.77A>T, NM_001350557.2:c.-269A>T, NM_001350557.1:c.-269A>T, NR_146787.2:n.354A>T, NR_146787.1:n.354A>T, NM_001321083.2:c.-26A>T, NM_001321083.1:c.-26A>T, NM_001350560.2:c.-499A>T, NM_001350560.1:c.-499A>T, NM_001350559.2:c.-291A>T, NM_001350559.1:c.-291A>T, NM_001321084.2:c.-345A>T, NM_001321084.1:c.-345A>T, NM_001350555.2:c.77A>T, NM_001350555.1:c.77A>T, NP_065822.2:p.Asp26Val, NP_001308009.1:p.Asp26Val, NP_001337484.1:p.Asp26Val

                                      19.

                                      rs1458858178 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        6:104791643 (GRCh38)
                                        6:105239518 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:104791642:T:C
                                        Gene:
                                        HACE1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000011/3 (TOPMED)
                                        C=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000006.12:g.104791643T>C, NC_000006.11:g.105239518T>C, NG_046782.1:g.73277A>G, NM_020771.4:c.935A>G, NM_020771.3:c.935A>G, NR_104424.2:n.1306A>G, NR_104424.1:n.1306A>G, NR_146791.2:n.1212A>G, NR_146791.1:n.1212A>G, NR_146792.2:n.1306A>G, NR_146792.1:n.1306A>G, NR_146790.2:n.1212A>G, NR_146790.1:n.1212A>G, NR_146788.2:n.1223A>G, NR_146788.1:n.1223A>G, NR_146789.2:n.1212A>G, NR_146789.1:n.1212A>G, NM_001350554.2:c.701A>G, NM_001350554.1:c.701A>G, NM_001350556.2:c.449A>G, NM_001350556.1:c.449A>G, NM_001350558.2:c.431A>G, NM_001350558.1:c.431A>G, NM_001321080.2:c.803A>G, NM_001321080.1:c.803A>G, NM_001350557.2:c.431A>G, NM_001350557.1:c.431A>G, NR_146787.2:n.1053A>G, NR_146787.1:n.1053A>G, NM_001321083.2:c.833A>G, NM_001321083.1:c.833A>G, NM_001350560.2:c.152A>G, NM_001350560.1:c.152A>G, NM_001350559.2:c.353A>G, NM_001350559.1:c.353A>G, NM_001321084.2:c.431A>G, NM_001321084.1:c.431A>G, NM_001350555.2:c.644A>G, NM_001350555.1:c.644A>G, NP_065822.2:p.Asn312Ser, NP_001337483.1:p.Asn234Ser, NP_001337485.1:p.Asn150Ser, NP_001337487.1:p.Asn144Ser, NP_001308009.1:p.Asn268Ser, NP_001337486.1:p.Asn144Ser, NP_001308012.1:p.Asn278Ser, NP_001337489.1:p.Asn51Ser, NP_001337488.1:p.Asn118Ser, NP_001308013.1:p.Asn144Ser, NP_001337484.1:p.Asn215Ser

                                        20.

                                        rs1458791297 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          6:104811392 (GRCh38)
                                          6:105259267 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:104811391:G:C
                                          Gene:
                                          HACE1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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