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Links from Protein

Items: 1 to 20 of 490

1.

rs1486476381 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    2:206755191 (GRCh38)
    2:207619915 (GRCh37)
    Canonical SPDI:
    NC_000002.12:206755190:A:G
    Gene:
    MDH1B (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:

    2.

    rs1485124169 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      2:206756986 (GRCh38)
      2:207621710 (GRCh37)
      Canonical SPDI:
      NC_000002.12:206756985:G:C
      Gene:
      MDH1B (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000056/2 (ALFA)
      C=0.000015/4 (TOPMED)
      C=0.000021/3 (GnomAD)
      HGVS:
      NC_000002.12:g.206756986G>C, NC_000002.11:g.207621710G>C, XM_005246316.6:c.325C>G, XM_005246316.5:c.325C>G, XM_005246316.4:c.325C>G, XM_005246316.3:c.325C>G, XM_005246316.2:c.325C>G, XM_005246316.1:c.325C>G, NM_001039845.3:c.325C>G, NM_001039845.2:c.325C>G, NM_001039845.1:c.325C>G, XR_922861.3:n.382C>G, XR_922861.2:n.394C>G, XR_922861.1:n.394C>G, NR_138467.2:n.382C>G, NR_138467.1:n.603C>G, NR_138468.2:n.269C>G, NR_138468.1:n.490C>G, NM_001282940.2:c.325C>G, NM_001282940.1:c.325C>G, NM_001330224.2:c.-136C>G, NM_001330224.1:c.-136C>G, NM_001330223.2:c.31C>G, NM_001330223.1:c.31C>G, NM_001330226.2:c.31C>G, NM_001330226.1:c.31C>G, NM_001330225.2:c.-136C>G, NM_001330225.1:c.-136C>G, NR_104261.2:n.382C>G, NR_104261.1:n.603C>G, NM_206892.1:c.325C>G, XM_047443424.1:c.325C>G, XP_005246373.1:p.Gln109Glu, NP_001034934.1:p.Gln109Glu, NP_001269869.1:p.Gln109Glu, NP_001317152.1:p.Gln11Glu, NP_001317155.1:p.Gln11Glu, XP_047299380.1:p.Gln109Glu

      3.

      rs1481450859 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        2:206739655 (GRCh38)
        2:207604379 (GRCh37)
        Canonical SPDI:
        NC_000002.12:206739654:T:C
        Gene:
        MDH1B (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,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 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        NC_000002.12:g.206739655T>C, NC_000002.11:g.207604379T>C, XM_005246316.6:c.827A>G, XM_005246316.5:c.827A>G, XM_005246316.4:c.827A>G, XM_005246316.3:c.827A>G, XM_005246316.2:c.827A>G, XM_005246316.1:c.827A>G, NM_001039845.3:c.1466A>G, NM_001039845.2:c.1466A>G, NM_001039845.1:c.1466A>G, XR_922861.3:n.1891A>G, XR_922861.2:n.1903A>G, NR_138467.2:n.1894A>G, NR_138467.1:n.2115A>G, NR_138468.2:n.1781A>G, NR_138468.1:n.2002A>G, NM_001282940.2:c.1463A>G, NM_001282940.1:c.1463A>G, NM_001330224.2:c.992A>G, NM_001330224.1:c.992A>G, NM_001330223.2:c.1172A>G, NM_001330223.1:c.1172A>G, NM_001330226.2:c.1169A>G, NM_001330226.1:c.1169A>G, NM_001330225.2:c.989A>G, NM_001330225.1:c.989A>G, NR_104261.2:n.1162A>G, NR_104261.1:n.1383A>G, NM_206892.1:c.*253A>G, XP_005246373.1:p.Glu276Gly, NP_001034934.1:p.Glu489Gly, NP_001269869.1:p.Glu488Gly, NP_001317153.1:p.Glu331Gly, NP_001317152.1:p.Glu391Gly, NP_001317155.1:p.Glu390Gly, NP_001317154.1:p.Glu330Gly

        4.

        rs1479672712 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,G [Show Flanks]
          Chromosome:
          2:206739647 (GRCh38)
          2:207604371 (GRCh37)
          Canonical SPDI:
          NC_000002.12:206739646:T:A,NC_000002.12:206739646:T:G
          Gene:
          MDH1B (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          HGVS:
          NC_000002.12:g.206739647T>A, NC_000002.12:g.206739647T>G, NC_000002.11:g.207604371T>A, NC_000002.11:g.207604371T>G, XM_005246316.6:c.835A>T, XM_005246316.6:c.835A>C, XM_005246316.5:c.835A>T, XM_005246316.5:c.835A>C, XM_005246316.4:c.835A>T, XM_005246316.4:c.835A>C, XM_005246316.3:c.835A>T, XM_005246316.3:c.835A>C, XM_005246316.2:c.835A>T, XM_005246316.2:c.835A>C, XM_005246316.1:c.835A>T, XM_005246316.1:c.835A>C, NM_001039845.3:c.1474A>T, NM_001039845.3:c.1474A>C, NM_001039845.2:c.1474A>T, NM_001039845.2:c.1474A>C, NM_001039845.1:c.1474A>T, NM_001039845.1:c.1474A>C, XR_922861.3:n.1899A>T, XR_922861.3:n.1899A>C, XR_922861.2:n.1911A>T, XR_922861.2:n.1911A>C, NR_138467.2:n.1902A>T, NR_138467.2:n.1902A>C, NR_138467.1:n.2123A>T, NR_138467.1:n.2123A>C, NR_138468.2:n.1789A>T, NR_138468.2:n.1789A>C, NR_138468.1:n.2010A>T, NR_138468.1:n.2010A>C, NM_001282940.2:c.1471A>T, NM_001282940.2:c.1471A>C, NM_001282940.1:c.1471A>T, NM_001282940.1:c.1471A>C, NM_001330224.2:c.1000A>T, NM_001330224.2:c.1000A>C, NM_001330224.1:c.1000A>T, NM_001330224.1:c.1000A>C, NM_001330223.2:c.1180A>T, NM_001330223.2:c.1180A>C, NM_001330223.1:c.1180A>T, NM_001330223.1:c.1180A>C, NM_001330226.2:c.1177A>T, NM_001330226.2:c.1177A>C, NM_001330226.1:c.1177A>T, NM_001330226.1:c.1177A>C, NM_001330225.2:c.997A>T, NM_001330225.2:c.997A>C, NM_001330225.1:c.997A>T, NM_001330225.1:c.997A>C, NR_104261.2:n.1170A>T, NR_104261.2:n.1170A>C, NR_104261.1:n.1391A>T, NR_104261.1:n.1391A>C, NM_206892.1:c.*261A>T, NM_206892.1:c.*261A>C, XP_005246373.1:p.Asn279Tyr, XP_005246373.1:p.Asn279His, NP_001034934.1:p.Asn492Tyr, NP_001034934.1:p.Asn492His, NP_001269869.1:p.Asn491Tyr, NP_001269869.1:p.Asn491His, NP_001317153.1:p.Asn334Tyr, NP_001317153.1:p.Asn334His, NP_001317152.1:p.Asn394Tyr, NP_001317152.1:p.Asn394His, NP_001317155.1:p.Asn393Tyr, NP_001317155.1:p.Asn393His, NP_001317154.1:p.Asn333Tyr, NP_001317154.1:p.Asn333His

          5.

          rs1476271000 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            2:206749136 (GRCh38)
            2:207613860 (GRCh37)
            Canonical SPDI:
            NC_000002.12:206749135:G:A,NC_000002.12:206749135:G:C
            Gene:
            MDH1B (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,3_prime_UTR_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000004/1 (TOPMED)
            A=0.000014/2 (GnomAD)
            HGVS:
            NC_000002.12:g.206749136G>A, NC_000002.12:g.206749136G>C, NC_000002.11:g.207613860G>A, NC_000002.11:g.207613860G>C, XM_005246316.6:c.461C>T, XM_005246316.6:c.461C>G, XM_005246316.5:c.461C>T, XM_005246316.5:c.461C>G, XM_005246316.4:c.461C>T, XM_005246316.4:c.461C>G, XM_005246316.3:c.461C>T, XM_005246316.3:c.461C>G, XM_005246316.2:c.461C>T, XM_005246316.2:c.461C>G, XM_005246316.1:c.461C>T, XM_005246316.1:c.461C>G, NM_001039845.3:c.1100C>T, NM_001039845.3:c.1100C>G, NM_001039845.2:c.1100C>T, NM_001039845.2:c.1100C>G, NM_001039845.1:c.1100C>T, NM_001039845.1:c.1100C>G, XR_922861.3:n.1157C>T, XR_922861.3:n.1157C>G, XR_922861.2:n.1169C>T, XR_922861.2:n.1169C>G, XR_922861.1:n.1169C>T, XR_922861.1:n.1169C>G, NR_138467.2:n.1157C>T, NR_138467.2:n.1157C>G, NR_138467.1:n.1378C>T, NR_138467.1:n.1378C>G, NR_138468.2:n.1044C>T, NR_138468.2:n.1044C>G, NR_138468.1:n.1265C>T, NR_138468.1:n.1265C>G, NM_001282940.2:c.1100C>T, NM_001282940.2:c.1100C>G, NM_001282940.1:c.1100C>T, NM_001282940.1:c.1100C>G, NM_001330224.2:c.626C>T, NM_001330224.2:c.626C>G, NM_001330224.1:c.626C>T, NM_001330224.1:c.626C>G, NM_001330223.2:c.806C>T, NM_001330223.2:c.806C>G, NM_001330223.1:c.806C>T, NM_001330223.1:c.806C>G, NM_001330226.2:c.806C>T, NM_001330226.2:c.806C>G, NM_001330226.1:c.806C>T, NM_001330226.1:c.806C>G, NM_001330225.2:c.626C>T, NM_001330225.2:c.626C>G, NM_001330225.1:c.626C>T, NM_001330225.1:c.626C>G, NR_104261.2:n.518C>T, NR_104261.2:n.518C>G, NR_104261.1:n.739C>T, NR_104261.1:n.739C>G, NM_206892.1:c.461C>T, NM_206892.1:c.461C>G, XM_047443424.1:c.*37C>T, XM_047443424.1:c.*37C>G, XP_005246373.1:p.Thr154Ile, XP_005246373.1:p.Thr154Ser, NP_001034934.1:p.Thr367Ile, NP_001034934.1:p.Thr367Ser, NP_001269869.1:p.Thr367Ile, NP_001269869.1:p.Thr367Ser, NP_001317153.1:p.Thr209Ile, NP_001317153.1:p.Thr209Ser, NP_001317152.1:p.Thr269Ile, NP_001317152.1:p.Thr269Ser, NP_001317155.1:p.Thr269Ile, NP_001317155.1:p.Thr269Ser, NP_001317154.1:p.Thr209Ile, NP_001317154.1:p.Thr209Ser

            6.

            rs1475650354 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              2:206755436 (GRCh38)
              2:207620160 (GRCh37)
              Canonical SPDI:
              NC_000002.12:206755435:T:C
              Gene:
              MDH1B (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:

              7.

              rs1474901801 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                2:206756966 (GRCh38)
                2:207621690 (GRCh37)
                Canonical SPDI:
                NC_000002.12:206756965:A:G
                Gene:
                MDH1B (Varview)
                Functional Consequence:
                coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant
                Validated:
                by frequency
                MAF:
                G=0.000008/2 (GnomAD_exomes)
                HGVS:

                8.

                rs1474690579 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  2:206757308 (GRCh38)
                  2:207622032 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:206757307:T:A
                  Gene:
                  MDH1B (Varview)
                  Functional Consequence:
                  coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,stop_gained
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000002.12:g.206757308T>A, NC_000002.11:g.207622032T>A, XM_005246316.6:c.199A>T, XM_005246316.5:c.199A>T, XM_005246316.4:c.199A>T, XM_005246316.3:c.199A>T, XM_005246316.2:c.199A>T, XM_005246316.1:c.199A>T, NM_001039845.3:c.199A>T, NM_001039845.2:c.199A>T, NM_001039845.1:c.199A>T, XR_922861.3:n.256A>T, XR_922861.2:n.268A>T, XR_922861.1:n.268A>T, NR_138467.2:n.256A>T, NR_138467.1:n.477A>T, NR_138468.2:n.143A>T, NR_138468.1:n.364A>T, NM_001282940.2:c.199A>T, NM_001282940.1:c.199A>T, NM_001330224.2:c.-262A>T, NM_001330224.1:c.-262A>T, NM_001330223.2:c.-96A>T, NM_001330223.1:c.-96A>T, NM_001330226.2:c.-96A>T, NM_001330226.1:c.-96A>T, NM_001330225.2:c.-262A>T, NM_001330225.1:c.-262A>T, NR_104261.2:n.256A>T, NR_104261.1:n.477A>T, NM_206892.1:c.199A>T, XM_047443424.1:c.199A>T, XP_005246373.1:p.Arg67Ter, NP_001034934.1:p.Arg67Ter, NP_001269869.1:p.Arg67Ter, XP_047299380.1:p.Arg67Ter

                  9.

                  rs1474283974 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    2:206755413 (GRCh38)
                    2:207620137 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:206755412:T:A
                    Gene:
                    MDH1B (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:

                    10.

                    rs1467639474 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      2:206755324 (GRCh38)
                      2:207620048 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:206755323:T:C
                      Gene:
                      MDH1B (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:

                      11.

                      rs1467156034 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        T>- [Show Flanks]
                        Chromosome:
                        2:206745626 (GRCh38)
                        2:207610350 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:206745625:TT:T
                        Gene:
                        MDH1B (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,frameshift_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TT=0./0 (ALFA)
                        -=0.000007/1 (GnomAD)
                        -=0.000015/4 (TOPMED)
                        HGVS:
                        NC_000002.12:g.206745627del, NC_000002.11:g.207610351del, XM_005246316.6:c.765del, XM_005246316.5:c.765del, XM_005246316.4:c.765del, XM_005246316.3:c.765del, XM_005246316.2:c.765del, XM_005246316.1:c.765del, NM_001039845.3:c.1404del, NM_001039845.2:c.1404del, NM_001039845.1:c.1404del, XR_922861.3:n.1461del, XR_922861.2:n.1473del, XR_922861.1:n.1473del, NR_138467.2:n.1461del, NR_138467.1:n.1682del, NR_138468.2:n.1348del, NR_138468.1:n.1569del, NM_001282940.2:c.1404del, NM_001282940.1:c.1404del, NM_001330224.2:c.930del, NM_001330224.1:c.930del, NM_001330223.2:c.1110del, NM_001330223.1:c.1110del, NM_001330226.2:c.1110del, NM_001330226.1:c.1110del, NM_001330225.2:c.930del, NM_001330225.1:c.930del, NR_104261.2:n.822del, NR_104261.1:n.1043del, NM_206892.1:c.765del, XP_005246373.1:p.Gln255fs, NP_001034934.1:p.Gln468fs, NP_001269869.1:p.Gln468fs, NP_001317153.1:p.Gln310fs, NP_001317152.1:p.Gln370fs, NP_001317155.1:p.Gln370fs, NP_001317154.1:p.Gln310fs

                        12.

                        rs1465048826 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          2:206757311 (GRCh38)
                          2:207622035 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:206757310:A:T
                          Gene:
                          MDH1B (Varview)
                          Functional Consequence:
                          coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
                          HGVS:
                          NC_000002.12:g.206757311A>T, NC_000002.11:g.207622035A>T, XM_005246316.6:c.196T>A, XM_005246316.5:c.196T>A, XM_005246316.4:c.196T>A, XM_005246316.3:c.196T>A, XM_005246316.2:c.196T>A, XM_005246316.1:c.196T>A, NM_001039845.3:c.196T>A, NM_001039845.2:c.196T>A, NM_001039845.1:c.196T>A, XR_922861.3:n.253T>A, XR_922861.2:n.265T>A, XR_922861.1:n.265T>A, NR_138467.2:n.253T>A, NR_138467.1:n.474T>A, NR_138468.2:n.140T>A, NR_138468.1:n.361T>A, NM_001282940.2:c.196T>A, NM_001282940.1:c.196T>A, NM_001330224.2:c.-265T>A, NM_001330224.1:c.-265T>A, NM_001330223.2:c.-99T>A, NM_001330223.1:c.-99T>A, NM_001330226.2:c.-99T>A, NM_001330226.1:c.-99T>A, NM_001330225.2:c.-265T>A, NM_001330225.1:c.-265T>A, NR_104261.2:n.253T>A, NR_104261.1:n.474T>A, NM_206892.1:c.196T>A, XM_047443424.1:c.196T>A, XP_005246373.1:p.Trp66Arg, NP_001034934.1:p.Trp66Arg, NP_001269869.1:p.Trp66Arg, XP_047299380.1:p.Trp66Arg

                          13.

                          rs1459885708 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            2:206755362 (GRCh38)
                            2:207620086 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:206755361:T:C
                            Gene:
                            MDH1B (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1458929035 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              2:206749080 (GRCh38)
                              2:207613804 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:206749079:T:G
                              Gene:
                              MDH1B (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000002.12:g.206749080T>G, NC_000002.11:g.207613804T>G, XM_005246316.6:c.517A>C, XM_005246316.5:c.517A>C, XM_005246316.4:c.517A>C, XM_005246316.3:c.517A>C, XM_005246316.2:c.517A>C, XM_005246316.1:c.517A>C, NM_001039845.3:c.1156A>C, NM_001039845.2:c.1156A>C, NM_001039845.1:c.1156A>C, XR_922861.3:n.1213A>C, XR_922861.2:n.1225A>C, XR_922861.1:n.1225A>C, NR_138467.2:n.1213A>C, NR_138467.1:n.1434A>C, NR_138468.2:n.1100A>C, NR_138468.1:n.1321A>C, NM_001282940.2:c.1156A>C, NM_001282940.1:c.1156A>C, NM_001330224.2:c.682A>C, NM_001330224.1:c.682A>C, NM_001330223.2:c.862A>C, NM_001330223.1:c.862A>C, NM_001330226.2:c.862A>C, NM_001330226.1:c.862A>C, NM_001330225.2:c.682A>C, NM_001330225.1:c.682A>C, NR_104261.2:n.574A>C, NR_104261.1:n.795A>C, NM_206892.1:c.517A>C, XP_005246373.1:p.Lys173Gln, NP_001034934.1:p.Lys386Gln, NP_001269869.1:p.Lys386Gln, NP_001317153.1:p.Lys228Gln, NP_001317152.1:p.Lys288Gln, NP_001317155.1:p.Lys288Gln, NP_001317154.1:p.Lys228Gln

                              15.

                              rs1458255431 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                2:206756948 (GRCh38)
                                2:207621672 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:206756947:C:T
                                Gene:
                                MDH1B (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1456016343 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AGCATTTTTCTCTATCAGGTACCCATAGAGCCTGCAGAGAGGCACCCTG>- [Show Flanks]
                                  Chromosome:
                                  2:206755178 (GRCh38)
                                  2:207619902 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:206755175:TGAGCATTTTTCTCTATCAGGTACCCATAGAGCCTGCAGAGAGGCACCCTG:TG
                                  Gene:
                                  MDH1B (Varview)
                                  Functional Consequence:
                                  frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  TG=0.00008/1 (ALFA)
                                  HGVS:
                                  NC_000002.12:g.206755178_206755226del, NC_000002.11:g.207619902_207619950del, NM_001039845.3:c.695_743del, NM_001039845.2:c.695_743del, NM_001039845.1:c.695_743del, XR_922861.3:n.752_800del, XR_922861.2:n.764_812del, XR_922861.1:n.764_812del, NR_138467.2:n.752_800del, NR_138467.1:n.973_1021del, NR_138468.2:n.639_687del, NR_138468.1:n.860_908del, NM_001282940.2:c.695_743del, NM_001282940.1:c.695_743del, NM_001330224.2:c.221_269del, NM_001330224.1:c.221_269del, NM_001330223.2:c.401_449del, NM_001330223.1:c.401_449del, NM_001330226.2:c.401_449del, NM_001330226.1:c.401_449del, NM_001330225.2:c.221_269del, NM_001330225.1:c.221_269del, XM_047443424.1:c.695_743del, NP_001034934.1:p.Arg232fs, NP_001269869.1:p.Arg232fs, NP_001317153.1:p.Arg74fs, NP_001317152.1:p.Arg134fs, NP_001317155.1:p.Arg134fs, NP_001317154.1:p.Arg74fs, XP_047299380.1:p.Arg232fs

                                  17.

                                  rs1449733615 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    2:206755247 (GRCh38)
                                    2:207619971 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:206755246:A:C
                                    Gene:
                                    MDH1B (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1447730127 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:206755338 (GRCh38)
                                      2:207620062 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:206755337:C:T
                                      Gene:
                                      MDH1B (Varview)
                                      Functional Consequence:
                                      missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1447294072 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        2:206749052 (GRCh38)
                                        2:207613776 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:206749051:C:G,NC_000002.12:206749051:C:T
                                        Gene:
                                        MDH1B (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000002.12:g.206749052C>G, NC_000002.12:g.206749052C>T, NC_000002.11:g.207613776C>G, NC_000002.11:g.207613776C>T, XM_005246316.6:c.545G>C, XM_005246316.6:c.545G>A, XM_005246316.5:c.545G>C, XM_005246316.5:c.545G>A, XM_005246316.4:c.545G>C, XM_005246316.4:c.545G>A, XM_005246316.3:c.545G>C, XM_005246316.3:c.545G>A, XM_005246316.2:c.545G>C, XM_005246316.2:c.545G>A, XM_005246316.1:c.545G>C, XM_005246316.1:c.545G>A, NM_001039845.3:c.1184G>C, NM_001039845.3:c.1184G>A, NM_001039845.2:c.1184G>C, NM_001039845.2:c.1184G>A, NM_001039845.1:c.1184G>C, NM_001039845.1:c.1184G>A, XR_922861.3:n.1241G>C, XR_922861.3:n.1241G>A, XR_922861.2:n.1253G>C, XR_922861.2:n.1253G>A, XR_922861.1:n.1253G>C, XR_922861.1:n.1253G>A, NR_138467.2:n.1241G>C, NR_138467.2:n.1241G>A, NR_138467.1:n.1462G>C, NR_138467.1:n.1462G>A, NR_138468.2:n.1128G>C, NR_138468.2:n.1128G>A, NR_138468.1:n.1349G>C, NR_138468.1:n.1349G>A, NM_001282940.2:c.1184G>C, NM_001282940.2:c.1184G>A, NM_001282940.1:c.1184G>C, NM_001282940.1:c.1184G>A, NM_001330224.2:c.710G>C, NM_001330224.2:c.710G>A, NM_001330224.1:c.710G>C, NM_001330224.1:c.710G>A, NM_001330223.2:c.890G>C, NM_001330223.2:c.890G>A, NM_001330223.1:c.890G>C, NM_001330223.1:c.890G>A, NM_001330226.2:c.890G>C, NM_001330226.2:c.890G>A, NM_001330226.1:c.890G>C, NM_001330226.1:c.890G>A, NM_001330225.2:c.710G>C, NM_001330225.2:c.710G>A, NM_001330225.1:c.710G>C, NM_001330225.1:c.710G>A, NR_104261.2:n.602G>C, NR_104261.2:n.602G>A, NR_104261.1:n.823G>C, NR_104261.1:n.823G>A, NM_206892.1:c.545G>C, NM_206892.1:c.545G>A, XP_005246373.1:p.Gly182Ala, XP_005246373.1:p.Gly182Glu, NP_001034934.1:p.Gly395Ala, NP_001034934.1:p.Gly395Glu, NP_001269869.1:p.Gly395Ala, NP_001269869.1:p.Gly395Glu, NP_001317153.1:p.Gly237Ala, NP_001317153.1:p.Gly237Glu, NP_001317152.1:p.Gly297Ala, NP_001317152.1:p.Gly297Glu, NP_001317155.1:p.Gly297Ala, NP_001317155.1:p.Gly297Glu, NP_001317154.1:p.Gly237Ala, NP_001317154.1:p.Gly237Glu

                                        20.

                                        rs1446841019 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          2:206749102 (GRCh38)
                                          2:207613826 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:206749101:T:G
                                          Gene:
                                          MDH1B (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
                                          HGVS:

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