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Items: 1 to 20 of 802

1.

rs1490759764 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CTT>- [Show Flanks]
    Chromosome:
    7:23785520 (GRCh38)
    7:23825139 (GRCh37)
    Canonical SPDI:
    NC_000007.14:23785515:TCTTCTT:TCTT
    Gene:
    STK31 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,inframe_deletion
    Validated:
    by frequency
    MAF:
    -=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000007.14:g.23785517CTT[1], NC_000007.13:g.23825136CTT[1], NM_031414.5:c.2188CTT[1], NM_031414.4:c.2188CTT[1], XM_006715758.5:c.1654CTT[1], XM_006715758.4:c.1654CTT[1], XM_006715758.3:c.1654CTT[1], XM_006715758.2:c.1654CTT[1], XM_006715758.1:c.1654CTT[1], NM_032944.4:c.2119CTT[1], NM_032944.3:c.2119CTT[1], XM_011515449.4:c.2200CTT[1], XM_011515449.3:c.2200CTT[1], XM_011515449.2:c.2200CTT[1], XM_011515449.1:c.2197CTT[1], XM_011515452.4:c.1666CTT[1], XM_011515452.3:c.1666CTT[1], XM_011515452.2:c.1666CTT[1], XM_011515452.1:c.1663CTT[1], NM_001260504.2:c.2119CTT[1], NM_001260504.1:c.2119CTT[1], XM_011515450.2:c.2119CTT[1], XM_011515450.1:c.2119CTT[1], NR_048542.2:n.2247CTT[1], NR_048542.1:n.2299CTT[1], NM_001260505.2:c.2188CTT[1], NM_001260505.1:c.2188CTT[1], NM_001122833.1:c.2119CTT[1], NP_113602.2:p.Leu731del, XP_006715821.1:p.Leu553del, NP_116562.2:p.Leu708del, XP_011513751.2:p.Leu735del, XP_011513754.2:p.Leu557del, NP_001247433.1:p.Leu708del, XP_011513752.1:p.Leu708del, NP_001247434.1:p.Leu731del

    2.

    rs1488845008 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      7:23754453 (GRCh38)
      7:23794072 (GRCh37)
      Canonical SPDI:
      NC_000007.14:23754452:T:C
      Gene:
      STK31 (Varview)
      Functional Consequence:
      synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:

      3.

      rs1482052661 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        ACAA>- [Show Flanks]
        Chromosome:
        7:23832334 (GRCh38)
        7:23871953 (GRCh37)
        Canonical SPDI:
        NC_000007.14:23832333:ACAA:
        Gene:
        STK31 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
        HGVS:
        NC_000007.14:g.23832334_23832337del, NC_000007.13:g.23871953_23871956del, NM_031414.5:c.3028_3031del, NM_031414.4:c.3028_3031del, XM_006715758.5:c.2494_2497del, XM_006715758.4:c.2494_2497del, XM_006715758.3:c.2494_2497del, XM_006715758.2:c.2494_2497del, XM_006715758.1:c.2494_2497del, NM_032944.4:c.2959_2962del, NM_032944.3:c.2959_2962del, XM_011515449.4:c.3040_3043del, XM_011515449.3:c.3040_3043del, XM_011515449.2:c.3040_3043del, XM_011515449.1:c.3037_3040del, XM_011515452.4:c.2506_2509del, XM_011515452.3:c.2506_2509del, XM_011515452.2:c.2506_2509del, XM_011515452.1:c.2503_2506del, NM_001260504.2:c.2959_2962del, NM_001260504.1:c.2959_2962del, XM_011515450.2:c.2959_2962del, XM_011515450.1:c.2959_2962del, NR_048542.2:n.3087_3090del, NR_048542.1:n.3139_3142del, NM_001260505.2:c.2959_2962del, NM_001260505.1:c.2959_2962del, NM_001122833.1:c.2959_2962del, NP_113602.2:p.Thr1010fs, XP_006715821.1:p.Thr832fs, NP_116562.2:p.Thr987fs, XP_011513751.2:p.Thr1014fs, XP_011513754.2:p.Thr836fs, NP_001247433.1:p.Thr987fs, XP_011513752.1:p.Thr987fs, NP_001247434.1:p.Thr987fs

        4.

        rs1480711510 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          7:23832269 (GRCh38)
          7:23871888 (GRCh37)
          Canonical SPDI:
          NC_000007.14:23832268:A:G
          Gene:
          STK31 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          NC_000007.14:g.23832269A>G, NC_000007.13:g.23871888A>G, NM_031414.5:c.2963A>G, NM_031414.4:c.2963A>G, XM_006715758.5:c.2429A>G, XM_006715758.4:c.2429A>G, XM_006715758.3:c.2429A>G, XM_006715758.2:c.2429A>G, XM_006715758.1:c.2429A>G, NM_032944.4:c.2894A>G, NM_032944.3:c.2894A>G, XM_011515449.4:c.2975A>G, XM_011515449.3:c.2975A>G, XM_011515449.2:c.2975A>G, XM_011515449.1:c.2972A>G, XM_011515452.4:c.2441A>G, XM_011515452.3:c.2441A>G, XM_011515452.2:c.2441A>G, XM_011515452.1:c.2438A>G, NM_001260504.2:c.2894A>G, NM_001260504.1:c.2894A>G, XM_011515450.2:c.2894A>G, XM_011515450.1:c.2894A>G, NR_048542.2:n.3022A>G, NR_048542.1:n.3074A>G, NM_001260505.2:c.2894A>G, NM_001260505.1:c.2894A>G, NM_001122833.1:c.2894A>G, NP_113602.2:p.Glu988Gly, XP_006715821.1:p.Glu810Gly, NP_116562.2:p.Glu965Gly, XP_011513751.2:p.Glu992Gly, XP_011513754.2:p.Glu814Gly, NP_001247433.1:p.Glu965Gly, XP_011513752.1:p.Glu965Gly, NP_001247434.1:p.Glu965Gly

          5.

          rs1480538891 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            7:23762834 (GRCh38)
            7:23802453 (GRCh37)
            Canonical SPDI:
            NC_000007.14:23762833:G:A
            Gene:
            STK31 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,coding_sequence_variant
            HGVS:
            NC_000007.14:g.23762834G>A, NC_000007.13:g.23802453G>A, NM_031414.5:c.1327G>A, NM_031414.4:c.1327G>A, XM_006715758.5:c.793G>A, XM_006715758.4:c.793G>A, XM_006715758.3:c.793G>A, XM_006715758.2:c.793G>A, XM_006715758.1:c.793G>A, NM_032944.4:c.1258G>A, NM_032944.3:c.1258G>A, XM_011515449.4:c.1339G>A, XM_011515449.3:c.1339G>A, XM_011515449.2:c.1339G>A, XM_011515449.1:c.1336G>A, XM_011515452.4:c.805G>A, XM_011515452.3:c.805G>A, XM_011515452.2:c.805G>A, XM_011515452.1:c.802G>A, NM_001260504.2:c.1258G>A, NM_001260504.1:c.1258G>A, XM_011515450.2:c.1258G>A, XM_011515450.1:c.1258G>A, NR_048542.2:n.1386G>A, NR_048542.1:n.1438G>A, NM_001260505.2:c.1327G>A, NM_001260505.1:c.1327G>A, NM_001122833.1:c.1258G>A, NP_113602.2:p.Glu443Lys, XP_006715821.1:p.Glu265Lys, NP_116562.2:p.Glu420Lys, XP_011513751.2:p.Glu447Lys, XP_011513754.2:p.Glu269Lys, NP_001247433.1:p.Glu420Lys, XP_011513752.1:p.Glu420Lys, NP_001247434.1:p.Glu443Lys

            6.

            rs1480251459 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              7:23754330 (GRCh38)
              7:23793949 (GRCh37)
              Canonical SPDI:
              NC_000007.14:23754329:T:C
              Gene:
              STK31 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000071/1 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:

              7.

              rs1479045653 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                7:23769709 (GRCh38)
                7:23809328 (GRCh37)
                Canonical SPDI:
                NC_000007.14:23769708:G:C
                Gene:
                STK31 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                C=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000007.14:g.23769709G>C, NC_000007.13:g.23809328G>C, NM_031414.5:c.1666G>C, NM_031414.4:c.1666G>C, XM_006715758.5:c.1132G>C, XM_006715758.4:c.1132G>C, XM_006715758.3:c.1132G>C, XM_006715758.2:c.1132G>C, XM_006715758.1:c.1132G>C, NM_032944.4:c.1597G>C, NM_032944.3:c.1597G>C, XM_011515449.4:c.1678G>C, XM_011515449.3:c.1678G>C, XM_011515449.2:c.1678G>C, XM_011515449.1:c.1675G>C, XM_011515452.4:c.1144G>C, XM_011515452.3:c.1144G>C, XM_011515452.2:c.1144G>C, XM_011515452.1:c.1141G>C, NM_001260504.2:c.1597G>C, NM_001260504.1:c.1597G>C, XM_011515450.2:c.1597G>C, XM_011515450.1:c.1597G>C, NR_048542.2:n.1725G>C, NR_048542.1:n.1777G>C, NM_001260505.2:c.1666G>C, NM_001260505.1:c.1666G>C, NM_001122833.1:c.1597G>C, NP_113602.2:p.Glu556Gln, XP_006715821.1:p.Glu378Gln, NP_116562.2:p.Glu533Gln, XP_011513751.2:p.Glu560Gln, XP_011513754.2:p.Glu382Gln, NP_001247433.1:p.Glu533Gln, XP_011513752.1:p.Glu533Gln, NP_001247434.1:p.Glu556Gln

                8.

                rs1478943282 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  7:23754458 (GRCh38)
                  7:23794077 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:23754457:A:G
                  Gene:
                  STK31 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000007.14:g.23754458A>G, NC_000007.13:g.23794077A>G, NM_031414.5:c.1277A>G, NM_031414.4:c.1277A>G, XM_006715758.5:c.743A>G, XM_006715758.4:c.743A>G, XM_006715758.3:c.743A>G, XM_006715758.2:c.743A>G, XM_006715758.1:c.743A>G, NM_032944.4:c.1208A>G, NM_032944.3:c.1208A>G, XM_011515449.4:c.1289A>G, XM_011515449.3:c.1289A>G, XM_011515449.2:c.1289A>G, XM_011515449.1:c.1286A>G, XM_011515452.4:c.755A>G, XM_011515452.3:c.755A>G, XM_011515452.2:c.755A>G, XM_011515452.1:c.752A>G, NM_001260504.2:c.1208A>G, NM_001260504.1:c.1208A>G, XM_011515450.2:c.1208A>G, XM_011515450.1:c.1208A>G, NR_048542.2:n.1336A>G, NR_048542.1:n.1388A>G, NM_001260505.2:c.1277A>G, NM_001260505.1:c.1277A>G, NM_001122833.1:c.1208A>G, NP_113602.2:p.Lys426Arg, XP_006715821.1:p.Lys248Arg, NP_116562.2:p.Lys403Arg, XP_011513751.2:p.Lys430Arg, XP_011513754.2:p.Lys252Arg, NP_001247433.1:p.Lys403Arg, XP_011513752.1:p.Lys403Arg, NP_001247434.1:p.Lys426Arg

                  9.

                  rs1477783384 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    7:23769112 (GRCh38)
                    7:23808731 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:23769111:G:A
                    Gene:
                    STK31 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,coding_sequence_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_000007.14:g.23769112G>A, NC_000007.13:g.23808731G>A, NM_031414.5:c.1534G>A, NM_031414.4:c.1534G>A, XM_006715758.5:c.1000G>A, XM_006715758.4:c.1000G>A, XM_006715758.3:c.1000G>A, XM_006715758.2:c.1000G>A, XM_006715758.1:c.1000G>A, NM_032944.4:c.1465G>A, NM_032944.3:c.1465G>A, XM_011515449.4:c.1546G>A, XM_011515449.3:c.1546G>A, XM_011515449.2:c.1546G>A, XM_011515449.1:c.1543G>A, XM_011515452.4:c.1012G>A, XM_011515452.3:c.1012G>A, XM_011515452.2:c.1012G>A, XM_011515452.1:c.1009G>A, NM_001260504.2:c.1465G>A, NM_001260504.1:c.1465G>A, XM_011515450.2:c.1465G>A, XM_011515450.1:c.1465G>A, NR_048542.2:n.1593G>A, NR_048542.1:n.1645G>A, NM_001260505.2:c.1534G>A, NM_001260505.1:c.1534G>A, NM_001122833.1:c.1465G>A, NP_113602.2:p.Val512Ile, XP_006715821.1:p.Val334Ile, NP_116562.2:p.Val489Ile, XP_011513751.2:p.Val516Ile, XP_011513754.2:p.Val338Ile, NP_001247433.1:p.Val489Ile, XP_011513752.1:p.Val489Ile, NP_001247434.1:p.Val512Ile

                    10.

                    rs1475769959 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      7:23754364 (GRCh38)
                      7:23793983 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:23754363:C:G
                      Gene:
                      STK31 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0.00007/1 (ALFA)
                      HGVS:
                      NC_000007.14:g.23754364C>G, NC_000007.13:g.23793983C>G, NM_031414.5:c.1183C>G, NM_031414.4:c.1183C>G, XM_006715758.5:c.649C>G, XM_006715758.4:c.649C>G, XM_006715758.3:c.649C>G, XM_006715758.2:c.649C>G, XM_006715758.1:c.649C>G, NM_032944.4:c.1114C>G, NM_032944.3:c.1114C>G, XM_011515449.4:c.1195C>G, XM_011515449.3:c.1195C>G, XM_011515449.2:c.1195C>G, XM_011515449.1:c.1192C>G, XM_011515452.4:c.661C>G, XM_011515452.3:c.661C>G, XM_011515452.2:c.661C>G, XM_011515452.1:c.658C>G, NM_001260504.2:c.1114C>G, NM_001260504.1:c.1114C>G, XM_011515450.2:c.1114C>G, XM_011515450.1:c.1114C>G, NR_048542.2:n.1242C>G, NR_048542.1:n.1294C>G, NM_001260505.2:c.1183C>G, NM_001260505.1:c.1183C>G, NM_001122833.1:c.1114C>G, NP_113602.2:p.Gln395Glu, XP_006715821.1:p.Gln217Glu, NP_116562.2:p.Gln372Glu, XP_011513751.2:p.Gln399Glu, XP_011513754.2:p.Gln221Glu, NP_001247433.1:p.Gln372Glu, XP_011513752.1:p.Gln372Glu, NP_001247434.1:p.Gln395Glu

                      11.

                      rs1473381342 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        7:23712255 (GRCh38)
                        7:23751874 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:23712254:A:G
                        Gene:
                        STK31 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000007.14:g.23712255A>G, NC_000007.13:g.23751874A>G, NM_031414.5:c.119A>G, NM_031414.4:c.119A>G, XM_006715758.5:c.119A>G, XM_006715758.4:c.119A>G, XM_006715758.3:c.119A>G, XM_006715758.2:c.119A>G, XM_006715758.1:c.119A>G, NM_032944.4:c.50A>G, NM_032944.3:c.50A>G, XM_011515449.4:c.131A>G, XM_011515449.3:c.131A>G, XM_011515449.2:c.131A>G, XM_011515449.1:c.128A>G, XM_011515452.4:c.131A>G, XM_011515452.3:c.131A>G, XM_011515452.2:c.131A>G, XM_011515452.1:c.128A>G, NM_001260504.2:c.50A>G, NM_001260504.1:c.50A>G, XM_011515450.2:c.50A>G, XM_011515450.1:c.50A>G, NR_048542.2:n.178A>G, NR_048542.1:n.230A>G, NM_001260505.2:c.119A>G, NM_001260505.1:c.119A>G, NM_001122833.1:c.50A>G, NP_113602.2:p.His40Arg, XP_006715821.1:p.His40Arg, NP_116562.2:p.His17Arg, XP_011513751.2:p.His44Arg, XP_011513754.2:p.His44Arg, NP_001247433.1:p.His17Arg, XP_011513752.1:p.His17Arg, NP_001247434.1:p.His40Arg

                        12.

                        rs1472829233 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          7:23788094 (GRCh38)
                          7:23827713 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:23788093:G:T
                          Gene:
                          STK31 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,stop_gained
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000007.14:g.23788094G>T, NC_000007.13:g.23827713G>T, NM_031414.5:c.2602G>T, NM_031414.4:c.2602G>T, XM_006715758.5:c.2068G>T, XM_006715758.4:c.2068G>T, XM_006715758.3:c.2068G>T, XM_006715758.2:c.2068G>T, XM_006715758.1:c.2068G>T, NM_032944.4:c.2533G>T, NM_032944.3:c.2533G>T, XM_011515449.4:c.2614G>T, XM_011515449.3:c.2614G>T, XM_011515449.2:c.2614G>T, XM_011515449.1:c.2611G>T, XM_011515452.4:c.2080G>T, XM_011515452.3:c.2080G>T, XM_011515452.2:c.2080G>T, XM_011515452.1:c.2077G>T, NM_001260504.2:c.2533G>T, NM_001260504.1:c.2533G>T, XM_011515450.2:c.2533G>T, XM_011515450.1:c.2533G>T, NR_048542.2:n.2661G>T, NR_048542.1:n.2713G>T, NM_001260505.2:c.2602G>T, NM_001260505.1:c.2602G>T, NM_001122833.1:c.2533G>T, NP_113602.2:p.Gly868Ter, XP_006715821.1:p.Gly690Ter, NP_116562.2:p.Gly845Ter, XP_011513751.2:p.Gly872Ter, XP_011513754.2:p.Gly694Ter, NP_001247433.1:p.Gly845Ter, XP_011513752.1:p.Gly845Ter, NP_001247434.1:p.Gly868Ter

                          13.

                          rs1470351241 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            7:23710219 (GRCh38)
                            7:23749838 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:23710218:G:A
                            Gene:
                            STK31 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000008/2 (TOPMED)
                            A=0.000014/2 (GnomAD)
                            HGVS:

                            14.

                            rs1469706882 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              7:23786529 (GRCh38)
                              7:23826148 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:23786528:A:G
                              Gene:
                              STK31 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.000047/1 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000007.14:g.23786529A>G, NC_000007.13:g.23826148A>G, NM_031414.5:c.2296A>G, NM_031414.4:c.2296A>G, XM_006715758.5:c.1762A>G, XM_006715758.4:c.1762A>G, XM_006715758.3:c.1762A>G, XM_006715758.2:c.1762A>G, XM_006715758.1:c.1762A>G, NM_032944.4:c.2227A>G, NM_032944.3:c.2227A>G, XM_011515449.4:c.2308A>G, XM_011515449.3:c.2308A>G, XM_011515449.2:c.2308A>G, XM_011515449.1:c.2305A>G, XM_011515452.4:c.1774A>G, XM_011515452.3:c.1774A>G, XM_011515452.2:c.1774A>G, XM_011515452.1:c.1771A>G, NM_001260504.2:c.2227A>G, NM_001260504.1:c.2227A>G, XM_011515450.2:c.2227A>G, XM_011515450.1:c.2227A>G, NR_048542.2:n.2355A>G, NR_048542.1:n.2407A>G, NM_001260505.2:c.2296A>G, NM_001260505.1:c.2296A>G, NM_001122833.1:c.2227A>G, NP_113602.2:p.Thr766Ala, XP_006715821.1:p.Thr588Ala, NP_116562.2:p.Thr743Ala, XP_011513751.2:p.Thr770Ala, XP_011513754.2:p.Thr592Ala, NP_001247433.1:p.Thr743Ala, XP_011513752.1:p.Thr743Ala, NP_001247434.1:p.Thr766Ala

                              15.

                              rs1468935869 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                7:23815160 (GRCh38)
                                7:23854779 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:23815159:A:G
                                Gene:
                                STK31 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000011/3 (TOPMED)
                                G=0.000014/2 (GnomAD)
                                G=0.000017/4 (GnomAD_exomes)
                                HGVS:
                                NC_000007.14:g.23815160A>G, NC_000007.13:g.23854779A>G, NM_031414.5:c.2777A>G, NM_031414.4:c.2777A>G, XM_006715758.5:c.2243A>G, XM_006715758.4:c.2243A>G, XM_006715758.3:c.2243A>G, XM_006715758.2:c.2243A>G, XM_006715758.1:c.2243A>G, NM_032944.4:c.2708A>G, NM_032944.3:c.2708A>G, XM_011515449.4:c.2789A>G, XM_011515449.3:c.2789A>G, XM_011515449.2:c.2789A>G, XM_011515449.1:c.2786A>G, XM_011515452.4:c.2255A>G, XM_011515452.3:c.2255A>G, XM_011515452.2:c.2255A>G, XM_011515452.1:c.2252A>G, NM_001260504.2:c.2708A>G, NM_001260504.1:c.2708A>G, XM_011515450.2:c.2708A>G, XM_011515450.1:c.2708A>G, NR_048542.2:n.2836A>G, NR_048542.1:n.2888A>G, NM_001122833.1:c.2708A>G, NP_113602.2:p.Gln926Arg, XP_006715821.1:p.Gln748Arg, NP_116562.2:p.Gln903Arg, XP_011513751.2:p.Gln930Arg, XP_011513754.2:p.Gln752Arg, NP_001247433.1:p.Gln903Arg, XP_011513752.1:p.Gln903Arg

                                16.

                                rs1467664496 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  7:23769648 (GRCh38)
                                  7:23809267 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:23769647:C:T
                                  Gene:
                                  STK31 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1467547887 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    7:23769671 (GRCh38)
                                    7:23809290 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:23769670:T:C
                                    Gene:
                                    STK31 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000054/1 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000007.14:g.23769671T>C, NC_000007.13:g.23809290T>C, NM_031414.5:c.1628T>C, NM_031414.4:c.1628T>C, XM_006715758.5:c.1094T>C, XM_006715758.4:c.1094T>C, XM_006715758.3:c.1094T>C, XM_006715758.2:c.1094T>C, XM_006715758.1:c.1094T>C, NM_032944.4:c.1559T>C, NM_032944.3:c.1559T>C, XM_011515449.4:c.1640T>C, XM_011515449.3:c.1640T>C, XM_011515449.2:c.1640T>C, XM_011515449.1:c.1637T>C, XM_011515452.4:c.1106T>C, XM_011515452.3:c.1106T>C, XM_011515452.2:c.1106T>C, XM_011515452.1:c.1103T>C, NM_001260504.2:c.1559T>C, NM_001260504.1:c.1559T>C, XM_011515450.2:c.1559T>C, XM_011515450.1:c.1559T>C, NR_048542.2:n.1687T>C, NR_048542.1:n.1739T>C, NM_001260505.2:c.1628T>C, NM_001260505.1:c.1628T>C, NM_001122833.1:c.1559T>C, NP_113602.2:p.Ile543Thr, XP_006715821.1:p.Ile365Thr, NP_116562.2:p.Ile520Thr, XP_011513751.2:p.Ile547Thr, XP_011513754.2:p.Ile369Thr, NP_001247433.1:p.Ile520Thr, XP_011513752.1:p.Ile520Thr, NP_001247434.1:p.Ile543Thr

                                    18.

                                    rs1466882879 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      7:23712118 (GRCh38)
                                      7:23751737 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:23712117:A:G
                                      Gene:
                                      STK31 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,non_coding_transcript_variant,initiator_codon_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      NC_000007.14:g.23712118A>G, NC_000007.13:g.23751737A>G, NM_031414.5:c.70A>G, NM_031414.4:c.70A>G, XM_006715758.5:c.70A>G, XM_006715758.4:c.70A>G, XM_006715758.3:c.70A>G, XM_006715758.2:c.70A>G, XM_006715758.1:c.70A>G, NM_032944.4:c.1A>G, NM_032944.3:c.1A>G, XM_011515449.4:c.82A>G, XM_011515449.3:c.82A>G, XM_011515449.2:c.82A>G, XM_011515449.1:c.79A>G, XM_011515452.4:c.82A>G, XM_011515452.3:c.82A>G, XM_011515452.2:c.82A>G, XM_011515452.1:c.79A>G, NM_001260504.2:c.1A>G, NM_001260504.1:c.1A>G, XM_011515450.2:c.1A>G, XM_011515450.1:c.1A>G, NR_048542.2:n.129A>G, NR_048542.1:n.181A>G, NM_001260505.2:c.70A>G, NM_001260505.1:c.70A>G, NM_001122833.1:c.1A>G, NP_113602.2:p.Met24Val, XP_006715821.1:p.Met24Val, NP_116562.2:p.Met1Val, XP_011513751.2:p.Met28Val, XP_011513754.2:p.Met28Val, NP_001247433.1:p.Met1Val, XP_011513752.1:p.Met1Val, NP_001247434.1:p.Met24Val

                                      19.

                                      rs1464432625 [Homo sapiens]
                                        Variant type:
                                        INS
                                        Alleles:
                                        ->TATCAAAATTCAAACTCTATATTAAA [Show Flanks]
                                        Chromosome:
                                        7:23712270 (GRCh38)
                                        7:23751890 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:23712270::TATCAAAATTCAAACTCTATATTAAA
                                        Gene:
                                        STK31 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,inframe_insertion,stop_gained
                                        HGVS:
                                        NC_000007.14:g.23712270_23712271insTATCAAAATTCAAACTCTATATTAAA, NC_000007.13:g.23751889_23751890insTATCAAAATTCAAACTCTATATTAAA, NM_031414.5:c.134_135insTATCAAAATTCAAACTCTATATTAAA, NM_031414.4:c.134_135insTATCAAAATTCAAACTCTATATTAAA, XM_006715758.5:c.134_135insTATCAAAATTCAAACTCTATATTAAA, XM_006715758.4:c.134_135insTATCAAAATTCAAACTCTATATTAAA, XM_006715758.3:c.134_135insTATCAAAATTCAAACTCTATATTAAA, XM_006715758.2:c.134_135insTATCAAAATTCAAACTCTATATTAAA, XM_006715758.1:c.134_135insTATCAAAATTCAAACTCTATATTAAA, NM_032944.4:c.65_66insTATCAAAATTCAAACTCTATATTAAA, NM_032944.3:c.65_66insTATCAAAATTCAAACTCTATATTAAA, XM_011515449.4:c.146_147insTATCAAAATTCAAACTCTATATTAAA, XM_011515449.3:c.146_147insTATCAAAATTCAAACTCTATATTAAA, XM_011515449.2:c.146_147insTATCAAAATTCAAACTCTATATTAAA, XM_011515449.1:c.143_144insTATCAAAATTCAAACTCTATATTAAA, XM_011515452.4:c.146_147insTATCAAAATTCAAACTCTATATTAAA, XM_011515452.3:c.146_147insTATCAAAATTCAAACTCTATATTAAA, XM_011515452.2:c.146_147insTATCAAAATTCAAACTCTATATTAAA, XM_011515452.1:c.143_144insTATCAAAATTCAAACTCTATATTAAA, NM_001260504.2:c.65_66insTATCAAAATTCAAACTCTATATTAAA, NM_001260504.1:c.65_66insTATCAAAATTCAAACTCTATATTAAA, XM_011515450.2:c.65_66insTATCAAAATTCAAACTCTATATTAAA, XM_011515450.1:c.65_66insTATCAAAATTCAAACTCTATATTAAA, NR_048542.2:n.193_194insTATCAAAATTCAAACTCTATATTAAA, NR_048542.1:n.245_246insTATCAAAATTCAAACTCTATATTAAA, NM_001260505.2:c.134_135insTATCAAAATTCAAACTCTATATTAAA, NM_001260505.1:c.134_135insTATCAAAATTCAAACTCTATATTAAA, NM_001122833.1:c.65_66insTATCAAAATTCAAACTCTATATTAAA, NP_113602.2:p.Thr46_Phe47insIleLysIleGlnThrLeuTyrTer, XP_006715821.1:p.Thr46_Phe47insIleLysIleGlnThrLeuTyrTer, NP_116562.2:p.Thr23_Phe24insIleLysIleGlnThrLeuTyrTer, XP_011513751.2:p.Thr50_Phe51insIleLysIleGlnThrLeuTyrTer, XP_011513754.2:p.Thr50_Phe51insIleLysIleGlnThrLeuTyrTer, NP_001247433.1:p.Thr23_Phe24insIleLysIleGlnThrLeuTyrTer, XP_011513752.1:p.Thr23_Phe24insIleLysIleGlnThrLeuTyrTer, NP_001247434.1:p.Thr46_Phe47insIleLysIleGlnThrLeuTyrTer

                                        20.

                                        rs1464353639 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          7:23717495 (GRCh38)
                                          7:23757114 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:23717494:T:G
                                          Gene:
                                          STK31 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000007.14:g.23717495T>G, NC_000007.13:g.23757114T>G, NM_031414.5:c.165T>G, NM_031414.4:c.165T>G, XM_006715758.5:c.165T>G, XM_006715758.4:c.165T>G, XM_006715758.3:c.165T>G, XM_006715758.2:c.165T>G, XM_006715758.1:c.165T>G, NM_032944.4:c.96T>G, NM_032944.3:c.96T>G, XM_011515449.4:c.177T>G, XM_011515449.3:c.177T>G, XM_011515449.2:c.177T>G, XM_011515449.1:c.174T>G, XM_011515452.4:c.177T>G, XM_011515452.3:c.177T>G, XM_011515452.2:c.177T>G, XM_011515452.1:c.174T>G, NM_001260504.2:c.96T>G, NM_001260504.1:c.96T>G, XM_011515450.2:c.96T>G, XM_011515450.1:c.96T>G, NR_048542.2:n.224T>G, NR_048542.1:n.276T>G, NM_001260505.2:c.165T>G, NM_001260505.1:c.165T>G, NM_001122833.1:c.96T>G, NP_113602.2:p.Asn55Lys, XP_006715821.1:p.Asn55Lys, NP_116562.2:p.Asn32Lys, XP_011513751.2:p.Asn59Lys, XP_011513754.2:p.Asn59Lys, NP_001247433.1:p.Asn32Lys, XP_011513752.1:p.Asn32Lys, NP_001247434.1:p.Asn55Lys

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