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Items: 1 to 20 of 1000

1.

rs1491465061 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->A [Show Flanks]
    Chromosome:
    9:131505162 (GRCh38)
    9:134380550 (GRCh37)
    Canonical SPDI:
    NC_000009.12:131505162:A:AA
    Gene:
    POMT1 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    AA=0./0 (ALFA)
    A=0.000014/2 (GnomAD)
    HGVS:

    2.

    rs1491456458 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AC>- [Show Flanks]
      Chromosome:
      9:131516079 (GRCh38)
      9:134391466 (GRCh37)
      Canonical SPDI:
      NC_000009.12:131516075:CACAC:CAC
      Gene:
      POMT1 (Varview), LOC105376301 (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      CAC=0./0 (ALFA)
      HGVS:

      3.

      rs1491400147 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AT>- [Show Flanks]
        Chromosome:
        9:131504747 (GRCh38)
        9:134380134 (GRCh37)
        Canonical SPDI:
        NC_000009.12:131504746:AT:
        Gene:
        POMT1 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        -=0.00026/14 (GnomAD)
        HGVS:

        4.

        rs1491379835 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->TA [Show Flanks]
          Chromosome:
          9:131516076 (GRCh38)
          9:134391464 (GRCh37)
          Canonical SPDI:
          NC_000009.12:131516076::TA
          Gene:
          POMT1 (Varview), LOC105376301 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TA=0./0 (ALFA)
          TA=0.001603/200 (GnomAD)
          TA=0.003311/55 (TOMMO)
          HGVS:

          5.

          rs1491095769 has merged into rs1304476835 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTT>-,TT,TTTTTT [Show Flanks]
            Chromosome:
            9:131504793 (GRCh38)
            9:134380180 (GRCh37)
            Canonical SPDI:
            NC_000009.12:131504791:TTTTT:T,NC_000009.12:131504791:TTTTT:TTT,NC_000009.12:131504791:TTTTT:TTTTTTT
            Gene:
            POMT1 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTT=0./0 (ALFA)
            -=0.0003/5 (TOMMO)
            HGVS:

            6.

            rs1490854846 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              9:131514371 (GRCh38)
              9:134389758 (GRCh37)
              Canonical SPDI:
              NC_000009.12:131514370:A:G
              Gene:
              POMT1 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000014/2 (GnomAD)
              G=0.00003/8 (TOPMED)
              HGVS:

              7.

              rs1490816371 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                9:131521457 (GRCh38)
                9:134396844 (GRCh37)
                Canonical SPDI:
                NC_000009.12:131521456:C:T
                Gene:
                POMT1 (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                HGVS:
                NC_000009.12:g.131521457C>T, NC_000009.11:g.134396844C>T, NG_008896.2:g.23556C>T, NM_007171.4:c.1876C>T, NM_007171.3:c.1876C>T, NM_001353198.2:c.1714C>T, NM_001353198.1:c.1714C>T, NM_001353193.2:c.1876C>T, NM_001353193.1:c.1876C>T, NM_001136113.2:c.1810C>T, NM_001136113.1:c.1810C>T, NR_148399.2:n.2375C>T, NR_148399.1:n.2391C>T, NR_148395.2:n.2135C>T, NR_148395.1:n.2151C>T, NM_001353194.2:c.1648C>T, NM_001353194.1:c.1648C>T, NM_001077365.2:c.1810C>T, NM_001077365.1:c.1810C>T, NR_148393.2:n.1983C>T, NR_148393.1:n.1999C>T, NR_148400.2:n.1974C>T, NR_148400.1:n.1990C>T, NM_001353197.2:c.1714C>T, NM_001353197.1:c.1714C>T, NM_001353196.2:c.1720C>T, NM_001353196.1:c.1720C>T, NR_148397.2:n.1894C>T, NR_148397.1:n.1910C>T, NM_001353195.2:c.1459C>T, NM_001353195.1:c.1459C>T, NR_148392.2:n.2062C>T, NR_148392.1:n.2078C>T, NR_148398.2:n.1849C>T, NR_148398.1:n.1865C>T, NM_001077366.2:c.1648C>T, NM_001077366.1:c.1648C>T, NM_001353199.2:c.1525C>T, NM_001353199.1:c.1525C>T, NR_148396.2:n.1769C>T, NR_148396.1:n.1785C>T, NR_148394.2:n.1737C>T, NR_148394.1:n.1753C>T, NM_001136114.2:c.1459C>T, NM_001136114.1:c.1459C>T, NR_148391.2:n.1844C>T, NR_148391.1:n.1860C>T, NM_001353200.2:c.1354C>T, NM_001353200.1:c.1354C>T, NM_001374689.1:c.1798C>T, NM_001374691.1:c.1459C>T, NM_001374692.1:c.1459C>T, NM_001374690.1:c.1591C>T, NM_001374695.1:c.1420C>T, NM_001374693.1:c.1459C>T, NM_001411024.1:c.679C>T, XM_011518140.3:c.1729C>T, XM_011518140.2:c.1729C>T, XM_011518140.1:c.1729C>T, XM_011518141.3:c.1663C>T, XM_011518141.2:c.1663C>T, XM_011518141.1:c.1663C>T, XR_001746160.3:n.1996C>T, XR_001746160.2:n.1980C>T, XR_001746160.1:n.1986C>T, XM_011518142.3:c.1567C>T, XM_011518142.2:c.1567C>T, XM_011518142.1:c.1567C>T, XM_011518143.3:c.1561C>T, XM_011518143.2:c.1561C>T, XM_011518143.1:c.1561C>T, XM_011518145.3:c.1420C>T, XM_011518145.2:c.1420C>T, XM_011518145.1:c.1420C>T, XM_024447380.2:c.679C>T, XR_007061227.1:n.1910C>T, XM_047422640.1:c.1501C>T, XR_007061226.1:n.1849C>T, XR_007061229.1:n.1737C>T, XR_007061228.1:n.1697C>T, XR_007061230.1:n.1590C>T, XM_047422642.1:c.748C>T, NP_009102.4:p.His626Tyr, NP_001340127.2:p.His572Tyr, NP_001340122.2:p.His626Tyr, NP_001129585.1:p.His604Tyr, NP_001340123.1:p.His550Tyr, NP_001070833.1:p.His604Tyr, NP_001340126.2:p.His572Tyr, NP_001340125.1:p.His574Tyr, NP_001340124.1:p.His487Tyr, NP_001070834.1:p.His550Tyr, NP_001340128.2:p.His509Tyr, NP_001129586.1:p.His487Tyr, NP_001340129.1:p.His452Tyr, NP_001361618.1:p.His600Tyr, NP_001361620.1:p.His487Tyr, NP_001361621.1:p.His487Tyr, NP_001361619.1:p.His531Tyr, NP_001361624.1:p.His474Tyr, NP_001361622.1:p.His487Tyr, XP_011516442.1:p.His577Tyr, XP_011516443.1:p.His555Tyr, XP_011516444.1:p.His523Tyr, XP_011516445.1:p.His521Tyr, XP_011516447.1:p.His474Tyr, XP_024303148.1:p.His227Tyr, XP_047278596.1:p.His501Tyr, XP_047278598.1:p.His250Tyr

                8.

                rs1490809347 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  GG>- [Show Flanks]
                  Chromosome:
                  9:131516028 (GRCh38)
                  9:134391415 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:131516027:GG:
                  Gene:
                  POMT1 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  -=0.00029/28 (GnomAD)
                  HGVS:

                  9.

                  rs1490612159 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    9:131503090 (GRCh38)
                    9:134378477 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:131503089:C:G
                    Gene:
                    POMT1 (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1490555858 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      9:131502451 (GRCh38)
                      9:134377838 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:131502450:C:T
                      Gene:
                      POMT1 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      HGVS:

                      11.

                      rs1490338364 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        9:131516203 (GRCh38)
                        9:134391590 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:131516202:C:T
                        Gene:
                        POMT1 (Varview), LOC105376301 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000008/2 (TOPMED)
                        T=0.000015/2 (GnomAD)
                        T=0.000035/1 (TOMMO)
                        HGVS:

                        12.

                        rs1490284093 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          9:131502537 (GRCh38)
                          9:134377924 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:131502536:G:A
                          Gene:
                          POMT1 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:

                          13.

                          rs1490228293 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->CCTGGGAATGGAGGAAGAAGCC [Show Flanks]
                            Chromosome:
                            9:131501636 (GRCh38)
                            9:134377024 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:131501636:CCCTGGGAATGGAGGAAGAAGCC:CCCTGGGAATGGAGGAAGAAGCCCCTGGGAATGGAGGAAGAAGCC
                            Gene:
                            POMT1 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            CCCTGGGAATGGAGGAAGAAGCCCCTGGGAATGGAGGAAGAAGCC=0./0 (ALFA)
                            CCCTGGGAATGGAGGAAGAAGC=0.000036/5 (GnomAD)
                            CCCTGGGAATGGAGGAAGAAGC=0.000312/2 (1000Genomes)
                            HGVS:

                            14.

                            rs1490178024 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              9:131508567 (GRCh38)
                              9:134383954 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:131508566:C:T
                              Gene:
                              POMT1 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              T=0.000014/2 (GnomAD)
                              HGVS:

                              15.

                              rs1489874585 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                9:131512677 (GRCh38)
                                9:134388064 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:131512676:T:C
                                Gene:
                                POMT1 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1489847351 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  CGGAGCACTTCCTCACA>-,CGGAGCACTTCCTCACACGGAGCACTTCCTCACA [Show Flanks]
                                  Chromosome:
                                  9:131516394 (GRCh38)
                                  9:134391781 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:131516381:CACTTCCTCACACGGAGCACTTCCTCACA:CACTTCCTCACA,NC_000009.12:131516381:CACTTCCTCACACGGAGCACTTCCTCACA:CACTTCCTCACACGGAGCACTTCCTCACACGGAGCACTTCCTCACA
                                  Gene:
                                  POMT1 (Varview), LOC105376301 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  CACTTCCTCACA=0./0 (ALFA)
                                  HGVS:

                                  17.

                                  rs1489831148 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    T>- [Show Flanks]
                                    Chromosome:
                                    9:131523068 (GRCh38)
                                    9:134398455 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:131523067:T:
                                    Gene:
                                    POMT1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,frameshift_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    -=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000009.12:g.131523068del, NC_000009.11:g.134398455del, NG_008896.2:g.25167del, NM_007171.4:c.2206del, NM_007171.3:c.2206del, NM_001353198.2:c.2044del, NM_001353198.1:c.2044del, NM_001353193.2:c.2206del, NM_001353193.1:c.2206del, NM_001136113.2:c.2140del, NM_001136113.1:c.2140del, NR_148399.2:n.2705del, NR_148399.1:n.2721del, NR_148395.2:n.2465del, NR_148395.1:n.2481del, NM_001353194.2:c.1978del, NM_001353194.1:c.1978del, NM_001077365.2:c.2140del, NM_001077365.1:c.2140del, NR_148393.2:n.2313del, NR_148393.1:n.2329del, NR_148400.2:n.2304del, NR_148400.1:n.2320del, NM_001353197.2:c.2044del, NM_001353197.1:c.2044del, NM_001353196.2:c.2050del, NM_001353196.1:c.2050del, NR_148397.2:n.2224del, NR_148397.1:n.2240del, NM_001353195.2:c.1789del, NM_001353195.1:c.1789del, NR_148392.2:n.2392del, NR_148392.1:n.2408del, NR_148398.2:n.2179del, NR_148398.1:n.2195del, NM_001077366.2:c.1978del, NM_001077366.1:c.1978del, NM_001353199.2:c.1855del, NM_001353199.1:c.1855del, NR_148396.2:n.2099del, NR_148396.1:n.2115del, NR_148394.2:n.2067del, NR_148394.1:n.2083del, NM_001136114.2:c.1789del, NM_001136114.1:c.1789del, NR_148391.2:n.2174del, NR_148391.1:n.2190del, NM_001353200.2:c.1684del, NM_001353200.1:c.1684del, NM_001374689.1:c.2128del, NM_001374691.1:c.1789del, NM_001374692.1:c.1789del, NM_001374690.1:c.1921del, NM_001374695.1:c.1750del, NM_001374693.1:c.1789del, NM_001411024.1:c.1009del, XM_011518140.3:c.2059del, XM_011518140.2:c.2059del, XM_011518140.1:c.2059del, XM_011518141.3:c.1993del, XM_011518141.2:c.1993del, XM_011518141.1:c.1993del, XR_001746160.3:n.2326del, XR_001746160.2:n.2310del, XR_001746160.1:n.2316del, XM_011518142.3:c.1897del, XM_011518142.2:c.1897del, XM_011518142.1:c.1897del, XM_011518143.3:c.1891del, XM_011518143.2:c.1891del, XM_011518143.1:c.1891del, XM_011518145.3:c.1750del, XM_011518145.2:c.1750del, XM_011518145.1:c.1750del, XM_024447380.2:c.1009del, XR_007061227.1:n.2240del, XM_047422640.1:c.1831del, XR_007061226.1:n.2179del, XR_007061229.1:n.2067del, XR_007061228.1:n.2027del, XR_007061230.1:n.1920del, XM_047422642.1:c.1078del, NP_009102.4:p.Trp736fs, NP_001340127.2:p.Trp682fs, NP_001340122.2:p.Trp736fs, NP_001129585.1:p.Trp714fs, NP_001340123.1:p.Trp660fs, NP_001070833.1:p.Trp714fs, NP_001340126.2:p.Trp682fs, NP_001340125.1:p.Trp684fs, NP_001340124.1:p.Trp597fs, NP_001070834.1:p.Trp660fs, NP_001340128.2:p.Trp619fs, NP_001129586.1:p.Trp597fs, NP_001340129.1:p.Trp562fs, NP_001361618.1:p.Trp710fs, NP_001361620.1:p.Trp597fs, NP_001361621.1:p.Trp597fs, NP_001361619.1:p.Trp641fs, NP_001361624.1:p.Trp584fs, NP_001361622.1:p.Trp597fs, XP_011516442.1:p.Trp687fs, XP_011516443.1:p.Trp665fs, XP_011516444.1:p.Trp633fs, XP_011516445.1:p.Trp631fs, XP_011516447.1:p.Trp584fs, XP_024303148.1:p.Trp337fs, XP_047278596.1:p.Trp611fs, XP_047278598.1:p.Trp360fs

                                    18.

                                    rs1489679972 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      9:131502039 (GRCh38)
                                      9:134377426 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:131502038:C:G
                                      Gene:
                                      POMT1 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000008/2 (TOPMED)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1489668626 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        9:131510007 (GRCh38)
                                        9:134385394 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:131510006:A:T
                                        Gene:
                                        POMT1 (Varview)
                                        Functional Consequence:
                                        intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000009.12:g.131510007A>T, NC_000009.11:g.134385394A>T, NG_008896.2:g.12106A>T, NM_007171.4:c.710A>T, NM_007171.3:c.710A>T, NM_001353198.2:c.548A>T, NM_001353198.1:c.548A>T, NM_001353193.2:c.710A>T, NM_001353193.1:c.710A>T, NM_001353197.2:c.548A>T, NM_001353197.1:c.548A>T, NR_148392.2:n.896A>T, NR_148392.1:n.912A>T, NM_001353199.2:c.359A>T, NM_001353199.1:c.359A>T, NM_001374689.1:c.548A>T, NM_001374695.1:c.254A>T, XM_011518140.3:c.563A>T, XM_011518140.2:c.563A>T, XM_011518140.1:c.563A>T, XM_011518142.3:c.401A>T, XM_011518142.2:c.401A>T, XM_011518142.1:c.401A>T, XM_011518145.3:c.254A>T, XM_011518145.2:c.254A>T, XM_011518145.1:c.254A>T, XR_007061227.1:n.744A>T, XM_047422641.1:c.710A>T, NP_009102.4:p.Asp237Val, NP_001340127.2:p.Asp183Val, NP_001340122.2:p.Asp237Val, NP_001340126.2:p.Asp183Val, NP_001340128.2:p.Asp120Val, NP_001361618.1:p.Asp183Val, NP_001361624.1:p.Asp85Val, XP_011516442.1:p.Asp188Val, XP_011516444.1:p.Asp134Val, XP_011516447.1:p.Asp85Val, XP_047278597.1:p.Asp237Val

                                        20.

                                        rs1489617043 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          9:131520096 (GRCh38)
                                          9:134395483 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:131520095:T:C
                                          Gene:
                                          POMT1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000009.12:g.131520096T>C, NC_000009.11:g.134395483T>C, NG_008896.2:g.22195T>C, NM_007171.4:c.1667T>C, NM_007171.3:c.1667T>C, NM_001353198.2:c.1505T>C, NM_001353198.1:c.1505T>C, NM_001353193.2:c.1667T>C, NM_001353193.1:c.1667T>C, NM_001136113.2:c.1601T>C, NM_001136113.1:c.1601T>C, NR_148399.2:n.2166T>C, NR_148399.1:n.2182T>C, NR_148395.2:n.1926T>C, NR_148395.1:n.1942T>C, NM_001353194.2:c.1439T>C, NM_001353194.1:c.1439T>C, NM_001077365.2:c.1601T>C, NM_001077365.1:c.1601T>C, NR_148393.2:n.1774T>C, NR_148393.1:n.1790T>C, NR_148400.2:n.1765T>C, NR_148400.1:n.1781T>C, NM_001353197.2:c.1505T>C, NM_001353197.1:c.1505T>C, NM_001353196.2:c.1511T>C, NM_001353196.1:c.1511T>C, NR_148397.2:n.1685T>C, NR_148397.1:n.1701T>C, NM_001353195.2:c.1250T>C, NM_001353195.1:c.1250T>C, NR_148392.2:n.1853T>C, NR_148392.1:n.1869T>C, NR_148398.2:n.1640T>C, NR_148398.1:n.1656T>C, NM_001077366.2:c.1439T>C, NM_001077366.1:c.1439T>C, NM_001353199.2:c.1316T>C, NM_001353199.1:c.1316T>C, NR_148396.2:n.1560T>C, NR_148396.1:n.1576T>C, NR_148394.2:n.1528T>C, NR_148394.1:n.1544T>C, NM_001136114.2:c.1250T>C, NM_001136114.1:c.1250T>C, NR_148391.2:n.1635T>C, NR_148391.1:n.1651T>C, NM_001353200.2:c.1145T>C, NM_001353200.1:c.1145T>C, NM_001374689.1:c.1589T>C, NM_001374691.1:c.1250T>C, NM_001374692.1:c.1250T>C, NM_001374690.1:c.1382T>C, NM_001374695.1:c.1211T>C, NM_001374693.1:c.1250T>C, NM_001411024.1:c.470T>C, XM_011518140.3:c.1520T>C, XM_011518140.2:c.1520T>C, XM_011518140.1:c.1520T>C, XM_011518141.3:c.1454T>C, XM_011518141.2:c.1454T>C, XM_011518141.1:c.1454T>C, XR_001746160.3:n.1787T>C, XR_001746160.2:n.1771T>C, XR_001746160.1:n.1777T>C, XM_011518142.3:c.1358T>C, XM_011518142.2:c.1358T>C, XM_011518142.1:c.1358T>C, XM_011518143.3:c.1352T>C, XM_011518143.2:c.1352T>C, XM_011518143.1:c.1352T>C, XM_011518145.3:c.1211T>C, XM_011518145.2:c.1211T>C, XM_011518145.1:c.1211T>C, XM_024447380.2:c.470T>C, XR_007061227.1:n.1701T>C, XM_047422640.1:c.1292T>C, XR_007061226.1:n.1640T>C, XR_007061229.1:n.1528T>C, XR_007061228.1:n.1488T>C, XR_007061230.1:n.1381T>C, XM_047422642.1:c.539T>C, NP_009102.4:p.Leu556Pro, NP_001340127.2:p.Leu502Pro, NP_001340122.2:p.Leu556Pro, NP_001129585.1:p.Leu534Pro, NP_001340123.1:p.Leu480Pro, NP_001070833.1:p.Leu534Pro, NP_001340126.2:p.Leu502Pro, NP_001340125.1:p.Leu504Pro, NP_001340124.1:p.Leu417Pro, NP_001070834.1:p.Leu480Pro, NP_001340128.2:p.Leu439Pro, NP_001129586.1:p.Leu417Pro, NP_001340129.1:p.Leu382Pro, NP_001361618.1:p.Leu530Pro, NP_001361620.1:p.Leu417Pro, NP_001361621.1:p.Leu417Pro, NP_001361619.1:p.Leu461Pro, NP_001361624.1:p.Leu404Pro, NP_001361622.1:p.Leu417Pro, XP_011516442.1:p.Leu507Pro, XP_011516443.1:p.Leu485Pro, XP_011516444.1:p.Leu453Pro, XP_011516445.1:p.Leu451Pro, XP_011516447.1:p.Leu404Pro, XP_024303148.1:p.Leu157Pro, XP_047278596.1:p.Leu431Pro, XP_047278598.1:p.Leu180Pro

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