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Items: 1 to 20 of 829

1.

rs1490457659 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    15:58887107 (GRCh38)
    15:59179306 (GRCh37)
    Canonical SPDI:
    NC_000015.10:58887106:T:G
    Gene:
    SLTM (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,downstream_transcript_variant,genic_downstream_transcript_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000015.10:g.58887107T>G, NC_000015.9:g.59179306T>G, NM_024755.4:c.2703A>C, NM_024755.3:c.2703A>C, NM_024755.2:c.2703A>C, XM_006720686.4:c.2457A>C, XM_006720686.3:c.2862A>C, XM_006720686.2:c.2457A>C, XM_006720686.1:c.2862A>C, XM_011522029.3:c.2565A>C, XM_011522029.2:c.2565A>C, XM_011522029.1:c.2565A>C, NM_001013843.3:c.2649A>C, NM_001013843.2:c.2649A>C, NM_001013843.1:c.2649A>C, XM_011522031.3:c.2019A>C, XM_011522031.2:c.2019A>C, XM_011522031.1:c.2019A>C, XM_011522022.2:c.2724A>C, XM_011522022.1:c.3129A>C, XM_017022579.2:c.2544A>C, XM_017022579.1:c.2544A>C, XM_011522023.2:c.2670A>C, XM_011522023.1:c.3075A>C, XM_011522024.2:c.2574A>C, XM_011522024.1:c.2979A>C, XM_017022576.2:c.2499A>C, XM_017022576.1:c.2499A>C, XM_011522027.2:c.2478A>C, XM_011522027.1:c.2883A>C, XM_011522028.2:c.2424A>C, XM_011522028.1:c.2829A>C, XM_017022578.2:c.2403A>C, XM_017022578.1:c.2808A>C, NR_135043.2:n.2260A>C, NR_135043.1:n.2257A>C, NR_135042.2:n.2150A>C, NR_135042.1:n.2147A>C, NM_017968.2:c.*1502A>C, XM_047433052.1:c.2019A>C, XM_047433048.1:c.2490A>C, XM_047433051.1:c.2019A>C, XM_047433043.1:c.2553A>C, XM_047433044.1:c.2520A>C, XM_047433049.1:c.2298A>C, XM_047433045.1:c.2307A>C, XM_047433046.1:c.2253A>C, NM_017968.1:c.1035A>C

    2.

    rs1490417364 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      15:58890377 (GRCh38)
      15:59182576 (GRCh37)
      Canonical SPDI:
      NC_000015.10:58890376:C:T
      Gene:
      SLTM (Varview)
      Functional Consequence:
      synonymous_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000015/4 (TOPMED)
      HGVS:
      NC_000015.10:g.58890377C>T, NC_000015.9:g.59182576C>T, NM_024755.4:c.1983G>A, NM_024755.3:c.1983G>A, NM_024755.2:c.1983G>A, XM_006720686.4:c.1737G>A, XM_006720686.3:c.2142G>A, XM_006720686.2:c.1737G>A, XM_006720686.1:c.2142G>A, XM_011522029.3:c.1845G>A, XM_011522029.2:c.1845G>A, XM_011522029.1:c.1845G>A, NM_001013843.3:c.1929G>A, NM_001013843.2:c.1929G>A, NM_001013843.1:c.1929G>A, XM_011522031.3:c.1299G>A, XM_011522031.2:c.1299G>A, XM_011522031.1:c.1299G>A, XM_011522030.3:c.2004G>A, XM_011522030.2:c.2409G>A, XM_011522030.1:c.2409G>A, XM_011522022.2:c.2004G>A, XM_011522022.1:c.2409G>A, XM_017022579.2:c.1824G>A, XM_017022579.1:c.1824G>A, XM_011522023.2:c.1950G>A, XM_011522023.1:c.2355G>A, XM_011522024.2:c.1854G>A, XM_011522024.1:c.2259G>A, XM_017022576.2:c.1779G>A, XM_017022576.1:c.1779G>A, XM_011522027.2:c.1758G>A, XM_011522027.1:c.2163G>A, XM_011522028.2:c.1704G>A, XM_011522028.1:c.2109G>A, XM_017022578.2:c.1683G>A, XM_017022578.1:c.2088G>A, NR_135043.2:n.1540G>A, NR_135043.1:n.1537G>A, NR_135042.2:n.1430G>A, NR_135042.1:n.1427G>A, NM_017968.2:c.*782G>A, XM_047433052.1:c.1299G>A, XM_047433048.1:c.1770G>A, XM_047433051.1:c.1299G>A, XM_047433043.1:c.1833G>A, XM_047433044.1:c.1800G>A, XM_047433049.1:c.1578G>A, XM_047433045.1:c.1587G>A, XM_047433046.1:c.1533G>A, NM_017968.1:c.315G>A

      3.

      rs1489471217 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        15:58887362 (GRCh38)
        15:59179561 (GRCh37)
        Canonical SPDI:
        NC_000015.10:58887361:C:T
        Gene:
        SLTM (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000015.10:g.58887362C>T, NC_000015.9:g.59179561C>T, NM_024755.4:c.2554G>A, NM_024755.3:c.2554G>A, NM_024755.2:c.2554G>A, XM_006720686.4:c.2308G>A, XM_006720686.3:c.2713G>A, XM_006720686.2:c.2308G>A, XM_006720686.1:c.2713G>A, XM_011522029.3:c.2416G>A, XM_011522029.2:c.2416G>A, XM_011522029.1:c.2416G>A, NM_001013843.3:c.2500G>A, NM_001013843.2:c.2500G>A, NM_001013843.1:c.2500G>A, XM_011522031.3:c.1870G>A, XM_011522031.2:c.1870G>A, XM_011522031.1:c.1870G>A, XM_011522022.2:c.2575G>A, XM_011522022.1:c.2980G>A, XM_017022579.2:c.2395G>A, XM_017022579.1:c.2395G>A, XM_011522023.2:c.2521G>A, XM_011522023.1:c.2926G>A, XM_011522024.2:c.2425G>A, XM_011522024.1:c.2830G>A, XM_017022576.2:c.2350G>A, XM_017022576.1:c.2350G>A, XM_011522027.2:c.2329G>A, XM_011522027.1:c.2734G>A, XM_011522028.2:c.2275G>A, XM_011522028.1:c.2680G>A, XM_017022578.2:c.2254G>A, XM_017022578.1:c.2659G>A, NR_135043.2:n.2111G>A, NR_135043.1:n.2108G>A, NR_135042.2:n.2001G>A, NR_135042.1:n.1998G>A, NM_017968.2:c.*1353G>A, XM_047433052.1:c.1870G>A, XM_047433048.1:c.2341G>A, XM_047433051.1:c.1870G>A, XM_047433043.1:c.2404G>A, XM_047433044.1:c.2371G>A, XM_047433049.1:c.2149G>A, XM_047433045.1:c.2158G>A, XM_047433046.1:c.2104G>A, NM_017968.1:c.886G>A, NP_079031.2:p.Glu852Lys, XP_006720749.4:p.Glu770Lys, XP_011520331.1:p.Glu806Lys, NP_001013865.1:p.Glu834Lys, XP_011520333.1:p.Glu624Lys, XP_011520324.2:p.Glu859Lys, XP_016878068.1:p.Glu799Lys, XP_011520325.2:p.Glu841Lys, XP_011520326.2:p.Glu809Lys, XP_016878065.1:p.Glu784Lys, XP_011520329.2:p.Glu777Lys, XP_011520330.2:p.Glu759Lys, XP_016878067.2:p.Glu752Lys, XP_047289008.1:p.Glu624Lys, XP_047289004.1:p.Glu781Lys, XP_047289007.1:p.Glu624Lys, XP_047288999.1:p.Glu802Lys, XP_047289000.1:p.Glu791Lys, XP_047289005.1:p.Glu717Lys, XP_047289001.1:p.Glu720Lys, XP_047289002.1:p.Glu702Lys

        4.

        rs1489368398 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          15:58890298 (GRCh38)
          15:59182497 (GRCh37)
          Canonical SPDI:
          NC_000015.10:58890297:G:A
          Gene:
          SLTM (Varview)
          Functional Consequence:
          missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000071/1 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000008/2 (GnomAD_exomes)
          HGVS:
          NC_000015.10:g.58890298G>A, NC_000015.9:g.59182497G>A, NM_024755.4:c.2062C>T, NM_024755.3:c.2062C>T, NM_024755.2:c.2062C>T, XM_006720686.4:c.1816C>T, XM_006720686.3:c.2221C>T, XM_006720686.2:c.1816C>T, XM_006720686.1:c.2221C>T, XM_011522029.3:c.1924C>T, XM_011522029.2:c.1924C>T, XM_011522029.1:c.1924C>T, NM_001013843.3:c.2008C>T, NM_001013843.2:c.2008C>T, NM_001013843.1:c.2008C>T, XM_011522031.3:c.1378C>T, XM_011522031.2:c.1378C>T, XM_011522031.1:c.1378C>T, XM_011522030.3:c.2083C>T, XM_011522030.2:c.2488C>T, XM_011522030.1:c.2488C>T, XM_011522022.2:c.2083C>T, XM_011522022.1:c.2488C>T, XM_017022579.2:c.1903C>T, XM_017022579.1:c.1903C>T, XM_011522023.2:c.2029C>T, XM_011522023.1:c.2434C>T, XM_011522024.2:c.1933C>T, XM_011522024.1:c.2338C>T, XM_017022576.2:c.1858C>T, XM_017022576.1:c.1858C>T, XM_011522027.2:c.1837C>T, XM_011522027.1:c.2242C>T, XM_011522028.2:c.1783C>T, XM_011522028.1:c.2188C>T, XM_017022578.2:c.1762C>T, XM_017022578.1:c.2167C>T, NR_135043.2:n.1619C>T, NR_135043.1:n.1616C>T, NR_135042.2:n.1509C>T, NR_135042.1:n.1506C>T, NM_017968.2:c.*861C>T, XM_047433052.1:c.1378C>T, XM_047433048.1:c.1849C>T, XM_047433051.1:c.1378C>T, XM_047433043.1:c.1912C>T, XM_047433044.1:c.1879C>T, XM_047433049.1:c.1657C>T, XM_047433045.1:c.1666C>T, XM_047433046.1:c.1612C>T, NM_017968.1:c.394C>T, NP_079031.2:p.Arg688Cys, XP_006720749.4:p.Arg606Cys, XP_011520331.1:p.Arg642Cys, NP_001013865.1:p.Arg670Cys, XP_011520333.1:p.Arg460Cys, XP_011520332.2:p.Arg695Cys, XP_011520324.2:p.Arg695Cys, XP_016878068.1:p.Arg635Cys, XP_011520325.2:p.Arg677Cys, XP_011520326.2:p.Arg645Cys, XP_016878065.1:p.Arg620Cys, XP_011520329.2:p.Arg613Cys, XP_011520330.2:p.Arg595Cys, XP_016878067.2:p.Arg588Cys, XP_047289008.1:p.Arg460Cys, XP_047289004.1:p.Arg617Cys, XP_047289007.1:p.Arg460Cys, XP_047288999.1:p.Arg638Cys, XP_047289000.1:p.Arg627Cys, XP_047289005.1:p.Arg553Cys, XP_047289001.1:p.Arg556Cys, XP_047289002.1:p.Arg538Cys

          5.

          rs1488911012 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CTT>- [Show Flanks]
            Chromosome:
            15:58893965 (GRCh38)
            15:59186164 (GRCh37)
            Canonical SPDI:
            NC_000015.10:58893960:TCTTCTT:TCTT
            Gene:
            SLTM (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,inframe_deletion
            Validated:
            by frequency,by alfa
            MAF:
            TCTT=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            HGVS:
            NC_000015.10:g.58893962CTT[1], NC_000015.9:g.59186161CTT[1], NM_024755.4:c.1503AGA[1], NM_024755.3:c.1503AGA[1], NM_024755.2:c.1503AGA[1], XM_006720686.4:c.1257AGA[1], XM_006720686.3:c.1662AGA[1], XM_006720686.2:c.1257AGA[1], XM_006720686.1:c.1662AGA[1], XM_011522029.3:c.1365AGA[1], XM_011522029.2:c.1365AGA[1], XM_011522029.1:c.1365AGA[1], NM_001013843.3:c.1449AGA[1], NM_001013843.2:c.1449AGA[1], NM_001013843.1:c.1449AGA[1], XM_011522031.3:c.819AGA[1], XM_011522031.2:c.819AGA[1], XM_011522031.1:c.819AGA[1], XM_011522030.3:c.1524AGA[1], XM_011522030.2:c.1929AGA[1], XM_011522030.1:c.1929AGA[1], XM_011522022.2:c.1524AGA[1], XM_011522022.1:c.1929AGA[1], XM_017022579.2:c.1344AGA[1], XM_017022579.1:c.1344AGA[1], XM_011522023.2:c.1470AGA[1], XM_011522023.1:c.1875AGA[1], XM_011522024.2:c.1374AGA[1], XM_011522024.1:c.1779AGA[1], XM_017022576.2:c.1299AGA[1], XM_017022576.1:c.1299AGA[1], XM_011522027.2:c.1278AGA[1], XM_011522027.1:c.1683AGA[1], XM_011522028.2:c.1224AGA[1], XM_011522028.1:c.1629AGA[1], XM_017022578.2:c.1203AGA[1], XM_017022578.1:c.1608AGA[1], NR_135043.2:n.1060AGA[1], NR_135043.1:n.1057AGA[1], NR_135042.2:n.950AGA[1], NR_135042.1:n.947AGA[1], NM_017968.2:c.*302AGA[1], XM_047433052.1:c.819AGA[1], XM_047433048.1:c.1290AGA[1], XM_047433051.1:c.819AGA[1], XM_047433043.1:c.1353AGA[1], XM_047433044.1:c.1320AGA[1], XM_047433049.1:c.1098AGA[1], XM_047433045.1:c.1107AGA[1], XM_047433046.1:c.1053AGA[1], NM_017968.1:c.-166AGA[1], XM_047433050.1:c.1524AGA[1], NP_079031.2:p.Glu503del, XP_006720749.4:p.Glu421del, XP_011520331.1:p.Glu457del, NP_001013865.1:p.Glu485del, XP_011520333.1:p.Glu275del, XP_011520332.2:p.Glu510del, XP_011520324.2:p.Glu510del, XP_016878068.1:p.Glu450del, XP_011520325.2:p.Glu492del, XP_011520326.2:p.Glu460del, XP_016878065.1:p.Glu435del, XP_011520329.2:p.Glu428del, XP_011520330.2:p.Glu410del, XP_016878067.2:p.Glu403del, XP_047289008.1:p.Glu275del, XP_047289004.1:p.Glu432del, XP_047289007.1:p.Glu275del, XP_047288999.1:p.Glu453del, XP_047289000.1:p.Glu442del, XP_047289005.1:p.Glu368del, XP_047289001.1:p.Glu371del, XP_047289002.1:p.Glu353del, XP_047289006.1:p.Glu510del

            6.

            rs1487521133 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              15:58887439 (GRCh38)
              15:59179638 (GRCh37)
              Canonical SPDI:
              NC_000015.10:58887438:G:A
              Gene:
              SLTM (Varview)
              Functional Consequence:
              missense_variant,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
              Validated:
              by frequency
              MAF:
              A=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000015.10:g.58887439G>A, NC_000015.9:g.59179638G>A, NM_024755.4:c.2477C>T, NM_024755.3:c.2477C>T, NM_024755.2:c.2477C>T, XM_006720686.4:c.2231C>T, XM_006720686.3:c.2636C>T, XM_006720686.2:c.2231C>T, XM_006720686.1:c.2636C>T, XM_011522029.3:c.2339C>T, XM_011522029.2:c.2339C>T, XM_011522029.1:c.2339C>T, NM_001013843.3:c.2423C>T, NM_001013843.2:c.2423C>T, NM_001013843.1:c.2423C>T, XM_011522031.3:c.1793C>T, XM_011522031.2:c.1793C>T, XM_011522031.1:c.1793C>T, XM_011522030.3:c.*163C>T, XM_011522022.2:c.2498C>T, XM_011522022.1:c.2903C>T, XM_017022579.2:c.2318C>T, XM_017022579.1:c.2318C>T, XM_011522023.2:c.2444C>T, XM_011522023.1:c.2849C>T, XM_011522024.2:c.2348C>T, XM_011522024.1:c.2753C>T, XM_017022576.2:c.2273C>T, XM_017022576.1:c.2273C>T, XM_011522027.2:c.2252C>T, XM_011522027.1:c.2657C>T, XM_011522028.2:c.2198C>T, XM_011522028.1:c.2603C>T, XM_017022578.2:c.2177C>T, XM_017022578.1:c.2582C>T, NR_135043.2:n.2034C>T, NR_135043.1:n.2031C>T, NR_135042.2:n.1924C>T, NR_135042.1:n.1921C>T, NM_017968.2:c.*1276C>T, XM_047433052.1:c.1793C>T, XM_047433048.1:c.2264C>T, XM_047433051.1:c.1793C>T, XM_047433043.1:c.2327C>T, XM_047433044.1:c.2294C>T, XM_047433049.1:c.2072C>T, XM_047433045.1:c.2081C>T, XM_047433046.1:c.2027C>T, NM_017968.1:c.809C>T, NP_079031.2:p.Ser826Phe, XP_006720749.4:p.Ser744Phe, XP_011520331.1:p.Ser780Phe, NP_001013865.1:p.Ser808Phe, XP_011520333.1:p.Ser598Phe, XP_011520324.2:p.Ser833Phe, XP_016878068.1:p.Ser773Phe, XP_011520325.2:p.Ser815Phe, XP_011520326.2:p.Ser783Phe, XP_016878065.1:p.Ser758Phe, XP_011520329.2:p.Ser751Phe, XP_011520330.2:p.Ser733Phe, XP_016878067.2:p.Ser726Phe, XP_047289008.1:p.Ser598Phe, XP_047289004.1:p.Ser755Phe, XP_047289007.1:p.Ser598Phe, XP_047288999.1:p.Ser776Phe, XP_047289000.1:p.Ser765Phe, XP_047289005.1:p.Ser691Phe, XP_047289001.1:p.Ser694Phe, XP_047289002.1:p.Ser676Phe

              7.

              rs1486422061 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C,G [Show Flanks]
                Chromosome:
                15:58894481 (GRCh38)
                15:59186680 (GRCh37)
                Canonical SPDI:
                NC_000015.10:58894480:T:C,NC_000015.10:58894480:T:G
                Gene:
                SLTM (Varview)
                Functional Consequence:
                synonymous_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
                HGVS:
                NC_000015.10:g.58894481T>C, NC_000015.10:g.58894481T>G, NC_000015.9:g.59186680T>C, NC_000015.9:g.59186680T>G, NM_024755.4:c.1329A>G, NM_024755.4:c.1329A>C, NM_024755.3:c.1329A>G, NM_024755.3:c.1329A>C, NM_024755.2:c.1329A>G, NM_024755.2:c.1329A>C, XM_006720686.4:c.1083A>G, XM_006720686.4:c.1083A>C, XM_006720686.3:c.1488A>G, XM_006720686.3:c.1488A>C, XM_006720686.2:c.1083A>G, XM_006720686.2:c.1083A>C, XM_006720686.1:c.1488A>G, XM_006720686.1:c.1488A>C, XM_011522029.3:c.1191A>G, XM_011522029.3:c.1191A>C, XM_011522029.2:c.1191A>G, XM_011522029.2:c.1191A>C, XM_011522029.1:c.1191A>G, XM_011522029.1:c.1191A>C, NM_001013843.3:c.1275A>G, NM_001013843.3:c.1275A>C, NM_001013843.2:c.1275A>G, NM_001013843.2:c.1275A>C, NM_001013843.1:c.1275A>G, NM_001013843.1:c.1275A>C, XM_011522031.3:c.645A>G, XM_011522031.3:c.645A>C, XM_011522031.2:c.645A>G, XM_011522031.2:c.645A>C, XM_011522031.1:c.645A>G, XM_011522031.1:c.645A>C, XM_011522030.3:c.1350A>G, XM_011522030.3:c.1350A>C, XM_011522030.2:c.1755A>G, XM_011522030.2:c.1755A>C, XM_011522030.1:c.1755A>G, XM_011522030.1:c.1755A>C, XM_011522022.2:c.1350A>G, XM_011522022.2:c.1350A>C, XM_011522022.1:c.1755A>G, XM_011522022.1:c.1755A>C, XM_017022579.2:c.1170A>G, XM_017022579.2:c.1170A>C, XM_017022579.1:c.1170A>G, XM_017022579.1:c.1170A>C, XM_011522023.2:c.1296A>G, XM_011522023.2:c.1296A>C, XM_011522023.1:c.1701A>G, XM_011522023.1:c.1701A>C, XM_011522027.2:c.1104A>G, XM_011522027.2:c.1104A>C, XM_011522027.1:c.1509A>G, XM_011522027.1:c.1509A>C, XM_011522028.2:c.1050A>G, XM_011522028.2:c.1050A>C, XM_011522028.1:c.1455A>G, XM_011522028.1:c.1455A>C, XM_017022578.2:c.1029A>G, XM_017022578.2:c.1029A>C, XM_017022578.1:c.1434A>G, XM_017022578.1:c.1434A>C, NR_135043.2:n.886A>G, NR_135043.2:n.886A>C, NR_135043.1:n.883A>G, NR_135043.1:n.883A>C, NR_135042.2:n.776A>G, NR_135042.2:n.776A>C, NR_135042.1:n.773A>G, NR_135042.1:n.773A>C, NM_017968.2:c.*128A>G, NM_017968.2:c.*128A>C, XM_047433052.1:c.645A>G, XM_047433052.1:c.645A>C, XM_047433048.1:c.1116A>G, XM_047433048.1:c.1116A>C, XM_047433051.1:c.645A>G, XM_047433051.1:c.645A>C, XM_047433049.1:c.924A>G, XM_047433049.1:c.924A>C, XM_047433050.1:c.1350A>G, XM_047433050.1:c.1350A>C

                8.

                rs1486351191 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  15:58899831 (GRCh38)
                  15:59192030 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:58899830:A:G
                  Gene:
                  SLTM (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,synonymous_variant
                  HGVS:
                  NC_000015.10:g.58899831A>G, NC_000015.9:g.59192030A>G, NM_024755.4:c.696T>C, NM_024755.3:c.696T>C, NM_024755.2:c.696T>C, XM_006720686.4:c.450T>C, XM_006720686.3:c.855T>C, XM_006720686.2:c.450T>C, XM_006720686.1:c.855T>C, XM_011522029.3:c.558T>C, XM_011522029.2:c.558T>C, XM_011522029.1:c.558T>C, NM_001013843.3:c.642T>C, NM_001013843.2:c.642T>C, NM_001013843.1:c.642T>C, XM_011522031.3:c.12T>C, XM_011522031.2:c.12T>C, XM_011522031.1:c.12T>C, XM_011522030.3:c.717T>C, XM_011522030.2:c.1122T>C, XM_011522030.1:c.1122T>C, XM_011522022.2:c.717T>C, XM_011522022.1:c.1122T>C, XM_017022579.2:c.537T>C, XM_017022579.1:c.537T>C, XM_011522023.2:c.663T>C, XM_011522023.1:c.1068T>C, XM_011522024.2:c.717T>C, XM_011522024.1:c.1122T>C, XM_017022576.2:c.642T>C, XM_017022576.1:c.642T>C, XM_011522027.2:c.471T>C, XM_011522027.1:c.876T>C, XM_011522028.2:c.417T>C, XM_011522028.1:c.822T>C, XM_017022578.2:c.396T>C, XM_017022578.1:c.801T>C, XM_047433052.1:c.12T>C, XM_047433048.1:c.483T>C, XM_047433051.1:c.12T>C, XM_047433043.1:c.696T>C, XM_047433044.1:c.663T>C, XM_047433049.1:c.291T>C, XM_047433045.1:c.450T>C, XM_047433046.1:c.396T>C, XM_047433050.1:c.717T>C

                  9.

                  rs1482610240 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    15:58899477 (GRCh38)
                    15:59191676 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:58899476:T:C
                    Gene:
                    SLTM (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000015.10:g.58899477T>C, NC_000015.9:g.59191676T>C, NM_024755.4:c.1050A>G, NM_024755.3:c.1050A>G, NM_024755.2:c.1050A>G, XM_006720686.4:c.804A>G, XM_006720686.3:c.1209A>G, XM_006720686.2:c.804A>G, XM_006720686.1:c.1209A>G, XM_011522029.3:c.912A>G, XM_011522029.2:c.912A>G, XM_011522029.1:c.912A>G, NM_001013843.3:c.996A>G, NM_001013843.2:c.996A>G, NM_001013843.1:c.996A>G, XM_011522031.3:c.366A>G, XM_011522031.2:c.366A>G, XM_011522031.1:c.366A>G, XM_011522030.3:c.1071A>G, XM_011522030.2:c.1476A>G, XM_011522030.1:c.1476A>G, XM_011522022.2:c.1071A>G, XM_011522022.1:c.1476A>G, XM_017022579.2:c.891A>G, XM_017022579.1:c.891A>G, XM_011522023.2:c.1017A>G, XM_011522023.1:c.1422A>G, XM_011522024.2:c.1071A>G, XM_011522024.1:c.1476A>G, XM_017022576.2:c.996A>G, XM_017022576.1:c.996A>G, XM_011522027.2:c.825A>G, XM_011522027.1:c.1230A>G, XM_011522028.2:c.771A>G, XM_011522028.1:c.1176A>G, XM_017022578.2:c.750A>G, XM_017022578.1:c.1155A>G, XM_047433052.1:c.366A>G, XM_047433048.1:c.837A>G, XM_047433051.1:c.366A>G, XM_047433043.1:c.1050A>G, XM_047433044.1:c.1017A>G, XM_047433049.1:c.645A>G, XM_047433045.1:c.804A>G, XM_047433046.1:c.750A>G, XM_047433050.1:c.1071A>G

                    10.

                    rs1479525790 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      15:58932402 (GRCh38)
                      15:59224601 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:58932401:T:C
                      Gene:
                      SLTM (Varview)
                      Functional Consequence:
                      intron_variant,synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000014/2 (GnomAD)
                      C=0.000015/4 (TOPMED)
                      HGVS:
                      NC_000015.10:g.58932402T>C, NC_000015.9:g.59224601T>C, NM_024755.4:c.204A>G, NM_024755.3:c.204A>G, NM_024755.2:c.204A>G, XM_006720686.4:c.204A>G, XM_006720686.3:c.609A>G, XM_006720686.2:c.204A>G, XM_006720686.1:c.609A>G, XM_011522029.3:c.45A>G, XM_011522029.2:c.45A>G, XM_011522029.1:c.45A>G, NM_001013843.3:c.204A>G, NM_001013843.2:c.204A>G, NM_001013843.1:c.204A>G, XM_011522030.3:c.204A>G, XM_011522030.2:c.609A>G, XM_011522030.1:c.609A>G, XM_011522022.2:c.204A>G, XM_011522022.1:c.609A>G, XM_017022579.2:c.45A>G, XM_017022579.1:c.45A>G, XM_011522023.2:c.204A>G, XM_011522023.1:c.609A>G, XM_011522024.2:c.204A>G, XM_011522024.1:c.609A>G, XM_017022576.2:c.204A>G, XM_017022576.1:c.204A>G, XM_011522027.2:c.204A>G, XM_011522027.1:c.609A>G, XM_011522028.2:c.204A>G, XM_011522028.1:c.609A>G, XM_017022578.2:c.204A>G, XM_017022578.1:c.609A>G, NR_135042.2:n.318A>G, NR_135042.1:n.315A>G, NM_017968.2:c.204A>G, XM_047433048.1:c.45A>G, XM_047433043.1:c.204A>G, XM_047433044.1:c.204A>G, XM_047433049.1:c.45A>G, XM_047433045.1:c.204A>G, XM_047433046.1:c.204A>G, XM_047433050.1:c.204A>G

                      11.

                      rs1479337697 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        15:58899878 (GRCh38)
                        15:59192077 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:58899877:T:C
                        Gene:
                        SLTM (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,intron_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000015.10:g.58899878T>C, NC_000015.9:g.59192077T>C, NM_024755.4:c.649A>G, NM_024755.3:c.649A>G, NM_024755.2:c.649A>G, XM_006720686.4:c.403A>G, XM_006720686.3:c.808A>G, XM_006720686.2:c.403A>G, XM_006720686.1:c.808A>G, XM_011522029.3:c.511A>G, XM_011522029.2:c.511A>G, XM_011522029.1:c.511A>G, NM_001013843.3:c.595A>G, NM_001013843.2:c.595A>G, NM_001013843.1:c.595A>G, XM_011522031.3:c.-36A>G, XM_011522031.2:c.-36A>G, XM_011522031.1:c.-36A>G, XM_011522030.3:c.670A>G, XM_011522030.2:c.1075A>G, XM_011522030.1:c.1075A>G, XM_011522022.2:c.670A>G, XM_011522022.1:c.1075A>G, XM_017022579.2:c.490A>G, XM_017022579.1:c.490A>G, XM_011522023.2:c.616A>G, XM_011522023.1:c.1021A>G, XM_011522024.2:c.670A>G, XM_011522024.1:c.1075A>G, XM_017022576.2:c.595A>G, XM_017022576.1:c.595A>G, XM_011522027.2:c.424A>G, XM_011522027.1:c.829A>G, XM_011522028.2:c.370A>G, XM_011522028.1:c.775A>G, XM_017022578.2:c.349A>G, XM_017022578.1:c.754A>G, XM_047433052.1:c.-36A>G, XM_047433048.1:c.436A>G, XM_047433051.1:c.-36A>G, XM_047433043.1:c.649A>G, XM_047433044.1:c.616A>G, XM_047433049.1:c.244A>G, XM_047433045.1:c.403A>G, XM_047433046.1:c.349A>G, XM_047433050.1:c.670A>G, NP_079031.2:p.Ser217Gly, XP_006720749.4:p.Ser135Gly, XP_011520331.1:p.Ser171Gly, NP_001013865.1:p.Ser199Gly, XP_011520332.2:p.Ser224Gly, XP_011520324.2:p.Ser224Gly, XP_016878068.1:p.Ser164Gly, XP_011520325.2:p.Ser206Gly, XP_011520326.2:p.Ser224Gly, XP_016878065.1:p.Ser199Gly, XP_011520329.2:p.Ser142Gly, XP_011520330.2:p.Ser124Gly, XP_016878067.2:p.Ser117Gly, XP_047289004.1:p.Ser146Gly, XP_047288999.1:p.Ser217Gly, XP_047289000.1:p.Ser206Gly, XP_047289005.1:p.Ser82Gly, XP_047289001.1:p.Ser135Gly, XP_047289002.1:p.Ser117Gly, XP_047289006.1:p.Ser224Gly

                        12.

                        rs1478884151 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          15:58893975 (GRCh38)
                          15:59186174 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:58893974:A:C
                          Gene:
                          SLTM (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000015.10:g.58893975A>C, NC_000015.9:g.59186174A>C, NM_024755.4:c.1494T>G, NM_024755.3:c.1494T>G, NM_024755.2:c.1494T>G, XM_006720686.4:c.1248T>G, XM_006720686.3:c.1653T>G, XM_006720686.2:c.1248T>G, XM_006720686.1:c.1653T>G, XM_011522029.3:c.1356T>G, XM_011522029.2:c.1356T>G, XM_011522029.1:c.1356T>G, NM_001013843.3:c.1440T>G, NM_001013843.2:c.1440T>G, NM_001013843.1:c.1440T>G, XM_011522031.3:c.810T>G, XM_011522031.2:c.810T>G, XM_011522031.1:c.810T>G, XM_011522030.3:c.1515T>G, XM_011522030.2:c.1920T>G, XM_011522030.1:c.1920T>G, XM_011522022.2:c.1515T>G, XM_011522022.1:c.1920T>G, XM_017022579.2:c.1335T>G, XM_017022579.1:c.1335T>G, XM_011522023.2:c.1461T>G, XM_011522023.1:c.1866T>G, XM_011522024.2:c.1365T>G, XM_011522024.1:c.1770T>G, XM_017022576.2:c.1290T>G, XM_017022576.1:c.1290T>G, XM_011522027.2:c.1269T>G, XM_011522027.1:c.1674T>G, XM_011522028.2:c.1215T>G, XM_011522028.1:c.1620T>G, XM_017022578.2:c.1194T>G, XM_017022578.1:c.1599T>G, NR_135043.2:n.1051T>G, NR_135043.1:n.1048T>G, NR_135042.2:n.941T>G, NR_135042.1:n.938T>G, NM_017968.2:c.*293T>G, XM_047433052.1:c.810T>G, XM_047433048.1:c.1281T>G, XM_047433051.1:c.810T>G, XM_047433043.1:c.1344T>G, XM_047433044.1:c.1311T>G, XM_047433049.1:c.1089T>G, XM_047433045.1:c.1098T>G, XM_047433046.1:c.1044T>G, NM_017968.1:c.-175T>G, XM_047433050.1:c.1515T>G

                          13.

                          rs1477743675 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            15:58887377 (GRCh38)
                            15:59179576 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:58887376:G:A,NC_000015.10:58887376:G:C
                            Gene:
                            SLTM (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,stop_gained,coding_sequence_variant,downstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000015.10:g.58887377G>A, NC_000015.10:g.58887377G>C, NC_000015.9:g.59179576G>A, NC_000015.9:g.59179576G>C, NM_024755.4:c.2539C>T, NM_024755.4:c.2539C>G, NM_024755.3:c.2539C>T, NM_024755.3:c.2539C>G, NM_024755.2:c.2539C>T, NM_024755.2:c.2539C>G, XM_006720686.4:c.2293C>T, XM_006720686.4:c.2293C>G, XM_006720686.3:c.2698C>T, XM_006720686.3:c.2698C>G, XM_006720686.2:c.2293C>T, XM_006720686.2:c.2293C>G, XM_006720686.1:c.2698C>T, XM_006720686.1:c.2698C>G, XM_011522029.3:c.2401C>T, XM_011522029.3:c.2401C>G, XM_011522029.2:c.2401C>T, XM_011522029.2:c.2401C>G, XM_011522029.1:c.2401C>T, XM_011522029.1:c.2401C>G, NM_001013843.3:c.2485C>T, NM_001013843.3:c.2485C>G, NM_001013843.2:c.2485C>T, NM_001013843.2:c.2485C>G, NM_001013843.1:c.2485C>T, NM_001013843.1:c.2485C>G, XM_011522031.3:c.1855C>T, XM_011522031.3:c.1855C>G, XM_011522031.2:c.1855C>T, XM_011522031.2:c.1855C>G, XM_011522031.1:c.1855C>T, XM_011522031.1:c.1855C>G, XM_011522022.2:c.2560C>T, XM_011522022.2:c.2560C>G, XM_011522022.1:c.2965C>T, XM_011522022.1:c.2965C>G, XM_017022579.2:c.2380C>T, XM_017022579.2:c.2380C>G, XM_017022579.1:c.2380C>T, XM_017022579.1:c.2380C>G, XM_011522023.2:c.2506C>T, XM_011522023.2:c.2506C>G, XM_011522023.1:c.2911C>T, XM_011522023.1:c.2911C>G, XM_011522024.2:c.2410C>T, XM_011522024.2:c.2410C>G, XM_011522024.1:c.2815C>T, XM_011522024.1:c.2815C>G, XM_017022576.2:c.2335C>T, XM_017022576.2:c.2335C>G, XM_017022576.1:c.2335C>T, XM_017022576.1:c.2335C>G, XM_011522027.2:c.2314C>T, XM_011522027.2:c.2314C>G, XM_011522027.1:c.2719C>T, XM_011522027.1:c.2719C>G, XM_011522028.2:c.2260C>T, XM_011522028.2:c.2260C>G, XM_011522028.1:c.2665C>T, XM_011522028.1:c.2665C>G, XM_017022578.2:c.2239C>T, XM_017022578.2:c.2239C>G, XM_017022578.1:c.2644C>T, XM_017022578.1:c.2644C>G, NR_135043.2:n.2096C>T, NR_135043.2:n.2096C>G, NR_135043.1:n.2093C>T, NR_135043.1:n.2093C>G, NR_135042.2:n.1986C>T, NR_135042.2:n.1986C>G, NR_135042.1:n.1983C>T, NR_135042.1:n.1983C>G, NM_017968.2:c.*1338C>T, NM_017968.2:c.*1338C>G, XM_047433052.1:c.1855C>T, XM_047433052.1:c.1855C>G, XM_047433048.1:c.2326C>T, XM_047433048.1:c.2326C>G, XM_047433051.1:c.1855C>T, XM_047433051.1:c.1855C>G, XM_047433043.1:c.2389C>T, XM_047433043.1:c.2389C>G, XM_047433044.1:c.2356C>T, XM_047433044.1:c.2356C>G, XM_047433049.1:c.2134C>T, XM_047433049.1:c.2134C>G, XM_047433045.1:c.2143C>T, XM_047433045.1:c.2143C>G, XM_047433046.1:c.2089C>T, XM_047433046.1:c.2089C>G, NM_017968.1:c.871C>T, NM_017968.1:c.871C>G, NP_079031.2:p.Arg847Ter, NP_079031.2:p.Arg847Gly, XP_006720749.4:p.Arg765Ter, XP_006720749.4:p.Arg765Gly, XP_011520331.1:p.Arg801Ter, XP_011520331.1:p.Arg801Gly, NP_001013865.1:p.Arg829Ter, NP_001013865.1:p.Arg829Gly, XP_011520333.1:p.Arg619Ter, XP_011520333.1:p.Arg619Gly, XP_011520324.2:p.Arg854Ter, XP_011520324.2:p.Arg854Gly, XP_016878068.1:p.Arg794Ter, XP_016878068.1:p.Arg794Gly, XP_011520325.2:p.Arg836Ter, XP_011520325.2:p.Arg836Gly, XP_011520326.2:p.Arg804Ter, XP_011520326.2:p.Arg804Gly, XP_016878065.1:p.Arg779Ter, XP_016878065.1:p.Arg779Gly, XP_011520329.2:p.Arg772Ter, XP_011520329.2:p.Arg772Gly, XP_011520330.2:p.Arg754Ter, XP_011520330.2:p.Arg754Gly, XP_016878067.2:p.Arg747Ter, XP_016878067.2:p.Arg747Gly, XP_047289008.1:p.Arg619Ter, XP_047289008.1:p.Arg619Gly, XP_047289004.1:p.Arg776Ter, XP_047289004.1:p.Arg776Gly, XP_047289007.1:p.Arg619Ter, XP_047289007.1:p.Arg619Gly, XP_047288999.1:p.Arg797Ter, XP_047288999.1:p.Arg797Gly, XP_047289000.1:p.Arg786Ter, XP_047289000.1:p.Arg786Gly, XP_047289005.1:p.Arg712Ter, XP_047289005.1:p.Arg712Gly, XP_047289001.1:p.Arg715Ter, XP_047289001.1:p.Arg715Gly, XP_047289002.1:p.Arg697Ter, XP_047289002.1:p.Arg697Gly

                            14.

                            rs1477628933 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              15:58890441 (GRCh38)
                              15:59182640 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:58890440:C:G
                              Gene:
                              SLTM (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000015.10:g.58890441C>G, NC_000015.9:g.59182640C>G, NM_024755.4:c.1919G>C, NM_024755.3:c.1919G>C, NM_024755.2:c.1919G>C, XM_006720686.4:c.1673G>C, XM_006720686.3:c.2078G>C, XM_006720686.2:c.1673G>C, XM_006720686.1:c.2078G>C, XM_011522029.3:c.1781G>C, XM_011522029.2:c.1781G>C, XM_011522029.1:c.1781G>C, NM_001013843.3:c.1865G>C, NM_001013843.2:c.1865G>C, NM_001013843.1:c.1865G>C, XM_011522031.3:c.1235G>C, XM_011522031.2:c.1235G>C, XM_011522031.1:c.1235G>C, XM_011522030.3:c.1940G>C, XM_011522030.2:c.2345G>C, XM_011522030.1:c.2345G>C, XM_011522022.2:c.1940G>C, XM_011522022.1:c.2345G>C, XM_017022579.2:c.1760G>C, XM_017022579.1:c.1760G>C, XM_011522023.2:c.1886G>C, XM_011522023.1:c.2291G>C, XM_011522024.2:c.1790G>C, XM_011522024.1:c.2195G>C, XM_017022576.2:c.1715G>C, XM_017022576.1:c.1715G>C, XM_011522027.2:c.1694G>C, XM_011522027.1:c.2099G>C, XM_011522028.2:c.1640G>C, XM_011522028.1:c.2045G>C, XM_017022578.2:c.1619G>C, XM_017022578.1:c.2024G>C, NR_135043.2:n.1476G>C, NR_135043.1:n.1473G>C, NR_135042.2:n.1366G>C, NR_135042.1:n.1363G>C, NM_017968.2:c.*718G>C, XM_047433052.1:c.1235G>C, XM_047433048.1:c.1706G>C, XM_047433051.1:c.1235G>C, XM_047433043.1:c.1769G>C, XM_047433044.1:c.1736G>C, XM_047433049.1:c.1514G>C, XM_047433045.1:c.1523G>C, XM_047433046.1:c.1469G>C, NM_017968.1:c.251G>C, NP_079031.2:p.Arg640Thr, XP_006720749.4:p.Arg558Thr, XP_011520331.1:p.Arg594Thr, NP_001013865.1:p.Arg622Thr, XP_011520333.1:p.Arg412Thr, XP_011520332.2:p.Arg647Thr, XP_011520324.2:p.Arg647Thr, XP_016878068.1:p.Arg587Thr, XP_011520325.2:p.Arg629Thr, XP_011520326.2:p.Arg597Thr, XP_016878065.1:p.Arg572Thr, XP_011520329.2:p.Arg565Thr, XP_011520330.2:p.Arg547Thr, XP_016878067.2:p.Arg540Thr, XP_047289008.1:p.Arg412Thr, XP_047289004.1:p.Arg569Thr, XP_047289007.1:p.Arg412Thr, XP_047288999.1:p.Arg590Thr, XP_047289000.1:p.Arg579Thr, XP_047289005.1:p.Arg505Thr, XP_047289001.1:p.Arg508Thr, XP_047289002.1:p.Arg490Thr

                              15.

                              rs1477383088 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                15:58886985 (GRCh38)
                                15:59179184 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:58886984:C:A,NC_000015.10:58886984:C:T
                                Gene:
                                SLTM (Varview)
                                Functional Consequence:
                                missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_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_000015.10:g.58886985C>A, NC_000015.10:g.58886985C>T, NC_000015.9:g.59179184C>A, NC_000015.9:g.59179184C>T, NM_024755.4:c.2825G>T, NM_024755.4:c.2825G>A, NM_024755.3:c.2825G>T, NM_024755.3:c.2825G>A, NM_024755.2:c.2825G>T, NM_024755.2:c.2825G>A, XM_006720686.4:c.2579G>T, XM_006720686.4:c.2579G>A, XM_006720686.3:c.2984G>T, XM_006720686.3:c.2984G>A, XM_006720686.2:c.2579G>T, XM_006720686.2:c.2579G>A, XM_006720686.1:c.2984G>T, XM_006720686.1:c.2984G>A, XM_011522029.3:c.2687G>T, XM_011522029.3:c.2687G>A, XM_011522029.2:c.2687G>T, XM_011522029.2:c.2687G>A, XM_011522029.1:c.2687G>T, XM_011522029.1:c.2687G>A, NM_001013843.3:c.2771G>T, NM_001013843.3:c.2771G>A, NM_001013843.2:c.2771G>T, NM_001013843.2:c.2771G>A, NM_001013843.1:c.2771G>T, NM_001013843.1:c.2771G>A, XM_011522031.3:c.2141G>T, XM_011522031.3:c.2141G>A, XM_011522031.2:c.2141G>T, XM_011522031.2:c.2141G>A, XM_011522031.1:c.2141G>T, XM_011522031.1:c.2141G>A, XM_011522022.2:c.2846G>T, XM_011522022.2:c.2846G>A, XM_011522022.1:c.3251G>T, XM_011522022.1:c.3251G>A, XM_017022579.2:c.2666G>T, XM_017022579.2:c.2666G>A, XM_017022579.1:c.2666G>T, XM_017022579.1:c.2666G>A, XM_011522023.2:c.2792G>T, XM_011522023.2:c.2792G>A, XM_011522023.1:c.3197G>T, XM_011522023.1:c.3197G>A, XM_011522024.2:c.2696G>T, XM_011522024.2:c.2696G>A, XM_011522024.1:c.3101G>T, XM_011522024.1:c.3101G>A, XM_017022576.2:c.2621G>T, XM_017022576.2:c.2621G>A, XM_017022576.1:c.2621G>T, XM_017022576.1:c.2621G>A, XM_011522027.2:c.2600G>T, XM_011522027.2:c.2600G>A, XM_011522027.1:c.3005G>T, XM_011522027.1:c.3005G>A, XM_011522028.2:c.2546G>T, XM_011522028.2:c.2546G>A, XM_011522028.1:c.2951G>T, XM_011522028.1:c.2951G>A, XM_017022578.2:c.2525G>T, XM_017022578.2:c.2525G>A, XM_017022578.1:c.2930G>T, XM_017022578.1:c.2930G>A, NR_135043.2:n.2382G>T, NR_135043.2:n.2382G>A, NR_135043.1:n.2379G>T, NR_135043.1:n.2379G>A, NR_135042.2:n.2272G>T, NR_135042.2:n.2272G>A, NR_135042.1:n.2269G>T, NR_135042.1:n.2269G>A, NM_017968.2:c.*1624G>T, NM_017968.2:c.*1624G>A, XM_047433052.1:c.2141G>T, XM_047433052.1:c.2141G>A, XM_047433048.1:c.2612G>T, XM_047433048.1:c.2612G>A, XM_047433051.1:c.2141G>T, XM_047433051.1:c.2141G>A, XM_047433043.1:c.2675G>T, XM_047433043.1:c.2675G>A, XM_047433044.1:c.2642G>T, XM_047433044.1:c.2642G>A, XM_047433049.1:c.2420G>T, XM_047433049.1:c.2420G>A, XM_047433045.1:c.2429G>T, XM_047433045.1:c.2429G>A, XM_047433046.1:c.2375G>T, XM_047433046.1:c.2375G>A, NM_017968.1:c.1157G>T, NM_017968.1:c.1157G>A, NP_079031.2:p.Gly942Val, NP_079031.2:p.Gly942Asp, XP_006720749.4:p.Gly860Val, XP_006720749.4:p.Gly860Asp, XP_011520331.1:p.Gly896Val, XP_011520331.1:p.Gly896Asp, NP_001013865.1:p.Gly924Val, NP_001013865.1:p.Gly924Asp, XP_011520333.1:p.Gly714Val, XP_011520333.1:p.Gly714Asp, XP_011520324.2:p.Gly949Val, XP_011520324.2:p.Gly949Asp, XP_016878068.1:p.Gly889Val, XP_016878068.1:p.Gly889Asp, XP_011520325.2:p.Gly931Val, XP_011520325.2:p.Gly931Asp, XP_011520326.2:p.Gly899Val, XP_011520326.2:p.Gly899Asp, XP_016878065.1:p.Gly874Val, XP_016878065.1:p.Gly874Asp, XP_011520329.2:p.Gly867Val, XP_011520329.2:p.Gly867Asp, XP_011520330.2:p.Gly849Val, XP_011520330.2:p.Gly849Asp, XP_016878067.2:p.Gly842Val, XP_016878067.2:p.Gly842Asp, XP_047289008.1:p.Gly714Val, XP_047289008.1:p.Gly714Asp, XP_047289004.1:p.Gly871Val, XP_047289004.1:p.Gly871Asp, XP_047289007.1:p.Gly714Val, XP_047289007.1:p.Gly714Asp, XP_047288999.1:p.Gly892Val, XP_047288999.1:p.Gly892Asp, XP_047289000.1:p.Gly881Val, XP_047289000.1:p.Gly881Asp, XP_047289005.1:p.Gly807Val, XP_047289005.1:p.Gly807Asp, XP_047289001.1:p.Gly810Val, XP_047289001.1:p.Gly810Asp, XP_047289002.1:p.Gly792Val, XP_047289002.1:p.Gly792Asp

                                16.

                                rs1477270128 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  15:58888482 (GRCh38)
                                  15:59180681 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:58888481:C:T
                                  Gene:
                                  SLTM (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0./0 (GnomAD)
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000015.10:g.58888482C>T, NC_000015.9:g.59180681C>T, NM_024755.4:c.2278G>A, NM_024755.3:c.2278G>A, NM_024755.2:c.2278G>A, XM_006720686.4:c.2032G>A, XM_006720686.3:c.2437G>A, XM_006720686.2:c.2032G>A, XM_006720686.1:c.2437G>A, XM_011522029.3:c.2140G>A, XM_011522029.2:c.2140G>A, XM_011522029.1:c.2140G>A, NM_001013843.3:c.2224G>A, NM_001013843.2:c.2224G>A, NM_001013843.1:c.2224G>A, XM_011522031.3:c.1594G>A, XM_011522031.2:c.1594G>A, XM_011522031.1:c.1594G>A, XM_011522030.3:c.2299G>A, XM_011522030.2:c.2704G>A, XM_011522030.1:c.2704G>A, XM_011522022.2:c.2299G>A, XM_011522022.1:c.2704G>A, XM_017022579.2:c.2119G>A, XM_017022579.1:c.2119G>A, XM_011522023.2:c.2245G>A, XM_011522023.1:c.2650G>A, XM_011522024.2:c.2149G>A, XM_011522024.1:c.2554G>A, XM_017022576.2:c.2074G>A, XM_017022576.1:c.2074G>A, XM_011522027.2:c.2053G>A, XM_011522027.1:c.2458G>A, XM_011522028.2:c.1999G>A, XM_011522028.1:c.2404G>A, XM_017022578.2:c.1978G>A, XM_017022578.1:c.2383G>A, NR_135043.2:n.1835G>A, NR_135043.1:n.1832G>A, NR_135042.2:n.1725G>A, NR_135042.1:n.1722G>A, NM_017968.2:c.*1077G>A, XM_047433052.1:c.1594G>A, XM_047433048.1:c.2065G>A, XM_047433051.1:c.1594G>A, XM_047433043.1:c.2128G>A, XM_047433044.1:c.2095G>A, XM_047433049.1:c.1873G>A, XM_047433045.1:c.1882G>A, XM_047433046.1:c.1828G>A, NM_017968.1:c.610G>A, XM_047433050.1:c.*99G>A, NP_079031.2:p.Asp760Asn, XP_006720749.4:p.Asp678Asn, XP_011520331.1:p.Asp714Asn, NP_001013865.1:p.Asp742Asn, XP_011520333.1:p.Asp532Asn, XP_011520332.2:p.Asp767Asn, XP_011520324.2:p.Asp767Asn, XP_016878068.1:p.Asp707Asn, XP_011520325.2:p.Asp749Asn, XP_011520326.2:p.Asp717Asn, XP_016878065.1:p.Asp692Asn, XP_011520329.2:p.Asp685Asn, XP_011520330.2:p.Asp667Asn, XP_016878067.2:p.Asp660Asn, XP_047289008.1:p.Asp532Asn, XP_047289004.1:p.Asp689Asn, XP_047289007.1:p.Asp532Asn, XP_047288999.1:p.Asp710Asn, XP_047289000.1:p.Asp699Asn, XP_047289005.1:p.Asp625Asn, XP_047289001.1:p.Asp628Asn, XP_047289002.1:p.Asp610Asn

                                  17.

                                  rs1476986202 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    15:58887370 (GRCh38)
                                    15:59179569 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:58887369:T:C
                                    Gene:
                                    SLTM (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    C=0.000021/3 (GnomAD)
                                    C=0.000026/7 (TOPMED)
                                    C=0.000142/2 (TOMMO)
                                    HGVS:
                                    NC_000015.10:g.58887370T>C, NC_000015.9:g.59179569T>C, NM_024755.4:c.2546A>G, NM_024755.3:c.2546A>G, NM_024755.2:c.2546A>G, XM_006720686.4:c.2300A>G, XM_006720686.3:c.2705A>G, XM_006720686.2:c.2300A>G, XM_006720686.1:c.2705A>G, XM_011522029.3:c.2408A>G, XM_011522029.2:c.2408A>G, XM_011522029.1:c.2408A>G, NM_001013843.3:c.2492A>G, NM_001013843.2:c.2492A>G, NM_001013843.1:c.2492A>G, XM_011522031.3:c.1862A>G, XM_011522031.2:c.1862A>G, XM_011522031.1:c.1862A>G, XM_011522022.2:c.2567A>G, XM_011522022.1:c.2972A>G, XM_017022579.2:c.2387A>G, XM_017022579.1:c.2387A>G, XM_011522023.2:c.2513A>G, XM_011522023.1:c.2918A>G, XM_011522024.2:c.2417A>G, XM_011522024.1:c.2822A>G, XM_017022576.2:c.2342A>G, XM_017022576.1:c.2342A>G, XM_011522027.2:c.2321A>G, XM_011522027.1:c.2726A>G, XM_011522028.2:c.2267A>G, XM_011522028.1:c.2672A>G, XM_017022578.2:c.2246A>G, XM_017022578.1:c.2651A>G, NR_135043.2:n.2103A>G, NR_135043.1:n.2100A>G, NR_135042.2:n.1993A>G, NR_135042.1:n.1990A>G, NM_017968.2:c.*1345A>G, XM_047433052.1:c.1862A>G, XM_047433048.1:c.2333A>G, XM_047433051.1:c.1862A>G, XM_047433043.1:c.2396A>G, XM_047433044.1:c.2363A>G, XM_047433049.1:c.2141A>G, XM_047433045.1:c.2150A>G, XM_047433046.1:c.2096A>G, NM_017968.1:c.878A>G, NP_079031.2:p.Glu849Gly, XP_006720749.4:p.Glu767Gly, XP_011520331.1:p.Glu803Gly, NP_001013865.1:p.Glu831Gly, XP_011520333.1:p.Glu621Gly, XP_011520324.2:p.Glu856Gly, XP_016878068.1:p.Glu796Gly, XP_011520325.2:p.Glu838Gly, XP_011520326.2:p.Glu806Gly, XP_016878065.1:p.Glu781Gly, XP_011520329.2:p.Glu774Gly, XP_011520330.2:p.Glu756Gly, XP_016878067.2:p.Glu749Gly, XP_047289008.1:p.Glu621Gly, XP_047289004.1:p.Glu778Gly, XP_047289007.1:p.Glu621Gly, XP_047288999.1:p.Glu799Gly, XP_047289000.1:p.Glu788Gly, XP_047289005.1:p.Glu714Gly, XP_047289001.1:p.Glu717Gly, XP_047289002.1:p.Glu699Gly

                                    18.

                                    rs1475936914 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      15:58899691 (GRCh38)
                                      15:59191890 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:58899690:G:A
                                      Gene:
                                      SLTM (Varview)
                                      Functional Consequence:
                                      intron_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0./0 (KOREAN)
                                      A=0.000004/1 (GnomAD_exomes)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000015.10:g.58899691G>A, NC_000015.9:g.59191890G>A, NM_024755.4:c.836C>T, NM_024755.3:c.836C>T, NM_024755.2:c.836C>T, XM_006720686.4:c.590C>T, XM_006720686.3:c.995C>T, XM_006720686.2:c.590C>T, XM_006720686.1:c.995C>T, XM_011522029.3:c.698C>T, XM_011522029.2:c.698C>T, XM_011522029.1:c.698C>T, NM_001013843.3:c.782C>T, NM_001013843.2:c.782C>T, NM_001013843.1:c.782C>T, XM_011522031.3:c.152C>T, XM_011522031.2:c.152C>T, XM_011522031.1:c.152C>T, XM_011522030.3:c.857C>T, XM_011522030.2:c.1262C>T, XM_011522030.1:c.1262C>T, XM_011522022.2:c.857C>T, XM_011522022.1:c.1262C>T, XM_017022579.2:c.677C>T, XM_017022579.1:c.677C>T, XM_011522023.2:c.803C>T, XM_011522023.1:c.1208C>T, XM_011522024.2:c.857C>T, XM_011522024.1:c.1262C>T, XM_017022576.2:c.782C>T, XM_017022576.1:c.782C>T, XM_011522027.2:c.611C>T, XM_011522027.1:c.1016C>T, XM_011522028.2:c.557C>T, XM_011522028.1:c.962C>T, XM_017022578.2:c.536C>T, XM_017022578.1:c.941C>T, XM_047433052.1:c.152C>T, XM_047433048.1:c.623C>T, XM_047433051.1:c.152C>T, XM_047433043.1:c.836C>T, XM_047433044.1:c.803C>T, XM_047433049.1:c.431C>T, XM_047433045.1:c.590C>T, XM_047433046.1:c.536C>T, XM_047433050.1:c.857C>T, NP_079031.2:p.Pro279Leu, XP_006720749.4:p.Pro197Leu, XP_011520331.1:p.Pro233Leu, NP_001013865.1:p.Pro261Leu, XP_011520333.1:p.Pro51Leu, XP_011520332.2:p.Pro286Leu, XP_011520324.2:p.Pro286Leu, XP_016878068.1:p.Pro226Leu, XP_011520325.2:p.Pro268Leu, XP_011520326.2:p.Pro286Leu, XP_016878065.1:p.Pro261Leu, XP_011520329.2:p.Pro204Leu, XP_011520330.2:p.Pro186Leu, XP_016878067.2:p.Pro179Leu, XP_047289008.1:p.Pro51Leu, XP_047289004.1:p.Pro208Leu, XP_047289007.1:p.Pro51Leu, XP_047288999.1:p.Pro279Leu, XP_047289000.1:p.Pro268Leu, XP_047289005.1:p.Pro144Leu, XP_047289001.1:p.Pro197Leu, XP_047289002.1:p.Pro179Leu, XP_047289006.1:p.Pro286Leu

                                      19.

                                      rs1475609284 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        15:58898820 (GRCh38)
                                        15:59191019 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:58898819:G:A
                                        Gene:
                                        SLTM (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                        HGVS:
                                        NC_000015.10:g.58898820G>A, NC_000015.9:g.59191019G>A, NM_024755.4:c.1091C>T, NM_024755.3:c.1091C>T, NM_024755.2:c.1091C>T, XM_006720686.4:c.845C>T, XM_006720686.3:c.1250C>T, XM_006720686.2:c.845C>T, XM_006720686.1:c.1250C>T, XM_011522029.3:c.953C>T, XM_011522029.2:c.953C>T, XM_011522029.1:c.953C>T, NM_001013843.3:c.1037C>T, NM_001013843.2:c.1037C>T, NM_001013843.1:c.1037C>T, XM_011522031.3:c.407C>T, XM_011522031.2:c.407C>T, XM_011522031.1:c.407C>T, XM_011522030.3:c.1112C>T, XM_011522030.2:c.1517C>T, XM_011522030.1:c.1517C>T, XM_011522022.2:c.1112C>T, XM_011522022.1:c.1517C>T, XM_017022579.2:c.932C>T, XM_017022579.1:c.932C>T, XM_011522023.2:c.1058C>T, XM_011522023.1:c.1463C>T, XM_011522024.2:c.1112C>T, XM_011522024.1:c.1517C>T, XM_017022576.2:c.1037C>T, XM_017022576.1:c.1037C>T, XM_011522027.2:c.866C>T, XM_011522027.1:c.1271C>T, XM_011522028.2:c.812C>T, XM_011522028.1:c.1217C>T, XM_017022578.2:c.791C>T, XM_017022578.1:c.1196C>T, NR_135043.2:n.648C>T, NR_135043.1:n.645C>T, NR_135042.2:n.538C>T, NR_135042.1:n.535C>T, NM_017968.2:c.424C>T, XM_047433052.1:c.407C>T, XM_047433048.1:c.878C>T, XM_047433051.1:c.407C>T, XM_047433043.1:c.1091C>T, XM_047433044.1:c.1058C>T, XM_047433049.1:c.686C>T, XM_047433045.1:c.845C>T, XM_047433046.1:c.791C>T, XM_047433050.1:c.1112C>T, NP_079031.2:p.Ser364Leu, XP_006720749.4:p.Ser282Leu, XP_011520331.1:p.Ser318Leu, NP_001013865.1:p.Ser346Leu, XP_011520333.1:p.Ser136Leu, XP_011520332.2:p.Ser371Leu, XP_011520324.2:p.Ser371Leu, XP_016878068.1:p.Ser311Leu, XP_011520325.2:p.Ser353Leu, XP_011520326.2:p.Ser371Leu, XP_016878065.1:p.Ser346Leu, XP_011520329.2:p.Ser289Leu, XP_011520330.2:p.Ser271Leu, XP_016878067.2:p.Ser264Leu, XP_047289008.1:p.Ser136Leu, XP_047289004.1:p.Ser293Leu, XP_047289007.1:p.Ser136Leu, XP_047288999.1:p.Ser364Leu, XP_047289000.1:p.Ser353Leu, XP_047289005.1:p.Ser229Leu, XP_047289001.1:p.Ser282Leu, XP_047289002.1:p.Ser264Leu, XP_047289006.1:p.Ser371Leu

                                        20.

                                        rs1475557480 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A,C [Show Flanks]
                                          Chromosome:
                                          15:58893861 (GRCh38)
                                          15:59186060 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:58893860:T:A,NC_000015.10:58893860:T:C
                                          Gene:
                                          SLTM (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000015.10:g.58893861T>A, NC_000015.10:g.58893861T>C, NC_000015.9:g.59186060T>A, NC_000015.9:g.59186060T>C, NM_024755.4:c.1608A>T, NM_024755.4:c.1608A>G, NM_024755.3:c.1608A>T, NM_024755.3:c.1608A>G, NM_024755.2:c.1608A>T, NM_024755.2:c.1608A>G, XM_006720686.4:c.1362A>T, XM_006720686.4:c.1362A>G, XM_006720686.3:c.1767A>T, XM_006720686.3:c.1767A>G, XM_006720686.2:c.1362A>T, XM_006720686.2:c.1362A>G, XM_006720686.1:c.1767A>T, XM_006720686.1:c.1767A>G, XM_011522029.3:c.1470A>T, XM_011522029.3:c.1470A>G, XM_011522029.2:c.1470A>T, XM_011522029.2:c.1470A>G, XM_011522029.1:c.1470A>T, XM_011522029.1:c.1470A>G, NM_001013843.3:c.1554A>T, NM_001013843.3:c.1554A>G, NM_001013843.2:c.1554A>T, NM_001013843.2:c.1554A>G, NM_001013843.1:c.1554A>T, NM_001013843.1:c.1554A>G, XM_011522031.3:c.924A>T, XM_011522031.3:c.924A>G, XM_011522031.2:c.924A>T, XM_011522031.2:c.924A>G, XM_011522031.1:c.924A>T, XM_011522031.1:c.924A>G, XM_011522030.3:c.1629A>T, XM_011522030.3:c.1629A>G, XM_011522030.2:c.2034A>T, XM_011522030.2:c.2034A>G, XM_011522030.1:c.2034A>T, XM_011522030.1:c.2034A>G, XM_011522022.2:c.1629A>T, XM_011522022.2:c.1629A>G, XM_011522022.1:c.2034A>T, XM_011522022.1:c.2034A>G, XM_017022579.2:c.1449A>T, XM_017022579.2:c.1449A>G, XM_017022579.1:c.1449A>T, XM_017022579.1:c.1449A>G, XM_011522023.2:c.1575A>T, XM_011522023.2:c.1575A>G, XM_011522023.1:c.1980A>T, XM_011522023.1:c.1980A>G, XM_011522024.2:c.1479A>T, XM_011522024.2:c.1479A>G, XM_011522024.1:c.1884A>T, XM_011522024.1:c.1884A>G, XM_017022576.2:c.1404A>T, XM_017022576.2:c.1404A>G, XM_017022576.1:c.1404A>T, XM_017022576.1:c.1404A>G, XM_011522027.2:c.1383A>T, XM_011522027.2:c.1383A>G, XM_011522027.1:c.1788A>T, XM_011522027.1:c.1788A>G, XM_011522028.2:c.1329A>T, XM_011522028.2:c.1329A>G, XM_011522028.1:c.1734A>T, XM_011522028.1:c.1734A>G, XM_017022578.2:c.1308A>T, XM_017022578.2:c.1308A>G, XM_017022578.1:c.1713A>T, XM_017022578.1:c.1713A>G, NR_135043.2:n.1165A>T, NR_135043.2:n.1165A>G, NR_135043.1:n.1162A>T, NR_135043.1:n.1162A>G, NR_135042.2:n.1055A>T, NR_135042.2:n.1055A>G, NR_135042.1:n.1052A>T, NR_135042.1:n.1052A>G, NM_017968.2:c.*407A>T, NM_017968.2:c.*407A>G, XM_047433052.1:c.924A>T, XM_047433052.1:c.924A>G, XM_047433048.1:c.1395A>T, XM_047433048.1:c.1395A>G, XM_047433051.1:c.924A>T, XM_047433051.1:c.924A>G, XM_047433043.1:c.1458A>T, XM_047433043.1:c.1458A>G, XM_047433044.1:c.1425A>T, XM_047433044.1:c.1425A>G, XM_047433049.1:c.1203A>T, XM_047433049.1:c.1203A>G, XM_047433045.1:c.1212A>T, XM_047433045.1:c.1212A>G, XM_047433046.1:c.1158A>T, XM_047433046.1:c.1158A>G, NM_017968.1:c.-61A>T, NM_017968.1:c.-61A>G, XM_047433050.1:c.1629A>T, XM_047433050.1:c.1629A>G

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