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Items: 1 to 20 of 545

1.

rs1488465965 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    12:23534485 (GRCh38)
    12:23687419 (GRCh37)
    Canonical SPDI:
    NC_000012.12:23534484:C:T
    Gene:
    SOX5 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000012.12:g.23534485C>T, NC_000012.11:g.23687419C>T, NG_029612.2:g.1032962G>A, NM_006940.6:c.2026G>A, NM_006940.5:c.2026G>A, NM_006940.4:c.2026G>A, NM_152989.5:c.1987G>A, NM_152989.4:c.1987G>A, NM_152989.3:c.1987G>A, NM_178010.4:c.868G>A, NM_178010.3:c.868G>A, NM_178010.2:c.868G>A, NM_001261414.3:c.1663G>A, NM_001261414.2:c.1663G>A, NM_001261414.1:c.1663G>A, NM_001261415.3:c.1996G>A, NM_001261415.2:c.1996G>A, NM_001261415.1:c.1996G>A, NM_001330785.2:c.1921G>A, NM_001330785.1:c.1921G>A, XM_011520832.3:c.2221G>A, XM_011520832.2:c.2029G>A, XM_011520832.1:c.2029G>A, XM_011520835.3:c.1990G>A, XM_011520835.2:c.1990G>A, XM_011520835.1:c.1990G>A, XM_011520837.3:c.1990G>A, XM_011520837.2:c.1990G>A, XM_011520837.1:c.1990G>A, XM_011520833.3:c.1999G>A, XM_011520833.2:c.1999G>A, XM_011520833.1:c.1999G>A, XM_024449151.2:c.1990G>A, XM_024449151.1:c.1990G>A, XM_017019894.2:c.1990G>A, XM_017019894.1:c.1990G>A, XM_017019892.2:c.1990G>A, XM_017019892.1:c.1990G>A, XM_024449150.2:c.1990G>A, XM_024449150.1:c.1990G>A, XM_017019891.2:c.1990G>A, XM_017019891.1:c.1990G>A, XM_024449153.2:c.1990G>A, XM_024449153.1:c.1990G>A, XM_024449158.2:c.1990G>A, XM_024449158.1:c.1990G>A, XM_024449159.2:c.1990G>A, XM_024449159.1:c.1990G>A, XM_017019888.2:c.2116G>A, XM_017019888.1:c.2116G>A, XM_017019889.2:c.2113G>A, XM_017019889.1:c.2113G>A, XM_017019890.2:c.1990G>A, XM_017019890.1:c.1990G>A, XM_024449157.2:c.1990G>A, XM_024449157.1:c.1990G>A, XM_024449154.2:c.1990G>A, XM_024449154.1:c.1990G>A, XM_017019893.2:c.1990G>A, XM_017019893.1:c.1990G>A, XM_017019895.2:c.1990G>A, XM_017019895.1:c.1990G>A, XM_047429462.1:c.1990G>A, XM_047429457.1:c.1990G>A, XM_047429461.1:c.1990G>A, XM_047429451.1:c.2218G>A, XM_047429460.1:c.1990G>A, XM_047429458.1:c.1990G>A, XM_047429459.1:c.1990G>A, XM_047429456.1:c.1990G>A, XM_047429452.1:c.2101G>A, XM_047429453.1:c.2098G>A, XM_047429454.1:c.1996G>A, XM_047429455.1:c.1993G>A, XM_047429463.1:c.1987G>A, XM_047429464.1:c.1894G>A, XM_047429465.1:c.1891G>A, NP_008871.3:p.Val676Met, NP_694534.1:p.Val663Met, NP_821078.1:p.Val290Met, NP_001248343.1:p.Val555Met, NP_001248344.1:p.Val666Met, NP_001317714.1:p.Val641Met, XP_011519134.2:p.Val741Met, XP_011519137.1:p.Val664Met, XP_011519139.1:p.Val664Met, XP_011519135.1:p.Val667Met, XP_024304919.1:p.Val664Met, XP_016875383.1:p.Val664Met, XP_016875381.1:p.Val664Met, XP_024304918.1:p.Val664Met, XP_016875380.1:p.Val664Met, XP_024304921.1:p.Val664Met, XP_024304926.1:p.Val664Met, XP_024304927.1:p.Val664Met, XP_016875377.1:p.Val706Met, XP_016875378.1:p.Val705Met, XP_016875379.1:p.Val664Met, XP_024304925.1:p.Val664Met, XP_024304922.1:p.Val664Met, XP_016875382.1:p.Val664Met, XP_016875384.1:p.Val664Met, XP_047285418.1:p.Val664Met, XP_047285413.1:p.Val664Met, XP_047285417.1:p.Val664Met, XP_047285407.1:p.Val740Met, XP_047285416.1:p.Val664Met, XP_047285414.1:p.Val664Met, XP_047285415.1:p.Val664Met, XP_047285412.1:p.Val664Met, XP_047285408.1:p.Val701Met, XP_047285409.1:p.Val700Met, XP_047285410.1:p.Val666Met, XP_047285411.1:p.Val665Met, XP_047285419.1:p.Val663Met, XP_047285420.1:p.Val632Met, XP_047285421.1:p.Val631Met

    2.

    rs1487027295 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      12:23563340 (GRCh38)
      12:23716274 (GRCh37)
      Canonical SPDI:
      NC_000012.12:23563339:T:G
      Gene:
      SOX5 (Varview)
      Functional Consequence:
      intron_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      HGVS:
      NC_000012.12:g.23563340T>G, NC_000012.11:g.23716274T>G, NG_029612.2:g.1004107A>C, NM_006940.6:c.1406A>C, NM_006940.5:c.1406A>C, NM_006940.4:c.1406A>C, NM_152989.5:c.1367A>C, NM_152989.4:c.1367A>C, NM_152989.3:c.1367A>C, NM_178010.4:c.248A>C, NM_178010.3:c.248A>C, NM_178010.2:c.248A>C, NM_001261415.3:c.1376A>C, NM_001261415.2:c.1376A>C, NM_001261415.1:c.1376A>C, NM_001330785.2:c.1301A>C, NM_001330785.1:c.1301A>C, XM_011520832.3:c.1601A>C, XM_011520832.2:c.1409A>C, XM_011520832.1:c.1409A>C, XM_011520835.3:c.1370A>C, XM_011520835.2:c.1370A>C, XM_011520835.1:c.1370A>C, XM_011520837.3:c.1370A>C, XM_011520837.2:c.1370A>C, XM_011520837.1:c.1370A>C, XM_011520833.3:c.1379A>C, XM_011520833.2:c.1379A>C, XM_011520833.1:c.1379A>C, XM_024449151.2:c.1370A>C, XM_024449151.1:c.1370A>C, XM_017019894.2:c.1370A>C, XM_017019894.1:c.1370A>C, XM_017019892.2:c.1370A>C, XM_017019892.1:c.1370A>C, XM_024449150.2:c.1370A>C, XM_024449150.1:c.1370A>C, XM_017019891.2:c.1370A>C, XM_017019891.1:c.1370A>C, XM_024449153.2:c.1370A>C, XM_024449153.1:c.1370A>C, XM_024449158.2:c.1370A>C, XM_024449158.1:c.1370A>C, XM_024449159.2:c.1370A>C, XM_024449159.1:c.1370A>C, XM_017019888.2:c.1496A>C, XM_017019888.1:c.1496A>C, XM_017019889.2:c.1493A>C, XM_017019889.1:c.1493A>C, XM_017019890.2:c.1370A>C, XM_017019890.1:c.1370A>C, XM_024449157.2:c.1370A>C, XM_024449157.1:c.1370A>C, XM_024449154.2:c.1370A>C, XM_024449154.1:c.1370A>C, XM_017019893.2:c.1370A>C, XM_017019893.1:c.1370A>C, XM_017019895.2:c.1370A>C, XM_017019895.1:c.1370A>C, XM_017019902.2:c.*55A>C, XM_017019902.1:c.*55A>C, XM_017019903.2:c.*55A>C, XM_017019903.1:c.*55A>C, XM_047429462.1:c.1370A>C, XM_047429457.1:c.1370A>C, XM_047429461.1:c.1370A>C, XM_047429451.1:c.1598A>C, XM_047429460.1:c.1370A>C, XM_047429458.1:c.1370A>C, XM_047429459.1:c.1370A>C, XM_047429456.1:c.1370A>C, XM_047429452.1:c.1481A>C, XM_047429453.1:c.1478A>C, XM_047429454.1:c.1376A>C, XM_047429455.1:c.1373A>C, XM_047429463.1:c.1367A>C, XM_047429464.1:c.1274A>C, XM_047429465.1:c.1271A>C, NP_008871.3:p.Gln469Pro, NP_694534.1:p.Gln456Pro, NP_821078.1:p.Gln83Pro, NP_001248344.1:p.Gln459Pro, NP_001317714.1:p.Gln434Pro, XP_011519134.2:p.Gln534Pro, XP_011519137.1:p.Gln457Pro, XP_011519139.1:p.Gln457Pro, XP_011519135.1:p.Gln460Pro, XP_024304919.1:p.Gln457Pro, XP_016875383.1:p.Gln457Pro, XP_016875381.1:p.Gln457Pro, XP_024304918.1:p.Gln457Pro, XP_016875380.1:p.Gln457Pro, XP_024304921.1:p.Gln457Pro, XP_024304926.1:p.Gln457Pro, XP_024304927.1:p.Gln457Pro, XP_016875377.1:p.Gln499Pro, XP_016875378.1:p.Gln498Pro, XP_016875379.1:p.Gln457Pro, XP_024304925.1:p.Gln457Pro, XP_024304922.1:p.Gln457Pro, XP_016875382.1:p.Gln457Pro, XP_016875384.1:p.Gln457Pro, XP_047285418.1:p.Gln457Pro, XP_047285413.1:p.Gln457Pro, XP_047285417.1:p.Gln457Pro, XP_047285407.1:p.Gln533Pro, XP_047285416.1:p.Gln457Pro, XP_047285414.1:p.Gln457Pro, XP_047285415.1:p.Gln457Pro, XP_047285412.1:p.Gln457Pro, XP_047285408.1:p.Gln494Pro, XP_047285409.1:p.Gln493Pro, XP_047285410.1:p.Gln459Pro, XP_047285411.1:p.Gln458Pro, XP_047285419.1:p.Gln456Pro, XP_047285420.1:p.Gln425Pro, XP_047285421.1:p.Gln424Pro

      3.

      rs1486894665 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        12:23895974 (GRCh38)
        12:24048908 (GRCh37)
        Canonical SPDI:
        NC_000012.12:23895973:A:G
        Gene:
        SOX5 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by cluster
        MAF:
        G=0.000008/2 (GnomAD_exomes)
        G=0.000035/1 (TOMMO)
        HGVS:
        NC_000012.12:g.23895974A>G, NC_000012.11:g.24048908A>G, NG_029612.2:g.671473T>C, NM_006940.6:c.89T>C, NM_006940.5:c.89T>C, NM_006940.4:c.89T>C, NM_152989.5:c.50T>C, NM_152989.4:c.50T>C, NM_152989.3:c.50T>C, NM_001261414.3:c.50T>C, NM_001261414.2:c.50T>C, NM_001261414.1:c.50T>C, NM_001261415.3:c.59T>C, NM_001261415.2:c.59T>C, NM_001261415.1:c.59T>C, NM_001330785.2:c.89T>C, NM_001330785.1:c.89T>C, XM_011520832.3:c.281T>C, XM_011520832.2:c.89T>C, XM_011520832.1:c.89T>C, XM_011520835.3:c.50T>C, XM_011520835.2:c.50T>C, XM_011520835.1:c.50T>C, XM_011520837.3:c.50T>C, XM_011520837.2:c.50T>C, XM_011520837.1:c.50T>C, XM_011520833.3:c.59T>C, XM_011520833.2:c.59T>C, XM_011520833.1:c.59T>C, XM_024449151.2:c.50T>C, XM_024449151.1:c.50T>C, XM_017019894.2:c.50T>C, XM_017019894.1:c.50T>C, XM_017019892.2:c.50T>C, XM_017019892.1:c.50T>C, XM_024449150.2:c.50T>C, XM_024449150.1:c.50T>C, XM_017019891.2:c.50T>C, XM_017019891.1:c.50T>C, XM_024449153.2:c.50T>C, XM_024449153.1:c.50T>C, XM_024449158.2:c.50T>C, XM_024449158.1:c.50T>C, XM_024449159.2:c.50T>C, XM_024449159.1:c.50T>C, XM_017019888.2:c.281T>C, XM_017019888.1:c.281T>C, XM_017019889.2:c.281T>C, XM_017019889.1:c.281T>C, XM_017019890.2:c.50T>C, XM_017019890.1:c.50T>C, XM_024449157.2:c.50T>C, XM_024449157.1:c.50T>C, XM_024449154.2:c.50T>C, XM_024449154.1:c.50T>C, XM_017019893.2:c.50T>C, XM_017019893.1:c.50T>C, XM_017019895.2:c.50T>C, XM_017019895.1:c.50T>C, XM_017019902.2:c.281T>C, XM_017019902.1:c.89T>C, XM_017019903.2:c.281T>C, XM_017019903.1:c.89T>C, XM_047429462.1:c.50T>C, XM_047429457.1:c.50T>C, XM_047429461.1:c.50T>C, XM_047429451.1:c.281T>C, XM_047429460.1:c.50T>C, XM_047429458.1:c.50T>C, XM_047429459.1:c.50T>C, XM_047429456.1:c.50T>C, XM_047429452.1:c.161T>C, XM_047429453.1:c.161T>C, XM_047429454.1:c.161T>C, XM_047429455.1:c.161T>C, XM_047429463.1:c.50T>C, XM_047429464.1:c.59T>C, XM_047429465.1:c.59T>C, XM_047429466.1:c.281T>C, NP_008871.3:p.Val30Ala, NP_694534.1:p.Val17Ala, NP_001248343.1:p.Val17Ala, NP_001248344.1:p.Val20Ala, NP_001317714.1:p.Val30Ala, XP_011519134.2:p.Val94Ala, XP_011519137.1:p.Val17Ala, XP_011519139.1:p.Val17Ala, XP_011519135.1:p.Val20Ala, XP_024304919.1:p.Val17Ala, XP_016875383.1:p.Val17Ala, XP_016875381.1:p.Val17Ala, XP_024304918.1:p.Val17Ala, XP_016875380.1:p.Val17Ala, XP_024304921.1:p.Val17Ala, XP_024304926.1:p.Val17Ala, XP_024304927.1:p.Val17Ala, XP_016875377.1:p.Val94Ala, XP_016875378.1:p.Val94Ala, XP_016875379.1:p.Val17Ala, XP_024304925.1:p.Val17Ala, XP_024304922.1:p.Val17Ala, XP_016875382.1:p.Val17Ala, XP_016875384.1:p.Val17Ala, XP_016875391.2:p.Val94Ala, XP_016875392.2:p.Val94Ala, XP_047285418.1:p.Val17Ala, XP_047285413.1:p.Val17Ala, XP_047285417.1:p.Val17Ala, XP_047285407.1:p.Val94Ala, XP_047285416.1:p.Val17Ala, XP_047285414.1:p.Val17Ala, XP_047285415.1:p.Val17Ala, XP_047285412.1:p.Val17Ala, XP_047285408.1:p.Val54Ala, XP_047285409.1:p.Val54Ala, XP_047285410.1:p.Val54Ala, XP_047285411.1:p.Val54Ala, XP_047285419.1:p.Val17Ala, XP_047285420.1:p.Val20Ala, XP_047285421.1:p.Val20Ala, XP_047285422.1:p.Val94Ala

        4.

        rs1484363815 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          12:23846058 (GRCh38)
          12:23998992 (GRCh37)
          Canonical SPDI:
          NC_000012.12:23846057:T:G
          Gene:
          SOX5 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000008/2 (TOPMED)
          HGVS:
          NC_000012.12:g.23846058T>G, NC_000012.11:g.23998992T>G, NG_029612.2:g.721389A>C, NM_006940.6:c.406A>C, NM_006940.5:c.406A>C, NM_006940.4:c.406A>C, NM_152989.5:c.367A>C, NM_152989.4:c.367A>C, NM_152989.3:c.367A>C, NM_001261414.3:c.367A>C, NM_001261414.2:c.367A>C, NM_001261414.1:c.367A>C, NM_001261415.3:c.376A>C, NM_001261415.2:c.376A>C, NM_001261415.1:c.376A>C, NM_001330785.2:c.301A>C, NM_001330785.1:c.301A>C, XM_011520832.3:c.598A>C, XM_011520832.2:c.406A>C, XM_011520832.1:c.406A>C, XM_011520835.3:c.367A>C, XM_011520835.2:c.367A>C, XM_011520835.1:c.367A>C, XM_011520837.3:c.367A>C, XM_011520837.2:c.367A>C, XM_011520837.1:c.367A>C, XM_011520833.3:c.376A>C, XM_011520833.2:c.376A>C, XM_011520833.1:c.376A>C, XM_024449151.2:c.367A>C, XM_024449151.1:c.367A>C, XM_017019894.2:c.367A>C, XM_017019894.1:c.367A>C, XM_017019892.2:c.367A>C, XM_017019892.1:c.367A>C, XM_024449150.2:c.367A>C, XM_024449150.1:c.367A>C, XM_017019891.2:c.367A>C, XM_017019891.1:c.367A>C, XM_024449153.2:c.367A>C, XM_024449153.1:c.367A>C, XM_024449158.2:c.367A>C, XM_024449158.1:c.367A>C, XM_024449159.2:c.367A>C, XM_024449159.1:c.367A>C, XM_017019888.2:c.493A>C, XM_017019888.1:c.493A>C, XM_017019889.2:c.493A>C, XM_017019889.1:c.493A>C, XM_017019890.2:c.367A>C, XM_017019890.1:c.367A>C, XM_024449157.2:c.367A>C, XM_024449157.1:c.367A>C, XM_024449154.2:c.367A>C, XM_024449154.1:c.367A>C, XM_017019893.2:c.367A>C, XM_017019893.1:c.367A>C, XM_017019895.2:c.367A>C, XM_017019895.1:c.367A>C, XM_017019902.2:c.598A>C, XM_017019902.1:c.406A>C, XM_017019903.2:c.598A>C, XM_017019903.1:c.406A>C, XM_047429462.1:c.367A>C, XM_047429457.1:c.367A>C, XM_047429461.1:c.367A>C, XM_047429451.1:c.598A>C, XM_047429460.1:c.367A>C, XM_047429458.1:c.367A>C, XM_047429459.1:c.367A>C, XM_047429456.1:c.367A>C, XM_047429452.1:c.478A>C, XM_047429453.1:c.478A>C, XM_047429454.1:c.373A>C, XM_047429455.1:c.373A>C, XM_047429463.1:c.367A>C, XM_047429464.1:c.271A>C, XM_047429465.1:c.271A>C, XM_047429466.1:c.598A>C, NP_008871.3:p.Lys136Gln, NP_694534.1:p.Lys123Gln, NP_001248343.1:p.Lys123Gln, NP_001248344.1:p.Lys126Gln, NP_001317714.1:p.Lys101Gln, XP_011519134.2:p.Lys200Gln, XP_011519137.1:p.Lys123Gln, XP_011519139.1:p.Lys123Gln, XP_011519135.1:p.Lys126Gln, XP_024304919.1:p.Lys123Gln, XP_016875383.1:p.Lys123Gln, XP_016875381.1:p.Lys123Gln, XP_024304918.1:p.Lys123Gln, XP_016875380.1:p.Lys123Gln, XP_024304921.1:p.Lys123Gln, XP_024304926.1:p.Lys123Gln, XP_024304927.1:p.Lys123Gln, XP_016875377.1:p.Lys165Gln, XP_016875378.1:p.Lys165Gln, XP_016875379.1:p.Lys123Gln, XP_024304925.1:p.Lys123Gln, XP_024304922.1:p.Lys123Gln, XP_016875382.1:p.Lys123Gln, XP_016875384.1:p.Lys123Gln, XP_016875391.2:p.Lys200Gln, XP_016875392.2:p.Lys200Gln, XP_047285418.1:p.Lys123Gln, XP_047285413.1:p.Lys123Gln, XP_047285417.1:p.Lys123Gln, XP_047285407.1:p.Lys200Gln, XP_047285416.1:p.Lys123Gln, XP_047285414.1:p.Lys123Gln, XP_047285415.1:p.Lys123Gln, XP_047285412.1:p.Lys123Gln, XP_047285408.1:p.Lys160Gln, XP_047285409.1:p.Lys160Gln, XP_047285410.1:p.Lys125Gln, XP_047285411.1:p.Lys125Gln, XP_047285419.1:p.Lys123Gln, XP_047285420.1:p.Lys91Gln, XP_047285421.1:p.Lys91Gln, XP_047285422.1:p.Lys200Gln

          5.

          rs1483398626 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            12:23846069 (GRCh38)
            12:23999003 (GRCh37)
            Canonical SPDI:
            NC_000012.12:23846068:G:T
            Gene:
            SOX5 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000008/2 (TOPMED)
            HGVS:
            NC_000012.12:g.23846069G>T, NC_000012.11:g.23999003G>T, NG_029612.2:g.721378C>A, NM_006940.6:c.395C>A, NM_006940.5:c.395C>A, NM_006940.4:c.395C>A, NM_152989.5:c.356C>A, NM_152989.4:c.356C>A, NM_152989.3:c.356C>A, NM_001261414.3:c.356C>A, NM_001261414.2:c.356C>A, NM_001261414.1:c.356C>A, NM_001261415.3:c.365C>A, NM_001261415.2:c.365C>A, NM_001261415.1:c.365C>A, NM_001330785.2:c.290C>A, NM_001330785.1:c.290C>A, XM_011520832.3:c.587C>A, XM_011520832.2:c.395C>A, XM_011520832.1:c.395C>A, XM_011520835.3:c.356C>A, XM_011520835.2:c.356C>A, XM_011520835.1:c.356C>A, XM_011520837.3:c.356C>A, XM_011520837.2:c.356C>A, XM_011520837.1:c.356C>A, XM_011520833.3:c.365C>A, XM_011520833.2:c.365C>A, XM_011520833.1:c.365C>A, XM_024449151.2:c.356C>A, XM_024449151.1:c.356C>A, XM_017019894.2:c.356C>A, XM_017019894.1:c.356C>A, XM_017019892.2:c.356C>A, XM_017019892.1:c.356C>A, XM_024449150.2:c.356C>A, XM_024449150.1:c.356C>A, XM_017019891.2:c.356C>A, XM_017019891.1:c.356C>A, XM_024449153.2:c.356C>A, XM_024449153.1:c.356C>A, XM_024449158.2:c.356C>A, XM_024449158.1:c.356C>A, XM_024449159.2:c.356C>A, XM_024449159.1:c.356C>A, XM_017019888.2:c.482C>A, XM_017019888.1:c.482C>A, XM_017019889.2:c.482C>A, XM_017019889.1:c.482C>A, XM_017019890.2:c.356C>A, XM_017019890.1:c.356C>A, XM_024449157.2:c.356C>A, XM_024449157.1:c.356C>A, XM_024449154.2:c.356C>A, XM_024449154.1:c.356C>A, XM_017019893.2:c.356C>A, XM_017019893.1:c.356C>A, XM_017019895.2:c.356C>A, XM_017019895.1:c.356C>A, XM_017019902.2:c.587C>A, XM_017019902.1:c.395C>A, XM_017019903.2:c.587C>A, XM_017019903.1:c.395C>A, XM_047429462.1:c.356C>A, XM_047429457.1:c.356C>A, XM_047429461.1:c.356C>A, XM_047429451.1:c.587C>A, XM_047429460.1:c.356C>A, XM_047429458.1:c.356C>A, XM_047429459.1:c.356C>A, XM_047429456.1:c.356C>A, XM_047429452.1:c.467C>A, XM_047429453.1:c.467C>A, XM_047429454.1:c.362C>A, XM_047429455.1:c.362C>A, XM_047429463.1:c.356C>A, XM_047429464.1:c.260C>A, XM_047429465.1:c.260C>A, XM_047429466.1:c.587C>A, NP_008871.3:p.Pro132His, NP_694534.1:p.Pro119His, NP_001248343.1:p.Pro119His, NP_001248344.1:p.Pro122His, NP_001317714.1:p.Pro97His, XP_011519134.2:p.Pro196His, XP_011519137.1:p.Pro119His, XP_011519139.1:p.Pro119His, XP_011519135.1:p.Pro122His, XP_024304919.1:p.Pro119His, XP_016875383.1:p.Pro119His, XP_016875381.1:p.Pro119His, XP_024304918.1:p.Pro119His, XP_016875380.1:p.Pro119His, XP_024304921.1:p.Pro119His, XP_024304926.1:p.Pro119His, XP_024304927.1:p.Pro119His, XP_016875377.1:p.Pro161His, XP_016875378.1:p.Pro161His, XP_016875379.1:p.Pro119His, XP_024304925.1:p.Pro119His, XP_024304922.1:p.Pro119His, XP_016875382.1:p.Pro119His, XP_016875384.1:p.Pro119His, XP_016875391.2:p.Pro196His, XP_016875392.2:p.Pro196His, XP_047285418.1:p.Pro119His, XP_047285413.1:p.Pro119His, XP_047285417.1:p.Pro119His, XP_047285407.1:p.Pro196His, XP_047285416.1:p.Pro119His, XP_047285414.1:p.Pro119His, XP_047285415.1:p.Pro119His, XP_047285412.1:p.Pro119His, XP_047285408.1:p.Pro156His, XP_047285409.1:p.Pro156His, XP_047285410.1:p.Pro121His, XP_047285411.1:p.Pro121His, XP_047285419.1:p.Pro119His, XP_047285420.1:p.Pro87His, XP_047285421.1:p.Pro87His, XP_047285422.1:p.Pro196His

            6.

            rs1481780725 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,G [Show Flanks]
              Chromosome:
              12:23543338 (GRCh38)
              12:23696272 (GRCh37)
              Canonical SPDI:
              NC_000012.12:23543337:C:A,NC_000012.12:23543337:C:G
              Gene:
              SOX5 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              HGVS:
              NC_000012.12:g.23543338C>A, NC_000012.12:g.23543338C>G, NC_000012.11:g.23696272C>A, NC_000012.11:g.23696272C>G, NG_029612.2:g.1024109G>T, NG_029612.2:g.1024109G>C, NM_006940.6:c.1644G>T, NM_006940.6:c.1644G>C, NM_006940.5:c.1644G>T, NM_006940.5:c.1644G>C, NM_006940.4:c.1644G>T, NM_006940.4:c.1644G>C, NM_152989.5:c.1605G>T, NM_152989.5:c.1605G>C, NM_152989.4:c.1605G>T, NM_152989.4:c.1605G>C, NM_152989.3:c.1605G>T, NM_152989.3:c.1605G>C, NM_178010.4:c.486G>T, NM_178010.4:c.486G>C, NM_178010.3:c.486G>T, NM_178010.3:c.486G>C, NM_178010.2:c.486G>T, NM_178010.2:c.486G>C, NM_001261414.3:c.1281G>T, NM_001261414.3:c.1281G>C, NM_001261414.2:c.1281G>T, NM_001261414.2:c.1281G>C, NM_001261414.1:c.1281G>T, NM_001261414.1:c.1281G>C, NM_001261415.3:c.1614G>T, NM_001261415.3:c.1614G>C, NM_001261415.2:c.1614G>T, NM_001261415.2:c.1614G>C, NM_001261415.1:c.1614G>T, NM_001261415.1:c.1614G>C, NM_001330785.2:c.1539G>T, NM_001330785.2:c.1539G>C, NM_001330785.1:c.1539G>T, NM_001330785.1:c.1539G>C, XM_011520832.3:c.1839G>T, XM_011520832.3:c.1839G>C, XM_011520832.2:c.1647G>T, XM_011520832.2:c.1647G>C, XM_011520832.1:c.1647G>T, XM_011520832.1:c.1647G>C, XM_011520835.3:c.1608G>T, XM_011520835.3:c.1608G>C, XM_011520835.2:c.1608G>T, XM_011520835.2:c.1608G>C, XM_011520835.1:c.1608G>T, XM_011520835.1:c.1608G>C, XM_011520837.3:c.1608G>T, XM_011520837.3:c.1608G>C, XM_011520837.2:c.1608G>T, XM_011520837.2:c.1608G>C, XM_011520837.1:c.1608G>T, XM_011520837.1:c.1608G>C, XM_011520833.3:c.1617G>T, XM_011520833.3:c.1617G>C, XM_011520833.2:c.1617G>T, XM_011520833.2:c.1617G>C, XM_011520833.1:c.1617G>T, XM_011520833.1:c.1617G>C, XM_024449151.2:c.1608G>T, XM_024449151.2:c.1608G>C, XM_024449151.1:c.1608G>T, XM_024449151.1:c.1608G>C, XM_017019894.2:c.1608G>T, XM_017019894.2:c.1608G>C, XM_017019894.1:c.1608G>T, XM_017019894.1:c.1608G>C, XM_017019892.2:c.1608G>T, XM_017019892.2:c.1608G>C, XM_017019892.1:c.1608G>T, XM_017019892.1:c.1608G>C, XM_024449150.2:c.1608G>T, XM_024449150.2:c.1608G>C, XM_024449150.1:c.1608G>T, XM_024449150.1:c.1608G>C, XM_017019891.2:c.1608G>T, XM_017019891.2:c.1608G>C, XM_017019891.1:c.1608G>T, XM_017019891.1:c.1608G>C, XM_024449153.2:c.1608G>T, XM_024449153.2:c.1608G>C, XM_024449153.1:c.1608G>T, XM_024449153.1:c.1608G>C, XM_024449158.2:c.1608G>T, XM_024449158.2:c.1608G>C, XM_024449158.1:c.1608G>T, XM_024449158.1:c.1608G>C, XM_024449159.2:c.1608G>T, XM_024449159.2:c.1608G>C, XM_024449159.1:c.1608G>T, XM_024449159.1:c.1608G>C, XM_017019888.2:c.1734G>T, XM_017019888.2:c.1734G>C, XM_017019888.1:c.1734G>T, XM_017019888.1:c.1734G>C, XM_017019889.2:c.1731G>T, XM_017019889.2:c.1731G>C, XM_017019889.1:c.1731G>T, XM_017019889.1:c.1731G>C, XM_017019890.2:c.1608G>T, XM_017019890.2:c.1608G>C, XM_017019890.1:c.1608G>T, XM_017019890.1:c.1608G>C, XM_024449157.2:c.1608G>T, XM_024449157.2:c.1608G>C, XM_024449157.1:c.1608G>T, XM_024449157.1:c.1608G>C, XM_024449154.2:c.1608G>T, XM_024449154.2:c.1608G>C, XM_024449154.1:c.1608G>T, XM_024449154.1:c.1608G>C, XM_017019893.2:c.1608G>T, XM_017019893.2:c.1608G>C, XM_017019893.1:c.1608G>T, XM_017019893.1:c.1608G>C, XM_017019895.2:c.1608G>T, XM_017019895.2:c.1608G>C, XM_017019895.1:c.1608G>T, XM_017019895.1:c.1608G>C, XM_047429462.1:c.1608G>T, XM_047429462.1:c.1608G>C, XM_047429457.1:c.1608G>T, XM_047429457.1:c.1608G>C, XM_047429461.1:c.1608G>T, XM_047429461.1:c.1608G>C, XM_047429451.1:c.1836G>T, XM_047429451.1:c.1836G>C, XM_047429460.1:c.1608G>T, XM_047429460.1:c.1608G>C, XM_047429458.1:c.1608G>T, XM_047429458.1:c.1608G>C, XM_047429459.1:c.1608G>T, XM_047429459.1:c.1608G>C, XM_047429456.1:c.1608G>T, XM_047429456.1:c.1608G>C, XM_047429452.1:c.1719G>T, XM_047429452.1:c.1719G>C, XM_047429453.1:c.1716G>T, XM_047429453.1:c.1716G>C, XM_047429454.1:c.1614G>T, XM_047429454.1:c.1614G>C, XM_047429455.1:c.1611G>T, XM_047429455.1:c.1611G>C, XM_047429463.1:c.1605G>T, XM_047429463.1:c.1605G>C, XM_047429464.1:c.1512G>T, XM_047429464.1:c.1512G>C, XM_047429465.1:c.1509G>T, XM_047429465.1:c.1509G>C

              7.

              rs1475594370 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                12:23895834 (GRCh38)
                12:24048768 (GRCh37)
                Canonical SPDI:
                NC_000012.12:23895833:T:C
                Gene:
                SOX5 (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.00003/1 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                C=0.000007/1 (GnomAD)
                C=0.000011/3 (TOPMED)
                HGVS:
                NC_000012.12:g.23895834T>C, NC_000012.11:g.24048768T>C, NG_029612.2:g.671613A>G, NM_006940.6:c.229A>G, NM_006940.5:c.229A>G, NM_006940.4:c.229A>G, NM_152989.5:c.190A>G, NM_152989.4:c.190A>G, NM_152989.3:c.190A>G, NM_001261414.3:c.190A>G, NM_001261414.2:c.190A>G, NM_001261414.1:c.190A>G, NM_001261415.3:c.199A>G, NM_001261415.2:c.199A>G, NM_001261415.1:c.199A>G, XM_011520832.3:c.421A>G, XM_011520832.2:c.229A>G, XM_011520832.1:c.229A>G, XM_011520835.3:c.190A>G, XM_011520835.2:c.190A>G, XM_011520835.1:c.190A>G, XM_011520837.3:c.190A>G, XM_011520837.2:c.190A>G, XM_011520837.1:c.190A>G, XM_011520833.3:c.199A>G, XM_011520833.2:c.199A>G, XM_011520833.1:c.199A>G, XM_024449151.2:c.190A>G, XM_024449151.1:c.190A>G, XM_017019894.2:c.190A>G, XM_017019894.1:c.190A>G, XM_017019892.2:c.190A>G, XM_017019892.1:c.190A>G, XM_024449150.2:c.190A>G, XM_024449150.1:c.190A>G, XM_017019891.2:c.190A>G, XM_017019891.1:c.190A>G, XM_024449153.2:c.190A>G, XM_024449153.1:c.190A>G, XM_024449158.2:c.190A>G, XM_024449158.1:c.190A>G, XM_024449159.2:c.190A>G, XM_024449159.1:c.190A>G, XM_017019890.2:c.190A>G, XM_017019890.1:c.190A>G, XM_024449157.2:c.190A>G, XM_024449157.1:c.190A>G, XM_024449154.2:c.190A>G, XM_024449154.1:c.190A>G, XM_017019893.2:c.190A>G, XM_017019893.1:c.190A>G, XM_017019895.2:c.190A>G, XM_017019895.1:c.190A>G, XM_017019902.2:c.421A>G, XM_017019902.1:c.229A>G, XM_017019903.2:c.421A>G, XM_017019903.1:c.229A>G, XM_047429462.1:c.190A>G, XM_047429457.1:c.190A>G, XM_047429461.1:c.190A>G, XM_047429451.1:c.421A>G, XM_047429460.1:c.190A>G, XM_047429458.1:c.190A>G, XM_047429459.1:c.190A>G, XM_047429456.1:c.190A>G, XM_047429452.1:c.301A>G, XM_047429453.1:c.301A>G, XM_047429463.1:c.190A>G, XM_047429466.1:c.421A>G, NP_008871.3:p.Thr77Ala, NP_694534.1:p.Thr64Ala, NP_001248343.1:p.Thr64Ala, NP_001248344.1:p.Thr67Ala, XP_011519134.2:p.Thr141Ala, XP_011519137.1:p.Thr64Ala, XP_011519139.1:p.Thr64Ala, XP_011519135.1:p.Thr67Ala, XP_024304919.1:p.Thr64Ala, XP_016875383.1:p.Thr64Ala, XP_016875381.1:p.Thr64Ala, XP_024304918.1:p.Thr64Ala, XP_016875380.1:p.Thr64Ala, XP_024304921.1:p.Thr64Ala, XP_024304926.1:p.Thr64Ala, XP_024304927.1:p.Thr64Ala, XP_016875379.1:p.Thr64Ala, XP_024304925.1:p.Thr64Ala, XP_024304922.1:p.Thr64Ala, XP_016875382.1:p.Thr64Ala, XP_016875384.1:p.Thr64Ala, XP_016875391.2:p.Thr141Ala, XP_016875392.2:p.Thr141Ala, XP_047285418.1:p.Thr64Ala, XP_047285413.1:p.Thr64Ala, XP_047285417.1:p.Thr64Ala, XP_047285407.1:p.Thr141Ala, XP_047285416.1:p.Thr64Ala, XP_047285414.1:p.Thr64Ala, XP_047285415.1:p.Thr64Ala, XP_047285412.1:p.Thr64Ala, XP_047285408.1:p.Thr101Ala, XP_047285409.1:p.Thr101Ala, XP_047285419.1:p.Thr64Ala, XP_047285422.1:p.Thr141Ala

                8.

                rs1475570374 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  12:23846006 (GRCh38)
                  12:23998940 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:23846005:T:G
                  Gene:
                  SOX5 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000012.12:g.23846006T>G, NC_000012.11:g.23998940T>G, NG_029612.2:g.721441A>C, NM_006940.6:c.458A>C, NM_006940.5:c.458A>C, NM_006940.4:c.458A>C, NM_152989.5:c.419A>C, NM_152989.4:c.419A>C, NM_152989.3:c.419A>C, NM_001261414.3:c.419A>C, NM_001261414.2:c.419A>C, NM_001261414.1:c.419A>C, NM_001261415.3:c.428A>C, NM_001261415.2:c.428A>C, NM_001261415.1:c.428A>C, NM_001330785.2:c.353A>C, NM_001330785.1:c.353A>C, XM_011520832.3:c.650A>C, XM_011520832.2:c.458A>C, XM_011520832.1:c.458A>C, XM_011520835.3:c.419A>C, XM_011520835.2:c.419A>C, XM_011520835.1:c.419A>C, XM_011520837.3:c.419A>C, XM_011520837.2:c.419A>C, XM_011520837.1:c.419A>C, XM_011520833.3:c.428A>C, XM_011520833.2:c.428A>C, XM_011520833.1:c.428A>C, XM_024449151.2:c.419A>C, XM_024449151.1:c.419A>C, XM_017019894.2:c.419A>C, XM_017019894.1:c.419A>C, XM_017019892.2:c.419A>C, XM_017019892.1:c.419A>C, XM_024449150.2:c.419A>C, XM_024449150.1:c.419A>C, XM_017019891.2:c.419A>C, XM_017019891.1:c.419A>C, XM_024449153.2:c.419A>C, XM_024449153.1:c.419A>C, XM_024449158.2:c.419A>C, XM_024449158.1:c.419A>C, XM_024449159.2:c.419A>C, XM_024449159.1:c.419A>C, XM_017019888.2:c.545A>C, XM_017019888.1:c.545A>C, XM_017019889.2:c.545A>C, XM_017019889.1:c.545A>C, XM_017019890.2:c.419A>C, XM_017019890.1:c.419A>C, XM_024449157.2:c.419A>C, XM_024449157.1:c.419A>C, XM_024449154.2:c.419A>C, XM_024449154.1:c.419A>C, XM_017019893.2:c.419A>C, XM_017019893.1:c.419A>C, XM_017019895.2:c.419A>C, XM_017019895.1:c.419A>C, XM_017019902.2:c.650A>C, XM_017019902.1:c.458A>C, XM_017019903.2:c.650A>C, XM_017019903.1:c.458A>C, XM_047429462.1:c.419A>C, XM_047429457.1:c.419A>C, XM_047429461.1:c.419A>C, XM_047429451.1:c.650A>C, XM_047429460.1:c.419A>C, XM_047429458.1:c.419A>C, XM_047429459.1:c.419A>C, XM_047429456.1:c.419A>C, XM_047429452.1:c.530A>C, XM_047429453.1:c.530A>C, XM_047429454.1:c.425A>C, XM_047429455.1:c.425A>C, XM_047429463.1:c.419A>C, XM_047429464.1:c.323A>C, XM_047429465.1:c.323A>C, XM_047429466.1:c.650A>C, NP_008871.3:p.Glu153Ala, NP_694534.1:p.Glu140Ala, NP_001248343.1:p.Glu140Ala, NP_001248344.1:p.Glu143Ala, NP_001317714.1:p.Glu118Ala, XP_011519134.2:p.Glu217Ala, XP_011519137.1:p.Glu140Ala, XP_011519139.1:p.Glu140Ala, XP_011519135.1:p.Glu143Ala, XP_024304919.1:p.Glu140Ala, XP_016875383.1:p.Glu140Ala, XP_016875381.1:p.Glu140Ala, XP_024304918.1:p.Glu140Ala, XP_016875380.1:p.Glu140Ala, XP_024304921.1:p.Glu140Ala, XP_024304926.1:p.Glu140Ala, XP_024304927.1:p.Glu140Ala, XP_016875377.1:p.Glu182Ala, XP_016875378.1:p.Glu182Ala, XP_016875379.1:p.Glu140Ala, XP_024304925.1:p.Glu140Ala, XP_024304922.1:p.Glu140Ala, XP_016875382.1:p.Glu140Ala, XP_016875384.1:p.Glu140Ala, XP_016875391.2:p.Glu217Ala, XP_016875392.2:p.Glu217Ala, XP_047285418.1:p.Glu140Ala, XP_047285413.1:p.Glu140Ala, XP_047285417.1:p.Glu140Ala, XP_047285407.1:p.Glu217Ala, XP_047285416.1:p.Glu140Ala, XP_047285414.1:p.Glu140Ala, XP_047285415.1:p.Glu140Ala, XP_047285412.1:p.Glu140Ala, XP_047285408.1:p.Glu177Ala, XP_047285409.1:p.Glu177Ala, XP_047285410.1:p.Glu142Ala, XP_047285411.1:p.Glu142Ala, XP_047285419.1:p.Glu140Ala, XP_047285420.1:p.Glu108Ala, XP_047285421.1:p.Glu108Ala, XP_047285422.1:p.Glu217Ala

                  9.

                  rs1473456893 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    12:23896010 (GRCh38)
                    12:24048944 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:23896009:C:T
                    Gene:
                    SOX5 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000019/5 (TOPMED)
                    HGVS:
                    NC_000012.12:g.23896010C>T, NC_000012.11:g.24048944C>T, NG_029612.2:g.671437G>A, NM_006940.6:c.53G>A, NM_006940.5:c.53G>A, NM_006940.4:c.53G>A, NM_152989.5:c.14G>A, NM_152989.4:c.14G>A, NM_152989.3:c.14G>A, NM_001261414.3:c.14G>A, NM_001261414.2:c.14G>A, NM_001261414.1:c.14G>A, NM_001261415.3:c.23G>A, NM_001261415.2:c.23G>A, NM_001261415.1:c.23G>A, NM_001330785.2:c.53G>A, NM_001330785.1:c.53G>A, XM_011520832.3:c.245G>A, XM_011520832.2:c.53G>A, XM_011520832.1:c.53G>A, XM_011520835.3:c.14G>A, XM_011520835.2:c.14G>A, XM_011520835.1:c.14G>A, XM_011520837.3:c.14G>A, XM_011520837.2:c.14G>A, XM_011520837.1:c.14G>A, XM_011520833.3:c.23G>A, XM_011520833.2:c.23G>A, XM_011520833.1:c.23G>A, XM_024449151.2:c.14G>A, XM_024449151.1:c.14G>A, XM_017019894.2:c.14G>A, XM_017019894.1:c.14G>A, XM_017019892.2:c.14G>A, XM_017019892.1:c.14G>A, XM_024449150.2:c.14G>A, XM_024449150.1:c.14G>A, XM_017019891.2:c.14G>A, XM_017019891.1:c.14G>A, XM_024449153.2:c.14G>A, XM_024449153.1:c.14G>A, XM_024449158.2:c.14G>A, XM_024449158.1:c.14G>A, XM_024449159.2:c.14G>A, XM_024449159.1:c.14G>A, XM_017019888.2:c.245G>A, XM_017019888.1:c.245G>A, XM_017019889.2:c.245G>A, XM_017019889.1:c.245G>A, XM_017019890.2:c.14G>A, XM_017019890.1:c.14G>A, XM_024449157.2:c.14G>A, XM_024449157.1:c.14G>A, XM_024449154.2:c.14G>A, XM_024449154.1:c.14G>A, XM_017019893.2:c.14G>A, XM_017019893.1:c.14G>A, XM_017019895.2:c.14G>A, XM_017019895.1:c.14G>A, XM_017019902.2:c.245G>A, XM_017019902.1:c.53G>A, XM_017019903.2:c.245G>A, XM_017019903.1:c.53G>A, XM_047429462.1:c.14G>A, XM_047429457.1:c.14G>A, XM_047429461.1:c.14G>A, XM_047429451.1:c.245G>A, XM_047429460.1:c.14G>A, XM_047429458.1:c.14G>A, XM_047429459.1:c.14G>A, XM_047429456.1:c.14G>A, XM_047429452.1:c.125G>A, XM_047429453.1:c.125G>A, XM_047429454.1:c.125G>A, XM_047429455.1:c.125G>A, XM_047429463.1:c.14G>A, XM_047429464.1:c.23G>A, XM_047429465.1:c.23G>A, XM_047429466.1:c.245G>A, NP_008871.3:p.Arg18Gln, NP_694534.1:p.Arg5Gln, NP_001248343.1:p.Arg5Gln, NP_001248344.1:p.Arg8Gln, NP_001317714.1:p.Arg18Gln, XP_011519134.2:p.Arg82Gln, XP_011519137.1:p.Arg5Gln, XP_011519139.1:p.Arg5Gln, XP_011519135.1:p.Arg8Gln, XP_024304919.1:p.Arg5Gln, XP_016875383.1:p.Arg5Gln, XP_016875381.1:p.Arg5Gln, XP_024304918.1:p.Arg5Gln, XP_016875380.1:p.Arg5Gln, XP_024304921.1:p.Arg5Gln, XP_024304926.1:p.Arg5Gln, XP_024304927.1:p.Arg5Gln, XP_016875377.1:p.Arg82Gln, XP_016875378.1:p.Arg82Gln, XP_016875379.1:p.Arg5Gln, XP_024304925.1:p.Arg5Gln, XP_024304922.1:p.Arg5Gln, XP_016875382.1:p.Arg5Gln, XP_016875384.1:p.Arg5Gln, XP_016875391.2:p.Arg82Gln, XP_016875392.2:p.Arg82Gln, XP_047285418.1:p.Arg5Gln, XP_047285413.1:p.Arg5Gln, XP_047285417.1:p.Arg5Gln, XP_047285407.1:p.Arg82Gln, XP_047285416.1:p.Arg5Gln, XP_047285414.1:p.Arg5Gln, XP_047285415.1:p.Arg5Gln, XP_047285412.1:p.Arg5Gln, XP_047285408.1:p.Arg42Gln, XP_047285409.1:p.Arg42Gln, XP_047285410.1:p.Arg42Gln, XP_047285411.1:p.Arg42Gln, XP_047285419.1:p.Arg5Gln, XP_047285420.1:p.Arg8Gln, XP_047285421.1:p.Arg8Gln, XP_047285422.1:p.Arg82Gln

                    10.

                    rs1471908639 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      12:23536457 (GRCh38)
                      12:23689391 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:23536456:C:T
                      Gene:
                      SOX5 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000008/2 (GnomAD_exomes)
                      HGVS:
                      NC_000012.12:g.23536457C>T, NC_000012.11:g.23689391C>T, NG_029612.2:g.1030990G>A, NM_006940.6:c.1984G>A, NM_006940.5:c.1984G>A, NM_006940.4:c.1984G>A, NM_152989.5:c.1945G>A, NM_152989.4:c.1945G>A, NM_152989.3:c.1945G>A, NM_178010.4:c.826G>A, NM_178010.3:c.826G>A, NM_178010.2:c.826G>A, NM_001261414.3:c.1621G>A, NM_001261414.2:c.1621G>A, NM_001261414.1:c.1621G>A, NM_001261415.3:c.1954G>A, NM_001261415.2:c.1954G>A, NM_001261415.1:c.1954G>A, NM_001330785.2:c.1879G>A, NM_001330785.1:c.1879G>A, XM_011520832.3:c.2179G>A, XM_011520832.2:c.1987G>A, XM_011520832.1:c.1987G>A, XM_011520835.3:c.1948G>A, XM_011520835.2:c.1948G>A, XM_011520835.1:c.1948G>A, XM_011520837.3:c.1948G>A, XM_011520837.2:c.1948G>A, XM_011520837.1:c.1948G>A, XM_011520833.3:c.1957G>A, XM_011520833.2:c.1957G>A, XM_011520833.1:c.1957G>A, XM_024449151.2:c.1948G>A, XM_024449151.1:c.1948G>A, XM_017019894.2:c.1948G>A, XM_017019894.1:c.1948G>A, XM_017019892.2:c.1948G>A, XM_017019892.1:c.1948G>A, XM_024449150.2:c.1948G>A, XM_024449150.1:c.1948G>A, XM_017019891.2:c.1948G>A, XM_017019891.1:c.1948G>A, XM_024449153.2:c.1948G>A, XM_024449153.1:c.1948G>A, XM_024449158.2:c.1948G>A, XM_024449158.1:c.1948G>A, XM_024449159.2:c.1948G>A, XM_024449159.1:c.1948G>A, XM_017019888.2:c.2074G>A, XM_017019888.1:c.2074G>A, XM_017019889.2:c.2071G>A, XM_017019889.1:c.2071G>A, XM_017019890.2:c.1948G>A, XM_017019890.1:c.1948G>A, XM_024449157.2:c.1948G>A, XM_024449157.1:c.1948G>A, XM_024449154.2:c.1948G>A, XM_024449154.1:c.1948G>A, XM_017019893.2:c.1948G>A, XM_017019893.1:c.1948G>A, XM_017019895.2:c.1948G>A, XM_017019895.1:c.1948G>A, XM_047429462.1:c.1948G>A, XM_047429457.1:c.1948G>A, XM_047429461.1:c.1948G>A, XM_047429451.1:c.2176G>A, XM_047429460.1:c.1948G>A, XM_047429458.1:c.1948G>A, XM_047429459.1:c.1948G>A, XM_047429456.1:c.1948G>A, XM_047429452.1:c.2059G>A, XM_047429453.1:c.2056G>A, XM_047429454.1:c.1954G>A, XM_047429455.1:c.1951G>A, XM_047429463.1:c.1945G>A, XM_047429464.1:c.1852G>A, XM_047429465.1:c.1849G>A, NP_008871.3:p.Val662Ile, NP_694534.1:p.Val649Ile, NP_821078.1:p.Val276Ile, NP_001248343.1:p.Val541Ile, NP_001248344.1:p.Val652Ile, NP_001317714.1:p.Val627Ile, XP_011519134.2:p.Val727Ile, XP_011519137.1:p.Val650Ile, XP_011519139.1:p.Val650Ile, XP_011519135.1:p.Val653Ile, XP_024304919.1:p.Val650Ile, XP_016875383.1:p.Val650Ile, XP_016875381.1:p.Val650Ile, XP_024304918.1:p.Val650Ile, XP_016875380.1:p.Val650Ile, XP_024304921.1:p.Val650Ile, XP_024304926.1:p.Val650Ile, XP_024304927.1:p.Val650Ile, XP_016875377.1:p.Val692Ile, XP_016875378.1:p.Val691Ile, XP_016875379.1:p.Val650Ile, XP_024304925.1:p.Val650Ile, XP_024304922.1:p.Val650Ile, XP_016875382.1:p.Val650Ile, XP_016875384.1:p.Val650Ile, XP_047285418.1:p.Val650Ile, XP_047285413.1:p.Val650Ile, XP_047285417.1:p.Val650Ile, XP_047285407.1:p.Val726Ile, XP_047285416.1:p.Val650Ile, XP_047285414.1:p.Val650Ile, XP_047285415.1:p.Val650Ile, XP_047285412.1:p.Val650Ile, XP_047285408.1:p.Val687Ile, XP_047285409.1:p.Val686Ile, XP_047285410.1:p.Val652Ile, XP_047285411.1:p.Val651Ile, XP_047285419.1:p.Val649Ile, XP_047285420.1:p.Val618Ile, XP_047285421.1:p.Val617Ile

                      11.

                      rs1464558637 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        T>- [Show Flanks]
                        Chromosome:
                        12:23534325 (GRCh38)
                        12:23687259 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:23534324:T:
                        Gene:
                        SOX5 (Varview)
                        Functional Consequence:
                        frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0.000111/1 (ALFA)
                        -=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000012.12:g.23534325del, NC_000012.11:g.23687259del, NG_029612.2:g.1033122del, NM_006940.6:c.2186del, NM_006940.5:c.2186del, NM_006940.4:c.2186del, NM_152989.5:c.2147del, NM_152989.4:c.2147del, NM_152989.3:c.2147del, NM_178010.4:c.1028del, NM_178010.3:c.1028del, NM_178010.2:c.1028del, NM_001261414.3:c.1823del, NM_001261414.2:c.1823del, NM_001261414.1:c.1823del, NM_001261415.3:c.2156del, NM_001261415.2:c.2156del, NM_001261415.1:c.2156del, NM_001330785.2:c.2081del, NM_001330785.1:c.2081del, XM_011520832.3:c.2381del, XM_011520832.2:c.2189del, XM_011520832.1:c.2189del, XM_011520835.3:c.2150del, XM_011520835.2:c.2150del, XM_011520835.1:c.2150del, XM_011520837.3:c.2150del, XM_011520837.2:c.2150del, XM_011520837.1:c.2150del, XM_011520833.3:c.2159del, XM_011520833.2:c.2159del, XM_011520833.1:c.2159del, XM_024449151.2:c.2150del, XM_024449151.1:c.2150del, XM_017019894.2:c.2150del, XM_017019894.1:c.2150del, XM_017019892.2:c.2150del, XM_017019892.1:c.2150del, XM_024449150.2:c.2150del, XM_024449150.1:c.2150del, XM_017019891.2:c.2150del, XM_017019891.1:c.2150del, XM_024449153.2:c.2150del, XM_024449153.1:c.2150del, XM_024449158.2:c.2150del, XM_024449158.1:c.2150del, XM_024449159.2:c.2150del, XM_024449159.1:c.2150del, XM_017019888.2:c.2276del, XM_017019888.1:c.2276del, XM_017019889.2:c.2273del, XM_017019889.1:c.2273del, XM_017019890.2:c.2150del, XM_017019890.1:c.2150del, XM_024449157.2:c.2150del, XM_024449157.1:c.2150del, XM_024449154.2:c.2150del, XM_024449154.1:c.2150del, XM_017019893.2:c.2150del, XM_017019893.1:c.2150del, XM_017019895.2:c.2150del, XM_017019895.1:c.2150del, XM_047429462.1:c.2150del, XM_047429457.1:c.2150del, XM_047429461.1:c.2150del, XM_047429451.1:c.2378del, XM_047429460.1:c.2150del, XM_047429458.1:c.2150del, XM_047429459.1:c.2150del, XM_047429456.1:c.2150del, XM_047429452.1:c.2261del, XM_047429453.1:c.2258del, XM_047429454.1:c.2156del, XM_047429455.1:c.2153del, XM_047429463.1:c.2147del, XM_047429464.1:c.2054del, XM_047429465.1:c.2051del, NP_008871.3:p.Glu729fs, NP_694534.1:p.Glu716fs, NP_821078.1:p.Glu343fs, NP_001248343.1:p.Glu608fs, NP_001248344.1:p.Glu719fs, NP_001317714.1:p.Glu694fs, XP_011519134.2:p.Glu794fs, XP_011519137.1:p.Glu717fs, XP_011519139.1:p.Glu717fs, XP_011519135.1:p.Glu720fs, XP_024304919.1:p.Glu717fs, XP_016875383.1:p.Glu717fs, XP_016875381.1:p.Glu717fs, XP_024304918.1:p.Glu717fs, XP_016875380.1:p.Glu717fs, XP_024304921.1:p.Glu717fs, XP_024304926.1:p.Glu717fs, XP_024304927.1:p.Glu717fs, XP_016875377.1:p.Glu759fs, XP_016875378.1:p.Glu758fs, XP_016875379.1:p.Glu717fs, XP_024304925.1:p.Glu717fs, XP_024304922.1:p.Glu717fs, XP_016875382.1:p.Glu717fs, XP_016875384.1:p.Glu717fs, XP_047285418.1:p.Glu717fs, XP_047285413.1:p.Glu717fs, XP_047285417.1:p.Glu717fs, XP_047285407.1:p.Glu793fs, XP_047285416.1:p.Glu717fs, XP_047285414.1:p.Glu717fs, XP_047285415.1:p.Glu717fs, XP_047285412.1:p.Glu717fs, XP_047285408.1:p.Glu754fs, XP_047285409.1:p.Glu753fs, XP_047285410.1:p.Glu719fs, XP_047285411.1:p.Glu718fs, XP_047285419.1:p.Glu716fs, XP_047285420.1:p.Glu685fs, XP_047285421.1:p.Glu684fs

                        12.

                        rs1463717588 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          12:23665546 (GRCh38)
                          12:23818480 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:23665545:G:A
                          Gene:
                          SOX5 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,genic_upstream_transcript_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_000012.12:g.23665546G>A, NC_000012.11:g.23818480G>A, NG_029612.2:g.901901C>T, NM_006940.6:c.829C>T, NM_006940.5:c.829C>T, NM_006940.4:c.829C>T, NM_152989.5:c.790C>T, NM_152989.4:c.790C>T, NM_152989.3:c.790C>T, NM_001261414.3:c.790C>T, NM_001261414.2:c.790C>T, NM_001261414.1:c.790C>T, NM_001261415.3:c.799C>T, NM_001261415.2:c.799C>T, NM_001261415.1:c.799C>T, NM_001330785.2:c.724C>T, NM_001330785.1:c.724C>T, XM_011520832.3:c.1024C>T, XM_011520832.2:c.832C>T, XM_011520832.1:c.832C>T, XM_011520835.3:c.793C>T, XM_011520835.2:c.793C>T, XM_011520835.1:c.793C>T, XM_011520837.3:c.793C>T, XM_011520837.2:c.793C>T, XM_011520837.1:c.793C>T, XM_011520833.3:c.802C>T, XM_011520833.2:c.802C>T, XM_011520833.1:c.802C>T, XM_024449151.2:c.793C>T, XM_024449151.1:c.793C>T, XM_017019894.2:c.793C>T, XM_017019894.1:c.793C>T, XM_017019892.2:c.793C>T, XM_017019892.1:c.793C>T, XM_024449150.2:c.793C>T, XM_024449150.1:c.793C>T, XM_017019891.2:c.793C>T, XM_017019891.1:c.793C>T, XM_024449153.2:c.793C>T, XM_024449153.1:c.793C>T, XM_024449158.2:c.793C>T, XM_024449158.1:c.793C>T, XM_024449159.2:c.793C>T, XM_024449159.1:c.793C>T, XM_017019888.2:c.919C>T, XM_017019888.1:c.919C>T, XM_017019889.2:c.916C>T, XM_017019889.1:c.916C>T, XM_017019890.2:c.793C>T, XM_017019890.1:c.793C>T, XM_024449157.2:c.793C>T, XM_024449157.1:c.793C>T, XM_024449154.2:c.793C>T, XM_024449154.1:c.793C>T, XM_017019893.2:c.793C>T, XM_017019893.1:c.793C>T, XM_017019895.2:c.793C>T, XM_017019895.1:c.793C>T, XM_017019902.2:c.1024C>T, XM_017019902.1:c.832C>T, XM_017019903.2:c.1021C>T, XM_017019903.1:c.829C>T, XM_047429462.1:c.793C>T, XM_047429457.1:c.793C>T, XM_047429461.1:c.793C>T, XM_047429451.1:c.1021C>T, XM_047429460.1:c.793C>T, XM_047429458.1:c.793C>T, XM_047429459.1:c.793C>T, XM_047429456.1:c.793C>T, XM_047429452.1:c.904C>T, XM_047429453.1:c.901C>T, XM_047429454.1:c.799C>T, XM_047429455.1:c.796C>T, XM_047429463.1:c.790C>T, XM_047429464.1:c.697C>T, XM_047429465.1:c.694C>T, XM_047429466.1:c.1024C>T, NP_008871.3:p.Pro277Ser, NP_694534.1:p.Pro264Ser, NP_001248343.1:p.Pro264Ser, NP_001248344.1:p.Pro267Ser, NP_001317714.1:p.Pro242Ser, XP_011519134.2:p.Pro342Ser, XP_011519137.1:p.Pro265Ser, XP_011519139.1:p.Pro265Ser, XP_011519135.1:p.Pro268Ser, XP_024304919.1:p.Pro265Ser, XP_016875383.1:p.Pro265Ser, XP_016875381.1:p.Pro265Ser, XP_024304918.1:p.Pro265Ser, XP_016875380.1:p.Pro265Ser, XP_024304921.1:p.Pro265Ser, XP_024304926.1:p.Pro265Ser, XP_024304927.1:p.Pro265Ser, XP_016875377.1:p.Pro307Ser, XP_016875378.1:p.Pro306Ser, XP_016875379.1:p.Pro265Ser, XP_024304925.1:p.Pro265Ser, XP_024304922.1:p.Pro265Ser, XP_016875382.1:p.Pro265Ser, XP_016875384.1:p.Pro265Ser, XP_016875391.2:p.Pro342Ser, XP_016875392.2:p.Pro341Ser, XP_047285418.1:p.Pro265Ser, XP_047285413.1:p.Pro265Ser, XP_047285417.1:p.Pro265Ser, XP_047285407.1:p.Pro341Ser, XP_047285416.1:p.Pro265Ser, XP_047285414.1:p.Pro265Ser, XP_047285415.1:p.Pro265Ser, XP_047285412.1:p.Pro265Ser, XP_047285408.1:p.Pro302Ser, XP_047285409.1:p.Pro301Ser, XP_047285410.1:p.Pro267Ser, XP_047285411.1:p.Pro266Ser, XP_047285419.1:p.Pro264Ser, XP_047285420.1:p.Pro233Ser, XP_047285421.1:p.Pro232Ser, XP_047285422.1:p.Pro342Ser

                          13.

                          rs1463087817 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            12:23534433 (GRCh38)
                            12:23687367 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:23534432:G:A
                            Gene:
                            SOX5 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                            Clinical significance:
                            uncertain-significance
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000012.12:g.23534433G>A, NC_000012.11:g.23687367G>A, NG_029612.2:g.1033014C>T, NM_006940.6:c.2078C>T, NM_006940.5:c.2078C>T, NM_006940.4:c.2078C>T, NM_152989.5:c.2039C>T, NM_152989.4:c.2039C>T, NM_152989.3:c.2039C>T, NM_178010.4:c.920C>T, NM_178010.3:c.920C>T, NM_178010.2:c.920C>T, NM_001261414.3:c.1715C>T, NM_001261414.2:c.1715C>T, NM_001261414.1:c.1715C>T, NM_001261415.3:c.2048C>T, NM_001261415.2:c.2048C>T, NM_001261415.1:c.2048C>T, NM_001330785.2:c.1973C>T, NM_001330785.1:c.1973C>T, XM_011520832.3:c.2273C>T, XM_011520832.2:c.2081C>T, XM_011520832.1:c.2081C>T, XM_011520835.3:c.2042C>T, XM_011520835.2:c.2042C>T, XM_011520835.1:c.2042C>T, XM_011520837.3:c.2042C>T, XM_011520837.2:c.2042C>T, XM_011520837.1:c.2042C>T, XM_011520833.3:c.2051C>T, XM_011520833.2:c.2051C>T, XM_011520833.1:c.2051C>T, XM_024449151.2:c.2042C>T, XM_024449151.1:c.2042C>T, XM_017019894.2:c.2042C>T, XM_017019894.1:c.2042C>T, XM_017019892.2:c.2042C>T, XM_017019892.1:c.2042C>T, XM_024449150.2:c.2042C>T, XM_024449150.1:c.2042C>T, XM_017019891.2:c.2042C>T, XM_017019891.1:c.2042C>T, XM_024449153.2:c.2042C>T, XM_024449153.1:c.2042C>T, XM_024449158.2:c.2042C>T, XM_024449158.1:c.2042C>T, XM_024449159.2:c.2042C>T, XM_024449159.1:c.2042C>T, XM_017019888.2:c.2168C>T, XM_017019888.1:c.2168C>T, XM_017019889.2:c.2165C>T, XM_017019889.1:c.2165C>T, XM_017019890.2:c.2042C>T, XM_017019890.1:c.2042C>T, XM_024449157.2:c.2042C>T, XM_024449157.1:c.2042C>T, XM_024449154.2:c.2042C>T, XM_024449154.1:c.2042C>T, XM_017019893.2:c.2042C>T, XM_017019893.1:c.2042C>T, XM_017019895.2:c.2042C>T, XM_017019895.1:c.2042C>T, XM_047429462.1:c.2042C>T, XM_047429457.1:c.2042C>T, XM_047429461.1:c.2042C>T, XM_047429451.1:c.2270C>T, XM_047429460.1:c.2042C>T, XM_047429458.1:c.2042C>T, XM_047429459.1:c.2042C>T, XM_047429456.1:c.2042C>T, XM_047429452.1:c.2153C>T, XM_047429453.1:c.2150C>T, XM_047429454.1:c.2048C>T, XM_047429455.1:c.2045C>T, XM_047429463.1:c.2039C>T, XM_047429464.1:c.1946C>T, XM_047429465.1:c.1943C>T, NP_008871.3:p.Ser693Leu, NP_694534.1:p.Ser680Leu, NP_821078.1:p.Ser307Leu, NP_001248343.1:p.Ser572Leu, NP_001248344.1:p.Ser683Leu, NP_001317714.1:p.Ser658Leu, XP_011519134.2:p.Ser758Leu, XP_011519137.1:p.Ser681Leu, XP_011519139.1:p.Ser681Leu, XP_011519135.1:p.Ser684Leu, XP_024304919.1:p.Ser681Leu, XP_016875383.1:p.Ser681Leu, XP_016875381.1:p.Ser681Leu, XP_024304918.1:p.Ser681Leu, XP_016875380.1:p.Ser681Leu, XP_024304921.1:p.Ser681Leu, XP_024304926.1:p.Ser681Leu, XP_024304927.1:p.Ser681Leu, XP_016875377.1:p.Ser723Leu, XP_016875378.1:p.Ser722Leu, XP_016875379.1:p.Ser681Leu, XP_024304925.1:p.Ser681Leu, XP_024304922.1:p.Ser681Leu, XP_016875382.1:p.Ser681Leu, XP_016875384.1:p.Ser681Leu, XP_047285418.1:p.Ser681Leu, XP_047285413.1:p.Ser681Leu, XP_047285417.1:p.Ser681Leu, XP_047285407.1:p.Ser757Leu, XP_047285416.1:p.Ser681Leu, XP_047285414.1:p.Ser681Leu, XP_047285415.1:p.Ser681Leu, XP_047285412.1:p.Ser681Leu, XP_047285408.1:p.Ser718Leu, XP_047285409.1:p.Ser717Leu, XP_047285410.1:p.Ser683Leu, XP_047285411.1:p.Ser682Leu, XP_047285419.1:p.Ser680Leu, XP_047285420.1:p.Ser649Leu, XP_047285421.1:p.Ser648Leu

                            14.

                            rs1458260270 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              12:23575747 (GRCh38)
                              12:23728681 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:23575746:G:A
                              Gene:
                              SOX5 (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              NC_000012.12:g.23575747G>A, NC_000012.11:g.23728681G>A, NG_029612.2:g.991700C>T, NM_006940.6:c.1256C>T, NM_006940.5:c.1256C>T, NM_006940.4:c.1256C>T, NM_152989.5:c.1217C>T, NM_152989.4:c.1217C>T, NM_152989.3:c.1217C>T, NM_178010.4:c.98C>T, NM_178010.3:c.98C>T, NM_178010.2:c.98C>T, NM_001261415.3:c.1226C>T, NM_001261415.2:c.1226C>T, NM_001261415.1:c.1226C>T, NM_001330785.2:c.1151C>T, NM_001330785.1:c.1151C>T, XM_011520832.3:c.1451C>T, XM_011520832.2:c.1259C>T, XM_011520832.1:c.1259C>T, XM_011520835.3:c.1220C>T, XM_011520835.2:c.1220C>T, XM_011520835.1:c.1220C>T, XM_011520837.3:c.1220C>T, XM_011520837.2:c.1220C>T, XM_011520837.1:c.1220C>T, XM_011520833.3:c.1229C>T, XM_011520833.2:c.1229C>T, XM_011520833.1:c.1229C>T, XM_024449151.2:c.1220C>T, XM_024449151.1:c.1220C>T, XM_017019894.2:c.1220C>T, XM_017019894.1:c.1220C>T, XM_017019892.2:c.1220C>T, XM_017019892.1:c.1220C>T, XM_024449150.2:c.1220C>T, XM_024449150.1:c.1220C>T, XM_017019891.2:c.1220C>T, XM_017019891.1:c.1220C>T, XM_024449153.2:c.1220C>T, XM_024449153.1:c.1220C>T, XM_024449158.2:c.1220C>T, XM_024449158.1:c.1220C>T, XM_024449159.2:c.1220C>T, XM_024449159.1:c.1220C>T, XM_017019888.2:c.1346C>T, XM_017019888.1:c.1346C>T, XM_017019889.2:c.1343C>T, XM_017019889.1:c.1343C>T, XM_017019890.2:c.1220C>T, XM_017019890.1:c.1220C>T, XM_024449157.2:c.1220C>T, XM_024449157.1:c.1220C>T, XM_024449154.2:c.1220C>T, XM_024449154.1:c.1220C>T, XM_017019893.2:c.1220C>T, XM_017019893.1:c.1220C>T, XM_017019895.2:c.1220C>T, XM_017019895.1:c.1220C>T, XM_047429462.1:c.1220C>T, XM_047429457.1:c.1220C>T, XM_047429461.1:c.1220C>T, XM_047429451.1:c.1448C>T, XM_047429460.1:c.1220C>T, XM_047429458.1:c.1220C>T, XM_047429459.1:c.1220C>T, XM_047429456.1:c.1220C>T, XM_047429452.1:c.1331C>T, XM_047429453.1:c.1328C>T, XM_047429454.1:c.1226C>T, XM_047429455.1:c.1223C>T, XM_047429463.1:c.1217C>T, XM_047429464.1:c.1124C>T, XM_047429465.1:c.1121C>T, NP_008871.3:p.Ala419Val, NP_694534.1:p.Ala406Val, NP_821078.1:p.Ala33Val, NP_001248344.1:p.Ala409Val, NP_001317714.1:p.Ala384Val, XP_011519134.2:p.Ala484Val, XP_011519137.1:p.Ala407Val, XP_011519139.1:p.Ala407Val, XP_011519135.1:p.Ala410Val, XP_024304919.1:p.Ala407Val, XP_016875383.1:p.Ala407Val, XP_016875381.1:p.Ala407Val, XP_024304918.1:p.Ala407Val, XP_016875380.1:p.Ala407Val, XP_024304921.1:p.Ala407Val, XP_024304926.1:p.Ala407Val, XP_024304927.1:p.Ala407Val, XP_016875377.1:p.Ala449Val, XP_016875378.1:p.Ala448Val, XP_016875379.1:p.Ala407Val, XP_024304925.1:p.Ala407Val, XP_024304922.1:p.Ala407Val, XP_016875382.1:p.Ala407Val, XP_016875384.1:p.Ala407Val, XP_047285418.1:p.Ala407Val, XP_047285413.1:p.Ala407Val, XP_047285417.1:p.Ala407Val, XP_047285407.1:p.Ala483Val, XP_047285416.1:p.Ala407Val, XP_047285414.1:p.Ala407Val, XP_047285415.1:p.Ala407Val, XP_047285412.1:p.Ala407Val, XP_047285408.1:p.Ala444Val, XP_047285409.1:p.Ala443Val, XP_047285410.1:p.Ala409Val, XP_047285411.1:p.Ala408Val, XP_047285419.1:p.Ala406Val, XP_047285420.1:p.Ala375Val, XP_047285421.1:p.Ala374Val

                              15.

                              rs1455879338 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C,T [Show Flanks]
                                Chromosome:
                                12:23846030 (GRCh38)
                                12:23998964 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:23846029:G:C,NC_000012.12:23846029:G:T
                                Gene:
                                SOX5 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000012.12:g.23846030G>C, NC_000012.12:g.23846030G>T, NC_000012.11:g.23998964G>C, NC_000012.11:g.23998964G>T, NG_029612.2:g.721417C>G, NG_029612.2:g.721417C>A, NM_006940.6:c.434C>G, NM_006940.6:c.434C>A, NM_006940.5:c.434C>G, NM_006940.5:c.434C>A, NM_006940.4:c.434C>G, NM_006940.4:c.434C>A, NM_152989.5:c.395C>G, NM_152989.5:c.395C>A, NM_152989.4:c.395C>G, NM_152989.4:c.395C>A, NM_152989.3:c.395C>G, NM_152989.3:c.395C>A, NM_001261414.3:c.395C>G, NM_001261414.3:c.395C>A, NM_001261414.2:c.395C>G, NM_001261414.2:c.395C>A, NM_001261414.1:c.395C>G, NM_001261414.1:c.395C>A, NM_001261415.3:c.404C>G, NM_001261415.3:c.404C>A, NM_001261415.2:c.404C>G, NM_001261415.2:c.404C>A, NM_001261415.1:c.404C>G, NM_001261415.1:c.404C>A, NM_001330785.2:c.329C>G, NM_001330785.2:c.329C>A, NM_001330785.1:c.329C>G, NM_001330785.1:c.329C>A, XM_011520832.3:c.626C>G, XM_011520832.3:c.626C>A, XM_011520832.2:c.434C>G, XM_011520832.2:c.434C>A, XM_011520832.1:c.434C>G, XM_011520832.1:c.434C>A, XM_011520835.3:c.395C>G, XM_011520835.3:c.395C>A, XM_011520835.2:c.395C>G, XM_011520835.2:c.395C>A, XM_011520835.1:c.395C>G, XM_011520835.1:c.395C>A, XM_011520837.3:c.395C>G, XM_011520837.3:c.395C>A, XM_011520837.2:c.395C>G, XM_011520837.2:c.395C>A, XM_011520837.1:c.395C>G, XM_011520837.1:c.395C>A, XM_011520833.3:c.404C>G, XM_011520833.3:c.404C>A, XM_011520833.2:c.404C>G, XM_011520833.2:c.404C>A, XM_011520833.1:c.404C>G, XM_011520833.1:c.404C>A, XM_024449151.2:c.395C>G, XM_024449151.2:c.395C>A, XM_024449151.1:c.395C>G, XM_024449151.1:c.395C>A, XM_017019894.2:c.395C>G, XM_017019894.2:c.395C>A, XM_017019894.1:c.395C>G, XM_017019894.1:c.395C>A, XM_017019892.2:c.395C>G, XM_017019892.2:c.395C>A, XM_017019892.1:c.395C>G, XM_017019892.1:c.395C>A, XM_024449150.2:c.395C>G, XM_024449150.2:c.395C>A, XM_024449150.1:c.395C>G, XM_024449150.1:c.395C>A, XM_017019891.2:c.395C>G, XM_017019891.2:c.395C>A, XM_017019891.1:c.395C>G, XM_017019891.1:c.395C>A, XM_024449153.2:c.395C>G, XM_024449153.2:c.395C>A, XM_024449153.1:c.395C>G, XM_024449153.1:c.395C>A, XM_024449158.2:c.395C>G, XM_024449158.2:c.395C>A, XM_024449158.1:c.395C>G, XM_024449158.1:c.395C>A, XM_024449159.2:c.395C>G, XM_024449159.2:c.395C>A, XM_024449159.1:c.395C>G, XM_024449159.1:c.395C>A, XM_017019888.2:c.521C>G, XM_017019888.2:c.521C>A, XM_017019888.1:c.521C>G, XM_017019888.1:c.521C>A, XM_017019889.2:c.521C>G, XM_017019889.2:c.521C>A, XM_017019889.1:c.521C>G, XM_017019889.1:c.521C>A, XM_017019890.2:c.395C>G, XM_017019890.2:c.395C>A, XM_017019890.1:c.395C>G, XM_017019890.1:c.395C>A, XM_024449157.2:c.395C>G, XM_024449157.2:c.395C>A, XM_024449157.1:c.395C>G, XM_024449157.1:c.395C>A, XM_024449154.2:c.395C>G, XM_024449154.2:c.395C>A, XM_024449154.1:c.395C>G, XM_024449154.1:c.395C>A, XM_017019893.2:c.395C>G, XM_017019893.2:c.395C>A, XM_017019893.1:c.395C>G, XM_017019893.1:c.395C>A, XM_017019895.2:c.395C>G, XM_017019895.2:c.395C>A, XM_017019895.1:c.395C>G, XM_017019895.1:c.395C>A, XM_017019902.2:c.626C>G, XM_017019902.2:c.626C>A, XM_017019902.1:c.434C>G, XM_017019902.1:c.434C>A, XM_017019903.2:c.626C>G, XM_017019903.2:c.626C>A, XM_017019903.1:c.434C>G, XM_017019903.1:c.434C>A, XM_047429462.1:c.395C>G, XM_047429462.1:c.395C>A, XM_047429457.1:c.395C>G, XM_047429457.1:c.395C>A, XM_047429461.1:c.395C>G, XM_047429461.1:c.395C>A, XM_047429451.1:c.626C>G, XM_047429451.1:c.626C>A, XM_047429460.1:c.395C>G, XM_047429460.1:c.395C>A, XM_047429458.1:c.395C>G, XM_047429458.1:c.395C>A, XM_047429459.1:c.395C>G, XM_047429459.1:c.395C>A, XM_047429456.1:c.395C>G, XM_047429456.1:c.395C>A, XM_047429452.1:c.506C>G, XM_047429452.1:c.506C>A, XM_047429453.1:c.506C>G, XM_047429453.1:c.506C>A, XM_047429454.1:c.401C>G, XM_047429454.1:c.401C>A, XM_047429455.1:c.401C>G, XM_047429455.1:c.401C>A, XM_047429463.1:c.395C>G, XM_047429463.1:c.395C>A, XM_047429464.1:c.299C>G, XM_047429464.1:c.299C>A, XM_047429465.1:c.299C>G, XM_047429465.1:c.299C>A, XM_047429466.1:c.626C>G, XM_047429466.1:c.626C>A, NP_008871.3:p.Thr145Ser, NP_008871.3:p.Thr145Asn, NP_694534.1:p.Thr132Ser, NP_694534.1:p.Thr132Asn, NP_001248343.1:p.Thr132Ser, NP_001248343.1:p.Thr132Asn, NP_001248344.1:p.Thr135Ser, NP_001248344.1:p.Thr135Asn, NP_001317714.1:p.Thr110Ser, NP_001317714.1:p.Thr110Asn, XP_011519134.2:p.Thr209Ser, XP_011519134.2:p.Thr209Asn, XP_011519137.1:p.Thr132Ser, XP_011519137.1:p.Thr132Asn, XP_011519139.1:p.Thr132Ser, XP_011519139.1:p.Thr132Asn, XP_011519135.1:p.Thr135Ser, XP_011519135.1:p.Thr135Asn, XP_024304919.1:p.Thr132Ser, XP_024304919.1:p.Thr132Asn, XP_016875383.1:p.Thr132Ser, XP_016875383.1:p.Thr132Asn, XP_016875381.1:p.Thr132Ser, XP_016875381.1:p.Thr132Asn, XP_024304918.1:p.Thr132Ser, XP_024304918.1:p.Thr132Asn, XP_016875380.1:p.Thr132Ser, XP_016875380.1:p.Thr132Asn, XP_024304921.1:p.Thr132Ser, XP_024304921.1:p.Thr132Asn, XP_024304926.1:p.Thr132Ser, XP_024304926.1:p.Thr132Asn, XP_024304927.1:p.Thr132Ser, XP_024304927.1:p.Thr132Asn, XP_016875377.1:p.Thr174Ser, XP_016875377.1:p.Thr174Asn, XP_016875378.1:p.Thr174Ser, XP_016875378.1:p.Thr174Asn, XP_016875379.1:p.Thr132Ser, XP_016875379.1:p.Thr132Asn, XP_024304925.1:p.Thr132Ser, XP_024304925.1:p.Thr132Asn, XP_024304922.1:p.Thr132Ser, XP_024304922.1:p.Thr132Asn, XP_016875382.1:p.Thr132Ser, XP_016875382.1:p.Thr132Asn, XP_016875384.1:p.Thr132Ser, XP_016875384.1:p.Thr132Asn, XP_016875391.2:p.Thr209Ser, XP_016875391.2:p.Thr209Asn, XP_016875392.2:p.Thr209Ser, XP_016875392.2:p.Thr209Asn, XP_047285418.1:p.Thr132Ser, XP_047285418.1:p.Thr132Asn, XP_047285413.1:p.Thr132Ser, XP_047285413.1:p.Thr132Asn, XP_047285417.1:p.Thr132Ser, XP_047285417.1:p.Thr132Asn, XP_047285407.1:p.Thr209Ser, XP_047285407.1:p.Thr209Asn, XP_047285416.1:p.Thr132Ser, XP_047285416.1:p.Thr132Asn, XP_047285414.1:p.Thr132Ser, XP_047285414.1:p.Thr132Asn, XP_047285415.1:p.Thr132Ser, XP_047285415.1:p.Thr132Asn, XP_047285412.1:p.Thr132Ser, XP_047285412.1:p.Thr132Asn, XP_047285408.1:p.Thr169Ser, XP_047285408.1:p.Thr169Asn, XP_047285409.1:p.Thr169Ser, XP_047285409.1:p.Thr169Asn, XP_047285410.1:p.Thr134Ser, XP_047285410.1:p.Thr134Asn, XP_047285411.1:p.Thr134Ser, XP_047285411.1:p.Thr134Asn, XP_047285419.1:p.Thr132Ser, XP_047285419.1:p.Thr132Asn, XP_047285420.1:p.Thr100Ser, XP_047285420.1:p.Thr100Asn, XP_047285421.1:p.Thr100Ser, XP_047285421.1:p.Thr100Asn, XP_047285422.1:p.Thr209Ser, XP_047285422.1:p.Thr209Asn

                                16.

                                rs1453214851 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  12:23604440 (GRCh38)
                                  12:23757374 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:23604439:G:A
                                  Gene:
                                  SOX5 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000008/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000012.12:g.23604440G>A, NC_000012.11:g.23757374G>A, NG_029612.2:g.963007C>T, NM_006940.6:c.1111C>T, NM_006940.5:c.1111C>T, NM_006940.4:c.1111C>T, NM_152989.5:c.1072C>T, NM_152989.4:c.1072C>T, NM_152989.3:c.1072C>T, NM_001261414.3:c.1072C>T, NM_001261414.2:c.1072C>T, NM_001261414.1:c.1072C>T, NM_001261415.3:c.1081C>T, NM_001261415.2:c.1081C>T, NM_001261415.1:c.1081C>T, NM_001330785.2:c.1006C>T, NM_001330785.1:c.1006C>T, XM_011520832.3:c.1306C>T, XM_011520832.2:c.1114C>T, XM_011520832.1:c.1114C>T, XM_011520835.3:c.1075C>T, XM_011520835.2:c.1075C>T, XM_011520835.1:c.1075C>T, XM_011520837.3:c.1075C>T, XM_011520837.2:c.1075C>T, XM_011520837.1:c.1075C>T, XM_011520833.3:c.1084C>T, XM_011520833.2:c.1084C>T, XM_011520833.1:c.1084C>T, XM_024449151.2:c.1075C>T, XM_024449151.1:c.1075C>T, XM_017019894.2:c.1075C>T, XM_017019894.1:c.1075C>T, XM_017019892.2:c.1075C>T, XM_017019892.1:c.1075C>T, XM_024449150.2:c.1075C>T, XM_024449150.1:c.1075C>T, XM_017019891.2:c.1075C>T, XM_017019891.1:c.1075C>T, XM_024449153.2:c.1075C>T, XM_024449153.1:c.1075C>T, XM_024449158.2:c.1075C>T, XM_024449158.1:c.1075C>T, XM_024449159.2:c.1075C>T, XM_024449159.1:c.1075C>T, XM_017019888.2:c.1201C>T, XM_017019888.1:c.1201C>T, XM_017019889.2:c.1198C>T, XM_017019889.1:c.1198C>T, XM_017019890.2:c.1075C>T, XM_017019890.1:c.1075C>T, XM_024449157.2:c.1075C>T, XM_024449157.1:c.1075C>T, XM_024449154.2:c.1075C>T, XM_024449154.1:c.1075C>T, XM_017019893.2:c.1075C>T, XM_017019893.1:c.1075C>T, XM_017019895.2:c.1075C>T, XM_017019895.1:c.1075C>T, XM_017019902.2:c.1306C>T, XM_017019902.1:c.1114C>T, XM_017019903.2:c.1303C>T, XM_017019903.1:c.1111C>T, XM_047429462.1:c.1075C>T, XM_047429457.1:c.1075C>T, XM_047429461.1:c.1075C>T, XM_047429451.1:c.1303C>T, XM_047429460.1:c.1075C>T, XM_047429458.1:c.1075C>T, XM_047429459.1:c.1075C>T, XM_047429456.1:c.1075C>T, XM_047429452.1:c.1186C>T, XM_047429453.1:c.1183C>T, XM_047429454.1:c.1081C>T, XM_047429455.1:c.1078C>T, XM_047429463.1:c.1072C>T, XM_047429464.1:c.979C>T, XM_047429465.1:c.976C>T, NP_008871.3:p.Pro371Ser, NP_694534.1:p.Pro358Ser, NP_001248343.1:p.Pro358Ser, NP_001248344.1:p.Pro361Ser, NP_001317714.1:p.Pro336Ser, XP_011519134.2:p.Pro436Ser, XP_011519137.1:p.Pro359Ser, XP_011519139.1:p.Pro359Ser, XP_011519135.1:p.Pro362Ser, XP_024304919.1:p.Pro359Ser, XP_016875383.1:p.Pro359Ser, XP_016875381.1:p.Pro359Ser, XP_024304918.1:p.Pro359Ser, XP_016875380.1:p.Pro359Ser, XP_024304921.1:p.Pro359Ser, XP_024304926.1:p.Pro359Ser, XP_024304927.1:p.Pro359Ser, XP_016875377.1:p.Pro401Ser, XP_016875378.1:p.Pro400Ser, XP_016875379.1:p.Pro359Ser, XP_024304925.1:p.Pro359Ser, XP_024304922.1:p.Pro359Ser, XP_016875382.1:p.Pro359Ser, XP_016875384.1:p.Pro359Ser, XP_016875391.2:p.Pro436Ser, XP_016875392.2:p.Pro435Ser, XP_047285418.1:p.Pro359Ser, XP_047285413.1:p.Pro359Ser, XP_047285417.1:p.Pro359Ser, XP_047285407.1:p.Pro435Ser, XP_047285416.1:p.Pro359Ser, XP_047285414.1:p.Pro359Ser, XP_047285415.1:p.Pro359Ser, XP_047285412.1:p.Pro359Ser, XP_047285408.1:p.Pro396Ser, XP_047285409.1:p.Pro395Ser, XP_047285410.1:p.Pro361Ser, XP_047285411.1:p.Pro360Ser, XP_047285419.1:p.Pro358Ser, XP_047285420.1:p.Pro327Ser, XP_047285421.1:p.Pro326Ser

                                  17.

                                  rs1452258093 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    12:23604449 (GRCh38)
                                    12:23757383 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:23604448:C:A
                                    Gene:
                                    SOX5 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000012.12:g.23604449C>A, NC_000012.11:g.23757383C>A, NG_029612.2:g.962998G>T, NM_006940.6:c.1102G>T, NM_006940.5:c.1102G>T, NM_006940.4:c.1102G>T, NM_152989.5:c.1063G>T, NM_152989.4:c.1063G>T, NM_152989.3:c.1063G>T, NM_001261414.3:c.1063G>T, NM_001261414.2:c.1063G>T, NM_001261414.1:c.1063G>T, NM_001261415.3:c.1072G>T, NM_001261415.2:c.1072G>T, NM_001261415.1:c.1072G>T, NM_001330785.2:c.997G>T, NM_001330785.1:c.997G>T, XM_011520832.3:c.1297G>T, XM_011520832.2:c.1105G>T, XM_011520832.1:c.1105G>T, XM_011520835.3:c.1066G>T, XM_011520835.2:c.1066G>T, XM_011520835.1:c.1066G>T, XM_011520837.3:c.1066G>T, XM_011520837.2:c.1066G>T, XM_011520837.1:c.1066G>T, XM_011520833.3:c.1075G>T, XM_011520833.2:c.1075G>T, XM_011520833.1:c.1075G>T, XM_024449151.2:c.1066G>T, XM_024449151.1:c.1066G>T, XM_017019894.2:c.1066G>T, XM_017019894.1:c.1066G>T, XM_017019892.2:c.1066G>T, XM_017019892.1:c.1066G>T, XM_024449150.2:c.1066G>T, XM_024449150.1:c.1066G>T, XM_017019891.2:c.1066G>T, XM_017019891.1:c.1066G>T, XM_024449153.2:c.1066G>T, XM_024449153.1:c.1066G>T, XM_024449158.2:c.1066G>T, XM_024449158.1:c.1066G>T, XM_024449159.2:c.1066G>T, XM_024449159.1:c.1066G>T, XM_017019888.2:c.1192G>T, XM_017019888.1:c.1192G>T, XM_017019889.2:c.1189G>T, XM_017019889.1:c.1189G>T, XM_017019890.2:c.1066G>T, XM_017019890.1:c.1066G>T, XM_024449157.2:c.1066G>T, XM_024449157.1:c.1066G>T, XM_024449154.2:c.1066G>T, XM_024449154.1:c.1066G>T, XM_017019893.2:c.1066G>T, XM_017019893.1:c.1066G>T, XM_017019895.2:c.1066G>T, XM_017019895.1:c.1066G>T, XM_017019902.2:c.1297G>T, XM_017019902.1:c.1105G>T, XM_017019903.2:c.1294G>T, XM_017019903.1:c.1102G>T, XM_047429462.1:c.1066G>T, XM_047429457.1:c.1066G>T, XM_047429461.1:c.1066G>T, XM_047429451.1:c.1294G>T, XM_047429460.1:c.1066G>T, XM_047429458.1:c.1066G>T, XM_047429459.1:c.1066G>T, XM_047429456.1:c.1066G>T, XM_047429452.1:c.1177G>T, XM_047429453.1:c.1174G>T, XM_047429454.1:c.1072G>T, XM_047429455.1:c.1069G>T, XM_047429463.1:c.1063G>T, XM_047429464.1:c.970G>T, XM_047429465.1:c.967G>T, NP_008871.3:p.Ala368Ser, NP_694534.1:p.Ala355Ser, NP_001248343.1:p.Ala355Ser, NP_001248344.1:p.Ala358Ser, NP_001317714.1:p.Ala333Ser, XP_011519134.2:p.Ala433Ser, XP_011519137.1:p.Ala356Ser, XP_011519139.1:p.Ala356Ser, XP_011519135.1:p.Ala359Ser, XP_024304919.1:p.Ala356Ser, XP_016875383.1:p.Ala356Ser, XP_016875381.1:p.Ala356Ser, XP_024304918.1:p.Ala356Ser, XP_016875380.1:p.Ala356Ser, XP_024304921.1:p.Ala356Ser, XP_024304926.1:p.Ala356Ser, XP_024304927.1:p.Ala356Ser, XP_016875377.1:p.Ala398Ser, XP_016875378.1:p.Ala397Ser, XP_016875379.1:p.Ala356Ser, XP_024304925.1:p.Ala356Ser, XP_024304922.1:p.Ala356Ser, XP_016875382.1:p.Ala356Ser, XP_016875384.1:p.Ala356Ser, XP_016875391.2:p.Ala433Ser, XP_016875392.2:p.Ala432Ser, XP_047285418.1:p.Ala356Ser, XP_047285413.1:p.Ala356Ser, XP_047285417.1:p.Ala356Ser, XP_047285407.1:p.Ala432Ser, XP_047285416.1:p.Ala356Ser, XP_047285414.1:p.Ala356Ser, XP_047285415.1:p.Ala356Ser, XP_047285412.1:p.Ala356Ser, XP_047285408.1:p.Ala393Ser, XP_047285409.1:p.Ala392Ser, XP_047285410.1:p.Ala358Ser, XP_047285411.1:p.Ala357Ser, XP_047285419.1:p.Ala355Ser, XP_047285420.1:p.Ala324Ser, XP_047285421.1:p.Ala323Ser

                                    18.

                                    rs1444027846 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      12:23536509 (GRCh38)
                                      12:23689443 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:23536508:T:C
                                      Gene:
                                      SOX5 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000012.12:g.23536509T>C, NC_000012.11:g.23689443T>C, NG_029612.2:g.1030938A>G, NM_006940.6:c.1932A>G, NM_006940.5:c.1932A>G, NM_006940.4:c.1932A>G, NM_152989.5:c.1893A>G, NM_152989.4:c.1893A>G, NM_152989.3:c.1893A>G, NM_178010.4:c.774A>G, NM_178010.3:c.774A>G, NM_178010.2:c.774A>G, NM_001261414.3:c.1569A>G, NM_001261414.2:c.1569A>G, NM_001261414.1:c.1569A>G, NM_001261415.3:c.1902A>G, NM_001261415.2:c.1902A>G, NM_001261415.1:c.1902A>G, NM_001330785.2:c.1827A>G, NM_001330785.1:c.1827A>G, XM_011520832.3:c.2127A>G, XM_011520832.2:c.1935A>G, XM_011520832.1:c.1935A>G, XM_011520835.3:c.1896A>G, XM_011520835.2:c.1896A>G, XM_011520835.1:c.1896A>G, XM_011520837.3:c.1896A>G, XM_011520837.2:c.1896A>G, XM_011520837.1:c.1896A>G, XM_011520833.3:c.1905A>G, XM_011520833.2:c.1905A>G, XM_011520833.1:c.1905A>G, XM_024449151.2:c.1896A>G, XM_024449151.1:c.1896A>G, XM_017019894.2:c.1896A>G, XM_017019894.1:c.1896A>G, XM_017019892.2:c.1896A>G, XM_017019892.1:c.1896A>G, XM_024449150.2:c.1896A>G, XM_024449150.1:c.1896A>G, XM_017019891.2:c.1896A>G, XM_017019891.1:c.1896A>G, XM_024449153.2:c.1896A>G, XM_024449153.1:c.1896A>G, XM_024449158.2:c.1896A>G, XM_024449158.1:c.1896A>G, XM_024449159.2:c.1896A>G, XM_024449159.1:c.1896A>G, XM_017019888.2:c.2022A>G, XM_017019888.1:c.2022A>G, XM_017019889.2:c.2019A>G, XM_017019889.1:c.2019A>G, XM_017019890.2:c.1896A>G, XM_017019890.1:c.1896A>G, XM_024449157.2:c.1896A>G, XM_024449157.1:c.1896A>G, XM_024449154.2:c.1896A>G, XM_024449154.1:c.1896A>G, XM_017019893.2:c.1896A>G, XM_017019893.1:c.1896A>G, XM_017019895.2:c.1896A>G, XM_017019895.1:c.1896A>G, XM_047429462.1:c.1896A>G, XM_047429457.1:c.1896A>G, XM_047429461.1:c.1896A>G, XM_047429451.1:c.2124A>G, XM_047429460.1:c.1896A>G, XM_047429458.1:c.1896A>G, XM_047429459.1:c.1896A>G, XM_047429456.1:c.1896A>G, XM_047429452.1:c.2007A>G, XM_047429453.1:c.2004A>G, XM_047429454.1:c.1902A>G, XM_047429455.1:c.1899A>G, XM_047429463.1:c.1893A>G, XM_047429464.1:c.1800A>G, XM_047429465.1:c.1797A>G

                                      19.

                                      rs1439671237 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        12:23755678 (GRCh38)
                                        12:23908612 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:23755677:C:T
                                        Gene:
                                        SOX5 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                        HGVS:
                                        NC_000012.12:g.23755678C>T, NC_000012.11:g.23908612C>T, NG_029612.2:g.811769G>A, NM_006940.6:c.528G>A, NM_006940.5:c.528G>A, NM_006940.4:c.528G>A, NM_152989.5:c.489G>A, NM_152989.4:c.489G>A, NM_152989.3:c.489G>A, NM_001261414.3:c.489G>A, NM_001261414.2:c.489G>A, NM_001261414.1:c.489G>A, NM_001261415.3:c.498G>A, NM_001261415.2:c.498G>A, NM_001261415.1:c.498G>A, NM_001330785.2:c.423G>A, NM_001330785.1:c.423G>A, XM_011520832.3:c.720G>A, XM_011520832.2:c.528G>A, XM_011520832.1:c.528G>A, XM_011520835.3:c.489G>A, XM_011520835.2:c.489G>A, XM_011520835.1:c.489G>A, XM_011520837.3:c.489G>A, XM_011520837.2:c.489G>A, XM_011520837.1:c.489G>A, XM_011520833.3:c.498G>A, XM_011520833.2:c.498G>A, XM_011520833.1:c.498G>A, XM_024449151.2:c.489G>A, XM_024449151.1:c.489G>A, XM_017019894.2:c.489G>A, XM_017019894.1:c.489G>A, XM_017019892.2:c.489G>A, XM_017019892.1:c.489G>A, XM_024449150.2:c.489G>A, XM_024449150.1:c.489G>A, XM_017019891.2:c.489G>A, XM_017019891.1:c.489G>A, XM_024449153.2:c.489G>A, XM_024449153.1:c.489G>A, XM_024449158.2:c.489G>A, XM_024449158.1:c.489G>A, XM_024449159.2:c.489G>A, XM_024449159.1:c.489G>A, XM_017019888.2:c.615G>A, XM_017019888.1:c.615G>A, XM_017019889.2:c.615G>A, XM_017019889.1:c.615G>A, XM_017019890.2:c.489G>A, XM_017019890.1:c.489G>A, XM_024449157.2:c.489G>A, XM_024449157.1:c.489G>A, XM_024449154.2:c.489G>A, XM_024449154.1:c.489G>A, XM_017019893.2:c.489G>A, XM_017019893.1:c.489G>A, XM_017019895.2:c.489G>A, XM_017019895.1:c.489G>A, XM_017019902.2:c.720G>A, XM_017019902.1:c.528G>A, XM_017019903.2:c.720G>A, XM_017019903.1:c.528G>A, XM_047429462.1:c.489G>A, XM_047429457.1:c.489G>A, XM_047429461.1:c.489G>A, XM_047429451.1:c.720G>A, XM_047429460.1:c.489G>A, XM_047429458.1:c.489G>A, XM_047429459.1:c.489G>A, XM_047429456.1:c.489G>A, XM_047429452.1:c.600G>A, XM_047429453.1:c.600G>A, XM_047429454.1:c.495G>A, XM_047429455.1:c.495G>A, XM_047429463.1:c.489G>A, XM_047429464.1:c.393G>A, XM_047429465.1:c.393G>A, XM_047429466.1:c.720G>A

                                        20.

                                        rs1437315095 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          12:23604400 (GRCh38)
                                          12:23757334 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:23604399:G:A
                                          Gene:
                                          SOX5 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000012.12:g.23604400G>A, NC_000012.11:g.23757334G>A, NG_029612.2:g.963047C>T, NM_006940.6:c.1151C>T, NM_006940.5:c.1151C>T, NM_006940.4:c.1151C>T, NM_152989.5:c.1112C>T, NM_152989.4:c.1112C>T, NM_152989.3:c.1112C>T, NM_001261414.3:c.1112C>T, NM_001261414.2:c.1112C>T, NM_001261414.1:c.1112C>T, NM_001261415.3:c.1121C>T, NM_001261415.2:c.1121C>T, NM_001261415.1:c.1121C>T, NM_001330785.2:c.1046C>T, NM_001330785.1:c.1046C>T, XM_011520832.3:c.1346C>T, XM_011520832.2:c.1154C>T, XM_011520832.1:c.1154C>T, XM_011520835.3:c.1115C>T, XM_011520835.2:c.1115C>T, XM_011520835.1:c.1115C>T, XM_011520837.3:c.1115C>T, XM_011520837.2:c.1115C>T, XM_011520837.1:c.1115C>T, XM_011520833.3:c.1124C>T, XM_011520833.2:c.1124C>T, XM_011520833.1:c.1124C>T, XM_024449151.2:c.1115C>T, XM_024449151.1:c.1115C>T, XM_017019894.2:c.1115C>T, XM_017019894.1:c.1115C>T, XM_017019892.2:c.1115C>T, XM_017019892.1:c.1115C>T, XM_024449150.2:c.1115C>T, XM_024449150.1:c.1115C>T, XM_017019891.2:c.1115C>T, XM_017019891.1:c.1115C>T, XM_024449153.2:c.1115C>T, XM_024449153.1:c.1115C>T, XM_024449158.2:c.1115C>T, XM_024449158.1:c.1115C>T, XM_024449159.2:c.1115C>T, XM_024449159.1:c.1115C>T, XM_017019888.2:c.1241C>T, XM_017019888.1:c.1241C>T, XM_017019889.2:c.1238C>T, XM_017019889.1:c.1238C>T, XM_017019890.2:c.1115C>T, XM_017019890.1:c.1115C>T, XM_024449157.2:c.1115C>T, XM_024449157.1:c.1115C>T, XM_024449154.2:c.1115C>T, XM_024449154.1:c.1115C>T, XM_017019893.2:c.1115C>T, XM_017019893.1:c.1115C>T, XM_017019895.2:c.1115C>T, XM_017019895.1:c.1115C>T, XM_017019902.2:c.1346C>T, XM_017019902.1:c.1154C>T, XM_017019903.2:c.1343C>T, XM_017019903.1:c.1151C>T, XM_047429462.1:c.1115C>T, XM_047429457.1:c.1115C>T, XM_047429461.1:c.1115C>T, XM_047429451.1:c.1343C>T, XM_047429460.1:c.1115C>T, XM_047429458.1:c.1115C>T, XM_047429459.1:c.1115C>T, XM_047429456.1:c.1115C>T, XM_047429452.1:c.1226C>T, XM_047429453.1:c.1223C>T, XM_047429454.1:c.1121C>T, XM_047429455.1:c.1118C>T, XM_047429463.1:c.1112C>T, XM_047429464.1:c.1019C>T, XM_047429465.1:c.1016C>T, NP_008871.3:p.Pro384Leu, NP_694534.1:p.Pro371Leu, NP_001248343.1:p.Pro371Leu, NP_001248344.1:p.Pro374Leu, NP_001317714.1:p.Pro349Leu, XP_011519134.2:p.Pro449Leu, XP_011519137.1:p.Pro372Leu, XP_011519139.1:p.Pro372Leu, XP_011519135.1:p.Pro375Leu, XP_024304919.1:p.Pro372Leu, XP_016875383.1:p.Pro372Leu, XP_016875381.1:p.Pro372Leu, XP_024304918.1:p.Pro372Leu, XP_016875380.1:p.Pro372Leu, XP_024304921.1:p.Pro372Leu, XP_024304926.1:p.Pro372Leu, XP_024304927.1:p.Pro372Leu, XP_016875377.1:p.Pro414Leu, XP_016875378.1:p.Pro413Leu, XP_016875379.1:p.Pro372Leu, XP_024304925.1:p.Pro372Leu, XP_024304922.1:p.Pro372Leu, XP_016875382.1:p.Pro372Leu, XP_016875384.1:p.Pro372Leu, XP_016875391.2:p.Pro449Leu, XP_016875392.2:p.Pro448Leu, XP_047285418.1:p.Pro372Leu, XP_047285413.1:p.Pro372Leu, XP_047285417.1:p.Pro372Leu, XP_047285407.1:p.Pro448Leu, XP_047285416.1:p.Pro372Leu, XP_047285414.1:p.Pro372Leu, XP_047285415.1:p.Pro372Leu, XP_047285412.1:p.Pro372Leu, XP_047285408.1:p.Pro409Leu, XP_047285409.1:p.Pro408Leu, XP_047285410.1:p.Pro374Leu, XP_047285411.1:p.Pro373Leu, XP_047285419.1:p.Pro371Leu, XP_047285420.1:p.Pro340Leu, XP_047285421.1:p.Pro339Leu

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