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1.

rs1490575082 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    5:103019808 (GRCh38)
    5:102355512 (GRCh37)
    Canonical SPDI:
    NC_000005.10:103019807:T:C
    Gene:
    PAM (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
    HGVS:
    NC_000005.10:g.103019808T>C, NC_000005.9:g.102355512T>C, NG_029444.2:g.270026T>C, NM_000919.4:c.2450T>C, NM_000919.3:c.2450T>C, NM_001364583.2:c.2450T>C, NM_001364583.1:c.2450T>C, NM_001364584.2:c.2450T>C, NM_001364584.1:c.2450T>C, NM_001364582.2:c.2450T>C, NM_001364582.1:c.2450T>C, NM_001364590.2:c.2222T>C, NM_001364590.1:c.2222T>C, NM_001364585.2:c.2450T>C, NM_001364585.1:c.2450T>C, NM_138766.2:c.2450T>C, NM_138822.2:c.2450T>C, NM_001364586.2:c.2129T>C, NM_001364586.1:c.2129T>C, NM_001364587.2:c.2129T>C, NM_001364587.1:c.2129T>C, NM_001364588.2:c.2129T>C, NM_001364588.1:c.2129T>C, NM_138821.2:c.2129T>C, NM_001364589.2:c.2129T>C, NM_001364589.1:c.2129T>C, NM_001364591.2:c.2183T>C, NM_001364591.1:c.2183T>C, NM_001364592.2:c.2183T>C, NM_001364592.1:c.2183T>C, NM_001364593.2:c.2129T>C, NM_001364593.1:c.2129T>C, NM_001364594.2:c.2129T>C, NM_001364594.1:c.2129T>C, NM_001177306.2:c.2450T>C, NM_001177306.1:c.2450T>C, NM_001319943.1:c.2504T>C, NR_033440.1:n.2765T>C, XM_011543419.4:c.2504T>C, XM_011543419.3:c.2504T>C, XM_011543419.2:c.2504T>C, XM_011543419.1:c.2504T>C, XM_017009495.3:c.2504T>C, XM_017009495.2:c.2504T>C, XM_017009495.1:c.2504T>C, XM_017009496.3:c.2504T>C, XM_017009496.2:c.2504T>C, XM_017009496.1:c.2504T>C, XM_017009502.3:c.2504T>C, XM_017009502.2:c.2504T>C, XM_017009502.1:c.2504T>C, XM_017009511.3:c.2404T>C, XM_017009511.2:c.2404T>C, XM_017009511.1:c.2404T>C, XM_017009497.3:c.2450T>C, XM_017009497.2:c.2450T>C, XM_017009497.1:c.2450T>C, XM_017009505.3:c.2450T>C, XM_017009505.2:c.2450T>C, XM_017009505.1:c.2450T>C, XM_017009507.3:c.2129T>C, XM_017009507.2:c.2129T>C, XM_017009507.1:c.2129T>C, XM_024446066.2:c.2504T>C, XM_024446066.1:c.2504T>C, XM_024446069.2:c.2504T>C, XM_024446069.1:c.2504T>C, XM_024446070.2:c.2450T>C, XM_024446070.1:c.2450T>C, XM_024446072.2:c.2504T>C, XM_024446072.1:c.2504T>C, XM_024446075.2:c.2504T>C, XM_024446075.1:c.2504T>C, XM_024446074.2:c.2450T>C, XM_024446074.1:c.2450T>C, XM_024446080.2:c.2404T>C, XM_024446080.1:c.2404T>C, XM_024446076.2:c.2450T>C, XM_024446076.1:c.2450T>C, XM_024446081.2:c.2404T>C, XM_024446081.1:c.2404T>C, XM_024446078.2:c.2129T>C, XM_024446078.1:c.2129T>C, XM_024446084.2:c.2129T>C, XM_024446084.1:c.2129T>C, XM_024446085.2:c.2276T>C, XM_024446085.1:c.2276T>C, XM_047417241.1:c.2504T>C, XM_047417242.1:c.2450T>C, XM_047417249.1:c.2350T>C, XM_047417250.1:c.2350T>C, XM_047417251.1:c.2350T>C, XM_047417245.1:c.2129T>C, XM_047417240.1:c.2450T>C, XM_047417254.1:c.2029T>C, XM_047417255.1:c.2029T>C, XM_047417256.1:c.2029T>C, XM_047417243.1:c.2450T>C, XM_047417244.1:c.2129T>C, XM_047417248.1:c.2222T>C, XM_047417252.1:c.1901T>C, XM_047417246.1:c.2404T>C, XM_047417247.1:c.2404T>C, XM_047417253.1:c.2029T>C, NP_000910.2:p.Val817Ala, NP_001351512.1:p.Val817Ala, NP_001351513.1:p.Val817Ala, NP_001351511.1:p.Val817Ala, NP_001351519.1:p.Val741Ala, NP_001351514.1:p.Val817Ala, NP_620121.1:p.Val817Ala, NP_620177.1:p.Val817Ala, NP_001351515.1:p.Val710Ala, NP_001351516.1:p.Val710Ala, NP_001351517.1:p.Val710Ala, NP_620176.1:p.Val710Ala, NP_001351518.1:p.Val710Ala, NP_001351520.1:p.Val728Ala, NP_001351521.1:p.Val728Ala, NP_001351522.1:p.Val710Ala, NP_001351523.1:p.Val710Ala, NP_001170777.1:p.Val817Ala, NP_001306872.1:p.Val835Ala, XP_011541721.1:p.Val835Ala, XP_016864984.1:p.Val835Ala, XP_016864985.1:p.Val835Ala, XP_016864991.1:p.Val835Ala, XP_016864986.1:p.Val817Ala, XP_016864994.1:p.Val817Ala, XP_016864996.1:p.Val710Ala, XP_024301834.1:p.Val835Ala, XP_024301837.1:p.Val835Ala, XP_024301838.1:p.Val817Ala, XP_024301840.1:p.Val835Ala, XP_024301843.1:p.Val835Ala, XP_024301842.1:p.Val817Ala, XP_024301844.1:p.Val817Ala, XP_024301846.1:p.Val710Ala, XP_024301852.1:p.Val710Ala, XP_024301853.1:p.Val759Ala, XP_047273197.1:p.Val835Ala, XP_047273198.1:p.Val817Ala, XP_047273201.1:p.Val710Ala, XP_047273196.1:p.Val817Ala, XP_047273199.1:p.Val817Ala, XP_047273200.1:p.Val710Ala, XP_047273204.1:p.Val741Ala, XP_047273208.1:p.Val634Ala

    2.

    rs1490462273 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      G>- [Show Flanks]
      Chromosome:
      5:102990327 (GRCh38)
      5:102326031 (GRCh37)
      Canonical SPDI:
      NC_000005.10:102990326:GG:G
      Gene:
      PAM (Varview)
      Functional Consequence:
      frameshift_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      GG=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:
      NC_000005.10:g.102990328del, NC_000005.9:g.102326032del, NG_029444.2:g.240546del, NM_000919.4:c.1540del, NM_000919.3:c.1540del, NM_001364583.2:c.1540del, NM_001364583.1:c.1540del, NM_001364584.2:c.1540del, NM_001364584.1:c.1540del, NM_001364582.2:c.1540del, NM_001364582.1:c.1540del, NM_001364590.2:c.1312del, NM_001364590.1:c.1312del, NM_001364585.2:c.1540del, NM_001364585.1:c.1540del, NM_138766.2:c.1540del, NM_138822.2:c.1540del, NM_001364586.2:c.1219del, NM_001364586.1:c.1219del, NM_001364587.2:c.1219del, NM_001364587.1:c.1219del, NM_001364588.2:c.1219del, NM_001364588.1:c.1219del, NM_138821.2:c.1219del, NM_001364589.2:c.1219del, NM_001364589.1:c.1219del, NM_001364591.2:c.1273del, NM_001364591.1:c.1273del, NM_001364592.2:c.1273del, NM_001364592.1:c.1273del, NM_001364593.2:c.1219del, NM_001364593.1:c.1219del, NM_001364594.2:c.1219del, NM_001364594.1:c.1219del, NM_001177306.2:c.1540del, NM_001177306.1:c.1540del, NM_001319943.1:c.1594del, NR_033440.1:n.1855del, XM_011543419.4:c.1594del, XM_011543419.3:c.1594del, XM_011543419.2:c.1594del, XM_011543419.1:c.1594del, XM_017009495.3:c.1594del, XM_017009495.2:c.1594del, XM_017009495.1:c.1594del, XM_017009496.3:c.1594del, XM_017009496.2:c.1594del, XM_017009496.1:c.1594del, XM_017009502.3:c.1594del, XM_017009502.2:c.1594del, XM_017009502.1:c.1594del, XM_017009511.3:c.1594del, XM_017009511.2:c.1594del, XM_017009511.1:c.1594del, XM_017009497.3:c.1540del, XM_017009497.2:c.1540del, XM_017009497.1:c.1540del, XM_017009505.3:c.1540del, XM_017009505.2:c.1540del, XM_017009505.1:c.1540del, XM_017009507.3:c.1219del, XM_017009507.2:c.1219del, XM_017009507.1:c.1219del, XM_024446066.2:c.1594del, XM_024446066.1:c.1594del, XM_024446069.2:c.1594del, XM_024446069.1:c.1594del, XM_024446070.2:c.1540del, XM_024446070.1:c.1540del, XM_024446072.2:c.1594del, XM_024446072.1:c.1594del, XM_024446075.2:c.1594del, XM_024446075.1:c.1594del, XM_024446074.2:c.1540del, XM_024446074.1:c.1540del, XM_024446080.2:c.1594del, XM_024446080.1:c.1594del, XM_024446076.2:c.1540del, XM_024446076.1:c.1540del, XM_024446081.2:c.1594del, XM_024446081.1:c.1594del, XM_024446078.2:c.1219del, XM_024446078.1:c.1219del, XM_024446084.2:c.1219del, XM_024446084.1:c.1219del, XM_024446085.2:c.1366del, XM_024446085.1:c.1366del, XM_047417241.1:c.1594del, XM_047417242.1:c.1540del, XM_047417249.1:c.1540del, XM_047417250.1:c.1540del, XM_047417251.1:c.1540del, XM_047417245.1:c.1219del, XM_047417240.1:c.1540del, XM_047417254.1:c.1219del, XM_047417255.1:c.1219del, XM_047417256.1:c.1219del, XM_047417243.1:c.1540del, XM_047417244.1:c.1219del, XM_047417248.1:c.1312del, XM_047417252.1:c.991del, XM_047417246.1:c.1594del, XM_047417247.1:c.1594del, XM_047417253.1:c.1219del, NP_000910.2:p.Val514fs, NP_001351512.1:p.Val514fs, NP_001351513.1:p.Val514fs, NP_001351511.1:p.Val514fs, NP_001351519.1:p.Val438fs, NP_001351514.1:p.Val514fs, NP_620121.1:p.Val514fs, NP_620177.1:p.Val514fs, NP_001351515.1:p.Val407fs, NP_001351516.1:p.Val407fs, NP_001351517.1:p.Val407fs, NP_620176.1:p.Val407fs, NP_001351518.1:p.Val407fs, NP_001351520.1:p.Val425fs, NP_001351521.1:p.Val425fs, NP_001351522.1:p.Val407fs, NP_001351523.1:p.Val407fs, NP_001170777.1:p.Val514fs, NP_001306872.1:p.Val532fs, XP_011541721.1:p.Val532fs, XP_016864984.1:p.Val532fs, XP_016864985.1:p.Val532fs, XP_016864991.1:p.Val532fs, XP_016865000.1:p.Val532fs, XP_016864986.1:p.Val514fs, XP_016864994.1:p.Val514fs, XP_016864996.1:p.Val407fs, XP_024301834.1:p.Val532fs, XP_024301837.1:p.Val532fs, XP_024301838.1:p.Val514fs, XP_024301840.1:p.Val532fs, XP_024301843.1:p.Val532fs, XP_024301842.1:p.Val514fs, XP_024301848.1:p.Val532fs, XP_024301844.1:p.Val514fs, XP_024301849.1:p.Val532fs, XP_024301846.1:p.Val407fs, XP_024301852.1:p.Val407fs, XP_024301853.1:p.Val456fs, XP_047273197.1:p.Val532fs, XP_047273198.1:p.Val514fs, XP_047273205.1:p.Val514fs, XP_047273206.1:p.Val514fs, XP_047273207.1:p.Val514fs, XP_047273201.1:p.Val407fs, XP_047273196.1:p.Val514fs, XP_047273210.1:p.Val407fs, XP_047273211.1:p.Val407fs, XP_047273212.1:p.Val407fs, XP_047273199.1:p.Val514fs, XP_047273200.1:p.Val407fs, XP_047273204.1:p.Val438fs, XP_047273208.1:p.Val331fs, XP_047273202.1:p.Val532fs, XP_047273203.1:p.Val532fs, XP_047273209.1:p.Val407fs

      3.

      rs1490248253 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        5:102866194 (GRCh38)
        5:102201898 (GRCh37)
        Canonical SPDI:
        NC_000005.10:102866193:A:G
        Gene:
        PAM (Varview)
        Functional Consequence:
        5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by cluster
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000005.10:g.102866194A>G, NC_000005.9:g.102201898A>G, NG_029444.2:g.116412A>G, NM_000919.4:c.-2A>G, NM_000919.3:c.-2A>G, NM_001364583.2:c.-2A>G, NM_001364583.1:c.-2A>G, NM_001364584.2:c.-2A>G, NM_001364584.1:c.-2A>G, NM_001364582.2:c.-2A>G, NM_001364582.1:c.-2A>G, NM_001364590.2:c.-297A>G, NM_001364590.1:c.-297A>G, NM_001364585.2:c.-2A>G, NM_001364585.1:c.-2A>G, NM_138766.2:c.-2A>G, NM_138822.2:c.-2A>G, NM_001364586.2:c.-2A>G, NM_001364586.1:c.-2A>G, NM_001364587.2:c.-2A>G, NM_001364587.1:c.-2A>G, NM_001364588.2:c.-2A>G, NM_001364588.1:c.-2A>G, NM_138821.2:c.-2A>G, NM_001364589.2:c.-2A>G, NM_001364589.1:c.-2A>G, NM_001364591.2:c.-2A>G, NM_001364591.1:c.-2A>G, NM_001364592.2:c.-2A>G, NM_001364592.1:c.-2A>G, NM_001364593.2:c.-2A>G, NM_001364593.1:c.-2A>G, NM_001364594.2:c.-2A>G, NM_001364594.1:c.-2A>G, NM_001177306.2:c.-2A>G, NM_001177306.1:c.-2A>G, NM_001319943.1:c.-2A>G, NR_033440.1:n.372A>G, NR_157231.1:n.416A>G, XM_011543419.4:c.-2A>G, XM_011543419.3:c.-2A>G, XM_011543419.2:c.-2A>G, XM_011543419.1:c.-2A>G, XM_017009495.3:c.-2A>G, XM_017009495.2:c.-2A>G, XM_017009495.1:c.-2A>G, XM_017009496.3:c.-2A>G, XM_017009496.2:c.-2A>G, XM_017009496.1:c.-2A>G, XM_017009502.3:c.-2A>G, XM_017009502.2:c.-2A>G, XM_017009502.1:c.-2A>G, XM_017009511.3:c.-2A>G, XM_017009511.2:c.-2A>G, XM_017009511.1:c.-2A>G, XM_017009497.3:c.-2A>G, XM_017009497.2:c.-2A>G, XM_017009497.1:c.-2A>G, XM_017009505.3:c.-2A>G, XM_017009505.2:c.-2A>G, XM_017009505.1:c.-2A>G, XM_017009507.3:c.-2A>G, XM_017009507.2:c.-2A>G, XM_017009507.1:c.-2A>G, XM_024446066.2:c.-2A>G, XM_024446066.1:c.-2A>G, XM_024446069.2:c.-2A>G, XM_024446069.1:c.-2A>G, XM_024446070.2:c.-2A>G, XM_024446070.1:c.-2A>G, XM_024446072.2:c.-2A>G, XM_024446072.1:c.-2A>G, XM_024446075.2:c.-2A>G, XM_024446075.1:c.-2A>G, XM_024446074.2:c.-2A>G, XM_024446074.1:c.-2A>G, XM_024446080.2:c.-2A>G, XM_024446080.1:c.-2A>G, XM_024446076.2:c.-2A>G, XM_024446076.1:c.-2A>G, XM_024446081.2:c.-2A>G, XM_024446081.1:c.-2A>G, XM_024446078.2:c.-2A>G, XM_024446078.1:c.-2A>G, XM_024446084.2:c.-2A>G, XM_024446084.1:c.-2A>G, XM_047417241.1:c.-2A>G, XM_047417242.1:c.-2A>G, XM_047417249.1:c.-2A>G, XM_047417250.1:c.-2A>G, XM_047417251.1:c.-2A>G, XM_047417245.1:c.-2A>G, XM_047417240.1:c.-2A>G, XM_047417254.1:c.-2A>G, XM_047417255.1:c.-2A>G, XM_047417256.1:c.-2A>G, XM_047417243.1:c.-2A>G, XM_047417244.1:c.-2A>G, XM_047417246.1:c.-2A>G, XM_047417247.1:c.-2A>G, XM_047417253.1:c.-2A>G

        4.

        rs1489022638 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GT>- [Show Flanks]
          Chromosome:
          5:103029436 (GRCh38)
          5:102365140 (GRCh37)
          Canonical SPDI:
          NC_000005.10:103029433:GTGT:GT
          Gene:
          PAM (Varview)
          Functional Consequence:
          3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GTGT=0.000142/2 (ALFA)
          -=0.000064/9 (GnomAD)
          -=0.000068/18 (TOPMED)
          HGVS:
          NC_000005.10:g.103029434GT[1], NC_000005.9:g.102365138GT[1], NG_029444.2:g.279652GT[1], NM_000919.4:c.*369GT[1], NM_000919.3:c.*369GT[1], NM_001364583.2:c.*369GT[1], NM_001364583.1:c.*369GT[1], NM_001364584.2:c.*369GT[1], NM_001364584.1:c.*369GT[1], NM_001364582.2:c.*369GT[1], NM_001364582.1:c.*369GT[1], NM_001364590.2:c.*369GT[1], NM_001364590.1:c.*369GT[1], NM_001364585.2:c.*369GT[1], NM_001364585.1:c.*369GT[1], NM_138766.2:c.*369GT[1], NM_138822.2:c.*369GT[1], NM_001364586.2:c.*369GT[1], NM_001364586.1:c.*369GT[1], NM_001364587.2:c.*369GT[1], NM_001364587.1:c.*369GT[1], NM_001364588.2:c.*369GT[1], NM_001364588.1:c.*369GT[1], NM_138821.2:c.*369GT[1], NM_001364589.2:c.*369GT[1], NM_001364589.1:c.*369GT[1], NM_001364591.2:c.*369GT[1], NM_001364591.1:c.*369GT[1], NM_001364592.2:c.*369GT[1], NM_001364592.1:c.*369GT[1], NM_001364593.2:c.*369GT[1], NM_001364593.1:c.*369GT[1], NM_001364594.2:c.*369GT[1], NM_001364594.1:c.*369GT[1], NM_001177306.2:c.*369GT[1], NM_001177306.1:c.*369GT[1], NM_001319943.1:c.*369GT[1], NR_033440.1:n.3603GT[1], XM_011543419.4:c.*369GT[1], XM_011543419.3:c.*369GT[1], XM_011543419.2:c.*369GT[1], XM_011543419.1:c.*369GT[1], XM_017009495.3:c.*369GT[1], XM_017009495.2:c.*369GT[1], XM_017009495.1:c.*369GT[1], XM_017009496.3:c.*369GT[1], XM_017009496.2:c.*369GT[1], XM_017009496.1:c.*369GT[1], XM_017009502.3:c.*369GT[1], XM_017009502.2:c.*369GT[1], XM_017009502.1:c.*369GT[1], XM_017009511.3:c.*527GT[1], XM_017009511.2:c.*527GT[1], XM_017009511.1:c.*527GT[1], XM_017009497.3:c.*369GT[1], XM_017009497.2:c.*369GT[1], XM_017009497.1:c.*369GT[1], XM_017009505.3:c.*369GT[1], XM_017009505.2:c.*369GT[1], XM_017009505.1:c.*369GT[1], XM_017009507.3:c.*369GT[1], XM_017009507.2:c.*369GT[1], XM_017009507.1:c.*369GT[1], XM_024446066.2:c.*369GT[1], XM_024446066.1:c.*369GT[1], XM_024446069.2:c.*369GT[1], XM_024446069.1:c.*369GT[1], XM_024446070.2:c.*369GT[1], XM_024446070.1:c.*369GT[1], XM_024446072.2:c.*369GT[1], XM_024446072.1:c.*369GT[1], XM_024446075.2:c.*369GT[1], XM_024446075.1:c.*369GT[1], XM_024446074.2:c.*369GT[1], XM_024446074.1:c.*369GT[1], XM_024446080.2:c.*527GT[1], XM_024446080.1:c.*527GT[1], XM_024446076.2:c.*369GT[1], XM_024446076.1:c.*369GT[1], XM_024446081.2:c.*527GT[1], XM_024446081.1:c.*527GT[1], XM_024446078.2:c.*369GT[1], XM_024446078.1:c.*369GT[1], XM_024446084.2:c.*369GT[1], XM_024446084.1:c.*369GT[1], XM_024446085.2:c.*369GT[1], XM_024446085.1:c.*369GT[1], XM_047417241.1:c.*369GT[1], XM_047417242.1:c.*369GT[1], XM_047417249.1:c.*527GT[1], XM_047417250.1:c.*527GT[1], XM_047417251.1:c.*527GT[1], XM_047417245.1:c.*369GT[1], XM_047417240.1:c.*369GT[1], XM_047417254.1:c.*527GT[1], XM_047417255.1:c.*527GT[1], XM_047417256.1:c.*527GT[1], XM_047417243.1:c.*369GT[1], XM_047417244.1:c.*369GT[1], XM_047417248.1:c.*369GT[1], XM_047417252.1:c.*369GT[1]

          5.

          rs1488728647 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            5:103030885 (GRCh38)
            5:102366589 (GRCh37)
            Canonical SPDI:
            NC_000005.10:103030884:C:T
            Gene:
            PAM (Varview)
            Functional Consequence:
            3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000008/2 (TOPMED)
            HGVS:
            NC_000005.10:g.103030885C>T, NC_000005.9:g.102366589C>T, NG_029444.2:g.281103C>T, NM_000919.3:c.*1820C>T, NM_001364583.2:c.*1820C>T, NM_001364583.1:c.*1820C>T, NM_001364584.2:c.*1820C>T, NM_001364584.1:c.*1820C>T, NM_001364582.2:c.*1820C>T, NM_001364582.1:c.*1820C>T, NM_001364590.2:c.*1820C>T, NM_001364590.1:c.*1820C>T, NM_001364585.2:c.*1820C>T, NM_001364585.1:c.*1820C>T, NM_138766.2:c.*1820C>T, NM_138822.2:c.*1820C>T, NM_001364586.2:c.*1820C>T, NM_001364586.1:c.*1820C>T, NM_001364587.2:c.*1820C>T, NM_001364587.1:c.*1820C>T, NM_001364588.2:c.*1820C>T, NM_001364588.1:c.*1820C>T, NM_138821.2:c.*1820C>T, NM_001364589.2:c.*1820C>T, NM_001364589.1:c.*1820C>T, NM_001364591.2:c.*1820C>T, NM_001364591.1:c.*1820C>T, NM_001364592.2:c.*1820C>T, NM_001364592.1:c.*1820C>T, NM_001364593.2:c.*1820C>T, NM_001364593.1:c.*1820C>T, NM_001364594.2:c.*1820C>T, NM_001364594.1:c.*1820C>T, NM_001319943.1:c.*1820C>T, NR_033440.1:n.5054C>T, XM_011543419.4:c.*1820C>T, XM_017009495.3:c.*1820C>T, XM_017009496.3:c.*1820C>T, XM_017009502.3:c.*1820C>T, XM_017009511.3:c.*1978C>T, XM_017009497.3:c.*1820C>T, XM_017009505.3:c.*1820C>T, XM_017009507.3:c.*1820C>T, XM_024446066.2:c.*1820C>T, XM_024446069.2:c.*1820C>T, XM_024446070.2:c.*1820C>T, XM_024446072.2:c.*1820C>T, XM_024446075.2:c.*1820C>T, XM_024446074.2:c.*1820C>T, XM_024446080.2:c.*1978C>T, XM_024446076.2:c.*1820C>T, XM_024446081.2:c.*1978C>T, XM_024446078.2:c.*1820C>T, XM_024446084.2:c.*1820C>T, XM_024446085.2:c.*1820C>T, XM_047417241.1:c.*1820C>T, XM_047417242.1:c.*1820C>T, XM_047417249.1:c.*1978C>T, XM_047417250.1:c.*1978C>T, XM_047417251.1:c.*1978C>T, XM_047417245.1:c.*1820C>T, XM_047417240.1:c.*1820C>T, NM_001177306.1:c.*1820C>T, XM_047417254.1:c.*1978C>T, XM_047417255.1:c.*1978C>T, XM_047417256.1:c.*1978C>T, XM_047417243.1:c.*1820C>T, XM_047417244.1:c.*1820C>T, XM_047417248.1:c.*1820C>T, XM_047417252.1:c.*1820C>T

            6.

            rs1488272297 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              5:103030481 (GRCh38)
              5:102366185 (GRCh37)
              Canonical SPDI:
              NC_000005.10:103030480:T:C
              Gene:
              PAM (Varview)
              Functional Consequence:
              3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
              Validated:
              by frequency
              MAF:
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000005.10:g.103030481T>C, NC_000005.9:g.102366185T>C, NG_029444.2:g.280699T>C, NM_000919.3:c.*1416T>C, NM_001364583.2:c.*1416T>C, NM_001364583.1:c.*1416T>C, NM_001364584.2:c.*1416T>C, NM_001364584.1:c.*1416T>C, NM_001364582.2:c.*1416T>C, NM_001364582.1:c.*1416T>C, NM_001364590.2:c.*1416T>C, NM_001364590.1:c.*1416T>C, NM_001364585.2:c.*1416T>C, NM_001364585.1:c.*1416T>C, NM_138766.2:c.*1416T>C, NM_138822.2:c.*1416T>C, NM_001364586.2:c.*1416T>C, NM_001364586.1:c.*1416T>C, NM_001364587.2:c.*1416T>C, NM_001364587.1:c.*1416T>C, NM_001364588.2:c.*1416T>C, NM_001364588.1:c.*1416T>C, NM_138821.2:c.*1416T>C, NM_001364589.2:c.*1416T>C, NM_001364589.1:c.*1416T>C, NM_001364591.2:c.*1416T>C, NM_001364591.1:c.*1416T>C, NM_001364592.2:c.*1416T>C, NM_001364592.1:c.*1416T>C, NM_001364593.2:c.*1416T>C, NM_001364593.1:c.*1416T>C, NM_001364594.2:c.*1416T>C, NM_001364594.1:c.*1416T>C, NM_001319943.1:c.*1416T>C, NR_033440.1:n.4650T>C, XM_011543419.4:c.*1416T>C, XM_017009495.3:c.*1416T>C, XM_017009496.3:c.*1416T>C, XM_017009502.3:c.*1416T>C, XM_017009511.3:c.*1574T>C, XM_017009497.3:c.*1416T>C, XM_017009505.3:c.*1416T>C, XM_017009507.3:c.*1416T>C, XM_024446066.2:c.*1416T>C, XM_024446069.2:c.*1416T>C, XM_024446070.2:c.*1416T>C, XM_024446072.2:c.*1416T>C, XM_024446075.2:c.*1416T>C, XM_024446074.2:c.*1416T>C, XM_024446080.2:c.*1574T>C, XM_024446076.2:c.*1416T>C, XM_024446081.2:c.*1574T>C, XM_024446078.2:c.*1416T>C, XM_024446084.2:c.*1416T>C, XM_024446085.2:c.*1416T>C, XM_047417241.1:c.*1416T>C, XM_047417242.1:c.*1416T>C, XM_047417249.1:c.*1574T>C, XM_047417250.1:c.*1574T>C, XM_047417251.1:c.*1574T>C, XM_047417245.1:c.*1416T>C, XM_047417240.1:c.*1416T>C, NM_001177306.1:c.*1416T>C, XM_047417254.1:c.*1574T>C, XM_047417255.1:c.*1574T>C, XM_047417256.1:c.*1574T>C, XM_047417243.1:c.*1416T>C, XM_047417244.1:c.*1416T>C, XM_047417248.1:c.*1416T>C, XM_047417252.1:c.*1416T>C

              7.

              rs1488249785 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C,G [Show Flanks]
                Chromosome:
                5:103029215 (GRCh38)
                5:102364919 (GRCh37)
                Canonical SPDI:
                NC_000005.10:103029214:T:C,NC_000005.10:103029214:T:G
                Gene:
                PAM (Varview)
                Functional Consequence:
                3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                G=0.000035/1 (TOMMO)
                HGVS:
                NC_000005.10:g.103029215T>C, NC_000005.10:g.103029215T>G, NC_000005.9:g.102364919T>C, NC_000005.9:g.102364919T>G, NG_029444.2:g.279433T>C, NG_029444.2:g.279433T>G, NM_000919.4:c.*150T>C, NM_000919.4:c.*150T>G, NM_000919.3:c.*150T>C, NM_000919.3:c.*150T>G, NM_001364583.2:c.*150T>C, NM_001364583.2:c.*150T>G, NM_001364583.1:c.*150T>C, NM_001364583.1:c.*150T>G, NM_001364584.2:c.*150T>C, NM_001364584.2:c.*150T>G, NM_001364584.1:c.*150T>C, NM_001364584.1:c.*150T>G, NM_001364582.2:c.*150T>C, NM_001364582.2:c.*150T>G, NM_001364582.1:c.*150T>C, NM_001364582.1:c.*150T>G, NM_001364590.2:c.*150T>C, NM_001364590.2:c.*150T>G, NM_001364590.1:c.*150T>C, NM_001364590.1:c.*150T>G, NM_001364585.2:c.*150T>C, NM_001364585.2:c.*150T>G, NM_001364585.1:c.*150T>C, NM_001364585.1:c.*150T>G, NM_138766.2:c.*150T>C, NM_138766.2:c.*150T>G, NM_138822.2:c.*150T>C, NM_138822.2:c.*150T>G, NM_001364586.2:c.*150T>C, NM_001364586.2:c.*150T>G, NM_001364586.1:c.*150T>C, NM_001364586.1:c.*150T>G, NM_001364587.2:c.*150T>C, NM_001364587.2:c.*150T>G, NM_001364587.1:c.*150T>C, NM_001364587.1:c.*150T>G, NM_001364588.2:c.*150T>C, NM_001364588.2:c.*150T>G, NM_001364588.1:c.*150T>C, NM_001364588.1:c.*150T>G, NM_138821.2:c.*150T>C, NM_138821.2:c.*150T>G, NM_001364589.2:c.*150T>C, NM_001364589.2:c.*150T>G, NM_001364589.1:c.*150T>C, NM_001364589.1:c.*150T>G, NM_001364591.2:c.*150T>C, NM_001364591.2:c.*150T>G, NM_001364591.1:c.*150T>C, NM_001364591.1:c.*150T>G, NM_001364592.2:c.*150T>C, NM_001364592.2:c.*150T>G, NM_001364592.1:c.*150T>C, NM_001364592.1:c.*150T>G, NM_001364593.2:c.*150T>C, NM_001364593.2:c.*150T>G, NM_001364593.1:c.*150T>C, NM_001364593.1:c.*150T>G, NM_001364594.2:c.*150T>C, NM_001364594.2:c.*150T>G, NM_001364594.1:c.*150T>C, NM_001364594.1:c.*150T>G, NM_001177306.2:c.*150T>C, NM_001177306.2:c.*150T>G, NM_001177306.1:c.*150T>C, NM_001177306.1:c.*150T>G, NM_001319943.1:c.*150T>C, NM_001319943.1:c.*150T>G, NR_033440.1:n.3384T>C, NR_033440.1:n.3384T>G, XM_011543419.4:c.*150T>C, XM_011543419.4:c.*150T>G, XM_011543419.3:c.*150T>C, XM_011543419.3:c.*150T>G, XM_011543419.2:c.*150T>C, XM_011543419.2:c.*150T>G, XM_011543419.1:c.*150T>C, XM_011543419.1:c.*150T>G, XM_017009495.3:c.*150T>C, XM_017009495.3:c.*150T>G, XM_017009495.2:c.*150T>C, XM_017009495.2:c.*150T>G, XM_017009495.1:c.*150T>C, XM_017009495.1:c.*150T>G, XM_017009496.3:c.*150T>C, XM_017009496.3:c.*150T>G, XM_017009496.2:c.*150T>C, XM_017009496.2:c.*150T>G, XM_017009496.1:c.*150T>C, XM_017009496.1:c.*150T>G, XM_017009502.3:c.*150T>C, XM_017009502.3:c.*150T>G, XM_017009502.2:c.*150T>C, XM_017009502.2:c.*150T>G, XM_017009502.1:c.*150T>C, XM_017009502.1:c.*150T>G, XM_017009511.3:c.*308T>C, XM_017009511.3:c.*308T>G, XM_017009511.2:c.*308T>C, XM_017009511.2:c.*308T>G, XM_017009511.1:c.*308T>C, XM_017009511.1:c.*308T>G, XM_017009497.3:c.*150T>C, XM_017009497.3:c.*150T>G, XM_017009497.2:c.*150T>C, XM_017009497.2:c.*150T>G, XM_017009497.1:c.*150T>C, XM_017009497.1:c.*150T>G, XM_017009505.3:c.*150T>C, XM_017009505.3:c.*150T>G, XM_017009505.2:c.*150T>C, XM_017009505.2:c.*150T>G, XM_017009505.1:c.*150T>C, XM_017009505.1:c.*150T>G, XM_017009507.3:c.*150T>C, XM_017009507.3:c.*150T>G, XM_017009507.2:c.*150T>C, XM_017009507.2:c.*150T>G, XM_017009507.1:c.*150T>C, XM_017009507.1:c.*150T>G, XM_024446066.2:c.*150T>C, XM_024446066.2:c.*150T>G, XM_024446066.1:c.*150T>C, XM_024446066.1:c.*150T>G, XM_024446069.2:c.*150T>C, XM_024446069.2:c.*150T>G, XM_024446069.1:c.*150T>C, XM_024446069.1:c.*150T>G, XM_024446070.2:c.*150T>C, XM_024446070.2:c.*150T>G, XM_024446070.1:c.*150T>C, XM_024446070.1:c.*150T>G, XM_024446072.2:c.*150T>C, XM_024446072.2:c.*150T>G, XM_024446072.1:c.*150T>C, XM_024446072.1:c.*150T>G, XM_024446075.2:c.*150T>C, XM_024446075.2:c.*150T>G, XM_024446075.1:c.*150T>C, XM_024446075.1:c.*150T>G, XM_024446074.2:c.*150T>C, XM_024446074.2:c.*150T>G, XM_024446074.1:c.*150T>C, XM_024446074.1:c.*150T>G, XM_024446080.2:c.*308T>C, XM_024446080.2:c.*308T>G, XM_024446080.1:c.*308T>C, XM_024446080.1:c.*308T>G, XM_024446076.2:c.*150T>C, XM_024446076.2:c.*150T>G, XM_024446076.1:c.*150T>C, XM_024446076.1:c.*150T>G, XM_024446081.2:c.*308T>C, XM_024446081.2:c.*308T>G, XM_024446081.1:c.*308T>C, XM_024446081.1:c.*308T>G, XM_024446078.2:c.*150T>C, XM_024446078.2:c.*150T>G, XM_024446078.1:c.*150T>C, XM_024446078.1:c.*150T>G, XM_024446084.2:c.*150T>C, XM_024446084.2:c.*150T>G, XM_024446084.1:c.*150T>C, XM_024446084.1:c.*150T>G, XM_024446085.2:c.*150T>C, XM_024446085.2:c.*150T>G, XM_024446085.1:c.*150T>C, XM_024446085.1:c.*150T>G, XM_047417241.1:c.*150T>C, XM_047417241.1:c.*150T>G, XM_047417242.1:c.*150T>C, XM_047417242.1:c.*150T>G, XM_047417249.1:c.*308T>C, XM_047417249.1:c.*308T>G, XM_047417250.1:c.*308T>C, XM_047417250.1:c.*308T>G, XM_047417251.1:c.*308T>C, XM_047417251.1:c.*308T>G, XM_047417245.1:c.*150T>C, XM_047417245.1:c.*150T>G, XM_047417240.1:c.*150T>C, XM_047417240.1:c.*150T>G, XM_047417254.1:c.*308T>C, XM_047417254.1:c.*308T>G, XM_047417255.1:c.*308T>C, XM_047417255.1:c.*308T>G, XM_047417256.1:c.*308T>C, XM_047417256.1:c.*308T>G, XM_047417243.1:c.*150T>C, XM_047417243.1:c.*150T>G, XM_047417244.1:c.*150T>C, XM_047417244.1:c.*150T>G, XM_047417248.1:c.*150T>C, XM_047417248.1:c.*150T>G, XM_047417252.1:c.*150T>C, XM_047417252.1:c.*150T>G

                8.

                rs1487971572 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  5:103028907 (GRCh38)
                  5:102364611 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:103028906:A:T
                  Gene:
                  PAM (Varview)
                  Functional Consequence:
                  coding_sequence_variant,stop_lost,non_coding_transcript_variant,genic_downstream_transcript_variant,terminator_codon_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000005.10:g.103028907A>T, NC_000005.9:g.102364611A>T, NG_029444.2:g.279125A>T, NM_000919.4:c.2767A>T, NM_000919.3:c.2767A>T, NM_001364583.2:c.2764A>T, NM_001364583.1:c.2764A>T, NM_001364584.2:c.2761A>T, NM_001364584.1:c.2761A>T, NM_001364582.2:c.2710A>T, NM_001364582.1:c.2710A>T, NM_001364590.2:c.2335A>T, NM_001364590.1:c.2335A>T, NM_001364585.2:c.2563A>T, NM_001364585.1:c.2563A>T, NM_138766.2:c.2560A>T, NM_138822.2:c.2506A>T, NM_001364586.2:c.2446A>T, NM_001364586.1:c.2446A>T, NM_001364587.2:c.2443A>T, NM_001364587.1:c.2443A>T, NM_001364588.2:c.2440A>T, NM_001364588.1:c.2440A>T, NM_138821.2:c.2443A>T, NM_001364589.2:c.2389A>T, NM_001364589.1:c.2389A>T, NM_001364591.2:c.2296A>T, NM_001364591.1:c.2296A>T, NM_001364592.2:c.2293A>T, NM_001364592.1:c.2293A>T, NM_001364593.2:c.2242A>T, NM_001364593.1:c.2242A>T, NM_001364594.2:c.2239A>T, NM_001364594.1:c.2239A>T, NM_001177306.2:c.2764A>T, NM_001177306.1:c.2764A>T, NM_001319943.1:c.2818A>T, NR_033440.1:n.3076A>T, NG_083782.1:g.1118A>T, XM_011543419.4:c.2821A>T, XM_011543419.3:c.2821A>T, XM_011543419.2:c.2821A>T, XM_011543419.1:c.2821A>T, XM_017009495.3:c.2818A>T, XM_017009495.2:c.2818A>T, XM_017009495.1:c.2818A>T, XM_017009496.3:c.2815A>T, XM_017009496.2:c.2815A>T, XM_017009496.1:c.2815A>T, XM_017009502.3:c.2617A>T, XM_017009502.2:c.2617A>T, XM_017009502.1:c.2617A>T, XM_017009511.3:c.2517A>T, XM_017009511.2:c.2517A>T, XM_017009511.1:c.2517A>T, XM_017009497.3:c.2767A>T, XM_017009497.2:c.2767A>T, XM_017009497.1:c.2767A>T, XM_017009505.3:c.2560A>T, XM_017009505.2:c.2560A>T, XM_017009505.1:c.2560A>T, XM_017009507.3:c.2446A>T, XM_017009507.2:c.2446A>T, XM_017009507.1:c.2446A>T, XM_024446066.2:c.2821A>T, XM_024446066.1:c.2821A>T, XM_024446069.2:c.2764A>T, XM_024446069.1:c.2764A>T, XM_024446070.2:c.2710A>T, XM_024446070.1:c.2710A>T, XM_024446072.2:c.2614A>T, XM_024446072.1:c.2614A>T, XM_024446075.2:c.2560A>T, XM_024446075.1:c.2560A>T, XM_024446074.2:c.2560A>T, XM_024446074.1:c.2560A>T, XM_024446080.2:c.2514A>T, XM_024446080.1:c.2514A>T, XM_024446076.2:c.2506A>T, XM_024446076.1:c.2506A>T, XM_024446081.2:c.2460A>T, XM_024446081.1:c.2460A>T, XM_024446078.2:c.2443A>T, XM_024446078.1:c.2443A>T, XM_024446084.2:c.2185A>T, XM_024446084.1:c.2185A>T, XM_024446085.2:c.2593A>T, XM_024446085.1:c.2593A>T, XM_047417241.1:c.2761A>T, XM_047417242.1:c.2707A>T, XM_047417249.1:c.2463A>T, XM_047417250.1:c.2460A>T, XM_047417251.1:c.2406A>T, XM_047417245.1:c.2386A>T, XM_047417240.1:c.2764A>T, XM_047417254.1:c.2142A>T, XM_047417255.1:c.2139A>T, XM_047417256.1:c.2085A>T, XM_047417243.1:c.2563A>T, XM_047417244.1:c.2443A>T, XM_047417248.1:c.2332A>T, XM_047417252.1:c.2215A>T, NP_000910.2:p.Asn923Tyr, NP_001351512.1:p.Asn922Tyr, NP_001351513.1:p.Asn921Tyr, NP_001351511.1:p.Asn904Tyr, NP_001351519.1:p.Asn779Tyr, NP_001351514.1:p.Asn855Tyr, NP_620121.1:p.Asn854Tyr, NP_620177.1:p.Asn836Tyr, NP_001351515.1:p.Asn816Tyr, NP_001351516.1:p.Asn815Tyr, NP_001351517.1:p.Asn814Tyr, NP_620176.1:p.Asn815Tyr, NP_001351518.1:p.Asn797Tyr, NP_001351520.1:p.Asn766Tyr, NP_001351521.1:p.Asn765Tyr, NP_001351522.1:p.Asn748Tyr, NP_001351523.1:p.Asn747Tyr, NP_001170777.1:p.Asn922Tyr, NP_001306872.1:p.Asn940Tyr, XP_011541721.1:p.Asn941Tyr, XP_016864984.1:p.Asn940Tyr, XP_016864985.1:p.Asn939Tyr, XP_016864991.1:p.Asn873Tyr, XP_016865000.1:p.Ter839Tyr, XP_016864986.1:p.Asn923Tyr, XP_016864994.1:p.Asn854Tyr, XP_016864996.1:p.Asn816Tyr, XP_024301834.1:p.Asn941Tyr, XP_024301837.1:p.Asn922Tyr, XP_024301838.1:p.Asn904Tyr, XP_024301840.1:p.Asn872Tyr, XP_024301843.1:p.Asn854Tyr, XP_024301842.1:p.Asn854Tyr, XP_024301848.1:p.Ter838Tyr, XP_024301844.1:p.Asn836Tyr, XP_024301849.1:p.Ter820Tyr, XP_024301846.1:p.Asn815Tyr, XP_024301852.1:p.Asn729Tyr, XP_024301853.1:p.Asn865Tyr, XP_047273197.1:p.Asn921Tyr, XP_047273198.1:p.Asn903Tyr, XP_047273205.1:p.Ter821Tyr, XP_047273206.1:p.Ter820Tyr, XP_047273207.1:p.Ter802Tyr, XP_047273201.1:p.Asn796Tyr, XP_047273196.1:p.Asn922Tyr, XP_047273210.1:p.Ter714Tyr, XP_047273211.1:p.Ter713Tyr, XP_047273212.1:p.Ter695Tyr, XP_047273199.1:p.Asn855Tyr, XP_047273200.1:p.Asn815Tyr, XP_047273204.1:p.Asn778Tyr, XP_047273208.1:p.Asn739Tyr

                  9.

                  rs1486530501 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    5:103029410 (GRCh38)
                    5:102365114 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:103029409:T:G
                    Gene:
                    PAM (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000011/3 (TOPMED)
                    G=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000005.10:g.103029410T>G, NC_000005.9:g.102365114T>G, NG_029444.2:g.279628T>G, NM_000919.4:c.*345T>G, NM_000919.3:c.*345T>G, NM_001364583.2:c.*345T>G, NM_001364583.1:c.*345T>G, NM_001364584.2:c.*345T>G, NM_001364584.1:c.*345T>G, NM_001364582.2:c.*345T>G, NM_001364582.1:c.*345T>G, NM_001364590.2:c.*345T>G, NM_001364590.1:c.*345T>G, NM_001364585.2:c.*345T>G, NM_001364585.1:c.*345T>G, NM_138766.2:c.*345T>G, NM_138822.2:c.*345T>G, NM_001364586.2:c.*345T>G, NM_001364586.1:c.*345T>G, NM_001364587.2:c.*345T>G, NM_001364587.1:c.*345T>G, NM_001364588.2:c.*345T>G, NM_001364588.1:c.*345T>G, NM_138821.2:c.*345T>G, NM_001364589.2:c.*345T>G, NM_001364589.1:c.*345T>G, NM_001364591.2:c.*345T>G, NM_001364591.1:c.*345T>G, NM_001364592.2:c.*345T>G, NM_001364592.1:c.*345T>G, NM_001364593.2:c.*345T>G, NM_001364593.1:c.*345T>G, NM_001364594.2:c.*345T>G, NM_001364594.1:c.*345T>G, NM_001177306.2:c.*345T>G, NM_001177306.1:c.*345T>G, NM_001319943.1:c.*345T>G, NR_033440.1:n.3579T>G, XM_011543419.4:c.*345T>G, XM_011543419.3:c.*345T>G, XM_011543419.2:c.*345T>G, XM_011543419.1:c.*345T>G, XM_017009495.3:c.*345T>G, XM_017009495.2:c.*345T>G, XM_017009495.1:c.*345T>G, XM_017009496.3:c.*345T>G, XM_017009496.2:c.*345T>G, XM_017009496.1:c.*345T>G, XM_017009502.3:c.*345T>G, XM_017009502.2:c.*345T>G, XM_017009502.1:c.*345T>G, XM_017009511.3:c.*503T>G, XM_017009511.2:c.*503T>G, XM_017009511.1:c.*503T>G, XM_017009497.3:c.*345T>G, XM_017009497.2:c.*345T>G, XM_017009497.1:c.*345T>G, XM_017009505.3:c.*345T>G, XM_017009505.2:c.*345T>G, XM_017009505.1:c.*345T>G, XM_017009507.3:c.*345T>G, XM_017009507.2:c.*345T>G, XM_017009507.1:c.*345T>G, XM_024446066.2:c.*345T>G, XM_024446066.1:c.*345T>G, XM_024446069.2:c.*345T>G, XM_024446069.1:c.*345T>G, XM_024446070.2:c.*345T>G, XM_024446070.1:c.*345T>G, XM_024446072.2:c.*345T>G, XM_024446072.1:c.*345T>G, XM_024446075.2:c.*345T>G, XM_024446075.1:c.*345T>G, XM_024446074.2:c.*345T>G, XM_024446074.1:c.*345T>G, XM_024446080.2:c.*503T>G, XM_024446080.1:c.*503T>G, XM_024446076.2:c.*345T>G, XM_024446076.1:c.*345T>G, XM_024446081.2:c.*503T>G, XM_024446081.1:c.*503T>G, XM_024446078.2:c.*345T>G, XM_024446078.1:c.*345T>G, XM_024446084.2:c.*345T>G, XM_024446084.1:c.*345T>G, XM_024446085.2:c.*345T>G, XM_024446085.1:c.*345T>G, XM_047417241.1:c.*345T>G, XM_047417242.1:c.*345T>G, XM_047417249.1:c.*503T>G, XM_047417250.1:c.*503T>G, XM_047417251.1:c.*503T>G, XM_047417245.1:c.*345T>G, XM_047417240.1:c.*345T>G, XM_047417254.1:c.*503T>G, XM_047417255.1:c.*503T>G, XM_047417256.1:c.*503T>G, XM_047417243.1:c.*345T>G, XM_047417244.1:c.*345T>G, XM_047417248.1:c.*345T>G, XM_047417252.1:c.*345T>G

                    10.

                    rs1486273072 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      5:103006905 (GRCh38)
                      5:102342609 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:103006904:G:A
                      Gene:
                      PAM (Varview)
                      Functional Consequence:
                      synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000005.10:g.103006905G>A, NC_000005.9:g.102342609G>A, NG_029444.2:g.257123G>A, NM_000919.4:c.1908G>A, NM_000919.3:c.1908G>A, NM_001364583.2:c.1908G>A, NM_001364583.1:c.1908G>A, NM_001364584.2:c.1908G>A, NM_001364584.1:c.1908G>A, NM_001364582.2:c.1908G>A, NM_001364582.1:c.1908G>A, NM_001364590.2:c.1680G>A, NM_001364590.1:c.1680G>A, NM_001364585.2:c.1908G>A, NM_001364585.1:c.1908G>A, NM_138766.2:c.1908G>A, NM_138822.2:c.1908G>A, NM_001364586.2:c.1587G>A, NM_001364586.1:c.1587G>A, NM_001364587.2:c.1587G>A, NM_001364587.1:c.1587G>A, NM_001364588.2:c.1587G>A, NM_001364588.1:c.1587G>A, NM_138821.2:c.1587G>A, NM_001364589.2:c.1587G>A, NM_001364589.1:c.1587G>A, NM_001364591.2:c.1641G>A, NM_001364591.1:c.1641G>A, NM_001364592.2:c.1641G>A, NM_001364592.1:c.1641G>A, NM_001364593.2:c.1587G>A, NM_001364593.1:c.1587G>A, NM_001364594.2:c.1587G>A, NM_001364594.1:c.1587G>A, NM_001177306.2:c.1908G>A, NM_001177306.1:c.1908G>A, NM_001319943.1:c.1962G>A, NR_033440.1:n.2223G>A, XM_011543419.4:c.1962G>A, XM_011543419.3:c.1962G>A, XM_011543419.2:c.1962G>A, XM_011543419.1:c.1962G>A, XM_017009495.3:c.1962G>A, XM_017009495.2:c.1962G>A, XM_017009495.1:c.1962G>A, XM_017009496.3:c.1962G>A, XM_017009496.2:c.1962G>A, XM_017009496.1:c.1962G>A, XM_017009502.3:c.1962G>A, XM_017009502.2:c.1962G>A, XM_017009502.1:c.1962G>A, XM_017009511.3:c.1962G>A, XM_017009511.2:c.1962G>A, XM_017009511.1:c.1962G>A, XM_017009497.3:c.1908G>A, XM_017009497.2:c.1908G>A, XM_017009497.1:c.1908G>A, XM_017009505.3:c.1908G>A, XM_017009505.2:c.1908G>A, XM_017009505.1:c.1908G>A, XM_017009507.3:c.1587G>A, XM_017009507.2:c.1587G>A, XM_017009507.1:c.1587G>A, XM_024446066.2:c.1962G>A, XM_024446066.1:c.1962G>A, XM_024446069.2:c.1962G>A, XM_024446069.1:c.1962G>A, XM_024446070.2:c.1908G>A, XM_024446070.1:c.1908G>A, XM_024446072.2:c.1962G>A, XM_024446072.1:c.1962G>A, XM_024446075.2:c.1962G>A, XM_024446075.1:c.1962G>A, XM_024446074.2:c.1908G>A, XM_024446074.1:c.1908G>A, XM_024446080.2:c.1962G>A, XM_024446080.1:c.1962G>A, XM_024446076.2:c.1908G>A, XM_024446076.1:c.1908G>A, XM_024446081.2:c.1962G>A, XM_024446081.1:c.1962G>A, XM_024446078.2:c.1587G>A, XM_024446078.1:c.1587G>A, XM_024446084.2:c.1587G>A, XM_024446084.1:c.1587G>A, XM_024446085.2:c.1734G>A, XM_024446085.1:c.1734G>A, XM_047417241.1:c.1962G>A, XM_047417242.1:c.1908G>A, XM_047417249.1:c.1908G>A, XM_047417250.1:c.1908G>A, XM_047417251.1:c.1908G>A, XM_047417245.1:c.1587G>A, XM_047417240.1:c.1908G>A, XM_047417254.1:c.1587G>A, XM_047417255.1:c.1587G>A, XM_047417256.1:c.1587G>A, XM_047417243.1:c.1908G>A, XM_047417244.1:c.1587G>A, XM_047417248.1:c.1680G>A, XM_047417252.1:c.1359G>A, XM_047417246.1:c.1962G>A, XM_047417247.1:c.1962G>A, XM_047417253.1:c.1587G>A

                      11.

                      rs1486266747 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        5:103029666 (GRCh38)
                        5:102365370 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:103029665:A:G
                        Gene:
                        PAM (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000029/4 (GnomAD)
                        G=0.00003/8 (TOPMED)
                        HGVS:
                        NC_000005.10:g.103029666A>G, NC_000005.9:g.102365370A>G, NG_029444.2:g.279884A>G, NM_000919.4:c.*601A>G, NM_000919.3:c.*601A>G, NM_001364583.2:c.*601A>G, NM_001364583.1:c.*601A>G, NM_001364584.2:c.*601A>G, NM_001364584.1:c.*601A>G, NM_001364582.2:c.*601A>G, NM_001364582.1:c.*601A>G, NM_001364590.2:c.*601A>G, NM_001364590.1:c.*601A>G, NM_001364585.2:c.*601A>G, NM_001364585.1:c.*601A>G, NM_138766.2:c.*601A>G, NM_138822.2:c.*601A>G, NM_001364586.2:c.*601A>G, NM_001364586.1:c.*601A>G, NM_001364587.2:c.*601A>G, NM_001364587.1:c.*601A>G, NM_001364588.2:c.*601A>G, NM_001364588.1:c.*601A>G, NM_138821.2:c.*601A>G, NM_001364589.2:c.*601A>G, NM_001364589.1:c.*601A>G, NM_001364591.2:c.*601A>G, NM_001364591.1:c.*601A>G, NM_001364592.2:c.*601A>G, NM_001364592.1:c.*601A>G, NM_001364593.2:c.*601A>G, NM_001364593.1:c.*601A>G, NM_001364594.2:c.*601A>G, NM_001364594.1:c.*601A>G, NM_001177306.2:c.*601A>G, NM_001177306.1:c.*601A>G, NM_001319943.1:c.*601A>G, NR_033440.1:n.3835A>G, XM_011543419.4:c.*601A>G, XM_011543419.3:c.*601A>G, XM_011543419.1:c.*601A>G, XM_017009495.3:c.*601A>G, XM_017009495.2:c.*601A>G, XM_017009495.1:c.*601A>G, XM_017009496.3:c.*601A>G, XM_017009496.2:c.*601A>G, XM_017009496.1:c.*601A>G, XM_017009502.3:c.*601A>G, XM_017009502.2:c.*601A>G, XM_017009502.1:c.*601A>G, XM_017009511.3:c.*759A>G, XM_017009511.2:c.*759A>G, XM_017009511.1:c.*759A>G, XM_017009497.3:c.*601A>G, XM_017009497.2:c.*601A>G, XM_017009497.1:c.*601A>G, XM_017009505.3:c.*601A>G, XM_017009505.2:c.*601A>G, XM_017009505.1:c.*601A>G, XM_017009507.3:c.*601A>G, XM_017009507.2:c.*601A>G, XM_017009507.1:c.*601A>G, XM_024446066.2:c.*601A>G, XM_024446066.1:c.*601A>G, XM_024446069.2:c.*601A>G, XM_024446069.1:c.*601A>G, XM_024446070.2:c.*601A>G, XM_024446072.2:c.*601A>G, XM_024446072.1:c.*601A>G, XM_024446075.2:c.*601A>G, XM_024446075.1:c.*601A>G, XM_024446074.2:c.*601A>G, XM_024446074.1:c.*601A>G, XM_024446080.2:c.*759A>G, XM_024446080.1:c.*759A>G, XM_024446076.2:c.*601A>G, XM_024446076.1:c.*601A>G, XM_024446081.2:c.*759A>G, XM_024446081.1:c.*759A>G, XM_024446078.2:c.*601A>G, XM_024446078.1:c.*601A>G, XM_024446084.2:c.*601A>G, XM_024446085.2:c.*601A>G, XM_024446085.1:c.*601A>G, XM_047417241.1:c.*601A>G, XM_047417242.1:c.*601A>G, XM_047417249.1:c.*759A>G, XM_047417250.1:c.*759A>G, XM_047417251.1:c.*759A>G, XM_047417245.1:c.*601A>G, XM_047417240.1:c.*601A>G, XM_047417254.1:c.*759A>G, XM_047417255.1:c.*759A>G, XM_047417256.1:c.*759A>G, XM_047417243.1:c.*601A>G, XM_047417244.1:c.*601A>G, XM_047417248.1:c.*601A>G, XM_047417252.1:c.*601A>G

                        12.

                        rs1486211347 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          5:102959981 (GRCh38)
                          5:102295685 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:102959980:T:C
                          Gene:
                          PAM (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000005.10:g.102959981T>C, NC_000005.9:g.102295685T>C, NG_029444.2:g.210199T>C, NM_000919.4:c.1012T>C, NM_000919.3:c.1012T>C, NM_001364583.2:c.1012T>C, NM_001364583.1:c.1012T>C, NM_001364584.2:c.1012T>C, NM_001364584.1:c.1012T>C, NM_001364582.2:c.1012T>C, NM_001364582.1:c.1012T>C, NM_001364590.2:c.784T>C, NM_001364590.1:c.784T>C, NM_001364585.2:c.1012T>C, NM_001364585.1:c.1012T>C, NM_138766.2:c.1012T>C, NM_138822.2:c.1012T>C, NM_001364586.2:c.1012T>C, NM_001364586.1:c.1012T>C, NM_001364587.2:c.1012T>C, NM_001364587.1:c.1012T>C, NM_001364588.2:c.1012T>C, NM_001364588.1:c.1012T>C, NM_138821.2:c.1012T>C, NM_001364589.2:c.1012T>C, NM_001364589.1:c.1012T>C, NM_001364591.2:c.1012T>C, NM_001364591.1:c.1012T>C, NM_001364592.2:c.1012T>C, NM_001364592.1:c.1012T>C, NM_001364593.2:c.1012T>C, NM_001364593.1:c.1012T>C, NM_001364594.2:c.1012T>C, NM_001364594.1:c.1012T>C, NM_001177306.2:c.1012T>C, NM_001177306.1:c.1012T>C, NM_001319943.1:c.1012T>C, NR_033440.1:n.1327T>C, NR_157231.1:n.1496T>C, XM_011543419.4:c.1012T>C, XM_011543419.3:c.1012T>C, XM_011543419.2:c.1012T>C, XM_011543419.1:c.1012T>C, XM_017009495.3:c.1012T>C, XM_017009495.2:c.1012T>C, XM_017009495.1:c.1012T>C, XM_017009496.3:c.1012T>C, XM_017009496.2:c.1012T>C, XM_017009496.1:c.1012T>C, XM_017009502.3:c.1012T>C, XM_017009502.2:c.1012T>C, XM_017009502.1:c.1012T>C, XM_017009511.3:c.1012T>C, XM_017009511.2:c.1012T>C, XM_017009511.1:c.1012T>C, XM_017009497.3:c.1012T>C, XM_017009497.2:c.1012T>C, XM_017009497.1:c.1012T>C, XM_017009505.3:c.1012T>C, XM_017009505.2:c.1012T>C, XM_017009505.1:c.1012T>C, XM_017009507.3:c.1012T>C, XM_017009507.2:c.1012T>C, XM_017009507.1:c.1012T>C, XM_024446066.2:c.1012T>C, XM_024446066.1:c.1012T>C, XM_024446069.2:c.1012T>C, XM_024446069.1:c.1012T>C, XM_024446070.2:c.1012T>C, XM_024446070.1:c.1012T>C, XM_024446072.2:c.1012T>C, XM_024446072.1:c.1012T>C, XM_024446075.2:c.1012T>C, XM_024446075.1:c.1012T>C, XM_024446074.2:c.1012T>C, XM_024446074.1:c.1012T>C, XM_024446080.2:c.1012T>C, XM_024446080.1:c.1012T>C, XM_024446076.2:c.1012T>C, XM_024446076.1:c.1012T>C, XM_024446081.2:c.1012T>C, XM_024446081.1:c.1012T>C, XM_024446078.2:c.1012T>C, XM_024446078.1:c.1012T>C, XM_024446084.2:c.1012T>C, XM_024446084.1:c.1012T>C, XM_024446085.2:c.784T>C, XM_024446085.1:c.784T>C, XM_047417241.1:c.1012T>C, XM_047417242.1:c.1012T>C, XM_047417249.1:c.1012T>C, XM_047417250.1:c.1012T>C, XM_047417251.1:c.1012T>C, XM_047417245.1:c.1012T>C, XM_047417240.1:c.1012T>C, XM_047417254.1:c.1012T>C, XM_047417255.1:c.1012T>C, XM_047417256.1:c.1012T>C, XM_047417243.1:c.1012T>C, XM_047417244.1:c.1012T>C, XM_047417248.1:c.784T>C, XM_047417252.1:c.784T>C, XM_047417246.1:c.1012T>C, XM_047417247.1:c.1012T>C, XM_047417253.1:c.1012T>C, NP_000910.2:p.Phe338Leu, NP_001351512.1:p.Phe338Leu, NP_001351513.1:p.Phe338Leu, NP_001351511.1:p.Phe338Leu, NP_001351519.1:p.Phe262Leu, NP_001351514.1:p.Phe338Leu, NP_620121.1:p.Phe338Leu, NP_620177.1:p.Phe338Leu, NP_001351515.1:p.Phe338Leu, NP_001351516.1:p.Phe338Leu, NP_001351517.1:p.Phe338Leu, NP_620176.1:p.Phe338Leu, NP_001351518.1:p.Phe338Leu, NP_001351520.1:p.Phe338Leu, NP_001351521.1:p.Phe338Leu, NP_001351522.1:p.Phe338Leu, NP_001351523.1:p.Phe338Leu, NP_001170777.1:p.Phe338Leu, NP_001306872.1:p.Phe338Leu, XP_011541721.1:p.Phe338Leu, XP_016864984.1:p.Phe338Leu, XP_016864985.1:p.Phe338Leu, XP_016864991.1:p.Phe338Leu, XP_016865000.1:p.Phe338Leu, XP_016864986.1:p.Phe338Leu, XP_016864994.1:p.Phe338Leu, XP_016864996.1:p.Phe338Leu, XP_024301834.1:p.Phe338Leu, XP_024301837.1:p.Phe338Leu, XP_024301838.1:p.Phe338Leu, XP_024301840.1:p.Phe338Leu, XP_024301843.1:p.Phe338Leu, XP_024301842.1:p.Phe338Leu, XP_024301848.1:p.Phe338Leu, XP_024301844.1:p.Phe338Leu, XP_024301849.1:p.Phe338Leu, XP_024301846.1:p.Phe338Leu, XP_024301852.1:p.Phe338Leu, XP_024301853.1:p.Phe262Leu, XP_047273197.1:p.Phe338Leu, XP_047273198.1:p.Phe338Leu, XP_047273205.1:p.Phe338Leu, XP_047273206.1:p.Phe338Leu, XP_047273207.1:p.Phe338Leu, XP_047273201.1:p.Phe338Leu, XP_047273196.1:p.Phe338Leu, XP_047273210.1:p.Phe338Leu, XP_047273211.1:p.Phe338Leu, XP_047273212.1:p.Phe338Leu, XP_047273199.1:p.Phe338Leu, XP_047273200.1:p.Phe338Leu, XP_047273204.1:p.Phe262Leu, XP_047273208.1:p.Phe262Leu, XP_047273202.1:p.Phe338Leu, XP_047273203.1:p.Phe338Leu, XP_047273209.1:p.Phe338Leu

                          13.

                          rs1485747073 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            5:102990375 (GRCh38)
                            5:102326079 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:102990374:C:T
                            Gene:
                            PAM (Varview)
                            Functional Consequence:
                            synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000005.10:g.102990375C>T, NC_000005.9:g.102326079C>T, NG_029444.2:g.240593C>T, NM_000919.4:c.1587C>T, NM_000919.3:c.1587C>T, NM_001364583.2:c.1587C>T, NM_001364583.1:c.1587C>T, NM_001364584.2:c.1587C>T, NM_001364584.1:c.1587C>T, NM_001364582.2:c.1587C>T, NM_001364582.1:c.1587C>T, NM_001364590.2:c.1359C>T, NM_001364590.1:c.1359C>T, NM_001364585.2:c.1587C>T, NM_001364585.1:c.1587C>T, NM_138766.2:c.1587C>T, NM_138822.2:c.1587C>T, NM_001364586.2:c.1266C>T, NM_001364586.1:c.1266C>T, NM_001364587.2:c.1266C>T, NM_001364587.1:c.1266C>T, NM_001364588.2:c.1266C>T, NM_001364588.1:c.1266C>T, NM_138821.2:c.1266C>T, NM_001364589.2:c.1266C>T, NM_001364589.1:c.1266C>T, NM_001364591.2:c.1320C>T, NM_001364591.1:c.1320C>T, NM_001364592.2:c.1320C>T, NM_001364592.1:c.1320C>T, NM_001364593.2:c.1266C>T, NM_001364593.1:c.1266C>T, NM_001364594.2:c.1266C>T, NM_001364594.1:c.1266C>T, NM_001177306.2:c.1587C>T, NM_001177306.1:c.1587C>T, NM_001319943.1:c.1641C>T, NR_033440.1:n.1902C>T, XM_011543419.4:c.1641C>T, XM_011543419.3:c.1641C>T, XM_011543419.2:c.1641C>T, XM_011543419.1:c.1641C>T, XM_017009495.3:c.1641C>T, XM_017009495.2:c.1641C>T, XM_017009495.1:c.1641C>T, XM_017009496.3:c.1641C>T, XM_017009496.2:c.1641C>T, XM_017009496.1:c.1641C>T, XM_017009502.3:c.1641C>T, XM_017009502.2:c.1641C>T, XM_017009502.1:c.1641C>T, XM_017009511.3:c.1641C>T, XM_017009511.2:c.1641C>T, XM_017009511.1:c.1641C>T, XM_017009497.3:c.1587C>T, XM_017009497.2:c.1587C>T, XM_017009497.1:c.1587C>T, XM_017009505.3:c.1587C>T, XM_017009505.2:c.1587C>T, XM_017009505.1:c.1587C>T, XM_017009507.3:c.1266C>T, XM_017009507.2:c.1266C>T, XM_017009507.1:c.1266C>T, XM_024446066.2:c.1641C>T, XM_024446066.1:c.1641C>T, XM_024446069.2:c.1641C>T, XM_024446069.1:c.1641C>T, XM_024446070.2:c.1587C>T, XM_024446070.1:c.1587C>T, XM_024446072.2:c.1641C>T, XM_024446072.1:c.1641C>T, XM_024446075.2:c.1641C>T, XM_024446075.1:c.1641C>T, XM_024446074.2:c.1587C>T, XM_024446074.1:c.1587C>T, XM_024446080.2:c.1641C>T, XM_024446080.1:c.1641C>T, XM_024446076.2:c.1587C>T, XM_024446076.1:c.1587C>T, XM_024446081.2:c.1641C>T, XM_024446081.1:c.1641C>T, XM_024446078.2:c.1266C>T, XM_024446078.1:c.1266C>T, XM_024446084.2:c.1266C>T, XM_024446084.1:c.1266C>T, XM_024446085.2:c.1413C>T, XM_024446085.1:c.1413C>T, XM_047417241.1:c.1641C>T, XM_047417242.1:c.1587C>T, XM_047417249.1:c.1587C>T, XM_047417250.1:c.1587C>T, XM_047417251.1:c.1587C>T, XM_047417245.1:c.1266C>T, XM_047417240.1:c.1587C>T, XM_047417254.1:c.1266C>T, XM_047417255.1:c.1266C>T, XM_047417256.1:c.1266C>T, XM_047417243.1:c.1587C>T, XM_047417244.1:c.1266C>T, XM_047417248.1:c.1359C>T, XM_047417252.1:c.1038C>T, XM_047417246.1:c.1641C>T, XM_047417247.1:c.1641C>T, XM_047417253.1:c.1266C>T

                            14.

                            rs1485272759 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              5:103009788 (GRCh38)
                              5:102345492 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:103009787:G:T
                              Gene:
                              PAM (Varview)
                              Functional Consequence:
                              synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000005.10:g.103009788G>T, NC_000005.9:g.102345492G>T, NG_029444.2:g.260006G>T, NM_000919.4:c.2253G>T, NM_000919.3:c.2253G>T, NM_001364583.2:c.2253G>T, NM_001364583.1:c.2253G>T, NM_001364584.2:c.2253G>T, NM_001364584.1:c.2253G>T, NM_001364582.2:c.2253G>T, NM_001364582.1:c.2253G>T, NM_001364590.2:c.2025G>T, NM_001364590.1:c.2025G>T, NM_001364585.2:c.2253G>T, NM_001364585.1:c.2253G>T, NM_138766.2:c.2253G>T, NM_138822.2:c.2253G>T, NM_001364586.2:c.1932G>T, NM_001364586.1:c.1932G>T, NM_001364587.2:c.1932G>T, NM_001364587.1:c.1932G>T, NM_001364588.2:c.1932G>T, NM_001364588.1:c.1932G>T, NM_138821.2:c.1932G>T, NM_001364589.2:c.1932G>T, NM_001364589.1:c.1932G>T, NM_001364591.2:c.1986G>T, NM_001364591.1:c.1986G>T, NM_001364592.2:c.1986G>T, NM_001364592.1:c.1986G>T, NM_001364593.2:c.1932G>T, NM_001364593.1:c.1932G>T, NM_001364594.2:c.1932G>T, NM_001364594.1:c.1932G>T, NM_001177306.2:c.2253G>T, NM_001177306.1:c.2253G>T, NM_001319943.1:c.2307G>T, NR_033440.1:n.2568G>T, XM_011543419.4:c.2307G>T, XM_011543419.3:c.2307G>T, XM_011543419.2:c.2307G>T, XM_011543419.1:c.2307G>T, XM_017009495.3:c.2307G>T, XM_017009495.2:c.2307G>T, XM_017009495.1:c.2307G>T, XM_017009496.3:c.2307G>T, XM_017009496.2:c.2307G>T, XM_017009496.1:c.2307G>T, XM_017009502.3:c.2307G>T, XM_017009502.2:c.2307G>T, XM_017009502.1:c.2307G>T, XM_017009511.3:c.2307G>T, XM_017009511.2:c.2307G>T, XM_017009511.1:c.2307G>T, XM_017009497.3:c.2253G>T, XM_017009497.2:c.2253G>T, XM_017009497.1:c.2253G>T, XM_017009505.3:c.2253G>T, XM_017009505.2:c.2253G>T, XM_017009505.1:c.2253G>T, XM_017009507.3:c.1932G>T, XM_017009507.2:c.1932G>T, XM_017009507.1:c.1932G>T, XM_024446066.2:c.2307G>T, XM_024446066.1:c.2307G>T, XM_024446069.2:c.2307G>T, XM_024446069.1:c.2307G>T, XM_024446070.2:c.2253G>T, XM_024446070.1:c.2253G>T, XM_024446072.2:c.2307G>T, XM_024446072.1:c.2307G>T, XM_024446075.2:c.2307G>T, XM_024446075.1:c.2307G>T, XM_024446074.2:c.2253G>T, XM_024446074.1:c.2253G>T, XM_024446080.2:c.2307G>T, XM_024446080.1:c.2307G>T, XM_024446076.2:c.2253G>T, XM_024446076.1:c.2253G>T, XM_024446081.2:c.2307G>T, XM_024446081.1:c.2307G>T, XM_024446078.2:c.1932G>T, XM_024446078.1:c.1932G>T, XM_024446084.2:c.1932G>T, XM_024446084.1:c.1932G>T, XM_024446085.2:c.2079G>T, XM_024446085.1:c.2079G>T, XM_047417241.1:c.2307G>T, XM_047417242.1:c.2253G>T, XM_047417249.1:c.2253G>T, XM_047417250.1:c.2253G>T, XM_047417251.1:c.2253G>T, XM_047417245.1:c.1932G>T, XM_047417240.1:c.2253G>T, XM_047417254.1:c.1932G>T, XM_047417255.1:c.1932G>T, XM_047417256.1:c.1932G>T, XM_047417243.1:c.2253G>T, XM_047417244.1:c.1932G>T, XM_047417248.1:c.2025G>T, XM_047417252.1:c.1704G>T, XM_047417246.1:c.2307G>T, XM_047417247.1:c.2307G>T, XM_047417253.1:c.1932G>T

                              15.

                              rs1485111584 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                5:102990303 (GRCh38)
                                5:102326007 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:102990302:T:C
                                Gene:
                                PAM (Varview)
                                Functional Consequence:
                                synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000005.10:g.102990303T>C, NC_000005.9:g.102326007T>C, NG_029444.2:g.240521T>C, NM_000919.4:c.1515T>C, NM_000919.3:c.1515T>C, NM_001364583.2:c.1515T>C, NM_001364583.1:c.1515T>C, NM_001364584.2:c.1515T>C, NM_001364584.1:c.1515T>C, NM_001364582.2:c.1515T>C, NM_001364582.1:c.1515T>C, NM_001364590.2:c.1287T>C, NM_001364590.1:c.1287T>C, NM_001364585.2:c.1515T>C, NM_001364585.1:c.1515T>C, NM_138766.2:c.1515T>C, NM_138822.2:c.1515T>C, NM_001364586.2:c.1194T>C, NM_001364586.1:c.1194T>C, NM_001364587.2:c.1194T>C, NM_001364587.1:c.1194T>C, NM_001364588.2:c.1194T>C, NM_001364588.1:c.1194T>C, NM_138821.2:c.1194T>C, NM_001364589.2:c.1194T>C, NM_001364589.1:c.1194T>C, NM_001364591.2:c.1248T>C, NM_001364591.1:c.1248T>C, NM_001364592.2:c.1248T>C, NM_001364592.1:c.1248T>C, NM_001364593.2:c.1194T>C, NM_001364593.1:c.1194T>C, NM_001364594.2:c.1194T>C, NM_001364594.1:c.1194T>C, NM_001177306.2:c.1515T>C, NM_001177306.1:c.1515T>C, NM_001319943.1:c.1569T>C, NR_033440.1:n.1830T>C, XM_011543419.4:c.1569T>C, XM_011543419.3:c.1569T>C, XM_011543419.2:c.1569T>C, XM_011543419.1:c.1569T>C, XM_017009495.3:c.1569T>C, XM_017009495.2:c.1569T>C, XM_017009495.1:c.1569T>C, XM_017009496.3:c.1569T>C, XM_017009496.2:c.1569T>C, XM_017009496.1:c.1569T>C, XM_017009502.3:c.1569T>C, XM_017009502.2:c.1569T>C, XM_017009502.1:c.1569T>C, XM_017009511.3:c.1569T>C, XM_017009511.2:c.1569T>C, XM_017009511.1:c.1569T>C, XM_017009497.3:c.1515T>C, XM_017009497.2:c.1515T>C, XM_017009497.1:c.1515T>C, XM_017009505.3:c.1515T>C, XM_017009505.2:c.1515T>C, XM_017009505.1:c.1515T>C, XM_017009507.3:c.1194T>C, XM_017009507.2:c.1194T>C, XM_017009507.1:c.1194T>C, XM_024446066.2:c.1569T>C, XM_024446066.1:c.1569T>C, XM_024446069.2:c.1569T>C, XM_024446069.1:c.1569T>C, XM_024446070.2:c.1515T>C, XM_024446070.1:c.1515T>C, XM_024446072.2:c.1569T>C, XM_024446072.1:c.1569T>C, XM_024446075.2:c.1569T>C, XM_024446075.1:c.1569T>C, XM_024446074.2:c.1515T>C, XM_024446074.1:c.1515T>C, XM_024446080.2:c.1569T>C, XM_024446080.1:c.1569T>C, XM_024446076.2:c.1515T>C, XM_024446076.1:c.1515T>C, XM_024446081.2:c.1569T>C, XM_024446081.1:c.1569T>C, XM_024446078.2:c.1194T>C, XM_024446078.1:c.1194T>C, XM_024446084.2:c.1194T>C, XM_024446084.1:c.1194T>C, XM_024446085.2:c.1341T>C, XM_024446085.1:c.1341T>C, XM_047417241.1:c.1569T>C, XM_047417242.1:c.1515T>C, XM_047417249.1:c.1515T>C, XM_047417250.1:c.1515T>C, XM_047417251.1:c.1515T>C, XM_047417245.1:c.1194T>C, XM_047417240.1:c.1515T>C, XM_047417254.1:c.1194T>C, XM_047417255.1:c.1194T>C, XM_047417256.1:c.1194T>C, XM_047417243.1:c.1515T>C, XM_047417244.1:c.1194T>C, XM_047417248.1:c.1287T>C, XM_047417252.1:c.966T>C, XM_047417246.1:c.1569T>C, XM_047417247.1:c.1569T>C, XM_047417253.1:c.1194T>C

                                16.

                                rs1484468711 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  5:102949948 (GRCh38)
                                  5:102285652 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:102949947:G:A,NC_000005.10:102949947:G:T
                                  Gene:
                                  PAM (Varview)
                                  Functional Consequence:
                                  synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  A=0.000546/1 (Korea1K)
                                  HGVS:
                                  NC_000005.10:g.102949948G>A, NC_000005.10:g.102949948G>T, NC_000005.9:g.102285652G>A, NC_000005.9:g.102285652G>T, NG_029444.2:g.200166G>A, NG_029444.2:g.200166G>T, NM_000919.4:c.771G>A, NM_000919.4:c.771G>T, NM_000919.3:c.771G>A, NM_000919.3:c.771G>T, NM_001364583.2:c.771G>A, NM_001364583.2:c.771G>T, NM_001364583.1:c.771G>A, NM_001364583.1:c.771G>T, NM_001364584.2:c.771G>A, NM_001364584.2:c.771G>T, NM_001364584.1:c.771G>A, NM_001364584.1:c.771G>T, NM_001364582.2:c.771G>A, NM_001364582.2:c.771G>T, NM_001364582.1:c.771G>A, NM_001364582.1:c.771G>T, NM_001364590.2:c.543G>A, NM_001364590.2:c.543G>T, NM_001364590.1:c.543G>A, NM_001364590.1:c.543G>T, NM_001364585.2:c.771G>A, NM_001364585.2:c.771G>T, NM_001364585.1:c.771G>A, NM_001364585.1:c.771G>T, NM_138766.2:c.771G>A, NM_138766.2:c.771G>T, NM_138822.2:c.771G>A, NM_138822.2:c.771G>T, NM_001364586.2:c.771G>A, NM_001364586.2:c.771G>T, NM_001364586.1:c.771G>A, NM_001364586.1:c.771G>T, NM_001364587.2:c.771G>A, NM_001364587.2:c.771G>T, NM_001364587.1:c.771G>A, NM_001364587.1:c.771G>T, NM_001364588.2:c.771G>A, NM_001364588.2:c.771G>T, NM_001364588.1:c.771G>A, NM_001364588.1:c.771G>T, NM_138821.2:c.771G>A, NM_138821.2:c.771G>T, NM_001364589.2:c.771G>A, NM_001364589.2:c.771G>T, NM_001364589.1:c.771G>A, NM_001364589.1:c.771G>T, NM_001364591.2:c.771G>A, NM_001364591.2:c.771G>T, NM_001364591.1:c.771G>A, NM_001364591.1:c.771G>T, NM_001364592.2:c.771G>A, NM_001364592.2:c.771G>T, NM_001364592.1:c.771G>A, NM_001364592.1:c.771G>T, NM_001364593.2:c.771G>A, NM_001364593.2:c.771G>T, NM_001364593.1:c.771G>A, NM_001364593.1:c.771G>T, NM_001364594.2:c.771G>A, NM_001364594.2:c.771G>T, NM_001364594.1:c.771G>A, NM_001364594.1:c.771G>T, NM_001177306.2:c.771G>A, NM_001177306.2:c.771G>T, NM_001177306.1:c.771G>A, NM_001177306.1:c.771G>T, NM_001319943.1:c.771G>A, NM_001319943.1:c.771G>T, NR_033440.1:n.1086G>A, NR_033440.1:n.1086G>T, NR_157231.1:n.1255G>A, NR_157231.1:n.1255G>T, XM_011543419.4:c.771G>A, XM_011543419.4:c.771G>T, XM_011543419.3:c.771G>A, XM_011543419.3:c.771G>T, XM_011543419.2:c.771G>A, XM_011543419.2:c.771G>T, XM_011543419.1:c.771G>A, XM_011543419.1:c.771G>T, XM_017009495.3:c.771G>A, XM_017009495.3:c.771G>T, XM_017009495.2:c.771G>A, XM_017009495.2:c.771G>T, XM_017009495.1:c.771G>A, XM_017009495.1:c.771G>T, XM_017009496.3:c.771G>A, XM_017009496.3:c.771G>T, XM_017009496.2:c.771G>A, XM_017009496.2:c.771G>T, XM_017009496.1:c.771G>A, XM_017009496.1:c.771G>T, XM_017009502.3:c.771G>A, XM_017009502.3:c.771G>T, XM_017009502.2:c.771G>A, XM_017009502.2:c.771G>T, XM_017009502.1:c.771G>A, XM_017009502.1:c.771G>T, XM_017009511.3:c.771G>A, XM_017009511.3:c.771G>T, XM_017009511.2:c.771G>A, XM_017009511.2:c.771G>T, XM_017009511.1:c.771G>A, XM_017009511.1:c.771G>T, XM_017009497.3:c.771G>A, XM_017009497.3:c.771G>T, XM_017009497.2:c.771G>A, XM_017009497.2:c.771G>T, XM_017009497.1:c.771G>A, XM_017009497.1:c.771G>T, XM_017009505.3:c.771G>A, XM_017009505.3:c.771G>T, XM_017009505.2:c.771G>A, XM_017009505.2:c.771G>T, XM_017009505.1:c.771G>A, XM_017009505.1:c.771G>T, XM_017009507.3:c.771G>A, XM_017009507.3:c.771G>T, XM_017009507.2:c.771G>A, XM_017009507.2:c.771G>T, XM_017009507.1:c.771G>A, XM_017009507.1:c.771G>T, XM_024446066.2:c.771G>A, XM_024446066.2:c.771G>T, XM_024446066.1:c.771G>A, XM_024446066.1:c.771G>T, XM_024446069.2:c.771G>A, XM_024446069.2:c.771G>T, XM_024446069.1:c.771G>A, XM_024446069.1:c.771G>T, XM_024446070.2:c.771G>A, XM_024446070.2:c.771G>T, XM_024446070.1:c.771G>A, XM_024446070.1:c.771G>T, XM_024446072.2:c.771G>A, XM_024446072.2:c.771G>T, XM_024446072.1:c.771G>A, XM_024446072.1:c.771G>T, XM_024446075.2:c.771G>A, XM_024446075.2:c.771G>T, XM_024446075.1:c.771G>A, XM_024446075.1:c.771G>T, XM_024446074.2:c.771G>A, XM_024446074.2:c.771G>T, XM_024446074.1:c.771G>A, XM_024446074.1:c.771G>T, XM_024446080.2:c.771G>A, XM_024446080.2:c.771G>T, XM_024446080.1:c.771G>A, XM_024446080.1:c.771G>T, XM_024446076.2:c.771G>A, XM_024446076.2:c.771G>T, XM_024446076.1:c.771G>A, XM_024446076.1:c.771G>T, XM_024446081.2:c.771G>A, XM_024446081.2:c.771G>T, XM_024446081.1:c.771G>A, XM_024446081.1:c.771G>T, XM_024446078.2:c.771G>A, XM_024446078.2:c.771G>T, XM_024446078.1:c.771G>A, XM_024446078.1:c.771G>T, XM_024446084.2:c.771G>A, XM_024446084.2:c.771G>T, XM_024446084.1:c.771G>A, XM_024446084.1:c.771G>T, XM_024446085.2:c.543G>A, XM_024446085.2:c.543G>T, XM_024446085.1:c.543G>A, XM_024446085.1:c.543G>T, XM_047417241.1:c.771G>A, XM_047417241.1:c.771G>T, XM_047417242.1:c.771G>A, XM_047417242.1:c.771G>T, XM_047417249.1:c.771G>A, XM_047417249.1:c.771G>T, XM_047417250.1:c.771G>A, XM_047417250.1:c.771G>T, XM_047417251.1:c.771G>A, XM_047417251.1:c.771G>T, XM_047417245.1:c.771G>A, XM_047417245.1:c.771G>T, XM_047417240.1:c.771G>A, XM_047417240.1:c.771G>T, XM_047417254.1:c.771G>A, XM_047417254.1:c.771G>T, XM_047417255.1:c.771G>A, XM_047417255.1:c.771G>T, XM_047417256.1:c.771G>A, XM_047417256.1:c.771G>T, XM_047417243.1:c.771G>A, XM_047417243.1:c.771G>T, XM_047417244.1:c.771G>A, XM_047417244.1:c.771G>T, XM_047417248.1:c.543G>A, XM_047417248.1:c.543G>T, XM_047417252.1:c.543G>A, XM_047417252.1:c.543G>T, XM_047417246.1:c.771G>A, XM_047417246.1:c.771G>T, XM_047417247.1:c.771G>A, XM_047417247.1:c.771G>T, XM_047417253.1:c.771G>A, XM_047417253.1:c.771G>T

                                  17.

                                  rs1482885260 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    5:103007511 (GRCh38)
                                    5:102343215 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:103007510:C:T
                                    Gene:
                                    PAM (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    NC_000005.10:g.103007511C>T, NC_000005.9:g.102343215C>T, NG_029444.2:g.257729C>T, NM_000919.4:c.2069C>T, NM_000919.3:c.2069C>T, NM_001364583.2:c.2069C>T, NM_001364583.1:c.2069C>T, NM_001364584.2:c.2069C>T, NM_001364584.1:c.2069C>T, NM_001364582.2:c.2069C>T, NM_001364582.1:c.2069C>T, NM_001364590.2:c.1841C>T, NM_001364590.1:c.1841C>T, NM_001364585.2:c.2069C>T, NM_001364585.1:c.2069C>T, NM_138766.2:c.2069C>T, NM_138822.2:c.2069C>T, NM_001364586.2:c.1748C>T, NM_001364586.1:c.1748C>T, NM_001364587.2:c.1748C>T, NM_001364587.1:c.1748C>T, NM_001364588.2:c.1748C>T, NM_001364588.1:c.1748C>T, NM_138821.2:c.1748C>T, NM_001364589.2:c.1748C>T, NM_001364589.1:c.1748C>T, NM_001364591.2:c.1802C>T, NM_001364591.1:c.1802C>T, NM_001364592.2:c.1802C>T, NM_001364592.1:c.1802C>T, NM_001364593.2:c.1748C>T, NM_001364593.1:c.1748C>T, NM_001364594.2:c.1748C>T, NM_001364594.1:c.1748C>T, NM_001177306.2:c.2069C>T, NM_001177306.1:c.2069C>T, NM_001319943.1:c.2123C>T, NR_033440.1:n.2384C>T, XM_011543419.4:c.2123C>T, XM_011543419.3:c.2123C>T, XM_011543419.2:c.2123C>T, XM_011543419.1:c.2123C>T, XM_017009495.3:c.2123C>T, XM_017009495.2:c.2123C>T, XM_017009495.1:c.2123C>T, XM_017009496.3:c.2123C>T, XM_017009496.2:c.2123C>T, XM_017009496.1:c.2123C>T, XM_017009502.3:c.2123C>T, XM_017009502.2:c.2123C>T, XM_017009502.1:c.2123C>T, XM_017009511.3:c.2123C>T, XM_017009511.2:c.2123C>T, XM_017009511.1:c.2123C>T, XM_017009497.3:c.2069C>T, XM_017009497.2:c.2069C>T, XM_017009497.1:c.2069C>T, XM_017009505.3:c.2069C>T, XM_017009505.2:c.2069C>T, XM_017009505.1:c.2069C>T, XM_017009507.3:c.1748C>T, XM_017009507.2:c.1748C>T, XM_017009507.1:c.1748C>T, XM_024446066.2:c.2123C>T, XM_024446066.1:c.2123C>T, XM_024446069.2:c.2123C>T, XM_024446069.1:c.2123C>T, XM_024446070.2:c.2069C>T, XM_024446070.1:c.2069C>T, XM_024446072.2:c.2123C>T, XM_024446072.1:c.2123C>T, XM_024446075.2:c.2123C>T, XM_024446075.1:c.2123C>T, XM_024446074.2:c.2069C>T, XM_024446074.1:c.2069C>T, XM_024446080.2:c.2123C>T, XM_024446080.1:c.2123C>T, XM_024446076.2:c.2069C>T, XM_024446076.1:c.2069C>T, XM_024446081.2:c.2123C>T, XM_024446081.1:c.2123C>T, XM_024446078.2:c.1748C>T, XM_024446078.1:c.1748C>T, XM_024446084.2:c.1748C>T, XM_024446084.1:c.1748C>T, XM_024446085.2:c.1895C>T, XM_024446085.1:c.1895C>T, XM_047417241.1:c.2123C>T, XM_047417242.1:c.2069C>T, XM_047417249.1:c.2069C>T, XM_047417250.1:c.2069C>T, XM_047417251.1:c.2069C>T, XM_047417245.1:c.1748C>T, XM_047417240.1:c.2069C>T, XM_047417254.1:c.1748C>T, XM_047417255.1:c.1748C>T, XM_047417256.1:c.1748C>T, XM_047417243.1:c.2069C>T, XM_047417244.1:c.1748C>T, XM_047417248.1:c.1841C>T, XM_047417252.1:c.1520C>T, XM_047417246.1:c.2123C>T, XM_047417247.1:c.2123C>T, XM_047417253.1:c.1748C>T, NP_000910.2:p.Ala690Val, NP_001351512.1:p.Ala690Val, NP_001351513.1:p.Ala690Val, NP_001351511.1:p.Ala690Val, NP_001351519.1:p.Ala614Val, NP_001351514.1:p.Ala690Val, NP_620121.1:p.Ala690Val, NP_620177.1:p.Ala690Val, NP_001351515.1:p.Ala583Val, NP_001351516.1:p.Ala583Val, NP_001351517.1:p.Ala583Val, NP_620176.1:p.Ala583Val, NP_001351518.1:p.Ala583Val, NP_001351520.1:p.Ala601Val, NP_001351521.1:p.Ala601Val, NP_001351522.1:p.Ala583Val, NP_001351523.1:p.Ala583Val, NP_001170777.1:p.Ala690Val, NP_001306872.1:p.Ala708Val, XP_011541721.1:p.Ala708Val, XP_016864984.1:p.Ala708Val, XP_016864985.1:p.Ala708Val, XP_016864991.1:p.Ala708Val, XP_016865000.1:p.Ala708Val, XP_016864986.1:p.Ala690Val, XP_016864994.1:p.Ala690Val, XP_016864996.1:p.Ala583Val, XP_024301834.1:p.Ala708Val, XP_024301837.1:p.Ala708Val, XP_024301838.1:p.Ala690Val, XP_024301840.1:p.Ala708Val, XP_024301843.1:p.Ala708Val, XP_024301842.1:p.Ala690Val, XP_024301848.1:p.Ala708Val, XP_024301844.1:p.Ala690Val, XP_024301849.1:p.Ala708Val, XP_024301846.1:p.Ala583Val, XP_024301852.1:p.Ala583Val, XP_024301853.1:p.Ala632Val, XP_047273197.1:p.Ala708Val, XP_047273198.1:p.Ala690Val, XP_047273205.1:p.Ala690Val, XP_047273206.1:p.Ala690Val, XP_047273207.1:p.Ala690Val, XP_047273201.1:p.Ala583Val, XP_047273196.1:p.Ala690Val, XP_047273210.1:p.Ala583Val, XP_047273211.1:p.Ala583Val, XP_047273212.1:p.Ala583Val, XP_047273199.1:p.Ala690Val, XP_047273200.1:p.Ala583Val, XP_047273204.1:p.Ala614Val, XP_047273208.1:p.Ala507Val, XP_047273202.1:p.Ala708Val, XP_047273203.1:p.Ala708Val, XP_047273209.1:p.Ala583Val

                                    18.

                                    rs1482150734 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      5:103017381 (GRCh38)
                                      5:102353085 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:103017380:G:A
                                      Gene:
                                      PAM (Varview)
                                      Functional Consequence:
                                      intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000008/2 (TOPMED)
                                      A=0.000029/4 (GnomAD)
                                      HGVS:
                                      NC_000005.10:g.103017381G>A, NC_000005.9:g.102353085G>A, NG_029444.2:g.267599G>A, NM_000919.4:c.2379G>A, NM_000919.3:c.2379G>A, NM_001364583.2:c.2379G>A, NM_001364583.1:c.2379G>A, NM_001364584.2:c.2379G>A, NM_001364584.1:c.2379G>A, NM_001364582.2:c.2379G>A, NM_001364582.1:c.2379G>A, NM_001364590.2:c.2151G>A, NM_001364590.1:c.2151G>A, NM_001364585.2:c.2379G>A, NM_001364585.1:c.2379G>A, NM_138766.2:c.2379G>A, NM_138822.2:c.2379G>A, NM_001364586.2:c.2058G>A, NM_001364586.1:c.2058G>A, NM_001364587.2:c.2058G>A, NM_001364587.1:c.2058G>A, NM_001364588.2:c.2058G>A, NM_001364588.1:c.2058G>A, NM_138821.2:c.2058G>A, NM_001364589.2:c.2058G>A, NM_001364589.1:c.2058G>A, NM_001364591.2:c.2112G>A, NM_001364591.1:c.2112G>A, NM_001364592.2:c.2112G>A, NM_001364592.1:c.2112G>A, NM_001364593.2:c.2058G>A, NM_001364593.1:c.2058G>A, NM_001364594.2:c.2058G>A, NM_001364594.1:c.2058G>A, NM_001177306.2:c.2379G>A, NM_001177306.1:c.2379G>A, NM_001319943.1:c.2433G>A, NR_033440.1:n.2694G>A, XM_011543419.4:c.2433G>A, XM_011543419.3:c.2433G>A, XM_011543419.2:c.2433G>A, XM_011543419.1:c.2433G>A, XM_017009495.3:c.2433G>A, XM_017009495.2:c.2433G>A, XM_017009495.1:c.2433G>A, XM_017009496.3:c.2433G>A, XM_017009496.2:c.2433G>A, XM_017009496.1:c.2433G>A, XM_017009502.3:c.2433G>A, XM_017009502.2:c.2433G>A, XM_017009502.1:c.2433G>A, XM_017009497.3:c.2379G>A, XM_017009497.2:c.2379G>A, XM_017009497.1:c.2379G>A, XM_017009505.3:c.2379G>A, XM_017009505.2:c.2379G>A, XM_017009505.1:c.2379G>A, XM_017009507.3:c.2058G>A, XM_017009507.2:c.2058G>A, XM_017009507.1:c.2058G>A, XM_024446066.2:c.2433G>A, XM_024446066.1:c.2433G>A, XM_024446069.2:c.2433G>A, XM_024446069.1:c.2433G>A, XM_024446070.2:c.2379G>A, XM_024446070.1:c.2379G>A, XM_024446072.2:c.2433G>A, XM_024446072.1:c.2433G>A, XM_024446075.2:c.2433G>A, XM_024446075.1:c.2433G>A, XM_024446074.2:c.2379G>A, XM_024446074.1:c.2379G>A, XM_024446076.2:c.2379G>A, XM_024446076.1:c.2379G>A, XM_024446078.2:c.2058G>A, XM_024446078.1:c.2058G>A, XM_024446084.2:c.2058G>A, XM_024446084.1:c.2058G>A, XM_024446085.2:c.2205G>A, XM_024446085.1:c.2205G>A, XM_047417241.1:c.2433G>A, XM_047417242.1:c.2379G>A, XM_047417245.1:c.2058G>A, XM_047417240.1:c.2379G>A, XM_047417243.1:c.2379G>A, XM_047417244.1:c.2058G>A, XM_047417248.1:c.2151G>A, XM_047417252.1:c.1830G>A

                                      19.

                                      rs1481462544 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        5:102865908 (GRCh38)
                                        5:102201612 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:102865907:C:G
                                        Gene:
                                        PAM (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000005.10:g.102865908C>G, NC_000005.9:g.102201612C>G, NG_029444.2:g.116126C>G, NM_000919.4:c.-288C>G, NM_000919.3:c.-288C>G, NM_001364583.2:c.-288C>G, NM_001364583.1:c.-288C>G, NM_001364584.2:c.-288C>G, NM_001364584.1:c.-288C>G, NM_001364582.2:c.-288C>G, NM_001364582.1:c.-288C>G, NM_001364590.2:c.-583C>G, NM_001364590.1:c.-583C>G, NM_001364585.2:c.-288C>G, NM_001364585.1:c.-288C>G, NM_138766.2:c.-288C>G, NM_138822.2:c.-288C>G, NM_001364586.2:c.-288C>G, NM_001364586.1:c.-288C>G, NM_001364587.2:c.-288C>G, NM_001364587.1:c.-288C>G, NM_001364588.2:c.-288C>G, NM_001364588.1:c.-288C>G, NM_138821.2:c.-288C>G, NM_001364589.2:c.-288C>G, NM_001364589.1:c.-288C>G, NM_001364591.2:c.-288C>G, NM_001364591.1:c.-288C>G, NM_001364592.2:c.-288C>G, NM_001364592.1:c.-288C>G, NM_001364593.2:c.-288C>G, NM_001364593.1:c.-288C>G, NM_001364594.2:c.-288C>G, NM_001364594.1:c.-288C>G, NM_001177306.2:c.-288C>G, NM_001177306.1:c.-288C>G, NM_001319943.1:c.-288C>G, NR_033440.1:n.86C>G, NR_157231.1:n.130C>G, XM_011543419.4:c.-288C>G, XM_011543419.3:c.-288C>G, XM_011543419.2:c.-288C>G, XM_011543419.1:c.-288C>G, XM_017009495.3:c.-288C>G, XM_017009495.2:c.-288C>G, XM_017009495.1:c.-288C>G, XM_017009496.3:c.-288C>G, XM_017009496.2:c.-288C>G, XM_017009496.1:c.-288C>G, XM_017009502.3:c.-288C>G, XM_017009502.2:c.-288C>G, XM_017009502.1:c.-288C>G, XM_017009511.3:c.-288C>G, XM_017009511.2:c.-288C>G, XM_017009511.1:c.-288C>G, XM_017009497.3:c.-288C>G, XM_017009497.2:c.-288C>G, XM_017009497.1:c.-288C>G, XM_017009505.3:c.-288C>G, XM_017009505.2:c.-288C>G, XM_017009505.1:c.-288C>G, XM_017009507.3:c.-288C>G, XM_017009507.2:c.-288C>G, XM_017009507.1:c.-288C>G, XM_024446066.2:c.-288C>G, XM_024446066.1:c.-288C>G, XM_024446069.2:c.-288C>G, XM_024446069.1:c.-288C>G, XM_024446070.2:c.-288C>G, XM_024446070.1:c.-288C>G, XM_024446072.2:c.-288C>G, XM_024446072.1:c.-288C>G, XM_024446075.2:c.-288C>G, XM_024446075.1:c.-288C>G, XM_024446074.2:c.-288C>G, XM_024446074.1:c.-288C>G, XM_024446080.2:c.-288C>G, XM_024446080.1:c.-288C>G, XM_024446076.2:c.-288C>G, XM_024446076.1:c.-288C>G, XM_024446081.2:c.-288C>G, XM_024446081.1:c.-288C>G, XM_024446078.2:c.-288C>G, XM_024446078.1:c.-288C>G, XM_024446084.2:c.-288C>G, XM_024446084.1:c.-288C>G, XM_047417241.1:c.-288C>G, XM_047417242.1:c.-288C>G, XM_047417249.1:c.-288C>G, XM_047417250.1:c.-288C>G, XM_047417251.1:c.-288C>G, XM_047417245.1:c.-288C>G, XM_047417240.1:c.-288C>G, XM_047417254.1:c.-288C>G, XM_047417255.1:c.-288C>G, XM_047417256.1:c.-288C>G, XM_047417243.1:c.-288C>G, XM_047417244.1:c.-288C>G, XM_047417246.1:c.-288C>G, XM_047417247.1:c.-288C>G, XM_047417253.1:c.-288C>G

                                        20.

                                        rs1479245034 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          5:103029758 (GRCh38)
                                          5:102365462 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:103029757:T:C
                                          Gene:
                                          PAM (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000005.10:g.103029758T>C, NC_000005.9:g.102365462T>C, NG_029444.2:g.279976T>C, NM_000919.3:c.*693T>C, NM_001364583.2:c.*693T>C, NM_001364583.1:c.*693T>C, NM_001364584.2:c.*693T>C, NM_001364584.1:c.*693T>C, NM_001364582.2:c.*693T>C, NM_001364582.1:c.*693T>C, NM_001364590.2:c.*693T>C, NM_001364590.1:c.*693T>C, NM_001364585.2:c.*693T>C, NM_001364585.1:c.*693T>C, NM_138766.2:c.*693T>C, NM_138822.2:c.*693T>C, NM_001364586.2:c.*693T>C, NM_001364586.1:c.*693T>C, NM_001364587.2:c.*693T>C, NM_001364587.1:c.*693T>C, NM_001364588.2:c.*693T>C, NM_001364588.1:c.*693T>C, NM_138821.2:c.*693T>C, NM_001364589.2:c.*693T>C, NM_001364589.1:c.*693T>C, NM_001364591.2:c.*693T>C, NM_001364591.1:c.*693T>C, NM_001364592.2:c.*693T>C, NM_001364592.1:c.*693T>C, NM_001364593.2:c.*693T>C, NM_001364593.1:c.*693T>C, NM_001364594.2:c.*693T>C, NM_001364594.1:c.*693T>C, NM_001319943.1:c.*693T>C, NR_033440.1:n.3927T>C, XM_011543419.4:c.*693T>C, XM_017009495.3:c.*693T>C, XM_017009496.3:c.*693T>C, XM_017009502.3:c.*693T>C, XM_017009511.3:c.*851T>C, XM_017009497.3:c.*693T>C, XM_017009505.3:c.*693T>C, XM_017009507.3:c.*693T>C, XM_024446066.2:c.*693T>C, XM_024446069.2:c.*693T>C, XM_024446070.2:c.*693T>C, XM_024446072.2:c.*693T>C, XM_024446075.2:c.*693T>C, XM_024446074.2:c.*693T>C, XM_024446080.2:c.*851T>C, XM_024446076.2:c.*693T>C, XM_024446081.2:c.*851T>C, XM_024446078.2:c.*693T>C, XM_024446084.2:c.*693T>C, XM_024446085.2:c.*693T>C, XM_047417241.1:c.*693T>C, XM_047417242.1:c.*693T>C, XM_047417249.1:c.*851T>C, XM_047417250.1:c.*851T>C, XM_047417251.1:c.*851T>C, XM_047417245.1:c.*693T>C, XM_047417240.1:c.*693T>C, NM_001177306.1:c.*693T>C, XM_047417254.1:c.*851T>C, XM_047417255.1:c.*851T>C, XM_047417256.1:c.*851T>C, XM_047417243.1:c.*693T>C, XM_047417244.1:c.*693T>C, XM_047417248.1:c.*693T>C, XM_047417252.1:c.*693T>C

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