U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 899

1.

rs1488375395 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    8:47595964 (GRCh38)
    8:48508526 (GRCh37)
    Canonical SPDI:
    NC_000008.11:47595963:G:A
    Gene:
    SPIDR (Varview)
    Functional Consequence:
    non_coding_transcript_variant,initiator_codon_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000008.11:g.47595964G>A, NC_000008.10:g.48508526G>A, XM_011517497.4:c.1251G>A, XM_011517497.3:c.1251G>A, XM_011517497.2:c.1251G>A, XM_011517497.1:c.1251G>A, NM_001080394.4:c.1251G>A, NM_001080394.3:c.1251G>A, NM_001080394.2:c.1251G>A, XM_017013271.3:c.1071G>A, XM_017013271.2:c.1071G>A, XM_017013271.1:c.1071G>A, XM_017013268.3:c.1251G>A, XM_017013268.2:c.1251G>A, XM_017013268.1:c.1251G>A, XM_017013269.3:c.1251G>A, XM_017013269.2:c.1251G>A, XM_017013269.1:c.1251G>A, XM_017013270.3:c.1131G>A, XM_017013270.2:c.1131G>A, XM_017013270.1:c.1131G>A, XM_017013273.2:c.780G>A, XM_017013273.1:c.780G>A, XM_047421640.1:c.1071G>A, XM_047421638.1:c.1251G>A, NR_148202.1:n.1332G>A, NM_001352949.1:c.594G>A, NM_001352958.1:c.3G>A, XM_047421643.1:c.1251G>A, NM_001352931.1:c.1251G>A, XM_047421644.1:c.1131G>A, NR_148204.1:n.1332G>A, NM_001352935.1:c.1041G>A, XM_047421641.1:c.1251G>A, NM_001282919.1:c.1071G>A, NM_001352933.1:c.1071G>A, NM_001282916.1:c.1041G>A, XM_047421642.1:c.1131G>A, NR_148205.1:n.1332G>A, XM_047421646.1:c.753G>A, NM_001352932.1:c.1131G>A, XM_047421645.1:c.759G>A, NR_148203.1:n.1295G>A, XM_047421647.1:c.594G>A, NM_001352940.1:c.759G>A, NM_001352934.1:c.1251G>A, NM_001352951.1:c.501G>A, NM_001352938.1:c.759G>A, NM_001352937.1:c.1071G>A, NM_001352942.1:c.594G>A, NM_001352939.1:c.759G>A, NM_001352947.1:c.501G>A, NM_001352948.1:c.501G>A, NM_001352961.1:c.1251G>A, NM_001352946.1:c.501G>A, NM_001352936.1:c.1041G>A, NM_001352950.1:c.759G>A, NM_001352955.1:c.318G>A, XM_047421648.1:c.501G>A, NM_001352952.1:c.318G>A, NM_001352953.1:c.318G>A, NM_001352943.1:c.759G>A, NM_001352956.1:c.318G>A, NM_001352941.1:c.735G>A, NM_001352957.1:c.318G>A, NM_001352945.1:c.525G>A, XM_047421649.1:c.318G>A, NR_104581.1:n.980G>A, XM_047421639.1:c.1251G>A, XM_047421651.1:c.3G>A, NM_001352944.1:c.735G>A, XM_047421650.1:c.759G>A, XM_047421652.1:c.3G>A, XP_011515799.1:p.Met417Ile, NP_001073863.1:p.Met417Ile, XP_016868760.1:p.Met357Ile, XP_016868757.1:p.Met417Ile, XP_016868758.1:p.Met417Ile, XP_016868759.1:p.Met377Ile, XP_016868762.1:p.Met260Ile, XP_047277596.1:p.Met357Ile, XP_047277594.1:p.Met417Ile, NP_001339878.1:p.Met198Ile, NP_001339887.1:p.Met1Ile, XP_047277599.1:p.Met417Ile, NP_001339860.1:p.Met417Ile, XP_047277600.1:p.Met377Ile, NP_001339864.1:p.Met347Ile, XP_047277597.1:p.Met417Ile, NP_001269848.1:p.Met357Ile, NP_001339862.1:p.Met357Ile, NP_001269845.1:p.Met347Ile, XP_047277598.1:p.Met377Ile, XP_047277602.1:p.Met251Ile, NP_001339861.1:p.Met377Ile, XP_047277601.1:p.Met253Ile, XP_047277603.1:p.Met198Ile, NP_001339869.1:p.Met253Ile, NP_001339863.1:p.Met417Ile, NP_001339880.1:p.Met167Ile, NP_001339867.1:p.Met253Ile, NP_001339866.1:p.Met357Ile, NP_001339871.1:p.Met198Ile, NP_001339868.1:p.Met253Ile, NP_001339876.1:p.Met167Ile, NP_001339877.1:p.Met167Ile, NP_001339890.1:p.Met417Ile, NP_001339875.1:p.Met167Ile, NP_001339865.1:p.Met347Ile, NP_001339879.1:p.Met253Ile, NP_001339884.1:p.Met106Ile, XP_047277604.1:p.Met167Ile, NP_001339881.1:p.Met106Ile, NP_001339882.1:p.Met106Ile, NP_001339872.1:p.Met253Ile, NP_001339885.1:p.Met106Ile, NP_001339870.1:p.Met245Ile, NP_001339886.1:p.Met106Ile, NP_001339874.1:p.Met175Ile, XP_047277605.1:p.Met106Ile, XP_047277595.1:p.Met417Ile, XP_047277607.1:p.Met1Ile, NP_001339873.1:p.Met245Ile, XP_047277606.1:p.Met253Ile, XP_047277608.1:p.Met1Ile

    2.

    rs1487867197 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      8:47713524 (GRCh38)
      8:48626086 (GRCh37)
      Canonical SPDI:
      NC_000008.11:47713523:C:T
      Gene:
      SPIDR (Varview)
      Functional Consequence:
      missense_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
      HGVS:
      NC_000008.11:g.47713524C>T, NC_000008.10:g.48626086C>T, XM_011517497.4:c.2224C>T, XM_011517497.3:c.2224C>T, XM_011517497.2:c.2224C>T, XM_011517497.1:c.2224C>T, NM_001080394.4:c.2224C>T, NM_001080394.3:c.2224C>T, NM_001080394.2:c.2224C>T, XM_017013271.3:c.2044C>T, XM_017013271.2:c.2044C>T, XM_017013271.1:c.2044C>T, XM_017013268.3:c.2224C>T, XM_017013268.2:c.2224C>T, XM_017013268.1:c.2224C>T, XM_017013269.3:c.2164C>T, XM_017013269.2:c.2164C>T, XM_017013269.1:c.2164C>T, XM_017013270.3:c.2104C>T, XM_017013270.2:c.2104C>T, XM_017013270.1:c.2104C>T, XM_017013273.2:c.1753C>T, XM_017013273.1:c.1753C>T, XM_047421640.1:c.2044C>T, XM_047421638.1:c.2164C>T, NR_148202.1:n.2427C>T, NM_001352949.1:c.1567C>T, NM_001352958.1:c.976C>T, XM_047421643.1:c.2164C>T, NM_001352931.1:c.2224C>T, XM_047421644.1:c.2104C>T, NR_148204.1:n.2300C>T, NM_001352935.1:c.2014C>T, XM_047421641.1:c.2164C>T, NM_001282919.1:c.2044C>T, NM_001352933.1:c.2044C>T, NM_001282916.1:c.2014C>T, XM_047421642.1:c.2104C>T, NR_148205.1:n.2305C>T, XM_047421646.1:c.1726C>T, NM_001352932.1:c.2104C>T, XM_047421645.1:c.1732C>T, NR_148203.1:n.2268C>T, XM_047421647.1:c.1567C>T, NM_001352940.1:c.1732C>T, NM_001352934.1:c.2224C>T, NM_001352951.1:c.1474C>T, NM_001352938.1:c.1732C>T, NM_001352937.1:c.2044C>T, NM_001352942.1:c.1567C>T, NM_001352939.1:c.1732C>T, NM_001352947.1:c.1474C>T, NM_001352948.1:c.1474C>T, NM_001352961.1:c.2224C>T, NM_001352946.1:c.1474C>T, NM_001352936.1:c.2014C>T, NM_001352950.1:c.1732C>T, NM_001352955.1:c.1291C>T, XM_047421648.1:c.1474C>T, NM_001352952.1:c.1291C>T, NM_001352953.1:c.1291C>T, NM_001352943.1:c.1732C>T, NM_001352956.1:c.1291C>T, NM_001352941.1:c.1708C>T, NM_001352957.1:c.1291C>T, NM_001352945.1:c.1498C>T, XM_047421649.1:c.1291C>T, NR_104581.1:n.1702C>T, XM_047421639.1:c.2224C>T, XM_047421651.1:c.976C>T, NM_001352944.1:c.1708C>T, XM_047421650.1:c.*626C>T, XM_047421652.1:c.976C>T, NM_001352960.1:c.649C>T, NM_001352959.1:c.739C>T, XP_011515799.1:p.Leu742Phe, NP_001073863.1:p.Leu742Phe, XP_016868760.1:p.Leu682Phe, XP_016868757.1:p.Leu742Phe, XP_016868758.1:p.Leu722Phe, XP_016868759.1:p.Leu702Phe, XP_016868762.1:p.Leu585Phe, XP_047277596.1:p.Leu682Phe, XP_047277594.1:p.Leu722Phe, NP_001339878.1:p.Leu523Phe, NP_001339887.1:p.Leu326Phe, XP_047277599.1:p.Leu722Phe, NP_001339860.1:p.Leu742Phe, XP_047277600.1:p.Leu702Phe, NP_001339864.1:p.Leu672Phe, XP_047277597.1:p.Leu722Phe, NP_001269848.1:p.Leu682Phe, NP_001339862.1:p.Leu682Phe, NP_001269845.1:p.Leu672Phe, XP_047277598.1:p.Leu702Phe, XP_047277602.1:p.Leu576Phe, NP_001339861.1:p.Leu702Phe, XP_047277601.1:p.Leu578Phe, XP_047277603.1:p.Leu523Phe, NP_001339869.1:p.Leu578Phe, NP_001339863.1:p.Leu742Phe, NP_001339880.1:p.Leu492Phe, NP_001339867.1:p.Leu578Phe, NP_001339866.1:p.Leu682Phe, NP_001339871.1:p.Leu523Phe, NP_001339868.1:p.Leu578Phe, NP_001339876.1:p.Leu492Phe, NP_001339877.1:p.Leu492Phe, NP_001339890.1:p.Leu742Phe, NP_001339875.1:p.Leu492Phe, NP_001339865.1:p.Leu672Phe, NP_001339879.1:p.Leu578Phe, NP_001339884.1:p.Leu431Phe, XP_047277604.1:p.Leu492Phe, NP_001339881.1:p.Leu431Phe, NP_001339882.1:p.Leu431Phe, NP_001339872.1:p.Leu578Phe, NP_001339885.1:p.Leu431Phe, NP_001339870.1:p.Leu570Phe, NP_001339886.1:p.Leu431Phe, NP_001339874.1:p.Leu500Phe, XP_047277605.1:p.Leu431Phe, XP_047277595.1:p.Leu742Phe, XP_047277607.1:p.Leu326Phe, NP_001339873.1:p.Leu570Phe, XP_047277608.1:p.Leu326Phe, NP_001339889.1:p.Leu217Phe, NP_001339888.1:p.Leu247Phe

      3.

      rs1486437212 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        8:47595945 (GRCh38)
        8:48508507 (GRCh37)
        Canonical SPDI:
        NC_000008.11:47595944:G:T
        Gene:
        SPIDR (Varview)
        Functional Consequence:
        non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_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_000008.11:g.47595945G>T, NC_000008.10:g.48508507G>T, XM_011517497.4:c.1232G>T, XM_011517497.3:c.1232G>T, XM_011517497.2:c.1232G>T, XM_011517497.1:c.1232G>T, NM_001080394.4:c.1232G>T, NM_001080394.3:c.1232G>T, NM_001080394.2:c.1232G>T, XM_017013271.3:c.1052G>T, XM_017013271.2:c.1052G>T, XM_017013271.1:c.1052G>T, XM_017013268.3:c.1232G>T, XM_017013268.2:c.1232G>T, XM_017013268.1:c.1232G>T, XM_017013269.3:c.1232G>T, XM_017013269.2:c.1232G>T, XM_017013269.1:c.1232G>T, XM_017013270.3:c.1112G>T, XM_017013270.2:c.1112G>T, XM_017013270.1:c.1112G>T, XM_017013273.2:c.761G>T, XM_017013273.1:c.761G>T, XM_047421640.1:c.1052G>T, XM_047421638.1:c.1232G>T, NR_148202.1:n.1313G>T, NM_001352949.1:c.575G>T, NM_001352958.1:c.-17G>T, XM_047421643.1:c.1232G>T, NM_001352931.1:c.1232G>T, XM_047421644.1:c.1112G>T, NR_148204.1:n.1313G>T, NM_001352935.1:c.1022G>T, XM_047421641.1:c.1232G>T, NM_001282919.1:c.1052G>T, NM_001352933.1:c.1052G>T, NM_001282916.1:c.1022G>T, XM_047421642.1:c.1112G>T, NR_148205.1:n.1313G>T, XM_047421646.1:c.734G>T, NM_001352932.1:c.1112G>T, XM_047421645.1:c.740G>T, NR_148203.1:n.1276G>T, XM_047421647.1:c.575G>T, NM_001352940.1:c.740G>T, NM_001352934.1:c.1232G>T, NM_001352951.1:c.482G>T, NM_001352938.1:c.740G>T, NM_001352937.1:c.1052G>T, NM_001352942.1:c.575G>T, NM_001352939.1:c.740G>T, NM_001352947.1:c.482G>T, NM_001352948.1:c.482G>T, NM_001352961.1:c.1232G>T, NM_001352946.1:c.482G>T, NM_001352936.1:c.1022G>T, NM_001352950.1:c.740G>T, NM_001352955.1:c.299G>T, XM_047421648.1:c.482G>T, NM_001352952.1:c.299G>T, NM_001352953.1:c.299G>T, NM_001352943.1:c.740G>T, NM_001352956.1:c.299G>T, NM_001352941.1:c.716G>T, NM_001352957.1:c.299G>T, NM_001352945.1:c.506G>T, XM_047421649.1:c.299G>T, NR_104581.1:n.961G>T, XM_047421639.1:c.1232G>T, XM_047421651.1:c.-17G>T, NM_001352944.1:c.716G>T, XM_047421650.1:c.740G>T, XM_047421652.1:c.-17G>T, XP_011515799.1:p.Ser411Ile, NP_001073863.1:p.Ser411Ile, XP_016868760.1:p.Ser351Ile, XP_016868757.1:p.Ser411Ile, XP_016868758.1:p.Ser411Ile, XP_016868759.1:p.Ser371Ile, XP_016868762.1:p.Ser254Ile, XP_047277596.1:p.Ser351Ile, XP_047277594.1:p.Ser411Ile, NP_001339878.1:p.Ser192Ile, XP_047277599.1:p.Ser411Ile, NP_001339860.1:p.Ser411Ile, XP_047277600.1:p.Ser371Ile, NP_001339864.1:p.Ser341Ile, XP_047277597.1:p.Ser411Ile, NP_001269848.1:p.Ser351Ile, NP_001339862.1:p.Ser351Ile, NP_001269845.1:p.Ser341Ile, XP_047277598.1:p.Ser371Ile, XP_047277602.1:p.Ser245Ile, NP_001339861.1:p.Ser371Ile, XP_047277601.1:p.Ser247Ile, XP_047277603.1:p.Ser192Ile, NP_001339869.1:p.Ser247Ile, NP_001339863.1:p.Ser411Ile, NP_001339880.1:p.Ser161Ile, NP_001339867.1:p.Ser247Ile, NP_001339866.1:p.Ser351Ile, NP_001339871.1:p.Ser192Ile, NP_001339868.1:p.Ser247Ile, NP_001339876.1:p.Ser161Ile, NP_001339877.1:p.Ser161Ile, NP_001339890.1:p.Ser411Ile, NP_001339875.1:p.Ser161Ile, NP_001339865.1:p.Ser341Ile, NP_001339879.1:p.Ser247Ile, NP_001339884.1:p.Ser100Ile, XP_047277604.1:p.Ser161Ile, NP_001339881.1:p.Ser100Ile, NP_001339882.1:p.Ser100Ile, NP_001339872.1:p.Ser247Ile, NP_001339885.1:p.Ser100Ile, NP_001339870.1:p.Ser239Ile, NP_001339886.1:p.Ser100Ile, NP_001339874.1:p.Ser169Ile, XP_047277605.1:p.Ser100Ile, XP_047277595.1:p.Ser411Ile, NP_001339873.1:p.Ser239Ile, XP_047277606.1:p.Ser247Ile

        4.

        rs1486159220 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C,G [Show Flanks]
          Chromosome:
          8:47440448 (GRCh38)
          8:48353010 (GRCh37)
          Canonical SPDI:
          NC_000008.11:47440447:A:C,NC_000008.11:47440447:A:G
          Gene:
          SPIDR (Varview)
          Functional Consequence:
          missense_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000008/2 (TOPMED)
          C=0.004367/8 (Korea1K)
          HGVS:
          NC_000008.11:g.47440448A>C, NC_000008.11:g.47440448A>G, NC_000008.10:g.48353010A>C, NC_000008.10:g.48353010A>G, NW_004775431.1:g.176606A>C, NW_004775431.1:g.176606A>G, XM_011517497.4:c.1003A>C, XM_011517497.4:c.1003A>G, XM_011517497.3:c.1003A>C, XM_011517497.3:c.1003A>G, XM_011517497.2:c.1003A>C, XM_011517497.2:c.1003A>G, XM_011517497.1:c.1003A>C, XM_011517497.1:c.1003A>G, NM_001080394.4:c.1003A>C, NM_001080394.4:c.1003A>G, NM_001080394.3:c.1003A>C, NM_001080394.3:c.1003A>G, NM_001080394.2:c.1003A>C, NM_001080394.2:c.1003A>G, XM_017013271.3:c.823A>C, XM_017013271.3:c.823A>G, XM_017013271.2:c.823A>C, XM_017013271.2:c.823A>G, XM_017013271.1:c.823A>C, XM_017013271.1:c.823A>G, XM_017013268.3:c.1003A>C, XM_017013268.3:c.1003A>G, XM_017013268.2:c.1003A>C, XM_017013268.2:c.1003A>G, XM_017013268.1:c.1003A>C, XM_017013268.1:c.1003A>G, XM_017013269.3:c.1003A>C, XM_017013269.3:c.1003A>G, XM_017013269.2:c.1003A>C, XM_017013269.2:c.1003A>G, XM_017013269.1:c.1003A>C, XM_017013269.1:c.1003A>G, XM_017013270.3:c.883A>C, XM_017013270.3:c.883A>G, XM_017013270.2:c.883A>C, XM_017013270.2:c.883A>G, XM_017013270.1:c.883A>C, XM_017013270.1:c.883A>G, XM_047421640.1:c.823A>C, XM_047421640.1:c.823A>G, XM_047421638.1:c.1003A>C, XM_047421638.1:c.1003A>G, NR_148202.1:n.1084A>C, NR_148202.1:n.1084A>G, NM_001352949.1:c.346A>C, NM_001352949.1:c.346A>G, NM_001352958.1:c.-281A>C, NM_001352958.1:c.-281A>G, XM_047421643.1:c.1003A>C, XM_047421643.1:c.1003A>G, NM_001352931.1:c.1003A>C, NM_001352931.1:c.1003A>G, XM_047421644.1:c.883A>C, XM_047421644.1:c.883A>G, NR_148204.1:n.1084A>C, NR_148204.1:n.1084A>G, NM_001352935.1:c.793A>C, NM_001352935.1:c.793A>G, XM_047421641.1:c.1003A>C, XM_047421641.1:c.1003A>G, NM_001282919.1:c.823A>C, NM_001282919.1:c.823A>G, NM_001352933.1:c.823A>C, NM_001352933.1:c.823A>G, NM_001282916.1:c.793A>C, NM_001282916.1:c.793A>G, XM_047421642.1:c.883A>C, XM_047421642.1:c.883A>G, NR_148205.1:n.1084A>C, NR_148205.1:n.1084A>G, XM_047421646.1:c.505A>C, XM_047421646.1:c.505A>G, NM_001352932.1:c.883A>C, NM_001352932.1:c.883A>G, XM_047421645.1:c.511A>C, XM_047421645.1:c.511A>G, NR_148203.1:n.1047A>C, NR_148203.1:n.1047A>G, XM_047421647.1:c.346A>C, XM_047421647.1:c.346A>G, NM_001352940.1:c.511A>C, NM_001352940.1:c.511A>G, NM_001352934.1:c.1003A>C, NM_001352934.1:c.1003A>G, NM_001352951.1:c.253A>C, NM_001352951.1:c.253A>G, NM_001352938.1:c.511A>C, NM_001352938.1:c.511A>G, NM_001352937.1:c.823A>C, NM_001352937.1:c.823A>G, NM_001352942.1:c.346A>C, NM_001352942.1:c.346A>G, NM_001352939.1:c.511A>C, NM_001352939.1:c.511A>G, NM_001352947.1:c.253A>C, NM_001352947.1:c.253A>G, NM_001352948.1:c.253A>C, NM_001352948.1:c.253A>G, NM_001352961.1:c.1003A>C, NM_001352961.1:c.1003A>G, NM_001352946.1:c.253A>C, NM_001352946.1:c.253A>G, NM_001352936.1:c.793A>C, NM_001352936.1:c.793A>G, NM_001352950.1:c.511A>C, NM_001352950.1:c.511A>G, NM_001352955.1:c.70A>C, NM_001352955.1:c.70A>G, XM_047421648.1:c.253A>C, XM_047421648.1:c.253A>G, NM_001352952.1:c.70A>C, NM_001352952.1:c.70A>G, NM_001352953.1:c.70A>C, NM_001352953.1:c.70A>G, NM_001352943.1:c.511A>C, NM_001352943.1:c.511A>G, NM_001352956.1:c.70A>C, NM_001352956.1:c.70A>G, NM_001352941.1:c.487A>C, NM_001352941.1:c.487A>G, NM_001352957.1:c.70A>C, NM_001352957.1:c.70A>G, NM_001352945.1:c.277A>C, NM_001352945.1:c.277A>G, XM_047421649.1:c.70A>C, XM_047421649.1:c.70A>G, NR_104581.1:n.732A>C, NR_104581.1:n.732A>G, XM_047421639.1:c.1003A>C, XM_047421639.1:c.1003A>G, NM_001352944.1:c.487A>C, NM_001352944.1:c.487A>G, XM_047421650.1:c.511A>C, XM_047421650.1:c.511A>G, XP_011515799.1:p.Arg335Gly, NP_001073863.1:p.Arg335Gly, XP_016868760.1:p.Arg275Gly, XP_016868757.1:p.Arg335Gly, XP_016868758.1:p.Arg335Gly, XP_016868759.1:p.Arg295Gly, XP_047277596.1:p.Arg275Gly, XP_047277594.1:p.Arg335Gly, NP_001339878.1:p.Arg116Gly, XP_047277599.1:p.Arg335Gly, NP_001339860.1:p.Arg335Gly, XP_047277600.1:p.Arg295Gly, NP_001339864.1:p.Arg265Gly, XP_047277597.1:p.Arg335Gly, NP_001269848.1:p.Arg275Gly, NP_001339862.1:p.Arg275Gly, NP_001269845.1:p.Arg265Gly, XP_047277598.1:p.Arg295Gly, XP_047277602.1:p.Arg169Gly, NP_001339861.1:p.Arg295Gly, XP_047277601.1:p.Arg171Gly, XP_047277603.1:p.Arg116Gly, NP_001339869.1:p.Arg171Gly, NP_001339863.1:p.Arg335Gly, NP_001339880.1:p.Arg85Gly, NP_001339867.1:p.Arg171Gly, NP_001339866.1:p.Arg275Gly, NP_001339871.1:p.Arg116Gly, NP_001339868.1:p.Arg171Gly, NP_001339876.1:p.Arg85Gly, NP_001339877.1:p.Arg85Gly, NP_001339890.1:p.Arg335Gly, NP_001339875.1:p.Arg85Gly, NP_001339865.1:p.Arg265Gly, NP_001339879.1:p.Arg171Gly, NP_001339884.1:p.Arg24Gly, XP_047277604.1:p.Arg85Gly, NP_001339881.1:p.Arg24Gly, NP_001339882.1:p.Arg24Gly, NP_001339872.1:p.Arg171Gly, NP_001339885.1:p.Arg24Gly, NP_001339870.1:p.Arg163Gly, NP_001339886.1:p.Arg24Gly, NP_001339874.1:p.Arg93Gly, XP_047277605.1:p.Arg24Gly, XP_047277595.1:p.Arg335Gly, NP_001339873.1:p.Arg163Gly, XP_047277606.1:p.Arg171Gly

          5.

          rs1482366478 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            8:47598990 (GRCh38)
            8:48511552 (GRCh37)
            Canonical SPDI:
            NC_000008.11:47598989:T:C
            Gene:
            SPIDR (Varview)
            Functional Consequence:
            synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency,by cluster
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000008.11:g.47598990T>C, NC_000008.10:g.48511552T>C, XM_011517497.4:c.1338T>C, XM_011517497.3:c.1338T>C, XM_011517497.2:c.1338T>C, XM_011517497.1:c.1338T>C, NM_001080394.4:c.1338T>C, NM_001080394.3:c.1338T>C, NM_001080394.2:c.1338T>C, XM_017013271.3:c.1158T>C, XM_017013271.2:c.1158T>C, XM_017013271.1:c.1158T>C, XM_017013268.3:c.1338T>C, XM_017013268.2:c.1338T>C, XM_017013268.1:c.1338T>C, XM_017013269.3:c.1338T>C, XM_017013269.2:c.1338T>C, XM_017013269.1:c.1338T>C, XM_017013270.3:c.1218T>C, XM_017013270.2:c.1218T>C, XM_017013270.1:c.1218T>C, XM_017013273.2:c.867T>C, XM_017013273.1:c.867T>C, XM_047421640.1:c.1158T>C, XM_047421638.1:c.1338T>C, NR_148202.1:n.1419T>C, NM_001352949.1:c.681T>C, NM_001352958.1:c.90T>C, XM_047421643.1:c.1338T>C, NM_001352931.1:c.1338T>C, XM_047421644.1:c.1218T>C, NR_148204.1:n.1419T>C, NM_001352935.1:c.1128T>C, XM_047421641.1:c.1338T>C, NM_001282919.1:c.1158T>C, NM_001352933.1:c.1158T>C, NM_001282916.1:c.1128T>C, XM_047421642.1:c.1218T>C, NR_148205.1:n.1419T>C, XM_047421646.1:c.840T>C, NM_001352932.1:c.1218T>C, XM_047421645.1:c.846T>C, NR_148203.1:n.1382T>C, XM_047421647.1:c.681T>C, NM_001352940.1:c.846T>C, NM_001352934.1:c.1338T>C, NM_001352951.1:c.588T>C, NM_001352938.1:c.846T>C, NM_001352937.1:c.1158T>C, NM_001352942.1:c.681T>C, NM_001352939.1:c.846T>C, NM_001352947.1:c.588T>C, NM_001352948.1:c.588T>C, NM_001352961.1:c.1338T>C, NM_001352946.1:c.588T>C, NM_001352936.1:c.1128T>C, NM_001352950.1:c.846T>C, NM_001352955.1:c.405T>C, XM_047421648.1:c.588T>C, NM_001352952.1:c.405T>C, NM_001352953.1:c.405T>C, NM_001352943.1:c.846T>C, NM_001352956.1:c.405T>C, NM_001352941.1:c.822T>C, NM_001352957.1:c.405T>C, NM_001352945.1:c.612T>C, XM_047421649.1:c.405T>C, XM_047421639.1:c.1338T>C, XM_047421651.1:c.90T>C, NM_001352944.1:c.822T>C, XM_047421650.1:c.846T>C, XM_047421652.1:c.90T>C

            6.

            rs1482345796 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              8:47293996 (GRCh38)
              8:48206585 (GRCh37)
              Canonical SPDI:
              NC_000008.11:47293995:T:C
              Gene:
              SPIDR (Varview)
              Functional Consequence:
              missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              C=0.000008/2 (TOPMED)
              HGVS:
              NC_000008.11:g.47293996T>C, NW_004775431.1:g.30154T>C, NT_113909.1:g.12926A>G, NC_000008.10:g.48206585T>C, XM_011517497.4:c.491T>C, XM_011517497.3:c.491T>C, XM_011517497.2:c.491T>C, XM_011517497.1:c.491T>C, NM_001080394.4:c.491T>C, NM_001080394.3:c.491T>C, NM_001080394.2:c.491T>C, XM_017013271.3:c.311T>C, XM_017013271.2:c.311T>C, XM_017013271.1:c.311T>C, XM_017013268.3:c.491T>C, XM_017013268.2:c.491T>C, XM_017013268.1:c.491T>C, XM_017013269.3:c.491T>C, XM_017013269.2:c.491T>C, XM_017013269.1:c.491T>C, XM_017013273.2:c.491T>C, XM_017013273.1:c.491T>C, XM_047421640.1:c.311T>C, XM_047421638.1:c.491T>C, NR_148202.1:n.572T>C, NM_001352949.1:c.-211T>C, NM_001352958.1:c.-837T>C, XM_047421643.1:c.491T>C, NM_001352931.1:c.491T>C, NR_148204.1:n.572T>C, NM_001352935.1:c.281T>C, XM_047421641.1:c.491T>C, NM_001282919.1:c.311T>C, NM_001352933.1:c.311T>C, NM_001282916.1:c.281T>C, NR_148205.1:n.572T>C, NR_148203.1:n.535T>C, NM_001352934.1:c.491T>C, NM_001352951.1:c.-9T>C, NM_001352937.1:c.311T>C, NM_001352942.1:c.-167T>C, NM_001352947.1:c.-9T>C, NM_001352948.1:c.-9T>C, NM_001352961.1:c.491T>C, NM_001352946.1:c.-9T>C, NM_001352936.1:c.281T>C, NM_001352955.1:c.-91T>C, XM_047421648.1:c.-9T>C, NM_001352953.1:c.-91T>C, NM_001352957.1:c.-91T>C, XM_047421649.1:c.-91T>C, NR_104581.1:n.572T>C, XM_047421639.1:c.491T>C, NM_018613.1:c.-197T>C, XP_011515799.1:p.Leu164Ser, NP_001073863.1:p.Leu164Ser, XP_016868760.1:p.Leu104Ser, XP_016868757.1:p.Leu164Ser, XP_016868758.1:p.Leu164Ser, XP_016868762.1:p.Leu164Ser, XP_047277596.1:p.Leu104Ser, XP_047277594.1:p.Leu164Ser, XP_047277599.1:p.Leu164Ser, NP_001339860.1:p.Leu164Ser, NP_001339864.1:p.Leu94Ser, XP_047277597.1:p.Leu164Ser, NP_001269848.1:p.Leu104Ser, NP_001339862.1:p.Leu104Ser, NP_001269845.1:p.Leu94Ser, NP_001339863.1:p.Leu164Ser, NP_001339866.1:p.Leu104Ser, NP_001339890.1:p.Leu164Ser, NP_001339865.1:p.Leu94Ser, XP_047277595.1:p.Leu164Ser

              7.

              rs1482246223 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C,G [Show Flanks]
                Chromosome:
                8:47727231 (GRCh38)
                8:48639793 (GRCh37)
                Canonical SPDI:
                NC_000008.11:47727230:T:C,NC_000008.11:47727230:T:G
                Gene:
                SPIDR (Varview)
                Functional Consequence:
                synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                Validated:
                by frequency,by cluster
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000008.11:g.47727231T>C, NC_000008.11:g.47727231T>G, NC_000008.10:g.48639793T>C, NC_000008.10:g.48639793T>G, XM_011517497.4:c.2373T>C, XM_011517497.4:c.2373T>G, XM_011517497.3:c.2373T>C, XM_011517497.3:c.2373T>G, XM_011517497.2:c.2373T>C, XM_011517497.2:c.2373T>G, XM_011517497.1:c.2373T>C, XM_011517497.1:c.2373T>G, NM_001080394.4:c.2373T>C, NM_001080394.4:c.2373T>G, NM_001080394.3:c.2373T>C, NM_001080394.3:c.2373T>G, NM_001080394.2:c.2373T>C, NM_001080394.2:c.2373T>G, XM_017013271.3:c.2193T>C, XM_017013271.3:c.2193T>G, XM_017013271.2:c.2193T>C, XM_017013271.2:c.2193T>G, XM_017013271.1:c.2193T>C, XM_017013271.1:c.2193T>G, XM_017013268.3:c.2373T>C, XM_017013268.3:c.2373T>G, XM_017013268.2:c.2373T>C, XM_017013268.2:c.2373T>G, XM_017013268.1:c.2373T>C, XM_017013268.1:c.2373T>G, XM_017013269.3:c.2313T>C, XM_017013269.3:c.2313T>G, XM_017013269.2:c.2313T>C, XM_017013269.2:c.2313T>G, XM_017013269.1:c.2313T>C, XM_017013269.1:c.2313T>G, XM_017013270.3:c.2253T>C, XM_017013270.3:c.2253T>G, XM_017013270.2:c.2253T>C, XM_017013270.2:c.2253T>G, XM_017013270.1:c.2253T>C, XM_017013270.1:c.2253T>G, XM_017013273.2:c.1902T>C, XM_017013273.2:c.1902T>G, XM_017013273.1:c.1902T>C, XM_017013273.1:c.1902T>G, XM_047421640.1:c.2193T>C, XM_047421640.1:c.2193T>G, XM_047421638.1:c.2313T>C, XM_047421638.1:c.2313T>G, NR_148202.1:n.2576T>C, NR_148202.1:n.2576T>G, NM_001352949.1:c.1716T>C, NM_001352949.1:c.1716T>G, NM_001352958.1:c.1125T>C, NM_001352958.1:c.1125T>G, XM_047421643.1:c.2313T>C, XM_047421643.1:c.2313T>G, NM_001352931.1:c.2373T>C, NM_001352931.1:c.2373T>G, XM_047421644.1:c.2253T>C, XM_047421644.1:c.2253T>G, NR_148204.1:n.2449T>C, NR_148204.1:n.2449T>G, NM_001352935.1:c.2163T>C, NM_001352935.1:c.2163T>G, NM_001282919.1:c.2193T>C, NM_001282919.1:c.2193T>G, NM_001352933.1:c.2193T>C, NM_001352933.1:c.2193T>G, NM_001282916.1:c.2163T>C, NM_001282916.1:c.2163T>G, XM_047421646.1:c.1875T>C, XM_047421646.1:c.1875T>G, NM_001352932.1:c.2253T>C, NM_001352932.1:c.2253T>G, XM_047421645.1:c.1881T>C, XM_047421645.1:c.1881T>G, XM_047421647.1:c.1716T>C, XM_047421647.1:c.1716T>G, NM_001352940.1:c.1881T>C, NM_001352940.1:c.1881T>G, NM_001352934.1:c.2373T>C, NM_001352934.1:c.2373T>G, NM_001352951.1:c.1623T>C, NM_001352951.1:c.1623T>G, NM_001352938.1:c.1881T>C, NM_001352938.1:c.1881T>G, NM_001352937.1:c.2193T>C, NM_001352937.1:c.2193T>G, NM_001352942.1:c.1716T>C, NM_001352942.1:c.1716T>G, NM_001352939.1:c.1881T>C, NM_001352939.1:c.1881T>G, NM_001352947.1:c.1623T>C, NM_001352947.1:c.1623T>G, NM_001352948.1:c.1623T>C, NM_001352948.1:c.1623T>G, NM_001352946.1:c.1623T>C, NM_001352946.1:c.1623T>G, NM_001352950.1:c.1881T>C, NM_001352950.1:c.1881T>G, NM_001352955.1:c.1440T>C, NM_001352955.1:c.1440T>G, XM_047421648.1:c.1623T>C, XM_047421648.1:c.1623T>G, NM_001352952.1:c.1440T>C, NM_001352952.1:c.1440T>G, NM_001352953.1:c.1440T>C, NM_001352953.1:c.1440T>G, NM_001352956.1:c.1440T>C, NM_001352956.1:c.1440T>G, NM_001352941.1:c.1857T>C, NM_001352941.1:c.1857T>G, NM_001352957.1:c.1440T>C, NM_001352957.1:c.1440T>G, NM_001352945.1:c.1647T>C, NM_001352945.1:c.1647T>G, XM_047421649.1:c.1440T>C, XM_047421649.1:c.1440T>G, NR_104581.1:n.1851T>C, NR_104581.1:n.1851T>G, XM_047421639.1:c.2373T>C, XM_047421639.1:c.2373T>G, XM_047421651.1:c.1125T>C, XM_047421651.1:c.1125T>G, XM_047421652.1:c.1125T>C, XM_047421652.1:c.1125T>G, NM_001352960.1:c.798T>C, NM_001352960.1:c.798T>G, NM_001352959.1:c.888T>C, NM_001352959.1:c.888T>G

                8.

                rs1481809528 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  8:47599195 (GRCh38)
                  8:48511757 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:47599194:C:T
                  Gene:
                  SPIDR (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,stop_gained,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  T=0.000007/1 (GnomAD)
                  T=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000008.11:g.47599195C>T, NC_000008.10:g.48511757C>T, XM_011517497.4:c.1543C>T, XM_011517497.3:c.1543C>T, XM_011517497.2:c.1543C>T, XM_011517497.1:c.1543C>T, NM_001080394.4:c.1543C>T, NM_001080394.3:c.1543C>T, NM_001080394.2:c.1543C>T, XM_017013271.3:c.1363C>T, XM_017013271.2:c.1363C>T, XM_017013271.1:c.1363C>T, XM_017013268.3:c.1543C>T, XM_017013268.2:c.1543C>T, XM_017013268.1:c.1543C>T, XM_017013269.3:c.1543C>T, XM_017013269.2:c.1543C>T, XM_017013269.1:c.1543C>T, XM_017013270.3:c.1423C>T, XM_017013270.2:c.1423C>T, XM_017013270.1:c.1423C>T, XM_017013273.2:c.1072C>T, XM_017013273.1:c.1072C>T, XM_047421640.1:c.1363C>T, XM_047421638.1:c.1543C>T, NR_148202.1:n.1624C>T, NM_001352949.1:c.886C>T, NM_001352958.1:c.295C>T, XM_047421643.1:c.1543C>T, NM_001352931.1:c.1543C>T, XM_047421644.1:c.1423C>T, NR_148204.1:n.1624C>T, NM_001352935.1:c.1333C>T, XM_047421641.1:c.1543C>T, NM_001282919.1:c.1363C>T, NM_001352933.1:c.1363C>T, NM_001282916.1:c.1333C>T, XM_047421642.1:c.1423C>T, NR_148205.1:n.1624C>T, XM_047421646.1:c.1045C>T, NM_001352932.1:c.1423C>T, XM_047421645.1:c.1051C>T, NR_148203.1:n.1587C>T, XM_047421647.1:c.886C>T, NM_001352940.1:c.1051C>T, NM_001352934.1:c.1543C>T, NM_001352951.1:c.793C>T, NM_001352938.1:c.1051C>T, NM_001352937.1:c.1363C>T, NM_001352942.1:c.886C>T, NM_001352939.1:c.1051C>T, NM_001352947.1:c.793C>T, NM_001352948.1:c.793C>T, NM_001352961.1:c.1543C>T, NM_001352946.1:c.793C>T, NM_001352936.1:c.1333C>T, NM_001352950.1:c.1051C>T, NM_001352955.1:c.610C>T, XM_047421648.1:c.793C>T, NM_001352952.1:c.610C>T, NM_001352953.1:c.610C>T, NM_001352943.1:c.1051C>T, NM_001352956.1:c.610C>T, NM_001352941.1:c.1027C>T, NM_001352957.1:c.610C>T, NM_001352945.1:c.817C>T, XM_047421649.1:c.610C>T, XM_047421639.1:c.1543C>T, XM_047421651.1:c.295C>T, NM_001352944.1:c.1027C>T, XM_047421650.1:c.1051C>T, XM_047421652.1:c.295C>T, XP_011515799.1:p.Arg515Ter, NP_001073863.1:p.Arg515Ter, XP_016868760.1:p.Arg455Ter, XP_016868757.1:p.Arg515Ter, XP_016868758.1:p.Arg515Ter, XP_016868759.1:p.Arg475Ter, XP_016868762.1:p.Arg358Ter, XP_047277596.1:p.Arg455Ter, XP_047277594.1:p.Arg515Ter, NP_001339878.1:p.Arg296Ter, NP_001339887.1:p.Arg99Ter, XP_047277599.1:p.Arg515Ter, NP_001339860.1:p.Arg515Ter, XP_047277600.1:p.Arg475Ter, NP_001339864.1:p.Arg445Ter, XP_047277597.1:p.Arg515Ter, NP_001269848.1:p.Arg455Ter, NP_001339862.1:p.Arg455Ter, NP_001269845.1:p.Arg445Ter, XP_047277598.1:p.Arg475Ter, XP_047277602.1:p.Arg349Ter, NP_001339861.1:p.Arg475Ter, XP_047277601.1:p.Arg351Ter, XP_047277603.1:p.Arg296Ter, NP_001339869.1:p.Arg351Ter, NP_001339863.1:p.Arg515Ter, NP_001339880.1:p.Arg265Ter, NP_001339867.1:p.Arg351Ter, NP_001339866.1:p.Arg455Ter, NP_001339871.1:p.Arg296Ter, NP_001339868.1:p.Arg351Ter, NP_001339876.1:p.Arg265Ter, NP_001339877.1:p.Arg265Ter, NP_001339890.1:p.Arg515Ter, NP_001339875.1:p.Arg265Ter, NP_001339865.1:p.Arg445Ter, NP_001339879.1:p.Arg351Ter, NP_001339884.1:p.Arg204Ter, XP_047277604.1:p.Arg265Ter, NP_001339881.1:p.Arg204Ter, NP_001339882.1:p.Arg204Ter, NP_001339872.1:p.Arg351Ter, NP_001339885.1:p.Arg204Ter, NP_001339870.1:p.Arg343Ter, NP_001339886.1:p.Arg204Ter, NP_001339874.1:p.Arg273Ter, XP_047277605.1:p.Arg204Ter, XP_047277595.1:p.Arg515Ter, XP_047277607.1:p.Arg99Ter, NP_001339873.1:p.Arg343Ter, XP_047277606.1:p.Arg351Ter, XP_047277608.1:p.Arg99Ter

                  9.

                  rs1481161828 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    8:47599064 (GRCh38)
                    8:48511626 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:47599063:G:A
                    Gene:
                    SPIDR (Varview)
                    Functional Consequence:
                    missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000008.11:g.47599064G>A, NC_000008.10:g.48511626G>A, XM_011517497.4:c.1412G>A, XM_011517497.3:c.1412G>A, XM_011517497.2:c.1412G>A, XM_011517497.1:c.1412G>A, NM_001080394.4:c.1412G>A, NM_001080394.3:c.1412G>A, NM_001080394.2:c.1412G>A, XM_017013271.3:c.1232G>A, XM_017013271.2:c.1232G>A, XM_017013271.1:c.1232G>A, XM_017013268.3:c.1412G>A, XM_017013268.2:c.1412G>A, XM_017013268.1:c.1412G>A, XM_017013269.3:c.1412G>A, XM_017013269.2:c.1412G>A, XM_017013269.1:c.1412G>A, XM_017013270.3:c.1292G>A, XM_017013270.2:c.1292G>A, XM_017013270.1:c.1292G>A, XM_017013273.2:c.941G>A, XM_017013273.1:c.941G>A, XM_047421640.1:c.1232G>A, XM_047421638.1:c.1412G>A, NR_148202.1:n.1493G>A, NM_001352949.1:c.755G>A, NM_001352958.1:c.164G>A, XM_047421643.1:c.1412G>A, NM_001352931.1:c.1412G>A, XM_047421644.1:c.1292G>A, NR_148204.1:n.1493G>A, NM_001352935.1:c.1202G>A, XM_047421641.1:c.1412G>A, NM_001282919.1:c.1232G>A, NM_001352933.1:c.1232G>A, NM_001282916.1:c.1202G>A, XM_047421642.1:c.1292G>A, NR_148205.1:n.1493G>A, XM_047421646.1:c.914G>A, NM_001352932.1:c.1292G>A, XM_047421645.1:c.920G>A, NR_148203.1:n.1456G>A, XM_047421647.1:c.755G>A, NM_001352940.1:c.920G>A, NM_001352934.1:c.1412G>A, NM_001352951.1:c.662G>A, NM_001352938.1:c.920G>A, NM_001352937.1:c.1232G>A, NM_001352942.1:c.755G>A, NM_001352939.1:c.920G>A, NM_001352947.1:c.662G>A, NM_001352948.1:c.662G>A, NM_001352961.1:c.1412G>A, NM_001352946.1:c.662G>A, NM_001352936.1:c.1202G>A, NM_001352950.1:c.920G>A, NM_001352955.1:c.479G>A, XM_047421648.1:c.662G>A, NM_001352952.1:c.479G>A, NM_001352953.1:c.479G>A, NM_001352943.1:c.920G>A, NM_001352956.1:c.479G>A, NM_001352941.1:c.896G>A, NM_001352957.1:c.479G>A, NM_001352945.1:c.686G>A, XM_047421649.1:c.479G>A, XM_047421639.1:c.1412G>A, XM_047421651.1:c.164G>A, NM_001352944.1:c.896G>A, XM_047421650.1:c.920G>A, XM_047421652.1:c.164G>A, XP_011515799.1:p.Ser471Asn, NP_001073863.1:p.Ser471Asn, XP_016868760.1:p.Ser411Asn, XP_016868757.1:p.Ser471Asn, XP_016868758.1:p.Ser471Asn, XP_016868759.1:p.Ser431Asn, XP_016868762.1:p.Ser314Asn, XP_047277596.1:p.Ser411Asn, XP_047277594.1:p.Ser471Asn, NP_001339878.1:p.Ser252Asn, NP_001339887.1:p.Ser55Asn, XP_047277599.1:p.Ser471Asn, NP_001339860.1:p.Ser471Asn, XP_047277600.1:p.Ser431Asn, NP_001339864.1:p.Ser401Asn, XP_047277597.1:p.Ser471Asn, NP_001269848.1:p.Ser411Asn, NP_001339862.1:p.Ser411Asn, NP_001269845.1:p.Ser401Asn, XP_047277598.1:p.Ser431Asn, XP_047277602.1:p.Ser305Asn, NP_001339861.1:p.Ser431Asn, XP_047277601.1:p.Ser307Asn, XP_047277603.1:p.Ser252Asn, NP_001339869.1:p.Ser307Asn, NP_001339863.1:p.Ser471Asn, NP_001339880.1:p.Ser221Asn, NP_001339867.1:p.Ser307Asn, NP_001339866.1:p.Ser411Asn, NP_001339871.1:p.Ser252Asn, NP_001339868.1:p.Ser307Asn, NP_001339876.1:p.Ser221Asn, NP_001339877.1:p.Ser221Asn, NP_001339890.1:p.Ser471Asn, NP_001339875.1:p.Ser221Asn, NP_001339865.1:p.Ser401Asn, NP_001339879.1:p.Ser307Asn, NP_001339884.1:p.Ser160Asn, XP_047277604.1:p.Ser221Asn, NP_001339881.1:p.Ser160Asn, NP_001339882.1:p.Ser160Asn, NP_001339872.1:p.Ser307Asn, NP_001339885.1:p.Ser160Asn, NP_001339870.1:p.Ser299Asn, NP_001339886.1:p.Ser160Asn, NP_001339874.1:p.Ser229Asn, XP_047277605.1:p.Ser160Asn, XP_047277595.1:p.Ser471Asn, XP_047277607.1:p.Ser55Asn, NP_001339873.1:p.Ser299Asn, XP_047277606.1:p.Ser307Asn, XP_047277608.1:p.Ser55Asn

                    10.

                    rs1480241119 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      8:47713517 (GRCh38)
                      8:48626079 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:47713516:C:T
                      Gene:
                      SPIDR (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000008.11:g.47713517C>T, NC_000008.10:g.48626079C>T, XM_011517497.4:c.2217C>T, XM_011517497.3:c.2217C>T, XM_011517497.2:c.2217C>T, XM_011517497.1:c.2217C>T, NM_001080394.4:c.2217C>T, NM_001080394.3:c.2217C>T, NM_001080394.2:c.2217C>T, XM_017013271.3:c.2037C>T, XM_017013271.2:c.2037C>T, XM_017013271.1:c.2037C>T, XM_017013268.3:c.2217C>T, XM_017013268.2:c.2217C>T, XM_017013268.1:c.2217C>T, XM_017013269.3:c.2157C>T, XM_017013269.2:c.2157C>T, XM_017013269.1:c.2157C>T, XM_017013270.3:c.2097C>T, XM_017013270.2:c.2097C>T, XM_017013270.1:c.2097C>T, XM_017013273.2:c.1746C>T, XM_017013273.1:c.1746C>T, XM_047421640.1:c.2037C>T, XM_047421638.1:c.2157C>T, NR_148202.1:n.2420C>T, NM_001352949.1:c.1560C>T, NM_001352958.1:c.969C>T, XM_047421643.1:c.2157C>T, NM_001352931.1:c.2217C>T, XM_047421644.1:c.2097C>T, NR_148204.1:n.2293C>T, NM_001352935.1:c.2007C>T, XM_047421641.1:c.2157C>T, NM_001282919.1:c.2037C>T, NM_001352933.1:c.2037C>T, NM_001282916.1:c.2007C>T, XM_047421642.1:c.2097C>T, NR_148205.1:n.2298C>T, XM_047421646.1:c.1719C>T, NM_001352932.1:c.2097C>T, XM_047421645.1:c.1725C>T, NR_148203.1:n.2261C>T, XM_047421647.1:c.1560C>T, NM_001352940.1:c.1725C>T, NM_001352934.1:c.2217C>T, NM_001352951.1:c.1467C>T, NM_001352938.1:c.1725C>T, NM_001352937.1:c.2037C>T, NM_001352942.1:c.1560C>T, NM_001352939.1:c.1725C>T, NM_001352947.1:c.1467C>T, NM_001352948.1:c.1467C>T, NM_001352961.1:c.2217C>T, NM_001352946.1:c.1467C>T, NM_001352936.1:c.2007C>T, NM_001352950.1:c.1725C>T, NM_001352955.1:c.1284C>T, XM_047421648.1:c.1467C>T, NM_001352952.1:c.1284C>T, NM_001352953.1:c.1284C>T, NM_001352943.1:c.1725C>T, NM_001352956.1:c.1284C>T, NM_001352941.1:c.1701C>T, NM_001352957.1:c.1284C>T, NM_001352945.1:c.1491C>T, XM_047421649.1:c.1284C>T, NR_104581.1:n.1695C>T, XM_047421639.1:c.2217C>T, XM_047421651.1:c.969C>T, NM_001352944.1:c.1701C>T, XM_047421650.1:c.*619C>T, XM_047421652.1:c.969C>T, NM_001352960.1:c.642C>T, NM_001352959.1:c.732C>T

                      11.

                      rs1478297988 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        8:47713528 (GRCh38)
                        8:48626090 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:47713527:A:G
                        Gene:
                        SPIDR (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000008.11:g.47713528A>G, NC_000008.10:g.48626090A>G, XM_011517497.4:c.2228A>G, XM_011517497.3:c.2228A>G, XM_011517497.2:c.2228A>G, XM_011517497.1:c.2228A>G, NM_001080394.4:c.2228A>G, NM_001080394.3:c.2228A>G, NM_001080394.2:c.2228A>G, XM_017013271.3:c.2048A>G, XM_017013271.2:c.2048A>G, XM_017013271.1:c.2048A>G, XM_017013268.3:c.2228A>G, XM_017013268.2:c.2228A>G, XM_017013268.1:c.2228A>G, XM_017013269.3:c.2168A>G, XM_017013269.2:c.2168A>G, XM_017013269.1:c.2168A>G, XM_017013270.3:c.2108A>G, XM_017013270.2:c.2108A>G, XM_017013270.1:c.2108A>G, XM_017013273.2:c.1757A>G, XM_017013273.1:c.1757A>G, XM_047421640.1:c.2048A>G, XM_047421638.1:c.2168A>G, NR_148202.1:n.2431A>G, NM_001352949.1:c.1571A>G, NM_001352958.1:c.980A>G, XM_047421643.1:c.2168A>G, NM_001352931.1:c.2228A>G, XM_047421644.1:c.2108A>G, NR_148204.1:n.2304A>G, NM_001352935.1:c.2018A>G, XM_047421641.1:c.2168A>G, NM_001282919.1:c.2048A>G, NM_001352933.1:c.2048A>G, NM_001282916.1:c.2018A>G, XM_047421642.1:c.2108A>G, NR_148205.1:n.2309A>G, XM_047421646.1:c.1730A>G, NM_001352932.1:c.2108A>G, XM_047421645.1:c.1736A>G, NR_148203.1:n.2272A>G, XM_047421647.1:c.1571A>G, NM_001352940.1:c.1736A>G, NM_001352934.1:c.2228A>G, NM_001352951.1:c.1478A>G, NM_001352938.1:c.1736A>G, NM_001352937.1:c.2048A>G, NM_001352942.1:c.1571A>G, NM_001352939.1:c.1736A>G, NM_001352947.1:c.1478A>G, NM_001352948.1:c.1478A>G, NM_001352961.1:c.2228A>G, NM_001352946.1:c.1478A>G, NM_001352936.1:c.2018A>G, NM_001352950.1:c.1736A>G, NM_001352955.1:c.1295A>G, XM_047421648.1:c.1478A>G, NM_001352952.1:c.1295A>G, NM_001352953.1:c.1295A>G, NM_001352943.1:c.1736A>G, NM_001352956.1:c.1295A>G, NM_001352941.1:c.1712A>G, NM_001352957.1:c.1295A>G, NM_001352945.1:c.1502A>G, XM_047421649.1:c.1295A>G, NR_104581.1:n.1706A>G, XM_047421639.1:c.2228A>G, XM_047421651.1:c.980A>G, NM_001352944.1:c.1712A>G, XM_047421650.1:c.*630A>G, XM_047421652.1:c.980A>G, NM_001352960.1:c.653A>G, NM_001352959.1:c.743A>G, XP_011515799.1:p.Gln743Arg, NP_001073863.1:p.Gln743Arg, XP_016868760.1:p.Gln683Arg, XP_016868757.1:p.Gln743Arg, XP_016868758.1:p.Gln723Arg, XP_016868759.1:p.Gln703Arg, XP_016868762.1:p.Gln586Arg, XP_047277596.1:p.Gln683Arg, XP_047277594.1:p.Gln723Arg, NP_001339878.1:p.Gln524Arg, NP_001339887.1:p.Gln327Arg, XP_047277599.1:p.Gln723Arg, NP_001339860.1:p.Gln743Arg, XP_047277600.1:p.Gln703Arg, NP_001339864.1:p.Gln673Arg, XP_047277597.1:p.Gln723Arg, NP_001269848.1:p.Gln683Arg, NP_001339862.1:p.Gln683Arg, NP_001269845.1:p.Gln673Arg, XP_047277598.1:p.Gln703Arg, XP_047277602.1:p.Gln577Arg, NP_001339861.1:p.Gln703Arg, XP_047277601.1:p.Gln579Arg, XP_047277603.1:p.Gln524Arg, NP_001339869.1:p.Gln579Arg, NP_001339863.1:p.Gln743Arg, NP_001339880.1:p.Gln493Arg, NP_001339867.1:p.Gln579Arg, NP_001339866.1:p.Gln683Arg, NP_001339871.1:p.Gln524Arg, NP_001339868.1:p.Gln579Arg, NP_001339876.1:p.Gln493Arg, NP_001339877.1:p.Gln493Arg, NP_001339890.1:p.Gln743Arg, NP_001339875.1:p.Gln493Arg, NP_001339865.1:p.Gln673Arg, NP_001339879.1:p.Gln579Arg, NP_001339884.1:p.Gln432Arg, XP_047277604.1:p.Gln493Arg, NP_001339881.1:p.Gln432Arg, NP_001339882.1:p.Gln432Arg, NP_001339872.1:p.Gln579Arg, NP_001339885.1:p.Gln432Arg, NP_001339870.1:p.Gln571Arg, NP_001339886.1:p.Gln432Arg, NP_001339874.1:p.Gln501Arg, XP_047277605.1:p.Gln432Arg, XP_047277595.1:p.Gln743Arg, XP_047277607.1:p.Gln327Arg, NP_001339873.1:p.Gln571Arg, XP_047277608.1:p.Gln327Arg, NP_001339889.1:p.Gln218Arg, NP_001339888.1:p.Gln248Arg

                        12.

                        rs1476941146 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          8:47291041 (GRCh38)
                          8:48203630 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:47291040:A:G
                          Gene:
                          SPIDR (Varview)
                          Functional Consequence:
                          missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000008.11:g.47291041A>G, NW_004775431.1:g.27199A>G, NT_113909.1:g.15881T>C, NC_000008.10:g.48203630A>G, XM_011517497.4:c.265A>G, XM_011517497.3:c.265A>G, XM_011517497.2:c.265A>G, XM_011517497.1:c.265A>G, NM_001080394.4:c.265A>G, NM_001080394.3:c.265A>G, NM_001080394.2:c.265A>G, XM_017013271.3:c.85A>G, XM_017013271.2:c.85A>G, XM_017013271.1:c.85A>G, XM_017013268.3:c.265A>G, XM_017013268.2:c.265A>G, XM_017013268.1:c.265A>G, XM_017013269.3:c.265A>G, XM_017013269.2:c.265A>G, XM_017013269.1:c.265A>G, XM_017013270.3:c.265A>G, XM_017013270.2:c.265A>G, XM_017013270.1:c.265A>G, XM_017013273.2:c.265A>G, XM_017013273.1:c.265A>G, XM_047421640.1:c.85A>G, XM_047421638.1:c.265A>G, NR_148202.1:n.346A>G, NM_001352949.1:c.-437A>G, NM_001352958.1:c.-1063A>G, XM_047421643.1:c.265A>G, NM_001352931.1:c.265A>G, XM_047421644.1:c.265A>G, NR_148204.1:n.346A>G, NM_001352935.1:c.55A>G, XM_047421641.1:c.265A>G, NM_001282919.1:c.85A>G, NM_001352933.1:c.85A>G, NM_001282916.1:c.55A>G, XM_047421642.1:c.265A>G, NR_148205.1:n.346A>G, NM_001352932.1:c.265A>G, XM_047421645.1:c.-64A>G, NR_148203.1:n.309A>G, NM_001352940.1:c.-64A>G, NM_001352934.1:c.265A>G, NM_001352951.1:c.-235A>G, NM_001352938.1:c.-64A>G, NM_001352937.1:c.85A>G, NM_001352942.1:c.-393A>G, NM_001352939.1:c.-64A>G, NM_001352947.1:c.-235A>G, NM_001352948.1:c.-235A>G, NM_001352961.1:c.265A>G, NM_001352946.1:c.-235A>G, NM_001352936.1:c.55A>G, NM_001352950.1:c.-64A>G, NM_001352955.1:c.-317A>G, NM_001352952.1:c.-254A>G, NM_001352953.1:c.-317A>G, NM_001352943.1:c.-64A>G, NM_001352956.1:c.-254A>G, NM_001352941.1:c.265A>G, NM_001352957.1:c.-317A>G, NM_001352945.1:c.55A>G, NR_104581.1:n.346A>G, XM_047421639.1:c.265A>G, NM_001352944.1:c.265A>G, XM_047421650.1:c.-64A>G, XP_011515799.1:p.Thr89Ala, NP_001073863.1:p.Thr89Ala, XP_016868760.1:p.Thr29Ala, XP_016868757.1:p.Thr89Ala, XP_016868758.1:p.Thr89Ala, XP_016868759.1:p.Thr89Ala, XP_016868762.1:p.Thr89Ala, XP_047277596.1:p.Thr29Ala, XP_047277594.1:p.Thr89Ala, XP_047277599.1:p.Thr89Ala, NP_001339860.1:p.Thr89Ala, XP_047277600.1:p.Thr89Ala, NP_001339864.1:p.Thr19Ala, XP_047277597.1:p.Thr89Ala, NP_001269848.1:p.Thr29Ala, NP_001339862.1:p.Thr29Ala, NP_001269845.1:p.Thr19Ala, XP_047277598.1:p.Thr89Ala, NP_001339861.1:p.Thr89Ala, NP_001339863.1:p.Thr89Ala, NP_001339866.1:p.Thr29Ala, NP_001339890.1:p.Thr89Ala, NP_001339865.1:p.Thr19Ala, NP_001339870.1:p.Thr89Ala, NP_001339874.1:p.Thr19Ala, XP_047277595.1:p.Thr89Ala, NP_001339873.1:p.Thr89Ala

                          13.

                          rs1476308788 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            8:47713512 (GRCh38)
                            8:48626074 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:47713511:A:G
                            Gene:
                            SPIDR (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000008.11:g.47713512A>G, NC_000008.10:g.48626074A>G, XM_011517497.4:c.2212A>G, XM_011517497.3:c.2212A>G, XM_011517497.2:c.2212A>G, XM_011517497.1:c.2212A>G, NM_001080394.4:c.2212A>G, NM_001080394.3:c.2212A>G, NM_001080394.2:c.2212A>G, XM_017013271.3:c.2032A>G, XM_017013271.2:c.2032A>G, XM_017013271.1:c.2032A>G, XM_017013268.3:c.2212A>G, XM_017013268.2:c.2212A>G, XM_017013268.1:c.2212A>G, XM_017013269.3:c.2152A>G, XM_017013269.2:c.2152A>G, XM_017013269.1:c.2152A>G, XM_017013270.3:c.2092A>G, XM_017013270.2:c.2092A>G, XM_017013270.1:c.2092A>G, XM_017013273.2:c.1741A>G, XM_017013273.1:c.1741A>G, XM_047421640.1:c.2032A>G, XM_047421638.1:c.2152A>G, NR_148202.1:n.2415A>G, NM_001352949.1:c.1555A>G, NM_001352958.1:c.964A>G, XM_047421643.1:c.2152A>G, NM_001352931.1:c.2212A>G, XM_047421644.1:c.2092A>G, NR_148204.1:n.2288A>G, NM_001352935.1:c.2002A>G, XM_047421641.1:c.2152A>G, NM_001282919.1:c.2032A>G, NM_001352933.1:c.2032A>G, NM_001282916.1:c.2002A>G, XM_047421642.1:c.2092A>G, NR_148205.1:n.2293A>G, XM_047421646.1:c.1714A>G, NM_001352932.1:c.2092A>G, XM_047421645.1:c.1720A>G, NR_148203.1:n.2256A>G, XM_047421647.1:c.1555A>G, NM_001352940.1:c.1720A>G, NM_001352934.1:c.2212A>G, NM_001352951.1:c.1462A>G, NM_001352938.1:c.1720A>G, NM_001352937.1:c.2032A>G, NM_001352942.1:c.1555A>G, NM_001352939.1:c.1720A>G, NM_001352947.1:c.1462A>G, NM_001352948.1:c.1462A>G, NM_001352961.1:c.2212A>G, NM_001352946.1:c.1462A>G, NM_001352936.1:c.2002A>G, NM_001352950.1:c.1720A>G, NM_001352955.1:c.1279A>G, XM_047421648.1:c.1462A>G, NM_001352952.1:c.1279A>G, NM_001352953.1:c.1279A>G, NM_001352943.1:c.1720A>G, NM_001352956.1:c.1279A>G, NM_001352941.1:c.1696A>G, NM_001352957.1:c.1279A>G, NM_001352945.1:c.1486A>G, XM_047421649.1:c.1279A>G, NR_104581.1:n.1690A>G, XM_047421639.1:c.2212A>G, XM_047421651.1:c.964A>G, NM_001352944.1:c.1696A>G, XM_047421650.1:c.*614A>G, XM_047421652.1:c.964A>G, NM_001352960.1:c.637A>G, NM_001352959.1:c.727A>G, XP_011515799.1:p.Thr738Ala, NP_001073863.1:p.Thr738Ala, XP_016868760.1:p.Thr678Ala, XP_016868757.1:p.Thr738Ala, XP_016868758.1:p.Thr718Ala, XP_016868759.1:p.Thr698Ala, XP_016868762.1:p.Thr581Ala, XP_047277596.1:p.Thr678Ala, XP_047277594.1:p.Thr718Ala, NP_001339878.1:p.Thr519Ala, NP_001339887.1:p.Thr322Ala, XP_047277599.1:p.Thr718Ala, NP_001339860.1:p.Thr738Ala, XP_047277600.1:p.Thr698Ala, NP_001339864.1:p.Thr668Ala, XP_047277597.1:p.Thr718Ala, NP_001269848.1:p.Thr678Ala, NP_001339862.1:p.Thr678Ala, NP_001269845.1:p.Thr668Ala, XP_047277598.1:p.Thr698Ala, XP_047277602.1:p.Thr572Ala, NP_001339861.1:p.Thr698Ala, XP_047277601.1:p.Thr574Ala, XP_047277603.1:p.Thr519Ala, NP_001339869.1:p.Thr574Ala, NP_001339863.1:p.Thr738Ala, NP_001339880.1:p.Thr488Ala, NP_001339867.1:p.Thr574Ala, NP_001339866.1:p.Thr678Ala, NP_001339871.1:p.Thr519Ala, NP_001339868.1:p.Thr574Ala, NP_001339876.1:p.Thr488Ala, NP_001339877.1:p.Thr488Ala, NP_001339890.1:p.Thr738Ala, NP_001339875.1:p.Thr488Ala, NP_001339865.1:p.Thr668Ala, NP_001339879.1:p.Thr574Ala, NP_001339884.1:p.Thr427Ala, XP_047277604.1:p.Thr488Ala, NP_001339881.1:p.Thr427Ala, NP_001339882.1:p.Thr427Ala, NP_001339872.1:p.Thr574Ala, NP_001339885.1:p.Thr427Ala, NP_001339870.1:p.Thr566Ala, NP_001339886.1:p.Thr427Ala, NP_001339874.1:p.Thr496Ala, XP_047277605.1:p.Thr427Ala, XP_047277595.1:p.Thr738Ala, XP_047277607.1:p.Thr322Ala, NP_001339873.1:p.Thr566Ala, XP_047277608.1:p.Thr322Ala, NP_001339889.1:p.Thr213Ala, NP_001339888.1:p.Thr243Ala

                            14.

                            rs1476030113 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              8:47735503 (GRCh38)
                              8:48648065 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:47735502:G:A
                              Gene:
                              SPIDR (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,stop_gained,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000008.11:g.47735503G>A, NC_000008.10:g.48648065G>A, XM_011517497.4:c.*244G>A, XM_011517497.3:c.*244G>A, XM_011517497.2:c.*244G>A, NM_001080394.4:c.*53G>A, NM_001080394.3:c.*53G>A, NM_001080394.2:c.*53G>A, XM_017013271.3:c.2622G>A, XM_017013271.2:c.2622G>A, XM_017013271.1:c.2622G>A, XM_017013268.3:c.2802G>A, XM_017013268.2:c.2802G>A, XM_017013268.1:c.2802G>A, XM_017013269.3:c.2742G>A, XM_017013269.2:c.2742G>A, XM_017013269.1:c.2742G>A, XM_017013270.3:c.2682G>A, XM_017013270.2:c.2682G>A, XM_017013270.1:c.2682G>A, XM_017013273.2:c.2331G>A, XM_017013273.1:c.2331G>A, XM_047421640.1:c.*53G>A, XM_047421638.1:c.*53G>A, NR_148202.1:n.3004G>A, NM_001352949.1:c.*204G>A, NM_001352958.1:c.*53G>A, XM_047421643.1:c.*184G>A, NM_001352931.1:c.*204G>A, XM_047421644.1:c.*184G>A, NR_148204.1:n.2877G>A, NM_001352935.1:c.*204G>A, XM_047421641.1:c.2478G>A, NM_001282919.1:c.2622G>A, NM_001352933.1:c.*53G>A, NM_001282916.1:c.*53G>A, XM_047421642.1:c.2418G>A, NR_148205.1:n.2788G>A, XM_047421646.1:c.2304G>A, NM_001352932.1:c.*53G>A, XM_047421645.1:c.2310G>A, NR_148203.1:n.2751G>A, XM_047421647.1:c.2145G>A, NM_001352940.1:c.*53G>A, NM_001352934.1:c.*184G>A, NM_001352951.1:c.*204G>A, NM_001352938.1:c.*53G>A, NM_001352937.1:c.*184G>A, NM_001352942.1:c.*53G>A, NM_001352939.1:c.*53G>A, NM_001352947.1:c.*53G>A, NM_001352948.1:c.*53G>A, NM_001352961.1:c.2538G>A, NM_001352946.1:c.*53G>A, NM_001352936.1:c.2328G>A, NM_001352950.1:c.*184G>A, NM_001352955.1:c.*53G>A, XM_047421648.1:c.2052G>A, NM_001352952.1:c.*53G>A, NM_001352953.1:c.*53G>A, NM_001352943.1:c.2046G>A, NM_001352956.1:c.*53G>A, NM_001352941.1:c.*53G>A, NM_001352957.1:c.*184G>A, NM_001352945.1:c.*53G>A, XM_047421649.1:c.1869G>A, NR_104581.1:n.2279G>A, XM_047421651.1:c.1554G>A, NM_001352944.1:c.2022G>A, XM_047421652.1:c.1554G>A, NM_001352960.1:c.*53G>A, NM_001352959.1:c.*53G>A, XP_016868760.1:p.Trp874Ter, XP_016868757.1:p.Trp934Ter, XP_016868758.1:p.Trp914Ter, XP_016868759.1:p.Trp894Ter, XP_016868762.1:p.Trp777Ter, XP_047277597.1:p.Trp826Ter, NP_001269848.1:p.Trp874Ter, XP_047277598.1:p.Trp806Ter, XP_047277602.1:p.Trp768Ter, XP_047277601.1:p.Trp770Ter, XP_047277603.1:p.Trp715Ter, NP_001339890.1:p.Trp846Ter, NP_001339865.1:p.Trp776Ter, XP_047277604.1:p.Trp684Ter, NP_001339872.1:p.Trp682Ter, XP_047277605.1:p.Trp623Ter, XP_047277607.1:p.Trp518Ter, NP_001339873.1:p.Trp674Ter, XP_047277608.1:p.Trp518Ter

                              15.

                              rs1473668004 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                8:47595994 (GRCh38)
                                8:48508556 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:47595993:A:T
                                Gene:
                                SPIDR (Varview)
                                Functional Consequence:
                                synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000008.11:g.47595994A>T, NC_000008.10:g.48508556A>T, XM_011517497.4:c.1281A>T, XM_011517497.3:c.1281A>T, XM_011517497.2:c.1281A>T, XM_011517497.1:c.1281A>T, NM_001080394.4:c.1281A>T, NM_001080394.3:c.1281A>T, NM_001080394.2:c.1281A>T, XM_017013271.3:c.1101A>T, XM_017013271.2:c.1101A>T, XM_017013271.1:c.1101A>T, XM_017013268.3:c.1281A>T, XM_017013268.2:c.1281A>T, XM_017013268.1:c.1281A>T, XM_017013269.3:c.1281A>T, XM_017013269.2:c.1281A>T, XM_017013269.1:c.1281A>T, XM_017013270.3:c.1161A>T, XM_017013270.2:c.1161A>T, XM_017013270.1:c.1161A>T, XM_017013273.2:c.810A>T, XM_017013273.1:c.810A>T, XM_047421640.1:c.1101A>T, XM_047421638.1:c.1281A>T, NR_148202.1:n.1362A>T, NM_001352949.1:c.624A>T, NM_001352958.1:c.33A>T, XM_047421643.1:c.1281A>T, NM_001352931.1:c.1281A>T, XM_047421644.1:c.1161A>T, NR_148204.1:n.1362A>T, NM_001352935.1:c.1071A>T, XM_047421641.1:c.1281A>T, NM_001282919.1:c.1101A>T, NM_001352933.1:c.1101A>T, NM_001282916.1:c.1071A>T, XM_047421642.1:c.1161A>T, NR_148205.1:n.1362A>T, XM_047421646.1:c.783A>T, NM_001352932.1:c.1161A>T, XM_047421645.1:c.789A>T, NR_148203.1:n.1325A>T, XM_047421647.1:c.624A>T, NM_001352940.1:c.789A>T, NM_001352934.1:c.1281A>T, NM_001352951.1:c.531A>T, NM_001352938.1:c.789A>T, NM_001352937.1:c.1101A>T, NM_001352942.1:c.624A>T, NM_001352939.1:c.789A>T, NM_001352947.1:c.531A>T, NM_001352948.1:c.531A>T, NM_001352961.1:c.1281A>T, NM_001352946.1:c.531A>T, NM_001352936.1:c.1071A>T, NM_001352950.1:c.789A>T, NM_001352955.1:c.348A>T, XM_047421648.1:c.531A>T, NM_001352952.1:c.348A>T, NM_001352953.1:c.348A>T, NM_001352943.1:c.789A>T, NM_001352956.1:c.348A>T, NM_001352941.1:c.765A>T, NM_001352957.1:c.348A>T, NM_001352945.1:c.555A>T, XM_047421649.1:c.348A>T, NR_104581.1:n.1010A>T, XM_047421639.1:c.1281A>T, XM_047421651.1:c.33A>T, NM_001352944.1:c.765A>T, XM_047421650.1:c.789A>T, XM_047421652.1:c.33A>T

                                16.

                                rs1471217674 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,T [Show Flanks]
                                  Chromosome:
                                  8:47440434 (GRCh38)
                                  8:48352996 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:47440433:A:C,NC_000008.11:47440433:A:T
                                  Gene:
                                  SPIDR (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  NC_000008.11:g.47440434A>C, NC_000008.11:g.47440434A>T, NC_000008.10:g.48352996A>C, NC_000008.10:g.48352996A>T, NW_004775431.1:g.176592A>C, NW_004775431.1:g.176592A>T, XM_011517497.4:c.989A>C, XM_011517497.4:c.989A>T, XM_011517497.3:c.989A>C, XM_011517497.3:c.989A>T, XM_011517497.2:c.989A>C, XM_011517497.2:c.989A>T, XM_011517497.1:c.989A>C, XM_011517497.1:c.989A>T, NM_001080394.4:c.989A>C, NM_001080394.4:c.989A>T, NM_001080394.3:c.989A>C, NM_001080394.3:c.989A>T, NM_001080394.2:c.989A>C, NM_001080394.2:c.989A>T, XM_017013271.3:c.809A>C, XM_017013271.3:c.809A>T, XM_017013271.2:c.809A>C, XM_017013271.2:c.809A>T, XM_017013271.1:c.809A>C, XM_017013271.1:c.809A>T, XM_017013268.3:c.989A>C, XM_017013268.3:c.989A>T, XM_017013268.2:c.989A>C, XM_017013268.2:c.989A>T, XM_017013268.1:c.989A>C, XM_017013268.1:c.989A>T, XM_017013269.3:c.989A>C, XM_017013269.3:c.989A>T, XM_017013269.2:c.989A>C, XM_017013269.2:c.989A>T, XM_017013269.1:c.989A>C, XM_017013269.1:c.989A>T, XM_017013270.3:c.869A>C, XM_017013270.3:c.869A>T, XM_017013270.2:c.869A>C, XM_017013270.2:c.869A>T, XM_017013270.1:c.869A>C, XM_017013270.1:c.869A>T, XM_047421640.1:c.809A>C, XM_047421640.1:c.809A>T, XM_047421638.1:c.989A>C, XM_047421638.1:c.989A>T, NR_148202.1:n.1070A>C, NR_148202.1:n.1070A>T, NM_001352949.1:c.332A>C, NM_001352949.1:c.332A>T, NM_001352958.1:c.-295A>C, NM_001352958.1:c.-295A>T, XM_047421643.1:c.989A>C, XM_047421643.1:c.989A>T, NM_001352931.1:c.989A>C, NM_001352931.1:c.989A>T, XM_047421644.1:c.869A>C, XM_047421644.1:c.869A>T, NR_148204.1:n.1070A>C, NR_148204.1:n.1070A>T, NM_001352935.1:c.779A>C, NM_001352935.1:c.779A>T, XM_047421641.1:c.989A>C, XM_047421641.1:c.989A>T, NM_001282919.1:c.809A>C, NM_001282919.1:c.809A>T, NM_001352933.1:c.809A>C, NM_001352933.1:c.809A>T, NM_001282916.1:c.779A>C, NM_001282916.1:c.779A>T, XM_047421642.1:c.869A>C, XM_047421642.1:c.869A>T, NR_148205.1:n.1070A>C, NR_148205.1:n.1070A>T, XM_047421646.1:c.491A>C, XM_047421646.1:c.491A>T, NM_001352932.1:c.869A>C, NM_001352932.1:c.869A>T, XM_047421645.1:c.497A>C, XM_047421645.1:c.497A>T, NR_148203.1:n.1033A>C, NR_148203.1:n.1033A>T, XM_047421647.1:c.332A>C, XM_047421647.1:c.332A>T, NM_001352940.1:c.497A>C, NM_001352940.1:c.497A>T, NM_001352934.1:c.989A>C, NM_001352934.1:c.989A>T, NM_001352951.1:c.239A>C, NM_001352951.1:c.239A>T, NM_001352938.1:c.497A>C, NM_001352938.1:c.497A>T, NM_001352937.1:c.809A>C, NM_001352937.1:c.809A>T, NM_001352942.1:c.332A>C, NM_001352942.1:c.332A>T, NM_001352939.1:c.497A>C, NM_001352939.1:c.497A>T, NM_001352947.1:c.239A>C, NM_001352947.1:c.239A>T, NM_001352948.1:c.239A>C, NM_001352948.1:c.239A>T, NM_001352961.1:c.989A>C, NM_001352961.1:c.989A>T, NM_001352946.1:c.239A>C, NM_001352946.1:c.239A>T, NM_001352936.1:c.779A>C, NM_001352936.1:c.779A>T, NM_001352950.1:c.497A>C, NM_001352950.1:c.497A>T, NM_001352955.1:c.56A>C, NM_001352955.1:c.56A>T, XM_047421648.1:c.239A>C, XM_047421648.1:c.239A>T, NM_001352952.1:c.56A>C, NM_001352952.1:c.56A>T, NM_001352953.1:c.56A>C, NM_001352953.1:c.56A>T, NM_001352943.1:c.497A>C, NM_001352943.1:c.497A>T, NM_001352956.1:c.56A>C, NM_001352956.1:c.56A>T, NM_001352941.1:c.473A>C, NM_001352941.1:c.473A>T, NM_001352957.1:c.56A>C, NM_001352957.1:c.56A>T, NM_001352945.1:c.263A>C, NM_001352945.1:c.263A>T, XM_047421649.1:c.56A>C, XM_047421649.1:c.56A>T, NR_104581.1:n.718A>C, NR_104581.1:n.718A>T, XM_047421639.1:c.989A>C, XM_047421639.1:c.989A>T, NM_001352944.1:c.473A>C, NM_001352944.1:c.473A>T, XM_047421650.1:c.497A>C, XM_047421650.1:c.497A>T, XP_011515799.1:p.Gln330Pro, XP_011515799.1:p.Gln330Leu, NP_001073863.1:p.Gln330Pro, NP_001073863.1:p.Gln330Leu, XP_016868760.1:p.Gln270Pro, XP_016868760.1:p.Gln270Leu, XP_016868757.1:p.Gln330Pro, XP_016868757.1:p.Gln330Leu, XP_016868758.1:p.Gln330Pro, XP_016868758.1:p.Gln330Leu, XP_016868759.1:p.Gln290Pro, XP_016868759.1:p.Gln290Leu, XP_047277596.1:p.Gln270Pro, XP_047277596.1:p.Gln270Leu, XP_047277594.1:p.Gln330Pro, XP_047277594.1:p.Gln330Leu, NP_001339878.1:p.Gln111Pro, NP_001339878.1:p.Gln111Leu, XP_047277599.1:p.Gln330Pro, XP_047277599.1:p.Gln330Leu, NP_001339860.1:p.Gln330Pro, NP_001339860.1:p.Gln330Leu, XP_047277600.1:p.Gln290Pro, XP_047277600.1:p.Gln290Leu, NP_001339864.1:p.Gln260Pro, NP_001339864.1:p.Gln260Leu, XP_047277597.1:p.Gln330Pro, XP_047277597.1:p.Gln330Leu, NP_001269848.1:p.Gln270Pro, NP_001269848.1:p.Gln270Leu, NP_001339862.1:p.Gln270Pro, NP_001339862.1:p.Gln270Leu, NP_001269845.1:p.Gln260Pro, NP_001269845.1:p.Gln260Leu, XP_047277598.1:p.Gln290Pro, XP_047277598.1:p.Gln290Leu, XP_047277602.1:p.Gln164Pro, XP_047277602.1:p.Gln164Leu, NP_001339861.1:p.Gln290Pro, NP_001339861.1:p.Gln290Leu, XP_047277601.1:p.Gln166Pro, XP_047277601.1:p.Gln166Leu, XP_047277603.1:p.Gln111Pro, XP_047277603.1:p.Gln111Leu, NP_001339869.1:p.Gln166Pro, NP_001339869.1:p.Gln166Leu, NP_001339863.1:p.Gln330Pro, NP_001339863.1:p.Gln330Leu, NP_001339880.1:p.Gln80Pro, NP_001339880.1:p.Gln80Leu, NP_001339867.1:p.Gln166Pro, NP_001339867.1:p.Gln166Leu, NP_001339866.1:p.Gln270Pro, NP_001339866.1:p.Gln270Leu, NP_001339871.1:p.Gln111Pro, NP_001339871.1:p.Gln111Leu, NP_001339868.1:p.Gln166Pro, NP_001339868.1:p.Gln166Leu, NP_001339876.1:p.Gln80Pro, NP_001339876.1:p.Gln80Leu, NP_001339877.1:p.Gln80Pro, NP_001339877.1:p.Gln80Leu, NP_001339890.1:p.Gln330Pro, NP_001339890.1:p.Gln330Leu, NP_001339875.1:p.Gln80Pro, NP_001339875.1:p.Gln80Leu, NP_001339865.1:p.Gln260Pro, NP_001339865.1:p.Gln260Leu, NP_001339879.1:p.Gln166Pro, NP_001339879.1:p.Gln166Leu, NP_001339884.1:p.Gln19Pro, NP_001339884.1:p.Gln19Leu, XP_047277604.1:p.Gln80Pro, XP_047277604.1:p.Gln80Leu, NP_001339881.1:p.Gln19Pro, NP_001339881.1:p.Gln19Leu, NP_001339882.1:p.Gln19Pro, NP_001339882.1:p.Gln19Leu, NP_001339872.1:p.Gln166Pro, NP_001339872.1:p.Gln166Leu, NP_001339885.1:p.Gln19Pro, NP_001339885.1:p.Gln19Leu, NP_001339870.1:p.Gln158Pro, NP_001339870.1:p.Gln158Leu, NP_001339886.1:p.Gln19Pro, NP_001339886.1:p.Gln19Leu, NP_001339874.1:p.Gln88Pro, NP_001339874.1:p.Gln88Leu, XP_047277605.1:p.Gln19Pro, XP_047277605.1:p.Gln19Leu, XP_047277595.1:p.Gln330Pro, XP_047277595.1:p.Gln330Leu, NP_001339873.1:p.Gln158Pro, NP_001339873.1:p.Gln158Leu, XP_047277606.1:p.Gln166Pro, XP_047277606.1:p.Gln166Leu

                                  17.

                                  rs1470395953 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    8:47595837 (GRCh38)
                                    8:48508399 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:47595836:G:A,NC_000008.11:47595836:G:T
                                    Gene:
                                    SPIDR (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000021/3 (GnomAD)
                                    T=0.000026/7 (TOPMED)
                                    HGVS:
                                    NC_000008.11:g.47595837G>A, NC_000008.11:g.47595837G>T, NC_000008.10:g.48508399G>A, NC_000008.10:g.48508399G>T, XM_011517497.4:c.1124G>A, XM_011517497.4:c.1124G>T, XM_011517497.3:c.1124G>A, XM_011517497.3:c.1124G>T, XM_011517497.2:c.1124G>A, XM_011517497.2:c.1124G>T, XM_011517497.1:c.1124G>A, XM_011517497.1:c.1124G>T, NM_001080394.4:c.1124G>A, NM_001080394.4:c.1124G>T, NM_001080394.3:c.1124G>A, NM_001080394.3:c.1124G>T, NM_001080394.2:c.1124G>A, NM_001080394.2:c.1124G>T, XM_017013271.3:c.944G>A, XM_017013271.3:c.944G>T, XM_017013271.2:c.944G>A, XM_017013271.2:c.944G>T, XM_017013271.1:c.944G>A, XM_017013271.1:c.944G>T, XM_017013268.3:c.1124G>A, XM_017013268.3:c.1124G>T, XM_017013268.2:c.1124G>A, XM_017013268.2:c.1124G>T, XM_017013268.1:c.1124G>A, XM_017013268.1:c.1124G>T, XM_017013269.3:c.1124G>A, XM_017013269.3:c.1124G>T, XM_017013269.2:c.1124G>A, XM_017013269.2:c.1124G>T, XM_017013269.1:c.1124G>A, XM_017013269.1:c.1124G>T, XM_017013270.3:c.1004G>A, XM_017013270.3:c.1004G>T, XM_017013270.2:c.1004G>A, XM_017013270.2:c.1004G>T, XM_017013270.1:c.1004G>A, XM_017013270.1:c.1004G>T, XM_017013273.2:c.653G>A, XM_017013273.2:c.653G>T, XM_017013273.1:c.653G>A, XM_017013273.1:c.653G>T, XM_047421640.1:c.944G>A, XM_047421640.1:c.944G>T, XM_047421638.1:c.1124G>A, XM_047421638.1:c.1124G>T, NR_148202.1:n.1205G>A, NR_148202.1:n.1205G>T, NM_001352949.1:c.467G>A, NM_001352949.1:c.467G>T, NM_001352958.1:c.-125G>A, NM_001352958.1:c.-125G>T, XM_047421643.1:c.1124G>A, XM_047421643.1:c.1124G>T, NM_001352931.1:c.1124G>A, NM_001352931.1:c.1124G>T, XM_047421644.1:c.1004G>A, XM_047421644.1:c.1004G>T, NR_148204.1:n.1205G>A, NR_148204.1:n.1205G>T, NM_001352935.1:c.914G>A, NM_001352935.1:c.914G>T, XM_047421641.1:c.1124G>A, XM_047421641.1:c.1124G>T, NM_001282919.1:c.944G>A, NM_001282919.1:c.944G>T, NM_001352933.1:c.944G>A, NM_001352933.1:c.944G>T, NM_001282916.1:c.914G>A, NM_001282916.1:c.914G>T, XM_047421642.1:c.1004G>A, XM_047421642.1:c.1004G>T, NR_148205.1:n.1205G>A, NR_148205.1:n.1205G>T, XM_047421646.1:c.626G>A, XM_047421646.1:c.626G>T, NM_001352932.1:c.1004G>A, NM_001352932.1:c.1004G>T, XM_047421645.1:c.632G>A, XM_047421645.1:c.632G>T, NR_148203.1:n.1168G>A, NR_148203.1:n.1168G>T, XM_047421647.1:c.467G>A, XM_047421647.1:c.467G>T, NM_001352940.1:c.632G>A, NM_001352940.1:c.632G>T, NM_001352934.1:c.1124G>A, NM_001352934.1:c.1124G>T, NM_001352951.1:c.374G>A, NM_001352951.1:c.374G>T, NM_001352938.1:c.632G>A, NM_001352938.1:c.632G>T, NM_001352937.1:c.944G>A, NM_001352937.1:c.944G>T, NM_001352942.1:c.467G>A, NM_001352942.1:c.467G>T, NM_001352939.1:c.632G>A, NM_001352939.1:c.632G>T, NM_001352947.1:c.374G>A, NM_001352947.1:c.374G>T, NM_001352948.1:c.374G>A, NM_001352948.1:c.374G>T, NM_001352961.1:c.1124G>A, NM_001352961.1:c.1124G>T, NM_001352946.1:c.374G>A, NM_001352946.1:c.374G>T, NM_001352936.1:c.914G>A, NM_001352936.1:c.914G>T, NM_001352950.1:c.632G>A, NM_001352950.1:c.632G>T, NM_001352955.1:c.191G>A, NM_001352955.1:c.191G>T, XM_047421648.1:c.374G>A, XM_047421648.1:c.374G>T, NM_001352952.1:c.191G>A, NM_001352952.1:c.191G>T, NM_001352953.1:c.191G>A, NM_001352953.1:c.191G>T, NM_001352943.1:c.632G>A, NM_001352943.1:c.632G>T, NM_001352956.1:c.191G>A, NM_001352956.1:c.191G>T, NM_001352941.1:c.608G>A, NM_001352941.1:c.608G>T, NM_001352957.1:c.191G>A, NM_001352957.1:c.191G>T, NM_001352945.1:c.398G>A, NM_001352945.1:c.398G>T, XM_047421649.1:c.191G>A, XM_047421649.1:c.191G>T, NR_104581.1:n.853G>A, NR_104581.1:n.853G>T, XM_047421639.1:c.1124G>A, XM_047421639.1:c.1124G>T, XM_047421651.1:c.-125G>A, XM_047421651.1:c.-125G>T, NM_001352944.1:c.608G>A, NM_001352944.1:c.608G>T, XM_047421650.1:c.632G>A, XM_047421650.1:c.632G>T, XM_047421652.1:c.-125G>A, XM_047421652.1:c.-125G>T, XP_011515799.1:p.Ser375Asn, XP_011515799.1:p.Ser375Ile, NP_001073863.1:p.Ser375Asn, NP_001073863.1:p.Ser375Ile, XP_016868760.1:p.Ser315Asn, XP_016868760.1:p.Ser315Ile, XP_016868757.1:p.Ser375Asn, XP_016868757.1:p.Ser375Ile, XP_016868758.1:p.Ser375Asn, XP_016868758.1:p.Ser375Ile, XP_016868759.1:p.Ser335Asn, XP_016868759.1:p.Ser335Ile, XP_016868762.1:p.Ser218Asn, XP_016868762.1:p.Ser218Ile, XP_047277596.1:p.Ser315Asn, XP_047277596.1:p.Ser315Ile, XP_047277594.1:p.Ser375Asn, XP_047277594.1:p.Ser375Ile, NP_001339878.1:p.Ser156Asn, NP_001339878.1:p.Ser156Ile, XP_047277599.1:p.Ser375Asn, XP_047277599.1:p.Ser375Ile, NP_001339860.1:p.Ser375Asn, NP_001339860.1:p.Ser375Ile, XP_047277600.1:p.Ser335Asn, XP_047277600.1:p.Ser335Ile, NP_001339864.1:p.Ser305Asn, NP_001339864.1:p.Ser305Ile, XP_047277597.1:p.Ser375Asn, XP_047277597.1:p.Ser375Ile, NP_001269848.1:p.Ser315Asn, NP_001269848.1:p.Ser315Ile, NP_001339862.1:p.Ser315Asn, NP_001339862.1:p.Ser315Ile, NP_001269845.1:p.Ser305Asn, NP_001269845.1:p.Ser305Ile, XP_047277598.1:p.Ser335Asn, XP_047277598.1:p.Ser335Ile, XP_047277602.1:p.Ser209Asn, XP_047277602.1:p.Ser209Ile, NP_001339861.1:p.Ser335Asn, NP_001339861.1:p.Ser335Ile, XP_047277601.1:p.Ser211Asn, XP_047277601.1:p.Ser211Ile, XP_047277603.1:p.Ser156Asn, XP_047277603.1:p.Ser156Ile, NP_001339869.1:p.Ser211Asn, NP_001339869.1:p.Ser211Ile, NP_001339863.1:p.Ser375Asn, NP_001339863.1:p.Ser375Ile, NP_001339880.1:p.Ser125Asn, NP_001339880.1:p.Ser125Ile, NP_001339867.1:p.Ser211Asn, NP_001339867.1:p.Ser211Ile, NP_001339866.1:p.Ser315Asn, NP_001339866.1:p.Ser315Ile, NP_001339871.1:p.Ser156Asn, NP_001339871.1:p.Ser156Ile, NP_001339868.1:p.Ser211Asn, NP_001339868.1:p.Ser211Ile, NP_001339876.1:p.Ser125Asn, NP_001339876.1:p.Ser125Ile, NP_001339877.1:p.Ser125Asn, NP_001339877.1:p.Ser125Ile, NP_001339890.1:p.Ser375Asn, NP_001339890.1:p.Ser375Ile, NP_001339875.1:p.Ser125Asn, NP_001339875.1:p.Ser125Ile, NP_001339865.1:p.Ser305Asn, NP_001339865.1:p.Ser305Ile, NP_001339879.1:p.Ser211Asn, NP_001339879.1:p.Ser211Ile, NP_001339884.1:p.Ser64Asn, NP_001339884.1:p.Ser64Ile, XP_047277604.1:p.Ser125Asn, XP_047277604.1:p.Ser125Ile, NP_001339881.1:p.Ser64Asn, NP_001339881.1:p.Ser64Ile, NP_001339882.1:p.Ser64Asn, NP_001339882.1:p.Ser64Ile, NP_001339872.1:p.Ser211Asn, NP_001339872.1:p.Ser211Ile, NP_001339885.1:p.Ser64Asn, NP_001339885.1:p.Ser64Ile, NP_001339870.1:p.Ser203Asn, NP_001339870.1:p.Ser203Ile, NP_001339886.1:p.Ser64Asn, NP_001339886.1:p.Ser64Ile, NP_001339874.1:p.Ser133Asn, NP_001339874.1:p.Ser133Ile, XP_047277605.1:p.Ser64Asn, XP_047277605.1:p.Ser64Ile, XP_047277595.1:p.Ser375Asn, XP_047277595.1:p.Ser375Ile, NP_001339873.1:p.Ser203Asn, NP_001339873.1:p.Ser203Ile, XP_047277606.1:p.Ser211Asn, XP_047277606.1:p.Ser211Ile

                                    18.

                                    rs1468870964 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      8:47291059 (GRCh38)
                                      8:48203648 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:47291058:G:A
                                      Gene:
                                      SPIDR (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000008.11:g.47291059G>A, NW_004775431.1:g.27217G>A, NT_113909.1:g.15863C>T, NC_000008.10:g.48203648G>A, XM_011517497.4:c.283G>A, XM_011517497.3:c.283G>A, XM_011517497.2:c.283G>A, XM_011517497.1:c.283G>A, NM_001080394.4:c.283G>A, NM_001080394.3:c.283G>A, NM_001080394.2:c.283G>A, XM_017013271.3:c.103G>A, XM_017013271.2:c.103G>A, XM_017013271.1:c.103G>A, XM_017013268.3:c.283G>A, XM_017013268.2:c.283G>A, XM_017013268.1:c.283G>A, XM_017013269.3:c.283G>A, XM_017013269.2:c.283G>A, XM_017013269.1:c.283G>A, XM_017013270.3:c.283G>A, XM_017013270.2:c.283G>A, XM_017013270.1:c.283G>A, XM_017013273.2:c.283G>A, XM_017013273.1:c.283G>A, XM_047421640.1:c.103G>A, XM_047421638.1:c.283G>A, NR_148202.1:n.364G>A, NM_001352949.1:c.-419G>A, NM_001352958.1:c.-1045G>A, XM_047421643.1:c.283G>A, NM_001352931.1:c.283G>A, XM_047421644.1:c.283G>A, NR_148204.1:n.364G>A, NM_001352935.1:c.73G>A, XM_047421641.1:c.283G>A, NM_001282919.1:c.103G>A, NM_001352933.1:c.103G>A, NM_001282916.1:c.73G>A, XM_047421642.1:c.283G>A, NR_148205.1:n.364G>A, NM_001352932.1:c.283G>A, XM_047421645.1:c.-46G>A, NR_148203.1:n.327G>A, NM_001352940.1:c.-46G>A, NM_001352934.1:c.283G>A, NM_001352951.1:c.-217G>A, NM_001352938.1:c.-46G>A, NM_001352937.1:c.103G>A, NM_001352942.1:c.-375G>A, NM_001352939.1:c.-46G>A, NM_001352947.1:c.-217G>A, NM_001352948.1:c.-217G>A, NM_001352961.1:c.283G>A, NM_001352946.1:c.-217G>A, NM_001352936.1:c.73G>A, NM_001352950.1:c.-46G>A, NM_001352955.1:c.-299G>A, NM_001352952.1:c.-236G>A, NM_001352953.1:c.-299G>A, NM_001352943.1:c.-46G>A, NM_001352956.1:c.-236G>A, NM_001352941.1:c.283G>A, NM_001352957.1:c.-299G>A, NM_001352945.1:c.73G>A, NR_104581.1:n.364G>A, XM_047421639.1:c.283G>A, NM_001352944.1:c.283G>A, XM_047421650.1:c.-46G>A, NM_018613.1:c.-405G>A, XP_011515799.1:p.Gly95Arg, NP_001073863.1:p.Gly95Arg, XP_016868760.1:p.Gly35Arg, XP_016868757.1:p.Gly95Arg, XP_016868758.1:p.Gly95Arg, XP_016868759.1:p.Gly95Arg, XP_016868762.1:p.Gly95Arg, XP_047277596.1:p.Gly35Arg, XP_047277594.1:p.Gly95Arg, XP_047277599.1:p.Gly95Arg, NP_001339860.1:p.Gly95Arg, XP_047277600.1:p.Gly95Arg, NP_001339864.1:p.Gly25Arg, XP_047277597.1:p.Gly95Arg, NP_001269848.1:p.Gly35Arg, NP_001339862.1:p.Gly35Arg, NP_001269845.1:p.Gly25Arg, XP_047277598.1:p.Gly95Arg, NP_001339861.1:p.Gly95Arg, NP_001339863.1:p.Gly95Arg, NP_001339866.1:p.Gly35Arg, NP_001339890.1:p.Gly95Arg, NP_001339865.1:p.Gly25Arg, NP_001339870.1:p.Gly95Arg, NP_001339874.1:p.Gly25Arg, XP_047277595.1:p.Gly95Arg, NP_001339873.1:p.Gly95Arg

                                      19.

                                      rs1468826999 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        8:47407874 (GRCh38)
                                        8:48320436 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:47407873:G:T
                                        Gene:
                                        SPIDR (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant,stop_gained,non_coding_transcript_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_000008.11:g.47407874G>T, NW_004775431.1:g.144032G>T, NC_000008.10:g.48320436G>T, XM_011517497.4:c.790G>T, XM_011517497.3:c.790G>T, XM_011517497.2:c.790G>T, XM_011517497.1:c.790G>T, NM_001080394.4:c.790G>T, NM_001080394.3:c.790G>T, NM_001080394.2:c.790G>T, XM_017013271.3:c.610G>T, XM_017013271.2:c.610G>T, XM_017013271.1:c.610G>T, XM_017013268.3:c.790G>T, XM_017013268.2:c.790G>T, XM_017013268.1:c.790G>T, XM_017013269.3:c.790G>T, XM_017013269.2:c.790G>T, XM_017013269.1:c.790G>T, XM_017013270.3:c.670G>T, XM_017013270.2:c.670G>T, XM_017013270.1:c.670G>T, XM_017013273.2:c.539G>T, XM_017013273.1:c.539G>T, XM_047421640.1:c.610G>T, XM_047421638.1:c.790G>T, NR_148202.1:n.871G>T, NM_001352949.1:c.133G>T, NM_001352958.1:c.-494G>T, XM_047421643.1:c.790G>T, NM_001352931.1:c.790G>T, XM_047421644.1:c.670G>T, NR_148204.1:n.871G>T, NM_001352935.1:c.580G>T, XM_047421641.1:c.790G>T, NM_001282919.1:c.610G>T, NM_001352933.1:c.610G>T, NM_001282916.1:c.580G>T, XM_047421642.1:c.670G>T, NR_148205.1:n.871G>T, XM_047421646.1:c.292G>T, NM_001352932.1:c.670G>T, XM_047421645.1:c.298G>T, NR_148203.1:n.834G>T, XM_047421647.1:c.133G>T, NM_001352940.1:c.298G>T, NM_001352934.1:c.790G>T, NM_001352951.1:c.40G>T, NM_001352938.1:c.298G>T, NM_001352937.1:c.610G>T, NM_001352942.1:c.133G>T, NM_001352939.1:c.298G>T, NM_001352947.1:c.40G>T, NM_001352948.1:c.40G>T, NM_001352961.1:c.790G>T, NM_001352946.1:c.40G>T, NM_001352936.1:c.580G>T, NM_001352950.1:c.298G>T, XM_047421648.1:c.40G>T, NM_001352952.1:c.-144G>T, NM_001352943.1:c.298G>T, NM_001352956.1:c.-144G>T, XM_047421639.1:c.790G>T, XM_047421650.1:c.298G>T, XP_011515799.1:p.Glu264Ter, NP_001073863.1:p.Glu264Ter, XP_016868760.1:p.Glu204Ter, XP_016868757.1:p.Glu264Ter, XP_016868758.1:p.Glu264Ter, XP_016868759.1:p.Glu224Ter, XP_016868762.1:p.Arg180Ile, XP_047277596.1:p.Glu204Ter, XP_047277594.1:p.Glu264Ter, NP_001339878.1:p.Glu45Ter, XP_047277599.1:p.Glu264Ter, NP_001339860.1:p.Glu264Ter, XP_047277600.1:p.Glu224Ter, NP_001339864.1:p.Glu194Ter, XP_047277597.1:p.Glu264Ter, NP_001269848.1:p.Glu204Ter, NP_001339862.1:p.Glu204Ter, NP_001269845.1:p.Glu194Ter, XP_047277598.1:p.Glu224Ter, XP_047277602.1:p.Glu98Ter, NP_001339861.1:p.Glu224Ter, XP_047277601.1:p.Glu100Ter, XP_047277603.1:p.Glu45Ter, NP_001339869.1:p.Glu100Ter, NP_001339863.1:p.Glu264Ter, NP_001339880.1:p.Glu14Ter, NP_001339867.1:p.Glu100Ter, NP_001339866.1:p.Glu204Ter, NP_001339871.1:p.Glu45Ter, NP_001339868.1:p.Glu100Ter, NP_001339876.1:p.Glu14Ter, NP_001339877.1:p.Glu14Ter, NP_001339890.1:p.Glu264Ter, NP_001339875.1:p.Glu14Ter, NP_001339865.1:p.Glu194Ter, NP_001339879.1:p.Glu100Ter, XP_047277604.1:p.Glu14Ter, NP_001339872.1:p.Glu100Ter, XP_047277595.1:p.Glu264Ter, XP_047277606.1:p.Glu100Ter

                                        20.

                                        rs1465418557 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          8:47293947 (GRCh38)
                                          8:48206536 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:47293946:G:T
                                          Gene:
                                          SPIDR (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000008.11:g.47293947G>T, NW_004775431.1:g.30105G>T, NT_113909.1:g.12975C>A, NC_000008.10:g.48206536G>T, XM_011517497.4:c.442G>T, XM_011517497.3:c.442G>T, XM_011517497.2:c.442G>T, XM_011517497.1:c.442G>T, NM_001080394.4:c.442G>T, NM_001080394.3:c.442G>T, NM_001080394.2:c.442G>T, XM_017013271.3:c.262G>T, XM_017013271.2:c.262G>T, XM_017013271.1:c.262G>T, XM_017013268.3:c.442G>T, XM_017013268.2:c.442G>T, XM_017013268.1:c.442G>T, XM_017013269.3:c.442G>T, XM_017013269.2:c.442G>T, XM_017013269.1:c.442G>T, XM_017013273.2:c.442G>T, XM_017013273.1:c.442G>T, XM_047421640.1:c.262G>T, XM_047421638.1:c.442G>T, NR_148202.1:n.523G>T, NM_001352949.1:c.-260G>T, NM_001352958.1:c.-886G>T, XM_047421643.1:c.442G>T, NM_001352931.1:c.442G>T, NR_148204.1:n.523G>T, NM_001352935.1:c.232G>T, XM_047421641.1:c.442G>T, NM_001282919.1:c.262G>T, NM_001352933.1:c.262G>T, NM_001282916.1:c.232G>T, NR_148205.1:n.523G>T, NR_148203.1:n.486G>T, NM_001352934.1:c.442G>T, NM_001352951.1:c.-58G>T, NM_001352937.1:c.262G>T, NM_001352942.1:c.-216G>T, NM_001352947.1:c.-58G>T, NM_001352948.1:c.-58G>T, NM_001352961.1:c.442G>T, NM_001352946.1:c.-58G>T, NM_001352936.1:c.232G>T, NM_001352955.1:c.-140G>T, XM_047421648.1:c.-58G>T, NM_001352953.1:c.-140G>T, NM_001352957.1:c.-140G>T, NR_104581.1:n.523G>T, XM_047421639.1:c.442G>T, NM_018613.1:c.-246G>T, XP_011515799.1:p.Gly148Cys, NP_001073863.1:p.Gly148Cys, XP_016868760.1:p.Gly88Cys, XP_016868757.1:p.Gly148Cys, XP_016868758.1:p.Gly148Cys, XP_016868762.1:p.Gly148Cys, XP_047277596.1:p.Gly88Cys, XP_047277594.1:p.Gly148Cys, XP_047277599.1:p.Gly148Cys, NP_001339860.1:p.Gly148Cys, NP_001339864.1:p.Gly78Cys, XP_047277597.1:p.Gly148Cys, NP_001269848.1:p.Gly88Cys, NP_001339862.1:p.Gly88Cys, NP_001269845.1:p.Gly78Cys, NP_001339863.1:p.Gly148Cys, NP_001339866.1:p.Gly88Cys, NP_001339890.1:p.Gly148Cys, NP_001339865.1:p.Gly78Cys, XP_047277595.1:p.Gly148Cys

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...