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Items: 1 to 20 of 117

1.

rs1485284962 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    12:98798946 (GRCh38)
    12:99192724 (GRCh37)
    Canonical SPDI:
    NC_000012.12:98798945:A:G
    Gene:
    ANKS1B (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000012.12:g.98798946A>G, NC_000012.11:g.99192724A>G, NG_029860.2:g.1190709T>C, NM_152788.4:c.3255T>C, NM_181670.4:c.1005T>C, NM_181670.3:c.1005T>C, NM_020140.4:c.753T>C, NM_020140.3:c.753T>C, NM_001352186.2:c.3330T>C, NM_001352186.1:c.3330T>C, NM_001352200.2:c.1008T>C, NM_001352200.1:c.1008T>C, NM_001352198.2:c.1008T>C, NM_001352198.1:c.1008T>C, NM_001352205.2:c.1008T>C, NM_001352205.1:c.1008T>C, NM_001352195.2:c.1005T>C, NM_001352195.1:c.1005T>C, NM_001204068.2:c.933T>C, NM_001204068.1:c.933T>C, NM_001352204.2:c.933T>C, NM_001352204.1:c.933T>C, NM_001352202.2:c.933T>C, NM_001352202.1:c.933T>C, NM_001204069.2:c.825T>C, NM_001204069.1:c.825T>C, NM_001352206.2:c.825T>C, NM_001352206.1:c.825T>C, NM_001204070.2:c.753T>C, NM_001204070.1:c.753T>C, NM_001352199.2:c.753T>C, NM_001352199.1:c.753T>C, NM_001352203.2:c.720T>C, NM_001352203.1:c.720T>C, NM_001352193.2:c.762T>C, NM_001352193.1:c.762T>C, NM_001352192.2:c.762T>C, NM_001352192.1:c.762T>C, NM_001352194.2:c.645T>C, NM_001352194.1:c.645T>C, NM_001352201.2:c.645T>C, NM_001352201.1:c.645T>C, NM_001352191.2:c.582T>C, NM_001352191.1:c.582T>C, NM_001204067.2:c.660T>C, NM_001204067.1:c.660T>C, NM_001204066.2:c.549T>C, NM_001204066.1:c.549T>C, NM_001352208.2:c.345T>C, NM_001352208.1:c.345T>C, NM_001352219.2:c.348T>C, NM_001352219.1:c.348T>C, NM_001204079.2:c.348T>C, NM_001204079.1:c.348T>C, NM_001204065.2:c.345T>C, NM_001204065.1:c.345T>C, NM_001352222.2:c.345T>C, NM_001352222.1:c.345T>C, NM_001352207.2:c.273T>C, NM_001352207.1:c.273T>C, NM_001352209.2:c.273T>C, NM_001352209.1:c.273T>C, NM_001204080.2:c.273T>C, NM_001204080.1:c.273T>C, NM_001352221.2:c.273T>C, NM_001352221.1:c.273T>C, NM_001352210.2:c.198T>C, NM_001352210.1:c.198T>C, NM_001352225.2:c.198T>C, NM_001352225.1:c.198T>C, NM_001352218.2:c.48T>C, NM_001352218.1:c.48T>C, NM_001352212.2:c.48T>C, NM_001352212.1:c.48T>C, NM_001352220.2:c.48T>C, NM_001352220.1:c.48T>C, NM_001352217.2:c.48T>C, NM_001352217.1:c.48T>C, NM_001352211.2:c.48T>C, NM_001352211.1:c.48T>C, NM_001352224.2:c.48T>C, NM_001352224.1:c.48T>C, NM_001352196.2:c.1005T>C, NM_001352196.1:c.1005T>C, NM_001352197.2:c.933T>C, NM_001352197.1:c.933T>C, NM_001352223.2:c.348T>C, NM_001352223.1:c.348T>C, NM_001204081.2:c.273T>C, NM_001204081.1:c.273T>C, NM_001352214.2:c.48T>C, NM_001352214.1:c.48T>C, NM_001352213.2:c.48T>C, NM_001352213.1:c.48T>C, NM_001352216.2:c.48T>C, NM_001352216.1:c.48T>C, NM_001352188.1:c.3327T>C, NM_001352187.1:c.3255T>C, NM_001352185.1:c.3255T>C, NM_001352190.1:c.915T>C, NM_001352189.1:c.912T>C, XM_005269029.6:c.3243T>C, XM_005269029.5:c.3243T>C, XM_005269029.4:c.3243T>C, XM_005269029.3:c.3243T>C, XM_005269029.2:c.3243T>C, XM_005269029.1:c.3243T>C, XM_006719508.5:c.3330T>C, XM_006719508.4:c.3330T>C, XM_006719508.3:c.3330T>C, XM_006719508.2:c.3330T>C, XM_006719508.1:c.3330T>C, XM_006719510.5:c.3255T>C, XM_006719510.4:c.3255T>C, XM_006719510.3:c.3255T>C, XM_006719510.2:c.3255T>C, XM_006719510.1:c.3255T>C, XM_006719505.5:c.3330T>C, XM_006719505.4:c.3330T>C, XM_006719505.3:c.3330T>C, XM_006719505.2:c.3330T>C, XM_006719505.1:c.3330T>C, XM_006719504.5:c.3327T>C, XM_006719504.4:c.3327T>C, XM_006719504.3:c.3327T>C, XM_006719504.2:c.3327T>C, XM_006719504.1:c.3327T>C, XM_006719512.5:c.3075T>C, XM_006719512.4:c.3075T>C, XM_006719512.3:c.3075T>C, XM_006719512.2:c.3075T>C, XM_006719512.1:c.3075T>C, XM_006719513.5:c.3075T>C, XM_006719513.4:c.3075T>C, XM_006719513.3:c.3075T>C, XM_006719513.2:c.3075T>C, XM_006719513.1:c.3075T>C, XM_006719507.5:c.3330T>C, XM_006719507.4:c.3330T>C, XM_006719507.3:c.3330T>C, XM_006719507.2:c.3330T>C, XM_006719507.1:c.3330T>C, XM_006719514.5:c.3063T>C, XM_006719514.4:c.3063T>C, XM_006719514.3:c.3063T>C, XM_006719514.2:c.3063T>C, XM_006719514.1:c.3063T>C, XM_011538571.4:c.3228T>C, XM_011538571.3:c.3228T>C, XM_011538571.2:c.3228T>C, XM_011538571.1:c.3228T>C, XM_017019652.3:c.3318T>C, XM_017019652.2:c.3318T>C, XM_017019652.1:c.3318T>C, XM_024449061.2:c.2226T>C, XM_024449061.1:c.2226T>C, XM_024449060.2:c.2070T>C, XM_024449060.1:c.2070T>C, XM_024449069.2:c.837T>C, XM_024449069.1:c.837T>C, XM_024449065.2:c.915T>C, XM_024449065.1:c.915T>C, XM_047429165.1:c.2070T>C, XM_047429166.1:c.2070T>C, XM_047429167.1:c.2070T>C, XM_047429168.1:c.903T>C, XM_047429169.1:c.837T>C, XM_047429170.1:c.345T>C

    2.

    rs1484789376 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      12:98735629 (GRCh38)
      12:99129407 (GRCh37)
      Canonical SPDI:
      NC_000012.12:98735628:A:G
      Gene:
      APAF1 (Varview), ANKS1B (Varview)
      Functional Consequence:
      500B_downstream_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.000062/2 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000008/2 (GnomAD_exomes)
      HGVS:

      3.

      rs1484449191 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        12:98751384 (GRCh38)
        12:99145162 (GRCh37)
        Canonical SPDI:
        NC_000012.12:98751383:T:G
        Gene:
        ANKS1B (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000012.12:g.98751384T>G, NC_000012.11:g.99145162T>G, NG_029860.2:g.1238271A>C, NM_152788.4:c.3643A>C, NM_181670.4:c.1393A>C, NM_181670.3:c.1393A>C, NM_020140.4:c.1141A>C, NM_020140.3:c.1141A>C, NM_001352186.2:c.3718A>C, NM_001352186.1:c.3718A>C, NM_001352200.2:c.1396A>C, NM_001352200.1:c.1396A>C, NM_001352198.2:c.1396A>C, NM_001352198.1:c.1396A>C, NM_001352205.2:c.1396A>C, NM_001352205.1:c.1396A>C, NM_001352195.2:c.1393A>C, NM_001352195.1:c.1393A>C, NM_001204068.2:c.1321A>C, NM_001204068.1:c.1321A>C, NM_001352204.2:c.1321A>C, NM_001352204.1:c.1321A>C, NM_001352202.2:c.1321A>C, NM_001352202.1:c.1321A>C, NM_001204069.2:c.1213A>C, NM_001204069.1:c.1213A>C, NM_001352206.2:c.1213A>C, NM_001352206.1:c.1213A>C, NM_001204070.2:c.1141A>C, NM_001204070.1:c.1141A>C, NM_001352199.2:c.1141A>C, NM_001352199.1:c.1141A>C, NM_001352203.2:c.1108A>C, NM_001352203.1:c.1108A>C, NM_001352193.2:c.1150A>C, NM_001352193.1:c.1150A>C, NM_001352192.2:c.1150A>C, NM_001352192.1:c.1150A>C, NM_001352194.2:c.1033A>C, NM_001352194.1:c.1033A>C, NM_001352201.2:c.1033A>C, NM_001352201.1:c.1033A>C, NM_001352191.2:c.970A>C, NM_001352191.1:c.970A>C, NM_001204067.2:c.1048A>C, NM_001204067.1:c.1048A>C, NM_001204066.2:c.937A>C, NM_001204066.1:c.937A>C, NM_001352208.2:c.733A>C, NM_001352208.1:c.733A>C, NM_001352219.2:c.736A>C, NM_001352219.1:c.736A>C, NM_001204079.2:c.736A>C, NM_001204079.1:c.736A>C, NM_001204065.2:c.733A>C, NM_001204065.1:c.733A>C, NM_001352222.2:c.733A>C, NM_001352222.1:c.733A>C, NM_001352207.2:c.661A>C, NM_001352207.1:c.661A>C, NM_001352209.2:c.661A>C, NM_001352209.1:c.661A>C, NM_001204080.2:c.661A>C, NM_001204080.1:c.661A>C, NM_001352221.2:c.661A>C, NM_001352221.1:c.661A>C, NM_001352210.2:c.586A>C, NM_001352210.1:c.586A>C, NM_001352225.2:c.586A>C, NM_001352225.1:c.586A>C, NM_001352218.2:c.436A>C, NM_001352218.1:c.436A>C, NM_001352212.2:c.436A>C, NM_001352212.1:c.436A>C, NM_001352220.2:c.436A>C, NM_001352220.1:c.436A>C, NM_001352217.2:c.436A>C, NM_001352217.1:c.436A>C, NM_001352211.2:c.436A>C, NM_001352211.1:c.436A>C, NM_001352224.2:c.436A>C, NM_001352224.1:c.436A>C, NM_001352196.2:c.1393A>C, NM_001352196.1:c.1393A>C, NM_001352197.2:c.1321A>C, NM_001352197.1:c.1321A>C, NM_001352223.2:c.736A>C, NM_001352223.1:c.736A>C, NM_001204081.2:c.661A>C, NM_001204081.1:c.661A>C, NM_001352214.2:c.436A>C, NM_001352214.1:c.436A>C, NM_001352213.2:c.436A>C, NM_001352213.1:c.436A>C, NM_001352216.2:c.436A>C, NM_001352216.1:c.436A>C, NM_001352188.1:c.3715A>C, NM_001352187.1:c.3643A>C, NM_001352185.1:c.3643A>C, NM_001352190.1:c.1303A>C, NM_001352189.1:c.1300A>C, XM_005269029.6:c.3631A>C, XM_005269029.5:c.3631A>C, XM_005269029.4:c.3631A>C, XM_005269029.3:c.3631A>C, XM_005269029.2:c.3631A>C, XM_005269029.1:c.3631A>C, XM_006719508.5:c.3718A>C, XM_006719508.4:c.3718A>C, XM_006719508.3:c.3718A>C, XM_006719508.2:c.3718A>C, XM_006719508.1:c.3718A>C, XM_006719510.5:c.3643A>C, XM_006719510.4:c.3643A>C, XM_006719510.3:c.3643A>C, XM_006719510.2:c.3643A>C, XM_006719510.1:c.3643A>C, XM_006719505.5:c.3718A>C, XM_006719505.4:c.3718A>C, XM_006719505.3:c.3718A>C, XM_006719505.2:c.3718A>C, XM_006719505.1:c.3718A>C, XM_006719504.5:c.3715A>C, XM_006719504.4:c.3715A>C, XM_006719504.3:c.3715A>C, XM_006719504.2:c.3715A>C, XM_006719504.1:c.3715A>C, XM_006719512.5:c.3463A>C, XM_006719512.4:c.3463A>C, XM_006719512.3:c.3463A>C, XM_006719512.2:c.3463A>C, XM_006719512.1:c.3463A>C, XM_006719513.5:c.3463A>C, XM_006719513.4:c.3463A>C, XM_006719513.3:c.3463A>C, XM_006719513.2:c.3463A>C, XM_006719513.1:c.3463A>C, XM_006719507.5:c.3718A>C, XM_006719507.4:c.3718A>C, XM_006719507.3:c.3718A>C, XM_006719507.2:c.3718A>C, XM_006719507.1:c.3718A>C, XM_006719514.5:c.3451A>C, XM_006719514.4:c.3451A>C, XM_006719514.3:c.3451A>C, XM_006719514.2:c.3451A>C, XM_006719514.1:c.3451A>C, XM_011538571.4:c.3616A>C, XM_011538571.3:c.3616A>C, XM_011538571.2:c.3616A>C, XM_011538571.1:c.3616A>C, XM_017019652.3:c.3706A>C, XM_017019652.2:c.3706A>C, XM_017019652.1:c.3706A>C, XM_024449061.2:c.2614A>C, XM_024449061.1:c.2614A>C, XM_024449060.2:c.2458A>C, XM_024449060.1:c.2458A>C, XM_024449069.2:c.1225A>C, XM_024449069.1:c.1225A>C, XM_024449065.2:c.1303A>C, XM_024449065.1:c.1303A>C, XM_047429165.1:c.2458A>C, XM_047429166.1:c.2458A>C, XM_047429167.1:c.2458A>C, XM_047429168.1:c.1291A>C, XM_047429169.1:c.1225A>C, XM_047429170.1:c.733A>C, NP_690001.3:p.Lys1215Gln, NP_858056.2:p.Lys465Gln, NP_064525.1:p.Lys381Gln, NP_001339115.1:p.Lys1240Gln, NP_001339129.1:p.Lys466Gln, NP_001339127.1:p.Lys466Gln, NP_001339134.1:p.Lys466Gln, NP_001339124.1:p.Lys465Gln, NP_001190997.1:p.Lys441Gln, NP_001339133.1:p.Lys441Gln, NP_001339131.1:p.Lys441Gln, NP_001190998.1:p.Lys405Gln, NP_001339135.1:p.Lys405Gln, NP_001190999.1:p.Lys381Gln, NP_001339128.1:p.Lys381Gln, NP_001339132.1:p.Lys370Gln, NP_001339122.1:p.Lys384Gln, NP_001339121.1:p.Lys384Gln, NP_001339123.1:p.Lys345Gln, NP_001339130.1:p.Lys345Gln, NP_001339120.1:p.Lys324Gln, NP_001190996.1:p.Lys350Gln, NP_001190995.1:p.Lys313Gln, NP_001339137.1:p.Lys245Gln, NP_001339148.1:p.Lys246Gln, NP_001191008.1:p.Lys246Gln, NP_001190994.1:p.Lys245Gln, NP_001339151.1:p.Lys245Gln, NP_001339136.1:p.Lys221Gln, NP_001339138.1:p.Lys221Gln, NP_001191009.1:p.Lys221Gln, NP_001339150.1:p.Lys221Gln, NP_001339139.1:p.Lys196Gln, NP_001339154.1:p.Lys196Gln, NP_001339147.1:p.Lys146Gln, NP_001339141.1:p.Lys146Gln, NP_001339149.1:p.Lys146Gln, NP_001339146.1:p.Lys146Gln, NP_001339140.1:p.Lys146Gln, NP_001339153.1:p.Lys146Gln, NP_001339125.1:p.Lys465Gln, NP_001339126.1:p.Lys441Gln, NP_001339152.1:p.Lys246Gln, NP_001191010.1:p.Lys221Gln, NP_001339143.1:p.Lys146Gln, NP_001339142.1:p.Lys146Gln, NP_001339145.1:p.Lys146Gln, NP_001339117.1:p.Lys1239Gln, NP_001339116.1:p.Lys1215Gln, NP_001339114.1:p.Lys1215Gln, NP_001339119.1:p.Lys435Gln, NP_001339118.1:p.Lys434Gln, XP_005269086.1:p.Lys1211Gln, XP_006719571.1:p.Lys1240Gln, XP_006719573.1:p.Lys1215Gln, XP_006719568.1:p.Lys1240Gln, XP_006719567.1:p.Lys1239Gln, XP_006719575.1:p.Lys1155Gln, XP_006719576.1:p.Lys1155Gln, XP_006719570.1:p.Lys1240Gln, XP_006719577.1:p.Lys1151Gln, XP_011536873.1:p.Lys1206Gln, XP_016875141.1:p.Lys1236Gln, XP_024304829.1:p.Lys872Gln, XP_024304828.1:p.Lys820Gln, XP_024304837.1:p.Lys409Gln, XP_024304833.1:p.Lys435Gln, XP_047285121.1:p.Lys820Gln, XP_047285122.1:p.Lys820Gln, XP_047285123.1:p.Lys820Gln, XP_047285124.1:p.Lys431Gln, XP_047285125.1:p.Lys409Gln, XP_047285126.1:p.Lys245Gln

        4.

        rs1480776422 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          12:98735588 (GRCh38)
          12:99129366 (GRCh37)
          Canonical SPDI:
          NC_000012.12:98735587:T:A
          Gene:
          APAF1 (Varview), ANKS1B (Varview)
          Functional Consequence:
          downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000019/5 (TOPMED)
          HGVS:
          NC_000012.12:g.98735588T>A, NC_000012.11:g.99129366T>A, NG_029860.2:g.1254067A>T, NM_152788.4:c.3719A>T, NM_020140.4:c.1217A>T, NM_020140.3:c.1217A>T, NM_001352196.2:c.1469A>T, NM_001352196.1:c.1469A>T, NM_001352197.2:c.1397A>T, NM_001352197.1:c.1397A>T, NM_001352223.2:c.812A>T, NM_001352223.1:c.812A>T, NM_001204081.2:c.737A>T, NM_001204081.1:c.737A>T, NM_001352214.2:c.512A>T, NM_001352214.1:c.512A>T, NM_001352213.2:c.512A>T, NM_001352213.1:c.512A>T, NM_001352216.2:c.512A>T, NM_001352216.1:c.512A>T, NG_029094.1:g.95289T>A, XM_006719507.5:c.3794A>T, XM_006719507.4:c.3794A>T, XM_006719507.3:c.3794A>T, XM_006719507.2:c.3794A>T, XM_006719507.1:c.3794A>T, XM_006719514.5:c.3527A>T, XM_006719514.4:c.3527A>T, XM_006719514.3:c.3527A>T, XM_006719514.2:c.3527A>T, XM_006719514.1:c.3527A>T, NP_690001.3:p.His1240Leu, NP_064525.1:p.His406Leu, NP_001339125.1:p.His490Leu, NP_001339126.1:p.His466Leu, NP_001339152.1:p.His271Leu, NP_001191010.1:p.His246Leu, NP_001339143.1:p.His171Leu, NP_001339142.1:p.His171Leu, NP_001339145.1:p.His171Leu, XP_006719570.1:p.His1265Leu, XP_006719577.1:p.His1176Leu

          5.

          rs1471605215 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            12:98798945 (GRCh38)
            12:99192723 (GRCh37)
            Canonical SPDI:
            NC_000012.12:98798944:C:T
            Gene:
            ANKS1B (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            T=0.000004/1 (TOPMED)
            T=0.000014/2 (GnomAD)
            HGVS:
            NC_000012.12:g.98798945C>T, NC_000012.11:g.99192723C>T, NG_029860.2:g.1190710G>A, NM_152788.4:c.3256G>A, NM_181670.4:c.1006G>A, NM_181670.3:c.1006G>A, NM_020140.4:c.754G>A, NM_020140.3:c.754G>A, NM_001352186.2:c.3331G>A, NM_001352186.1:c.3331G>A, NM_001352200.2:c.1009G>A, NM_001352200.1:c.1009G>A, NM_001352198.2:c.1009G>A, NM_001352198.1:c.1009G>A, NM_001352205.2:c.1009G>A, NM_001352205.1:c.1009G>A, NM_001352195.2:c.1006G>A, NM_001352195.1:c.1006G>A, NM_001204068.2:c.934G>A, NM_001204068.1:c.934G>A, NM_001352204.2:c.934G>A, NM_001352204.1:c.934G>A, NM_001352202.2:c.934G>A, NM_001352202.1:c.934G>A, NM_001204069.2:c.826G>A, NM_001204069.1:c.826G>A, NM_001352206.2:c.826G>A, NM_001352206.1:c.826G>A, NM_001204070.2:c.754G>A, NM_001204070.1:c.754G>A, NM_001352199.2:c.754G>A, NM_001352199.1:c.754G>A, NM_001352203.2:c.721G>A, NM_001352203.1:c.721G>A, NM_001352193.2:c.763G>A, NM_001352193.1:c.763G>A, NM_001352192.2:c.763G>A, NM_001352192.1:c.763G>A, NM_001352194.2:c.646G>A, NM_001352194.1:c.646G>A, NM_001352201.2:c.646G>A, NM_001352201.1:c.646G>A, NM_001352191.2:c.583G>A, NM_001352191.1:c.583G>A, NM_001204067.2:c.661G>A, NM_001204067.1:c.661G>A, NM_001204066.2:c.550G>A, NM_001204066.1:c.550G>A, NM_001352208.2:c.346G>A, NM_001352208.1:c.346G>A, NM_001352219.2:c.349G>A, NM_001352219.1:c.349G>A, NM_001204079.2:c.349G>A, NM_001204079.1:c.349G>A, NM_001204065.2:c.346G>A, NM_001204065.1:c.346G>A, NM_001352222.2:c.346G>A, NM_001352222.1:c.346G>A, NM_001352207.2:c.274G>A, NM_001352207.1:c.274G>A, NM_001352209.2:c.274G>A, NM_001352209.1:c.274G>A, NM_001204080.2:c.274G>A, NM_001204080.1:c.274G>A, NM_001352221.2:c.274G>A, NM_001352221.1:c.274G>A, NM_001352210.2:c.199G>A, NM_001352210.1:c.199G>A, NM_001352225.2:c.199G>A, NM_001352225.1:c.199G>A, NM_001352218.2:c.49G>A, NM_001352218.1:c.49G>A, NM_001352212.2:c.49G>A, NM_001352212.1:c.49G>A, NM_001352220.2:c.49G>A, NM_001352220.1:c.49G>A, NM_001352217.2:c.49G>A, NM_001352217.1:c.49G>A, NM_001352211.2:c.49G>A, NM_001352211.1:c.49G>A, NM_001352224.2:c.49G>A, NM_001352224.1:c.49G>A, NM_001352196.2:c.1006G>A, NM_001352196.1:c.1006G>A, NM_001352197.2:c.934G>A, NM_001352197.1:c.934G>A, NM_001352223.2:c.349G>A, NM_001352223.1:c.349G>A, NM_001204081.2:c.274G>A, NM_001204081.1:c.274G>A, NM_001352214.2:c.49G>A, NM_001352214.1:c.49G>A, NM_001352213.2:c.49G>A, NM_001352213.1:c.49G>A, NM_001352216.2:c.49G>A, NM_001352216.1:c.49G>A, NM_001352188.1:c.3328G>A, NM_001352187.1:c.3256G>A, NM_001352185.1:c.3256G>A, NM_001352190.1:c.916G>A, NM_001352189.1:c.913G>A, XM_005269029.6:c.3244G>A, XM_005269029.5:c.3244G>A, XM_005269029.4:c.3244G>A, XM_005269029.3:c.3244G>A, XM_005269029.2:c.3244G>A, XM_005269029.1:c.3244G>A, XM_006719508.5:c.3331G>A, XM_006719508.4:c.3331G>A, XM_006719508.3:c.3331G>A, XM_006719508.2:c.3331G>A, XM_006719508.1:c.3331G>A, XM_006719510.5:c.3256G>A, XM_006719510.4:c.3256G>A, XM_006719510.3:c.3256G>A, XM_006719510.2:c.3256G>A, XM_006719510.1:c.3256G>A, XM_006719505.5:c.3331G>A, XM_006719505.4:c.3331G>A, XM_006719505.3:c.3331G>A, XM_006719505.2:c.3331G>A, XM_006719505.1:c.3331G>A, XM_006719504.5:c.3328G>A, XM_006719504.4:c.3328G>A, XM_006719504.3:c.3328G>A, XM_006719504.2:c.3328G>A, XM_006719504.1:c.3328G>A, XM_006719512.5:c.3076G>A, XM_006719512.4:c.3076G>A, XM_006719512.3:c.3076G>A, XM_006719512.2:c.3076G>A, XM_006719512.1:c.3076G>A, XM_006719513.5:c.3076G>A, XM_006719513.4:c.3076G>A, XM_006719513.3:c.3076G>A, XM_006719513.2:c.3076G>A, XM_006719513.1:c.3076G>A, XM_006719507.5:c.3331G>A, XM_006719507.4:c.3331G>A, XM_006719507.3:c.3331G>A, XM_006719507.2:c.3331G>A, XM_006719507.1:c.3331G>A, XM_006719514.5:c.3064G>A, XM_006719514.4:c.3064G>A, XM_006719514.3:c.3064G>A, XM_006719514.2:c.3064G>A, XM_006719514.1:c.3064G>A, XM_011538571.4:c.3229G>A, XM_011538571.3:c.3229G>A, XM_011538571.2:c.3229G>A, XM_011538571.1:c.3229G>A, XM_017019652.3:c.3319G>A, XM_017019652.2:c.3319G>A, XM_017019652.1:c.3319G>A, XM_024449061.2:c.2227G>A, XM_024449061.1:c.2227G>A, XM_024449060.2:c.2071G>A, XM_024449060.1:c.2071G>A, XM_024449069.2:c.838G>A, XM_024449069.1:c.838G>A, XM_024449065.2:c.916G>A, XM_024449065.1:c.916G>A, XM_047429165.1:c.2071G>A, XM_047429166.1:c.2071G>A, XM_047429167.1:c.2071G>A, XM_047429168.1:c.904G>A, XM_047429169.1:c.838G>A, XM_047429170.1:c.346G>A, NP_690001.3:p.Ala1086Thr, NP_858056.2:p.Ala336Thr, NP_064525.1:p.Ala252Thr, NP_001339115.1:p.Ala1111Thr, NP_001339129.1:p.Ala337Thr, NP_001339127.1:p.Ala337Thr, NP_001339134.1:p.Ala337Thr, NP_001339124.1:p.Ala336Thr, NP_001190997.1:p.Ala312Thr, NP_001339133.1:p.Ala312Thr, NP_001339131.1:p.Ala312Thr, NP_001190998.1:p.Ala276Thr, NP_001339135.1:p.Ala276Thr, NP_001190999.1:p.Ala252Thr, NP_001339128.1:p.Ala252Thr, NP_001339132.1:p.Ala241Thr, NP_001339122.1:p.Ala255Thr, NP_001339121.1:p.Ala255Thr, NP_001339123.1:p.Ala216Thr, NP_001339130.1:p.Ala216Thr, NP_001339120.1:p.Ala195Thr, NP_001190996.1:p.Ala221Thr, NP_001190995.1:p.Ala184Thr, NP_001339137.1:p.Ala116Thr, NP_001339148.1:p.Ala117Thr, NP_001191008.1:p.Ala117Thr, NP_001190994.1:p.Ala116Thr, NP_001339151.1:p.Ala116Thr, NP_001339136.1:p.Ala92Thr, NP_001339138.1:p.Ala92Thr, NP_001191009.1:p.Ala92Thr, NP_001339150.1:p.Ala92Thr, NP_001339139.1:p.Ala67Thr, NP_001339154.1:p.Ala67Thr, NP_001339147.1:p.Ala17Thr, NP_001339141.1:p.Ala17Thr, NP_001339149.1:p.Ala17Thr, NP_001339146.1:p.Ala17Thr, NP_001339140.1:p.Ala17Thr, NP_001339153.1:p.Ala17Thr, NP_001339125.1:p.Ala336Thr, NP_001339126.1:p.Ala312Thr, NP_001339152.1:p.Ala117Thr, NP_001191010.1:p.Ala92Thr, NP_001339143.1:p.Ala17Thr, NP_001339142.1:p.Ala17Thr, NP_001339145.1:p.Ala17Thr, NP_001339117.1:p.Ala1110Thr, NP_001339116.1:p.Ala1086Thr, NP_001339114.1:p.Ala1086Thr, NP_001339119.1:p.Ala306Thr, NP_001339118.1:p.Ala305Thr, XP_005269086.1:p.Ala1082Thr, XP_006719571.1:p.Ala1111Thr, XP_006719573.1:p.Ala1086Thr, XP_006719568.1:p.Ala1111Thr, XP_006719567.1:p.Ala1110Thr, XP_006719575.1:p.Ala1026Thr, XP_006719576.1:p.Ala1026Thr, XP_006719570.1:p.Ala1111Thr, XP_006719577.1:p.Ala1022Thr, XP_011536873.1:p.Ala1077Thr, XP_016875141.1:p.Ala1107Thr, XP_024304829.1:p.Ala743Thr, XP_024304828.1:p.Ala691Thr, XP_024304837.1:p.Ala280Thr, XP_024304833.1:p.Ala306Thr, XP_047285121.1:p.Ala691Thr, XP_047285122.1:p.Ala691Thr, XP_047285123.1:p.Ala691Thr, XP_047285124.1:p.Ala302Thr, XP_047285125.1:p.Ala280Thr, XP_047285126.1:p.Ala116Thr

            6.

            rs1463965767 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              12:98751431 (GRCh38)
              12:99145209 (GRCh37)
              Canonical SPDI:
              NC_000012.12:98751430:G:C
              Gene:
              ANKS1B (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000012.12:g.98751431G>C, NC_000012.11:g.99145209G>C, NG_029860.2:g.1238224C>G, NM_152788.4:c.3596C>G, NM_181670.4:c.1346C>G, NM_181670.3:c.1346C>G, NM_020140.4:c.1094C>G, NM_020140.3:c.1094C>G, NM_001352186.2:c.3671C>G, NM_001352186.1:c.3671C>G, NM_001352200.2:c.1349C>G, NM_001352200.1:c.1349C>G, NM_001352198.2:c.1349C>G, NM_001352198.1:c.1349C>G, NM_001352205.2:c.1349C>G, NM_001352205.1:c.1349C>G, NM_001352195.2:c.1346C>G, NM_001352195.1:c.1346C>G, NM_001204068.2:c.1274C>G, NM_001204068.1:c.1274C>G, NM_001352204.2:c.1274C>G, NM_001352204.1:c.1274C>G, NM_001352202.2:c.1274C>G, NM_001352202.1:c.1274C>G, NM_001204069.2:c.1166C>G, NM_001204069.1:c.1166C>G, NM_001352206.2:c.1166C>G, NM_001352206.1:c.1166C>G, NM_001204070.2:c.1094C>G, NM_001204070.1:c.1094C>G, NM_001352199.2:c.1094C>G, NM_001352199.1:c.1094C>G, NM_001352203.2:c.1061C>G, NM_001352203.1:c.1061C>G, NM_001352193.2:c.1103C>G, NM_001352193.1:c.1103C>G, NM_001352192.2:c.1103C>G, NM_001352192.1:c.1103C>G, NM_001352194.2:c.986C>G, NM_001352194.1:c.986C>G, NM_001352201.2:c.986C>G, NM_001352201.1:c.986C>G, NM_001352191.2:c.923C>G, NM_001352191.1:c.923C>G, NM_001204067.2:c.1001C>G, NM_001204067.1:c.1001C>G, NM_001204066.2:c.890C>G, NM_001204066.1:c.890C>G, NM_001352208.2:c.686C>G, NM_001352208.1:c.686C>G, NM_001352219.2:c.689C>G, NM_001352219.1:c.689C>G, NM_001204079.2:c.689C>G, NM_001204079.1:c.689C>G, NM_001204065.2:c.686C>G, NM_001204065.1:c.686C>G, NM_001352222.2:c.686C>G, NM_001352222.1:c.686C>G, NM_001352207.2:c.614C>G, NM_001352207.1:c.614C>G, NM_001352209.2:c.614C>G, NM_001352209.1:c.614C>G, NM_001204080.2:c.614C>G, NM_001204080.1:c.614C>G, NM_001352221.2:c.614C>G, NM_001352221.1:c.614C>G, NM_001352210.2:c.539C>G, NM_001352210.1:c.539C>G, NM_001352225.2:c.539C>G, NM_001352225.1:c.539C>G, NM_001352218.2:c.389C>G, NM_001352218.1:c.389C>G, NM_001352212.2:c.389C>G, NM_001352212.1:c.389C>G, NM_001352220.2:c.389C>G, NM_001352220.1:c.389C>G, NM_001352217.2:c.389C>G, NM_001352217.1:c.389C>G, NM_001352211.2:c.389C>G, NM_001352211.1:c.389C>G, NM_001352224.2:c.389C>G, NM_001352224.1:c.389C>G, NM_001352196.2:c.1346C>G, NM_001352196.1:c.1346C>G, NM_001352197.2:c.1274C>G, NM_001352197.1:c.1274C>G, NM_001352223.2:c.689C>G, NM_001352223.1:c.689C>G, NM_001204081.2:c.614C>G, NM_001204081.1:c.614C>G, NM_001352214.2:c.389C>G, NM_001352214.1:c.389C>G, NM_001352213.2:c.389C>G, NM_001352213.1:c.389C>G, NM_001352216.2:c.389C>G, NM_001352216.1:c.389C>G, NM_001352188.1:c.3668C>G, NM_001352187.1:c.3596C>G, NM_001352185.1:c.3596C>G, NM_001352190.1:c.1256C>G, NM_001352189.1:c.1253C>G, XM_005269029.6:c.3584C>G, XM_005269029.5:c.3584C>G, XM_005269029.4:c.3584C>G, XM_005269029.3:c.3584C>G, XM_005269029.2:c.3584C>G, XM_005269029.1:c.3584C>G, XM_006719508.5:c.3671C>G, XM_006719508.4:c.3671C>G, XM_006719508.3:c.3671C>G, XM_006719508.2:c.3671C>G, XM_006719508.1:c.3671C>G, XM_006719510.5:c.3596C>G, XM_006719510.4:c.3596C>G, XM_006719510.3:c.3596C>G, XM_006719510.2:c.3596C>G, XM_006719510.1:c.3596C>G, XM_006719505.5:c.3671C>G, XM_006719505.4:c.3671C>G, XM_006719505.3:c.3671C>G, XM_006719505.2:c.3671C>G, XM_006719505.1:c.3671C>G, XM_006719504.5:c.3668C>G, XM_006719504.4:c.3668C>G, XM_006719504.3:c.3668C>G, XM_006719504.2:c.3668C>G, XM_006719504.1:c.3668C>G, XM_006719512.5:c.3416C>G, XM_006719512.4:c.3416C>G, XM_006719512.3:c.3416C>G, XM_006719512.2:c.3416C>G, XM_006719512.1:c.3416C>G, XM_006719513.5:c.3416C>G, XM_006719513.4:c.3416C>G, XM_006719513.3:c.3416C>G, XM_006719513.2:c.3416C>G, XM_006719513.1:c.3416C>G, XM_006719507.5:c.3671C>G, XM_006719507.4:c.3671C>G, XM_006719507.3:c.3671C>G, XM_006719507.2:c.3671C>G, XM_006719507.1:c.3671C>G, XM_006719514.5:c.3404C>G, XM_006719514.4:c.3404C>G, XM_006719514.3:c.3404C>G, XM_006719514.2:c.3404C>G, XM_006719514.1:c.3404C>G, XM_011538571.4:c.3569C>G, XM_011538571.3:c.3569C>G, XM_011538571.2:c.3569C>G, XM_011538571.1:c.3569C>G, XM_017019652.3:c.3659C>G, XM_017019652.2:c.3659C>G, XM_017019652.1:c.3659C>G, XM_024449061.2:c.2567C>G, XM_024449061.1:c.2567C>G, XM_024449060.2:c.2411C>G, XM_024449060.1:c.2411C>G, XM_024449069.2:c.1178C>G, XM_024449069.1:c.1178C>G, XM_024449065.2:c.1256C>G, XM_024449065.1:c.1256C>G, XM_047429165.1:c.2411C>G, XM_047429166.1:c.2411C>G, XM_047429167.1:c.2411C>G, XM_047429168.1:c.1244C>G, XM_047429169.1:c.1178C>G, XM_047429170.1:c.686C>G, NP_690001.3:p.Ser1199Cys, NP_858056.2:p.Ser449Cys, NP_064525.1:p.Ser365Cys, NP_001339115.1:p.Ser1224Cys, NP_001339129.1:p.Ser450Cys, NP_001339127.1:p.Ser450Cys, NP_001339134.1:p.Ser450Cys, NP_001339124.1:p.Ser449Cys, NP_001190997.1:p.Ser425Cys, NP_001339133.1:p.Ser425Cys, NP_001339131.1:p.Ser425Cys, NP_001190998.1:p.Ser389Cys, NP_001339135.1:p.Ser389Cys, NP_001190999.1:p.Ser365Cys, NP_001339128.1:p.Ser365Cys, NP_001339132.1:p.Ser354Cys, NP_001339122.1:p.Ser368Cys, NP_001339121.1:p.Ser368Cys, NP_001339123.1:p.Ser329Cys, NP_001339130.1:p.Ser329Cys, NP_001339120.1:p.Ser308Cys, NP_001190996.1:p.Ser334Cys, NP_001190995.1:p.Ser297Cys, NP_001339137.1:p.Ser229Cys, NP_001339148.1:p.Ser230Cys, NP_001191008.1:p.Ser230Cys, NP_001190994.1:p.Ser229Cys, NP_001339151.1:p.Ser229Cys, NP_001339136.1:p.Ser205Cys, NP_001339138.1:p.Ser205Cys, NP_001191009.1:p.Ser205Cys, NP_001339150.1:p.Ser205Cys, NP_001339139.1:p.Ser180Cys, NP_001339154.1:p.Ser180Cys, NP_001339147.1:p.Ser130Cys, NP_001339141.1:p.Ser130Cys, NP_001339149.1:p.Ser130Cys, NP_001339146.1:p.Ser130Cys, NP_001339140.1:p.Ser130Cys, NP_001339153.1:p.Ser130Cys, NP_001339125.1:p.Ser449Cys, NP_001339126.1:p.Ser425Cys, NP_001339152.1:p.Ser230Cys, NP_001191010.1:p.Ser205Cys, NP_001339143.1:p.Ser130Cys, NP_001339142.1:p.Ser130Cys, NP_001339145.1:p.Ser130Cys, NP_001339117.1:p.Ser1223Cys, NP_001339116.1:p.Ser1199Cys, NP_001339114.1:p.Ser1199Cys, NP_001339119.1:p.Ser419Cys, NP_001339118.1:p.Ser418Cys, XP_005269086.1:p.Ser1195Cys, XP_006719571.1:p.Ser1224Cys, XP_006719573.1:p.Ser1199Cys, XP_006719568.1:p.Ser1224Cys, XP_006719567.1:p.Ser1223Cys, XP_006719575.1:p.Ser1139Cys, XP_006719576.1:p.Ser1139Cys, XP_006719570.1:p.Ser1224Cys, XP_006719577.1:p.Ser1135Cys, XP_011536873.1:p.Ser1190Cys, XP_016875141.1:p.Ser1220Cys, XP_024304829.1:p.Ser856Cys, XP_024304828.1:p.Ser804Cys, XP_024304837.1:p.Ser393Cys, XP_024304833.1:p.Ser419Cys, XP_047285121.1:p.Ser804Cys, XP_047285122.1:p.Ser804Cys, XP_047285123.1:p.Ser804Cys, XP_047285124.1:p.Ser415Cys, XP_047285125.1:p.Ser393Cys, XP_047285126.1:p.Ser229Cys

              7.

              rs1457907747 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                12:98773128 (GRCh38)
                12:99166906 (GRCh37)
                Canonical SPDI:
                NC_000012.12:98773127:G:A,NC_000012.12:98773127:G:C
                Gene:
                ANKS1B (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                A=0.000008/2 (TOPMED)
                HGVS:
                NC_000012.12:g.98773128G>A, NC_000012.12:g.98773128G>C, NC_000012.11:g.99166906G>A, NC_000012.11:g.99166906G>C, NG_029860.2:g.1216527C>T, NG_029860.2:g.1216527C>G, NM_152788.4:c.3418C>T, NM_152788.4:c.3418C>G, NM_181670.4:c.1168C>T, NM_181670.4:c.1168C>G, NM_181670.3:c.1168C>T, NM_181670.3:c.1168C>G, NM_020140.4:c.916C>T, NM_020140.4:c.916C>G, NM_020140.3:c.916C>T, NM_020140.3:c.916C>G, NM_001352186.2:c.3493C>T, NM_001352186.2:c.3493C>G, NM_001352186.1:c.3493C>T, NM_001352186.1:c.3493C>G, NM_001352200.2:c.1171C>T, NM_001352200.2:c.1171C>G, NM_001352200.1:c.1171C>T, NM_001352200.1:c.1171C>G, NM_001352198.2:c.1171C>T, NM_001352198.2:c.1171C>G, NM_001352198.1:c.1171C>T, NM_001352198.1:c.1171C>G, NM_001352205.2:c.1171C>T, NM_001352205.2:c.1171C>G, NM_001352205.1:c.1171C>T, NM_001352205.1:c.1171C>G, NM_001352195.2:c.1168C>T, NM_001352195.2:c.1168C>G, NM_001352195.1:c.1168C>T, NM_001352195.1:c.1168C>G, NM_001204068.2:c.1096C>T, NM_001204068.2:c.1096C>G, NM_001204068.1:c.1096C>T, NM_001204068.1:c.1096C>G, NM_001352204.2:c.1096C>T, NM_001352204.2:c.1096C>G, NM_001352204.1:c.1096C>T, NM_001352204.1:c.1096C>G, NM_001352202.2:c.1096C>T, NM_001352202.2:c.1096C>G, NM_001352202.1:c.1096C>T, NM_001352202.1:c.1096C>G, NM_001204069.2:c.988C>T, NM_001204069.2:c.988C>G, NM_001204069.1:c.988C>T, NM_001204069.1:c.988C>G, NM_001352206.2:c.988C>T, NM_001352206.2:c.988C>G, NM_001352206.1:c.988C>T, NM_001352206.1:c.988C>G, NM_001204070.2:c.916C>T, NM_001204070.2:c.916C>G, NM_001204070.1:c.916C>T, NM_001204070.1:c.916C>G, NM_001352199.2:c.916C>T, NM_001352199.2:c.916C>G, NM_001352199.1:c.916C>T, NM_001352199.1:c.916C>G, NM_001352203.2:c.883C>T, NM_001352203.2:c.883C>G, NM_001352203.1:c.883C>T, NM_001352203.1:c.883C>G, NM_001352193.2:c.925C>T, NM_001352193.2:c.925C>G, NM_001352193.1:c.925C>T, NM_001352193.1:c.925C>G, NM_001352192.2:c.925C>T, NM_001352192.2:c.925C>G, NM_001352192.1:c.925C>T, NM_001352192.1:c.925C>G, NM_001352194.2:c.808C>T, NM_001352194.2:c.808C>G, NM_001352194.1:c.808C>T, NM_001352194.1:c.808C>G, NM_001352201.2:c.808C>T, NM_001352201.2:c.808C>G, NM_001352201.1:c.808C>T, NM_001352201.1:c.808C>G, NM_001352191.2:c.745C>T, NM_001352191.2:c.745C>G, NM_001352191.1:c.745C>T, NM_001352191.1:c.745C>G, NM_001204067.2:c.823C>T, NM_001204067.2:c.823C>G, NM_001204067.1:c.823C>T, NM_001204067.1:c.823C>G, NM_001204066.2:c.712C>T, NM_001204066.2:c.712C>G, NM_001204066.1:c.712C>T, NM_001204066.1:c.712C>G, NM_001352208.2:c.508C>T, NM_001352208.2:c.508C>G, NM_001352208.1:c.508C>T, NM_001352208.1:c.508C>G, NM_001352219.2:c.511C>T, NM_001352219.2:c.511C>G, NM_001352219.1:c.511C>T, NM_001352219.1:c.511C>G, NM_001204079.2:c.511C>T, NM_001204079.2:c.511C>G, NM_001204079.1:c.511C>T, NM_001204079.1:c.511C>G, NM_001204065.2:c.508C>T, NM_001204065.2:c.508C>G, NM_001204065.1:c.508C>T, NM_001204065.1:c.508C>G, NM_001352222.2:c.508C>T, NM_001352222.2:c.508C>G, NM_001352222.1:c.508C>T, NM_001352222.1:c.508C>G, NM_001352207.2:c.436C>T, NM_001352207.2:c.436C>G, NM_001352207.1:c.436C>T, NM_001352207.1:c.436C>G, NM_001352209.2:c.436C>T, NM_001352209.2:c.436C>G, NM_001352209.1:c.436C>T, NM_001352209.1:c.436C>G, NM_001204080.2:c.436C>T, NM_001204080.2:c.436C>G, NM_001204080.1:c.436C>T, NM_001204080.1:c.436C>G, NM_001352221.2:c.436C>T, NM_001352221.2:c.436C>G, NM_001352221.1:c.436C>T, NM_001352221.1:c.436C>G, NM_001352210.2:c.361C>T, NM_001352210.2:c.361C>G, NM_001352210.1:c.361C>T, NM_001352210.1:c.361C>G, NM_001352225.2:c.361C>T, NM_001352225.2:c.361C>G, NM_001352225.1:c.361C>T, NM_001352225.1:c.361C>G, NM_001352218.2:c.211C>T, NM_001352218.2:c.211C>G, NM_001352218.1:c.211C>T, NM_001352218.1:c.211C>G, NM_001352212.2:c.211C>T, NM_001352212.2:c.211C>G, NM_001352212.1:c.211C>T, NM_001352212.1:c.211C>G, NM_001352220.2:c.211C>T, NM_001352220.2:c.211C>G, NM_001352220.1:c.211C>T, NM_001352220.1:c.211C>G, NM_001352217.2:c.211C>T, NM_001352217.2:c.211C>G, NM_001352217.1:c.211C>T, NM_001352217.1:c.211C>G, NM_001352211.2:c.211C>T, NM_001352211.2:c.211C>G, NM_001352211.1:c.211C>T, NM_001352211.1:c.211C>G, NM_001352224.2:c.211C>T, NM_001352224.2:c.211C>G, NM_001352224.1:c.211C>T, NM_001352224.1:c.211C>G, NM_001352196.2:c.1168C>T, NM_001352196.2:c.1168C>G, NM_001352196.1:c.1168C>T, NM_001352196.1:c.1168C>G, NM_001352197.2:c.1096C>T, NM_001352197.2:c.1096C>G, NM_001352197.1:c.1096C>T, NM_001352197.1:c.1096C>G, NM_001352223.2:c.511C>T, NM_001352223.2:c.511C>G, NM_001352223.1:c.511C>T, NM_001352223.1:c.511C>G, NM_001204081.2:c.436C>T, NM_001204081.2:c.436C>G, NM_001204081.1:c.436C>T, NM_001204081.1:c.436C>G, NM_001352214.2:c.211C>T, NM_001352214.2:c.211C>G, NM_001352214.1:c.211C>T, NM_001352214.1:c.211C>G, NM_001352213.2:c.211C>T, NM_001352213.2:c.211C>G, NM_001352213.1:c.211C>T, NM_001352213.1:c.211C>G, NM_001352216.2:c.211C>T, NM_001352216.2:c.211C>G, NM_001352216.1:c.211C>T, NM_001352216.1:c.211C>G, NM_001352188.1:c.3490C>T, NM_001352188.1:c.3490C>G, NM_001352187.1:c.3418C>T, NM_001352187.1:c.3418C>G, NM_001352185.1:c.3418C>T, NM_001352185.1:c.3418C>G, NM_001352190.1:c.1078C>T, NM_001352190.1:c.1078C>G, NM_001352189.1:c.1075C>T, NM_001352189.1:c.1075C>G, XM_005269029.6:c.3406C>T, XM_005269029.6:c.3406C>G, XM_005269029.5:c.3406C>T, XM_005269029.5:c.3406C>G, XM_005269029.4:c.3406C>T, XM_005269029.4:c.3406C>G, XM_005269029.3:c.3406C>T, XM_005269029.3:c.3406C>G, XM_005269029.2:c.3406C>T, XM_005269029.2:c.3406C>G, XM_005269029.1:c.3406C>T, XM_005269029.1:c.3406C>G, XM_006719508.5:c.3493C>T, XM_006719508.5:c.3493C>G, XM_006719508.4:c.3493C>T, XM_006719508.4:c.3493C>G, XM_006719508.3:c.3493C>T, XM_006719508.3:c.3493C>G, XM_006719508.2:c.3493C>T, XM_006719508.2:c.3493C>G, XM_006719508.1:c.3493C>T, XM_006719508.1:c.3493C>G, XM_006719510.5:c.3418C>T, XM_006719510.5:c.3418C>G, XM_006719510.4:c.3418C>T, XM_006719510.4:c.3418C>G, XM_006719510.3:c.3418C>T, XM_006719510.3:c.3418C>G, XM_006719510.2:c.3418C>T, XM_006719510.2:c.3418C>G, XM_006719510.1:c.3418C>T, XM_006719510.1:c.3418C>G, XM_006719505.5:c.3493C>T, XM_006719505.5:c.3493C>G, XM_006719505.4:c.3493C>T, XM_006719505.4:c.3493C>G, XM_006719505.3:c.3493C>T, XM_006719505.3:c.3493C>G, XM_006719505.2:c.3493C>T, XM_006719505.2:c.3493C>G, XM_006719505.1:c.3493C>T, XM_006719505.1:c.3493C>G, XM_006719504.5:c.3490C>T, XM_006719504.5:c.3490C>G, XM_006719504.4:c.3490C>T, XM_006719504.4:c.3490C>G, XM_006719504.3:c.3490C>T, XM_006719504.3:c.3490C>G, XM_006719504.2:c.3490C>T, XM_006719504.2:c.3490C>G, XM_006719504.1:c.3490C>T, XM_006719504.1:c.3490C>G, XM_006719512.5:c.3238C>T, XM_006719512.5:c.3238C>G, XM_006719512.4:c.3238C>T, XM_006719512.4:c.3238C>G, XM_006719512.3:c.3238C>T, XM_006719512.3:c.3238C>G, XM_006719512.2:c.3238C>T, XM_006719512.2:c.3238C>G, XM_006719512.1:c.3238C>T, XM_006719512.1:c.3238C>G, XM_006719513.5:c.3238C>T, XM_006719513.5:c.3238C>G, XM_006719513.4:c.3238C>T, XM_006719513.4:c.3238C>G, XM_006719513.3:c.3238C>T, XM_006719513.3:c.3238C>G, XM_006719513.2:c.3238C>T, XM_006719513.2:c.3238C>G, XM_006719513.1:c.3238C>T, XM_006719513.1:c.3238C>G, XM_006719507.5:c.3493C>T, XM_006719507.5:c.3493C>G, XM_006719507.4:c.3493C>T, XM_006719507.4:c.3493C>G, XM_006719507.3:c.3493C>T, XM_006719507.3:c.3493C>G, XM_006719507.2:c.3493C>T, XM_006719507.2:c.3493C>G, XM_006719507.1:c.3493C>T, XM_006719507.1:c.3493C>G, XM_006719514.5:c.3226C>T, XM_006719514.5:c.3226C>G, XM_006719514.4:c.3226C>T, XM_006719514.4:c.3226C>G, XM_006719514.3:c.3226C>T, XM_006719514.3:c.3226C>G, XM_006719514.2:c.3226C>T, XM_006719514.2:c.3226C>G, XM_006719514.1:c.3226C>T, XM_006719514.1:c.3226C>G, XM_011538571.4:c.3391C>T, XM_011538571.4:c.3391C>G, XM_011538571.3:c.3391C>T, XM_011538571.3:c.3391C>G, XM_011538571.2:c.3391C>T, XM_011538571.2:c.3391C>G, XM_011538571.1:c.3391C>T, XM_011538571.1:c.3391C>G, XM_017019652.3:c.3481C>T, XM_017019652.3:c.3481C>G, XM_017019652.2:c.3481C>T, XM_017019652.2:c.3481C>G, XM_017019652.1:c.3481C>T, XM_017019652.1:c.3481C>G, XM_024449061.2:c.2389C>T, XM_024449061.2:c.2389C>G, XM_024449061.1:c.2389C>T, XM_024449061.1:c.2389C>G, XM_024449060.2:c.2233C>T, XM_024449060.2:c.2233C>G, XM_024449060.1:c.2233C>T, XM_024449060.1:c.2233C>G, XM_024449069.2:c.1000C>T, XM_024449069.2:c.1000C>G, XM_024449069.1:c.1000C>T, XM_024449069.1:c.1000C>G, XM_024449065.2:c.1078C>T, XM_024449065.2:c.1078C>G, XM_024449065.1:c.1078C>T, XM_024449065.1:c.1078C>G, XM_047429165.1:c.2233C>T, XM_047429165.1:c.2233C>G, XM_047429166.1:c.2233C>T, XM_047429166.1:c.2233C>G, XM_047429167.1:c.2233C>T, XM_047429167.1:c.2233C>G, XM_047429168.1:c.1066C>T, XM_047429168.1:c.1066C>G, XM_047429169.1:c.1000C>T, XM_047429169.1:c.1000C>G, XM_047429170.1:c.508C>T, XM_047429170.1:c.508C>G, NP_690001.3:p.Pro1140Ser, NP_690001.3:p.Pro1140Ala, NP_858056.2:p.Pro390Ser, NP_858056.2:p.Pro390Ala, NP_064525.1:p.Pro306Ser, NP_064525.1:p.Pro306Ala, NP_001339115.1:p.Pro1165Ser, NP_001339115.1:p.Pro1165Ala, NP_001339129.1:p.Pro391Ser, NP_001339129.1:p.Pro391Ala, NP_001339127.1:p.Pro391Ser, NP_001339127.1:p.Pro391Ala, NP_001339134.1:p.Pro391Ser, NP_001339134.1:p.Pro391Ala, NP_001339124.1:p.Pro390Ser, NP_001339124.1:p.Pro390Ala, NP_001190997.1:p.Pro366Ser, NP_001190997.1:p.Pro366Ala, NP_001339133.1:p.Pro366Ser, NP_001339133.1:p.Pro366Ala, NP_001339131.1:p.Pro366Ser, NP_001339131.1:p.Pro366Ala, NP_001190998.1:p.Pro330Ser, NP_001190998.1:p.Pro330Ala, NP_001339135.1:p.Pro330Ser, NP_001339135.1:p.Pro330Ala, NP_001190999.1:p.Pro306Ser, NP_001190999.1:p.Pro306Ala, NP_001339128.1:p.Pro306Ser, NP_001339128.1:p.Pro306Ala, NP_001339132.1:p.Pro295Ser, NP_001339132.1:p.Pro295Ala, NP_001339122.1:p.Pro309Ser, NP_001339122.1:p.Pro309Ala, NP_001339121.1:p.Pro309Ser, NP_001339121.1:p.Pro309Ala, NP_001339123.1:p.Pro270Ser, NP_001339123.1:p.Pro270Ala, NP_001339130.1:p.Pro270Ser, NP_001339130.1:p.Pro270Ala, NP_001339120.1:p.Pro249Ser, NP_001339120.1:p.Pro249Ala, NP_001190996.1:p.Pro275Ser, NP_001190996.1:p.Pro275Ala, NP_001190995.1:p.Pro238Ser, NP_001190995.1:p.Pro238Ala, NP_001339137.1:p.Pro170Ser, NP_001339137.1:p.Pro170Ala, NP_001339148.1:p.Pro171Ser, NP_001339148.1:p.Pro171Ala, NP_001191008.1:p.Pro171Ser, NP_001191008.1:p.Pro171Ala, NP_001190994.1:p.Pro170Ser, NP_001190994.1:p.Pro170Ala, NP_001339151.1:p.Pro170Ser, NP_001339151.1:p.Pro170Ala, NP_001339136.1:p.Pro146Ser, NP_001339136.1:p.Pro146Ala, NP_001339138.1:p.Pro146Ser, NP_001339138.1:p.Pro146Ala, NP_001191009.1:p.Pro146Ser, NP_001191009.1:p.Pro146Ala, NP_001339150.1:p.Pro146Ser, NP_001339150.1:p.Pro146Ala, NP_001339139.1:p.Pro121Ser, NP_001339139.1:p.Pro121Ala, NP_001339154.1:p.Pro121Ser, NP_001339154.1:p.Pro121Ala, NP_001339147.1:p.Pro71Ser, NP_001339147.1:p.Pro71Ala, NP_001339141.1:p.Pro71Ser, NP_001339141.1:p.Pro71Ala, NP_001339149.1:p.Pro71Ser, NP_001339149.1:p.Pro71Ala, NP_001339146.1:p.Pro71Ser, NP_001339146.1:p.Pro71Ala, NP_001339140.1:p.Pro71Ser, NP_001339140.1:p.Pro71Ala, NP_001339153.1:p.Pro71Ser, NP_001339153.1:p.Pro71Ala, NP_001339125.1:p.Pro390Ser, NP_001339125.1:p.Pro390Ala, NP_001339126.1:p.Pro366Ser, NP_001339126.1:p.Pro366Ala, NP_001339152.1:p.Pro171Ser, NP_001339152.1:p.Pro171Ala, NP_001191010.1:p.Pro146Ser, NP_001191010.1:p.Pro146Ala, NP_001339143.1:p.Pro71Ser, NP_001339143.1:p.Pro71Ala, NP_001339142.1:p.Pro71Ser, NP_001339142.1:p.Pro71Ala, NP_001339145.1:p.Pro71Ser, NP_001339145.1:p.Pro71Ala, NP_001339117.1:p.Pro1164Ser, NP_001339117.1:p.Pro1164Ala, NP_001339116.1:p.Pro1140Ser, NP_001339116.1:p.Pro1140Ala, NP_001339114.1:p.Pro1140Ser, NP_001339114.1:p.Pro1140Ala, NP_001339119.1:p.Pro360Ser, NP_001339119.1:p.Pro360Ala, NP_001339118.1:p.Pro359Ser, NP_001339118.1:p.Pro359Ala, XP_005269086.1:p.Pro1136Ser, XP_005269086.1:p.Pro1136Ala, XP_006719571.1:p.Pro1165Ser, XP_006719571.1:p.Pro1165Ala, XP_006719573.1:p.Pro1140Ser, XP_006719573.1:p.Pro1140Ala, XP_006719568.1:p.Pro1165Ser, XP_006719568.1:p.Pro1165Ala, XP_006719567.1:p.Pro1164Ser, XP_006719567.1:p.Pro1164Ala, XP_006719575.1:p.Pro1080Ser, XP_006719575.1:p.Pro1080Ala, XP_006719576.1:p.Pro1080Ser, XP_006719576.1:p.Pro1080Ala, XP_006719570.1:p.Pro1165Ser, XP_006719570.1:p.Pro1165Ala, XP_006719577.1:p.Pro1076Ser, XP_006719577.1:p.Pro1076Ala, XP_011536873.1:p.Pro1131Ser, XP_011536873.1:p.Pro1131Ala, XP_016875141.1:p.Pro1161Ser, XP_016875141.1:p.Pro1161Ala, XP_024304829.1:p.Pro797Ser, XP_024304829.1:p.Pro797Ala, XP_024304828.1:p.Pro745Ser, XP_024304828.1:p.Pro745Ala, XP_024304837.1:p.Pro334Ser, XP_024304837.1:p.Pro334Ala, XP_024304833.1:p.Pro360Ser, XP_024304833.1:p.Pro360Ala, XP_047285121.1:p.Pro745Ser, XP_047285121.1:p.Pro745Ala, XP_047285122.1:p.Pro745Ser, XP_047285122.1:p.Pro745Ala, XP_047285123.1:p.Pro745Ser, XP_047285123.1:p.Pro745Ala, XP_047285124.1:p.Pro356Ser, XP_047285124.1:p.Pro356Ala, XP_047285125.1:p.Pro334Ser, XP_047285125.1:p.Pro334Ala, XP_047285126.1:p.Pro170Ser, XP_047285126.1:p.Pro170Ala

                8.

                rs1456914187 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->C [Show Flanks]
                  Chromosome:
                  12:98798969 (GRCh38)
                  12:99192748 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:98798969:CCCCC:CCCCCC
                  Gene:
                  ANKS1B (Varview)
                  Functional Consequence:
                  frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000012.12:g.98798974dup, NC_000012.11:g.99192752dup, NG_029860.2:g.1190685dup, NM_152788.4:c.3231dup, NM_181670.4:c.981dup, NM_181670.3:c.981dup, NM_020140.4:c.729dup, NM_020140.3:c.729dup, NM_001352186.2:c.3306dup, NM_001352186.1:c.3306dup, NM_001352200.2:c.984dup, NM_001352200.1:c.984dup, NM_001352198.2:c.984dup, NM_001352198.1:c.984dup, NM_001352205.2:c.984dup, NM_001352205.1:c.984dup, NM_001352195.2:c.981dup, NM_001352195.1:c.981dup, NM_001204068.2:c.909dup, NM_001204068.1:c.909dup, NM_001352204.2:c.909dup, NM_001352204.1:c.909dup, NM_001352202.2:c.909dup, NM_001352202.1:c.909dup, NM_001204069.2:c.801dup, NM_001204069.1:c.801dup, NM_001352206.2:c.801dup, NM_001352206.1:c.801dup, NM_001204070.2:c.729dup, NM_001204070.1:c.729dup, NM_001352199.2:c.729dup, NM_001352199.1:c.729dup, NM_001352203.2:c.696dup, NM_001352203.1:c.696dup, NM_001352193.2:c.738dup, NM_001352193.1:c.738dup, NM_001352192.2:c.738dup, NM_001352192.1:c.738dup, NM_001352194.2:c.621dup, NM_001352194.1:c.621dup, NM_001352201.2:c.621dup, NM_001352201.1:c.621dup, NM_001352191.2:c.558dup, NM_001352191.1:c.558dup, NM_001204067.2:c.636dup, NM_001204067.1:c.636dup, NM_001204066.2:c.525dup, NM_001204066.1:c.525dup, NM_001352208.2:c.321dup, NM_001352208.1:c.321dup, NM_001352219.2:c.324dup, NM_001352219.1:c.324dup, NM_001204079.2:c.324dup, NM_001204079.1:c.324dup, NM_001204065.2:c.321dup, NM_001204065.1:c.321dup, NM_001352222.2:c.321dup, NM_001352222.1:c.321dup, NM_001352207.2:c.249dup, NM_001352207.1:c.249dup, NM_001352209.2:c.249dup, NM_001352209.1:c.249dup, NM_001204080.2:c.249dup, NM_001204080.1:c.249dup, NM_001352221.2:c.249dup, NM_001352221.1:c.249dup, NM_001352210.2:c.174dup, NM_001352210.1:c.174dup, NM_001352225.2:c.174dup, NM_001352225.1:c.174dup, NM_001352218.2:c.24dup, NM_001352218.1:c.24dup, NM_001352212.2:c.24dup, NM_001352212.1:c.24dup, NM_001352220.2:c.24dup, NM_001352220.1:c.24dup, NM_001352217.2:c.24dup, NM_001352217.1:c.24dup, NM_001352211.2:c.24dup, NM_001352211.1:c.24dup, NM_001352224.2:c.24dup, NM_001352224.1:c.24dup, NM_001352196.2:c.981dup, NM_001352196.1:c.981dup, NM_001352197.2:c.909dup, NM_001352197.1:c.909dup, NM_001352223.2:c.324dup, NM_001352223.1:c.324dup, NM_001204081.2:c.249dup, NM_001204081.1:c.249dup, NM_001352214.2:c.24dup, NM_001352214.1:c.24dup, NM_001352213.2:c.24dup, NM_001352213.1:c.24dup, NM_001352216.2:c.24dup, NM_001352216.1:c.24dup, NM_001352188.1:c.3303dup, NM_001352187.1:c.3231dup, NM_001352185.1:c.3231dup, NM_001352190.1:c.891dup, NM_001352189.1:c.888dup, XM_005269029.6:c.3219dup, XM_005269029.5:c.3219dup, XM_005269029.4:c.3219dup, XM_005269029.3:c.3219dup, XM_005269029.2:c.3219dup, XM_005269029.1:c.3219dup, XM_006719508.5:c.3306dup, XM_006719508.4:c.3306dup, XM_006719508.3:c.3306dup, XM_006719508.2:c.3306dup, XM_006719508.1:c.3306dup, XM_006719510.5:c.3231dup, XM_006719510.4:c.3231dup, XM_006719510.3:c.3231dup, XM_006719510.2:c.3231dup, XM_006719510.1:c.3231dup, XM_006719505.5:c.3306dup, XM_006719505.4:c.3306dup, XM_006719505.3:c.3306dup, XM_006719505.2:c.3306dup, XM_006719505.1:c.3306dup, XM_006719504.5:c.3303dup, XM_006719504.4:c.3303dup, XM_006719504.3:c.3303dup, XM_006719504.2:c.3303dup, XM_006719504.1:c.3303dup, XM_006719512.5:c.3051dup, XM_006719512.4:c.3051dup, XM_006719512.3:c.3051dup, XM_006719512.2:c.3051dup, XM_006719512.1:c.3051dup, XM_006719513.5:c.3051dup, XM_006719513.4:c.3051dup, XM_006719513.3:c.3051dup, XM_006719513.2:c.3051dup, XM_006719513.1:c.3051dup, XM_006719507.5:c.3306dup, XM_006719507.4:c.3306dup, XM_006719507.3:c.3306dup, XM_006719507.2:c.3306dup, XM_006719507.1:c.3306dup, XM_006719514.5:c.3039dup, XM_006719514.4:c.3039dup, XM_006719514.3:c.3039dup, XM_006719514.2:c.3039dup, XM_006719514.1:c.3039dup, XM_011538571.4:c.3204dup, XM_011538571.3:c.3204dup, XM_011538571.2:c.3204dup, XM_011538571.1:c.3204dup, XM_017019652.3:c.3294dup, XM_017019652.2:c.3294dup, XM_017019652.1:c.3294dup, XM_024449061.2:c.2202dup, XM_024449061.1:c.2202dup, XM_024449060.2:c.2046dup, XM_024449060.1:c.2046dup, XM_024449069.2:c.813dup, XM_024449069.1:c.813dup, XM_024449065.2:c.891dup, XM_024449065.1:c.891dup, XM_047429165.1:c.2046dup, XM_047429166.1:c.2046dup, XM_047429167.1:c.2046dup, XM_047429168.1:c.879dup, XM_047429169.1:c.813dup, XM_047429170.1:c.321dup, NP_690001.3:p.Thr1078fs, NP_858056.2:p.Thr328fs, NP_064525.1:p.Thr244fs, NP_001339115.1:p.Thr1103fs, NP_001339129.1:p.Thr329fs, NP_001339127.1:p.Thr329fs, NP_001339134.1:p.Thr329fs, NP_001339124.1:p.Thr328fs, NP_001190997.1:p.Thr304fs, NP_001339133.1:p.Thr304fs, NP_001339131.1:p.Thr304fs, NP_001190998.1:p.Thr268fs, NP_001339135.1:p.Thr268fs, NP_001190999.1:p.Thr244fs, NP_001339128.1:p.Thr244fs, NP_001339132.1:p.Thr233fs, NP_001339122.1:p.Thr247fs, NP_001339121.1:p.Thr247fs, NP_001339123.1:p.Thr208fs, NP_001339130.1:p.Thr208fs, NP_001339120.1:p.Thr187fs, NP_001190996.1:p.Thr213fs, NP_001190995.1:p.Thr176fs, NP_001339137.1:p.Thr108fs, NP_001339148.1:p.Thr109fs, NP_001191008.1:p.Thr109fs, NP_001190994.1:p.Thr108fs, NP_001339151.1:p.Thr108fs, NP_001339136.1:p.Thr84fs, NP_001339138.1:p.Thr84fs, NP_001191009.1:p.Thr84fs, NP_001339150.1:p.Thr84fs, NP_001339139.1:p.Thr59fs, NP_001339154.1:p.Thr59fs, NP_001339147.1:p.Thr9fs, NP_001339141.1:p.Thr9fs, NP_001339149.1:p.Thr9fs, NP_001339146.1:p.Thr9fs, NP_001339140.1:p.Thr9fs, NP_001339153.1:p.Thr9fs, NP_001339125.1:p.Thr328fs, NP_001339126.1:p.Thr304fs, NP_001339152.1:p.Thr109fs, NP_001191010.1:p.Thr84fs, NP_001339143.1:p.Thr9fs, NP_001339142.1:p.Thr9fs, NP_001339145.1:p.Thr9fs, NP_001339117.1:p.Thr1102fs, NP_001339116.1:p.Thr1078fs, NP_001339114.1:p.Thr1078fs, NP_001339119.1:p.Thr298fs, NP_001339118.1:p.Thr297fs, XP_005269086.1:p.Thr1074fs, XP_006719571.1:p.Thr1103fs, XP_006719573.1:p.Thr1078fs, XP_006719568.1:p.Thr1103fs, XP_006719567.1:p.Thr1102fs, XP_006719575.1:p.Thr1018fs, XP_006719576.1:p.Thr1018fs, XP_006719570.1:p.Thr1103fs, XP_006719577.1:p.Thr1014fs, XP_011536873.1:p.Thr1069fs, XP_016875141.1:p.Thr1099fs, XP_024304829.1:p.Thr735fs, XP_024304828.1:p.Thr683fs, XP_024304837.1:p.Thr272fs, XP_024304833.1:p.Thr298fs, XP_047285121.1:p.Thr683fs, XP_047285122.1:p.Thr683fs, XP_047285123.1:p.Thr683fs, XP_047285124.1:p.Thr294fs, XP_047285125.1:p.Thr272fs, XP_047285126.1:p.Thr108fs

                  9.

                  rs1423974516 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    12:98781197 (GRCh38)
                    12:99174975 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:98781196:T:C
                    Gene:
                    ANKS1B (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0.000111/1 (ALFA)
                    C=0.000005/1 (GnomAD_exomes)
                    HGVS:
                    NC_000012.12:g.98781197T>C, NC_000012.11:g.99174975T>C, NG_029860.2:g.1208458A>G, NM_152788.4:c.3286A>G, NM_181670.4:c.1036A>G, NM_181670.3:c.1036A>G, NM_020140.4:c.784A>G, NM_020140.3:c.784A>G, NM_001352186.2:c.3361A>G, NM_001352186.1:c.3361A>G, NM_001352200.2:c.1039A>G, NM_001352200.1:c.1039A>G, NM_001352198.2:c.1039A>G, NM_001352198.1:c.1039A>G, NM_001352205.2:c.1039A>G, NM_001352205.1:c.1039A>G, NM_001352195.2:c.1036A>G, NM_001352195.1:c.1036A>G, NM_001204068.2:c.964A>G, NM_001204068.1:c.964A>G, NM_001352204.2:c.964A>G, NM_001352204.1:c.964A>G, NM_001352202.2:c.964A>G, NM_001352202.1:c.964A>G, NM_001204069.2:c.856A>G, NM_001204069.1:c.856A>G, NM_001352206.2:c.856A>G, NM_001352206.1:c.856A>G, NM_001204070.2:c.784A>G, NM_001204070.1:c.784A>G, NM_001352199.2:c.784A>G, NM_001352199.1:c.784A>G, NM_001352203.2:c.751A>G, NM_001352203.1:c.751A>G, NM_001352193.2:c.793A>G, NM_001352193.1:c.793A>G, NM_001352192.2:c.793A>G, NM_001352192.1:c.793A>G, NM_001352194.2:c.676A>G, NM_001352194.1:c.676A>G, NM_001352201.2:c.676A>G, NM_001352201.1:c.676A>G, NM_001352191.2:c.613A>G, NM_001352191.1:c.613A>G, NM_001204067.2:c.691A>G, NM_001204067.1:c.691A>G, NM_001204066.2:c.580A>G, NM_001204066.1:c.580A>G, NM_001352208.2:c.376A>G, NM_001352208.1:c.376A>G, NM_001352219.2:c.379A>G, NM_001352219.1:c.379A>G, NM_001204079.2:c.379A>G, NM_001204079.1:c.379A>G, NM_001204065.2:c.376A>G, NM_001204065.1:c.376A>G, NM_001352222.2:c.376A>G, NM_001352222.1:c.376A>G, NM_001352207.2:c.304A>G, NM_001352207.1:c.304A>G, NM_001352209.2:c.304A>G, NM_001352209.1:c.304A>G, NM_001204080.2:c.304A>G, NM_001204080.1:c.304A>G, NM_001352221.2:c.304A>G, NM_001352221.1:c.304A>G, NM_001352210.2:c.229A>G, NM_001352210.1:c.229A>G, NM_001352225.2:c.229A>G, NM_001352225.1:c.229A>G, NM_001352218.2:c.79A>G, NM_001352218.1:c.79A>G, NM_001352212.2:c.79A>G, NM_001352212.1:c.79A>G, NM_001352220.2:c.79A>G, NM_001352220.1:c.79A>G, NM_001352217.2:c.79A>G, NM_001352217.1:c.79A>G, NM_001352211.2:c.79A>G, NM_001352211.1:c.79A>G, NM_001352224.2:c.79A>G, NM_001352224.1:c.79A>G, NM_001352196.2:c.1036A>G, NM_001352196.1:c.1036A>G, NM_001352197.2:c.964A>G, NM_001352197.1:c.964A>G, NM_001352223.2:c.379A>G, NM_001352223.1:c.379A>G, NM_001204081.2:c.304A>G, NM_001204081.1:c.304A>G, NM_001352214.2:c.79A>G, NM_001352214.1:c.79A>G, NM_001352213.2:c.79A>G, NM_001352213.1:c.79A>G, NM_001352216.2:c.79A>G, NM_001352216.1:c.79A>G, NM_001352188.1:c.3358A>G, NM_001352187.1:c.3286A>G, NM_001352185.1:c.3286A>G, NM_001352190.1:c.946A>G, NM_001352189.1:c.943A>G, XM_005269029.6:c.3274A>G, XM_005269029.5:c.3274A>G, XM_005269029.4:c.3274A>G, XM_005269029.3:c.3274A>G, XM_005269029.2:c.3274A>G, XM_005269029.1:c.3274A>G, XM_006719508.5:c.3361A>G, XM_006719508.4:c.3361A>G, XM_006719508.3:c.3361A>G, XM_006719508.2:c.3361A>G, XM_006719508.1:c.3361A>G, XM_006719510.5:c.3286A>G, XM_006719510.4:c.3286A>G, XM_006719510.3:c.3286A>G, XM_006719510.2:c.3286A>G, XM_006719510.1:c.3286A>G, XM_006719505.5:c.3361A>G, XM_006719505.4:c.3361A>G, XM_006719505.3:c.3361A>G, XM_006719505.2:c.3361A>G, XM_006719505.1:c.3361A>G, XM_006719504.5:c.3358A>G, XM_006719504.4:c.3358A>G, XM_006719504.3:c.3358A>G, XM_006719504.2:c.3358A>G, XM_006719504.1:c.3358A>G, XM_006719512.5:c.3106A>G, XM_006719512.4:c.3106A>G, XM_006719512.3:c.3106A>G, XM_006719512.2:c.3106A>G, XM_006719512.1:c.3106A>G, XM_006719513.5:c.3106A>G, XM_006719513.4:c.3106A>G, XM_006719513.3:c.3106A>G, XM_006719513.2:c.3106A>G, XM_006719513.1:c.3106A>G, XM_006719507.5:c.3361A>G, XM_006719507.4:c.3361A>G, XM_006719507.3:c.3361A>G, XM_006719507.2:c.3361A>G, XM_006719507.1:c.3361A>G, XM_006719514.5:c.3094A>G, XM_006719514.4:c.3094A>G, XM_006719514.3:c.3094A>G, XM_006719514.2:c.3094A>G, XM_006719514.1:c.3094A>G, XM_011538571.4:c.3259A>G, XM_011538571.3:c.3259A>G, XM_011538571.2:c.3259A>G, XM_011538571.1:c.3259A>G, XM_017019652.3:c.3349A>G, XM_017019652.2:c.3349A>G, XM_017019652.1:c.3349A>G, XM_024449061.2:c.2257A>G, XM_024449061.1:c.2257A>G, XM_024449060.2:c.2101A>G, XM_024449060.1:c.2101A>G, XM_024449069.2:c.868A>G, XM_024449069.1:c.868A>G, XM_024449065.2:c.946A>G, XM_024449065.1:c.946A>G, XM_047429165.1:c.2101A>G, XM_047429166.1:c.2101A>G, XM_047429167.1:c.2101A>G, XM_047429168.1:c.934A>G, XM_047429169.1:c.868A>G, XM_047429170.1:c.376A>G, NP_690001.3:p.Thr1096Ala, NP_858056.2:p.Thr346Ala, NP_064525.1:p.Thr262Ala, NP_001339115.1:p.Thr1121Ala, NP_001339129.1:p.Thr347Ala, NP_001339127.1:p.Thr347Ala, NP_001339134.1:p.Thr347Ala, NP_001339124.1:p.Thr346Ala, NP_001190997.1:p.Thr322Ala, NP_001339133.1:p.Thr322Ala, NP_001339131.1:p.Thr322Ala, NP_001190998.1:p.Thr286Ala, NP_001339135.1:p.Thr286Ala, NP_001190999.1:p.Thr262Ala, NP_001339128.1:p.Thr262Ala, NP_001339132.1:p.Thr251Ala, NP_001339122.1:p.Thr265Ala, NP_001339121.1:p.Thr265Ala, NP_001339123.1:p.Thr226Ala, NP_001339130.1:p.Thr226Ala, NP_001339120.1:p.Thr205Ala, NP_001190996.1:p.Thr231Ala, NP_001190995.1:p.Thr194Ala, NP_001339137.1:p.Thr126Ala, NP_001339148.1:p.Thr127Ala, NP_001191008.1:p.Thr127Ala, NP_001190994.1:p.Thr126Ala, NP_001339151.1:p.Thr126Ala, NP_001339136.1:p.Thr102Ala, NP_001339138.1:p.Thr102Ala, NP_001191009.1:p.Thr102Ala, NP_001339150.1:p.Thr102Ala, NP_001339139.1:p.Thr77Ala, NP_001339154.1:p.Thr77Ala, NP_001339147.1:p.Thr27Ala, NP_001339141.1:p.Thr27Ala, NP_001339149.1:p.Thr27Ala, NP_001339146.1:p.Thr27Ala, NP_001339140.1:p.Thr27Ala, NP_001339153.1:p.Thr27Ala, NP_001339125.1:p.Thr346Ala, NP_001339126.1:p.Thr322Ala, NP_001339152.1:p.Thr127Ala, NP_001191010.1:p.Thr102Ala, NP_001339143.1:p.Thr27Ala, NP_001339142.1:p.Thr27Ala, NP_001339145.1:p.Thr27Ala, NP_001339117.1:p.Thr1120Ala, NP_001339116.1:p.Thr1096Ala, NP_001339114.1:p.Thr1096Ala, NP_001339119.1:p.Thr316Ala, NP_001339118.1:p.Thr315Ala, XP_005269086.1:p.Thr1092Ala, XP_006719571.1:p.Thr1121Ala, XP_006719573.1:p.Thr1096Ala, XP_006719568.1:p.Thr1121Ala, XP_006719567.1:p.Thr1120Ala, XP_006719575.1:p.Thr1036Ala, XP_006719576.1:p.Thr1036Ala, XP_006719570.1:p.Thr1121Ala, XP_006719577.1:p.Thr1032Ala, XP_011536873.1:p.Thr1087Ala, XP_016875141.1:p.Thr1117Ala, XP_024304829.1:p.Thr753Ala, XP_024304828.1:p.Thr701Ala, XP_024304837.1:p.Thr290Ala, XP_024304833.1:p.Thr316Ala, XP_047285121.1:p.Thr701Ala, XP_047285122.1:p.Thr701Ala, XP_047285123.1:p.Thr701Ala, XP_047285124.1:p.Thr312Ala, XP_047285125.1:p.Thr290Ala, XP_047285126.1:p.Thr126Ala

                    10.

                    rs1413216500 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      12:98781196 (GRCh38)
                      12:99174974 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:98781195:G:T
                      Gene:
                      ANKS1B (Varview)
                      Functional Consequence:
                      missense_variant,genic_downstream_transcript_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_000012.12:g.98781196G>T, NC_000012.11:g.99174974G>T, NG_029860.2:g.1208459C>A, NM_152788.4:c.3287C>A, NM_181670.4:c.1037C>A, NM_181670.3:c.1037C>A, NM_020140.4:c.785C>A, NM_020140.3:c.785C>A, NM_001352186.2:c.3362C>A, NM_001352186.1:c.3362C>A, NM_001352200.2:c.1040C>A, NM_001352200.1:c.1040C>A, NM_001352198.2:c.1040C>A, NM_001352198.1:c.1040C>A, NM_001352205.2:c.1040C>A, NM_001352205.1:c.1040C>A, NM_001352195.2:c.1037C>A, NM_001352195.1:c.1037C>A, NM_001204068.2:c.965C>A, NM_001204068.1:c.965C>A, NM_001352204.2:c.965C>A, NM_001352204.1:c.965C>A, NM_001352202.2:c.965C>A, NM_001352202.1:c.965C>A, NM_001204069.2:c.857C>A, NM_001204069.1:c.857C>A, NM_001352206.2:c.857C>A, NM_001352206.1:c.857C>A, NM_001204070.2:c.785C>A, NM_001204070.1:c.785C>A, NM_001352199.2:c.785C>A, NM_001352199.1:c.785C>A, NM_001352203.2:c.752C>A, NM_001352203.1:c.752C>A, NM_001352193.2:c.794C>A, NM_001352193.1:c.794C>A, NM_001352192.2:c.794C>A, NM_001352192.1:c.794C>A, NM_001352194.2:c.677C>A, NM_001352194.1:c.677C>A, NM_001352201.2:c.677C>A, NM_001352201.1:c.677C>A, NM_001352191.2:c.614C>A, NM_001352191.1:c.614C>A, NM_001204067.2:c.692C>A, NM_001204067.1:c.692C>A, NM_001204066.2:c.581C>A, NM_001204066.1:c.581C>A, NM_001352208.2:c.377C>A, NM_001352208.1:c.377C>A, NM_001352219.2:c.380C>A, NM_001352219.1:c.380C>A, NM_001204079.2:c.380C>A, NM_001204079.1:c.380C>A, NM_001204065.2:c.377C>A, NM_001204065.1:c.377C>A, NM_001352222.2:c.377C>A, NM_001352222.1:c.377C>A, NM_001352207.2:c.305C>A, NM_001352207.1:c.305C>A, NM_001352209.2:c.305C>A, NM_001352209.1:c.305C>A, NM_001204080.2:c.305C>A, NM_001204080.1:c.305C>A, NM_001352221.2:c.305C>A, NM_001352221.1:c.305C>A, NM_001352210.2:c.230C>A, NM_001352210.1:c.230C>A, NM_001352225.2:c.230C>A, NM_001352225.1:c.230C>A, NM_001352218.2:c.80C>A, NM_001352218.1:c.80C>A, NM_001352212.2:c.80C>A, NM_001352212.1:c.80C>A, NM_001352220.2:c.80C>A, NM_001352220.1:c.80C>A, NM_001352217.2:c.80C>A, NM_001352217.1:c.80C>A, NM_001352211.2:c.80C>A, NM_001352211.1:c.80C>A, NM_001352224.2:c.80C>A, NM_001352224.1:c.80C>A, NM_001352196.2:c.1037C>A, NM_001352196.1:c.1037C>A, NM_001352197.2:c.965C>A, NM_001352197.1:c.965C>A, NM_001352223.2:c.380C>A, NM_001352223.1:c.380C>A, NM_001204081.2:c.305C>A, NM_001204081.1:c.305C>A, NM_001352214.2:c.80C>A, NM_001352214.1:c.80C>A, NM_001352213.2:c.80C>A, NM_001352213.1:c.80C>A, NM_001352216.2:c.80C>A, NM_001352216.1:c.80C>A, NM_001352188.1:c.3359C>A, NM_001352187.1:c.3287C>A, NM_001352185.1:c.3287C>A, NM_001352190.1:c.947C>A, NM_001352189.1:c.944C>A, XM_005269029.6:c.3275C>A, XM_005269029.5:c.3275C>A, XM_005269029.4:c.3275C>A, XM_005269029.3:c.3275C>A, XM_005269029.2:c.3275C>A, XM_005269029.1:c.3275C>A, XM_006719508.5:c.3362C>A, XM_006719508.4:c.3362C>A, XM_006719508.3:c.3362C>A, XM_006719508.2:c.3362C>A, XM_006719508.1:c.3362C>A, XM_006719510.5:c.3287C>A, XM_006719510.4:c.3287C>A, XM_006719510.3:c.3287C>A, XM_006719510.2:c.3287C>A, XM_006719510.1:c.3287C>A, XM_006719505.5:c.3362C>A, XM_006719505.4:c.3362C>A, XM_006719505.3:c.3362C>A, XM_006719505.2:c.3362C>A, XM_006719505.1:c.3362C>A, XM_006719504.5:c.3359C>A, XM_006719504.4:c.3359C>A, XM_006719504.3:c.3359C>A, XM_006719504.2:c.3359C>A, XM_006719504.1:c.3359C>A, XM_006719512.5:c.3107C>A, XM_006719512.4:c.3107C>A, XM_006719512.3:c.3107C>A, XM_006719512.2:c.3107C>A, XM_006719512.1:c.3107C>A, XM_006719513.5:c.3107C>A, XM_006719513.4:c.3107C>A, XM_006719513.3:c.3107C>A, XM_006719513.2:c.3107C>A, XM_006719513.1:c.3107C>A, XM_006719507.5:c.3362C>A, XM_006719507.4:c.3362C>A, XM_006719507.3:c.3362C>A, XM_006719507.2:c.3362C>A, XM_006719507.1:c.3362C>A, XM_006719514.5:c.3095C>A, XM_006719514.4:c.3095C>A, XM_006719514.3:c.3095C>A, XM_006719514.2:c.3095C>A, XM_006719514.1:c.3095C>A, XM_011538571.4:c.3260C>A, XM_011538571.3:c.3260C>A, XM_011538571.2:c.3260C>A, XM_011538571.1:c.3260C>A, XM_017019652.3:c.3350C>A, XM_017019652.2:c.3350C>A, XM_017019652.1:c.3350C>A, XM_024449061.2:c.2258C>A, XM_024449061.1:c.2258C>A, XM_024449060.2:c.2102C>A, XM_024449060.1:c.2102C>A, XM_024449069.2:c.869C>A, XM_024449069.1:c.869C>A, XM_024449065.2:c.947C>A, XM_024449065.1:c.947C>A, XM_047429165.1:c.2102C>A, XM_047429166.1:c.2102C>A, XM_047429167.1:c.2102C>A, XM_047429168.1:c.935C>A, XM_047429169.1:c.869C>A, XM_047429170.1:c.377C>A, NP_690001.3:p.Thr1096Lys, NP_858056.2:p.Thr346Lys, NP_064525.1:p.Thr262Lys, NP_001339115.1:p.Thr1121Lys, NP_001339129.1:p.Thr347Lys, NP_001339127.1:p.Thr347Lys, NP_001339134.1:p.Thr347Lys, NP_001339124.1:p.Thr346Lys, NP_001190997.1:p.Thr322Lys, NP_001339133.1:p.Thr322Lys, NP_001339131.1:p.Thr322Lys, NP_001190998.1:p.Thr286Lys, NP_001339135.1:p.Thr286Lys, NP_001190999.1:p.Thr262Lys, NP_001339128.1:p.Thr262Lys, NP_001339132.1:p.Thr251Lys, NP_001339122.1:p.Thr265Lys, NP_001339121.1:p.Thr265Lys, NP_001339123.1:p.Thr226Lys, NP_001339130.1:p.Thr226Lys, NP_001339120.1:p.Thr205Lys, NP_001190996.1:p.Thr231Lys, NP_001190995.1:p.Thr194Lys, NP_001339137.1:p.Thr126Lys, NP_001339148.1:p.Thr127Lys, NP_001191008.1:p.Thr127Lys, NP_001190994.1:p.Thr126Lys, NP_001339151.1:p.Thr126Lys, NP_001339136.1:p.Thr102Lys, NP_001339138.1:p.Thr102Lys, NP_001191009.1:p.Thr102Lys, NP_001339150.1:p.Thr102Lys, NP_001339139.1:p.Thr77Lys, NP_001339154.1:p.Thr77Lys, NP_001339147.1:p.Thr27Lys, NP_001339141.1:p.Thr27Lys, NP_001339149.1:p.Thr27Lys, NP_001339146.1:p.Thr27Lys, NP_001339140.1:p.Thr27Lys, NP_001339153.1:p.Thr27Lys, NP_001339125.1:p.Thr346Lys, NP_001339126.1:p.Thr322Lys, NP_001339152.1:p.Thr127Lys, NP_001191010.1:p.Thr102Lys, NP_001339143.1:p.Thr27Lys, NP_001339142.1:p.Thr27Lys, NP_001339145.1:p.Thr27Lys, NP_001339117.1:p.Thr1120Lys, NP_001339116.1:p.Thr1096Lys, NP_001339114.1:p.Thr1096Lys, NP_001339119.1:p.Thr316Lys, NP_001339118.1:p.Thr315Lys, XP_005269086.1:p.Thr1092Lys, XP_006719571.1:p.Thr1121Lys, XP_006719573.1:p.Thr1096Lys, XP_006719568.1:p.Thr1121Lys, XP_006719567.1:p.Thr1120Lys, XP_006719575.1:p.Thr1036Lys, XP_006719576.1:p.Thr1036Lys, XP_006719570.1:p.Thr1121Lys, XP_006719577.1:p.Thr1032Lys, XP_011536873.1:p.Thr1087Lys, XP_016875141.1:p.Thr1117Lys, XP_024304829.1:p.Thr753Lys, XP_024304828.1:p.Thr701Lys, XP_024304837.1:p.Thr290Lys, XP_024304833.1:p.Thr316Lys, XP_047285121.1:p.Thr701Lys, XP_047285122.1:p.Thr701Lys, XP_047285123.1:p.Thr701Lys, XP_047285124.1:p.Thr312Lys, XP_047285125.1:p.Thr290Lys, XP_047285126.1:p.Thr126Lys

                      11.

                      rs1412393371 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        12:98773087 (GRCh38)
                        12:99166865 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:98773086:C:A
                        Gene:
                        ANKS1B (Varview)
                        Functional Consequence:
                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000012.12:g.98773087C>A, NC_000012.11:g.99166865C>A, NG_029860.2:g.1216568G>T, NM_152788.4:c.3459G>T, NM_181670.4:c.1209G>T, NM_181670.3:c.1209G>T, NM_020140.4:c.957G>T, NM_020140.3:c.957G>T, NM_001352186.2:c.3534G>T, NM_001352186.1:c.3534G>T, NM_001352200.2:c.1212G>T, NM_001352200.1:c.1212G>T, NM_001352198.2:c.1212G>T, NM_001352198.1:c.1212G>T, NM_001352205.2:c.1212G>T, NM_001352205.1:c.1212G>T, NM_001352195.2:c.1209G>T, NM_001352195.1:c.1209G>T, NM_001204068.2:c.1137G>T, NM_001204068.1:c.1137G>T, NM_001352204.2:c.1137G>T, NM_001352204.1:c.1137G>T, NM_001352202.2:c.1137G>T, NM_001352202.1:c.1137G>T, NM_001204069.2:c.1029G>T, NM_001204069.1:c.1029G>T, NM_001352206.2:c.1029G>T, NM_001352206.1:c.1029G>T, NM_001204070.2:c.957G>T, NM_001204070.1:c.957G>T, NM_001352199.2:c.957G>T, NM_001352199.1:c.957G>T, NM_001352203.2:c.924G>T, NM_001352203.1:c.924G>T, NM_001352193.2:c.966G>T, NM_001352193.1:c.966G>T, NM_001352192.2:c.966G>T, NM_001352192.1:c.966G>T, NM_001352194.2:c.849G>T, NM_001352194.1:c.849G>T, NM_001352201.2:c.849G>T, NM_001352201.1:c.849G>T, NM_001352191.2:c.786G>T, NM_001352191.1:c.786G>T, NM_001204067.2:c.864G>T, NM_001204067.1:c.864G>T, NM_001204066.2:c.753G>T, NM_001204066.1:c.753G>T, NM_001352208.2:c.549G>T, NM_001352208.1:c.549G>T, NM_001352219.2:c.552G>T, NM_001352219.1:c.552G>T, NM_001204079.2:c.552G>T, NM_001204079.1:c.552G>T, NM_001204065.2:c.549G>T, NM_001204065.1:c.549G>T, NM_001352222.2:c.549G>T, NM_001352222.1:c.549G>T, NM_001352207.2:c.477G>T, NM_001352207.1:c.477G>T, NM_001352209.2:c.477G>T, NM_001352209.1:c.477G>T, NM_001204080.2:c.477G>T, NM_001204080.1:c.477G>T, NM_001352221.2:c.477G>T, NM_001352221.1:c.477G>T, NM_001352210.2:c.402G>T, NM_001352210.1:c.402G>T, NM_001352225.2:c.402G>T, NM_001352225.1:c.402G>T, NM_001352218.2:c.252G>T, NM_001352218.1:c.252G>T, NM_001352212.2:c.252G>T, NM_001352212.1:c.252G>T, NM_001352220.2:c.252G>T, NM_001352220.1:c.252G>T, NM_001352217.2:c.252G>T, NM_001352217.1:c.252G>T, NM_001352211.2:c.252G>T, NM_001352211.1:c.252G>T, NM_001352224.2:c.252G>T, NM_001352224.1:c.252G>T, NM_001352196.2:c.1209G>T, NM_001352196.1:c.1209G>T, NM_001352197.2:c.1137G>T, NM_001352197.1:c.1137G>T, NM_001352223.2:c.552G>T, NM_001352223.1:c.552G>T, NM_001204081.2:c.477G>T, NM_001204081.1:c.477G>T, NM_001352214.2:c.252G>T, NM_001352214.1:c.252G>T, NM_001352213.2:c.252G>T, NM_001352213.1:c.252G>T, NM_001352216.2:c.252G>T, NM_001352216.1:c.252G>T, NM_001352188.1:c.3531G>T, NM_001352187.1:c.3459G>T, NM_001352185.1:c.3459G>T, NM_001352190.1:c.1119G>T, NM_001352189.1:c.1116G>T, XM_005269029.6:c.3447G>T, XM_005269029.5:c.3447G>T, XM_005269029.4:c.3447G>T, XM_005269029.3:c.3447G>T, XM_005269029.2:c.3447G>T, XM_005269029.1:c.3447G>T, XM_006719508.5:c.3534G>T, XM_006719508.4:c.3534G>T, XM_006719508.3:c.3534G>T, XM_006719508.2:c.3534G>T, XM_006719508.1:c.3534G>T, XM_006719510.5:c.3459G>T, XM_006719510.4:c.3459G>T, XM_006719510.3:c.3459G>T, XM_006719510.2:c.3459G>T, XM_006719510.1:c.3459G>T, XM_006719505.5:c.3534G>T, XM_006719505.4:c.3534G>T, XM_006719505.3:c.3534G>T, XM_006719505.2:c.3534G>T, XM_006719505.1:c.3534G>T, XM_006719504.5:c.3531G>T, XM_006719504.4:c.3531G>T, XM_006719504.3:c.3531G>T, XM_006719504.2:c.3531G>T, XM_006719504.1:c.3531G>T, XM_006719512.5:c.3279G>T, XM_006719512.4:c.3279G>T, XM_006719512.3:c.3279G>T, XM_006719512.2:c.3279G>T, XM_006719512.1:c.3279G>T, XM_006719513.5:c.3279G>T, XM_006719513.4:c.3279G>T, XM_006719513.3:c.3279G>T, XM_006719513.2:c.3279G>T, XM_006719513.1:c.3279G>T, XM_006719507.5:c.3534G>T, XM_006719507.4:c.3534G>T, XM_006719507.3:c.3534G>T, XM_006719507.2:c.3534G>T, XM_006719507.1:c.3534G>T, XM_006719514.5:c.3267G>T, XM_006719514.4:c.3267G>T, XM_006719514.3:c.3267G>T, XM_006719514.2:c.3267G>T, XM_006719514.1:c.3267G>T, XM_011538571.4:c.3432G>T, XM_011538571.3:c.3432G>T, XM_011538571.2:c.3432G>T, XM_011538571.1:c.3432G>T, XM_017019652.3:c.3522G>T, XM_017019652.2:c.3522G>T, XM_017019652.1:c.3522G>T, XM_024449061.2:c.2430G>T, XM_024449061.1:c.2430G>T, XM_024449060.2:c.2274G>T, XM_024449060.1:c.2274G>T, XM_024449069.2:c.1041G>T, XM_024449069.1:c.1041G>T, XM_024449065.2:c.1119G>T, XM_024449065.1:c.1119G>T, XM_047429165.1:c.2274G>T, XM_047429166.1:c.2274G>T, XM_047429167.1:c.2274G>T, XM_047429168.1:c.1107G>T, XM_047429169.1:c.1041G>T, XM_047429170.1:c.549G>T, NP_690001.3:p.Leu1153Phe, NP_858056.2:p.Leu403Phe, NP_064525.1:p.Leu319Phe, NP_001339115.1:p.Leu1178Phe, NP_001339129.1:p.Leu404Phe, NP_001339127.1:p.Leu404Phe, NP_001339134.1:p.Leu404Phe, NP_001339124.1:p.Leu403Phe, NP_001190997.1:p.Leu379Phe, NP_001339133.1:p.Leu379Phe, NP_001339131.1:p.Leu379Phe, NP_001190998.1:p.Leu343Phe, NP_001339135.1:p.Leu343Phe, NP_001190999.1:p.Leu319Phe, NP_001339128.1:p.Leu319Phe, NP_001339132.1:p.Leu308Phe, NP_001339122.1:p.Leu322Phe, NP_001339121.1:p.Leu322Phe, NP_001339123.1:p.Leu283Phe, NP_001339130.1:p.Leu283Phe, NP_001339120.1:p.Leu262Phe, NP_001190996.1:p.Leu288Phe, NP_001190995.1:p.Leu251Phe, NP_001339137.1:p.Leu183Phe, NP_001339148.1:p.Leu184Phe, NP_001191008.1:p.Leu184Phe, NP_001190994.1:p.Leu183Phe, NP_001339151.1:p.Leu183Phe, NP_001339136.1:p.Leu159Phe, NP_001339138.1:p.Leu159Phe, NP_001191009.1:p.Leu159Phe, NP_001339150.1:p.Leu159Phe, NP_001339139.1:p.Leu134Phe, NP_001339154.1:p.Leu134Phe, NP_001339147.1:p.Leu84Phe, NP_001339141.1:p.Leu84Phe, NP_001339149.1:p.Leu84Phe, NP_001339146.1:p.Leu84Phe, NP_001339140.1:p.Leu84Phe, NP_001339153.1:p.Leu84Phe, NP_001339125.1:p.Leu403Phe, NP_001339126.1:p.Leu379Phe, NP_001339152.1:p.Leu184Phe, NP_001191010.1:p.Leu159Phe, NP_001339143.1:p.Leu84Phe, NP_001339142.1:p.Leu84Phe, NP_001339145.1:p.Leu84Phe, NP_001339117.1:p.Leu1177Phe, NP_001339116.1:p.Leu1153Phe, NP_001339114.1:p.Leu1153Phe, NP_001339119.1:p.Leu373Phe, NP_001339118.1:p.Leu372Phe, XP_005269086.1:p.Leu1149Phe, XP_006719571.1:p.Leu1178Phe, XP_006719573.1:p.Leu1153Phe, XP_006719568.1:p.Leu1178Phe, XP_006719567.1:p.Leu1177Phe, XP_006719575.1:p.Leu1093Phe, XP_006719576.1:p.Leu1093Phe, XP_006719570.1:p.Leu1178Phe, XP_006719577.1:p.Leu1089Phe, XP_011536873.1:p.Leu1144Phe, XP_016875141.1:p.Leu1174Phe, XP_024304829.1:p.Leu810Phe, XP_024304828.1:p.Leu758Phe, XP_024304837.1:p.Leu347Phe, XP_024304833.1:p.Leu373Phe, XP_047285121.1:p.Leu758Phe, XP_047285122.1:p.Leu758Phe, XP_047285123.1:p.Leu758Phe, XP_047285124.1:p.Leu369Phe, XP_047285125.1:p.Leu347Phe, XP_047285126.1:p.Leu183Phe

                        12.

                        rs1410929626 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          12:98798936 (GRCh38)
                          12:99192714 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:98798935:G:A,NC_000012.12:98798935:G:T
                          Gene:
                          ANKS1B (Varview)
                          Functional Consequence:
                          missense_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000012.12:g.98798936G>A, NC_000012.12:g.98798936G>T, NC_000012.11:g.99192714G>A, NC_000012.11:g.99192714G>T, NG_029860.2:g.1190719C>T, NG_029860.2:g.1190719C>A, NM_152788.4:c.3265C>T, NM_152788.4:c.3265C>A, NM_181670.4:c.1015C>T, NM_181670.4:c.1015C>A, NM_181670.3:c.1015C>T, NM_181670.3:c.1015C>A, NM_020140.4:c.763C>T, NM_020140.4:c.763C>A, NM_020140.3:c.763C>T, NM_020140.3:c.763C>A, NM_001352186.2:c.3340C>T, NM_001352186.2:c.3340C>A, NM_001352186.1:c.3340C>T, NM_001352186.1:c.3340C>A, NM_001352200.2:c.1018C>T, NM_001352200.2:c.1018C>A, NM_001352200.1:c.1018C>T, NM_001352200.1:c.1018C>A, NM_001352198.2:c.1018C>T, NM_001352198.2:c.1018C>A, NM_001352198.1:c.1018C>T, NM_001352198.1:c.1018C>A, NM_001352205.2:c.1018C>T, NM_001352205.2:c.1018C>A, NM_001352205.1:c.1018C>T, NM_001352205.1:c.1018C>A, NM_001352195.2:c.1015C>T, NM_001352195.2:c.1015C>A, NM_001352195.1:c.1015C>T, NM_001352195.1:c.1015C>A, NM_001204068.2:c.943C>T, NM_001204068.2:c.943C>A, NM_001204068.1:c.943C>T, NM_001204068.1:c.943C>A, NM_001352204.2:c.943C>T, NM_001352204.2:c.943C>A, NM_001352204.1:c.943C>T, NM_001352204.1:c.943C>A, NM_001352202.2:c.943C>T, NM_001352202.2:c.943C>A, NM_001352202.1:c.943C>T, NM_001352202.1:c.943C>A, NM_001204069.2:c.835C>T, NM_001204069.2:c.835C>A, NM_001204069.1:c.835C>T, NM_001204069.1:c.835C>A, NM_001352206.2:c.835C>T, NM_001352206.2:c.835C>A, NM_001352206.1:c.835C>T, NM_001352206.1:c.835C>A, NM_001204070.2:c.763C>T, NM_001204070.2:c.763C>A, NM_001204070.1:c.763C>T, NM_001204070.1:c.763C>A, NM_001352199.2:c.763C>T, NM_001352199.2:c.763C>A, NM_001352199.1:c.763C>T, NM_001352199.1:c.763C>A, NM_001352203.2:c.730C>T, NM_001352203.2:c.730C>A, NM_001352203.1:c.730C>T, NM_001352203.1:c.730C>A, NM_001352193.2:c.772C>T, NM_001352193.2:c.772C>A, NM_001352193.1:c.772C>T, NM_001352193.1:c.772C>A, NM_001352192.2:c.772C>T, NM_001352192.2:c.772C>A, NM_001352192.1:c.772C>T, NM_001352192.1:c.772C>A, NM_001352194.2:c.655C>T, NM_001352194.2:c.655C>A, NM_001352194.1:c.655C>T, NM_001352194.1:c.655C>A, NM_001352201.2:c.655C>T, NM_001352201.2:c.655C>A, NM_001352201.1:c.655C>T, NM_001352201.1:c.655C>A, NM_001352191.2:c.592C>T, NM_001352191.2:c.592C>A, NM_001352191.1:c.592C>T, NM_001352191.1:c.592C>A, NM_001204067.2:c.670C>T, NM_001204067.2:c.670C>A, NM_001204067.1:c.670C>T, NM_001204067.1:c.670C>A, NM_001204066.2:c.559C>T, NM_001204066.2:c.559C>A, NM_001204066.1:c.559C>T, NM_001204066.1:c.559C>A, NM_001352208.2:c.355C>T, NM_001352208.2:c.355C>A, NM_001352208.1:c.355C>T, NM_001352208.1:c.355C>A, NM_001352219.2:c.358C>T, NM_001352219.2:c.358C>A, NM_001352219.1:c.358C>T, NM_001352219.1:c.358C>A, NM_001204079.2:c.358C>T, NM_001204079.2:c.358C>A, NM_001204079.1:c.358C>T, NM_001204079.1:c.358C>A, NM_001204065.2:c.355C>T, NM_001204065.2:c.355C>A, NM_001204065.1:c.355C>T, NM_001204065.1:c.355C>A, NM_001352222.2:c.355C>T, NM_001352222.2:c.355C>A, NM_001352222.1:c.355C>T, NM_001352222.1:c.355C>A, NM_001352207.2:c.283C>T, NM_001352207.2:c.283C>A, NM_001352207.1:c.283C>T, NM_001352207.1:c.283C>A, NM_001352209.2:c.283C>T, NM_001352209.2:c.283C>A, NM_001352209.1:c.283C>T, NM_001352209.1:c.283C>A, NM_001204080.2:c.283C>T, NM_001204080.2:c.283C>A, NM_001204080.1:c.283C>T, NM_001204080.1:c.283C>A, NM_001352221.2:c.283C>T, NM_001352221.2:c.283C>A, NM_001352221.1:c.283C>T, NM_001352221.1:c.283C>A, NM_001352210.2:c.208C>T, NM_001352210.2:c.208C>A, NM_001352210.1:c.208C>T, NM_001352210.1:c.208C>A, NM_001352225.2:c.208C>T, NM_001352225.2:c.208C>A, NM_001352225.1:c.208C>T, NM_001352225.1:c.208C>A, NM_001352218.2:c.58C>T, NM_001352218.2:c.58C>A, NM_001352218.1:c.58C>T, NM_001352218.1:c.58C>A, NM_001352212.2:c.58C>T, NM_001352212.2:c.58C>A, NM_001352212.1:c.58C>T, NM_001352212.1:c.58C>A, NM_001352220.2:c.58C>T, NM_001352220.2:c.58C>A, NM_001352220.1:c.58C>T, NM_001352220.1:c.58C>A, NM_001352217.2:c.58C>T, NM_001352217.2:c.58C>A, NM_001352217.1:c.58C>T, NM_001352217.1:c.58C>A, NM_001352211.2:c.58C>T, NM_001352211.2:c.58C>A, NM_001352211.1:c.58C>T, NM_001352211.1:c.58C>A, NM_001352224.2:c.58C>T, NM_001352224.2:c.58C>A, NM_001352224.1:c.58C>T, NM_001352224.1:c.58C>A, NM_001352196.2:c.1015C>T, NM_001352196.2:c.1015C>A, NM_001352196.1:c.1015C>T, NM_001352196.1:c.1015C>A, NM_001352197.2:c.943C>T, NM_001352197.2:c.943C>A, NM_001352197.1:c.943C>T, NM_001352197.1:c.943C>A, NM_001352223.2:c.358C>T, NM_001352223.2:c.358C>A, NM_001352223.1:c.358C>T, NM_001352223.1:c.358C>A, NM_001204081.2:c.283C>T, NM_001204081.2:c.283C>A, NM_001204081.1:c.283C>T, NM_001204081.1:c.283C>A, NM_001352214.2:c.58C>T, NM_001352214.2:c.58C>A, NM_001352214.1:c.58C>T, NM_001352214.1:c.58C>A, NM_001352213.2:c.58C>T, NM_001352213.2:c.58C>A, NM_001352213.1:c.58C>T, NM_001352213.1:c.58C>A, NM_001352216.2:c.58C>T, NM_001352216.2:c.58C>A, NM_001352216.1:c.58C>T, NM_001352216.1:c.58C>A, NM_001352188.1:c.3337C>T, NM_001352188.1:c.3337C>A, NM_001352187.1:c.3265C>T, NM_001352187.1:c.3265C>A, NM_001352185.1:c.3265C>T, NM_001352185.1:c.3265C>A, NM_001352190.1:c.925C>T, NM_001352190.1:c.925C>A, NM_001352189.1:c.922C>T, NM_001352189.1:c.922C>A, XM_005269029.6:c.3253C>T, XM_005269029.6:c.3253C>A, XM_005269029.5:c.3253C>T, XM_005269029.5:c.3253C>A, XM_005269029.4:c.3253C>T, XM_005269029.4:c.3253C>A, XM_005269029.3:c.3253C>T, XM_005269029.3:c.3253C>A, XM_005269029.2:c.3253C>T, XM_005269029.2:c.3253C>A, XM_005269029.1:c.3253C>T, XM_005269029.1:c.3253C>A, XM_006719508.5:c.3340C>T, XM_006719508.5:c.3340C>A, XM_006719508.4:c.3340C>T, XM_006719508.4:c.3340C>A, XM_006719508.3:c.3340C>T, XM_006719508.3:c.3340C>A, XM_006719508.2:c.3340C>T, XM_006719508.2:c.3340C>A, XM_006719508.1:c.3340C>T, XM_006719508.1:c.3340C>A, XM_006719510.5:c.3265C>T, XM_006719510.5:c.3265C>A, XM_006719510.4:c.3265C>T, XM_006719510.4:c.3265C>A, XM_006719510.3:c.3265C>T, XM_006719510.3:c.3265C>A, XM_006719510.2:c.3265C>T, XM_006719510.2:c.3265C>A, XM_006719510.1:c.3265C>T, XM_006719510.1:c.3265C>A, XM_006719505.5:c.3340C>T, XM_006719505.5:c.3340C>A, XM_006719505.4:c.3340C>T, XM_006719505.4:c.3340C>A, XM_006719505.3:c.3340C>T, XM_006719505.3:c.3340C>A, XM_006719505.2:c.3340C>T, XM_006719505.2:c.3340C>A, XM_006719505.1:c.3340C>T, XM_006719505.1:c.3340C>A, XM_006719504.5:c.3337C>T, XM_006719504.5:c.3337C>A, XM_006719504.4:c.3337C>T, XM_006719504.4:c.3337C>A, XM_006719504.3:c.3337C>T, XM_006719504.3:c.3337C>A, XM_006719504.2:c.3337C>T, XM_006719504.2:c.3337C>A, XM_006719504.1:c.3337C>T, XM_006719504.1:c.3337C>A, XM_006719512.5:c.3085C>T, XM_006719512.5:c.3085C>A, XM_006719512.4:c.3085C>T, XM_006719512.4:c.3085C>A, XM_006719512.3:c.3085C>T, XM_006719512.3:c.3085C>A, XM_006719512.2:c.3085C>T, XM_006719512.2:c.3085C>A, XM_006719512.1:c.3085C>T, XM_006719512.1:c.3085C>A, XM_006719513.5:c.3085C>T, XM_006719513.5:c.3085C>A, XM_006719513.4:c.3085C>T, XM_006719513.4:c.3085C>A, XM_006719513.3:c.3085C>T, XM_006719513.3:c.3085C>A, XM_006719513.2:c.3085C>T, XM_006719513.2:c.3085C>A, XM_006719513.1:c.3085C>T, XM_006719513.1:c.3085C>A, XM_006719507.5:c.3340C>T, XM_006719507.5:c.3340C>A, XM_006719507.4:c.3340C>T, XM_006719507.4:c.3340C>A, XM_006719507.3:c.3340C>T, XM_006719507.3:c.3340C>A, XM_006719507.2:c.3340C>T, XM_006719507.2:c.3340C>A, XM_006719507.1:c.3340C>T, XM_006719507.1:c.3340C>A, XM_006719514.5:c.3073C>T, XM_006719514.5:c.3073C>A, XM_006719514.4:c.3073C>T, XM_006719514.4:c.3073C>A, XM_006719514.3:c.3073C>T, XM_006719514.3:c.3073C>A, XM_006719514.2:c.3073C>T, XM_006719514.2:c.3073C>A, XM_006719514.1:c.3073C>T, XM_006719514.1:c.3073C>A, XM_011538571.4:c.3238C>T, XM_011538571.4:c.3238C>A, XM_011538571.3:c.3238C>T, XM_011538571.3:c.3238C>A, XM_011538571.2:c.3238C>T, XM_011538571.2:c.3238C>A, XM_011538571.1:c.3238C>T, XM_011538571.1:c.3238C>A, XM_017019652.3:c.3328C>T, XM_017019652.3:c.3328C>A, XM_017019652.2:c.3328C>T, XM_017019652.2:c.3328C>A, XM_017019652.1:c.3328C>T, XM_017019652.1:c.3328C>A, XM_024449061.2:c.2236C>T, XM_024449061.2:c.2236C>A, XM_024449061.1:c.2236C>T, XM_024449061.1:c.2236C>A, XM_024449060.2:c.2080C>T, XM_024449060.2:c.2080C>A, XM_024449060.1:c.2080C>T, XM_024449060.1:c.2080C>A, XM_024449069.2:c.847C>T, XM_024449069.2:c.847C>A, XM_024449069.1:c.847C>T, XM_024449069.1:c.847C>A, XM_024449065.2:c.925C>T, XM_024449065.2:c.925C>A, XM_024449065.1:c.925C>T, XM_024449065.1:c.925C>A, XM_047429165.1:c.2080C>T, XM_047429165.1:c.2080C>A, XM_047429166.1:c.2080C>T, XM_047429166.1:c.2080C>A, XM_047429167.1:c.2080C>T, XM_047429167.1:c.2080C>A, XM_047429168.1:c.913C>T, XM_047429168.1:c.913C>A, XM_047429169.1:c.847C>T, XM_047429169.1:c.847C>A, XM_047429170.1:c.355C>T, XM_047429170.1:c.355C>A, NP_690001.3:p.Arg1089Trp, NP_858056.2:p.Arg339Trp, NP_064525.1:p.Arg255Trp, NP_001339115.1:p.Arg1114Trp, NP_001339129.1:p.Arg340Trp, NP_001339127.1:p.Arg340Trp, NP_001339134.1:p.Arg340Trp, NP_001339124.1:p.Arg339Trp, NP_001190997.1:p.Arg315Trp, NP_001339133.1:p.Arg315Trp, NP_001339131.1:p.Arg315Trp, NP_001190998.1:p.Arg279Trp, NP_001339135.1:p.Arg279Trp, NP_001190999.1:p.Arg255Trp, NP_001339128.1:p.Arg255Trp, NP_001339132.1:p.Arg244Trp, NP_001339122.1:p.Arg258Trp, NP_001339121.1:p.Arg258Trp, NP_001339123.1:p.Arg219Trp, NP_001339130.1:p.Arg219Trp, NP_001339120.1:p.Arg198Trp, NP_001190996.1:p.Arg224Trp, NP_001190995.1:p.Arg187Trp, NP_001339137.1:p.Arg119Trp, NP_001339148.1:p.Arg120Trp, NP_001191008.1:p.Arg120Trp, NP_001190994.1:p.Arg119Trp, NP_001339151.1:p.Arg119Trp, NP_001339136.1:p.Arg95Trp, NP_001339138.1:p.Arg95Trp, NP_001191009.1:p.Arg95Trp, NP_001339150.1:p.Arg95Trp, NP_001339139.1:p.Arg70Trp, NP_001339154.1:p.Arg70Trp, NP_001339147.1:p.Arg20Trp, NP_001339141.1:p.Arg20Trp, NP_001339149.1:p.Arg20Trp, NP_001339146.1:p.Arg20Trp, NP_001339140.1:p.Arg20Trp, NP_001339153.1:p.Arg20Trp, NP_001339125.1:p.Arg339Trp, NP_001339126.1:p.Arg315Trp, NP_001339152.1:p.Arg120Trp, NP_001191010.1:p.Arg95Trp, NP_001339143.1:p.Arg20Trp, NP_001339142.1:p.Arg20Trp, NP_001339145.1:p.Arg20Trp, NP_001339117.1:p.Arg1113Trp, NP_001339116.1:p.Arg1089Trp, NP_001339114.1:p.Arg1089Trp, NP_001339119.1:p.Arg309Trp, NP_001339118.1:p.Arg308Trp, XP_005269086.1:p.Arg1085Trp, XP_006719571.1:p.Arg1114Trp, XP_006719573.1:p.Arg1089Trp, XP_006719568.1:p.Arg1114Trp, XP_006719567.1:p.Arg1113Trp, XP_006719575.1:p.Arg1029Trp, XP_006719576.1:p.Arg1029Trp, XP_006719570.1:p.Arg1114Trp, XP_006719577.1:p.Arg1025Trp, XP_011536873.1:p.Arg1080Trp, XP_016875141.1:p.Arg1110Trp, XP_024304829.1:p.Arg746Trp, XP_024304828.1:p.Arg694Trp, XP_024304837.1:p.Arg283Trp, XP_024304833.1:p.Arg309Trp, XP_047285121.1:p.Arg694Trp, XP_047285122.1:p.Arg694Trp, XP_047285123.1:p.Arg694Trp, XP_047285124.1:p.Arg305Trp, XP_047285125.1:p.Arg283Trp, XP_047285126.1:p.Arg119Trp

                          13.

                          rs1405143215 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            12:98798973 (GRCh38)
                            12:99192751 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:98798972:C:A,NC_000012.12:98798972:C:T
                            Gene:
                            ANKS1B (Varview)
                            Functional Consequence:
                            synonymous_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000012.12:g.98798973C>A, NC_000012.12:g.98798973C>T, NC_000012.11:g.99192751C>A, NC_000012.11:g.99192751C>T, NG_029860.2:g.1190682G>T, NG_029860.2:g.1190682G>A, NM_152788.4:c.3228G>T, NM_152788.4:c.3228G>A, NM_181670.4:c.978G>T, NM_181670.4:c.978G>A, NM_181670.3:c.978G>T, NM_181670.3:c.978G>A, NM_020140.4:c.726G>T, NM_020140.4:c.726G>A, NM_020140.3:c.726G>T, NM_020140.3:c.726G>A, NM_001352186.2:c.3303G>T, NM_001352186.2:c.3303G>A, NM_001352186.1:c.3303G>T, NM_001352186.1:c.3303G>A, NM_001352200.2:c.981G>T, NM_001352200.2:c.981G>A, NM_001352200.1:c.981G>T, NM_001352200.1:c.981G>A, NM_001352198.2:c.981G>T, NM_001352198.2:c.981G>A, NM_001352198.1:c.981G>T, NM_001352198.1:c.981G>A, NM_001352205.2:c.981G>T, NM_001352205.2:c.981G>A, NM_001352205.1:c.981G>T, NM_001352205.1:c.981G>A, NM_001352195.2:c.978G>T, NM_001352195.2:c.978G>A, NM_001352195.1:c.978G>T, NM_001352195.1:c.978G>A, NM_001204068.2:c.906G>T, NM_001204068.2:c.906G>A, NM_001204068.1:c.906G>T, NM_001204068.1:c.906G>A, NM_001352204.2:c.906G>T, NM_001352204.2:c.906G>A, NM_001352204.1:c.906G>T, NM_001352204.1:c.906G>A, NM_001352202.2:c.906G>T, NM_001352202.2:c.906G>A, NM_001352202.1:c.906G>T, NM_001352202.1:c.906G>A, NM_001204069.2:c.798G>T, NM_001204069.2:c.798G>A, NM_001204069.1:c.798G>T, NM_001204069.1:c.798G>A, NM_001352206.2:c.798G>T, NM_001352206.2:c.798G>A, NM_001352206.1:c.798G>T, NM_001352206.1:c.798G>A, NM_001204070.2:c.726G>T, NM_001204070.2:c.726G>A, NM_001204070.1:c.726G>T, NM_001204070.1:c.726G>A, NM_001352199.2:c.726G>T, NM_001352199.2:c.726G>A, NM_001352199.1:c.726G>T, NM_001352199.1:c.726G>A, NM_001352203.2:c.693G>T, NM_001352203.2:c.693G>A, NM_001352203.1:c.693G>T, NM_001352203.1:c.693G>A, NM_001352193.2:c.735G>T, NM_001352193.2:c.735G>A, NM_001352193.1:c.735G>T, NM_001352193.1:c.735G>A, NM_001352192.2:c.735G>T, NM_001352192.2:c.735G>A, NM_001352192.1:c.735G>T, NM_001352192.1:c.735G>A, NM_001352194.2:c.618G>T, NM_001352194.2:c.618G>A, NM_001352194.1:c.618G>T, NM_001352194.1:c.618G>A, NM_001352201.2:c.618G>T, NM_001352201.2:c.618G>A, NM_001352201.1:c.618G>T, NM_001352201.1:c.618G>A, NM_001352191.2:c.555G>T, NM_001352191.2:c.555G>A, NM_001352191.1:c.555G>T, NM_001352191.1:c.555G>A, NM_001204067.2:c.633G>T, NM_001204067.2:c.633G>A, NM_001204067.1:c.633G>T, NM_001204067.1:c.633G>A, NM_001204066.2:c.522G>T, NM_001204066.2:c.522G>A, NM_001204066.1:c.522G>T, NM_001204066.1:c.522G>A, NM_001352208.2:c.318G>T, NM_001352208.2:c.318G>A, NM_001352208.1:c.318G>T, NM_001352208.1:c.318G>A, NM_001352219.2:c.321G>T, NM_001352219.2:c.321G>A, NM_001352219.1:c.321G>T, NM_001352219.1:c.321G>A, NM_001204079.2:c.321G>T, NM_001204079.2:c.321G>A, NM_001204079.1:c.321G>T, NM_001204079.1:c.321G>A, NM_001204065.2:c.318G>T, NM_001204065.2:c.318G>A, NM_001204065.1:c.318G>T, NM_001204065.1:c.318G>A, NM_001352222.2:c.318G>T, NM_001352222.2:c.318G>A, NM_001352222.1:c.318G>T, NM_001352222.1:c.318G>A, NM_001352207.2:c.246G>T, NM_001352207.2:c.246G>A, NM_001352207.1:c.246G>T, NM_001352207.1:c.246G>A, NM_001352209.2:c.246G>T, NM_001352209.2:c.246G>A, NM_001352209.1:c.246G>T, NM_001352209.1:c.246G>A, NM_001204080.2:c.246G>T, NM_001204080.2:c.246G>A, NM_001204080.1:c.246G>T, NM_001204080.1:c.246G>A, NM_001352221.2:c.246G>T, NM_001352221.2:c.246G>A, NM_001352221.1:c.246G>T, NM_001352221.1:c.246G>A, NM_001352210.2:c.171G>T, NM_001352210.2:c.171G>A, NM_001352210.1:c.171G>T, NM_001352210.1:c.171G>A, NM_001352225.2:c.171G>T, NM_001352225.2:c.171G>A, NM_001352225.1:c.171G>T, NM_001352225.1:c.171G>A, NM_001352218.2:c.21G>T, NM_001352218.2:c.21G>A, NM_001352218.1:c.21G>T, NM_001352218.1:c.21G>A, NM_001352212.2:c.21G>T, NM_001352212.2:c.21G>A, NM_001352212.1:c.21G>T, NM_001352212.1:c.21G>A, NM_001352220.2:c.21G>T, NM_001352220.2:c.21G>A, NM_001352220.1:c.21G>T, NM_001352220.1:c.21G>A, NM_001352217.2:c.21G>T, NM_001352217.2:c.21G>A, NM_001352217.1:c.21G>T, NM_001352217.1:c.21G>A, NM_001352211.2:c.21G>T, NM_001352211.2:c.21G>A, NM_001352211.1:c.21G>T, NM_001352211.1:c.21G>A, NM_001352224.2:c.21G>T, NM_001352224.2:c.21G>A, NM_001352224.1:c.21G>T, NM_001352224.1:c.21G>A, NM_001352196.2:c.978G>T, NM_001352196.2:c.978G>A, NM_001352196.1:c.978G>T, NM_001352196.1:c.978G>A, NM_001352197.2:c.906G>T, NM_001352197.2:c.906G>A, NM_001352197.1:c.906G>T, NM_001352197.1:c.906G>A, NM_001352223.2:c.321G>T, NM_001352223.2:c.321G>A, NM_001352223.1:c.321G>T, NM_001352223.1:c.321G>A, NM_001204081.2:c.246G>T, NM_001204081.2:c.246G>A, NM_001204081.1:c.246G>T, NM_001204081.1:c.246G>A, NM_001352214.2:c.21G>T, NM_001352214.2:c.21G>A, NM_001352214.1:c.21G>T, NM_001352214.1:c.21G>A, NM_001352213.2:c.21G>T, NM_001352213.2:c.21G>A, NM_001352213.1:c.21G>T, NM_001352213.1:c.21G>A, NM_001352216.2:c.21G>T, NM_001352216.2:c.21G>A, NM_001352216.1:c.21G>T, NM_001352216.1:c.21G>A, NM_001352188.1:c.3300G>T, NM_001352188.1:c.3300G>A, NM_001352187.1:c.3228G>T, NM_001352187.1:c.3228G>A, NM_001352185.1:c.3228G>T, NM_001352185.1:c.3228G>A, NM_001352190.1:c.888G>T, NM_001352190.1:c.888G>A, NM_001352189.1:c.885G>T, NM_001352189.1:c.885G>A, XM_005269029.6:c.3216G>T, XM_005269029.6:c.3216G>A, XM_005269029.5:c.3216G>T, XM_005269029.5:c.3216G>A, XM_005269029.4:c.3216G>T, XM_005269029.4:c.3216G>A, XM_005269029.3:c.3216G>T, XM_005269029.3:c.3216G>A, XM_005269029.2:c.3216G>T, XM_005269029.2:c.3216G>A, XM_005269029.1:c.3216G>T, XM_005269029.1:c.3216G>A, XM_006719508.5:c.3303G>T, XM_006719508.5:c.3303G>A, XM_006719508.4:c.3303G>T, XM_006719508.4:c.3303G>A, XM_006719508.3:c.3303G>T, XM_006719508.3:c.3303G>A, XM_006719508.2:c.3303G>T, XM_006719508.2:c.3303G>A, XM_006719508.1:c.3303G>T, XM_006719508.1:c.3303G>A, XM_006719510.5:c.3228G>T, XM_006719510.5:c.3228G>A, XM_006719510.4:c.3228G>T, XM_006719510.4:c.3228G>A, XM_006719510.3:c.3228G>T, XM_006719510.3:c.3228G>A, XM_006719510.2:c.3228G>T, XM_006719510.2:c.3228G>A, XM_006719510.1:c.3228G>T, XM_006719510.1:c.3228G>A, XM_006719505.5:c.3303G>T, XM_006719505.5:c.3303G>A, XM_006719505.4:c.3303G>T, XM_006719505.4:c.3303G>A, XM_006719505.3:c.3303G>T, XM_006719505.3:c.3303G>A, XM_006719505.2:c.3303G>T, XM_006719505.2:c.3303G>A, XM_006719505.1:c.3303G>T, XM_006719505.1:c.3303G>A, XM_006719504.5:c.3300G>T, XM_006719504.5:c.3300G>A, XM_006719504.4:c.3300G>T, XM_006719504.4:c.3300G>A, XM_006719504.3:c.3300G>T, XM_006719504.3:c.3300G>A, XM_006719504.2:c.3300G>T, XM_006719504.2:c.3300G>A, XM_006719504.1:c.3300G>T, XM_006719504.1:c.3300G>A, XM_006719512.5:c.3048G>T, XM_006719512.5:c.3048G>A, XM_006719512.4:c.3048G>T, XM_006719512.4:c.3048G>A, XM_006719512.3:c.3048G>T, XM_006719512.3:c.3048G>A, XM_006719512.2:c.3048G>T, XM_006719512.2:c.3048G>A, XM_006719512.1:c.3048G>T, XM_006719512.1:c.3048G>A, XM_006719513.5:c.3048G>T, XM_006719513.5:c.3048G>A, XM_006719513.4:c.3048G>T, XM_006719513.4:c.3048G>A, XM_006719513.3:c.3048G>T, XM_006719513.3:c.3048G>A, XM_006719513.2:c.3048G>T, XM_006719513.2:c.3048G>A, XM_006719513.1:c.3048G>T, XM_006719513.1:c.3048G>A, XM_006719507.5:c.3303G>T, XM_006719507.5:c.3303G>A, XM_006719507.4:c.3303G>T, XM_006719507.4:c.3303G>A, XM_006719507.3:c.3303G>T, XM_006719507.3:c.3303G>A, XM_006719507.2:c.3303G>T, XM_006719507.2:c.3303G>A, XM_006719507.1:c.3303G>T, XM_006719507.1:c.3303G>A, XM_006719514.5:c.3036G>T, XM_006719514.5:c.3036G>A, XM_006719514.4:c.3036G>T, XM_006719514.4:c.3036G>A, XM_006719514.3:c.3036G>T, XM_006719514.3:c.3036G>A, XM_006719514.2:c.3036G>T, XM_006719514.2:c.3036G>A, XM_006719514.1:c.3036G>T, XM_006719514.1:c.3036G>A, XM_011538571.4:c.3201G>T, XM_011538571.4:c.3201G>A, XM_011538571.3:c.3201G>T, XM_011538571.3:c.3201G>A, XM_011538571.2:c.3201G>T, XM_011538571.2:c.3201G>A, XM_011538571.1:c.3201G>T, XM_011538571.1:c.3201G>A, XM_017019652.3:c.3291G>T, XM_017019652.3:c.3291G>A, XM_017019652.2:c.3291G>T, XM_017019652.2:c.3291G>A, XM_017019652.1:c.3291G>T, XM_017019652.1:c.3291G>A, XM_024449061.2:c.2199G>T, XM_024449061.2:c.2199G>A, XM_024449061.1:c.2199G>T, XM_024449061.1:c.2199G>A, XM_024449060.2:c.2043G>T, XM_024449060.2:c.2043G>A, XM_024449060.1:c.2043G>T, XM_024449060.1:c.2043G>A, XM_024449069.2:c.810G>T, XM_024449069.2:c.810G>A, XM_024449069.1:c.810G>T, XM_024449069.1:c.810G>A, XM_024449065.2:c.888G>T, XM_024449065.2:c.888G>A, XM_024449065.1:c.888G>T, XM_024449065.1:c.888G>A, XM_047429165.1:c.2043G>T, XM_047429165.1:c.2043G>A, XM_047429166.1:c.2043G>T, XM_047429166.1:c.2043G>A, XM_047429167.1:c.2043G>T, XM_047429167.1:c.2043G>A, XM_047429168.1:c.876G>T, XM_047429168.1:c.876G>A, XM_047429169.1:c.810G>T, XM_047429169.1:c.810G>A, XM_047429170.1:c.318G>T, XM_047429170.1:c.318G>A, NP_690001.3:p.Arg1076Ser, NP_858056.2:p.Arg326Ser, NP_064525.1:p.Arg242Ser, NP_001339115.1:p.Arg1101Ser, NP_001339129.1:p.Arg327Ser, NP_001339127.1:p.Arg327Ser, NP_001339134.1:p.Arg327Ser, NP_001339124.1:p.Arg326Ser, NP_001190997.1:p.Arg302Ser, NP_001339133.1:p.Arg302Ser, NP_001339131.1:p.Arg302Ser, NP_001190998.1:p.Arg266Ser, NP_001339135.1:p.Arg266Ser, NP_001190999.1:p.Arg242Ser, NP_001339128.1:p.Arg242Ser, NP_001339132.1:p.Arg231Ser, NP_001339122.1:p.Arg245Ser, NP_001339121.1:p.Arg245Ser, NP_001339123.1:p.Arg206Ser, NP_001339130.1:p.Arg206Ser, NP_001339120.1:p.Arg185Ser, NP_001190996.1:p.Arg211Ser, NP_001190995.1:p.Arg174Ser, NP_001339137.1:p.Arg106Ser, NP_001339148.1:p.Arg107Ser, NP_001191008.1:p.Arg107Ser, NP_001190994.1:p.Arg106Ser, NP_001339151.1:p.Arg106Ser, NP_001339136.1:p.Arg82Ser, NP_001339138.1:p.Arg82Ser, NP_001191009.1:p.Arg82Ser, NP_001339150.1:p.Arg82Ser, NP_001339139.1:p.Arg57Ser, NP_001339154.1:p.Arg57Ser, NP_001339147.1:p.Arg7Ser, NP_001339141.1:p.Arg7Ser, NP_001339149.1:p.Arg7Ser, NP_001339146.1:p.Arg7Ser, NP_001339140.1:p.Arg7Ser, NP_001339153.1:p.Arg7Ser, NP_001339125.1:p.Arg326Ser, NP_001339126.1:p.Arg302Ser, NP_001339152.1:p.Arg107Ser, NP_001191010.1:p.Arg82Ser, NP_001339143.1:p.Arg7Ser, NP_001339142.1:p.Arg7Ser, NP_001339145.1:p.Arg7Ser, NP_001339117.1:p.Arg1100Ser, NP_001339116.1:p.Arg1076Ser, NP_001339114.1:p.Arg1076Ser, NP_001339119.1:p.Arg296Ser, NP_001339118.1:p.Arg295Ser, XP_005269086.1:p.Arg1072Ser, XP_006719571.1:p.Arg1101Ser, XP_006719573.1:p.Arg1076Ser, XP_006719568.1:p.Arg1101Ser, XP_006719567.1:p.Arg1100Ser, XP_006719575.1:p.Arg1016Ser, XP_006719576.1:p.Arg1016Ser, XP_006719570.1:p.Arg1101Ser, XP_006719577.1:p.Arg1012Ser, XP_011536873.1:p.Arg1067Ser, XP_016875141.1:p.Arg1097Ser, XP_024304829.1:p.Arg733Ser, XP_024304828.1:p.Arg681Ser, XP_024304837.1:p.Arg270Ser, XP_024304833.1:p.Arg296Ser, XP_047285121.1:p.Arg681Ser, XP_047285122.1:p.Arg681Ser, XP_047285123.1:p.Arg681Ser, XP_047285124.1:p.Arg292Ser, XP_047285125.1:p.Arg270Ser, XP_047285126.1:p.Arg106Ser

                            14.

                            rs1393248908 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              12:98735612 (GRCh38)
                              12:99129390 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:98735611:G:T
                              Gene:
                              APAF1 (Varview), ANKS1B (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000011/3 (TOPMED)
                              HGVS:
                              NC_000012.12:g.98735612G>T, NC_000012.11:g.99129390G>T, NG_029860.2:g.1254043C>A, NM_152788.4:c.3695C>A, NM_020140.4:c.1193C>A, NM_020140.3:c.1193C>A, NM_001352196.2:c.1445C>A, NM_001352196.1:c.1445C>A, NM_001352197.2:c.1373C>A, NM_001352197.1:c.1373C>A, NM_001352223.2:c.788C>A, NM_001352223.1:c.788C>A, NM_001204081.2:c.713C>A, NM_001204081.1:c.713C>A, NM_001352214.2:c.488C>A, NM_001352214.1:c.488C>A, NM_001352213.2:c.488C>A, NM_001352213.1:c.488C>A, NM_001352216.2:c.488C>A, NM_001352216.1:c.488C>A, NG_029094.1:g.95313G>T, XM_006719507.5:c.3770C>A, XM_006719507.4:c.3770C>A, XM_006719507.3:c.3770C>A, XM_006719507.2:c.3770C>A, XM_006719507.1:c.3770C>A, XM_006719514.5:c.3503C>A, XM_006719514.4:c.3503C>A, XM_006719514.3:c.3503C>A, XM_006719514.2:c.3503C>A, XM_006719514.1:c.3503C>A, NP_690001.3:p.Thr1232Asn, NP_064525.1:p.Thr398Asn, NP_001339125.1:p.Thr482Asn, NP_001339126.1:p.Thr458Asn, NP_001339152.1:p.Thr263Asn, NP_001191010.1:p.Thr238Asn, NP_001339143.1:p.Thr163Asn, NP_001339142.1:p.Thr163Asn, NP_001339145.1:p.Thr163Asn, XP_006719570.1:p.Thr1257Asn, XP_006719577.1:p.Thr1168Asn

                              15.

                              rs1387614349 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                12:98751488 (GRCh38)
                                12:99145266 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:98751487:T:C
                                Gene:
                                ANKS1B (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000012.12:g.98751488T>C, NC_000012.11:g.99145266T>C, NG_029860.2:g.1238167A>G, NM_152788.4:c.3539A>G, NM_181670.4:c.1289A>G, NM_181670.3:c.1289A>G, NM_020140.4:c.1037A>G, NM_020140.3:c.1037A>G, NM_001352186.2:c.3614A>G, NM_001352186.1:c.3614A>G, NM_001352200.2:c.1292A>G, NM_001352200.1:c.1292A>G, NM_001352198.2:c.1292A>G, NM_001352198.1:c.1292A>G, NM_001352205.2:c.1292A>G, NM_001352205.1:c.1292A>G, NM_001352195.2:c.1289A>G, NM_001352195.1:c.1289A>G, NM_001204068.2:c.1217A>G, NM_001204068.1:c.1217A>G, NM_001352204.2:c.1217A>G, NM_001352204.1:c.1217A>G, NM_001352202.2:c.1217A>G, NM_001352202.1:c.1217A>G, NM_001204069.2:c.1109A>G, NM_001204069.1:c.1109A>G, NM_001352206.2:c.1109A>G, NM_001352206.1:c.1109A>G, NM_001204070.2:c.1037A>G, NM_001204070.1:c.1037A>G, NM_001352199.2:c.1037A>G, NM_001352199.1:c.1037A>G, NM_001352203.2:c.1004A>G, NM_001352203.1:c.1004A>G, NM_001352193.2:c.1046A>G, NM_001352193.1:c.1046A>G, NM_001352192.2:c.1046A>G, NM_001352192.1:c.1046A>G, NM_001352194.2:c.929A>G, NM_001352194.1:c.929A>G, NM_001352201.2:c.929A>G, NM_001352201.1:c.929A>G, NM_001352191.2:c.866A>G, NM_001352191.1:c.866A>G, NM_001204067.2:c.944A>G, NM_001204067.1:c.944A>G, NM_001204066.2:c.833A>G, NM_001204066.1:c.833A>G, NM_001352208.2:c.629A>G, NM_001352208.1:c.629A>G, NM_001352219.2:c.632A>G, NM_001352219.1:c.632A>G, NM_001204079.2:c.632A>G, NM_001204079.1:c.632A>G, NM_001204065.2:c.629A>G, NM_001204065.1:c.629A>G, NM_001352222.2:c.629A>G, NM_001352222.1:c.629A>G, NM_001352207.2:c.557A>G, NM_001352207.1:c.557A>G, NM_001352209.2:c.557A>G, NM_001352209.1:c.557A>G, NM_001204080.2:c.557A>G, NM_001204080.1:c.557A>G, NM_001352221.2:c.557A>G, NM_001352221.1:c.557A>G, NM_001352210.2:c.482A>G, NM_001352210.1:c.482A>G, NM_001352225.2:c.482A>G, NM_001352225.1:c.482A>G, NM_001352218.2:c.332A>G, NM_001352218.1:c.332A>G, NM_001352212.2:c.332A>G, NM_001352212.1:c.332A>G, NM_001352220.2:c.332A>G, NM_001352220.1:c.332A>G, NM_001352217.2:c.332A>G, NM_001352217.1:c.332A>G, NM_001352211.2:c.332A>G, NM_001352211.1:c.332A>G, NM_001352224.2:c.332A>G, NM_001352224.1:c.332A>G, NM_001352196.2:c.1289A>G, NM_001352196.1:c.1289A>G, NM_001352197.2:c.1217A>G, NM_001352197.1:c.1217A>G, NM_001352223.2:c.632A>G, NM_001352223.1:c.632A>G, NM_001204081.2:c.557A>G, NM_001204081.1:c.557A>G, NM_001352214.2:c.332A>G, NM_001352214.1:c.332A>G, NM_001352213.2:c.332A>G, NM_001352213.1:c.332A>G, NM_001352216.2:c.332A>G, NM_001352216.1:c.332A>G, NM_001352188.1:c.3611A>G, NM_001352187.1:c.3539A>G, NM_001352185.1:c.3539A>G, NM_001352190.1:c.1199A>G, NM_001352189.1:c.1196A>G, XM_005269029.6:c.3527A>G, XM_005269029.5:c.3527A>G, XM_005269029.4:c.3527A>G, XM_005269029.3:c.3527A>G, XM_005269029.2:c.3527A>G, XM_005269029.1:c.3527A>G, XM_006719508.5:c.3614A>G, XM_006719508.4:c.3614A>G, XM_006719508.3:c.3614A>G, XM_006719508.2:c.3614A>G, XM_006719508.1:c.3614A>G, XM_006719510.5:c.3539A>G, XM_006719510.4:c.3539A>G, XM_006719510.3:c.3539A>G, XM_006719510.2:c.3539A>G, XM_006719510.1:c.3539A>G, XM_006719505.5:c.3614A>G, XM_006719505.4:c.3614A>G, XM_006719505.3:c.3614A>G, XM_006719505.2:c.3614A>G, XM_006719505.1:c.3614A>G, XM_006719504.5:c.3611A>G, XM_006719504.4:c.3611A>G, XM_006719504.3:c.3611A>G, XM_006719504.2:c.3611A>G, XM_006719504.1:c.3611A>G, XM_006719512.5:c.3359A>G, XM_006719512.4:c.3359A>G, XM_006719512.3:c.3359A>G, XM_006719512.2:c.3359A>G, XM_006719512.1:c.3359A>G, XM_006719513.5:c.3359A>G, XM_006719513.4:c.3359A>G, XM_006719513.3:c.3359A>G, XM_006719513.2:c.3359A>G, XM_006719513.1:c.3359A>G, XM_006719507.5:c.3614A>G, XM_006719507.4:c.3614A>G, XM_006719507.3:c.3614A>G, XM_006719507.2:c.3614A>G, XM_006719507.1:c.3614A>G, XM_006719514.5:c.3347A>G, XM_006719514.4:c.3347A>G, XM_006719514.3:c.3347A>G, XM_006719514.2:c.3347A>G, XM_006719514.1:c.3347A>G, XM_011538571.4:c.3512A>G, XM_011538571.3:c.3512A>G, XM_011538571.2:c.3512A>G, XM_011538571.1:c.3512A>G, XM_017019652.3:c.3602A>G, XM_017019652.2:c.3602A>G, XM_017019652.1:c.3602A>G, XM_024449061.2:c.2510A>G, XM_024449061.1:c.2510A>G, XM_024449060.2:c.2354A>G, XM_024449060.1:c.2354A>G, XM_024449069.2:c.1121A>G, XM_024449069.1:c.1121A>G, XM_024449065.2:c.1199A>G, XM_024449065.1:c.1199A>G, XM_047429165.1:c.2354A>G, XM_047429166.1:c.2354A>G, XM_047429167.1:c.2354A>G, XM_047429168.1:c.1187A>G, XM_047429169.1:c.1121A>G, XM_047429170.1:c.629A>G, NP_690001.3:p.Gln1180Arg, NP_858056.2:p.Gln430Arg, NP_064525.1:p.Gln346Arg, NP_001339115.1:p.Gln1205Arg, NP_001339129.1:p.Gln431Arg, NP_001339127.1:p.Gln431Arg, NP_001339134.1:p.Gln431Arg, NP_001339124.1:p.Gln430Arg, NP_001190997.1:p.Gln406Arg, NP_001339133.1:p.Gln406Arg, NP_001339131.1:p.Gln406Arg, NP_001190998.1:p.Gln370Arg, NP_001339135.1:p.Gln370Arg, NP_001190999.1:p.Gln346Arg, NP_001339128.1:p.Gln346Arg, NP_001339132.1:p.Gln335Arg, NP_001339122.1:p.Gln349Arg, NP_001339121.1:p.Gln349Arg, NP_001339123.1:p.Gln310Arg, NP_001339130.1:p.Gln310Arg, NP_001339120.1:p.Gln289Arg, NP_001190996.1:p.Gln315Arg, NP_001190995.1:p.Gln278Arg, NP_001339137.1:p.Gln210Arg, NP_001339148.1:p.Gln211Arg, NP_001191008.1:p.Gln211Arg, NP_001190994.1:p.Gln210Arg, NP_001339151.1:p.Gln210Arg, NP_001339136.1:p.Gln186Arg, NP_001339138.1:p.Gln186Arg, NP_001191009.1:p.Gln186Arg, NP_001339150.1:p.Gln186Arg, NP_001339139.1:p.Gln161Arg, NP_001339154.1:p.Gln161Arg, NP_001339147.1:p.Gln111Arg, NP_001339141.1:p.Gln111Arg, NP_001339149.1:p.Gln111Arg, NP_001339146.1:p.Gln111Arg, NP_001339140.1:p.Gln111Arg, NP_001339153.1:p.Gln111Arg, NP_001339125.1:p.Gln430Arg, NP_001339126.1:p.Gln406Arg, NP_001339152.1:p.Gln211Arg, NP_001191010.1:p.Gln186Arg, NP_001339143.1:p.Gln111Arg, NP_001339142.1:p.Gln111Arg, NP_001339145.1:p.Gln111Arg, NP_001339117.1:p.Gln1204Arg, NP_001339116.1:p.Gln1180Arg, NP_001339114.1:p.Gln1180Arg, NP_001339119.1:p.Gln400Arg, NP_001339118.1:p.Gln399Arg, XP_005269086.1:p.Gln1176Arg, XP_006719571.1:p.Gln1205Arg, XP_006719573.1:p.Gln1180Arg, XP_006719568.1:p.Gln1205Arg, XP_006719567.1:p.Gln1204Arg, XP_006719575.1:p.Gln1120Arg, XP_006719576.1:p.Gln1120Arg, XP_006719570.1:p.Gln1205Arg, XP_006719577.1:p.Gln1116Arg, XP_011536873.1:p.Gln1171Arg, XP_016875141.1:p.Gln1201Arg, XP_024304829.1:p.Gln837Arg, XP_024304828.1:p.Gln785Arg, XP_024304837.1:p.Gln374Arg, XP_024304833.1:p.Gln400Arg, XP_047285121.1:p.Gln785Arg, XP_047285122.1:p.Gln785Arg, XP_047285123.1:p.Gln785Arg, XP_047285124.1:p.Gln396Arg, XP_047285125.1:p.Gln374Arg, XP_047285126.1:p.Gln210Arg

                                16.

                                rs1380321151 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  12:98735602 (GRCh38)
                                  12:99129380 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:98735601:T:G
                                  Gene:
                                  APAF1 (Varview), ANKS1B (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,500B_downstream_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000012.12:g.98735602T>G, NC_000012.11:g.99129380T>G, NG_029860.2:g.1254053A>C, NM_152788.4:c.3705A>C, NM_020140.4:c.1203A>C, NM_020140.3:c.1203A>C, NM_001352196.2:c.1455A>C, NM_001352196.1:c.1455A>C, NM_001352197.2:c.1383A>C, NM_001352197.1:c.1383A>C, NM_001352223.2:c.798A>C, NM_001352223.1:c.798A>C, NM_001204081.2:c.723A>C, NM_001204081.1:c.723A>C, NM_001352214.2:c.498A>C, NM_001352214.1:c.498A>C, NM_001352213.2:c.498A>C, NM_001352213.1:c.498A>C, NM_001352216.2:c.498A>C, NM_001352216.1:c.498A>C, NG_029094.1:g.95303T>G, XM_006719507.5:c.3780A>C, XM_006719507.4:c.3780A>C, XM_006719507.3:c.3780A>C, XM_006719507.2:c.3780A>C, XM_006719507.1:c.3780A>C, XM_006719514.5:c.3513A>C, XM_006719514.4:c.3513A>C, XM_006719514.3:c.3513A>C, XM_006719514.2:c.3513A>C, XM_006719514.1:c.3513A>C, NP_690001.3:p.Glu1235Asp, NP_064525.1:p.Glu401Asp, NP_001339125.1:p.Glu485Asp, NP_001339126.1:p.Glu461Asp, NP_001339152.1:p.Glu266Asp, NP_001191010.1:p.Glu241Asp, NP_001339143.1:p.Glu166Asp, NP_001339142.1:p.Glu166Asp, NP_001339145.1:p.Glu166Asp, XP_006719570.1:p.Glu1260Asp, XP_006719577.1:p.Glu1171Asp

                                  17.

                                  rs1379355499 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    12:98773097 (GRCh38)
                                    12:99166875 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:98773096:G:A
                                    Gene:
                                    ANKS1B (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000012.12:g.98773097G>A, NC_000012.11:g.99166875G>A, NG_029860.2:g.1216558C>T, NM_152788.4:c.3449C>T, NM_181670.4:c.1199C>T, NM_181670.3:c.1199C>T, NM_020140.4:c.947C>T, NM_020140.3:c.947C>T, NM_001352186.2:c.3524C>T, NM_001352186.1:c.3524C>T, NM_001352200.2:c.1202C>T, NM_001352200.1:c.1202C>T, NM_001352198.2:c.1202C>T, NM_001352198.1:c.1202C>T, NM_001352205.2:c.1202C>T, NM_001352205.1:c.1202C>T, NM_001352195.2:c.1199C>T, NM_001352195.1:c.1199C>T, NM_001204068.2:c.1127C>T, NM_001204068.1:c.1127C>T, NM_001352204.2:c.1127C>T, NM_001352204.1:c.1127C>T, NM_001352202.2:c.1127C>T, NM_001352202.1:c.1127C>T, NM_001204069.2:c.1019C>T, NM_001204069.1:c.1019C>T, NM_001352206.2:c.1019C>T, NM_001352206.1:c.1019C>T, NM_001204070.2:c.947C>T, NM_001204070.1:c.947C>T, NM_001352199.2:c.947C>T, NM_001352199.1:c.947C>T, NM_001352203.2:c.914C>T, NM_001352203.1:c.914C>T, NM_001352193.2:c.956C>T, NM_001352193.1:c.956C>T, NM_001352192.2:c.956C>T, NM_001352192.1:c.956C>T, NM_001352194.2:c.839C>T, NM_001352194.1:c.839C>T, NM_001352201.2:c.839C>T, NM_001352201.1:c.839C>T, NM_001352191.2:c.776C>T, NM_001352191.1:c.776C>T, NM_001204067.2:c.854C>T, NM_001204067.1:c.854C>T, NM_001204066.2:c.743C>T, NM_001204066.1:c.743C>T, NM_001352208.2:c.539C>T, NM_001352208.1:c.539C>T, NM_001352219.2:c.542C>T, NM_001352219.1:c.542C>T, NM_001204079.2:c.542C>T, NM_001204079.1:c.542C>T, NM_001204065.2:c.539C>T, NM_001204065.1:c.539C>T, NM_001352222.2:c.539C>T, NM_001352222.1:c.539C>T, NM_001352207.2:c.467C>T, NM_001352207.1:c.467C>T, NM_001352209.2:c.467C>T, NM_001352209.1:c.467C>T, NM_001204080.2:c.467C>T, NM_001204080.1:c.467C>T, NM_001352221.2:c.467C>T, NM_001352221.1:c.467C>T, NM_001352210.2:c.392C>T, NM_001352210.1:c.392C>T, NM_001352225.2:c.392C>T, NM_001352225.1:c.392C>T, NM_001352218.2:c.242C>T, NM_001352218.1:c.242C>T, NM_001352212.2:c.242C>T, NM_001352212.1:c.242C>T, NM_001352220.2:c.242C>T, NM_001352220.1:c.242C>T, NM_001352217.2:c.242C>T, NM_001352217.1:c.242C>T, NM_001352211.2:c.242C>T, NM_001352211.1:c.242C>T, NM_001352224.2:c.242C>T, NM_001352224.1:c.242C>T, NM_001352196.2:c.1199C>T, NM_001352196.1:c.1199C>T, NM_001352197.2:c.1127C>T, NM_001352197.1:c.1127C>T, NM_001352223.2:c.542C>T, NM_001352223.1:c.542C>T, NM_001204081.2:c.467C>T, NM_001204081.1:c.467C>T, NM_001352214.2:c.242C>T, NM_001352214.1:c.242C>T, NM_001352213.2:c.242C>T, NM_001352213.1:c.242C>T, NM_001352216.2:c.242C>T, NM_001352216.1:c.242C>T, NM_001352188.1:c.3521C>T, NM_001352187.1:c.3449C>T, NM_001352185.1:c.3449C>T, NM_001352190.1:c.1109C>T, NM_001352189.1:c.1106C>T, XM_005269029.6:c.3437C>T, XM_005269029.5:c.3437C>T, XM_005269029.4:c.3437C>T, XM_005269029.3:c.3437C>T, XM_005269029.2:c.3437C>T, XM_005269029.1:c.3437C>T, XM_006719508.5:c.3524C>T, XM_006719508.4:c.3524C>T, XM_006719508.3:c.3524C>T, XM_006719508.2:c.3524C>T, XM_006719508.1:c.3524C>T, XM_006719510.5:c.3449C>T, XM_006719510.4:c.3449C>T, XM_006719510.3:c.3449C>T, XM_006719510.2:c.3449C>T, XM_006719510.1:c.3449C>T, XM_006719505.5:c.3524C>T, XM_006719505.4:c.3524C>T, XM_006719505.3:c.3524C>T, XM_006719505.2:c.3524C>T, XM_006719505.1:c.3524C>T, XM_006719504.5:c.3521C>T, XM_006719504.4:c.3521C>T, XM_006719504.3:c.3521C>T, XM_006719504.2:c.3521C>T, XM_006719504.1:c.3521C>T, XM_006719512.5:c.3269C>T, XM_006719512.4:c.3269C>T, XM_006719512.3:c.3269C>T, XM_006719512.2:c.3269C>T, XM_006719512.1:c.3269C>T, XM_006719513.5:c.3269C>T, XM_006719513.4:c.3269C>T, XM_006719513.3:c.3269C>T, XM_006719513.2:c.3269C>T, XM_006719513.1:c.3269C>T, XM_006719507.5:c.3524C>T, XM_006719507.4:c.3524C>T, XM_006719507.3:c.3524C>T, XM_006719507.2:c.3524C>T, XM_006719507.1:c.3524C>T, XM_006719514.5:c.3257C>T, XM_006719514.4:c.3257C>T, XM_006719514.3:c.3257C>T, XM_006719514.2:c.3257C>T, XM_006719514.1:c.3257C>T, XM_011538571.4:c.3422C>T, XM_011538571.3:c.3422C>T, XM_011538571.2:c.3422C>T, XM_011538571.1:c.3422C>T, XM_017019652.3:c.3512C>T, XM_017019652.2:c.3512C>T, XM_017019652.1:c.3512C>T, XM_024449061.2:c.2420C>T, XM_024449061.1:c.2420C>T, XM_024449060.2:c.2264C>T, XM_024449060.1:c.2264C>T, XM_024449069.2:c.1031C>T, XM_024449069.1:c.1031C>T, XM_024449065.2:c.1109C>T, XM_024449065.1:c.1109C>T, XM_047429165.1:c.2264C>T, XM_047429166.1:c.2264C>T, XM_047429167.1:c.2264C>T, XM_047429168.1:c.1097C>T, XM_047429169.1:c.1031C>T, XM_047429170.1:c.539C>T, NP_690001.3:p.Thr1150Ile, NP_858056.2:p.Thr400Ile, NP_064525.1:p.Thr316Ile, NP_001339115.1:p.Thr1175Ile, NP_001339129.1:p.Thr401Ile, NP_001339127.1:p.Thr401Ile, NP_001339134.1:p.Thr401Ile, NP_001339124.1:p.Thr400Ile, NP_001190997.1:p.Thr376Ile, NP_001339133.1:p.Thr376Ile, NP_001339131.1:p.Thr376Ile, NP_001190998.1:p.Thr340Ile, NP_001339135.1:p.Thr340Ile, NP_001190999.1:p.Thr316Ile, NP_001339128.1:p.Thr316Ile, NP_001339132.1:p.Thr305Ile, NP_001339122.1:p.Thr319Ile, NP_001339121.1:p.Thr319Ile, NP_001339123.1:p.Thr280Ile, NP_001339130.1:p.Thr280Ile, NP_001339120.1:p.Thr259Ile, NP_001190996.1:p.Thr285Ile, NP_001190995.1:p.Thr248Ile, NP_001339137.1:p.Thr180Ile, NP_001339148.1:p.Thr181Ile, NP_001191008.1:p.Thr181Ile, NP_001190994.1:p.Thr180Ile, NP_001339151.1:p.Thr180Ile, NP_001339136.1:p.Thr156Ile, NP_001339138.1:p.Thr156Ile, NP_001191009.1:p.Thr156Ile, NP_001339150.1:p.Thr156Ile, NP_001339139.1:p.Thr131Ile, NP_001339154.1:p.Thr131Ile, NP_001339147.1:p.Thr81Ile, NP_001339141.1:p.Thr81Ile, NP_001339149.1:p.Thr81Ile, NP_001339146.1:p.Thr81Ile, NP_001339140.1:p.Thr81Ile, NP_001339153.1:p.Thr81Ile, NP_001339125.1:p.Thr400Ile, NP_001339126.1:p.Thr376Ile, NP_001339152.1:p.Thr181Ile, NP_001191010.1:p.Thr156Ile, NP_001339143.1:p.Thr81Ile, NP_001339142.1:p.Thr81Ile, NP_001339145.1:p.Thr81Ile, NP_001339117.1:p.Thr1174Ile, NP_001339116.1:p.Thr1150Ile, NP_001339114.1:p.Thr1150Ile, NP_001339119.1:p.Thr370Ile, NP_001339118.1:p.Thr369Ile, XP_005269086.1:p.Thr1146Ile, XP_006719571.1:p.Thr1175Ile, XP_006719573.1:p.Thr1150Ile, XP_006719568.1:p.Thr1175Ile, XP_006719567.1:p.Thr1174Ile, XP_006719575.1:p.Thr1090Ile, XP_006719576.1:p.Thr1090Ile, XP_006719570.1:p.Thr1175Ile, XP_006719577.1:p.Thr1086Ile, XP_011536873.1:p.Thr1141Ile, XP_016875141.1:p.Thr1171Ile, XP_024304829.1:p.Thr807Ile, XP_024304828.1:p.Thr755Ile, XP_024304837.1:p.Thr344Ile, XP_024304833.1:p.Thr370Ile, XP_047285121.1:p.Thr755Ile, XP_047285122.1:p.Thr755Ile, XP_047285123.1:p.Thr755Ile, XP_047285124.1:p.Thr366Ile, XP_047285125.1:p.Thr344Ile, XP_047285126.1:p.Thr180Ile

                                    18.

                                    rs1367006691 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      12:98798971 (GRCh38)
                                      12:99192749 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:98798970:C:A
                                      Gene:
                                      ANKS1B (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000011/3 (TOPMED)
                                      HGVS:
                                      NC_000012.12:g.98798971C>A, NC_000012.11:g.99192749C>A, NG_029860.2:g.1190684G>T, NM_152788.4:c.3230G>T, NM_181670.4:c.980G>T, NM_181670.3:c.980G>T, NM_020140.4:c.728G>T, NM_020140.3:c.728G>T, NM_001352186.2:c.3305G>T, NM_001352186.1:c.3305G>T, NM_001352200.2:c.983G>T, NM_001352200.1:c.983G>T, NM_001352198.2:c.983G>T, NM_001352198.1:c.983G>T, NM_001352205.2:c.983G>T, NM_001352205.1:c.983G>T, NM_001352195.2:c.980G>T, NM_001352195.1:c.980G>T, NM_001204068.2:c.908G>T, NM_001204068.1:c.908G>T, NM_001352204.2:c.908G>T, NM_001352204.1:c.908G>T, NM_001352202.2:c.908G>T, NM_001352202.1:c.908G>T, NM_001204069.2:c.800G>T, NM_001204069.1:c.800G>T, NM_001352206.2:c.800G>T, NM_001352206.1:c.800G>T, NM_001204070.2:c.728G>T, NM_001204070.1:c.728G>T, NM_001352199.2:c.728G>T, NM_001352199.1:c.728G>T, NM_001352203.2:c.695G>T, NM_001352203.1:c.695G>T, NM_001352193.2:c.737G>T, NM_001352193.1:c.737G>T, NM_001352192.2:c.737G>T, NM_001352192.1:c.737G>T, NM_001352194.2:c.620G>T, NM_001352194.1:c.620G>T, NM_001352201.2:c.620G>T, NM_001352201.1:c.620G>T, NM_001352191.2:c.557G>T, NM_001352191.1:c.557G>T, NM_001204067.2:c.635G>T, NM_001204067.1:c.635G>T, NM_001204066.2:c.524G>T, NM_001204066.1:c.524G>T, NM_001352208.2:c.320G>T, NM_001352208.1:c.320G>T, NM_001352219.2:c.323G>T, NM_001352219.1:c.323G>T, NM_001204079.2:c.323G>T, NM_001204079.1:c.323G>T, NM_001204065.2:c.320G>T, NM_001204065.1:c.320G>T, NM_001352222.2:c.320G>T, NM_001352222.1:c.320G>T, NM_001352207.2:c.248G>T, NM_001352207.1:c.248G>T, NM_001352209.2:c.248G>T, NM_001352209.1:c.248G>T, NM_001204080.2:c.248G>T, NM_001204080.1:c.248G>T, NM_001352221.2:c.248G>T, NM_001352221.1:c.248G>T, NM_001352210.2:c.173G>T, NM_001352210.1:c.173G>T, NM_001352225.2:c.173G>T, NM_001352225.1:c.173G>T, NM_001352218.2:c.23G>T, NM_001352218.1:c.23G>T, NM_001352212.2:c.23G>T, NM_001352212.1:c.23G>T, NM_001352220.2:c.23G>T, NM_001352220.1:c.23G>T, NM_001352217.2:c.23G>T, NM_001352217.1:c.23G>T, NM_001352211.2:c.23G>T, NM_001352211.1:c.23G>T, NM_001352224.2:c.23G>T, NM_001352224.1:c.23G>T, NM_001352196.2:c.980G>T, NM_001352196.1:c.980G>T, NM_001352197.2:c.908G>T, NM_001352197.1:c.908G>T, NM_001352223.2:c.323G>T, NM_001352223.1:c.323G>T, NM_001204081.2:c.248G>T, NM_001204081.1:c.248G>T, NM_001352214.2:c.23G>T, NM_001352214.1:c.23G>T, NM_001352213.2:c.23G>T, NM_001352213.1:c.23G>T, NM_001352216.2:c.23G>T, NM_001352216.1:c.23G>T, NM_001352188.1:c.3302G>T, NM_001352187.1:c.3230G>T, NM_001352185.1:c.3230G>T, NM_001352190.1:c.890G>T, NM_001352189.1:c.887G>T, XM_005269029.6:c.3218G>T, XM_005269029.5:c.3218G>T, XM_005269029.4:c.3218G>T, XM_005269029.3:c.3218G>T, XM_005269029.2:c.3218G>T, XM_005269029.1:c.3218G>T, XM_006719508.5:c.3305G>T, XM_006719508.4:c.3305G>T, XM_006719508.3:c.3305G>T, XM_006719508.2:c.3305G>T, XM_006719508.1:c.3305G>T, XM_006719510.5:c.3230G>T, XM_006719510.4:c.3230G>T, XM_006719510.3:c.3230G>T, XM_006719510.2:c.3230G>T, XM_006719510.1:c.3230G>T, XM_006719505.5:c.3305G>T, XM_006719505.4:c.3305G>T, XM_006719505.3:c.3305G>T, XM_006719505.2:c.3305G>T, XM_006719505.1:c.3305G>T, XM_006719504.5:c.3302G>T, XM_006719504.4:c.3302G>T, XM_006719504.3:c.3302G>T, XM_006719504.2:c.3302G>T, XM_006719504.1:c.3302G>T, XM_006719512.5:c.3050G>T, XM_006719512.4:c.3050G>T, XM_006719512.3:c.3050G>T, XM_006719512.2:c.3050G>T, XM_006719512.1:c.3050G>T, XM_006719513.5:c.3050G>T, XM_006719513.4:c.3050G>T, XM_006719513.3:c.3050G>T, XM_006719513.2:c.3050G>T, XM_006719513.1:c.3050G>T, XM_006719507.5:c.3305G>T, XM_006719507.4:c.3305G>T, XM_006719507.3:c.3305G>T, XM_006719507.2:c.3305G>T, XM_006719507.1:c.3305G>T, XM_006719514.5:c.3038G>T, XM_006719514.4:c.3038G>T, XM_006719514.3:c.3038G>T, XM_006719514.2:c.3038G>T, XM_006719514.1:c.3038G>T, XM_011538571.4:c.3203G>T, XM_011538571.3:c.3203G>T, XM_011538571.2:c.3203G>T, XM_011538571.1:c.3203G>T, XM_017019652.3:c.3293G>T, XM_017019652.2:c.3293G>T, XM_017019652.1:c.3293G>T, XM_024449061.2:c.2201G>T, XM_024449061.1:c.2201G>T, XM_024449060.2:c.2045G>T, XM_024449060.1:c.2045G>T, XM_024449069.2:c.812G>T, XM_024449069.1:c.812G>T, XM_024449065.2:c.890G>T, XM_024449065.1:c.890G>T, XM_047429165.1:c.2045G>T, XM_047429166.1:c.2045G>T, XM_047429167.1:c.2045G>T, XM_047429168.1:c.878G>T, XM_047429169.1:c.812G>T, XM_047429170.1:c.320G>T, NP_690001.3:p.Gly1077Val, NP_858056.2:p.Gly327Val, NP_064525.1:p.Gly243Val, NP_001339115.1:p.Gly1102Val, NP_001339129.1:p.Gly328Val, NP_001339127.1:p.Gly328Val, NP_001339134.1:p.Gly328Val, NP_001339124.1:p.Gly327Val, NP_001190997.1:p.Gly303Val, NP_001339133.1:p.Gly303Val, NP_001339131.1:p.Gly303Val, NP_001190998.1:p.Gly267Val, NP_001339135.1:p.Gly267Val, NP_001190999.1:p.Gly243Val, NP_001339128.1:p.Gly243Val, NP_001339132.1:p.Gly232Val, NP_001339122.1:p.Gly246Val, NP_001339121.1:p.Gly246Val, NP_001339123.1:p.Gly207Val, NP_001339130.1:p.Gly207Val, NP_001339120.1:p.Gly186Val, NP_001190996.1:p.Gly212Val, NP_001190995.1:p.Gly175Val, NP_001339137.1:p.Gly107Val, NP_001339148.1:p.Gly108Val, NP_001191008.1:p.Gly108Val, NP_001190994.1:p.Gly107Val, NP_001339151.1:p.Gly107Val, NP_001339136.1:p.Gly83Val, NP_001339138.1:p.Gly83Val, NP_001191009.1:p.Gly83Val, NP_001339150.1:p.Gly83Val, NP_001339139.1:p.Gly58Val, NP_001339154.1:p.Gly58Val, NP_001339147.1:p.Gly8Val, NP_001339141.1:p.Gly8Val, NP_001339149.1:p.Gly8Val, NP_001339146.1:p.Gly8Val, NP_001339140.1:p.Gly8Val, NP_001339153.1:p.Gly8Val, NP_001339125.1:p.Gly327Val, NP_001339126.1:p.Gly303Val, NP_001339152.1:p.Gly108Val, NP_001191010.1:p.Gly83Val, NP_001339143.1:p.Gly8Val, NP_001339142.1:p.Gly8Val, NP_001339145.1:p.Gly8Val, NP_001339117.1:p.Gly1101Val, NP_001339116.1:p.Gly1077Val, NP_001339114.1:p.Gly1077Val, NP_001339119.1:p.Gly297Val, NP_001339118.1:p.Gly296Val, XP_005269086.1:p.Gly1073Val, XP_006719571.1:p.Gly1102Val, XP_006719573.1:p.Gly1077Val, XP_006719568.1:p.Gly1102Val, XP_006719567.1:p.Gly1101Val, XP_006719575.1:p.Gly1017Val, XP_006719576.1:p.Gly1017Val, XP_006719570.1:p.Gly1102Val, XP_006719577.1:p.Gly1013Val, XP_011536873.1:p.Gly1068Val, XP_016875141.1:p.Gly1098Val, XP_024304829.1:p.Gly734Val, XP_024304828.1:p.Gly682Val, XP_024304837.1:p.Gly271Val, XP_024304833.1:p.Gly297Val, XP_047285121.1:p.Gly682Val, XP_047285122.1:p.Gly682Val, XP_047285123.1:p.Gly682Val, XP_047285124.1:p.Gly293Val, XP_047285125.1:p.Gly271Val, XP_047285126.1:p.Gly107Val

                                      19.

                                      rs1365294836 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        12:98751513 (GRCh38)
                                        12:99145291 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:98751512:A:G
                                        Gene:
                                        ANKS1B (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000012.12:g.98751513A>G, NC_000012.11:g.99145291A>G, NG_029860.2:g.1238142T>C, NM_152788.4:c.3514T>C, NM_181670.4:c.1264T>C, NM_181670.3:c.1264T>C, NM_020140.4:c.1012T>C, NM_020140.3:c.1012T>C, NM_001352186.2:c.3589T>C, NM_001352186.1:c.3589T>C, NM_001352200.2:c.1267T>C, NM_001352200.1:c.1267T>C, NM_001352198.2:c.1267T>C, NM_001352198.1:c.1267T>C, NM_001352205.2:c.1267T>C, NM_001352205.1:c.1267T>C, NM_001352195.2:c.1264T>C, NM_001352195.1:c.1264T>C, NM_001204068.2:c.1192T>C, NM_001204068.1:c.1192T>C, NM_001352204.2:c.1192T>C, NM_001352204.1:c.1192T>C, NM_001352202.2:c.1192T>C, NM_001352202.1:c.1192T>C, NM_001204069.2:c.1084T>C, NM_001204069.1:c.1084T>C, NM_001352206.2:c.1084T>C, NM_001352206.1:c.1084T>C, NM_001204070.2:c.1012T>C, NM_001204070.1:c.1012T>C, NM_001352199.2:c.1012T>C, NM_001352199.1:c.1012T>C, NM_001352203.2:c.979T>C, NM_001352203.1:c.979T>C, NM_001352193.2:c.1021T>C, NM_001352193.1:c.1021T>C, NM_001352192.2:c.1021T>C, NM_001352192.1:c.1021T>C, NM_001352194.2:c.904T>C, NM_001352194.1:c.904T>C, NM_001352201.2:c.904T>C, NM_001352201.1:c.904T>C, NM_001352191.2:c.841T>C, NM_001352191.1:c.841T>C, NM_001204067.2:c.919T>C, NM_001204067.1:c.919T>C, NM_001204066.2:c.808T>C, NM_001204066.1:c.808T>C, NM_001352208.2:c.604T>C, NM_001352208.1:c.604T>C, NM_001352219.2:c.607T>C, NM_001352219.1:c.607T>C, NM_001204079.2:c.607T>C, NM_001204079.1:c.607T>C, NM_001204065.2:c.604T>C, NM_001204065.1:c.604T>C, NM_001352222.2:c.604T>C, NM_001352222.1:c.604T>C, NM_001352207.2:c.532T>C, NM_001352207.1:c.532T>C, NM_001352209.2:c.532T>C, NM_001352209.1:c.532T>C, NM_001204080.2:c.532T>C, NM_001204080.1:c.532T>C, NM_001352221.2:c.532T>C, NM_001352221.1:c.532T>C, NM_001352210.2:c.457T>C, NM_001352210.1:c.457T>C, NM_001352225.2:c.457T>C, NM_001352225.1:c.457T>C, NM_001352218.2:c.307T>C, NM_001352218.1:c.307T>C, NM_001352212.2:c.307T>C, NM_001352212.1:c.307T>C, NM_001352220.2:c.307T>C, NM_001352220.1:c.307T>C, NM_001352217.2:c.307T>C, NM_001352217.1:c.307T>C, NM_001352211.2:c.307T>C, NM_001352211.1:c.307T>C, NM_001352224.2:c.307T>C, NM_001352224.1:c.307T>C, NM_001352196.2:c.1264T>C, NM_001352196.1:c.1264T>C, NM_001352197.2:c.1192T>C, NM_001352197.1:c.1192T>C, NM_001352223.2:c.607T>C, NM_001352223.1:c.607T>C, NM_001204081.2:c.532T>C, NM_001204081.1:c.532T>C, NM_001352214.2:c.307T>C, NM_001352214.1:c.307T>C, NM_001352213.2:c.307T>C, NM_001352213.1:c.307T>C, NM_001352216.2:c.307T>C, NM_001352216.1:c.307T>C, NM_001352188.1:c.3586T>C, NM_001352187.1:c.3514T>C, NM_001352185.1:c.3514T>C, NM_001352190.1:c.1174T>C, NM_001352189.1:c.1171T>C, XM_005269029.6:c.3502T>C, XM_005269029.5:c.3502T>C, XM_005269029.4:c.3502T>C, XM_005269029.3:c.3502T>C, XM_005269029.2:c.3502T>C, XM_005269029.1:c.3502T>C, XM_006719508.5:c.3589T>C, XM_006719508.4:c.3589T>C, XM_006719508.3:c.3589T>C, XM_006719508.2:c.3589T>C, XM_006719508.1:c.3589T>C, XM_006719510.5:c.3514T>C, XM_006719510.4:c.3514T>C, XM_006719510.3:c.3514T>C, XM_006719510.2:c.3514T>C, XM_006719510.1:c.3514T>C, XM_006719505.5:c.3589T>C, XM_006719505.4:c.3589T>C, XM_006719505.3:c.3589T>C, XM_006719505.2:c.3589T>C, XM_006719505.1:c.3589T>C, XM_006719504.5:c.3586T>C, XM_006719504.4:c.3586T>C, XM_006719504.3:c.3586T>C, XM_006719504.2:c.3586T>C, XM_006719504.1:c.3586T>C, XM_006719512.5:c.3334T>C, XM_006719512.4:c.3334T>C, XM_006719512.3:c.3334T>C, XM_006719512.2:c.3334T>C, XM_006719512.1:c.3334T>C, XM_006719513.5:c.3334T>C, XM_006719513.4:c.3334T>C, XM_006719513.3:c.3334T>C, XM_006719513.2:c.3334T>C, XM_006719513.1:c.3334T>C, XM_006719507.5:c.3589T>C, XM_006719507.4:c.3589T>C, XM_006719507.3:c.3589T>C, XM_006719507.2:c.3589T>C, XM_006719507.1:c.3589T>C, XM_006719514.5:c.3322T>C, XM_006719514.4:c.3322T>C, XM_006719514.3:c.3322T>C, XM_006719514.2:c.3322T>C, XM_006719514.1:c.3322T>C, XM_011538571.4:c.3487T>C, XM_011538571.3:c.3487T>C, XM_011538571.2:c.3487T>C, XM_011538571.1:c.3487T>C, XM_017019652.3:c.3577T>C, XM_017019652.2:c.3577T>C, XM_017019652.1:c.3577T>C, XM_024449061.2:c.2485T>C, XM_024449061.1:c.2485T>C, XM_024449060.2:c.2329T>C, XM_024449060.1:c.2329T>C, XM_024449069.2:c.1096T>C, XM_024449069.1:c.1096T>C, XM_024449065.2:c.1174T>C, XM_024449065.1:c.1174T>C, XM_047429165.1:c.2329T>C, XM_047429166.1:c.2329T>C, XM_047429167.1:c.2329T>C, XM_047429168.1:c.1162T>C, XM_047429169.1:c.1096T>C, XM_047429170.1:c.604T>C, NP_690001.3:p.Tyr1172His, NP_858056.2:p.Tyr422His, NP_064525.1:p.Tyr338His, NP_001339115.1:p.Tyr1197His, NP_001339129.1:p.Tyr423His, NP_001339127.1:p.Tyr423His, NP_001339134.1:p.Tyr423His, NP_001339124.1:p.Tyr422His, NP_001190997.1:p.Tyr398His, NP_001339133.1:p.Tyr398His, NP_001339131.1:p.Tyr398His, NP_001190998.1:p.Tyr362His, NP_001339135.1:p.Tyr362His, NP_001190999.1:p.Tyr338His, NP_001339128.1:p.Tyr338His, NP_001339132.1:p.Tyr327His, NP_001339122.1:p.Tyr341His, NP_001339121.1:p.Tyr341His, NP_001339123.1:p.Tyr302His, NP_001339130.1:p.Tyr302His, NP_001339120.1:p.Tyr281His, NP_001190996.1:p.Tyr307His, NP_001190995.1:p.Tyr270His, NP_001339137.1:p.Tyr202His, NP_001339148.1:p.Tyr203His, NP_001191008.1:p.Tyr203His, NP_001190994.1:p.Tyr202His, NP_001339151.1:p.Tyr202His, NP_001339136.1:p.Tyr178His, NP_001339138.1:p.Tyr178His, NP_001191009.1:p.Tyr178His, NP_001339150.1:p.Tyr178His, NP_001339139.1:p.Tyr153His, NP_001339154.1:p.Tyr153His, NP_001339147.1:p.Tyr103His, NP_001339141.1:p.Tyr103His, NP_001339149.1:p.Tyr103His, NP_001339146.1:p.Tyr103His, NP_001339140.1:p.Tyr103His, NP_001339153.1:p.Tyr103His, NP_001339125.1:p.Tyr422His, NP_001339126.1:p.Tyr398His, NP_001339152.1:p.Tyr203His, NP_001191010.1:p.Tyr178His, NP_001339143.1:p.Tyr103His, NP_001339142.1:p.Tyr103His, NP_001339145.1:p.Tyr103His, NP_001339117.1:p.Tyr1196His, NP_001339116.1:p.Tyr1172His, NP_001339114.1:p.Tyr1172His, NP_001339119.1:p.Tyr392His, NP_001339118.1:p.Tyr391His, XP_005269086.1:p.Tyr1168His, XP_006719571.1:p.Tyr1197His, XP_006719573.1:p.Tyr1172His, XP_006719568.1:p.Tyr1197His, XP_006719567.1:p.Tyr1196His, XP_006719575.1:p.Tyr1112His, XP_006719576.1:p.Tyr1112His, XP_006719570.1:p.Tyr1197His, XP_006719577.1:p.Tyr1108His, XP_011536873.1:p.Tyr1163His, XP_016875141.1:p.Tyr1193His, XP_024304829.1:p.Tyr829His, XP_024304828.1:p.Tyr777His, XP_024304837.1:p.Tyr366His, XP_024304833.1:p.Tyr392His, XP_047285121.1:p.Tyr777His, XP_047285122.1:p.Tyr777His, XP_047285123.1:p.Tyr777His, XP_047285124.1:p.Tyr388His, XP_047285125.1:p.Tyr366His, XP_047285126.1:p.Tyr202His

                                        20.

                                        rs1354228844 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          12:98798976 (GRCh38)
                                          12:99192754 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:98798975:A:G
                                          Gene:
                                          ANKS1B (Varview)
                                          Functional Consequence:
                                          synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000012.12:g.98798976A>G, NC_000012.11:g.99192754A>G, NG_029860.2:g.1190679T>C, NM_152788.4:c.3225T>C, NM_181670.4:c.975T>C, NM_181670.3:c.975T>C, NM_020140.4:c.723T>C, NM_020140.3:c.723T>C, NM_001352186.2:c.3300T>C, NM_001352186.1:c.3300T>C, NM_001352200.2:c.978T>C, NM_001352200.1:c.978T>C, NM_001352198.2:c.978T>C, NM_001352198.1:c.978T>C, NM_001352205.2:c.978T>C, NM_001352205.1:c.978T>C, NM_001352195.2:c.975T>C, NM_001352195.1:c.975T>C, NM_001204068.2:c.903T>C, NM_001204068.1:c.903T>C, NM_001352204.2:c.903T>C, NM_001352204.1:c.903T>C, NM_001352202.2:c.903T>C, NM_001352202.1:c.903T>C, NM_001204069.2:c.795T>C, NM_001204069.1:c.795T>C, NM_001352206.2:c.795T>C, NM_001352206.1:c.795T>C, NM_001204070.2:c.723T>C, NM_001204070.1:c.723T>C, NM_001352199.2:c.723T>C, NM_001352199.1:c.723T>C, NM_001352203.2:c.690T>C, NM_001352203.1:c.690T>C, NM_001352193.2:c.732T>C, NM_001352193.1:c.732T>C, NM_001352192.2:c.732T>C, NM_001352192.1:c.732T>C, NM_001352194.2:c.615T>C, NM_001352194.1:c.615T>C, NM_001352201.2:c.615T>C, NM_001352201.1:c.615T>C, NM_001352191.2:c.552T>C, NM_001352191.1:c.552T>C, NM_001204067.2:c.630T>C, NM_001204067.1:c.630T>C, NM_001204066.2:c.519T>C, NM_001204066.1:c.519T>C, NM_001352208.2:c.315T>C, NM_001352208.1:c.315T>C, NM_001352219.2:c.318T>C, NM_001352219.1:c.318T>C, NM_001204079.2:c.318T>C, NM_001204079.1:c.318T>C, NM_001204065.2:c.315T>C, NM_001204065.1:c.315T>C, NM_001352222.2:c.315T>C, NM_001352222.1:c.315T>C, NM_001352207.2:c.243T>C, NM_001352207.1:c.243T>C, NM_001352209.2:c.243T>C, NM_001352209.1:c.243T>C, NM_001204080.2:c.243T>C, NM_001204080.1:c.243T>C, NM_001352221.2:c.243T>C, NM_001352221.1:c.243T>C, NM_001352210.2:c.168T>C, NM_001352210.1:c.168T>C, NM_001352225.2:c.168T>C, NM_001352225.1:c.168T>C, NM_001352218.2:c.18T>C, NM_001352218.1:c.18T>C, NM_001352212.2:c.18T>C, NM_001352212.1:c.18T>C, NM_001352220.2:c.18T>C, NM_001352220.1:c.18T>C, NM_001352217.2:c.18T>C, NM_001352217.1:c.18T>C, NM_001352211.2:c.18T>C, NM_001352211.1:c.18T>C, NM_001352224.2:c.18T>C, NM_001352224.1:c.18T>C, NM_001352196.2:c.975T>C, NM_001352196.1:c.975T>C, NM_001352197.2:c.903T>C, NM_001352197.1:c.903T>C, NM_001352223.2:c.318T>C, NM_001352223.1:c.318T>C, NM_001204081.2:c.243T>C, NM_001204081.1:c.243T>C, NM_001352214.2:c.18T>C, NM_001352214.1:c.18T>C, NM_001352213.2:c.18T>C, NM_001352213.1:c.18T>C, NM_001352216.2:c.18T>C, NM_001352216.1:c.18T>C, NM_001352188.1:c.3297T>C, NM_001352187.1:c.3225T>C, NM_001352185.1:c.3225T>C, NM_001352190.1:c.885T>C, NM_001352189.1:c.882T>C, XM_005269029.6:c.3213T>C, XM_005269029.5:c.3213T>C, XM_005269029.4:c.3213T>C, XM_005269029.3:c.3213T>C, XM_005269029.2:c.3213T>C, XM_005269029.1:c.3213T>C, XM_006719508.5:c.3300T>C, XM_006719508.4:c.3300T>C, XM_006719508.3:c.3300T>C, XM_006719508.2:c.3300T>C, XM_006719508.1:c.3300T>C, XM_006719510.5:c.3225T>C, XM_006719510.4:c.3225T>C, XM_006719510.3:c.3225T>C, XM_006719510.2:c.3225T>C, XM_006719510.1:c.3225T>C, XM_006719505.5:c.3300T>C, XM_006719505.4:c.3300T>C, XM_006719505.3:c.3300T>C, XM_006719505.2:c.3300T>C, XM_006719505.1:c.3300T>C, XM_006719504.5:c.3297T>C, XM_006719504.4:c.3297T>C, XM_006719504.3:c.3297T>C, XM_006719504.2:c.3297T>C, XM_006719504.1:c.3297T>C, XM_006719512.5:c.3045T>C, XM_006719512.4:c.3045T>C, XM_006719512.3:c.3045T>C, XM_006719512.2:c.3045T>C, XM_006719512.1:c.3045T>C, XM_006719513.5:c.3045T>C, XM_006719513.4:c.3045T>C, XM_006719513.3:c.3045T>C, XM_006719513.2:c.3045T>C, XM_006719513.1:c.3045T>C, XM_006719507.5:c.3300T>C, XM_006719507.4:c.3300T>C, XM_006719507.3:c.3300T>C, XM_006719507.2:c.3300T>C, XM_006719507.1:c.3300T>C, XM_006719514.5:c.3033T>C, XM_006719514.4:c.3033T>C, XM_006719514.3:c.3033T>C, XM_006719514.2:c.3033T>C, XM_006719514.1:c.3033T>C, XM_011538571.4:c.3198T>C, XM_011538571.3:c.3198T>C, XM_011538571.2:c.3198T>C, XM_011538571.1:c.3198T>C, XM_017019652.3:c.3288T>C, XM_017019652.2:c.3288T>C, XM_017019652.1:c.3288T>C, XM_024449061.2:c.2196T>C, XM_024449061.1:c.2196T>C, XM_024449060.2:c.2040T>C, XM_024449060.1:c.2040T>C, XM_024449069.2:c.807T>C, XM_024449069.1:c.807T>C, XM_024449065.2:c.885T>C, XM_024449065.1:c.885T>C, XM_047429165.1:c.2040T>C, XM_047429166.1:c.2040T>C, XM_047429167.1:c.2040T>C, XM_047429168.1:c.873T>C, XM_047429169.1:c.807T>C, XM_047429170.1:c.315T>C

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