ClinVar Miner

List of variants in gene CASQ2 studied for cardiac rhythm disease

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 538
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HGVS dbSNP gnomAD frequency
NM_001232.4(CASQ2):c.420+6T>C rs9428083 0.71176
NM_001232.4(CASQ2):c.320-77C>T rs7538337 0.70440
NM_001232.4(CASQ2):c.784-89C>T rs2997742 0.58397
NM_001232.4(CASQ2):c.738-109G>A rs4475752 0.51757
NM_001232.4(CASQ2):c.939+23C>T rs3811003 0.39341
NM_001232.4(CASQ2):c.196A>G (p.Thr66Ala) rs4074536 0.34486
NM_001232.3(CASQ2):c.-218T>C rs78585518 0.09790
NM_001232.4(CASQ2):c.-137T>C rs12069574 0.05139
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_001232.4(CASQ2):c.-21G>A rs12067472 0.01521
NM_001232.3(CASQ2):c.-206T>C rs112210550 0.01359
NM_001232.4(CASQ2):c.226G>A (p.Val76Met) rs10801999 0.01289
NM_001232.4(CASQ2):c.*503G>A rs72554068 0.00381
NM_001232.4(CASQ2):c.*1207A>G rs183297938 0.00310
NM_001232.4(CASQ2):c.198G>A (p.Thr66=) rs74114618 0.00243
NM_001232.3(CASQ2):c.-222C>T rs72703671 0.00231
NM_001232.4(CASQ2):c.*1023A>G rs74520962 0.00181
NM_001232.4(CASQ2):c.421-14G>A rs139281637 0.00159
NM_001232.3(CASQ2):c.-221G>A rs558523657 0.00112
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val) rs146333579 0.00076
NM_001232.4(CASQ2):c.730C>T (p.His244Tyr) rs142036299 0.00076
NM_001232.3(CASQ2):c.-234C>A rs553316024 0.00067
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754 0.00055
NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn) rs141314684 0.00039
NM_001232.4(CASQ2):c.874G>T (p.Ala292Ser) rs200643387 0.00033
NM_001232.4(CASQ2):c.320-18C>T rs376871374 0.00032
NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp) rs148824162 0.00031
NM_001232.4(CASQ2):c.861C>A (p.Ile287=) rs143718767 0.00028
NM_001232.3(CASQ2):c.-261T>A rs147113781 0.00026
NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser) rs28730713 0.00024
NM_001232.4(CASQ2):c.607-15T>C rs138298959 0.00021
NM_001232.4(CASQ2):c.*929C>T rs547458797 0.00019
NM_001232.4(CASQ2):c.1011A>T (p.Thr337=) rs137999497 0.00019
NM_001232.4(CASQ2):c.*38G>A rs199955994 0.00017
NM_001232.4(CASQ2):c.1087G>A (p.Glu363Lys) rs1193520667 0.00016
NM_001232.4(CASQ2):c.177G>A (p.Pro59=) rs371260149 0.00016
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn) rs199750975 0.00014
NM_001232.4(CASQ2):c.533-6C>T rs545407254 0.00013
NM_001232.3(CASQ2):c.-225G>A rs535999427 0.00011
NM_001232.4(CASQ2):c.421-18G>C rs202228431 0.00011
NM_001232.4(CASQ2):c.421-20A>T rs201559752 0.00011
NM_001232.4(CASQ2):c.540G>A (p.Lys180=) rs72554057 0.00011
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn) rs368007942 0.00010
NM_001232.4(CASQ2):c.*175T>G rs563342580 0.00009
NM_001232.4(CASQ2):c.*457C>T rs375002557 0.00009
NM_001232.4(CASQ2):c.235C>T (p.Leu79Phe) rs771298193 0.00009
NM_001232.4(CASQ2):c.80C>T (p.Thr27Ile) rs773237428 0.00009
NM_001232.4(CASQ2):c.898G>A (p.Asp300Asn) rs376147306 0.00009
NM_001232.4(CASQ2):c.1015-3C>T rs375320117 0.00008
NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys) rs151115064 0.00008
NM_001232.4(CASQ2):c.758G>A (p.Arg253His) rs199571249 0.00008
NM_001232.4(CASQ2):c.774T>C (p.Phe258=) rs181769947 0.00008
NM_001232.4(CASQ2):c.855G>C (p.Leu285=) rs148562107 0.00008
NM_001232.4(CASQ2):c.860T>A (p.Ile287Asn) rs368165922 0.00008
NM_001232.4(CASQ2):c.475G>A (p.Glu159Lys) rs375598471 0.00007
NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr) rs148057999 0.00007
NM_001232.4(CASQ2):c.532+17C>A rs768587375 0.00007
NM_001232.4(CASQ2):c.1121A>G (p.Asp374Gly) rs886045158 0.00006
NM_001232.4(CASQ2):c.1148A>G (p.Asp383Gly) rs397516640 0.00006
NM_001232.4(CASQ2):c.270C>A (p.Gly90=) rs72554056 0.00006
NM_001232.4(CASQ2):c.158G>T (p.Cys53Phe) rs151168851 0.00005
NM_001232.4(CASQ2):c.173A>T (p.Glu58Val) rs764732977 0.00005
NM_001232.4(CASQ2):c.897C>T (p.Pro299=) rs752053912 0.00005
NM_001232.4(CASQ2):c.927C>T (p.Asp309=) rs749266321 0.00005
NM_001232.4(CASQ2):c.*574T>C rs926002665 0.00004
NM_001232.4(CASQ2):c.376G>C (p.Asp126His) rs727502908 0.00004
NM_001232.4(CASQ2):c.606+12T>C rs763932609 0.00004
NM_001232.4(CASQ2):c.738-16_738-15insC rs747358070 0.00004
NM_001232.4(CASQ2):c.751C>T (p.Arg251Cys) rs781113955 0.00004
NM_001232.4(CASQ2):c.924G>A (p.Pro308=) rs761798969 0.00004
NM_001232.4(CASQ2):c.1097T>C (p.Leu366Pro) rs762153545 0.00003
NM_001232.4(CASQ2):c.1188T>C (p.Asp396=) rs751885773 0.00003
NM_001232.4(CASQ2):c.141G>C (p.Lys47Asn) rs1553197917 0.00003
NM_001232.4(CASQ2):c.175C>T (p.Pro59Ser) rs866858282 0.00003
NM_001232.4(CASQ2):c.234+3A>G rs727502909 0.00003
NM_001232.4(CASQ2):c.421-7A>T rs776008006 0.00003
NM_001232.4(CASQ2):c.491A>G (p.Tyr164Cys) rs72554062 0.00003
NM_001232.4(CASQ2):c.627G>A (p.Leu209=) rs1291884749 0.00003
NM_001232.4(CASQ2):c.650A>G (p.Tyr217Cys) rs373227317 0.00003
NM_001232.4(CASQ2):c.681C>T (p.Ile227=) rs769189583 0.00003
NM_001232.4(CASQ2):c.752G>A (p.Arg251His) rs200265771 0.00003
NM_001232.4(CASQ2):c.757C>A (p.Arg253Ser) rs727504510 0.00003
NM_001232.4(CASQ2):c.878G>A (p.Arg293Gln) rs377691566 0.00003
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu) rs139228801 0.00003
NM_001232.4(CASQ2):c.943G>A (p.Val315Ile) rs771188512 0.00003
NM_001232.4(CASQ2):c.979T>C (p.Phe327Leu) rs976749091 0.00003
NM_001232.4(CASQ2):c.1046A>T (p.Asp349Val) rs372865933 0.00002
NM_001232.4(CASQ2):c.1074G>A (p.Leu358=) rs753872950 0.00002
NM_001232.4(CASQ2):c.114C>T (p.Ser38=) rs571353035 0.00002
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys) rs1436844070 0.00002
NM_001232.4(CASQ2):c.234+2T>C rs757789935 0.00002
NM_001232.4(CASQ2):c.44C>G (p.Ser15Cys) rs185539994 0.00002
NM_001232.4(CASQ2):c.474C>T (p.Phe158=) rs754879716 0.00002
NM_001232.4(CASQ2):c.478C>T (p.Arg160Cys) rs750680032 0.00002
NM_001232.4(CASQ2):c.479G>A (p.Arg160His) rs372283956 0.00002
NM_001232.4(CASQ2):c.607-17A>G rs374227794 0.00002
NM_001232.4(CASQ2):c.633G>T (p.Met211Ile) rs377762175 0.00002
NM_001232.4(CASQ2):c.673A>G (p.Ile225Val) rs774546117 0.00002
NM_001232.4(CASQ2):c.737+6T>A rs760688872 0.00002
NM_001232.4(CASQ2):c.762A>G (p.Pro254=) rs753016201 0.00002
NM_001232.4(CASQ2):c.87T>C (p.Asp29=) rs772180952 0.00002
NM_001232.4(CASQ2):c.893A>G (p.Asn298Ser) rs548536938 0.00002
NM_001232.4(CASQ2):c.*1052A>G rs886045156 0.00001
NM_001232.4(CASQ2):c.*636G>C rs917180844 0.00001
NM_001232.4(CASQ2):c.*655C>T rs766012096 0.00001
NM_001232.4(CASQ2):c.1006G>A (p.Val336Ile) rs886045160 0.00001
NM_001232.4(CASQ2):c.1015-10C>T rs760797081 0.00001
NM_001232.4(CASQ2):c.1031T>A (p.Met344Lys) rs575326580 0.00001
NM_001232.4(CASQ2):c.1050C>T (p.Asp350=) rs758060229 0.00001
NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly) rs200899037 0.00001
NM_001232.4(CASQ2):c.1081T>A (p.Trp361Arg) rs375811174 0.00001
NM_001232.4(CASQ2):c.111T>C (p.Leu37=) rs1317500264 0.00001
NM_001232.4(CASQ2):c.1136A>T (p.Asp379Val) rs940257382 0.00001
NM_001232.4(CASQ2):c.1150A>G (p.Asn384Asp) rs772619751 0.00001
NM_001232.4(CASQ2):c.1165G>T (p.Asp389Tyr) rs747847223 0.00001
NM_001232.4(CASQ2):c.128A>G (p.Lys43Arg) rs1163471411 0.00001
NM_001232.4(CASQ2):c.133G>T (p.Val45Phe) rs746405346 0.00001
NM_001232.4(CASQ2):c.172G>A (p.Glu58Lys) rs376824588 0.00001
NM_001232.4(CASQ2):c.205C>G (p.Gln69Glu) rs761862949 0.00001
NM_001232.4(CASQ2):c.210C>G (p.Phe70Leu) rs774492523 0.00001
NM_001232.4(CASQ2):c.225C>T (p.Ile75=) rs1373884863 0.00001
NM_001232.4(CASQ2):c.227T>C (p.Val76Ala) rs1649199632 0.00001
NM_001232.4(CASQ2):c.229C>T (p.Leu77Phe) rs781778467 0.00001
NM_001232.4(CASQ2):c.257A>G (p.His86Arg) rs372587044 0.00001
NM_001232.4(CASQ2):c.281T>C (p.Val94Ala) rs755766840 0.00001
NM_001232.4(CASQ2):c.289A>G (p.Lys97Glu) rs750159744 0.00001
NM_001232.4(CASQ2):c.319+18G>A rs757103068 0.00001
NM_001232.4(CASQ2):c.319+20T>C rs751551798 0.00001
NM_001232.4(CASQ2):c.333A>G (p.Glu111=) rs727502910 0.00001
NM_001232.4(CASQ2):c.361C>T (p.Arg121Cys) rs570840019 0.00001
NM_001232.4(CASQ2):c.409T>C (p.Phe137Leu) rs762328417 0.00001
NM_001232.4(CASQ2):c.449G>T (p.Ser150Ile) rs772041539 0.00001
NM_001232.4(CASQ2):c.469G>C (p.Ala157Pro) rs779063209 0.00001
NM_001232.4(CASQ2):c.482T>C (p.Ile161Thr) rs151201435 0.00001
NM_001232.4(CASQ2):c.492C>T (p.Tyr164=) rs886038422 0.00001
NM_001232.4(CASQ2):c.495C>T (p.Ile165=) rs1447782106 0.00001
NM_001232.4(CASQ2):c.501C>G (p.Leu167=) rs146051391 0.00001
NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile) rs786205790 0.00001
NM_001232.4(CASQ2):c.533-12T>G rs774246167 0.00001
NM_001232.4(CASQ2):c.533-15T>C rs370268584 0.00001
NM_001232.4(CASQ2):c.533-20A>G rs760173068 0.00001
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter) rs758748280 0.00001
NM_001232.4(CASQ2):c.606+7_606+9del rs752653901 0.00001
NM_001232.4(CASQ2):c.615G>T (p.Lys205Asn) rs758082383 0.00001
NM_001232.4(CASQ2):c.645C>T (p.Asp215=) rs1320292050 0.00001
NM_001232.4(CASQ2):c.702A>G (p.Glu234=) rs756693726 0.00001
NM_001232.4(CASQ2):c.711G>T (p.Leu237=) rs777363402 0.00001
NM_001232.4(CASQ2):c.733C>T (p.Gln245Ter) rs754834466 0.00001
NM_001232.4(CASQ2):c.737+19G>C rs761915819 0.00001
NM_001232.4(CASQ2):c.738-19T>C rs759948112 0.00001
NM_001232.4(CASQ2):c.759C>T (p.Arg253=) rs1210277732 0.00001
NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter) rs776874142 0.00001
NM_001232.4(CASQ2):c.784-11T>G rs761150514 0.00001
NM_001232.4(CASQ2):c.784-19T>C rs765442639 0.00001
NM_001232.4(CASQ2):c.793T>G (p.Leu265Val) rs772419873 0.00001
NM_001232.4(CASQ2):c.839-2A>G rs1338756025 0.00001
NM_001232.4(CASQ2):c.83A>G (p.Tyr28Cys) rs1230753325 0.00001
NM_001232.4(CASQ2):c.846C>T (p.Tyr282=) rs764692110 0.00001
NM_001232.4(CASQ2):c.862C>G (p.Leu288Val) rs772096506 0.00001
NM_001232.4(CASQ2):c.877C>T (p.Arg293Trp) rs201306936 0.00001
NM_001232.4(CASQ2):c.884A>G (p.Asn295Ser) rs781565627 0.00001
NM_001232.4(CASQ2):c.903G>A (p.Leu301=) rs1350273999 0.00001
NM_001232.4(CASQ2):c.912G>A (p.Leu304=) rs146074006 0.00001
NM_001232.4(CASQ2):c.939+1G>T rs905985075 0.00001
NM_001232.4(CASQ2):c.957G>A (p.Glu319=) rs758803168 0.00001
NM_001232.4(CASQ2):c.971T>C (p.Ile324Thr) rs369403991 0.00001
NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln) rs749547712 0.00001
NC_000001.10:g.(?_116243862)_(116287553_?)dup
NC_000001.10:g.(?_116243862)_(116311162_?)dup
NC_000001.10:g.(?_116260441)_(116311162_?)dup
NC_000001.10:g.(?_116269603)_(116269753_?)del
NC_000001.10:g.(?_116275502)_(116280976_?)dup
NC_000001.11:g.(?_115701231)_(115744922_?)dup
NM_001232.3(CASQ2):c.-221_-220GT[10] rs72554067
NM_001232.3(CASQ2):c.-221_-220GT[11] rs72554067
NM_001232.3(CASQ2):c.-221_-220GT[12] rs72554067
NM_001232.3(CASQ2):c.-221_-220GT[5] rs72554067
NM_001232.3(CASQ2):c.-226C>G rs72703672
NM_001232.4(CASQ2):c.*1017dup rs11347859
NM_001232.4(CASQ2):c.*1183CTAA[1] rs886045155
NM_001232.4(CASQ2):c.*332A>T rs758724908
NM_001232.4(CASQ2):c.-105A>G rs886045161
NM_001232.4(CASQ2):c.-206_-205dup rs72554067
NM_001232.4(CASQ2):c.-212_-211insATGTGT rs886045162
NM_001232.4(CASQ2):c.-218delinsCGTGCGTGC rs886045163
NM_001232.4(CASQ2):c.-219_-218insCGTGTG rs886045164
NM_001232.4(CASQ2):c.1006G>C (p.Val336Leu)
NM_001232.4(CASQ2):c.1011A>G (p.Thr337=)
NM_001232.4(CASQ2):c.1014+10C>T
NM_001232.4(CASQ2):c.1014+11C>T
NM_001232.4(CASQ2):c.1014+13T>C
NM_001232.4(CASQ2):c.1014+14G>A
NM_001232.4(CASQ2):c.1014+16G>A
NM_001232.4(CASQ2):c.1014+1G>A rs1654250819
NM_001232.4(CASQ2):c.1014+20G>A
NM_001232.4(CASQ2):c.1014+20G>T rs369540921
NM_001232.4(CASQ2):c.1014+3G>A rs1654250763
NM_001232.4(CASQ2):c.1015-16T>C
NM_001232.4(CASQ2):c.1015-1G>A rs1654202571
NM_001232.4(CASQ2):c.1015-20C>A
NM_001232.4(CASQ2):c.1015-6C>T
NM_001232.4(CASQ2):c.1017dup (p.Asp340Ter) rs1553191909
NM_001232.4(CASQ2):c.101T>G (p.Val34Gly) rs1280686043
NM_001232.4(CASQ2):c.1021A>G (p.Ser341Gly)
NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter)
NM_001232.4(CASQ2):c.1029G>C (p.Trp343Cys) rs2101052355
NM_001232.4(CASQ2):c.1030A>T (p.Met344Leu) rs1295335060
NM_001232.4(CASQ2):c.1041A>T (p.Pro347=)
NM_001232.4(CASQ2):c.1059A>C (p.Pro353=)
NM_001232.4(CASQ2):c.1059A>T (p.Pro353=) rs754889548
NM_001232.4(CASQ2):c.1072C>T (p.Leu358=)
NM_001232.4(CASQ2):c.1082G>A (p.Trp361Ter)
NM_001232.4(CASQ2):c.1082G>C (p.Trp361Ser) rs786205792
NM_001232.4(CASQ2):c.1119AGATGATGATGA[1] (p.373EDDD[1]) rs764957093
NM_001232.4(CASQ2):c.1120G>A (p.Asp374Asn) rs886045159
NM_001232.4(CASQ2):c.1121A>T (p.Asp374Val) rs886045158
NM_001232.4(CASQ2):c.1122TGA[2] (p.Asp376del) rs202241842
NM_001232.4(CASQ2):c.1131A>G (p.Glu377=)
NM_001232.4(CASQ2):c.1131_1133del (p.Glu377del) rs765914619
NM_001232.4(CASQ2):c.1132GAT[4] (p.Asp382_Asp383del)
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del) rs72554069
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup) rs72554069
NM_001232.4(CASQ2):c.1134T>A (p.Asp378Glu) rs150486780
NM_001232.4(CASQ2):c.1137T>G (p.Asp379Glu) rs776130201
NM_001232.4(CASQ2):c.1140T>C (p.Asp380=)
NM_001232.4(CASQ2):c.1146T>C (p.Asp382=)
NM_001232.4(CASQ2):c.1149T>A (p.Asp383Glu) rs1206628721
NM_001232.4(CASQ2):c.114C>A (p.Ser38=) rs571353035
NM_001232.4(CASQ2):c.115G>A (p.Glu39Lys) rs756636650
NM_001232.4(CASQ2):c.115G>C (p.Glu39Gln)
NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter) rs756636650
NM_001232.4(CASQ2):c.1167T>C (p.Asp389=) rs1557783672
NM_001232.4(CASQ2):c.1168A>G (p.Asn390Asp) rs1570791816
NM_001232.4(CASQ2):c.1173T>C (p.Asp391=)
NM_001232.4(CASQ2):c.1176C>T (p.Asp392=)
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001232.4(CASQ2):c.1187A>T (p.Asp396Val)
NM_001232.4(CASQ2):c.1188T>A (p.Asp396Glu) rs751885773
NM_001232.4(CASQ2):c.1188TGA[4] (p.Asp398dup) rs72554070
NM_001232.4(CASQ2):c.118A>G (p.Lys40Glu) rs786205797
NM_001232.4(CASQ2):c.1191T>C (p.Asp397=)
NM_001232.4(CASQ2):c.1192G>A (p.Asp398Asn) rs1654192683
NM_001232.4(CASQ2):c.1197A>G (p.Glu399=) rs1251308717
NM_001232.4(CASQ2):c.12T>C (p.Thr4=)
NM_001232.4(CASQ2):c.132G>A (p.Gln44=)
NM_001232.4(CASQ2):c.146A>G (p.Tyr49Cys)
NM_001232.4(CASQ2):c.150C>T (p.Asp50=) rs1570867364
NM_001232.4(CASQ2):c.158G>A (p.Cys53Tyr) rs151168851
NM_001232.4(CASQ2):c.15C>T (p.His5=)
NM_001232.4(CASQ2):c.165C>T (p.Tyr55=)
NM_001232.4(CASQ2):c.174G>A (p.Glu58=)
NM_001232.4(CASQ2):c.175C>A (p.Pro59Thr) rs866858282
NM_001232.4(CASQ2):c.177G>T (p.Pro59=) rs371260149
NM_001232.4(CASQ2):c.180G>C (p.Val60=)
NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter)
NM_001232.4(CASQ2):c.205C>T (p.Gln69Ter)
NM_001232.4(CASQ2):c.207G>A (p.Gln69=)
NM_001232.4(CASQ2):c.210C>T (p.Phe70=) rs774492523
NM_001232.4(CASQ2):c.213del (p.Gln71fs) rs786205799
NM_001232.4(CASQ2):c.226_227inv (p.Val76Thr)
NM_001232.4(CASQ2):c.22A>G (p.Ile8Val) rs1649206559
NM_001232.4(CASQ2):c.231T>C (p.Leu77=) rs2101130383
NM_001232.4(CASQ2):c.234+13A>T
NM_001232.4(CASQ2):c.234+17C>T
NM_001232.4(CASQ2):c.234+18A>G
NM_001232.4(CASQ2):c.234+8A>C
NM_001232.4(CASQ2):c.234+9C>T
NM_001232.4(CASQ2):c.235-10del
NM_001232.4(CASQ2):c.235-15C>T
NM_001232.4(CASQ2):c.235-17del
NM_001232.4(CASQ2):c.235-2A>G rs1060502164
NM_001232.4(CASQ2):c.235-3C>T rs1186837357
NM_001232.4(CASQ2):c.235-8T>C rs2101101082
NM_001232.4(CASQ2):c.23T>C (p.Ile8Thr) rs1553197935
NM_001232.4(CASQ2):c.240G>A (p.Val80=) rs2101101070
NM_001232.4(CASQ2):c.240G>T (p.Val80=)
NM_001232.4(CASQ2):c.242C>T (p.Ala81Val) rs1648331024
NM_001232.4(CASQ2):c.244C>T (p.Gln82Ter)
NM_001232.4(CASQ2):c.249C>T (p.Val83=)
NM_001232.4(CASQ2):c.250C>T (p.Leu84Phe) rs1274422352
NM_001232.4(CASQ2):c.265A>G (p.Ile89Val)
NM_001232.4(CASQ2):c.268G>C (p.Gly90Arg)
NM_001232.4(CASQ2):c.268_269insTA (p.Gly90fs)
NM_001232.4(CASQ2):c.271T>C (p.Phe91Leu) rs1181984320
NM_001232.4(CASQ2):c.278T>C (p.Met93Thr) rs1328122344
NM_001232.4(CASQ2):c.286G>A (p.Ala96Thr) rs2101100994
NM_001232.4(CASQ2):c.292A>G (p.Lys98Glu)
NM_001232.4(CASQ2):c.294A>G (p.Lys98=)
NM_001232.4(CASQ2):c.299C>T (p.Ala100Val)
NM_001232.4(CASQ2):c.2T>C (p.Met1Thr) rs1553197939
NM_001232.4(CASQ2):c.303G>A (p.Lys101=)
NM_001232.4(CASQ2):c.305T>A (p.Leu102His)
NM_001232.4(CASQ2):c.306T>G (p.Leu102=)
NM_001232.4(CASQ2):c.319+10A>T
NM_001232.4(CASQ2):c.319+11T>C
NM_001232.4(CASQ2):c.319+1G>A rs1459829853
NM_001232.4(CASQ2):c.319+1G>C rs1459829853
NM_001232.4(CASQ2):c.319+20T>A rs751551798
NM_001232.4(CASQ2):c.319+2T>G
NM_001232.4(CASQ2):c.31A>T (p.Ile11Phe) rs2101130741
NM_001232.4(CASQ2):c.31del (p.Ile11fs)
NM_001232.4(CASQ2):c.320-10T>C rs553194567
NM_001232.4(CASQ2):c.320-11G>T
NM_001232.4(CASQ2):c.320-15C>G
NM_001232.4(CASQ2):c.320-3C>T
NM_001232.4(CASQ2):c.320-7C>T
NM_001232.4(CASQ2):c.324TGA[1] (p.Asp109del) rs1358515759
NM_001232.4(CASQ2):c.326A>T (p.Asp109Val) rs946911897
NM_001232.4(CASQ2):c.337A>C (p.Ser113Arg)
NM_001232.4(CASQ2):c.339_354del (p.Ser113fs) rs786205106
NM_001232.4(CASQ2):c.33T>C (p.Ile11=)
NM_001232.4(CASQ2):c.342G>A (p.Leu114=) rs1399153364
NM_001232.4(CASQ2):c.348T>C (p.Ile116=)
NM_001232.4(CASQ2):c.34T>A (p.Tyr12Asn) rs752330104
NM_001232.4(CASQ2):c.354G>A (p.Lys118=) rs1648148662
NM_001232.4(CASQ2):c.357T>C (p.Gly119=)
NM_001232.4(CASQ2):c.362G>A (p.Arg121His)
NM_001232.4(CASQ2):c.366A>G (p.Thr122=)
NM_001232.4(CASQ2):c.381C>T (p.Gly127=) rs775663612
NM_001232.4(CASQ2):c.382G>A (p.Glu128Lys) rs1557798151
NM_001232.4(CASQ2):c.389C>T (p.Ala130Val)
NM_001232.4(CASQ2):c.3G>A (p.Met1Ile)
NM_001232.4(CASQ2):c.406G>A (p.Glu136Lys)
NM_001232.4(CASQ2):c.414_415del (p.Leu139fs)
NM_001232.4(CASQ2):c.420+14C>T
NM_001232.4(CASQ2):c.420+16C>T
NM_001232.4(CASQ2):c.420+17A>G
NM_001232.4(CASQ2):c.420+18G>C
NM_001232.4(CASQ2):c.420+1G>A
NM_001232.4(CASQ2):c.420+20G>A
NM_001232.4(CASQ2):c.420+8_420+9insATAAATGC
NM_001232.4(CASQ2):c.421-15C>G rs199939582
NM_001232.4(CASQ2):c.421-15C>T rs199939582
NM_001232.4(CASQ2):c.421C>T (p.Leu141=) rs1570831673
NM_001232.4(CASQ2):c.422T>G (p.Leu141Arg) rs1648036832
NM_001232.4(CASQ2):c.423A>G (p.Leu141=) rs770571012
NM_001232.4(CASQ2):c.426T>C (p.Ile142=)
NM_001232.4(CASQ2):c.432C>T (p.Asp144=)
NM_001232.4(CASQ2):c.435A>G (p.Pro145=) rs1570831633
NM_001232.4(CASQ2):c.438G>A (p.Val146=)
NM_001232.4(CASQ2):c.444C>T (p.Ile148=)
NM_001232.4(CASQ2):c.446T>G (p.Ile149Ser) rs1060502165
NM_001232.4(CASQ2):c.466C>T (p.Gln156Ter) rs1648034747
NM_001232.4(CASQ2):c.467_478del (p.Gln156_Glu159del) rs1648034165
NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter) rs375598471
NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu) rs146333579
NM_001232.4(CASQ2):c.487G>A (p.Asp163Asn)
NM_001232.4(CASQ2):c.48T>C (p.Ser16=) rs2101130724
NM_001232.4(CASQ2):c.498A>T (p.Lys166Asn) rs2101091967
NM_001232.4(CASQ2):c.500T>A (p.Leu167His) rs121434550
NM_001232.4(CASQ2):c.519T>C (p.Ser173=)
NM_001232.4(CASQ2):c.522G>A (p.Glu174=) rs2101091922
NM_001232.4(CASQ2):c.532+13C>T rs1442512343
NM_001232.4(CASQ2):c.532+14C>A
NM_001232.4(CASQ2):c.532+17C>T
NM_001232.4(CASQ2):c.532+7T>G
NM_001232.4(CASQ2):c.532+8G>T
NM_001232.4(CASQ2):c.533-13T>C
NM_001232.4(CASQ2):c.533-15del
NM_001232.4(CASQ2):c.533-19T>C
NM_001232.4(CASQ2):c.533-5C>T
NM_001232.4(CASQ2):c.537C>A (p.Tyr179Ter)
NM_001232.4(CASQ2):c.538A>C (p.Lys180Gln)
NM_001232.4(CASQ2):c.539A>G (p.Lys180Arg) rs886039816
NM_001232.4(CASQ2):c.541G>C (p.Ala181Pro) rs745879915
NM_001232.4(CASQ2):c.543T>G (p.Ala181=) rs912740566
NM_001232.4(CASQ2):c.546del (p.Phe182fs) rs763955301
NM_001232.4(CASQ2):c.564C>T (p.His188=)
NM_001232.4(CASQ2):c.578_580delinsAC (p.Ile193fs) rs397516643
NM_001232.4(CASQ2):c.579C>G (p.Ile193Met)
NM_001232.4(CASQ2):c.581A>C (p.Lys194Thr) rs755558916
NM_001232.4(CASQ2):c.603A>G (p.Lys201=) rs1557794917
NM_001232.4(CASQ2):c.606+16A>G
NM_001232.4(CASQ2):c.606+18C>T
NM_001232.4(CASQ2):c.606+1G>C rs786205791
NM_001232.4(CASQ2):c.606+7A>T rs1060504495
NM_001232.4(CASQ2):c.606G>A (p.Gly202=) rs1647836874
NM_001232.4(CASQ2):c.607-11_607-2del
NM_001232.4(CASQ2):c.607-16T>A
NM_001232.4(CASQ2):c.607-17A>C
NM_001232.4(CASQ2):c.607-18T>G
NM_001232.4(CASQ2):c.607-1G>A
NM_001232.4(CASQ2):c.607-4A>G
NM_001232.4(CASQ2):c.607-5T>C
NM_001232.4(CASQ2):c.607-6T>C
NM_001232.4(CASQ2):c.607-7G>T
NM_001232.4(CASQ2):c.607-8G>T
NM_001232.4(CASQ2):c.607-9T>C
NM_001232.4(CASQ2):c.625T>C (p.Leu209=) rs2101079232
NM_001232.4(CASQ2):c.62del (p.Glu21fs) rs397507555
NM_001232.4(CASQ2):c.630G>A (p.Lys210=)
NM_001232.4(CASQ2):c.636T>C (p.Asn212=)
NM_001232.4(CASQ2):c.646T>G (p.Phe216Val)
NM_001232.4(CASQ2):c.64G>A (p.Gly22Arg)
NM_001232.4(CASQ2):c.650A>T (p.Tyr217Phe) rs373227317
NM_001232.4(CASQ2):c.657A>G (p.Pro219=)
NM_001232.4(CASQ2):c.669G>A (p.Glu223=)
NM_001232.4(CASQ2):c.66G>A (p.Gly22=)
NM_001232.4(CASQ2):c.675T>A (p.Ile225=)
NM_001232.4(CASQ2):c.683C>G (p.Pro228Arg) rs2101079136
NM_001232.4(CASQ2):c.684C>T (p.Pro228=)
NM_001232.4(CASQ2):c.687C>G (p.Asn229Lys) rs2101079130
NM_001232.4(CASQ2):c.691C>T (p.Pro231Ser) rs749796276
NM_001232.4(CASQ2):c.692C>T (p.Pro231Leu) rs780769796
NM_001232.4(CASQ2):c.693T>C (p.Pro231=)
NM_001232.4(CASQ2):c.705G>T (p.Glu235Asp) rs746446022
NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter) rs1647617368
NM_001232.4(CASQ2):c.730_731inv (p.His244Cys)
NM_001232.4(CASQ2):c.736A>T (p.Arg246Ter)
NM_001232.4(CASQ2):c.737+12G>A
NM_001232.4(CASQ2):c.737+13G>A
NM_001232.4(CASQ2):c.737+13G>T
NM_001232.4(CASQ2):c.737+14C>T
NM_001232.4(CASQ2):c.737+15A>G
NM_001232.4(CASQ2):c.737+16T>C
NM_001232.4(CASQ2):c.737+17G>A rs1196679914
NM_001232.4(CASQ2):c.737+17G>T
NM_001232.4(CASQ2):c.737+1G>A
NM_001232.4(CASQ2):c.737+2T>A rs1366771173
NM_001232.4(CASQ2):c.737+8A>T
NM_001232.4(CASQ2):c.737+9G>T
NM_001232.4(CASQ2):c.738-11_738-5del rs56889721
NM_001232.4(CASQ2):c.738-12_738-5del rs56889721
NM_001232.4(CASQ2):c.738-15_738-5del
NM_001232.4(CASQ2):c.738-16T>G
NM_001232.4(CASQ2):c.738-16_738-5del rs56889721
NM_001232.4(CASQ2):c.738-17_738-5del rs56889721
NM_001232.4(CASQ2):c.738-19_738-5del
NM_001232.4(CASQ2):c.738-20T>C
NM_001232.4(CASQ2):c.738-27dup rs56889721
NM_001232.4(CASQ2):c.738-4C>A
NM_001232.4(CASQ2):c.738-5del rs56889721
NM_001232.4(CASQ2):c.738-6_738-4dup
NM_001232.4(CASQ2):c.738-6_738-5del rs56889721
NM_001232.4(CASQ2):c.738-7T>C
NM_001232.4(CASQ2):c.738-7_738-5del rs56889721
NM_001232.4(CASQ2):c.738-8T>C
NM_001232.4(CASQ2):c.738-8_738-5del rs56889721
NM_001232.4(CASQ2):c.740C>G (p.Pro247Arg) rs768261470
NM_001232.4(CASQ2):c.741C>T (p.Pro247=)
NM_001232.4(CASQ2):c.749G>T (p.Arg250Leu) rs187306418
NM_001232.4(CASQ2):c.753C>G (p.Arg251=)
NM_001232.4(CASQ2):c.753C>T (p.Arg251=)
NM_001232.4(CASQ2):c.754del (p.Leu252fs)
NM_001232.4(CASQ2):c.758G>C (p.Arg253Pro) rs199571249
NM_001232.4(CASQ2):c.758G>T (p.Arg253Leu) rs199571249
NM_001232.4(CASQ2):c.762A>C (p.Pro254=)
NM_001232.4(CASQ2):c.781del (p.Trp261fs)
NM_001232.4(CASQ2):c.783+13C>G
NM_001232.4(CASQ2):c.783+17del
NM_001232.4(CASQ2):c.783+19C>G
NM_001232.4(CASQ2):c.783+3A>G rs876657751
NM_001232.4(CASQ2):c.784-11T>C
NM_001232.4(CASQ2):c.784-14_784-12dup
NM_001232.4(CASQ2):c.784-15A>G
NM_001232.4(CASQ2):c.784-17T>A rs2997741
NM_001232.4(CASQ2):c.784-17T>G rs2997741
NM_001232.4(CASQ2):c.784-18del
NM_001232.4(CASQ2):c.784-1G>A
NM_001232.4(CASQ2):c.784-5T>C rs2101068877
NM_001232.4(CASQ2):c.784-7C>T rs2101068879
NM_001232.4(CASQ2):c.784-9C>G rs2101068882
NM_001232.4(CASQ2):c.808A>T (p.Ile270Phe)
NM_001232.4(CASQ2):c.809T>C (p.Ile270Thr) rs762381137
NM_001232.4(CASQ2):c.825G>A (p.Glu275=)
NM_001232.4(CASQ2):c.828G>A (p.Lys276=)
NM_001232.4(CASQ2):c.835C>A (p.Pro279Thr) rs769435706
NM_001232.4(CASQ2):c.837A>G (p.Pro279=) rs1647217312
NM_001232.4(CASQ2):c.837A>T (p.Pro279=) rs1647217312
NM_001232.4(CASQ2):c.838+10C>A
NM_001232.4(CASQ2):c.838+16C>A
NM_001232.4(CASQ2):c.838+18T>A
NM_001232.4(CASQ2):c.838+9C>A
NM_001232.4(CASQ2):c.839-10C>A rs1285000814
NM_001232.4(CASQ2):c.839-19C>G
NM_001232.4(CASQ2):c.839-8T>C
NM_001232.4(CASQ2):c.843C>G (p.Gly281=)
NM_001232.4(CASQ2):c.846C>A (p.Tyr282Ter)
NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter) rs1471576368
NM_001232.4(CASQ2):c.860T>G (p.Ile287Ser) rs368165922
NM_001232.4(CASQ2):c.861C>T (p.Ile287=) rs143718767
NM_001232.4(CASQ2):c.865A>G (p.Lys289Glu)
NM_001232.4(CASQ2):c.877C>A (p.Arg293=)
NM_001232.4(CASQ2):c.878G>C (p.Arg293Pro) rs377691566
NM_001232.4(CASQ2):c.888T>C (p.Thr296=) rs769250369
NM_001232.4(CASQ2):c.891C>T (p.Asp297=)
NM_001232.4(CASQ2):c.894C>A (p.Asn298Lys) rs923161859
NM_001232.4(CASQ2):c.894C>T (p.Asn298=)
NM_001232.4(CASQ2):c.896C>G (p.Pro299Arg) rs974622106
NM_001232.4(CASQ2):c.898_900dup (p.Asp300dup) rs1557785041
NM_001232.4(CASQ2):c.900T>C (p.Asp300=)
NM_001232.4(CASQ2):c.901C>T (p.Leu301=)
NM_001232.4(CASQ2):c.905G>C (p.Ser302Thr) rs979113189
NM_001232.4(CASQ2):c.909C>T (p.Ile303=)
NM_001232.4(CASQ2):c.918C>T (p.Ile306=)
NM_001232.4(CASQ2):c.919G>C (p.Asp307His) rs121434549
NM_001232.4(CASQ2):c.921C>T (p.Asp307=) rs773111521
NM_001232.4(CASQ2):c.923C>A (p.Pro308Gln) rs139228801
NM_001232.4(CASQ2):c.925del (p.Asp309fs)
NM_001232.4(CASQ2):c.926A>G (p.Asp309Gly) rs72703607
NM_001232.4(CASQ2):c.926A>T (p.Asp309Val) rs72703607
NM_001232.4(CASQ2):c.933T>A (p.Phe311Leu) rs769960615
NM_001232.4(CASQ2):c.937C>G (p.Leu313Val) rs1654321088
NM_001232.4(CASQ2):c.939+13A>G
NM_001232.4(CASQ2):c.939+19C>A rs370092811
NM_001232.4(CASQ2):c.939+19C>T
NM_001232.4(CASQ2):c.939+1G>A
NM_001232.4(CASQ2):c.939+20G>A rs1431164488
NM_001232.4(CASQ2):c.939+20G>C
NM_001232.4(CASQ2):c.939+3G>A
NM_001232.4(CASQ2):c.939+5G>C rs746128346
NM_001232.4(CASQ2):c.939+8G>T
NM_001232.4(CASQ2):c.939+9C>T rs2101055914
NM_001232.4(CASQ2):c.940-10G>A
NM_001232.4(CASQ2):c.940-11del
NM_001232.4(CASQ2):c.940-12T>C
NM_001232.4(CASQ2):c.940-12T>G
NM_001232.4(CASQ2):c.940-18A>C
NM_001232.4(CASQ2):c.940-19T>C
NM_001232.4(CASQ2):c.940-1G>T rs876657635
NM_001232.4(CASQ2):c.940-7G>T
NM_001232.4(CASQ2):c.942C>G (p.Leu314=)
NM_001232.4(CASQ2):c.942C>T (p.Leu314=)
NM_001232.4(CASQ2):c.959A>C (p.Lys320Thr) rs1654255083
NM_001232.4(CASQ2):c.960G>A (p.Lys320=)
NM_001232.4(CASQ2):c.966C>T (p.Phe322=)
NM_001232.4(CASQ2):c.972T>C (p.Ile324=)
NM_001232.4(CASQ2):c.974_983del (p.Asp325fs)
NM_001232.4(CASQ2):c.97C>A (p.Arg33=)
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter) rs397507556
NM_001232.4(CASQ2):c.981C>A (p.Phe327Leu) rs2101053786
NM_001232.4(CASQ2):c.987A>G (p.Pro329=)
NM_001232.4(CASQ2):c.987A>T (p.Pro329=)
NM_001232.4(CASQ2):c.988C>G (p.Gln330Glu)
NM_001232.4(CASQ2):c.988C>T (p.Gln330Ter) rs767023791
NM_001232.4(CASQ2):c.98G>T (p.Arg33Leu) rs749547712
NM_001232.4(CASQ2):c.996G>A (p.Gly332=)
NM_001232.4(CASQ2):c.999G>A (p.Val333=)

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