NM_001232.4(CASQ2):c.420+6T>C
|
rs9428083
|
0.71176
|
NM_001232.4(CASQ2):c.196A>G (p.Thr66Ala)
|
rs4074536
|
0.34486
|
NM_001232.4(CASQ2):c.731A>G (p.His244Arg)
|
rs28730716
|
0.02511
|
NM_001232.4(CASQ2):c.226G>A (p.Val76Met)
|
rs10801999
|
0.01289
|
NM_001232.4(CASQ2):c.198G>A (p.Thr66=)
|
rs74114618
|
0.00243
|
NM_001232.4(CASQ2):c.421-14G>A
|
rs139281637
|
0.00159
|
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val)
|
rs146333579
|
0.00076
|
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_001232.4(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.1011A>T (p.Thr337=)
|
rs137999497
|
0.00019
|
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_001232.4(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.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.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.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.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.893A>G (p.Asn298Ser)
|
rs548536938
|
0.00002
|
NM_001232.4(CASQ2):c.1015-10C>T
|
rs760797081
|
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.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.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.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)_(116244067_?)del
|
|
|
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_000001.10:g.(?_116287429)_(116287553_?)del
|
|
|
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.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.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.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.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>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.320-11G>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.366A>G (p.Thr122=)
|
|
|
NM_001232.4(CASQ2):c.381C>T (p.Gly127=)
|
rs775663612
|
|
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.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.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.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.607-5T>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.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.693T>C (p.Pro231=)
|
|
|
NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter)
|
rs1647617368
|
|
NM_001232.4(CASQ2):c.730_731inv (p.His244Cys)
|
|
|
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+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.738-15_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.738-4C>A
|
|
|
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.738-8T>C
|
|
|
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.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.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=)
|
|
|