NM_003073.5(SMARCB1):c.444C>T (p.Ser148=)
|
rs138184483
|
0.00115
|
NM_003073.5(SMARCB1):c.500+24C>G
|
rs199737164
|
0.00086
|
NM_003073.5(SMARCB1):c.585C>T (p.Ile195=)
|
rs757546528
|
0.00006
|
NM_003073.5(SMARCB1):c.987-4G>A
|
rs745773662
|
0.00006
|
NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=)
|
rs149451748
|
0.00004
|
NM_003073.5(SMARCB1):c.712G>A (p.Ala238Thr)
|
rs765514964
|
0.00003
|
NM_003073.5(SMARCB1):c.755G>A (p.Ser252Asn)
|
rs372924301
|
0.00003
|
NM_003073.5(SMARCB1):c.1142C>T (p.Thr381Met)
|
rs1387467529
|
0.00002
|
NM_003073.5(SMARCB1):c.374C>G (p.Ala125Gly)
|
rs1029942798
|
0.00002
|
NM_003073.5(SMARCB1):c.500+10C>T
|
rs773391973
|
0.00002
|
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr)
|
rs762962010
|
0.00002
|
NM_003073.5(SMARCB1):c.64G>A (p.Asp22Asn)
|
rs1417899723
|
0.00002
|
NM_003073.5(SMARCB1):c.749C>T (p.Thr250Met)
|
rs751957685
|
0.00002
|
NM_003073.5(SMARCB1):c.1022G>A (p.Arg341Gln)
|
rs748441485
|
0.00001
|
NM_003073.5(SMARCB1):c.1028C>T (p.Thr343Met)
|
rs773457718
|
0.00001
|
NM_003073.5(SMARCB1):c.1033G>A (p.Asp345Asn)
|
rs794727911
|
0.00001
|
NM_003073.5(SMARCB1):c.1115C>T (p.Thr372Met)
|
rs992198711
|
0.00001
|
NM_003073.5(SMARCB1):c.11T>C (p.Met4Thr)
|
rs371477865
|
0.00001
|
NM_003073.5(SMARCB1):c.166A>T (p.Thr56Ser)
|
rs1568936098
|
0.00001
|
NM_003073.5(SMARCB1):c.281C>T (p.Ser94Leu)
|
rs1223772419
|
0.00001
|
NM_003073.5(SMARCB1):c.340A>C (p.Thr114Pro)
|
rs750822703
|
0.00001
|
NM_003073.5(SMARCB1):c.358C>T (p.Leu120Phe)
|
rs754350320
|
0.00001
|
NM_003073.5(SMARCB1):c.362+8G>A
|
rs727504162
|
0.00001
|
NM_003073.5(SMARCB1):c.366A>T (p.Glu122Asp)
|
rs1060503018
|
0.00001
|
NM_003073.5(SMARCB1):c.463C>T (p.Arg155Cys)
|
rs1458920579
|
0.00001
|
NM_003073.5(SMARCB1):c.500+6G>C
|
rs772329556
|
0.00001
|
NM_003073.5(SMARCB1):c.520G>T (p.Ala174Ser)
|
rs746433763
|
0.00001
|
NM_003073.5(SMARCB1):c.550G>A (p.Glu184Lys)
|
rs776374083
|
0.00001
|
NM_003073.5(SMARCB1):c.553G>A (p.Val185Met)
|
rs1251083217
|
0.00001
|
NM_003073.5(SMARCB1):c.620A>G (p.Asn207Ser)
|
rs763872301
|
0.00001
|
NM_003073.5(SMARCB1):c.695C>T (p.Thr232Met)
|
rs776693680
|
0.00001
|
NM_003073.5(SMARCB1):c.743A>G (p.Tyr248Cys)
|
rs1444281296
|
0.00001
|
NM_003073.5(SMARCB1):c.767A>G (p.Asp256Gly)
|
rs749976156
|
0.00001
|
NM_003073.5(SMARCB1):c.781C>T (p.Arg261Cys)
|
rs1368176286
|
0.00001
|
NM_003073.5(SMARCB1):c.790A>G (p.Ile264Val)
|
rs887245809
|
0.00001
|
NM_003073.5(SMARCB1):c.888G>T (p.Lys296Asn)
|
rs769322487
|
0.00001
|
NM_003073.5(SMARCB1):c.896C>T (p.Ser299Leu)
|
rs1362758319
|
0.00001
|
NM_003073.5(SMARCB1):c.934G>A (p.Ala312Thr)
|
rs749348930
|
0.00001
|
NM_003073.5(SMARCB1):c.946C>T (p.Arg316Trp)
|
rs769023941
|
0.00001
|
NM_003073.5(SMARCB1):c.947G>A (p.Arg316Gln)
|
rs2030327999
|
0.00001
|
NM_003073.5(SMARCB1):c.986+3A>G
|
rs1601433601
|
0.00001
|
NC_000022.10:g.(?_24129347)_(24176377_?)dup
|
|
|
NC_000022.10:g.(?_24129357)_(24130008_?)dup
|
|
|
NC_000022.10:g.(?_24129357)_(24145619_?)dup
|
|
|
NC_000022.10:g.(?_24129357)_(24167612_?)dup
|
|
|
NC_000022.10:g.(?_24129361)_24282899dup
|
|
|
NC_000022.10:g.(?_24130008)_(24176449_?)dup
|
|
|
NC_000022.10:g.(?_24133933)_(24176367_?)dup
|
|
|
NC_000022.10:g.(?_24133933)_(24176377_?)dup
|
|
|
NC_000022.10:g.(?_24143121)_(24176377_?)dup
|
|
|
NC_000022.10:g.(?_24143121)_(24176449_?)dup
|
|
|
NC_000022.10:g.(?_24175749)_(24176377_?)dup
|
|
|
NC_000022.10:g.(?_24175753)_(24176372_?)dup
|
|
|
NC_000022.11:g.(?_23787160)_(23803432_?)dup
|
|
|
NC_000022.11:g.(?_23787160)_(23825425_?)dup
|
|
|
NC_000022.11:g.(?_23787170)_(23834262_?)dup
|
|
|
NC_000022.11:g.(?_23816760)_(23834262_?)dup
|
|
|
NM_003073.5(SMARCB1):c.*6C>T
|
|
|
NM_003073.5(SMARCB1):c.*75_*86del
|
|
|
NM_003073.5(SMARCB1):c.*82C>G
|
rs878854600
|
|
NM_003073.5(SMARCB1):c.-1_2del (p.Met4del)
|
|
|
NM_003073.5(SMARCB1):c.-4C>T
|
|
|
NM_003073.5(SMARCB1):c.1011G>T (p.Glu337Asp)
|
|
|
NM_003073.5(SMARCB1):c.1012A>C (p.Ile338Leu)
|
rs2146041824
|
|
NM_003073.5(SMARCB1):c.1012A>G (p.Ile338Val)
|
|
|
NM_003073.5(SMARCB1):c.1013T>C (p.Ile338Thr)
|
rs2146041839
|
|
NM_003073.5(SMARCB1):c.1018A>G (p.Ile340Val)
|
|
|
NM_003073.5(SMARCB1):c.101A>G (p.Asn34Ser)
|
rs2145959891
|
|
NM_003073.5(SMARCB1):c.1020C>G (p.Ile340Met)
|
|
|
NM_003073.5(SMARCB1):c.1021C>T (p.Arg341Trp)
|
|
|
NM_003073.5(SMARCB1):c.1025A>G (p.Asn342Ser)
|
rs2146041993
|
|
NM_003073.5(SMARCB1):c.1033G>T (p.Asp345Tyr)
|
rs794727911
|
|
NM_003073.5(SMARCB1):c.1037C>T (p.Ala346Val)
|
rs1231539032
|
|
NM_003073.5(SMARCB1):c.103_105del (p.Tyr35del)
|
|
|
NM_003073.5(SMARCB1):c.1042C>G (p.Gln348Glu)
|
|
|
NM_003073.5(SMARCB1):c.1052C>T (p.Pro351Leu)
|
rs2030790017
|
|
NM_003073.5(SMARCB1):c.106C>T (p.Leu36Phe)
|
rs2145959920
|
|
NM_003073.5(SMARCB1):c.1091A>T (p.Lys364Met)
|
rs2030793132
|
|
NM_003073.5(SMARCB1):c.1092G>T (p.Lys364Asn)
|
|
|
NM_003073.5(SMARCB1):c.1097G>A (p.Arg366His)
|
rs1555881572
|
|
NM_003073.5(SMARCB1):c.1099G>C (p.Asp367His)
|
rs2030794083
|
|
NM_003073.5(SMARCB1):c.10A>T (p.Met4Leu)
|
|
|
NM_003073.5(SMARCB1):c.1118+4C>A
|
rs374197835
|
|
NM_003073.5(SMARCB1):c.1119-12C>G
|
rs1295969050
|
|
NM_003073.5(SMARCB1):c.1120C>T (p.Arg374Trp)
|
rs1568963596
|
|
NM_003073.5(SMARCB1):c.1132C>T (p.Leu378Phe)
|
rs2030838981
|
|
NM_003073.5(SMARCB1):c.1142C>G (p.Thr381Arg)
|
rs1387467529
|
|
NM_003073.5(SMARCB1):c.1145C>T (p.Ala382Val)
|
rs756129754
|
|
NM_003073.5(SMARCB1):c.1148C>T (p.Pro383Leu)
|
|
|
NM_003073.5(SMARCB1):c.1155G>C (p.Trp385Cys)
|
rs2030841425
|
|
NM_003073.5(SMARCB1):c.1155G>T (p.Trp385Cys)
|
rs2030841425
|
|
NM_003073.5(SMARCB1):c.119G>A (p.Arg40Gln)
|
rs1928397102
|
|
NM_003073.5(SMARCB1):c.128T>G (p.Leu43Arg)
|
rs1928397303
|
|
NM_003073.5(SMARCB1):c.13G>C (p.Ala5Pro)
|
rs1928040877
|
|
NM_003073.5(SMARCB1):c.13G>T (p.Ala5Ser)
|
|
|
NM_003073.5(SMARCB1):c.143C>T (p.Pro48Leu)
|
rs387906811
|
|
NM_003073.5(SMARCB1):c.146C>T (p.Ser49Leu)
|
|
|
NM_003073.5(SMARCB1):c.148C>G (p.Leu50Val)
|
|
|
NM_003073.5(SMARCB1):c.14C>T (p.Ala5Val)
|
rs1568933235
|
|
NM_003073.5(SMARCB1):c.153G>C (p.Trp51Cys)
|
rs2145960213
|
|
NM_003073.5(SMARCB1):c.158G>A (p.Arg53Gln)
|
|
|
NM_003073.5(SMARCB1):c.169G>A (p.Val57Met)
|
rs922052006
|
|
NM_003073.5(SMARCB1):c.170T>C (p.Val57Ala)
|
|
|
NM_003073.5(SMARCB1):c.185A>T (p.Lys62Ile)
|
rs1928402357
|
|
NM_003073.5(SMARCB1):c.193G>T (p.Ala65Ser)
|
rs1555875920
|
|
NM_003073.5(SMARCB1):c.196T>G (p.Ser66Ala)
|
rs1601388691
|
|
NM_003073.5(SMARCB1):c.197C>T (p.Ser66Leu)
|
|
|
NM_003073.5(SMARCB1):c.1A>C (p.Met1Leu)
|
|
|
NM_003073.5(SMARCB1):c.1ATG[3] (p.Met4del)
|
rs769579890
|
|
NM_003073.5(SMARCB1):c.202C>T (p.His68Tyr)
|
|
|
NM_003073.5(SMARCB1):c.203A>T (p.His68Leu)
|
rs1928403840
|
|
NM_003073.5(SMARCB1):c.205G>A (p.Gly69Ser)
|
rs2145960551
|
|
NM_003073.5(SMARCB1):c.20G>A (p.Ser7Asn)
|
rs1928042033
|
|
NM_003073.5(SMARCB1):c.210A>G (p.Lys70=)
|
|
|
NM_003073.5(SMARCB1):c.213A>C (p.Lys71Asn)
|
|
|
NM_003073.5(SMARCB1):c.223A>G (p.Asn75Asp)
|
rs2145960610
|
|
NM_003073.5(SMARCB1):c.226A>G (p.Thr76Ala)
|
rs2145960619
|
|
NM_003073.5(SMARCB1):c.227C>G (p.Thr76Ser)
|
rs2145960632
|
|
NM_003073.5(SMARCB1):c.22A>G (p.Lys8Glu)
|
rs2145951968
|
|
NM_003073.5(SMARCB1):c.232+4C>T
|
|
|
NM_003073.5(SMARCB1):c.232+5G>A
|
rs1555875932
|
|
NM_003073.5(SMARCB1):c.232G>A (p.Asp78Asn)
|
|
|
NM_003073.5(SMARCB1):c.233-5del
|
rs1928537133
|
|
NM_003073.5(SMARCB1):c.233A>G (p.Asp78Gly)
|
|
|
NM_003073.5(SMARCB1):c.238G>A (p.Gly80Arg)
|
|
|
NM_003073.5(SMARCB1):c.242A>G (p.Tyr81Cys)
|
rs2145963676
|
|
NM_003073.5(SMARCB1):c.244A>C (p.Thr82Pro)
|
rs1053189632
|
|
NM_003073.5(SMARCB1):c.244A>G (p.Thr82Ala)
|
rs1053189632
|
|
NM_003073.5(SMARCB1):c.245C>T (p.Thr82Met)
|
rs1928538526
|
|
NM_003073.5(SMARCB1):c.257C>A (p.Thr86Asn)
|
rs747794500
|
|
NM_003073.5(SMARCB1):c.260G>A (p.Ser87Asn)
|
|
|
NM_003073.5(SMARCB1):c.262G>T (p.Val88Leu)
|
rs1601391025
|
|
NM_003073.5(SMARCB1):c.277G>A (p.Ala93Thr)
|
rs2145963919
|
|
NM_003073.5(SMARCB1):c.278C>T (p.Ala93Val)
|
rs2145963921
|
|
NM_003073.5(SMARCB1):c.283G>A (p.Glu95Lys)
|
rs2145963960
|
|
NM_003073.5(SMARCB1):c.284A>G (p.Glu95Gly)
|
rs1568937129
|
|
NM_003073.5(SMARCB1):c.286G>A (p.Val96Met)
|
|
|
NM_003073.5(SMARCB1):c.301G>A (p.Asp101Asn)
|
rs774488493
|
|
NM_003073.5(SMARCB1):c.301G>C (p.Asp101His)
|
rs774488493
|
|
NM_003073.5(SMARCB1):c.301G>T (p.Asp101Tyr)
|
rs774488493
|
|
NM_003073.5(SMARCB1):c.302A>G (p.Asp101Gly)
|
rs762188226
|
|
NM_003073.5(SMARCB1):c.307A>C (p.Asn103His)
|
rs2145964114
|
|
NM_003073.5(SMARCB1):c.308A>G (p.Asn103Ser)
|
rs1928543301
|
|
NM_003073.5(SMARCB1):c.311A>C (p.Asp104Ala)
|
rs2145964151
|
|
NM_003073.5(SMARCB1):c.314A>G (p.Glu105Gly)
|
rs2145964182
|
|
NM_003073.5(SMARCB1):c.323A>G (p.Lys108Arg)
|
|
|
NM_003073.5(SMARCB1):c.329T>C (p.Val110Ala)
|
rs1601391157
|
|
NM_003073.5(SMARCB1):c.332C>G (p.Ser111Cys)
|
|
|
NM_003073.5(SMARCB1):c.334A>G (p.Ile112Val)
|
rs1928546194
|
|
NM_003073.5(SMARCB1):c.340A>G (p.Thr114Ala)
|
rs750822703
|
|
NM_003073.5(SMARCB1):c.346C>A (p.Pro116Thr)
|
rs1928547553
|
|
NM_003073.5(SMARCB1):c.347C>A (p.Pro116His)
|
|
|
NM_003073.5(SMARCB1):c.347C>T (p.Pro116Leu)
|
|
|
NM_003073.5(SMARCB1):c.352A>C (p.Thr118Pro)
|
rs761082514
|
|
NM_003073.5(SMARCB1):c.35A>G (p.Gln12Arg)
|
|
|
NM_003073.5(SMARCB1):c.362+6G>A
|
|
|
NM_003073.5(SMARCB1):c.363-6C>G
|
|
|
NM_003073.5(SMARCB1):c.374C>T (p.Ala125Val)
|
|
|
NM_003073.5(SMARCB1):c.377A>G (p.Lys126Arg)
|
|
|
NM_003073.5(SMARCB1):c.386G>C (p.Ser129Thr)
|
|
|
NM_003073.5(SMARCB1):c.400A>C (p.Thr134Pro)
|
|
|
NM_003073.5(SMARCB1):c.403C>G (p.Leu135Val)
|
|
|
NM_003073.5(SMARCB1):c.413G>C (p.Ser138Thr)
|
rs1929110548
|
|
NM_003073.5(SMARCB1):c.415T>C (p.Ser139Pro)
|
|
|
NM_003073.5(SMARCB1):c.434T>G (p.Val145Gly)
|
rs1601401889
|
|
NM_003073.5(SMARCB1):c.43G>A (p.Val15Met)
|
|
|
NM_003073.5(SMARCB1):c.440G>A (p.Cys147Tyr)
|
|
|
NM_003073.5(SMARCB1):c.448A>G (p.Thr150Ala)
|
rs745619005
|
|
NM_003073.5(SMARCB1):c.44T>C (p.Val15Ala)
|
rs1928044034
|
|
NM_003073.5(SMARCB1):c.461A>G (p.Asn154Ser)
|
rs1057523475
|
|
NM_003073.5(SMARCB1):c.466A>G (p.Met156Val)
|
rs540120954
|
|
NM_003073.5(SMARCB1):c.467T>C (p.Met156Thr)
|
|
|
NM_003073.5(SMARCB1):c.469G>T (p.Gly157Cys)
|
rs1568941668
|
|
NM_003073.5(SMARCB1):c.473G>A (p.Arg158Gln)
|
|
|
NM_003073.5(SMARCB1):c.473G>T (p.Arg158Leu)
|
rs1232172026
|
|
NM_003073.5(SMARCB1):c.488C>G (p.Thr163Ser)
|
rs2145978836
|
|
NM_003073.5(SMARCB1):c.492C>A (p.Phe164Leu)
|
rs780005225
|
|
NM_003073.5(SMARCB1):c.4A>G (p.Met2Val)
|
rs2145951889
|
|
NM_003073.5(SMARCB1):c.500+2T>C
|
|
|
NM_003073.5(SMARCB1):c.500+3G>A
|
rs1601402006
|
|
NM_003073.5(SMARCB1):c.500+7A>G
|
|
|
NM_003073.5(SMARCB1):c.501C>G (p.Cys167Trp)
|
rs779221331
|
|
NM_003073.5(SMARCB1):c.502T>C (p.Phe168Leu)
|
|
|
NM_003073.5(SMARCB1):c.505G>C (p.Asp169His)
|
|
|
NM_003073.5(SMARCB1):c.508G>A (p.Asp170Asn)
|
rs1568943134
|
|
NM_003073.5(SMARCB1):c.509A>G (p.Asp170Gly)
|
|
|
NM_003073.5(SMARCB1):c.512A>G (p.His171Arg)
|
rs794727718
|
|
NM_003073.5(SMARCB1):c.515A>T (p.Asp172Val)
|
rs2145982695
|
|
NM_003073.5(SMARCB1):c.517C>G (p.Pro173Ala)
|
rs772788649
|
|
NM_003073.5(SMARCB1):c.517C>T (p.Pro173Ser)
|
|
|
NM_003073.5(SMARCB1):c.526A>C (p.Ile176Leu)
|
rs1929285188
|
|
NM_003073.5(SMARCB1):c.526A>G (p.Ile176Val)
|
|
|
NM_003073.5(SMARCB1):c.537C>A (p.Asn179Lys)
|
|
|
NM_003073.5(SMARCB1):c.538G>A (p.Ala180Thr)
|
rs1568943183
|
|
NM_003073.5(SMARCB1):c.538G>T (p.Ala180Ser)
|
|
|
NM_003073.5(SMARCB1):c.539C>T (p.Ala180Val)
|
rs1555877280
|
|
NM_003073.5(SMARCB1):c.546G>T (p.Gln182His)
|
rs1929287151
|
|
NM_003073.5(SMARCB1):c.547C>T (p.Pro183Ser)
|
|
|
NM_003073.5(SMARCB1):c.54G>C (p.Gln18His)
|
rs1220062951
|
|
NM_003073.5(SMARCB1):c.552G>T (p.Glu184Asp)
|
rs2145982835
|
|
NM_003073.5(SMARCB1):c.557T>C (p.Leu186Pro)
|
rs1601405018
|
|
NM_003073.5(SMARCB1):c.559G>T (p.Val187Phe)
|
rs1568943235
|
|
NM_003073.5(SMARCB1):c.562C>T (p.Pro188Ser)
|
rs146210466
|
|
NM_003073.5(SMARCB1):c.565A>G (p.Ile189Val)
|
rs1601405054
|
|
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp)
|
rs1601405064
|
|
NM_003073.5(SMARCB1):c.578T>C (p.Met193Thr)
|
|
|
NM_003073.5(SMARCB1):c.579G>A (p.Met193Ile)
|
rs1929290030
|
|
NM_003073.5(SMARCB1):c.57_74del (p.Glu20_Phe25del)
|
rs2145952071
|
|
NM_003073.5(SMARCB1):c.582G>C (p.Glu194Asp)
|
rs759241720
|
|
NM_003073.5(SMARCB1):c.583A>T (p.Ile195Phe)
|
rs1929290525
|
|
NM_003073.5(SMARCB1):c.585C>G (p.Ile195Met)
|
rs757546528
|
|
NM_003073.5(SMARCB1):c.586_587delinsAT (p.Asp196Ile)
|
|
|
NM_003073.5(SMARCB1):c.599T>G (p.Leu200Arg)
|
|
|
NM_003073.5(SMARCB1):c.59A>C (p.Glu20Ala)
|
rs2145952083
|
|
NM_003073.5(SMARCB1):c.5T>G (p.Met2Arg)
|
|
|
NM_003073.5(SMARCB1):c.613A>T (p.Thr205Ser)
|
rs1555877290
|
|
NM_003073.5(SMARCB1):c.614C>T (p.Thr205Ile)
|
rs2145983068
|
|
NM_003073.5(SMARCB1):c.616T>C (p.Trp206Arg)
|
|
|
NM_003073.5(SMARCB1):c.61G>A (p.Asp21Asn)
|
rs1601382598
|
|
NM_003073.5(SMARCB1):c.622A>G (p.Met208Val)
|
rs1457130071
|
|
NM_003073.5(SMARCB1):c.627T>A (p.Asn209Lys)
|
|
|
NM_003073.5(SMARCB1):c.628+5A>C
|
rs1298640170
|
|
NM_003073.5(SMARCB1):c.629-10C>T
|
|
|
NM_003073.5(SMARCB1):c.62A>G (p.Asp21Gly)
|
rs2145952092
|
|
NM_003073.5(SMARCB1):c.630G>T (p.Glu210Asp)
|
|
|
NM_003073.5(SMARCB1):c.634T>G (p.Leu212Val)
|
|
|
NM_003073.5(SMARCB1):c.637A>T (p.Met213Leu)
|
rs1930218815
|
|
NM_003073.5(SMARCB1):c.641C>G (p.Thr214Arg)
|
rs780906523
|
|
NM_003073.5(SMARCB1):c.641C>T (p.Thr214Met)
|
rs780906523
|
|
NM_003073.5(SMARCB1):c.652T>C (p.Phe218Leu)
|
|
|
NM_003073.5(SMARCB1):c.652T>G (p.Phe218Val)
|
|
|
NM_003073.5(SMARCB1):c.664C>G (p.Leu222Val)
|
|
|
NM_003073.5(SMARCB1):c.665T>C (p.Leu222Pro)
|
|
|
NM_003073.5(SMARCB1):c.668G>A (p.Cys223Tyr)
|
rs1470474620
|
|
NM_003073.5(SMARCB1):c.673G>A (p.Asp225Asn)
|
rs768379745
|
|
NM_003073.5(SMARCB1):c.673G>T (p.Asp225Tyr)
|
rs768379745
|
|
NM_003073.5(SMARCB1):c.67G>A (p.Gly23Ser)
|
rs1287987691
|
|
NM_003073.5(SMARCB1):c.682T>A (p.Leu228Met)
|
|
|
NM_003073.5(SMARCB1):c.689C>A (p.Pro230Gln)
|
|
|
NM_003073.5(SMARCB1):c.689C>T (p.Pro230Leu)
|
rs2146009762
|
|
NM_003073.5(SMARCB1):c.68G>A (p.Gly23Asp)
|
rs1601382621
|
|
NM_003073.5(SMARCB1):c.698T>A (p.Phe233Tyr)
|
|
|
NM_003073.5(SMARCB1):c.6G>A (p.Met2Ile)
|
|
|
NM_003073.5(SMARCB1):c.700G>C (p.Val234Leu)
|
rs1272912695
|
|
NM_003073.5(SMARCB1):c.700G>T (p.Val234Leu)
|
|
|
NM_003073.5(SMARCB1):c.702G>T (p.Val234=)
|
|
|
NM_003073.5(SMARCB1):c.706G>C (p.Ala236Pro)
|
rs1930223455
|
|
NM_003073.5(SMARCB1):c.70G>A (p.Glu24Lys)
|
rs1601382640
|
|
NM_003073.5(SMARCB1):c.710T>G (p.Ile237Ser)
|
rs2146009925
|
|
NM_003073.5(SMARCB1):c.713C>T (p.Ala238Val)
|
rs1060503019
|
|
NM_003073.5(SMARCB1):c.71A>C (p.Glu24Ala)
|
rs2145952118
|
|
NM_003073.5(SMARCB1):c.721A>G (p.Ile241Val)
|
|
|
NM_003073.5(SMARCB1):c.731A>T (p.Gln244Leu)
|
rs763202805
|
|
NM_003073.5(SMARCB1):c.736G>A (p.Glu246Lys)
|
rs1930225458
|
|
NM_003073.5(SMARCB1):c.745C>T (p.Pro249Ser)
|
rs1930226221
|
|
NM_003073.5(SMARCB1):c.748A>G (p.Thr250Ala)
|
|
|
NM_003073.5(SMARCB1):c.74T>C (p.Phe25Ser)
|
rs2145952130
|
|
NM_003073.5(SMARCB1):c.754A>G (p.Ser252Gly)
|
|
|
NM_003073.5(SMARCB1):c.758T>C (p.Ile253Thr)
|
rs2146010326
|
|
NM_003073.5(SMARCB1):c.759C>G (p.Ile253Met)
|
rs889171672
|
|
NM_003073.5(SMARCB1):c.759_761del (p.Ile253_Leu254delinsMet)
|
rs1930227319
|
|
NM_003073.5(SMARCB1):c.765G>C (p.Glu255Asp)
|
|
|
NM_003073.5(SMARCB1):c.769C>A (p.Gln257Lys)
|
|
|
NM_003073.5(SMARCB1):c.771G>C (p.Gln257His)
|
|
|
NM_003073.5(SMARCB1):c.782G>A (p.Arg261His)
|
rs779587990
|
|
NM_003073.5(SMARCB1):c.784G>A (p.Val262Ile)
|
|
|
NM_003073.5(SMARCB1):c.787A>G (p.Ile263Val)
|
|
|
NM_003073.5(SMARCB1):c.790A>C (p.Ile264Leu)
|
rs887245809
|
|
NM_003073.5(SMARCB1):c.790A>T (p.Ile264Phe)
|
rs887245809
|
|
NM_003073.5(SMARCB1):c.795+3A>G
|
rs768344215
|
|
NM_003073.5(SMARCB1):c.795+4G>A
|
rs2146010650
|
|
NM_003073.5(SMARCB1):c.795+5G>A
|
rs199902957
|
|
NM_003073.5(SMARCB1):c.795+5del
|
rs2146010662
|
|
NM_003073.5(SMARCB1):c.79A>C (p.Met27Leu)
|
rs762676176
|
|
NM_003073.5(SMARCB1):c.79A>G (p.Met27Val)
|
rs762676176
|
|
NM_003073.5(SMARCB1):c.80T>G (p.Met27Arg)
|
rs763994045
|
|
NM_003073.5(SMARCB1):c.810G>A (p.Val270=)
|
rs1601433312
|
|
NM_003073.5(SMARCB1):c.820T>G (p.Ser274Ala)
|
|
|
NM_003073.5(SMARCB1):c.825G>A (p.Leu275=)
|
rs2146026700
|
|
NM_003073.5(SMARCB1):c.826G>A (p.Val276Met)
|
rs2030319219
|
|
NM_003073.5(SMARCB1):c.827T>C (p.Val276Ala)
|
rs2030319413
|
|
NM_003073.5(SMARCB1):c.828G>A (p.Val276=)
|
rs1568957579
|
|
NM_003073.5(SMARCB1):c.829G>A (p.Asp277Asn)
|
rs2030319772
|
|
NM_003073.5(SMARCB1):c.82A>G (p.Ile28Val)
|
|
|
NM_003073.5(SMARCB1):c.831C>G (p.Asp277Glu)
|
rs1601433351
|
|
NM_003073.5(SMARCB1):c.836T>G (p.Phe279Cys)
|
rs2030320193
|
|
NM_003073.5(SMARCB1):c.83_84delinsAA (p.Ile28Lys)
|
rs2145952163
|
|
NM_003073.5(SMARCB1):c.845A>G (p.Asp282Gly)
|
rs2030320561
|
|
NM_003073.5(SMARCB1):c.847A>T (p.Met283Leu)
|
|
|
NM_003073.5(SMARCB1):c.849_866dup (p.Ser289_Pro290insSerGluLysGluAsnSer)
|
|
|
NM_003073.5(SMARCB1):c.850T>G (p.Ser284Ala)
|
rs2146026778
|
|
NM_003073.5(SMARCB1):c.856_858del (p.Lys286del)
|
rs1060503020
|
|
NM_003073.5(SMARCB1):c.857A>G (p.Lys286Arg)
|
rs2146026825
|
|
NM_003073.5(SMARCB1):c.859_861del (p.Glu287del)
|
rs2146026831
|
|
NM_003073.5(SMARCB1):c.85G>A (p.Gly29Ser)
|
rs774011967
|
|
NM_003073.5(SMARCB1):c.85G>C (p.Gly29Arg)
|
rs774011967
|
|
NM_003073.5(SMARCB1):c.866C>T (p.Ser289Leu)
|
rs2030322042
|
|
NM_003073.5(SMARCB1):c.868C>G (p.Pro290Ala)
|
rs2030322683
|
|
NM_003073.5(SMARCB1):c.868_870del (p.Pro290del)
|
rs2030322230
|
|
NM_003073.5(SMARCB1):c.880G>A (p.Ala294Thr)
|
rs1555880578
|
|
NM_003073.5(SMARCB1):c.881C>T (p.Ala294Val)
|
rs1555880581
|
|
NM_003073.5(SMARCB1):c.883C>G (p.Leu295Val)
|
|
|
NM_003073.5(SMARCB1):c.894C>G (p.Cys298Trp)
|
rs2030323849
|
|
NM_003073.5(SMARCB1):c.8T>A (p.Met3Lys)
|
|
|
NM_003073.5(SMARCB1):c.90C>T (p.Ser30=)
|
rs761868468
|
|
NM_003073.5(SMARCB1):c.914G>A (p.Gly305Glu)
|
|
|
NM_003073.5(SMARCB1):c.92A>G (p.Glu31Gly)
|
|
|
NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val)
|
rs267607072
|
|
NM_003073.5(SMARCB1):c.93+12C>T
|
|
|
NM_003073.5(SMARCB1):c.93+4G>A
|
|
|
NM_003073.5(SMARCB1):c.93+5C>A
|
|
|
NM_003073.5(SMARCB1):c.93+6C>T
|
rs1928049977
|
|
NM_003073.5(SMARCB1):c.933C>G (p.Ile311Met)
|
|
|
NM_003073.5(SMARCB1):c.934_981del (p.Ala312_Ala327del)
|
rs1601433521
|
|
NM_003073.5(SMARCB1):c.935C>T (p.Ala312Val)
|
rs2030327085
|
|
NM_003073.5(SMARCB1):c.93G>A (p.Glu31=)
|
|
|
NM_003073.5(SMARCB1):c.94-14T>G
|
|
|
NM_003073.5(SMARCB1):c.94-3T>C
|
|
|
NM_003073.5(SMARCB1):c.943A>T (p.Ile315Phe)
|
rs2146027104
|
|
NM_003073.5(SMARCB1):c.946C>G (p.Arg316Gly)
|
|
|
NM_003073.5(SMARCB1):c.953A>G (p.Gln318Arg)
|
|
|
NM_003073.5(SMARCB1):c.961T>A (p.Trp321Arg)
|
rs2146027158
|
|
NM_003073.5(SMARCB1):c.967C>A (p.Gln323Lys)
|
rs1265308124
|
|
NM_003073.5(SMARCB1):c.969G>C (p.Gln323His)
|
|
|
NM_003073.5(SMARCB1):c.975C>G (p.Thr325=)
|
rs774763517
|
|
NM_003073.5(SMARCB1):c.979G>A (p.Ala327Thr)
|
rs1601433577
|
|
NM_003073.5(SMARCB1):c.985A>G (p.Ser329Gly)
|
rs1568957782
|
|
NM_003073.5(SMARCB1):c.986+13A>G
|
|
|
NM_003073.5(SMARCB1):c.986+5G>A
|
|
|
NM_003073.5(SMARCB1):c.986+5G>C
|
|
|
NM_003073.5(SMARCB1):c.986+5G>T
|
rs1555880607
|
|
NM_003073.5(SMARCB1):c.986G>A (p.Ser329Asn)
|
|
|
NM_003073.5(SMARCB1):c.987-12C>G
|
|
|
NM_003073.5(SMARCB1):c.987C>A (p.Ser329Arg)
|
rs137942040
|
|
NM_003073.5(SMARCB1):c.988G>A (p.Glu330Lys)
|
|
|
NM_003073.5(SMARCB1):c.995C>G (p.Pro332Arg)
|
rs2146041698
|
|
NM_003073.5(SMARCB1):c.995C>T (p.Pro332Leu)
|
rs2146041698
|
|
NM_003073.5(SMARCB1):c.9_10delinsTT (p.Met3_Met4delinsIleLeu)
|
|
|