Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.157198813A=CA1675542213ARID1Bc.4226A= (p.His1409=)
c.4295A= (p.His1432=)
c.4514A= (p.His1505=)
c.4265A= (p.His1422=)
c.3977A= (p.His1326=)
c.2543A= (p.His848=)
c.1706A= (p.His569=)
c.1337A= (p.His446=)
n.2848A=
n.305A=
c.4385A= (p.His1462=)
n.2382A=
c.1753A=
c.1667A=
n.1051A=
c.1727A= (p.His576=)
c.1886A= (p.His629=)
c.4016A= (p.His1339=)
c.4136A= (p.His1379=)
c.3215A= (p.His1072=)
c.3035A= (p.His1012=)
c.2795A= (p.His932=)
c.2414A= (p.His805=)
c.1277A= (p.His426=)
c.4346A= (p.His1449=)
c.4247A= (p.His1416=)
c.4217A= (p.His1406=)
c.4187A= (p.His1396=)
c.4058A= (p.His1353=)
c.4037A= (p.His1346=)
n.4427-1892A=
6g.157198813A>CCA366239447ARID1Bc.4226A>C (p.His1409Pro)
c.4295A>C (p.His1432Pro)
c.4514A>C (p.His1505Pro)
c.4265A>C (p.His1422Pro)
c.3977A>C (p.His1326Pro)
c.2543A>C (p.His848Pro)
c.1706A>C (p.His569Pro)
c.1337A>C (p.His446Pro)
n.2848A>C
n.305A>C
c.4385A>C (p.His1462Pro)
n.2382A>C
c.1753A>C
c.1667A>C
n.1051A>C
c.1727A>C (p.His576Pro)
c.1886A>C (p.His629Pro)
c.4016A>C (p.His1339Pro)
c.4136A>C (p.His1379Pro)
c.3215A>C (p.His1072Pro)
c.3035A>C (p.His1012Pro)
c.2795A>C (p.His932Pro)
c.2414A>C (p.His805Pro)
c.1277A>C (p.His426Pro)
c.4346A>C (p.His1449Pro)
c.4247A>C (p.His1416Pro)
c.4217A>C (p.His1406Pro)
c.4187A>C (p.His1396Pro)
c.4058A>C (p.His1353Pro)
c.4037A>C (p.His1346Pro)
n.4427-1892A>C
6g.157198813A>GCA366239444ARID1Bc.4226A>G (p.His1409Arg)
c.4295A>G (p.His1432Arg)
c.4514A>G (p.His1505Arg)
c.4265A>G (p.His1422Arg)
c.3977A>G (p.His1326Arg)
c.2543A>G (p.His848Arg)
c.1706A>G (p.His569Arg)
c.1337A>G (p.His446Arg)
n.2848A>G
n.305A>G
c.4385A>G (p.His1462Arg)
n.2382A>G
c.1753A>G
c.1667A>G
n.1051A>G
c.1727A>G (p.His576Arg)
c.1886A>G (p.His629Arg)
c.4016A>G (p.His1339Arg)
c.4136A>G (p.His1379Arg)
c.3215A>G (p.His1072Arg)
c.3035A>G (p.His1012Arg)
c.2795A>G (p.His932Arg)
c.2414A>G (p.His805Arg)
c.1277A>G (p.His426Arg)
c.4346A>G (p.His1449Arg)
c.4247A>G (p.His1416Arg)
c.4217A>G (p.His1406Arg)
c.4187A>G (p.His1396Arg)
c.4058A>G (p.His1353Arg)
c.4037A>G (p.His1346Arg)
n.4427-1892A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.157198813A>TCA366239443ARID1Bc.4226A>T (p.His1409Leu)
c.4295A>T (p.His1432Leu)
c.4514A>T (p.His1505Leu)
c.4265A>T (p.His1422Leu)
c.3977A>T (p.His1326Leu)
c.2543A>T (p.His848Leu)
c.1706A>T (p.His569Leu)
c.1337A>T (p.His446Leu)
n.2848A>T
n.305A>T
c.4385A>T (p.His1462Leu)
n.2382A>T
c.1753A>T
c.1667A>T
n.1051A>T
c.1727A>T (p.His576Leu)
c.1886A>T (p.His629Leu)
c.4016A>T (p.His1339Leu)
c.4136A>T (p.His1379Leu)
c.3215A>T (p.His1072Leu)
c.3035A>T (p.His1012Leu)
c.2795A>T (p.His932Leu)
c.2414A>T (p.His805Leu)
c.1277A>T (p.His426Leu)
c.4346A>T (p.His1449Leu)
c.4247A>T (p.His1416Leu)
c.4217A>T (p.His1406Leu)
c.4187A>T (p.His1396Leu)
c.4058A>T (p.His1353Leu)
c.4037A>T (p.His1346Leu)
n.4427-1892A>T
dbSNP
6g.157198814T>ACA366239450ARID1Bc.4227T>A (p.His1409Gln)
c.4296T>A (p.His1432Gln)
c.4515T>A (p.His1505Gln)
c.4266T>A (p.His1422Gln)
c.3978T>A (p.His1326Gln)
c.2544T>A (p.His848Gln)
c.1707T>A (p.His569Gln)
c.1338T>A (p.His446Gln)
n.2849T>A
n.306T>A
c.4386T>A (p.His1462Gln)
n.2383T>A
c.1754T>A
c.1668T>A
n.1052T>A
c.1728T>A (p.His576Gln)
c.1887T>A (p.His629Gln)
c.4017T>A (p.His1339Gln)
c.4137T>A (p.His1379Gln)
c.3216T>A (p.His1072Gln)
c.3036T>A (p.His1012Gln)
c.2796T>A (p.His932Gln)
c.2415T>A (p.His805Gln)
c.1278T>A (p.His426Gln)
c.4347T>A (p.His1449Gln)
c.4248T>A (p.His1416Gln)
c.4218T>A (p.His1406Gln)
c.4188T>A (p.His1396Gln)
c.4059T>A (p.His1353Gln)
c.4038T>A (p.His1346Gln)
n.4427-1891T>A
6g.157198814T>CCA452783908ARID1Bc.4227T>C (p.His1409=)
c.4296T>C (p.His1432=)
c.4515T>C (p.His1505=)
c.4266T>C (p.His1422=)
c.3978T>C (p.His1326=)
c.2544T>C (p.His848=)
c.1707T>C (p.His569=)
c.1338T>C (p.His446=)
n.2849T>C
n.306T>C
c.4386T>C (p.His1462=)
n.2383T>C
c.1754T>C
c.1668T>C
n.1052T>C
c.1728T>C (p.His576=)
c.1887T>C (p.His629=)
c.4017T>C (p.His1339=)
c.4137T>C (p.His1379=)
c.3216T>C (p.His1072=)
c.3036T>C (p.His1012=)
c.2796T>C (p.His932=)
c.2415T>C (p.His805=)
c.1278T>C (p.His426=)
c.4347T>C (p.His1449=)
c.4248T>C (p.His1416=)
c.4218T>C (p.His1406=)
c.4188T>C (p.His1396=)
c.4059T>C (p.His1353=)
c.4038T>C (p.His1346=)
n.4427-1891T>C
gnomAD v4
6g.157198814T>GCA150368542ARID1Bc.4227T>G (p.His1409Gln)
c.4296T>G (p.His1432Gln)
c.4515T>G (p.His1505Gln)
c.4266T>G (p.His1422Gln)
c.3978T>G (p.His1326Gln)
c.2544T>G (p.His848Gln)
c.1707T>G (p.His569Gln)
c.1338T>G (p.His446Gln)
n.2849T>G
n.306T>G
c.4386T>G (p.His1462Gln)
n.2383T>G
c.1754T>G
c.1668T>G
n.1052T>G
c.1728T>G (p.His576Gln)
c.1887T>G (p.His629Gln)
c.4017T>G (p.His1339Gln)
c.4137T>G (p.His1379Gln)
c.3216T>G (p.His1072Gln)
c.3036T>G (p.His1012Gln)
c.2796T>G (p.His932Gln)
c.2415T>G (p.His805Gln)
c.1278T>G (p.His426Gln)
c.4347T>G (p.His1449Gln)
c.4248T>G (p.His1416Gln)
c.4218T>G (p.His1406Gln)
c.4188T>G (p.His1396Gln)
c.4059T>G (p.His1353Gln)
c.4038T>G (p.His1346Gln)
n.4427-1891T>G
dbSNP gnomAD v3 gnomAD v4
6g.157198814T=CA1675542214ARID1Bc.4227T= (p.His1409=)
c.4296T= (p.His1432=)
c.4515T= (p.His1505=)
c.4266T= (p.His1422=)
c.3978T= (p.His1326=)
c.2544T= (p.His848=)
c.1707T= (p.His569=)
c.1338T= (p.His446=)
n.2849T=
n.306T=
c.4386T= (p.His1462=)
n.2383T=
c.1754T=
c.1668T=
n.1052T=
c.1728T= (p.His576=)
c.1887T= (p.His629=)
c.4017T= (p.His1339=)
c.4137T= (p.His1379=)
c.3216T= (p.His1072=)
c.3036T= (p.His1012=)
c.2796T= (p.His932=)
c.2415T= (p.His805=)
c.1278T= (p.His426=)
c.4347T= (p.His1449=)
c.4248T= (p.His1416=)
c.4218T= (p.His1406=)
c.4188T= (p.His1396=)
c.4059T= (p.His1353=)
c.4038T= (p.His1346=)
n.4427-1891T=
6g.157198815G>ACA366239455ARID1Bc.4228G>A (p.Glu1410Lys)
c.4297G>A (p.Glu1433Lys)
c.4516G>A (p.Glu1506Lys)
c.4267G>A (p.Glu1423Lys)
c.3979G>A (p.Glu1327Lys)
c.2545G>A (p.Glu849Lys)
c.1708G>A (p.Glu570Lys)
c.1339G>A (p.Glu447Lys)
n.2850G>A
n.307G>A
c.4387G>A (p.Glu1463Lys)
n.2384G>A
c.1755G>A
c.1669G>A
n.1053G>A
c.1729G>A (p.Glu577Lys)
c.1888G>A (p.Glu630Lys)
c.4018G>A (p.Glu1340Lys)
c.4138G>A (p.Glu1380Lys)
c.3217G>A (p.Glu1073Lys)
c.3037G>A (p.Glu1013Lys)
c.2797G>A (p.Glu933Lys)
c.2416G>A (p.Glu806Lys)
c.1279G>A (p.Glu427Lys)
c.4348G>A (p.Glu1450Lys)
c.4249G>A (p.Glu1417Lys)
c.4219G>A (p.Glu1407Lys)
c.4189G>A (p.Glu1397Lys)
c.4060G>A (p.Glu1354Lys)
c.4039G>A (p.Glu1347Lys)
n.4427-1890G>A
6g.157198815G>CCA366239456ARID1Bc.4228G>C (p.Glu1410Gln)
c.4297G>C (p.Glu1433Gln)
c.4516G>C (p.Glu1506Gln)
c.4267G>C (p.Glu1423Gln)
c.3979G>C (p.Glu1327Gln)
c.2545G>C (p.Glu849Gln)
c.1708G>C (p.Glu570Gln)
c.1339G>C (p.Glu447Gln)
n.2850G>C
n.307G>C
c.4387G>C (p.Glu1463Gln)
n.2384G>C
c.1755G>C
c.1669G>C
n.1053G>C
c.1729G>C (p.Glu577Gln)
c.1888G>C (p.Glu630Gln)
c.4018G>C (p.Glu1340Gln)
c.4138G>C (p.Glu1380Gln)
c.3217G>C (p.Glu1073Gln)
c.3037G>C (p.Glu1013Gln)
c.2797G>C (p.Glu933Gln)
c.2416G>C (p.Glu806Gln)
c.1279G>C (p.Glu427Gln)
c.4348G>C (p.Glu1450Gln)
c.4249G>C (p.Glu1417Gln)
c.4219G>C (p.Glu1407Gln)
c.4189G>C (p.Glu1397Gln)
c.4060G>C (p.Glu1354Gln)
c.4039G>C (p.Glu1347Gln)
n.4427-1890G>C
dbSNP
6g.157198815G=CA1675542215ARID1Bc.4228G= (p.Glu1410=)
c.4297G= (p.Glu1433=)
c.4516G= (p.Glu1506=)
c.4267G= (p.Glu1423=)
c.3979G= (p.Glu1327=)
c.2545G= (p.Glu849=)
c.1708G= (p.Glu570=)
c.1339G= (p.Glu447=)
n.2850G=
n.307G=
c.4387G= (p.Glu1463=)
n.2384G=
c.1755G=
c.1669G=
n.1053G=
c.1729G= (p.Glu577=)
c.1888G= (p.Glu630=)
c.4018G= (p.Glu1340=)
c.4138G= (p.Glu1380=)
c.3217G= (p.Glu1073=)
c.3037G= (p.Glu1013=)
c.2797G= (p.Glu933=)
c.2416G= (p.Glu806=)
c.1279G= (p.Glu427=)
c.4348G= (p.Glu1450=)
c.4249G= (p.Glu1417=)
c.4219G= (p.Glu1407=)
c.4189G= (p.Glu1397=)
c.4060G= (p.Glu1354=)
c.4039G= (p.Glu1347=)
n.4427-1890G=
6g.157198815G>TCA366239460ARID1Bc.4228G>T (p.Glu1410Ter)
c.4297G>T (p.Glu1433Ter)
c.4516G>T (p.Glu1506Ter)
c.4267G>T (p.Glu1423Ter)
c.3979G>T (p.Glu1327Ter)
c.2545G>T (p.Glu849Ter)
c.1708G>T (p.Glu570Ter)
c.1339G>T (p.Glu447Ter)
n.2850G>T
n.307G>T
c.4387G>T (p.Glu1463Ter)
n.2384G>T
c.1755G>T
c.1669G>T
n.1053G>T
c.1729G>T (p.Glu577Ter)
c.1888G>T (p.Glu630Ter)
c.4018G>T (p.Glu1340Ter)
c.4138G>T (p.Glu1380Ter)
c.3217G>T (p.Glu1073Ter)
c.3037G>T (p.Glu1013Ter)
c.2797G>T (p.Glu933Ter)
c.2416G>T (p.Glu806Ter)
c.1279G>T (p.Glu427Ter)
c.4348G>T (p.Glu1450Ter)
c.4249G>T (p.Glu1417Ter)
c.4219G>T (p.Glu1407Ter)
c.4189G>T (p.Glu1397Ter)
c.4060G>T (p.Glu1354Ter)
c.4039G>T (p.Glu1347Ter)
n.4427-1890G>T
dbSNP
6g.157198816A>CCA366239470ARID1Bc.4229A>C (p.Glu1410Ala)
c.4298A>C (p.Glu1433Ala)
c.4517A>C (p.Glu1506Ala)
c.4268A>C (p.Glu1423Ala)
c.3980A>C (p.Glu1327Ala)
c.2546A>C (p.Glu849Ala)
c.1709A>C (p.Glu570Ala)
c.1340A>C (p.Glu447Ala)
n.2851A>C
n.308A>C
c.4388A>C (p.Glu1463Ala)
n.2385A>C
c.1756A>C
c.1670A>C
n.1054A>C
c.1730A>C (p.Glu577Ala)
c.1889A>C (p.Glu630Ala)
c.4019A>C (p.Glu1340Ala)
c.4139A>C (p.Glu1380Ala)
c.3218A>C (p.Glu1073Ala)
c.3038A>C (p.Glu1013Ala)
c.2798A>C (p.Glu933Ala)
c.2417A>C (p.Glu806Ala)
c.1280A>C (p.Glu427Ala)
c.4349A>C (p.Glu1450Ala)
c.4250A>C (p.Glu1417Ala)
c.4220A>C (p.Glu1407Ala)
c.4190A>C (p.Glu1397Ala)
c.4061A>C (p.Glu1354Ala)
c.4040A>C (p.Glu1347Ala)
n.4427-1889A>C
6g.157198816A>GCA366239472ARID1Bc.4229A>G (p.Glu1410Gly)
c.4298A>G (p.Glu1433Gly)
c.4517A>G (p.Glu1506Gly)
c.4268A>G (p.Glu1423Gly)
c.3980A>G (p.Glu1327Gly)
c.2546A>G (p.Glu849Gly)
c.1709A>G (p.Glu570Gly)
c.1340A>G (p.Glu447Gly)
n.2851A>G
n.308A>G
c.4388A>G (p.Glu1463Gly)
n.2385A>G
c.1756A>G
c.1670A>G
n.1054A>G
c.1730A>G (p.Glu577Gly)
c.1889A>G (p.Glu630Gly)
c.4019A>G (p.Glu1340Gly)
c.4139A>G (p.Glu1380Gly)
c.3218A>G (p.Glu1073Gly)
c.3038A>G (p.Glu1013Gly)
c.2798A>G (p.Glu933Gly)
c.2417A>G (p.Glu806Gly)
c.1280A>G (p.Glu427Gly)
c.4349A>G (p.Glu1450Gly)
c.4250A>G (p.Glu1417Gly)
c.4220A>G (p.Glu1407Gly)
c.4190A>G (p.Glu1397Gly)
c.4061A>G (p.Glu1354Gly)
c.4040A>G (p.Glu1347Gly)
n.4427-1889A>G
6g.157198816A>TCA366239476ARID1Bc.4229A>T (p.Glu1410Val)
c.4298A>T (p.Glu1433Val)
c.4517A>T (p.Glu1506Val)
c.4268A>T (p.Glu1423Val)
c.3980A>T (p.Glu1327Val)
c.2546A>T (p.Glu849Val)
c.1709A>T (p.Glu570Val)
c.1340A>T (p.Glu447Val)
n.2851A>T
n.308A>T
c.4388A>T (p.Glu1463Val)
n.2385A>T
c.1756A>T
c.1670A>T
n.1054A>T
c.1730A>T (p.Glu577Val)
c.1889A>T (p.Glu630Val)
c.4019A>T (p.Glu1340Val)
c.4139A>T (p.Glu1380Val)
c.3218A>T (p.Glu1073Val)
c.3038A>T (p.Glu1013Val)
c.2798A>T (p.Glu933Val)
c.2417A>T (p.Glu806Val)
c.1280A>T (p.Glu427Val)
c.4349A>T (p.Glu1450Val)
c.4250A>T (p.Glu1417Val)
c.4220A>T (p.Glu1407Val)
c.4190A>T (p.Glu1397Val)
c.4061A>T (p.Glu1354Val)
c.4040A>T (p.Glu1347Val)
n.4427-1889A>T
dbSNP
6g.157198817A>CCA366239482ARID1Bc.4230A>C (p.Glu1410Asp)
c.4299A>C (p.Glu1433Asp)
c.4518A>C (p.Glu1506Asp)
c.4269A>C (p.Glu1423Asp)
c.3981A>C (p.Glu1327Asp)
c.2547A>C (p.Glu849Asp)
c.1710A>C (p.Glu570Asp)
c.1341A>C (p.Glu447Asp)
n.2852A>C
n.309A>C
c.4389A>C (p.Glu1463Asp)
n.2386A>C
c.1757A>C
c.1671A>C
n.1055A>C
c.1731A>C (p.Glu577Asp)
c.1890A>C (p.Glu630Asp)
c.4020A>C (p.Glu1340Asp)
c.4140A>C (p.Glu1380Asp)
c.3219A>C (p.Glu1073Asp)
c.3039A>C (p.Glu1013Asp)
c.2799A>C (p.Glu933Asp)
c.2418A>C (p.Glu806Asp)
c.1281A>C (p.Glu427Asp)
c.4350A>C (p.Glu1450Asp)
c.4251A>C (p.Glu1417Asp)
c.4221A>C (p.Glu1407Asp)
c.4191A>C (p.Glu1397Asp)
c.4062A>C (p.Glu1354Asp)
c.4041A>C (p.Glu1347Asp)
n.4427-1888A>C
6g.157198817A>GCA452783909ARID1Bc.4230A>G (p.Glu1410=)
c.4299A>G (p.Glu1433=)
c.4518A>G (p.Glu1506=)
c.4269A>G (p.Glu1423=)
c.3981A>G (p.Glu1327=)
c.2547A>G (p.Glu849=)
c.1710A>G (p.Glu570=)
c.1341A>G (p.Glu447=)
n.2852A>G
n.309A>G
c.4389A>G (p.Glu1463=)
n.2386A>G
c.1757A>G
c.1671A>G
n.1055A>G
c.1731A>G (p.Glu577=)
c.1890A>G (p.Glu630=)
c.4020A>G (p.Glu1340=)
c.4140A>G (p.Glu1380=)
c.3219A>G (p.Glu1073=)
c.3039A>G (p.Glu1013=)
c.2799A>G (p.Glu933=)
c.2418A>G (p.Glu806=)
c.1281A>G (p.Glu427=)
c.4350A>G (p.Glu1450=)
c.4251A>G (p.Glu1417=)
c.4221A>G (p.Glu1407=)
c.4191A>G (p.Glu1397=)
c.4062A>G (p.Glu1354=)
c.4041A>G (p.Glu1347=)
n.4427-1888A>G
6g.157198817A>TCA366239483ARID1Bc.4230A>T (p.Glu1410Asp)
c.4299A>T (p.Glu1433Asp)
c.4518A>T (p.Glu1506Asp)
c.4269A>T (p.Glu1423Asp)
c.3981A>T (p.Glu1327Asp)
c.2547A>T (p.Glu849Asp)
c.1710A>T (p.Glu570Asp)
c.1341A>T (p.Glu447Asp)
n.2852A>T
n.309A>T
c.4389A>T (p.Glu1463Asp)
n.2386A>T
c.1757A>T
c.1671A>T
n.1055A>T
c.1731A>T (p.Glu577Asp)
c.1890A>T (p.Glu630Asp)
c.4020A>T (p.Glu1340Asp)
c.4140A>T (p.Glu1380Asp)
c.3219A>T (p.Glu1073Asp)
c.3039A>T (p.Glu1013Asp)
c.2799A>T (p.Glu933Asp)
c.2418A>T (p.Glu806Asp)
c.1281A>T (p.Glu427Asp)
c.4350A>T (p.Glu1450Asp)
c.4251A>T (p.Glu1417Asp)
c.4221A>T (p.Glu1407Asp)
c.4191A>T (p.Glu1397Asp)
c.4062A>T (p.Glu1354Asp)
c.4041A>T (p.Glu1347Asp)
n.4427-1888A>T
dbSNP
6g.157198818C>ACA366239484ARID1Bc.4231C>A (p.Pro1411Thr)
c.4300C>A (p.Pro1434Thr)
c.4519C>A (p.Pro1507Thr)
c.4270C>A (p.Pro1424Thr)
c.3982C>A (p.Pro1328Thr)
c.2548C>A (p.Pro850Thr)
c.1711C>A (p.Pro571Thr)
c.1342C>A (p.Pro448Thr)
n.2853C>A
n.310C>A
c.4390C>A (p.Pro1464Thr)
n.2387C>A
c.1758C>A
c.1672C>A
n.1056C>A
c.1732C>A (p.Pro578Thr)
c.1891C>A (p.Pro631Thr)
c.4021C>A (p.Pro1341Thr)
c.4141C>A (p.Pro1381Thr)
c.3220C>A (p.Pro1074Thr)
c.3040C>A (p.Pro1014Thr)
c.2800C>A (p.Pro934Thr)
c.2419C>A (p.Pro807Thr)
c.1282C>A (p.Pro428Thr)
c.4351C>A (p.Pro1451Thr)
c.4252C>A (p.Pro1418Thr)
c.4222C>A (p.Pro1408Thr)
c.4192C>A (p.Pro1398Thr)
c.4063C>A (p.Pro1355Thr)
c.4042C>A (p.Pro1348Thr)
n.4427-1887C>A
dbSNP gnomAD v4
6g.157198818C=CA1675542216ARID1Bc.4231C= (p.Pro1411=)
c.4300C= (p.Pro1434=)
c.4519C= (p.Pro1507=)
c.4270C= (p.Pro1424=)
c.3982C= (p.Pro1328=)
c.2548C= (p.Pro850=)
c.1711C= (p.Pro571=)
c.1342C= (p.Pro448=)
n.2853C=
n.310C=
c.4390C= (p.Pro1464=)
n.2387C=
c.1758C=
c.1672C=
n.1056C=
c.1732C= (p.Pro578=)
c.1891C= (p.Pro631=)
c.4021C= (p.Pro1341=)
c.4141C= (p.Pro1381=)
c.3220C= (p.Pro1074=)
c.3040C= (p.Pro1014=)
c.2800C= (p.Pro934=)
c.2419C= (p.Pro807=)
c.1282C= (p.Pro428=)
c.4351C= (p.Pro1451=)
c.4252C= (p.Pro1418=)
c.4222C= (p.Pro1408=)
c.4192C= (p.Pro1398=)
c.4063C= (p.Pro1355=)
c.4042C= (p.Pro1348=)
n.4427-1887C=
6g.157198818C>GCA366239486ARID1Bc.4231C>G (p.Pro1411Ala)
c.4300C>G (p.Pro1434Ala)
c.4519C>G (p.Pro1507Ala)
c.4270C>G (p.Pro1424Ala)
c.3982C>G (p.Pro1328Ala)
c.2548C>G (p.Pro850Ala)
c.1711C>G (p.Pro571Ala)
c.1342C>G (p.Pro448Ala)
n.2853C>G
n.310C>G
c.4390C>G (p.Pro1464Ala)
n.2387C>G
c.1758C>G
c.1672C>G
n.1056C>G
c.1732C>G (p.Pro578Ala)
c.1891C>G (p.Pro631Ala)
c.4021C>G (p.Pro1341Ala)
c.4141C>G (p.Pro1381Ala)
c.3220C>G (p.Pro1074Ala)
c.3040C>G (p.Pro1014Ala)
c.2800C>G (p.Pro934Ala)
c.2419C>G (p.Pro807Ala)
c.1282C>G (p.Pro428Ala)
c.4351C>G (p.Pro1451Ala)
c.4252C>G (p.Pro1418Ala)
c.4222C>G (p.Pro1408Ala)
c.4192C>G (p.Pro1398Ala)
c.4063C>G (p.Pro1355Ala)
c.4042C>G (p.Pro1348Ala)
n.4427-1887C>G
dbSNP
6g.157198818C>TCA366239490ARID1Bc.4231C>T (p.Pro1411Ser)
c.4300C>T (p.Pro1434Ser)
c.4519C>T (p.Pro1507Ser)
c.4270C>T (p.Pro1424Ser)
c.3982C>T (p.Pro1328Ser)
c.2548C>T (p.Pro850Ser)
c.1711C>T (p.Pro571Ser)
c.1342C>T (p.Pro448Ser)
n.2853C>T
n.310C>T
c.4390C>T (p.Pro1464Ser)
n.2387C>T
c.1758C>T
c.1672C>T
n.1056C>T
c.1732C>T (p.Pro578Ser)
c.1891C>T (p.Pro631Ser)
c.4021C>T (p.Pro1341Ser)
c.4141C>T (p.Pro1381Ser)
c.3220C>T (p.Pro1074Ser)
c.3040C>T (p.Pro1014Ser)
c.2800C>T (p.Pro934Ser)
c.2419C>T (p.Pro807Ser)
c.1282C>T (p.Pro428Ser)
c.4351C>T (p.Pro1451Ser)
c.4252C>T (p.Pro1418Ser)
c.4222C>T (p.Pro1408Ser)
c.4192C>T (p.Pro1398Ser)
c.4063C>T (p.Pro1355Ser)
c.4042C>T (p.Pro1348Ser)
n.4427-1887C>T
dbSNP
6g.157198819C>ACA366239492ARID1Bc.4232C>A (p.Pro1411His)
c.4301C>A (p.Pro1434His)
c.4520C>A (p.Pro1507His)
c.4271C>A (p.Pro1424His)
c.3983C>A (p.Pro1328His)
c.2549C>A (p.Pro850His)
c.1712C>A (p.Pro571His)
c.1343C>A (p.Pro448His)
n.2854C>A
n.311C>A
c.4391C>A (p.Pro1464His)
n.2388C>A
c.1759C>A
c.1673C>A
n.1057C>A
c.1733C>A (p.Pro578His)
c.1892C>A (p.Pro631His)
c.4022C>A (p.Pro1341His)
c.4142C>A (p.Pro1381His)
c.3221C>A (p.Pro1074His)
c.3041C>A (p.Pro1014His)
c.2801C>A (p.Pro934His)
c.2420C>A (p.Pro807His)
c.1283C>A (p.Pro428His)
c.4352C>A (p.Pro1451His)
c.4253C>A (p.Pro1418His)
c.4223C>A (p.Pro1408His)
c.4193C>A (p.Pro1398His)
c.4064C>A (p.Pro1355His)
c.4043C>A (p.Pro1348His)
n.4427-1886C>A
6g.157198819C=CA1675542217ARID1Bc.4232C= (p.Pro1411=)
c.4301C= (p.Pro1434=)
c.4520C= (p.Pro1507=)
c.4271C= (p.Pro1424=)
c.3983C= (p.Pro1328=)
c.2549C= (p.Pro850=)
c.1712C= (p.Pro571=)
c.1343C= (p.Pro448=)
n.2854C=
n.311C=
c.4391C= (p.Pro1464=)
n.2388C=
c.1759C=
c.1673C=
n.1057C=
c.1733C= (p.Pro578=)
c.1892C= (p.Pro631=)
c.4022C= (p.Pro1341=)
c.4142C= (p.Pro1381=)
c.3221C= (p.Pro1074=)
c.3041C= (p.Pro1014=)
c.2801C= (p.Pro934=)
c.2420C= (p.Pro807=)
c.1283C= (p.Pro428=)
c.4352C= (p.Pro1451=)
c.4253C= (p.Pro1418=)
c.4223C= (p.Pro1408=)
c.4193C= (p.Pro1398=)
c.4064C= (p.Pro1355=)
c.4043C= (p.Pro1348=)
n.4427-1886C=
6g.157198819C>GCA366239501ARID1Bc.4232C>G (p.Pro1411Arg)
c.4301C>G (p.Pro1434Arg)
c.4520C>G (p.Pro1507Arg)
c.4271C>G (p.Pro1424Arg)
c.3983C>G (p.Pro1328Arg)
c.2549C>G (p.Pro850Arg)
c.1712C>G (p.Pro571Arg)
c.1343C>G (p.Pro448Arg)
n.2854C>G
n.311C>G
c.4391C>G (p.Pro1464Arg)
n.2388C>G
c.1759C>G
c.1673C>G
n.1057C>G
c.1733C>G (p.Pro578Arg)
c.1892C>G (p.Pro631Arg)
c.4022C>G (p.Pro1341Arg)
c.4142C>G (p.Pro1381Arg)
c.3221C>G (p.Pro1074Arg)
c.3041C>G (p.Pro1014Arg)
c.2801C>G (p.Pro934Arg)
c.2420C>G (p.Pro807Arg)
c.1283C>G (p.Pro428Arg)
c.4352C>G (p.Pro1451Arg)
c.4253C>G (p.Pro1418Arg)
c.4223C>G (p.Pro1408Arg)
c.4193C>G (p.Pro1398Arg)
c.4064C>G (p.Pro1355Arg)
c.4043C>G (p.Pro1348Arg)
n.4427-1886C>G
ClinVar
6g.157198819C>TCA366239494ARID1Bc.4232C>T (p.Pro1411Leu)
c.4301C>T (p.Pro1434Leu)
c.4520C>T (p.Pro1507Leu)
c.4271C>T (p.Pro1424Leu)
c.3983C>T (p.Pro1328Leu)
c.2549C>T (p.Pro850Leu)
c.1712C>T (p.Pro571Leu)
c.1343C>T (p.Pro448Leu)
n.2854C>T
n.311C>T
c.4391C>T (p.Pro1464Leu)
n.2388C>T
c.1759C>T
c.1673C>T
n.1057C>T
c.1733C>T (p.Pro578Leu)
c.1892C>T (p.Pro631Leu)
c.4022C>T (p.Pro1341Leu)
c.4142C>T (p.Pro1381Leu)
c.3221C>T (p.Pro1074Leu)
c.3041C>T (p.Pro1014Leu)
c.2801C>T (p.Pro934Leu)
c.2420C>T (p.Pro807Leu)
c.1283C>T (p.Pro428Leu)
c.4352C>T (p.Pro1451Leu)
c.4253C>T (p.Pro1418Leu)
c.4223C>T (p.Pro1408Leu)
c.4193C>T (p.Pro1398Leu)
c.4064C>T (p.Pro1355Leu)
c.4043C>T (p.Pro1348Leu)
n.4427-1886C>T
dbSNP gnomAD v2 gnomAD v4
6g.157198820T>ACA452783913ARID1Bc.4233T>A (p.Pro1411=)
c.4302T>A (p.Pro1434=)
c.4521T>A (p.Pro1507=)
c.4272T>A (p.Pro1424=)
c.3984T>A (p.Pro1328=)
c.2550T>A (p.Pro850=)
c.1713T>A (p.Pro571=)
c.1344T>A (p.Pro448=)
n.2855T>A
n.312T>A
c.4392T>A (p.Pro1464=)
n.2389T>A
c.1760T>A
c.1674T>A
n.1058T>A
c.1734T>A (p.Pro578=)
c.1893T>A (p.Pro631=)
c.4023T>A (p.Pro1341=)
c.4143T>A (p.Pro1381=)
c.3222T>A (p.Pro1074=)
c.3042T>A (p.Pro1014=)
c.2802T>A (p.Pro934=)
c.2421T>A (p.Pro807=)
c.1284T>A (p.Pro428=)
c.4353T>A (p.Pro1451=)
c.4254T>A (p.Pro1418=)
c.4224T>A (p.Pro1408=)
c.4194T>A (p.Pro1398=)
c.4065T>A (p.Pro1355=)
c.4044T>A (p.Pro1348=)
n.4427-1885T>A
6g.157198820T>CCA452783914ARID1Bc.4233T>C (p.Pro1411=)
c.4302T>C (p.Pro1434=)
c.4521T>C (p.Pro1507=)
c.4272T>C (p.Pro1424=)
c.3984T>C (p.Pro1328=)
c.2550T>C (p.Pro850=)
c.1713T>C (p.Pro571=)
c.1344T>C (p.Pro448=)
n.2855T>C
n.312T>C
c.4392T>C (p.Pro1464=)
n.2389T>C
c.1760T>C
c.1674T>C
n.1058T>C
c.1734T>C (p.Pro578=)
c.1893T>C (p.Pro631=)
c.4023T>C (p.Pro1341=)
c.4143T>C (p.Pro1381=)
c.3222T>C (p.Pro1074=)
c.3042T>C (p.Pro1014=)
c.2802T>C (p.Pro934=)
c.2421T>C (p.Pro807=)
c.1284T>C (p.Pro428=)
c.4353T>C (p.Pro1451=)
c.4254T>C (p.Pro1418=)
c.4224T>C (p.Pro1408=)
c.4194T>C (p.Pro1398=)
c.4065T>C (p.Pro1355=)
c.4044T>C (p.Pro1348=)
n.4427-1885T>C
6g.157198820T>GCA452783915ARID1Bc.4233T>G (p.Pro1411=)
c.4302T>G (p.Pro1434=)
c.4521T>G (p.Pro1507=)
c.4272T>G (p.Pro1424=)
c.3984T>G (p.Pro1328=)
c.2550T>G (p.Pro850=)
c.1713T>G (p.Pro571=)
c.1344T>G (p.Pro448=)
n.2855T>G
n.312T>G
c.4392T>G (p.Pro1464=)
n.2389T>G
c.1760T>G
c.1674T>G
n.1058T>G
c.1734T>G (p.Pro578=)
c.1893T>G (p.Pro631=)
c.4023T>G (p.Pro1341=)
c.4143T>G (p.Pro1381=)
c.3222T>G (p.Pro1074=)
c.3042T>G (p.Pro1014=)
c.2802T>G (p.Pro934=)
c.2421T>G (p.Pro807=)
c.1284T>G (p.Pro428=)
c.4353T>G (p.Pro1451=)
c.4254T>G (p.Pro1418=)
c.4224T>G (p.Pro1408=)
c.4194T>G (p.Pro1398=)
c.4065T>G (p.Pro1355=)
c.4044T>G (p.Pro1348=)
n.4427-1885T>G
6g.157198821T>ACA366239504ARID1Bc.4234T>A (p.Tyr1412Asn)
c.4303T>A (p.Tyr1435Asn)
c.4522T>A (p.Tyr1508Asn)
c.4273T>A (p.Tyr1425Asn)
c.3985T>A (p.Tyr1329Asn)
c.2551T>A (p.Tyr851Asn)
c.1714T>A (p.Tyr572Asn)
c.1345T>A (p.Tyr449Asn)
n.2856T>A
n.313T>A
c.4393T>A (p.Tyr1465Asn)
n.2390T>A
c.1761T>A
c.1675T>A
n.1059T>A
c.1735T>A (p.Tyr579Asn)
c.1894T>A (p.Tyr632Asn)
c.4024T>A (p.Tyr1342Asn)
c.4144T>A (p.Tyr1382Asn)
c.3223T>A (p.Tyr1075Asn)
c.3043T>A (p.Tyr1015Asn)
c.2803T>A (p.Tyr935Asn)
c.2422T>A (p.Tyr808Asn)
c.1285T>A (p.Tyr429Asn)
c.4354T>A (p.Tyr1452Asn)
c.4255T>A (p.Tyr1419Asn)
c.4225T>A (p.Tyr1409Asn)
c.4195T>A (p.Tyr1399Asn)
c.4066T>A (p.Tyr1356Asn)
c.4045T>A (p.Tyr1349Asn)
n.4427-1884T>A
dbSNP
6g.157198821T>CCA366239505ARID1Bc.4234T>C (p.Tyr1412His)
c.4303T>C (p.Tyr1435His)
c.4522T>C (p.Tyr1508His)
c.4273T>C (p.Tyr1425His)
c.3985T>C (p.Tyr1329His)
c.2551T>C (p.Tyr851His)
c.1714T>C (p.Tyr572His)
c.1345T>C (p.Tyr449His)
n.2856T>C
n.313T>C
c.4393T>C (p.Tyr1465His)
n.2390T>C
c.1761T>C
c.1675T>C
n.1059T>C
c.1735T>C (p.Tyr579His)
c.1894T>C (p.Tyr632His)
c.4024T>C (p.Tyr1342His)
c.4144T>C (p.Tyr1382His)
c.3223T>C (p.Tyr1075His)
c.3043T>C (p.Tyr1015His)
c.2803T>C (p.Tyr935His)
c.2422T>C (p.Tyr808His)
c.1285T>C (p.Tyr429His)
c.4354T>C (p.Tyr1452His)
c.4255T>C (p.Tyr1419His)
c.4225T>C (p.Tyr1409His)
c.4195T>C (p.Tyr1399His)
c.4066T>C (p.Tyr1356His)
c.4045T>C (p.Tyr1349His)
n.4427-1884T>C
dbSNP
6g.157198821T>GCA366239506ARID1Bc.4234T>G (p.Tyr1412Asp)
c.4303T>G (p.Tyr1435Asp)
c.4522T>G (p.Tyr1508Asp)
c.4273T>G (p.Tyr1425Asp)
c.3985T>G (p.Tyr1329Asp)
c.2551T>G (p.Tyr851Asp)
c.1714T>G (p.Tyr572Asp)
c.1345T>G (p.Tyr449Asp)
n.2856T>G
n.313T>G
c.4393T>G (p.Tyr1465Asp)
n.2390T>G
c.1761T>G
c.1675T>G
n.1059T>G
c.1735T>G (p.Tyr579Asp)
c.1894T>G (p.Tyr632Asp)
c.4024T>G (p.Tyr1342Asp)
c.4144T>G (p.Tyr1382Asp)
c.3223T>G (p.Tyr1075Asp)
c.3043T>G (p.Tyr1015Asp)
c.2803T>G (p.Tyr935Asp)
c.2422T>G (p.Tyr808Asp)
c.1285T>G (p.Tyr429Asp)
c.4354T>G (p.Tyr1452Asp)
c.4255T>G (p.Tyr1419Asp)
c.4225T>G (p.Tyr1409Asp)
c.4195T>G (p.Tyr1399Asp)
c.4066T>G (p.Tyr1356Asp)
c.4045T>G (p.Tyr1349Asp)
n.4427-1884T>G
6g.157198822A>CCA366239508ARID1Bc.4235A>C (p.Tyr1412Ser)
c.4304A>C (p.Tyr1435Ser)
c.4523A>C (p.Tyr1508Ser)
c.4274A>C (p.Tyr1425Ser)
c.3986A>C (p.Tyr1329Ser)
c.2552A>C (p.Tyr851Ser)
c.1715A>C (p.Tyr572Ser)
c.1346A>C (p.Tyr449Ser)
n.2857A>C
n.314A>C
c.4394A>C (p.Tyr1465Ser)
n.2391A>C
c.1762A>C
c.1676A>C
n.1060A>C
c.1736A>C (p.Tyr579Ser)
c.1895A>C (p.Tyr632Ser)
c.4025A>C (p.Tyr1342Ser)
c.4145A>C (p.Tyr1382Ser)
c.3224A>C (p.Tyr1075Ser)
c.3044A>C (p.Tyr1015Ser)
c.2804A>C (p.Tyr935Ser)
c.2423A>C (p.Tyr808Ser)
c.1286A>C (p.Tyr429Ser)
c.4355A>C (p.Tyr1452Ser)
c.4256A>C (p.Tyr1419Ser)
c.4226A>C (p.Tyr1409Ser)
c.4196A>C (p.Tyr1399Ser)
c.4067A>C (p.Tyr1356Ser)
c.4046A>C (p.Tyr1349Ser)
n.4427-1883A>C
6g.157198822A>GCA366239511ARID1Bc.4235A>G (p.Tyr1412Cys)
c.4304A>G (p.Tyr1435Cys)
c.4523A>G (p.Tyr1508Cys)
c.4274A>G (p.Tyr1425Cys)
c.3986A>G (p.Tyr1329Cys)
c.2552A>G (p.Tyr851Cys)
c.1715A>G (p.Tyr572Cys)
c.1346A>G (p.Tyr449Cys)
n.2857A>G
n.314A>G
c.4394A>G (p.Tyr1465Cys)
n.2391A>G
c.1762A>G
c.1676A>G
n.1060A>G
c.1736A>G (p.Tyr579Cys)
c.1895A>G (p.Tyr632Cys)
c.4025A>G (p.Tyr1342Cys)
c.4145A>G (p.Tyr1382Cys)
c.3224A>G (p.Tyr1075Cys)
c.3044A>G (p.Tyr1015Cys)
c.2804A>G (p.Tyr935Cys)
c.2423A>G (p.Tyr808Cys)
c.1286A>G (p.Tyr429Cys)
c.4355A>G (p.Tyr1452Cys)
c.4256A>G (p.Tyr1419Cys)
c.4226A>G (p.Tyr1409Cys)
c.4196A>G (p.Tyr1399Cys)
c.4067A>G (p.Tyr1356Cys)
c.4046A>G (p.Tyr1349Cys)
n.4427-1883A>G
dbSNP
6g.157198822A>TCA366239512ARID1Bc.4235A>T (p.Tyr1412Phe)
c.4304A>T (p.Tyr1435Phe)
c.4523A>T (p.Tyr1508Phe)
c.4274A>T (p.Tyr1425Phe)
c.3986A>T (p.Tyr1329Phe)
c.2552A>T (p.Tyr851Phe)
c.1715A>T (p.Tyr572Phe)
c.1346A>T (p.Tyr449Phe)
n.2857A>T
n.314A>T
c.4394A>T (p.Tyr1465Phe)
n.2391A>T
c.1762A>T
c.1676A>T
n.1060A>T
c.1736A>T (p.Tyr579Phe)
c.1895A>T (p.Tyr632Phe)
c.4025A>T (p.Tyr1342Phe)
c.4145A>T (p.Tyr1382Phe)
c.3224A>T (p.Tyr1075Phe)
c.3044A>T (p.Tyr1015Phe)
c.2804A>T (p.Tyr935Phe)
c.2423A>T (p.Tyr808Phe)
c.1286A>T (p.Tyr429Phe)
c.4355A>T (p.Tyr1452Phe)
c.4256A>T (p.Tyr1419Phe)
c.4226A>T (p.Tyr1409Phe)
c.4196A>T (p.Tyr1399Phe)
c.4067A>T (p.Tyr1356Phe)
c.4046A>T (p.Tyr1349Phe)
n.4427-1883A>T
6g.157198823delCA923726186ARID1Bc.4236del (p.Tyr1412Ter)
c.4305del (p.Tyr1435Ter)
c.4524del (p.Tyr1508Ter)
c.4275del (p.Tyr1425Ter)
c.3987del (p.Tyr1329Ter)
c.2553del (p.Tyr851Ter)
c.1716del (p.Tyr572Ter)
c.1347del (p.Tyr449Ter)
n.2858del
n.315del
c.4395del (p.Tyr1465Ter)
n.2392del
c.1763del
c.1677del
n.1061del
c.1737del (p.Tyr579Ter)
c.1896del (p.Tyr632Ter)
c.4026del (p.Tyr1342Ter)
c.4146del (p.Tyr1382Ter)
c.3225del (p.Tyr1075Ter)
c.3045del (p.Tyr1015Ter)
c.2805del (p.Tyr935Ter)
c.2424del (p.Tyr808Ter)
c.1287del (p.Tyr429Ter)
c.4356del (p.Tyr1452Ter)
c.4257del (p.Tyr1419Ter)
c.4227del (p.Tyr1409Ter)
c.4197del (p.Tyr1399Ter)
c.4068del (p.Tyr1356Ter)
c.4047del (p.Tyr1349Ter)
n.4427-1882del
ClinVar
6g.157198823T>ACA366239515ARID1Bc.4236T>A (p.Tyr1412Ter)
c.4305T>A (p.Tyr1435Ter)
c.4524T>A (p.Tyr1508Ter)
c.4275T>A (p.Tyr1425Ter)
c.3987T>A (p.Tyr1329Ter)
c.2553T>A (p.Tyr851Ter)
c.1716T>A (p.Tyr572Ter)
c.1347T>A (p.Tyr449Ter)
n.2858T>A
n.315T>A
c.4395T>A (p.Tyr1465Ter)
n.2392T>A
c.1763T>A
c.1677T>A
n.1061T>A
c.1737T>A (p.Tyr579Ter)
c.1896T>A (p.Tyr632Ter)
c.4026T>A (p.Tyr1342Ter)
c.4146T>A (p.Tyr1382Ter)
c.3225T>A (p.Tyr1075Ter)
c.3045T>A (p.Tyr1015Ter)
c.2805T>A (p.Tyr935Ter)
c.2424T>A (p.Tyr808Ter)
c.1287T>A (p.Tyr429Ter)
c.4356T>A (p.Tyr1452Ter)
c.4257T>A (p.Tyr1419Ter)
c.4227T>A (p.Tyr1409Ter)
c.4197T>A (p.Tyr1399Ter)
c.4068T>A (p.Tyr1356Ter)
c.4047T>A (p.Tyr1349Ter)
n.4427-1882T>A
6g.157198823T>CCA452783917ARID1Bc.4236T>C (p.Tyr1412=)
c.4305T>C (p.Tyr1435=)
c.4524T>C (p.Tyr1508=)
c.4275T>C (p.Tyr1425=)
c.3987T>C (p.Tyr1329=)
c.2553T>C (p.Tyr851=)
c.1716T>C (p.Tyr572=)
c.1347T>C (p.Tyr449=)
n.2858T>C
n.315T>C
c.4395T>C (p.Tyr1465=)
n.2392T>C
c.1763T>C
c.1677T>C
n.1061T>C
c.1737T>C (p.Tyr579=)
c.1896T>C (p.Tyr632=)
c.4026T>C (p.Tyr1342=)
c.4146T>C (p.Tyr1382=)
c.3225T>C (p.Tyr1075=)
c.3045T>C (p.Tyr1015=)
c.2805T>C (p.Tyr935=)
c.2424T>C (p.Tyr808=)
c.1287T>C (p.Tyr429=)
c.4356T>C (p.Tyr1452=)
c.4257T>C (p.Tyr1419=)
c.4227T>C (p.Tyr1409=)
c.4197T>C (p.Tyr1399=)
c.4068T>C (p.Tyr1356=)
c.4047T>C (p.Tyr1349=)
n.4427-1882T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.157198823T>GCA366239517ARID1Bc.4236T>G (p.Tyr1412Ter)
c.4305T>G (p.Tyr1435Ter)
c.4524T>G (p.Tyr1508Ter)
c.4275T>G (p.Tyr1425Ter)
c.3987T>G (p.Tyr1329Ter)
c.2553T>G (p.Tyr851Ter)
c.1716T>G (p.Tyr572Ter)
c.1347T>G (p.Tyr449Ter)
n.2858T>G
n.315T>G
c.4395T>G (p.Tyr1465Ter)
n.2392T>G
c.1763T>G
c.1677T>G
n.1061T>G
c.1737T>G (p.Tyr579Ter)
c.1896T>G (p.Tyr632Ter)
c.4026T>G (p.Tyr1342Ter)
c.4146T>G (p.Tyr1382Ter)
c.3225T>G (p.Tyr1075Ter)
c.3045T>G (p.Tyr1015Ter)
c.2805T>G (p.Tyr935Ter)
c.2424T>G (p.Tyr808Ter)
c.1287T>G (p.Tyr429Ter)
c.4356T>G (p.Tyr1452Ter)
c.4257T>G (p.Tyr1419Ter)
c.4227T>G (p.Tyr1409Ter)
c.4197T>G (p.Tyr1399Ter)
c.4068T>G (p.Tyr1356Ter)
c.4047T>G (p.Tyr1349Ter)
n.4427-1882T>G
6g.157198823T=CA1675542218ARID1Bc.4236T= (p.Tyr1412=)
c.4305T= (p.Tyr1435=)
c.4524T= (p.Tyr1508=)
c.4275T= (p.Tyr1425=)
c.3987T= (p.Tyr1329=)
c.2553T= (p.Tyr851=)
c.1716T= (p.Tyr572=)
c.1347T= (p.Tyr449=)
n.2858T=
n.315T=
c.4395T= (p.Tyr1465=)
n.2392T=
c.1763T=
c.1677T=
n.1061T=
c.1737T= (p.Tyr579=)
c.1896T= (p.Tyr632=)
c.4026T= (p.Tyr1342=)
c.4146T= (p.Tyr1382=)
c.3225T= (p.Tyr1075=)
c.3045T= (p.Tyr1015=)
c.2805T= (p.Tyr935=)
c.2424T= (p.Tyr808=)
c.1287T= (p.Tyr429=)
c.4356T= (p.Tyr1452=)
c.4257T= (p.Tyr1419=)
c.4227T= (p.Tyr1409=)
c.4197T= (p.Tyr1399=)
c.4068T= (p.Tyr1356=)
c.4047T= (p.Tyr1349=)
n.4427-1882T=
6g.157198824G>ACA366239526ARID1Bc.4237G>A (p.Gly1413Arg)
c.4306G>A (p.Gly1436Arg)
c.4525G>A (p.Gly1509Arg)
c.4276G>A (p.Gly1426Arg)
c.3988G>A (p.Gly1330Arg)
c.2554G>A (p.Gly852Arg)
c.1717G>A (p.Gly573Arg)
c.1348G>A (p.Gly450Arg)
n.2859G>A
n.316G>A
c.4396G>A (p.Gly1466Arg)
n.2393G>A
c.1764G>A
c.1678G>A
n.1062G>A
c.1738G>A (p.Gly580Arg)
c.1897G>A (p.Gly633Arg)
c.4027G>A (p.Gly1343Arg)
c.4147G>A (p.Gly1383Arg)
c.3226G>A (p.Gly1076Arg)
c.3046G>A (p.Gly1016Arg)
c.2806G>A (p.Gly936Arg)
c.2425G>A (p.Gly809Arg)
c.1288G>A (p.Gly430Arg)
c.4357G>A (p.Gly1453Arg)
c.4258G>A (p.Gly1420Arg)
c.4228G>A (p.Gly1410Arg)
c.4198G>A (p.Gly1400Arg)
c.4069G>A (p.Gly1357Arg)
c.4048G>A (p.Gly1350Arg)
n.4427-1881G>A
dbSNP gnomAD v4
6g.157198824G>CCA366239529ARID1Bc.4237G>C (p.Gly1413Arg)
c.4306G>C (p.Gly1436Arg)
c.4525G>C (p.Gly1509Arg)
c.4276G>C (p.Gly1426Arg)
c.3988G>C (p.Gly1330Arg)
c.2554G>C (p.Gly852Arg)
c.1717G>C (p.Gly573Arg)
c.1348G>C (p.Gly450Arg)
n.2859G>C
n.316G>C
c.4396G>C (p.Gly1466Arg)
n.2393G>C
c.1764G>C
c.1678G>C
n.1062G>C
c.1738G>C (p.Gly580Arg)
c.1897G>C (p.Gly633Arg)
c.4027G>C (p.Gly1343Arg)
c.4147G>C (p.Gly1383Arg)
c.3226G>C (p.Gly1076Arg)
c.3046G>C (p.Gly1016Arg)
c.2806G>C (p.Gly936Arg)
c.2425G>C (p.Gly809Arg)
c.1288G>C (p.Gly430Arg)
c.4357G>C (p.Gly1453Arg)
c.4258G>C (p.Gly1420Arg)
c.4228G>C (p.Gly1410Arg)
c.4198G>C (p.Gly1400Arg)
c.4069G>C (p.Gly1357Arg)
c.4048G>C (p.Gly1350Arg)
n.4427-1881G>C
6g.157198824G=CA1675542219ARID1Bc.4237G= (p.Gly1413=)
c.4306G= (p.Gly1436=)
c.4525G= (p.Gly1509=)
c.4276G= (p.Gly1426=)
c.3988G= (p.Gly1330=)
c.2554G= (p.Gly852=)
c.1717G= (p.Gly573=)
c.1348G= (p.Gly450=)
n.2859G=
n.316G=
c.4396G= (p.Gly1466=)
n.2393G=
c.1764G=
c.1678G=
n.1062G=
c.1738G= (p.Gly580=)
c.1897G= (p.Gly633=)
c.4027G= (p.Gly1343=)
c.4147G= (p.Gly1383=)
c.3226G= (p.Gly1076=)
c.3046G= (p.Gly1016=)
c.2806G= (p.Gly936=)
c.2425G= (p.Gly809=)
c.1288G= (p.Gly430=)
c.4357G= (p.Gly1453=)
c.4258G= (p.Gly1420=)
c.4228G= (p.Gly1410=)
c.4198G= (p.Gly1400=)
c.4069G= (p.Gly1357=)
c.4048G= (p.Gly1350=)
n.4427-1881G=
6g.157198824G>TCA366239532ARID1Bc.4237G>T (p.Gly1413Trp)
c.4306G>T (p.Gly1436Trp)
c.4525G>T (p.Gly1509Trp)
c.4276G>T (p.Gly1426Trp)
c.3988G>T (p.Gly1330Trp)
c.2554G>T (p.Gly852Trp)
c.1717G>T (p.Gly573Trp)
c.1348G>T (p.Gly450Trp)
n.2859G>T
n.316G>T
c.4396G>T (p.Gly1466Trp)
n.2393G>T
c.1764G>T
c.1678G>T
n.1062G>T
c.1738G>T (p.Gly580Trp)
c.1897G>T (p.Gly633Trp)
c.4027G>T (p.Gly1343Trp)
c.4147G>T (p.Gly1383Trp)
c.3226G>T (p.Gly1076Trp)
c.3046G>T (p.Gly1016Trp)
c.2806G>T (p.Gly936Trp)
c.2425G>T (p.Gly809Trp)
c.1288G>T (p.Gly430Trp)
c.4357G>T (p.Gly1453Trp)
c.4258G>T (p.Gly1420Trp)
c.4228G>T (p.Gly1410Trp)
c.4198G>T (p.Gly1400Trp)
c.4069G>T (p.Gly1357Trp)
c.4048G>T (p.Gly1350Trp)
n.4427-1881G>T
dbSNP
6g.157198825G>ACA366239537ARID1Bc.4238G>A (p.Gly1413Glu)
c.4307G>A (p.Gly1436Glu)
c.4526G>A (p.Gly1509Glu)
c.4277G>A (p.Gly1426Glu)
c.3989G>A (p.Gly1330Glu)
c.2555G>A (p.Gly852Glu)
c.1718G>A (p.Gly573Glu)
c.1349G>A (p.Gly450Glu)
n.2860G>A
n.317G>A
c.4397G>A (p.Gly1466Glu)
n.2394G>A
c.1765G>A
c.1679G>A
n.1063G>A
c.1739G>A (p.Gly580Glu)
c.1898G>A (p.Gly633Glu)
c.4028G>A (p.Gly1343Glu)
c.4148G>A (p.Gly1383Glu)
c.3227G>A (p.Gly1076Glu)
c.3047G>A (p.Gly1016Glu)
c.2807G>A (p.Gly936Glu)
c.2426G>A (p.Gly809Glu)
c.1289G>A (p.Gly430Glu)
c.4358G>A (p.Gly1453Glu)
c.4259G>A (p.Gly1420Glu)
c.4229G>A (p.Gly1410Glu)
c.4199G>A (p.Gly1400Glu)
c.4070G>A (p.Gly1357Glu)
c.4049G>A (p.Gly1350Glu)
n.4427-1880G>A
dbSNP gnomAD v4
6g.157198825G>CCA366239538ARID1Bc.4238G>C (p.Gly1413Ala)
c.4307G>C (p.Gly1436Ala)
c.4526G>C (p.Gly1509Ala)
c.4277G>C (p.Gly1426Ala)
c.3989G>C (p.Gly1330Ala)
c.2555G>C (p.Gly852Ala)
c.1718G>C (p.Gly573Ala)
c.1349G>C (p.Gly450Ala)
n.2860G>C
n.317G>C
c.4397G>C (p.Gly1466Ala)
n.2394G>C
c.1765G>C
c.1679G>C
n.1063G>C
c.1739G>C (p.Gly580Ala)
c.1898G>C (p.Gly633Ala)
c.4028G>C (p.Gly1343Ala)
c.4148G>C (p.Gly1383Ala)
c.3227G>C (p.Gly1076Ala)
c.3047G>C (p.Gly1016Ala)
c.2807G>C (p.Gly936Ala)
c.2426G>C (p.Gly809Ala)
c.1289G>C (p.Gly430Ala)
c.4358G>C (p.Gly1453Ala)
c.4259G>C (p.Gly1420Ala)
c.4229G>C (p.Gly1410Ala)
c.4199G>C (p.Gly1400Ala)
c.4070G>C (p.Gly1357Ala)
c.4049G>C (p.Gly1350Ala)
n.4427-1880G>C
dbSNP
6g.157198825G>TCA366239536ARID1Bc.4238G>T (p.Gly1413Val)
c.4307G>T (p.Gly1436Val)
c.4526G>T (p.Gly1509Val)
c.4277G>T (p.Gly1426Val)
c.3989G>T (p.Gly1330Val)
c.2555G>T (p.Gly852Val)
c.1718G>T (p.Gly573Val)
c.1349G>T (p.Gly450Val)
n.2860G>T
n.317G>T
c.4397G>T (p.Gly1466Val)
n.2394G>T
c.1765G>T
c.1679G>T
n.1063G>T
c.1739G>T (p.Gly580Val)
c.1898G>T (p.Gly633Val)
c.4028G>T (p.Gly1343Val)
c.4148G>T (p.Gly1383Val)
c.3227G>T (p.Gly1076Val)
c.3047G>T (p.Gly1016Val)
c.2807G>T (p.Gly936Val)
c.2426G>T (p.Gly809Val)
c.1289G>T (p.Gly430Val)
c.4358G>T (p.Gly1453Val)
c.4259G>T (p.Gly1420Val)
c.4229G>T (p.Gly1410Val)
c.4199G>T (p.Gly1400Val)
c.4070G>T (p.Gly1357Val)
c.4049G>T (p.Gly1350Val)
n.4427-1880G>T
6g.157198826G>ACA452783920ARID1Bc.4239G>A (p.Gly1413=)
c.4308G>A (p.Gly1436=)
c.4527G>A (p.Gly1509=)
c.4278G>A (p.Gly1426=)
c.3990G>A (p.Gly1330=)
c.2556G>A (p.Gly852=)
c.1719G>A (p.Gly573=)
c.1350G>A (p.Gly450=)
n.2861G>A
n.318G>A
c.4398G>A (p.Gly1466=)
n.2395G>A
c.1766G>A
c.1680G>A
n.1064G>A
c.1740G>A (p.Gly580=)
c.1899G>A (p.Gly633=)
c.4029G>A (p.Gly1343=)
c.4149G>A (p.Gly1383=)
c.3228G>A (p.Gly1076=)
c.3048G>A (p.Gly1016=)
c.2808G>A (p.Gly936=)
c.2427G>A (p.Gly809=)
c.1290G>A (p.Gly430=)
c.4359G>A (p.Gly1453=)
c.4260G>A (p.Gly1420=)
c.4230G>A (p.Gly1410=)
c.4200G>A (p.Gly1400=)
c.4071G>A (p.Gly1357=)
c.4050G>A (p.Gly1350=)
n.4427-1879G>A
dbSNP gnomAD v4
6g.157198826G>CCA452783921ARID1Bc.4239G>C (p.Gly1413=)
c.4308G>C (p.Gly1436=)
c.4527G>C (p.Gly1509=)
c.4278G>C (p.Gly1426=)
c.3990G>C (p.Gly1330=)
c.2556G>C (p.Gly852=)
c.1719G>C (p.Gly573=)
c.1350G>C (p.Gly450=)
n.2861G>C
n.318G>C
c.4398G>C (p.Gly1466=)
n.2395G>C
c.1766G>C
c.1680G>C
n.1064G>C
c.1740G>C (p.Gly580=)
c.1899G>C (p.Gly633=)
c.4029G>C (p.Gly1343=)
c.4149G>C (p.Gly1383=)
c.3228G>C (p.Gly1076=)
c.3048G>C (p.Gly1016=)
c.2808G>C (p.Gly936=)
c.2427G>C (p.Gly809=)
c.1290G>C (p.Gly430=)
c.4359G>C (p.Gly1453=)
c.4260G>C (p.Gly1420=)
c.4230G>C (p.Gly1410=)
c.4200G>C (p.Gly1400=)
c.4071G>C (p.Gly1357=)
c.4050G>C (p.Gly1350=)
n.4427-1879G>C
dbSNP
6g.157198826G>TCA452783922ARID1Bc.4239G>T (p.Gly1413=)
c.4308G>T (p.Gly1436=)
c.4527G>T (p.Gly1509=)
c.4278G>T (p.Gly1426=)
c.3990G>T (p.Gly1330=)
c.2556G>T (p.Gly852=)
c.1719G>T (p.Gly573=)
c.1350G>T (p.Gly450=)
n.2861G>T
n.318G>T
c.4398G>T (p.Gly1466=)
n.2395G>T
c.1766G>T
c.1680G>T
n.1064G>T
c.1740G>T (p.Gly580=)
c.1899G>T (p.Gly633=)
c.4029G>T (p.Gly1343=)
c.4149G>T (p.Gly1383=)
c.3228G>T (p.Gly1076=)
c.3048G>T (p.Gly1016=)
c.2808G>T (p.Gly936=)
c.2427G>T (p.Gly809=)
c.1290G>T (p.Gly430=)
c.4359G>T (p.Gly1453=)
c.4260G>T (p.Gly1420=)
c.4230G>T (p.Gly1410=)
c.4200G>T (p.Gly1400=)
c.4071G>T (p.Gly1357=)
c.4050G>T (p.Gly1350=)
n.4427-1879G>T
dbSNP
6g.157198827C>ACA366239545ARID1Bc.4240C>A (p.Gln1414Lys)
c.4309C>A (p.Gln1437Lys)
c.4528C>A (p.Gln1510Lys)
c.4279C>A (p.Gln1427Lys)
c.3991C>A (p.Gln1331Lys)
c.2557C>A (p.Gln853Lys)
c.1720C>A (p.Gln574Lys)
c.1351C>A (p.Gln451Lys)
n.2862C>A
n.319C>A
c.4399C>A (p.Gln1467Lys)
n.2396C>A
c.1767C>A
c.1681C>A
n.1065C>A
c.1741C>A (p.Gln581Lys)
c.1900C>A (p.Gln634Lys)
c.4030C>A (p.Gln1344Lys)
c.4150C>A (p.Gln1384Lys)
c.3229C>A (p.Gln1077Lys)
c.3049C>A (p.Gln1017Lys)
c.2809C>A (p.Gln937Lys)
c.2428C>A (p.Gln810Lys)
c.1291C>A (p.Gln431Lys)
c.4360C>A (p.Gln1454Lys)
c.4261C>A (p.Gln1421Lys)
c.4231C>A (p.Gln1411Lys)
c.4201C>A (p.Gln1401Lys)
c.4072C>A (p.Gln1358Lys)
c.4051C>A (p.Gln1351Lys)
n.4427-1878C>A
6g.157198827C=CA1675542220ARID1Bc.4240C= (p.Gln1414=)
c.4309C= (p.Gln1437=)
c.4528C= (p.Gln1510=)
c.4279C= (p.Gln1427=)
c.3991C= (p.Gln1331=)
c.2557C= (p.Gln853=)
c.1720C= (p.Gln574=)
c.1351C= (p.Gln451=)
n.2862C=
n.319C=
c.4399C= (p.Gln1467=)
n.2396C=
c.1767C=
c.1681C=
n.1065C=
c.1741C= (p.Gln581=)
c.1900C= (p.Gln634=)
c.4030C= (p.Gln1344=)
c.4150C= (p.Gln1384=)
c.3229C= (p.Gln1077=)
c.3049C= (p.Gln1017=)
c.2809C= (p.Gln937=)
c.2428C= (p.Gln810=)
c.1291C= (p.Gln431=)
c.4360C= (p.Gln1454=)
c.4261C= (p.Gln1421=)
c.4231C= (p.Gln1411=)
c.4201C= (p.Gln1401=)
c.4072C= (p.Gln1358=)
c.4051C= (p.Gln1351=)
n.4427-1878C=
6g.157198827C>GCA366239540ARID1Bc.4240C>G (p.Gln1414Glu)
c.4309C>G (p.Gln1437Glu)
c.4528C>G (p.Gln1510Glu)
c.4279C>G (p.Gln1427Glu)
c.3991C>G (p.Gln1331Glu)
c.2557C>G (p.Gln853Glu)
c.1720C>G (p.Gln574Glu)
c.1351C>G (p.Gln451Glu)
n.2862C>G
n.319C>G
c.4399C>G (p.Gln1467Glu)
n.2396C>G
c.1767C>G
c.1681C>G
n.1065C>G
c.1741C>G (p.Gln581Glu)
c.1900C>G (p.Gln634Glu)
c.4030C>G (p.Gln1344Glu)
c.4150C>G (p.Gln1384Glu)
c.3229C>G (p.Gln1077Glu)
c.3049C>G (p.Gln1017Glu)
c.2809C>G (p.Gln937Glu)
c.2428C>G (p.Gln810Glu)
c.1291C>G (p.Gln431Glu)
c.4360C>G (p.Gln1454Glu)
c.4261C>G (p.Gln1421Glu)
c.4231C>G (p.Gln1411Glu)
c.4201C>G (p.Gln1401Glu)
c.4072C>G (p.Gln1358Glu)
c.4051C>G (p.Gln1351Glu)
n.4427-1878C>G
dbSNP
6g.157198827C>TCA366239541ARID1Bc.4240C>T (p.Gln1414Ter)
c.4309C>T (p.Gln1437Ter)
c.4528C>T (p.Gln1510Ter)
c.4279C>T (p.Gln1427Ter)
c.3991C>T (p.Gln1331Ter)
c.2557C>T (p.Gln853Ter)
c.1720C>T (p.Gln574Ter)
c.1351C>T (p.Gln451Ter)
n.2862C>T
n.319C>T
c.4399C>T (p.Gln1467Ter)
n.2396C>T
c.1767C>T
c.1681C>T
n.1065C>T
c.1741C>T (p.Gln581Ter)
c.1900C>T (p.Gln634Ter)
c.4030C>T (p.Gln1344Ter)
c.4150C>T (p.Gln1384Ter)
c.3229C>T (p.Gln1077Ter)
c.3049C>T (p.Gln1017Ter)
c.2809C>T (p.Gln937Ter)
c.2428C>T (p.Gln810Ter)
c.1291C>T (p.Gln431Ter)
c.4360C>T (p.Gln1454Ter)
c.4261C>T (p.Gln1421Ter)
c.4231C>T (p.Gln1411Ter)
c.4201C>T (p.Gln1401Ter)
c.4072C>T (p.Gln1358Ter)
c.4051C>T (p.Gln1351Ter)
n.4427-1878C>T
dbSNP
6g.157198828A>CCA366239548ARID1Bc.4241A>C (p.Gln1414Pro)
c.4310A>C (p.Gln1437Pro)
c.4529A>C (p.Gln1510Pro)
c.4280A>C (p.Gln1427Pro)
c.3992A>C (p.Gln1331Pro)
c.2558A>C (p.Gln853Pro)
c.1721A>C (p.Gln574Pro)
c.1352A>C (p.Gln451Pro)
n.2863A>C
n.320A>C
c.4400A>C (p.Gln1467Pro)
n.2397A>C
c.1768A>C
c.1682A>C
n.1066A>C
c.1742A>C (p.Gln581Pro)
c.1901A>C (p.Gln634Pro)
c.4031A>C (p.Gln1344Pro)
c.4151A>C (p.Gln1384Pro)
c.3230A>C (p.Gln1077Pro)
c.3050A>C (p.Gln1017Pro)
c.2810A>C (p.Gln937Pro)
c.2429A>C (p.Gln810Pro)
c.1292A>C (p.Gln431Pro)
c.4361A>C (p.Gln1454Pro)
c.4262A>C (p.Gln1421Pro)
c.4232A>C (p.Gln1411Pro)
c.4202A>C (p.Gln1401Pro)
c.4073A>C (p.Gln1358Pro)
c.4052A>C (p.Gln1351Pro)
n.4427-1877A>C
6g.157198828A>GCA366239550ARID1Bc.4241A>G (p.Gln1414Arg)
c.4310A>G (p.Gln1437Arg)
c.4529A>G (p.Gln1510Arg)
c.4280A>G (p.Gln1427Arg)
c.3992A>G (p.Gln1331Arg)
c.2558A>G (p.Gln853Arg)
c.1721A>G (p.Gln574Arg)
c.1352A>G (p.Gln451Arg)
n.2863A>G
n.320A>G
c.4400A>G (p.Gln1467Arg)
n.2397A>G
c.1768A>G
c.1682A>G
n.1066A>G
c.1742A>G (p.Gln581Arg)
c.1901A>G (p.Gln634Arg)
c.4031A>G (p.Gln1344Arg)
c.4151A>G (p.Gln1384Arg)
c.3230A>G (p.Gln1077Arg)
c.3050A>G (p.Gln1017Arg)
c.2810A>G (p.Gln937Arg)
c.2429A>G (p.Gln810Arg)
c.1292A>G (p.Gln431Arg)
c.4361A>G (p.Gln1454Arg)
c.4262A>G (p.Gln1421Arg)
c.4232A>G (p.Gln1411Arg)
c.4202A>G (p.Gln1401Arg)
c.4073A>G (p.Gln1358Arg)
c.4052A>G (p.Gln1351Arg)
n.4427-1877A>G
6g.157198828A>TCA366239553ARID1Bc.4241A>T (p.Gln1414Leu)
c.4310A>T (p.Gln1437Leu)
c.4529A>T (p.Gln1510Leu)
c.4280A>T (p.Gln1427Leu)
c.3992A>T (p.Gln1331Leu)
c.2558A>T (p.Gln853Leu)
c.1721A>T (p.Gln574Leu)
c.1352A>T (p.Gln451Leu)
n.2863A>T
n.320A>T
c.4400A>T (p.Gln1467Leu)
n.2397A>T
c.1768A>T
c.1682A>T
n.1066A>T
c.1742A>T (p.Gln581Leu)
c.1901A>T (p.Gln634Leu)
c.4031A>T (p.Gln1344Leu)
c.4151A>T (p.Gln1384Leu)
c.3230A>T (p.Gln1077Leu)
c.3050A>T (p.Gln1017Leu)
c.2810A>T (p.Gln937Leu)
c.2429A>T (p.Gln810Leu)
c.1292A>T (p.Gln431Leu)
c.4361A>T (p.Gln1454Leu)
c.4262A>T (p.Gln1421Leu)
c.4232A>T (p.Gln1411Leu)
c.4202A>T (p.Gln1401Leu)
c.4073A>T (p.Gln1358Leu)
c.4052A>T (p.Gln1351Leu)
n.4427-1877A>T
6g.157198828dupCA2580615812ARID1Bc.4241dup (p.Gln1415AlafsTer?)
c.4310dup (p.Gln1438AlafsTer?)
c.4529dup (p.Gln1511AlafsTer?)
c.4280dup (p.Gln1428AlafsTer?)
c.3992dup (p.Gln1332AlafsTer?)
c.2558dup (p.Gln854AlafsTer?)
c.1721dup (p.Gln575AlafsTer?)
c.1352dup (p.Gln452AlafsTer?)
n.2863dup
n.320dup
c.4400dup (p.Gln1468AlafsTer?)
n.2397dup
c.1768dup
c.1682dup
n.1066dup
c.1742dup (p.Gln582AlafsTer?)
c.1901dup (p.Gln635AlafsTer?)
c.4031dup (p.Gln1345AlafsTer?)
c.4151dup (p.Gln1385AlafsTer?)
c.3230dup (p.Gln1078AlafsTer?)
c.3050dup (p.Gln1018AlafsTer?)
c.2810dup (p.Gln938AlafsTer?)
c.2429dup (p.Gln811AlafsTer?)
c.1292dup (p.Gln432AlafsTer?)
c.4361dup (p.Gln1455AlafsTer?)
c.4262dup (p.Gln1422AlafsTer?)
c.4232dup (p.Gln1412AlafsTer?)
c.4202dup (p.Gln1402AlafsTer?)
c.4073dup (p.Gln1359AlafsTer?)
c.4052dup (p.Gln1352AlafsTer?)
n.4427-1877dup
ClinVar
6g.157198829G>ACA452783923ARID1Bc.4242G>A (p.Gln1414=)
c.4311G>A (p.Gln1437=)
c.4530G>A (p.Gln1510=)
c.4281G>A (p.Gln1427=)
c.3993G>A (p.Gln1331=)
c.2559G>A (p.Gln853=)
c.1722G>A (p.Gln574=)
c.1353G>A (p.Gln451=)
n.2864G>A
n.321G>A
c.4401G>A (p.Gln1467=)
n.2398G>A
c.1769G>A
c.1683G>A
n.1067G>A
c.1743G>A (p.Gln581=)
c.1902G>A (p.Gln634=)
c.4032G>A (p.Gln1344=)
c.4152G>A (p.Gln1384=)
c.3231G>A (p.Gln1077=)
c.3051G>A (p.Gln1017=)
c.2811G>A (p.Gln937=)
c.2430G>A (p.Gln810=)
c.1293G>A (p.Gln431=)
c.4362G>A (p.Gln1454=)
c.4263G>A (p.Gln1421=)
c.4233G>A (p.Gln1411=)
c.4203G>A (p.Gln1401=)
c.4074G>A (p.Gln1358=)
c.4053G>A (p.Gln1351=)
n.4427-1876G>A
dbSNP gnomAD v4
6g.157198829G>CCA366239555ARID1Bc.4242G>C (p.Gln1414His)
c.4311G>C (p.Gln1437His)
c.4530G>C (p.Gln1510His)
c.4281G>C (p.Gln1427His)
c.3993G>C (p.Gln1331His)
c.2559G>C (p.Gln853His)
c.1722G>C (p.Gln574His)
c.1353G>C (p.Gln451His)
n.2864G>C
n.321G>C
c.4401G>C (p.Gln1467His)
n.2398G>C
c.1769G>C
c.1683G>C
n.1067G>C
c.1743G>C (p.Gln581His)
c.1902G>C (p.Gln634His)
c.4032G>C (p.Gln1344His)
c.4152G>C (p.Gln1384His)
c.3231G>C (p.Gln1077His)
c.3051G>C (p.Gln1017His)
c.2811G>C (p.Gln937His)
c.2430G>C (p.Gln810His)
c.1293G>C (p.Gln431His)
c.4362G>C (p.Gln1454His)
c.4263G>C (p.Gln1421His)
c.4233G>C (p.Gln1411His)
c.4203G>C (p.Gln1401His)
c.4074G>C (p.Gln1358His)
c.4053G>C (p.Gln1351His)
n.4427-1876G>C
dbSNP
6g.157198829G>TCA366239557ARID1Bc.4242G>T (p.Gln1414His)
c.4311G>T (p.Gln1437His)
c.4530G>T (p.Gln1510His)
c.4281G>T (p.Gln1427His)
c.3993G>T (p.Gln1331His)
c.2559G>T (p.Gln853His)
c.1722G>T (p.Gln574His)
c.1353G>T (p.Gln451His)
n.2864G>T
n.321G>T
c.4401G>T (p.Gln1467His)
n.2398G>T
c.1769G>T
c.1683G>T
n.1067G>T
c.1743G>T (p.Gln581His)
c.1902G>T (p.Gln634His)
c.4032G>T (p.Gln1344His)
c.4152G>T (p.Gln1384His)
c.3231G>T (p.Gln1077His)
c.3051G>T (p.Gln1017His)
c.2811G>T (p.Gln937His)
c.2430G>T (p.Gln810His)
c.1293G>T (p.Gln431His)
c.4362G>T (p.Gln1454His)
c.4263G>T (p.Gln1421His)
c.4233G>T (p.Gln1411His)
c.4203G>T (p.Gln1401His)
c.4074G>T (p.Gln1358His)
c.4053G>T (p.Gln1351His)
n.4427-1876G>T
6g.157198830C>ACA366239561ARID1Bc.4243C>A (p.Gln1415Lys)
c.4312C>A (p.Gln1438Lys)
c.4531C>A (p.Gln1511Lys)
c.4282C>A (p.Gln1428Lys)
c.3994C>A (p.Gln1332Lys)
c.2560C>A (p.Gln854Lys)
c.1723C>A (p.Gln575Lys)
c.1354C>A (p.Gln452Lys)
n.2865C>A
n.322C>A
c.4402C>A (p.Gln1468Lys)
n.2399C>A
c.1770C>A
c.1684C>A
n.1068C>A
c.1744C>A (p.Gln582Lys)
c.1903C>A (p.Gln635Lys)
c.4033C>A (p.Gln1345Lys)
c.4153C>A (p.Gln1385Lys)
c.3232C>A (p.Gln1078Lys)
c.3052C>A (p.Gln1018Lys)
c.2812C>A (p.Gln938Lys)
c.2431C>A (p.Gln811Lys)
c.1294C>A (p.Gln432Lys)
c.4363C>A (p.Gln1455Lys)
c.4264C>A (p.Gln1422Lys)
c.4234C>A (p.Gln1412Lys)
c.4204C>A (p.Gln1402Lys)
c.4075C>A (p.Gln1359Lys)
c.4054C>A (p.Gln1352Lys)
n.4427-1875C>A
6g.157198830C=CA1675542221ARID1Bc.4243C= (p.Gln1415=)
c.4312C= (p.Gln1438=)
c.4531C= (p.Gln1511=)
c.4282C= (p.Gln1428=)
c.3994C= (p.Gln1332=)
c.2560C= (p.Gln854=)
c.1723C= (p.Gln575=)
c.1354C= (p.Gln452=)
n.2865C=
n.322C=
c.4402C= (p.Gln1468=)
n.2399C=
c.1770C=
c.1684C=
n.1068C=
c.1744C= (p.Gln582=)
c.1903C= (p.Gln635=)
c.4033C= (p.Gln1345=)
c.4153C= (p.Gln1385=)
c.3232C= (p.Gln1078=)
c.3052C= (p.Gln1018=)
c.2812C= (p.Gln938=)
c.2431C= (p.Gln811=)
c.1294C= (p.Gln432=)
c.4363C= (p.Gln1455=)
c.4264C= (p.Gln1422=)
c.4234C= (p.Gln1412=)
c.4204C= (p.Gln1402=)
c.4075C= (p.Gln1359=)
c.4054C= (p.Gln1352=)
n.4427-1875C=
6g.157198830C>GCA366239564ARID1Bc.4243C>G (p.Gln1415Glu)
c.4312C>G (p.Gln1438Glu)
c.4531C>G (p.Gln1511Glu)
c.4282C>G (p.Gln1428Glu)
c.3994C>G (p.Gln1332Glu)
c.2560C>G (p.Gln854Glu)
c.1723C>G (p.Gln575Glu)
c.1354C>G (p.Gln452Glu)
n.2865C>G
n.322C>G
c.4402C>G (p.Gln1468Glu)
n.2399C>G
c.1770C>G
c.1684C>G
n.1068C>G
c.1744C>G (p.Gln582Glu)
c.1903C>G (p.Gln635Glu)
c.4033C>G (p.Gln1345Glu)
c.4153C>G (p.Gln1385Glu)
c.3232C>G (p.Gln1078Glu)
c.3052C>G (p.Gln1018Glu)
c.2812C>G (p.Gln938Glu)
c.2431C>G (p.Gln811Glu)
c.1294C>G (p.Gln432Glu)
c.4363C>G (p.Gln1455Glu)
c.4264C>G (p.Gln1422Glu)
c.4234C>G (p.Gln1412Glu)
c.4204C>G (p.Gln1402Glu)
c.4075C>G (p.Gln1359Glu)
c.4054C>G (p.Gln1352Glu)
n.4427-1875C>G
dbSNP
6g.157198830C>TCA366239567ARID1Bc.4243C>T (p.Gln1415Ter)
c.4312C>T (p.Gln1438Ter)
c.4531C>T (p.Gln1511Ter)
c.4282C>T (p.Gln1428Ter)
c.3994C>T (p.Gln1332Ter)
c.2560C>T (p.Gln854Ter)
c.1723C>T (p.Gln575Ter)
c.1354C>T (p.Gln452Ter)
n.2865C>T
n.322C>T
c.4402C>T (p.Gln1468Ter)
n.2399C>T
c.1770C>T
c.1684C>T
n.1068C>T
c.1744C>T (p.Gln582Ter)
c.1903C>T (p.Gln635Ter)
c.4033C>T (p.Gln1345Ter)
c.4153C>T (p.Gln1385Ter)
c.3232C>T (p.Gln1078Ter)
c.3052C>T (p.Gln1018Ter)
c.2812C>T (p.Gln938Ter)
c.2431C>T (p.Gln811Ter)
c.1294C>T (p.Gln432Ter)
c.4363C>T (p.Gln1455Ter)
c.4264C>T (p.Gln1422Ter)
c.4234C>T (p.Gln1412Ter)
c.4204C>T (p.Gln1402Ter)
c.4075C>T (p.Gln1359Ter)
c.4054C>T (p.Gln1352Ter)
n.4427-1875C>T
dbSNP
6g.157198831A>CCA366239570ARID1Bc.4244A>C (p.Gln1415Pro)
c.4313A>C (p.Gln1438Pro)
c.4532A>C (p.Gln1511Pro)
c.4283A>C (p.Gln1428Pro)
c.3995A>C (p.Gln1332Pro)
c.2561A>C (p.Gln854Pro)
c.1724A>C (p.Gln575Pro)
c.1355A>C (p.Gln452Pro)
n.2866A>C
n.323A>C
c.4403A>C (p.Gln1468Pro)
n.2400A>C
c.1771A>C
c.1685A>C
n.1069A>C
c.1745A>C (p.Gln582Pro)
c.1904A>C (p.Gln635Pro)
c.4034A>C (p.Gln1345Pro)
c.4154A>C (p.Gln1385Pro)
c.3233A>C (p.Gln1078Pro)
c.3053A>C (p.Gln1018Pro)
c.2813A>C (p.Gln938Pro)
c.2432A>C (p.Gln811Pro)
c.1295A>C (p.Gln432Pro)
c.4364A>C (p.Gln1455Pro)
c.4265A>C (p.Gln1422Pro)
c.4235A>C (p.Gln1412Pro)
c.4205A>C (p.Gln1402Pro)
c.4076A>C (p.Gln1359Pro)
c.4055A>C (p.Gln1352Pro)
n.4427-1874A>C
6g.157198831A>GCA366239572ARID1Bc.4244A>G (p.Gln1415Arg)
c.4313A>G (p.Gln1438Arg)
c.4532A>G (p.Gln1511Arg)
c.4283A>G (p.Gln1428Arg)
c.3995A>G (p.Gln1332Arg)
c.2561A>G (p.Gln854Arg)
c.1724A>G (p.Gln575Arg)
c.1355A>G (p.Gln452Arg)
n.2866A>G
n.323A>G
c.4403A>G (p.Gln1468Arg)
n.2400A>G
c.1771A>G
c.1685A>G
n.1069A>G
c.1745A>G (p.Gln582Arg)
c.1904A>G (p.Gln635Arg)
c.4034A>G (p.Gln1345Arg)
c.4154A>G (p.Gln1385Arg)
c.3233A>G (p.Gln1078Arg)
c.3053A>G (p.Gln1018Arg)
c.2813A>G (p.Gln938Arg)
c.2432A>G (p.Gln811Arg)
c.1295A>G (p.Gln432Arg)
c.4364A>G (p.Gln1455Arg)
c.4265A>G (p.Gln1422Arg)
c.4235A>G (p.Gln1412Arg)
c.4205A>G (p.Gln1402Arg)
c.4076A>G (p.Gln1359Arg)
c.4055A>G (p.Gln1352Arg)
n.4427-1874A>G
dbSNP
6g.157198831A>TCA366239574ARID1Bc.4244A>T (p.Gln1415Leu)
c.4313A>T (p.Gln1438Leu)
c.4532A>T (p.Gln1511Leu)
c.4283A>T (p.Gln1428Leu)
c.3995A>T (p.Gln1332Leu)
c.2561A>T (p.Gln854Leu)
c.1724A>T (p.Gln575Leu)
c.1355A>T (p.Gln452Leu)
n.2866A>T
n.323A>T
c.4403A>T (p.Gln1468Leu)
n.2400A>T
c.1771A>T
c.1685A>T
n.1069A>T
c.1745A>T (p.Gln582Leu)
c.1904A>T (p.Gln635Leu)
c.4034A>T (p.Gln1345Leu)
c.4154A>T (p.Gln1385Leu)
c.3233A>T (p.Gln1078Leu)
c.3053A>T (p.Gln1018Leu)
c.2813A>T (p.Gln938Leu)
c.2432A>T (p.Gln811Leu)
c.1295A>T (p.Gln432Leu)
c.4364A>T (p.Gln1455Leu)
c.4265A>T (p.Gln1422Leu)
c.4235A>T (p.Gln1412Leu)
c.4205A>T (p.Gln1402Leu)
c.4076A>T (p.Gln1359Leu)
c.4055A>T (p.Gln1352Leu)
n.4427-1874A>T
6g.157198832G>ACA452783924ARID1Bc.4245G>A (p.Gln1415=)
c.4314G>A (p.Gln1438=)
c.4533G>A (p.Gln1511=)
c.4284G>A (p.Gln1428=)
c.3996G>A (p.Gln1332=)
c.2562G>A (p.Gln854=)
c.1725G>A (p.Gln575=)
c.1356G>A (p.Gln452=)
n.2867G>A
n.324G>A
c.4404G>A (p.Gln1468=)
n.2401G>A
c.1772G>A
c.1686G>A
n.1070G>A
c.1746G>A (p.Gln582=)
c.1905G>A (p.Gln635=)
c.4035G>A (p.Gln1345=)
c.4155G>A (p.Gln1385=)
c.3234G>A (p.Gln1078=)
c.3054G>A (p.Gln1018=)
c.2814G>A (p.Gln938=)
c.2433G>A (p.Gln811=)
c.1296G>A (p.Gln432=)
c.4365G>A (p.Gln1455=)
c.4266G>A (p.Gln1422=)
c.4236G>A (p.Gln1412=)
c.4206G>A (p.Gln1402=)
c.4077G>A (p.Gln1359=)
c.4056G>A (p.Gln1352=)
n.4427-1873G>A
dbSNP gnomAD v4
6g.157198832G>CCA366239577ARID1Bc.4245G>C (p.Gln1415His)
c.4314G>C (p.Gln1438His)
c.4533G>C (p.Gln1511His)
c.4284G>C (p.Gln1428His)
c.3996G>C (p.Gln1332His)
c.2562G>C (p.Gln854His)
c.1725G>C (p.Gln575His)
c.1356G>C (p.Gln452His)
n.2867G>C
n.324G>C
c.4404G>C (p.Gln1468His)
n.2401G>C
c.1772G>C
c.1686G>C
n.1070G>C
c.1746G>C (p.Gln582His)
c.1905G>C (p.Gln635His)
c.4035G>C (p.Gln1345His)
c.4155G>C (p.Gln1385His)
c.3234G>C (p.Gln1078His)
c.3054G>C (p.Gln1018His)
c.2814G>C (p.Gln938His)
c.2433G>C (p.Gln811His)
c.1296G>C (p.Gln432His)
c.4365G>C (p.Gln1455His)
c.4266G>C (p.Gln1422His)
c.4236G>C (p.Gln1412His)
c.4206G>C (p.Gln1402His)
c.4077G>C (p.Gln1359His)
c.4056G>C (p.Gln1352His)
n.4427-1873G>C
dbSNP
6g.157198832G=CA1675542222ARID1Bc.4245G= (p.Gln1415=)
c.4314G= (p.Gln1438=)
c.4533G= (p.Gln1511=)
c.4284G= (p.Gln1428=)
c.3996G= (p.Gln1332=)
c.2562G= (p.Gln854=)
c.1725G= (p.Gln575=)
c.1356G= (p.Gln452=)
n.2867G=
n.324G=
c.4404G= (p.Gln1468=)
n.2401G=
c.1772G=
c.1686G=
n.1070G=
c.1746G= (p.Gln582=)
c.1905G= (p.Gln635=)
c.4035G= (p.Gln1345=)
c.4155G= (p.Gln1385=)
c.3234G= (p.Gln1078=)
c.3054G= (p.Gln1018=)
c.2814G= (p.Gln938=)
c.2433G= (p.Gln811=)
c.1296G= (p.Gln432=)
c.4365G= (p.Gln1455=)
c.4266G= (p.Gln1422=)
c.4236G= (p.Gln1412=)
c.4206G= (p.Gln1402=)
c.4077G= (p.Gln1359=)
c.4056G= (p.Gln1352=)
n.4427-1873G=
6g.157198832G>TCA366239578ARID1Bc.4245G>T (p.Gln1415His)
c.4314G>T (p.Gln1438His)
c.4533G>T (p.Gln1511His)
c.4284G>T (p.Gln1428His)
c.3996G>T (p.Gln1332His)
c.2562G>T (p.Gln854His)
c.1725G>T (p.Gln575His)
c.1356G>T (p.Gln452His)
n.2867G>T
n.324G>T
c.4404G>T (p.Gln1468His)
n.2401G>T
c.1772G>T
c.1686G>T
n.1070G>T
c.1746G>T (p.Gln582His)
c.1905G>T (p.Gln635His)
c.4035G>T (p.Gln1345His)
c.4155G>T (p.Gln1385His)
c.3234G>T (p.Gln1078His)
c.3054G>T (p.Gln1018His)
c.2814G>T (p.Gln938His)
c.2433G>T (p.Gln811His)
c.1296G>T (p.Gln432His)
c.4365G>T (p.Gln1455His)
c.4266G>T (p.Gln1422His)
c.4236G>T (p.Gln1412His)
c.4206G>T (p.Gln1402His)
c.4077G>T (p.Gln1359His)
c.4056G>T (p.Gln1352His)
n.4427-1873G>T
dbSNP gnomAD v2 gnomAD v4
6g.157198833T>ACA366239582ARID1Bc.4246T>A (p.Tyr1416Asn)
c.4315T>A (p.Tyr1439Asn)
c.4534T>A (p.Tyr1512Asn)
c.4285T>A (p.Tyr1429Asn)
c.3997T>A (p.Tyr1333Asn)
c.2563T>A (p.Tyr855Asn)
c.1726T>A (p.Tyr576Asn)
c.1357T>A (p.Tyr453Asn)
n.2868T>A
n.325T>A
c.4405T>A (p.Tyr1469Asn)
n.2402T>A
c.1773T>A
c.1687T>A
n.1071T>A
c.1747T>A (p.Tyr583Asn)
c.1906T>A (p.Tyr636Asn)
c.4036T>A (p.Tyr1346Asn)
c.4156T>A (p.Tyr1386Asn)
c.3235T>A (p.Tyr1079Asn)
c.3055T>A (p.Tyr1019Asn)
c.2815T>A (p.Tyr939Asn)
c.2434T>A (p.Tyr812Asn)
c.1297T>A (p.Tyr433Asn)
c.4366T>A (p.Tyr1456Asn)
c.4267T>A (p.Tyr1423Asn)
c.4237T>A (p.Tyr1413Asn)
c.4207T>A (p.Tyr1403Asn)
c.4078T>A (p.Tyr1360Asn)
c.4057T>A (p.Tyr1353Asn)
n.4427-1872T>A
dbSNP
6g.157198833T>CCA366239584ARID1Bc.4246T>C (p.Tyr1416His)
c.4315T>C (p.Tyr1439His)
c.4534T>C (p.Tyr1512His)
c.4285T>C (p.Tyr1429His)
c.3997T>C (p.Tyr1333His)
c.2563T>C (p.Tyr855His)
c.1726T>C (p.Tyr576His)
c.1357T>C (p.Tyr453His)
n.2868T>C
n.325T>C
c.4405T>C (p.Tyr1469His)
n.2402T>C
c.1773T>C
c.1687T>C
n.1071T>C
c.1747T>C (p.Tyr583His)
c.1906T>C (p.Tyr636His)
c.4036T>C (p.Tyr1346His)
c.4156T>C (p.Tyr1386His)
c.3235T>C (p.Tyr1079His)
c.3055T>C (p.Tyr1019His)
c.2815T>C (p.Tyr939His)
c.2434T>C (p.Tyr812His)
c.1297T>C (p.Tyr433His)
c.4366T>C (p.Tyr1456His)
c.4267T>C (p.Tyr1423His)
c.4237T>C (p.Tyr1413His)
c.4207T>C (p.Tyr1403His)
c.4078T>C (p.Tyr1360His)
c.4057T>C (p.Tyr1353His)
n.4427-1872T>C
6g.157198833T>GCA366239586ARID1Bc.4246T>G (p.Tyr1416Asp)
c.4315T>G (p.Tyr1439Asp)
c.4534T>G (p.Tyr1512Asp)
c.4285T>G (p.Tyr1429Asp)
c.3997T>G (p.Tyr1333Asp)
c.2563T>G (p.Tyr855Asp)
c.1726T>G (p.Tyr576Asp)
c.1357T>G (p.Tyr453Asp)
n.2868T>G
n.325T>G
c.4405T>G (p.Tyr1469Asp)
n.2402T>G
c.1773T>G
c.1687T>G
n.1071T>G
c.1747T>G (p.Tyr583Asp)
c.1906T>G (p.Tyr636Asp)
c.4036T>G (p.Tyr1346Asp)
c.4156T>G (p.Tyr1386Asp)
c.3235T>G (p.Tyr1079Asp)
c.3055T>G (p.Tyr1019Asp)
c.2815T>G (p.Tyr939Asp)
c.2434T>G (p.Tyr812Asp)
c.1297T>G (p.Tyr433Asp)
c.4366T>G (p.Tyr1456Asp)
c.4267T>G (p.Tyr1423Asp)
c.4237T>G (p.Tyr1413Asp)
c.4207T>G (p.Tyr1403Asp)
c.4078T>G (p.Tyr1360Asp)
c.4057T>G (p.Tyr1353Asp)
n.4427-1872T>G
6g.157198834A>CCA366239590ARID1Bc.4247A>C (p.Tyr1416Ser)
c.4316A>C (p.Tyr1439Ser)
c.4535A>C (p.Tyr1512Ser)
c.4286A>C (p.Tyr1429Ser)
c.3998A>C (p.Tyr1333Ser)
c.2564A>C (p.Tyr855Ser)
c.1727A>C (p.Tyr576Ser)
c.1358A>C (p.Tyr453Ser)
n.2869A>C
n.326A>C
c.4406A>C (p.Tyr1469Ser)
n.2403A>C
c.1774A>C
c.1688A>C
n.1072A>C
c.1748A>C (p.Tyr583Ser)
c.1907A>C (p.Tyr636Ser)
c.4037A>C (p.Tyr1346Ser)
c.4157A>C (p.Tyr1386Ser)
c.3236A>C (p.Tyr1079Ser)
c.3056A>C (p.Tyr1019Ser)
c.2816A>C (p.Tyr939Ser)
c.2435A>C (p.Tyr812Ser)
c.1298A>C (p.Tyr433Ser)
c.4367A>C (p.Tyr1456Ser)
c.4268A>C (p.Tyr1423Ser)
c.4238A>C (p.Tyr1413Ser)
c.4208A>C (p.Tyr1403Ser)
c.4079A>C (p.Tyr1360Ser)
c.4058A>C (p.Tyr1353Ser)
n.4427-1871A>C
6g.157198834A>GCA366239592ARID1Bc.4247A>G (p.Tyr1416Cys)
c.4316A>G (p.Tyr1439Cys)
c.4535A>G (p.Tyr1512Cys)
c.4286A>G (p.Tyr1429Cys)
c.3998A>G (p.Tyr1333Cys)
c.2564A>G (p.Tyr855Cys)
c.1727A>G (p.Tyr576Cys)
c.1358A>G (p.Tyr453Cys)
n.2869A>G
n.326A>G
c.4406A>G (p.Tyr1469Cys)
n.2403A>G
c.1774A>G
c.1688A>G
n.1072A>G
c.1748A>G (p.Tyr583Cys)
c.1907A>G (p.Tyr636Cys)
c.4037A>G (p.Tyr1346Cys)
c.4157A>G (p.Tyr1386Cys)
c.3236A>G (p.Tyr1079Cys)
c.3056A>G (p.Tyr1019Cys)
c.2816A>G (p.Tyr939Cys)
c.2435A>G (p.Tyr812Cys)
c.1298A>G (p.Tyr433Cys)
c.4367A>G (p.Tyr1456Cys)
c.4268A>G (p.Tyr1423Cys)
c.4238A>G (p.Tyr1413Cys)
c.4208A>G (p.Tyr1403Cys)
c.4079A>G (p.Tyr1360Cys)
c.4058A>G (p.Tyr1353Cys)
n.4427-1871A>G
gnomAD v4
6g.157198834A>TCA366239594ARID1Bc.4247A>T (p.Tyr1416Phe)
c.4316A>T (p.Tyr1439Phe)
c.4535A>T (p.Tyr1512Phe)
c.4286A>T (p.Tyr1429Phe)
c.3998A>T (p.Tyr1333Phe)
c.2564A>T (p.Tyr855Phe)
c.1727A>T (p.Tyr576Phe)
c.1358A>T (p.Tyr453Phe)
n.2869A>T
n.326A>T
c.4406A>T (p.Tyr1469Phe)
n.2403A>T
c.1774A>T
c.1688A>T
n.1072A>T
c.1748A>T (p.Tyr583Phe)
c.1907A>T (p.Tyr636Phe)
c.4037A>T (p.Tyr1346Phe)
c.4157A>T (p.Tyr1386Phe)
c.3236A>T (p.Tyr1079Phe)
c.3056A>T (p.Tyr1019Phe)
c.2816A>T (p.Tyr939Phe)
c.2435A>T (p.Tyr812Phe)
c.1298A>T (p.Tyr433Phe)
c.4367A>T (p.Tyr1456Phe)
c.4268A>T (p.Tyr1423Phe)
c.4238A>T (p.Tyr1413Phe)
c.4208A>T (p.Tyr1403Phe)
c.4079A>T (p.Tyr1360Phe)
c.4058A>T (p.Tyr1353Phe)
n.4427-1871A>T
6g.157198835T>ACA10575558ARID1Bc.4248T>A (p.Tyr1416Ter)
c.4317T>A (p.Tyr1439Ter)
c.4536T>A (p.Tyr1512Ter)
c.4287T>A (p.Tyr1429Ter)
c.3999T>A (p.Tyr1333Ter)
c.2565T>A (p.Tyr855Ter)
c.1728T>A (p.Tyr576Ter)
c.1359T>A (p.Tyr453Ter)
n.2870T>A
n.327T>A
c.4407T>A (p.Tyr1469Ter)
n.2404T>A
c.1775T>A
c.1689T>A
n.1073T>A
c.1749T>A (p.Tyr583Ter)
c.1908T>A (p.Tyr636Ter)
c.4038T>A (p.Tyr1346Ter)
c.4158T>A (p.Tyr1386Ter)
c.3237T>A (p.Tyr1079Ter)
c.3057T>A (p.Tyr1019Ter)
c.2817T>A (p.Tyr939Ter)
c.2436T>A (p.Tyr812Ter)
c.1299T>A (p.Tyr433Ter)
c.4368T>A (p.Tyr1456Ter)
c.4269T>A (p.Tyr1423Ter)
c.4239T>A (p.Tyr1413Ter)
c.4209T>A (p.Tyr1403Ter)
c.4080T>A (p.Tyr1360Ter)
c.4059T>A (p.Tyr1353Ter)
n.4427-1870T>A
ClinVar dbSNP
6g.157198835T>CCA4067623ARID1Bc.4248T>C (p.Tyr1416=)
c.4317T>C (p.Tyr1439=)
c.4536T>C (p.Tyr1512=)
c.4287T>C (p.Tyr1429=)
c.3999T>C (p.Tyr1333=)
c.2565T>C (p.Tyr855=)
c.1728T>C (p.Tyr576=)
c.1359T>C (p.Tyr453=)
n.2870T>C
n.327T>C
c.4407T>C (p.Tyr1469=)
n.2404T>C
c.1775T>C
c.1689T>C
n.1073T>C
c.1749T>C (p.Tyr583=)
c.1908T>C (p.Tyr636=)
c.4038T>C (p.Tyr1346=)
c.4158T>C (p.Tyr1386=)
c.3237T>C (p.Tyr1079=)
c.3057T>C (p.Tyr1019=)
c.2817T>C (p.Tyr939=)
c.2436T>C (p.Tyr812=)
c.1299T>C (p.Tyr433=)
c.4368T>C (p.Tyr1456=)
c.4269T>C (p.Tyr1423=)
c.4239T>C (p.Tyr1413=)
c.4209T>C (p.Tyr1403=)
c.4080T>C (p.Tyr1360=)
c.4059T>C (p.Tyr1353=)
n.4427-1870T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157198835T>GCA366239599ARID1Bc.4248T>G (p.Tyr1416Ter)
c.4317T>G (p.Tyr1439Ter)
c.4536T>G (p.Tyr1512Ter)
c.4287T>G (p.Tyr1429Ter)
c.3999T>G (p.Tyr1333Ter)
c.2565T>G (p.Tyr855Ter)
c.1728T>G (p.Tyr576Ter)
c.1359T>G (p.Tyr453Ter)
n.2870T>G
n.327T>G
c.4407T>G (p.Tyr1469Ter)
n.2404T>G
c.1775T>G
c.1689T>G
n.1073T>G
c.1749T>G (p.Tyr583Ter)
c.1908T>G (p.Tyr636Ter)
c.4038T>G (p.Tyr1346Ter)
c.4158T>G (p.Tyr1386Ter)
c.3237T>G (p.Tyr1079Ter)
c.3057T>G (p.Tyr1019Ter)
c.2817T>G (p.Tyr939Ter)
c.2436T>G (p.Tyr812Ter)
c.1299T>G (p.Tyr433Ter)
c.4368T>G (p.Tyr1456Ter)
c.4269T>G (p.Tyr1423Ter)
c.4239T>G (p.Tyr1413Ter)
c.4209T>G (p.Tyr1403Ter)
c.4080T>G (p.Tyr1360Ter)
c.4059T>G (p.Tyr1353Ter)
n.4427-1870T>G
COSMIC COSMIC
6g.157198835T=CA1675542223ARID1Bc.4248T= (p.Tyr1416=)
c.4317T= (p.Tyr1439=)
c.4536T= (p.Tyr1512=)
c.4287T= (p.Tyr1429=)
c.3999T= (p.Tyr1333=)
c.2565T= (p.Tyr855=)
c.1728T= (p.Tyr576=)
c.1359T= (p.Tyr453=)
n.2870T=
n.327T=
c.4407T= (p.Tyr1469=)
n.2404T=
c.1775T=
c.1689T=
n.1073T=
c.1749T= (p.Tyr583=)
c.1908T= (p.Tyr636=)
c.4038T= (p.Tyr1346=)
c.4158T= (p.Tyr1386=)
c.3237T= (p.Tyr1079=)
c.3057T= (p.Tyr1019=)
c.2817T= (p.Tyr939=)
c.2436T= (p.Tyr812=)
c.1299T= (p.Tyr433=)
c.4368T= (p.Tyr1456=)
c.4269T= (p.Tyr1423=)
c.4239T= (p.Tyr1413=)
c.4209T= (p.Tyr1403=)
c.4080T= (p.Tyr1360=)
c.4059T= (p.Tyr1353=)
n.4427-1870T=
6g.157198836C>ACA366239602ARID1Bc.4249C>A (p.Pro1417Thr)
c.4318C>A (p.Pro1440Thr)
c.4537C>A (p.Pro1513Thr)
c.4288C>A (p.Pro1430Thr)
c.4000C>A (p.Pro1334Thr)
c.2566C>A (p.Pro856Thr)
c.1729C>A (p.Pro577Thr)
c.1360C>A (p.Pro454Thr)
n.2871C>A
n.328C>A
c.4408C>A (p.Pro1470Thr)
n.2405C>A
c.1776C>A
c.1690C>A
n.1074C>A
c.1750C>A (p.Pro584Thr)
c.1909C>A (p.Pro637Thr)
c.4039C>A (p.Pro1347Thr)
c.4159C>A (p.Pro1387Thr)
c.3238C>A (p.Pro1080Thr)
c.3058C>A (p.Pro1020Thr)
c.2818C>A (p.Pro940Thr)
c.2437C>A (p.Pro813Thr)
c.1300C>A (p.Pro434Thr)
c.4369C>A (p.Pro1457Thr)
c.4270C>A (p.Pro1424Thr)
c.4240C>A (p.Pro1414Thr)
c.4210C>A (p.Pro1404Thr)
c.4081C>A (p.Pro1361Thr)
c.4060C>A (p.Pro1354Thr)
n.4427-1869C>A
dbSNP
6g.157198836C>GCA366239603ARID1Bc.4249C>G (p.Pro1417Ala)
c.4318C>G (p.Pro1440Ala)
c.4537C>G (p.Pro1513Ala)
c.4288C>G (p.Pro1430Ala)
c.4000C>G (p.Pro1334Ala)
c.2566C>G (p.Pro856Ala)
c.1729C>G (p.Pro577Ala)
c.1360C>G (p.Pro454Ala)
n.2871C>G
n.328C>G
c.4408C>G (p.Pro1470Ala)
n.2405C>G
c.1776C>G
c.1690C>G
n.1074C>G
c.1750C>G (p.Pro584Ala)
c.1909C>G (p.Pro637Ala)
c.4039C>G (p.Pro1347Ala)
c.4159C>G (p.Pro1387Ala)
c.3238C>G (p.Pro1080Ala)
c.3058C>G (p.Pro1020Ala)
c.2818C>G (p.Pro940Ala)
c.2437C>G (p.Pro813Ala)
c.1300C>G (p.Pro434Ala)
c.4369C>G (p.Pro1457Ala)
c.4270C>G (p.Pro1424Ala)
c.4240C>G (p.Pro1414Ala)
c.4210C>G (p.Pro1404Ala)
c.4081C>G (p.Pro1361Ala)
c.4060C>G (p.Pro1354Ala)
n.4427-1869C>G
dbSNP
6g.157198836C>TCA366239606ARID1Bc.4249C>T (p.Pro1417Ser)
c.4318C>T (p.Pro1440Ser)
c.4537C>T (p.Pro1513Ser)
c.4288C>T (p.Pro1430Ser)
c.4000C>T (p.Pro1334Ser)
c.2566C>T (p.Pro856Ser)
c.1729C>T (p.Pro577Ser)
c.1360C>T (p.Pro454Ser)
n.2871C>T
n.328C>T
c.4408C>T (p.Pro1470Ser)
n.2405C>T
c.1776C>T
c.1690C>T
n.1074C>T
c.1750C>T (p.Pro584Ser)
c.1909C>T (p.Pro637Ser)
c.4039C>T (p.Pro1347Ser)
c.4159C>T (p.Pro1387Ser)
c.3238C>T (p.Pro1080Ser)
c.3058C>T (p.Pro1020Ser)
c.2818C>T (p.Pro940Ser)
c.2437C>T (p.Pro813Ser)
c.1300C>T (p.Pro434Ser)
c.4369C>T (p.Pro1457Ser)
c.4270C>T (p.Pro1424Ser)
c.4240C>T (p.Pro1414Ser)
c.4210C>T (p.Pro1404Ser)
c.4081C>T (p.Pro1361Ser)
c.4060C>T (p.Pro1354Ser)
n.4427-1869C>T
dbSNP
6g.157198837C>ACA366239611ARID1Bc.4250C>A (p.Pro1417Gln)
c.4319C>A (p.Pro1440Gln)
c.4538C>A (p.Pro1513Gln)
c.4289C>A (p.Pro1430Gln)
c.4001C>A (p.Pro1334Gln)
c.2567C>A (p.Pro856Gln)
c.1730C>A (p.Pro577Gln)
c.1361C>A (p.Pro454Gln)
n.2872C>A
n.329C>A
c.4409C>A (p.Pro1470Gln)
n.2406C>A
c.1777C>A
c.1691C>A
n.1075C>A
c.1751C>A (p.Pro584Gln)
c.1910C>A (p.Pro637Gln)
c.4040C>A (p.Pro1347Gln)
c.4160C>A (p.Pro1387Gln)
c.3239C>A (p.Pro1080Gln)
c.3059C>A (p.Pro1020Gln)
c.2819C>A (p.Pro940Gln)
c.2438C>A (p.Pro813Gln)
c.1301C>A (p.Pro434Gln)
c.4370C>A (p.Pro1457Gln)
c.4271C>A (p.Pro1424Gln)
c.4241C>A (p.Pro1414Gln)
c.4211C>A (p.Pro1404Gln)
c.4082C>A (p.Pro1361Gln)
c.4061C>A (p.Pro1354Gln)
n.4427-1868C>A
6g.157198837C>GCA366239618ARID1Bc.4250C>G (p.Pro1417Arg)
c.4319C>G (p.Pro1440Arg)
c.4538C>G (p.Pro1513Arg)
c.4289C>G (p.Pro1430Arg)
c.4001C>G (p.Pro1334Arg)
c.2567C>G (p.Pro856Arg)
c.1730C>G (p.Pro577Arg)
c.1361C>G (p.Pro454Arg)
n.2872C>G
n.329C>G
c.4409C>G (p.Pro1470Arg)
n.2406C>G
c.1777C>G
c.1691C>G
n.1075C>G
c.1751C>G (p.Pro584Arg)
c.1910C>G (p.Pro637Arg)
c.4040C>G (p.Pro1347Arg)
c.4160C>G (p.Pro1387Arg)
c.3239C>G (p.Pro1080Arg)
c.3059C>G (p.Pro1020Arg)
c.2819C>G (p.Pro940Arg)
c.2438C>G (p.Pro813Arg)
c.1301C>G (p.Pro434Arg)
c.4370C>G (p.Pro1457Arg)
c.4271C>G (p.Pro1424Arg)
c.4241C>G (p.Pro1414Arg)
c.4211C>G (p.Pro1404Arg)
c.4082C>G (p.Pro1361Arg)
c.4061C>G (p.Pro1354Arg)
n.4427-1868C>G
6g.157198837C>TCA366239609ARID1Bc.4250C>T (p.Pro1417Leu)
c.4319C>T (p.Pro1440Leu)
c.4538C>T (p.Pro1513Leu)
c.4289C>T (p.Pro1430Leu)
c.4001C>T (p.Pro1334Leu)
c.2567C>T (p.Pro856Leu)
c.1730C>T (p.Pro577Leu)
c.1361C>T (p.Pro454Leu)
n.2872C>T
n.329C>T
c.4409C>T (p.Pro1470Leu)
n.2406C>T
c.1777C>T
c.1691C>T
n.1075C>T
c.1751C>T (p.Pro584Leu)
c.1910C>T (p.Pro637Leu)
c.4040C>T (p.Pro1347Leu)
c.4160C>T (p.Pro1387Leu)
c.3239C>T (p.Pro1080Leu)
c.3059C>T (p.Pro1020Leu)
c.2819C>T (p.Pro940Leu)
c.2438C>T (p.Pro813Leu)
c.1301C>T (p.Pro434Leu)
c.4370C>T (p.Pro1457Leu)
c.4271C>T (p.Pro1424Leu)
c.4241C>T (p.Pro1414Leu)
c.4211C>T (p.Pro1404Leu)
c.4082C>T (p.Pro1361Leu)
c.4061C>T (p.Pro1354Leu)
n.4427-1868C>T
6g.157198838A>CCA452783925ARID1Bc.4251A>C (p.Pro1417=)
c.4320A>C (p.Pro1440=)
c.4539A>C (p.Pro1513=)
c.4290A>C (p.Pro1430=)
c.4002A>C (p.Pro1334=)
c.2568A>C (p.Pro856=)
c.1731A>C (p.Pro577=)
c.1362A>C (p.Pro454=)
n.2873A>C
n.330A>C
c.4410A>C (p.Pro1470=)
n.2407A>C
c.1778A>C
c.1692A>C
n.1076A>C
c.1752A>C (p.Pro584=)
c.1911A>C (p.Pro637=)
c.4041A>C (p.Pro1347=)
c.4161A>C (p.Pro1387=)
c.3240A>C (p.Pro1080=)
c.3060A>C (p.Pro1020=)
c.2820A>C (p.Pro940=)
c.2439A>C (p.Pro813=)
c.1302A>C (p.Pro434=)
c.4371A>C (p.Pro1457=)
c.4272A>C (p.Pro1424=)
c.4242A>C (p.Pro1414=)
c.4212A>C (p.Pro1404=)
c.4083A>C (p.Pro1361=)
c.4062A>C (p.Pro1354=)
n.4427-1867A>C
gnomAD v4
6g.157198838A>GCA452783927ARID1Bc.4251A>G (p.Pro1417=)
c.4320A>G (p.Pro1440=)
c.4539A>G (p.Pro1513=)
c.4290A>G (p.Pro1430=)
c.4002A>G (p.Pro1334=)
c.2568A>G (p.Pro856=)
c.1731A>G (p.Pro577=)
c.1362A>G (p.Pro454=)
n.2873A>G
n.330A>G
c.4410A>G (p.Pro1470=)
n.2407A>G
c.1778A>G
c.1692A>G
n.1076A>G
c.1752A>G (p.Pro584=)
c.1911A>G (p.Pro637=)
c.4041A>G (p.Pro1347=)
c.4161A>G (p.Pro1387=)
c.3240A>G (p.Pro1080=)
c.3060A>G (p.Pro1020=)
c.2820A>G (p.Pro940=)
c.2439A>G (p.Pro813=)
c.1302A>G (p.Pro434=)
c.4371A>G (p.Pro1457=)
c.4272A>G (p.Pro1424=)
c.4242A>G (p.Pro1414=)
c.4212A>G (p.Pro1404=)
c.4083A>G (p.Pro1361=)
c.4062A>G (p.Pro1354=)
n.4427-1867A>G
dbSNP
6g.157198838A>TCA452783926ARID1Bc.4251A>T (p.Pro1417=)
c.4320A>T (p.Pro1440=)
c.4539A>T (p.Pro1513=)
c.4290A>T (p.Pro1430=)
c.4002A>T (p.Pro1334=)
c.2568A>T (p.Pro856=)
c.1731A>T (p.Pro577=)
c.1362A>T (p.Pro454=)
n.2873A>T
n.330A>T
c.4410A>T (p.Pro1470=)
n.2407A>T
c.1778A>T
c.1692A>T
n.1076A>T
c.1752A>T (p.Pro584=)
c.1911A>T (p.Pro637=)
c.4041A>T (p.Pro1347=)
c.4161A>T (p.Pro1387=)
c.3240A>T (p.Pro1080=)
c.3060A>T (p.Pro1020=)
c.2820A>T (p.Pro940=)
c.2439A>T (p.Pro813=)
c.1302A>T (p.Pro434=)
c.4371A>T (p.Pro1457=)
c.4272A>T (p.Pro1424=)
c.4242A>T (p.Pro1414=)
c.4212A>T (p.Pro1404=)
c.4083A>T (p.Pro1361=)
c.4062A>T (p.Pro1354=)
n.4427-1867A>T
dbSNP
6g.157198839G>ACA366239622ARID1Bc.4252G>A (p.Gly1418Ser)
c.4321G>A (p.Gly1441Ser)
c.4540G>A (p.Gly1514Ser)
c.4291G>A (p.Gly1431Ser)
c.4003G>A (p.Gly1335Ser)
c.2569G>A (p.Gly857Ser)
c.1732G>A (p.Gly578Ser)
c.1363G>A (p.Gly455Ser)
n.2874G>A
n.331G>A
c.4411G>A (p.Gly1471Ser)
n.2408G>A
c.1779G>A
c.1693G>A
n.1077G>A
c.1753G>A (p.Gly585Ser)
c.1912G>A (p.Gly638Ser)
c.4042G>A (p.Gly1348Ser)
c.4162G>A (p.Gly1388Ser)
c.3241G>A (p.Gly1081Ser)
c.3061G>A (p.Gly1021Ser)
c.2821G>A (p.Gly941Ser)
c.2440G>A (p.Gly814Ser)
c.1303G>A (p.Gly435Ser)
c.4372G>A (p.Gly1458Ser)
c.4273G>A (p.Gly1425Ser)
c.4243G>A (p.Gly1415Ser)
c.4213G>A (p.Gly1405Ser)
c.4084G>A (p.Gly1362Ser)
c.4063G>A (p.Gly1355Ser)
n.4427-1866G>A
dbSNP gnomAD v3 gnomAD v4
6g.157198839G>CCA366239624ARID1Bc.4252G>C (p.Gly1418Arg)
c.4321G>C (p.Gly1441Arg)
c.4540G>C (p.Gly1514Arg)
c.4291G>C (p.Gly1431Arg)
c.4003G>C (p.Gly1335Arg)
c.2569G>C (p.Gly857Arg)
c.1732G>C (p.Gly578Arg)
c.1363G>C (p.Gly455Arg)
n.2874G>C
n.331G>C
c.4411G>C (p.Gly1471Arg)
n.2408G>C
c.1779G>C
c.1693G>C
n.1077G>C
c.1753G>C (p.Gly585Arg)
c.1912G>C (p.Gly638Arg)
c.4042G>C (p.Gly1348Arg)
c.4162G>C (p.Gly1388Arg)
c.3241G>C (p.Gly1081Arg)
c.3061G>C (p.Gly1021Arg)
c.2821G>C (p.Gly941Arg)
c.2440G>C (p.Gly814Arg)
c.1303G>C (p.Gly435Arg)
c.4372G>C (p.Gly1458Arg)
c.4273G>C (p.Gly1425Arg)
c.4243G>C (p.Gly1415Arg)
c.4213G>C (p.Gly1405Arg)
c.4084G>C (p.Gly1362Arg)
c.4063G>C (p.Gly1355Arg)
n.4427-1866G>C
dbSNP
6g.157198839G=CA1675542224ARID1Bc.4252G= (p.Gly1418=)
c.4321G= (p.Gly1441=)
c.4540G= (p.Gly1514=)
c.4291G= (p.Gly1431=)
c.4003G= (p.Gly1335=)
c.2569G= (p.Gly857=)
c.1732G= (p.Gly578=)
c.1363G= (p.Gly455=)
n.2874G=
n.331G=
c.4411G= (p.Gly1471=)
n.2408G=
c.1779G=
c.1693G=
n.1077G=
c.1753G= (p.Gly585=)
c.1912G= (p.Gly638=)
c.4042G= (p.Gly1348=)
c.4162G= (p.Gly1388=)
c.3241G= (p.Gly1081=)
c.3061G= (p.Gly1021=)
c.2821G= (p.Gly941=)
c.2440G= (p.Gly814=)
c.1303G= (p.Gly435=)
c.4372G= (p.Gly1458=)
c.4273G= (p.Gly1425=)
c.4243G= (p.Gly1415=)
c.4213G= (p.Gly1405=)
c.4084G= (p.Gly1362=)
c.4063G= (p.Gly1355=)
n.4427-1866G=
6g.157198839G>TCA366239627ARID1Bc.4252G>T (p.Gly1418Cys)
c.4321G>T (p.Gly1441Cys)
c.4540G>T (p.Gly1514Cys)
c.4291G>T (p.Gly1431Cys)
c.4003G>T (p.Gly1335Cys)
c.2569G>T (p.Gly857Cys)
c.1732G>T (p.Gly578Cys)
c.1363G>T (p.Gly455Cys)
n.2874G>T
n.331G>T
c.4411G>T (p.Gly1471Cys)
n.2408G>T
c.1779G>T
c.1693G>T
n.1077G>T
c.1753G>T (p.Gly585Cys)
c.1912G>T (p.Gly638Cys)
c.4042G>T (p.Gly1348Cys)
c.4162G>T (p.Gly1388Cys)
c.3241G>T (p.Gly1081Cys)
c.3061G>T (p.Gly1021Cys)
c.2821G>T (p.Gly941Cys)
c.2440G>T (p.Gly814Cys)
c.1303G>T (p.Gly435Cys)
c.4372G>T (p.Gly1458Cys)
c.4273G>T (p.Gly1425Cys)
c.4243G>T (p.Gly1415Cys)
c.4213G>T (p.Gly1405Cys)
c.4084G>T (p.Gly1362Cys)
c.4063G>T (p.Gly1355Cys)
n.4427-1866G>T
dbSNP
6g.157198840G>ACA366239630ARID1Bc.4253G>A (p.Gly1418Asp)
c.4322G>A (p.Gly1441Asp)
c.4541G>A (p.Gly1514Asp)
c.4292G>A (p.Gly1431Asp)
c.4004G>A (p.Gly1335Asp)
c.2570G>A (p.Gly857Asp)
c.1733G>A (p.Gly578Asp)
c.1364G>A (p.Gly455Asp)
n.2875G>A
n.332G>A
c.4412G>A (p.Gly1471Asp)
n.2409G>A
c.1780G>A
c.1694G>A
n.1078G>A
c.1754G>A (p.Gly585Asp)
c.1913G>A (p.Gly638Asp)
c.4043G>A (p.Gly1348Asp)
c.4163G>A (p.Gly1388Asp)
c.3242G>A (p.Gly1081Asp)
c.3062G>A (p.Gly1021Asp)
c.2822G>A (p.Gly941Asp)
c.2441G>A (p.Gly814Asp)
c.1304G>A (p.Gly435Asp)
c.4373G>A (p.Gly1458Asp)
c.4274G>A (p.Gly1425Asp)
c.4244G>A (p.Gly1415Asp)
c.4214G>A (p.Gly1405Asp)
c.4085G>A (p.Gly1362Asp)
c.4064G>A (p.Gly1355Asp)
n.4427-1865G>A
dbSNP gnomAD v4
6g.157198840G>CCA366239633ARID1Bc.4253G>C (p.Gly1418Ala)
c.4322G>C (p.Gly1441Ala)
c.4541G>C (p.Gly1514Ala)
c.4292G>C (p.Gly1431Ala)
c.4004G>C (p.Gly1335Ala)
c.2570G>C (p.Gly857Ala)
c.1733G>C (p.Gly578Ala)
c.1364G>C (p.Gly455Ala)
n.2875G>C
n.332G>C
c.4412G>C (p.Gly1471Ala)
n.2409G>C
c.1780G>C
c.1694G>C
n.1078G>C
c.1754G>C (p.Gly585Ala)
c.1913G>C (p.Gly638Ala)
c.4043G>C (p.Gly1348Ala)
c.4163G>C (p.Gly1388Ala)
c.3242G>C (p.Gly1081Ala)
c.3062G>C (p.Gly1021Ala)
c.2822G>C (p.Gly941Ala)
c.2441G>C (p.Gly814Ala)
c.1304G>C (p.Gly435Ala)
c.4373G>C (p.Gly1458Ala)
c.4274G>C (p.Gly1425Ala)
c.4244G>C (p.Gly1415Ala)
c.4214G>C (p.Gly1405Ala)
c.4085G>C (p.Gly1362Ala)
c.4064G>C (p.Gly1355Ala)
n.4427-1865G>C
dbSNP
6g.157198840G>TCA366239637ARID1Bc.4253G>T (p.Gly1418Val)
c.4322G>T (p.Gly1441Val)
c.4541G>T (p.Gly1514Val)
c.4292G>T (p.Gly1431Val)
c.4004G>T (p.Gly1335Val)
c.2570G>T (p.Gly857Val)
c.1733G>T (p.Gly578Val)
c.1364G>T (p.Gly455Val)
n.2875G>T
n.332G>T
c.4412G>T (p.Gly1471Val)
n.2409G>T
c.1780G>T
c.1694G>T
n.1078G>T
c.1754G>T (p.Gly585Val)
c.1913G>T (p.Gly638Val)
c.4043G>T (p.Gly1348Val)
c.4163G>T (p.Gly1388Val)
c.3242G>T (p.Gly1081Val)
c.3062G>T (p.Gly1021Val)
c.2822G>T (p.Gly941Val)
c.2441G>T (p.Gly814Val)
c.1304G>T (p.Gly435Val)
c.4373G>T (p.Gly1458Val)
c.4274G>T (p.Gly1425Val)
c.4244G>T (p.Gly1415Val)
c.4214G>T (p.Gly1405Val)
c.4085G>T (p.Gly1362Val)
c.4064G>T (p.Gly1355Val)
n.4427-1865G>T
6g.157198841C>ACA452783928ARID1Bc.4254C>A (p.Gly1418=)
c.4323C>A (p.Gly1441=)
c.4542C>A (p.Gly1514=)
c.4293C>A (p.Gly1431=)
c.4005C>A (p.Gly1335=)
c.2571C>A (p.Gly857=)
c.1734C>A (p.Gly578=)
c.1365C>A (p.Gly455=)
n.2876C>A
n.333C>A
c.4413C>A (p.Gly1471=)
n.2410C>A
c.1781C>A
c.1695C>A
n.1079C>A
c.1755C>A (p.Gly585=)
c.1914C>A (p.Gly638=)
c.4044C>A (p.Gly1348=)
c.4164C>A (p.Gly1388=)
c.3243C>A (p.Gly1081=)
c.3063C>A (p.Gly1021=)
c.2823C>A (p.Gly941=)
c.2442C>A (p.Gly814=)
c.1305C>A (p.Gly435=)
c.4374C>A (p.Gly1458=)
c.4275C>A (p.Gly1425=)
c.4245C>A (p.Gly1415=)
c.4215C>A (p.Gly1405=)
c.4086C>A (p.Gly1362=)
c.4065C>A (p.Gly1355=)
n.4427-1864C>A
dbSNP
6g.157198841C=CA1675542225ARID1Bc.4254C= (p.Gly1418=)
c.4323C= (p.Gly1441=)
c.4542C= (p.Gly1514=)
c.4293C= (p.Gly1431=)
c.4005C= (p.Gly1335=)
c.2571C= (p.Gly857=)
c.1734C= (p.Gly578=)
c.1365C= (p.Gly455=)
n.2876C=
n.333C=
c.4413C= (p.Gly1471=)
n.2410C=
c.1781C=
c.1695C=
n.1079C=
c.1755C= (p.Gly585=)
c.1914C= (p.Gly638=)
c.4044C= (p.Gly1348=)
c.4164C= (p.Gly1388=)
c.3243C= (p.Gly1081=)
c.3063C= (p.Gly1021=)
c.2823C= (p.Gly941=)
c.2442C= (p.Gly814=)
c.1305C= (p.Gly435=)
c.4374C= (p.Gly1458=)
c.4275C= (p.Gly1425=)
c.4245C= (p.Gly1415=)
c.4215C= (p.Gly1405=)
c.4086C= (p.Gly1362=)
c.4065C= (p.Gly1355=)
n.4427-1864C=
6g.157198841C>GCA452783929ARID1Bc.4254C>G (p.Gly1418=)
c.4323C>G (p.Gly1441=)
c.4542C>G (p.Gly1514=)
c.4293C>G (p.Gly1431=)
c.4005C>G (p.Gly1335=)
c.2571C>G (p.Gly857=)
c.1734C>G (p.Gly578=)
c.1365C>G (p.Gly455=)
n.2876C>G
n.333C>G
c.4413C>G (p.Gly1471=)
n.2410C>G
c.1781C>G
c.1695C>G
n.1079C>G
c.1755C>G (p.Gly585=)
c.1914C>G (p.Gly638=)
c.4044C>G (p.Gly1348=)
c.4164C>G (p.Gly1388=)
c.3243C>G (p.Gly1081=)
c.3063C>G (p.Gly1021=)
c.2823C>G (p.Gly941=)
c.2442C>G (p.Gly814=)
c.1305C>G (p.Gly435=)
c.4374C>G (p.Gly1458=)
c.4275C>G (p.Gly1425=)
c.4245C>G (p.Gly1415=)
c.4215C>G (p.Gly1405=)
c.4086C>G (p.Gly1362=)
c.4065C>G (p.Gly1355=)
n.4427-1864C>G
dbSNP gnomAD v3 gnomAD v4
6g.157198841C>TCA452783930ARID1Bc.4254C>T (p.Gly1418=)
c.4323C>T (p.Gly1441=)
c.4542C>T (p.Gly1514=)
c.4293C>T (p.Gly1431=)
c.4005C>T (p.Gly1335=)
c.2571C>T (p.Gly857=)
c.1734C>T (p.Gly578=)
c.1365C>T (p.Gly455=)
n.2876C>T
n.333C>T
c.4413C>T (p.Gly1471=)
n.2410C>T
c.1781C>T
c.1695C>T
n.1079C>T
c.1755C>T (p.Gly585=)
c.1914C>T (p.Gly638=)
c.4044C>T (p.Gly1348=)
c.4164C>T (p.Gly1388=)
c.3243C>T (p.Gly1081=)
c.3063C>T (p.Gly1021=)
c.2823C>T (p.Gly941=)
c.2442C>T (p.Gly814=)
c.1305C>T (p.Gly435=)
c.4374C>T (p.Gly1458=)
c.4275C>T (p.Gly1425=)
c.4245C>T (p.Gly1415=)
c.4215C>T (p.Gly1405=)
c.4086C>T (p.Gly1362=)
c.4065C>T (p.Gly1355=)
n.4427-1864C>T
6g.157198842C>ACA366239655ARID1Bc.4255C>A (p.Gln1419Lys)
c.4324C>A (p.Gln1442Lys)
c.4543C>A (p.Gln1515Lys)
c.4294C>A (p.Gln1432Lys)
c.4006C>A (p.Gln1336Lys)
c.2572C>A (p.Gln858Lys)
c.1735C>A (p.Gln579Lys)
c.1366C>A (p.Gln456Lys)
n.2877C>A
n.334C>A
c.4414C>A (p.Gln1472Lys)
n.2411C>A
c.1782C>A
c.1696C>A
n.1080C>A
c.1756C>A (p.Gln586Lys)
c.1915C>A (p.Gln639Lys)
c.4045C>A (p.Gln1349Lys)
c.4165C>A (p.Gln1389Lys)
c.3244C>A (p.Gln1082Lys)
c.3064C>A (p.Gln1022Lys)
c.2824C>A (p.Gln942Lys)
c.2443C>A (p.Gln815Lys)
c.1306C>A (p.Gln436Lys)
c.4375C>A (p.Gln1459Lys)
c.4276C>A (p.Gln1426Lys)
c.4246C>A (p.Gln1416Lys)
c.4216C>A (p.Gln1406Lys)
c.4087C>A (p.Gln1363Lys)
c.4066C>A (p.Gln1356Lys)
n.4427-1863C>A
6g.157198842C=CA1675542226ARID1Bc.4255C= (p.Gln1419=)
c.4324C= (p.Gln1442=)
c.4543C= (p.Gln1515=)
c.4294C= (p.Gln1432=)
c.4006C= (p.Gln1336=)
c.2572C= (p.Gln858=)
c.1735C= (p.Gln579=)
c.1366C= (p.Gln456=)
n.2877C=
n.334C=
c.4414C= (p.Gln1472=)
n.2411C=
c.1782C=
c.1696C=
n.1080C=
c.1756C= (p.Gln586=)
c.1915C= (p.Gln639=)
c.4045C= (p.Gln1349=)
c.4165C= (p.Gln1389=)
c.3244C= (p.Gln1082=)
c.3064C= (p.Gln1022=)
c.2824C= (p.Gln942=)
c.2443C= (p.Gln815=)
c.1306C= (p.Gln436=)
c.4375C= (p.Gln1459=)
c.4276C= (p.Gln1426=)
c.4246C= (p.Gln1416=)
c.4216C= (p.Gln1406=)
c.4087C= (p.Gln1363=)
c.4066C= (p.Gln1356=)
n.4427-1863C=
6g.157198842C>GCA366239639ARID1Bc.4255C>G (p.Gln1419Glu)
c.4324C>G (p.Gln1442Glu)
c.4543C>G (p.Gln1515Glu)
c.4294C>G (p.Gln1432Glu)
c.4006C>G (p.Gln1336Glu)
c.2572C>G (p.Gln858Glu)
c.1735C>G (p.Gln579Glu)
c.1366C>G (p.Gln456Glu)
n.2877C>G
n.334C>G
c.4414C>G (p.Gln1472Glu)
n.2411C>G
c.1782C>G
c.1696C>G
n.1080C>G
c.1756C>G (p.Gln586Glu)
c.1915C>G (p.Gln639Glu)
c.4045C>G (p.Gln1349Glu)
c.4165C>G (p.Gln1389Glu)
c.3244C>G (p.Gln1082Glu)
c.3064C>G (p.Gln1022Glu)
c.2824C>G (p.Gln942Glu)
c.2443C>G (p.Gln815Glu)
c.1306C>G (p.Gln436Glu)
c.4375C>G (p.Gln1459Glu)
c.4276C>G (p.Gln1426Glu)
c.4246C>G (p.Gln1416Glu)
c.4216C>G (p.Gln1406Glu)
c.4087C>G (p.Gln1363Glu)
c.4066C>G (p.Gln1356Glu)
n.4427-1863C>G
dbSNP
6g.157198842C>TCA366239651ARID1Bc.4255C>T (p.Gln1419Ter)
c.4324C>T (p.Gln1442Ter)
c.4543C>T (p.Gln1515Ter)
c.4294C>T (p.Gln1432Ter)
c.4006C>T (p.Gln1336Ter)
c.2572C>T (p.Gln858Ter)
c.1735C>T (p.Gln579Ter)
c.1366C>T (p.Gln456Ter)
n.2877C>T
n.334C>T
c.4414C>T (p.Gln1472Ter)
n.2411C>T
c.1782C>T
c.1696C>T
n.1080C>T
c.1756C>T (p.Gln586Ter)
c.1915C>T (p.Gln639Ter)
c.4045C>T (p.Gln1349Ter)
c.4165C>T (p.Gln1389Ter)
c.3244C>T (p.Gln1082Ter)
c.3064C>T (p.Gln1022Ter)
c.2824C>T (p.Gln942Ter)
c.2443C>T (p.Gln815Ter)
c.1306C>T (p.Gln436Ter)
c.4375C>T (p.Gln1459Ter)
c.4276C>T (p.Gln1426Ter)
c.4246C>T (p.Gln1416Ter)
c.4216C>T (p.Gln1406Ter)
c.4087C>T (p.Gln1363Ter)
c.4066C>T (p.Gln1356Ter)
n.4427-1863C>T
dbSNP
6g.157198843A>CCA366239658ARID1Bc.4256A>C (p.Gln1419Pro)
c.4325A>C (p.Gln1442Pro)
c.4544A>C (p.Gln1515Pro)
c.4295A>C (p.Gln1432Pro)
c.4007A>C (p.Gln1336Pro)
c.2573A>C (p.Gln858Pro)
c.1736A>C (p.Gln579Pro)
c.1367A>C (p.Gln456Pro)
n.2878A>C
n.335A>C
c.4415A>C (p.Gln1472Pro)
n.2412A>C
c.1783A>C
c.1697A>C
n.1081A>C
c.1757A>C (p.Gln586Pro)
c.1916A>C (p.Gln639Pro)
c.4046A>C (p.Gln1349Pro)
c.4166A>C (p.Gln1389Pro)
c.3245A>C (p.Gln1082Pro)
c.3065A>C (p.Gln1022Pro)
c.2825A>C (p.Gln942Pro)
c.2444A>C (p.Gln815Pro)
c.1307A>C (p.Gln436Pro)
c.4376A>C (p.Gln1459Pro)
c.4277A>C (p.Gln1426Pro)
c.4247A>C (p.Gln1416Pro)
c.4217A>C (p.Gln1406Pro)
c.4088A>C (p.Gln1363Pro)
c.4067A>C (p.Gln1356Pro)
n.4427-1862A>C
dbSNP
6g.157198843A>GCA366239661ARID1Bc.4256A>G (p.Gln1419Arg)
c.4325A>G (p.Gln1442Arg)
c.4544A>G (p.Gln1515Arg)
c.4295A>G (p.Gln1432Arg)
c.4007A>G (p.Gln1336Arg)
c.2573A>G (p.Gln858Arg)
c.1736A>G (p.Gln579Arg)
c.1367A>G (p.Gln456Arg)
n.2878A>G
n.335A>G
c.4415A>G (p.Gln1472Arg)
n.2412A>G
c.1783A>G
c.1697A>G
n.1081A>G
c.1757A>G (p.Gln586Arg)
c.1916A>G (p.Gln639Arg)
c.4046A>G (p.Gln1349Arg)
c.4166A>G (p.Gln1389Arg)
c.3245A>G (p.Gln1082Arg)
c.3065A>G (p.Gln1022Arg)
c.2825A>G (p.Gln942Arg)
c.2444A>G (p.Gln815Arg)
c.1307A>G (p.Gln436Arg)
c.4376A>G (p.Gln1459Arg)
c.4277A>G (p.Gln1426Arg)
c.4247A>G (p.Gln1416Arg)
c.4217A>G (p.Gln1406Arg)
c.4088A>G (p.Gln1363Arg)
c.4067A>G (p.Gln1356Arg)
n.4427-1862A>G
6g.157198843A>TCA366239663ARID1Bc.4256A>T (p.Gln1419Leu)
c.4325A>T (p.Gln1442Leu)
c.4544A>T (p.Gln1515Leu)
c.4295A>T (p.Gln1432Leu)
c.4007A>T (p.Gln1336Leu)
c.2573A>T (p.Gln858Leu)
c.1736A>T (p.Gln579Leu)
c.1367A>T (p.Gln456Leu)
n.2878A>T
n.335A>T
c.4415A>T (p.Gln1472Leu)
n.2412A>T
c.1783A>T
c.1697A>T
n.1081A>T
c.1757A>T (p.Gln586Leu)
c.1916A>T (p.Gln639Leu)
c.4046A>T (p.Gln1349Leu)
c.4166A>T (p.Gln1389Leu)
c.3245A>T (p.Gln1082Leu)
c.3065A>T (p.Gln1022Leu)
c.2825A>T (p.Gln942Leu)
c.2444A>T (p.Gln815Leu)
c.1307A>T (p.Gln436Leu)
c.4376A>T (p.Gln1459Leu)
c.4277A>T (p.Gln1426Leu)
c.4247A>T (p.Gln1416Leu)
c.4217A>T (p.Gln1406Leu)
c.4088A>T (p.Gln1363Leu)
c.4067A>T (p.Gln1356Leu)
n.4427-1862A>T
6g.157198844A>CCA366239666ARID1Bc.4257A>C (p.Gln1419His)
c.4326A>C (p.Gln1442His)
c.4545A>C (p.Gln1515His)
c.4296A>C (p.Gln1432His)
c.4008A>C (p.Gln1336His)
c.2574A>C (p.Gln858His)
c.1737A>C (p.Gln579His)
c.1368A>C (p.Gln456His)
n.2879A>C
n.336A>C
c.4416A>C (p.Gln1472His)
n.2413A>C
c.1784A>C
c.1698A>C
n.1082A>C
c.1758A>C (p.Gln586His)
c.1917A>C (p.Gln639His)
c.4047A>C (p.Gln1349His)
c.4167A>C (p.Gln1389His)
c.3246A>C (p.Gln1082His)
c.3066A>C (p.Gln1022His)
c.2826A>C (p.Gln942His)
c.2445A>C (p.Gln815His)
c.1308A>C (p.Gln436His)
c.4377A>C (p.Gln1459His)
c.4278A>C (p.Gln1426His)
c.4248A>C (p.Gln1416His)
c.4218A>C (p.Gln1406His)
c.4089A>C (p.Gln1363His)
c.4068A>C (p.Gln1356His)
n.4427-1861A>C
dbSNP gnomAD v4
6g.157198844A>GCA452783931ARID1Bc.4257A>G (p.Gln1419=)
c.4326A>G (p.Gln1442=)
c.4545A>G (p.Gln1515=)
c.4296A>G (p.Gln1432=)
c.4008A>G (p.Gln1336=)
c.2574A>G (p.Gln858=)
c.1737A>G (p.Gln579=)
c.1368A>G (p.Gln456=)
n.2879A>G
n.336A>G
c.4416A>G (p.Gln1472=)
n.2413A>G
c.1784A>G
c.1698A>G
n.1082A>G
c.1758A>G (p.Gln586=)
c.1917A>G (p.Gln639=)
c.4047A>G (p.Gln1349=)
c.4167A>G (p.Gln1389=)
c.3246A>G (p.Gln1082=)
c.3066A>G (p.Gln1022=)
c.2826A>G (p.Gln942=)
c.2445A>G (p.Gln815=)
c.1308A>G (p.Gln436=)
c.4377A>G (p.Gln1459=)
c.4278A>G (p.Gln1426=)
c.4248A>G (p.Gln1416=)
c.4218A>G (p.Gln1406=)
c.4089A>G (p.Gln1363=)
c.4068A>G (p.Gln1356=)
n.4427-1861A>G
dbSNP
6g.157198844A>TCA366239667ARID1Bc.4257A>T (p.Gln1419His)
c.4326A>T (p.Gln1442His)
c.4545A>T (p.Gln1515His)
c.4296A>T (p.Gln1432His)
c.4008A>T (p.Gln1336His)
c.2574A>T (p.Gln858His)
c.1737A>T (p.Gln579His)
c.1368A>T (p.Gln456His)
n.2879A>T
n.336A>T
c.4416A>T (p.Gln1472His)
n.2413A>T
c.1784A>T
c.1698A>T
n.1082A>T
c.1758A>T (p.Gln586His)
c.1917A>T (p.Gln639His)
c.4047A>T (p.Gln1349His)
c.4167A>T (p.Gln1389His)
c.3246A>T (p.Gln1082His)
c.3066A>T (p.Gln1022His)
c.2826A>T (p.Gln942His)
c.2445A>T (p.Gln815His)
c.1308A>T (p.Gln436His)
c.4377A>T (p.Gln1459His)
c.4278A>T (p.Gln1426His)
c.4248A>T (p.Gln1416His)
c.4218A>T (p.Gln1406His)
c.4089A>T (p.Gln1363His)
c.4068A>T (p.Gln1356His)
n.4427-1861A>T
dbSNP
6g.157198845G>ACA366239670ARID1Bc.4258G>A (p.Gly1420Ser)
c.4327G>A (p.Gly1443Ser)
c.4546G>A (p.Gly1516Ser)
c.4297G>A (p.Gly1433Ser)
c.4009G>A (p.Gly1337Ser)
c.2575G>A (p.Gly859Ser)
c.1738G>A (p.Gly580Ser)
c.1369G>A (p.Gly457Ser)
n.2880G>A
n.337G>A
c.4417G>A (p.Gly1473Ser)
n.2414G>A
c.1785G>A
c.1699G>A
n.1083G>A
c.1759G>A (p.Gly587Ser)
c.1918G>A (p.Gly640Ser)
c.4048G>A (p.Gly1350Ser)
c.4168G>A (p.Gly1390Ser)
c.3247G>A (p.Gly1083Ser)
c.3067G>A (p.Gly1023Ser)
c.2827G>A (p.Gly943Ser)
c.2446G>A (p.Gly816Ser)
c.1309G>A (p.Gly437Ser)
c.4378G>A (p.Gly1460Ser)
c.4279G>A (p.Gly1427Ser)
c.4249G>A (p.Gly1417Ser)
c.4219G>A (p.Gly1407Ser)
c.4090G>A (p.Gly1364Ser)
c.4069G>A (p.Gly1357Ser)
n.4427-1860G>A
dbSNP
6g.157198845G>CCA366239672ARID1Bc.4258G>C (p.Gly1420Arg)
c.4327G>C (p.Gly1443Arg)
c.4546G>C (p.Gly1516Arg)
c.4297G>C (p.Gly1433Arg)
c.4009G>C (p.Gly1337Arg)
c.2575G>C (p.Gly859Arg)
c.1738G>C (p.Gly580Arg)
c.1369G>C (p.Gly457Arg)
n.2880G>C
n.337G>C
c.4417G>C (p.Gly1473Arg)
n.2414G>C
c.1785G>C
c.1699G>C
n.1083G>C
c.1759G>C (p.Gly587Arg)
c.1918G>C (p.Gly640Arg)
c.4048G>C (p.Gly1350Arg)
c.4168G>C (p.Gly1390Arg)
c.3247G>C (p.Gly1083Arg)
c.3067G>C (p.Gly1023Arg)
c.2827G>C (p.Gly943Arg)
c.2446G>C (p.Gly816Arg)
c.1309G>C (p.Gly437Arg)
c.4378G>C (p.Gly1460Arg)
c.4279G>C (p.Gly1427Arg)
c.4249G>C (p.Gly1417Arg)
c.4219G>C (p.Gly1407Arg)
c.4090G>C (p.Gly1364Arg)
c.4069G>C (p.Gly1357Arg)
n.4427-1860G>C
6g.157198845G=CA1675542227ARID1Bc.4258G= (p.Gly1420=)
c.4327G= (p.Gly1443=)
c.4546G= (p.Gly1516=)
c.4297G= (p.Gly1433=)
c.4009G= (p.Gly1337=)
c.2575G= (p.Gly859=)
c.1738G= (p.Gly580=)
c.1369G= (p.Gly457=)
n.2880G=
n.337G=
c.4417G= (p.Gly1473=)
n.2414G=
c.1785G=
c.1699G=
n.1083G=
c.1759G= (p.Gly587=)
c.1918G= (p.Gly640=)
c.4048G= (p.Gly1350=)
c.4168G= (p.Gly1390=)
c.3247G= (p.Gly1083=)
c.3067G= (p.Gly1023=)
c.2827G= (p.Gly943=)
c.2446G= (p.Gly816=)
c.1309G= (p.Gly437=)
c.4378G= (p.Gly1460=)
c.4279G= (p.Gly1427=)
c.4249G= (p.Gly1417=)
c.4219G= (p.Gly1407=)
c.4090G= (p.Gly1364=)
c.4069G= (p.Gly1357=)
n.4427-1860G=
6g.157198845G>TCA366239671ARID1Bc.4258G>T (p.Gly1420Cys)
c.4327G>T (p.Gly1443Cys)
c.4546G>T (p.Gly1516Cys)
c.4297G>T (p.Gly1433Cys)
c.4009G>T (p.Gly1337Cys)
c.2575G>T (p.Gly859Cys)
c.1738G>T (p.Gly580Cys)
c.1369G>T (p.Gly457Cys)
n.2880G>T
n.337G>T
c.4417G>T (p.Gly1473Cys)
n.2414G>T
c.1785G>T
c.1699G>T
n.1083G>T
c.1759G>T (p.Gly587Cys)
c.1918G>T (p.Gly640Cys)
c.4048G>T (p.Gly1350Cys)
c.4168G>T (p.Gly1390Cys)
c.3247G>T (p.Gly1083Cys)
c.3067G>T (p.Gly1023Cys)
c.2827G>T (p.Gly943Cys)
c.2446G>T (p.Gly816Cys)
c.1309G>T (p.Gly437Cys)
c.4378G>T (p.Gly1460Cys)
c.4279G>T (p.Gly1427Cys)
c.4249G>T (p.Gly1417Cys)
c.4219G>T (p.Gly1407Cys)
c.4090G>T (p.Gly1364Cys)
c.4069G>T (p.Gly1357Cys)
n.4427-1860G>T
dbSNP
6g.157198845_157198846insCCA2739289473ARID1Bc.4258_4259insC (p.Gly1420AlafsTer?)
c.4327_4328insC (p.Gly1443AlafsTer?)
c.4546_4547insC (p.Gly1516AlafsTer?)
c.4297_4298insC (p.Gly1433AlafsTer?)
c.4009_4010insC (p.Gly1337AlafsTer?)
c.2575_2576insC (p.Gly859AlafsTer?)
c.1738_1739insC (p.Gly580AlafsTer?)
c.1369_1370insC (p.Gly457AlafsTer?)
n.2880_2881insC
n.337_338insC
c.4417_4418insC (p.Gly1473AlafsTer?)
n.2414_2415insC
c.1785_1786insC
c.1699_1700insC
n.1083_1084insC
c.1759_1760insC (p.Gly587AlafsTer?)
c.1918_1919insC (p.Gly640AlafsTer?)
c.4048_4049insC (p.Gly1350AlafsTer?)
c.4168_4169insC (p.Gly1390AlafsTer?)
c.3247_3248insC (p.Gly1083AlafsTer?)
c.3067_3068insC (p.Gly1023AlafsTer?)
c.2827_2828insC (p.Gly943AlafsTer?)
c.2446_2447insC (p.Gly816AlafsTer?)
c.1309_1310insC (p.Gly437AlafsTer?)
c.4378_4379insC (p.Gly1460AlafsTer?)
c.4279_4280insC (p.Gly1427AlafsTer?)
c.4249_4250insC (p.Gly1417AlafsTer?)
c.4219_4220insC (p.Gly1407AlafsTer?)
c.4090_4091insC (p.Gly1364AlafsTer?)
c.4069_4070insC (p.Gly1357AlafsTer?)
n.4427-1860_4427-1859insC
6g.157198846G>ACA366239674ARID1Bc.4259G>A (p.Gly1420Asp)
c.4328G>A (p.Gly1443Asp)
c.4547G>A (p.Gly1516Asp)
c.4298G>A (p.Gly1433Asp)
c.4010G>A (p.Gly1337Asp)
c.2576G>A (p.Gly859Asp)
c.1739G>A (p.Gly580Asp)
c.1370G>A (p.Gly457Asp)
n.2881G>A
n.338G>A
c.4418G>A (p.Gly1473Asp)
n.2415G>A
c.1786G>A
c.1700G>A
n.1084G>A
c.1760G>A (p.Gly587Asp)
c.1919G>A (p.Gly640Asp)
c.4049G>A (p.Gly1350Asp)
c.4169G>A (p.Gly1390Asp)
c.3248G>A (p.Gly1083Asp)
c.3068G>A (p.Gly1023Asp)
c.2828G>A (p.Gly943Asp)
c.2447G>A (p.Gly816Asp)
c.1310G>A (p.Gly437Asp)
c.4379G>A (p.Gly1460Asp)
c.4280G>A (p.Gly1427Asp)
c.4250G>A (p.Gly1417Asp)
c.4220G>A (p.Gly1407Asp)
c.4091G>A (p.Gly1364Asp)
c.4070G>A (p.Gly1357Asp)
n.4427-1859G>A
dbSNP gnomAD v3 gnomAD v4
6g.157198846G>CCA366239676ARID1Bc.4259G>C (p.Gly1420Ala)
c.4328G>C (p.Gly1443Ala)
c.4547G>C (p.Gly1516Ala)
c.4298G>C (p.Gly1433Ala)
c.4010G>C (p.Gly1337Ala)
c.2576G>C (p.Gly859Ala)
c.1739G>C (p.Gly580Ala)
c.1370G>C (p.Gly457Ala)
n.2881G>C
n.338G>C
c.4418G>C (p.Gly1473Ala)
n.2415G>C
c.1786G>C
c.1700G>C
n.1084G>C
c.1760G>C (p.Gly587Ala)
c.1919G>C (p.Gly640Ala)
c.4049G>C (p.Gly1350Ala)
c.4169G>C (p.Gly1390Ala)
c.3248G>C (p.Gly1083Ala)
c.3068G>C (p.Gly1023Ala)
c.2828G>C (p.Gly943Ala)
c.2447G>C (p.Gly816Ala)
c.1310G>C (p.Gly437Ala)
c.4379G>C (p.Gly1460Ala)
c.4280G>C (p.Gly1427Ala)
c.4250G>C (p.Gly1417Ala)
c.4220G>C (p.Gly1407Ala)
c.4091G>C (p.Gly1364Ala)
c.4070G>C (p.Gly1357Ala)
n.4427-1859G>C
dbSNP
6g.157198846G=CA1675542228ARID1Bc.4259G= (p.Gly1420=)
c.4328G= (p.Gly1443=)
c.4547G= (p.Gly1516=)
c.4298G= (p.Gly1433=)
c.4010G= (p.Gly1337=)
c.2576G= (p.Gly859=)
c.1739G= (p.Gly580=)
c.1370G= (p.Gly457=)
n.2881G=
n.338G=
c.4418G= (p.Gly1473=)
n.2415G=
c.1786G=
c.1700G=
n.1084G=
c.1760G= (p.Gly587=)
c.1919G= (p.Gly640=)
c.4049G= (p.Gly1350=)
c.4169G= (p.Gly1390=)
c.3248G= (p.Gly1083=)
c.3068G= (p.Gly1023=)
c.2828G= (p.Gly943=)
c.2447G= (p.Gly816=)
c.1310G= (p.Gly437=)
c.4379G= (p.Gly1460=)
c.4280G= (p.Gly1427=)
c.4250G= (p.Gly1417=)
c.4220G= (p.Gly1407=)
c.4091G= (p.Gly1364=)
c.4070G= (p.Gly1357=)
n.4427-1859G=
6g.157198846G>TCA366239680ARID1Bc.4259G>T (p.Gly1420Val)
c.4328G>T (p.Gly1443Val)
c.4547G>T (p.Gly1516Val)
c.4298G>T (p.Gly1433Val)
c.4010G>T (p.Gly1337Val)
c.2576G>T (p.Gly859Val)
c.1739G>T (p.Gly580Val)
c.1370G>T (p.Gly457Val)
n.2881G>T
n.338G>T
c.4418G>T (p.Gly1473Val)
n.2415G>T
c.1786G>T
c.1700G>T
n.1084G>T
c.1760G>T (p.Gly587Val)
c.1919G>T (p.Gly640Val)
c.4049G>T (p.Gly1350Val)
c.4169G>T (p.Gly1390Val)
c.3248G>T (p.Gly1083Val)
c.3068G>T (p.Gly1023Val)
c.2828G>T (p.Gly943Val)
c.2447G>T (p.Gly816Val)
c.1310G>T (p.Gly437Val)
c.4379G>T (p.Gly1460Val)
c.4280G>T (p.Gly1427Val)
c.4250G>T (p.Gly1417Val)
c.4220G>T (p.Gly1407Val)
c.4091G>T (p.Gly1364Val)
c.4070G>T (p.Gly1357Val)
n.4427-1859G>T
gnomAD v4
6g.157198847C>ACA452783932ARID1Bc.4260C>A (p.Gly1420=)
c.4329C>A (p.Gly1443=)
c.4548C>A (p.Gly1516=)
c.4299C>A (p.Gly1433=)
c.4011C>A (p.Gly1337=)
c.2577C>A (p.Gly859=)
c.1740C>A (p.Gly580=)
c.1371C>A (p.Gly457=)
n.2882C>A
n.339C>A
c.4419C>A (p.Gly1473=)
n.2416C>A
c.1787C>A
c.1701C>A
n.1085C>A
c.1761C>A (p.Gly587=)
c.1920C>A (p.Gly640=)
c.4050C>A (p.Gly1350=)
c.4170C>A (p.Gly1390=)
c.3249C>A (p.Gly1083=)
c.3069C>A (p.Gly1023=)
c.2829C>A (p.Gly943=)
c.2448C>A (p.Gly816=)
c.1311C>A (p.Gly437=)
c.4380C>A (p.Gly1460=)
c.4281C>A (p.Gly1427=)
c.4251C>A (p.Gly1417=)
c.4221C>A (p.Gly1407=)
c.4092C>A (p.Gly1364=)
c.4071C>A (p.Gly1357=)
n.4427-1858C>A
gnomAD v4
6g.157198847C=CA1675542229ARID1Bc.4260C= (p.Gly1420=)
c.4329C= (p.Gly1443=)
c.4548C= (p.Gly1516=)
c.4299C= (p.Gly1433=)
c.4011C= (p.Gly1337=)
c.2577C= (p.Gly859=)
c.1740C= (p.Gly580=)
c.1371C= (p.Gly457=)
n.2882C=
n.339C=
c.4419C= (p.Gly1473=)
n.2416C=
c.1787C=
c.1701C=
n.1085C=
c.1761C= (p.Gly587=)
c.1920C= (p.Gly640=)
c.4050C= (p.Gly1350=)
c.4170C= (p.Gly1390=)
c.3249C= (p.Gly1083=)
c.3069C= (p.Gly1023=)
c.2829C= (p.Gly943=)
c.2448C= (p.Gly816=)
c.1311C= (p.Gly437=)
c.4380C= (p.Gly1460=)
c.4281C= (p.Gly1427=)
c.4251C= (p.Gly1417=)
c.4221C= (p.Gly1407=)
c.4092C= (p.Gly1364=)
c.4071C= (p.Gly1357=)
n.4427-1858C=
6g.157198847C>GCA452783933ARID1Bc.4260C>G (p.Gly1420=)
c.4329C>G (p.Gly1443=)
c.4548C>G (p.Gly1516=)
c.4299C>G (p.Gly1433=)
c.4011C>G (p.Gly1337=)
c.2577C>G (p.Gly859=)
c.1740C>G (p.Gly580=)
c.1371C>G (p.Gly457=)
n.2882C>G
n.339C>G
c.4419C>G (p.Gly1473=)
n.2416C>G
c.1787C>G
c.1701C>G
n.1085C>G
c.1761C>G (p.Gly587=)
c.1920C>G (p.Gly640=)
c.4050C>G (p.Gly1350=)
c.4170C>G (p.Gly1390=)
c.3249C>G (p.Gly1083=)
c.3069C>G (p.Gly1023=)
c.2829C>G (p.Gly943=)
c.2448C>G (p.Gly816=)
c.1311C>G (p.Gly437=)
c.4380C>G (p.Gly1460=)
c.4281C>G (p.Gly1427=)
c.4251C>G (p.Gly1417=)
c.4221C>G (p.Gly1407=)
c.4092C>G (p.Gly1364=)
c.4071C>G (p.Gly1357=)
n.4427-1858C>G
dbSNP gnomAD v3 gnomAD v4
6g.157198847C>TCA452783934ARID1Bc.4260C>T (p.Gly1420=)
c.4329C>T (p.Gly1443=)
c.4548C>T (p.Gly1516=)
c.4299C>T (p.Gly1433=)
c.4011C>T (p.Gly1337=)
c.2577C>T (p.Gly859=)
c.1740C>T (p.Gly580=)
c.1371C>T (p.Gly457=)
n.2882C>T
n.339C>T
c.4419C>T (p.Gly1473=)
n.2416C>T
c.1787C>T
c.1701C>T
n.1085C>T
c.1761C>T (p.Gly587=)
c.1920C>T (p.Gly640=)
c.4050C>T (p.Gly1350=)
c.4170C>T (p.Gly1390=)
c.3249C>T (p.Gly1083=)
c.3069C>T (p.Gly1023=)
c.2829C>T (p.Gly943=)
c.2448C>T (p.Gly816=)
c.1311C>T (p.Gly437=)
c.4380C>T (p.Gly1460=)
c.4281C>T (p.Gly1427=)
c.4251C>T (p.Gly1417=)
c.4221C>T (p.Gly1407=)
c.4092C>T (p.Gly1364=)
c.4071C>T (p.Gly1357=)
n.4427-1858C>T
dbSNP
6g.157198848C>ACA366239686ARID1Bc.4261C>A (p.Pro1421Thr)
c.4330C>A (p.Pro1444Thr)
c.4549C>A (p.Pro1517Thr)
c.4300C>A (p.Pro1434Thr)
c.4012C>A (p.Pro1338Thr)
c.2578C>A (p.Pro860Thr)
c.1741C>A (p.Pro581Thr)
c.1372C>A (p.Pro458Thr)
n.2883C>A
n.340C>A
c.4420C>A (p.Pro1474Thr)
n.2417C>A
c.1788C>A
c.1702C>A
n.1086C>A
c.1762C>A (p.Pro588Thr)
c.1921C>A (p.Pro641Thr)
c.4051C>A (p.Pro1351Thr)
c.4171C>A (p.Pro1391Thr)
c.3250C>A (p.Pro1084Thr)
c.3070C>A (p.Pro1024Thr)
c.2830C>A (p.Pro944Thr)
c.2449C>A (p.Pro817Thr)
c.1312C>A (p.Pro438Thr)
c.4381C>A (p.Pro1461Thr)
c.4282C>A (p.Pro1428Thr)
c.4252C>A (p.Pro1418Thr)
c.4222C>A (p.Pro1408Thr)
c.4093C>A (p.Pro1365Thr)
c.4072C>A (p.Pro1358Thr)
n.4427-1857C>A
dbSNP
6g.157198848C>GCA366239689ARID1Bc.4261C>G (p.Pro1421Ala)
c.4330C>G (p.Pro1444Ala)
c.4549C>G (p.Pro1517Ala)
c.4300C>G (p.Pro1434Ala)
c.4012C>G (p.Pro1338Ala)
c.2578C>G (p.Pro860Ala)
c.1741C>G (p.Pro581Ala)
c.1372C>G (p.Pro458Ala)
n.2883C>G
n.340C>G
c.4420C>G (p.Pro1474Ala)
n.2417C>G
c.1788C>G
c.1702C>G
n.1086C>G
c.1762C>G (p.Pro588Ala)
c.1921C>G (p.Pro641Ala)
c.4051C>G (p.Pro1351Ala)
c.4171C>G (p.Pro1391Ala)
c.3250C>G (p.Pro1084Ala)
c.3070C>G (p.Pro1024Ala)
c.2830C>G (p.Pro944Ala)
c.2449C>G (p.Pro817Ala)
c.1312C>G (p.Pro438Ala)
c.4381C>G (p.Pro1461Ala)
c.4282C>G (p.Pro1428Ala)
c.4252C>G (p.Pro1418Ala)
c.4222C>G (p.Pro1408Ala)
c.4093C>G (p.Pro1365Ala)
c.4072C>G (p.Pro1358Ala)
n.4427-1857C>G
6g.157198848C>TCA366239692ARID1Bc.4261C>T (p.Pro1421Ser)
c.4330C>T (p.Pro1444Ser)
c.4549C>T (p.Pro1517Ser)
c.4300C>T (p.Pro1434Ser)
c.4012C>T (p.Pro1338Ser)
c.2578C>T (p.Pro860Ser)
c.1741C>T (p.Pro581Ser)
c.1372C>T (p.Pro458Ser)
n.2883C>T
n.340C>T
c.4420C>T (p.Pro1474Ser)
n.2417C>T
c.1788C>T
c.1702C>T
n.1086C>T
c.1762C>T (p.Pro588Ser)
c.1921C>T (p.Pro641Ser)
c.4051C>T (p.Pro1351Ser)
c.4171C>T (p.Pro1391Ser)
c.3250C>T (p.Pro1084Ser)
c.3070C>T (p.Pro1024Ser)
c.2830C>T (p.Pro944Ser)
c.2449C>T (p.Pro817Ser)
c.1312C>T (p.Pro438Ser)
c.4381C>T (p.Pro1461Ser)
c.4282C>T (p.Pro1428Ser)
c.4252C>T (p.Pro1418Ser)
c.4222C>T (p.Pro1408Ser)
c.4093C>T (p.Pro1365Ser)
c.4072C>T (p.Pro1358Ser)
n.4427-1857C>T
6g.157198850_157198851insACCTCA645564745ARID1Bc.4263_4264insACCT (p.Pro1422ThrfsTer?)
c.4332_4333insACCT (p.Pro1445ThrfsTer?)
c.4551_4552insACCT (p.Pro1518ThrfsTer?)
c.4302_4303insACCT (p.Pro1435ThrfsTer?)
c.4014_4015insACCT (p.Pro1339ThrfsTer?)
c.2580_2581insACCT (p.Pro861ThrfsTer?)
c.1743_1744insACCT (p.Pro582ThrfsTer?)
c.1374_1375insACCT (p.Pro459ThrfsTer?)
n.2885_2886insACCT
n.342_343insACCT
c.4422_4423insACCT (p.Pro1475ThrfsTer?)
n.2419_2420insACCT
c.1790_1791insACCT
c.1704_1705insACCT
n.1088_1089insACCT
c.1764_1765insACCT (p.Pro589ThrfsTer?)
c.1923_1924insACCT (p.Pro642ThrfsTer?)
c.4053_4054insACCT (p.Pro1352ThrfsTer?)
c.4173_4174insACCT (p.Pro1392ThrfsTer?)
c.3252_3253insACCT (p.Pro1085ThrfsTer?)
c.3072_3073insACCT (p.Pro1025ThrfsTer?)
c.2832_2833insACCT (p.Pro945ThrfsTer?)
c.2451_2452insACCT (p.Pro818ThrfsTer?)
c.1314_1315insACCT (p.Pro439ThrfsTer?)
c.4383_4384insACCT (p.Pro1462ThrfsTer?)
c.4284_4285insACCT (p.Pro1429ThrfsTer?)
c.4254_4255insACCT (p.Pro1419ThrfsTer?)
c.4224_4225insACCT (p.Pro1409ThrfsTer?)
c.4095_4096insACCT (p.Pro1366ThrfsTer?)
c.4074_4075insACCT (p.Pro1359ThrfsTer?)
n.4427-1855_4427-1854insACCT
COSMIC COSMIC
6g.157198849C>ACA366239696ARID1Bc.4262C>A (p.Pro1421His)
c.4331C>A (p.Pro1444His)
c.4550C>A (p.Pro1517His)
c.4301C>A (p.Pro1434His)
c.4013C>A (p.Pro1338His)
c.2579C>A (p.Pro860His)
c.1742C>A (p.Pro581His)
c.1373C>A (p.Pro458His)
n.2884C>A
n.341C>A
c.4421C>A (p.Pro1474His)
n.2418C>A
c.1789C>A
c.1703C>A
n.1087C>A
c.1763C>A (p.Pro588His)
c.1922C>A (p.Pro641His)
c.4052C>A (p.Pro1351His)
c.4172C>A (p.Pro1391His)
c.3251C>A (p.Pro1084His)
c.3071C>A (p.Pro1024His)
c.2831C>A (p.Pro944His)
c.2450C>A (p.Pro817His)
c.1313C>A (p.Pro438His)
c.4382C>A (p.Pro1461His)
c.4283C>A (p.Pro1428His)
c.4253C>A (p.Pro1418His)
c.4223C>A (p.Pro1408His)
c.4094C>A (p.Pro1365His)
c.4073C>A (p.Pro1358His)
n.4427-1856C>A
6g.157198849C=CA1675542230ARID1Bc.4262C= (p.Pro1421=)
c.4331C= (p.Pro1444=)
c.4550C= (p.Pro1517=)
c.4301C= (p.Pro1434=)
c.4013C= (p.Pro1338=)
c.2579C= (p.Pro860=)
c.1742C= (p.Pro581=)
c.1373C= (p.Pro458=)
n.2884C=
n.341C=
c.4421C= (p.Pro1474=)
n.2418C=
c.1789C=
c.1703C=
n.1087C=
c.1763C= (p.Pro588=)
c.1922C= (p.Pro641=)
c.4052C= (p.Pro1351=)
c.4172C= (p.Pro1391=)
c.3251C= (p.Pro1084=)
c.3071C= (p.Pro1024=)
c.2831C= (p.Pro944=)
c.2450C= (p.Pro817=)
c.1313C= (p.Pro438=)
c.4382C= (p.Pro1461=)
c.4283C= (p.Pro1428=)
c.4253C= (p.Pro1418=)
c.4223C= (p.Pro1408=)
c.4094C= (p.Pro1365=)
c.4073C= (p.Pro1358=)
n.4427-1856C=
6g.157198849C>GCA366239699ARID1Bc.4262C>G (p.Pro1421Arg)
c.4331C>G (p.Pro1444Arg)
c.4550C>G (p.Pro1517Arg)
c.4301C>G (p.Pro1434Arg)
c.4013C>G (p.Pro1338Arg)
c.2579C>G (p.Pro860Arg)
c.1742C>G (p.Pro581Arg)
c.1373C>G (p.Pro458Arg)
n.2884C>G
n.341C>G
c.4421C>G (p.Pro1474Arg)
n.2418C>G
c.1789C>G
c.1703C>G
n.1087C>G
c.1763C>G (p.Pro588Arg)
c.1922C>G (p.Pro641Arg)
c.4052C>G (p.Pro1351Arg)
c.4172C>G (p.Pro1391Arg)
c.3251C>G (p.Pro1084Arg)
c.3071C>G (p.Pro1024Arg)
c.2831C>G (p.Pro944Arg)
c.2450C>G (p.Pro817Arg)
c.1313C>G (p.Pro438Arg)
c.4382C>G (p.Pro1461Arg)
c.4283C>G (p.Pro1428Arg)
c.4253C>G (p.Pro1418Arg)
c.4223C>G (p.Pro1408Arg)
c.4094C>G (p.Pro1365Arg)
c.4073C>G (p.Pro1358Arg)
n.4427-1856C>G
dbSNP
6g.157198849C>TCA366239702ARID1Bc.4262C>T (p.Pro1421Leu)
c.4331C>T (p.Pro1444Leu)
c.4550C>T (p.Pro1517Leu)
c.4301C>T (p.Pro1434Leu)
c.4013C>T (p.Pro1338Leu)
c.2579C>T (p.Pro860Leu)
c.1742C>T (p.Pro581Leu)
c.1373C>T (p.Pro458Leu)
n.2884C>T
n.341C>T
c.4421C>T (p.Pro1474Leu)
n.2418C>T
c.1789C>T
c.1703C>T
n.1087C>T
c.1763C>T (p.Pro588Leu)
c.1922C>T (p.Pro641Leu)
c.4052C>T (p.Pro1351Leu)
c.4172C>T (p.Pro1391Leu)
c.3251C>T (p.Pro1084Leu)
c.3071C>T (p.Pro1024Leu)
c.2831C>T (p.Pro944Leu)
c.2450C>T (p.Pro817Leu)
c.1313C>T (p.Pro438Leu)
c.4382C>T (p.Pro1461Leu)
c.4283C>T (p.Pro1428Leu)
c.4253C>T (p.Pro1418Leu)
c.4223C>T (p.Pro1408Leu)
c.4094C>T (p.Pro1365Leu)
c.4073C>T (p.Pro1358Leu)
n.4427-1856C>T
dbSNP gnomAD v2 gnomAD v4
6g.157198850T>ACA452783935ARID1Bc.4263T>A (p.Pro1421=)
c.4332T>A (p.Pro1444=)
c.4551T>A (p.Pro1517=)
c.4302T>A (p.Pro1434=)
c.4014T>A (p.Pro1338=)
c.2580T>A (p.Pro860=)
c.1743T>A (p.Pro581=)
c.1374T>A (p.Pro458=)
n.2885T>A
n.342T>A
c.4422T>A (p.Pro1474=)
n.2419T>A
c.1790T>A
c.1704T>A
n.1088T>A
c.1764T>A (p.Pro588=)
c.1923T>A (p.Pro641=)
c.4053T>A (p.Pro1351=)
c.4173T>A (p.Pro1391=)
c.3252T>A (p.Pro1084=)
c.3072T>A (p.Pro1024=)
c.2832T>A (p.Pro944=)
c.2451T>A (p.Pro817=)
c.1314T>A (p.Pro438=)
c.4383T>A (p.Pro1461=)
c.4284T>A (p.Pro1428=)
c.4254T>A (p.Pro1418=)
c.4224T>A (p.Pro1408=)
c.4095T>A (p.Pro1365=)
c.4074T>A (p.Pro1358=)
n.4427-1855T>A
dbSNP
6g.157198850T>CCA452783936ARID1Bc.4263T>C (p.Pro1421=)
c.4332T>C (p.Pro1444=)
c.4551T>C (p.Pro1517=)
c.4302T>C (p.Pro1434=)
c.4014T>C (p.Pro1338=)
c.2580T>C (p.Pro860=)
c.1743T>C (p.Pro581=)
c.1374T>C (p.Pro458=)
n.2885T>C
n.342T>C
c.4422T>C (p.Pro1474=)
n.2419T>C
c.1790T>C
c.1704T>C
n.1088T>C
c.1764T>C (p.Pro588=)
c.1923T>C (p.Pro641=)
c.4053T>C (p.Pro1351=)
c.4173T>C (p.Pro1391=)
c.3252T>C (p.Pro1084=)
c.3072T>C (p.Pro1024=)
c.2832T>C (p.Pro944=)
c.2451T>C (p.Pro817=)
c.1314T>C (p.Pro438=)
c.4383T>C (p.Pro1461=)
c.4284T>C (p.Pro1428=)
c.4254T>C (p.Pro1418=)
c.4224T>C (p.Pro1408=)
c.4095T>C (p.Pro1365=)
c.4074T>C (p.Pro1358=)
n.4427-1855T>C
dbSNP
6g.157198850T>GCA452783937ARID1Bc.4263T>G (p.Pro1421=)
c.4332T>G (p.Pro1444=)
c.4551T>G (p.Pro1517=)
c.4302T>G (p.Pro1434=)
c.4014T>G (p.Pro1338=)
c.2580T>G (p.Pro860=)
c.1743T>G (p.Pro581=)
c.1374T>G (p.Pro458=)
n.2885T>G
n.342T>G
c.4422T>G (p.Pro1474=)
n.2419T>G
c.1790T>G
c.1704T>G
n.1088T>G
c.1764T>G (p.Pro588=)
c.1923T>G (p.Pro641=)
c.4053T>G (p.Pro1351=)
c.4173T>G (p.Pro1391=)
c.3252T>G (p.Pro1084=)
c.3072T>G (p.Pro1024=)
c.2832T>G (p.Pro944=)
c.2451T>G (p.Pro817=)
c.1314T>G (p.Pro438=)
c.4383T>G (p.Pro1461=)
c.4284T>G (p.Pro1428=)
c.4254T>G (p.Pro1418=)
c.4224T>G (p.Pro1408=)
c.4095T>G (p.Pro1365=)
c.4074T>G (p.Pro1358=)
n.4427-1855T>G
6g.157198851C>ACA366239705ARID1Bc.4264C>A (p.Pro1422Thr)
c.4333C>A (p.Pro1445Thr)
c.4552C>A (p.Pro1518Thr)
c.4303C>A (p.Pro1435Thr)
c.4015C>A (p.Pro1339Thr)
c.2581C>A (p.Pro861Thr)
c.1744C>A (p.Pro582Thr)
c.1375C>A (p.Pro459Thr)
n.2886C>A
n.343C>A
c.4423C>A (p.Pro1475Thr)
n.2420C>A
c.1791C>A
c.1705C>A
n.1089C>A
c.1765C>A (p.Pro589Thr)
c.1924C>A (p.Pro642Thr)
c.4054C>A (p.Pro1352Thr)
c.4174C>A (p.Pro1392Thr)
c.3253C>A (p.Pro1085Thr)
c.3073C>A (p.Pro1025Thr)
c.2833C>A (p.Pro945Thr)
c.2452C>A (p.Pro818Thr)
c.1315C>A (p.Pro439Thr)
c.4384C>A (p.Pro1462Thr)
c.4285C>A (p.Pro1429Thr)
c.4255C>A (p.Pro1419Thr)
c.4225C>A (p.Pro1409Thr)
c.4096C>A (p.Pro1366Thr)
c.4075C>A (p.Pro1359Thr)
n.4427-1854C>A
6g.157198851C>GCA366239706ARID1Bc.4264C>G (p.Pro1422Ala)
c.4333C>G (p.Pro1445Ala)
c.4552C>G (p.Pro1518Ala)
c.4303C>G (p.Pro1435Ala)
c.4015C>G (p.Pro1339Ala)
c.2581C>G (p.Pro861Ala)
c.1744C>G (p.Pro582Ala)
c.1375C>G (p.Pro459Ala)
n.2886C>G
n.343C>G
c.4423C>G (p.Pro1475Ala)
n.2420C>G
c.1791C>G
c.1705C>G
n.1089C>G
c.1765C>G (p.Pro589Ala)
c.1924C>G (p.Pro642Ala)
c.4054C>G (p.Pro1352Ala)
c.4174C>G (p.Pro1392Ala)
c.3253C>G (p.Pro1085Ala)
c.3073C>G (p.Pro1025Ala)
c.2833C>G (p.Pro945Ala)
c.2452C>G (p.Pro818Ala)
c.1315C>G (p.Pro439Ala)
c.4384C>G (p.Pro1462Ala)
c.4285C>G (p.Pro1429Ala)
c.4255C>G (p.Pro1419Ala)
c.4225C>G (p.Pro1409Ala)
c.4096C>G (p.Pro1366Ala)
c.4075C>G (p.Pro1359Ala)
n.4427-1854C>G
6g.157198851C>TCA366239707ARID1Bc.4264C>T (p.Pro1422Ser)
c.4333C>T (p.Pro1445Ser)
c.4552C>T (p.Pro1518Ser)
c.4303C>T (p.Pro1435Ser)
c.4015C>T (p.Pro1339Ser)
c.2581C>T (p.Pro861Ser)
c.1744C>T (p.Pro582Ser)
c.1375C>T (p.Pro459Ser)
n.2886C>T
n.343C>T
c.4423C>T (p.Pro1475Ser)
n.2420C>T
c.1791C>T
c.1705C>T
n.1089C>T
c.1765C>T (p.Pro589Ser)
c.1924C>T (p.Pro642Ser)
c.4054C>T (p.Pro1352Ser)
c.4174C>T (p.Pro1392Ser)
c.3253C>T (p.Pro1085Ser)
c.3073C>T (p.Pro1025Ser)
c.2833C>T (p.Pro945Ser)
c.2452C>T (p.Pro818Ser)
c.1315C>T (p.Pro439Ser)
c.4384C>T (p.Pro1462Ser)
c.4285C>T (p.Pro1429Ser)
c.4255C>T (p.Pro1419Ser)
c.4225C>T (p.Pro1409Ser)
c.4096C>T (p.Pro1366Ser)
c.4075C>T (p.Pro1359Ser)
n.4427-1854C>T
dbSNP COSMIC COSMIC
6g.157198852C>ACA366239713ARID1Bc.4265C>A (p.Pro1422His)
c.4334C>A (p.Pro1445His)
c.4553C>A (p.Pro1518His)
c.4304C>A (p.Pro1435His)
c.4016C>A (p.Pro1339His)
c.2582C>A (p.Pro861His)
c.1745C>A (p.Pro582His)
c.1376C>A (p.Pro459His)
n.2887C>A
n.344C>A
c.4424C>A (p.Pro1475His)
n.2421C>A
c.1792C>A
c.1706C>A
n.1090C>A
c.1766C>A (p.Pro589His)
c.1925C>A (p.Pro642His)
c.4055C>A (p.Pro1352His)
c.4175C>A (p.Pro1392His)
c.3254C>A (p.Pro1085His)
c.3074C>A (p.Pro1025His)
c.2834C>A (p.Pro945His)
c.2453C>A (p.Pro818His)
c.1316C>A (p.Pro439His)
c.4385C>A (p.Pro1462His)
c.4286C>A (p.Pro1429His)
c.4256C>A (p.Pro1419His)
c.4226C>A (p.Pro1409His)
c.4097C>A (p.Pro1366His)
c.4076C>A (p.Pro1359His)
n.4427-1853C>A
dbSNP
6g.157198852C>GCA366239712ARID1Bc.4265C>G (p.Pro1422Arg)
c.4334C>G (p.Pro1445Arg)
c.4553C>G (p.Pro1518Arg)
c.4304C>G (p.Pro1435Arg)
c.4016C>G (p.Pro1339Arg)
c.2582C>G (p.Pro861Arg)
c.1745C>G (p.Pro582Arg)
c.1376C>G (p.Pro459Arg)
n.2887C>G
n.344C>G
c.4424C>G (p.Pro1475Arg)
n.2421C>G
c.1792C>G
c.1706C>G
n.1090C>G
c.1766C>G (p.Pro589Arg)
c.1925C>G (p.Pro642Arg)
c.4055C>G (p.Pro1352Arg)
c.4175C>G (p.Pro1392Arg)
c.3254C>G (p.Pro1085Arg)
c.3074C>G (p.Pro1025Arg)
c.2834C>G (p.Pro945Arg)
c.2453C>G (p.Pro818Arg)
c.1316C>G (p.Pro439Arg)
c.4385C>G (p.Pro1462Arg)
c.4286C>G (p.Pro1429Arg)
c.4256C>G (p.Pro1419Arg)
c.4226C>G (p.Pro1409Arg)
c.4097C>G (p.Pro1366Arg)
c.4076C>G (p.Pro1359Arg)
n.4427-1853C>G
dbSNP
6g.157198852C>TCA366239711ARID1Bc.4265C>T (p.Pro1422Leu)
c.4334C>T (p.Pro1445Leu)
c.4553C>T (p.Pro1518Leu)
c.4304C>T (p.Pro1435Leu)
c.4016C>T (p.Pro1339Leu)
c.2582C>T (p.Pro861Leu)
c.1745C>T (p.Pro582Leu)
c.1376C>T (p.Pro459Leu)
n.2887C>T
n.344C>T
c.4424C>T (p.Pro1475Leu)
n.2421C>T
c.1792C>T
c.1706C>T
n.1090C>T
c.1766C>T (p.Pro589Leu)
c.1925C>T (p.Pro642Leu)
c.4055C>T (p.Pro1352Leu)
c.4175C>T (p.Pro1392Leu)
c.3254C>T (p.Pro1085Leu)
c.3074C>T (p.Pro1025Leu)
c.2834C>T (p.Pro945Leu)
c.2453C>T (p.Pro818Leu)
c.1316C>T (p.Pro439Leu)
c.4385C>T (p.Pro1462Leu)
c.4286C>T (p.Pro1429Leu)
c.4256C>T (p.Pro1419Leu)
c.4226C>T (p.Pro1409Leu)
c.4097C>T (p.Pro1366Leu)
c.4076C>T (p.Pro1359Leu)
n.4427-1853C>T
dbSNP
6g.157198853C>ACA452783938ARID1Bc.4266C>A (p.Pro1422=)
c.4335C>A (p.Pro1445=)
c.4554C>A (p.Pro1518=)
c.4305C>A (p.Pro1435=)
c.4017C>A (p.Pro1339=)
c.2583C>A (p.Pro861=)
c.1746C>A (p.Pro582=)
c.1377C>A (p.Pro459=)
n.2888C>A
n.345C>A
c.4425C>A (p.Pro1475=)
n.2422C>A
c.1793C>A
c.1707C>A
n.1091C>A
c.1767C>A (p.Pro589=)
c.1926C>A (p.Pro642=)
c.4056C>A (p.Pro1352=)
c.4176C>A (p.Pro1392=)
c.3255C>A (p.Pro1085=)
c.3075C>A (p.Pro1025=)
c.2835C>A (p.Pro945=)
c.2454C>A (p.Pro818=)
c.1317C>A (p.Pro439=)
c.4386C>A (p.Pro1462=)
c.4287C>A (p.Pro1429=)
c.4257C>A (p.Pro1419=)
c.4227C>A (p.Pro1409=)
c.4098C>A (p.Pro1366=)
c.4077C>A (p.Pro1359=)
n.4427-1852C>A
dbSNP
6g.157198853C=CA1675542231ARID1Bc.4266C= (p.Pro1422=)
c.4335C= (p.Pro1445=)
c.4554C= (p.Pro1518=)
c.4305C= (p.Pro1435=)
c.4017C= (p.Pro1339=)
c.2583C= (p.Pro861=)
c.1746C= (p.Pro582=)
c.1377C= (p.Pro459=)
n.2888C=
n.345C=
c.4425C= (p.Pro1475=)
n.2422C=
c.1793C=
c.1707C=
n.1091C=
c.1767C= (p.Pro589=)
c.1926C= (p.Pro642=)
c.4056C= (p.Pro1352=)
c.4176C= (p.Pro1392=)
c.3255C= (p.Pro1085=)
c.3075C= (p.Pro1025=)
c.2835C= (p.Pro945=)
c.2454C= (p.Pro818=)
c.1317C= (p.Pro439=)
c.4386C= (p.Pro1462=)
c.4287C= (p.Pro1429=)
c.4257C= (p.Pro1419=)
c.4227C= (p.Pro1409=)
c.4098C= (p.Pro1366=)
c.4077C= (p.Pro1359=)
n.4427-1852C=
6g.157198853C>GCA452783939ARID1Bc.4266C>G (p.Pro1422=)
c.4335C>G (p.Pro1445=)
c.4554C>G (p.Pro1518=)
c.4305C>G (p.Pro1435=)
c.4017C>G (p.Pro1339=)
c.2583C>G (p.Pro861=)
c.1746C>G (p.Pro582=)
c.1377C>G (p.Pro459=)
n.2888C>G
n.345C>G
c.4425C>G (p.Pro1475=)
n.2422C>G
c.1793C>G
c.1707C>G
n.1091C>G
c.1767C>G (p.Pro589=)
c.1926C>G (p.Pro642=)
c.4056C>G (p.Pro1352=)
c.4176C>G (p.Pro1392=)
c.3255C>G (p.Pro1085=)
c.3075C>G (p.Pro1025=)
c.2835C>G (p.Pro945=)
c.2454C>G (p.Pro818=)
c.1317C>G (p.Pro439=)
c.4386C>G (p.Pro1462=)
c.4287C>G (p.Pro1429=)
c.4257C>G (p.Pro1419=)
c.4227C>G (p.Pro1409=)
c.4098C>G (p.Pro1366=)
c.4077C>G (p.Pro1359=)
n.4427-1852C>G
dbSNP
6g.157198853C>TCA452783940ARID1Bc.4266C>T (p.Pro1422=)
c.4335C>T (p.Pro1445=)
c.4554C>T (p.Pro1518=)
c.4305C>T (p.Pro1435=)
c.4017C>T (p.Pro1339=)
c.2583C>T (p.Pro861=)
c.1746C>T (p.Pro582=)
c.1377C>T (p.Pro459=)
n.2888C>T
n.345C>T
c.4425C>T (p.Pro1475=)
n.2422C>T
c.1793C>T
c.1707C>T
n.1091C>T
c.1767C>T (p.Pro589=)
c.1926C>T (p.Pro642=)
c.4056C>T (p.Pro1352=)
c.4176C>T (p.Pro1392=)
c.3255C>T (p.Pro1085=)
c.3075C>T (p.Pro1025=)
c.2835C>T (p.Pro945=)
c.2454C>T (p.Pro818=)
c.1317C>T (p.Pro439=)
c.4386C>T (p.Pro1462=)
c.4287C>T (p.Pro1429=)
c.4257C>T (p.Pro1419=)
c.4227C>T (p.Pro1409=)
c.4098C>T (p.Pro1366=)
c.4077C>T (p.Pro1359=)
n.4427-1852C>T
dbSNP gnomAD v4 COSMIC COSMIC
6g.157198854T>ACA366239715ARID1Bc.4267T>A (p.Ser1423Thr)
c.4336T>A (p.Ser1446Thr)
c.4555T>A (p.Ser1519Thr)
c.4306T>A (p.Ser1436Thr)
c.4018T>A (p.Ser1340Thr)
c.2584T>A (p.Ser862Thr)
c.1747T>A (p.Ser583Thr)
c.1378T>A (p.Ser460Thr)
n.2889T>A
n.346T>A
c.4426T>A (p.Ser1476Thr)
n.2423T>A
c.1794T>A
c.1708T>A
n.1092T>A
c.1768T>A (p.Ser590Thr)
c.1927T>A (p.Ser643Thr)
c.4057T>A (p.Ser1353Thr)
c.4177T>A (p.Ser1393Thr)
c.3256T>A (p.Ser1086Thr)
c.3076T>A (p.Ser1026Thr)
c.2836T>A (p.Ser946Thr)
c.2455T>A (p.Ser819Thr)
c.1318T>A (p.Ser440Thr)
c.4387T>A (p.Ser1463Thr)
c.4288T>A (p.Ser1430Thr)
c.4258T>A (p.Ser1420Thr)
c.4228T>A (p.Ser1410Thr)
c.4099T>A (p.Ser1367Thr)
c.4078T>A (p.Ser1360Thr)
n.4427-1851T>A
dbSNP
6g.157198854T>CCA366239727ARID1Bc.4267T>C (p.Ser1423Pro)
c.4336T>C (p.Ser1446Pro)
c.4555T>C (p.Ser1519Pro)
c.4306T>C (p.Ser1436Pro)
c.4018T>C (p.Ser1340Pro)
c.2584T>C (p.Ser862Pro)
c.1747T>C (p.Ser583Pro)
c.1378T>C (p.Ser460Pro)
n.2889T>C
n.346T>C
c.4426T>C (p.Ser1476Pro)
n.2423T>C
c.1794T>C
c.1708T>C
n.1092T>C
c.1768T>C (p.Ser590Pro)
c.1927T>C (p.Ser643Pro)
c.4057T>C (p.Ser1353Pro)
c.4177T>C (p.Ser1393Pro)
c.3256T>C (p.Ser1086Pro)
c.3076T>C (p.Ser1026Pro)
c.2836T>C (p.Ser946Pro)
c.2455T>C (p.Ser819Pro)
c.1318T>C (p.Ser440Pro)
c.4387T>C (p.Ser1463Pro)
c.4288T>C (p.Ser1430Pro)
c.4258T>C (p.Ser1420Pro)
c.4228T>C (p.Ser1410Pro)
c.4099T>C (p.Ser1367Pro)
c.4078T>C (p.Ser1360Pro)
n.4427-1851T>C
dbSNP
6g.157198854T>GCA366239720ARID1Bc.4267T>G (p.Ser1423Ala)
c.4336T>G (p.Ser1446Ala)
c.4555T>G (p.Ser1519Ala)
c.4306T>G (p.Ser1436Ala)
c.4018T>G (p.Ser1340Ala)
c.2584T>G (p.Ser862Ala)
c.1747T>G (p.Ser583Ala)
c.1378T>G (p.Ser460Ala)
n.2889T>G
n.346T>G
c.4426T>G (p.Ser1476Ala)
n.2423T>G
c.1794T>G
c.1708T>G
n.1092T>G
c.1768T>G (p.Ser590Ala)
c.1927T>G (p.Ser643Ala)
c.4057T>G (p.Ser1353Ala)
c.4177T>G (p.Ser1393Ala)
c.3256T>G (p.Ser1086Ala)
c.3076T>G (p.Ser1026Ala)
c.2836T>G (p.Ser946Ala)
c.2455T>G (p.Ser819Ala)
c.1318T>G (p.Ser440Ala)
c.4387T>G (p.Ser1463Ala)
c.4288T>G (p.Ser1430Ala)
c.4258T>G (p.Ser1420Ala)
c.4228T>G (p.Ser1410Ala)
c.4099T>G (p.Ser1367Ala)
c.4078T>G (p.Ser1360Ala)
n.4427-1851T>G
6g.157198855C>ACA366239730ARID1Bc.4268C>A (p.Ser1423Ter)
c.4337C>A (p.Ser1446Ter)
c.4556C>A (p.Ser1519Ter)
c.4307C>A (p.Ser1436Ter)
c.4019C>A (p.Ser1340Ter)
c.2585C>A (p.Ser862Ter)
c.1748C>A (p.Ser583Ter)
c.1379C>A (p.Ser460Ter)
n.2890C>A
n.347C>A
c.4427C>A (p.Ser1476Ter)
n.2424C>A
c.1795C>A
c.1709C>A
n.1093C>A
c.1769C>A (p.Ser590Ter)
c.1928C>A (p.Ser643Ter)
c.4058C>A (p.Ser1353Ter)
c.4178C>A (p.Ser1393Ter)
c.3257C>A (p.Ser1086Ter)
c.3077C>A (p.Ser1026Ter)
c.2837C>A (p.Ser946Ter)
c.2456C>A (p.Ser819Ter)
c.1319C>A (p.Ser440Ter)
c.4388C>A (p.Ser1463Ter)
c.4289C>A (p.Ser1430Ter)
c.4259C>A (p.Ser1420Ter)
c.4229C>A (p.Ser1410Ter)
c.4100C>A (p.Ser1367Ter)
c.4079C>A (p.Ser1360Ter)
n.4427-1850C>A
dbSNP gnomAD v4
6g.157198855C=CA1675542232ARID1Bc.4268C= (p.Ser1423=)
c.4337C= (p.Ser1446=)
c.4556C= (p.Ser1519=)
c.4307C= (p.Ser1436=)
c.4019C= (p.Ser1340=)
c.2585C= (p.Ser862=)
c.1748C= (p.Ser583=)
c.1379C= (p.Ser460=)
n.2890C=
n.347C=
c.4427C= (p.Ser1476=)
n.2424C=
c.1795C=
c.1709C=
n.1093C=
c.1769C= (p.Ser590=)
c.1928C= (p.Ser643=)
c.4058C= (p.Ser1353=)
c.4178C= (p.Ser1393=)
c.3257C= (p.Ser1086=)
c.3077C= (p.Ser1026=)
c.2837C= (p.Ser946=)
c.2456C= (p.Ser819=)
c.1319C= (p.Ser440=)
c.4388C= (p.Ser1463=)
c.4289C= (p.Ser1430=)
c.4259C= (p.Ser1420=)
c.4229C= (p.Ser1410=)
c.4100C= (p.Ser1367=)
c.4079C= (p.Ser1360=)
n.4427-1850C=
6g.157198855C>GCA366239736ARID1Bc.4268C>G (p.Ser1423Trp)
c.4337C>G (p.Ser1446Trp)
c.4556C>G (p.Ser1519Trp)
c.4307C>G (p.Ser1436Trp)
c.4019C>G (p.Ser1340Trp)
c.2585C>G (p.Ser862Trp)
c.1748C>G (p.Ser583Trp)
c.1379C>G (p.Ser460Trp)
n.2890C>G
n.347C>G
c.4427C>G (p.Ser1476Trp)
n.2424C>G
c.1795C>G
c.1709C>G
n.1093C>G
c.1769C>G (p.Ser590Trp)
c.1928C>G (p.Ser643Trp)
c.4058C>G (p.Ser1353Trp)
c.4178C>G (p.Ser1393Trp)
c.3257C>G (p.Ser1086Trp)
c.3077C>G (p.Ser1026Trp)
c.2837C>G (p.Ser946Trp)
c.2456C>G (p.Ser819Trp)
c.1319C>G (p.Ser440Trp)
c.4388C>G (p.Ser1463Trp)
c.4289C>G (p.Ser1430Trp)
c.4259C>G (p.Ser1420Trp)
c.4229C>G (p.Ser1410Trp)
c.4100C>G (p.Ser1367Trp)
c.4079C>G (p.Ser1360Trp)
n.4427-1850C>G
dbSNP
6g.157198855C>TCA366239734ARID1Bc.4268C>T (p.Ser1423Leu)
c.4337C>T (p.Ser1446Leu)
c.4556C>T (p.Ser1519Leu)
c.4307C>T (p.Ser1436Leu)
c.4019C>T (p.Ser1340Leu)
c.2585C>T (p.Ser862Leu)
c.1748C>T (p.Ser583Leu)
c.1379C>T (p.Ser460Leu)
n.2890C>T
n.347C>T
c.4427C>T (p.Ser1476Leu)
n.2424C>T
c.1795C>T
c.1709C>T
n.1093C>T
c.1769C>T (p.Ser590Leu)
c.1928C>T (p.Ser643Leu)
c.4058C>T (p.Ser1353Leu)
c.4178C>T (p.Ser1393Leu)
c.3257C>T (p.Ser1086Leu)
c.3077C>T (p.Ser1026Leu)
c.2837C>T (p.Ser946Leu)
c.2456C>T (p.Ser819Leu)
c.1319C>T (p.Ser440Leu)
c.4388C>T (p.Ser1463Leu)
c.4289C>T (p.Ser1430Leu)
c.4259C>T (p.Ser1420Leu)
c.4229C>T (p.Ser1410Leu)
c.4100C>T (p.Ser1367Leu)
c.4079C>T (p.Ser1360Leu)
n.4427-1850C>T
dbSNP gnomAD v4
6g.157198856G>ACA452783941ARID1Bc.4269G>A (p.Ser1423=)
c.4338G>A (p.Ser1446=)
c.4557G>A (p.Ser1519=)
c.4308G>A (p.Ser1436=)
c.4020G>A (p.Ser1340=)
c.2586G>A (p.Ser862=)
c.1749G>A (p.Ser583=)
c.1380G>A (p.Ser460=)
n.2891G>A
n.348G>A
c.4428G>A (p.Ser1476=)
n.2425G>A
c.1796G>A
c.1710G>A
n.1094G>A
c.1770G>A (p.Ser590=)
c.1929G>A (p.Ser643=)
c.4059G>A (p.Ser1353=)
c.4179G>A (p.Ser1393=)
c.3258G>A (p.Ser1086=)
c.3078G>A (p.Ser1026=)
c.2838G>A (p.Ser946=)
c.2457G>A (p.Ser819=)
c.1320G>A (p.Ser440=)
c.4389G>A (p.Ser1463=)
c.4290G>A (p.Ser1430=)
c.4260G>A (p.Ser1420=)
c.4230G>A (p.Ser1410=)
c.4101G>A (p.Ser1367=)
c.4080G>A (p.Ser1360=)
n.4427-1849G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.157198856G>CCA452783942ARID1Bc.4269G>C (p.Ser1423=)
c.4338G>C (p.Ser1446=)
c.4557G>C (p.Ser1519=)
c.4308G>C (p.Ser1436=)
c.4020G>C (p.Ser1340=)
c.2586G>C (p.Ser862=)
c.1749G>C (p.Ser583=)
c.1380G>C (p.Ser460=)
n.2891G>C
n.348G>C
c.4428G>C (p.Ser1476=)
n.2425G>C
c.1796G>C
c.1710G>C
n.1094G>C
c.1770G>C (p.Ser590=)
c.1929G>C (p.Ser643=)
c.4059G>C (p.Ser1353=)
c.4179G>C (p.Ser1393=)
c.3258G>C (p.Ser1086=)
c.3078G>C (p.Ser1026=)
c.2838G>C (p.Ser946=)
c.2457G>C (p.Ser819=)
c.1320G>C (p.Ser440=)
c.4389G>C (p.Ser1463=)
c.4290G>C (p.Ser1430=)
c.4260G>C (p.Ser1420=)
c.4230G>C (p.Ser1410=)
c.4101G>C (p.Ser1367=)
c.4080G>C (p.Ser1360=)
n.4427-1849G>C
dbSNP
6g.157198856G=CA1675542233ARID1Bc.4269G= (p.Ser1423=)
c.4338G= (p.Ser1446=)
c.4557G= (p.Ser1519=)
c.4308G= (p.Ser1436=)
c.4020G= (p.Ser1340=)
c.2586G= (p.Ser862=)
c.1749G= (p.Ser583=)
c.1380G= (p.Ser460=)
n.2891G=
n.348G=
c.4428G= (p.Ser1476=)
n.2425G=
c.1796G=
c.1710G=
n.1094G=
c.1770G= (p.Ser590=)
c.1929G= (p.Ser643=)
c.4059G= (p.Ser1353=)
c.4179G= (p.Ser1393=)
c.3258G= (p.Ser1086=)
c.3078G= (p.Ser1026=)
c.2838G= (p.Ser946=)
c.2457G= (p.Ser819=)
c.1320G= (p.Ser440=)
c.4389G= (p.Ser1463=)
c.4290G= (p.Ser1430=)
c.4260G= (p.Ser1420=)
c.4230G= (p.Ser1410=)
c.4101G= (p.Ser1367=)
c.4080G= (p.Ser1360=)
n.4427-1849G=
6g.157198856G>TCA452783943ARID1Bc.4269G>T (p.Ser1423=)
c.4338G>T (p.Ser1446=)
c.4557G>T (p.Ser1519=)
c.4308G>T (p.Ser1436=)
c.4020G>T (p.Ser1340=)
c.2586G>T (p.Ser862=)
c.1749G>T (p.Ser583=)
c.1380G>T (p.Ser460=)
n.2891G>T
n.348G>T
c.4428G>T (p.Ser1476=)
n.2425G>T
c.1796G>T
c.1710G>T
n.1094G>T
c.1770G>T (p.Ser590=)
c.1929G>T (p.Ser643=)
c.4059G>T (p.Ser1353=)
c.4179G>T (p.Ser1393=)
c.3258G>T (p.Ser1086=)
c.3078G>T (p.Ser1026=)
c.2838G>T (p.Ser946=)
c.2457G>T (p.Ser819=)
c.1320G>T (p.Ser440=)
c.4389G>T (p.Ser1463=)
c.4290G>T (p.Ser1430=)
c.4260G>T (p.Ser1420=)
c.4230G>T (p.Ser1410=)
c.4101G>T (p.Ser1367=)
c.4080G>T (p.Ser1360=)
n.4427-1849G>T
6g.157198857G>ACA366239738ARID1Bc.4270G>A (p.Gly1424Arg)
c.4339G>A (p.Gly1447Arg)
c.4558G>A (p.Gly1520Arg)
c.4309G>A (p.Gly1437Arg)
c.4021G>A (p.Gly1341Arg)
c.2587G>A (p.Gly863Arg)
c.1750G>A (p.Gly584Arg)
c.1381G>A (p.Gly461Arg)
n.2892G>A
n.349G>A
c.4429G>A (p.Gly1477Arg)
n.2426G>A
c.1797G>A
c.1711G>A
n.1095G>A
c.1771G>A (p.Gly591Arg)
c.1930G>A (p.Gly644Arg)
c.4060G>A (p.Gly1354Arg)
c.4180G>A (p.Gly1394Arg)
c.3259G>A (p.Gly1087Arg)
c.3079G>A (p.Gly1027Arg)
c.2839G>A (p.Gly947Arg)
c.2458G>A (p.Gly820Arg)
c.1321G>A (p.Gly441Arg)
c.4390G>A (p.Gly1464Arg)
c.4291G>A (p.Gly1431Arg)
c.4261G>A (p.Gly1421Arg)
c.4231G>A (p.Gly1411Arg)
c.4102G>A (p.Gly1368Arg)
c.4081G>A (p.Gly1361Arg)
n.4427-1848G>A
dbSNP gnomAD v4
6g.157198857G>CCA366239739ARID1Bc.4270G>C (p.Gly1424Arg)
c.4339G>C (p.Gly1447Arg)
c.4558G>C (p.Gly1520Arg)
c.4309G>C (p.Gly1437Arg)
c.4021G>C (p.Gly1341Arg)
c.2587G>C (p.Gly863Arg)
c.1750G>C (p.Gly584Arg)
c.1381G>C (p.Gly461Arg)
n.2892G>C
n.349G>C
c.4429G>C (p.Gly1477Arg)
n.2426G>C
c.1797G>C
c.1711G>C
n.1095G>C
c.1771G>C (p.Gly591Arg)
c.1930G>C (p.Gly644Arg)
c.4060G>C (p.Gly1354Arg)
c.4180G>C (p.Gly1394Arg)
c.3259G>C (p.Gly1087Arg)
c.3079G>C (p.Gly1027Arg)
c.2839G>C (p.Gly947Arg)
c.2458G>C (p.Gly820Arg)
c.1321G>C (p.Gly441Arg)
c.4390G>C (p.Gly1464Arg)
c.4291G>C (p.Gly1431Arg)
c.4261G>C (p.Gly1421Arg)
c.4231G>C (p.Gly1411Arg)
c.4102G>C (p.Gly1368Arg)
c.4081G>C (p.Gly1361Arg)
n.4427-1848G>C
dbSNP
6g.157198857G=CA1675542234ARID1Bc.4270G= (p.Gly1424=)
c.4339G= (p.Gly1447=)
c.4558G= (p.Gly1520=)
c.4309G= (p.Gly1437=)
c.4021G= (p.Gly1341=)
c.2587G= (p.Gly863=)
c.1750G= (p.Gly584=)
c.1381G= (p.Gly461=)
n.2892G=
n.349G=
c.4429G= (p.Gly1477=)
n.2426G=
c.1797G=
c.1711G=
n.1095G=
c.1771G= (p.Gly591=)
c.1930G= (p.Gly644=)
c.4060G= (p.Gly1354=)
c.4180G= (p.Gly1394=)
c.3259G= (p.Gly1087=)
c.3079G= (p.Gly1027=)
c.2839G= (p.Gly947=)
c.2458G= (p.Gly820=)
c.1321G= (p.Gly441=)
c.4390G= (p.Gly1464=)
c.4291G= (p.Gly1431=)
c.4261G= (p.Gly1421=)
c.4231G= (p.Gly1411=)
c.4102G= (p.Gly1368=)
c.4081G= (p.Gly1361=)
n.4427-1848G=
6g.157198857G>TCA366239741ARID1Bc.4270G>T (p.Gly1424Ter)
c.4339G>T (p.Gly1447Ter)
c.4558G>T (p.Gly1520Ter)
c.4309G>T (p.Gly1437Ter)
c.4021G>T (p.Gly1341Ter)
c.2587G>T (p.Gly863Ter)
c.1750G>T (p.Gly584Ter)
c.1381G>T (p.Gly461Ter)
n.2892G>T
n.349G>T
c.4429G>T (p.Gly1477Ter)
n.2426G>T
c.1797G>T
c.1711G>T
n.1095G>T
c.1771G>T (p.Gly591Ter)
c.1930G>T (p.Gly644Ter)
c.4060G>T (p.Gly1354Ter)
c.4180G>T (p.Gly1394Ter)
c.3259G>T (p.Gly1087Ter)
c.3079G>T (p.Gly1027Ter)
c.2839G>T (p.Gly947Ter)
c.2458G>T (p.Gly820Ter)
c.1321G>T (p.Gly441Ter)
c.4390G>T (p.Gly1464Ter)
c.4291G>T (p.Gly1431Ter)
c.4261G>T (p.Gly1421Ter)
c.4231G>T (p.Gly1411Ter)
c.4102G>T (p.Gly1368Ter)
c.4081G>T (p.Gly1361Ter)
n.4427-1848G>T
dbSNP
6g.157198858G>ACA366239744ARID1Bc.4271G>A (p.Gly1424Glu)
c.4340G>A (p.Gly1447Glu)
c.4559G>A (p.Gly1520Glu)
c.4310G>A (p.Gly1437Glu)
c.4022G>A (p.Gly1341Glu)
c.2588G>A (p.Gly863Glu)
c.1751G>A (p.Gly584Glu)
c.1382G>A (p.Gly461Glu)
n.2893G>A
n.350G>A
c.4430G>A (p.Gly1477Glu)
n.2427G>A
c.1798G>A
c.1712G>A
n.1096G>A
c.1772G>A (p.Gly591Glu)
c.1931G>A (p.Gly644Glu)
c.4061G>A (p.Gly1354Glu)
c.4181G>A (p.Gly1394Glu)
c.3260G>A (p.Gly1087Glu)
c.3080G>A (p.Gly1027Glu)
c.2840G>A (p.Gly947Glu)
c.2459G>A (p.Gly820Glu)
c.1322G>A (p.Gly441Glu)
c.4391G>A (p.Gly1464Glu)
c.4292G>A (p.Gly1431Glu)
c.4262G>A (p.Gly1421Glu)
c.4232G>A (p.Gly1411Glu)
c.4103G>A (p.Gly1368Glu)
c.4082G>A (p.Gly1361Glu)
n.4427-1847G>A
dbSNP
6g.157198858G>CCA366239746ARID1Bc.4271G>C (p.Gly1424Ala)
c.4340G>C (p.Gly1447Ala)
c.4559G>C (p.Gly1520Ala)
c.4310G>C (p.Gly1437Ala)
c.4022G>C (p.Gly1341Ala)
c.2588G>C (p.Gly863Ala)
c.1751G>C (p.Gly584Ala)
c.1382G>C (p.Gly461Ala)
n.2893G>C
n.350G>C
c.4430G>C (p.Gly1477Ala)
n.2427G>C
c.1798G>C
c.1712G>C
n.1096G>C
c.1772G>C (p.Gly591Ala)
c.1931G>C (p.Gly644Ala)
c.4061G>C (p.Gly1354Ala)
c.4181G>C (p.Gly1394Ala)
c.3260G>C (p.Gly1087Ala)
c.3080G>C (p.Gly1027Ala)
c.2840G>C (p.Gly947Ala)
c.2459G>C (p.Gly820Ala)
c.1322G>C (p.Gly441Ala)
c.4391G>C (p.Gly1464Ala)
c.4292G>C (p.Gly1431Ala)
c.4262G>C (p.Gly1421Ala)
c.4232G>C (p.Gly1411Ala)
c.4103G>C (p.Gly1368Ala)
c.4082G>C (p.Gly1361Ala)
n.4427-1847G>C
dbSNP
6g.157198858G>TCA366239747ARID1Bc.4271G>T (p.Gly1424Val)
c.4340G>T (p.Gly1447Val)
c.4559G>T (p.Gly1520Val)
c.4310G>T (p.Gly1437Val)
c.4022G>T (p.Gly1341Val)
c.2588G>T (p.Gly863Val)
c.1751G>T (p.Gly584Val)
c.1382G>T (p.Gly461Val)
n.2893G>T
n.350G>T
c.4430G>T (p.Gly1477Val)
n.2427G>T
c.1798G>T
c.1712G>T
n.1096G>T
c.1772G>T (p.Gly591Val)
c.1931G>T (p.Gly644Val)
c.4061G>T (p.Gly1354Val)
c.4181G>T (p.Gly1394Val)
c.3260G>T (p.Gly1087Val)
c.3080G>T (p.Gly1027Val)
c.2840G>T (p.Gly947Val)
c.2459G>T (p.Gly820Val)
c.1322G>T (p.Gly441Val)
c.4391G>T (p.Gly1464Val)
c.4292G>T (p.Gly1431Val)
c.4262G>T (p.Gly1421Val)
c.4232G>T (p.Gly1411Val)
c.4103G>T (p.Gly1368Val)
c.4082G>T (p.Gly1361Val)
n.4427-1847G>T
gnomAD v4
6g.157198859A>CCA452783944ARID1Bc.4272A>C (p.Gly1424=)
c.4341A>C (p.Gly1447=)
c.4560A>C (p.Gly1520=)
c.4311A>C (p.Gly1437=)
c.4023A>C (p.Gly1341=)
c.2589A>C (p.Gly863=)
c.1752A>C (p.Gly584=)
c.1383A>C (p.Gly461=)
n.2894A>C
n.351A>C
c.4431A>C (p.Gly1477=)
n.2428A>C
c.1799A>C
c.1713A>C
n.1097A>C
c.1773A>C (p.Gly591=)
c.1932A>C (p.Gly644=)
c.4062A>C (p.Gly1354=)
c.4182A>C (p.Gly1394=)
c.3261A>C (p.Gly1087=)
c.3081A>C (p.Gly1027=)
c.2841A>C (p.Gly947=)
c.2460A>C (p.Gly820=)
c.1323A>C (p.Gly441=)
c.4392A>C (p.Gly1464=)
c.4293A>C (p.Gly1431=)
c.4263A>C (p.Gly1421=)
c.4233A>C (p.Gly1411=)
c.4104A>C (p.Gly1368=)
c.4083A>C (p.Gly1361=)
n.4427-1846A>C
dbSNP
6g.157198859A>GCA452783945ARID1Bc.4272A>G (p.Gly1424=)
c.4341A>G (p.Gly1447=)
c.4560A>G (p.Gly1520=)
c.4311A>G (p.Gly1437=)
c.4023A>G (p.Gly1341=)
c.2589A>G (p.Gly863=)
c.1752A>G (p.Gly584=)
c.1383A>G (p.Gly461=)
n.2894A>G
n.351A>G
c.4431A>G (p.Gly1477=)
n.2428A>G
c.1799A>G
c.1713A>G
n.1097A>G
c.1773A>G (p.Gly591=)
c.1932A>G (p.Gly644=)
c.4062A>G (p.Gly1354=)
c.4182A>G (p.Gly1394=)
c.3261A>G (p.Gly1087=)
c.3081A>G (p.Gly1027=)
c.2841A>G (p.Gly947=)
c.2460A>G (p.Gly820=)
c.1323A>G (p.Gly441=)
c.4392A>G (p.Gly1464=)
c.4293A>G (p.Gly1431=)
c.4263A>G (p.Gly1421=)
c.4233A>G (p.Gly1411=)
c.4104A>G (p.Gly1368=)
c.4083A>G (p.Gly1361=)
n.4427-1846A>G
dbSNP
6g.157198859A>TCA452783946ARID1Bc.4272A>T (p.Gly1424=)
c.4341A>T (p.Gly1447=)
c.4560A>T (p.Gly1520=)
c.4311A>T (p.Gly1437=)
c.4023A>T (p.Gly1341=)
c.2589A>T (p.Gly863=)
c.1752A>T (p.Gly584=)
c.1383A>T (p.Gly461=)
n.2894A>T
n.351A>T
c.4431A>T (p.Gly1477=)
n.2428A>T
c.1799A>T
c.1713A>T
n.1097A>T
c.1773A>T (p.Gly591=)
c.1932A>T (p.Gly644=)
c.4062A>T (p.Gly1354=)
c.4182A>T (p.Gly1394=)
c.3261A>T (p.Gly1087=)
c.3081A>T (p.Gly1027=)
c.2841A>T (p.Gly947=)
c.2460A>T (p.Gly820=)
c.1323A>T (p.Gly441=)
c.4392A>T (p.Gly1464=)
c.4293A>T (p.Gly1431=)
c.4263A>T (p.Gly1421=)
c.4233A>T (p.Gly1411=)
c.4104A>T (p.Gly1368=)
c.4083A>T (p.Gly1361=)
n.4427-1846A>T
dbSNP
6g.157198860_157198861delCA2695207261ARID1Bc.4273_4274del (p.Gln1425AlafsTer?)
c.4342_4343del (p.Gln1448AlafsTer?)
c.4561_4562del (p.Gln1521AlafsTer?)
c.4312_4313del (p.Gln1438AlafsTer?)
c.4024_4025del (p.Gln1342AlafsTer?)
c.2590_2591del (p.Gln864AlafsTer?)
c.1753_1754del (p.Gln585AlafsTer?)
c.1384_1385del (p.Gln462AlafsTer?)
n.2895_2896del
n.352_353del
c.4432_4433del (p.Gln1478AlafsTer?)
n.2429_2430del
c.1800_1801del
c.1714_1715del
n.1098_1099del
c.1774_1775del (p.Gln592AlafsTer?)
c.1933_1934del (p.Gln645AlafsTer?)
c.4063_4064del (p.Gln1355AlafsTer?)
c.4183_4184del (p.Gln1395AlafsTer?)
c.3262_3263del (p.Gln1088AlafsTer?)
c.3082_3083del (p.Gln1028AlafsTer?)
c.2842_2843del (p.Gln948AlafsTer?)
c.2461_2462del (p.Gln821AlafsTer?)
c.1324_1325del (p.Gln442AlafsTer?)
c.4393_4394del (p.Gln1465AlafsTer?)
c.4294_4295del (p.Gln1432AlafsTer?)
c.4264_4265del (p.Gln1422AlafsTer?)
c.4234_4235del (p.Gln1412AlafsTer?)
c.4105_4106del (p.Gln1369AlafsTer?)
c.4084_4085del (p.Gln1362AlafsTer?)
n.4427-1845_4427-1844del
6g.157198860C>ACA366239748ARID1Bc.4273C>A (p.Gln1425Lys)
c.4342C>A (p.Gln1448Lys)
c.4561C>A (p.Gln1521Lys)
c.4312C>A (p.Gln1438Lys)
c.4024C>A (p.Gln1342Lys)
c.2590C>A (p.Gln864Lys)
c.1753C>A (p.Gln585Lys)
c.1384C>A (p.Gln462Lys)
n.2895C>A
n.352C>A
c.4432C>A (p.Gln1478Lys)
n.2429C>A
c.1800C>A
c.1714C>A
n.1098C>A
c.1774C>A (p.Gln592Lys)
c.1933C>A (p.Gln645Lys)
c.4063C>A (p.Gln1355Lys)
c.4183C>A (p.Gln1395Lys)
c.3262C>A (p.Gln1088Lys)
c.3082C>A (p.Gln1028Lys)
c.2842C>A (p.Gln948Lys)
c.2461C>A (p.Gln821Lys)
c.1324C>A (p.Gln442Lys)
c.4393C>A (p.Gln1465Lys)
c.4294C>A (p.Gln1432Lys)
c.4264C>A (p.Gln1422Lys)
c.4234C>A (p.Gln1412Lys)
c.4105C>A (p.Gln1369Lys)
c.4084C>A (p.Gln1362Lys)
n.4427-1845C>A
dbSNP
6g.157198860C>GCA366239750ARID1Bc.4273C>G (p.Gln1425Glu)
c.4342C>G (p.Gln1448Glu)
c.4561C>G (p.Gln1521Glu)
c.4312C>G (p.Gln1438Glu)
c.4024C>G (p.Gln1342Glu)
c.2590C>G (p.Gln864Glu)
c.1753C>G (p.Gln585Glu)
c.1384C>G (p.Gln462Glu)
n.2895C>G
n.352C>G
c.4432C>G (p.Gln1478Glu)
n.2429C>G
c.1800C>G
c.1714C>G
n.1098C>G
c.1774C>G (p.Gln592Glu)
c.1933C>G (p.Gln645Glu)
c.4063C>G (p.Gln1355Glu)
c.4183C>G (p.Gln1395Glu)
c.3262C>G (p.Gln1088Glu)
c.3082C>G (p.Gln1028Glu)
c.2842C>G (p.Gln948Glu)
c.2461C>G (p.Gln821Glu)
c.1324C>G (p.Gln442Glu)
c.4393C>G (p.Gln1465Glu)
c.4294C>G (p.Gln1432Glu)
c.4264C>G (p.Gln1422Glu)
c.4234C>G (p.Gln1412Glu)
c.4105C>G (p.Gln1369Glu)
c.4084C>G (p.Gln1362Glu)
n.4427-1845C>G
6g.157198860C>TCA366239751ARID1Bc.4273C>T (p.Gln1425Ter)
c.4342C>T (p.Gln1448Ter)
c.4561C>T (p.Gln1521Ter)
c.4312C>T (p.Gln1438Ter)
c.4024C>T (p.Gln1342Ter)
c.2590C>T (p.Gln864Ter)
c.1753C>T (p.Gln585Ter)
c.1384C>T (p.Gln462Ter)
n.2895C>T
n.352C>T
c.4432C>T (p.Gln1478Ter)
n.2429C>T
c.1800C>T
c.1714C>T
n.1098C>T
c.1774C>T (p.Gln592Ter)
c.1933C>T (p.Gln645Ter)
c.4063C>T (p.Gln1355Ter)
c.4183C>T (p.Gln1395Ter)
c.3262C>T (p.Gln1088Ter)
c.3082C>T (p.Gln1028Ter)
c.2842C>T (p.Gln948Ter)
c.2461C>T (p.Gln821Ter)
c.1324C>T (p.Gln442Ter)
c.4393C>T (p.Gln1465Ter)
c.4294C>T (p.Gln1432Ter)
c.4264C>T (p.Gln1422Ter)
c.4234C>T (p.Gln1412Ter)
c.4105C>T (p.Gln1369Ter)
c.4084C>T (p.Gln1362Ter)
n.4427-1845C>T
ClinVar dbSNP
6g.157198861A=CA1675542235ARID1Bc.4274A= (p.Gln1425=)
c.4343A= (p.Gln1448=)
c.4562A= (p.Gln1521=)
c.4313A= (p.Gln1438=)
c.4025A= (p.Gln1342=)
c.2591A= (p.Gln864=)
c.1754A= (p.Gln585=)
c.1385A= (p.Gln462=)
n.2896A=
n.353A=
c.4433A= (p.Gln1478=)
n.2430A=
c.1801A=
c.1715A=
n.1099A=
c.1775A= (p.Gln592=)
c.1934A= (p.Gln645=)
c.4064A= (p.Gln1355=)
c.4184A= (p.Gln1395=)
c.3263A= (p.Gln1088=)
c.3083A= (p.Gln1028=)
c.2843A= (p.Gln948=)
c.2462A= (p.Gln821=)
c.1325A= (p.Gln442=)
c.4394A= (p.Gln1465=)
c.4295A= (p.Gln1432=)
c.4265A= (p.Gln1422=)
c.4235A= (p.Gln1412=)
c.4106A= (p.Gln1369=)
c.4085A= (p.Gln1362=)
n.4427-1844A=
6g.157198861A>CCA366239755ARID1Bc.4274A>C (p.Gln1425Pro)
c.4343A>C (p.Gln1448Pro)
c.4562A>C (p.Gln1521Pro)
c.4313A>C (p.Gln1438Pro)
c.4025A>C (p.Gln1342Pro)
c.2591A>C (p.Gln864Pro)
c.1754A>C (p.Gln585Pro)
c.1385A>C (p.Gln462Pro)
n.2896A>C
n.353A>C
c.4433A>C (p.Gln1478Pro)
n.2430A>C
c.1801A>C
c.1715A>C
n.1099A>C
c.1775A>C (p.Gln592Pro)
c.1934A>C (p.Gln645Pro)
c.4064A>C (p.Gln1355Pro)
c.4184A>C (p.Gln1395Pro)
c.3263A>C (p.Gln1088Pro)
c.3083A>C (p.Gln1028Pro)
c.2843A>C (p.Gln948Pro)
c.2462A>C (p.Gln821Pro)
c.1325A>C (p.Gln442Pro)
c.4394A>C (p.Gln1465Pro)
c.4295A>C (p.Gln1432Pro)
c.4265A>C (p.Gln1422Pro)
c.4235A>C (p.Gln1412Pro)
c.4106A>C (p.Gln1369Pro)
c.4085A>C (p.Gln1362Pro)
n.4427-1844A>C
6g.157198861A>GCA150368555ARID1Bc.4274A>G (p.Gln1425Arg)
c.4343A>G (p.Gln1448Arg)
c.4562A>G (p.Gln1521Arg)
c.4313A>G (p.Gln1438Arg)
c.4025A>G (p.Gln1342Arg)
c.2591A>G (p.Gln864Arg)
c.1754A>G (p.Gln585Arg)
c.1385A>G (p.Gln462Arg)
n.2896A>G
n.353A>G
c.4433A>G (p.Gln1478Arg)
n.2430A>G
c.1801A>G
c.1715A>G
n.1099A>G
c.1775A>G (p.Gln592Arg)
c.1934A>G (p.Gln645Arg)
c.4064A>G (p.Gln1355Arg)
c.4184A>G (p.Gln1395Arg)
c.3263A>G (p.Gln1088Arg)
c.3083A>G (p.Gln1028Arg)
c.2843A>G (p.Gln948Arg)
c.2462A>G (p.Gln821Arg)
c.1325A>G (p.Gln442Arg)
c.4394A>G (p.Gln1465Arg)
c.4295A>G (p.Gln1432Arg)
c.4265A>G (p.Gln1422Arg)
c.4235A>G (p.Gln1412Arg)
c.4106A>G (p.Gln1369Arg)
c.4085A>G (p.Gln1362Arg)
n.4427-1844A>G
dbSNP gnomAD v4
6g.157198861A>TCA366239752ARID1Bc.4274A>T (p.Gln1425Leu)
c.4343A>T (p.Gln1448Leu)
c.4562A>T (p.Gln1521Leu)
c.4313A>T (p.Gln1438Leu)
c.4025A>T (p.Gln1342Leu)
c.2591A>T (p.Gln864Leu)
c.1754A>T (p.Gln585Leu)
c.1385A>T (p.Gln462Leu)
n.2896A>T
n.353A>T
c.4433A>T (p.Gln1478Leu)
n.2430A>T
c.1801A>T
c.1715A>T
n.1099A>T
c.1775A>T (p.Gln592Leu)
c.1934A>T (p.Gln645Leu)
c.4064A>T (p.Gln1355Leu)
c.4184A>T (p.Gln1395Leu)
c.3263A>T (p.Gln1088Leu)
c.3083A>T (p.Gln1028Leu)
c.2843A>T (p.Gln948Leu)
c.2462A>T (p.Gln821Leu)
c.1325A>T (p.Gln442Leu)
c.4394A>T (p.Gln1465Leu)
c.4295A>T (p.Gln1432Leu)
c.4265A>T (p.Gln1422Leu)
c.4235A>T (p.Gln1412Leu)
c.4106A>T (p.Gln1369Leu)
c.4085A>T (p.Gln1362Leu)
n.4427-1844A>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.157198862G>ACA452783950ARID1Bc.4275G>A (p.Gln1425=)
c.4344G>A (p.Gln1448=)
c.4563G>A (p.Gln1521=)
c.4314G>A (p.Gln1438=)
c.4026G>A (p.Gln1342=)
c.2592G>A (p.Gln864=)
c.1755G>A (p.Gln585=)
c.1386G>A (p.Gln462=)
n.2897G>A
n.354G>A
c.4434G>A (p.Gln1478=)
n.2431G>A
c.1802G>A
c.1716G>A
n.1100G>A
c.1776G>A (p.Gln592=)
c.1935G>A (p.Gln645=)
c.4065G>A (p.Gln1355=)
c.4185G>A (p.Gln1395=)
c.3264G>A (p.Gln1088=)
c.3084G>A (p.Gln1028=)
c.2844G>A (p.Gln948=)
c.2463G>A (p.Gln821=)
c.1326G>A (p.Gln442=)
c.4395G>A (p.Gln1465=)
c.4296G>A (p.Gln1432=)
c.4266G>A (p.Gln1422=)
c.4236G>A (p.Gln1412=)
c.4107G>A (p.Gln1369=)
c.4086G>A (p.Gln1362=)
n.4427-1843G>A
dbSNP
6g.157198862G>CCA366239756ARID1Bc.4275G>C (p.Gln1425His)
c.4344G>C (p.Gln1448His)
c.4563G>C (p.Gln1521His)
c.4314G>C (p.Gln1438His)
c.4026G>C (p.Gln1342His)
c.2592G>C (p.Gln864His)
c.1755G>C (p.Gln585His)
c.1386G>C (p.Gln462His)
n.2897G>C
n.354G>C
c.4434G>C (p.Gln1478His)
n.2431G>C
c.1802G>C
c.1716G>C
n.1100G>C
c.1776G>C (p.Gln592His)
c.1935G>C (p.Gln645His)
c.4065G>C (p.Gln1355His)
c.4185G>C (p.Gln1395His)
c.3264G>C (p.Gln1088His)
c.3084G>C (p.Gln1028His)
c.2844G>C (p.Gln948His)
c.2463G>C (p.Gln821His)
c.1326G>C (p.Gln442His)
c.4395G>C (p.Gln1465His)
c.4296G>C (p.Gln1432His)
c.4266G>C (p.Gln1422His)
c.4236G>C (p.Gln1412His)
c.4107G>C (p.Gln1369His)
c.4086G>C (p.Gln1362His)
n.4427-1843G>C
dbSNP
6g.157198862G>TCA366239757ARID1Bc.4275G>T (p.Gln1425His)
c.4344G>T (p.Gln1448His)
c.4563G>T (p.Gln1521His)
c.4314G>T (p.Gln1438His)
c.4026G>T (p.Gln1342His)
c.2592G>T (p.Gln864His)
c.1755G>T (p.Gln585His)
c.1386G>T (p.Gln462His)
n.2897G>T
n.354G>T
c.4434G>T (p.Gln1478His)
n.2431G>T
c.1802G>T
c.1716G>T
n.1100G>T
c.1776G>T (p.Gln592His)
c.1935G>T (p.Gln645His)
c.4065G>T (p.Gln1355His)
c.4185G>T (p.Gln1395His)
c.3264G>T (p.Gln1088His)
c.3084G>T (p.Gln1028His)
c.2844G>T (p.Gln948His)
c.2463G>T (p.Gln821His)
c.1326G>T (p.Gln442His)
c.4395G>T (p.Gln1465His)
c.4296G>T (p.Gln1432His)
c.4266G>T (p.Gln1422His)
c.4236G>T (p.Gln1412His)
c.4107G>T (p.Gln1369His)
c.4086G>T (p.Gln1362His)
n.4427-1843G>T
dbSNP gnomAD v4
6g.157198863C>ACA366239759ARID1Bc.4276C>A (p.Pro1426Thr)
c.4345C>A (p.Pro1449Thr)
c.4564C>A (p.Pro1522Thr)
c.4315C>A (p.Pro1439Thr)
c.4027C>A (p.Pro1343Thr)
c.2593C>A (p.Pro865Thr)
c.1756C>A (p.Pro586Thr)
c.1387C>A (p.Pro463Thr)
n.2898C>A
n.355C>A
c.4435C>A (p.Pro1479Thr)
n.2432C>A
c.1803C>A
c.1717C>A
n.1101C>A
c.1777C>A (p.Pro593Thr)
c.1936C>A (p.Pro646Thr)
c.4066C>A (p.Pro1356Thr)
c.4186C>A (p.Pro1396Thr)
c.3265C>A (p.Pro1089Thr)
c.3085C>A (p.Pro1029Thr)
c.2845C>A (p.Pro949Thr)
c.2464C>A (p.Pro822Thr)
c.1327C>A (p.Pro443Thr)
c.4396C>A (p.Pro1466Thr)
c.4297C>A (p.Pro1433Thr)
c.4267C>A (p.Pro1423Thr)
c.4237C>A (p.Pro1413Thr)
c.4108C>A (p.Pro1370Thr)
c.4087C>A (p.Pro1363Thr)
n.4427-1842C>A
dbSNP
6g.157198863C>GCA366239760ARID1Bc.4276C>G (p.Pro1426Ala)
c.4345C>G (p.Pro1449Ala)
c.4564C>G (p.Pro1522Ala)
c.4315C>G (p.Pro1439Ala)
c.4027C>G (p.Pro1343Ala)
c.2593C>G (p.Pro865Ala)
c.1756C>G (p.Pro586Ala)
c.1387C>G (p.Pro463Ala)
n.2898C>G
n.355C>G
c.4435C>G (p.Pro1479Ala)
n.2432C>G
c.1803C>G
c.1717C>G
n.1101C>G
c.1777C>G (p.Pro593Ala)
c.1936C>G (p.Pro646Ala)
c.4066C>G (p.Pro1356Ala)
c.4186C>G (p.Pro1396Ala)
c.3265C>G (p.Pro1089Ala)
c.3085C>G (p.Pro1029Ala)
c.2845C>G (p.Pro949Ala)
c.2464C>G (p.Pro822Ala)
c.1327C>G (p.Pro443Ala)
c.4396C>G (p.Pro1466Ala)
c.4297C>G (p.Pro1433Ala)
c.4267C>G (p.Pro1423Ala)
c.4237C>G (p.Pro1413Ala)
c.4108C>G (p.Pro1370Ala)
c.4087C>G (p.Pro1363Ala)
n.4427-1842C>G
dbSNP
6g.157198863C>TCA366239761ARID1Bc.4276C>T (p.Pro1426Ser)
c.4345C>T (p.Pro1449Ser)
c.4564C>T (p.Pro1522Ser)
c.4315C>T (p.Pro1439Ser)
c.4027C>T (p.Pro1343Ser)
c.2593C>T (p.Pro865Ser)
c.1756C>T (p.Pro586Ser)
c.1387C>T (p.Pro463Ser)
n.2898C>T
n.355C>T
c.4435C>T (p.Pro1479Ser)
n.2432C>T
c.1803C>T
c.1717C>T
n.1101C>T
c.1777C>T (p.Pro593Ser)
c.1936C>T (p.Pro646Ser)
c.4066C>T (p.Pro1356Ser)
c.4186C>T (p.Pro1396Ser)
c.3265C>T (p.Pro1089Ser)
c.3085C>T (p.Pro1029Ser)
c.2845C>T (p.Pro949Ser)
c.2464C>T (p.Pro822Ser)
c.1327C>T (p.Pro443Ser)
c.4396C>T (p.Pro1466Ser)
c.4297C>T (p.Pro1433Ser)
c.4267C>T (p.Pro1423Ser)
c.4237C>T (p.Pro1413Ser)
c.4108C>T (p.Pro1370Ser)
c.4087C>T (p.Pro1363Ser)
n.4427-1842C>T
dbSNP gnomAD v4
6g.157198864C>ACA366239763ARID1Bc.4277C>A (p.Pro1426Gln)
c.4346C>A (p.Pro1449Gln)
c.4565C>A (p.Pro1522Gln)
c.4316C>A (p.Pro1439Gln)
c.4028C>A (p.Pro1343Gln)
c.2594C>A (p.Pro865Gln)
c.1757C>A (p.Pro586Gln)
c.1388C>A (p.Pro463Gln)
n.2899C>A
n.356C>A
c.4436C>A (p.Pro1479Gln)
n.2433C>A
c.1804C>A
c.1718C>A
n.1102C>A
c.1778C>A (p.Pro593Gln)
c.1937C>A (p.Pro646Gln)
c.4067C>A (p.Pro1356Gln)
c.4187C>A (p.Pro1396Gln)
c.3266C>A (p.Pro1089Gln)
c.3086C>A (p.Pro1029Gln)
c.2846C>A (p.Pro949Gln)
c.2465C>A (p.Pro822Gln)
c.1328C>A (p.Pro443Gln)
c.4397C>A (p.Pro1466Gln)
c.4298C>A (p.Pro1433Gln)
c.4268C>A (p.Pro1423Gln)
c.4238C>A (p.Pro1413Gln)
c.4109C>A (p.Pro1370Gln)
c.4088C>A (p.Pro1363Gln)
n.4427-1841C>A
dbSNP gnomAD v4
6g.157198864C=CA1675542236ARID1Bc.4277C= (p.Pro1426=)
c.4346C= (p.Pro1449=)
c.4565C= (p.Pro1522=)
c.4316C= (p.Pro1439=)
c.4028C= (p.Pro1343=)
c.2594C= (p.Pro865=)
c.1757C= (p.Pro586=)
c.1388C= (p.Pro463=)
n.2899C=
n.356C=
c.4436C= (p.Pro1479=)
n.2433C=
c.1804C=
c.1718C=
n.1102C=
c.1778C= (p.Pro593=)
c.1937C= (p.Pro646=)
c.4067C= (p.Pro1356=)
c.4187C= (p.Pro1396=)
c.3266C= (p.Pro1089=)
c.3086C= (p.Pro1029=)
c.2846C= (p.Pro949=)
c.2465C= (p.Pro822=)
c.1328C= (p.Pro443=)
c.4397C= (p.Pro1466=)
c.4298C= (p.Pro1433=)
c.4268C= (p.Pro1423=)
c.4238C= (p.Pro1413=)
c.4109C= (p.Pro1370=)
c.4088C= (p.Pro1363=)
n.4427-1841C=
6g.157198864C>GCA366239764ARID1Bc.4277C>G (p.Pro1426Arg)
c.4346C>G (p.Pro1449Arg)
c.4565C>G (p.Pro1522Arg)
c.4316C>G (p.Pro1439Arg)
c.4028C>G (p.Pro1343Arg)
c.2594C>G (p.Pro865Arg)
c.1757C>G (p.Pro586Arg)
c.1388C>G (p.Pro463Arg)
n.2899C>G
n.356C>G
c.4436C>G (p.Pro1479Arg)
n.2433C>G
c.1804C>G
c.1718C>G
n.1102C>G
c.1778C>G (p.Pro593Arg)
c.1937C>G (p.Pro646Arg)
c.4067C>G (p.Pro1356Arg)
c.4187C>G (p.Pro1396Arg)
c.3266C>G (p.Pro1089Arg)
c.3086C>G (p.Pro1029Arg)
c.2846C>G (p.Pro949Arg)
c.2465C>G (p.Pro822Arg)
c.1328C>G (p.Pro443Arg)
c.4397C>G (p.Pro1466Arg)
c.4298C>G (p.Pro1433Arg)
c.4268C>G (p.Pro1423Arg)
c.4238C>G (p.Pro1413Arg)
c.4109C>G (p.Pro1370Arg)
c.4088C>G (p.Pro1363Arg)
n.4427-1841C>G
dbSNP
6g.157198864C>TCA4067624ARID1Bc.4277C>T (p.Pro1426Leu)
c.4346C>T (p.Pro1449Leu)
c.4565C>T (p.Pro1522Leu)
c.4316C>T (p.Pro1439Leu)
c.4028C>T (p.Pro1343Leu)
c.2594C>T (p.Pro865Leu)
c.1757C>T (p.Pro586Leu)
c.1388C>T (p.Pro463Leu)
n.2899C>T
n.356C>T
c.4436C>T (p.Pro1479Leu)
n.2433C>T
c.1804C>T
c.1718C>T
n.1102C>T
c.1778C>T (p.Pro593Leu)
c.1937C>T (p.Pro646Leu)
c.4067C>T (p.Pro1356Leu)
c.4187C>T (p.Pro1396Leu)
c.3266C>T (p.Pro1089Leu)
c.3086C>T (p.Pro1029Leu)
c.2846C>T (p.Pro949Leu)
c.2465C>T (p.Pro822Leu)
c.1328C>T (p.Pro443Leu)
c.4397C>T (p.Pro1466Leu)
c.4298C>T (p.Pro1433Leu)
c.4268C>T (p.Pro1423Leu)
c.4238C>T (p.Pro1413Leu)
c.4109C>T (p.Pro1370Leu)
c.4088C>T (p.Pro1363Leu)
n.4427-1841C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157198865G>ACA452783953ARID1Bc.4278G>A (p.Pro1426=)
c.4347G>A (p.Pro1449=)
c.4566G>A (p.Pro1522=)
c.4317G>A (p.Pro1439=)
c.4029G>A (p.Pro1343=)
c.2595G>A (p.Pro865=)
c.1758G>A (p.Pro586=)
c.1389G>A (p.Pro463=)
n.2900G>A
n.357G>A
c.4437G>A (p.Pro1479=)
n.2434G>A
c.1805G>A
c.1719G>A
n.1103G>A
c.1779G>A (p.Pro593=)
c.1938G>A (p.Pro646=)
c.4068G>A (p.Pro1356=)
c.4188G>A (p.Pro1396=)
c.3267G>A (p.Pro1089=)
c.3087G>A (p.Pro1029=)
c.2847G>A (p.Pro949=)
c.2466G>A (p.Pro822=)
c.1329G>A (p.Pro443=)
c.4398G>A (p.Pro1466=)
c.4299G>A (p.Pro1433=)
c.4269G>A (p.Pro1423=)
c.4239G>A (p.Pro1413=)
c.4110G>A (p.Pro1370=)
c.4089G>A (p.Pro1363=)
n.4427-1840G>A
dbSNP gnomAD v2 gnomAD v4
6g.157198865G>CCA452783952ARID1Bc.4278G>C (p.Pro1426=)
c.4347G>C (p.Pro1449=)
c.4566G>C (p.Pro1522=)
c.4317G>C (p.Pro1439=)
c.4029G>C (p.Pro1343=)
c.2595G>C (p.Pro865=)
c.1758G>C (p.Pro586=)
c.1389G>C (p.Pro463=)
n.2900G>C
n.357G>C
c.4437G>C (p.Pro1479=)
n.2434G>C
c.1805G>C
c.1719G>C
n.1103G>C
c.1779G>C (p.Pro593=)
c.1938G>C (p.Pro646=)
c.4068G>C (p.Pro1356=)
c.4188G>C (p.Pro1396=)
c.3267G>C (p.Pro1089=)
c.3087G>C (p.Pro1029=)
c.2847G>C (p.Pro949=)
c.2466G>C (p.Pro822=)
c.1329G>C (p.Pro443=)
c.4398G>C (p.Pro1466=)
c.4299G>C (p.Pro1433=)
c.4269G>C (p.Pro1423=)
c.4239G>C (p.Pro1413=)
c.4110G>C (p.Pro1370=)
c.4089G>C (p.Pro1363=)
n.4427-1840G>C
dbSNP
6g.157198865G=CA1675542237ARID1Bc.4278G= (p.Pro1426=)
c.4347G= (p.Pro1449=)
c.4566G= (p.Pro1522=)
c.4317G= (p.Pro1439=)
c.4029G= (p.Pro1343=)
c.2595G= (p.Pro865=)
c.1758G= (p.Pro586=)
c.1389G= (p.Pro463=)
n.2900G=
n.357G=
c.4437G= (p.Pro1479=)
n.2434G=
c.1805G=
c.1719G=
n.1103G=
c.1779G= (p.Pro593=)
c.1938G= (p.Pro646=)
c.4068G= (p.Pro1356=)
c.4188G= (p.Pro1396=)
c.3267G= (p.Pro1089=)
c.3087G= (p.Pro1029=)
c.2847G= (p.Pro949=)
c.2466G= (p.Pro822=)
c.1329G= (p.Pro443=)
c.4398G= (p.Pro1466=)
c.4299G= (p.Pro1433=)
c.4269G= (p.Pro1423=)
c.4239G= (p.Pro1413=)
c.4110G= (p.Pro1370=)
c.4089G= (p.Pro1363=)
n.4427-1840G=
6g.157198865G>TCA452783951ARID1Bc.4278G>T (p.Pro1426=)
c.4347G>T (p.Pro1449=)
c.4566G>T (p.Pro1522=)
c.4317G>T (p.Pro1439=)
c.4029G>T (p.Pro1343=)
c.2595G>T (p.Pro865=)
c.1758G>T (p.Pro586=)
c.1389G>T (p.Pro463=)
n.2900G>T
n.357G>T
c.4437G>T (p.Pro1479=)
n.2434G>T
c.1805G>T
c.1719G>T
n.1103G>T
c.1779G>T (p.Pro593=)
c.1938G>T (p.Pro646=)
c.4068G>T (p.Pro1356=)
c.4188G>T (p.Pro1396=)
c.3267G>T (p.Pro1089=)
c.3087G>T (p.Pro1029=)
c.2847G>T (p.Pro949=)
c.2466G>T (p.Pro822=)
c.1329G>T (p.Pro443=)
c.4398G>T (p.Pro1466=)
c.4299G>T (p.Pro1433=)
c.4269G>T (p.Pro1423=)
c.4239G>T (p.Pro1413=)
c.4110G>T (p.Pro1370=)
c.4089G>T (p.Pro1363=)
n.4427-1840G>T
6g.157198866C>ACA366239766ARID1Bc.4279C>A (p.Pro1427Thr)
c.4348C>A (p.Pro1450Thr)
c.4567C>A (p.Pro1523Thr)
c.4318C>A (p.Pro1440Thr)
c.4030C>A (p.Pro1344Thr)
c.2596C>A (p.Pro866Thr)
c.1759C>A (p.Pro587Thr)
c.1390C>A (p.Pro464Thr)
n.2901C>A
n.358C>A
c.4438C>A (p.Pro1480Thr)
n.2435C>A
c.1806C>A
c.1720C>A
n.1104C>A
c.1780C>A (p.Pro594Thr)
c.1939C>A (p.Pro647Thr)
c.4069C>A (p.Pro1357Thr)
c.4189C>A (p.Pro1397Thr)
c.3268C>A (p.Pro1090Thr)
c.3088C>A (p.Pro1030Thr)
c.2848C>A (p.Pro950Thr)
c.2467C>A (p.Pro823Thr)
c.1330C>A (p.Pro444Thr)
c.4399C>A (p.Pro1467Thr)
c.4300C>A (p.Pro1434Thr)
c.4270C>A (p.Pro1424Thr)
c.4240C>A (p.Pro1414Thr)
c.4111C>A (p.Pro1371Thr)
c.4090C>A (p.Pro1364Thr)
n.4427-1839C>A
dbSNP gnomAD v4
6g.157198866C>GCA366239768ARID1Bc.4279C>G (p.Pro1427Ala)
c.4348C>G (p.Pro1450Ala)
c.4567C>G (p.Pro1523Ala)
c.4318C>G (p.Pro1440Ala)
c.4030C>G (p.Pro1344Ala)
c.2596C>G (p.Pro866Ala)
c.1759C>G (p.Pro587Ala)
c.1390C>G (p.Pro464Ala)
n.2901C>G
n.358C>G
c.4438C>G (p.Pro1480Ala)
n.2435C>G
c.1806C>G
c.1720C>G
n.1104C>G
c.1780C>G (p.Pro594Ala)
c.1939C>G (p.Pro647Ala)
c.4069C>G (p.Pro1357Ala)
c.4189C>G (p.Pro1397Ala)
c.3268C>G (p.Pro1090Ala)
c.3088C>G (p.Pro1030Ala)
c.2848C>G (p.Pro950Ala)
c.2467C>G (p.Pro823Ala)
c.1330C>G (p.Pro444Ala)
c.4399C>G (p.Pro1467Ala)
c.4300C>G (p.Pro1434Ala)
c.4270C>G (p.Pro1424Ala)
c.4240C>G (p.Pro1414Ala)
c.4111C>G (p.Pro1371Ala)
c.4090C>G (p.Pro1364Ala)
n.4427-1839C>G
dbSNP
6g.157198866C>TCA366239770ARID1Bc.4279C>T (p.Pro1427Ser)
c.4348C>T (p.Pro1450Ser)
c.4567C>T (p.Pro1523Ser)
c.4318C>T (p.Pro1440Ser)
c.4030C>T (p.Pro1344Ser)
c.2596C>T (p.Pro866Ser)
c.1759C>T (p.Pro587Ser)
c.1390C>T (p.Pro464Ser)
n.2901C>T
n.358C>T
c.4438C>T (p.Pro1480Ser)
n.2435C>T
c.1806C>T
c.1720C>T
n.1104C>T
c.1780C>T (p.Pro594Ser)
c.1939C>T (p.Pro647Ser)
c.4069C>T (p.Pro1357Ser)
c.4189C>T (p.Pro1397Ser)
c.3268C>T (p.Pro1090Ser)
c.3088C>T (p.Pro1030Ser)
c.2848C>T (p.Pro950Ser)
c.2467C>T (p.Pro823Ser)
c.1330C>T (p.Pro444Ser)
c.4399C>T (p.Pro1467Ser)
c.4300C>T (p.Pro1434Ser)
c.4270C>T (p.Pro1424Ser)
c.4240C>T (p.Pro1414Ser)
c.4111C>T (p.Pro1371Ser)
c.4090C>T (p.Pro1364Ser)
n.4427-1839C>T
dbSNP
6g.157198867C>ACA366239771ARID1Bc.4280C>A (p.Pro1427Gln)
c.4349C>A (p.Pro1450Gln)
c.4568C>A (p.Pro1523Gln)
c.4319C>A (p.Pro1440Gln)
c.4031C>A (p.Pro1344Gln)
c.2597C>A (p.Pro866Gln)
c.1760C>A (p.Pro587Gln)
c.1391C>A (p.Pro464Gln)
n.2902C>A
n.359C>A
c.4439C>A (p.Pro1480Gln)
n.2436C>A
c.1807C>A
c.1721C>A
n.1105C>A
c.1781C>A (p.Pro594Gln)
c.1940C>A (p.Pro647Gln)
c.4070C>A (p.Pro1357Gln)
c.4190C>A (p.Pro1397Gln)
c.3269C>A (p.Pro1090Gln)
c.3089C>A (p.Pro1030Gln)
c.2849C>A (p.Pro950Gln)
c.2468C>A (p.Pro823Gln)
c.1331C>A (p.Pro444Gln)
c.4400C>A (p.Pro1467Gln)
c.4301C>A (p.Pro1434Gln)
c.4271C>A (p.Pro1424Gln)
c.4241C>A (p.Pro1414Gln)
c.4112C>A (p.Pro1371Gln)
c.4091C>A (p.Pro1364Gln)
n.4427-1838C>A
dbSNP
6g.157198867C=CA1675542238ARID1Bc.4280C= (p.Pro1427=)
c.4349C= (p.Pro1450=)
c.4568C= (p.Pro1523=)
c.4319C= (p.Pro1440=)
c.4031C= (p.Pro1344=)
c.2597C= (p.Pro866=)
c.1760C= (p.Pro587=)
c.1391C= (p.Pro464=)
n.2902C=
n.359C=
c.4439C= (p.Pro1480=)
n.2436C=
c.1807C=
c.1721C=
n.1105C=
c.1781C= (p.Pro594=)
c.1940C= (p.Pro647=)
c.4070C= (p.Pro1357=)
c.4190C= (p.Pro1397=)
c.3269C= (p.Pro1090=)
c.3089C= (p.Pro1030=)
c.2849C= (p.Pro950=)
c.2468C= (p.Pro823=)
c.1331C= (p.Pro444=)
c.4400C= (p.Pro1467=)
c.4301C= (p.Pro1434=)
c.4271C= (p.Pro1424=)
c.4241C= (p.Pro1414=)
c.4112C= (p.Pro1371=)
c.4091C= (p.Pro1364=)
n.4427-1838C=
6g.157198867C>GCA366239772ARID1Bc.4280C>G (p.Pro1427Arg)
c.4349C>G (p.Pro1450Arg)
c.4568C>G (p.Pro1523Arg)
c.4319C>G (p.Pro1440Arg)
c.4031C>G (p.Pro1344Arg)
c.2597C>G (p.Pro866Arg)
c.1760C>G (p.Pro587Arg)
c.1391C>G (p.Pro464Arg)
n.2902C>G
n.359C>G
c.4439C>G (p.Pro1480Arg)
n.2436C>G
c.1807C>G
c.1721C>G
n.1105C>G
c.1781C>G (p.Pro594Arg)
c.1940C>G (p.Pro647Arg)
c.4070C>G (p.Pro1357Arg)
c.4190C>G (p.Pro1397Arg)
c.3269C>G (p.Pro1090Arg)
c.3089C>G (p.Pro1030Arg)
c.2849C>G (p.Pro950Arg)
c.2468C>G (p.Pro823Arg)
c.1331C>G (p.Pro444Arg)
c.4400C>G (p.Pro1467Arg)
c.4301C>G (p.Pro1434Arg)
c.4271C>G (p.Pro1424Arg)
c.4241C>G (p.Pro1414Arg)
c.4112C>G (p.Pro1371Arg)
c.4091C>G (p.Pro1364Arg)
n.4427-1838C>G
dbSNP
6g.157198867C>TCA4067625ARID1Bc.4280C>T (p.Pro1427Leu)
c.4349C>T (p.Pro1450Leu)
c.4568C>T (p.Pro1523Leu)
c.4319C>T (p.Pro1440Leu)
c.4031C>T (p.Pro1344Leu)
c.2597C>T (p.Pro866Leu)
c.1760C>T (p.Pro587Leu)
c.1391C>T (p.Pro464Leu)
n.2902C>T
n.359C>T
c.4439C>T (p.Pro1480Leu)
n.2436C>T
c.1807C>T
c.1721C>T
n.1105C>T
c.1781C>T (p.Pro594Leu)
c.1940C>T (p.Pro647Leu)
c.4070C>T (p.Pro1357Leu)
c.4190C>T (p.Pro1397Leu)
c.3269C>T (p.Pro1090Leu)
c.3089C>T (p.Pro1030Leu)
c.2849C>T (p.Pro950Leu)
c.2468C>T (p.Pro823Leu)
c.1331C>T (p.Pro444Leu)
c.4400C>T (p.Pro1467Leu)
c.4301C>T (p.Pro1434Leu)
c.4271C>T (p.Pro1424Leu)
c.4241C>T (p.Pro1414Leu)
c.4112C>T (p.Pro1371Leu)
c.4091C>T (p.Pro1364Leu)
n.4427-1838C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.157198868G>ACA4067626ARID1Bc.4281G>A (p.Pro1427=)
c.4350G>A (p.Pro1450=)
c.4569G>A (p.Pro1523=)
c.4320G>A (p.Pro1440=)
c.4032G>A (p.Pro1344=)
c.2598G>A (p.Pro866=)
c.1761G>A (p.Pro587=)
c.1392G>A (p.Pro464=)
n.2903G>A
n.360G>A
c.4440G>A (p.Pro1480=)
n.2437G>A
c.1808G>A
c.1722G>A
n.1106G>A
c.1782G>A (p.Pro594=)
c.1941G>A (p.Pro647=)
c.4071G>A (p.Pro1357=)
c.4191G>A (p.Pro1397=)
c.3270G>A (p.Pro1090=)
c.3090G>A (p.Pro1030=)
c.2850G>A (p.Pro950=)
c.2469G>A (p.Pro823=)
c.1332G>A (p.Pro444=)
c.4401G>A (p.Pro1467=)
c.4302G>A (p.Pro1434=)
c.4272G>A (p.Pro1424=)
c.4242G>A (p.Pro1414=)
c.4113G>A (p.Pro1371=)
c.4092G>A (p.Pro1364=)
n.4427-1837G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157198868G>CCA452783955ARID1Bc.4281G>C (p.Pro1427=)
c.4350G>C (p.Pro1450=)
c.4569G>C (p.Pro1523=)
c.4320G>C (p.Pro1440=)
c.4032G>C (p.Pro1344=)
c.2598G>C (p.Pro866=)
c.1761G>C (p.Pro587=)
c.1392G>C (p.Pro464=)
n.2903G>C
n.360G>C
c.4440G>C (p.Pro1480=)
n.2437G>C
c.1808G>C
c.1722G>C
n.1106G>C
c.1782G>C (p.Pro594=)
c.1941G>C (p.Pro647=)
c.4071G>C (p.Pro1357=)
c.4191G>C (p.Pro1397=)
c.3270G>C (p.Pro1090=)
c.3090G>C (p.Pro1030=)
c.2850G>C (p.Pro950=)
c.2469G>C (p.Pro823=)
c.1332G>C (p.Pro444=)
c.4401G>C (p.Pro1467=)
c.4302G>C (p.Pro1434=)
c.4272G>C (p.Pro1424=)
c.4242G>C (p.Pro1414=)
c.4113G>C (p.Pro1371=)
c.4092G>C (p.Pro1364=)
n.4427-1837G>C
dbSNP
6g.157198868G=CA1675542239ARID1Bc.4281G= (p.Pro1427=)
c.4350G= (p.Pro1450=)
c.4569G= (p.Pro1523=)
c.4320G= (p.Pro1440=)
c.4032G= (p.Pro1344=)
c.2598G= (p.Pro866=)
c.1761G= (p.Pro587=)
c.1392G= (p.Pro464=)
n.2903G=
n.360G=
c.4440G= (p.Pro1480=)
n.2437G=
c.1808G=
c.1722G=
n.1106G=
c.1782G= (p.Pro594=)
c.1941G= (p.Pro647=)
c.4071G= (p.Pro1357=)
c.4191G= (p.Pro1397=)
c.3270G= (p.Pro1090=)
c.3090G= (p.Pro1030=)
c.2850G= (p.Pro950=)
c.2469G= (p.Pro823=)
c.1332G= (p.Pro444=)
c.4401G= (p.Pro1467=)
c.4302G= (p.Pro1434=)
c.4272G= (p.Pro1424=)
c.4242G= (p.Pro1414=)
c.4113G= (p.Pro1371=)
c.4092G= (p.Pro1364=)
n.4427-1837G=
6g.157198868G>TCA452783957ARID1Bc.4281G>T (p.Pro1427=)
c.4350G>T (p.Pro1450=)
c.4569G>T (p.Pro1523=)
c.4320G>T (p.Pro1440=)
c.4032G>T (p.Pro1344=)
c.2598G>T (p.Pro866=)
c.1761G>T (p.Pro587=)
c.1392G>T (p.Pro464=)
n.2903G>T
n.360G>T
c.4440G>T (p.Pro1480=)
n.2437G>T
c.1808G>T
c.1722G>T
n.1106G>T
c.1782G>T (p.Pro594=)
c.1941G>T (p.Pro647=)
c.4071G>T (p.Pro1357=)
c.4191G>T (p.Pro1397=)
c.3270G>T (p.Pro1090=)
c.3090G>T (p.Pro1030=)
c.2850G>T (p.Pro950=)
c.2469G>T (p.Pro823=)
c.1332G>T (p.Pro444=)
c.4401G>T (p.Pro1467=)
c.4302G>T (p.Pro1434=)
c.4272G>T (p.Pro1424=)
c.4242G>T (p.Pro1414=)
c.4113G>T (p.Pro1371=)
c.4092G>T (p.Pro1364=)
n.4427-1837G>T
gnomAD v4
6g.157198869T>ACA366239773ARID1Bc.4282T>A (p.Tyr1428Asn)
c.4351T>A (p.Tyr1451Asn)
c.4570T>A (p.Tyr1524Asn)
c.4321T>A (p.Tyr1441Asn)
c.4033T>A (p.Tyr1345Asn)
c.2599T>A (p.Tyr867Asn)
c.1762T>A (p.Tyr588Asn)
c.1393T>A (p.Tyr465Asn)
n.2904T>A
n.361T>A
c.4441T>A (p.Tyr1481Asn)
n.2438T>A
c.1809T>A
c.1723T>A
n.1107T>A
c.1783T>A (p.Tyr595Asn)
c.1942T>A (p.Tyr648Asn)
c.4072T>A (p.Tyr1358Asn)
c.4192T>A (p.Tyr1398Asn)
c.3271T>A (p.Tyr1091Asn)
c.3091T>A (p.Tyr1031Asn)
c.2851T>A (p.Tyr951Asn)
c.2470T>A (p.Tyr824Asn)
c.1333T>A (p.Tyr445Asn)
c.4402T>A (p.Tyr1468Asn)
c.4303T>A (p.Tyr1435Asn)
c.4273T>A (p.Tyr1425Asn)
c.4243T>A (p.Tyr1415Asn)
c.4114T>A (p.Tyr1372Asn)
c.4093T>A (p.Tyr1365Asn)
n.4427-1836T>A
dbSNP
6g.157198869T>CCA366239774ARID1Bc.4282T>C (p.Tyr1428His)
c.4351T>C (p.Tyr1451His)
c.4570T>C (p.Tyr1524His)
c.4321T>C (p.Tyr1441His)
c.4033T>C (p.Tyr1345His)
c.2599T>C (p.Tyr867His)
c.1762T>C (p.Tyr588His)
c.1393T>C (p.Tyr465His)
n.2904T>C
n.361T>C
c.4441T>C (p.Tyr1481His)
n.2438T>C
c.1809T>C
c.1723T>C
n.1107T>C
c.1783T>C (p.Tyr595His)
c.1942T>C (p.Tyr648His)
c.4072T>C (p.Tyr1358His)
c.4192T>C (p.Tyr1398His)
c.3271T>C (p.Tyr1091His)
c.3091T>C (p.Tyr1031His)
c.2851T>C (p.Tyr951His)
c.2470T>C (p.Tyr824His)
c.1333T>C (p.Tyr445His)
c.4402T>C (p.Tyr1468His)
c.4303T>C (p.Tyr1435His)
c.4273T>C (p.Tyr1425His)
c.4243T>C (p.Tyr1415His)
c.4114T>C (p.Tyr1372His)
c.4093T>C (p.Tyr1365His)
n.4427-1836T>C
gnomAD v4
6g.157198869T>GCA366239775ARID1Bc.4282T>G (p.Tyr1428Asp)
c.4351T>G (p.Tyr1451Asp)
c.4570T>G (p.Tyr1524Asp)
c.4321T>G (p.Tyr1441Asp)
c.4033T>G (p.Tyr1345Asp)
c.2599T>G (p.Tyr867Asp)
c.1762T>G (p.Tyr588Asp)
c.1393T>G (p.Tyr465Asp)
n.2904T>G
n.361T>G
c.4441T>G (p.Tyr1481Asp)
n.2438T>G
c.1809T>G
c.1723T>G
n.1107T>G
c.1783T>G (p.Tyr595Asp)
c.1942T>G (p.Tyr648Asp)
c.4072T>G (p.Tyr1358Asp)
c.4192T>G (p.Tyr1398Asp)
c.3271T>G (p.Tyr1091Asp)
c.3091T>G (p.Tyr1031Asp)
c.2851T>G (p.Tyr951Asp)
c.2470T>G (p.Tyr824Asp)
c.1333T>G (p.Tyr445Asp)
c.4402T>G (p.Tyr1468Asp)
c.4303T>G (p.Tyr1435Asp)
c.4273T>G (p.Tyr1425Asp)
c.4243T>G (p.Tyr1415Asp)
c.4114T>G (p.Tyr1372Asp)
c.4093T>G (p.Tyr1365Asp)
n.4427-1836T>G
dbSNP
6g.157198869dupCA2580615813ARID1Bc.4282dup (p.Tyr1428LeufsTer?)
c.4351dup (p.Tyr1451LeufsTer?)
c.4570dup (p.Tyr1524LeufsTer?)
c.4321dup (p.Tyr1441LeufsTer?)
c.4033dup (p.Tyr1345LeufsTer?)
c.2599dup (p.Tyr867LeufsTer?)
c.1762dup (p.Tyr588LeufsTer?)
c.1393dup (p.Tyr465LeufsTer?)
n.2904dup
n.361dup
c.4441dup (p.Tyr1481LeufsTer?)
n.2438dup
c.1809dup
c.1723dup
n.1107dup
c.1783dup (p.Tyr595LeufsTer?)
c.1942dup (p.Tyr648LeufsTer?)
c.4072dup (p.Tyr1358LeufsTer?)
c.4192dup (p.Tyr1398LeufsTer?)
c.3271dup (p.Tyr1091LeufsTer?)
c.3091dup (p.Tyr1031LeufsTer?)
c.2851dup (p.Tyr951LeufsTer?)
c.2470dup (p.Tyr824LeufsTer?)
c.1333dup (p.Tyr445LeufsTer?)
c.4402dup (p.Tyr1468LeufsTer?)
c.4303dup (p.Tyr1435LeufsTer?)
c.4273dup (p.Tyr1425LeufsTer?)
c.4243dup (p.Tyr1415LeufsTer?)
c.4114dup (p.Tyr1372LeufsTer?)
c.4093dup (p.Tyr1365LeufsTer?)
n.4427-1836dup
ClinVar
6g.157198870_157198871dupCA2695196506ARID1Bc.4283_4284dup (p.Gly1429MetfsTer?)
c.4352_4353dup (p.Gly1452MetfsTer?)
c.4571_4572dup (p.Gly1525MetfsTer?)
c.4322_4323dup (p.Gly1442MetfsTer?)
c.4034_4035dup (p.Gly1346MetfsTer?)
c.2600_2601dup (p.Gly868MetfsTer?)
c.1763_1764dup (p.Gly589MetfsTer?)
c.1394_1395dup (p.Gly466MetfsTer?)
n.2905_2906dup
n.362_363dup
c.4442_4443dup (p.Gly1482MetfsTer?)
n.2439_2440dup
c.1810_1811dup
c.1724_1725dup
n.1108_1109dup
c.1784_1785dup (p.Gly596MetfsTer?)
c.1943_1944dup (p.Gly649MetfsTer?)
c.4073_4074dup (p.Gly1359MetfsTer?)
c.4193_4194dup (p.Gly1399MetfsTer?)
c.3272_3273dup (p.Gly1092MetfsTer?)
c.3092_3093dup (p.Gly1032MetfsTer?)
c.2852_2853dup (p.Gly952MetfsTer?)
c.2471_2472dup (p.Gly825MetfsTer?)
c.1334_1335dup (p.Gly446MetfsTer?)
c.4403_4404dup (p.Gly1469MetfsTer?)
c.4304_4305dup (p.Gly1436MetfsTer?)
c.4274_4275dup (p.Gly1426MetfsTer?)
c.4244_4245dup (p.Gly1416MetfsTer?)
c.4115_4116dup (p.Gly1373MetfsTer?)
c.4094_4095dup (p.Gly1366MetfsTer?)
n.4427-1835_4427-1834dup
6g.157198870A>CCA366239776ARID1Bc.4283A>C (p.Tyr1428Ser)
c.4352A>C (p.Tyr1451Ser)
c.4571A>C (p.Tyr1524Ser)
c.4322A>C (p.Tyr1441Ser)
c.4034A>C (p.Tyr1345Ser)
c.2600A>C (p.Tyr867Ser)
c.1763A>C (p.Tyr588Ser)
c.1394A>C (p.Tyr465Ser)
n.2905A>C
n.362A>C
c.4442A>C (p.Tyr1481Ser)
n.2439A>C
c.1810A>C
c.1724A>C
n.1108A>C
c.1784A>C (p.Tyr595Ser)
c.1943A>C (p.Tyr648Ser)
c.4073A>C (p.Tyr1358Ser)
c.4193A>C (p.Tyr1398Ser)
c.3272A>C (p.Tyr1091Ser)
c.3092A>C (p.Tyr1031Ser)
c.2852A>C (p.Tyr951Ser)
c.2471A>C (p.Tyr824Ser)
c.1334A>C (p.Tyr445Ser)
c.4403A>C (p.Tyr1468Ser)
c.4304A>C (p.Tyr1435Ser)
c.4274A>C (p.Tyr1425Ser)
c.4244A>C (p.Tyr1415Ser)
c.4115A>C (p.Tyr1372Ser)
c.4094A>C (p.Tyr1365Ser)
n.4427-1835A>C
6g.157198870A>GCA366239777ARID1Bc.4283A>G (p.Tyr1428Cys)
c.4352A>G (p.Tyr1451Cys)
c.4571A>G (p.Tyr1524Cys)
c.4322A>G (p.Tyr1441Cys)
c.4034A>G (p.Tyr1345Cys)
c.2600A>G (p.Tyr867Cys)
c.1763A>G (p.Tyr588Cys)
c.1394A>G (p.Tyr465Cys)
n.2905A>G
n.362A>G
c.4442A>G (p.Tyr1481Cys)
n.2439A>G
c.1810A>G
c.1724A>G
n.1108A>G
c.1784A>G (p.Tyr595Cys)
c.1943A>G (p.Tyr648Cys)
c.4073A>G (p.Tyr1358Cys)
c.4193A>G (p.Tyr1398Cys)
c.3272A>G (p.Tyr1091Cys)
c.3092A>G (p.Tyr1031Cys)
c.2852A>G (p.Tyr951Cys)
c.2471A>G (p.Tyr824Cys)
c.1334A>G (p.Tyr445Cys)
c.4403A>G (p.Tyr1468Cys)
c.4304A>G (p.Tyr1435Cys)
c.4274A>G (p.Tyr1425Cys)
c.4244A>G (p.Tyr1415Cys)
c.4115A>G (p.Tyr1372Cys)
c.4094A>G (p.Tyr1365Cys)
n.4427-1835A>G
6g.157198870A>TCA366239778ARID1Bc.4283A>T (p.Tyr1428Phe)
c.4352A>T (p.Tyr1451Phe)
c.4571A>T (p.Tyr1524Phe)
c.4322A>T (p.Tyr1441Phe)
c.4034A>T (p.Tyr1345Phe)
c.2600A>T (p.Tyr867Phe)
c.1763A>T (p.Tyr588Phe)
c.1394A>T (p.Tyr465Phe)
n.2905A>T
n.362A>T
c.4442A>T (p.Tyr1481Phe)
n.2439A>T
c.1810A>T
c.1724A>T
n.1108A>T
c.1784A>T (p.Tyr595Phe)
c.1943A>T (p.Tyr648Phe)
c.4073A>T (p.Tyr1358Phe)
c.4193A>T (p.Tyr1398Phe)
c.3272A>T (p.Tyr1091Phe)
c.3092A>T (p.Tyr1031Phe)
c.2852A>T (p.Tyr951Phe)
c.2471A>T (p.Tyr824Phe)
c.1334A>T (p.Tyr445Phe)
c.4403A>T (p.Tyr1468Phe)
c.4304A>T (p.Tyr1435Phe)
c.4274A>T (p.Tyr1425Phe)
c.4244A>T (p.Tyr1415Phe)
c.4115A>T (p.Tyr1372Phe)
c.4094A>T (p.Tyr1365Phe)
n.4427-1835A>T
6g.157198871T>ACA366239779ARID1Bc.4284T>A (p.Tyr1428Ter)
c.4353T>A (p.Tyr1451Ter)
c.4572T>A (p.Tyr1524Ter)
c.4323T>A (p.Tyr1441Ter)
c.4035T>A (p.Tyr1345Ter)
c.2601T>A (p.Tyr867Ter)
c.1764T>A (p.Tyr588Ter)
c.1395T>A (p.Tyr465Ter)
n.2906T>A
n.363T>A
c.4443T>A (p.Tyr1481Ter)
n.2440T>A
c.1811T>A
c.1725T>A
n.1109T>A
c.1785T>A (p.Tyr595Ter)
c.1944T>A (p.Tyr648Ter)
c.4074T>A (p.Tyr1358Ter)
c.4194T>A (p.Tyr1398Ter)
c.3273T>A (p.Tyr1091Ter)
c.3093T>A (p.Tyr1031Ter)
c.2853T>A (p.Tyr951Ter)
c.2472T>A (p.Tyr824Ter)
c.1335T>A (p.Tyr445Ter)
c.4404T>A (p.Tyr1468Ter)
c.4305T>A (p.Tyr1435Ter)
c.4275T>A (p.Tyr1425Ter)
c.4245T>A (p.Tyr1415Ter)
c.4116T>A (p.Tyr1372Ter)
c.4095T>A (p.Tyr1365Ter)
n.4427-1834T>A
6g.157198871T>CCA452783960ARID1Bc.4284T>C (p.Tyr1428=)
c.4353T>C (p.Tyr1451=)
c.4572T>C (p.Tyr1524=)
c.4323T>C (p.Tyr1441=)
c.4035T>C (p.Tyr1345=)
c.2601T>C (p.Tyr867=)
c.1764T>C (p.Tyr588=)
c.1395T>C (p.Tyr465=)
n.2906T>C
n.363T>C
c.4443T>C (p.Tyr1481=)
n.2440T>C
c.1811T>C
c.1725T>C
n.1109T>C
c.1785T>C (p.Tyr595=)
c.1944T>C (p.Tyr648=)
c.4074T>C (p.Tyr1358=)
c.4194T>C (p.Tyr1398=)
c.3273T>C (p.Tyr1091=)
c.3093T>C (p.Tyr1031=)
c.2853T>C (p.Tyr951=)
c.2472T>C (p.Tyr824=)
c.1335T>C (p.Tyr445=)
c.4404T>C (p.Tyr1468=)
c.4305T>C (p.Tyr1435=)
c.4275T>C (p.Tyr1425=)
c.4245T>C (p.Tyr1415=)
c.4116T>C (p.Tyr1372=)
c.4095T>C (p.Tyr1365=)
n.4427-1834T>C
6g.157198871T>GCA366239780ARID1Bc.4284T>G (p.Tyr1428Ter)
c.4353T>G (p.Tyr1451Ter)
c.4572T>G (p.Tyr1524Ter)
c.4323T>G (p.Tyr1441Ter)
c.4035T>G (p.Tyr1345Ter)
c.2601T>G (p.Tyr867Ter)
c.1764T>G (p.Tyr588Ter)
c.1395T>G (p.Tyr465Ter)
n.2906T>G
n.363T>G
c.4443T>G (p.Tyr1481Ter)
n.2440T>G
c.1811T>G
c.1725T>G
n.1109T>G
c.1785T>G (p.Tyr595Ter)
c.1944T>G (p.Tyr648Ter)
c.4074T>G (p.Tyr1358Ter)
c.4194T>G (p.Tyr1398Ter)
c.3273T>G (p.Tyr1091Ter)
c.3093T>G (p.Tyr1031Ter)
c.2853T>G (p.Tyr951Ter)
c.2472T>G (p.Tyr824Ter)
c.1335T>G (p.Tyr445Ter)
c.4404T>G (p.Tyr1468Ter)
c.4305T>G (p.Tyr1435Ter)
c.4275T>G (p.Tyr1425Ter)
c.4245T>G (p.Tyr1415Ter)
c.4116T>G (p.Tyr1372Ter)
c.4095T>G (p.Tyr1365Ter)
n.4427-1834T>G
6g.157198872G>ACA366239781ARID1Bc.4285G>A (p.Gly1429Arg)
c.4354G>A (p.Gly1452Arg)
c.4573G>A (p.Gly1525Arg)
c.4324G>A (p.Gly1442Arg)
c.4036G>A (p.Gly1346Arg)
c.2602G>A (p.Gly868Arg)
c.1765G>A (p.Gly589Arg)
c.1396G>A (p.Gly466Arg)
n.2907G>A
n.364G>A
c.4444G>A (p.Gly1482Arg)
n.2441G>A
c.1812G>A
c.1726G>A
n.1110G>A
c.1786G>A (p.Gly596Arg)
c.1945G>A (p.Gly649Arg)
c.4075G>A (p.Gly1359Arg)
c.4195G>A (p.Gly1399Arg)
c.3274G>A (p.Gly1092Arg)
c.3094G>A (p.Gly1032Arg)
c.2854G>A (p.Gly952Arg)
c.2473G>A (p.Gly825Arg)
c.1336G>A (p.Gly446Arg)
c.4405G>A (p.Gly1469Arg)
c.4306G>A (p.Gly1436Arg)
c.4276G>A (p.Gly1426Arg)
c.4246G>A (p.Gly1416Arg)
c.4117G>A (p.Gly1373Arg)
c.4096G>A (p.Gly1366Arg)
n.4427-1833G>A
dbSNP
6g.157198872G>CCA366239782ARID1Bc.4285G>C (p.Gly1429Arg)
c.4354G>C (p.Gly1452Arg)
c.4573G>C (p.Gly1525Arg)
c.4324G>C (p.Gly1442Arg)
c.4036G>C (p.Gly1346Arg)
c.2602G>C (p.Gly868Arg)
c.1765G>C (p.Gly589Arg)
c.1396G>C (p.Gly466Arg)
n.2907G>C
n.364G>C
c.4444G>C (p.Gly1482Arg)
n.2441G>C
c.1812G>C
c.1726G>C
n.1110G>C
c.1786G>C (p.Gly596Arg)
c.1945G>C (p.Gly649Arg)
c.4075G>C (p.Gly1359Arg)
c.4195G>C (p.Gly1399Arg)
c.3274G>C (p.Gly1092Arg)
c.3094G>C (p.Gly1032Arg)
c.2854G>C (p.Gly952Arg)
c.2473G>C (p.Gly825Arg)
c.1336G>C (p.Gly446Arg)
c.4405G>C (p.Gly1469Arg)
c.4306G>C (p.Gly1436Arg)
c.4276G>C (p.Gly1426Arg)
c.4246G>C (p.Gly1416Arg)
c.4117G>C (p.Gly1373Arg)
c.4096G>C (p.Gly1366Arg)
n.4427-1833G>C
dbSNP
6g.157198872G=CA1675542240ARID1Bc.4285G= (p.Gly1429=)
c.4354G= (p.Gly1452=)
c.4573G= (p.Gly1525=)
c.4324G= (p.Gly1442=)
c.4036G= (p.Gly1346=)
c.2602G= (p.Gly868=)
c.1765G= (p.Gly589=)
c.1396G= (p.Gly466=)
n.2907G=
n.364G=
c.4444G= (p.Gly1482=)
n.2441G=
c.1812G=
c.1726G=
n.1110G=
c.1786G= (p.Gly596=)
c.1945G= (p.Gly649=)
c.4075G= (p.Gly1359=)
c.4195G= (p.Gly1399=)
c.3274G= (p.Gly1092=)
c.3094G= (p.Gly1032=)
c.2854G= (p.Gly952=)
c.2473G= (p.Gly825=)
c.1336G= (p.Gly446=)
c.4405G= (p.Gly1469=)
c.4306G= (p.Gly1436=)
c.4276G= (p.Gly1426=)
c.4246G= (p.Gly1416=)
c.4117G= (p.Gly1373=)
c.4096G= (p.Gly1366=)
n.4427-1833G=
6g.157198872G>TCA366239783ARID1Bc.4285G>T (p.Gly1429Ter)
c.4354G>T (p.Gly1452Ter)
c.4573G>T (p.Gly1525Ter)
c.4324G>T (p.Gly1442Ter)
c.4036G>T (p.Gly1346Ter)
c.2602G>T (p.Gly868Ter)
c.1765G>T (p.Gly589Ter)
c.1396G>T (p.Gly466Ter)
n.2907G>T
n.364G>T
c.4444G>T (p.Gly1482Ter)
n.2441G>T
c.1812G>T
c.1726G>T
n.1110G>T
c.1786G>T (p.Gly596Ter)
c.1945G>T (p.Gly649Ter)
c.4075G>T (p.Gly1359Ter)
c.4195G>T (p.Gly1399Ter)
c.3274G>T (p.Gly1092Ter)
c.3094G>T (p.Gly1032Ter)
c.2854G>T (p.Gly952Ter)
c.2473G>T (p.Gly825Ter)
c.1336G>T (p.Gly446Ter)
c.4405G>T (p.Gly1469Ter)
c.4306G>T (p.Gly1436Ter)
c.4276G>T (p.Gly1426Ter)
c.4246G>T (p.Gly1416Ter)
c.4117G>T (p.Gly1373Ter)
c.4096G>T (p.Gly1366Ter)
n.4427-1833G>T
dbSNP COSMIC COSMIC
6g.157198872_157198873dupCA2499218163ARID1Bc.4285_4286dup (p.Gly1430GlufsTer?)
c.4354_4355dup (p.Gly1453GlufsTer?)
c.4573_4574dup (p.Gly1526GlufsTer?)
c.4324_4325dup (p.Gly1443GlufsTer?)
c.4036_4037dup (p.Gly1347GlufsTer?)
c.2602_2603dup (p.Gly869GlufsTer?)
c.1765_1766dup (p.Gly590GlufsTer?)
c.1396_1397dup (p.Gly467GlufsTer?)
n.2907_2908dup
n.364_365dup
c.4444_4445dup (p.Gly1483GlufsTer?)
n.2441_2442dup
c.1812_1813dup
c.1726_1727dup
n.1110_1111dup
c.1786_1787dup (p.Gly597GlufsTer?)
c.1945_1946dup (p.Gly650GlufsTer?)
c.4075_4076dup (p.Gly1360GlufsTer?)
c.4195_4196dup (p.Gly1400GlufsTer?)
c.3274_3275dup (p.Gly1093GlufsTer?)
c.3094_3095dup (p.Gly1033GlufsTer?)
c.2854_2855dup (p.Gly953GlufsTer?)
c.2473_2474dup (p.Gly826GlufsTer?)
c.1336_1337dup (p.Gly447GlufsTer?)
c.4405_4406dup (p.Gly1470GlufsTer?)
c.4306_4307dup (p.Gly1437GlufsTer?)
c.4276_4277dup (p.Gly1427GlufsTer?)
c.4246_4247dup (p.Gly1417GlufsTer?)
c.4117_4118dup (p.Gly1374GlufsTer?)
c.4096_4097dup (p.Gly1367GlufsTer?)
n.4427-1833_4427-1832dup
ClinVar dbSNP
6g.157198873G>ACA366239786ARID1Bc.4286G>A (p.Gly1429Glu)
c.4355G>A (p.Gly1452Glu)
c.4574G>A (p.Gly1525Glu)
c.4325G>A (p.Gly1442Glu)
c.4037G>A (p.Gly1346Glu)
c.2603G>A (p.Gly868Glu)
c.1766G>A (p.Gly589Glu)
c.1397G>A (p.Gly466Glu)
n.2908G>A
n.365G>A
c.4445G>A (p.Gly1482Glu)
n.2442G>A
c.1813G>A
c.1727G>A
n.1111G>A
c.1787G>A (p.Gly596Glu)
c.1946G>A (p.Gly649Glu)
c.4076G>A (p.Gly1359Glu)
c.4196G>A (p.Gly1399Glu)
c.3275G>A (p.Gly1092Glu)
c.3095G>A (p.Gly1032Glu)
c.2855G>A (p.Gly952Glu)
c.2474G>A (p.Gly825Glu)
c.1337G>A (p.Gly446Glu)
c.4406G>A (p.Gly1469Glu)
c.4307G>A (p.Gly1436Glu)
c.4277G>A (p.Gly1426Glu)
c.4247G>A (p.Gly1416Glu)
c.4118G>A (p.Gly1373Glu)
c.4097G>A (p.Gly1366Glu)
n.4427-1832G>A
dbSNP gnomAD v2
6g.157198873G>CCA366239784ARID1Bc.4286G>C (p.Gly1429Ala)
c.4355G>C (p.Gly1452Ala)
c.4574G>C (p.Gly1525Ala)
c.4325G>C (p.Gly1442Ala)
c.4037G>C (p.Gly1346Ala)
c.2603G>C (p.Gly868Ala)
c.1766G>C (p.Gly589Ala)
c.1397G>C (p.Gly466Ala)
n.2908G>C
n.365G>C
c.4445G>C (p.Gly1482Ala)
n.2442G>C
c.1813G>C
c.1727G>C
n.1111G>C
c.1787G>C (p.Gly596Ala)
c.1946G>C (p.Gly649Ala)
c.4076G>C (p.Gly1359Ala)
c.4196G>C (p.Gly1399Ala)
c.3275G>C (p.Gly1092Ala)
c.3095G>C (p.Gly1032Ala)
c.2855G>C (p.Gly952Ala)
c.2474G>C (p.Gly825Ala)
c.1337G>C (p.Gly446Ala)
c.4406G>C (p.Gly1469Ala)
c.4307G>C (p.Gly1436Ala)
c.4277G>C (p.Gly1426Ala)
c.4247G>C (p.Gly1416Ala)
c.4118G>C (p.Gly1373Ala)
c.4097G>C (p.Gly1366Ala)
n.4427-1832G>C
dbSNP
6g.157198873G=CA1675542241ARID1Bc.4286G= (p.Gly1429=)
c.4355G= (p.Gly1452=)
c.4574G= (p.Gly1525=)
c.4325G= (p.Gly1442=)
c.4037G= (p.Gly1346=)
c.2603G= (p.Gly868=)
c.1766G= (p.Gly589=)
c.1397G= (p.Gly466=)
n.2908G=
n.365G=
c.4445G= (p.Gly1482=)
n.2442G=
c.1813G=
c.1727G=
n.1111G=
c.1787G= (p.Gly596=)
c.1946G= (p.Gly649=)
c.4076G= (p.Gly1359=)
c.4196G= (p.Gly1399=)
c.3275G= (p.Gly1092=)
c.3095G= (p.Gly1032=)
c.2855G= (p.Gly952=)
c.2474G= (p.Gly825=)
c.1337G= (p.Gly446=)
c.4406G= (p.Gly1469=)
c.4307G= (p.Gly1436=)
c.4277G= (p.Gly1426=)
c.4247G= (p.Gly1416=)
c.4118G= (p.Gly1373=)
c.4097G= (p.Gly1366=)
n.4427-1832G=
6g.157198873G>TCA366239785ARID1Bc.4286G>T (p.Gly1429Val)
c.4355G>T (p.Gly1452Val)
c.4574G>T (p.Gly1525Val)
c.4325G>T (p.Gly1442Val)
c.4037G>T (p.Gly1346Val)
c.2603G>T (p.Gly868Val)
c.1766G>T (p.Gly589Val)
c.1397G>T (p.Gly466Val)
n.2908G>T
n.365G>T
c.4445G>T (p.Gly1482Val)
n.2442G>T
c.1813G>T
c.1727G>T
n.1111G>T
c.1787G>T (p.Gly596Val)
c.1946G>T (p.Gly649Val)
c.4076G>T (p.Gly1359Val)
c.4196G>T (p.Gly1399Val)
c.3275G>T (p.Gly1092Val)
c.3095G>T (p.Gly1032Val)
c.2855G>T (p.Gly952Val)
c.2474G>T (p.Gly825Val)
c.1337G>T (p.Gly446Val)
c.4406G>T (p.Gly1469Val)
c.4307G>T (p.Gly1436Val)
c.4277G>T (p.Gly1426Val)
c.4247G>T (p.Gly1416Val)
c.4118G>T (p.Gly1373Val)
c.4097G>T (p.Gly1366Val)
n.4427-1832G>T
6g.157198874A>CCA452783963ARID1Bc.4287A>C (p.Gly1429=)
c.4356A>C (p.Gly1452=)
c.4575A>C (p.Gly1525=)
c.4326A>C (p.Gly1442=)
c.4038A>C (p.Gly1346=)
c.2604A>C (p.Gly868=)
c.1767A>C (p.Gly589=)
c.1398A>C (p.Gly466=)
n.2909A>C
n.366A>C
c.4446A>C (p.Gly1482=)
n.2443A>C
c.1814A>C
c.1728A>C
n.1112A>C
c.1788A>C (p.Gly596=)
c.1947A>C (p.Gly649=)
c.4077A>C (p.Gly1359=)
c.4197A>C (p.Gly1399=)
c.3276A>C (p.Gly1092=)
c.3096A>C (p.Gly1032=)
c.2856A>C (p.Gly952=)
c.2475A>C (p.Gly825=)
c.1338A>C (p.Gly446=)
c.4407A>C (p.Gly1469=)
c.4308A>C (p.Gly1436=)
c.4278A>C (p.Gly1426=)
c.4248A>C (p.Gly1416=)
c.4119A>C (p.Gly1373=)
c.4098A>C (p.Gly1366=)
n.4427-1831A>C
6g.157198874A>GCA452783965ARID1Bc.4287A>G (p.Gly1429=)
c.4356A>G (p.Gly1452=)
c.4575A>G (p.Gly1525=)
c.4326A>G (p.Gly1442=)
c.4038A>G (p.Gly1346=)
c.2604A>G (p.Gly868=)
c.1767A>G (p.Gly589=)
c.1398A>G (p.Gly466=)
n.2909A>G
n.366A>G
c.4446A>G (p.Gly1482=)
n.2443A>G
c.1814A>G
c.1728A>G
n.1112A>G
c.1788A>G (p.Gly596=)
c.1947A>G (p.Gly649=)
c.4077A>G (p.Gly1359=)
c.4197A>G (p.Gly1399=)
c.3276A>G (p.Gly1092=)
c.3096A>G (p.Gly1032=)
c.2856A>G (p.Gly952=)
c.2475A>G (p.Gly825=)
c.1338A>G (p.Gly446=)
c.4407A>G (p.Gly1469=)
c.4308A>G (p.Gly1436=)
c.4278A>G (p.Gly1426=)
c.4248A>G (p.Gly1416=)
c.4119A>G (p.Gly1373=)
c.4098A>G (p.Gly1366=)
n.4427-1831A>G
dbSNP
6g.157198874A>TCA452783966ARID1Bc.4287A>T (p.Gly1429=)
c.4356A>T (p.Gly1452=)
c.4575A>T (p.Gly1525=)
c.4326A>T (p.Gly1442=)
c.4038A>T (p.Gly1346=)
c.2604A>T (p.Gly868=)
c.1767A>T (p.Gly589=)
c.1398A>T (p.Gly466=)
n.2909A>T
n.366A>T
c.4446A>T (p.Gly1482=)
n.2443A>T
c.1814A>T
c.1728A>T
n.1112A>T
c.1788A>T (p.Gly596=)
c.1947A>T (p.Gly649=)
c.4077A>T (p.Gly1359=)
c.4197A>T (p.Gly1399=)
c.3276A>T (p.Gly1092=)
c.3096A>T (p.Gly1032=)
c.2856A>T (p.Gly952=)
c.2475A>T (p.Gly825=)
c.1338A>T (p.Gly446=)
c.4407A>T (p.Gly1469=)
c.4308A>T (p.Gly1436=)
c.4278A>T (p.Gly1426=)
c.4248A>T (p.Gly1416=)
c.4119A>T (p.Gly1373=)
c.4098A>T (p.Gly1366=)
n.4427-1831A>T
dbSNP
6g.157198875G>ACA366239787ARID1Bc.4288G>A (p.Gly1430Arg)
c.4357G>A (p.Gly1453Arg)
c.4576G>A (p.Gly1526Arg)
c.4327G>A (p.Gly1443Arg)
c.4039G>A (p.Gly1347Arg)
c.2605G>A (p.Gly869Arg)
c.1768G>A (p.Gly590Arg)
c.1399G>A (p.Gly467Arg)
n.2910G>A
n.367G>A
c.4447G>A (p.Gly1483Arg)
n.2444G>A
c.1815G>A
c.1729G>A
n.1113G>A
c.1789G>A (p.Gly597Arg)
c.1948G>A (p.Gly650Arg)
c.4078G>A (p.Gly1360Arg)
c.4198G>A (p.Gly1400Arg)
c.3277G>A (p.Gly1093Arg)
c.3097G>A (p.Gly1033Arg)
c.2857G>A (p.Gly953Arg)
c.2476G>A (p.Gly826Arg)
c.1339G>A (p.Gly447Arg)
c.4408G>A (p.Gly1470Arg)
c.4309G>A (p.Gly1437Arg)
c.4279G>A (p.Gly1427Arg)
c.4249G>A (p.Gly1417Arg)
c.4120G>A (p.Gly1374Arg)
c.4099G>A (p.Gly1367Arg)
n.4427-1830G>A
dbSNP gnomAD v4
6g.157198875G>CCA366239788ARID1Bc.4288G>C (p.Gly1430Arg)
c.4357G>C (p.Gly1453Arg)
c.4576G>C (p.Gly1526Arg)
c.4327G>C (p.Gly1443Arg)
c.4039G>C (p.Gly1347Arg)
c.2605G>C (p.Gly869Arg)
c.1768G>C (p.Gly590Arg)
c.1399G>C (p.Gly467Arg)
n.2910G>C
n.367G>C
c.4447G>C (p.Gly1483Arg)
n.2444G>C
c.1815G>C
c.1729G>C
n.1113G>C
c.1789G>C (p.Gly597Arg)
c.1948G>C (p.Gly650Arg)
c.4078G>C (p.Gly1360Arg)
c.4198G>C (p.Gly1400Arg)
c.3277G>C (p.Gly1093Arg)
c.3097G>C (p.Gly1033Arg)
c.2857G>C (p.Gly953Arg)
c.2476G>C (p.Gly826Arg)
c.1339G>C (p.Gly447Arg)
c.4408G>C (p.Gly1470Arg)
c.4309G>C (p.Gly1437Arg)
c.4279G>C (p.Gly1427Arg)
c.4249G>C (p.Gly1417Arg)
c.4120G>C (p.Gly1374Arg)
c.4099G>C (p.Gly1367Arg)
n.4427-1830G>C
6g.157198875G>TCA366239789ARID1Bc.4288G>T (p.Gly1430Trp)
c.4357G>T (p.Gly1453Trp)
c.4576G>T (p.Gly1526Trp)
c.4327G>T (p.Gly1443Trp)
c.4039G>T (p.Gly1347Trp)
c.2605G>T (p.Gly869Trp)
c.1768G>T (p.Gly590Trp)
c.1399G>T (p.Gly467Trp)
n.2910G>T
n.367G>T
c.4447G>T (p.Gly1483Trp)
n.2444G>T
c.1815G>T
c.1729G>T
n.1113G>T
c.1789G>T (p.Gly597Trp)
c.1948G>T (p.Gly650Trp)
c.4078G>T (p.Gly1360Trp)
c.4198G>T (p.Gly1400Trp)
c.3277G>T (p.Gly1093Trp)
c.3097G>T (p.Gly1033Trp)
c.2857G>T (p.Gly953Trp)
c.2476G>T (p.Gly826Trp)
c.1339G>T (p.Gly447Trp)
c.4408G>T (p.Gly1470Trp)
c.4309G>T (p.Gly1437Trp)
c.4279G>T (p.Gly1427Trp)
c.4249G>T (p.Gly1417Trp)
c.4120G>T (p.Gly1374Trp)
c.4099G>T (p.Gly1367Trp)
n.4427-1830G>T
6g.157198876G>ACA366239790ARID1Bc.4289G>A (p.Gly1430Glu)
c.4358G>A (p.Gly1453Glu)
c.4577G>A (p.Gly1526Glu)
c.4328G>A (p.Gly1443Glu)
c.4040G>A (p.Gly1347Glu)
c.2606G>A (p.Gly869Glu)
c.1769G>A (p.Gly590Glu)
c.1400G>A (p.Gly467Glu)
n.2911G>A
n.368G>A
c.4448G>A (p.Gly1483Glu)
n.2445G>A
c.1816G>A
c.1730G>A
n.1114G>A
c.1790G>A (p.Gly597Glu)
c.1949G>A (p.Gly650Glu)
c.4079G>A (p.Gly1360Glu)
c.4199G>A (p.Gly1400Glu)
c.3278G>A (p.Gly1093Glu)
c.3098G>A (p.Gly1033Glu)
c.2858G>A (p.Gly953Glu)
c.2477G>A (p.Gly826Glu)
c.1340G>A (p.Gly447Glu)
c.4409G>A (p.Gly1470Glu)
c.4310G>A (p.Gly1437Glu)
c.4280G>A (p.Gly1427Glu)
c.4250G>A (p.Gly1417Glu)
c.4121G>A (p.Gly1374Glu)
c.4100G>A (p.Gly1367Glu)
n.4427-1829G>A
dbSNP
6g.157198876G>CCA366239791ARID1Bc.4289G>C (p.Gly1430Ala)
c.4358G>C (p.Gly1453Ala)
c.4577G>C (p.Gly1526Ala)
c.4328G>C (p.Gly1443Ala)
c.4040G>C (p.Gly1347Ala)
c.2606G>C (p.Gly869Ala)
c.1769G>C (p.Gly590Ala)
c.1400G>C (p.Gly467Ala)
n.2911G>C
n.368G>C
c.4448G>C (p.Gly1483Ala)
n.2445G>C
c.1816G>C
c.1730G>C
n.1114G>C
c.1790G>C (p.Gly597Ala)
c.1949G>C (p.Gly650Ala)
c.4079G>C (p.Gly1360Ala)
c.4199G>C (p.Gly1400Ala)
c.3278G>C (p.Gly1093Ala)
c.3098G>C (p.Gly1033Ala)
c.2858G>C (p.Gly953Ala)
c.2477G>C (p.Gly826Ala)
c.1340G>C (p.Gly447Ala)
c.4409G>C (p.Gly1470Ala)
c.4310G>C (p.Gly1437Ala)
c.4280G>C (p.Gly1427Ala)
c.4250G>C (p.Gly1417Ala)
c.4121G>C (p.Gly1374Ala)
c.4100G>C (p.Gly1367Ala)
n.4427-1829G>C
dbSNP gnomAD v4
6g.157198876G>TCA366239792ARID1Bc.4289G>T (p.Gly1430Val)
c.4358G>T (p.Gly1453Val)
c.4577G>T (p.Gly1526Val)
c.4328G>T (p.Gly1443Val)
c.4040G>T (p.Gly1347Val)
c.2606G>T (p.Gly869Val)
c.1769G>T (p.Gly590Val)
c.1400G>T (p.Gly467Val)
n.2911G>T
n.368G>T
c.4448G>T (p.Gly1483Val)
n.2445G>T
c.1816G>T
c.1730G>T
n.1114G>T
c.1790G>T (p.Gly597Val)
c.1949G>T (p.Gly650Val)
c.4079G>T (p.Gly1360Val)
c.4199G>T (p.Gly1400Val)
c.3278G>T (p.Gly1093Val)
c.3098G>T (p.Gly1033Val)
c.2858G>T (p.Gly953Val)
c.2477G>T (p.Gly826Val)
c.1340G>T (p.Gly447Val)
c.4409G>T (p.Gly1470Val)
c.4310G>T (p.Gly1437Val)
c.4280G>T (p.Gly1427Val)
c.4250G>T (p.Gly1417Val)
c.4121G>T (p.Gly1374Val)
c.4100G>T (p.Gly1367Val)
n.4427-1829G>T
COSMIC COSMIC
6g.157198877G>ACA4067627ARID1Bc.4290G>A (p.Gly1430=)
c.4359G>A (p.Gly1453=)
c.4578G>A (p.Gly1526=)
c.4329G>A (p.Gly1443=)
c.4041G>A (p.Gly1347=)
c.2607G>A (p.Gly869=)
c.1770G>A (p.Gly590=)
c.1401G>A (p.Gly467=)
n.2912G>A
n.369G>A
c.4449G>A (p.Gly1483=)
n.2446G>A
c.1817G>A
c.1731G>A
n.1115G>A
c.1791G>A (p.Gly597=)
c.1950G>A (p.Gly650=)
c.4080G>A (p.Gly1360=)
c.4200G>A (p.Gly1400=)
c.3279G>A (p.Gly1093=)
c.3099G>A (p.Gly1033=)
c.2859G>A (p.Gly953=)
c.2478G>A (p.Gly826=)
c.1341G>A (p.Gly447=)
c.4410G>A (p.Gly1470=)
c.4311G>A (p.Gly1437=)
c.4281G>A (p.Gly1427=)
c.4251G>A (p.Gly1417=)
c.4122G>A (p.Gly1374=)
c.4101G>A (p.Gly1367=)
n.4427-1828G>A
dbSNP ExAC gnomAD v2 gnomAD v4
6g.157198877G>CCA452783967ARID1Bc.4290G>C (p.Gly1430=)
c.4359G>C (p.Gly1453=)
c.4578G>C (p.Gly1526=)
c.4329G>C (p.Gly1443=)
c.4041G>C (p.Gly1347=)
c.2607G>C (p.Gly869=)
c.1770G>C (p.Gly590=)
c.1401G>C (p.Gly467=)
n.2912G>C
n.369G>C
c.4449G>C (p.Gly1483=)
n.2446G>C
c.1817G>C
c.1731G>C
n.1115G>C
c.1791G>C (p.Gly597=)
c.1950G>C (p.Gly650=)
c.4080G>C (p.Gly1360=)
c.4200G>C (p.Gly1400=)
c.3279G>C (p.Gly1093=)
c.3099G>C (p.Gly1033=)
c.2859G>C (p.Gly953=)
c.2478G>C (p.Gly826=)
c.1341G>C (p.Gly447=)
c.4410G>C (p.Gly1470=)
c.4311G>C (p.Gly1437=)
c.4281G>C (p.Gly1427=)
c.4251G>C (p.Gly1417=)
c.4122G>C (p.Gly1374=)
c.4101G>C (p.Gly1367=)
n.4427-1828G>C
6g.157198877G=CA1675542242ARID1Bc.4290G= (p.Gly1430=)
c.4359G= (p.Gly1453=)
c.4578G= (p.Gly1526=)
c.4329G= (p.Gly1443=)
c.4041G= (p.Gly1347=)
c.2607G= (p.Gly869=)
c.1770G= (p.Gly590=)
c.1401G= (p.Gly467=)
n.2912G=
n.369G=
c.4449G= (p.Gly1483=)
n.2446G=
c.1817G=
c.1731G=
n.1115G=
c.1791G= (p.Gly597=)
c.1950G= (p.Gly650=)
c.4080G= (p.Gly1360=)
c.4200G= (p.Gly1400=)
c.3279G= (p.Gly1093=)
c.3099G= (p.Gly1033=)
c.2859G= (p.Gly953=)
c.2478G= (p.Gly826=)
c.1341G= (p.Gly447=)
c.4410G= (p.Gly1470=)
c.4311G= (p.Gly1437=)
c.4281G= (p.Gly1427=)
c.4251G= (p.Gly1417=)
c.4122G= (p.Gly1374=)
c.4101G= (p.Gly1367=)
n.4427-1828G=
6g.157198877G>TCA452783968ARID1Bc.4290G>T (p.Gly1430=)
c.4359G>T (p.Gly1453=)
c.4578G>T (p.Gly1526=)
c.4329G>T (p.Gly1443=)
c.4041G>T (p.Gly1347=)
c.2607G>T (p.Gly869=)
c.1770G>T (p.Gly590=)
c.1401G>T (p.Gly467=)
n.2912G>T
n.369G>T
c.4449G>T (p.Gly1483=)
n.2446G>T
c.1817G>T
c.1731G>T
n.1115G>T
c.1791G>T (p.Gly597=)
c.1950G>T (p.Gly650=)
c.4080G>T (p.Gly1360=)
c.4200G>T (p.Gly1400=)
c.3279G>T (p.Gly1093=)
c.3099G>T (p.Gly1033=)
c.2859G>T (p.Gly953=)
c.2478G>T (p.Gly826=)
c.1341G>T (p.Gly447=)
c.4410G>T (p.Gly1470=)
c.4311G>T (p.Gly1437=)
c.4281G>T (p.Gly1427=)
c.4251G>T (p.Gly1417=)
c.4122G>T (p.Gly1374=)
c.4101G>T (p.Gly1367=)
n.4427-1828G>T
6g.157198878C>ACA366239793ARID1Bc.4291C>A (p.His1431Asn)
c.4360C>A (p.His1454Asn)
c.4579C>A (p.His1527Asn)
c.4330C>A (p.His1444Asn)
c.4042C>A (p.His1348Asn)
c.2608C>A (p.His870Asn)
c.1771C>A (p.His591Asn)
c.1402C>A (p.His468Asn)
n.2913C>A
n.370C>A
c.4450C>A (p.His1484Asn)
n.2447C>A
c.1818C>A
c.1732C>A
n.1116C>A
c.1792C>A (p.His598Asn)
c.1951C>A (p.His651Asn)
c.4081C>A (p.His1361Asn)
c.4201C>A (p.His1401Asn)
c.3280C>A (p.His1094Asn)
c.3100C>A (p.His1034Asn)
c.2860C>A (p.His954Asn)
c.2479C>A (p.His827Asn)
c.1342C>A (p.His448Asn)
c.4411C>A (p.His1471Asn)
c.4312C>A (p.His1438Asn)
c.4282C>A (p.His1428Asn)
c.4252C>A (p.His1418Asn)
c.4123C>A (p.His1375Asn)
c.4102C>A (p.His1368Asn)
n.4427-1827C>A
dbSNP gnomAD v4
6g.157198878C>GCA366239796ARID1Bc.4291C>G (p.His1431Asp)
c.4360C>G (p.His1454Asp)
c.4579C>G (p.His1527Asp)
c.4330C>G (p.His1444Asp)
c.4042C>G (p.His1348Asp)
c.2608C>G (p.His870Asp)
c.1771C>G (p.His591Asp)
c.1402C>G (p.His468Asp)
n.2913C>G
n.370C>G
c.4450C>G (p.His1484Asp)
n.2447C>G
c.1818C>G
c.1732C>G
n.1116C>G
c.1792C>G (p.His598Asp)
c.1951C>G (p.His651Asp)
c.4081C>G (p.His1361Asp)
c.4201C>G (p.His1401Asp)
c.3280C>G (p.His1094Asp)
c.3100C>G (p.His1034Asp)
c.2860C>G (p.His954Asp)
c.2479C>G (p.His827Asp)
c.1342C>G (p.His448Asp)
c.4411C>G (p.His1471Asp)
c.4312C>G (p.His1438Asp)
c.4282C>G (p.His1428Asp)
c.4252C>G (p.His1418Asp)
c.4123C>G (p.His1375Asp)
c.4102C>G (p.His1368Asp)
n.4427-1827C>G
dbSNP
6g.157198878C>TCA366239797ARID1Bc.4291C>T (p.His1431Tyr)
c.4360C>T (p.His1454Tyr)
c.4579C>T (p.His1527Tyr)
c.4330C>T (p.His1444Tyr)
c.4042C>T (p.His1348Tyr)
c.2608C>T (p.His870Tyr)
c.1771C>T (p.His591Tyr)
c.1402C>T (p.His468Tyr)
n.2913C>T
n.370C>T
c.4450C>T (p.His1484Tyr)
n.2447C>T
c.1818C>T
c.1732C>T
n.1116C>T
c.1792C>T (p.His598Tyr)
c.1951C>T (p.His651Tyr)
c.4081C>T (p.His1361Tyr)
c.4201C>T (p.His1401Tyr)
c.3280C>T (p.His1094Tyr)
c.3100C>T (p.His1034Tyr)
c.2860C>T (p.His954Tyr)
c.2479C>T (p.His827Tyr)
c.1342C>T (p.His448Tyr)
c.4411C>T (p.His1471Tyr)
c.4312C>T (p.His1438Tyr)
c.4282C>T (p.His1428Tyr)
c.4252C>T (p.His1418Tyr)
c.4123C>T (p.His1375Tyr)
c.4102C>T (p.His1368Tyr)
n.4427-1827C>T
dbSNP
6g.157198879A>CCA366239799ARID1Bc.4292A>C (p.His1431Pro)
c.4361A>C (p.His1454Pro)
c.4580A>C (p.His1527Pro)
c.4331A>C (p.His1444Pro)
c.4043A>C (p.His1348Pro)
c.2609A>C (p.His870Pro)
c.1772A>C (p.His591Pro)
c.1403A>C (p.His468Pro)
n.2914A>C
n.371A>C
c.4451A>C (p.His1484Pro)
n.2448A>C
c.1819A>C
c.1733A>C
n.1117A>C
c.1793A>C (p.His598Pro)
c.1952A>C (p.His651Pro)
c.4082A>C (p.His1361Pro)
c.4202A>C (p.His1401Pro)
c.3281A>C (p.His1094Pro)
c.3101A>C (p.His1034Pro)
c.2861A>C (p.His954Pro)
c.2480A>C (p.His827Pro)
c.1343A>C (p.His448Pro)
c.4412A>C (p.His1471Pro)
c.4313A>C (p.His1438Pro)
c.4283A>C (p.His1428Pro)
c.4253A>C (p.His1418Pro)
c.4124A>C (p.His1375Pro)
c.4103A>C (p.His1368Pro)
n.4427-1826A>C
dbSNP gnomAD v4
6g.157198879A>GCA366239801ARID1Bc.4292A>G (p.His1431Arg)
c.4361A>G (p.His1454Arg)
c.4580A>G (p.His1527Arg)
c.4331A>G (p.His1444Arg)
c.4043A>G (p.His1348Arg)
c.2609A>G (p.His870Arg)
c.1772A>G (p.His591Arg)
c.1403A>G (p.His468Arg)
n.2914A>G
n.371A>G
c.4451A>G (p.His1484Arg)
n.2448A>G
c.1819A>G
c.1733A>G
n.1117A>G
c.1793A>G (p.His598Arg)
c.1952A>G (p.His651Arg)
c.4082A>G (p.His1361Arg)
c.4202A>G (p.His1401Arg)
c.3281A>G (p.His1094Arg)
c.3101A>G (p.His1034Arg)
c.2861A>G (p.His954Arg)
c.2480A>G (p.His827Arg)
c.1343A>G (p.His448Arg)
c.4412A>G (p.His1471Arg)
c.4313A>G (p.His1438Arg)
c.4283A>G (p.His1428Arg)
c.4253A>G (p.His1418Arg)
c.4124A>G (p.His1375Arg)
c.4103A>G (p.His1368Arg)
n.4427-1826A>G
6g.157198879A>TCA366239804ARID1Bc.4292A>T (p.His1431Leu)
c.4361A>T (p.His1454Leu)
c.4580A>T (p.His1527Leu)
c.4331A>T (p.His1444Leu)
c.4043A>T (p.His1348Leu)
c.2609A>T (p.His870Leu)
c.1772A>T (p.His591Leu)
c.1403A>T (p.His468Leu)
n.2914A>T
n.371A>T
c.4451A>T (p.His1484Leu)
n.2448A>T
c.1819A>T
c.1733A>T
n.1117A>T
c.1793A>T (p.His598Leu)
c.1952A>T (p.His651Leu)
c.4082A>T (p.His1361Leu)
c.4202A>T (p.His1401Leu)
c.3281A>T (p.His1094Leu)
c.3101A>T (p.His1034Leu)
c.2861A>T (p.His954Leu)
c.2480A>T (p.His827Leu)
c.1343A>T (p.His448Leu)
c.4412A>T (p.His1471Leu)
c.4313A>T (p.His1438Leu)
c.4283A>T (p.His1428Leu)
c.4253A>T (p.His1418Leu)
c.4124A>T (p.His1375Leu)
c.4103A>T (p.His1368Leu)
n.4427-1826A>T
dbSNP
6g.157198880C>ACA366239807ARID1Bc.4293C>A (p.His1431Gln)
c.4362C>A (p.His1454Gln)
c.4581C>A (p.His1527Gln)
c.4332C>A (p.His1444Gln)
c.4044C>A (p.His1348Gln)
c.2610C>A (p.His870Gln)
c.1773C>A (p.His591Gln)
c.1404C>A (p.His468Gln)
n.2915C>A
n.372C>A
c.4452C>A (p.His1484Gln)
n.2449C>A
c.1820C>A
c.1734C>A
n.1118C>A
c.1794C>A (p.His598Gln)
c.1953C>A (p.His651Gln)
c.4083C>A (p.His1361Gln)
c.4203C>A (p.His1401Gln)
c.3282C>A (p.His1094Gln)
c.3102C>A (p.His1034Gln)
c.2862C>A (p.His954Gln)
c.2481C>A (p.His827Gln)
c.1344C>A (p.His448Gln)
c.4413C>A (p.His1471Gln)
c.4314C>A (p.His1438Gln)
c.4284C>A (p.His1428Gln)
c.4254C>A (p.His1418Gln)
c.4125C>A (p.His1375Gln)
c.4104C>A (p.His1368Gln)
n.4427-1825C>A
ClinVar gnomAD v4
6g.157198880C=CA1675542243ARID1Bc.4293C= (p.His1431=)
c.4362C= (p.His1454=)
c.4581C= (p.His1527=)
c.4332C= (p.His1444=)
c.4044C= (p.His1348=)
c.2610C= (p.His870=)
c.1773C= (p.His591=)
c.1404C= (p.His468=)
n.2915C=
n.372C=
c.4452C= (p.His1484=)
n.2449C=
c.1820C=
c.1734C=
n.1118C=
c.1794C= (p.His598=)
c.1953C= (p.His651=)
c.4083C= (p.His1361=)
c.4203C= (p.His1401=)
c.3282C= (p.His1094=)
c.3102C= (p.His1034=)
c.2862C= (p.His954=)
c.2481C= (p.His827=)
c.1344C= (p.His448=)
c.4413C= (p.His1471=)
c.4314C= (p.His1438=)
c.4284C= (p.His1428=)
c.4254C= (p.His1418=)
c.4125C= (p.His1375=)
c.4104C= (p.His1368=)
n.4427-1825C=
6g.157198880C>GCA366239808ARID1Bc.4293C>G (p.His1431Gln)
c.4362C>G (p.His1454Gln)
c.4581C>G (p.His1527Gln)
c.4332C>G (p.His1444Gln)
c.4044C>G (p.His1348Gln)
c.2610C>G (p.His870Gln)
c.1773C>G (p.His591Gln)
c.1404C>G (p.His468Gln)
n.2915C>G
n.372C>G
c.4452C>G (p.His1484Gln)
n.2449C>G
c.1820C>G
c.1734C>G
n.1118C>G
c.1794C>G (p.His598Gln)
c.1953C>G (p.His651Gln)
c.4083C>G (p.His1361Gln)
c.4203C>G (p.His1401Gln)
c.3282C>G (p.His1094Gln)
c.3102C>G (p.His1034Gln)
c.2862C>G (p.His954Gln)
c.2481C>G (p.His827Gln)
c.1344C>G (p.His448Gln)
c.4413C>G (p.His1471Gln)
c.4314C>G (p.His1438Gln)
c.4284C>G (p.His1428Gln)
c.4254C>G (p.His1418Gln)
c.4125C>G (p.His1375Gln)
c.4104C>G (p.His1368Gln)
n.4427-1825C>G
dbSNP gnomAD v4 COSMIC COSMIC
6g.157198880C>TCA4067628ARID1Bc.4293C>T (p.His1431=)
c.4362C>T (p.His1454=)
c.4581C>T (p.His1527=)
c.4332C>T (p.His1444=)
c.4044C>T (p.His1348=)
c.2610C>T (p.His870=)
c.1773C>T (p.His591=)
c.1404C>T (p.His468=)
n.2915C>T
n.372C>T
c.4452C>T (p.His1484=)
n.2449C>T
c.1820C>T
c.1734C>T
n.1118C>T
c.1794C>T (p.His598=)
c.1953C>T (p.His651=)
c.4083C>T (p.His1361=)
c.4203C>T (p.His1401=)
c.3282C>T (p.His1094=)
c.3102C>T (p.His1034=)
c.2862C>T (p.His954=)
c.2481C>T (p.His827=)
c.1344C>T (p.His448=)
c.4413C>T (p.His1471=)
c.4314C>T (p.His1438=)
c.4284C>T (p.His1428=)
c.4254C>T (p.His1418=)
c.4125C>T (p.His1375=)
c.4104C>T (p.His1368=)
n.4427-1825C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.157198881C>ACA366239812ARID1Bc.4294C>A (p.Gln1432Lys)
c.4363C>A (p.Gln1455Lys)
c.4582C>A (p.Gln1528Lys)
c.4333C>A (p.Gln1445Lys)
c.4045C>A (p.Gln1349Lys)
c.2611C>A (p.Gln871Lys)
c.1774C>A (p.Gln592Lys)
c.1405C>A (p.Gln469Lys)
n.2916C>A
n.373C>A
c.4453C>A (p.Gln1485Lys)
n.2450C>A
c.1821C>A
c.1735C>A
n.1119C>A
c.1795C>A (p.Gln599Lys)
c.1954C>A (p.Gln652Lys)
c.4084C>A (p.Gln1362Lys)
c.4204C>A (p.Gln1402Lys)
c.3283C>A (p.Gln1095Lys)
c.3103C>A (p.Gln1035Lys)
c.2863C>A (p.Gln955Lys)
c.2482C>A (p.Gln828Lys)
c.1345C>A (p.Gln449Lys)
c.4414C>A (p.Gln1472Lys)
c.4315C>A (p.Gln1439Lys)
c.4285C>A (p.Gln1429Lys)
c.4255C>A (p.Gln1419Lys)
c.4126C>A (p.Gln1376Lys)
c.4105C>A (p.Gln1369Lys)
n.4427-1824C>A
6g.157198881C>GCA366239809ARID1Bc.4294C>G (p.Gln1432Glu)
c.4363C>G (p.Gln1455Glu)
c.4582C>G (p.Gln1528Glu)
c.4333C>G (p.Gln1445Glu)
c.4045C>G (p.Gln1349Glu)
c.2611C>G (p.Gln871Glu)
c.1774C>G (p.Gln592Glu)
c.1405C>G (p.Gln469Glu)
n.2916C>G
n.373C>G
c.4453C>G (p.Gln1485Glu)
n.2450C>G
c.1821C>G
c.1735C>G
n.1119C>G
c.1795C>G (p.Gln599Glu)
c.1954C>G (p.Gln652Glu)
c.4084C>G (p.Gln1362Glu)
c.4204C>G (p.Gln1402Glu)
c.3283C>G (p.Gln1095Glu)
c.3103C>G (p.Gln1035Glu)
c.2863C>G (p.Gln955Glu)
c.2482C>G (p.Gln828Glu)
c.1345C>G (p.Gln449Glu)
c.4414C>G (p.Gln1472Glu)
c.4315C>G (p.Gln1439Glu)
c.4285C>G (p.Gln1429Glu)
c.4255C>G (p.Gln1419Glu)
c.4126C>G (p.Gln1376Glu)
c.4105C>G (p.Gln1369Glu)
n.4427-1824C>G
6g.157198881C>TCA366239811ARID1Bc.4294C>T (p.Gln1432Ter)
c.4363C>T (p.Gln1455Ter)
c.4582C>T (p.Gln1528Ter)
c.4333C>T (p.Gln1445Ter)
c.4045C>T (p.Gln1349Ter)
c.2611C>T (p.Gln871Ter)
c.1774C>T (p.Gln592Ter)
c.1405C>T (p.Gln469Ter)
n.2916C>T
n.373C>T
c.4453C>T (p.Gln1485Ter)
n.2450C>T
c.1821C>T
c.1735C>T
n.1119C>T
c.1795C>T (p.Gln599Ter)
c.1954C>T (p.Gln652Ter)
c.4084C>T (p.Gln1362Ter)
c.4204C>T (p.Gln1402Ter)
c.3283C>T (p.Gln1095Ter)
c.3103C>T (p.Gln1035Ter)
c.2863C>T (p.Gln955Ter)
c.2482C>T (p.Gln828Ter)
c.1345C>T (p.Gln449Ter)
c.4414C>T (p.Gln1472Ter)
c.4315C>T (p.Gln1439Ter)
c.4285C>T (p.Gln1429Ter)
c.4255C>T (p.Gln1419Ter)
c.4126C>T (p.Gln1376Ter)
c.4105C>T (p.Gln1369Ter)
n.4427-1824C>T
ClinVar dbSNP
6g.157198882A>CCA366239814ARID1Bc.4295A>C (p.Gln1432Pro)
c.4364A>C (p.Gln1455Pro)
c.4583A>C (p.Gln1528Pro)
c.4334A>C (p.Gln1445Pro)
c.4046A>C (p.Gln1349Pro)
c.2612A>C (p.Gln871Pro)
c.1775A>C (p.Gln592Pro)
c.1406A>C (p.Gln469Pro)
n.2917A>C
n.374A>C
c.4454A>C (p.Gln1485Pro)
n.2451A>C
c.1822A>C
c.1736A>C
n.1120A>C
c.1796A>C (p.Gln599Pro)
c.1955A>C (p.Gln652Pro)
c.4085A>C (p.Gln1362Pro)
c.4205A>C (p.Gln1402Pro)
c.3284A>C (p.Gln1095Pro)
c.3104A>C (p.Gln1035Pro)
c.2864A>C (p.Gln955Pro)
c.2483A>C (p.Gln828Pro)
c.1346A>C (p.Gln449Pro)
c.4415A>C (p.Gln1472Pro)
c.4316A>C (p.Gln1439Pro)
c.4286A>C (p.Gln1429Pro)
c.4256A>C (p.Gln1419Pro)
c.4127A>C (p.Gln1376Pro)
c.4106A>C (p.Gln1369Pro)
n.4427-1823A>C
6g.157198882A>GCA366239815ARID1Bc.4295A>G (p.Gln1432Arg)
c.4364A>G (p.Gln1455Arg)
c.4583A>G (p.Gln1528Arg)
c.4334A>G (p.Gln1445Arg)
c.4046A>G (p.Gln1349Arg)
c.2612A>G (p.Gln871Arg)
c.1775A>G (p.Gln592Arg)
c.1406A>G (p.Gln469Arg)
n.2917A>G
n.374A>G
c.4454A>G (p.Gln1485Arg)
n.2451A>G
c.1822A>G
c.1736A>G
n.1120A>G
c.1796A>G (p.Gln599Arg)
c.1955A>G (p.Gln652Arg)
c.4085A>G (p.Gln1362Arg)
c.4205A>G (p.Gln1402Arg)
c.3284A>G (p.Gln1095Arg)
c.3104A>G (p.Gln1035Arg)
c.2864A>G (p.Gln955Arg)
c.2483A>G (p.Gln828Arg)
c.1346A>G (p.Gln449Arg)
c.4415A>G (p.Gln1472Arg)
c.4316A>G (p.Gln1439Arg)
c.4286A>G (p.Gln1429Arg)
c.4256A>G (p.Gln1419Arg)
c.4127A>G (p.Gln1376Arg)
c.4106A>G (p.Gln1369Arg)
n.4427-1823A>G
6g.157198882A>TCA366239817ARID1Bc.4295A>T (p.Gln1432Leu)
c.4364A>T (p.Gln1455Leu)
c.4583A>T (p.Gln1528Leu)
c.4334A>T (p.Gln1445Leu)
c.4046A>T (p.Gln1349Leu)
c.2612A>T (p.Gln871Leu)
c.1775A>T (p.Gln592Leu)
c.1406A>T (p.Gln469Leu)
n.2917A>T
n.374A>T
c.4454A>T (p.Gln1485Leu)
n.2451A>T
c.1822A>T
c.1736A>T
n.1120A>T
c.1796A>T (p.Gln599Leu)
c.1955A>T (p.Gln652Leu)
c.4085A>T (p.Gln1362Leu)
c.4205A>T (p.Gln1402Leu)
c.3284A>T (p.Gln1095Leu)
c.3104A>T (p.Gln1035Leu)
c.2864A>T (p.Gln955Leu)
c.2483A>T (p.Gln828Leu)
c.1346A>T (p.Gln449Leu)
c.4415A>T (p.Gln1472Leu)
c.4316A>T (p.Gln1439Leu)
c.4286A>T (p.Gln1429Leu)
c.4256A>T (p.Gln1419Leu)
c.4127A>T (p.Gln1376Leu)
c.4106A>T (p.Gln1369Leu)
n.4427-1823A>T
dbSNP
6g.157198883G>ACA452783974ARID1Bc.4296G>A (p.Gln1432=)
c.4365G>A (p.Gln1455=)
c.4584G>A (p.Gln1528=)
c.4335G>A (p.Gln1445=)
c.4047G>A (p.Gln1349=)
c.2613G>A (p.Gln871=)
c.1776G>A (p.Gln592=)
c.1407G>A (p.Gln469=)
n.2918G>A
n.375G>A
c.4455G>A (p.Gln1485=)
n.2452G>A
c.1823G>A
c.1737G>A
n.1121G>A
c.1797G>A (p.Gln599=)
c.1956G>A (p.Gln652=)
c.4086G>A (p.Gln1362=)
c.4206G>A (p.Gln1402=)
c.3285G>A (p.Gln1095=)
c.3105G>A (p.Gln1035=)
c.2865G>A (p.Gln955=)
c.2484G>A (p.Gln828=)
c.1347G>A (p.Gln449=)
c.4416G>A (p.Gln1472=)
c.4317G>A (p.Gln1439=)
c.4287G>A (p.Gln1429=)
c.4257G>A (p.Gln1419=)
c.4128G>A (p.Gln1376=)
c.4107G>A (p.Gln1369=)
n.4427-1822G>A
dbSNP gnomAD v4
6g.157198883G>CCA366239820ARID1Bc.4296G>C (p.Gln1432His)
c.4365G>C (p.Gln1455His)
c.4584G>C (p.Gln1528His)
c.4335G>C (p.Gln1445His)
c.4047G>C (p.Gln1349His)
c.2613G>C (p.Gln871His)
c.1776G>C (p.Gln592His)
c.1407G>C (p.Gln469His)
n.2918G>C
n.375G>C
c.4455G>C (p.Gln1485His)
n.2452G>C
c.1823G>C
c.1737G>C
n.1121G>C
c.1797G>C (p.Gln599His)
c.1956G>C (p.Gln652His)
c.4086G>C (p.Gln1362His)
c.4206G>C (p.Gln1402His)
c.3285G>C (p.Gln1095His)
c.3105G>C (p.Gln1035His)
c.2865G>C (p.Gln955His)
c.2484G>C (p.Gln828His)
c.1347G>C (p.Gln449His)
c.4416G>C (p.Gln1472His)
c.4317G>C (p.Gln1439His)
c.4287G>C (p.Gln1429His)
c.4257G>C (p.Gln1419His)
c.4128G>C (p.Gln1376His)
c.4107G>C (p.Gln1369His)
n.4427-1822G>C
dbSNP
6g.157198883G>TCA366239821ARID1Bc.4296G>T (p.Gln1432His)
c.4365G>T (p.Gln1455His)
c.4584G>T (p.Gln1528His)
c.4335G>T (p.Gln1445His)
c.4047G>T (p.Gln1349His)
c.2613G>T (p.Gln871His)
c.1776G>T (p.Gln592His)
c.1407G>T (p.Gln469His)
n.2918G>T
n.375G>T
c.4455G>T (p.Gln1485His)
n.2452G>T
c.1823G>T
c.1737G>T
n.1121G>T
c.1797G>T (p.Gln599His)
c.1956G>T (p.Gln652His)
c.4086G>T (p.Gln1362His)
c.4206G>T (p.Gln1402His)
c.3285G>T (p.Gln1095His)
c.3105G>T (p.Gln1035His)
c.2865G>T (p.Gln955His)
c.2484G>T (p.Gln828His)
c.1347G>T (p.Gln449His)
c.4416G>T (p.Gln1472His)
c.4317G>T (p.Gln1439His)
c.4287G>T (p.Gln1429His)
c.4257G>T (p.Gln1419His)
c.4128G>T (p.Gln1376His)
c.4107G>T (p.Gln1369His)
n.4427-1822G>T
gnomAD v4
6g.157198884C>ACA366239826ARID1Bc.4297C>A (p.Pro1433Thr)
c.4366C>A (p.Pro1456Thr)
c.4585C>A (p.Pro1529Thr)
c.4336C>A (p.Pro1446Thr)
c.4048C>A (p.Pro1350Thr)
c.2614C>A (p.Pro872Thr)
c.1777C>A (p.Pro593Thr)
c.1408C>A (p.Pro470Thr)
n.2919C>A
n.376C>A
c.4456C>A (p.Pro1486Thr)
n.2453C>A
c.1824C>A
c.1738C>A
n.1122C>A
c.1798C>A (p.Pro600Thr)
c.1957C>A (p.Pro653Thr)
c.4087C>A (p.Pro1363Thr)
c.4207C>A (p.Pro1403Thr)
c.3286C>A (p.Pro1096Thr)
c.3106C>A (p.Pro1036Thr)
c.2866C>A (p.Pro956Thr)
c.2485C>A (p.Pro829Thr)
c.1348C>A (p.Pro450Thr)
c.4417C>A (p.Pro1473Thr)
c.4318C>A (p.Pro1440Thr)
c.4288C>A (p.Pro1430Thr)
c.4258C>A (p.Pro1420Thr)
c.4129C>A (p.Pro1377Thr)
c.4108C>A (p.Pro1370Thr)
n.4427-1821C>A
6g.157198884C>GCA366239828ARID1Bc.4297C>G (p.Pro1433Ala)
c.4366C>G (p.Pro1456Ala)
c.4585C>G (p.Pro1529Ala)
c.4336C>G (p.Pro1446Ala)
c.4048C>G (p.Pro1350Ala)
c.2614C>G (p.Pro872Ala)
c.1777C>G (p.Pro593Ala)
c.1408C>G (p.Pro470Ala)
n.2919C>G
n.376C>G
c.4456C>G (p.Pro1486Ala)
n.2453C>G
c.1824C>G
c.1738C>G
n.1122C>G
c.1798C>G (p.Pro600Ala)
c.1957C>G (p.Pro653Ala)
c.4087C>G (p.Pro1363Ala)
c.4207C>G (p.Pro1403Ala)
c.3286C>G (p.Pro1096Ala)
c.3106C>G (p.Pro1036Ala)
c.2866C>G (p.Pro956Ala)
c.2485C>G (p.Pro829Ala)
c.1348C>G (p.Pro450Ala)
c.4417C>G (p.Pro1473Ala)
c.4318C>G (p.Pro1440Ala)
c.4288C>G (p.Pro1430Ala)
c.4258C>G (p.Pro1420Ala)
c.4129C>G (p.Pro1377Ala)
c.4108C>G (p.Pro1370Ala)
n.4427-1821C>G
dbSNP
6g.157198884C>TCA366239829ARID1Bc.4297C>T (p.Pro1433Ser)
c.4366C>T (p.Pro1456Ser)
c.4585C>T (p.Pro1529Ser)
c.4336C>T (p.Pro1446Ser)
c.4048C>T (p.Pro1350Ser)
c.2614C>T (p.Pro872Ser)
c.1777C>T (p.Pro593Ser)
c.1408C>T (p.Pro470Ser)
n.2919C>T
n.376C>T
c.4456C>T (p.Pro1486Ser)
n.2453C>T
c.1824C>T
c.1738C>T
n.1122C>T
c.1798C>T (p.Pro600Ser)
c.1957C>T (p.Pro653Ser)
c.4087C>T (p.Pro1363Ser)
c.4207C>T (p.Pro1403Ser)
c.3286C>T (p.Pro1096Ser)
c.3106C>T (p.Pro1036Ser)
c.2866C>T (p.Pro956Ser)
c.2485C>T (p.Pro829Ser)
c.1348C>T (p.Pro450Ser)
c.4417C>T (p.Pro1473Ser)
c.4318C>T (p.Pro1440Ser)
c.4288C>T (p.Pro1430Ser)
c.4258C>T (p.Pro1420Ser)
c.4129C>T (p.Pro1377Ser)
c.4108C>T (p.Pro1370Ser)
n.4427-1821C>T
dbSNP
6g.157198885C>ACA366239830ARID1Bc.4298C>A (p.Pro1433His)
c.4367C>A (p.Pro1456His)
c.4586C>A (p.Pro1529His)
c.4337C>A (p.Pro1446His)
c.4049C>A (p.Pro1350His)
c.2615C>A (p.Pro872His)
c.1778C>A (p.Pro593His)
c.1409C>A (p.Pro470His)
n.2920C>A
n.377C>A
c.4457C>A (p.Pro1486His)
n.2454C>A
c.1825C>A
c.1739C>A
n.1123C>A
c.1799C>A (p.Pro600His)
c.1958C>A (p.Pro653His)
c.4088C>A (p.Pro1363His)
c.4208C>A (p.Pro1403His)
c.3287C>A (p.Pro1096His)
c.3107C>A (p.Pro1036His)
c.2867C>A (p.Pro956His)
c.2486C>A (p.Pro829His)
c.1349C>A (p.Pro450His)
c.4418C>A (p.Pro1473His)
c.4319C>A (p.Pro1440His)
c.4289C>A (p.Pro1430His)
c.4259C>A (p.Pro1420His)
c.4130C>A (p.Pro1377His)
c.4109C>A (p.Pro1370His)
n.4427-1820C>A
dbSNP gnomAD v4
6g.157198885C>GCA366239832ARID1Bc.4298C>G (p.Pro1433Arg)
c.4367C>G (p.Pro1456Arg)
c.4586C>G (p.Pro1529Arg)
c.4337C>G (p.Pro1446Arg)
c.4049C>G (p.Pro1350Arg)
c.2615C>G (p.Pro872Arg)
c.1778C>G (p.Pro593Arg)
c.1409C>G (p.Pro470Arg)
n.2920C>G
n.377C>G
c.4457C>G (p.Pro1486Arg)
n.2454C>G
c.1825C>G
c.1739C>G
n.1123C>G
c.1799C>G (p.Pro600Arg)
c.1958C>G (p.Pro653Arg)
c.4088C>G (p.Pro1363Arg)
c.4208C>G (p.Pro1403Arg)
c.3287C>G (p.Pro1096Arg)
c.3107C>G (p.Pro1036Arg)
c.2867C>G (p.Pro956Arg)
c.2486C>G (p.Pro829Arg)
c.1349C>G (p.Pro450Arg)
c.4418C>G (p.Pro1473Arg)
c.4319C>G (p.Pro1440Arg)
c.4289C>G (p.Pro1430Arg)
c.4259C>G (p.Pro1420Arg)
c.4130C>G (p.Pro1377Arg)
c.4109C>G (p.Pro1370Arg)
n.4427-1820C>G
dbSNP
6g.157198885C>TCA366239835ARID1Bc.4298C>T (p.Pro1433Leu)
c.4367C>T (p.Pro1456Leu)
c.4586C>T (p.Pro1529Leu)
c.4337C>T (p.Pro1446Leu)
c.4049C>T (p.Pro1350Leu)
c.2615C>T (p.Pro872Leu)
c.1778C>T (p.Pro593Leu)
c.1409C>T (p.Pro470Leu)
n.2920C>T
n.377C>T
c.4457C>T (p.Pro1486Leu)
n.2454C>T
c.1825C>T
c.1739C>T
n.1123C>T
c.1799C>T (p.Pro600Leu)
c.1958C>T (p.Pro653Leu)
c.4088C>T (p.Pro1363Leu)
c.4208C>T (p.Pro1403Leu)
c.3287C>T (p.Pro1096Leu)
c.3107C>T (p.Pro1036Leu)
c.2867C>T (p.Pro956Leu)
c.2486C>T (p.Pro829Leu)
c.1349C>T (p.Pro450Leu)
c.4418C>T (p.Pro1473Leu)
c.4319C>T (p.Pro1440Leu)
c.4289C>T (p.Pro1430Leu)
c.4259C>T (p.Pro1420Leu)
c.4130C>T (p.Pro1377Leu)
c.4109C>T (p.Pro1370Leu)
n.4427-1820C>T
6g.157198886C>ACA452783975ARID1Bc.4299C>A (p.Pro1433=)
c.4368C>A (p.Pro1456=)
c.4587C>A (p.Pro1529=)
c.4338C>A (p.Pro1446=)
c.4050C>A (p.Pro1350=)
c.2616C>A (p.Pro872=)
c.1779C>A (p.Pro593=)
c.1410C>A (p.Pro470=)
n.2921C>A
n.378C>A
c.4458C>A (p.Pro1486=)
n.2455C>A
c.1826C>A
c.1740C>A
n.1124C>A
c.1800C>A (p.Pro600=)
c.1959C>A (p.Pro653=)
c.4089C>A (p.Pro1363=)
c.4209C>A (p.Pro1403=)
c.3288C>A (p.Pro1096=)
c.3108C>A (p.Pro1036=)
c.2868C>A (p.Pro956=)
c.2487C>A (p.Pro829=)
c.1350C>A (p.Pro450=)
c.4419C>A (p.Pro1473=)
c.4320C>A (p.Pro1440=)
c.4290C>A (p.Pro1430=)
c.4260C>A (p.Pro1420=)
c.4131C>A (p.Pro1377=)
c.4110C>A (p.Pro1370=)
n.4427-1819C>A
dbSNP
6g.157198886C=CA1675542244ARID1Bc.4299C= (p.Pro1433=)
c.4368C= (p.Pro1456=)
c.4587C= (p.Pro1529=)
c.4338C= (p.Pro1446=)
c.4050C= (p.Pro1350=)
c.2616C= (p.Pro872=)
c.1779C= (p.Pro593=)
c.1410C= (p.Pro470=)
n.2921C=
n.378C=
c.4458C= (p.Pro1486=)
n.2455C=
c.1826C=
c.1740C=
n.1124C=
c.1800C= (p.Pro600=)
c.1959C= (p.Pro653=)
c.4089C= (p.Pro1363=)
c.4209C= (p.Pro1403=)
c.3288C= (p.Pro1096=)
c.3108C= (p.Pro1036=)
c.2868C= (p.Pro956=)
c.2487C= (p.Pro829=)
c.1350C= (p.Pro450=)
c.4419C= (p.Pro1473=)
c.4320C= (p.Pro1440=)
c.4290C= (p.Pro1430=)
c.4260C= (p.Pro1420=)
c.4131C= (p.Pro1377=)
c.4110C= (p.Pro1370=)
n.4427-1819C=
6g.157198886C>GCA452783976ARID1Bc.4299C>G (p.Pro1433=)
c.4368C>G (p.Pro1456=)
c.4587C>G (p.Pro1529=)
c.4338C>G (p.Pro1446=)
c.4050C>G (p.Pro1350=)
c.2616C>G (p.Pro872=)
c.1779C>G (p.Pro593=)
c.1410C>G (p.Pro470=)
n.2921C>G
n.378C>G
c.4458C>G (p.Pro1486=)
n.2455C>G
c.1826C>G
c.1740C>G
n.1124C>G
c.1800C>G (p.Pro600=)
c.1959C>G (p.Pro653=)
c.4089C>G (p.Pro1363=)
c.4209C>G (p.Pro1403=)
c.3288C>G (p.Pro1096=)
c.3108C>G (p.Pro1036=)
c.2868C>G (p.Pro956=)
c.2487C>G (p.Pro829=)
c.1350C>G (p.Pro450=)
c.4419C>G (p.Pro1473=)
c.4320C>G (p.Pro1440=)
c.4290C>G (p.Pro1430=)
c.4260C>G (p.Pro1420=)
c.4131C>G (p.Pro1377=)
c.4110C>G (p.Pro1370=)
n.4427-1819C>G
dbSNP
6g.157198886C>TCA452783978ARID1Bc.4299C>T (p.Pro1433=)
c.4368C>T (p.Pro1456=)
c.4587C>T (p.Pro1529=)
c.4338C>T (p.Pro1446=)
c.4050C>T (p.Pro1350=)
c.2616C>T (p.Pro872=)
c.1779C>T (p.Pro593=)
c.1410C>T (p.Pro470=)
n.2921C>T
n.378C>T
c.4458C>T (p.Pro1486=)
n.2455C>T
c.1826C>T
c.1740C>T
n.1124C>T
c.1800C>T (p.Pro600=)
c.1959C>T (p.Pro653=)
c.4089C>T (p.Pro1363=)
c.4209C>T (p.Pro1403=)
c.3288C>T (p.Pro1096=)
c.3108C>T (p.Pro1036=)
c.2868C>T (p.Pro956=)
c.2487C>T (p.Pro829=)
c.1350C>T (p.Pro450=)
c.4419C>T (p.Pro1473=)
c.4320C>T (p.Pro1440=)
c.4290C>T (p.Pro1430=)
c.4260C>T (p.Pro1420=)
c.4131C>T (p.Pro1377=)
c.4110C>T (p.Pro1370=)
n.4427-1819C>T
dbSNP gnomAD v4
6g.157198887G>ACA4067629ARID1Bc.4300G>A (p.Gly1434Ser)
c.4369G>A (p.Gly1457Ser)
c.4588G>A (p.Gly1530Ser)
c.4339G>A (p.Gly1447Ser)
c.4051G>A (p.Gly1351Ser)
c.2617G>A (p.Gly873Ser)
c.1780G>A (p.Gly594Ser)
c.1411G>A (p.Gly471Ser)
n.2922G>A
n.379G>A
c.4459G>A (p.Gly1487Ser)
n.2456G>A
c.1827G>A
c.1741G>A
n.1125G>A
c.1801G>A (p.Gly601Ser)
c.1960G>A (p.Gly654Ser)
c.4090G>A (p.Gly1364Ser)
c.4210G>A (p.Gly1404Ser)
c.3289G>A (p.Gly1097Ser)
c.3109G>A (p.Gly1037Ser)
c.2869G>A (p.Gly957Ser)
c.2488G>A (p.Gly830Ser)
c.1351G>A (p.Gly451Ser)
c.4420G>A (p.Gly1474Ser)
c.4321G>A (p.Gly1441Ser)
c.4291G>A (p.Gly1431Ser)
c.4261G>A (p.Gly1421Ser)
c.4132G>A (p.Gly1378Ser)
c.4111G>A (p.Gly1371Ser)
n.4427-1818G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157198887G>CCA366239839ARID1Bc.4300G>C (p.Gly1434Arg)
c.4369G>C (p.Gly1457Arg)
c.4588G>C (p.Gly1530Arg)
c.4339G>C (p.Gly1447Arg)
c.4051G>C (p.Gly1351Arg)
c.2617G>C (p.Gly873Arg)
c.1780G>C (p.Gly594Arg)
c.1411G>C (p.Gly471Arg)
n.2922G>C
n.379G>C
c.4459G>C (p.Gly1487Arg)
n.2456G>C
c.1827G>C
c.1741G>C
n.1125G>C
c.1801G>C (p.Gly601Arg)
c.1960G>C (p.Gly654Arg)
c.4090G>C (p.Gly1364Arg)
c.4210G>C (p.Gly1404Arg)
c.3289G>C (p.Gly1097Arg)
c.3109G>C (p.Gly1037Arg)
c.2869G>C (p.Gly957Arg)
c.2488G>C (p.Gly830Arg)
c.1351G>C (p.Gly451Arg)
c.4420G>C (p.Gly1474Arg)
c.4321G>C (p.Gly1441Arg)
c.4291G>C (p.Gly1431Arg)
c.4261G>C (p.Gly1421Arg)
c.4132G>C (p.Gly1378Arg)
c.4111G>C (p.Gly1371Arg)
n.4427-1818G>C
dbSNP
6g.157198887G=CA1675542245ARID1Bc.4300G= (p.Gly1434=)
c.4369G= (p.Gly1457=)
c.4588G= (p.Gly1530=)
c.4339G= (p.Gly1447=)
c.4051G= (p.Gly1351=)
c.2617G= (p.Gly873=)
c.1780G= (p.Gly594=)
c.1411G= (p.Gly471=)
n.2922G=
n.379G=
c.4459G= (p.Gly1487=)
n.2456G=
c.1827G=
c.1741G=
n.1125G=
c.1801G= (p.Gly601=)
c.1960G= (p.Gly654=)
c.4090G= (p.Gly1364=)
c.4210G= (p.Gly1404=)
c.3289G= (p.Gly1097=)
c.3109G= (p.Gly1037=)
c.2869G= (p.Gly957=)
c.2488G= (p.Gly830=)
c.1351G= (p.Gly451=)
c.4420G= (p.Gly1474=)
c.4321G= (p.Gly1441=)
c.4291G= (p.Gly1431=)
c.4261G= (p.Gly1421=)
c.4132G= (p.Gly1378=)
c.4111G= (p.Gly1371=)
n.4427-1818G=
6g.157198887G>TCA366239838ARID1Bc.4300G>T (p.Gly1434Cys)
c.4369G>T (p.Gly1457Cys)
c.4588G>T (p.Gly1530Cys)
c.4339G>T (p.Gly1447Cys)
c.4051G>T (p.Gly1351Cys)
c.2617G>T (p.Gly873Cys)
c.1780G>T (p.Gly594Cys)
c.1411G>T (p.Gly471Cys)
n.2922G>T
n.379G>T
c.4459G>T (p.Gly1487Cys)
n.2456G>T
c.1827G>T
c.1741G>T
n.1125G>T
c.1801G>T (p.Gly601Cys)
c.1960G>T (p.Gly654Cys)
c.4090G>T (p.Gly1364Cys)
c.4210G>T (p.Gly1404Cys)
c.3289G>T (p.Gly1097Cys)
c.3109G>T (p.Gly1037Cys)
c.2869G>T (p.Gly957Cys)
c.2488G>T (p.Gly830Cys)
c.1351G>T (p.Gly451Cys)
c.4420G>T (p.Gly1474Cys)
c.4321G>T (p.Gly1441Cys)
c.4291G>T (p.Gly1431Cys)
c.4261G>T (p.Gly1421Cys)
c.4132G>T (p.Gly1378Cys)
c.4111G>T (p.Gly1371Cys)
n.4427-1818G>T
dbSNP gnomAD v4
6g.157198888G>ACA366239840ARID1Bc.4301G>A (p.Gly1434Asp)
c.4370G>A (p.Gly1457Asp)
c.4589G>A (p.Gly1530Asp)
c.4340G>A (p.Gly1447Asp)
c.4052G>A (p.Gly1351Asp)
c.2618G>A (p.Gly873Asp)
c.1781G>A (p.Gly594Asp)
c.1412G>A (p.Gly471Asp)
n.2923G>A
n.380G>A
c.4460G>A (p.Gly1487Asp)
n.2457G>A
c.1828G>A
c.1742G>A
n.1126G>A
c.1802G>A (p.Gly601Asp)
c.1961G>A (p.Gly654Asp)
c.4091G>A (p.Gly1364Asp)
c.4211G>A (p.Gly1404Asp)
c.3290G>A (p.Gly1097Asp)
c.3110G>A (p.Gly1037Asp)
c.2870G>A (p.Gly957Asp)
c.2489G>A (p.Gly830Asp)
c.1352G>A (p.Gly451Asp)
c.4421G>A (p.Gly1474Asp)
c.4322G>A (p.Gly1441Asp)
c.4292G>A (p.Gly1431Asp)
c.4262G>A (p.Gly1421Asp)
c.4133G>A (p.Gly1378Asp)
c.4112G>A (p.Gly1371Asp)
n.4427-1817G>A
dbSNP gnomAD v4
6g.157198888G>CCA366239842ARID1Bc.4301G>C (p.Gly1434Ala)
c.4370G>C (p.Gly1457Ala)
c.4589G>C (p.Gly1530Ala)
c.4340G>C (p.Gly1447Ala)
c.4052G>C (p.Gly1351Ala)
c.2618G>C (p.Gly873Ala)
c.1781G>C (p.Gly594Ala)
c.1412G>C (p.Gly471Ala)
n.2923G>C
n.380G>C
c.4460G>C (p.Gly1487Ala)
n.2457G>C
c.1828G>C
c.1742G>C
n.1126G>C
c.1802G>C (p.Gly601Ala)
c.1961G>C (p.Gly654Ala)
c.4091G>C (p.Gly1364Ala)
c.4211G>C (p.Gly1404Ala)
c.3290G>C (p.Gly1097Ala)
c.3110G>C (p.Gly1037Ala)
c.2870G>C (p.Gly957Ala)
c.2489G>C (p.Gly830Ala)
c.1352G>C (p.Gly451Ala)
c.4421G>C (p.Gly1474Ala)
c.4322G>C (p.Gly1441Ala)
c.4292G>C (p.Gly1431Ala)
c.4262G>C (p.Gly1421Ala)
c.4133G>C (p.Gly1378Ala)
c.4112G>C (p.Gly1371Ala)
n.4427-1817G>C
dbSNP
6g.157198888G>TCA366239843ARID1Bc.4301G>T (p.Gly1434Val)
c.4370G>T (p.Gly1457Val)
c.4589G>T (p.Gly1530Val)
c.4340G>T (p.Gly1447Val)
c.4052G>T (p.Gly1351Val)
c.2618G>T (p.Gly873Val)
c.1781G>T (p.Gly594Val)
c.1412G>T (p.Gly471Val)
n.2923G>T
n.380G>T
c.4460G>T (p.Gly1487Val)
n.2457G>T
c.1828G>T
c.1742G>T
n.1126G>T
c.1802G>T (p.Gly601Val)
c.1961G>T (p.Gly654Val)
c.4091G>T (p.Gly1364Val)
c.4211G>T (p.Gly1404Val)
c.3290G>T (p.Gly1097Val)
c.3110G>T (p.Gly1037Val)
c.2870G>T (p.Gly957Val)
c.2489G>T (p.Gly830Val)
c.1352G>T (p.Gly451Val)
c.4421G>T (p.Gly1474Val)
c.4322G>T (p.Gly1441Val)
c.4292G>T (p.Gly1431Val)
c.4262G>T (p.Gly1421Val)
c.4133G>T (p.Gly1378Val)
c.4112G>T (p.Gly1371Val)
n.4427-1817G>T
dbSNP gnomAD v4
6g.157198889C>ACA452783981ARID1Bc.4302C>A (p.Gly1434=)
c.4371C>A (p.Gly1457=)
c.4590C>A (p.Gly1530=)
c.4341C>A (p.Gly1447=)
c.4053C>A (p.Gly1351=)
c.2619C>A (p.Gly873=)
c.1782C>A (p.Gly594=)
c.1413C>A (p.Gly471=)
n.2924C>A
n.381C>A
c.4461C>A (p.Gly1487=)
n.2458C>A
c.1829C>A
c.1743C>A
n.1127C>A
c.1803C>A (p.Gly601=)
c.1962C>A (p.Gly654=)
c.4092C>A (p.Gly1364=)
c.4212C>A (p.Gly1404=)
c.3291C>A (p.Gly1097=)
c.3111C>A (p.Gly1037=)
c.2871C>A (p.Gly957=)
c.2490C>A (p.Gly830=)
c.1353C>A (p.Gly451=)
c.4422C>A (p.Gly1474=)
c.4323C>A (p.Gly1441=)
c.4293C>A (p.Gly1431=)
c.4263C>A (p.Gly1421=)
c.4134C>A (p.Gly1378=)
c.4113C>A (p.Gly1371=)
n.4427-1816C>A
6g.157198889C=CA1675542246ARID1Bc.4302C= (p.Gly1434=)
c.4371C= (p.Gly1457=)
c.4590C= (p.Gly1530=)
c.4341C= (p.Gly1447=)
c.4053C= (p.Gly1351=)
c.2619C= (p.Gly873=)
c.1782C= (p.Gly594=)
c.1413C= (p.Gly471=)
n.2924C=
n.381C=
c.4461C= (p.Gly1487=)
n.2458C=
c.1829C=
c.1743C=
n.1127C=
c.1803C= (p.Gly601=)
c.1962C= (p.Gly654=)
c.4092C= (p.Gly1364=)
c.4212C= (p.Gly1404=)
c.3291C= (p.Gly1097=)
c.3111C= (p.Gly1037=)
c.2871C= (p.Gly957=)
c.2490C= (p.Gly830=)
c.1353C= (p.Gly451=)
c.4422C= (p.Gly1474=)
c.4323C= (p.Gly1441=)
c.4293C= (p.Gly1431=)
c.4263C= (p.Gly1421=)
c.4134C= (p.Gly1378=)
c.4113C= (p.Gly1371=)
n.4427-1816C=
6g.157198889C>GCA452783982ARID1Bc.4302C>G (p.Gly1434=)
c.4371C>G (p.Gly1457=)
c.4590C>G (p.Gly1530=)
c.4341C>G (p.Gly1447=)
c.4053C>G (p.Gly1351=)
c.2619C>G (p.Gly873=)
c.1782C>G (p.Gly594=)
c.1413C>G (p.Gly471=)
n.2924C>G
n.381C>G
c.4461C>G (p.Gly1487=)
n.2458C>G
c.1829C>G
c.1743C>G
n.1127C>G
c.1803C>G (p.Gly601=)
c.1962C>G (p.Gly654=)
c.4092C>G (p.Gly1364=)
c.4212C>G (p.Gly1404=)
c.3291C>G (p.Gly1097=)
c.3111C>G (p.Gly1037=)
c.2871C>G (p.Gly957=)
c.2490C>G (p.Gly830=)
c.1353C>G (p.Gly451=)
c.4422C>G (p.Gly1474=)
c.4323C>G (p.Gly1441=)
c.4293C>G (p.Gly1431=)
c.4263C>G (p.Gly1421=)
c.4134C>G (p.Gly1378=)
c.4113C>G (p.Gly1371=)
n.4427-1816C>G
dbSNP
6g.157198889C>TCA452783983ARID1Bc.4302C>T (p.Gly1434=)
c.4371C>T (p.Gly1457=)
c.4590C>T (p.Gly1530=)
c.4341C>T (p.Gly1447=)
c.4053C>T (p.Gly1351=)
c.2619C>T (p.Gly873=)
c.1782C>T (p.Gly594=)
c.1413C>T (p.Gly471=)
n.2924C>T
n.381C>T
c.4461C>T (p.Gly1487=)
n.2458C>T
c.1829C>T
c.1743C>T
n.1127C>T
c.1803C>T (p.Gly601=)
c.1962C>T (p.Gly654=)
c.4092C>T (p.Gly1364=)
c.4212C>T (p.Gly1404=)
c.3291C>T (p.Gly1097=)
c.3111C>T (p.Gly1037=)
c.2871C>T (p.Gly957=)
c.2490C>T (p.Gly830=)
c.1353C>T (p.Gly451=)
c.4422C>T (p.Gly1474=)
c.4323C>T (p.Gly1441=)
c.4293C>T (p.Gly1431=)
c.4263C>T (p.Gly1421=)
c.4134C>T (p.Gly1378=)
c.4113C>T (p.Gly1371=)
n.4427-1816C>T
dbSNP gnomAD v3 gnomAD v4
6g.157198890C>ACA366239846ARID1Bc.4303C>A (p.Leu1435Met)
c.4372C>A (p.Leu1458Met)
c.4591C>A (p.Leu1531Met)
c.4342C>A (p.Leu1448Met)
c.4054C>A (p.Leu1352Met)
c.2620C>A (p.Leu874Met)
c.1783C>A (p.Leu595Met)
c.1414C>A (p.Leu472Met)
n.2925C>A
n.382C>A
c.4462C>A (p.Leu1488Met)
n.2459C>A
c.1830C>A
c.1744C>A
n.1128C>A
c.1804C>A (p.Leu602Met)
c.1963C>A (p.Leu655Met)
c.4093C>A (p.Leu1365Met)
c.4213C>A (p.Leu1405Met)
c.3292C>A (p.Leu1098Met)
c.3112C>A (p.Leu1038Met)
c.2872C>A (p.Leu958Met)
c.2491C>A (p.Leu831Met)
c.1354C>A (p.Leu452Met)
c.4423C>A (p.Leu1475Met)
c.4324C>A (p.Leu1442Met)
c.4294C>A (p.Leu1432Met)
c.4264C>A (p.Leu1422Met)
c.4135C>A (p.Leu1379Met)
c.4114C>A (p.Leu1372Met)
n.4427-1815C>A
dbSNP gnomAD v4
6g.157198890C>GCA366239847ARID1Bc.4303C>G (p.Leu1435Val)
c.4372C>G (p.Leu1458Val)
c.4591C>G (p.Leu1531Val)
c.4342C>G (p.Leu1448Val)
c.4054C>G (p.Leu1352Val)
c.2620C>G (p.Leu874Val)
c.1783C>G (p.Leu595Val)
c.1414C>G (p.Leu472Val)
n.2925C>G
n.382C>G
c.4462C>G (p.Leu1488Val)
n.2459C>G
c.1830C>G
c.1744C>G
n.1128C>G
c.1804C>G (p.Leu602Val)
c.1963C>G (p.Leu655Val)
c.4093C>G (p.Leu1365Val)
c.4213C>G (p.Leu1405Val)
c.3292C>G (p.Leu1098Val)
c.3112C>G (p.Leu1038Val)
c.2872C>G (p.Leu958Val)
c.2491C>G (p.Leu831Val)
c.1354C>G (p.Leu452Val)
c.4423C>G (p.Leu1475Val)
c.4324C>G (p.Leu1442Val)
c.4294C>G (p.Leu1432Val)
c.4264C>G (p.Leu1422Val)
c.4135C>G (p.Leu1379Val)
c.4114C>G (p.Leu1372Val)
n.4427-1815C>G
dbSNP
6g.157198890C>TCA452783984ARID1Bc.4303C>T (p.Leu1435=)
c.4372C>T (p.Leu1458=)
c.4591C>T (p.Leu1531=)
c.4342C>T (p.Leu1448=)
c.4054C>T (p.Leu1352=)
c.2620C>T (p.Leu874=)
c.1783C>T (p.Leu595=)
c.1414C>T (p.Leu472=)
n.2925C>T
n.382C>T
c.4462C>T (p.Leu1488=)
n.2459C>T
c.1830C>T
c.1744C>T
n.1128C>T
c.1804C>T (p.Leu602=)
c.1963C>T (p.Leu655=)
c.4093C>T (p.Leu1365=)
c.4213C>T (p.Leu1405=)
c.3292C>T (p.Leu1098=)
c.3112C>T (p.Leu1038=)
c.2872C>T (p.Leu958=)
c.2491C>T (p.Leu831=)
c.1354C>T (p.Leu452=)
c.4423C>T (p.Leu1475=)
c.4324C>T (p.Leu1442=)
c.4294C>T (p.Leu1432=)
c.4264C>T (p.Leu1422=)
c.4135C>T (p.Leu1379=)
c.4114C>T (p.Leu1372=)
n.4427-1815C>T
dbSNP
6g.157198891T>ACA366239848ARID1Bc.4304T>A (p.Leu1435Gln)
c.4373T>A (p.Leu1458Gln)
c.4592T>A (p.Leu1531Gln)
c.4343T>A (p.Leu1448Gln)
c.4055T>A (p.Leu1352Gln)
c.2621T>A (p.Leu874Gln)
c.1784T>A (p.Leu595Gln)
c.1415T>A (p.Leu472Gln)
n.2926T>A
n.383T>A
c.4463T>A (p.Leu1488Gln)
n.2460T>A
c.1831T>A
c.1745T>A
n.1129T>A
c.1805T>A (p.Leu602Gln)
c.1964T>A (p.Leu655Gln)
c.4094T>A (p.Leu1365Gln)
c.4214T>A (p.Leu1405Gln)
c.3293T>A (p.Leu1098Gln)
c.3113T>A (p.Leu1038Gln)
c.2873T>A (p.Leu958Gln)
c.2492T>A (p.Leu831Gln)
c.1355T>A (p.Leu452Gln)
c.4424T>A (p.Leu1475Gln)
c.4325T>A (p.Leu1442Gln)
c.4295T>A (p.Leu1432Gln)
c.4265T>A (p.Leu1422Gln)
c.4136T>A (p.Leu1379Gln)
c.4115T>A (p.Leu1372Gln)
n.4427-1814T>A
dbSNP
6g.157198891T>CCA366239849ARID1Bc.4304T>C (p.Leu1435Pro)
c.4373T>C (p.Leu1458Pro)
c.4592T>C (p.Leu1531Pro)
c.4343T>C (p.Leu1448Pro)
c.4055T>C (p.Leu1352Pro)
c.2621T>C (p.Leu874Pro)
c.1784T>C (p.Leu595Pro)
c.1415T>C (p.Leu472Pro)
n.2926T>C
n.383T>C
c.4463T>C (p.Leu1488Pro)
n.2460T>C
c.1831T>C
c.1745T>C
n.1129T>C
c.1805T>C (p.Leu602Pro)
c.1964T>C (p.Leu655Pro)
c.4094T>C (p.Leu1365Pro)
c.4214T>C (p.Leu1405Pro)
c.3293T>C (p.Leu1098Pro)
c.3113T>C (p.Leu1038Pro)
c.2873T>C (p.Leu958Pro)
c.2492T>C (p.Leu831Pro)
c.1355T>C (p.Leu452Pro)
c.4424T>C (p.Leu1475Pro)
c.4325T>C (p.Leu1442Pro)
c.4295T>C (p.Leu1432Pro)
c.4265T>C (p.Leu1422Pro)
c.4136T>C (p.Leu1379Pro)
c.4115T>C (p.Leu1372Pro)
n.4427-1814T>C
ClinVar dbSNP gnomAD v4
6g.157198891T>GCA366239850ARID1Bc.4304T>G (p.Leu1435Arg)
c.4373T>G (p.Leu1458Arg)
c.4592T>G (p.Leu1531Arg)
c.4343T>G (p.Leu1448Arg)
c.4055T>G (p.Leu1352Arg)
c.2621T>G (p.Leu874Arg)
c.1784T>G (p.Leu595Arg)
c.1415T>G (p.Leu472Arg)
n.2926T>G
n.383T>G
c.4463T>G (p.Leu1488Arg)
n.2460T>G
c.1831T>G
c.1745T>G
n.1129T>G
c.1805T>G (p.Leu602Arg)
c.1964T>G (p.Leu655Arg)
c.4094T>G (p.Leu1365Arg)
c.4214T>G (p.Leu1405Arg)
c.3293T>G (p.Leu1098Arg)
c.3113T>G (p.Leu1038Arg)
c.2873T>G (p.Leu958Arg)
c.2492T>G (p.Leu831Arg)
c.1355T>G (p.Leu452Arg)
c.4424T>G (p.Leu1475Arg)
c.4325T>G (p.Leu1442Arg)
c.4295T>G (p.Leu1432Arg)
c.4265T>G (p.Leu1422Arg)
c.4136T>G (p.Leu1379Arg)
c.4115T>G (p.Leu1372Arg)
n.4427-1814T>G
6g.157198891T=CA1675542247ARID1Bc.4304T= (p.Leu1435=)
c.4373T= (p.Leu1458=)
c.4592T= (p.Leu1531=)
c.4343T= (p.Leu1448=)
c.4055T= (p.Leu1352=)
c.2621T= (p.Leu874=)
c.1784T= (p.Leu595=)
c.1415T= (p.Leu472=)
n.2926T=
n.383T=
c.4463T= (p.Leu1488=)
n.2460T=
c.1831T=
c.1745T=
n.1129T=
c.1805T= (p.Leu602=)
c.1964T= (p.Leu655=)
c.4094T= (p.Leu1365=)
c.4214T= (p.Leu1405=)
c.3293T= (p.Leu1098=)
c.3113T= (p.Leu1038=)
c.2873T= (p.Leu958=)
c.2492T= (p.Leu831=)
c.1355T= (p.Leu452=)
c.4424T= (p.Leu1475=)
c.4325T= (p.Leu1442=)
c.4295T= (p.Leu1432=)
c.4265T= (p.Leu1422=)
c.4136T= (p.Leu1379=)
c.4115T= (p.Leu1372=)
n.4427-1814T=
6g.157198892G>ACA452783986ARID1Bc.4305G>A (p.Leu1435=)
c.4374G>A (p.Leu1458=)
c.4593G>A (p.Leu1531=)
c.4344G>A (p.Leu1448=)
c.4056G>A (p.Leu1352=)
c.2622G>A (p.Leu874=)
c.1785G>A (p.Leu595=)
c.1416G>A (p.Leu472=)
n.2927G>A
n.384G>A
c.4464G>A (p.Leu1488=)
n.2461G>A
c.1832G>A
c.1746G>A
n.1130G>A
c.1806G>A (p.Leu602=)
c.1965G>A (p.Leu655=)
c.4095G>A (p.Leu1365=)
c.4215G>A (p.Leu1405=)
c.3294G>A (p.Leu1098=)
c.3114G>A (p.Leu1038=)
c.2874G>A (p.Leu958=)
c.2493G>A (p.Leu831=)
c.1356G>A (p.Leu452=)
c.4425G>A (p.Leu1475=)
c.4326G>A (p.Leu1442=)
c.4296G>A (p.Leu1432=)
c.4266G>A (p.Leu1422=)
c.4137G>A (p.Leu1379=)
c.4116G>A (p.Leu1372=)
n.4427-1813G>A
dbSNP
6g.157198892G>CCA452783987ARID1Bc.4305G>C (p.Leu1435=)
c.4374G>C (p.Leu1458=)
c.4593G>C (p.Leu1531=)
c.4344G>C (p.Leu1448=)
c.4056G>C (p.Leu1352=)
c.2622G>C (p.Leu874=)
c.1785G>C (p.Leu595=)
c.1416G>C (p.Leu472=)
n.2927G>C
n.384G>C
c.4464G>C (p.Leu1488=)
n.2461G>C
c.1832G>C
c.1746G>C
n.1130G>C
c.1806G>C (p.Leu602=)
c.1965G>C (p.Leu655=)
c.4095G>C (p.Leu1365=)
c.4215G>C (p.Leu1405=)
c.3294G>C (p.Leu1098=)
c.3114G>C (p.Leu1038=)
c.2874G>C (p.Leu958=)
c.2493G>C (p.Leu831=)
c.1356G>C (p.Leu452=)
c.4425G>C (p.Leu1475=)
c.4326G>C (p.Leu1442=)
c.4296G>C (p.Leu1432=)
c.4266G>C (p.Leu1422=)
c.4137G>C (p.Leu1379=)
c.4116G>C (p.Leu1372=)
n.4427-1813G>C
dbSNP
6g.157198892G>TCA452783988ARID1Bc.4305G>T (p.Leu1435=)
c.4374G>T (p.Leu1458=)
c.4593G>T (p.Leu1531=)
c.4344G>T (p.Leu1448=)
c.4056G>T (p.Leu1352=)
c.2622G>T (p.Leu874=)
c.1785G>T (p.Leu595=)
c.1416G>T (p.Leu472=)
n.2927G>T
n.384G>T
c.4464G>T (p.Leu1488=)
n.2461G>T
c.1832G>T
c.1746G>T
n.1130G>T
c.1806G>T (p.Leu602=)
c.1965G>T (p.Leu655=)
c.4095G>T (p.Leu1365=)
c.4215G>T (p.Leu1405=)
c.3294G>T (p.Leu1098=)
c.3114G>T (p.Leu1038=)
c.2874G>T (p.Leu958=)
c.2493G>T (p.Leu831=)
c.1356G>T (p.Leu452=)
c.4425G>T (p.Leu1475=)
c.4326G>T (p.Leu1442=)
c.4296G>T (p.Leu1432=)
c.4266G>T (p.Leu1422=)
c.4137G>T (p.Leu1379=)
c.4116G>T (p.Leu1372=)
n.4427-1813G>T
6g.157198893T>ACA366239852ARID1Bc.4306T>A (p.Tyr1436Asn)
c.4375T>A (p.Tyr1459Asn)
c.4594T>A (p.Tyr1532Asn)
c.4345T>A (p.Tyr1449Asn)
c.4057T>A (p.Tyr1353Asn)
c.2623T>A (p.Tyr875Asn)
c.1786T>A (p.Tyr596Asn)
c.1417T>A (p.Tyr473Asn)
n.2928T>A
n.385T>A
c.4465T>A (p.Tyr1489Asn)
n.2462T>A
c.1833T>A
c.1747T>A
n.1131T>A
c.1807T>A (p.Tyr603Asn)
c.1966T>A (p.Tyr656Asn)
c.4096T>A (p.Tyr1366Asn)
c.4216T>A (p.Tyr1406Asn)
c.3295T>A (p.Tyr1099Asn)
c.3115T>A (p.Tyr1039Asn)
c.2875T>A (p.Tyr959Asn)
c.2494T>A (p.Tyr832Asn)
c.1357T>A (p.Tyr453Asn)
c.4426T>A (p.Tyr1476Asn)
c.4327T>A (p.Tyr1443Asn)
c.4297T>A (p.Tyr1433Asn)
c.4267T>A (p.Tyr1423Asn)
c.4138T>A (p.Tyr1380Asn)
c.4117T>A (p.Tyr1373Asn)
n.4427-1812T>A
dbSNP
6g.157198893T>CCA366239857ARID1Bc.4306T>C (p.Tyr1436His)
c.4375T>C (p.Tyr1459His)
c.4594T>C (p.Tyr1532His)
c.4345T>C (p.Tyr1449His)
c.4057T>C (p.Tyr1353His)
c.2623T>C (p.Tyr875His)
c.1786T>C (p.Tyr596His)
c.1417T>C (p.Tyr473His)
n.2928T>C
n.385T>C
c.4465T>C (p.Tyr1489His)
n.2462T>C
c.1833T>C
c.1747T>C
n.1131T>C
c.1807T>C (p.Tyr603His)
c.1966T>C (p.Tyr656His)
c.4096T>C (p.Tyr1366His)
c.4216T>C (p.Tyr1406His)
c.3295T>C (p.Tyr1099His)
c.3115T>C (p.Tyr1039His)
c.2875T>C (p.Tyr959His)
c.2494T>C (p.Tyr832His)
c.1357T>C (p.Tyr453His)
c.4426T>C (p.Tyr1476His)
c.4327T>C (p.Tyr1443His)
c.4297T>C (p.Tyr1433His)
c.4267T>C (p.Tyr1423His)
c.4138T>C (p.Tyr1380His)
c.4117T>C (p.Tyr1373His)
n.4427-1812T>C
6g.157198893T>GCA366239859ARID1Bc.4306T>G (p.Tyr1436Asp)
c.4375T>G (p.Tyr1459Asp)
c.4594T>G (p.Tyr1532Asp)
c.4345T>G (p.Tyr1449Asp)
c.4057T>G (p.Tyr1353Asp)
c.2623T>G (p.Tyr875Asp)
c.1786T>G (p.Tyr596Asp)
c.1417T>G (p.Tyr473Asp)
n.2928T>G
n.385T>G
c.4465T>G (p.Tyr1489Asp)
n.2462T>G
c.1833T>G
c.1747T>G
n.1131T>G
c.1807T>G (p.Tyr603Asp)
c.1966T>G (p.Tyr656Asp)
c.4096T>G (p.Tyr1366Asp)
c.4216T>G (p.Tyr1406Asp)
c.3295T>G (p.Tyr1099Asp)
c.3115T>G (p.Tyr1039Asp)
c.2875T>G (p.Tyr959Asp)
c.2494T>G (p.Tyr832Asp)
c.1357T>G (p.Tyr453Asp)
c.4426T>G (p.Tyr1476Asp)
c.4327T>G (p.Tyr1443Asp)
c.4297T>G (p.Tyr1433Asp)
c.4267T>G (p.Tyr1423Asp)
c.4138T>G (p.Tyr1380Asp)
c.4117T>G (p.Tyr1373Asp)
n.4427-1812T>G
dbSNP
6g.157198894A>CCA366239863ARID1Bc.4307A>C (p.Tyr1436Ser)
c.4376A>C (p.Tyr1459Ser)
c.4595A>C (p.Tyr1532Ser)
c.4346A>C (p.Tyr1449Ser)
c.4058A>C (p.Tyr1353Ser)
c.2624A>C (p.Tyr875Ser)
c.1787A>C (p.Tyr596Ser)
c.1418A>C (p.Tyr473Ser)
n.2929A>C
n.386A>C
c.4466A>C (p.Tyr1489Ser)
n.2463A>C
c.1834A>C
c.1748A>C
n.1132A>C
c.1808A>C (p.Tyr603Ser)
c.1967A>C (p.Tyr656Ser)
c.4097A>C (p.Tyr1366Ser)
c.4217A>C (p.Tyr1406Ser)
c.3296A>C (p.Tyr1099Ser)
c.3116A>C (p.Tyr1039Ser)
c.2876A>C (p.Tyr959Ser)
c.2495A>C (p.Tyr832Ser)
c.1358A>C (p.Tyr453Ser)
c.4427A>C (p.Tyr1476Ser)
c.4328A>C (p.Tyr1443Ser)
c.4298A>C (p.Tyr1433Ser)
c.4268A>C (p.Tyr1423Ser)
c.4139A>C (p.Tyr1380Ser)
c.4118A>C (p.Tyr1373Ser)
n.4427-1811A>C
6g.157198894A>GCA366239864ARID1Bc.4307A>G (p.Tyr1436Cys)
c.4376A>G (p.Tyr1459Cys)
c.4595A>G (p.Tyr1532Cys)
c.4346A>G (p.Tyr1449Cys)
c.4058A>G (p.Tyr1353Cys)
c.2624A>G (p.Tyr875Cys)
c.1787A>G (p.Tyr596Cys)
c.1418A>G (p.Tyr473Cys)
n.2929A>G
n.386A>G
c.4466A>G (p.Tyr1489Cys)
n.2463A>G
c.1834A>G
c.1748A>G
n.1132A>G
c.1808A>G (p.Tyr603Cys)
c.1967A>G (p.Tyr656Cys)
c.4097A>G (p.Tyr1366Cys)
c.4217A>G (p.Tyr1406Cys)
c.3296A>G (p.Tyr1099Cys)
c.3116A>G (p.Tyr1039Cys)
c.2876A>G (p.Tyr959Cys)
c.2495A>G (p.Tyr832Cys)
c.1358A>G (p.Tyr453Cys)
c.4427A>G (p.Tyr1476Cys)
c.4328A>G (p.Tyr1443Cys)
c.4298A>G (p.Tyr1433Cys)
c.4268A>G (p.Tyr1423Cys)
c.4139A>G (p.Tyr1380Cys)
c.4118A>G (p.Tyr1373Cys)
n.4427-1811A>G
dbSNP
6g.157198894A>TCA366239861ARID1Bc.4307A>T (p.Tyr1436Phe)
c.4376A>T (p.Tyr1459Phe)
c.4595A>T (p.Tyr1532Phe)
c.4346A>T (p.Tyr1449Phe)
c.4058A>T (p.Tyr1353Phe)
c.2624A>T (p.Tyr875Phe)
c.1787A>T (p.Tyr596Phe)
c.1418A>T (p.Tyr473Phe)
n.2929A>T
n.386A>T
c.4466A>T (p.Tyr1489Phe)
n.2463A>T
c.1834A>T
c.1748A>T
n.1132A>T
c.1808A>T (p.Tyr603Phe)
c.1967A>T (p.Tyr656Phe)
c.4097A>T (p.Tyr1366Phe)
c.4217A>T (p.Tyr1406Phe)
c.3296A>T (p.Tyr1099Phe)
c.3116A>T (p.Tyr1039Phe)
c.2876A>T (p.Tyr959Phe)
c.2495A>T (p.Tyr832Phe)
c.1358A>T (p.Tyr453Phe)
c.4427A>T (p.Tyr1476Phe)
c.4328A>T (p.Tyr1443Phe)
c.4298A>T (p.Tyr1433Phe)
c.4268A>T (p.Tyr1423Phe)
c.4139A>T (p.Tyr1380Phe)
c.4118A>T (p.Tyr1373Phe)
n.4427-1811A>T
6g.157198895C>ACA366239865ARID1Bc.4308C>A (p.Tyr1436Ter)
c.4377C>A (p.Tyr1459Ter)
c.4596C>A (p.Tyr1532Ter)
c.4347C>A (p.Tyr1449Ter)
c.4059C>A (p.Tyr1353Ter)
c.2625C>A (p.Tyr875Ter)
c.1788C>A (p.Tyr596Ter)
c.1419C>A (p.Tyr473Ter)
n.2930C>A
n.387C>A
c.4467C>A (p.Tyr1489Ter)
n.2464C>A
c.1835C>A
c.1749C>A
n.1133C>A
c.1809C>A (p.Tyr603Ter)
c.1968C>A (p.Tyr656Ter)
c.4098C>A (p.Tyr1366Ter)
c.4218C>A (p.Tyr1406Ter)
c.3297C>A (p.Tyr1099Ter)
c.3117C>A (p.Tyr1039Ter)
c.2877C>A (p.Tyr959Ter)
c.2496C>A (p.Tyr832Ter)
c.1359C>A (p.Tyr453Ter)
c.4428C>A (p.Tyr1476Ter)
c.4329C>A (p.Tyr1443Ter)
c.4299C>A (p.Tyr1433Ter)
c.4269C>A (p.Tyr1423Ter)
c.4140C>A (p.Tyr1380Ter)
c.4119C>A (p.Tyr1373Ter)
n.4427-1810C>A
6g.157198895C=CA1675542248ARID1Bc.4308C= (p.Tyr1436=)
c.4377C= (p.Tyr1459=)
c.4596C= (p.Tyr1532=)
c.4347C= (p.Tyr1449=)
c.4059C= (p.Tyr1353=)
c.2625C= (p.Tyr875=)
c.1788C= (p.Tyr596=)
c.1419C= (p.Tyr473=)
n.2930C=
n.387C=
c.4467C= (p.Tyr1489=)
n.2464C=
c.1835C=
c.1749C=
n.1133C=
c.1809C= (p.Tyr603=)
c.1968C= (p.Tyr656=)
c.4098C= (p.Tyr1366=)
c.4218C= (p.Tyr1406=)
c.3297C= (p.Tyr1099=)
c.3117C= (p.Tyr1039=)
c.2877C= (p.Tyr959=)
c.2496C= (p.Tyr832=)
c.1359C= (p.Tyr453=)
c.4428C= (p.Tyr1476=)
c.4329C= (p.Tyr1443=)
c.4299C= (p.Tyr1433=)
c.4269C= (p.Tyr1423=)
c.4140C= (p.Tyr1380=)
c.4119C= (p.Tyr1373=)
n.4427-1810C=
6g.157198895C>GCA366239867ARID1Bc.4308C>G (p.Tyr1436Ter)
c.4377C>G (p.Tyr1459Ter)
c.4596C>G (p.Tyr1532Ter)
c.4347C>G (p.Tyr1449Ter)
c.4059C>G (p.Tyr1353Ter)
c.2625C>G (p.Tyr875Ter)
c.1788C>G (p.Tyr596Ter)
c.1419C>G (p.Tyr473Ter)
n.2930C>G
n.387C>G
c.4467C>G (p.Tyr1489Ter)
n.2464C>G
c.1835C>G
c.1749C>G
n.1133C>G
c.1809C>G (p.Tyr603Ter)
c.1968C>G (p.Tyr656Ter)
c.4098C>G (p.Tyr1366Ter)
c.4218C>G (p.Tyr1406Ter)
c.3297C>G (p.Tyr1099Ter)
c.3117C>G (p.Tyr1039Ter)
c.2877C>G (p.Tyr959Ter)
c.2496C>G (p.Tyr832Ter)
c.1359C>G (p.Tyr453Ter)
c.4428C>G (p.Tyr1476Ter)
c.4329C>G (p.Tyr1443Ter)
c.4299C>G (p.Tyr1433Ter)
c.4269C>G (p.Tyr1423Ter)
c.4140C>G (p.Tyr1380Ter)
c.4119C>G (p.Tyr1373Ter)
n.4427-1810C>G
dbSNP
6g.157198895C>TCA452783990ARID1Bc.4308C>T (p.Tyr1436=)
c.4377C>T (p.Tyr1459=)
c.4596C>T (p.Tyr1532=)
c.4347C>T (p.Tyr1449=)
c.4059C>T (p.Tyr1353=)
c.2625C>T (p.Tyr875=)
c.1788C>T (p.Tyr596=)
c.1419C>T (p.Tyr473=)
n.2930C>T
n.387C>T
c.4467C>T (p.Tyr1489=)
n.2464C>T
c.1835C>T
c.1749C>T
n.1133C>T
c.1809C>T (p.Tyr603=)
c.1968C>T (p.Tyr656=)
c.4098C>T (p.Tyr1366=)
c.4218C>T (p.Tyr1406=)
c.3297C>T (p.Tyr1099=)
c.3117C>T (p.Tyr1039=)
c.2877C>T (p.Tyr959=)
c.2496C>T (p.Tyr832=)
c.1359C>T (p.Tyr453=)
c.4428C>T (p.Tyr1476=)
c.4329C>T (p.Tyr1443=)
c.4299C>T (p.Tyr1433=)
c.4269C>T (p.Tyr1423=)
c.4140C>T (p.Tyr1380=)
c.4119C>T (p.Tyr1373=)
n.4427-1810C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.157198897delCA2680895391ARID1Bc.4310del (p.Pro1437HisfsTer?)
c.4379del (p.Pro1460HisfsTer?)
c.4598del (p.Pro1533HisfsTer?)
c.4349del (p.Pro1450HisfsTer?)
c.4061del (p.Pro1354HisfsTer?)
c.2627del (p.Pro876HisfsTer?)
c.1790del (p.Pro597HisfsTer?)
c.1421del (p.Pro474HisfsTer?)
n.2932del
n.389del
c.4469del (p.Pro1490HisfsTer?)
n.2466del
c.1837del
c.1751del
n.1135del
c.1811del (p.Pro604HisfsTer?)
c.1970del (p.Pro657HisfsTer?)
c.4100del (p.Pro1367HisfsTer?)
c.4220del (p.Pro1407HisfsTer?)
c.3299del (p.Pro1100HisfsTer?)
c.3119del (p.Pro1040HisfsTer?)
c.2879del (p.Pro960HisfsTer?)
c.2498del (p.Pro833HisfsTer?)
c.1361del (p.Pro454HisfsTer?)
c.4430del (p.Pro1477HisfsTer?)
c.4331del (p.Pro1444HisfsTer?)
c.4301del (p.Pro1434HisfsTer?)
c.4271del (p.Pro1424HisfsTer?)
c.4142del (p.Pro1381HisfsTer?)
c.4121del (p.Pro1374HisfsTer?)
n.4427-1808del
gnomAD v4
6g.157198896C>ACA366239870ARID1Bc.4309C>A (p.Pro1437Thr)
c.4378C>A (p.Pro1460Thr)
c.4597C>A (p.Pro1533Thr)
c.4348C>A (p.Pro1450Thr)
c.4060C>A (p.Pro1354Thr)
c.2626C>A (p.Pro876Thr)
c.1789C>A (p.Pro597Thr)
c.1420C>A (p.Pro474Thr)
n.2931C>A
n.388C>A
c.4468C>A (p.Pro1490Thr)
n.2465C>A
c.1836C>A
c.1750C>A
n.1134C>A
c.1810C>A (p.Pro604Thr)
c.1969C>A (p.Pro657Thr)
c.4099C>A (p.Pro1367Thr)
c.4219C>A (p.Pro1407Thr)
c.3298C>A (p.Pro1100Thr)
c.3118C>A (p.Pro1040Thr)
c.2878C>A (p.Pro960Thr)
c.2497C>A (p.Pro833Thr)
c.1360C>A (p.Pro454Thr)
c.4429C>A (p.Pro1477Thr)
c.4330C>A (p.Pro1444Thr)
c.4300C>A (p.Pro1434Thr)
c.4270C>A (p.Pro1424Thr)
c.4141C>A (p.Pro1381Thr)
c.4120C>A (p.Pro1374Thr)
n.4427-1809C>A
dbSNP
6g.157198896C>GCA366239873ARID1Bc.4309C>G (p.Pro1437Ala)
c.4378C>G (p.Pro1460Ala)
c.4597C>G (p.Pro1533Ala)
c.4348C>G (p.Pro1450Ala)
c.4060C>G (p.Pro1354Ala)
c.2626C>G (p.Pro876Ala)
c.1789C>G (p.Pro597Ala)
c.1420C>G (p.Pro474Ala)
n.2931C>G
n.388C>G
c.4468C>G (p.Pro1490Ala)
n.2465C>G
c.1836C>G
c.1750C>G
n.1134C>G
c.1810C>G (p.Pro604Ala)
c.1969C>G (p.Pro657Ala)
c.4099C>G (p.Pro1367Ala)
c.4219C>G (p.Pro1407Ala)
c.3298C>G (p.Pro1100Ala)
c.3118C>G (p.Pro1040Ala)
c.2878C>G (p.Pro960Ala)
c.2497C>G (p.Pro833Ala)
c.1360C>G (p.Pro454Ala)
c.4429C>G (p.Pro1477Ala)
c.4330C>G (p.Pro1444Ala)
c.4300C>G (p.Pro1434Ala)
c.4270C>G (p.Pro1424Ala)
c.4141C>G (p.Pro1381Ala)
c.4120C>G (p.Pro1374Ala)
n.4427-1809C>G
dbSNP
6g.157198896C>TCA366239875ARID1Bc.4309C>T (p.Pro1437Ser)
c.4378C>T (p.Pro1460Ser)
c.4597C>T (p.Pro1533Ser)
c.4348C>T (p.Pro1450Ser)
c.4060C>T (p.Pro1354Ser)
c.2626C>T (p.Pro876Ser)
c.1789C>T (p.Pro597Ser)
c.1420C>T (p.Pro474Ser)
n.2931C>T
n.388C>T
c.4468C>T (p.Pro1490Ser)
n.2465C>T
c.1836C>T
c.1750C>T
n.1134C>T
c.1810C>T (p.Pro604Ser)
c.1969C>T (p.Pro657Ser)
c.4099C>T (p.Pro1367Ser)
c.4219C>T (p.Pro1407Ser)
c.3298C>T (p.Pro1100Ser)
c.3118C>T (p.Pro1040Ser)
c.2878C>T (p.Pro960Ser)
c.2497C>T (p.Pro833Ser)
c.1360C>T (p.Pro454Ser)
c.4429C>T (p.Pro1477Ser)
c.4330C>T (p.Pro1444Ser)
c.4300C>T (p.Pro1434Ser)
c.4270C>T (p.Pro1424Ser)
c.4141C>T (p.Pro1381Ser)
c.4120C>T (p.Pro1374Ser)
n.4427-1809C>T
dbSNP gnomAD v4
6g.157198897C>ACA366239876ARID1Bc.4310C>A (p.Pro1437Gln)
c.4379C>A (p.Pro1460Gln)
c.4598C>A (p.Pro1533Gln)
c.4349C>A (p.Pro1450Gln)
c.4061C>A (p.Pro1354Gln)
c.2627C>A (p.Pro876Gln)
c.1790C>A (p.Pro597Gln)
c.1421C>A (p.Pro474Gln)
n.2932C>A
n.389C>A
c.4469C>A (p.Pro1490Gln)
n.2466C>A
c.1837C>A
c.1751C>A
n.1135C>A
c.1811C>A (p.Pro604Gln)
c.1970C>A (p.Pro657Gln)
c.4100C>A (p.Pro1367Gln)
c.4220C>A (p.Pro1407Gln)
c.3299C>A (p.Pro1100Gln)
c.3119C>A (p.Pro1040Gln)
c.2879C>A (p.Pro960Gln)
c.2498C>A (p.Pro833Gln)
c.1361C>A (p.Pro454Gln)
c.4430C>A (p.Pro1477Gln)
c.4331C>A (p.Pro1444Gln)
c.4301C>A (p.Pro1434Gln)
c.4271C>A (p.Pro1424Gln)
c.4142C>A (p.Pro1381Gln)
c.4121C>A (p.Pro1374Gln)
n.4427-1808C>A
6g.157198897C>GCA366239877ARID1Bc.4310C>G (p.Pro1437Arg)
c.4379C>G (p.Pro1460Arg)
c.4598C>G (p.Pro1533Arg)
c.4349C>G (p.Pro1450Arg)
c.4061C>G (p.Pro1354Arg)
c.2627C>G (p.Pro876Arg)
c.1790C>G (p.Pro597Arg)
c.1421C>G (p.Pro474Arg)
n.2932C>G
n.389C>G
c.4469C>G (p.Pro1490Arg)
n.2466C>G
c.1837C>G
c.1751C>G
n.1135C>G
c.1811C>G (p.Pro604Arg)
c.1970C>G (p.Pro657Arg)
c.4100C>G (p.Pro1367Arg)
c.4220C>G (p.Pro1407Arg)
c.3299C>G (p.Pro1100Arg)
c.3119C>G (p.Pro1040Arg)
c.2879C>G (p.Pro960Arg)
c.2498C>G (p.Pro833Arg)
c.1361C>G (p.Pro454Arg)
c.4430C>G (p.Pro1477Arg)
c.4331C>G (p.Pro1444Arg)
c.4301C>G (p.Pro1434Arg)
c.4271C>G (p.Pro1424Arg)
c.4142C>G (p.Pro1381Arg)
c.4121C>G (p.Pro1374Arg)
n.4427-1808C>G
6g.157198897C>TCA366239878ARID1Bc.4310C>T (p.Pro1437Leu)
c.4379C>T (p.Pro1460Leu)
c.4598C>T (p.Pro1533Leu)
c.4349C>T (p.Pro1450Leu)
c.4061C>T (p.Pro1354Leu)
c.2627C>T (p.Pro876Leu)
c.1790C>T (p.Pro597Leu)
c.1421C>T (p.Pro474Leu)
n.2932C>T
n.389C>T
c.4469C>T (p.Pro1490Leu)
n.2466C>T
c.1837C>T
c.1751C>T
n.1135C>T
c.1811C>T (p.Pro604Leu)
c.1970C>T (p.Pro657Leu)
c.4100C>T (p.Pro1367Leu)
c.4220C>T (p.Pro1407Leu)
c.3299C>T (p.Pro1100Leu)
c.3119C>T (p.Pro1040Leu)
c.2879C>T (p.Pro960Leu)
c.2498C>T (p.Pro833Leu)
c.1361C>T (p.Pro454Leu)
c.4430C>T (p.Pro1477Leu)
c.4331C>T (p.Pro1444Leu)
c.4301C>T (p.Pro1434Leu)
c.4271C>T (p.Pro1424Leu)
c.4142C>T (p.Pro1381Leu)
c.4121C>T (p.Pro1374Leu)
n.4427-1808C>T
6g.157198898A>CCA452783992ARID1Bc.4311A>C (p.Pro1437=)
c.4380A>C (p.Pro1460=)
c.4599A>C (p.Pro1533=)
c.4350A>C (p.Pro1450=)
c.4062A>C (p.Pro1354=)
c.2628A>C (p.Pro876=)
c.1791A>C (p.Pro597=)
c.1422A>C (p.Pro474=)
n.2933A>C
n.390A>C
c.4470A>C (p.Pro1490=)
n.2467A>C
c.1838A>C
c.1752A>C
n.1136A>C
c.1812A>C (p.Pro604=)
c.1971A>C (p.Pro657=)
c.4101A>C (p.Pro1367=)
c.4221A>C (p.Pro1407=)
c.3300A>C (p.Pro1100=)
c.3120A>C (p.Pro1040=)
c.2880A>C (p.Pro960=)
c.2499A>C (p.Pro833=)
c.1362A>C (p.Pro454=)
c.4431A>C (p.Pro1477=)
c.4332A>C (p.Pro1444=)
c.4302A>C (p.Pro1434=)
c.4272A>C (p.Pro1424=)
c.4143A>C (p.Pro1381=)
c.4122A>C (p.Pro1374=)
n.4427-1807A>C
dbSNP
6g.157198898A>GCA452783993ARID1Bc.4311A>G (p.Pro1437=)
c.4380A>G (p.Pro1460=)
c.4599A>G (p.Pro1533=)
c.4350A>G (p.Pro1450=)
c.4062A>G (p.Pro1354=)
c.2628A>G (p.Pro876=)
c.1791A>G (p.Pro597=)
c.1422A>G (p.Pro474=)
n.2933A>G
n.390A>G
c.4470A>G (p.Pro1490=)
n.2467A>G
c.1838A>G
c.1752A>G
n.1136A>G
c.1812A>G (p.Pro604=)
c.1971A>G (p.Pro657=)
c.4101A>G (p.Pro1367=)
c.4221A>G (p.Pro1407=)
c.3300A>G (p.Pro1100=)
c.3120A>G (p.Pro1040=)
c.2880A>G (p.Pro960=)
c.2499A>G (p.Pro833=)
c.1362A>G (p.Pro454=)
c.4431A>G (p.Pro1477=)
c.4332A>G (p.Pro1444=)
c.4302A>G (p.Pro1434=)
c.4272A>G (p.Pro1424=)
c.4143A>G (p.Pro1381=)
c.4122A>G (p.Pro1374=)
n.4427-1807A>G
6g.157198898A>TCA452783994ARID1Bc.4311A>T (p.Pro1437=)
c.4380A>T (p.Pro1460=)
c.4599A>T (p.Pro1533=)
c.4350A>T (p.Pro1450=)
c.4062A>T (p.Pro1354=)
c.2628A>T (p.Pro876=)
c.1791A>T (p.Pro597=)
c.1422A>T (p.Pro474=)
n.2933A>T
n.390A>T
c.4470A>T (p.Pro1490=)
n.2467A>T
c.1838A>T
c.1752A>T
n.1136A>T
c.1812A>T (p.Pro604=)
c.1971A>T (p.Pro657=)
c.4101A>T (p.Pro1367=)
c.4221A>T (p.Pro1407=)
c.3300A>T (p.Pro1100=)
c.3120A>T (p.Pro1040=)
c.2880A>T (p.Pro960=)
c.2499A>T (p.Pro833=)
c.1362A>T (p.Pro454=)
c.4431A>T (p.Pro1477=)
c.4332A>T (p.Pro1444=)
c.4302A>T (p.Pro1434=)
c.4272A>T (p.Pro1424=)
c.4143A>T (p.Pro1381=)
c.4122A>T (p.Pro1374=)
n.4427-1807A>T
ClinVar dbSNP gnomAD v4
6g.157198899C>ACA366239879ARID1Bc.4312C>A (p.Gln1438Lys)
c.4381C>A (p.Gln1461Lys)
c.4600C>A (p.Gln1534Lys)
c.4351C>A (p.Gln1451Lys)
c.4063C>A (p.Gln1355Lys)
c.2629C>A (p.Gln877Lys)
c.1792C>A (p.Gln598Lys)
c.1423C>A (p.Gln475Lys)
n.2934C>A
n.391C>A
c.4471C>A (p.Gln1491Lys)
n.2468C>A
c.1839C>A
c.1753C>A
n.1137C>A
c.1813C>A (p.Gln605Lys)
c.1972C>A (p.Gln658Lys)
c.4102C>A (p.Gln1368Lys)
c.4222C>A (p.Gln1408Lys)
c.3301C>A (p.Gln1101Lys)
c.3121C>A (p.Gln1041Lys)
c.2881C>A (p.Gln961Lys)
c.2500C>A (p.Gln834Lys)
c.1363C>A (p.Gln455Lys)
c.4432C>A (p.Gln1478Lys)
c.4333C>A (p.Gln1445Lys)
c.4303C>A (p.Gln1435Lys)
c.4273C>A (p.Gln1425Lys)
c.4144C>A (p.Gln1382Lys)
c.4123C>A (p.Gln1375Lys)
n.4427-1806C>A
gnomAD v4
6g.157198899C=CA1675542249ARID1Bc.4312C= (p.Gln1438=)
c.4381C= (p.Gln1461=)
c.4600C= (p.Gln1534=)
c.4351C= (p.Gln1451=)
c.4063C= (p.Gln1355=)
c.2629C= (p.Gln877=)
c.1792C= (p.Gln598=)
c.1423C= (p.Gln475=)
n.2934C=
n.391C=
c.4471C= (p.Gln1491=)
n.2468C=
c.1839C=
c.1753C=
n.1137C=
c.1813C= (p.Gln605=)
c.1972C= (p.Gln658=)
c.4102C= (p.Gln1368=)
c.4222C= (p.Gln1408=)
c.3301C= (p.Gln1101=)
c.3121C= (p.Gln1041=)
c.2881C= (p.Gln961=)
c.2500C= (p.Gln834=)
c.1363C= (p.Gln455=)
c.4432C= (p.Gln1478=)
c.4333C= (p.Gln1445=)
c.4303C= (p.Gln1435=)
c.4273C= (p.Gln1425=)
c.4144C= (p.Gln1382=)
c.4123C= (p.Gln1375=)
n.4427-1806C=
6g.157198899C>GCA366239880ARID1Bc.4312C>G (p.Gln1438Glu)
c.4381C>G (p.Gln1461Glu)
c.4600C>G (p.Gln1534Glu)
c.4351C>G (p.Gln1451Glu)
c.4063C>G (p.Gln1355Glu)
c.2629C>G (p.Gln877Glu)
c.1792C>G (p.Gln598Glu)
c.1423C>G (p.Gln475Glu)
n.2934C>G
n.391C>G
c.4471C>G (p.Gln1491Glu)
n.2468C>G
c.1839C>G
c.1753C>G
n.1137C>G
c.1813C>G (p.Gln605Glu)
c.1972C>G (p.Gln658Glu)
c.4102C>G (p.Gln1368Glu)
c.4222C>G (p.Gln1408Glu)
c.3301C>G (p.Gln1101Glu)
c.3121C>G (p.Gln1041Glu)
c.2881C>G (p.Gln961Glu)
c.2500C>G (p.Gln834Glu)
c.1363C>G (p.Gln455Glu)
c.4432C>G (p.Gln1478Glu)
c.4333C>G (p.Gln1445Glu)
c.4303C>G (p.Gln1435Glu)
c.4273C>G (p.Gln1425Glu)
c.4144C>G (p.Gln1382Glu)
c.4123C>G (p.Gln1375Glu)
n.4427-1806C>G
6g.157198899C>TCA151059ARID1Bc.4312C>T (p.Gln1438Ter)
c.4381C>T (p.Gln1461Ter)
c.4600C>T (p.Gln1534Ter)
c.4351C>T (p.Gln1451Ter)
c.4063C>T (p.Gln1355Ter)
c.2629C>T (p.Gln877Ter)
c.1792C>T (p.Gln598Ter)
c.1423C>T (p.Gln475Ter)
n.2934C>T
n.391C>T
c.4471C>T (p.Gln1491Ter)
n.2468C>T
c.1839C>T
c.1753C>T
n.1137C>T
c.1813C>T (p.Gln605Ter)
c.1972C>T (p.Gln658Ter)
c.4102C>T (p.Gln1368Ter)
c.4222C>T (p.Gln1408Ter)
c.3301C>T (p.Gln1101Ter)
c.3121C>T (p.Gln1041Ter)
c.2881C>T (p.Gln961Ter)
c.2500C>T (p.Gln834Ter)
c.1363C>T (p.Gln455Ter)
c.4432C>T (p.Gln1478Ter)
c.4333C>T (p.Gln1445Ter)
c.4303C>T (p.Gln1435Ter)
c.4273C>T (p.Gln1425Ter)
c.4144C>T (p.Gln1382Ter)
c.4123C>T (p.Gln1375Ter)
n.4427-1806C>T
ClinVar dbSNP
6g.157198900A>CCA366239883ARID1Bc.4313A>C (p.Gln1438Pro)
c.4382A>C (p.Gln1461Pro)
c.4601A>C (p.Gln1534Pro)
c.4352A>C (p.Gln1451Pro)
c.4064A>C (p.Gln1355Pro)
c.2630A>C (p.Gln877Pro)
c.1793A>C (p.Gln598Pro)
c.1424A>C (p.Gln475Pro)
n.2935A>C
n.392A>C
c.4472A>C (p.Gln1491Pro)
n.2469A>C
c.1840A>C
c.1754A>C
n.1138A>C
c.1814A>C (p.Gln605Pro)
c.1973A>C (p.Gln658Pro)
c.4103A>C (p.Gln1368Pro)
c.4223A>C (p.Gln1408Pro)
c.3302A>C (p.Gln1101Pro)
c.3122A>C (p.Gln1041Pro)
c.2882A>C (p.Gln961Pro)
c.2501A>C (p.Gln834Pro)
c.1364A>C (p.Gln455Pro)
c.4433A>C (p.Gln1478Pro)
c.4334A>C (p.Gln1445Pro)
c.4304A>C (p.Gln1435Pro)
c.4274A>C (p.Gln1425Pro)
c.4145A>C (p.Gln1382Pro)
c.4124A>C (p.Gln1375Pro)
n.4427-1805A>C
6g.157198900A>GCA366239885ARID1Bc.4313A>G (p.Gln1438Arg)
c.4382A>G (p.Gln1461Arg)
c.4601A>G (p.Gln1534Arg)
c.4352A>G (p.Gln1451Arg)
c.4064A>G (p.Gln1355Arg)
c.2630A>G (p.Gln877Arg)
c.1793A>G (p.Gln598Arg)
c.1424A>G (p.Gln475Arg)
n.2935A>G
n.392A>G
c.4472A>G (p.Gln1491Arg)
n.2469A>G
c.1840A>G
c.1754A>G
n.1138A>G
c.1814A>G (p.Gln605Arg)
c.1973A>G (p.Gln658Arg)
c.4103A>G (p.Gln1368Arg)
c.4223A>G (p.Gln1408Arg)
c.3302A>G (p.Gln1101Arg)
c.3122A>G (p.Gln1041Arg)
c.2882A>G (p.Gln961Arg)
c.2501A>G (p.Gln834Arg)
c.1364A>G (p.Gln455Arg)
c.4433A>G (p.Gln1478Arg)
c.4334A>G (p.Gln1445Arg)
c.4304A>G (p.Gln1435Arg)
c.4274A>G (p.Gln1425Arg)
c.4145A>G (p.Gln1382Arg)
c.4124A>G (p.Gln1375Arg)
n.4427-1805A>G
dbSNP gnomAD v4
6g.157198900A>TCA366239887ARID1Bc.4313A>T (p.Gln1438Leu)
c.4382A>T (p.Gln1461Leu)
c.4601A>T (p.Gln1534Leu)
c.4352A>T (p.Gln1451Leu)
c.4064A>T (p.Gln1355Leu)
c.2630A>T (p.Gln877Leu)
c.1793A>T (p.Gln598Leu)
c.1424A>T (p.Gln475Leu)
n.2935A>T
n.392A>T
c.4472A>T (p.Gln1491Leu)
n.2469A>T
c.1840A>T
c.1754A>T
n.1138A>T
c.1814A>T (p.Gln605Leu)
c.1973A>T (p.Gln658Leu)
c.4103A>T (p.Gln1368Leu)
c.4223A>T (p.Gln1408Leu)
c.3302A>T (p.Gln1101Leu)
c.3122A>T (p.Gln1041Leu)
c.2882A>T (p.Gln961Leu)
c.2501A>T (p.Gln834Leu)
c.1364A>T (p.Gln455Leu)
c.4433A>T (p.Gln1478Leu)
c.4334A>T (p.Gln1445Leu)
c.4304A>T (p.Gln1435Leu)
c.4274A>T (p.Gln1425Leu)
c.4145A>T (p.Gln1382Leu)
c.4124A>T (p.Gln1375Leu)
n.4427-1805A>T
6g.157198901G>ACA452783996ARID1Bc.4314G>A (p.Gln1438=)
c.4383G>A (p.Gln1461=)
c.4602G>A (p.Gln1534=)
c.4353G>A (p.Gln1451=)
c.4065G>A (p.Gln1355=)
c.2631G>A (p.Gln877=)
c.1794G>A (p.Gln598=)
c.1425G>A (p.Gln475=)
n.2936G>A
n.393G>A
c.4473G>A (p.Gln1491=)
n.2470G>A
c.1841G>A
c.1755G>A
n.1139G>A
c.1815G>A (p.Gln605=)
c.1974G>A (p.Gln658=)
c.4104G>A (p.Gln1368=)
c.4224G>A (p.Gln1408=)
c.3303G>A (p.Gln1101=)
c.3123G>A (p.Gln1041=)
c.2883G>A (p.Gln961=)
c.2502G>A (p.Gln834=)
c.1365G>A (p.Gln455=)
c.4434G>A (p.Gln1478=)
c.4335G>A (p.Gln1445=)
c.4305G>A (p.Gln1435=)
c.4275G>A (p.Gln1425=)
c.4146G>A (p.Gln1382=)
c.4125G>A (p.Gln1375=)
n.4427-1804G>A
dbSNP gnomAD v4
6g.157198901G>CCA366239889ARID1Bc.4314G>C (p.Gln1438His)
c.4383G>C (p.Gln1461His)
c.4602G>C (p.Gln1534His)
c.4353G>C (p.Gln1451His)
c.4065G>C (p.Gln1355His)
c.2631G>C (p.Gln877His)
c.1794G>C (p.Gln598His)
c.1425G>C (p.Gln475His)
n.2936G>C
n.393G>C
c.4473G>C (p.Gln1491His)
n.2470G>C
c.1841G>C
c.1755G>C
n.1139G>C
c.1815G>C (p.Gln605His)
c.1974G>C (p.Gln658His)
c.4104G>C (p.Gln1368His)
c.4224G>C (p.Gln1408His)
c.3303G>C (p.Gln1101His)
c.3123G>C (p.Gln1041His)
c.2883G>C (p.Gln961His)
c.2502G>C (p.Gln834His)
c.1365G>C (p.Gln455His)
c.4434G>C (p.Gln1478His)
c.4335G>C (p.Gln1445His)
c.4305G>C (p.Gln1435His)
c.4275G>C (p.Gln1425His)
c.4146G>C (p.Gln1382His)
c.4125G>C (p.Gln1375His)
n.4427-1804G>C
dbSNP gnomAD v4
6g.157198901G>TCA366239890ARID1Bc.4314G>T (p.Gln1438His)
c.4383G>T (p.Gln1461His)
c.4602G>T (p.Gln1534His)
c.4353G>T (p.Gln1451His)
c.4065G>T (p.Gln1355His)
c.2631G>T (p.Gln877His)
c.1794G>T (p.Gln598His)
c.1425G>T (p.Gln475His)
n.2936G>T
n.393G>T
c.4473G>T (p.Gln1491His)
n.2470G>T
c.1841G>T
c.1755G>T
n.1139G>T
c.1815G>T (p.Gln605His)
c.1974G>T (p.Gln658His)
c.4104G>T (p.Gln1368His)
c.4224G>T (p.Gln1408His)
c.3303G>T (p.Gln1101His)
c.3123G>T (p.Gln1041His)
c.2883G>T (p.Gln961His)
c.2502G>T (p.Gln834His)
c.1365G>T (p.Gln455His)
c.4434G>T (p.Gln1478His)
c.4335G>T (p.Gln1445His)
c.4305G>T (p.Gln1435His)
c.4275G>T (p.Gln1425His)
c.4146G>T (p.Gln1382His)
c.4125G>T (p.Gln1375His)
n.4427-1804G>T
gnomAD v4
6g.157198902C>ACA366239895ARID1Bc.4315C>A (p.Gln1439Lys)
c.4384C>A (p.Gln1462Lys)
c.4603C>A (p.Gln1535Lys)
c.4354C>A (p.Gln1452Lys)
c.4066C>A (p.Gln1356Lys)
c.2632C>A (p.Gln878Lys)
c.1795C>A (p.Gln599Lys)
c.1426C>A (p.Gln476Lys)
n.2937C>A
n.394C>A
c.4474C>A (p.Gln1492Lys)
n.2471C>A
c.1842C>A
c.1756C>A
n.1140C>A
c.1816C>A (p.Gln606Lys)
c.1975C>A (p.Gln659Lys)
c.4105C>A (p.Gln1369Lys)
c.4225C>A (p.Gln1409Lys)
c.3304C>A (p.Gln1102Lys)
c.3124C>A (p.Gln1042Lys)
c.2884C>A (p.Gln962Lys)
c.2503C>A (p.Gln835Lys)
c.1366C>A (p.Gln456Lys)
c.4435C>A (p.Gln1479Lys)
c.4336C>A (p.Gln1446Lys)
c.4306C>A (p.Gln1436Lys)
c.4276C>A (p.Gln1426Lys)
c.4147C>A (p.Gln1383Lys)
c.4126C>A (p.Gln1376Lys)
n.4427-1803C>A
dbSNP
6g.157198902C=CA1675542250ARID1Bc.4315C= (p.Gln1439=)
c.4384C= (p.Gln1462=)
c.4603C= (p.Gln1535=)
c.4354C= (p.Gln1452=)
c.4066C= (p.Gln1356=)
c.2632C= (p.Gln878=)
c.1795C= (p.Gln599=)
c.1426C= (p.Gln476=)
n.2937C=
n.394C=
c.4474C= (p.Gln1492=)
n.2471C=
c.1842C=
c.1756C=
n.1140C=
c.1816C= (p.Gln606=)
c.1975C= (p.Gln659=)
c.4105C= (p.Gln1369=)
c.4225C= (p.Gln1409=)
c.3304C= (p.Gln1102=)
c.3124C= (p.Gln1042=)
c.2884C= (p.Gln962=)
c.2503C= (p.Gln835=)
c.1366C= (p.Gln456=)
c.4435C= (p.Gln1479=)
c.4336C= (p.Gln1446=)
c.4306C= (p.Gln1436=)
c.4276C= (p.Gln1426=)
c.4147C= (p.Gln1383=)
c.4126C= (p.Gln1376=)
n.4427-1803C=
6g.157198902C>GCA366239900ARID1Bc.4315C>G (p.Gln1439Glu)
c.4384C>G (p.Gln1462Glu)
c.4603C>G (p.Gln1535Glu)
c.4354C>G (p.Gln1452Glu)
c.4066C>G (p.Gln1356Glu)
c.2632C>G (p.Gln878Glu)
c.1795C>G (p.Gln599Glu)
c.1426C>G (p.Gln476Glu)
n.2937C>G
n.394C>G
c.4474C>G (p.Gln1492Glu)
n.2471C>G
c.1842C>G
c.1756C>G
n.1140C>G
c.1816C>G (p.Gln606Glu)
c.1975C>G (p.Gln659Glu)
c.4105C>G (p.Gln1369Glu)
c.4225C>G (p.Gln1409Glu)
c.3304C>G (p.Gln1102Glu)
c.3124C>G (p.Gln1042Glu)
c.2884C>G (p.Gln962Glu)
c.2503C>G (p.Gln835Glu)
c.1366C>G (p.Gln456Glu)
c.4435C>G (p.Gln1479Glu)
c.4336C>G (p.Gln1446Glu)
c.4306C>G (p.Gln1436Glu)
c.4276C>G (p.Gln1426Glu)
c.4147C>G (p.Gln1383Glu)
c.4126C>G (p.Gln1376Glu)
n.4427-1803C>G
dbSNP
6g.157198902C>TCA366239902ARID1Bc.4315C>T (p.Gln1439Ter)
c.4384C>T (p.Gln1462Ter)
c.4603C>T (p.Gln1535Ter)
c.4354C>T (p.Gln1452Ter)
c.4066C>T (p.Gln1356Ter)
c.2632C>T (p.Gln878Ter)
c.1795C>T (p.Gln599Ter)
c.1426C>T (p.Gln476Ter)
n.2937C>T
n.394C>T
c.4474C>T (p.Gln1492Ter)
n.2471C>T
c.1842C>T
c.1756C>T
n.1140C>T
c.1816C>T (p.Gln606Ter)
c.1975C>T (p.Gln659Ter)
c.4105C>T (p.Gln1369Ter)
c.4225C>T (p.Gln1409Ter)
c.3304C>T (p.Gln1102Ter)
c.3124C>T (p.Gln1042Ter)
c.2884C>T (p.Gln962Ter)
c.2503C>T (p.Gln835Ter)
c.1366C>T (p.Gln456Ter)
c.4435C>T (p.Gln1479Ter)
c.4336C>T (p.Gln1446Ter)
c.4306C>T (p.Gln1436Ter)
c.4276C>T (p.Gln1426Ter)
c.4147C>T (p.Gln1383Ter)
c.4126C>T (p.Gln1376Ter)
n.4427-1803C>T
ClinVar dbSNP gnomAD v4 COSMIC
6g.157198903A=CA1675542251ARID1Bc.4316A= (p.Gln1439=)
c.4385A= (p.Gln1462=)
c.4604A= (p.Gln1535=)
c.4355A= (p.Gln1452=)
c.4067A= (p.Gln1356=)
c.2633A= (p.Gln878=)
c.1796A= (p.Gln599=)
c.1427A= (p.Gln476=)
n.2938A=
n.395A=
c.4475A= (p.Gln1492=)
n.2472A=
c.1843A=
c.1757A=
n.1141A=
c.1817A= (p.Gln606=)
c.1976A= (p.Gln659=)
c.4106A= (p.Gln1369=)
c.4226A= (p.Gln1409=)
c.3305A= (p.Gln1102=)
c.3125A= (p.Gln1042=)
c.2885A= (p.Gln962=)
c.2504A= (p.Gln835=)
c.1367A= (p.Gln456=)
c.4436A= (p.Gln1479=)
c.4337A= (p.Gln1446=)
c.4307A= (p.Gln1436=)
c.4277A= (p.Gln1426=)
c.4148A= (p.Gln1383=)
c.4127A= (p.Gln1376=)
n.4427-1802A=
6g.157198903A>CCA366239904ARID1Bc.4316A>C (p.Gln1439Pro)
c.4385A>C (p.Gln1462Pro)
c.4604A>C (p.Gln1535Pro)
c.4355A>C (p.Gln1452Pro)
c.4067A>C (p.Gln1356Pro)
c.2633A>C (p.Gln878Pro)
c.1796A>C (p.Gln599Pro)
c.1427A>C (p.Gln476Pro)
n.2938A>C
n.395A>C
c.4475A>C (p.Gln1492Pro)
n.2472A>C
c.1843A>C
c.1757A>C
n.1141A>C
c.1817A>C (p.Gln606Pro)
c.1976A>C (p.Gln659Pro)
c.4106A>C (p.Gln1369Pro)
c.4226A>C (p.Gln1409Pro)
c.3305A>C (p.Gln1102Pro)
c.3125A>C (p.Gln1042Pro)
c.2885A>C (p.Gln962Pro)
c.2504A>C (p.Gln835Pro)
c.1367A>C (p.Gln456Pro)
c.4436A>C (p.Gln1479Pro)
c.4337A>C (p.Gln1446Pro)
c.4307A>C (p.Gln1436Pro)
c.4277A>C (p.Gln1426Pro)
c.4148A>C (p.Gln1383Pro)
c.4127A>C (p.Gln1376Pro)
n.4427-1802A>C
6g.157198903A>GCA4067630ARID1Bc.4316A>G (p.Gln1439Arg)
c.4385A>G (p.Gln1462Arg)
c.4604A>G (p.Gln1535Arg)
c.4355A>G (p.Gln1452Arg)
c.4067A>G (p.Gln1356Arg)
c.2633A>G (p.Gln878Arg)
c.1796A>G (p.Gln599Arg)
c.1427A>G (p.Gln476Arg)
n.2938A>G
n.395A>G
c.4475A>G (p.Gln1492Arg)
n.2472A>G
c.1843A>G
c.1757A>G
n.1141A>G
c.1817A>G (p.Gln606Arg)
c.1976A>G (p.Gln659Arg)
c.4106A>G (p.Gln1369Arg)
c.4226A>G (p.Gln1409Arg)
c.3305A>G (p.Gln1102Arg)
c.3125A>G (p.Gln1042Arg)
c.2885A>G (p.Gln962Arg)
c.2504A>G (p.Gln835Arg)
c.1367A>G (p.Gln456Arg)
c.4436A>G (p.Gln1479Arg)
c.4337A>G (p.Gln1446Arg)
c.4307A>G (p.Gln1436Arg)
c.4277A>G (p.Gln1426Arg)
c.4148A>G (p.Gln1383Arg)
c.4127A>G (p.Gln1376Arg)
n.4427-1802A>G
dbSNP ExAC gnomAD v2 gnomAD v4
6g.157198903A>TCA366239909ARID1Bc.4316A>T (p.Gln1439Leu)
c.4385A>T (p.Gln1462Leu)
c.4604A>T (p.Gln1535Leu)
c.4355A>T (p.Gln1452Leu)
c.4067A>T (p.Gln1356Leu)
c.2633A>T (p.Gln878Leu)
c.1796A>T (p.Gln599Leu)
c.1427A>T (p.Gln476Leu)
n.2938A>T
n.395A>T
c.4475A>T (p.Gln1492Leu)
n.2472A>T
c.1843A>T
c.1757A>T
n.1141A>T
c.1817A>T (p.Gln606Leu)
c.1976A>T (p.Gln659Leu)
c.4106A>T (p.Gln1369Leu)
c.4226A>T (p.Gln1409Leu)
c.3305A>T (p.Gln1102Leu)
c.3125A>T (p.Gln1042Leu)
c.2885A>T (p.Gln962Leu)
c.2504A>T (p.Gln835Leu)
c.1367A>T (p.Gln456Leu)
c.4436A>T (p.Gln1479Leu)
c.4337A>T (p.Gln1446Leu)
c.4307A>T (p.Gln1436Leu)
c.4277A>T (p.Gln1426Leu)
c.4148A>T (p.Gln1383Leu)
c.4127A>T (p.Gln1376Leu)
n.4427-1802A>T
dbSNP
6g.157198904G>ACA452783998ARID1Bc.4317G>A (p.Gln1439=)
c.4386G>A (p.Gln1462=)
c.4605G>A (p.Gln1535=)
c.4356G>A (p.Gln1452=)
c.4068G>A (p.Gln1356=)
c.2634G>A (p.Gln878=)
c.1797G>A (p.Gln599=)
c.1428G>A (p.Gln476=)
n.2939G>A
n.396G>A
c.4476G>A (p.Gln1492=)
n.2473G>A
c.1844G>A
c.1758G>A
n.1142G>A
c.1818G>A (p.Gln606=)
c.1977G>A (p.Gln659=)
c.4107G>A (p.Gln1369=)
c.4227G>A (p.Gln1409=)
c.3306G>A (p.Gln1102=)
c.3126G>A (p.Gln1042=)
c.2886G>A (p.Gln962=)
c.2505G>A (p.Gln835=)
c.1368G>A (p.Gln456=)
c.4437G>A (p.Gln1479=)
c.4338G>A (p.Gln1446=)
c.4308G>A (p.Gln1436=)
c.4278G>A (p.Gln1426=)
c.4149G>A (p.Gln1383=)
c.4128G>A (p.Gln1376=)
n.4427-1801G>A
dbSNP gnomAD v4
6g.157198904G>CCA366239911ARID1Bc.4317G>C (p.Gln1439His)
c.4386G>C (p.Gln1462His)
c.4605G>C (p.Gln1535His)
c.4356G>C (p.Gln1452His)
c.4068G>C (p.Gln1356His)
c.2634G>C (p.Gln878His)
c.1797G>C (p.Gln599His)
c.1428G>C (p.Gln476His)
n.2939G>C
n.396G>C
c.4476G>C (p.Gln1492His)
n.2473G>C
c.1844G>C
c.1758G>C
n.1142G>C
c.1818G>C (p.Gln606His)
c.1977G>C (p.Gln659His)
c.4107G>C (p.Gln1369His)
c.4227G>C (p.Gln1409His)
c.3306G>C (p.Gln1102His)
c.3126G>C (p.Gln1042His)
c.2886G>C (p.Gln962His)
c.2505G>C (p.Gln835His)
c.1368G>C (p.Gln456His)
c.4437G>C (p.Gln1479His)
c.4338G>C (p.Gln1446His)
c.4308G>C (p.Gln1436His)
c.4278G>C (p.Gln1426His)
c.4149G>C (p.Gln1383His)
c.4128G>C (p.Gln1376His)
n.4427-1801G>C
dbSNP
6g.157198904G>TCA366239912ARID1Bc.4317G>T (p.Gln1439His)
c.4386G>T (p.Gln1462His)
c.4605G>T (p.Gln1535His)
c.4356G>T (p.Gln1452His)
c.4068G>T (p.Gln1356His)
c.2634G>T (p.Gln878His)
c.1797G>T (p.Gln599His)
c.1428G>T (p.Gln476His)
n.2939G>T
n.396G>T
c.4476G>T (p.Gln1492His)
n.2473G>T
c.1844G>T
c.1758G>T
n.1142G>T
c.1818G>T (p.Gln606His)
c.1977G>T (p.Gln659His)
c.4107G>T (p.Gln1369His)
c.4227G>T (p.Gln1409His)
c.3306G>T (p.Gln1102His)
c.3126G>T (p.Gln1042His)
c.2886G>T (p.Gln962His)
c.2505G>T (p.Gln835His)
c.1368G>T (p.Gln456His)
c.4437G>T (p.Gln1479His)
c.4338G>T (p.Gln1446His)
c.4308G>T (p.Gln1436His)
c.4278G>T (p.Gln1426His)
c.4149G>T (p.Gln1383His)
c.4128G>T (p.Gln1376His)
n.4427-1801G>T
gnomAD v4
6g.157198905C>ACA366239913ARID1Bc.4318C>A (p.Pro1440Thr)
c.4387C>A (p.Pro1463Thr)
c.4606C>A (p.Pro1536Thr)
c.4357C>A (p.Pro1453Thr)
c.4069C>A (p.Pro1357Thr)
c.2635C>A (p.Pro879Thr)
c.1798C>A (p.Pro600Thr)
c.1429C>A (p.Pro477Thr)
n.2940C>A
n.397C>A
c.4477C>A (p.Pro1493Thr)
n.2474C>A
c.1845C>A
c.1759C>A
n.1143C>A
c.1819C>A (p.Pro607Thr)
c.1978C>A (p.Pro660Thr)
c.4108C>A (p.Pro1370Thr)
c.4228C>A (p.Pro1410Thr)
c.3307C>A (p.Pro1103Thr)
c.3127C>A (p.Pro1043Thr)
c.2887C>A (p.Pro963Thr)
c.2506C>A (p.Pro836Thr)
c.1369C>A (p.Pro457Thr)
c.4438C>A (p.Pro1480Thr)
c.4339C>A (p.Pro1447Thr)
c.4309C>A (p.Pro1437Thr)
c.4279C>A (p.Pro1427Thr)
c.4150C>A (p.Pro1384Thr)
c.4129C>A (p.Pro1377Thr)
n.4427-1800C>A
dbSNP gnomAD v4
6g.157198905C>GCA366239914ARID1Bc.4318C>G (p.Pro1440Ala)
c.4387C>G (p.Pro1463Ala)
c.4606C>G (p.Pro1536Ala)
c.4357C>G (p.Pro1453Ala)
c.4069C>G (p.Pro1357Ala)
c.2635C>G (p.Pro879Ala)
c.1798C>G (p.Pro600Ala)
c.1429C>G (p.Pro477Ala)
n.2940C>G
n.397C>G
c.4477C>G (p.Pro1493Ala)
n.2474C>G
c.1845C>G
c.1759C>G
n.1143C>G
c.1819C>G (p.Pro607Ala)
c.1978C>G (p.Pro660Ala)
c.4108C>G (p.Pro1370Ala)
c.4228C>G (p.Pro1410Ala)
c.3307C>G (p.Pro1103Ala)
c.3127C>G (p.Pro1043Ala)
c.2887C>G (p.Pro963Ala)
c.2506C>G (p.Pro836Ala)
c.1369C>G (p.Pro457Ala)
c.4438C>G (p.Pro1480Ala)
c.4339C>G (p.Pro1447Ala)
c.4309C>G (p.Pro1437Ala)
c.4279C>G (p.Pro1427Ala)
c.4150C>G (p.Pro1384Ala)
c.4129C>G (p.Pro1377Ala)
n.4427-1800C>G
dbSNP
6g.157198905C>TCA366239916ARID1Bc.4318C>T (p.Pro1440Ser)
c.4387C>T (p.Pro1463Ser)
c.4606C>T (p.Pro1536Ser)
c.4357C>T (p.Pro1453Ser)
c.4069C>T (p.Pro1357Ser)
c.2635C>T (p.Pro879Ser)
c.1798C>T (p.Pro600Ser)
c.1429C>T (p.Pro477Ser)
n.2940C>T
n.397C>T
c.4477C>T (p.Pro1493Ser)
n.2474C>T
c.1845C>T
c.1759C>T
n.1143C>T
c.1819C>T (p.Pro607Ser)
c.1978C>T (p.Pro660Ser)
c.4108C>T (p.Pro1370Ser)
c.4228C>T (p.Pro1410Ser)
c.3307C>T (p.Pro1103Ser)
c.3127C>T (p.Pro1043Ser)
c.2887C>T (p.Pro963Ser)
c.2506C>T (p.Pro836Ser)
c.1369C>T (p.Pro457Ser)
c.4438C>T (p.Pro1480Ser)
c.4339C>T (p.Pro1447Ser)
c.4309C>T (p.Pro1437Ser)
c.4279C>T (p.Pro1427Ser)
c.4150C>T (p.Pro1384Ser)
c.4129C>T (p.Pro1377Ser)
n.4427-1800C>T
dbSNP gnomAD v4
6g.157198906delCA2573052628ARID1Bc.4319del (p.Pro1440ArgfsTer?)
c.4388del (p.Pro1463ArgfsTer?)
c.4607del (p.Pro1536ArgfsTer?)
c.4358del (p.Pro1453ArgfsTer?)
c.4070del (p.Pro1357ArgfsTer?)
c.2636del (p.Pro879ArgfsTer?)
c.1799del (p.Pro600ArgfsTer?)
c.1430del (p.Pro477ArgfsTer?)
n.2941del
n.398del
c.4478del (p.Pro1493ArgfsTer?)
n.2475del
c.1846del
c.1760del
n.1144del
c.1820del (p.Pro607ArgfsTer?)
c.1979del (p.Pro660ArgfsTer?)
c.4109del (p.Pro1370ArgfsTer?)
c.4229del (p.Pro1410ArgfsTer?)
c.3308del (p.Pro1103ArgfsTer?)
c.3128del (p.Pro1043ArgfsTer?)
c.2888del (p.Pro963ArgfsTer?)
c.2507del (p.Pro836ArgfsTer?)
c.1370del (p.Pro457ArgfsTer?)
c.4439del (p.Pro1480ArgfsTer?)
c.4340del (p.Pro1447ArgfsTer?)
c.4310del (p.Pro1437ArgfsTer?)
c.4280del (p.Pro1427ArgfsTer?)
c.4151del (p.Pro1384ArgfsTer?)
c.4130del (p.Pro1377ArgfsTer?)
n.4427-1799del
ClinVar dbSNP
6g.157198906C>ACA366239918ARID1Bc.4319C>A (p.Pro1440Gln)
c.4388C>A (p.Pro1463Gln)
c.4607C>A (p.Pro1536Gln)
c.4358C>A (p.Pro1453Gln)
c.4070C>A (p.Pro1357Gln)
c.2636C>A (p.Pro879Gln)
c.1799C>A (p.Pro600Gln)
c.1430C>A (p.Pro477Gln)
n.2941C>A
n.398C>A
c.4478C>A (p.Pro1493Gln)
n.2475C>A
c.1846C>A
c.1760C>A
n.1144C>A
c.1820C>A (p.Pro607Gln)
c.1979C>A (p.Pro660Gln)
c.4109C>A (p.Pro1370Gln)
c.4229C>A (p.Pro1410Gln)
c.3308C>A (p.Pro1103Gln)
c.3128C>A (p.Pro1043Gln)
c.2888C>A (p.Pro963Gln)
c.2507C>A (p.Pro836Gln)
c.1370C>A (p.Pro457Gln)
c.4439C>A (p.Pro1480Gln)
c.4340C>A (p.Pro1447Gln)
c.4310C>A (p.Pro1437Gln)
c.4280C>A (p.Pro1427Gln)
c.4151C>A (p.Pro1384Gln)
c.4130C>A (p.Pro1377Gln)
n.4427-1799C>A
gnomAD v4
6g.157198906C=CA1675542252ARID1Bc.4319C= (p.Pro1440=)
c.4388C= (p.Pro1463=)
c.4607C= (p.Pro1536=)
c.4358C= (p.Pro1453=)
c.4070C= (p.Pro1357=)
c.2636C= (p.Pro879=)
c.1799C= (p.Pro600=)
c.1430C= (p.Pro477=)
n.2941C=
n.398C=
c.4478C= (p.Pro1493=)
n.2475C=
c.1846C=
c.1760C=
n.1144C=
c.1820C= (p.Pro607=)
c.1979C= (p.Pro660=)
c.4109C= (p.Pro1370=)
c.4229C= (p.Pro1410=)
c.3308C= (p.Pro1103=)
c.3128C= (p.Pro1043=)
c.2888C= (p.Pro963=)
c.2507C= (p.Pro836=)
c.1370C= (p.Pro457=)
c.4439C= (p.Pro1480=)
c.4340C= (p.Pro1447=)
c.4310C= (p.Pro1437=)
c.4280C= (p.Pro1427=)
c.4151C= (p.Pro1384=)
c.4130C= (p.Pro1377=)
n.4427-1799C=
6g.157198906C>GCA366239921ARID1Bc.4319C>G (p.Pro1440Arg)
c.4388C>G (p.Pro1463Arg)
c.4607C>G (p.Pro1536Arg)
c.4358C>G (p.Pro1453Arg)
c.4070C>G (p.Pro1357Arg)
c.2636C>G (p.Pro879Arg)
c.1799C>G (p.Pro600Arg)
c.1430C>G (p.Pro477Arg)
n.2941C>G
n.398C>G
c.4478C>G (p.Pro1493Arg)
n.2475C>G
c.1846C>G
c.1760C>G
n.1144C>G
c.1820C>G (p.Pro607Arg)
c.1979C>G (p.Pro660Arg)
c.4109C>G (p.Pro1370Arg)
c.4229C>G (p.Pro1410Arg)
c.3308C>G (p.Pro1103Arg)
c.3128C>G (p.Pro1043Arg)
c.2888C>G (p.Pro963Arg)
c.2507C>G (p.Pro836Arg)
c.1370C>G (p.Pro457Arg)
c.4439C>G (p.Pro1480Arg)
c.4340C>G (p.Pro1447Arg)
c.4310C>G (p.Pro1437Arg)
c.4280C>G (p.Pro1427Arg)
c.4151C>G (p.Pro1384Arg)
c.4130C>G (p.Pro1377Arg)
n.4427-1799C>G
dbSNP
6g.157198906C>TCA4067631ARID1Bc.4319C>T (p.Pro1440Leu)
c.4388C>T (p.Pro1463Leu)
c.4607C>T (p.Pro1536Leu)
c.4358C>T (p.Pro1453Leu)
c.4070C>T (p.Pro1357Leu)
c.2636C>T (p.Pro879Leu)
c.1799C>T (p.Pro600Leu)
c.1430C>T (p.Pro477Leu)
n.2941C>T
n.398C>T
c.4478C>T (p.Pro1493Leu)
n.2475C>T
c.1846C>T
c.1760C>T
n.1144C>T
c.1820C>T (p.Pro607Leu)
c.1979C>T (p.Pro660Leu)
c.4109C>T (p.Pro1370Leu)
c.4229C>T (p.Pro1410Leu)
c.3308C>T (p.Pro1103Leu)
c.3128C>T (p.Pro1043Leu)
c.2888C>T (p.Pro963Leu)
c.2507C>T (p.Pro836Leu)
c.1370C>T (p.Pro457Leu)
c.4439C>T (p.Pro1480Leu)
c.4340C>T (p.Pro1447Leu)
c.4310C>T (p.Pro1437Leu)
c.4280C>T (p.Pro1427Leu)
c.4151C>T (p.Pro1384Leu)
c.4130C>T (p.Pro1377Leu)
n.4427-1799C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.157198907G>ACA207808ARID1Bc.4320G>A (p.Pro1440=)
c.4389G>A (p.Pro1463=)
c.4608G>A (p.Pro1536=)
c.4359G>A (p.Pro1453=)
c.4071G>A (p.Pro1357=)
c.2637G>A (p.Pro879=)
c.1800G>A (p.Pro600=)
c.1431G>A (p.Pro477=)
n.2942G>A
n.399G>A
c.4479G>A (p.Pro1493=)
n.2476G>A
c.1847G>A
c.1761G>A
n.1145G>A
c.1821G>A (p.Pro607=)
c.1980G>A (p.Pro660=)
c.4110G>A (p.Pro1370=)
c.4230G>A (p.Pro1410=)
c.3309G>A (p.Pro1103=)
c.3129G>A (p.Pro1043=)
c.2889G>A (p.Pro963=)
c.2508G>A (p.Pro836=)
c.1371G>A (p.Pro457=)
c.4440G>A (p.Pro1480=)
c.4341G>A (p.Pro1447=)
c.4311G>A (p.Pro1437=)
c.4281G>A (p.Pro1427=)
c.4152G>A (p.Pro1384=)
c.4131G>A (p.Pro1377=)
n.4427-1798G>A
ClinVar dbSNP gnomAD v4
6g.157198907G>CCA452783999ARID1Bc.4320G>C (p.Pro1440=)
c.4389G>C (p.Pro1463=)
c.4608G>C (p.Pro1536=)
c.4359G>C (p.Pro1453=)
c.4071G>C (p.Pro1357=)
c.2637G>C (p.Pro879=)
c.1800G>C (p.Pro600=)
c.1431G>C (p.Pro477=)
n.2942G>C
n.399G>C
c.4479G>C (p.Pro1493=)
n.2476G>C
c.1847G>C
c.1761G>C
n.1145G>C
c.1821G>C (p.Pro607=)
c.1980G>C (p.Pro660=)
c.4110G>C (p.Pro1370=)
c.4230G>C (p.Pro1410=)
c.3309G>C (p.Pro1103=)
c.3129G>C (p.Pro1043=)
c.2889G>C (p.Pro963=)
c.2508G>C (p.Pro836=)
c.1371G>C (p.Pro457=)
c.4440G>C (p.Pro1480=)
c.4341G>C (p.Pro1447=)
c.4311G>C (p.Pro1437=)
c.4281G>C (p.Pro1427=)
c.4152G>C (p.Pro1384=)
c.4131G>C (p.Pro1377=)
n.4427-1798G>C
ClinVar dbSNP COSMIC COSMIC
6g.157198907G=CA1675542253ARID1Bc.4320G= (p.Pro1440=)
c.4389G= (p.Pro1463=)
c.4608G= (p.Pro1536=)
c.4359G= (p.Pro1453=)
c.4071G= (p.Pro1357=)
c.2637G= (p.Pro879=)
c.1800G= (p.Pro600=)
c.1431G= (p.Pro477=)
n.2942G=
n.399G=
c.4479G= (p.Pro1493=)
n.2476G=
c.1847G=
c.1761G=
n.1145G=
c.1821G= (p.Pro607=)
c.1980G= (p.Pro660=)
c.4110G= (p.Pro1370=)
c.4230G= (p.Pro1410=)
c.3309G= (p.Pro1103=)
c.3129G= (p.Pro1043=)
c.2889G= (p.Pro963=)
c.2508G= (p.Pro836=)
c.1371G= (p.Pro457=)
c.4440G= (p.Pro1480=)
c.4341G= (p.Pro1447=)
c.4311G= (p.Pro1437=)
c.4281G= (p.Pro1427=)
c.4152G= (p.Pro1384=)
c.4131G= (p.Pro1377=)
n.4427-1798G=
6g.157198907G>TCA452784000ARID1Bc.4320G>T (p.Pro1440=)
c.4389G>T (p.Pro1463=)
c.4608G>T (p.Pro1536=)
c.4359G>T (p.Pro1453=)
c.4071G>T (p.Pro1357=)
c.2637G>T (p.Pro879=)
c.1800G>T (p.Pro600=)
c.1431G>T (p.Pro477=)
n.2942G>T
n.399G>T
c.4479G>T (p.Pro1493=)
n.2476G>T
c.1847G>T
c.1761G>T
n.1145G>T
c.1821G>T (p.Pro607=)
c.1980G>T (p.Pro660=)
c.4110G>T (p.Pro1370=)
c.4230G>T (p.Pro1410=)
c.3309G>T (p.Pro1103=)
c.3129G>T (p.Pro1043=)
c.2889G>T (p.Pro963=)
c.2508G>T (p.Pro836=)
c.1371G>T (p.Pro457=)
c.4440G>T (p.Pro1480=)
c.4341G>T (p.Pro1447=)
c.4311G>T (p.Pro1437=)
c.4281G>T (p.Pro1427=)
c.4152G>T (p.Pro1384=)
c.4131G>T (p.Pro1377=)
n.4427-1798G>T
dbSNP gnomAD v4
6g.157198908G>ACA366239929ARID1Bc.4320+1G>A (n.4320+1G>A)
c.4389+1G>A (n.4389+1G>A)
c.4608+1G>A (n.4608+1G>A)
c.4359+1G>A (n.4359+1G>A)
c.4071+1G>A (n.4071+1G>A)
c.2637+1G>A (n.2637+1G>A)
c.1800+1G>A (n.1800+1G>A)
c.1431+1G>A (n.1431+1G>A)
n.2942+1G>A
n.399+1G>A
c.4479+1G>A (n.4479+1G>A)
n.2476+1G>A
c.1847+1G>A
c.1761+1G>A
n.1145+1G>A
c.1821+1G>A (n.1821+1G>A)
c.1980+1G>A (n.1980+1G>A)
c.4110+1G>A (n.4110+1G>A)
c.4230+1G>A (n.4230+1G>A)
c.3309+1G>A (n.3309+1G>A)
c.3129+1G>A (n.3129+1G>A)
c.2889+1G>A (n.2889+1G>A)
c.2508+1G>A (n.2508+1G>A)
c.1371+1G>A (n.1371+1G>A)
c.4440+1G>A (n.4440+1G>A)
c.4341+1G>A (n.4341+1G>A)
c.4311+1G>A (n.4311+1G>A)
c.4281+1G>A (n.4281+1G>A)
c.4152+1G>A (n.4152+1G>A)
c.4131+1G>A (n.4131+1G>A)
n.4427-1797G>A
dbSNP gnomAD v4
6g.157198908G>CCA366239926ARID1Bc.4320+1G>C (n.4320+1G>C)
c.4389+1G>C (n.4389+1G>C)
c.4608+1G>C (n.4608+1G>C)
c.4359+1G>C (n.4359+1G>C)
c.4071+1G>C (n.4071+1G>C)
c.2637+1G>C (n.2637+1G>C)
c.1800+1G>C (n.1800+1G>C)
c.1431+1G>C (n.1431+1G>C)
n.2942+1G>C
n.399+1G>C
c.4479+1G>C (n.4479+1G>C)
n.2476+1G>C
c.1847+1G>C
c.1761+1G>C
n.1145+1G>C
c.1821+1G>C (n.1821+1G>C)
c.1980+1G>C (n.1980+1G>C)
c.4110+1G>C (n.4110+1G>C)
c.4230+1G>C (n.4230+1G>C)
c.3309+1G>C (n.3309+1G>C)
c.3129+1G>C (n.3129+1G>C)
c.2889+1G>C (n.2889+1G>C)
c.2508+1G>C (n.2508+1G>C)
c.1371+1G>C (n.1371+1G>C)
c.4440+1G>C (n.4440+1G>C)
c.4341+1G>C (n.4341+1G>C)
c.4311+1G>C (n.4311+1G>C)
c.4281+1G>C (n.4281+1G>C)
c.4152+1G>C (n.4152+1G>C)
c.4131+1G>C (n.4131+1G>C)
n.4427-1797G>C
ClinVar dbSNP
6g.157198908G=CA1675542254ARID1Bc.4320+1G= (n.4320+1G=)
c.4389+1G= (n.4389+1G=)
c.4608+1G= (n.4608+1G=)
c.4359+1G= (n.4359+1G=)
c.4071+1G= (n.4071+1G=)
c.2637+1G= (n.2637+1G=)
c.1800+1G= (n.1800+1G=)
c.1431+1G= (n.1431+1G=)
n.2942+1G=
n.399+1G=
c.4479+1G= (n.4479+1G=)
n.2476+1G=
c.1847+1G=
c.1761+1G=
n.1145+1G=
c.1821+1G= (n.1821+1G=)
c.1980+1G= (n.1980+1G=)
c.4110+1G= (n.4110+1G=)
c.4230+1G= (n.4230+1G=)
c.3309+1G= (n.3309+1G=)
c.3129+1G= (n.3129+1G=)
c.2889+1G= (n.2889+1G=)
c.2508+1G= (n.2508+1G=)
c.1371+1G= (n.1371+1G=)
c.4440+1G= (n.4440+1G=)
c.4341+1G= (n.4341+1G=)
c.4311+1G= (n.4311+1G=)
c.4281+1G= (n.4281+1G=)
c.4152+1G= (n.4152+1G=)
c.4131+1G= (n.4131+1G=)
n.4427-1797G=
6g.157198908G>TCA366239931ARID1Bc.4320+1G>T (n.4320+1G>T)
c.4389+1G>T (n.4389+1G>T)
c.4608+1G>T (n.4608+1G>T)
c.4359+1G>T (n.4359+1G>T)
c.4071+1G>T (n.4071+1G>T)
c.2637+1G>T (n.2637+1G>T)
c.1800+1G>T (n.1800+1G>T)
c.1431+1G>T (n.1431+1G>T)
n.2942+1G>T
n.399+1G>T
c.4479+1G>T (n.4479+1G>T)
n.2476+1G>T
c.1847+1G>T
c.1761+1G>T
n.1145+1G>T
c.1821+1G>T (n.1821+1G>T)
c.1980+1G>T (n.1980+1G>T)
c.4110+1G>T (n.4110+1G>T)
c.4230+1G>T (n.4230+1G>T)
c.3309+1G>T (n.3309+1G>T)
c.3129+1G>T (n.3129+1G>T)
c.2889+1G>T (n.2889+1G>T)
c.2508+1G>T (n.2508+1G>T)
c.1371+1G>T (n.1371+1G>T)
c.4440+1G>T (n.4440+1G>T)
c.4341+1G>T (n.4341+1G>T)
c.4311+1G>T (n.4311+1G>T)
c.4281+1G>T (n.4281+1G>T)
c.4152+1G>T (n.4152+1G>T)
c.4131+1G>T (n.4131+1G>T)
n.4427-1797G>T
ClinVar dbSNP
6g.157198909T>ACA366239934ARID1Bc.4320+2T>A (n.4320+2T>A)
c.4389+2T>A (n.4389+2T>A)
c.4608+2T>A (n.4608+2T>A)
c.4359+2T>A (n.4359+2T>A)
c.4071+2T>A (n.4071+2T>A)
c.2637+2T>A (n.2637+2T>A)
c.1800+2T>A (n.1800+2T>A)
c.1431+2T>A (n.1431+2T>A)
n.2942+2T>A
n.399+2T>A
c.4479+2T>A (n.4479+2T>A)
n.2476+2T>A
c.1847+2T>A
c.1761+2T>A
n.1145+2T>A
c.1821+2T>A (n.1821+2T>A)
c.1980+2T>A (n.1980+2T>A)
c.4110+2T>A (n.4110+2T>A)
c.4230+2T>A (n.4230+2T>A)
c.3309+2T>A (n.3309+2T>A)
c.3129+2T>A (n.3129+2T>A)
c.2889+2T>A (n.2889+2T>A)
c.2508+2T>A (n.2508+2T>A)
c.1371+2T>A (n.1371+2T>A)
c.4440+2T>A (n.4440+2T>A)
c.4341+2T>A (n.4341+2T>A)
c.4311+2T>A (n.4311+2T>A)
c.4281+2T>A (n.4281+2T>A)
c.4152+2T>A (n.4152+2T>A)
c.4131+2T>A (n.4131+2T>A)
n.4427-1796T>A
dbSNP
6g.157198909T>CCA366239940ARID1Bc.4320+2T>C (n.4320+2T>C)
c.4389+2T>C (n.4389+2T>C)
c.4608+2T>C (n.4608+2T>C)
c.4359+2T>C (n.4359+2T>C)
c.4071+2T>C (n.4071+2T>C)
c.2637+2T>C (n.2637+2T>C)
c.1800+2T>C (n.1800+2T>C)
c.1431+2T>C (n.1431+2T>C)
n.2942+2T>C
n.399+2T>C
c.4479+2T>C (n.4479+2T>C)
n.2476+2T>C
c.1847+2T>C
c.1761+2T>C
n.1145+2T>C
c.1821+2T>C (n.1821+2T>C)
c.1980+2T>C (n.1980+2T>C)
c.4110+2T>C (n.4110+2T>C)
c.4230+2T>C (n.4230+2T>C)
c.3309+2T>C (n.3309+2T>C)
c.3129+2T>C (n.3129+2T>C)
c.2889+2T>C (n.2889+2T>C)
c.2508+2T>C (n.2508+2T>C)
c.1371+2T>C (n.1371+2T>C)
c.4440+2T>C (n.4440+2T>C)
c.4341+2T>C (n.4341+2T>C)
c.4311+2T>C (n.4311+2T>C)
c.4281+2T>C (n.4281+2T>C)
c.4152+2T>C (n.4152+2T>C)
c.4131+2T>C (n.4131+2T>C)
n.4427-1796T>C
gnomAD v4
6g.157198909T>GCA366239937ARID1Bc.4320+2T>G (n.4320+2T>G)
c.4389+2T>G (n.4389+2T>G)
c.4608+2T>G (n.4608+2T>G)
c.4359+2T>G (n.4359+2T>G)
c.4071+2T>G (n.4071+2T>G)
c.2637+2T>G (n.2637+2T>G)
c.1800+2T>G (n.1800+2T>G)
c.1431+2T>G (n.1431+2T>G)
n.2942+2T>G
n.399+2T>G
c.4479+2T>G (n.4479+2T>G)
n.2476+2T>G
c.1847+2T>G
c.1761+2T>G
n.1145+2T>G
c.1821+2T>G (n.1821+2T>G)
c.1980+2T>G (n.1980+2T>G)
c.4110+2T>G (n.4110+2T>G)
c.4230+2T>G (n.4230+2T>G)
c.3309+2T>G (n.3309+2T>G)
c.3129+2T>G (n.3129+2T>G)
c.2889+2T>G (n.2889+2T>G)
c.2508+2T>G (n.2508+2T>G)
c.1371+2T>G (n.1371+2T>G)
c.4440+2T>G (n.4440+2T>G)
c.4341+2T>G (n.4341+2T>G)
c.4311+2T>G (n.4311+2T>G)
c.4281+2T>G (n.4281+2T>G)
c.4152+2T>G (n.4152+2T>G)
c.4131+2T>G (n.4131+2T>G)
n.4427-1796T>G
dbSNP gnomAD v4
6g.157198910G>ACA2713416062ARID1Bc.4320+3G>A (n.4320+3G>A)
c.4389+3G>A (n.4389+3G>A)
c.4608+3G>A (n.4608+3G>A)
c.4359+3G>A (n.4359+3G>A)
c.4071+3G>A (n.4071+3G>A)
c.2637+3G>A (n.2637+3G>A)
c.1800+3G>A (n.1800+3G>A)
c.1431+3G>A (n.1431+3G>A)
n.2942+3G>A
n.399+3G>A
c.4479+3G>A (n.4479+3G>A)
n.2476+3G>A
c.1847+3G>A
c.1761+3G>A
n.1145+3G>A
c.1821+3G>A (n.1821+3G>A)
c.1980+3G>A (n.1980+3G>A)
c.4110+3G>A (n.4110+3G>A)
c.4230+3G>A (n.4230+3G>A)
c.3309+3G>A (n.3309+3G>A)
c.3129+3G>A (n.3129+3G>A)
c.2889+3G>A (n.2889+3G>A)
c.2508+3G>A (n.2508+3G>A)
c.1371+3G>A (n.1371+3G>A)
c.4440+3G>A (n.4440+3G>A)
c.4341+3G>A (n.4341+3G>A)
c.4311+3G>A (n.4311+3G>A)
c.4281+3G>A (n.4281+3G>A)
c.4152+3G>A (n.4152+3G>A)
c.4131+3G>A (n.4131+3G>A)
n.4427-1795G>A
dbSNP
6g.157198911A>TCA2773709051ARID1Bc.4320+4A>T (n.4320+4A>T)
c.4389+4A>T (n.4389+4A>T)
c.4608+4A>T (n.4608+4A>T)
c.4359+4A>T (n.4359+4A>T)
c.4071+4A>T (n.4071+4A>T)
c.2637+4A>T (n.2637+4A>T)
c.1800+4A>T (n.1800+4A>T)
c.1431+4A>T (n.1431+4A>T)
n.2942+4A>T
n.399+4A>T
c.4479+4A>T (n.4479+4A>T)
n.2476+4A>T
c.1847+4A>T
c.1761+4A>T
n.1145+4A>T
c.1821+4A>T (n.1821+4A>T)
c.1980+4A>T (n.1980+4A>T)
c.4110+4A>T (n.4110+4A>T)
c.4230+4A>T (n.4230+4A>T)
c.3309+4A>T (n.3309+4A>T)
c.3129+4A>T (n.3129+4A>T)
c.2889+4A>T (n.2889+4A>T)
c.2508+4A>T (n.2508+4A>T)
c.1371+4A>T (n.1371+4A>T)
c.4440+4A>T (n.4440+4A>T)
c.4341+4A>T (n.4341+4A>T)
c.4311+4A>T (n.4311+4A>T)
c.4281+4A>T (n.4281+4A>T)
c.4152+4A>T (n.4152+4A>T)
c.4131+4A>T (n.4131+4A>T)
n.4427-1794A>T
6g.157198912G>ACA2580075308ARID1Bc.4320+5G>A (n.4320+5G>A)
c.4389+5G>A (n.4389+5G>A)
c.4608+5G>A (n.4608+5G>A)
c.4359+5G>A (n.4359+5G>A)
c.4071+5G>A (n.4071+5G>A)
c.2637+5G>A (n.2637+5G>A)
c.1800+5G>A (n.1800+5G>A)
c.1431+5G>A (n.1431+5G>A)
n.2942+5G>A
n.399+5G>A
c.4479+5G>A (n.4479+5G>A)
n.2476+5G>A
c.1847+5G>A
c.1761+5G>A
n.1145+5G>A
c.1821+5G>A (n.1821+5G>A)
c.1980+5G>A (n.1980+5G>A)
c.4110+5G>A (n.4110+5G>A)
c.4230+5G>A (n.4230+5G>A)
c.3309+5G>A (n.3309+5G>A)
c.3129+5G>A (n.3129+5G>A)
c.2889+5G>A (n.2889+5G>A)
c.2508+5G>A (n.2508+5G>A)
c.1371+5G>A (n.1371+5G>A)
c.4440+5G>A (n.4440+5G>A)
c.4341+5G>A (n.4341+5G>A)
c.4311+5G>A (n.4311+5G>A)
c.4281+5G>A (n.4281+5G>A)
c.4152+5G>A (n.4152+5G>A)
c.4131+5G>A (n.4131+5G>A)
n.4427-1793G>A
ClinVar dbSNP
6g.157198912G>CCA2713416091ARID1Bc.4320+5G>C (n.4320+5G>C)
c.4389+5G>C (n.4389+5G>C)
c.4608+5G>C (n.4608+5G>C)
c.4359+5G>C (n.4359+5G>C)
c.4071+5G>C (n.4071+5G>C)
c.2637+5G>C (n.2637+5G>C)
c.1800+5G>C (n.1800+5G>C)
c.1431+5G>C (n.1431+5G>C)
n.2942+5G>C
n.399+5G>C
c.4479+5G>C (n.4479+5G>C)
n.2476+5G>C
c.1847+5G>C
c.1761+5G>C
n.1145+5G>C
c.1821+5G>C (n.1821+5G>C)
c.1980+5G>C (n.1980+5G>C)
c.4110+5G>C (n.4110+5G>C)
c.4230+5G>C (n.4230+5G>C)
c.3309+5G>C (n.3309+5G>C)
c.3129+5G>C (n.3129+5G>C)
c.2889+5G>C (n.2889+5G>C)
c.2508+5G>C (n.2508+5G>C)
c.1371+5G>C (n.1371+5G>C)
c.4440+5G>C (n.4440+5G>C)
c.4341+5G>C (n.4341+5G>C)
c.4311+5G>C (n.4311+5G>C)
c.4281+5G>C (n.4281+5G>C)
c.4152+5G>C (n.4152+5G>C)
c.4131+5G>C (n.4131+5G>C)
n.4427-1793G>C
dbSNP
6g.157198912G>TCA2680895406ARID1Bc.4320+5G>T (n.4320+5G>T)
c.4389+5G>T (n.4389+5G>T)
c.4608+5G>T (n.4608+5G>T)
c.4359+5G>T (n.4359+5G>T)
c.4071+5G>T (n.4071+5G>T)
c.2637+5G>T (n.2637+5G>T)
c.1800+5G>T (n.1800+5G>T)
c.1431+5G>T (n.1431+5G>T)
n.2942+5G>T
n.399+5G>T
c.4479+5G>T (n.4479+5G>T)
n.2476+5G>T
c.1847+5G>T
c.1761+5G>T
n.1145+5G>T
c.1821+5G>T (n.1821+5G>T)
c.1980+5G>T (n.1980+5G>T)
c.4110+5G>T (n.4110+5G>T)
c.4230+5G>T (n.4230+5G>T)
c.3309+5G>T (n.3309+5G>T)
c.3129+5G>T (n.3129+5G>T)
c.2889+5G>T (n.2889+5G>T)
c.2508+5G>T (n.2508+5G>T)
c.1371+5G>T (n.1371+5G>T)
c.4440+5G>T (n.4440+5G>T)
c.4341+5G>T (n.4341+5G>T)
c.4311+5G>T (n.4311+5G>T)
c.4281+5G>T (n.4281+5G>T)
c.4152+5G>T (n.4152+5G>T)
c.4131+5G>T (n.4131+5G>T)
n.4427-1793G>T
gnomAD v4
6g.157198913T>ACA2713416093ARID1Bc.4320+6T>A (n.4320+6T>A)
c.4389+6T>A (n.4389+6T>A)
c.4608+6T>A (n.4608+6T>A)
c.4359+6T>A (n.4359+6T>A)
c.4071+6T>A (n.4071+6T>A)
c.2637+6T>A (n.2637+6T>A)
c.1800+6T>A (n.1800+6T>A)
c.1431+6T>A (n.1431+6T>A)
n.2942+6T>A
n.399+6T>A
c.4479+6T>A (n.4479+6T>A)
n.2476+6T>A
c.1847+6T>A
c.1761+6T>A
n.1145+6T>A
c.1821+6T>A (n.1821+6T>A)
c.1980+6T>A (n.1980+6T>A)
c.4110+6T>A (n.4110+6T>A)
c.4230+6T>A (n.4230+6T>A)
c.3309+6T>A (n.3309+6T>A)
c.3129+6T>A (n.3129+6T>A)
c.2889+6T>A (n.2889+6T>A)
c.2508+6T>A (n.2508+6T>A)
c.1371+6T>A (n.1371+6T>A)
c.4440+6T>A (n.4440+6T>A)
c.4341+6T>A (n.4341+6T>A)
c.4311+6T>A (n.4311+6T>A)
c.4281+6T>A (n.4281+6T>A)
c.4152+6T>A (n.4152+6T>A)
c.4131+6T>A (n.4131+6T>A)
n.4427-1792T>A
dbSNP
6g.157198913T>CCA2680895408ARID1Bc.4320+6T>C (n.4320+6T>C)
c.4389+6T>C (n.4389+6T>C)
c.4608+6T>C (n.4608+6T>C)
c.4359+6T>C (n.4359+6T>C)
c.4071+6T>C (n.4071+6T>C)
c.2637+6T>C (n.2637+6T>C)
c.1800+6T>C (n.1800+6T>C)
c.1431+6T>C (n.1431+6T>C)
n.2942+6T>C
n.399+6T>C
c.4479+6T>C (n.4479+6T>C)
n.2476+6T>C
c.1847+6T>C
c.1761+6T>C
n.1145+6T>C
c.1821+6T>C (n.1821+6T>C)
c.1980+6T>C (n.1980+6T>C)
c.4110+6T>C (n.4110+6T>C)
c.4230+6T>C (n.4230+6T>C)
c.3309+6T>C (n.3309+6T>C)
c.3129+6T>C (n.3129+6T>C)
c.2889+6T>C (n.2889+6T>C)
c.2508+6T>C (n.2508+6T>C)
c.1371+6T>C (n.1371+6T>C)
c.4440+6T>C (n.4440+6T>C)
c.4341+6T>C (n.4341+6T>C)
c.4311+6T>C (n.4311+6T>C)
c.4281+6T>C (n.4281+6T>C)
c.4152+6T>C (n.4152+6T>C)
c.4131+6T>C (n.4131+6T>C)
n.4427-1792T>C
gnomAD v4
6g.157198913T>GCA2713416094ARID1Bc.4320+6T>G (n.4320+6T>G)
c.4389+6T>G (n.4389+6T>G)
c.4608+6T>G (n.4608+6T>G)
c.4359+6T>G (n.4359+6T>G)
c.4071+6T>G (n.4071+6T>G)
c.2637+6T>G (n.2637+6T>G)
c.1800+6T>G (n.1800+6T>G)
c.1431+6T>G (n.1431+6T>G)
n.2942+6T>G
n.399+6T>G
c.4479+6T>G (n.4479+6T>G)
n.2476+6T>G
c.1847+6T>G
c.1761+6T>G
n.1145+6T>G
c.1821+6T>G (n.1821+6T>G)
c.1980+6T>G (n.1980+6T>G)
c.4110+6T>G (n.4110+6T>G)
c.4230+6T>G (n.4230+6T>G)
c.3309+6T>G (n.3309+6T>G)
c.3129+6T>G (n.3129+6T>G)
c.2889+6T>G (n.2889+6T>G)
c.2508+6T>G (n.2508+6T>G)
c.1371+6T>G (n.1371+6T>G)
c.4440+6T>G (n.4440+6T>G)
c.4341+6T>G (n.4341+6T>G)
c.4311+6T>G (n.4311+6T>G)
c.4281+6T>G (n.4281+6T>G)
c.4152+6T>G (n.4152+6T>G)
c.4131+6T>G (n.4131+6T>G)
n.4427-1792T>G
dbSNP

Number of alleles fetched