Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.33743962G>ACA402190099ASXL3c.4117G>A (p.Glu1373Lys)
c.4114G>A (p.Glu1372Lys)
c.3994G>A (p.Glu1332Lys)
c.4090G>A (p.Glu1364Lys)
c.4036G>A (p.Glu1346Lys)
c.3997G>A (p.Glu1333Lys)
c.3946G>A (p.Glu1316Lys)
c.1078G>A (p.Glu360Lys)
18g.33743962G>CCA402190100ASXL3c.4117G>C (p.Glu1373Gln)
c.4114G>C (p.Glu1372Gln)
c.3994G>C (p.Glu1332Gln)
c.4090G>C (p.Glu1364Gln)
c.4036G>C (p.Glu1346Gln)
c.3997G>C (p.Glu1333Gln)
c.3946G>C (p.Glu1316Gln)
c.1078G>C (p.Glu360Gln)
18g.33743962G>TCA402190101ASXL3c.4117G>T (p.Glu1373Ter)
c.4114G>T (p.Glu1372Ter)
c.3994G>T (p.Glu1332Ter)
c.4090G>T (p.Glu1364Ter)
c.4036G>T (p.Glu1346Ter)
c.3997G>T (p.Glu1333Ter)
c.3946G>T (p.Glu1316Ter)
c.1078G>T (p.Glu360Ter)
18g.33743963A=CA2294857920ASXL3c.4118A= (p.Glu1373=)
c.4115A= (p.Glu1372=)
c.3995A= (p.Glu1332=)
c.4091A= (p.Glu1364=)
c.4037A= (p.Glu1346=)
c.3998A= (p.Glu1333=)
c.3947A= (p.Glu1316=)
c.1079A= (p.Glu360=)
18g.33743963A>CCA402190105ASXL3c.4118A>C (p.Glu1373Ala)
c.4115A>C (p.Glu1372Ala)
c.3995A>C (p.Glu1332Ala)
c.4091A>C (p.Glu1364Ala)
c.4037A>C (p.Glu1346Ala)
c.3998A>C (p.Glu1333Ala)
c.3947A>C (p.Glu1316Ala)
c.1079A>C (p.Glu360Ala)
18g.33743963A>GCA402190107ASXL3c.4118A>G (p.Glu1373Gly)
c.4115A>G (p.Glu1372Gly)
c.3995A>G (p.Glu1332Gly)
c.4091A>G (p.Glu1364Gly)
c.4037A>G (p.Glu1346Gly)
c.3998A>G (p.Glu1333Gly)
c.3947A>G (p.Glu1316Gly)
c.1079A>G (p.Glu360Gly)
18g.33743963A>TCA402190109ASXL3c.4118A>T (p.Glu1373Val)
c.4115A>T (p.Glu1372Val)
c.3995A>T (p.Glu1332Val)
c.4091A>T (p.Glu1364Val)
c.4037A>T (p.Glu1346Val)
c.3998A>T (p.Glu1333Val)
c.3947A>T (p.Glu1316Val)
c.1079A>T (p.Glu360Val)
 dbSNP
18g.33743964G>ACA503769914ASXL3c.4119G>A (p.Glu1373=)
c.4116G>A (p.Glu1372=)
c.3996G>A (p.Glu1332=)
c.4092G>A (p.Glu1364=)
c.4038G>A (p.Glu1346=)
c.3999G>A (p.Glu1333=)
c.3948G>A (p.Glu1316=)
c.1080G>A (p.Glu360=)
18g.33743964G>CCA402190112ASXL3c.4119G>C (p.Glu1373Asp)
c.4116G>C (p.Glu1372Asp)
c.3996G>C (p.Glu1332Asp)
c.4092G>C (p.Glu1364Asp)
c.4038G>C (p.Glu1346Asp)
c.3999G>C (p.Glu1333Asp)
c.3948G>C (p.Glu1316Asp)
c.1080G>C (p.Glu360Asp)
18g.33743964G>TCA402190114ASXL3c.4119G>T (p.Glu1373Asp)
c.4116G>T (p.Glu1372Asp)
c.3996G>T (p.Glu1332Asp)
c.4092G>T (p.Glu1364Asp)
c.4038G>T (p.Glu1346Asp)
c.3999G>T (p.Glu1333Asp)
c.3948G>T (p.Glu1316Asp)
c.1080G>T (p.Glu360Asp)
18g.33743965A=CA2294857921ASXL3c.4120A= (p.Lys1374=)
c.4117A= (p.Lys1373=)
c.3997A= (p.Lys1333=)
c.4093A= (p.Lys1365=)
c.4039A= (p.Lys1347=)
c.4000A= (p.Lys1334=)
c.3949A= (p.Lys1317=)
c.1081A= (p.Lys361=)
18g.33743965A>CCA402190116ASXL3c.4120A>C (p.Lys1374Gln)
c.4117A>C (p.Lys1373Gln)
c.3997A>C (p.Lys1333Gln)
c.4093A>C (p.Lys1365Gln)
c.4039A>C (p.Lys1347Gln)
c.4000A>C (p.Lys1334Gln)
c.3949A>C (p.Lys1317Gln)
c.1081A>C (p.Lys361Gln)
18g.33743965A>GCA8934174ASXL3c.4120A>G (p.Lys1374Glu)
c.4117A>G (p.Lys1373Glu)
c.3997A>G (p.Lys1333Glu)
c.4093A>G (p.Lys1365Glu)
c.4039A>G (p.Lys1347Glu)
c.4000A>G (p.Lys1334Glu)
c.3949A>G (p.Lys1317Glu)
c.1081A>G (p.Lys361Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743965A>TCA402190119ASXL3c.4120A>T (p.Lys1374Ter)
c.4117A>T (p.Lys1373Ter)
c.3997A>T (p.Lys1333Ter)
c.4093A>T (p.Lys1365Ter)
c.4039A>T (p.Lys1347Ter)
c.4000A>T (p.Lys1334Ter)
c.3949A>T (p.Lys1317Ter)
c.1081A>T (p.Lys361Ter)
18g.33743966A=CA2294857922ASXL3c.4121A= (p.Lys1374=)
c.4118A= (p.Lys1373=)
c.3998A= (p.Lys1333=)
c.4094A= (p.Lys1365=)
c.4040A= (p.Lys1347=)
c.4001A= (p.Lys1334=)
c.3950A= (p.Lys1317=)
c.1082A= (p.Lys361=)
18g.33743966A>CCA402190127ASXL3c.4121A>C (p.Lys1374Thr)
c.4118A>C (p.Lys1373Thr)
c.3998A>C (p.Lys1333Thr)
c.4094A>C (p.Lys1365Thr)
c.4040A>C (p.Lys1347Thr)
c.4001A>C (p.Lys1334Thr)
c.3950A>C (p.Lys1317Thr)
c.1082A>C (p.Lys361Thr)
18g.33743966A>GCA402190125ASXL3c.4121A>G (p.Lys1374Arg)
c.4118A>G (p.Lys1373Arg)
c.3998A>G (p.Lys1333Arg)
c.4094A>G (p.Lys1365Arg)
c.4040A>G (p.Lys1347Arg)
c.4001A>G (p.Lys1334Arg)
c.3950A>G (p.Lys1317Arg)
c.1082A>G (p.Lys361Arg)
18g.33743966A>TCA402190123ASXL3c.4121A>T (p.Lys1374Met)
c.4118A>T (p.Lys1373Met)
c.3998A>T (p.Lys1333Met)
c.4094A>T (p.Lys1365Met)
c.4040A>T (p.Lys1347Met)
c.4001A>T (p.Lys1334Met)
c.3950A>T (p.Lys1317Met)
c.1082A>T (p.Lys361Met)
18g.33743968_33743971dupCA2499225137ASXL3c.4123_4126dup (p.Ala1376AspfsTer7)
c.4120_4123dup (p.Ala1375AspfsTer7)
c.4000_4003dup (p.Ala1335AspfsTer7)
c.4096_4099dup (p.Ala1367AspfsTer7)
c.4042_4045dup (p.Ala1349AspfsTer7)
c.4003_4006dup (p.Ala1336AspfsTer7)
c.3952_3955dup (p.Ala1319AspfsTer7)
c.1084_1087dup (p.Ala363AspfsTer7)
 ClinVar dbSNP
18g.33743967G>ACA503769924ASXL3c.4122G>A (p.Lys1374=)
c.4119G>A (p.Lys1373=)
c.3999G>A (p.Lys1333=)
c.4095G>A (p.Lys1365=)
c.4041G>A (p.Lys1347=)
c.4002G>A (p.Lys1334=)
c.3951G>A (p.Lys1317=)
c.1083G>A (p.Lys361=)
18g.33743967G>CCA402190132ASXL3c.4122G>C (p.Lys1374Asn)
c.4119G>C (p.Lys1373Asn)
c.3999G>C (p.Lys1333Asn)
c.4095G>C (p.Lys1365Asn)
c.4041G>C (p.Lys1347Asn)
c.4002G>C (p.Lys1334Asn)
c.3951G>C (p.Lys1317Asn)
c.1083G>C (p.Lys361Asn)
18g.33743967G=CA2294857923ASXL3c.4122G= (p.Lys1374=)
c.4119G= (p.Lys1373=)
c.3999G= (p.Lys1333=)
c.4095G= (p.Lys1365=)
c.4041G= (p.Lys1347=)
c.4002G= (p.Lys1334=)
c.3951G= (p.Lys1317=)
c.1083G= (p.Lys361=)
18g.33743967G>TCA8934176ASXL3c.4122G>T (p.Lys1374Asn)
c.4119G>T (p.Lys1373Asn)
c.3999G>T (p.Lys1333Asn)
c.4095G>T (p.Lys1365Asn)
c.4041G>T (p.Lys1347Asn)
c.4002G>T (p.Lys1334Asn)
c.3951G>T (p.Lys1317Asn)
c.1083G>T (p.Lys361Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743967_33743969dupCA8934175ASXL3c.4122_4124dup (p.Lys1374_Ile1375insMet)
c.4119_4121dup (p.Lys1373_Ile1374insMet)
c.3999_4001dup (p.Lys1333_Ile1334insMet)
c.4095_4097dup (p.Lys1365_Ile1366insMet)
c.4041_4043dup (p.Lys1347_Ile1348insMet)
c.4002_4004dup (p.Lys1334_Ile1335insMet)
c.3951_3953dup (p.Lys1317_Ile1318insMet)
c.1083_1085dup (p.Lys361_Ile362insMet)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743968A>CCA402190137ASXL3c.4123A>C (p.Ile1375Leu)
c.4120A>C (p.Ile1374Leu)
c.4000A>C (p.Ile1334Leu)
c.4096A>C (p.Ile1366Leu)
c.4042A>C (p.Ile1348Leu)
c.4003A>C (p.Ile1335Leu)
c.3952A>C (p.Ile1318Leu)
c.1084A>C (p.Ile362Leu)
18g.33743968A>GCA402190139ASXL3c.4123A>G (p.Ile1375Val)
c.4120A>G (p.Ile1374Val)
c.4000A>G (p.Ile1334Val)
c.4096A>G (p.Ile1366Val)
c.4042A>G (p.Ile1348Val)
c.4003A>G (p.Ile1335Val)
c.3952A>G (p.Ile1318Val)
c.1084A>G (p.Ile362Val)
18g.33743968A>TCA402190141ASXL3c.4123A>T (p.Ile1375Leu)
c.4120A>T (p.Ile1374Leu)
c.4000A>T (p.Ile1334Leu)
c.4096A>T (p.Ile1366Leu)
c.4042A>T (p.Ile1348Leu)
c.4003A>T (p.Ile1335Leu)
c.3952A>T (p.Ile1318Leu)
c.1084A>T (p.Ile362Leu)
 ClinVar dbSNP
18g.33743969T>ACA402190144ASXL3c.4124T>A (p.Ile1375Lys)
c.4121T>A (p.Ile1374Lys)
c.4001T>A (p.Ile1334Lys)
c.4097T>A (p.Ile1366Lys)
c.4043T>A (p.Ile1348Lys)
c.4004T>A (p.Ile1335Lys)
c.3953T>A (p.Ile1318Lys)
c.1085T>A (p.Ile362Lys)
18g.33743969T>CCA402190146ASXL3c.4124T>C (p.Ile1375Thr)
c.4121T>C (p.Ile1374Thr)
c.4001T>C (p.Ile1334Thr)
c.4097T>C (p.Ile1366Thr)
c.4043T>C (p.Ile1348Thr)
c.4004T>C (p.Ile1335Thr)
c.3953T>C (p.Ile1318Thr)
c.1085T>C (p.Ile362Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743969T>GCA8934177ASXL3c.4124T>G (p.Ile1375Arg)
c.4121T>G (p.Ile1374Arg)
c.4001T>G (p.Ile1334Arg)
c.4097T>G (p.Ile1366Arg)
c.4043T>G (p.Ile1348Arg)
c.4004T>G (p.Ile1335Arg)
c.3953T>G (p.Ile1318Arg)
c.1085T>G (p.Ile362Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743969T=CA2294857924ASXL3c.4124T= (p.Ile1375=)
c.4121T= (p.Ile1374=)
c.4001T= (p.Ile1334=)
c.4097T= (p.Ile1366=)
c.4043T= (p.Ile1348=)
c.4004T= (p.Ile1335=)
c.3953T= (p.Ile1318=)
c.1085T= (p.Ile362=)
18g.33743970A>CCA503769928ASXL3c.4125A>C (p.Ile1375=)
c.4122A>C (p.Ile1374=)
c.4002A>C (p.Ile1334=)
c.4098A>C (p.Ile1366=)
c.4044A>C (p.Ile1348=)
c.4005A>C (p.Ile1335=)
c.3954A>C (p.Ile1318=)
c.1086A>C (p.Ile362=)
18g.33743970A>GCA402190149ASXL3c.4125A>G (p.Ile1375Met)
c.4122A>G (p.Ile1374Met)
c.4002A>G (p.Ile1334Met)
c.4098A>G (p.Ile1366Met)
c.4044A>G (p.Ile1348Met)
c.4005A>G (p.Ile1335Met)
c.3954A>G (p.Ile1318Met)
c.1086A>G (p.Ile362Met)
18g.33743970A>TCA503769929ASXL3c.4125A>T (p.Ile1375=)
c.4122A>T (p.Ile1374=)
c.4002A>T (p.Ile1334=)
c.4098A>T (p.Ile1366=)
c.4044A>T (p.Ile1348=)
c.4005A>T (p.Ile1335=)
c.3954A>T (p.Ile1318=)
c.1086A>T (p.Ile362=)
18g.33743971G>ACA402190152ASXL3c.4126G>A (p.Ala1376Thr)
c.4123G>A (p.Ala1375Thr)
c.4003G>A (p.Ala1335Thr)
c.4099G>A (p.Ala1367Thr)
c.4045G>A (p.Ala1349Thr)
c.4006G>A (p.Ala1336Thr)
c.3955G>A (p.Ala1319Thr)
c.1087G>A (p.Ala363Thr)
18g.33743971G>CCA402190154ASXL3c.4126G>C (p.Ala1376Pro)
c.4123G>C (p.Ala1375Pro)
c.4003G>C (p.Ala1335Pro)
c.4099G>C (p.Ala1367Pro)
c.4045G>C (p.Ala1349Pro)
c.4006G>C (p.Ala1336Pro)
c.3955G>C (p.Ala1319Pro)
c.1087G>C (p.Ala363Pro)
 gnomAD v4
18g.33743971G>TCA402190156ASXL3c.4126G>T (p.Ala1376Ser)
c.4123G>T (p.Ala1375Ser)
c.4003G>T (p.Ala1335Ser)
c.4099G>T (p.Ala1367Ser)
c.4045G>T (p.Ala1349Ser)
c.4006G>T (p.Ala1336Ser)
c.3955G>T (p.Ala1319Ser)
c.1087G>T (p.Ala363Ser)
18g.33743972C>ACA402190161ASXL3c.4127C>A (p.Ala1376Asp)
c.4124C>A (p.Ala1375Asp)
c.4004C>A (p.Ala1335Asp)
c.4100C>A (p.Ala1367Asp)
c.4046C>A (p.Ala1349Asp)
c.4007C>A (p.Ala1336Asp)
c.3956C>A (p.Ala1319Asp)
c.1088C>A (p.Ala363Asp)
 dbSNP
18g.33743972C>GCA402190163ASXL3c.4127C>G (p.Ala1376Gly)
c.4124C>G (p.Ala1375Gly)
c.4004C>G (p.Ala1335Gly)
c.4100C>G (p.Ala1367Gly)
c.4046C>G (p.Ala1349Gly)
c.4007C>G (p.Ala1336Gly)
c.3956C>G (p.Ala1319Gly)
c.1088C>G (p.Ala363Gly)
18g.33743972C>TCA402190159ASXL3c.4127C>T (p.Ala1376Val)
c.4124C>T (p.Ala1375Val)
c.4004C>T (p.Ala1335Val)
c.4100C>T (p.Ala1367Val)
c.4046C>T (p.Ala1349Val)
c.4007C>T (p.Ala1336Val)
c.3956C>T (p.Ala1319Val)
c.1088C>T (p.Ala363Val)
 COSMIC
18g.33743973C>ACA503769942ASXL3c.4128C>A (p.Ala1376=)
c.4125C>A (p.Ala1375=)
c.4005C>A (p.Ala1335=)
c.4101C>A (p.Ala1367=)
c.4047C>A (p.Ala1349=)
c.4008C>A (p.Ala1336=)
c.3957C>A (p.Ala1319=)
c.1089C>A (p.Ala363=)
 dbSNP gnomAD v4
18g.33743973C=CA2294857925ASXL3c.4128C= (p.Ala1376=)
c.4125C= (p.Ala1375=)
c.4005C= (p.Ala1335=)
c.4101C= (p.Ala1367=)
c.4047C= (p.Ala1349=)
c.4008C= (p.Ala1336=)
c.3957C= (p.Ala1319=)
c.1089C= (p.Ala363=)
18g.33743973C>GCA503769943ASXL3c.4128C>G (p.Ala1376=)
c.4125C>G (p.Ala1375=)
c.4005C>G (p.Ala1335=)
c.4101C>G (p.Ala1367=)
c.4047C>G (p.Ala1349=)
c.4008C>G (p.Ala1336=)
c.3957C>G (p.Ala1319=)
c.1089C>G (p.Ala363=)
18g.33743973C>TCA8934178ASXL3c.4128C>T (p.Ala1376=)
c.4125C>T (p.Ala1375=)
c.4005C>T (p.Ala1335=)
c.4101C>T (p.Ala1367=)
c.4047C>T (p.Ala1349=)
c.4008C>T (p.Ala1336=)
c.3957C>T (p.Ala1319=)
c.1089C>T (p.Ala363=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743974A=CA2294857926ASXL3c.4129A= (p.Ile1377=)
c.4126A= (p.Ile1376=)
c.4006A= (p.Ile1336=)
c.4102A= (p.Ile1368=)
c.4048A= (p.Ile1350=)
c.4009A= (p.Ile1337=)
c.3958A= (p.Ile1320=)
c.1090A= (p.Ile364=)
18g.33743974A>CCA402190168ASXL3c.4129A>C (p.Ile1377Leu)
c.4126A>C (p.Ile1376Leu)
c.4006A>C (p.Ile1336Leu)
c.4102A>C (p.Ile1368Leu)
c.4048A>C (p.Ile1350Leu)
c.4009A>C (p.Ile1337Leu)
c.3958A>C (p.Ile1320Leu)
c.1090A>C (p.Ile364Leu)
18g.33743974A>GCA8934179ASXL3c.4129A>G (p.Ile1377Val)
c.4126A>G (p.Ile1376Val)
c.4006A>G (p.Ile1336Val)
c.4102A>G (p.Ile1368Val)
c.4048A>G (p.Ile1350Val)
c.4009A>G (p.Ile1337Val)
c.3958A>G (p.Ile1320Val)
c.1090A>G (p.Ile364Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743974A>TCA402190171ASXL3c.4129A>T (p.Ile1377Leu)
c.4126A>T (p.Ile1376Leu)
c.4006A>T (p.Ile1336Leu)
c.4102A>T (p.Ile1368Leu)
c.4048A>T (p.Ile1350Leu)
c.4009A>T (p.Ile1337Leu)
c.3958A>T (p.Ile1320Leu)
c.1090A>T (p.Ile364Leu)
18g.33743975T>ACA402190174ASXL3c.4130T>A (p.Ile1377Lys)
c.4127T>A (p.Ile1376Lys)
c.4007T>A (p.Ile1336Lys)
c.4103T>A (p.Ile1368Lys)
c.4049T>A (p.Ile1350Lys)
c.4010T>A (p.Ile1337Lys)
c.3959T>A (p.Ile1320Lys)
c.1091T>A (p.Ile364Lys)
18g.33743975T>CCA402190176ASXL3c.4130T>C (p.Ile1377Thr)
c.4127T>C (p.Ile1376Thr)
c.4007T>C (p.Ile1336Thr)
c.4103T>C (p.Ile1368Thr)
c.4049T>C (p.Ile1350Thr)
c.4010T>C (p.Ile1337Thr)
c.3959T>C (p.Ile1320Thr)
c.1091T>C (p.Ile364Thr)
18g.33743975T>GCA402190178ASXL3c.4130T>G (p.Ile1377Arg)
c.4127T>G (p.Ile1376Arg)
c.4007T>G (p.Ile1336Arg)
c.4103T>G (p.Ile1368Arg)
c.4049T>G (p.Ile1350Arg)
c.4010T>G (p.Ile1337Arg)
c.3959T>G (p.Ile1320Arg)
c.1091T>G (p.Ile364Arg)
18g.33743976A>CCA503769950ASXL3c.4131A>C (p.Ile1377=)
c.4128A>C (p.Ile1376=)
c.4008A>C (p.Ile1336=)
c.4104A>C (p.Ile1368=)
c.4050A>C (p.Ile1350=)
c.4011A>C (p.Ile1337=)
c.3960A>C (p.Ile1320=)
c.1092A>C (p.Ile364=)
18g.33743976A>GCA402190180ASXL3c.4131A>G (p.Ile1377Met)
c.4128A>G (p.Ile1376Met)
c.4008A>G (p.Ile1336Met)
c.4104A>G (p.Ile1368Met)
c.4050A>G (p.Ile1350Met)
c.4011A>G (p.Ile1337Met)
c.3960A>G (p.Ile1320Met)
c.1092A>G (p.Ile364Met)
 dbSNP
18g.33743976A>TCA503769951ASXL3c.4131A>T (p.Ile1377=)
c.4128A>T (p.Ile1376=)
c.4008A>T (p.Ile1336=)
c.4104A>T (p.Ile1368=)
c.4050A>T (p.Ile1350=)
c.4011A>T (p.Ile1337=)
c.3960A>T (p.Ile1320=)
c.1092A>T (p.Ile364=)
18g.33743976_33743981delCA2695227400ASXL3c.4131_4136del (p.Ile1377_Gly1379delinsMet)
c.4128_4133del (p.Ile1376_Gly1378delinsMet)
c.4008_4013del (p.Ile1336_Gly1338delinsMet)
c.4104_4109del (p.Ile1368_Gly1370delinsMet)
c.4050_4055del (p.Ile1350_Gly1352delinsMet)
c.4011_4016del (p.Ile1337_Gly1339delinsMet)
c.3960_3965del (p.Ile1320_Gly1322delinsMet)
c.1092_1097del (p.Ile364_Gly366delinsMet)
18g.33743977C>ACA402190183ASXL3c.4132C>A (p.Pro1378Thr)
c.4129C>A (p.Pro1377Thr)
c.4009C>A (p.Pro1337Thr)
c.4105C>A (p.Pro1369Thr)
c.4051C>A (p.Pro1351Thr)
c.4012C>A (p.Pro1338Thr)
c.3961C>A (p.Pro1321Thr)
c.1093C>A (p.Pro365Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.33743977C=CA2294857927ASXL3c.4132C= (p.Pro1378=)
c.4129C= (p.Pro1377=)
c.4009C= (p.Pro1337=)
c.4105C= (p.Pro1369=)
c.4051C= (p.Pro1351=)
c.4012C= (p.Pro1338=)
c.3961C= (p.Pro1321=)
c.1093C= (p.Pro365=)
18g.33743977C>GCA402190185ASXL3c.4132C>G (p.Pro1378Ala)
c.4129C>G (p.Pro1377Ala)
c.4009C>G (p.Pro1337Ala)
c.4105C>G (p.Pro1369Ala)
c.4051C>G (p.Pro1351Ala)
c.4012C>G (p.Pro1338Ala)
c.3961C>G (p.Pro1321Ala)
c.1093C>G (p.Pro365Ala)
18g.33743977C>TCA402190188ASXL3c.4132C>T (p.Pro1378Ser)
c.4129C>T (p.Pro1377Ser)
c.4009C>T (p.Pro1337Ser)
c.4105C>T (p.Pro1369Ser)
c.4051C>T (p.Pro1351Ser)
c.4012C>T (p.Pro1338Ser)
c.3961C>T (p.Pro1321Ser)
c.1093C>T (p.Pro365Ser)
 gnomAD v4
18g.33743978C>ACA402190191ASXL3c.4133C>A (p.Pro1378His)
c.4130C>A (p.Pro1377His)
c.4010C>A (p.Pro1337His)
c.4106C>A (p.Pro1369His)
c.4052C>A (p.Pro1351His)
c.4013C>A (p.Pro1338His)
c.3962C>A (p.Pro1321His)
c.1094C>A (p.Pro365His)
18g.33743978C>GCA402190192ASXL3c.4133C>G (p.Pro1378Arg)
c.4130C>G (p.Pro1377Arg)
c.4010C>G (p.Pro1337Arg)
c.4106C>G (p.Pro1369Arg)
c.4052C>G (p.Pro1351Arg)
c.4013C>G (p.Pro1338Arg)
c.3962C>G (p.Pro1321Arg)
c.1094C>G (p.Pro365Arg)
 gnomAD v4
18g.33743978C>TCA402190195ASXL3c.4133C>T (p.Pro1378Leu)
c.4130C>T (p.Pro1377Leu)
c.4010C>T (p.Pro1337Leu)
c.4106C>T (p.Pro1369Leu)
c.4052C>T (p.Pro1351Leu)
c.4013C>T (p.Pro1338Leu)
c.3962C>T (p.Pro1321Leu)
c.1094C>T (p.Pro365Leu)
18g.33743979T>ACA503769954ASXL3c.4134T>A (p.Pro1378=)
c.4131T>A (p.Pro1377=)
c.4011T>A (p.Pro1337=)
c.4107T>A (p.Pro1369=)
c.4053T>A (p.Pro1351=)
c.4014T>A (p.Pro1338=)
c.3963T>A (p.Pro1321=)
c.1095T>A (p.Pro365=)
 gnomAD v4
18g.33743979T>CCA297793369ASXL3c.4134T>C (p.Pro1378=)
c.4131T>C (p.Pro1377=)
c.4011T>C (p.Pro1337=)
c.4107T>C (p.Pro1369=)
c.4053T>C (p.Pro1351=)
c.4014T>C (p.Pro1338=)
c.3963T>C (p.Pro1321=)
c.1095T>C (p.Pro365=)
 dbSNP gnomAD v4
18g.33743979T>GCA503769955ASXL3c.4134T>G (p.Pro1378=)
c.4131T>G (p.Pro1377=)
c.4011T>G (p.Pro1337=)
c.4107T>G (p.Pro1369=)
c.4053T>G (p.Pro1351=)
c.4014T>G (p.Pro1338=)
c.3963T>G (p.Pro1321=)
c.1095T>G (p.Pro365=)
 gnomAD v4
18g.33743979T=CA2294857928ASXL3c.4134T= (p.Pro1378=)
c.4131T= (p.Pro1377=)
c.4011T= (p.Pro1337=)
c.4107T= (p.Pro1369=)
c.4053T= (p.Pro1351=)
c.4014T= (p.Pro1338=)
c.3963T= (p.Pro1321=)
c.1095T= (p.Pro365=)
18g.33743980G>ACA402190202ASXL3c.4135G>A (p.Gly1379Arg)
c.4132G>A (p.Gly1378Arg)
c.4012G>A (p.Gly1338Arg)
c.4108G>A (p.Gly1370Arg)
c.4054G>A (p.Gly1352Arg)
c.4015G>A (p.Gly1339Arg)
c.3964G>A (p.Gly1322Arg)
c.1096G>A (p.Gly366Arg)
18g.33743980G>CCA402190200ASXL3c.4135G>C (p.Gly1379Arg)
c.4132G>C (p.Gly1378Arg)
c.4012G>C (p.Gly1338Arg)
c.4108G>C (p.Gly1370Arg)
c.4054G>C (p.Gly1352Arg)
c.4015G>C (p.Gly1339Arg)
c.3964G>C (p.Gly1322Arg)
c.1096G>C (p.Gly366Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743980G=CA2294857929ASXL3c.4135G= (p.Gly1379=)
c.4132G= (p.Gly1378=)
c.4012G= (p.Gly1338=)
c.4108G= (p.Gly1370=)
c.4054G= (p.Gly1352=)
c.4015G= (p.Gly1339=)
c.3964G= (p.Gly1322=)
c.1096G= (p.Gly366=)
18g.33743980G>TCA402190198ASXL3c.4135G>T (p.Gly1379Trp)
c.4132G>T (p.Gly1378Trp)
c.4012G>T (p.Gly1338Trp)
c.4108G>T (p.Gly1370Trp)
c.4054G>T (p.Gly1352Trp)
c.4015G>T (p.Gly1339Trp)
c.3964G>T (p.Gly1322Trp)
c.1096G>T (p.Gly366Trp)
18g.33743981G>ACA8934180ASXL3c.4136G>A (p.Gly1379Glu)
c.4133G>A (p.Gly1378Glu)
c.4013G>A (p.Gly1338Glu)
c.4109G>A (p.Gly1370Glu)
c.4055G>A (p.Gly1352Glu)
c.4016G>A (p.Gly1339Glu)
c.3965G>A (p.Gly1322Glu)
c.1097G>A (p.Gly366Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743981G>CCA402190207ASXL3c.4136G>C (p.Gly1379Ala)
c.4133G>C (p.Gly1378Ala)
c.4013G>C (p.Gly1338Ala)
c.4109G>C (p.Gly1370Ala)
c.4055G>C (p.Gly1352Ala)
c.4016G>C (p.Gly1339Ala)
c.3965G>C (p.Gly1322Ala)
c.1097G>C (p.Gly366Ala)
18g.33743981G=CA2294857930ASXL3c.4136G= (p.Gly1379=)
c.4133G= (p.Gly1378=)
c.4013G= (p.Gly1338=)
c.4109G= (p.Gly1370=)
c.4055G= (p.Gly1352=)
c.4016G= (p.Gly1339=)
c.3965G= (p.Gly1322=)
c.1097G= (p.Gly366=)
18g.33743981G>TCA402190209ASXL3c.4136G>T (p.Gly1379Val)
c.4133G>T (p.Gly1378Val)
c.4013G>T (p.Gly1338Val)
c.4109G>T (p.Gly1370Val)
c.4055G>T (p.Gly1352Val)
c.4016G>T (p.Gly1339Val)
c.3965G>T (p.Gly1322Val)
c.1097G>T (p.Gly366Val)
 COSMIC
18g.33743982G>ACA503769966ASXL3c.4137G>A (p.Gly1379=)
c.4134G>A (p.Gly1378=)
c.4014G>A (p.Gly1338=)
c.4110G>A (p.Gly1370=)
c.4056G>A (p.Gly1352=)
c.4017G>A (p.Gly1339=)
c.3966G>A (p.Gly1322=)
c.1098G>A (p.Gly366=)
 gnomAD v4
18g.33743982G>CCA503769968ASXL3c.4137G>C (p.Gly1379=)
c.4134G>C (p.Gly1378=)
c.4014G>C (p.Gly1338=)
c.4110G>C (p.Gly1370=)
c.4056G>C (p.Gly1352=)
c.4017G>C (p.Gly1339=)
c.3966G>C (p.Gly1322=)
c.1098G>C (p.Gly366=)
18g.33743982G>TCA503769967ASXL3c.4137G>T (p.Gly1379=)
c.4134G>T (p.Gly1378=)
c.4014G>T (p.Gly1338=)
c.4110G>T (p.Gly1370=)
c.4056G>T (p.Gly1352=)
c.4017G>T (p.Gly1339=)
c.3966G>T (p.Gly1322=)
c.1098G>T (p.Gly366=)
18g.33743983A>CCA402190213ASXL3c.4138A>C (p.Ser1380Arg)
c.4135A>C (p.Ser1379Arg)
c.4015A>C (p.Ser1339Arg)
c.4111A>C (p.Ser1371Arg)
c.4057A>C (p.Ser1353Arg)
c.4018A>C (p.Ser1340Arg)
c.3967A>C (p.Ser1323Arg)
c.1099A>C (p.Ser367Arg)
18g.33743983A>GCA402190214ASXL3c.4138A>G (p.Ser1380Gly)
c.4135A>G (p.Ser1379Gly)
c.4015A>G (p.Ser1339Gly)
c.4111A>G (p.Ser1371Gly)
c.4057A>G (p.Ser1353Gly)
c.4018A>G (p.Ser1340Gly)
c.3967A>G (p.Ser1323Gly)
c.1099A>G (p.Ser367Gly)
18g.33743983A>TCA402190215ASXL3c.4138A>T (p.Ser1380Cys)
c.4135A>T (p.Ser1379Cys)
c.4015A>T (p.Ser1339Cys)
c.4111A>T (p.Ser1371Cys)
c.4057A>T (p.Ser1353Cys)
c.4018A>T (p.Ser1340Cys)
c.3967A>T (p.Ser1323Cys)
c.1099A>T (p.Ser367Cys)
18g.33743984G>ACA8934182ASXL3c.4139G>A (p.Ser1380Asn)
c.4136G>A (p.Ser1379Asn)
c.4016G>A (p.Ser1339Asn)
c.4112G>A (p.Ser1371Asn)
c.4058G>A (p.Ser1353Asn)
c.4019G>A (p.Ser1340Asn)
c.3968G>A (p.Ser1323Asn)
c.1100G>A (p.Ser367Asn)
 dbSNP ExAC gnomAD v2
18g.33743984G>CCA8934181ASXL3c.4139G>C (p.Ser1380Thr)
c.4136G>C (p.Ser1379Thr)
c.4016G>C (p.Ser1339Thr)
c.4112G>C (p.Ser1371Thr)
c.4058G>C (p.Ser1353Thr)
c.4019G>C (p.Ser1340Thr)
c.3968G>C (p.Ser1323Thr)
c.1100G>C (p.Ser367Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743984G=CA2294857931ASXL3c.4139G= (p.Ser1380=)
c.4136G= (p.Ser1379=)
c.4016G= (p.Ser1339=)
c.4112G= (p.Ser1371=)
c.4058G= (p.Ser1353=)
c.4019G= (p.Ser1340=)
c.3968G= (p.Ser1323=)
c.1100G= (p.Ser367=)
18g.33743984G>TCA402190221ASXL3c.4139G>T (p.Ser1380Ile)
c.4136G>T (p.Ser1379Ile)
c.4016G>T (p.Ser1339Ile)
c.4112G>T (p.Ser1371Ile)
c.4058G>T (p.Ser1353Ile)
c.4019G>T (p.Ser1340Ile)
c.3968G>T (p.Ser1323Ile)
c.1100G>T (p.Ser367Ile)
18g.33743985T>ACA402190223ASXL3c.4140T>A (p.Ser1380Arg)
c.4137T>A (p.Ser1379Arg)
c.4017T>A (p.Ser1339Arg)
c.4113T>A (p.Ser1371Arg)
c.4059T>A (p.Ser1353Arg)
c.4020T>A (p.Ser1340Arg)
c.3969T>A (p.Ser1323Arg)
c.1101T>A (p.Ser367Arg)
18g.33743985T>CCA503769977ASXL3c.4140T>C (p.Ser1380=)
c.4137T>C (p.Ser1379=)
c.4017T>C (p.Ser1339=)
c.4113T>C (p.Ser1371=)
c.4059T>C (p.Ser1353=)
c.4020T>C (p.Ser1340=)
c.3969T>C (p.Ser1323=)
c.1101T>C (p.Ser367=)
18g.33743985T>GCA402190225ASXL3c.4140T>G (p.Ser1380Arg)
c.4137T>G (p.Ser1379Arg)
c.4017T>G (p.Ser1339Arg)
c.4113T>G (p.Ser1371Arg)
c.4059T>G (p.Ser1353Arg)
c.4020T>G (p.Ser1340Arg)
c.3969T>G (p.Ser1323Arg)
c.1101T>G (p.Ser367Arg)
18g.33743986G>ACA402190228ASXL3c.4141G>A (p.Glu1381Lys)
c.4138G>A (p.Glu1380Lys)
c.4018G>A (p.Glu1340Lys)
c.4114G>A (p.Glu1372Lys)
c.4060G>A (p.Glu1354Lys)
c.4021G>A (p.Glu1341Lys)
c.3970G>A (p.Glu1324Lys)
c.1102G>A (p.Glu368Lys)
 dbSNP gnomAD v3 gnomAD v4
18g.33743986G>CCA402190230ASXL3c.4141G>C (p.Glu1381Gln)
c.4138G>C (p.Glu1380Gln)
c.4018G>C (p.Glu1340Gln)
c.4114G>C (p.Glu1372Gln)
c.4060G>C (p.Glu1354Gln)
c.4021G>C (p.Glu1341Gln)
c.3970G>C (p.Glu1324Gln)
c.1102G>C (p.Glu368Gln)
18g.33743986G=CA2294857932ASXL3c.4141G= (p.Glu1381=)
c.4138G= (p.Glu1380=)
c.4018G= (p.Glu1340=)
c.4114G= (p.Glu1372=)
c.4060G= (p.Glu1354=)
c.4021G= (p.Glu1341=)
c.3970G= (p.Glu1324=)
c.1102G= (p.Glu368=)
18g.33743986G>TCA402190232ASXL3c.4141G>T (p.Glu1381Ter)
c.4138G>T (p.Glu1380Ter)
c.4018G>T (p.Glu1340Ter)
c.4114G>T (p.Glu1372Ter)
c.4060G>T (p.Glu1354Ter)
c.4021G>T (p.Glu1341Ter)
c.3970G>T (p.Glu1324Ter)
c.1102G>T (p.Glu368Ter)
18g.33743987A>CCA402190237ASXL3c.4142A>C (p.Glu1381Ala)
c.4139A>C (p.Glu1380Ala)
c.4019A>C (p.Glu1340Ala)
c.4115A>C (p.Glu1372Ala)
c.4061A>C (p.Glu1354Ala)
c.4022A>C (p.Glu1341Ala)
c.3971A>C (p.Glu1324Ala)
c.1103A>C (p.Glu368Ala)
18g.33743987A>GCA402190239ASXL3c.4142A>G (p.Glu1381Gly)
c.4139A>G (p.Glu1380Gly)
c.4019A>G (p.Glu1340Gly)
c.4115A>G (p.Glu1372Gly)
c.4061A>G (p.Glu1354Gly)
c.4022A>G (p.Glu1341Gly)
c.3971A>G (p.Glu1324Gly)
c.1103A>G (p.Glu368Gly)
 gnomAD v4
18g.33743987A>TCA402190235ASXL3c.4142A>T (p.Glu1381Val)
c.4139A>T (p.Glu1380Val)
c.4019A>T (p.Glu1340Val)
c.4115A>T (p.Glu1372Val)
c.4061A>T (p.Glu1354Val)
c.4022A>T (p.Glu1341Val)
c.3971A>T (p.Glu1324Val)
c.1103A>T (p.Glu368Val)
18g.33743988A>CCA402190242ASXL3c.4143A>C (p.Glu1381Asp)
c.4140A>C (p.Glu1380Asp)
c.4020A>C (p.Glu1340Asp)
c.4116A>C (p.Glu1372Asp)
c.4062A>C (p.Glu1354Asp)
c.4023A>C (p.Glu1341Asp)
c.3972A>C (p.Glu1324Asp)
c.1104A>C (p.Glu368Asp)
18g.33743988A>GCA503769984ASXL3c.4143A>G (p.Glu1381=)
c.4140A>G (p.Glu1380=)
c.4020A>G (p.Glu1340=)
c.4116A>G (p.Glu1372=)
c.4062A>G (p.Glu1354=)
c.4023A>G (p.Glu1341=)
c.3972A>G (p.Glu1324=)
c.1104A>G (p.Glu368=)
18g.33743988A>TCA402190244ASXL3c.4143A>T (p.Glu1381Asp)
c.4140A>T (p.Glu1380Asp)
c.4020A>T (p.Glu1340Asp)
c.4116A>T (p.Glu1372Asp)
c.4062A>T (p.Glu1354Asp)
c.4023A>T (p.Glu1341Asp)
c.3972A>T (p.Glu1324Asp)
c.1104A>T (p.Glu368Asp)
18g.33743989G>ACA402190247ASXL3c.4144G>A (p.Glu1382Lys)
c.4141G>A (p.Glu1381Lys)
c.4021G>A (p.Glu1341Lys)
c.4117G>A (p.Glu1373Lys)
c.4063G>A (p.Glu1355Lys)
c.4024G>A (p.Glu1342Lys)
c.3973G>A (p.Glu1325Lys)
c.1105G>A (p.Glu369Lys)
18g.33743989G>CCA402190249ASXL3c.4144G>C (p.Glu1382Gln)
c.4141G>C (p.Glu1381Gln)
c.4021G>C (p.Glu1341Gln)
c.4117G>C (p.Glu1373Gln)
c.4063G>C (p.Glu1355Gln)
c.4024G>C (p.Glu1342Gln)
c.3973G>C (p.Glu1325Gln)
c.1105G>C (p.Glu369Gln)
18g.33743989G>TCA402190252ASXL3c.4144G>T (p.Glu1382Ter)
c.4141G>T (p.Glu1381Ter)
c.4021G>T (p.Glu1341Ter)
c.4117G>T (p.Glu1373Ter)
c.4063G>T (p.Glu1355Ter)
c.4024G>T (p.Glu1342Ter)
c.3973G>T (p.Glu1325Ter)
c.1105G>T (p.Glu369Ter)
18g.33743990A>CCA402190255ASXL3c.4145A>C (p.Glu1382Ala)
c.4142A>C (p.Glu1381Ala)
c.4022A>C (p.Glu1341Ala)
c.4118A>C (p.Glu1373Ala)
c.4064A>C (p.Glu1355Ala)
c.4025A>C (p.Glu1342Ala)
c.3974A>C (p.Glu1325Ala)
c.1106A>C (p.Glu369Ala)
18g.33743990A>GCA402190257ASXL3c.4145A>G (p.Glu1382Gly)
c.4142A>G (p.Glu1381Gly)
c.4022A>G (p.Glu1341Gly)
c.4118A>G (p.Glu1373Gly)
c.4064A>G (p.Glu1355Gly)
c.4025A>G (p.Glu1342Gly)
c.3974A>G (p.Glu1325Gly)
c.1106A>G (p.Glu369Gly)
18g.33743990A>TCA402190259ASXL3c.4145A>T (p.Glu1382Val)
c.4142A>T (p.Glu1381Val)
c.4022A>T (p.Glu1341Val)
c.4118A>T (p.Glu1373Val)
c.4064A>T (p.Glu1355Val)
c.4025A>T (p.Glu1342Val)
c.3974A>T (p.Glu1325Val)
c.1106A>T (p.Glu369Val)
18g.33743991A>CCA402190262ASXL3c.4146A>C (p.Glu1382Asp)
c.4143A>C (p.Glu1381Asp)
c.4023A>C (p.Glu1341Asp)
c.4119A>C (p.Glu1373Asp)
c.4065A>C (p.Glu1355Asp)
c.4026A>C (p.Glu1342Asp)
c.3975A>C (p.Glu1325Asp)
c.1107A>C (p.Glu369Asp)
18g.33743991A>GCA503769993ASXL3c.4146A>G (p.Glu1382=)
c.4143A>G (p.Glu1381=)
c.4023A>G (p.Glu1341=)
c.4119A>G (p.Glu1373=)
c.4065A>G (p.Glu1355=)
c.4026A>G (p.Glu1342=)
c.3975A>G (p.Glu1325=)
c.1107A>G (p.Glu369=)
18g.33743991A>TCA402190264ASXL3c.4146A>T (p.Glu1382Asp)
c.4143A>T (p.Glu1381Asp)
c.4023A>T (p.Glu1341Asp)
c.4119A>T (p.Glu1373Asp)
c.4065A>T (p.Glu1355Asp)
c.4026A>T (p.Glu1342Asp)
c.3975A>T (p.Glu1325Asp)
c.1107A>T (p.Glu369Asp)
18g.33743992C>ACA402190267ASXL3c.4147C>A (p.Gln1383Lys)
c.4144C>A (p.Gln1382Lys)
c.4024C>A (p.Gln1342Lys)
c.4120C>A (p.Gln1374Lys)
c.4066C>A (p.Gln1356Lys)
c.4027C>A (p.Gln1343Lys)
c.3976C>A (p.Gln1326Lys)
c.1108C>A (p.Gln370Lys)
18g.33743992C=CA2294857933ASXL3c.4147C= (p.Gln1383=)
c.4144C= (p.Gln1382=)
c.4024C= (p.Gln1342=)
c.4120C= (p.Gln1374=)
c.4066C= (p.Gln1356=)
c.4027C= (p.Gln1343=)
c.3976C= (p.Gln1326=)
c.1108C= (p.Gln370=)
18g.33743992C>GCA402190268ASXL3c.4147C>G (p.Gln1383Glu)
c.4144C>G (p.Gln1382Glu)
c.4024C>G (p.Gln1342Glu)
c.4120C>G (p.Gln1374Glu)
c.4066C>G (p.Gln1356Glu)
c.4027C>G (p.Gln1343Glu)
c.3976C>G (p.Gln1326Glu)
c.1108C>G (p.Gln370Glu)
18g.33743992C>TCA402190269ASXL3c.4147C>T (p.Gln1383Ter)
c.4144C>T (p.Gln1382Ter)
c.4024C>T (p.Gln1342Ter)
c.4120C>T (p.Gln1374Ter)
c.4066C>T (p.Gln1356Ter)
c.4027C>T (p.Gln1343Ter)
c.3976C>T (p.Gln1326Ter)
c.1108C>T (p.Gln370Ter)
 ClinVar dbSNP
18g.33743993A>CCA402190272ASXL3c.4148A>C (p.Gln1383Pro)
c.4145A>C (p.Gln1382Pro)
c.4025A>C (p.Gln1342Pro)
c.4121A>C (p.Gln1374Pro)
c.4067A>C (p.Gln1356Pro)
c.4028A>C (p.Gln1343Pro)
c.3977A>C (p.Gln1326Pro)
c.1109A>C (p.Gln370Pro)
18g.33743993A>GCA402190270ASXL3c.4148A>G (p.Gln1383Arg)
c.4145A>G (p.Gln1382Arg)
c.4025A>G (p.Gln1342Arg)
c.4121A>G (p.Gln1374Arg)
c.4067A>G (p.Gln1356Arg)
c.4028A>G (p.Gln1343Arg)
c.3977A>G (p.Gln1326Arg)
c.1109A>G (p.Gln370Arg)
18g.33743993A>TCA402190271ASXL3c.4148A>T (p.Gln1383Leu)
c.4145A>T (p.Gln1382Leu)
c.4025A>T (p.Gln1342Leu)
c.4121A>T (p.Gln1374Leu)
c.4067A>T (p.Gln1356Leu)
c.4028A>T (p.Gln1343Leu)
c.3977A>T (p.Gln1326Leu)
c.1109A>T (p.Gln370Leu)
18g.33743994G>ACA503770000ASXL3c.4149G>A (p.Gln1383=)
c.4146G>A (p.Gln1382=)
c.4026G>A (p.Gln1342=)
c.4122G>A (p.Gln1374=)
c.4068G>A (p.Gln1356=)
c.4029G>A (p.Gln1343=)
c.3978G>A (p.Gln1326=)
c.1110G>A (p.Gln370=)
18g.33743994G>CCA402190273ASXL3c.4149G>C (p.Gln1383His)
c.4146G>C (p.Gln1382His)
c.4026G>C (p.Gln1342His)
c.4122G>C (p.Gln1374His)
c.4068G>C (p.Gln1356His)
c.4029G>C (p.Gln1343His)
c.3978G>C (p.Gln1326His)
c.1110G>C (p.Gln370His)
18g.33743994G>TCA402190274ASXL3c.4149G>T (p.Gln1383His)
c.4146G>T (p.Gln1382His)
c.4026G>T (p.Gln1342His)
c.4122G>T (p.Gln1374His)
c.4068G>T (p.Gln1356His)
c.4029G>T (p.Gln1343His)
c.3978G>T (p.Gln1326His)
c.1110G>T (p.Gln370His)
18g.33743995G>ACA402190275ASXL3c.4150G>A (p.Ala1384Thr)
c.4147G>A (p.Ala1383Thr)
c.4027G>A (p.Ala1343Thr)
c.4123G>A (p.Ala1375Thr)
c.4069G>A (p.Ala1357Thr)
c.4030G>A (p.Ala1344Thr)
c.3979G>A (p.Ala1327Thr)
c.1111G>A (p.Ala371Thr)
18g.33743995G>CCA402190276ASXL3c.4150G>C (p.Ala1384Pro)
c.4147G>C (p.Ala1383Pro)
c.4027G>C (p.Ala1343Pro)
c.4123G>C (p.Ala1375Pro)
c.4069G>C (p.Ala1357Pro)
c.4030G>C (p.Ala1344Pro)
c.3979G>C (p.Ala1327Pro)
c.1111G>C (p.Ala371Pro)
18g.33743995G>TCA402190277ASXL3c.4150G>T (p.Ala1384Ser)
c.4147G>T (p.Ala1383Ser)
c.4027G>T (p.Ala1343Ser)
c.4123G>T (p.Ala1375Ser)
c.4069G>T (p.Ala1357Ser)
c.4030G>T (p.Ala1344Ser)
c.3979G>T (p.Ala1327Ser)
c.1111G>T (p.Ala371Ser)
18g.33743996C>ACA402190278ASXL3c.4151C>A (p.Ala1384Asp)
c.4148C>A (p.Ala1383Asp)
c.4028C>A (p.Ala1343Asp)
c.4124C>A (p.Ala1375Asp)
c.4070C>A (p.Ala1357Asp)
c.4031C>A (p.Ala1344Asp)
c.3980C>A (p.Ala1327Asp)
c.1112C>A (p.Ala371Asp)
18g.33743996C>GCA402190279ASXL3c.4151C>G (p.Ala1384Gly)
c.4148C>G (p.Ala1383Gly)
c.4028C>G (p.Ala1343Gly)
c.4124C>G (p.Ala1375Gly)
c.4070C>G (p.Ala1357Gly)
c.4031C>G (p.Ala1344Gly)
c.3980C>G (p.Ala1327Gly)
c.1112C>G (p.Ala371Gly)
18g.33743996C>TCA402190280ASXL3c.4151C>T (p.Ala1384Val)
c.4148C>T (p.Ala1383Val)
c.4028C>T (p.Ala1343Val)
c.4124C>T (p.Ala1375Val)
c.4070C>T (p.Ala1357Val)
c.4031C>T (p.Ala1344Val)
c.3980C>T (p.Ala1327Val)
c.1112C>T (p.Ala371Val)
 COSMIC
18g.33743997C>ACA503770008ASXL3c.4152C>A (p.Ala1384=)
c.4149C>A (p.Ala1383=)
c.4029C>A (p.Ala1343=)
c.4125C>A (p.Ala1375=)
c.4071C>A (p.Ala1357=)
c.4032C>A (p.Ala1344=)
c.3981C>A (p.Ala1327=)
c.1113C>A (p.Ala371=)
18g.33743997C>GCA503770009ASXL3c.4152C>G (p.Ala1384=)
c.4149C>G (p.Ala1383=)
c.4029C>G (p.Ala1343=)
c.4125C>G (p.Ala1375=)
c.4071C>G (p.Ala1357=)
c.4032C>G (p.Ala1344=)
c.3981C>G (p.Ala1327=)
c.1113C>G (p.Ala371=)
18g.33743997C>TCA503770010ASXL3c.4152C>T (p.Ala1384=)
c.4149C>T (p.Ala1383=)
c.4029C>T (p.Ala1343=)
c.4125C>T (p.Ala1375=)
c.4071C>T (p.Ala1357=)
c.4032C>T (p.Ala1344=)
c.3981C>T (p.Ala1327=)
c.1113C>T (p.Ala371=)
 gnomAD v4 COSMIC
18g.33743998A>CCA402190281ASXL3c.4153A>C (p.Thr1385Pro)
c.4150A>C (p.Thr1384Pro)
c.4030A>C (p.Thr1344Pro)
c.4126A>C (p.Thr1376Pro)
c.4072A>C (p.Thr1358Pro)
c.4033A>C (p.Thr1345Pro)
c.3982A>C (p.Thr1328Pro)
c.1114A>C (p.Thr372Pro)
18g.33743998A>GCA402190282ASXL3c.4153A>G (p.Thr1385Ala)
c.4150A>G (p.Thr1384Ala)
c.4030A>G (p.Thr1344Ala)
c.4126A>G (p.Thr1376Ala)
c.4072A>G (p.Thr1358Ala)
c.4033A>G (p.Thr1345Ala)
c.3982A>G (p.Thr1328Ala)
c.1114A>G (p.Thr372Ala)
18g.33743998A>TCA402190283ASXL3c.4153A>T (p.Thr1385Ser)
c.4150A>T (p.Thr1384Ser)
c.4030A>T (p.Thr1344Ser)
c.4126A>T (p.Thr1376Ser)
c.4072A>T (p.Thr1358Ser)
c.4033A>T (p.Thr1345Ser)
c.3982A>T (p.Thr1328Ser)
c.1114A>T (p.Thr372Ser)
18g.33743999C>ACA402190286ASXL3c.4154C>A (p.Thr1385Asn)
c.4151C>A (p.Thr1384Asn)
c.4031C>A (p.Thr1344Asn)
c.4127C>A (p.Thr1376Asn)
c.4073C>A (p.Thr1358Asn)
c.4034C>A (p.Thr1345Asn)
c.3983C>A (p.Thr1328Asn)
c.1115C>A (p.Thr372Asn)
18g.33743999C=CA2294857934ASXL3c.4154C= (p.Thr1385=)
c.4151C= (p.Thr1384=)
c.4031C= (p.Thr1344=)
c.4127C= (p.Thr1376=)
c.4073C= (p.Thr1358=)
c.4034C= (p.Thr1345=)
c.3983C= (p.Thr1328=)
c.1115C= (p.Thr372=)
18g.33743999C>GCA402190285ASXL3c.4154C>G (p.Thr1385Ser)
c.4151C>G (p.Thr1384Ser)
c.4031C>G (p.Thr1344Ser)
c.4127C>G (p.Thr1376Ser)
c.4073C>G (p.Thr1358Ser)
c.4034C>G (p.Thr1345Ser)
c.3983C>G (p.Thr1328Ser)
c.1115C>G (p.Thr372Ser)
 dbSNP
18g.33743999C>TCA402190284ASXL3c.4154C>T (p.Thr1385Ile)
c.4151C>T (p.Thr1384Ile)
c.4031C>T (p.Thr1344Ile)
c.4127C>T (p.Thr1376Ile)
c.4073C>T (p.Thr1358Ile)
c.4034C>T (p.Thr1345Ile)
c.3983C>T (p.Thr1328Ile)
c.1115C>T (p.Thr372Ile)
18g.33743999_33744001delinsCTGCA2294857935ASXL3c.4154_4156delinsCTG (p.Thr1385=)
c.4151_4153delinsCTG (p.Thr1384=)
c.4031_4033delinsCTG (p.Thr1344=)
c.4127_4129delinsCTG (p.Thr1376=)
c.4073_4075delinsCTG (p.Thr1358=)
c.4034_4036delinsCTG (p.Thr1345=)
c.3983_3985delinsCTG (p.Thr1328=)
c.1115_1117delinsCTG (p.Thr372=)
18g.33744000T>ACA503770015ASXL3c.4155T>A (p.Thr1385=)
c.4152T>A (p.Thr1384=)
c.4032T>A (p.Thr1344=)
c.4128T>A (p.Thr1376=)
c.4074T>A (p.Thr1358=)
c.4035T>A (p.Thr1345=)
c.3984T>A (p.Thr1328=)
c.1116T>A (p.Thr372=)
18g.33744000T>CCA503770020ASXL3c.4155T>C (p.Thr1385=)
c.4152T>C (p.Thr1384=)
c.4032T>C (p.Thr1344=)
c.4128T>C (p.Thr1376=)
c.4074T>C (p.Thr1358=)
c.4035T>C (p.Thr1345=)
c.3984T>C (p.Thr1328=)
c.1116T>C (p.Thr372=)
 dbSNP
18g.33744000T>GCA503770017ASXL3c.4155T>G (p.Thr1385=)
c.4152T>G (p.Thr1384=)
c.4032T>G (p.Thr1344=)
c.4128T>G (p.Thr1376=)
c.4074T>G (p.Thr1358=)
c.4035T>G (p.Thr1345=)
c.3984T>G (p.Thr1328=)
c.1116T>G (p.Thr372=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744000T=CA2294857936ASXL3c.4155T= (p.Thr1385=)
c.4152T= (p.Thr1384=)
c.4032T= (p.Thr1344=)
c.4128T= (p.Thr1376=)
c.4074T= (p.Thr1358=)
c.4035T= (p.Thr1345=)
c.3984T= (p.Thr1328=)
c.1116T= (p.Thr372=)
18g.33744001_33744002delCA915952506ASXL3c.4156_4157del (p.Val1386IlefsTer14)
c.4153_4154del (p.Val1385IlefsTer14)
c.4033_4034del (p.Val1345IlefsTer14)
c.4129_4130del (p.Val1377IlefsTer14)
c.4075_4076del (p.Val1359IlefsTer14)
c.4036_4037del (p.Val1346IlefsTer14)
c.3985_3986del (p.Val1329IlefsTer14)
c.1117_1118del (p.Val373IlefsTer14)
 ClinVar dbSNP
18g.33744001G>ACA402190287ASXL3c.4156G>A (p.Val1386Ile)
c.4153G>A (p.Val1385Ile)
c.4033G>A (p.Val1345Ile)
c.4129G>A (p.Val1377Ile)
c.4075G>A (p.Val1359Ile)
c.4036G>A (p.Val1346Ile)
c.3985G>A (p.Val1329Ile)
c.1117G>A (p.Val373Ile)
18g.33744001G>CCA402190289ASXL3c.4156G>C (p.Val1386Leu)
c.4153G>C (p.Val1385Leu)
c.4033G>C (p.Val1345Leu)
c.4129G>C (p.Val1377Leu)
c.4075G>C (p.Val1359Leu)
c.4036G>C (p.Val1346Leu)
c.3985G>C (p.Val1329Leu)
c.1117G>C (p.Val373Leu)
 gnomAD v4
18g.33744001G>TCA402190288ASXL3c.4156G>T (p.Val1386Leu)
c.4153G>T (p.Val1385Leu)
c.4033G>T (p.Val1345Leu)
c.4129G>T (p.Val1377Leu)
c.4075G>T (p.Val1359Leu)
c.4036G>T (p.Val1346Leu)
c.3985G>T (p.Val1329Leu)
c.1117G>T (p.Val373Leu)
18g.33744002T>ACA402190290ASXL3c.4157T>A (p.Val1386Glu)
c.4154T>A (p.Val1385Glu)
c.4034T>A (p.Val1345Glu)
c.4130T>A (p.Val1377Glu)
c.4076T>A (p.Val1359Glu)
c.4037T>A (p.Val1346Glu)
c.3986T>A (p.Val1329Glu)
c.1118T>A (p.Val373Glu)
 dbSNP gnomAD v2 gnomAD v4
18g.33744002T>CCA402190291ASXL3c.4157T>C (p.Val1386Ala)
c.4154T>C (p.Val1385Ala)
c.4034T>C (p.Val1345Ala)
c.4130T>C (p.Val1377Ala)
c.4076T>C (p.Val1359Ala)
c.4037T>C (p.Val1346Ala)
c.3986T>C (p.Val1329Ala)
c.1118T>C (p.Val373Ala)
 dbSNP gnomAD v2 gnomAD v4
18g.33744002T>GCA402190292ASXL3c.4157T>G (p.Val1386Gly)
c.4154T>G (p.Val1385Gly)
c.4034T>G (p.Val1345Gly)
c.4130T>G (p.Val1377Gly)
c.4076T>G (p.Val1359Gly)
c.4037T>G (p.Val1346Gly)
c.3986T>G (p.Val1329Gly)
c.1118T>G (p.Val373Gly)
18g.33744002T=CA2294857937ASXL3c.4157T= (p.Val1386=)
c.4154T= (p.Val1385=)
c.4034T= (p.Val1345=)
c.4130T= (p.Val1377=)
c.4076T= (p.Val1359=)
c.4037T= (p.Val1346=)
c.3986T= (p.Val1329=)
c.1118T= (p.Val373=)
18g.33744003A=CA2294857938ASXL3c.4158A= (p.Val1386=)
c.4155A= (p.Val1385=)
c.4035A= (p.Val1345=)
c.4131A= (p.Val1377=)
c.4077A= (p.Val1359=)
c.4038A= (p.Val1346=)
c.3987A= (p.Val1329=)
c.1119A= (p.Val373=)
18g.33744003A>CCA503770022ASXL3c.4158A>C (p.Val1386=)
c.4155A>C (p.Val1385=)
c.4035A>C (p.Val1345=)
c.4131A>C (p.Val1377=)
c.4077A>C (p.Val1359=)
c.4038A>C (p.Val1346=)
c.3987A>C (p.Val1329=)
c.1119A>C (p.Val373=)
18g.33744003A>GCA8934183ASXL3c.4158A>G (p.Val1386=)
c.4155A>G (p.Val1385=)
c.4035A>G (p.Val1345=)
c.4131A>G (p.Val1377=)
c.4077A>G (p.Val1359=)
c.4038A>G (p.Val1346=)
c.3987A>G (p.Val1329=)
c.1119A>G (p.Val373=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744003A>TCA503770024ASXL3c.4158A>T (p.Val1386=)
c.4155A>T (p.Val1385=)
c.4035A>T (p.Val1345=)
c.4131A>T (p.Val1377=)
c.4077A>T (p.Val1359=)
c.4038A>T (p.Val1346=)
c.3987A>T (p.Val1329=)
c.1119A>T (p.Val373=)
18g.33744003_33744004delinsATCA2294857939ASXL3c.4158_4159delinsAT (p.Val1386=)
c.4155_4156delinsAT (p.Val1385=)
c.4035_4036delinsAT (p.Val1345=)
c.4131_4132delinsAT (p.Val1377=)
c.4077_4078delinsAT (p.Val1359=)
c.4038_4039delinsAT (p.Val1346=)
c.3987_3988delinsAT (p.Val1329=)
c.1119_1120delinsAT (p.Val373=)
18g.33744004delCA1139666034ASXL3c.4159del (p.Ser1387ProfsTer6)
c.4156del (p.Ser1386ProfsTer6)
c.4036del (p.Ser1346ProfsTer6)
c.4132del (p.Ser1378ProfsTer6)
c.4078del (p.Ser1360ProfsTer6)
c.4039del (p.Ser1347ProfsTer6)
c.3988del (p.Ser1330ProfsTer6)
c.1120del (p.Ser374ProfsTer6)
 ClinVar dbSNP
18g.33744004T>ACA402190293ASXL3c.4159T>A (p.Ser1387Thr)
c.4156T>A (p.Ser1386Thr)
c.4036T>A (p.Ser1346Thr)
c.4132T>A (p.Ser1378Thr)
c.4078T>A (p.Ser1360Thr)
c.4039T>A (p.Ser1347Thr)
c.3988T>A (p.Ser1330Thr)
c.1120T>A (p.Ser374Thr)
18g.33744004T>CCA402190294ASXL3c.4159T>C (p.Ser1387Pro)
c.4156T>C (p.Ser1386Pro)
c.4036T>C (p.Ser1346Pro)
c.4132T>C (p.Ser1378Pro)
c.4078T>C (p.Ser1360Pro)
c.4039T>C (p.Ser1347Pro)
c.3988T>C (p.Ser1330Pro)
c.1120T>C (p.Ser374Pro)
18g.33744004T>GCA402190295ASXL3c.4159T>G (p.Ser1387Ala)
c.4156T>G (p.Ser1386Ala)
c.4036T>G (p.Ser1346Ala)
c.4132T>G (p.Ser1378Ala)
c.4078T>G (p.Ser1360Ala)
c.4039T>G (p.Ser1347Ala)
c.3988T>G (p.Ser1330Ala)
c.1120T>G (p.Ser374Ala)
18g.33744005C>ACA402190296ASXL3c.4160C>A (p.Ser1387Tyr)
c.4157C>A (p.Ser1386Tyr)
c.4037C>A (p.Ser1346Tyr)
c.4133C>A (p.Ser1378Tyr)
c.4079C>A (p.Ser1360Tyr)
c.4040C>A (p.Ser1347Tyr)
c.3989C>A (p.Ser1330Tyr)
c.1121C>A (p.Ser374Tyr)
18g.33744005C=CA2294857940ASXL3c.4160C= (p.Ser1387=)
c.4157C= (p.Ser1386=)
c.4037C= (p.Ser1346=)
c.4133C= (p.Ser1378=)
c.4079C= (p.Ser1360=)
c.4040C= (p.Ser1347=)
c.3989C= (p.Ser1330=)
c.1121C= (p.Ser374=)
18g.33744005C>GCA8934184ASXL3c.4160C>G (p.Ser1387Cys)
c.4157C>G (p.Ser1386Cys)
c.4037C>G (p.Ser1346Cys)
c.4133C>G (p.Ser1378Cys)
c.4079C>G (p.Ser1360Cys)
c.4040C>G (p.Ser1347Cys)
c.3989C>G (p.Ser1330Cys)
c.1121C>G (p.Ser374Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744005C>TCA402190297ASXL3c.4160C>T (p.Ser1387Phe)
c.4157C>T (p.Ser1386Phe)
c.4037C>T (p.Ser1346Phe)
c.4133C>T (p.Ser1378Phe)
c.4079C>T (p.Ser1360Phe)
c.4040C>T (p.Ser1347Phe)
c.3989C>T (p.Ser1330Phe)
c.1121C>T (p.Ser374Phe)
 gnomAD v4 COSMIC
18g.33744006C>ACA503770036ASXL3c.4161C>A (p.Ser1387=)
c.4158C>A (p.Ser1386=)
c.4038C>A (p.Ser1346=)
c.4134C>A (p.Ser1378=)
c.4080C>A (p.Ser1360=)
c.4041C>A (p.Ser1347=)
c.3990C>A (p.Ser1330=)
c.1122C>A (p.Ser374=)
18g.33744006C>GCA503770038ASXL3c.4161C>G (p.Ser1387=)
c.4158C>G (p.Ser1386=)
c.4038C>G (p.Ser1346=)
c.4134C>G (p.Ser1378=)
c.4080C>G (p.Ser1360=)
c.4041C>G (p.Ser1347=)
c.3990C>G (p.Ser1330=)
c.1122C>G (p.Ser374=)
18g.33744006C>TCA503770040ASXL3c.4161C>T (p.Ser1387=)
c.4158C>T (p.Ser1386=)
c.4038C>T (p.Ser1346=)
c.4134C>T (p.Ser1378=)
c.4080C>T (p.Ser1360=)
c.4041C>T (p.Ser1347=)
c.3990C>T (p.Ser1330=)
c.1122C>T (p.Ser374=)
 gnomAD v4
18g.33744007A>CCA402190300ASXL3c.4162A>C (p.Met1388Leu)
c.4159A>C (p.Met1387Leu)
c.4039A>C (p.Met1347Leu)
c.4135A>C (p.Met1379Leu)
c.4081A>C (p.Met1361Leu)
c.4042A>C (p.Met1348Leu)
c.3991A>C (p.Met1331Leu)
c.1123A>C (p.Met375Leu)
 gnomAD v4
18g.33744007A>GCA402190299ASXL3c.4162A>G (p.Met1388Val)
c.4159A>G (p.Met1387Val)
c.4039A>G (p.Met1347Val)
c.4135A>G (p.Met1379Val)
c.4081A>G (p.Met1361Val)
c.4042A>G (p.Met1348Val)
c.3991A>G (p.Met1331Val)
c.1123A>G (p.Met375Val)
 gnomAD v4
18g.33744007A>TCA402190298ASXL3c.4162A>T (p.Met1388Leu)
c.4159A>T (p.Met1387Leu)
c.4039A>T (p.Met1347Leu)
c.4135A>T (p.Met1379Leu)
c.4081A>T (p.Met1361Leu)
c.4042A>T (p.Met1348Leu)
c.3991A>T (p.Met1331Leu)
c.1123A>T (p.Met375Leu)
18g.33744008T>ACA402190301ASXL3c.4163T>A (p.Met1388Lys)
c.4160T>A (p.Met1387Lys)
c.4040T>A (p.Met1347Lys)
c.4136T>A (p.Met1379Lys)
c.4082T>A (p.Met1361Lys)
c.4043T>A (p.Met1348Lys)
c.3992T>A (p.Met1331Lys)
c.1124T>A (p.Met375Lys)
18g.33744008T>CCA8934185ASXL3c.4163T>C (p.Met1388Thr)
c.4160T>C (p.Met1387Thr)
c.4040T>C (p.Met1347Thr)
c.4136T>C (p.Met1379Thr)
c.4082T>C (p.Met1361Thr)
c.4043T>C (p.Met1348Thr)
c.3992T>C (p.Met1331Thr)
c.1124T>C (p.Met375Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744008T>GCA402190302ASXL3c.4163T>G (p.Met1388Arg)
c.4160T>G (p.Met1387Arg)
c.4040T>G (p.Met1347Arg)
c.4136T>G (p.Met1379Arg)
c.4082T>G (p.Met1361Arg)
c.4043T>G (p.Met1348Arg)
c.3992T>G (p.Met1331Arg)
c.1124T>G (p.Met375Arg)
18g.33744008T=CA2294857941ASXL3c.4163T= (p.Met1388=)
c.4160T= (p.Met1387=)
c.4040T= (p.Met1347=)
c.4136T= (p.Met1379=)
c.4082T= (p.Met1361=)
c.4043T= (p.Met1348=)
c.3992T= (p.Met1331=)
c.1124T= (p.Met375=)
18g.33744009G>ACA402190303ASXL3c.4164G>A (p.Met1388Ile)
c.4161G>A (p.Met1387Ile)
c.4041G>A (p.Met1347Ile)
c.4137G>A (p.Met1379Ile)
c.4083G>A (p.Met1361Ile)
c.4044G>A (p.Met1348Ile)
c.3993G>A (p.Met1331Ile)
c.1125G>A (p.Met375Ile)
 dbSNP gnomAD v4
18g.33744009G>CCA402190304ASXL3c.4164G>C (p.Met1388Ile)
c.4161G>C (p.Met1387Ile)
c.4041G>C (p.Met1347Ile)
c.4137G>C (p.Met1379Ile)
c.4083G>C (p.Met1361Ile)
c.4044G>C (p.Met1348Ile)
c.3993G>C (p.Met1331Ile)
c.1125G>C (p.Met375Ile)
18g.33744009G=CA2294857942ASXL3c.4164G= (p.Met1388=)
c.4161G= (p.Met1387=)
c.4041G= (p.Met1347=)
c.4137G= (p.Met1379=)
c.4083G= (p.Met1361=)
c.4044G= (p.Met1348=)
c.3993G= (p.Met1331=)
c.1125G= (p.Met375=)
18g.33744009G>TCA402190305ASXL3c.4164G>T (p.Met1388Ile)
c.4161G>T (p.Met1387Ile)
c.4041G>T (p.Met1347Ile)
c.4137G>T (p.Met1379Ile)
c.4083G>T (p.Met1361Ile)
c.4044G>T (p.Met1348Ile)
c.3993G>T (p.Met1331Ile)
c.1125G>T (p.Met375Ile)
 gnomAD v4
18g.33744010G>ACA402190306ASXL3c.4165G>A (p.Gly1389Ser)
c.4162G>A (p.Gly1388Ser)
c.4042G>A (p.Gly1348Ser)
c.4138G>A (p.Gly1380Ser)
c.4084G>A (p.Gly1362Ser)
c.4045G>A (p.Gly1349Ser)
c.3994G>A (p.Gly1332Ser)
c.1126G>A (p.Gly376Ser)
18g.33744010G>CCA402190307ASXL3c.4165G>C (p.Gly1389Arg)
c.4162G>C (p.Gly1388Arg)
c.4042G>C (p.Gly1348Arg)
c.4138G>C (p.Gly1380Arg)
c.4084G>C (p.Gly1362Arg)
c.4045G>C (p.Gly1349Arg)
c.3994G>C (p.Gly1332Arg)
c.1126G>C (p.Gly376Arg)
 dbSNP gnomAD v3 gnomAD v4
18g.33744010G=CA2294857943ASXL3c.4165G= (p.Gly1389=)
c.4162G= (p.Gly1388=)
c.4042G= (p.Gly1348=)
c.4138G= (p.Gly1380=)
c.4084G= (p.Gly1362=)
c.4045G= (p.Gly1349=)
c.3994G= (p.Gly1332=)
c.1126G= (p.Gly376=)
18g.33744010G>TCA402190308ASXL3c.4165G>T (p.Gly1389Cys)
c.4162G>T (p.Gly1388Cys)
c.4042G>T (p.Gly1348Cys)
c.4138G>T (p.Gly1380Cys)
c.4084G>T (p.Gly1362Cys)
c.4045G>T (p.Gly1349Cys)
c.3994G>T (p.Gly1332Cys)
c.1126G>T (p.Gly376Cys)
18g.33744011G>ACA8934186ASXL3c.4166G>A (p.Gly1389Asp)
c.4163G>A (p.Gly1388Asp)
c.4043G>A (p.Gly1348Asp)
c.4139G>A (p.Gly1380Asp)
c.4085G>A (p.Gly1362Asp)
c.4046G>A (p.Gly1349Asp)
c.3995G>A (p.Gly1332Asp)
c.1127G>A (p.Gly376Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744011G>CCA402190309ASXL3c.4166G>C (p.Gly1389Ala)
c.4163G>C (p.Gly1388Ala)
c.4043G>C (p.Gly1348Ala)
c.4139G>C (p.Gly1380Ala)
c.4085G>C (p.Gly1362Ala)
c.4046G>C (p.Gly1349Ala)
c.3995G>C (p.Gly1332Ala)
c.1127G>C (p.Gly376Ala)
18g.33744011G=CA2294857944ASXL3c.4166G= (p.Gly1389=)
c.4163G= (p.Gly1388=)
c.4043G= (p.Gly1348=)
c.4139G= (p.Gly1380=)
c.4085G= (p.Gly1362=)
c.4046G= (p.Gly1349=)
c.3995G= (p.Gly1332=)
c.1127G= (p.Gly376=)
18g.33744011G>TCA8934187ASXL3c.4166G>T (p.Gly1389Val)
c.4163G>T (p.Gly1388Val)
c.4043G>T (p.Gly1348Val)
c.4139G>T (p.Gly1380Val)
c.4085G>T (p.Gly1362Val)
c.4046G>T (p.Gly1349Val)
c.3995G>T (p.Gly1332Val)
c.1127G>T (p.Gly376Val)
 dbSNP ExAC gnomAD v2
18g.33744012T>ACA503770053ASXL3c.4167T>A (p.Gly1389=)
c.4164T>A (p.Gly1388=)
c.4044T>A (p.Gly1348=)
c.4140T>A (p.Gly1380=)
c.4086T>A (p.Gly1362=)
c.4047T>A (p.Gly1349=)
c.3996T>A (p.Gly1332=)
c.1128T>A (p.Gly376=)
18g.33744012T>CCA503770055ASXL3c.4167T>C (p.Gly1389=)
c.4164T>C (p.Gly1388=)
c.4044T>C (p.Gly1348=)
c.4140T>C (p.Gly1380=)
c.4086T>C (p.Gly1362=)
c.4047T>C (p.Gly1349=)
c.3996T>C (p.Gly1332=)
c.1128T>C (p.Gly376=)
18g.33744012T>GCA503770057ASXL3c.4167T>G (p.Gly1389=)
c.4164T>G (p.Gly1388=)
c.4044T>G (p.Gly1348=)
c.4140T>G (p.Gly1380=)
c.4086T>G (p.Gly1362=)
c.4047T>G (p.Gly1349=)
c.3996T>G (p.Gly1332=)
c.1128T>G (p.Gly376=)
18g.33744012dupCA1139666035ASXL3c.4167dup (p.Thr1390TyrfsTer11)
c.4164dup (p.Thr1389TyrfsTer11)
c.4044dup (p.Thr1349TyrfsTer11)
c.4140dup (p.Thr1381TyrfsTer11)
c.4086dup (p.Thr1363TyrfsTer11)
c.4047dup (p.Thr1350TyrfsTer11)
c.3996dup (p.Thr1333TyrfsTer11)
c.1128dup (p.Thr377TyrfsTer11)
 ClinVar dbSNP
18g.33744013A>CCA402190311ASXL3c.4168A>C (p.Thr1390Pro)
c.4165A>C (p.Thr1389Pro)
c.4045A>C (p.Thr1349Pro)
c.4141A>C (p.Thr1381Pro)
c.4087A>C (p.Thr1363Pro)
c.4048A>C (p.Thr1350Pro)
c.3997A>C (p.Thr1333Pro)
c.1129A>C (p.Thr377Pro)
18g.33744013A>GCA402190312ASXL3c.4168A>G (p.Thr1390Ala)
c.4165A>G (p.Thr1389Ala)
c.4045A>G (p.Thr1349Ala)
c.4141A>G (p.Thr1381Ala)
c.4087A>G (p.Thr1363Ala)
c.4048A>G (p.Thr1350Ala)
c.3997A>G (p.Thr1333Ala)
c.1129A>G (p.Thr377Ala)
18g.33744013A>TCA402190310ASXL3c.4168A>T (p.Thr1390Ser)
c.4165A>T (p.Thr1389Ser)
c.4045A>T (p.Thr1349Ser)
c.4141A>T (p.Thr1381Ser)
c.4087A>T (p.Thr1363Ser)
c.4048A>T (p.Thr1350Ser)
c.3997A>T (p.Thr1333Ser)
c.1129A>T (p.Thr377Ser)
18g.33744014C>ACA402190313ASXL3c.4169C>A (p.Thr1390Asn)
c.4166C>A (p.Thr1389Asn)
c.4046C>A (p.Thr1349Asn)
c.4142C>A (p.Thr1381Asn)
c.4088C>A (p.Thr1363Asn)
c.4049C>A (p.Thr1350Asn)
c.3998C>A (p.Thr1333Asn)
c.1130C>A (p.Thr377Asn)
18g.33744014C=CA2294857945ASXL3c.4169C= (p.Thr1390=)
c.4166C= (p.Thr1389=)
c.4046C= (p.Thr1349=)
c.4142C= (p.Thr1381=)
c.4088C= (p.Thr1363=)
c.4049C= (p.Thr1350=)
c.3998C= (p.Thr1333=)
c.1130C= (p.Thr377=)
18g.33744014C>GCA402190314ASXL3c.4169C>G (p.Thr1390Ser)
c.4166C>G (p.Thr1389Ser)
c.4046C>G (p.Thr1349Ser)
c.4142C>G (p.Thr1381Ser)
c.4088C>G (p.Thr1363Ser)
c.4049C>G (p.Thr1350Ser)
c.3998C>G (p.Thr1333Ser)
c.1130C>G (p.Thr377Ser)
18g.33744014C>TCA402190315ASXL3c.4169C>T (p.Thr1390Ile)
c.4166C>T (p.Thr1389Ile)
c.4046C>T (p.Thr1349Ile)
c.4142C>T (p.Thr1381Ile)
c.4088C>T (p.Thr1363Ile)
c.4049C>T (p.Thr1350Ile)
c.3998C>T (p.Thr1333Ile)
c.1130C>T (p.Thr377Ile)
 dbSNP gnomAD v4
18g.33744014_33744015delinsAACA645603031ASXL3c.4169_4170delinsAA (p.Thr1390Lys)
c.4166_4167delinsAA (p.Thr1389Lys)
c.4046_4047delinsAA (p.Thr1349Lys)
c.4142_4143delinsAA (p.Thr1381Lys)
c.4088_4089delinsAA (p.Thr1363Lys)
c.4049_4050delinsAA (p.Thr1350Lys)
c.3998_3999delinsAA (p.Thr1333Lys)
c.1130_1131delinsAA (p.Thr377Lys)
 COSMIC
18g.33744015C>ACA503770063ASXL3c.4170C>A (p.Thr1390=)
c.4167C>A (p.Thr1389=)
c.4047C>A (p.Thr1349=)
c.4143C>A (p.Thr1381=)
c.4089C>A (p.Thr1363=)
c.4050C>A (p.Thr1350=)
c.3999C>A (p.Thr1333=)
c.1131C>A (p.Thr377=)
 dbSNP gnomAD v2 gnomAD v4
18g.33744015C=CA2294857946ASXL3c.4170C= (p.Thr1390=)
c.4167C= (p.Thr1389=)
c.4047C= (p.Thr1349=)
c.4143C= (p.Thr1381=)
c.4089C= (p.Thr1363=)
c.4050C= (p.Thr1350=)
c.3999C= (p.Thr1333=)
c.1131C= (p.Thr377=)
18g.33744015C>GCA503770065ASXL3c.4170C>G (p.Thr1390=)
c.4167C>G (p.Thr1389=)
c.4047C>G (p.Thr1349=)
c.4143C>G (p.Thr1381=)
c.4089C>G (p.Thr1363=)
c.4050C>G (p.Thr1350=)
c.3999C>G (p.Thr1333=)
c.1131C>G (p.Thr377=)
18g.33744015C>TCA297793403ASXL3c.4170C>T (p.Thr1390=)
c.4167C>T (p.Thr1389=)
c.4047C>T (p.Thr1349=)
c.4143C>T (p.Thr1381=)
c.4089C>T (p.Thr1363=)
c.4050C>T (p.Thr1350=)
c.3999C>T (p.Thr1333=)
c.1131C>T (p.Thr377=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744016A>CCA402190316ASXL3c.4171A>C (p.Thr1391Pro)
c.4168A>C (p.Thr1390Pro)
c.4048A>C (p.Thr1350Pro)
c.4144A>C (p.Thr1382Pro)
c.4090A>C (p.Thr1364Pro)
c.4051A>C (p.Thr1351Pro)
c.4000A>C (p.Thr1334Pro)
c.1132A>C (p.Thr378Pro)
18g.33744016A>GCA402190317ASXL3c.4171A>G (p.Thr1391Ala)
c.4168A>G (p.Thr1390Ala)
c.4048A>G (p.Thr1350Ala)
c.4144A>G (p.Thr1382Ala)
c.4090A>G (p.Thr1364Ala)
c.4051A>G (p.Thr1351Ala)
c.4000A>G (p.Thr1334Ala)
c.1132A>G (p.Thr378Ala)
18g.33744016A>TCA402190318ASXL3c.4171A>T (p.Thr1391Ser)
c.4168A>T (p.Thr1390Ser)
c.4048A>T (p.Thr1350Ser)
c.4144A>T (p.Thr1382Ser)
c.4090A>T (p.Thr1364Ser)
c.4051A>T (p.Thr1351Ser)
c.4000A>T (p.Thr1334Ser)
c.1132A>T (p.Thr378Ser)
18g.33744017C>ACA402190319ASXL3c.4172C>A (p.Thr1391Asn)
c.4169C>A (p.Thr1390Asn)
c.4049C>A (p.Thr1350Asn)
c.4145C>A (p.Thr1382Asn)
c.4091C>A (p.Thr1364Asn)
c.4052C>A (p.Thr1351Asn)
c.4001C>A (p.Thr1334Asn)
c.1133C>A (p.Thr378Asn)
18g.33744017C=CA2294857947ASXL3c.4172C= (p.Thr1391=)
c.4169C= (p.Thr1390=)
c.4049C= (p.Thr1350=)
c.4145C= (p.Thr1382=)
c.4091C= (p.Thr1364=)
c.4052C= (p.Thr1351=)
c.4001C= (p.Thr1334=)
c.1133C= (p.Thr378=)
18g.33744017C>GCA402190320ASXL3c.4172C>G (p.Thr1391Ser)
c.4169C>G (p.Thr1390Ser)
c.4049C>G (p.Thr1350Ser)
c.4145C>G (p.Thr1382Ser)
c.4091C>G (p.Thr1364Ser)
c.4052C>G (p.Thr1351Ser)
c.4001C>G (p.Thr1334Ser)
c.1133C>G (p.Thr378Ser)
18g.33744017C>TCA8934188ASXL3c.4172C>T (p.Thr1391Ile)
c.4169C>T (p.Thr1390Ile)
c.4049C>T (p.Thr1350Ile)
c.4145C>T (p.Thr1382Ile)
c.4091C>T (p.Thr1364Ile)
c.4052C>T (p.Thr1351Ile)
c.4001C>T (p.Thr1334Ile)
c.1133C>T (p.Thr378Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744018T>ACA503770072ASXL3c.4173T>A (p.Thr1391=)
c.4170T>A (p.Thr1390=)
c.4050T>A (p.Thr1350=)
c.4146T>A (p.Thr1382=)
c.4092T>A (p.Thr1364=)
c.4053T>A (p.Thr1351=)
c.4002T>A (p.Thr1334=)
c.1134T>A (p.Thr378=)
18g.33744018T>CCA8934189ASXL3c.4173T>C (p.Thr1391=)
c.4170T>C (p.Thr1390=)
c.4050T>C (p.Thr1350=)
c.4146T>C (p.Thr1382=)
c.4092T>C (p.Thr1364=)
c.4053T>C (p.Thr1351=)
c.4002T>C (p.Thr1334=)
c.1134T>C (p.Thr378=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744018T>GCA503770073ASXL3c.4173T>G (p.Thr1391=)
c.4170T>G (p.Thr1390=)
c.4050T>G (p.Thr1350=)
c.4146T>G (p.Thr1382=)
c.4092T>G (p.Thr1364=)
c.4053T>G (p.Thr1351=)
c.4002T>G (p.Thr1334=)
c.1134T>G (p.Thr378=)
18g.33744018T=CA2294857948ASXL3c.4173T= (p.Thr1391=)
c.4170T= (p.Thr1390=)
c.4050T= (p.Thr1350=)
c.4146T= (p.Thr1382=)
c.4092T= (p.Thr1364=)
c.4053T= (p.Thr1351=)
c.4002T= (p.Thr1334=)
c.1134T= (p.Thr378=)
18g.33744018dupCA658653631ASXL3c.4173dup (p.Val1392CysfsTer9)
c.4170dup (p.Val1391CysfsTer9)
c.4050dup (p.Val1351CysfsTer9)
c.4146dup (p.Val1383CysfsTer9)
c.4092dup (p.Val1365CysfsTer9)
c.4053dup (p.Val1352CysfsTer9)
c.4002dup (p.Val1335CysfsTer9)
c.1134dup (p.Val379CysfsTer9)
 dbSNP
18g.33744020_33744021delCA2695227402ASXL3c.4175_4176del (p.Val1392GlufsTer8)
c.4172_4173del (p.Val1391GlufsTer8)
c.4052_4053del (p.Val1351GlufsTer8)
c.4148_4149del (p.Val1383GlufsTer8)
c.4094_4095del (p.Val1365GlufsTer8)
c.4055_4056del (p.Val1352GlufsTer8)
c.4004_4005del (p.Val1335GlufsTer8)
c.1136_1137del (p.Val379GlufsTer8)
18g.33744019G>ACA402190321ASXL3c.4174G>A (p.Val1392Met)
c.4171G>A (p.Val1391Met)
c.4051G>A (p.Val1351Met)
c.4147G>A (p.Val1383Met)
c.4093G>A (p.Val1365Met)
c.4054G>A (p.Val1352Met)
c.4003G>A (p.Val1335Met)
c.1135G>A (p.Val379Met)
 gnomAD v4
18g.33744019G>CCA402190322ASXL3c.4174G>C (p.Val1392Leu)
c.4171G>C (p.Val1391Leu)
c.4051G>C (p.Val1351Leu)
c.4147G>C (p.Val1383Leu)
c.4093G>C (p.Val1365Leu)
c.4054G>C (p.Val1352Leu)
c.4003G>C (p.Val1335Leu)
c.1135G>C (p.Val379Leu)
 dbSNP
18g.33744019G=CA2294857949ASXL3c.4174G= (p.Val1392=)
c.4171G= (p.Val1391=)
c.4051G= (p.Val1351=)
c.4147G= (p.Val1383=)
c.4093G= (p.Val1365=)
c.4054G= (p.Val1352=)
c.4003G= (p.Val1335=)
c.1135G= (p.Val379=)
18g.33744019G>TCA402190323ASXL3c.4174G>T (p.Val1392Leu)
c.4171G>T (p.Val1391Leu)
c.4051G>T (p.Val1351Leu)
c.4147G>T (p.Val1383Leu)
c.4093G>T (p.Val1365Leu)
c.4054G>T (p.Val1352Leu)
c.4003G>T (p.Val1335Leu)
c.1135G>T (p.Val379Leu)
18g.33744020T>ACA402190324ASXL3c.4175T>A (p.Val1392Glu)
c.4172T>A (p.Val1391Glu)
c.4052T>A (p.Val1351Glu)
c.4148T>A (p.Val1383Glu)
c.4094T>A (p.Val1365Glu)
c.4055T>A (p.Val1352Glu)
c.4004T>A (p.Val1335Glu)
c.1136T>A (p.Val379Glu)
 gnomAD v4
18g.33744020T>CCA402190327ASXL3c.4175T>C (p.Val1392Ala)
c.4172T>C (p.Val1391Ala)
c.4052T>C (p.Val1351Ala)
c.4148T>C (p.Val1383Ala)
c.4094T>C (p.Val1365Ala)
c.4055T>C (p.Val1352Ala)
c.4004T>C (p.Val1335Ala)
c.1136T>C (p.Val379Ala)
18g.33744020T>GCA402190325ASXL3c.4175T>G (p.Val1392Gly)
c.4172T>G (p.Val1391Gly)
c.4052T>G (p.Val1351Gly)
c.4148T>G (p.Val1383Gly)
c.4094T>G (p.Val1365Gly)
c.4055T>G (p.Val1352Gly)
c.4004T>G (p.Val1335Gly)
c.1136T>G (p.Val379Gly)
 gnomAD v4
18g.33744021G>ACA503770075ASXL3c.4176G>A (p.Val1392=)
c.4173G>A (p.Val1391=)
c.4053G>A (p.Val1351=)
c.4149G>A (p.Val1383=)
c.4095G>A (p.Val1365=)
c.4056G>A (p.Val1352=)
c.4005G>A (p.Val1335=)
c.1137G>A (p.Val379=)
 gnomAD v4
18g.33744021G>CCA503770076ASXL3c.4176G>C (p.Val1392=)
c.4173G>C (p.Val1391=)
c.4053G>C (p.Val1351=)
c.4149G>C (p.Val1383=)
c.4095G>C (p.Val1365=)
c.4056G>C (p.Val1352=)
c.4005G>C (p.Val1335=)
c.1137G>C (p.Val379=)
18g.33744021G>TCA503770079ASXL3c.4176G>T (p.Val1392=)
c.4173G>T (p.Val1391=)
c.4053G>T (p.Val1351=)
c.4149G>T (p.Val1383=)
c.4095G>T (p.Val1365=)
c.4056G>T (p.Val1352=)
c.4005G>T (p.Val1335=)
c.1137G>T (p.Val379=)
18g.33744022A=CA2294857950ASXL3c.4177A= (p.Arg1393=)
c.4174A= (p.Arg1392=)
c.4054A= (p.Arg1352=)
c.4150A= (p.Arg1384=)
c.4096A= (p.Arg1366=)
c.4057A= (p.Arg1353=)
c.4006A= (p.Arg1336=)
c.1138A= (p.Arg380=)
18g.33744022A>CCA503770082ASXL3c.4177A>C (p.Arg1393=)
c.4174A>C (p.Arg1392=)
c.4054A>C (p.Arg1352=)
c.4150A>C (p.Arg1384=)
c.4096A>C (p.Arg1366=)
c.4057A>C (p.Arg1353=)
c.4006A>C (p.Arg1336=)
c.1138A>C (p.Arg380=)
18g.33744022A>GCA297793413ASXL3c.4177A>G (p.Arg1393Gly)
c.4174A>G (p.Arg1392Gly)
c.4054A>G (p.Arg1352Gly)
c.4150A>G (p.Arg1384Gly)
c.4096A>G (p.Arg1366Gly)
c.4057A>G (p.Arg1353Gly)
c.4006A>G (p.Arg1336Gly)
c.1138A>G (p.Arg380Gly)
 dbSNP gnomAD v3 gnomAD v4
18g.33744022A>TCA402190330ASXL3c.4177A>T (p.Arg1393Ter)
c.4174A>T (p.Arg1392Ter)
c.4054A>T (p.Arg1352Ter)
c.4150A>T (p.Arg1384Ter)
c.4096A>T (p.Arg1366Ter)
c.4057A>T (p.Arg1353Ter)
c.4006A>T (p.Arg1336Ter)
c.1138A>T (p.Arg380Ter)
18g.33744023G>ACA402190333ASXL3c.4178G>A (p.Arg1393Lys)
c.4175G>A (p.Arg1392Lys)
c.4055G>A (p.Arg1352Lys)
c.4151G>A (p.Arg1384Lys)
c.4097G>A (p.Arg1366Lys)
c.4058G>A (p.Arg1353Lys)
c.4007G>A (p.Arg1336Lys)
c.1139G>A (p.Arg380Lys)
 dbSNP
18g.33744023G>CCA402190335ASXL3c.4178G>C (p.Arg1393Thr)
c.4175G>C (p.Arg1392Thr)
c.4055G>C (p.Arg1352Thr)
c.4151G>C (p.Arg1384Thr)
c.4097G>C (p.Arg1366Thr)
c.4058G>C (p.Arg1353Thr)
c.4007G>C (p.Arg1336Thr)
c.1139G>C (p.Arg380Thr)
 dbSNP gnomAD v3 gnomAD v4
18g.33744023G=CA2294857951ASXL3c.4178G= (p.Arg1393=)
c.4175G= (p.Arg1392=)
c.4055G= (p.Arg1352=)
c.4151G= (p.Arg1384=)
c.4097G= (p.Arg1366=)
c.4058G= (p.Arg1353=)
c.4007G= (p.Arg1336=)
c.1139G= (p.Arg380=)
18g.33744023G>TCA402190337ASXL3c.4178G>T (p.Arg1393Ile)
c.4175G>T (p.Arg1392Ile)
c.4055G>T (p.Arg1352Ile)
c.4151G>T (p.Arg1384Ile)
c.4097G>T (p.Arg1366Ile)
c.4058G>T (p.Arg1353Ile)
c.4007G>T (p.Arg1336Ile)
c.1139G>T (p.Arg380Ile)
18g.33744024A=CA2294857952ASXL3c.4179A= (p.Arg1393=)
c.4176A= (p.Arg1392=)
c.4056A= (p.Arg1352=)
c.4152A= (p.Arg1384=)
c.4098A= (p.Arg1366=)
c.4059A= (p.Arg1353=)
c.4008A= (p.Arg1336=)
c.1140A= (p.Arg380=)
18g.33744024A>CCA402190339ASXL3c.4179A>C (p.Arg1393Ser)
c.4176A>C (p.Arg1392Ser)
c.4056A>C (p.Arg1352Ser)
c.4152A>C (p.Arg1384Ser)
c.4098A>C (p.Arg1366Ser)
c.4059A>C (p.Arg1353Ser)
c.4008A>C (p.Arg1336Ser)
c.1140A>C (p.Arg380Ser)
 dbSNP gnomAD v2
18g.33744024A>GCA503770095ASXL3c.4179A>G (p.Arg1393=)
c.4176A>G (p.Arg1392=)
c.4056A>G (p.Arg1352=)
c.4152A>G (p.Arg1384=)
c.4098A>G (p.Arg1366=)
c.4059A>G (p.Arg1353=)
c.4008A>G (p.Arg1336=)
c.1140A>G (p.Arg380=)
 dbSNP gnomAD v3 gnomAD v4
18g.33744024A>TCA402190341ASXL3c.4179A>T (p.Arg1393Ser)
c.4176A>T (p.Arg1392Ser)
c.4056A>T (p.Arg1352Ser)
c.4152A>T (p.Arg1384Ser)
c.4098A>T (p.Arg1366Ser)
c.4059A>T (p.Arg1353Ser)
c.4008A>T (p.Arg1336Ser)
c.1140A>T (p.Arg380Ser)
18g.33744025G>ACA402190342ASXL3c.4180G>A (p.Ala1394Thr)
c.4177G>A (p.Ala1393Thr)
c.4057G>A (p.Ala1353Thr)
c.4153G>A (p.Ala1385Thr)
c.4099G>A (p.Ala1367Thr)
c.4060G>A (p.Ala1354Thr)
c.4009G>A (p.Ala1337Thr)
c.1141G>A (p.Ala381Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.33744025G>CCA402190343ASXL3c.4180G>C (p.Ala1394Pro)
c.4177G>C (p.Ala1393Pro)
c.4057G>C (p.Ala1353Pro)
c.4153G>C (p.Ala1385Pro)
c.4099G>C (p.Ala1367Pro)
c.4060G>C (p.Ala1354Pro)
c.4009G>C (p.Ala1337Pro)
c.1141G>C (p.Ala381Pro)
18g.33744025G=CA2294857953ASXL3c.4180G= (p.Ala1394=)
c.4177G= (p.Ala1393=)
c.4057G= (p.Ala1353=)
c.4153G= (p.Ala1385=)
c.4099G= (p.Ala1367=)
c.4060G= (p.Ala1354=)
c.4009G= (p.Ala1337=)
c.1141G= (p.Ala381=)
18g.33744025G>TCA402190345ASXL3c.4180G>T (p.Ala1394Ser)
c.4177G>T (p.Ala1393Ser)
c.4057G>T (p.Ala1353Ser)
c.4153G>T (p.Ala1385Ser)
c.4099G>T (p.Ala1367Ser)
c.4060G>T (p.Ala1354Ser)
c.4009G>T (p.Ala1337Ser)
c.1141G>T (p.Ala381Ser)
18g.33744026C>ACA402190347ASXL3c.4181C>A (p.Ala1394Glu)
c.4178C>A (p.Ala1393Glu)
c.4058C>A (p.Ala1353Glu)
c.4154C>A (p.Ala1385Glu)
c.4100C>A (p.Ala1367Glu)
c.4061C>A (p.Ala1354Glu)
c.4010C>A (p.Ala1337Glu)
c.1142C>A (p.Ala381Glu)
18g.33744026C=CA2294857954ASXL3c.4181C= (p.Ala1394=)
c.4178C= (p.Ala1393=)
c.4058C= (p.Ala1353=)
c.4154C= (p.Ala1385=)
c.4100C= (p.Ala1367=)
c.4061C= (p.Ala1354=)
c.4010C= (p.Ala1337=)
c.1142C= (p.Ala381=)
18g.33744026C>GCA402190349ASXL3c.4181C>G (p.Ala1394Gly)
c.4178C>G (p.Ala1393Gly)
c.4058C>G (p.Ala1353Gly)
c.4154C>G (p.Ala1385Gly)
c.4100C>G (p.Ala1367Gly)
c.4061C>G (p.Ala1354Gly)
c.4010C>G (p.Ala1337Gly)
c.1142C>G (p.Ala381Gly)
 gnomAD v4
18g.33744026C>TCA8934190ASXL3c.4181C>T (p.Ala1394Val)
c.4178C>T (p.Ala1393Val)
c.4058C>T (p.Ala1353Val)
c.4154C>T (p.Ala1385Val)
c.4100C>T (p.Ala1367Val)
c.4061C>T (p.Ala1354Val)
c.4010C>T (p.Ala1337Val)
c.1142C>T (p.Ala381Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744027A>CCA503770107ASXL3c.4182A>C (p.Ala1394=)
c.4179A>C (p.Ala1393=)
c.4059A>C (p.Ala1353=)
c.4155A>C (p.Ala1385=)
c.4101A>C (p.Ala1367=)
c.4062A>C (p.Ala1354=)
c.4011A>C (p.Ala1337=)
c.1143A>C (p.Ala381=)
18g.33744027A>GCA503770110ASXL3c.4182A>G (p.Ala1394=)
c.4179A>G (p.Ala1393=)
c.4059A>G (p.Ala1353=)
c.4155A>G (p.Ala1385=)
c.4101A>G (p.Ala1367=)
c.4062A>G (p.Ala1354=)
c.4011A>G (p.Ala1337=)
c.1143A>G (p.Ala381=)
18g.33744027A>TCA503770112ASXL3c.4182A>T (p.Ala1394=)
c.4179A>T (p.Ala1393=)
c.4059A>T (p.Ala1353=)
c.4155A>T (p.Ala1385=)
c.4101A>T (p.Ala1367=)
c.4062A>T (p.Ala1354=)
c.4011A>T (p.Ala1337=)
c.1143A>T (p.Ala381=)
18g.33744028G>ACA402190355ASXL3c.4183G>A (p.Ala1395Thr)
c.4180G>A (p.Ala1394Thr)
c.4060G>A (p.Ala1354Thr)
c.4156G>A (p.Ala1386Thr)
c.4102G>A (p.Ala1368Thr)
c.4063G>A (p.Ala1355Thr)
c.4012G>A (p.Ala1338Thr)
c.1144G>A (p.Ala382Thr)
 gnomAD v4
18g.33744028G>CCA402190358ASXL3c.4183G>C (p.Ala1395Pro)
c.4180G>C (p.Ala1394Pro)
c.4060G>C (p.Ala1354Pro)
c.4156G>C (p.Ala1386Pro)
c.4102G>C (p.Ala1368Pro)
c.4063G>C (p.Ala1355Pro)
c.4012G>C (p.Ala1338Pro)
c.1144G>C (p.Ala382Pro)
18g.33744028G>TCA402190353ASXL3c.4183G>T (p.Ala1395Ser)
c.4180G>T (p.Ala1394Ser)
c.4060G>T (p.Ala1354Ser)
c.4156G>T (p.Ala1386Ser)
c.4102G>T (p.Ala1368Ser)
c.4063G>T (p.Ala1355Ser)
c.4012G>T (p.Ala1338Ser)
c.1144G>T (p.Ala382Ser)
18g.33744028_33744029delCA2695227403ASXL3c.4183_4184del (p.Ala1395ProfsTer5)
c.4180_4181del (p.Ala1394ProfsTer5)
c.4060_4061del (p.Ala1354ProfsTer5)
c.4156_4157del (p.Ala1386ProfsTer5)
c.4102_4103del (p.Ala1368ProfsTer5)
c.4063_4064del (p.Ala1355ProfsTer5)
c.4012_4013del (p.Ala1338ProfsTer5)
c.1144_1145del (p.Ala382ProfsTer5)
18g.33744029C>ACA402190363ASXL3c.4184C>A (p.Ala1395Asp)
c.4181C>A (p.Ala1394Asp)
c.4061C>A (p.Ala1354Asp)
c.4157C>A (p.Ala1386Asp)
c.4103C>A (p.Ala1368Asp)
c.4064C>A (p.Ala1355Asp)
c.4013C>A (p.Ala1338Asp)
c.1145C>A (p.Ala382Asp)
18g.33744029C>GCA402190361ASXL3c.4184C>G (p.Ala1395Gly)
c.4181C>G (p.Ala1394Gly)
c.4061C>G (p.Ala1354Gly)
c.4157C>G (p.Ala1386Gly)
c.4103C>G (p.Ala1368Gly)
c.4064C>G (p.Ala1355Gly)
c.4013C>G (p.Ala1338Gly)
c.1145C>G (p.Ala382Gly)
18g.33744029C>TCA402190365ASXL3c.4184C>T (p.Ala1395Val)
c.4181C>T (p.Ala1394Val)
c.4061C>T (p.Ala1354Val)
c.4157C>T (p.Ala1386Val)
c.4103C>T (p.Ala1368Val)
c.4064C>T (p.Ala1355Val)
c.4013C>T (p.Ala1338Val)
c.1145C>T (p.Ala382Val)
18g.33744030C>ACA503770118ASXL3c.4185C>A (p.Ala1395=)
c.4182C>A (p.Ala1394=)
c.4062C>A (p.Ala1354=)
c.4158C>A (p.Ala1386=)
c.4104C>A (p.Ala1368=)
c.4065C>A (p.Ala1355=)
c.4014C>A (p.Ala1338=)
c.1146C>A (p.Ala382=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744030C=CA2294857955ASXL3c.4185C= (p.Ala1395=)
c.4182C= (p.Ala1394=)
c.4062C= (p.Ala1354=)
c.4158C= (p.Ala1386=)
c.4104C= (p.Ala1368=)
c.4065C= (p.Ala1355=)
c.4014C= (p.Ala1338=)
c.1146C= (p.Ala382=)
18g.33744030C>GCA503770116ASXL3c.4185C>G (p.Ala1395=)
c.4182C>G (p.Ala1394=)
c.4062C>G (p.Ala1354=)
c.4158C>G (p.Ala1386=)
c.4104C>G (p.Ala1368=)
c.4065C>G (p.Ala1355=)
c.4014C>G (p.Ala1338=)
c.1146C>G (p.Ala382=)
 gnomAD v4
18g.33744030C>TCA503770117ASXL3c.4185C>T (p.Ala1395=)
c.4182C>T (p.Ala1394=)
c.4062C>T (p.Ala1354=)
c.4158C>T (p.Ala1386=)
c.4104C>T (p.Ala1368=)
c.4065C>T (p.Ala1355=)
c.4014C>T (p.Ala1338=)
c.1146C>T (p.Ala382=)
18g.33744031C>ACA402190369ASXL3c.4186C>A (p.Leu1396Ile)
c.4183C>A (p.Leu1395Ile)
c.4063C>A (p.Leu1355Ile)
c.4159C>A (p.Leu1387Ile)
c.4105C>A (p.Leu1369Ile)
c.4066C>A (p.Leu1356Ile)
c.4015C>A (p.Leu1339Ile)
c.1147C>A (p.Leu383Ile)
 dbSNP gnomAD v2 gnomAD v4
18g.33744031C=CA2294857956ASXL3c.4186C= (p.Leu1396=)
c.4183C= (p.Leu1395=)
c.4063C= (p.Leu1355=)
c.4159C= (p.Leu1387=)
c.4105C= (p.Leu1369=)
c.4066C= (p.Leu1356=)
c.4015C= (p.Leu1339=)
c.1147C= (p.Leu383=)
18g.33744031C>GCA402190372ASXL3c.4186C>G (p.Leu1396Val)
c.4183C>G (p.Leu1395Val)
c.4063C>G (p.Leu1355Val)
c.4159C>G (p.Leu1387Val)
c.4105C>G (p.Leu1369Val)
c.4066C>G (p.Leu1356Val)
c.4015C>G (p.Leu1339Val)
c.1147C>G (p.Leu383Val)
18g.33744031C>TCA8934191ASXL3c.4186C>T (p.Leu1396Phe)
c.4183C>T (p.Leu1395Phe)
c.4063C>T (p.Leu1355Phe)
c.4159C>T (p.Leu1387Phe)
c.4105C>T (p.Leu1369Phe)
c.4066C>T (p.Leu1356Phe)
c.4015C>T (p.Leu1339Phe)
c.1147C>T (p.Leu383Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744032T>ACA402190376ASXL3c.4187T>A (p.Leu1396His)
c.4184T>A (p.Leu1395His)
c.4064T>A (p.Leu1355His)
c.4160T>A (p.Leu1387His)
c.4106T>A (p.Leu1369His)
c.4067T>A (p.Leu1356His)
c.4016T>A (p.Leu1339His)
c.1148T>A (p.Leu383His)
18g.33744032T>CCA402190380ASXL3c.4187T>C (p.Leu1396Pro)
c.4184T>C (p.Leu1395Pro)
c.4064T>C (p.Leu1355Pro)
c.4160T>C (p.Leu1387Pro)
c.4106T>C (p.Leu1369Pro)
c.4067T>C (p.Leu1356Pro)
c.4016T>C (p.Leu1339Pro)
c.1148T>C (p.Leu383Pro)
 gnomAD v4
18g.33744032T>GCA402190377ASXL3c.4187T>G (p.Leu1396Arg)
c.4184T>G (p.Leu1395Arg)
c.4064T>G (p.Leu1355Arg)
c.4160T>G (p.Leu1387Arg)
c.4106T>G (p.Leu1369Arg)
c.4067T>G (p.Leu1356Arg)
c.4016T>G (p.Leu1339Arg)
c.1148T>G (p.Leu383Arg)
18g.33744033C>ACA503770127ASXL3c.4188C>A (p.Leu1396=)
c.4185C>A (p.Leu1395=)
c.4065C>A (p.Leu1355=)
c.4161C>A (p.Leu1387=)
c.4107C>A (p.Leu1369=)
c.4068C>A (p.Leu1356=)
c.4017C>A (p.Leu1339=)
c.1149C>A (p.Leu383=)
18g.33744033C>GCA503770129ASXL3c.4188C>G (p.Leu1396=)
c.4185C>G (p.Leu1395=)
c.4065C>G (p.Leu1355=)
c.4161C>G (p.Leu1387=)
c.4107C>G (p.Leu1369=)
c.4068C>G (p.Leu1356=)
c.4017C>G (p.Leu1339=)
c.1149C>G (p.Leu383=)
18g.33744033C>TCA503770132ASXL3c.4188C>T (p.Leu1396=)
c.4185C>T (p.Leu1395=)
c.4065C>T (p.Leu1355=)
c.4161C>T (p.Leu1387=)
c.4107C>T (p.Leu1369=)
c.4068C>T (p.Leu1356=)
c.4017C>T (p.Leu1339=)
c.1149C>T (p.Leu383=)
18g.33744034A>CCA402190383ASXL3c.4189A>C (p.Ser1397Arg)
c.4186A>C (p.Ser1396Arg)
c.4066A>C (p.Ser1356Arg)
c.4162A>C (p.Ser1388Arg)
c.4108A>C (p.Ser1370Arg)
c.4069A>C (p.Ser1357Arg)
c.4018A>C (p.Ser1340Arg)
c.1150A>C (p.Ser384Arg)
18g.33744034A>GCA402190384ASXL3c.4189A>G (p.Ser1397Gly)
c.4186A>G (p.Ser1396Gly)
c.4066A>G (p.Ser1356Gly)
c.4162A>G (p.Ser1388Gly)
c.4108A>G (p.Ser1370Gly)
c.4069A>G (p.Ser1357Gly)
c.4018A>G (p.Ser1340Gly)
c.1150A>G (p.Ser384Gly)
18g.33744034A>TCA402190387ASXL3c.4189A>T (p.Ser1397Cys)
c.4186A>T (p.Ser1396Cys)
c.4066A>T (p.Ser1356Cys)
c.4162A>T (p.Ser1388Cys)
c.4108A>T (p.Ser1370Cys)
c.4069A>T (p.Ser1357Cys)
c.4018A>T (p.Ser1340Cys)
c.1150A>T (p.Ser384Cys)
18g.33744035G>ACA402190389ASXL3c.4190G>A (p.Ser1397Asn)
c.4187G>A (p.Ser1396Asn)
c.4067G>A (p.Ser1356Asn)
c.4163G>A (p.Ser1388Asn)
c.4109G>A (p.Ser1370Asn)
c.4070G>A (p.Ser1357Asn)
c.4019G>A (p.Ser1340Asn)
c.1151G>A (p.Ser384Asn)
 gnomAD v4 COSMIC
18g.33744035G>CCA8934192ASXL3c.4190G>C (p.Ser1397Thr)
c.4187G>C (p.Ser1396Thr)
c.4067G>C (p.Ser1356Thr)
c.4163G>C (p.Ser1388Thr)
c.4109G>C (p.Ser1370Thr)
c.4070G>C (p.Ser1357Thr)
c.4019G>C (p.Ser1340Thr)
c.1151G>C (p.Ser384Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744035G=CA2294857957ASXL3c.4190G= (p.Ser1397=)
c.4187G= (p.Ser1396=)
c.4067G= (p.Ser1356=)
c.4163G= (p.Ser1388=)
c.4109G= (p.Ser1370=)
c.4070G= (p.Ser1357=)
c.4019G= (p.Ser1340=)
c.1151G= (p.Ser384=)
18g.33744035G>TCA402190390ASXL3c.4190G>T (p.Ser1397Ile)
c.4187G>T (p.Ser1396Ile)
c.4067G>T (p.Ser1356Ile)
c.4163G>T (p.Ser1388Ile)
c.4109G>T (p.Ser1370Ile)
c.4070G>T (p.Ser1357Ile)
c.4019G>T (p.Ser1340Ile)
c.1151G>T (p.Ser384Ile)
18g.33744036C>ACA402190391ASXL3c.4191C>A (p.Ser1397Arg)
c.4188C>A (p.Ser1396Arg)
c.4068C>A (p.Ser1356Arg)
c.4164C>A (p.Ser1388Arg)
c.4110C>A (p.Ser1370Arg)
c.4071C>A (p.Ser1357Arg)
c.4020C>A (p.Ser1340Arg)
c.1152C>A (p.Ser384Arg)
 dbSNP gnomAD v3 gnomAD v4
18g.33744036C=CA2294857958ASXL3c.4191C= (p.Ser1397=)
c.4188C= (p.Ser1396=)
c.4068C= (p.Ser1356=)
c.4164C= (p.Ser1388=)
c.4110C= (p.Ser1370=)
c.4071C= (p.Ser1357=)
c.4020C= (p.Ser1340=)
c.1152C= (p.Ser384=)
18g.33744036C>GCA402190392ASXL3c.4191C>G (p.Ser1397Arg)
c.4188C>G (p.Ser1396Arg)
c.4068C>G (p.Ser1356Arg)
c.4164C>G (p.Ser1388Arg)
c.4110C>G (p.Ser1370Arg)
c.4071C>G (p.Ser1357Arg)
c.4020C>G (p.Ser1340Arg)
c.1152C>G (p.Ser384Arg)
18g.33744036C>TCA503770142ASXL3c.4191C>T (p.Ser1397=)
c.4188C>T (p.Ser1396=)
c.4068C>T (p.Ser1356=)
c.4164C>T (p.Ser1388=)
c.4110C>T (p.Ser1370=)
c.4071C>T (p.Ser1357=)
c.4020C>T (p.Ser1340=)
c.1152C>T (p.Ser384=)
18g.33744037T>ACA402190393ASXL3c.4192T>A (p.Cys1398Ser)
c.4189T>A (p.Cys1397Ser)
c.4069T>A (p.Cys1357Ser)
c.4165T>A (p.Cys1389Ser)
c.4111T>A (p.Cys1371Ser)
c.4072T>A (p.Cys1358Ser)
c.4021T>A (p.Cys1341Ser)
c.1153T>A (p.Cys385Ser)
18g.33744037T>CCA402190394ASXL3c.4192T>C (p.Cys1398Arg)
c.4189T>C (p.Cys1397Arg)
c.4069T>C (p.Cys1357Arg)
c.4165T>C (p.Cys1389Arg)
c.4111T>C (p.Cys1371Arg)
c.4072T>C (p.Cys1358Arg)
c.4021T>C (p.Cys1341Arg)
c.1153T>C (p.Cys385Arg)
18g.33744037T>GCA402190395ASXL3c.4192T>G (p.Cys1398Gly)
c.4189T>G (p.Cys1397Gly)
c.4069T>G (p.Cys1357Gly)
c.4165T>G (p.Cys1389Gly)
c.4111T>G (p.Cys1371Gly)
c.4072T>G (p.Cys1358Gly)
c.4021T>G (p.Cys1341Gly)
c.1153T>G (p.Cys385Gly)
18g.33744038G>ACA402190398ASXL3c.4193G>A (p.Cys1398Tyr)
c.4190G>A (p.Cys1397Tyr)
c.4070G>A (p.Cys1357Tyr)
c.4166G>A (p.Cys1389Tyr)
c.4112G>A (p.Cys1371Tyr)
c.4073G>A (p.Cys1358Tyr)
c.4022G>A (p.Cys1341Tyr)
c.1154G>A (p.Cys385Tyr)
 dbSNP gnomAD v2 gnomAD v4
18g.33744038G>CCA402190396ASXL3c.4193G>C (p.Cys1398Ser)
c.4190G>C (p.Cys1397Ser)
c.4070G>C (p.Cys1357Ser)
c.4166G>C (p.Cys1389Ser)
c.4112G>C (p.Cys1371Ser)
c.4073G>C (p.Cys1358Ser)
c.4022G>C (p.Cys1341Ser)
c.1154G>C (p.Cys385Ser)
18g.33744038G=CA2294857959ASXL3c.4193G= (p.Cys1398=)
c.4190G= (p.Cys1397=)
c.4070G= (p.Cys1357=)
c.4166G= (p.Cys1389=)
c.4112G= (p.Cys1371=)
c.4073G= (p.Cys1358=)
c.4022G= (p.Cys1341=)
c.1154G= (p.Cys385=)
18g.33744038G>TCA402190397ASXL3c.4193G>T (p.Cys1398Phe)
c.4190G>T (p.Cys1397Phe)
c.4070G>T (p.Cys1357Phe)
c.4166G>T (p.Cys1389Phe)
c.4112G>T (p.Cys1371Phe)
c.4073G>T (p.Cys1358Phe)
c.4022G>T (p.Cys1341Phe)
c.1154G>T (p.Cys385Phe)
 gnomAD v4
18g.33744039C>ACA402190399ASXL3c.4194C>A (p.Cys1398Ter)
c.4191C>A (p.Cys1397Ter)
c.4071C>A (p.Cys1357Ter)
c.4167C>A (p.Cys1389Ter)
c.4113C>A (p.Cys1371Ter)
c.4074C>A (p.Cys1358Ter)
c.4023C>A (p.Cys1341Ter)
c.1155C>A (p.Cys385Ter)
18g.33744039C>GCA402190400ASXL3c.4194C>G (p.Cys1398Trp)
c.4191C>G (p.Cys1397Trp)
c.4071C>G (p.Cys1357Trp)
c.4167C>G (p.Cys1389Trp)
c.4113C>G (p.Cys1371Trp)
c.4074C>G (p.Cys1358Trp)
c.4023C>G (p.Cys1341Trp)
c.1155C>G (p.Cys385Trp)
18g.33744039C>TCA503770150ASXL3c.4194C>T (p.Cys1398=)
c.4191C>T (p.Cys1397=)
c.4071C>T (p.Cys1357=)
c.4167C>T (p.Cys1389=)
c.4113C>T (p.Cys1371=)
c.4074C>T (p.Cys1358=)
c.4023C>T (p.Cys1341=)
c.1155C>T (p.Cys385=)
18g.33744040A>CCA402190401ASXL3c.4195A>C (p.Ser1399Arg)
c.4192A>C (p.Ser1398Arg)
c.4072A>C (p.Ser1358Arg)
c.4168A>C (p.Ser1390Arg)
c.4114A>C (p.Ser1372Arg)
c.4075A>C (p.Ser1359Arg)
c.4024A>C (p.Ser1342Arg)
c.1156A>C (p.Ser386Arg)
18g.33744040A>GCA402190402ASXL3c.4195A>G (p.Ser1399Gly)
c.4192A>G (p.Ser1398Gly)
c.4072A>G (p.Ser1358Gly)
c.4168A>G (p.Ser1390Gly)
c.4114A>G (p.Ser1372Gly)
c.4075A>G (p.Ser1359Gly)
c.4024A>G (p.Ser1342Gly)
c.1156A>G (p.Ser386Gly)
18g.33744040A>TCA402190403ASXL3c.4195A>T (p.Ser1399Cys)
c.4192A>T (p.Ser1398Cys)
c.4072A>T (p.Ser1358Cys)
c.4168A>T (p.Ser1390Cys)
c.4114A>T (p.Ser1372Cys)
c.4075A>T (p.Ser1359Cys)
c.4024A>T (p.Ser1342Cys)
c.1156A>T (p.Ser386Cys)
18g.33744041G>ACA402190404ASXL3c.4196G>A (p.Ser1399Asn)
c.4193G>A (p.Ser1398Asn)
c.4073G>A (p.Ser1358Asn)
c.4169G>A (p.Ser1390Asn)
c.4115G>A (p.Ser1372Asn)
c.4076G>A (p.Ser1359Asn)
c.4025G>A (p.Ser1342Asn)
c.1157G>A (p.Ser386Asn)
18g.33744041G>CCA402190405ASXL3c.4196G>C (p.Ser1399Thr)
c.4193G>C (p.Ser1398Thr)
c.4073G>C (p.Ser1358Thr)
c.4169G>C (p.Ser1390Thr)
c.4115G>C (p.Ser1372Thr)
c.4076G>C (p.Ser1359Thr)
c.4025G>C (p.Ser1342Thr)
c.1157G>C (p.Ser386Thr)
18g.33744041G>TCA402190406ASXL3c.4196G>T (p.Ser1399Ile)
c.4193G>T (p.Ser1398Ile)
c.4073G>T (p.Ser1358Ile)
c.4169G>T (p.Ser1390Ile)
c.4115G>T (p.Ser1372Ile)
c.4076G>T (p.Ser1359Ile)
c.4025G>T (p.Ser1342Ile)
c.1157G>T (p.Ser386Ile)
18g.33744042T>ACA402190407ASXL3c.4197T>A (p.Ser1399Arg)
c.4194T>A (p.Ser1398Arg)
c.4074T>A (p.Ser1358Arg)
c.4170T>A (p.Ser1390Arg)
c.4116T>A (p.Ser1372Arg)
c.4077T>A (p.Ser1359Arg)
c.4026T>A (p.Ser1342Arg)
c.1158T>A (p.Ser386Arg)
18g.33744042T>CCA503770161ASXL3c.4197T>C (p.Ser1399=)
c.4194T>C (p.Ser1398=)
c.4074T>C (p.Ser1358=)
c.4170T>C (p.Ser1390=)
c.4116T>C (p.Ser1372=)
c.4077T>C (p.Ser1359=)
c.4026T>C (p.Ser1342=)
c.1158T>C (p.Ser386=)
18g.33744042T>GCA402190408ASXL3c.4197T>G (p.Ser1399Arg)
c.4194T>G (p.Ser1398Arg)
c.4074T>G (p.Ser1358Arg)
c.4170T>G (p.Ser1390Arg)
c.4116T>G (p.Ser1372Arg)
c.4077T>G (p.Ser1359Arg)
c.4026T>G (p.Ser1342Arg)
c.1158T>G (p.Ser386Arg)
18g.33744043G>ACA8934193ASXL3c.4198G>A (p.Asp1400Asn)
c.4195G>A (p.Asp1399Asn)
c.4075G>A (p.Asp1359Asn)
c.4171G>A (p.Asp1391Asn)
c.4117G>A (p.Asp1373Asn)
c.4078G>A (p.Asp1360Asn)
c.4027G>A (p.Asp1343Asn)
c.1159G>A (p.Asp387Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744043G>CCA402190410ASXL3c.4198G>C (p.Asp1400His)
c.4195G>C (p.Asp1399His)
c.4075G>C (p.Asp1359His)
c.4171G>C (p.Asp1391His)
c.4117G>C (p.Asp1373His)
c.4078G>C (p.Asp1360His)
c.4027G>C (p.Asp1343His)
c.1159G>C (p.Asp387His)
18g.33744043G=CA2294857960ASXL3c.4198G= (p.Asp1400=)
c.4195G= (p.Asp1399=)
c.4075G= (p.Asp1359=)
c.4171G= (p.Asp1391=)
c.4117G= (p.Asp1373=)
c.4078G= (p.Asp1360=)
c.4027G= (p.Asp1343=)
c.1159G= (p.Asp387=)
18g.33744043G>TCA402190409ASXL3c.4198G>T (p.Asp1400Tyr)
c.4195G>T (p.Asp1399Tyr)
c.4075G>T (p.Asp1359Tyr)
c.4171G>T (p.Asp1391Tyr)
c.4117G>T (p.Asp1373Tyr)
c.4078G>T (p.Asp1360Tyr)
c.4027G>T (p.Asp1343Tyr)
c.1159G>T (p.Asp387Tyr)
18g.33744044A>CCA402190411ASXL3c.4199A>C (p.Asp1400Ala)
c.4196A>C (p.Asp1399Ala)
c.4076A>C (p.Asp1359Ala)
c.4172A>C (p.Asp1391Ala)
c.4118A>C (p.Asp1373Ala)
c.4079A>C (p.Asp1360Ala)
c.4028A>C (p.Asp1343Ala)
c.1160A>C (p.Asp387Ala)
18g.33744044A>GCA402190412ASXL3c.4199A>G (p.Asp1400Gly)
c.4196A>G (p.Asp1399Gly)
c.4076A>G (p.Asp1359Gly)
c.4172A>G (p.Asp1391Gly)
c.4118A>G (p.Asp1373Gly)
c.4079A>G (p.Asp1360Gly)
c.4028A>G (p.Asp1343Gly)
c.1160A>G (p.Asp387Gly)
18g.33744044A>TCA402190413ASXL3c.4199A>T (p.Asp1400Val)
c.4196A>T (p.Asp1399Val)
c.4076A>T (p.Asp1359Val)
c.4172A>T (p.Asp1391Val)
c.4118A>T (p.Asp1373Val)
c.4079A>T (p.Asp1360Val)
c.4028A>T (p.Asp1343Val)
c.1160A>T (p.Asp387Val)
18g.33744045T>ACA402190414ASXL3c.4200T>A (p.Asp1400Glu)
c.4197T>A (p.Asp1399Glu)
c.4077T>A (p.Asp1359Glu)
c.4173T>A (p.Asp1391Glu)
c.4119T>A (p.Asp1373Glu)
c.4080T>A (p.Asp1360Glu)
c.4029T>A (p.Asp1343Glu)
c.1161T>A (p.Asp387Glu)
18g.33744045T>CCA8934194ASXL3c.4200T>C (p.Asp1400=)
c.4197T>C (p.Asp1399=)
c.4077T>C (p.Asp1359=)
c.4173T>C (p.Asp1391=)
c.4119T>C (p.Asp1373=)
c.4080T>C (p.Asp1360=)
c.4029T>C (p.Asp1343=)
c.1161T>C (p.Asp387=)
 dbSNP ExAC gnomAD v2
18g.33744045T>GCA402190415ASXL3c.4200T>G (p.Asp1400Glu)
c.4197T>G (p.Asp1399Glu)
c.4077T>G (p.Asp1359Glu)
c.4173T>G (p.Asp1391Glu)
c.4119T>G (p.Asp1373Glu)
c.4080T>G (p.Asp1360Glu)
c.4029T>G (p.Asp1343Glu)
c.1161T>G (p.Asp387Glu)
 dbSNP gnomAD v3 gnomAD v4
18g.33744045T=CA2294857961ASXL3c.4200T= (p.Asp1400=)
c.4197T= (p.Asp1399=)
c.4077T= (p.Asp1359=)
c.4173T= (p.Asp1391=)
c.4119T= (p.Asp1373=)
c.4080T= (p.Asp1360=)
c.4029T= (p.Asp1343=)
c.1161T= (p.Asp387=)
18g.33744046T>ACA402190416ASXL3c.4201T>A (p.Ser1401Thr)
c.4198T>A (p.Ser1400Thr)
c.4078T>A (p.Ser1360Thr)
c.4174T>A (p.Ser1392Thr)
c.4120T>A (p.Ser1374Thr)
c.4081T>A (p.Ser1361Thr)
c.4030T>A (p.Ser1344Thr)
c.1162T>A (p.Ser388Thr)
18g.33744046T>CCA402190417ASXL3c.4201T>C (p.Ser1401Pro)
c.4198T>C (p.Ser1400Pro)
c.4078T>C (p.Ser1360Pro)
c.4174T>C (p.Ser1392Pro)
c.4120T>C (p.Ser1374Pro)
c.4081T>C (p.Ser1361Pro)
c.4030T>C (p.Ser1344Pro)
c.1162T>C (p.Ser388Pro)
18g.33744046T>GCA8934195ASXL3c.4201T>G (p.Ser1401Ala)
c.4198T>G (p.Ser1400Ala)
c.4078T>G (p.Ser1360Ala)
c.4174T>G (p.Ser1392Ala)
c.4120T>G (p.Ser1374Ala)
c.4081T>G (p.Ser1361Ala)
c.4030T>G (p.Ser1344Ala)
c.1162T>G (p.Ser388Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744046T=CA2294857962ASXL3c.4201T= (p.Ser1401=)
c.4198T= (p.Ser1400=)
c.4078T= (p.Ser1360=)
c.4174T= (p.Ser1392=)
c.4120T= (p.Ser1374=)
c.4081T= (p.Ser1361=)
c.4030T= (p.Ser1344=)
c.1162T= (p.Ser388=)
18g.33744047C>ACA402190418ASXL3c.4202C>A (p.Ser1401Tyr)
c.4199C>A (p.Ser1400Tyr)
c.4079C>A (p.Ser1360Tyr)
c.4175C>A (p.Ser1392Tyr)
c.4121C>A (p.Ser1374Tyr)
c.4082C>A (p.Ser1361Tyr)
c.4031C>A (p.Ser1344Tyr)
c.1163C>A (p.Ser388Tyr)
18g.33744047C=CA2294857963ASXL3c.4202C= (p.Ser1401=)
c.4199C= (p.Ser1400=)
c.4079C= (p.Ser1360=)
c.4175C= (p.Ser1392=)
c.4121C= (p.Ser1374=)
c.4082C= (p.Ser1361=)
c.4031C= (p.Ser1344=)
c.1163C= (p.Ser388=)
18g.33744047C>GCA8934196ASXL3c.4202C>G (p.Ser1401Cys)
c.4199C>G (p.Ser1400Cys)
c.4079C>G (p.Ser1360Cys)
c.4175C>G (p.Ser1392Cys)
c.4121C>G (p.Ser1374Cys)
c.4082C>G (p.Ser1361Cys)
c.4031C>G (p.Ser1344Cys)
c.1163C>G (p.Ser388Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744047C>TCA297793434ASXL3c.4202C>T (p.Ser1401Phe)
c.4199C>T (p.Ser1400Phe)
c.4079C>T (p.Ser1360Phe)
c.4175C>T (p.Ser1392Phe)
c.4121C>T (p.Ser1374Phe)
c.4082C>T (p.Ser1361Phe)
c.4031C>T (p.Ser1344Phe)
c.1163C>T (p.Ser388Phe)
 dbSNP
18g.33744048_33744053delCA2576484146ASXL3c.4203_4208del (p.Val1402_Ala1403del)
c.4200_4205del (p.Val1401_Ala1402del)
c.4080_4085del (p.Val1361_Ala1362del)
c.4176_4181del (p.Val1393_Ala1394del)
c.4122_4127del (p.Val1375_Ala1376del)
c.4083_4088del (p.Val1362_Ala1363del)
c.4032_4037del (p.Val1345_Ala1346del)
c.1164_1169del (p.Val389_Ala390del)
 gnomAD v4
18g.33744048T>ACA503770179ASXL3c.4203T>A (p.Ser1401=)
c.4200T>A (p.Ser1400=)
c.4080T>A (p.Ser1360=)
c.4176T>A (p.Ser1392=)
c.4122T>A (p.Ser1374=)
c.4083T>A (p.Ser1361=)
c.4032T>A (p.Ser1344=)
c.1164T>A (p.Ser388=)
18g.33744048T>CCA297793438ASXL3c.4203T>C (p.Ser1401=)
c.4200T>C (p.Ser1400=)
c.4080T>C (p.Ser1360=)
c.4176T>C (p.Ser1392=)
c.4122T>C (p.Ser1374=)
c.4083T>C (p.Ser1361=)
c.4032T>C (p.Ser1344=)
c.1164T>C (p.Ser388=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744048T>GCA503770181ASXL3c.4203T>G (p.Ser1401=)
c.4200T>G (p.Ser1400=)
c.4080T>G (p.Ser1360=)
c.4176T>G (p.Ser1392=)
c.4122T>G (p.Ser1374=)
c.4083T>G (p.Ser1361=)
c.4032T>G (p.Ser1344=)
c.1164T>G (p.Ser388=)
18g.33744048T=CA2294857964ASXL3c.4203T= (p.Ser1401=)
c.4200T= (p.Ser1400=)
c.4080T= (p.Ser1360=)
c.4176T= (p.Ser1392=)
c.4122T= (p.Ser1374=)
c.4083T= (p.Ser1361=)
c.4032T= (p.Ser1344=)
c.1164T= (p.Ser388=)
18g.33744049G>ACA402190421ASXL3c.4204G>A (p.Val1402Ile)
c.4201G>A (p.Val1401Ile)
c.4081G>A (p.Val1361Ile)
c.4177G>A (p.Val1393Ile)
c.4123G>A (p.Val1375Ile)
c.4084G>A (p.Val1362Ile)
c.4033G>A (p.Val1345Ile)
c.1165G>A (p.Val389Ile)
18g.33744049G>CCA402190420ASXL3c.4204G>C (p.Val1402Leu)
c.4201G>C (p.Val1401Leu)
c.4081G>C (p.Val1361Leu)
c.4177G>C (p.Val1393Leu)
c.4123G>C (p.Val1375Leu)
c.4084G>C (p.Val1362Leu)
c.4033G>C (p.Val1345Leu)
c.1165G>C (p.Val389Leu)
 gnomAD v4
18g.33744049G=CA2294857965ASXL3c.4204G= (p.Val1402=)
c.4201G= (p.Val1401=)
c.4081G= (p.Val1361=)
c.4177G= (p.Val1393=)
c.4123G= (p.Val1375=)
c.4084G= (p.Val1362=)
c.4033G= (p.Val1345=)
c.1165G= (p.Val389=)
18g.33744049G>TCA402190419ASXL3c.4204G>T (p.Val1402Leu)
c.4201G>T (p.Val1401Leu)
c.4081G>T (p.Val1361Leu)
c.4177G>T (p.Val1393Leu)
c.4123G>T (p.Val1375Leu)
c.4084G>T (p.Val1362Leu)
c.4033G>T (p.Val1345Leu)
c.1165G>T (p.Val389Leu)
 dbSNP
18g.33744050T>ACA402190422ASXL3c.4205T>A (p.Val1402Glu)
c.4202T>A (p.Val1401Glu)
c.4082T>A (p.Val1361Glu)
c.4178T>A (p.Val1393Glu)
c.4124T>A (p.Val1375Glu)
c.4085T>A (p.Val1362Glu)
c.4034T>A (p.Val1345Glu)
c.1166T>A (p.Val389Glu)
18g.33744050T>CCA402190423ASXL3c.4205T>C (p.Val1402Ala)
c.4202T>C (p.Val1401Ala)
c.4082T>C (p.Val1361Ala)
c.4178T>C (p.Val1393Ala)
c.4124T>C (p.Val1375Ala)
c.4085T>C (p.Val1362Ala)
c.4034T>C (p.Val1345Ala)
c.1166T>C (p.Val389Ala)
 gnomAD v4
18g.33744050T>GCA402190424ASXL3c.4205T>G (p.Val1402Gly)
c.4202T>G (p.Val1401Gly)
c.4082T>G (p.Val1361Gly)
c.4178T>G (p.Val1393Gly)
c.4124T>G (p.Val1375Gly)
c.4085T>G (p.Val1362Gly)
c.4034T>G (p.Val1345Gly)
c.1166T>G (p.Val389Gly)
18g.33744051A=CA2294857966ASXL3c.4206A= (p.Val1402=)
c.4203A= (p.Val1401=)
c.4083A= (p.Val1361=)
c.4179A= (p.Val1393=)
c.4125A= (p.Val1375=)
c.4086A= (p.Val1362=)
c.4035A= (p.Val1345=)
c.1167A= (p.Val389=)
18g.33744051A>CCA503770189ASXL3c.4206A>C (p.Val1402=)
c.4203A>C (p.Val1401=)
c.4083A>C (p.Val1361=)
c.4179A>C (p.Val1393=)
c.4125A>C (p.Val1375=)
c.4086A>C (p.Val1362=)
c.4035A>C (p.Val1345=)
c.1167A>C (p.Val389=)
18g.33744051A>GCA8934197ASXL3c.4206A>G (p.Val1402=)
c.4203A>G (p.Val1401=)
c.4083A>G (p.Val1361=)
c.4179A>G (p.Val1393=)
c.4125A>G (p.Val1375=)
c.4086A>G (p.Val1362=)
c.4035A>G (p.Val1345=)
c.1167A>G (p.Val389=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744051A>TCA503770191ASXL3c.4206A>T (p.Val1402=)
c.4203A>T (p.Val1401=)
c.4083A>T (p.Val1361=)
c.4179A>T (p.Val1393=)
c.4125A>T (p.Val1375=)
c.4086A>T (p.Val1362=)
c.4035A>T (p.Val1345=)
c.1167A>T (p.Val389=)
18g.33744052G>ACA402190425ASXL3c.4207G>A (p.Ala1403Thr)
c.4204G>A (p.Ala1402Thr)
c.4084G>A (p.Ala1362Thr)
c.4180G>A (p.Ala1394Thr)
c.4126G>A (p.Ala1376Thr)
c.4087G>A (p.Ala1363Thr)
c.4036G>A (p.Ala1346Thr)
c.1168G>A (p.Ala390Thr)
 gnomAD v4
18g.33744052G>CCA402190426ASXL3c.4207G>C (p.Ala1403Pro)
c.4204G>C (p.Ala1402Pro)
c.4084G>C (p.Ala1362Pro)
c.4180G>C (p.Ala1394Pro)
c.4126G>C (p.Ala1376Pro)
c.4087G>C (p.Ala1363Pro)
c.4036G>C (p.Ala1346Pro)
c.1168G>C (p.Ala390Pro)
18g.33744052G=CA2294857967ASXL3c.4207G= (p.Ala1403=)
c.4204G= (p.Ala1402=)
c.4084G= (p.Ala1362=)
c.4180G= (p.Ala1394=)
c.4126G= (p.Ala1376=)
c.4087G= (p.Ala1363=)
c.4036G= (p.Ala1346=)
c.1168G= (p.Ala390=)
18g.33744052G>TCA402190427ASXL3c.4207G>T (p.Ala1403Ser)
c.4204G>T (p.Ala1402Ser)
c.4084G>T (p.Ala1362Ser)
c.4180G>T (p.Ala1394Ser)
c.4126G>T (p.Ala1376Ser)
c.4087G>T (p.Ala1363Ser)
c.4036G>T (p.Ala1346Ser)
c.1168G>T (p.Ala390Ser)
 dbSNP gnomAD v4
18g.33744053C>ACA402190428ASXL3c.4208C>A (p.Ala1403Glu)
c.4205C>A (p.Ala1402Glu)
c.4085C>A (p.Ala1362Glu)
c.4181C>A (p.Ala1394Glu)
c.4127C>A (p.Ala1376Glu)
c.4088C>A (p.Ala1363Glu)
c.4037C>A (p.Ala1346Glu)
c.1169C>A (p.Ala390Glu)
18g.33744053C=CA2294857968ASXL3c.4208C= (p.Ala1403=)
c.4205C= (p.Ala1402=)
c.4085C= (p.Ala1362=)
c.4181C= (p.Ala1394=)
c.4127C= (p.Ala1376=)
c.4088C= (p.Ala1363=)
c.4037C= (p.Ala1346=)
c.1169C= (p.Ala390=)
18g.33744053C>GCA402190429ASXL3c.4208C>G (p.Ala1403Gly)
c.4205C>G (p.Ala1402Gly)
c.4085C>G (p.Ala1362Gly)
c.4181C>G (p.Ala1394Gly)
c.4127C>G (p.Ala1376Gly)
c.4088C>G (p.Ala1363Gly)
c.4037C>G (p.Ala1346Gly)
c.1169C>G (p.Ala390Gly)
18g.33744053C>TCA8934198ASXL3c.4208C>T (p.Ala1403Val)
c.4205C>T (p.Ala1402Val)
c.4085C>T (p.Ala1362Val)
c.4181C>T (p.Ala1394Val)
c.4127C>T (p.Ala1376Val)
c.4088C>T (p.Ala1363Val)
c.4037C>T (p.Ala1346Val)
c.1169C>T (p.Ala390Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744054G>ACA8934199ASXL3c.4209G>A (p.Ala1403=)
c.4206G>A (p.Ala1402=)
c.4086G>A (p.Ala1362=)
c.4182G>A (p.Ala1394=)
c.4128G>A (p.Ala1376=)
c.4089G>A (p.Ala1363=)
c.4038G>A (p.Ala1346=)
c.1170G>A (p.Ala390=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744054G>CCA503770203ASXL3c.4209G>C (p.Ala1403=)
c.4206G>C (p.Ala1402=)
c.4086G>C (p.Ala1362=)
c.4182G>C (p.Ala1394=)
c.4128G>C (p.Ala1376=)
c.4089G>C (p.Ala1363=)
c.4038G>C (p.Ala1346=)
c.1170G>C (p.Ala390=)
18g.33744054G=CA2294857969ASXL3c.4209G= (p.Ala1403=)
c.4206G= (p.Ala1402=)
c.4086G= (p.Ala1362=)
c.4182G= (p.Ala1394=)
c.4128G= (p.Ala1376=)
c.4089G= (p.Ala1363=)
c.4038G= (p.Ala1346=)
c.1170G= (p.Ala390=)
18g.33744054G>TCA8934200ASXL3c.4209G>T (p.Ala1403=)
c.4206G>T (p.Ala1402=)
c.4086G>T (p.Ala1362=)
c.4182G>T (p.Ala1394=)
c.4128G>T (p.Ala1376=)
c.4089G>T (p.Ala1363=)
c.4038G>T (p.Ala1346=)
c.1170G>T (p.Ala390=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744055G>ACA402190432ASXL3c.4210G>A (p.Val1404Ile)
c.4207G>A (p.Val1403Ile)
c.4087G>A (p.Val1363Ile)
c.4183G>A (p.Val1395Ile)
c.4129G>A (p.Val1377Ile)
c.4090G>A (p.Val1364Ile)
c.4039G>A (p.Val1347Ile)
c.1171G>A (p.Val391Ile)
 gnomAD v4 COSMIC
18g.33744055G>CCA402190431ASXL3c.4210G>C (p.Val1404Leu)
c.4207G>C (p.Val1403Leu)
c.4087G>C (p.Val1363Leu)
c.4183G>C (p.Val1395Leu)
c.4129G>C (p.Val1377Leu)
c.4090G>C (p.Val1364Leu)
c.4039G>C (p.Val1347Leu)
c.1171G>C (p.Val391Leu)
18g.33744055G>TCA402190430ASXL3c.4210G>T (p.Val1404Phe)
c.4207G>T (p.Val1403Phe)
c.4087G>T (p.Val1363Phe)
c.4183G>T (p.Val1395Phe)
c.4129G>T (p.Val1377Phe)
c.4090G>T (p.Val1364Phe)
c.4039G>T (p.Val1347Phe)
c.1171G>T (p.Val391Phe)
18g.33744056T>ACA402190433ASXL3c.4211T>A (p.Val1404Asp)
c.4208T>A (p.Val1403Asp)
c.4088T>A (p.Val1363Asp)
c.4184T>A (p.Val1395Asp)
c.4130T>A (p.Val1377Asp)
c.4091T>A (p.Val1364Asp)
c.4040T>A (p.Val1347Asp)
c.1172T>A (p.Val391Asp)
18g.33744056T>CCA402190435ASXL3c.4211T>C (p.Val1404Ala)
c.4208T>C (p.Val1403Ala)
c.4088T>C (p.Val1363Ala)
c.4184T>C (p.Val1395Ala)
c.4130T>C (p.Val1377Ala)
c.4091T>C (p.Val1364Ala)
c.4040T>C (p.Val1347Ala)
c.1172T>C (p.Val391Ala)
18g.33744056T>GCA402190434ASXL3c.4211T>G (p.Val1404Gly)
c.4208T>G (p.Val1403Gly)
c.4088T>G (p.Val1363Gly)
c.4184T>G (p.Val1395Gly)
c.4130T>G (p.Val1377Gly)
c.4091T>G (p.Val1364Gly)
c.4040T>G (p.Val1347Gly)
c.1172T>G (p.Val391Gly)
18g.33744056_33744058delinsTCACA2294857970ASXL3c.4211_4213delinsTCA (p.Val1404=)
c.4208_4210delinsTCA (p.Val1403=)
c.4088_4090delinsTCA (p.Val1363=)
c.4184_4186delinsTCA (p.Val1395=)
c.4130_4132delinsTCA (p.Val1377=)
c.4091_4093delinsTCA (p.Val1364=)
c.4040_4042delinsTCA (p.Val1347=)
c.1172_1174delinsTCA (p.Val391=)
18g.33744057C>ACA503770216ASXL3c.4212C>A (p.Val1404=)
c.4209C>A (p.Val1403=)
c.4089C>A (p.Val1363=)
c.4185C>A (p.Val1395=)
c.4131C>A (p.Val1377=)
c.4092C>A (p.Val1364=)
c.4041C>A (p.Val1347=)
c.1173C>A (p.Val391=)
18g.33744057C=CA2294857971ASXL3c.4212C= (p.Val1404=)
c.4209C= (p.Val1403=)
c.4089C= (p.Val1363=)
c.4185C= (p.Val1395=)
c.4131C= (p.Val1377=)
c.4092C= (p.Val1364=)
c.4041C= (p.Val1347=)
c.1173C= (p.Val391=)
18g.33744057C>GCA503770217ASXL3c.4212C>G (p.Val1404=)
c.4209C>G (p.Val1403=)
c.4089C>G (p.Val1363=)
c.4185C>G (p.Val1395=)
c.4131C>G (p.Val1377=)
c.4092C>G (p.Val1364=)
c.4041C>G (p.Val1347=)
c.1173C>G (p.Val391=)
 dbSNP gnomAD v4
18g.33744057C>TCA503770215ASXL3c.4212C>T (p.Val1404=)
c.4209C>T (p.Val1403=)
c.4089C>T (p.Val1363=)
c.4185C>T (p.Val1395=)
c.4131C>T (p.Val1377=)
c.4092C>T (p.Val1364=)
c.4041C>T (p.Val1347=)
c.1173C>T (p.Val391=)
18g.33744059_33744060delCA658656736ASXL3c.4214_4215del (p.Thr1405ArgfsTer23)
c.4211_4212del (p.Thr1404ArgfsTer23)
c.4091_4092del (p.Thr1364ArgfsTer23)
c.4187_4188del (p.Thr1396ArgfsTer23)
c.4133_4134del (p.Thr1378ArgfsTer23)
c.4094_4095del (p.Thr1365ArgfsTer23)
c.4043_4044del (p.Thr1348ArgfsTer23)
c.1175_1176del (p.Thr392ArgfsTer23)
 ClinVar dbSNP
18g.33744058A>CCA402190436ASXL3c.4213A>C (p.Thr1405Pro)
c.4210A>C (p.Thr1404Pro)
c.4090A>C (p.Thr1364Pro)
c.4186A>C (p.Thr1396Pro)
c.4132A>C (p.Thr1378Pro)
c.4093A>C (p.Thr1365Pro)
c.4042A>C (p.Thr1348Pro)
c.1174A>C (p.Thr392Pro)
18g.33744058A>GCA402190437ASXL3c.4213A>G (p.Thr1405Ala)
c.4210A>G (p.Thr1404Ala)
c.4090A>G (p.Thr1364Ala)
c.4186A>G (p.Thr1396Ala)
c.4132A>G (p.Thr1378Ala)
c.4093A>G (p.Thr1365Ala)
c.4042A>G (p.Thr1348Ala)
c.1174A>G (p.Thr392Ala)
 gnomAD v4
18g.33744058A>TCA402190438ASXL3c.4213A>T (p.Thr1405Ser)
c.4210A>T (p.Thr1404Ser)
c.4090A>T (p.Thr1364Ser)
c.4186A>T (p.Thr1396Ser)
c.4132A>T (p.Thr1378Ser)
c.4093A>T (p.Thr1365Ser)
c.4042A>T (p.Thr1348Ser)
c.1174A>T (p.Thr392Ser)
18g.33744059C>ACA402190439ASXL3c.4214C>A (p.Thr1405Lys)
c.4211C>A (p.Thr1404Lys)
c.4091C>A (p.Thr1364Lys)
c.4187C>A (p.Thr1396Lys)
c.4133C>A (p.Thr1378Lys)
c.4094C>A (p.Thr1365Lys)
c.4043C>A (p.Thr1348Lys)
c.1175C>A (p.Thr392Lys)
18g.33744059C=CA2294857972ASXL3c.4214C= (p.Thr1405=)
c.4211C= (p.Thr1404=)
c.4091C= (p.Thr1364=)
c.4187C= (p.Thr1396=)
c.4133C= (p.Thr1378=)
c.4094C= (p.Thr1365=)
c.4043C= (p.Thr1348=)
c.1175C= (p.Thr392=)
18g.33744059C>GCA8934201ASXL3c.4214C>G (p.Thr1405Arg)
c.4211C>G (p.Thr1404Arg)
c.4091C>G (p.Thr1364Arg)
c.4187C>G (p.Thr1396Arg)
c.4133C>G (p.Thr1378Arg)
c.4094C>G (p.Thr1365Arg)
c.4043C>G (p.Thr1348Arg)
c.1175C>G (p.Thr392Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744059C>TCA297793455ASXL3c.4214C>T (p.Thr1405Ile)
c.4211C>T (p.Thr1404Ile)
c.4091C>T (p.Thr1364Ile)
c.4187C>T (p.Thr1396Ile)
c.4133C>T (p.Thr1378Ile)
c.4094C>T (p.Thr1365Ile)
c.4043C>T (p.Thr1348Ile)
c.1175C>T (p.Thr392Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.33744060A>CCA503770228ASXL3c.4215A>C (p.Thr1405=)
c.4212A>C (p.Thr1404=)
c.4092A>C (p.Thr1364=)
c.4188A>C (p.Thr1396=)
c.4134A>C (p.Thr1378=)
c.4095A>C (p.Thr1365=)
c.4044A>C (p.Thr1348=)
c.1176A>C (p.Thr392=)
18g.33744060A>GCA503770227ASXL3c.4215A>G (p.Thr1405=)
c.4212A>G (p.Thr1404=)
c.4092A>G (p.Thr1364=)
c.4188A>G (p.Thr1396=)
c.4134A>G (p.Thr1378=)
c.4095A>G (p.Thr1365=)
c.4044A>G (p.Thr1348=)
c.1176A>G (p.Thr392=)
18g.33744060A>TCA503770226ASXL3c.4215A>T (p.Thr1405=)
c.4212A>T (p.Thr1404=)
c.4092A>T (p.Thr1364=)
c.4188A>T (p.Thr1396=)
c.4134A>T (p.Thr1378=)
c.4095A>T (p.Thr1365=)
c.4044A>T (p.Thr1348=)
c.1176A>T (p.Thr392=)
18g.33744061G>ACA402190440ASXL3c.4216G>A (p.Asp1406Asn)
c.4213G>A (p.Asp1405Asn)
c.4093G>A (p.Asp1365Asn)
c.4189G>A (p.Asp1397Asn)
c.4135G>A (p.Asp1379Asn)
c.4096G>A (p.Asp1366Asn)
c.4045G>A (p.Asp1349Asn)
c.1177G>A (p.Asp393Asn)
18g.33744061G>CCA402190441ASXL3c.4216G>C (p.Asp1406His)
c.4213G>C (p.Asp1405His)
c.4093G>C (p.Asp1365His)
c.4189G>C (p.Asp1397His)
c.4135G>C (p.Asp1379His)
c.4096G>C (p.Asp1366His)
c.4045G>C (p.Asp1349His)
c.1177G>C (p.Asp393His)
 gnomAD v4
18g.33744061G>TCA402190442ASXL3c.4216G>T (p.Asp1406Tyr)
c.4213G>T (p.Asp1405Tyr)
c.4093G>T (p.Asp1365Tyr)
c.4189G>T (p.Asp1397Tyr)
c.4135G>T (p.Asp1379Tyr)
c.4096G>T (p.Asp1366Tyr)
c.4045G>T (p.Asp1349Tyr)
c.1177G>T (p.Asp393Tyr)
18g.33744062A>CCA402190443ASXL3c.4217A>C (p.Asp1406Ala)
c.4214A>C (p.Asp1405Ala)
c.4094A>C (p.Asp1365Ala)
c.4190A>C (p.Asp1397Ala)
c.4136A>C (p.Asp1379Ala)
c.4097A>C (p.Asp1366Ala)
c.4046A>C (p.Asp1349Ala)
c.1178A>C (p.Asp393Ala)
18g.33744062A>GCA402190444ASXL3c.4217A>G (p.Asp1406Gly)
c.4214A>G (p.Asp1405Gly)
c.4094A>G (p.Asp1365Gly)
c.4190A>G (p.Asp1397Gly)
c.4136A>G (p.Asp1379Gly)
c.4097A>G (p.Asp1366Gly)
c.4046A>G (p.Asp1349Gly)
c.1178A>G (p.Asp393Gly)
18g.33744062A>TCA402190445ASXL3c.4217A>T (p.Asp1406Val)
c.4214A>T (p.Asp1405Val)
c.4094A>T (p.Asp1365Val)
c.4190A>T (p.Asp1397Val)
c.4136A>T (p.Asp1379Val)
c.4097A>T (p.Asp1366Val)
c.4046A>T (p.Asp1349Val)
c.1178A>T (p.Asp393Val)
18g.33744062_33744064delinsACTCA2294857973ASXL3c.4217_4219delinsACT (p.Asp1406=)
c.4214_4216delinsACT (p.Asp1405=)
c.4094_4096delinsACT (p.Asp1365=)
c.4190_4192delinsACT (p.Asp1397=)
c.4136_4138delinsACT (p.Asp1379=)
c.4097_4099delinsACT (p.Asp1366=)
c.4046_4048delinsACT (p.Asp1349=)
c.1178_1180delinsACT (p.Asp393=)

Number of alleles fetched