Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.33740509_33743845delinsAGAAGCCTAGGTGTACCA2740091793ASXL3c.3042+66_4000delinsAGAAGCCTAGGTGTAC
c.3039+66_3997delinsAGAAGCCTAGGTGTAC
c.2919+66_3877delinsAGAAGCCTAGGTGTAC
c.3015+66_3973delinsAGAAGCCTAGGTGTAC
c.2961+66_3919delinsAGAAGCCTAGGTGTAC
c.2922+66_3880delinsAGAAGCCTAGGTGTAC
c.2871+66_3829delinsAGAAGCCTAGGTGTAC
 ClinVar
18g.33743834G>ACA402189280ASXL3c.3989G>A (p.Ser1330Asn)
c.3986G>A (p.Ser1329Asn)
c.3866G>A (p.Ser1289Asn)
c.3962G>A (p.Ser1321Asn)
c.3908G>A (p.Ser1303Asn)
c.3869G>A (p.Ser1290Asn)
c.3818G>A (p.Ser1273Asn)
c.950G>A (p.Ser317Asn)
18g.33743834G>CCA402189283ASXL3c.3989G>C (p.Ser1330Thr)
c.3986G>C (p.Ser1329Thr)
c.3866G>C (p.Ser1289Thr)
c.3962G>C (p.Ser1321Thr)
c.3908G>C (p.Ser1303Thr)
c.3869G>C (p.Ser1290Thr)
c.3818G>C (p.Ser1273Thr)
c.950G>C (p.Ser317Thr)
18g.33743834G>TCA402189286ASXL3c.3989G>T (p.Ser1330Ile)
c.3986G>T (p.Ser1329Ile)
c.3866G>T (p.Ser1289Ile)
c.3962G>T (p.Ser1321Ile)
c.3908G>T (p.Ser1303Ile)
c.3869G>T (p.Ser1290Ile)
c.3818G>T (p.Ser1273Ile)
c.950G>T (p.Ser317Ile)
18g.33743835T>ACA402189290ASXL3c.3990T>A (p.Ser1330Arg)
c.3987T>A (p.Ser1329Arg)
c.3867T>A (p.Ser1289Arg)
c.3963T>A (p.Ser1321Arg)
c.3909T>A (p.Ser1303Arg)
c.3870T>A (p.Ser1290Arg)
c.3819T>A (p.Ser1273Arg)
c.951T>A (p.Ser317Arg)
18g.33743835T>CCA503770256ASXL3c.3990T>C (p.Ser1330=)
c.3987T>C (p.Ser1329=)
c.3867T>C (p.Ser1289=)
c.3963T>C (p.Ser1321=)
c.3909T>C (p.Ser1303=)
c.3870T>C (p.Ser1290=)
c.3819T>C (p.Ser1273=)
c.951T>C (p.Ser317=)
 gnomAD v4
18g.33743835T>GCA402189292ASXL3c.3990T>G (p.Ser1330Arg)
c.3987T>G (p.Ser1329Arg)
c.3867T>G (p.Ser1289Arg)
c.3963T>G (p.Ser1321Arg)
c.3909T>G (p.Ser1303Arg)
c.3870T>G (p.Ser1290Arg)
c.3819T>G (p.Ser1273Arg)
c.951T>G (p.Ser317Arg)
18g.33743836G>ACA297793263ASXL3c.3991G>A (p.Ala1331Thr)
c.3988G>A (p.Ala1330Thr)
c.3868G>A (p.Ala1290Thr)
c.3964G>A (p.Ala1322Thr)
c.3910G>A (p.Ala1304Thr)
c.3871G>A (p.Ala1291Thr)
c.3820G>A (p.Ala1274Thr)
c.952G>A (p.Ala318Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743836G>CCA402189297ASXL3c.3991G>C (p.Ala1331Pro)
c.3988G>C (p.Ala1330Pro)
c.3868G>C (p.Ala1290Pro)
c.3964G>C (p.Ala1322Pro)
c.3910G>C (p.Ala1304Pro)
c.3871G>C (p.Ala1291Pro)
c.3820G>C (p.Ala1274Pro)
c.952G>C (p.Ala318Pro)
18g.33743836G=CA2294857862ASXL3c.3991G= (p.Ala1331=)
c.3988G= (p.Ala1330=)
c.3868G= (p.Ala1290=)
c.3964G= (p.Ala1322=)
c.3910G= (p.Ala1304=)
c.3871G= (p.Ala1291=)
c.3820G= (p.Ala1274=)
c.952G= (p.Ala318=)
18g.33743836G>TCA402189299ASXL3c.3991G>T (p.Ala1331Ser)
c.3988G>T (p.Ala1330Ser)
c.3868G>T (p.Ala1290Ser)
c.3964G>T (p.Ala1322Ser)
c.3910G>T (p.Ala1304Ser)
c.3871G>T (p.Ala1291Ser)
c.3820G>T (p.Ala1274Ser)
c.952G>T (p.Ala318Ser)
18g.33743837C>ACA402189306ASXL3c.3992C>A (p.Ala1331Asp)
c.3989C>A (p.Ala1330Asp)
c.3869C>A (p.Ala1290Asp)
c.3965C>A (p.Ala1322Asp)
c.3911C>A (p.Ala1304Asp)
c.3872C>A (p.Ala1291Asp)
c.3821C>A (p.Ala1274Asp)
c.953C>A (p.Ala318Asp)
 COSMIC
18g.33743837C=CA2294857863ASXL3c.3992C= (p.Ala1331=)
c.3989C= (p.Ala1330=)
c.3869C= (p.Ala1290=)
c.3965C= (p.Ala1322=)
c.3911C= (p.Ala1304=)
c.3872C= (p.Ala1291=)
c.3821C= (p.Ala1274=)
c.953C= (p.Ala318=)
18g.33743837C>GCA402189309ASXL3c.3992C>G (p.Ala1331Gly)
c.3989C>G (p.Ala1330Gly)
c.3869C>G (p.Ala1290Gly)
c.3965C>G (p.Ala1322Gly)
c.3911C>G (p.Ala1304Gly)
c.3872C>G (p.Ala1291Gly)
c.3821C>G (p.Ala1274Gly)
c.953C>G (p.Ala318Gly)
18g.33743837C>TCA402189304ASXL3c.3992C>T (p.Ala1331Val)
c.3989C>T (p.Ala1330Val)
c.3869C>T (p.Ala1290Val)
c.3965C>T (p.Ala1322Val)
c.3911C>T (p.Ala1304Val)
c.3872C>T (p.Ala1291Val)
c.3821C>T (p.Ala1274Val)
c.953C>T (p.Ala318Val)
 dbSNP gnomAD v4
18g.33743838T>ACA503770268ASXL3c.3993T>A (p.Ala1331=)
c.3990T>A (p.Ala1330=)
c.3870T>A (p.Ala1290=)
c.3966T>A (p.Ala1322=)
c.3912T>A (p.Ala1304=)
c.3873T>A (p.Ala1291=)
c.3822T>A (p.Ala1274=)
c.954T>A (p.Ala318=)
18g.33743838T>CCA503770270ASXL3c.3993T>C (p.Ala1331=)
c.3990T>C (p.Ala1330=)
c.3870T>C (p.Ala1290=)
c.3966T>C (p.Ala1322=)
c.3912T>C (p.Ala1304=)
c.3873T>C (p.Ala1291=)
c.3822T>C (p.Ala1274=)
c.954T>C (p.Ala318=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743838T>GCA503770272ASXL3c.3993T>G (p.Ala1331=)
c.3990T>G (p.Ala1330=)
c.3870T>G (p.Ala1290=)
c.3966T>G (p.Ala1322=)
c.3912T>G (p.Ala1304=)
c.3873T>G (p.Ala1291=)
c.3822T>G (p.Ala1274=)
c.954T>G (p.Ala318=)
18g.33743838T=CA2294857864ASXL3c.3993T= (p.Ala1331=)
c.3990T= (p.Ala1330=)
c.3870T= (p.Ala1290=)
c.3966T= (p.Ala1322=)
c.3912T= (p.Ala1304=)
c.3873T= (p.Ala1291=)
c.3822T= (p.Ala1274=)
c.954T= (p.Ala318=)
18g.33743839A>CCA402189317ASXL3c.3994A>C (p.Ser1332Arg)
c.3991A>C (p.Ser1331Arg)
c.3871A>C (p.Ser1291Arg)
c.3967A>C (p.Ser1323Arg)
c.3913A>C (p.Ser1305Arg)
c.3874A>C (p.Ser1292Arg)
c.3823A>C (p.Ser1275Arg)
c.955A>C (p.Ser319Arg)
18g.33743839A>GCA402189313ASXL3c.3994A>G (p.Ser1332Gly)
c.3991A>G (p.Ser1331Gly)
c.3871A>G (p.Ser1291Gly)
c.3967A>G (p.Ser1323Gly)
c.3913A>G (p.Ser1305Gly)
c.3874A>G (p.Ser1292Gly)
c.3823A>G (p.Ser1275Gly)
c.955A>G (p.Ser319Gly)
18g.33743839A>TCA402189315ASXL3c.3994A>T (p.Ser1332Cys)
c.3991A>T (p.Ser1331Cys)
c.3871A>T (p.Ser1291Cys)
c.3967A>T (p.Ser1323Cys)
c.3913A>T (p.Ser1305Cys)
c.3874A>T (p.Ser1292Cys)
c.3823A>T (p.Ser1275Cys)
c.955A>T (p.Ser319Cys)
18g.33743840G>ACA402189321ASXL3c.3995G>A (p.Ser1332Asn)
c.3992G>A (p.Ser1331Asn)
c.3872G>A (p.Ser1291Asn)
c.3968G>A (p.Ser1323Asn)
c.3914G>A (p.Ser1305Asn)
c.3875G>A (p.Ser1292Asn)
c.3824G>A (p.Ser1275Asn)
c.956G>A (p.Ser319Asn)
 dbSNP gnomAD v2
18g.33743840G>CCA402189323ASXL3c.3995G>C (p.Ser1332Thr)
c.3992G>C (p.Ser1331Thr)
c.3872G>C (p.Ser1291Thr)
c.3968G>C (p.Ser1323Thr)
c.3914G>C (p.Ser1305Thr)
c.3875G>C (p.Ser1292Thr)
c.3824G>C (p.Ser1275Thr)
c.956G>C (p.Ser319Thr)
18g.33743840G=CA2294857865ASXL3c.3995G= (p.Ser1332=)
c.3992G= (p.Ser1331=)
c.3872G= (p.Ser1291=)
c.3968G= (p.Ser1323=)
c.3914G= (p.Ser1305=)
c.3875G= (p.Ser1292=)
c.3824G= (p.Ser1275=)
c.956G= (p.Ser319=)
18g.33743840G>TCA402189326ASXL3c.3995G>T (p.Ser1332Ile)
c.3992G>T (p.Ser1331Ile)
c.3872G>T (p.Ser1291Ile)
c.3968G>T (p.Ser1323Ile)
c.3914G>T (p.Ser1305Ile)
c.3875G>T (p.Ser1292Ile)
c.3824G>T (p.Ser1275Ile)
c.956G>T (p.Ser319Ile)
18g.33743841T>ACA402189330ASXL3c.3996T>A (p.Ser1332Arg)
c.3993T>A (p.Ser1331Arg)
c.3873T>A (p.Ser1291Arg)
c.3969T>A (p.Ser1323Arg)
c.3915T>A (p.Ser1305Arg)
c.3876T>A (p.Ser1292Arg)
c.3825T>A (p.Ser1275Arg)
c.957T>A (p.Ser319Arg)
 COSMIC
18g.33743841T>CCA503770283ASXL3c.3996T>C (p.Ser1332=)
c.3993T>C (p.Ser1331=)
c.3873T>C (p.Ser1291=)
c.3969T>C (p.Ser1323=)
c.3915T>C (p.Ser1305=)
c.3876T>C (p.Ser1292=)
c.3825T>C (p.Ser1275=)
c.957T>C (p.Ser319=)
18g.33743841T>GCA402189331ASXL3c.3996T>G (p.Ser1332Arg)
c.3993T>G (p.Ser1331Arg)
c.3873T>G (p.Ser1291Arg)
c.3969T>G (p.Ser1323Arg)
c.3915T>G (p.Ser1305Arg)
c.3876T>G (p.Ser1292Arg)
c.3825T>G (p.Ser1275Arg)
c.957T>G (p.Ser319Arg)
18g.33743842A>CCA402189334ASXL3c.3997A>C (p.Asn1333His)
c.3994A>C (p.Asn1332His)
c.3874A>C (p.Asn1292His)
c.3970A>C (p.Asn1324His)
c.3916A>C (p.Asn1306His)
c.3877A>C (p.Asn1293His)
c.3826A>C (p.Asn1276His)
c.958A>C (p.Asn320His)
18g.33743842A>GCA402189336ASXL3c.3997A>G (p.Asn1333Asp)
c.3994A>G (p.Asn1332Asp)
c.3874A>G (p.Asn1292Asp)
c.3970A>G (p.Asn1324Asp)
c.3916A>G (p.Asn1306Asp)
c.3877A>G (p.Asn1293Asp)
c.3826A>G (p.Asn1276Asp)
c.958A>G (p.Asn320Asp)
18g.33743842A>TCA402189338ASXL3c.3997A>T (p.Asn1333Tyr)
c.3994A>T (p.Asn1332Tyr)
c.3874A>T (p.Asn1292Tyr)
c.3970A>T (p.Asn1324Tyr)
c.3916A>T (p.Asn1306Tyr)
c.3877A>T (p.Asn1293Tyr)
c.3826A>T (p.Asn1276Tyr)
c.958A>T (p.Asn320Tyr)
18g.33743843A>CCA402189340ASXL3c.3998A>C (p.Asn1333Thr)
c.3995A>C (p.Asn1332Thr)
c.3875A>C (p.Asn1292Thr)
c.3971A>C (p.Asn1324Thr)
c.3917A>C (p.Asn1306Thr)
c.3878A>C (p.Asn1293Thr)
c.3827A>C (p.Asn1276Thr)
c.959A>C (p.Asn320Thr)
18g.33743843A>GCA402189343ASXL3c.3998A>G (p.Asn1333Ser)
c.3995A>G (p.Asn1332Ser)
c.3875A>G (p.Asn1292Ser)
c.3971A>G (p.Asn1324Ser)
c.3917A>G (p.Asn1306Ser)
c.3878A>G (p.Asn1293Ser)
c.3827A>G (p.Asn1276Ser)
c.959A>G (p.Asn320Ser)
18g.33743843A>TCA402189345ASXL3c.3998A>T (p.Asn1333Ile)
c.3995A>T (p.Asn1332Ile)
c.3875A>T (p.Asn1292Ile)
c.3971A>T (p.Asn1324Ile)
c.3917A>T (p.Asn1306Ile)
c.3878A>T (p.Asn1293Ile)
c.3827A>T (p.Asn1276Ile)
c.959A>T (p.Asn320Ile)
 gnomAD v4
18g.33743844C>ACA402189351ASXL3c.3999C>A (p.Asn1333Lys)
c.3996C>A (p.Asn1332Lys)
c.3876C>A (p.Asn1292Lys)
c.3972C>A (p.Asn1324Lys)
c.3918C>A (p.Asn1306Lys)
c.3879C>A (p.Asn1293Lys)
c.3828C>A (p.Asn1276Lys)
c.960C>A (p.Asn320Lys)
18g.33743844C=CA2294857866ASXL3c.3999C= (p.Asn1333=)
c.3996C= (p.Asn1332=)
c.3876C= (p.Asn1292=)
c.3972C= (p.Asn1324=)
c.3918C= (p.Asn1306=)
c.3879C= (p.Asn1293=)
c.3828C= (p.Asn1276=)
c.960C= (p.Asn320=)
18g.33743844C>GCA402189348ASXL3c.3999C>G (p.Asn1333Lys)
c.3996C>G (p.Asn1332Lys)
c.3876C>G (p.Asn1292Lys)
c.3972C>G (p.Asn1324Lys)
c.3918C>G (p.Asn1306Lys)
c.3879C>G (p.Asn1293Lys)
c.3828C>G (p.Asn1276Lys)
c.960C>G (p.Asn320Lys)
 dbSNP gnomAD v4
18g.33743844C>TCA503770290ASXL3c.3999C>T (p.Asn1333=)
c.3996C>T (p.Asn1332=)
c.3876C>T (p.Asn1292=)
c.3972C>T (p.Asn1324=)
c.3918C>T (p.Asn1306=)
c.3879C>T (p.Asn1293=)
c.3828C>T (p.Asn1276=)
c.960C>T (p.Asn320=)
18g.33743845T>ACA402189355ASXL3c.4000T>A (p.Leu1334Ile)
c.3997T>A (p.Leu1333Ile)
c.3877T>A (p.Leu1293Ile)
c.3973T>A (p.Leu1325Ile)
c.3919T>A (p.Leu1307Ile)
c.3880T>A (p.Leu1294Ile)
c.3829T>A (p.Leu1277Ile)
c.961T>A (p.Leu321Ile)
18g.33743845T>CCA503770295ASXL3c.4000T>C (p.Leu1334=)
c.3997T>C (p.Leu1333=)
c.3877T>C (p.Leu1293=)
c.3973T>C (p.Leu1325=)
c.3919T>C (p.Leu1307=)
c.3880T>C (p.Leu1294=)
c.3829T>C (p.Leu1277=)
c.961T>C (p.Leu321=)
18g.33743845T>GCA402189356ASXL3c.4000T>G (p.Leu1334Val)
c.3997T>G (p.Leu1333Val)
c.3877T>G (p.Leu1293Val)
c.3973T>G (p.Leu1325Val)
c.3919T>G (p.Leu1307Val)
c.3880T>G (p.Leu1294Val)
c.3829T>G (p.Leu1277Val)
c.961T>G (p.Leu321Val)
18g.33743846T>ACA402189360ASXL3c.4001T>A (p.Leu1334Ter)
c.3998T>A (p.Leu1333Ter)
c.3878T>A (p.Leu1293Ter)
c.3974T>A (p.Leu1325Ter)
c.3920T>A (p.Leu1307Ter)
c.3881T>A (p.Leu1294Ter)
c.3830T>A (p.Leu1277Ter)
c.962T>A (p.Leu321Ter)
18g.33743846T>CCA402189363ASXL3c.4001T>C (p.Leu1334Ser)
c.3998T>C (p.Leu1333Ser)
c.3878T>C (p.Leu1293Ser)
c.3974T>C (p.Leu1325Ser)
c.3920T>C (p.Leu1307Ser)
c.3881T>C (p.Leu1294Ser)
c.3830T>C (p.Leu1277Ser)
c.962T>C (p.Leu321Ser)
18g.33743846T>GCA402189365ASXL3c.4001T>G (p.Leu1334Ter)
c.3998T>G (p.Leu1333Ter)
c.3878T>G (p.Leu1293Ter)
c.3974T>G (p.Leu1325Ter)
c.3920T>G (p.Leu1307Ter)
c.3881T>G (p.Leu1294Ter)
c.3830T>G (p.Leu1277Ter)
c.962T>G (p.Leu321Ter)
18g.33743847A>CCA402189367ASXL3c.4002A>C (p.Leu1334Phe)
c.3999A>C (p.Leu1333Phe)
c.3879A>C (p.Leu1293Phe)
c.3975A>C (p.Leu1325Phe)
c.3921A>C (p.Leu1307Phe)
c.3882A>C (p.Leu1294Phe)
c.3831A>C (p.Leu1277Phe)
c.963A>C (p.Leu321Phe)
18g.33743847A>GCA503770302ASXL3c.4002A>G (p.Leu1334=)
c.3999A>G (p.Leu1333=)
c.3879A>G (p.Leu1293=)
c.3975A>G (p.Leu1325=)
c.3921A>G (p.Leu1307=)
c.3882A>G (p.Leu1294=)
c.3831A>G (p.Leu1277=)
c.963A>G (p.Leu321=)
18g.33743847A>TCA402189370ASXL3c.4002A>T (p.Leu1334Phe)
c.3999A>T (p.Leu1333Phe)
c.3879A>T (p.Leu1293Phe)
c.3975A>T (p.Leu1325Phe)
c.3921A>T (p.Leu1307Phe)
c.3882A>T (p.Leu1294Phe)
c.3831A>T (p.Leu1277Phe)
c.963A>T (p.Leu321Phe)
18g.33743848G>ACA402189374ASXL3c.4003G>A (p.Val1335Ile)
c.4000G>A (p.Val1334Ile)
c.3880G>A (p.Val1294Ile)
c.3976G>A (p.Val1326Ile)
c.3922G>A (p.Val1308Ile)
c.3883G>A (p.Val1295Ile)
c.3832G>A (p.Val1278Ile)
c.964G>A (p.Val322Ile)
 dbSNP gnomAD v4
18g.33743848G>CCA402189377ASXL3c.4003G>C (p.Val1335Leu)
c.4000G>C (p.Val1334Leu)
c.3880G>C (p.Val1294Leu)
c.3976G>C (p.Val1326Leu)
c.3922G>C (p.Val1308Leu)
c.3883G>C (p.Val1295Leu)
c.3832G>C (p.Val1278Leu)
c.964G>C (p.Val322Leu)
18g.33743848G>TCA402189380ASXL3c.4003G>T (p.Val1335Phe)
c.4000G>T (p.Val1334Phe)
c.3880G>T (p.Val1294Phe)
c.3976G>T (p.Val1326Phe)
c.3922G>T (p.Val1308Phe)
c.3883G>T (p.Val1295Phe)
c.3832G>T (p.Val1278Phe)
c.964G>T (p.Val322Phe)
18g.33743849T>ACA402189385ASXL3c.4004T>A (p.Val1335Asp)
c.4001T>A (p.Val1334Asp)
c.3881T>A (p.Val1294Asp)
c.3977T>A (p.Val1326Asp)
c.3923T>A (p.Val1308Asp)
c.3884T>A (p.Val1295Asp)
c.3833T>A (p.Val1278Asp)
c.965T>A (p.Val322Asp)
18g.33743849T>CCA402189389ASXL3c.4004T>C (p.Val1335Ala)
c.4001T>C (p.Val1334Ala)
c.3881T>C (p.Val1294Ala)
c.3977T>C (p.Val1326Ala)
c.3923T>C (p.Val1308Ala)
c.3884T>C (p.Val1295Ala)
c.3833T>C (p.Val1278Ala)
c.965T>C (p.Val322Ala)
18g.33743849T>GCA402189391ASXL3c.4004T>G (p.Val1335Gly)
c.4001T>G (p.Val1334Gly)
c.3881T>G (p.Val1294Gly)
c.3977T>G (p.Val1326Gly)
c.3923T>G (p.Val1308Gly)
c.3884T>G (p.Val1295Gly)
c.3833T>G (p.Val1278Gly)
c.965T>G (p.Val322Gly)
 gnomAD v4
18g.33743850C>ACA503770311ASXL3c.4005C>A (p.Val1335=)
c.4002C>A (p.Val1334=)
c.3882C>A (p.Val1294=)
c.3978C>A (p.Val1326=)
c.3924C>A (p.Val1308=)
c.3885C>A (p.Val1295=)
c.3834C>A (p.Val1278=)
c.966C>A (p.Val322=)
18g.33743850C=CA2294857867ASXL3c.4005C= (p.Val1335=)
c.4002C= (p.Val1334=)
c.3882C= (p.Val1294=)
c.3978C= (p.Val1326=)
c.3924C= (p.Val1308=)
c.3885C= (p.Val1295=)
c.3834C= (p.Val1278=)
c.966C= (p.Val322=)
18g.33743850C>GCA8934151ASXL3c.4005C>G (p.Val1335=)
c.4002C>G (p.Val1334=)
c.3882C>G (p.Val1294=)
c.3978C>G (p.Val1326=)
c.3924C>G (p.Val1308=)
c.3885C>G (p.Val1295=)
c.3834C>G (p.Val1278=)
c.966C>G (p.Val322=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743850C>TCA503770317ASXL3c.4005C>T (p.Val1335=)
c.4002C>T (p.Val1334=)
c.3882C>T (p.Val1294=)
c.3978C>T (p.Val1326=)
c.3924C>T (p.Val1308=)
c.3885C>T (p.Val1295=)
c.3834C>T (p.Val1278=)
c.966C>T (p.Val322=)
18g.33743851T>ACA402189402ASXL3c.4006T>A (p.Ser1336Thr)
c.4003T>A (p.Ser1335Thr)
c.3883T>A (p.Ser1295Thr)
c.3979T>A (p.Ser1327Thr)
c.3925T>A (p.Ser1309Thr)
c.3886T>A (p.Ser1296Thr)
c.3835T>A (p.Ser1279Thr)
c.967T>A (p.Ser323Thr)
18g.33743851T>CCA402189396ASXL3c.4006T>C (p.Ser1336Pro)
c.4003T>C (p.Ser1335Pro)
c.3883T>C (p.Ser1295Pro)
c.3979T>C (p.Ser1327Pro)
c.3925T>C (p.Ser1309Pro)
c.3886T>C (p.Ser1296Pro)
c.3835T>C (p.Ser1279Pro)
c.967T>C (p.Ser323Pro)
 dbSNP gnomAD v3 gnomAD v4
18g.33743851T>GCA402189399ASXL3c.4006T>G (p.Ser1336Ala)
c.4003T>G (p.Ser1335Ala)
c.3883T>G (p.Ser1295Ala)
c.3979T>G (p.Ser1327Ala)
c.3925T>G (p.Ser1309Ala)
c.3886T>G (p.Ser1296Ala)
c.3835T>G (p.Ser1279Ala)
c.967T>G (p.Ser323Ala)
18g.33743851T=CA2294857868ASXL3c.4006T= (p.Ser1336=)
c.4003T= (p.Ser1335=)
c.3883T= (p.Ser1295=)
c.3979T= (p.Ser1327=)
c.3925T= (p.Ser1309=)
c.3886T= (p.Ser1296=)
c.3835T= (p.Ser1279=)
c.967T= (p.Ser323=)
18g.33743852C>ACA402189406ASXL3c.4007C>A (p.Ser1336Tyr)
c.4004C>A (p.Ser1335Tyr)
c.3884C>A (p.Ser1295Tyr)
c.3980C>A (p.Ser1327Tyr)
c.3926C>A (p.Ser1309Tyr)
c.3887C>A (p.Ser1296Tyr)
c.3836C>A (p.Ser1279Tyr)
c.968C>A (p.Ser323Tyr)
18g.33743852C=CA2294857869ASXL3c.4007C= (p.Ser1336=)
c.4004C= (p.Ser1335=)
c.3884C= (p.Ser1295=)
c.3980C= (p.Ser1327=)
c.3926C= (p.Ser1309=)
c.3887C= (p.Ser1296=)
c.3836C= (p.Ser1279=)
c.968C= (p.Ser323=)
18g.33743852C>GCA402189409ASXL3c.4007C>G (p.Ser1336Cys)
c.4004C>G (p.Ser1335Cys)
c.3884C>G (p.Ser1295Cys)
c.3980C>G (p.Ser1327Cys)
c.3926C>G (p.Ser1309Cys)
c.3887C>G (p.Ser1296Cys)
c.3836C>G (p.Ser1279Cys)
c.968C>G (p.Ser323Cys)
18g.33743852C>TCA402189412ASXL3c.4007C>T (p.Ser1336Phe)
c.4004C>T (p.Ser1335Phe)
c.3884C>T (p.Ser1295Phe)
c.3980C>T (p.Ser1327Phe)
c.3926C>T (p.Ser1309Phe)
c.3887C>T (p.Ser1296Phe)
c.3836C>T (p.Ser1279Phe)
c.968C>T (p.Ser323Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743853C>ACA503770322ASXL3c.4008C>A (p.Ser1336=)
c.4005C>A (p.Ser1335=)
c.3885C>A (p.Ser1295=)
c.3981C>A (p.Ser1327=)
c.3927C>A (p.Ser1309=)
c.3888C>A (p.Ser1296=)
c.3837C>A (p.Ser1279=)
c.969C>A (p.Ser323=)
18g.33743853C=CA2294857870ASXL3c.4008C= (p.Ser1336=)
c.4005C= (p.Ser1335=)
c.3885C= (p.Ser1295=)
c.3981C= (p.Ser1327=)
c.3927C= (p.Ser1309=)
c.3888C= (p.Ser1296=)
c.3837C= (p.Ser1279=)
c.969C= (p.Ser323=)
18g.33743853C>GCA503770325ASXL3c.4008C>G (p.Ser1336=)
c.4005C>G (p.Ser1335=)
c.3885C>G (p.Ser1295=)
c.3981C>G (p.Ser1327=)
c.3927C>G (p.Ser1309=)
c.3888C>G (p.Ser1296=)
c.3837C>G (p.Ser1279=)
c.969C>G (p.Ser323=)
18g.33743853C>TCA8934152ASXL3c.4008C>T (p.Ser1336=)
c.4005C>T (p.Ser1335=)
c.3885C>T (p.Ser1295=)
c.3981C>T (p.Ser1327=)
c.3927C>T (p.Ser1309=)
c.3888C>T (p.Ser1296=)
c.3837C>T (p.Ser1279=)
c.969C>T (p.Ser323=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743854A>CCA402189418ASXL3c.4009A>C (p.Thr1337Pro)
c.4006A>C (p.Thr1336Pro)
c.3886A>C (p.Thr1296Pro)
c.3982A>C (p.Thr1328Pro)
c.3928A>C (p.Thr1310Pro)
c.3889A>C (p.Thr1297Pro)
c.3838A>C (p.Thr1280Pro)
c.970A>C (p.Thr324Pro)
18g.33743854A>GCA402189421ASXL3c.4009A>G (p.Thr1337Ala)
c.4006A>G (p.Thr1336Ala)
c.3886A>G (p.Thr1296Ala)
c.3982A>G (p.Thr1328Ala)
c.3928A>G (p.Thr1310Ala)
c.3889A>G (p.Thr1297Ala)
c.3838A>G (p.Thr1280Ala)
c.970A>G (p.Thr324Ala)
18g.33743854A>TCA402189424ASXL3c.4009A>T (p.Thr1337Ser)
c.4006A>T (p.Thr1336Ser)
c.3886A>T (p.Thr1296Ser)
c.3982A>T (p.Thr1328Ser)
c.3928A>T (p.Thr1310Ser)
c.3889A>T (p.Thr1297Ser)
c.3838A>T (p.Thr1280Ser)
c.970A>T (p.Thr324Ser)
18g.33743855C>ACA8934153ASXL3c.4010C>A (p.Thr1337Asn)
c.4007C>A (p.Thr1336Asn)
c.3887C>A (p.Thr1296Asn)
c.3983C>A (p.Thr1328Asn)
c.3929C>A (p.Thr1310Asn)
c.3890C>A (p.Thr1297Asn)
c.3839C>A (p.Thr1280Asn)
c.971C>A (p.Thr324Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743855C=CA2294857871ASXL3c.4010C= (p.Thr1337=)
c.4007C= (p.Thr1336=)
c.3887C= (p.Thr1296=)
c.3983C= (p.Thr1328=)
c.3929C= (p.Thr1310=)
c.3890C= (p.Thr1297=)
c.3839C= (p.Thr1280=)
c.971C= (p.Thr324=)
18g.33743855C>GCA402189430ASXL3c.4010C>G (p.Thr1337Ser)
c.4007C>G (p.Thr1336Ser)
c.3887C>G (p.Thr1296Ser)
c.3983C>G (p.Thr1328Ser)
c.3929C>G (p.Thr1310Ser)
c.3890C>G (p.Thr1297Ser)
c.3839C>G (p.Thr1280Ser)
c.971C>G (p.Thr324Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.33743855C>TCA402189432ASXL3c.4010C>T (p.Thr1337Ile)
c.4007C>T (p.Thr1336Ile)
c.3887C>T (p.Thr1296Ile)
c.3983C>T (p.Thr1328Ile)
c.3929C>T (p.Thr1310Ile)
c.3890C>T (p.Thr1297Ile)
c.3839C>T (p.Thr1280Ile)
c.971C>T (p.Thr324Ile)
18g.33743856T>ACA503770333ASXL3c.4011T>A (p.Thr1337=)
c.4008T>A (p.Thr1336=)
c.3888T>A (p.Thr1296=)
c.3984T>A (p.Thr1328=)
c.3930T>A (p.Thr1310=)
c.3891T>A (p.Thr1297=)
c.3840T>A (p.Thr1280=)
c.972T>A (p.Thr324=)
18g.33743856T>CCA503770330ASXL3c.4011T>C (p.Thr1337=)
c.4008T>C (p.Thr1336=)
c.3888T>C (p.Thr1296=)
c.3984T>C (p.Thr1328=)
c.3930T>C (p.Thr1310=)
c.3891T>C (p.Thr1297=)
c.3840T>C (p.Thr1280=)
c.972T>C (p.Thr324=)
 gnomAD v3 gnomAD v4
18g.33743856T>GCA503770328ASXL3c.4011T>G (p.Thr1337=)
c.4008T>G (p.Thr1336=)
c.3888T>G (p.Thr1296=)
c.3984T>G (p.Thr1328=)
c.3930T>G (p.Thr1310=)
c.3891T>G (p.Thr1297=)
c.3840T>G (p.Thr1280=)
c.972T>G (p.Thr324=)
18g.33743857C>ACA402189440ASXL3c.4012C>A (p.Gln1338Lys)
c.4009C>A (p.Gln1337Lys)
c.3889C>A (p.Gln1297Lys)
c.3985C>A (p.Gln1329Lys)
c.3931C>A (p.Gln1311Lys)
c.3892C>A (p.Gln1298Lys)
c.3841C>A (p.Gln1281Lys)
c.973C>A (p.Gln325Lys)
18g.33743857C=CA2294857872ASXL3c.4012C= (p.Gln1338=)
c.4009C= (p.Gln1337=)
c.3889C= (p.Gln1297=)
c.3985C= (p.Gln1329=)
c.3931C= (p.Gln1311=)
c.3892C= (p.Gln1298=)
c.3841C= (p.Gln1281=)
c.973C= (p.Gln325=)
18g.33743857C>GCA402189443ASXL3c.4012C>G (p.Gln1338Glu)
c.4009C>G (p.Gln1337Glu)
c.3889C>G (p.Gln1297Glu)
c.3985C>G (p.Gln1329Glu)
c.3931C>G (p.Gln1311Glu)
c.3892C>G (p.Gln1298Glu)
c.3841C>G (p.Gln1281Glu)
c.973C>G (p.Gln325Glu)
 dbSNP gnomAD v4
18g.33743857C>TCA402189436ASXL3c.4012C>T (p.Gln1338Ter)
c.4009C>T (p.Gln1337Ter)
c.3889C>T (p.Gln1297Ter)
c.3985C>T (p.Gln1329Ter)
c.3931C>T (p.Gln1311Ter)
c.3892C>T (p.Gln1298Ter)
c.3841C>T (p.Gln1281Ter)
c.973C>T (p.Gln325Ter)
18g.33743858A>CCA402189446ASXL3c.4013A>C (p.Gln1338Pro)
c.4010A>C (p.Gln1337Pro)
c.3890A>C (p.Gln1297Pro)
c.3986A>C (p.Gln1329Pro)
c.3932A>C (p.Gln1311Pro)
c.3893A>C (p.Gln1298Pro)
c.3842A>C (p.Gln1281Pro)
c.974A>C (p.Gln325Pro)
18g.33743858A>GCA402189449ASXL3c.4013A>G (p.Gln1338Arg)
c.4010A>G (p.Gln1337Arg)
c.3890A>G (p.Gln1297Arg)
c.3986A>G (p.Gln1329Arg)
c.3932A>G (p.Gln1311Arg)
c.3893A>G (p.Gln1298Arg)
c.3842A>G (p.Gln1281Arg)
c.974A>G (p.Gln325Arg)
18g.33743858A>TCA402189452ASXL3c.4013A>T (p.Gln1338Leu)
c.4010A>T (p.Gln1337Leu)
c.3890A>T (p.Gln1297Leu)
c.3986A>T (p.Gln1329Leu)
c.3932A>T (p.Gln1311Leu)
c.3893A>T (p.Gln1298Leu)
c.3842A>T (p.Gln1281Leu)
c.974A>T (p.Gln325Leu)
18g.33743859G>ACA8934155ASXL3c.4014G>A (p.Gln1338=)
c.4011G>A (p.Gln1337=)
c.3891G>A (p.Gln1297=)
c.3987G>A (p.Gln1329=)
c.3933G>A (p.Gln1311=)
c.3894G>A (p.Gln1298=)
c.3843G>A (p.Gln1281=)
c.975G>A (p.Gln325=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743859G>CCA8934156ASXL3c.4014G>C (p.Gln1338His)
c.4011G>C (p.Gln1337His)
c.3891G>C (p.Gln1297His)
c.3987G>C (p.Gln1329His)
c.3933G>C (p.Gln1311His)
c.3894G>C (p.Gln1298His)
c.3843G>C (p.Gln1281His)
c.975G>C (p.Gln325His)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743859G=CA2294857873ASXL3c.4014G= (p.Gln1338=)
c.4011G= (p.Gln1337=)
c.3891G= (p.Gln1297=)
c.3987G= (p.Gln1329=)
c.3933G= (p.Gln1311=)
c.3894G= (p.Gln1298=)
c.3843G= (p.Gln1281=)
c.975G= (p.Gln325=)
18g.33743859G>TCA8934154ASXL3c.4014G>T (p.Gln1338His)
c.4011G>T (p.Gln1337His)
c.3891G>T (p.Gln1297His)
c.3987G>T (p.Gln1329His)
c.3933G>T (p.Gln1311His)
c.3894G>T (p.Gln1298His)
c.3843G>T (p.Gln1281His)
c.975G>T (p.Gln325His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743860T>ACA402189465ASXL3c.4015T>A (p.Tyr1339Asn)
c.4012T>A (p.Tyr1338Asn)
c.3892T>A (p.Tyr1298Asn)
c.3988T>A (p.Tyr1330Asn)
c.3934T>A (p.Tyr1312Asn)
c.3895T>A (p.Tyr1299Asn)
c.3844T>A (p.Tyr1282Asn)
c.976T>A (p.Tyr326Asn)
 dbSNP gnomAD v3 gnomAD v4
18g.33743860T>CCA402189472ASXL3c.4015T>C (p.Tyr1339His)
c.4012T>C (p.Tyr1338His)
c.3892T>C (p.Tyr1298His)
c.3988T>C (p.Tyr1330His)
c.3934T>C (p.Tyr1312His)
c.3895T>C (p.Tyr1299His)
c.3844T>C (p.Tyr1282His)
c.976T>C (p.Tyr326His)
 gnomAD v4
18g.33743860T>GCA402189468ASXL3c.4015T>G (p.Tyr1339Asp)
c.4012T>G (p.Tyr1338Asp)
c.3892T>G (p.Tyr1298Asp)
c.3988T>G (p.Tyr1330Asp)
c.3934T>G (p.Tyr1312Asp)
c.3895T>G (p.Tyr1299Asp)
c.3844T>G (p.Tyr1282Asp)
c.976T>G (p.Tyr326Asp)
18g.33743860T=CA2294857874ASXL3c.4015T= (p.Tyr1339=)
c.4012T= (p.Tyr1338=)
c.3892T= (p.Tyr1298=)
c.3988T= (p.Tyr1330=)
c.3934T= (p.Tyr1312=)
c.3895T= (p.Tyr1299=)
c.3844T= (p.Tyr1282=)
c.976T= (p.Tyr326=)
18g.33743861A>CCA402189477ASXL3c.4016A>C (p.Tyr1339Ser)
c.4013A>C (p.Tyr1338Ser)
c.3893A>C (p.Tyr1298Ser)
c.3989A>C (p.Tyr1330Ser)
c.3935A>C (p.Tyr1312Ser)
c.3896A>C (p.Tyr1299Ser)
c.3845A>C (p.Tyr1282Ser)
c.977A>C (p.Tyr326Ser)
18g.33743861A>GCA402189480ASXL3c.4016A>G (p.Tyr1339Cys)
c.4013A>G (p.Tyr1338Cys)
c.3893A>G (p.Tyr1298Cys)
c.3989A>G (p.Tyr1330Cys)
c.3935A>G (p.Tyr1312Cys)
c.3896A>G (p.Tyr1299Cys)
c.3845A>G (p.Tyr1282Cys)
c.977A>G (p.Tyr326Cys)
18g.33743861A>TCA402189483ASXL3c.4016A>T (p.Tyr1339Phe)
c.4013A>T (p.Tyr1338Phe)
c.3893A>T (p.Tyr1298Phe)
c.3989A>T (p.Tyr1330Phe)
c.3935A>T (p.Tyr1312Phe)
c.3896A>T (p.Tyr1299Phe)
c.3845A>T (p.Tyr1282Phe)
c.977A>T (p.Tyr326Phe)
18g.33743862C>ACA402189486ASXL3c.4017C>A (p.Tyr1339Ter)
c.4014C>A (p.Tyr1338Ter)
c.3894C>A (p.Tyr1298Ter)
c.3990C>A (p.Tyr1330Ter)
c.3936C>A (p.Tyr1312Ter)
c.3897C>A (p.Tyr1299Ter)
c.3846C>A (p.Tyr1282Ter)
c.978C>A (p.Tyr326Ter)
18g.33743862C=CA2294857875ASXL3c.4017C= (p.Tyr1339=)
c.4014C= (p.Tyr1338=)
c.3894C= (p.Tyr1298=)
c.3990C= (p.Tyr1330=)
c.3936C= (p.Tyr1312=)
c.3897C= (p.Tyr1299=)
c.3846C= (p.Tyr1282=)
c.978C= (p.Tyr326=)
18g.33743862C>GCA402189488ASXL3c.4017C>G (p.Tyr1339Ter)
c.4014C>G (p.Tyr1338Ter)
c.3894C>G (p.Tyr1298Ter)
c.3990C>G (p.Tyr1330Ter)
c.3936C>G (p.Tyr1312Ter)
c.3897C>G (p.Tyr1299Ter)
c.3846C>G (p.Tyr1282Ter)
c.978C>G (p.Tyr326Ter)
 ClinVar dbSNP
18g.33743862C>TCA503770351ASXL3c.4017C>T (p.Tyr1339=)
c.4014C>T (p.Tyr1338=)
c.3894C>T (p.Tyr1298=)
c.3990C>T (p.Tyr1330=)
c.3936C>T (p.Tyr1312=)
c.3897C>T (p.Tyr1299=)
c.3846C>T (p.Tyr1282=)
c.978C>T (p.Tyr326=)
 gnomAD v4
18g.33743863A>CCA402189496ASXL3c.4018A>C (p.Thr1340Pro)
c.4015A>C (p.Thr1339Pro)
c.3895A>C (p.Thr1299Pro)
c.3991A>C (p.Thr1331Pro)
c.3937A>C (p.Thr1313Pro)
c.3898A>C (p.Thr1300Pro)
c.3847A>C (p.Thr1283Pro)
c.979A>C (p.Thr327Pro)
18g.33743863A>GCA402189499ASXL3c.4018A>G (p.Thr1340Ala)
c.4015A>G (p.Thr1339Ala)
c.3895A>G (p.Thr1299Ala)
c.3991A>G (p.Thr1331Ala)
c.3937A>G (p.Thr1313Ala)
c.3898A>G (p.Thr1300Ala)
c.3847A>G (p.Thr1283Ala)
c.979A>G (p.Thr327Ala)
18g.33743863A>TCA402189493ASXL3c.4018A>T (p.Thr1340Ser)
c.4015A>T (p.Thr1339Ser)
c.3895A>T (p.Thr1299Ser)
c.3991A>T (p.Thr1331Ser)
c.3937A>T (p.Thr1313Ser)
c.3898A>T (p.Thr1300Ser)
c.3847A>T (p.Thr1283Ser)
c.979A>T (p.Thr327Ser)
18g.33743864C>ACA402189507ASXL3c.4019C>A (p.Thr1340Asn)
c.4016C>A (p.Thr1339Asn)
c.3896C>A (p.Thr1299Asn)
c.3992C>A (p.Thr1331Asn)
c.3938C>A (p.Thr1313Asn)
c.3899C>A (p.Thr1300Asn)
c.3848C>A (p.Thr1283Asn)
c.980C>A (p.Thr327Asn)
18g.33743864C=CA2294857876ASXL3c.4019C= (p.Thr1340=)
c.4016C= (p.Thr1339=)
c.3896C= (p.Thr1299=)
c.3992C= (p.Thr1331=)
c.3938C= (p.Thr1313=)
c.3899C= (p.Thr1300=)
c.3848C= (p.Thr1283=)
c.980C= (p.Thr327=)
18g.33743864C>GCA402189503ASXL3c.4019C>G (p.Thr1340Ser)
c.4016C>G (p.Thr1339Ser)
c.3896C>G (p.Thr1299Ser)
c.3992C>G (p.Thr1331Ser)
c.3938C>G (p.Thr1313Ser)
c.3899C>G (p.Thr1300Ser)
c.3848C>G (p.Thr1283Ser)
c.980C>G (p.Thr327Ser)
18g.33743864C>TCA8934157ASXL3c.4019C>T (p.Thr1340Ile)
c.4016C>T (p.Thr1339Ile)
c.3896C>T (p.Thr1299Ile)
c.3992C>T (p.Thr1331Ile)
c.3938C>T (p.Thr1313Ile)
c.3899C>T (p.Thr1300Ile)
c.3848C>T (p.Thr1283Ile)
c.980C>T (p.Thr327Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743865C>ACA503770360ASXL3c.4020C>A (p.Thr1340=)
c.4017C>A (p.Thr1339=)
c.3897C>A (p.Thr1299=)
c.3993C>A (p.Thr1331=)
c.3939C>A (p.Thr1313=)
c.3900C>A (p.Thr1300=)
c.3849C>A (p.Thr1283=)
c.981C>A (p.Thr327=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743865C=CA2294857877ASXL3c.4020C= (p.Thr1340=)
c.4017C= (p.Thr1339=)
c.3897C= (p.Thr1299=)
c.3993C= (p.Thr1331=)
c.3939C= (p.Thr1313=)
c.3900C= (p.Thr1300=)
c.3849C= (p.Thr1283=)
c.981C= (p.Thr327=)
18g.33743865C>GCA503770362ASXL3c.4020C>G (p.Thr1340=)
c.4017C>G (p.Thr1339=)
c.3897C>G (p.Thr1299=)
c.3993C>G (p.Thr1331=)
c.3939C>G (p.Thr1313=)
c.3900C>G (p.Thr1300=)
c.3849C>G (p.Thr1283=)
c.981C>G (p.Thr327=)
 dbSNP
18g.33743865C>TCA8934158ASXL3c.4020C>T (p.Thr1340=)
c.4017C>T (p.Thr1339=)
c.3897C>T (p.Thr1299=)
c.3993C>T (p.Thr1331=)
c.3939C>T (p.Thr1313=)
c.3900C>T (p.Thr1300=)
c.3849C>T (p.Thr1283=)
c.981C>T (p.Thr327=)
 dbSNP ExAC gnomAD v2 COSMIC
18g.33743866T>ACA402189514ASXL3c.4021T>A (p.Ser1341Thr)
c.4018T>A (p.Ser1340Thr)
c.3898T>A (p.Ser1300Thr)
c.3994T>A (p.Ser1332Thr)
c.3940T>A (p.Ser1314Thr)
c.3901T>A (p.Ser1301Thr)
c.3850T>A (p.Ser1284Thr)
c.982T>A (p.Ser328Thr)
18g.33743866T>CCA402189518ASXL3c.4021T>C (p.Ser1341Pro)
c.4018T>C (p.Ser1340Pro)
c.3898T>C (p.Ser1300Pro)
c.3994T>C (p.Ser1332Pro)
c.3940T>C (p.Ser1314Pro)
c.3901T>C (p.Ser1301Pro)
c.3850T>C (p.Ser1284Pro)
c.982T>C (p.Ser328Pro)
 dbSNP
18g.33743866T>GCA402189520ASXL3c.4021T>G (p.Ser1341Ala)
c.4018T>G (p.Ser1340Ala)
c.3898T>G (p.Ser1300Ala)
c.3994T>G (p.Ser1332Ala)
c.3940T>G (p.Ser1314Ala)
c.3901T>G (p.Ser1301Ala)
c.3850T>G (p.Ser1284Ala)
c.982T>G (p.Ser328Ala)
18g.33743866T=CA2294857878ASXL3c.4021T= (p.Ser1341=)
c.4018T= (p.Ser1340=)
c.3898T= (p.Ser1300=)
c.3994T= (p.Ser1332=)
c.3940T= (p.Ser1314=)
c.3901T= (p.Ser1301=)
c.3850T= (p.Ser1284=)
c.982T= (p.Ser328=)
18g.33743867C>ACA402189525ASXL3c.4022C>A (p.Ser1341Tyr)
c.4019C>A (p.Ser1340Tyr)
c.3899C>A (p.Ser1300Tyr)
c.3995C>A (p.Ser1332Tyr)
c.3941C>A (p.Ser1314Tyr)
c.3902C>A (p.Ser1301Tyr)
c.3851C>A (p.Ser1284Tyr)
c.983C>A (p.Ser328Tyr)
18g.33743867C>GCA402189528ASXL3c.4022C>G (p.Ser1341Cys)
c.4019C>G (p.Ser1340Cys)
c.3899C>G (p.Ser1300Cys)
c.3995C>G (p.Ser1332Cys)
c.3941C>G (p.Ser1314Cys)
c.3902C>G (p.Ser1301Cys)
c.3851C>G (p.Ser1284Cys)
c.983C>G (p.Ser328Cys)
18g.33743867C>TCA402189531ASXL3c.4022C>T (p.Ser1341Phe)
c.4019C>T (p.Ser1340Phe)
c.3899C>T (p.Ser1300Phe)
c.3995C>T (p.Ser1332Phe)
c.3941C>T (p.Ser1314Phe)
c.3902C>T (p.Ser1301Phe)
c.3851C>T (p.Ser1284Phe)
c.983C>T (p.Ser328Phe)
18g.33743867_33743869delinsCTGCA2294857879ASXL3c.4022_4024delinsCTG (p.Ser1341=)
c.4019_4021delinsCTG (p.Ser1340=)
c.3899_3901delinsCTG (p.Ser1300=)
c.3995_3997delinsCTG (p.Ser1332=)
c.3941_3943delinsCTG (p.Ser1314=)
c.3902_3904delinsCTG (p.Ser1301=)
c.3851_3853delinsCTG (p.Ser1284=)
c.983_985delinsCTG (p.Ser328=)
18g.33743868T>ACA503770371ASXL3c.4023T>A (p.Ser1341=)
c.4020T>A (p.Ser1340=)
c.3900T>A (p.Ser1300=)
c.3996T>A (p.Ser1332=)
c.3942T>A (p.Ser1314=)
c.3903T>A (p.Ser1301=)
c.3852T>A (p.Ser1284=)
c.984T>A (p.Ser328=)
18g.33743868T>CCA503770372ASXL3c.4023T>C (p.Ser1341=)
c.4020T>C (p.Ser1340=)
c.3900T>C (p.Ser1300=)
c.3996T>C (p.Ser1332=)
c.3942T>C (p.Ser1314=)
c.3903T>C (p.Ser1301=)
c.3852T>C (p.Ser1284=)
c.984T>C (p.Ser328=)
18g.33743868T>GCA503770373ASXL3c.4023T>G (p.Ser1341=)
c.4020T>G (p.Ser1340=)
c.3900T>G (p.Ser1300=)
c.3996T>G (p.Ser1332=)
c.3942T>G (p.Ser1314=)
c.3903T>G (p.Ser1301=)
c.3852T>G (p.Ser1284=)
c.984T>G (p.Ser328=)
18g.33743870_33743871delCA10603619ASXL3c.4025_4026del (p.Val1342AlafsTer15)
c.4022_4023del (p.Val1341AlafsTer15)
c.3902_3903del (p.Val1301AlafsTer15)
c.3998_3999del (p.Val1333AlafsTer15)
c.3944_3945del (p.Val1315AlafsTer15)
c.3905_3906del (p.Val1302AlafsTer15)
c.3854_3855del (p.Val1285AlafsTer15)
c.986_987del (p.Val329AlafsTer15)
 ClinVar dbSNP
18g.33743869G>ACA402189540ASXL3c.4024G>A (p.Val1342Met)
c.4021G>A (p.Val1341Met)
c.3901G>A (p.Val1301Met)
c.3997G>A (p.Val1333Met)
c.3943G>A (p.Val1315Met)
c.3904G>A (p.Val1302Met)
c.3853G>A (p.Val1285Met)
c.985G>A (p.Val329Met)
 gnomAD v4
18g.33743869G>CCA402189543ASXL3c.4024G>C (p.Val1342Leu)
c.4021G>C (p.Val1341Leu)
c.3901G>C (p.Val1301Leu)
c.3997G>C (p.Val1333Leu)
c.3943G>C (p.Val1315Leu)
c.3904G>C (p.Val1302Leu)
c.3853G>C (p.Val1285Leu)
c.985G>C (p.Val329Leu)
18g.33743869G>TCA402189537ASXL3c.4024G>T (p.Val1342Leu)
c.4021G>T (p.Val1341Leu)
c.3901G>T (p.Val1301Leu)
c.3997G>T (p.Val1333Leu)
c.3943G>T (p.Val1315Leu)
c.3904G>T (p.Val1302Leu)
c.3853G>T (p.Val1285Leu)
c.985G>T (p.Val329Leu)
18g.33743870T>ACA402189545ASXL3c.4025T>A (p.Val1342Glu)
c.4022T>A (p.Val1341Glu)
c.3902T>A (p.Val1301Glu)
c.3998T>A (p.Val1333Glu)
c.3944T>A (p.Val1315Glu)
c.3905T>A (p.Val1302Glu)
c.3854T>A (p.Val1285Glu)
c.986T>A (p.Val329Glu)
18g.33743870T>CCA402189548ASXL3c.4025T>C (p.Val1342Ala)
c.4022T>C (p.Val1341Ala)
c.3902T>C (p.Val1301Ala)
c.3998T>C (p.Val1333Ala)
c.3944T>C (p.Val1315Ala)
c.3905T>C (p.Val1302Ala)
c.3854T>C (p.Val1285Ala)
c.986T>C (p.Val329Ala)
18g.33743870T>GCA402189551ASXL3c.4025T>G (p.Val1342Gly)
c.4022T>G (p.Val1341Gly)
c.3902T>G (p.Val1301Gly)
c.3998T>G (p.Val1333Gly)
c.3944T>G (p.Val1315Gly)
c.3905T>G (p.Val1302Gly)
c.3854T>G (p.Val1285Gly)
c.986T>G (p.Val329Gly)
18g.33743871G>ACA503770385ASXL3c.4026G>A (p.Val1342=)
c.4023G>A (p.Val1341=)
c.3903G>A (p.Val1301=)
c.3999G>A (p.Val1333=)
c.3945G>A (p.Val1315=)
c.3906G>A (p.Val1302=)
c.3855G>A (p.Val1285=)
c.987G>A (p.Val329=)
18g.33743871G>CCA503770387ASXL3c.4026G>C (p.Val1342=)
c.4023G>C (p.Val1341=)
c.3903G>C (p.Val1301=)
c.3999G>C (p.Val1333=)
c.3945G>C (p.Val1315=)
c.3906G>C (p.Val1302=)
c.3855G>C (p.Val1285=)
c.987G>C (p.Val329=)
18g.33743871G>TCA503770388ASXL3c.4026G>T (p.Val1342=)
c.4023G>T (p.Val1341=)
c.3903G>T (p.Val1301=)
c.3999G>T (p.Val1333=)
c.3945G>T (p.Val1315=)
c.3906G>T (p.Val1302=)
c.3855G>T (p.Val1285=)
c.987G>T (p.Val329=)
18g.33743872C>ACA402189554ASXL3c.4027C>A (p.Pro1343Thr)
c.4024C>A (p.Pro1342Thr)
c.3904C>A (p.Pro1302Thr)
c.4000C>A (p.Pro1334Thr)
c.3946C>A (p.Pro1316Thr)
c.3907C>A (p.Pro1303Thr)
c.3856C>A (p.Pro1286Thr)
c.988C>A (p.Pro330Thr)
18g.33743872C=CA2294857880ASXL3c.4027C= (p.Pro1343=)
c.4024C= (p.Pro1342=)
c.3904C= (p.Pro1302=)
c.4000C= (p.Pro1334=)
c.3946C= (p.Pro1316=)
c.3907C= (p.Pro1303=)
c.3856C= (p.Pro1286=)
c.988C= (p.Pro330=)
18g.33743872C>GCA402189557ASXL3c.4027C>G (p.Pro1343Ala)
c.4024C>G (p.Pro1342Ala)
c.3904C>G (p.Pro1302Ala)
c.4000C>G (p.Pro1334Ala)
c.3946C>G (p.Pro1316Ala)
c.3907C>G (p.Pro1303Ala)
c.3856C>G (p.Pro1286Ala)
c.988C>G (p.Pro330Ala)
18g.33743872C>TCA8934159ASXL3c.4027C>T (p.Pro1343Ser)
c.4024C>T (p.Pro1342Ser)
c.3904C>T (p.Pro1302Ser)
c.4000C>T (p.Pro1334Ser)
c.3946C>T (p.Pro1316Ser)
c.3907C>T (p.Pro1303Ser)
c.3856C>T (p.Pro1286Ser)
c.988C>T (p.Pro330Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743873C>ACA402189564ASXL3c.4028C>A (p.Pro1343Gln)
c.4025C>A (p.Pro1342Gln)
c.3905C>A (p.Pro1302Gln)
c.4001C>A (p.Pro1334Gln)
c.3947C>A (p.Pro1316Gln)
c.3908C>A (p.Pro1303Gln)
c.3857C>A (p.Pro1286Gln)
c.989C>A (p.Pro330Gln)
18g.33743873C=CA2294857881ASXL3c.4028C= (p.Pro1343=)
c.4025C= (p.Pro1342=)
c.3905C= (p.Pro1302=)
c.4001C= (p.Pro1334=)
c.3947C= (p.Pro1316=)
c.3908C= (p.Pro1303=)
c.3857C= (p.Pro1286=)
c.989C= (p.Pro330=)
18g.33743873C>GCA402189568ASXL3c.4028C>G (p.Pro1343Arg)
c.4025C>G (p.Pro1342Arg)
c.3905C>G (p.Pro1302Arg)
c.4001C>G (p.Pro1334Arg)
c.3947C>G (p.Pro1316Arg)
c.3908C>G (p.Pro1303Arg)
c.3857C>G (p.Pro1286Arg)
c.989C>G (p.Pro330Arg)
18g.33743873C>TCA402189565ASXL3c.4028C>T (p.Pro1343Leu)
c.4025C>T (p.Pro1342Leu)
c.3905C>T (p.Pro1302Leu)
c.4001C>T (p.Pro1334Leu)
c.3947C>T (p.Pro1316Leu)
c.3908C>T (p.Pro1303Leu)
c.3857C>T (p.Pro1286Leu)
c.989C>T (p.Pro330Leu)
 dbSNP
18g.33743874A>CCA503770395ASXL3c.4029A>C (p.Pro1343=)
c.4026A>C (p.Pro1342=)
c.3906A>C (p.Pro1302=)
c.4002A>C (p.Pro1334=)
c.3948A>C (p.Pro1316=)
c.3909A>C (p.Pro1303=)
c.3858A>C (p.Pro1286=)
c.990A>C (p.Pro330=)
18g.33743874A>GCA503770397ASXL3c.4029A>G (p.Pro1343=)
c.4026A>G (p.Pro1342=)
c.3906A>G (p.Pro1302=)
c.4002A>G (p.Pro1334=)
c.3948A>G (p.Pro1316=)
c.3909A>G (p.Pro1303=)
c.3858A>G (p.Pro1286=)
c.990A>G (p.Pro330=)
18g.33743874A>TCA503770399ASXL3c.4029A>T (p.Pro1343=)
c.4026A>T (p.Pro1342=)
c.3906A>T (p.Pro1302=)
c.4002A>T (p.Pro1334=)
c.3948A>T (p.Pro1316=)
c.3909A>T (p.Pro1303=)
c.3858A>T (p.Pro1286=)
c.990A>T (p.Pro330=)
18g.33743875A=CA2294857882ASXL3c.4030A= (p.Thr1344=)
c.4027A= (p.Thr1343=)
c.3907A= (p.Thr1303=)
c.4003A= (p.Thr1335=)
c.3949A= (p.Thr1317=)
c.3910A= (p.Thr1304=)
c.3859A= (p.Thr1287=)
c.991A= (p.Thr331=)
18g.33743875A>CCA402189576ASXL3c.4030A>C (p.Thr1344Pro)
c.4027A>C (p.Thr1343Pro)
c.3907A>C (p.Thr1303Pro)
c.4003A>C (p.Thr1335Pro)
c.3949A>C (p.Thr1317Pro)
c.3910A>C (p.Thr1304Pro)
c.3859A>C (p.Thr1287Pro)
c.991A>C (p.Thr331Pro)
18g.33743875A>GCA8934160ASXL3c.4030A>G (p.Thr1344Ala)
c.4027A>G (p.Thr1343Ala)
c.3907A>G (p.Thr1303Ala)
c.4003A>G (p.Thr1335Ala)
c.3949A>G (p.Thr1317Ala)
c.3910A>G (p.Thr1304Ala)
c.3859A>G (p.Thr1287Ala)
c.991A>G (p.Thr331Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743875A>TCA402189581ASXL3c.4030A>T (p.Thr1344Ser)
c.4027A>T (p.Thr1343Ser)
c.3907A>T (p.Thr1303Ser)
c.4003A>T (p.Thr1335Ser)
c.3949A>T (p.Thr1317Ser)
c.3910A>T (p.Thr1304Ser)
c.3859A>T (p.Thr1287Ser)
c.991A>T (p.Thr331Ser)
18g.33743876C>ACA402189586ASXL3c.4031C>A (p.Thr1344Asn)
c.4028C>A (p.Thr1343Asn)
c.3908C>A (p.Thr1303Asn)
c.4004C>A (p.Thr1335Asn)
c.3950C>A (p.Thr1317Asn)
c.3911C>A (p.Thr1304Asn)
c.3860C>A (p.Thr1287Asn)
c.992C>A (p.Thr331Asn)
18g.33743876C=CA2294857883ASXL3c.4031C= (p.Thr1344=)
c.4028C= (p.Thr1343=)
c.3908C= (p.Thr1303=)
c.4004C= (p.Thr1335=)
c.3950C= (p.Thr1317=)
c.3911C= (p.Thr1304=)
c.3860C= (p.Thr1287=)
c.992C= (p.Thr331=)
18g.33743876C>GCA402189588ASXL3c.4031C>G (p.Thr1344Ser)
c.4028C>G (p.Thr1343Ser)
c.3908C>G (p.Thr1303Ser)
c.4004C>G (p.Thr1335Ser)
c.3950C>G (p.Thr1317Ser)
c.3911C>G (p.Thr1304Ser)
c.3860C>G (p.Thr1287Ser)
c.992C>G (p.Thr331Ser)
 dbSNP
18g.33743876C>TCA402189590ASXL3c.4031C>T (p.Thr1344Ile)
c.4028C>T (p.Thr1343Ile)
c.3908C>T (p.Thr1303Ile)
c.4004C>T (p.Thr1335Ile)
c.3950C>T (p.Thr1317Ile)
c.3911C>T (p.Thr1304Ile)
c.3860C>T (p.Thr1287Ile)
c.992C>T (p.Thr331Ile)
 dbSNP gnomAD v4
18g.33743877T>ACA503770408ASXL3c.4032T>A (p.Thr1344=)
c.4029T>A (p.Thr1343=)
c.3909T>A (p.Thr1303=)
c.4005T>A (p.Thr1335=)
c.3951T>A (p.Thr1317=)
c.3912T>A (p.Thr1304=)
c.3861T>A (p.Thr1287=)
c.993T>A (p.Thr331=)
18g.33743877T>CCA503770410ASXL3c.4032T>C (p.Thr1344=)
c.4029T>C (p.Thr1343=)
c.3909T>C (p.Thr1303=)
c.4005T>C (p.Thr1335=)
c.3951T>C (p.Thr1317=)
c.3912T>C (p.Thr1304=)
c.3861T>C (p.Thr1287=)
c.993T>C (p.Thr331=)
18g.33743877T>GCA503770409ASXL3c.4032T>G (p.Thr1344=)
c.4029T>G (p.Thr1343=)
c.3909T>G (p.Thr1303=)
c.4005T>G (p.Thr1335=)
c.3951T>G (p.Thr1317=)
c.3912T>G (p.Thr1304=)
c.3861T>G (p.Thr1287=)
c.993T>G (p.Thr331=)
18g.33743878C>ACA402189600ASXL3c.4033C>A (p.Pro1345Thr)
c.4030C>A (p.Pro1344Thr)
c.3910C>A (p.Pro1304Thr)
c.4006C>A (p.Pro1336Thr)
c.3952C>A (p.Pro1318Thr)
c.3913C>A (p.Pro1305Thr)
c.3862C>A (p.Pro1288Thr)
c.994C>A (p.Pro332Thr)
 gnomAD v4
18g.33743878C>GCA402189607ASXL3c.4033C>G (p.Pro1345Ala)
c.4030C>G (p.Pro1344Ala)
c.3910C>G (p.Pro1304Ala)
c.4006C>G (p.Pro1336Ala)
c.3952C>G (p.Pro1318Ala)
c.3913C>G (p.Pro1305Ala)
c.3862C>G (p.Pro1288Ala)
c.994C>G (p.Pro332Ala)
18g.33743878C>TCA402189597ASXL3c.4033C>T (p.Pro1345Ser)
c.4030C>T (p.Pro1344Ser)
c.3910C>T (p.Pro1304Ser)
c.4006C>T (p.Pro1336Ser)
c.3952C>T (p.Pro1318Ser)
c.3913C>T (p.Pro1305Ser)
c.3862C>T (p.Pro1288Ser)
c.994C>T (p.Pro332Ser)
18g.33743879C>ACA402189610ASXL3c.4034C>A (p.Pro1345His)
c.4031C>A (p.Pro1344His)
c.3911C>A (p.Pro1304His)
c.4007C>A (p.Pro1336His)
c.3953C>A (p.Pro1318His)
c.3914C>A (p.Pro1305His)
c.3863C>A (p.Pro1288His)
c.995C>A (p.Pro332His)
18g.33743879C>GCA402189612ASXL3c.4034C>G (p.Pro1345Arg)
c.4031C>G (p.Pro1344Arg)
c.3911C>G (p.Pro1304Arg)
c.4007C>G (p.Pro1336Arg)
c.3953C>G (p.Pro1318Arg)
c.3914C>G (p.Pro1305Arg)
c.3863C>G (p.Pro1288Arg)
c.995C>G (p.Pro332Arg)
18g.33743879C>TCA402189615ASXL3c.4034C>T (p.Pro1345Leu)
c.4031C>T (p.Pro1344Leu)
c.3911C>T (p.Pro1304Leu)
c.4007C>T (p.Pro1336Leu)
c.3953C>T (p.Pro1318Leu)
c.3914C>T (p.Pro1305Leu)
c.3863C>T (p.Pro1288Leu)
c.995C>T (p.Pro332Leu)
 gnomAD v4
18g.33743880C>ACA503770415ASXL3c.4035C>A (p.Pro1345=)
c.4032C>A (p.Pro1344=)
c.3912C>A (p.Pro1304=)
c.4008C>A (p.Pro1336=)
c.3954C>A (p.Pro1318=)
c.3915C>A (p.Pro1305=)
c.3864C>A (p.Pro1288=)
c.996C>A (p.Pro332=)
18g.33743880C=CA2294857884ASXL3c.4035C= (p.Pro1345=)
c.4032C= (p.Pro1344=)
c.3912C= (p.Pro1304=)
c.4008C= (p.Pro1336=)
c.3954C= (p.Pro1318=)
c.3915C= (p.Pro1305=)
c.3864C= (p.Pro1288=)
c.996C= (p.Pro332=)
18g.33743880C>GCA503770416ASXL3c.4035C>G (p.Pro1345=)
c.4032C>G (p.Pro1344=)
c.3912C>G (p.Pro1304=)
c.4008C>G (p.Pro1336=)
c.3954C>G (p.Pro1318=)
c.3915C>G (p.Pro1305=)
c.3864C>G (p.Pro1288=)
c.996C>G (p.Pro332=)
 dbSNP gnomAD v2 gnomAD v4
18g.33743880C>TCA503770417ASXL3c.4035C>T (p.Pro1345=)
c.4032C>T (p.Pro1344=)
c.3912C>T (p.Pro1304=)
c.4008C>T (p.Pro1336=)
c.3954C>T (p.Pro1318=)
c.3915C>T (p.Pro1305=)
c.3864C>T (p.Pro1288=)
c.996C>T (p.Pro332=)
18g.33743881T>ACA402189620ASXL3c.4036T>A (p.Ser1346Thr)
c.4033T>A (p.Ser1345Thr)
c.3913T>A (p.Ser1305Thr)
c.4009T>A (p.Ser1337Thr)
c.3955T>A (p.Ser1319Thr)
c.3916T>A (p.Ser1306Thr)
c.3865T>A (p.Ser1289Thr)
c.997T>A (p.Ser333Thr)
18g.33743881T>CCA402189623ASXL3c.4036T>C (p.Ser1346Pro)
c.4033T>C (p.Ser1345Pro)
c.3913T>C (p.Ser1305Pro)
c.4009T>C (p.Ser1337Pro)
c.3955T>C (p.Ser1319Pro)
c.3916T>C (p.Ser1306Pro)
c.3865T>C (p.Ser1289Pro)
c.997T>C (p.Ser333Pro)
18g.33743881T>GCA402189626ASXL3c.4036T>G (p.Ser1346Ala)
c.4033T>G (p.Ser1345Ala)
c.3913T>G (p.Ser1305Ala)
c.4009T>G (p.Ser1337Ala)
c.3955T>G (p.Ser1319Ala)
c.3916T>G (p.Ser1306Ala)
c.3865T>G (p.Ser1289Ala)
c.997T>G (p.Ser333Ala)
18g.33743882C>ACA402189630ASXL3c.4037C>A (p.Ser1346Tyr)
c.4034C>A (p.Ser1345Tyr)
c.3914C>A (p.Ser1305Tyr)
c.4010C>A (p.Ser1337Tyr)
c.3956C>A (p.Ser1319Tyr)
c.3917C>A (p.Ser1306Tyr)
c.3866C>A (p.Ser1289Tyr)
c.998C>A (p.Ser333Tyr)
18g.33743882C=CA2294857885ASXL3c.4037C= (p.Ser1346=)
c.4034C= (p.Ser1345=)
c.3914C= (p.Ser1305=)
c.4010C= (p.Ser1337=)
c.3956C= (p.Ser1319=)
c.3917C= (p.Ser1306=)
c.3866C= (p.Ser1289=)
c.998C= (p.Ser333=)
18g.33743882C>GCA402189633ASXL3c.4037C>G (p.Ser1346Cys)
c.4034C>G (p.Ser1345Cys)
c.3914C>G (p.Ser1305Cys)
c.4010C>G (p.Ser1337Cys)
c.3956C>G (p.Ser1319Cys)
c.3917C>G (p.Ser1306Cys)
c.3866C>G (p.Ser1289Cys)
c.998C>G (p.Ser333Cys)
 gnomAD v4
18g.33743882C>TCA402189637ASXL3c.4037C>T (p.Ser1346Phe)
c.4034C>T (p.Ser1345Phe)
c.3914C>T (p.Ser1305Phe)
c.4010C>T (p.Ser1337Phe)
c.3956C>T (p.Ser1319Phe)
c.3917C>T (p.Ser1306Phe)
c.3866C>T (p.Ser1289Phe)
c.998C>T (p.Ser333Phe)
 dbSNP gnomAD v2 gnomAD v4
18g.33743883C>ACA503770427ASXL3c.4038C>A (p.Ser1346=)
c.4035C>A (p.Ser1345=)
c.3915C>A (p.Ser1305=)
c.4011C>A (p.Ser1337=)
c.3957C>A (p.Ser1319=)
c.3918C>A (p.Ser1306=)
c.3867C>A (p.Ser1289=)
c.999C>A (p.Ser333=)
18g.33743883C=CA2294857886ASXL3c.4038C= (p.Ser1346=)
c.4035C= (p.Ser1345=)
c.3915C= (p.Ser1305=)
c.4011C= (p.Ser1337=)
c.3957C= (p.Ser1319=)
c.3918C= (p.Ser1306=)
c.3867C= (p.Ser1289=)
c.999C= (p.Ser333=)
18g.33743883C>GCA503770428ASXL3c.4038C>G (p.Ser1346=)
c.4035C>G (p.Ser1345=)
c.3915C>G (p.Ser1305=)
c.4011C>G (p.Ser1337=)
c.3957C>G (p.Ser1319=)
c.3918C>G (p.Ser1306=)
c.3867C>G (p.Ser1289=)
c.999C>G (p.Ser333=)
 dbSNP gnomAD v2 gnomAD v4
18g.33743883C>TCA503770429ASXL3c.4038C>T (p.Ser1346=)
c.4035C>T (p.Ser1345=)
c.3915C>T (p.Ser1305=)
c.4011C>T (p.Ser1337=)
c.3957C>T (p.Ser1319=)
c.3918C>T (p.Ser1306=)
c.3867C>T (p.Ser1289=)
c.999C>T (p.Ser333=)
 gnomAD v4
18g.33743884A=CA2294857887ASXL3c.4039A= (p.Ile1347=)
c.4036A= (p.Ile1346=)
c.3916A= (p.Ile1306=)
c.4012A= (p.Ile1338=)
c.3958A= (p.Ile1320=)
c.3919A= (p.Ile1307=)
c.3868A= (p.Ile1290=)
c.1000A= (p.Ile334=)
18g.33743884A>CCA8934162ASXL3c.4039A>C (p.Ile1347Leu)
c.4036A>C (p.Ile1346Leu)
c.3916A>C (p.Ile1306Leu)
c.4012A>C (p.Ile1338Leu)
c.3958A>C (p.Ile1320Leu)
c.3919A>C (p.Ile1307Leu)
c.3868A>C (p.Ile1290Leu)
c.1000A>C (p.Ile334Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743884A>GCA8934161ASXL3c.4039A>G (p.Ile1347Val)
c.4036A>G (p.Ile1346Val)
c.3916A>G (p.Ile1306Val)
c.4012A>G (p.Ile1338Val)
c.3958A>G (p.Ile1320Val)
c.3919A>G (p.Ile1307Val)
c.3868A>G (p.Ile1290Val)
c.1000A>G (p.Ile334Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743884A>TCA402189642ASXL3c.4039A>T (p.Ile1347Phe)
c.4036A>T (p.Ile1346Phe)
c.3916A>T (p.Ile1306Phe)
c.4012A>T (p.Ile1338Phe)
c.3958A>T (p.Ile1320Phe)
c.3919A>T (p.Ile1307Phe)
c.3868A>T (p.Ile1290Phe)
c.1000A>T (p.Ile334Phe)
18g.33743885T>ACA402189649ASXL3c.4040T>A (p.Ile1347Asn)
c.4037T>A (p.Ile1346Asn)
c.3917T>A (p.Ile1306Asn)
c.4013T>A (p.Ile1338Asn)
c.3959T>A (p.Ile1320Asn)
c.3920T>A (p.Ile1307Asn)
c.3869T>A (p.Ile1290Asn)
c.1001T>A (p.Ile334Asn)
18g.33743885T>CCA402189651ASXL3c.4040T>C (p.Ile1347Thr)
c.4037T>C (p.Ile1346Thr)
c.3917T>C (p.Ile1306Thr)
c.4013T>C (p.Ile1338Thr)
c.3959T>C (p.Ile1320Thr)
c.3920T>C (p.Ile1307Thr)
c.3869T>C (p.Ile1290Thr)
c.1001T>C (p.Ile334Thr)
18g.33743885T>GCA402189645ASXL3c.4040T>G (p.Ile1347Ser)
c.4037T>G (p.Ile1346Ser)
c.3917T>G (p.Ile1306Ser)
c.4013T>G (p.Ile1338Ser)
c.3959T>G (p.Ile1320Ser)
c.3920T>G (p.Ile1307Ser)
c.3869T>G (p.Ile1290Ser)
c.1001T>G (p.Ile334Ser)
18g.33743886C>ACA503770435ASXL3c.4041C>A (p.Ile1347=)
c.4038C>A (p.Ile1346=)
c.3918C>A (p.Ile1306=)
c.4014C>A (p.Ile1338=)
c.3960C>A (p.Ile1320=)
c.3921C>A (p.Ile1307=)
c.3870C>A (p.Ile1290=)
c.1002C>A (p.Ile334=)
 gnomAD v4
18g.33743886C=CA2294857888ASXL3c.4041C= (p.Ile1347=)
c.4038C= (p.Ile1346=)
c.3918C= (p.Ile1306=)
c.4014C= (p.Ile1338=)
c.3960C= (p.Ile1320=)
c.3921C= (p.Ile1307=)
c.3870C= (p.Ile1290=)
c.1002C= (p.Ile334=)
18g.33743886C>GCA402189654ASXL3c.4041C>G (p.Ile1347Met)
c.4038C>G (p.Ile1346Met)
c.3918C>G (p.Ile1306Met)
c.4014C>G (p.Ile1338Met)
c.3960C>G (p.Ile1320Met)
c.3921C>G (p.Ile1307Met)
c.3870C>G (p.Ile1290Met)
c.1002C>G (p.Ile334Met)
18g.33743886C>TCA8934163ASXL3c.4041C>T (p.Ile1347=)
c.4038C>T (p.Ile1346=)
c.3918C>T (p.Ile1306=)
c.4014C>T (p.Ile1338=)
c.3960C>T (p.Ile1320=)
c.3921C>T (p.Ile1307=)
c.3870C>T (p.Ile1290=)
c.1002C>T (p.Ile334=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743887G>ACA297793313ASXL3c.4042G>A (p.Gly1348Arg)
c.4039G>A (p.Gly1347Arg)
c.3919G>A (p.Gly1307Arg)
c.4015G>A (p.Gly1339Arg)
c.3961G>A (p.Gly1321Arg)
c.3922G>A (p.Gly1308Arg)
c.3871G>A (p.Gly1291Arg)
c.1003G>A (p.Gly335Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743887G>CCA402189664ASXL3c.4042G>C (p.Gly1348Arg)
c.4039G>C (p.Gly1347Arg)
c.3919G>C (p.Gly1307Arg)
c.4015G>C (p.Gly1339Arg)
c.3961G>C (p.Gly1321Arg)
c.3922G>C (p.Gly1308Arg)
c.3871G>C (p.Gly1291Arg)
c.1003G>C (p.Gly335Arg)
18g.33743887G=CA2294857889ASXL3c.4042G= (p.Gly1348=)
c.4039G= (p.Gly1347=)
c.3919G= (p.Gly1307=)
c.4015G= (p.Gly1339=)
c.3961G= (p.Gly1321=)
c.3922G= (p.Gly1308=)
c.3871G= (p.Gly1291=)
c.1003G= (p.Gly335=)
18g.33743887G>TCA402189668ASXL3c.4042G>T (p.Gly1348Ter)
c.4039G>T (p.Gly1347Ter)
c.3919G>T (p.Gly1307Ter)
c.4015G>T (p.Gly1339Ter)
c.3961G>T (p.Gly1321Ter)
c.3922G>T (p.Gly1308Ter)
c.3871G>T (p.Gly1291Ter)
c.1003G>T (p.Gly335Ter)
18g.33743888G>ACA402189677ASXL3c.4043G>A (p.Gly1348Glu)
c.4040G>A (p.Gly1347Glu)
c.3920G>A (p.Gly1307Glu)
c.4016G>A (p.Gly1339Glu)
c.3962G>A (p.Gly1321Glu)
c.3923G>A (p.Gly1308Glu)
c.3872G>A (p.Gly1291Glu)
c.1004G>A (p.Gly335Glu)
 dbSNP
18g.33743888G>CCA402189673ASXL3c.4043G>C (p.Gly1348Ala)
c.4040G>C (p.Gly1347Ala)
c.3920G>C (p.Gly1307Ala)
c.4016G>C (p.Gly1339Ala)
c.3962G>C (p.Gly1321Ala)
c.3923G>C (p.Gly1308Ala)
c.3872G>C (p.Gly1291Ala)
c.1004G>C (p.Gly335Ala)
18g.33743888G>TCA402189675ASXL3c.4043G>T (p.Gly1348Val)
c.4040G>T (p.Gly1347Val)
c.3920G>T (p.Gly1307Val)
c.4016G>T (p.Gly1339Val)
c.3962G>T (p.Gly1321Val)
c.3923G>T (p.Gly1308Val)
c.3872G>T (p.Gly1291Val)
c.1004G>T (p.Gly335Val)
18g.33743889A=CA2294857890ASXL3c.4044A= (p.Gly1348=)
c.4041A= (p.Gly1347=)
c.3921A= (p.Gly1307=)
c.4017A= (p.Gly1339=)
c.3963A= (p.Gly1321=)
c.3924A= (p.Gly1308=)
c.3873A= (p.Gly1291=)
c.1005A= (p.Gly335=)
18g.33743889A>CCA503770451ASXL3c.4044A>C (p.Gly1348=)
c.4041A>C (p.Gly1347=)
c.3921A>C (p.Gly1307=)
c.4017A>C (p.Gly1339=)
c.3963A>C (p.Gly1321=)
c.3924A>C (p.Gly1308=)
c.3873A>C (p.Gly1291=)
c.1005A>C (p.Gly335=)
18g.33743889A>GCA503770453ASXL3c.4044A>G (p.Gly1348=)
c.4041A>G (p.Gly1347=)
c.3921A>G (p.Gly1307=)
c.4017A>G (p.Gly1339=)
c.3963A>G (p.Gly1321=)
c.3924A>G (p.Gly1308=)
c.3873A>G (p.Gly1291=)
c.1005A>G (p.Gly335=)
18g.33743889A>TCA503770454ASXL3c.4044A>T (p.Gly1348=)
c.4041A>T (p.Gly1347=)
c.3921A>T (p.Gly1307=)
c.4017A>T (p.Gly1339=)
c.3963A>T (p.Gly1321=)
c.3924A>T (p.Gly1308=)
c.3873A>T (p.Gly1291=)
c.1005A>T (p.Gly335=)
 dbSNP
18g.33743890A>CCA402189681ASXL3c.4045A>C (p.Asn1349His)
c.4042A>C (p.Asn1348His)
c.3922A>C (p.Asn1308His)
c.4018A>C (p.Asn1340His)
c.3964A>C (p.Asn1322His)
c.3925A>C (p.Asn1309His)
c.3874A>C (p.Asn1292His)
c.1006A>C (p.Asn336His)
18g.33743890A>GCA402189693ASXL3c.4045A>G (p.Asn1349Asp)
c.4042A>G (p.Asn1348Asp)
c.3922A>G (p.Asn1308Asp)
c.4018A>G (p.Asn1340Asp)
c.3964A>G (p.Asn1322Asp)
c.3925A>G (p.Asn1309Asp)
c.3874A>G (p.Asn1292Asp)
c.1006A>G (p.Asn336Asp)
18g.33743890A>TCA402189697ASXL3c.4045A>T (p.Asn1349Tyr)
c.4042A>T (p.Asn1348Tyr)
c.3922A>T (p.Asn1308Tyr)
c.4018A>T (p.Asn1340Tyr)
c.3964A>T (p.Asn1322Tyr)
c.3925A>T (p.Asn1309Tyr)
c.3874A>T (p.Asn1292Tyr)
c.1006A>T (p.Asn336Tyr)
18g.33743891A>CCA402189702ASXL3c.4046A>C (p.Asn1349Thr)
c.4043A>C (p.Asn1348Thr)
c.3923A>C (p.Asn1308Thr)
c.4019A>C (p.Asn1340Thr)
c.3965A>C (p.Asn1322Thr)
c.3926A>C (p.Asn1309Thr)
c.3875A>C (p.Asn1292Thr)
c.1007A>C (p.Asn336Thr)
18g.33743891A>GCA402189705ASXL3c.4046A>G (p.Asn1349Ser)
c.4043A>G (p.Asn1348Ser)
c.3923A>G (p.Asn1308Ser)
c.4019A>G (p.Asn1340Ser)
c.3965A>G (p.Asn1322Ser)
c.3926A>G (p.Asn1309Ser)
c.3875A>G (p.Asn1292Ser)
c.1007A>G (p.Asn336Ser)
 gnomAD v4
18g.33743891A>TCA402189708ASXL3c.4046A>T (p.Asn1349Ile)
c.4043A>T (p.Asn1348Ile)
c.3923A>T (p.Asn1308Ile)
c.4019A>T (p.Asn1340Ile)
c.3965A>T (p.Asn1322Ile)
c.3926A>T (p.Asn1309Ile)
c.3875A>T (p.Asn1292Ile)
c.1007A>T (p.Asn336Ile)
18g.33743892_33743893delCA913015111ASXL3c.4047_4048del (p.Asn1349LysfsTer8)
c.4044_4045del (p.Asn1348LysfsTer8)
c.3924_3925del (p.Asn1308LysfsTer8)
c.4020_4021del (p.Asn1340LysfsTer8)
c.3966_3967del (p.Asn1322LysfsTer8)
c.3927_3928del (p.Asn1309LysfsTer8)
c.3876_3877del (p.Asn1292LysfsTer8)
c.1008_1009del (p.Asn336LysfsTer8)
18g.33743892C>ACA402189714ASXL3c.4047C>A (p.Asn1349Lys)
c.4044C>A (p.Asn1348Lys)
c.3924C>A (p.Asn1308Lys)
c.4020C>A (p.Asn1340Lys)
c.3966C>A (p.Asn1322Lys)
c.3927C>A (p.Asn1309Lys)
c.3876C>A (p.Asn1292Lys)
c.1008C>A (p.Asn336Lys)
18g.33743892C>GCA402189711ASXL3c.4047C>G (p.Asn1349Lys)
c.4044C>G (p.Asn1348Lys)
c.3924C>G (p.Asn1308Lys)
c.4020C>G (p.Asn1340Lys)
c.3966C>G (p.Asn1322Lys)
c.3927C>G (p.Asn1309Lys)
c.3876C>G (p.Asn1292Lys)
c.1008C>G (p.Asn336Lys)
18g.33743892C>TCA503770465ASXL3c.4047C>T (p.Asn1349=)
c.4044C>T (p.Asn1348=)
c.3924C>T (p.Asn1308=)
c.4020C>T (p.Asn1340=)
c.3966C>T (p.Asn1322=)
c.3927C>T (p.Asn1309=)
c.3876C>T (p.Asn1292=)
c.1008C>T (p.Asn336=)
18g.33743893A>CCA402189719ASXL3c.4048A>C (p.Asn1350His)
c.4045A>C (p.Asn1349His)
c.3925A>C (p.Asn1309His)
c.4021A>C (p.Asn1341His)
c.3967A>C (p.Asn1323His)
c.3928A>C (p.Asn1310His)
c.3877A>C (p.Asn1293His)
c.1009A>C (p.Asn337His)
18g.33743893A>GCA402189724ASXL3c.4048A>G (p.Asn1350Asp)
c.4045A>G (p.Asn1349Asp)
c.3925A>G (p.Asn1309Asp)
c.4021A>G (p.Asn1341Asp)
c.3967A>G (p.Asn1323Asp)
c.3928A>G (p.Asn1310Asp)
c.3877A>G (p.Asn1293Asp)
c.1009A>G (p.Asn337Asp)
18g.33743893A>TCA402189722ASXL3c.4048A>T (p.Asn1350Tyr)
c.4045A>T (p.Asn1349Tyr)
c.3925A>T (p.Asn1309Tyr)
c.4021A>T (p.Asn1341Tyr)
c.3967A>T (p.Asn1323Tyr)
c.3928A>T (p.Asn1310Tyr)
c.3877A>T (p.Asn1293Tyr)
c.1009A>T (p.Asn337Tyr)
18g.33743894A>CCA402189728ASXL3c.4049A>C (p.Asn1350Thr)
c.4046A>C (p.Asn1349Thr)
c.3926A>C (p.Asn1309Thr)
c.4022A>C (p.Asn1341Thr)
c.3968A>C (p.Asn1323Thr)
c.3929A>C (p.Asn1310Thr)
c.3878A>C (p.Asn1293Thr)
c.1010A>C (p.Asn337Thr)
 gnomAD v4
18g.33743894A>GCA402189730ASXL3c.4049A>G (p.Asn1350Ser)
c.4046A>G (p.Asn1349Ser)
c.3926A>G (p.Asn1309Ser)
c.4022A>G (p.Asn1341Ser)
c.3968A>G (p.Asn1323Ser)
c.3929A>G (p.Asn1310Ser)
c.3878A>G (p.Asn1293Ser)
c.1010A>G (p.Asn337Ser)
 gnomAD v4
18g.33743894A>TCA402189731ASXL3c.4049A>T (p.Asn1350Ile)
c.4046A>T (p.Asn1349Ile)
c.3926A>T (p.Asn1309Ile)
c.4022A>T (p.Asn1341Ile)
c.3968A>T (p.Asn1323Ile)
c.3929A>T (p.Asn1310Ile)
c.3878A>T (p.Asn1293Ile)
c.1010A>T (p.Asn337Ile)
18g.33743895T>ACA402189735ASXL3c.4050T>A (p.Asn1350Lys)
c.4047T>A (p.Asn1349Lys)
c.3927T>A (p.Asn1309Lys)
c.4023T>A (p.Asn1341Lys)
c.3969T>A (p.Asn1323Lys)
c.3930T>A (p.Asn1310Lys)
c.3879T>A (p.Asn1293Lys)
c.1011T>A (p.Asn337Lys)
18g.33743895T>CCA503770480ASXL3c.4050T>C (p.Asn1350=)
c.4047T>C (p.Asn1349=)
c.3927T>C (p.Asn1309=)
c.4023T>C (p.Asn1341=)
c.3969T>C (p.Asn1323=)
c.3930T>C (p.Asn1310=)
c.3879T>C (p.Asn1293=)
c.1011T>C (p.Asn337=)
 dbSNP gnomAD v3 gnomAD v4
18g.33743895T>GCA402189738ASXL3c.4050T>G (p.Asn1350Lys)
c.4047T>G (p.Asn1349Lys)
c.3927T>G (p.Asn1309Lys)
c.4023T>G (p.Asn1341Lys)
c.3969T>G (p.Asn1323Lys)
c.3930T>G (p.Asn1310Lys)
c.3879T>G (p.Asn1293Lys)
c.1011T>G (p.Asn337Lys)
18g.33743895T=CA2294857891ASXL3c.4050T= (p.Asn1350=)
c.4047T= (p.Asn1349=)
c.3927T= (p.Asn1309=)
c.4023T= (p.Asn1341=)
c.3969T= (p.Asn1323=)
c.3930T= (p.Asn1310=)
c.3879T= (p.Asn1293=)
c.1011T= (p.Asn337=)
18g.33743896T>ACA402189743ASXL3c.4051T>A (p.Leu1351Met)
c.4048T>A (p.Leu1350Met)
c.3928T>A (p.Leu1310Met)
c.4024T>A (p.Leu1342Met)
c.3970T>A (p.Leu1324Met)
c.3931T>A (p.Leu1311Met)
c.3880T>A (p.Leu1294Met)
c.1012T>A (p.Leu338Met)
18g.33743896T>CCA503770485ASXL3c.4051T>C (p.Leu1351=)
c.4048T>C (p.Leu1350=)
c.3928T>C (p.Leu1310=)
c.4024T>C (p.Leu1342=)
c.3970T>C (p.Leu1324=)
c.3931T>C (p.Leu1311=)
c.3880T>C (p.Leu1294=)
c.1012T>C (p.Leu338=)
18g.33743896T>GCA402189745ASXL3c.4051T>G (p.Leu1351Val)
c.4048T>G (p.Leu1350Val)
c.3928T>G (p.Leu1310Val)
c.4024T>G (p.Leu1342Val)
c.3970T>G (p.Leu1324Val)
c.3931T>G (p.Leu1311Val)
c.3880T>G (p.Leu1294Val)
c.1012T>G (p.Leu338Val)
18g.33743897T>ACA402189750ASXL3c.4052T>A (p.Leu1351Ter)
c.4049T>A (p.Leu1350Ter)
c.3929T>A (p.Leu1310Ter)
c.4025T>A (p.Leu1342Ter)
c.3971T>A (p.Leu1324Ter)
c.3932T>A (p.Leu1311Ter)
c.3881T>A (p.Leu1294Ter)
c.1013T>A (p.Leu338Ter)
18g.33743897T>CCA402189753ASXL3c.4052T>C (p.Leu1351Ser)
c.4049T>C (p.Leu1350Ser)
c.3929T>C (p.Leu1310Ser)
c.4025T>C (p.Leu1342Ser)
c.3971T>C (p.Leu1324Ser)
c.3932T>C (p.Leu1311Ser)
c.3881T>C (p.Leu1294Ser)
c.1013T>C (p.Leu338Ser)
18g.33743897T>GCA402189755ASXL3c.4052T>G (p.Leu1351Trp)
c.4049T>G (p.Leu1350Trp)
c.3929T>G (p.Leu1310Trp)
c.4025T>G (p.Leu1342Trp)
c.3971T>G (p.Leu1324Trp)
c.3932T>G (p.Leu1311Trp)
c.3881T>G (p.Leu1294Trp)
c.1013T>G (p.Leu338Trp)
18g.33743898G>ACA503770491ASXL3c.4053G>A (p.Leu1351=)
c.4050G>A (p.Leu1350=)
c.3930G>A (p.Leu1310=)
c.4026G>A (p.Leu1342=)
c.3972G>A (p.Leu1324=)
c.3933G>A (p.Leu1311=)
c.3882G>A (p.Leu1294=)
c.1014G>A (p.Leu338=)
18g.33743898G>CCA402189766ASXL3c.4053G>C (p.Leu1351Phe)
c.4050G>C (p.Leu1350Phe)
c.3930G>C (p.Leu1310Phe)
c.4026G>C (p.Leu1342Phe)
c.3972G>C (p.Leu1324Phe)
c.3933G>C (p.Leu1311Phe)
c.3882G>C (p.Leu1294Phe)
c.1014G>C (p.Leu338Phe)
18g.33743898G>TCA402189769ASXL3c.4053G>T (p.Leu1351Phe)
c.4050G>T (p.Leu1350Phe)
c.3930G>T (p.Leu1310Phe)
c.4026G>T (p.Leu1342Phe)
c.3972G>T (p.Leu1324Phe)
c.3933G>T (p.Leu1311Phe)
c.3882G>T (p.Leu1294Phe)
c.1014G>T (p.Leu338Phe)
18g.33743899C>ACA402189779ASXL3c.4054C>A (p.Pro1352Thr)
c.4051C>A (p.Pro1351Thr)
c.3931C>A (p.Pro1311Thr)
c.4027C>A (p.Pro1343Thr)
c.3973C>A (p.Pro1325Thr)
c.3934C>A (p.Pro1312Thr)
c.3883C>A (p.Pro1295Thr)
c.1015C>A (p.Pro339Thr)
18g.33743899C>GCA402189775ASXL3c.4054C>G (p.Pro1352Ala)
c.4051C>G (p.Pro1351Ala)
c.3931C>G (p.Pro1311Ala)
c.4027C>G (p.Pro1343Ala)
c.3973C>G (p.Pro1325Ala)
c.3934C>G (p.Pro1312Ala)
c.3883C>G (p.Pro1295Ala)
c.1015C>G (p.Pro339Ala)
18g.33743899C>TCA402189777ASXL3c.4054C>T (p.Pro1352Ser)
c.4051C>T (p.Pro1351Ser)
c.3931C>T (p.Pro1311Ser)
c.4027C>T (p.Pro1343Ser)
c.3973C>T (p.Pro1325Ser)
c.3934C>T (p.Pro1312Ser)
c.3883C>T (p.Pro1295Ser)
c.1015C>T (p.Pro339Ser)
18g.33743900C>ACA402189782ASXL3c.4055C>A (p.Pro1352Gln)
c.4052C>A (p.Pro1351Gln)
c.3932C>A (p.Pro1311Gln)
c.4028C>A (p.Pro1343Gln)
c.3974C>A (p.Pro1325Gln)
c.3935C>A (p.Pro1312Gln)
c.3884C>A (p.Pro1295Gln)
c.1016C>A (p.Pro339Gln)
 COSMIC
18g.33743900C>GCA402189783ASXL3c.4055C>G (p.Pro1352Arg)
c.4052C>G (p.Pro1351Arg)
c.3932C>G (p.Pro1311Arg)
c.4028C>G (p.Pro1343Arg)
c.3974C>G (p.Pro1325Arg)
c.3935C>G (p.Pro1312Arg)
c.3884C>G (p.Pro1295Arg)
c.1016C>G (p.Pro339Arg)
18g.33743900C>TCA402189784ASXL3c.4055C>T (p.Pro1352Leu)
c.4052C>T (p.Pro1351Leu)
c.3932C>T (p.Pro1311Leu)
c.4028C>T (p.Pro1343Leu)
c.3974C>T (p.Pro1325Leu)
c.3935C>T (p.Pro1312Leu)
c.3884C>T (p.Pro1295Leu)
c.1016C>T (p.Pro339Leu)
 gnomAD v3 gnomAD v4
18g.33743901A>CCA503770501ASXL3c.4056A>C (p.Pro1352=)
c.4053A>C (p.Pro1351=)
c.3933A>C (p.Pro1311=)
c.4029A>C (p.Pro1343=)
c.3975A>C (p.Pro1325=)
c.3936A>C (p.Pro1312=)
c.3885A>C (p.Pro1295=)
c.1017A>C (p.Pro339=)
18g.33743901A>GCA503770502ASXL3c.4056A>G (p.Pro1352=)
c.4053A>G (p.Pro1351=)
c.3933A>G (p.Pro1311=)
c.4029A>G (p.Pro1343=)
c.3975A>G (p.Pro1325=)
c.3936A>G (p.Pro1312=)
c.3885A>G (p.Pro1295=)
c.1017A>G (p.Pro339=)
18g.33743901A>TCA503770504ASXL3c.4056A>T (p.Pro1352=)
c.4053A>T (p.Pro1351=)
c.3933A>T (p.Pro1311=)
c.4029A>T (p.Pro1343=)
c.3975A>T (p.Pro1325=)
c.3936A>T (p.Pro1312=)
c.3885A>T (p.Pro1295=)
c.1017A>T (p.Pro339=)
18g.33743902A=CA2294857892ASXL3c.4057A= (p.Asn1353=)
c.4054A= (p.Asn1352=)
c.3934A= (p.Asn1312=)
c.4030A= (p.Asn1344=)
c.3976A= (p.Asn1326=)
c.3937A= (p.Asn1313=)
c.3886A= (p.Asn1296=)
c.1018A= (p.Asn340=)
18g.33743902A>CCA402189786ASXL3c.4057A>C (p.Asn1353His)
c.4054A>C (p.Asn1352His)
c.3934A>C (p.Asn1312His)
c.4030A>C (p.Asn1344His)
c.3976A>C (p.Asn1326His)
c.3937A>C (p.Asn1313His)
c.3886A>C (p.Asn1296His)
c.1018A>C (p.Asn340His)
 gnomAD v4
18g.33743902A>GCA8934164ASXL3c.4057A>G (p.Asn1353Asp)
c.4054A>G (p.Asn1352Asp)
c.3934A>G (p.Asn1312Asp)
c.4030A>G (p.Asn1344Asp)
c.3976A>G (p.Asn1326Asp)
c.3937A>G (p.Asn1313Asp)
c.3886A>G (p.Asn1296Asp)
c.1018A>G (p.Asn340Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743902A>TCA402189791ASXL3c.4057A>T (p.Asn1353Tyr)
c.4054A>T (p.Asn1352Tyr)
c.3934A>T (p.Asn1312Tyr)
c.4030A>T (p.Asn1344Tyr)
c.3976A>T (p.Asn1326Tyr)
c.3937A>T (p.Asn1313Tyr)
c.3886A>T (p.Asn1296Tyr)
c.1018A>T (p.Asn340Tyr)
18g.33743903A>CCA402189795ASXL3c.4058A>C (p.Asn1353Thr)
c.4055A>C (p.Asn1352Thr)
c.3935A>C (p.Asn1312Thr)
c.4031A>C (p.Asn1344Thr)
c.3977A>C (p.Asn1326Thr)
c.3938A>C (p.Asn1313Thr)
c.3887A>C (p.Asn1296Thr)
c.1019A>C (p.Asn340Thr)
18g.33743903A>GCA402189799ASXL3c.4058A>G (p.Asn1353Ser)
c.4055A>G (p.Asn1352Ser)
c.3935A>G (p.Asn1312Ser)
c.4031A>G (p.Asn1344Ser)
c.3977A>G (p.Asn1326Ser)
c.3938A>G (p.Asn1313Ser)
c.3887A>G (p.Asn1296Ser)
c.1019A>G (p.Asn340Ser)
18g.33743903A>TCA402189801ASXL3c.4058A>T (p.Asn1353Ile)
c.4055A>T (p.Asn1352Ile)
c.3935A>T (p.Asn1312Ile)
c.4031A>T (p.Asn1344Ile)
c.3977A>T (p.Asn1326Ile)
c.3938A>T (p.Asn1313Ile)
c.3887A>T (p.Asn1296Ile)
c.1019A>T (p.Asn340Ile)
18g.33743904C>ACA402189804ASXL3c.4059C>A (p.Asn1353Lys)
c.4056C>A (p.Asn1352Lys)
c.3936C>A (p.Asn1312Lys)
c.4032C>A (p.Asn1344Lys)
c.3978C>A (p.Asn1326Lys)
c.3939C>A (p.Asn1313Lys)
c.3888C>A (p.Asn1296Lys)
c.1020C>A (p.Asn340Lys)
18g.33743904C=CA2294857893ASXL3c.4059C= (p.Asn1353=)
c.4056C= (p.Asn1352=)
c.3936C= (p.Asn1312=)
c.4032C= (p.Asn1344=)
c.3978C= (p.Asn1326=)
c.3939C= (p.Asn1313=)
c.3888C= (p.Asn1296=)
c.1020C= (p.Asn340=)
18g.33743904C>GCA402189806ASXL3c.4059C>G (p.Asn1353Lys)
c.4056C>G (p.Asn1352Lys)
c.3936C>G (p.Asn1312Lys)
c.4032C>G (p.Asn1344Lys)
c.3978C>G (p.Asn1326Lys)
c.3939C>G (p.Asn1313Lys)
c.3888C>G (p.Asn1296Lys)
c.1020C>G (p.Asn340Lys)
 dbSNP gnomAD v2 gnomAD v4
18g.33743904C>TCA503770510ASXL3c.4059C>T (p.Asn1353=)
c.4056C>T (p.Asn1352=)
c.3936C>T (p.Asn1312=)
c.4032C>T (p.Asn1344=)
c.3978C>T (p.Asn1326=)
c.3939C>T (p.Asn1313=)
c.3888C>T (p.Asn1296=)
c.1020C>T (p.Asn340=)
 gnomAD v4
18g.33743905C>ACA402189811ASXL3c.4060C>A (p.Leu1354Ile)
c.4057C>A (p.Leu1353Ile)
c.3937C>A (p.Leu1313Ile)
c.4033C>A (p.Leu1345Ile)
c.3979C>A (p.Leu1327Ile)
c.3940C>A (p.Leu1314Ile)
c.3889C>A (p.Leu1297Ile)
c.1021C>A (p.Leu341Ile)
18g.33743905C=CA2294857894ASXL3c.4060C= (p.Leu1354=)
c.4057C= (p.Leu1353=)
c.3937C= (p.Leu1313=)
c.4033C= (p.Leu1345=)
c.3979C= (p.Leu1327=)
c.3940C= (p.Leu1314=)
c.3889C= (p.Leu1297=)
c.1021C= (p.Leu341=)
18g.33743905C>GCA402189813ASXL3c.4060C>G (p.Leu1354Val)
c.4057C>G (p.Leu1353Val)
c.3937C>G (p.Leu1313Val)
c.4033C>G (p.Leu1345Val)
c.3979C>G (p.Leu1327Val)
c.3940C>G (p.Leu1314Val)
c.3889C>G (p.Leu1297Val)
c.1021C>G (p.Leu341Val)
18g.33743905C>TCA8934165ASXL3c.4060C>T (p.Leu1354Phe)
c.4057C>T (p.Leu1353Phe)
c.3937C>T (p.Leu1313Phe)
c.4033C>T (p.Leu1345Phe)
c.3979C>T (p.Leu1327Phe)
c.3940C>T (p.Leu1314Phe)
c.3889C>T (p.Leu1297Phe)
c.1021C>T (p.Leu341Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743906T>ACA402189816ASXL3c.4061T>A (p.Leu1354His)
c.4058T>A (p.Leu1353His)
c.3938T>A (p.Leu1313His)
c.4034T>A (p.Leu1345His)
c.3980T>A (p.Leu1327His)
c.3941T>A (p.Leu1314His)
c.3890T>A (p.Leu1297His)
c.1022T>A (p.Leu341His)
18g.33743906T>CCA402189818ASXL3c.4061T>C (p.Leu1354Pro)
c.4058T>C (p.Leu1353Pro)
c.3938T>C (p.Leu1313Pro)
c.4034T>C (p.Leu1345Pro)
c.3980T>C (p.Leu1327Pro)
c.3941T>C (p.Leu1314Pro)
c.3890T>C (p.Leu1297Pro)
c.1022T>C (p.Leu341Pro)
18g.33743906T>GCA402189819ASXL3c.4061T>G (p.Leu1354Arg)
c.4058T>G (p.Leu1353Arg)
c.3938T>G (p.Leu1313Arg)
c.4034T>G (p.Leu1345Arg)
c.3980T>G (p.Leu1327Arg)
c.3941T>G (p.Leu1314Arg)
c.3890T>G (p.Leu1297Arg)
c.1022T>G (p.Leu341Arg)
18g.33743907C>ACA503770515ASXL3c.4062C>A (p.Leu1354=)
c.4059C>A (p.Leu1353=)
c.3939C>A (p.Leu1313=)
c.4035C>A (p.Leu1345=)
c.3981C>A (p.Leu1327=)
c.3942C>A (p.Leu1314=)
c.3891C>A (p.Leu1297=)
c.1023C>A (p.Leu341=)
 gnomAD v4
18g.33743907C>GCA503770518ASXL3c.4062C>G (p.Leu1354=)
c.4059C>G (p.Leu1353=)
c.3939C>G (p.Leu1313=)
c.4035C>G (p.Leu1345=)
c.3981C>G (p.Leu1327=)
c.3942C>G (p.Leu1314=)
c.3891C>G (p.Leu1297=)
c.1023C>G (p.Leu341=)
18g.33743907C>TCA503770519ASXL3c.4062C>T (p.Leu1354=)
c.4059C>T (p.Leu1353=)
c.3939C>T (p.Leu1313=)
c.4035C>T (p.Leu1345=)
c.3981C>T (p.Leu1327=)
c.3942C>T (p.Leu1314=)
c.3891C>T (p.Leu1297=)
c.1023C>T (p.Leu341=)
 COSMIC
18g.33743908T>ACA402189821ASXL3c.4063T>A (p.Ser1355Thr)
c.4060T>A (p.Ser1354Thr)
c.3940T>A (p.Ser1314Thr)
c.4036T>A (p.Ser1346Thr)
c.3982T>A (p.Ser1328Thr)
c.3943T>A (p.Ser1315Thr)
c.3892T>A (p.Ser1298Thr)
c.1024T>A (p.Ser342Thr)
18g.33743908T>CCA297793319ASXL3c.4063T>C (p.Ser1355Pro)
c.4060T>C (p.Ser1354Pro)
c.3940T>C (p.Ser1314Pro)
c.4036T>C (p.Ser1346Pro)
c.3982T>C (p.Ser1328Pro)
c.3943T>C (p.Ser1315Pro)
c.3892T>C (p.Ser1298Pro)
c.1024T>C (p.Ser342Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743908T>GCA402189825ASXL3c.4063T>G (p.Ser1355Ala)
c.4060T>G (p.Ser1354Ala)
c.3940T>G (p.Ser1314Ala)
c.4036T>G (p.Ser1346Ala)
c.3982T>G (p.Ser1328Ala)
c.3943T>G (p.Ser1315Ala)
c.3892T>G (p.Ser1298Ala)
c.1024T>G (p.Ser342Ala)
18g.33743908T=CA2294857895ASXL3c.4063T= (p.Ser1355=)
c.4060T= (p.Ser1354=)
c.3940T= (p.Ser1314=)
c.4036T= (p.Ser1346=)
c.3982T= (p.Ser1328=)
c.3943T= (p.Ser1315=)
c.3892T= (p.Ser1298=)
c.1024T= (p.Ser342=)
18g.33743909C>ACA402189827ASXL3c.4064C>A (p.Ser1355Tyr)
c.4061C>A (p.Ser1354Tyr)
c.3941C>A (p.Ser1314Tyr)
c.4037C>A (p.Ser1346Tyr)
c.3983C>A (p.Ser1328Tyr)
c.3944C>A (p.Ser1315Tyr)
c.3893C>A (p.Ser1298Tyr)
c.1025C>A (p.Ser342Tyr)
 COSMIC
18g.33743909C=CA2294857896ASXL3c.4064C= (p.Ser1355=)
c.4061C= (p.Ser1354=)
c.3941C= (p.Ser1314=)
c.4037C= (p.Ser1346=)
c.3983C= (p.Ser1328=)
c.3944C= (p.Ser1315=)
c.3893C= (p.Ser1298=)
c.1025C= (p.Ser342=)
18g.33743909C>GCA297793323ASXL3c.4064C>G (p.Ser1355Cys)
c.4061C>G (p.Ser1354Cys)
c.3941C>G (p.Ser1314Cys)
c.4037C>G (p.Ser1346Cys)
c.3983C>G (p.Ser1328Cys)
c.3944C>G (p.Ser1315Cys)
c.3893C>G (p.Ser1298Cys)
c.1025C>G (p.Ser342Cys)
 dbSNP
18g.33743909C>TCA402189832ASXL3c.4064C>T (p.Ser1355Phe)
c.4061C>T (p.Ser1354Phe)
c.3941C>T (p.Ser1314Phe)
c.4037C>T (p.Ser1346Phe)
c.3983C>T (p.Ser1328Phe)
c.3944C>T (p.Ser1315Phe)
c.3893C>T (p.Ser1298Phe)
c.1025C>T (p.Ser342Phe)
 gnomAD v4
18g.33743910C>ACA503770523ASXL3c.4065C>A (p.Ser1355=)
c.4062C>A (p.Ser1354=)
c.3942C>A (p.Ser1314=)
c.4038C>A (p.Ser1346=)
c.3984C>A (p.Ser1328=)
c.3945C>A (p.Ser1315=)
c.3894C>A (p.Ser1298=)
c.1026C>A (p.Ser342=)
18g.33743910C>GCA503770529ASXL3c.4065C>G (p.Ser1355=)
c.4062C>G (p.Ser1354=)
c.3942C>G (p.Ser1314=)
c.4038C>G (p.Ser1346=)
c.3984C>G (p.Ser1328=)
c.3945C>G (p.Ser1315=)
c.3894C>G (p.Ser1298=)
c.1026C>G (p.Ser342=)
18g.33743910C>TCA503770526ASXL3c.4065C>T (p.Ser1355=)
c.4062C>T (p.Ser1354=)
c.3942C>T (p.Ser1314=)
c.4038C>T (p.Ser1346=)
c.3984C>T (p.Ser1328=)
c.3945C>T (p.Ser1315=)
c.3894C>T (p.Ser1298=)
c.1026C>T (p.Ser342=)
18g.33743911A>CCA402189834ASXL3c.4066A>C (p.Thr1356Pro)
c.4063A>C (p.Thr1355Pro)
c.3943A>C (p.Thr1315Pro)
c.4039A>C (p.Thr1347Pro)
c.3985A>C (p.Thr1329Pro)
c.3946A>C (p.Thr1316Pro)
c.3895A>C (p.Thr1299Pro)
c.1027A>C (p.Thr343Pro)
18g.33743911A>GCA402189836ASXL3c.4066A>G (p.Thr1356Ala)
c.4063A>G (p.Thr1355Ala)
c.3943A>G (p.Thr1315Ala)
c.4039A>G (p.Thr1347Ala)
c.3985A>G (p.Thr1329Ala)
c.3946A>G (p.Thr1316Ala)
c.3895A>G (p.Thr1299Ala)
c.1027A>G (p.Thr343Ala)
18g.33743911A>TCA402189838ASXL3c.4066A>T (p.Thr1356Ser)
c.4063A>T (p.Thr1355Ser)
c.3943A>T (p.Thr1315Ser)
c.4039A>T (p.Thr1347Ser)
c.3985A>T (p.Thr1329Ser)
c.3946A>T (p.Thr1316Ser)
c.3895A>T (p.Thr1299Ser)
c.1027A>T (p.Thr343Ser)
 COSMIC
18g.33743912C>ACA402189842ASXL3c.4067C>A (p.Thr1356Asn)
c.4064C>A (p.Thr1355Asn)
c.3944C>A (p.Thr1315Asn)
c.4040C>A (p.Thr1347Asn)
c.3986C>A (p.Thr1329Asn)
c.3947C>A (p.Thr1316Asn)
c.3896C>A (p.Thr1299Asn)
c.1028C>A (p.Thr343Asn)
18g.33743912C>GCA402189845ASXL3c.4067C>G (p.Thr1356Ser)
c.4064C>G (p.Thr1355Ser)
c.3944C>G (p.Thr1315Ser)
c.4040C>G (p.Thr1347Ser)
c.3986C>G (p.Thr1329Ser)
c.3947C>G (p.Thr1316Ser)
c.3896C>G (p.Thr1299Ser)
c.1028C>G (p.Thr343Ser)
18g.33743912C>TCA402189841ASXL3c.4067C>T (p.Thr1356Ile)
c.4064C>T (p.Thr1355Ile)
c.3944C>T (p.Thr1315Ile)
c.4040C>T (p.Thr1347Ile)
c.3986C>T (p.Thr1329Ile)
c.3947C>T (p.Thr1316Ile)
c.3896C>T (p.Thr1299Ile)
c.1028C>T (p.Thr343Ile)
18g.33743913T>ACA503770534ASXL3c.4068T>A (p.Thr1356=)
c.4065T>A (p.Thr1355=)
c.3945T>A (p.Thr1315=)
c.4041T>A (p.Thr1347=)
c.3987T>A (p.Thr1329=)
c.3948T>A (p.Thr1316=)
c.3897T>A (p.Thr1299=)
c.1029T>A (p.Thr343=)
18g.33743913T>CCA503770536ASXL3c.4068T>C (p.Thr1356=)
c.4065T>C (p.Thr1355=)
c.3945T>C (p.Thr1315=)
c.4041T>C (p.Thr1347=)
c.3987T>C (p.Thr1329=)
c.3948T>C (p.Thr1316=)
c.3897T>C (p.Thr1299=)
c.1029T>C (p.Thr343=)
 gnomAD v4 COSMIC
18g.33743913T>GCA503770541ASXL3c.4068T>G (p.Thr1356=)
c.4065T>G (p.Thr1355=)
c.3945T>G (p.Thr1315=)
c.4041T>G (p.Thr1347=)
c.3987T>G (p.Thr1329=)
c.3948T>G (p.Thr1316=)
c.3897T>G (p.Thr1299=)
c.1029T>G (p.Thr343=)
 gnomAD v4
18g.33743914A=CA2294857897ASXL3c.4069A= (p.Ser1357=)
c.4066A= (p.Ser1356=)
c.3946A= (p.Ser1316=)
c.4042A= (p.Ser1348=)
c.3988A= (p.Ser1330=)
c.3949A= (p.Ser1317=)
c.3898A= (p.Ser1300=)
c.1030A= (p.Ser344=)
18g.33743914A>CCA402189848ASXL3c.4069A>C (p.Ser1357Arg)
c.4066A>C (p.Ser1356Arg)
c.3946A>C (p.Ser1316Arg)
c.4042A>C (p.Ser1348Arg)
c.3988A>C (p.Ser1330Arg)
c.3949A>C (p.Ser1317Arg)
c.3898A>C (p.Ser1300Arg)
c.1030A>C (p.Ser344Arg)
18g.33743914A>GCA402189850ASXL3c.4069A>G (p.Ser1357Gly)
c.4066A>G (p.Ser1356Gly)
c.3946A>G (p.Ser1316Gly)
c.4042A>G (p.Ser1348Gly)
c.3988A>G (p.Ser1330Gly)
c.3949A>G (p.Ser1317Gly)
c.3898A>G (p.Ser1300Gly)
c.1030A>G (p.Ser344Gly)
 ClinVar dbSNP
18g.33743914A>TCA402189852ASXL3c.4069A>T (p.Ser1357Cys)
c.4066A>T (p.Ser1356Cys)
c.3946A>T (p.Ser1316Cys)
c.4042A>T (p.Ser1348Cys)
c.3988A>T (p.Ser1330Cys)
c.3949A>T (p.Ser1317Cys)
c.3898A>T (p.Ser1300Cys)
c.1030A>T (p.Ser344Cys)
18g.33743915G>ACA402189854ASXL3c.4070G>A (p.Ser1357Asn)
c.4067G>A (p.Ser1356Asn)
c.3947G>A (p.Ser1316Asn)
c.4043G>A (p.Ser1348Asn)
c.3989G>A (p.Ser1330Asn)
c.3950G>A (p.Ser1317Asn)
c.3899G>A (p.Ser1300Asn)
c.1031G>A (p.Ser344Asn)
18g.33743915G>CCA402189857ASXL3c.4070G>C (p.Ser1357Thr)
c.4067G>C (p.Ser1356Thr)
c.3947G>C (p.Ser1316Thr)
c.4043G>C (p.Ser1348Thr)
c.3989G>C (p.Ser1330Thr)
c.3950G>C (p.Ser1317Thr)
c.3899G>C (p.Ser1300Thr)
c.1031G>C (p.Ser344Thr)
18g.33743915G>TCA402189859ASXL3c.4070G>T (p.Ser1357Ile)
c.4067G>T (p.Ser1356Ile)
c.3947G>T (p.Ser1316Ile)
c.4043G>T (p.Ser1348Ile)
c.3989G>T (p.Ser1330Ile)
c.3950G>T (p.Ser1317Ile)
c.3899G>T (p.Ser1300Ile)
c.1031G>T (p.Ser344Ile)
18g.33743916C>ACA402189864ASXL3c.4071C>A (p.Ser1357Arg)
c.4068C>A (p.Ser1356Arg)
c.3948C>A (p.Ser1316Arg)
c.4044C>A (p.Ser1348Arg)
c.3990C>A (p.Ser1330Arg)
c.3951C>A (p.Ser1317Arg)
c.3900C>A (p.Ser1300Arg)
c.1032C>A (p.Ser344Arg)
18g.33743916C=CA2294857898ASXL3c.4071C= (p.Ser1357=)
c.4068C= (p.Ser1356=)
c.3948C= (p.Ser1316=)
c.4044C= (p.Ser1348=)
c.3990C= (p.Ser1330=)
c.3951C= (p.Ser1317=)
c.3900C= (p.Ser1300=)
c.1032C= (p.Ser344=)
18g.33743916C>GCA402189862ASXL3c.4071C>G (p.Ser1357Arg)
c.4068C>G (p.Ser1356Arg)
c.3948C>G (p.Ser1316Arg)
c.4044C>G (p.Ser1348Arg)
c.3990C>G (p.Ser1330Arg)
c.3951C>G (p.Ser1317Arg)
c.3900C>G (p.Ser1300Arg)
c.1032C>G (p.Ser344Arg)
18g.33743916C>TCA503770558ASXL3c.4071C>T (p.Ser1357=)
c.4068C>T (p.Ser1356=)
c.3948C>T (p.Ser1316=)
c.4044C>T (p.Ser1348=)
c.3990C>T (p.Ser1330=)
c.3951C>T (p.Ser1317=)
c.3900C>T (p.Ser1300=)
c.1032C>T (p.Ser344=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743918_33743919delCA2739291109ASXL3c.4073_4074del (p.Ser1358CysfsTer9)
c.4070_4071del (p.Ser1357CysfsTer9)
c.3950_3951del (p.Ser1317CysfsTer9)
c.4046_4047del (p.Ser1349CysfsTer9)
c.3992_3993del (p.Ser1331CysfsTer9)
c.3953_3954del (p.Ser1318CysfsTer9)
c.3902_3903del (p.Ser1301CysfsTer9)
c.1034_1035del (p.Ser345CysfsTer9)
18g.33743917T>ACA402189866ASXL3c.4072T>A (p.Ser1358Thr)
c.4069T>A (p.Ser1357Thr)
c.3949T>A (p.Ser1317Thr)
c.4045T>A (p.Ser1349Thr)
c.3991T>A (p.Ser1331Thr)
c.3952T>A (p.Ser1318Thr)
c.3901T>A (p.Ser1301Thr)
c.1033T>A (p.Ser345Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743917T>CCA402189868ASXL3c.4072T>C (p.Ser1358Pro)
c.4069T>C (p.Ser1357Pro)
c.3949T>C (p.Ser1317Pro)
c.4045T>C (p.Ser1349Pro)
c.3991T>C (p.Ser1331Pro)
c.3952T>C (p.Ser1318Pro)
c.3901T>C (p.Ser1301Pro)
c.1033T>C (p.Ser345Pro)
18g.33743917T>GCA402189869ASXL3c.4072T>G (p.Ser1358Ala)
c.4069T>G (p.Ser1357Ala)
c.3949T>G (p.Ser1317Ala)
c.4045T>G (p.Ser1349Ala)
c.3991T>G (p.Ser1331Ala)
c.3952T>G (p.Ser1318Ala)
c.3901T>G (p.Ser1301Ala)
c.1033T>G (p.Ser345Ala)
18g.33743917T=CA2294857899ASXL3c.4072T= (p.Ser1358=)
c.4069T= (p.Ser1357=)
c.3949T= (p.Ser1317=)
c.4045T= (p.Ser1349=)
c.3991T= (p.Ser1331=)
c.3952T= (p.Ser1318=)
c.3901T= (p.Ser1301=)
c.1033T= (p.Ser345=)
18g.33743918C>ACA402189872ASXL3c.4073C>A (p.Ser1358Tyr)
c.4070C>A (p.Ser1357Tyr)
c.3950C>A (p.Ser1317Tyr)
c.4046C>A (p.Ser1349Tyr)
c.3992C>A (p.Ser1331Tyr)
c.3953C>A (p.Ser1318Tyr)
c.3902C>A (p.Ser1301Tyr)
c.1034C>A (p.Ser345Tyr)
 COSMIC
18g.33743918C>GCA402189874ASXL3c.4073C>G (p.Ser1358Cys)
c.4070C>G (p.Ser1357Cys)
c.3950C>G (p.Ser1317Cys)
c.4046C>G (p.Ser1349Cys)
c.3992C>G (p.Ser1331Cys)
c.3953C>G (p.Ser1318Cys)
c.3902C>G (p.Ser1301Cys)
c.1034C>G (p.Ser345Cys)
18g.33743918C>TCA402189876ASXL3c.4073C>T (p.Ser1358Phe)
c.4070C>T (p.Ser1357Phe)
c.3950C>T (p.Ser1317Phe)
c.4046C>T (p.Ser1349Phe)
c.3992C>T (p.Ser1331Phe)
c.3953C>T (p.Ser1318Phe)
c.3902C>T (p.Ser1301Phe)
c.1034C>T (p.Ser345Phe)
18g.33743919T>ACA503770565ASXL3c.4074T>A (p.Ser1358=)
c.4071T>A (p.Ser1357=)
c.3951T>A (p.Ser1317=)
c.4047T>A (p.Ser1349=)
c.3993T>A (p.Ser1331=)
c.3954T>A (p.Ser1318=)
c.3903T>A (p.Ser1301=)
c.1035T>A (p.Ser345=)
18g.33743919T>CCA503770566ASXL3c.4074T>C (p.Ser1358=)
c.4071T>C (p.Ser1357=)
c.3951T>C (p.Ser1317=)
c.4047T>C (p.Ser1349=)
c.3993T>C (p.Ser1331=)
c.3954T>C (p.Ser1318=)
c.3903T>C (p.Ser1301=)
c.1035T>C (p.Ser345=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743919T>GCA503770571ASXL3c.4074T>G (p.Ser1358=)
c.4071T>G (p.Ser1357=)
c.3951T>G (p.Ser1317=)
c.4047T>G (p.Ser1349=)
c.3993T>G (p.Ser1331=)
c.3954T>G (p.Ser1318=)
c.3903T>G (p.Ser1301=)
c.1035T>G (p.Ser345=)
 gnomAD v4
18g.33743919T=CA2294857900ASXL3c.4074T= (p.Ser1358=)
c.4071T= (p.Ser1357=)
c.3951T= (p.Ser1317=)
c.4047T= (p.Ser1349=)
c.3993T= (p.Ser1331=)
c.3954T= (p.Ser1318=)
c.3903T= (p.Ser1301=)
c.1035T= (p.Ser345=)
18g.33743920_33743921delCA2695227399ASXL3c.4075_4076del (p.Val1359LeufsTer8)
c.4072_4073del (p.Val1358LeufsTer8)
c.3952_3953del (p.Val1318LeufsTer8)
c.4048_4049del (p.Val1350LeufsTer8)
c.3994_3995del (p.Val1332LeufsTer8)
c.3955_3956del (p.Val1319LeufsTer8)
c.3904_3905del (p.Val1302LeufsTer8)
c.1036_1037del (p.Val346LeufsTer8)
18g.33743919_33743933delinsTGTCTTGATTCCCCCCA2294857901ASXL3c.4074_4088delinsTGTCTTGATTCCCCC (p.Ser1358=)
c.4071_4085delinsTGTCTTGATTCCCCC (p.Ser1357=)
c.3951_3965delinsTGTCTTGATTCCCCC (p.Ser1317=)
c.4047_4061delinsTGTCTTGATTCCCCC (p.Ser1349=)
c.3993_4007delinsTGTCTTGATTCCCCC (p.Ser1331=)
c.3954_3968delinsTGTCTTGATTCCCCC (p.Ser1318=)
c.3903_3917delinsTGTCTTGATTCCCCC (p.Ser1301=)
c.1035_1049delinsTGTCTTGATTCCCCC (p.Ser345=)
18g.33743920G>ACA402189883ASXL3c.4075G>A (p.Val1359Ile)
c.4072G>A (p.Val1358Ile)
c.3952G>A (p.Val1318Ile)
c.4048G>A (p.Val1350Ile)
c.3994G>A (p.Val1332Ile)
c.3955G>A (p.Val1319Ile)
c.3904G>A (p.Val1302Ile)
c.1036G>A (p.Val346Ile)
18g.33743920G>CCA402189881ASXL3c.4075G>C (p.Val1359Leu)
c.4072G>C (p.Val1358Leu)
c.3952G>C (p.Val1318Leu)
c.4048G>C (p.Val1350Leu)
c.3994G>C (p.Val1332Leu)
c.3955G>C (p.Val1319Leu)
c.3904G>C (p.Val1302Leu)
c.1036G>C (p.Val346Leu)
18g.33743920G=CA2294857902ASXL3c.4075G= (p.Val1359=)
c.4072G= (p.Val1358=)
c.3952G= (p.Val1318=)
c.4048G= (p.Val1350=)
c.3994G= (p.Val1332=)
c.3955G= (p.Val1319=)
c.3904G= (p.Val1302=)
c.1036G= (p.Val346=)
18g.33743920G>TCA8934166ASXL3c.4075G>T (p.Val1359Phe)
c.4072G>T (p.Val1358Phe)
c.3952G>T (p.Val1318Phe)
c.4048G>T (p.Val1350Phe)
c.3994G>T (p.Val1332Phe)
c.3955G>T (p.Val1319Phe)
c.3904G>T (p.Val1302Phe)
c.1036G>T (p.Val346Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743920_33743933delCA658824693ASXL3c.4075_4088del (p.Val1359AsnfsTer4)
c.4072_4085del (p.Val1358AsnfsTer4)
c.3952_3965del (p.Val1318AsnfsTer4)
c.4048_4061del (p.Val1350AsnfsTer4)
c.3994_4007del (p.Val1332AsnfsTer4)
c.3955_3968del (p.Val1319AsnfsTer4)
c.3904_3917del (p.Val1302AsnfsTer4)
c.1036_1049del (p.Val346AsnfsTer4)
 ClinVar dbSNP
18g.33743921T>ACA402189886ASXL3c.4076T>A (p.Val1359Asp)
c.4073T>A (p.Val1358Asp)
c.3953T>A (p.Val1318Asp)
c.4049T>A (p.Val1350Asp)
c.3995T>A (p.Val1332Asp)
c.3956T>A (p.Val1319Asp)
c.3905T>A (p.Val1302Asp)
c.1037T>A (p.Val346Asp)
18g.33743921T>CCA402189889ASXL3c.4076T>C (p.Val1359Ala)
c.4073T>C (p.Val1358Ala)
c.3953T>C (p.Val1318Ala)
c.4049T>C (p.Val1350Ala)
c.3995T>C (p.Val1332Ala)
c.3956T>C (p.Val1319Ala)
c.3905T>C (p.Val1302Ala)
c.1037T>C (p.Val346Ala)
 COSMIC
18g.33743921T>GCA402189887ASXL3c.4076T>G (p.Val1359Gly)
c.4073T>G (p.Val1358Gly)
c.3953T>G (p.Val1318Gly)
c.4049T>G (p.Val1350Gly)
c.3995T>G (p.Val1332Gly)
c.3956T>G (p.Val1319Gly)
c.3905T>G (p.Val1302Gly)
c.1037T>G (p.Val346Gly)
18g.33743922C>ACA503770582ASXL3c.4077C>A (p.Val1359=)
c.4074C>A (p.Val1358=)
c.3954C>A (p.Val1318=)
c.4050C>A (p.Val1350=)
c.3996C>A (p.Val1332=)
c.3957C>A (p.Val1319=)
c.3906C>A (p.Val1302=)
c.1038C>A (p.Val346=)
18g.33743922C>GCA503770584ASXL3c.4077C>G (p.Val1359=)
c.4074C>G (p.Val1358=)
c.3954C>G (p.Val1318=)
c.4050C>G (p.Val1350=)
c.3996C>G (p.Val1332=)
c.3957C>G (p.Val1319=)
c.3906C>G (p.Val1302=)
c.1038C>G (p.Val346=)
18g.33743922C>TCA503770588ASXL3c.4077C>T (p.Val1359=)
c.4074C>T (p.Val1358=)
c.3954C>T (p.Val1318=)
c.4050C>T (p.Val1350=)
c.3996C>T (p.Val1332=)
c.3957C>T (p.Val1319=)
c.3906C>T (p.Val1302=)
c.1038C>T (p.Val346=)
18g.33743923T>ACA402189891ASXL3c.4078T>A (p.Leu1360Met)
c.4075T>A (p.Leu1359Met)
c.3955T>A (p.Leu1319Met)
c.4051T>A (p.Leu1351Met)
c.3997T>A (p.Leu1333Met)
c.3958T>A (p.Leu1320Met)
c.3907T>A (p.Leu1303Met)
c.1039T>A (p.Leu347Met)
18g.33743923T>CCA503770590ASXL3c.4078T>C (p.Leu1360=)
c.4075T>C (p.Leu1359=)
c.3955T>C (p.Leu1319=)
c.4051T>C (p.Leu1351=)
c.3997T>C (p.Leu1333=)
c.3958T>C (p.Leu1320=)
c.3907T>C (p.Leu1303=)
c.1039T>C (p.Leu347=)
18g.33743923T>GCA402189894ASXL3c.4078T>G (p.Leu1360Val)
c.4075T>G (p.Leu1359Val)
c.3955T>G (p.Leu1319Val)
c.4051T>G (p.Leu1351Val)
c.3997T>G (p.Leu1333Val)
c.3958T>G (p.Leu1320Val)
c.3907T>G (p.Leu1303Val)
c.1039T>G (p.Leu347Val)
 dbSNP gnomAD v3 gnomAD v4
18g.33743923T=CA2294857903ASXL3c.4078T= (p.Leu1360=)
c.4075T= (p.Leu1359=)
c.3955T= (p.Leu1319=)
c.4051T= (p.Leu1351=)
c.3997T= (p.Leu1333=)
c.3958T= (p.Leu1320=)
c.3907T= (p.Leu1303=)
c.1039T= (p.Leu347=)
18g.33743924T>ACA402189896ASXL3c.4079T>A (p.Leu1360Ter)
c.4076T>A (p.Leu1359Ter)
c.3956T>A (p.Leu1319Ter)
c.4052T>A (p.Leu1351Ter)
c.3998T>A (p.Leu1333Ter)
c.3959T>A (p.Leu1320Ter)
c.3908T>A (p.Leu1303Ter)
c.1040T>A (p.Leu347Ter)
18g.33743924T>CCA402189898ASXL3c.4079T>C (p.Leu1360Ser)
c.4076T>C (p.Leu1359Ser)
c.3956T>C (p.Leu1319Ser)
c.4052T>C (p.Leu1351Ser)
c.3998T>C (p.Leu1333Ser)
c.3959T>C (p.Leu1320Ser)
c.3908T>C (p.Leu1303Ser)
c.1040T>C (p.Leu347Ser)
18g.33743924T>GCA402189900ASXL3c.4079T>G (p.Leu1360Trp)
c.4076T>G (p.Leu1359Trp)
c.3956T>G (p.Leu1319Trp)
c.4052T>G (p.Leu1351Trp)
c.3998T>G (p.Leu1333Trp)
c.3959T>G (p.Leu1320Trp)
c.3908T>G (p.Leu1303Trp)
c.1040T>G (p.Leu347Trp)
 dbSNP
18g.33743924T=CA2294857904ASXL3c.4079T= (p.Leu1360=)
c.4076T= (p.Leu1359=)
c.3956T= (p.Leu1319=)
c.4052T= (p.Leu1351=)
c.3998T= (p.Leu1333=)
c.3959T= (p.Leu1320=)
c.3908T= (p.Leu1303=)
c.1040T= (p.Leu347=)
18g.33743925G>ACA503770596ASXL3c.4080G>A (p.Leu1360=)
c.4077G>A (p.Leu1359=)
c.3957G>A (p.Leu1319=)
c.4053G>A (p.Leu1351=)
c.3999G>A (p.Leu1333=)
c.3960G>A (p.Leu1320=)
c.3909G>A (p.Leu1303=)
c.1041G>A (p.Leu347=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
18g.33743925G>CCA402189903ASXL3c.4080G>C (p.Leu1360Phe)
c.4077G>C (p.Leu1359Phe)
c.3957G>C (p.Leu1319Phe)
c.4053G>C (p.Leu1351Phe)
c.3999G>C (p.Leu1333Phe)
c.3960G>C (p.Leu1320Phe)
c.3909G>C (p.Leu1303Phe)
c.1041G>C (p.Leu347Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743925G=CA2294857905ASXL3c.4080G= (p.Leu1360=)
c.4077G= (p.Leu1359=)
c.3957G= (p.Leu1319=)
c.4053G= (p.Leu1351=)
c.3999G= (p.Leu1333=)
c.3960G= (p.Leu1320=)
c.3909G= (p.Leu1303=)
c.1041G= (p.Leu347=)
18g.33743925G>TCA402189905ASXL3c.4080G>T (p.Leu1360Phe)
c.4077G>T (p.Leu1359Phe)
c.3957G>T (p.Leu1319Phe)
c.4053G>T (p.Leu1351Phe)
c.3999G>T (p.Leu1333Phe)
c.3960G>T (p.Leu1320Phe)
c.3909G>T (p.Leu1303Phe)
c.1041G>T (p.Leu347Phe)
18g.33743926A>CCA402189908ASXL3c.4081A>C (p.Ile1361Leu)
c.4078A>C (p.Ile1360Leu)
c.3958A>C (p.Ile1320Leu)
c.4054A>C (p.Ile1352Leu)
c.4000A>C (p.Ile1334Leu)
c.3961A>C (p.Ile1321Leu)
c.3910A>C (p.Ile1304Leu)
c.1042A>C (p.Ile348Leu)
18g.33743926A>GCA402189909ASXL3c.4081A>G (p.Ile1361Val)
c.4078A>G (p.Ile1360Val)
c.3958A>G (p.Ile1320Val)
c.4054A>G (p.Ile1352Val)
c.4000A>G (p.Ile1334Val)
c.3961A>G (p.Ile1321Val)
c.3910A>G (p.Ile1304Val)
c.1042A>G (p.Ile348Val)
18g.33743926A>TCA402189912ASXL3c.4081A>T (p.Ile1361Phe)
c.4078A>T (p.Ile1360Phe)
c.3958A>T (p.Ile1320Phe)
c.4054A>T (p.Ile1352Phe)
c.4000A>T (p.Ile1334Phe)
c.3961A>T (p.Ile1321Phe)
c.3910A>T (p.Ile1304Phe)
c.1042A>T (p.Ile348Phe)
18g.33743927T>ACA402189915ASXL3c.4082T>A (p.Ile1361Asn)
c.4079T>A (p.Ile1360Asn)
c.3959T>A (p.Ile1320Asn)
c.4055T>A (p.Ile1352Asn)
c.4001T>A (p.Ile1334Asn)
c.3962T>A (p.Ile1321Asn)
c.3911T>A (p.Ile1304Asn)
c.1043T>A (p.Ile348Asn)
18g.33743927T>CCA402189916ASXL3c.4082T>C (p.Ile1361Thr)
c.4079T>C (p.Ile1360Thr)
c.3959T>C (p.Ile1320Thr)
c.4055T>C (p.Ile1352Thr)
c.4001T>C (p.Ile1334Thr)
c.3962T>C (p.Ile1321Thr)
c.3911T>C (p.Ile1304Thr)
c.1043T>C (p.Ile348Thr)
18g.33743927T>GCA402189918ASXL3c.4082T>G (p.Ile1361Ser)
c.4079T>G (p.Ile1360Ser)
c.3959T>G (p.Ile1320Ser)
c.4055T>G (p.Ile1352Ser)
c.4001T>G (p.Ile1334Ser)
c.3962T>G (p.Ile1321Ser)
c.3911T>G (p.Ile1304Ser)
c.1043T>G (p.Ile348Ser)
18g.33743928T>ACA8934167ASXL3c.4083T>A (p.Ile1361=)
c.4080T>A (p.Ile1360=)
c.3960T>A (p.Ile1320=)
c.4056T>A (p.Ile1352=)
c.4002T>A (p.Ile1334=)
c.3963T>A (p.Ile1321=)
c.3912T>A (p.Ile1304=)
c.1044T>A (p.Ile348=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743928T>CCA503770603ASXL3c.4083T>C (p.Ile1361=)
c.4080T>C (p.Ile1360=)
c.3960T>C (p.Ile1320=)
c.4056T>C (p.Ile1352=)
c.4002T>C (p.Ile1334=)
c.3963T>C (p.Ile1321=)
c.3912T>C (p.Ile1304=)
c.1044T>C (p.Ile348=)
 dbSNP gnomAD v2 gnomAD v4
18g.33743928T>GCA402189923ASXL3c.4083T>G (p.Ile1361Met)
c.4080T>G (p.Ile1360Met)
c.3960T>G (p.Ile1320Met)
c.4056T>G (p.Ile1352Met)
c.4002T>G (p.Ile1334Met)
c.3963T>G (p.Ile1321Met)
c.3912T>G (p.Ile1304Met)
c.1044T>G (p.Ile348Met)
 ClinVar gnomAD v4
18g.33743928T=CA2294857906ASXL3c.4083T= (p.Ile1361=)
c.4080T= (p.Ile1360=)
c.3960T= (p.Ile1320=)
c.4056T= (p.Ile1352=)
c.4002T= (p.Ile1334=)
c.3963T= (p.Ile1321=)
c.3912T= (p.Ile1304=)
c.1044T= (p.Ile348=)
18g.33743928_33743929delinsTCCA2294857907ASXL3c.4083_4084delinsTC (p.Ile1361=)
c.4080_4081delinsTC (p.Ile1360=)
c.3960_3961delinsTC (p.Ile1320=)
c.4056_4057delinsTC (p.Ile1352=)
c.4002_4003delinsTC (p.Ile1334=)
c.3963_3964delinsTC (p.Ile1321=)
c.3912_3913delinsTC (p.Ile1304=)
c.1044_1045delinsTC (p.Ile348=)
18g.33743929C>ACA402189929ASXL3c.4084C>A (p.Pro1362Thr)
c.4081C>A (p.Pro1361Thr)
c.3961C>A (p.Pro1321Thr)
c.4057C>A (p.Pro1353Thr)
c.4003C>A (p.Pro1335Thr)
c.3964C>A (p.Pro1322Thr)
c.3913C>A (p.Pro1305Thr)
c.1045C>A (p.Pro349Thr)
 gnomAD v4
18g.33743929C>GCA402189928ASXL3c.4084C>G (p.Pro1362Ala)
c.4081C>G (p.Pro1361Ala)
c.3961C>G (p.Pro1321Ala)
c.4057C>G (p.Pro1353Ala)
c.4003C>G (p.Pro1335Ala)
c.3964C>G (p.Pro1322Ala)
c.3913C>G (p.Pro1305Ala)
c.1045C>G (p.Pro349Ala)
18g.33743929C>TCA402189925ASXL3c.4084C>T (p.Pro1362Ser)
c.4081C>T (p.Pro1361Ser)
c.3961C>T (p.Pro1321Ser)
c.4057C>T (p.Pro1353Ser)
c.4003C>T (p.Pro1335Ser)
c.3964C>T (p.Pro1322Ser)
c.3913C>T (p.Pro1305Ser)
c.1045C>T (p.Pro349Ser)
 gnomAD v4 COSMIC
18g.33743933delCA919961068ASXL3c.4088del (p.Pro1363GlnfsTer13)
c.4085del (p.Pro1362GlnfsTer13)
c.3965del (p.Pro1322GlnfsTer13)
c.4061del (p.Pro1354GlnfsTer13)
c.4007del (p.Pro1336GlnfsTer13)
c.3968del (p.Pro1323GlnfsTer13)
c.3917del (p.Pro1306GlnfsTer13)
c.1049del (p.Pro350GlnfsTer13)
 dbSNP
18g.33743930C>ACA402189931ASXL3c.4085C>A (p.Pro1362His)
c.4082C>A (p.Pro1361His)
c.3962C>A (p.Pro1321His)
c.4058C>A (p.Pro1353His)
c.4004C>A (p.Pro1335His)
c.3965C>A (p.Pro1322His)
c.3914C>A (p.Pro1305His)
c.1046C>A (p.Pro349His)
18g.33743930C=CA2294857908ASXL3c.4085C= (p.Pro1362=)
c.4082C= (p.Pro1361=)
c.3962C= (p.Pro1321=)
c.4058C= (p.Pro1353=)
c.4004C= (p.Pro1335=)
c.3965C= (p.Pro1322=)
c.3914C= (p.Pro1305=)
c.1046C= (p.Pro349=)
18g.33743930C>GCA402189933ASXL3c.4085C>G (p.Pro1362Arg)
c.4082C>G (p.Pro1361Arg)
c.3962C>G (p.Pro1321Arg)
c.4058C>G (p.Pro1353Arg)
c.4004C>G (p.Pro1335Arg)
c.3965C>G (p.Pro1322Arg)
c.3914C>G (p.Pro1305Arg)
c.1046C>G (p.Pro349Arg)
 dbSNP gnomAD v4
18g.33743930C>TCA8934168ASXL3c.4085C>T (p.Pro1362Leu)
c.4082C>T (p.Pro1361Leu)
c.3962C>T (p.Pro1321Leu)
c.4058C>T (p.Pro1353Leu)
c.4004C>T (p.Pro1335Leu)
c.3965C>T (p.Pro1322Leu)
c.3914C>T (p.Pro1305Leu)
c.1046C>T (p.Pro349Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743931C>ACA503770615ASXL3c.4086C>A (p.Pro1362=)
c.4083C>A (p.Pro1361=)
c.3963C>A (p.Pro1321=)
c.4059C>A (p.Pro1353=)
c.4005C>A (p.Pro1335=)
c.3966C>A (p.Pro1322=)
c.3915C>A (p.Pro1305=)
c.1047C>A (p.Pro349=)
18g.33743931C=CA2294857909ASXL3c.4086C= (p.Pro1362=)
c.4083C= (p.Pro1361=)
c.3963C= (p.Pro1321=)
c.4059C= (p.Pro1353=)
c.4005C= (p.Pro1335=)
c.3966C= (p.Pro1322=)
c.3915C= (p.Pro1305=)
c.1047C= (p.Pro349=)
18g.33743931C>GCA503770618ASXL3c.4086C>G (p.Pro1362=)
c.4083C>G (p.Pro1361=)
c.3963C>G (p.Pro1321=)
c.4059C>G (p.Pro1353=)
c.4005C>G (p.Pro1335=)
c.3966C>G (p.Pro1322=)
c.3915C>G (p.Pro1305=)
c.1047C>G (p.Pro349=)
18g.33743931C>TCA8934169ASXL3c.4086C>T (p.Pro1362=)
c.4083C>T (p.Pro1361=)
c.3963C>T (p.Pro1321=)
c.4059C>T (p.Pro1353=)
c.4005C>T (p.Pro1335=)
c.3966C>T (p.Pro1322=)
c.3915C>T (p.Pro1305=)
c.1047C>T (p.Pro349=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743932C>ACA402189935ASXL3c.4087C>A (p.Pro1363Thr)
c.4084C>A (p.Pro1362Thr)
c.3964C>A (p.Pro1322Thr)
c.4060C>A (p.Pro1354Thr)
c.4006C>A (p.Pro1336Thr)
c.3967C>A (p.Pro1323Thr)
c.3916C>A (p.Pro1306Thr)
c.1048C>A (p.Pro350Thr)
18g.33743932C>GCA402189938ASXL3c.4087C>G (p.Pro1363Ala)
c.4084C>G (p.Pro1362Ala)
c.3964C>G (p.Pro1322Ala)
c.4060C>G (p.Pro1354Ala)
c.4006C>G (p.Pro1336Ala)
c.3967C>G (p.Pro1323Ala)
c.3916C>G (p.Pro1306Ala)
c.1048C>G (p.Pro350Ala)
18g.33743932C>TCA402189939ASXL3c.4087C>T (p.Pro1363Ser)
c.4084C>T (p.Pro1362Ser)
c.3964C>T (p.Pro1322Ser)
c.4060C>T (p.Pro1354Ser)
c.4006C>T (p.Pro1336Ser)
c.3967C>T (p.Pro1323Ser)
c.3916C>T (p.Pro1306Ser)
c.1048C>T (p.Pro350Ser)
 gnomAD v4
18g.33743933C>ACA402189943ASXL3c.4088C>A (p.Pro1363Gln)
c.4085C>A (p.Pro1362Gln)
c.3965C>A (p.Pro1322Gln)
c.4061C>A (p.Pro1354Gln)
c.4007C>A (p.Pro1336Gln)
c.3968C>A (p.Pro1323Gln)
c.3917C>A (p.Pro1306Gln)
c.1049C>A (p.Pro350Gln)
18g.33743933C>GCA402189944ASXL3c.4088C>G (p.Pro1363Arg)
c.4085C>G (p.Pro1362Arg)
c.3965C>G (p.Pro1322Arg)
c.4061C>G (p.Pro1354Arg)
c.4007C>G (p.Pro1336Arg)
c.3968C>G (p.Pro1323Arg)
c.3917C>G (p.Pro1306Arg)
c.1049C>G (p.Pro350Arg)
18g.33743933C>TCA402189946ASXL3c.4088C>T (p.Pro1363Leu)
c.4085C>T (p.Pro1362Leu)
c.3965C>T (p.Pro1322Leu)
c.4061C>T (p.Pro1354Leu)
c.4007C>T (p.Pro1336Leu)
c.3968C>T (p.Pro1323Leu)
c.3917C>T (p.Pro1306Leu)
c.1049C>T (p.Pro350Leu)
18g.33743934A=CA2294857910ASXL3c.4089A= (p.Pro1363=)
c.4086A= (p.Pro1362=)
c.3966A= (p.Pro1322=)
c.4062A= (p.Pro1354=)
c.4008A= (p.Pro1336=)
c.3969A= (p.Pro1323=)
c.3918A= (p.Pro1306=)
c.1050A= (p.Pro350=)
18g.33743934A>CCA503770622ASXL3c.4089A>C (p.Pro1363=)
c.4086A>C (p.Pro1362=)
c.3966A>C (p.Pro1322=)
c.4062A>C (p.Pro1354=)
c.4008A>C (p.Pro1336=)
c.3969A>C (p.Pro1323=)
c.3918A>C (p.Pro1306=)
c.1050A>C (p.Pro350=)
18g.33743934A>GCA297793339ASXL3c.4089A>G (p.Pro1363=)
c.4086A>G (p.Pro1362=)
c.3966A>G (p.Pro1322=)
c.4062A>G (p.Pro1354=)
c.4008A>G (p.Pro1336=)
c.3969A>G (p.Pro1323=)
c.3918A>G (p.Pro1306=)
c.1050A>G (p.Pro350=)
 dbSNP gnomAD v4
18g.33743934A>TCA503770625ASXL3c.4089A>T (p.Pro1363=)
c.4086A>T (p.Pro1362=)
c.3966A>T (p.Pro1322=)
c.4062A>T (p.Pro1354=)
c.4008A>T (p.Pro1336=)
c.3969A>T (p.Pro1323=)
c.3918A>T (p.Pro1306=)
c.1050A>T (p.Pro350=)
18g.33743935dupCA503770627ASXL3c.4090dup (p.Met1364AsnfsTer4)
c.4087dup (p.Met1363AsnfsTer4)
c.3967dup (p.Met1323AsnfsTer4)
c.4063dup (p.Met1355AsnfsTer4)
c.4009dup (p.Met1337AsnfsTer4)
c.3970dup (p.Met1324AsnfsTer4)
c.3919dup (p.Met1307AsnfsTer4)
c.1051dup (p.Met351AsnfsTer4)
18g.33743934_33743936delinsAATCA2294857911ASXL3c.4089_4091delinsAAT (p.Pro1363=)
c.4086_4088delinsAAT (p.Pro1362=)
c.3966_3968delinsAAT (p.Pro1322=)
c.4062_4064delinsAAT (p.Pro1354=)
c.4008_4010delinsAAT (p.Pro1336=)
c.3969_3971delinsAAT (p.Pro1323=)
c.3918_3920delinsAAT (p.Pro1306=)
c.1050_1052delinsAAT (p.Pro350=)

Number of alleles fetched