Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.32436686T>ACA408564177ASXL1c.3974T>A (p.Leu1325His)
c.3791T>A (p.Leu1264His)
n.6327T>A
c.1870-1744T>A (n.1870-1744T>A)
c.3959T>A (p.Leu1320His)
c.3971T>A (p.Leu1324His)
c.3944T>A (p.Leu1315His)
c.3890T>A (p.Leu1297His)
c.3290T>A (p.Leu1097His)
c.4238T>A (p.Leu1413His)
c.4235T>A (p.Leu1412His)
c.4154T>A (p.Leu1385His)
c.4085T>A (p.Leu1362His)
c.3953T>A (p.Leu1318His)
c.3821T>A (p.Leu1274His)
20g.32436686T>CCA408564178ASXL1c.3974T>C (p.Leu1325Pro)
c.3791T>C (p.Leu1264Pro)
n.6327T>C
c.1870-1744T>C (n.1870-1744T>C)
c.3959T>C (p.Leu1320Pro)
c.3971T>C (p.Leu1324Pro)
c.3944T>C (p.Leu1315Pro)
c.3890T>C (p.Leu1297Pro)
c.3290T>C (p.Leu1097Pro)
c.4238T>C (p.Leu1413Pro)
c.4235T>C (p.Leu1412Pro)
c.4154T>C (p.Leu1385Pro)
c.4085T>C (p.Leu1362Pro)
c.3953T>C (p.Leu1318Pro)
c.3821T>C (p.Leu1274Pro)
20g.32436686T>GCA408564179ASXL1c.3974T>G (p.Leu1325Arg)
c.3791T>G (p.Leu1264Arg)
n.6327T>G
c.1870-1744T>G (n.1870-1744T>G)
c.3959T>G (p.Leu1320Arg)
c.3971T>G (p.Leu1324Arg)
c.3944T>G (p.Leu1315Arg)
c.3890T>G (p.Leu1297Arg)
c.3290T>G (p.Leu1097Arg)
c.4238T>G (p.Leu1413Arg)
c.4235T>G (p.Leu1412Arg)
c.4154T>G (p.Leu1385Arg)
c.4085T>G (p.Leu1362Arg)
c.3953T>G (p.Leu1318Arg)
c.3821T>G (p.Leu1274Arg)
20g.32436687T>ACA510467535ASXL1c.3975T>A (p.Leu1325=)
c.3792T>A (p.Leu1264=)
n.6328T>A
c.1870-1743T>A (n.1870-1743T>A)
c.3960T>A (p.Leu1320=)
c.3972T>A (p.Leu1324=)
c.3945T>A (p.Leu1315=)
c.3891T>A (p.Leu1297=)
c.3291T>A (p.Leu1097=)
c.4239T>A (p.Leu1413=)
c.4236T>A (p.Leu1412=)
c.4155T>A (p.Leu1385=)
c.4086T>A (p.Leu1362=)
c.3954T>A (p.Leu1318=)
c.3822T>A (p.Leu1274=)
20g.32436687T>CCA510467536ASXL1c.3975T>C (p.Leu1325=)
c.3792T>C (p.Leu1264=)
n.6328T>C
c.1870-1743T>C (n.1870-1743T>C)
c.3960T>C (p.Leu1320=)
c.3972T>C (p.Leu1324=)
c.3945T>C (p.Leu1315=)
c.3891T>C (p.Leu1297=)
c.3291T>C (p.Leu1097=)
c.4239T>C (p.Leu1413=)
c.4236T>C (p.Leu1412=)
c.4155T>C (p.Leu1385=)
c.4086T>C (p.Leu1362=)
c.3954T>C (p.Leu1318=)
c.3822T>C (p.Leu1274=)
 gnomAD v4
20g.32436687T>GCA510467537ASXL1c.3975T>G (p.Leu1325=)
c.3792T>G (p.Leu1264=)
n.6328T>G
c.1870-1743T>G (n.1870-1743T>G)
c.3960T>G (p.Leu1320=)
c.3972T>G (p.Leu1324=)
c.3945T>G (p.Leu1315=)
c.3891T>G (p.Leu1297=)
c.3291T>G (p.Leu1097=)
c.4239T>G (p.Leu1413=)
c.4236T>G (p.Leu1412=)
c.4155T>G (p.Leu1385=)
c.4086T>G (p.Leu1362=)
c.3954T>G (p.Leu1318=)
c.3822T>G (p.Leu1274=)
20g.32436688C>ACA408564180ASXL1c.3976C>A (p.Pro1326Thr)
c.3793C>A (p.Pro1265Thr)
n.6329C>A
c.1870-1742C>A (n.1870-1742C>A)
c.3961C>A (p.Pro1321Thr)
c.3973C>A (p.Pro1325Thr)
c.3946C>A (p.Pro1316Thr)
c.3892C>A (p.Pro1298Thr)
c.3292C>A (p.Pro1098Thr)
c.4240C>A (p.Pro1414Thr)
c.4237C>A (p.Pro1413Thr)
c.4156C>A (p.Pro1386Thr)
c.4087C>A (p.Pro1363Thr)
c.3955C>A (p.Pro1319Thr)
c.3823C>A (p.Pro1275Thr)
20g.32436688C>GCA408564181ASXL1c.3976C>G (p.Pro1326Ala)
c.3793C>G (p.Pro1265Ala)
n.6329C>G
c.1870-1742C>G (n.1870-1742C>G)
c.3961C>G (p.Pro1321Ala)
c.3973C>G (p.Pro1325Ala)
c.3946C>G (p.Pro1316Ala)
c.3892C>G (p.Pro1298Ala)
c.3292C>G (p.Pro1098Ala)
c.4240C>G (p.Pro1414Ala)
c.4237C>G (p.Pro1413Ala)
c.4156C>G (p.Pro1386Ala)
c.4087C>G (p.Pro1363Ala)
c.3955C>G (p.Pro1319Ala)
c.3823C>G (p.Pro1275Ala)
20g.32436688C>TCA408564182ASXL1c.3976C>T (p.Pro1326Ser)
c.3793C>T (p.Pro1265Ser)
n.6329C>T
c.1870-1742C>T (n.1870-1742C>T)
c.3961C>T (p.Pro1321Ser)
c.3973C>T (p.Pro1325Ser)
c.3946C>T (p.Pro1316Ser)
c.3892C>T (p.Pro1298Ser)
c.3292C>T (p.Pro1098Ser)
c.4240C>T (p.Pro1414Ser)
c.4237C>T (p.Pro1413Ser)
c.4156C>T (p.Pro1386Ser)
c.4087C>T (p.Pro1363Ser)
c.3955C>T (p.Pro1319Ser)
c.3823C>T (p.Pro1275Ser)
20g.32436689C>ACA408564183ASXL1c.3977C>A (p.Pro1326His)
c.3794C>A (p.Pro1265His)
n.6330C>A
c.1870-1741C>A (n.1870-1741C>A)
c.3962C>A (p.Pro1321His)
c.3974C>A (p.Pro1325His)
c.3947C>A (p.Pro1316His)
c.3893C>A (p.Pro1298His)
c.3293C>A (p.Pro1098His)
c.4241C>A (p.Pro1414His)
c.4238C>A (p.Pro1413His)
c.4157C>A (p.Pro1386His)
c.4088C>A (p.Pro1363His)
c.3956C>A (p.Pro1319His)
c.3824C>A (p.Pro1275His)
20g.32436689C=CA2360293819ASXL1c.3977C= (p.Pro1326=)
c.3794C= (p.Pro1265=)
n.6330C=
c.1870-1741C= (n.1870-1741C=)
c.3962C= (p.Pro1321=)
c.3974C= (p.Pro1325=)
c.3947C= (p.Pro1316=)
c.3893C= (p.Pro1298=)
c.3293C= (p.Pro1098=)
c.4241C= (p.Pro1414=)
c.4238C= (p.Pro1413=)
c.4157C= (p.Pro1386=)
c.4088C= (p.Pro1363=)
c.3956C= (p.Pro1319=)
c.3824C= (p.Pro1275=)
20g.32436689C>GCA9808938ASXL1c.3977C>G (p.Pro1326Arg)
c.3794C>G (p.Pro1265Arg)
n.6330C>G
c.1870-1741C>G (n.1870-1741C>G)
c.3962C>G (p.Pro1321Arg)
c.3974C>G (p.Pro1325Arg)
c.3947C>G (p.Pro1316Arg)
c.3893C>G (p.Pro1298Arg)
c.3293C>G (p.Pro1098Arg)
c.4241C>G (p.Pro1414Arg)
c.4238C>G (p.Pro1413Arg)
c.4157C>G (p.Pro1386Arg)
c.4088C>G (p.Pro1363Arg)
c.3956C>G (p.Pro1319Arg)
c.3824C>G (p.Pro1275Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436689C>TCA9808939ASXL1c.3977C>T (p.Pro1326Leu)
c.3794C>T (p.Pro1265Leu)
n.6330C>T
c.1870-1741C>T (n.1870-1741C>T)
c.3962C>T (p.Pro1321Leu)
c.3974C>T (p.Pro1325Leu)
c.3947C>T (p.Pro1316Leu)
c.3893C>T (p.Pro1298Leu)
c.3293C>T (p.Pro1098Leu)
c.4241C>T (p.Pro1414Leu)
c.4238C>T (p.Pro1413Leu)
c.4157C>T (p.Pro1386Leu)
c.4088C>T (p.Pro1363Leu)
c.3956C>T (p.Pro1319Leu)
c.3824C>T (p.Pro1275Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436690T>ACA510467538ASXL1c.3978T>A (p.Pro1326=)
c.3795T>A (p.Pro1265=)
n.6331T>A
c.1870-1740T>A (n.1870-1740T>A)
c.3963T>A (p.Pro1321=)
c.3975T>A (p.Pro1325=)
c.3948T>A (p.Pro1316=)
c.3894T>A (p.Pro1298=)
c.3294T>A (p.Pro1098=)
c.4242T>A (p.Pro1414=)
c.4239T>A (p.Pro1413=)
c.4158T>A (p.Pro1386=)
c.4089T>A (p.Pro1363=)
c.3957T>A (p.Pro1319=)
c.3825T>A (p.Pro1275=)
20g.32436690T>CCA510467539ASXL1c.3978T>C (p.Pro1326=)
c.3795T>C (p.Pro1265=)
n.6331T>C
c.1870-1740T>C (n.1870-1740T>C)
c.3963T>C (p.Pro1321=)
c.3975T>C (p.Pro1325=)
c.3948T>C (p.Pro1316=)
c.3894T>C (p.Pro1298=)
c.3294T>C (p.Pro1098=)
c.4242T>C (p.Pro1414=)
c.4239T>C (p.Pro1413=)
c.4158T>C (p.Pro1386=)
c.4089T>C (p.Pro1363=)
c.3957T>C (p.Pro1319=)
c.3825T>C (p.Pro1275=)
 ClinVar
20g.32436690T>GCA510467540ASXL1c.3978T>G (p.Pro1326=)
c.3795T>G (p.Pro1265=)
n.6331T>G
c.1870-1740T>G (n.1870-1740T>G)
c.3963T>G (p.Pro1321=)
c.3975T>G (p.Pro1325=)
c.3948T>G (p.Pro1316=)
c.3894T>G (p.Pro1298=)
c.3294T>G (p.Pro1098=)
c.4242T>G (p.Pro1414=)
c.4239T>G (p.Pro1413=)
c.4158T>G (p.Pro1386=)
c.4089T>G (p.Pro1363=)
c.3957T>G (p.Pro1319=)
c.3825T>G (p.Pro1275=)
20g.32436691G>ACA408564185ASXL1c.3979G>A (p.Ala1327Thr)
c.3796G>A (p.Ala1266Thr)
n.6332G>A
c.1870-1739G>A (n.1870-1739G>A)
c.3964G>A (p.Ala1322Thr)
c.3976G>A (p.Ala1326Thr)
c.3949G>A (p.Ala1317Thr)
c.3895G>A (p.Ala1299Thr)
c.3295G>A (p.Ala1099Thr)
c.4243G>A (p.Ala1415Thr)
c.4240G>A (p.Ala1414Thr)
c.4159G>A (p.Ala1387Thr)
c.4090G>A (p.Ala1364Thr)
c.3958G>A (p.Ala1320Thr)
c.3826G>A (p.Ala1276Thr)
 dbSNP
20g.32436691G>CCA408564186ASXL1c.3979G>C (p.Ala1327Pro)
c.3796G>C (p.Ala1266Pro)
n.6332G>C
c.1870-1739G>C (n.1870-1739G>C)
c.3964G>C (p.Ala1322Pro)
c.3976G>C (p.Ala1326Pro)
c.3949G>C (p.Ala1317Pro)
c.3895G>C (p.Ala1299Pro)
c.3295G>C (p.Ala1099Pro)
c.4243G>C (p.Ala1415Pro)
c.4240G>C (p.Ala1414Pro)
c.4159G>C (p.Ala1387Pro)
c.4090G>C (p.Ala1364Pro)
c.3958G>C (p.Ala1320Pro)
c.3826G>C (p.Ala1276Pro)
 dbSNP
20g.32436691G>TCA408564184ASXL1c.3979G>T (p.Ala1327Ser)
c.3796G>T (p.Ala1266Ser)
n.6332G>T
c.1870-1739G>T (n.1870-1739G>T)
c.3964G>T (p.Ala1322Ser)
c.3976G>T (p.Ala1326Ser)
c.3949G>T (p.Ala1317Ser)
c.3895G>T (p.Ala1299Ser)
c.3295G>T (p.Ala1099Ser)
c.4243G>T (p.Ala1415Ser)
c.4240G>T (p.Ala1414Ser)
c.4159G>T (p.Ala1387Ser)
c.4090G>T (p.Ala1364Ser)
c.3958G>T (p.Ala1320Ser)
c.3826G>T (p.Ala1276Ser)
20g.32436692C>ACA408564188ASXL1c.3980C>A (p.Ala1327Asp)
c.3797C>A (p.Ala1266Asp)
n.6333C>A
c.1870-1738C>A (n.1870-1738C>A)
c.3965C>A (p.Ala1322Asp)
c.3977C>A (p.Ala1326Asp)
c.3950C>A (p.Ala1317Asp)
c.3896C>A (p.Ala1299Asp)
c.3296C>A (p.Ala1099Asp)
c.4244C>A (p.Ala1415Asp)
c.4241C>A (p.Ala1414Asp)
c.4160C>A (p.Ala1387Asp)
c.4091C>A (p.Ala1364Asp)
c.3959C>A (p.Ala1320Asp)
c.3827C>A (p.Ala1276Asp)
 dbSNP
20g.32436692C=CA2360293820ASXL1c.3980C= (p.Ala1327=)
c.3797C= (p.Ala1266=)
n.6333C=
c.1870-1738C= (n.1870-1738C=)
c.3965C= (p.Ala1322=)
c.3977C= (p.Ala1326=)
c.3950C= (p.Ala1317=)
c.3896C= (p.Ala1299=)
c.3296C= (p.Ala1099=)
c.4244C= (p.Ala1415=)
c.4241C= (p.Ala1414=)
c.4160C= (p.Ala1387=)
c.4091C= (p.Ala1364=)
c.3959C= (p.Ala1320=)
c.3827C= (p.Ala1276=)
20g.32436692C>GCA408564187ASXL1c.3980C>G (p.Ala1327Gly)
c.3797C>G (p.Ala1266Gly)
n.6333C>G
c.1870-1738C>G (n.1870-1738C>G)
c.3965C>G (p.Ala1322Gly)
c.3977C>G (p.Ala1326Gly)
c.3950C>G (p.Ala1317Gly)
c.3896C>G (p.Ala1299Gly)
c.3296C>G (p.Ala1099Gly)
c.4244C>G (p.Ala1415Gly)
c.4241C>G (p.Ala1414Gly)
c.4160C>G (p.Ala1387Gly)
c.4091C>G (p.Ala1364Gly)
c.3959C>G (p.Ala1320Gly)
c.3827C>G (p.Ala1276Gly)
20g.32436692C>TCA408564189ASXL1c.3980C>T (p.Ala1327Val)
c.3797C>T (p.Ala1266Val)
n.6333C>T
c.1870-1738C>T (n.1870-1738C>T)
c.3965C>T (p.Ala1322Val)
c.3977C>T (p.Ala1326Val)
c.3950C>T (p.Ala1317Val)
c.3896C>T (p.Ala1299Val)
c.3296C>T (p.Ala1099Val)
c.4244C>T (p.Ala1415Val)
c.4241C>T (p.Ala1414Val)
c.4160C>T (p.Ala1387Val)
c.4091C>T (p.Ala1364Val)
c.3959C>T (p.Ala1320Val)
c.3827C>T (p.Ala1276Val)
 dbSNP gnomAD v3 gnomAD v4
20g.32436693T>ACA510467543ASXL1c.3981T>A (p.Ala1327=)
c.3798T>A (p.Ala1266=)
n.6334T>A
c.1870-1737T>A (n.1870-1737T>A)
c.3966T>A (p.Ala1322=)
c.3978T>A (p.Ala1326=)
c.3951T>A (p.Ala1317=)
c.3897T>A (p.Ala1299=)
c.3297T>A (p.Ala1099=)
c.4245T>A (p.Ala1415=)
c.4242T>A (p.Ala1414=)
c.4161T>A (p.Ala1387=)
c.4092T>A (p.Ala1364=)
c.3960T>A (p.Ala1320=)
c.3828T>A (p.Ala1276=)
20g.32436693T>CCA510467544ASXL1c.3981T>C (p.Ala1327=)
c.3798T>C (p.Ala1266=)
n.6334T>C
c.1870-1737T>C (n.1870-1737T>C)
c.3966T>C (p.Ala1322=)
c.3978T>C (p.Ala1326=)
c.3951T>C (p.Ala1317=)
c.3897T>C (p.Ala1299=)
c.3297T>C (p.Ala1099=)
c.4245T>C (p.Ala1415=)
c.4242T>C (p.Ala1414=)
c.4161T>C (p.Ala1387=)
c.4092T>C (p.Ala1364=)
c.3960T>C (p.Ala1320=)
c.3828T>C (p.Ala1276=)
 gnomAD v4
20g.32436693T>GCA9808940ASXL1c.3981T>G (p.Ala1327=)
c.3798T>G (p.Ala1266=)
n.6334T>G
c.1870-1737T>G (n.1870-1737T>G)
c.3966T>G (p.Ala1322=)
c.3978T>G (p.Ala1326=)
c.3951T>G (p.Ala1317=)
c.3897T>G (p.Ala1299=)
c.3297T>G (p.Ala1099=)
c.4245T>G (p.Ala1415=)
c.4242T>G (p.Ala1414=)
c.4161T>G (p.Ala1387=)
c.4092T>G (p.Ala1364=)
c.3960T>G (p.Ala1320=)
c.3828T>G (p.Ala1276=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436693T=CA2360293821ASXL1c.3981T= (p.Ala1327=)
c.3798T= (p.Ala1266=)
n.6334T=
c.1870-1737T= (n.1870-1737T=)
c.3966T= (p.Ala1322=)
c.3978T= (p.Ala1326=)
c.3951T= (p.Ala1317=)
c.3897T= (p.Ala1299=)
c.3297T= (p.Ala1099=)
c.4245T= (p.Ala1415=)
c.4242T= (p.Ala1414=)
c.4161T= (p.Ala1387=)
c.4092T= (p.Ala1364=)
c.3960T= (p.Ala1320=)
c.3828T= (p.Ala1276=)
20g.32436694G>ACA408564190ASXL1c.3982G>A (p.Glu1328Lys)
c.3799G>A (p.Glu1267Lys)
n.6335G>A
c.1870-1736G>A (n.1870-1736G>A)
c.3967G>A (p.Glu1323Lys)
c.3979G>A (p.Glu1327Lys)
c.3952G>A (p.Glu1318Lys)
c.3898G>A (p.Glu1300Lys)
c.3298G>A (p.Glu1100Lys)
c.4246G>A (p.Glu1416Lys)
c.4243G>A (p.Glu1415Lys)
c.4162G>A (p.Glu1388Lys)
c.4093G>A (p.Glu1365Lys)
c.3961G>A (p.Glu1321Lys)
c.3829G>A (p.Glu1277Lys)
20g.32436694G>CCA408564191ASXL1c.3982G>C (p.Glu1328Gln)
c.3799G>C (p.Glu1267Gln)
n.6335G>C
c.1870-1736G>C (n.1870-1736G>C)
c.3967G>C (p.Glu1323Gln)
c.3979G>C (p.Glu1327Gln)
c.3952G>C (p.Glu1318Gln)
c.3898G>C (p.Glu1300Gln)
c.3298G>C (p.Glu1100Gln)
c.4246G>C (p.Glu1416Gln)
c.4243G>C (p.Glu1415Gln)
c.4162G>C (p.Glu1388Gln)
c.4093G>C (p.Glu1365Gln)
c.3961G>C (p.Glu1321Gln)
c.3829G>C (p.Glu1277Gln)
20g.32436694G>TCA408564192ASXL1c.3982G>T (p.Glu1328Ter)
c.3799G>T (p.Glu1267Ter)
n.6335G>T
c.1870-1736G>T (n.1870-1736G>T)
c.3967G>T (p.Glu1323Ter)
c.3979G>T (p.Glu1327Ter)
c.3952G>T (p.Glu1318Ter)
c.3898G>T (p.Glu1300Ter)
c.3298G>T (p.Glu1100Ter)
c.4246G>T (p.Glu1416Ter)
c.4243G>T (p.Glu1415Ter)
c.4162G>T (p.Glu1388Ter)
c.4093G>T (p.Glu1365Ter)
c.3961G>T (p.Glu1321Ter)
c.3829G>T (p.Glu1277Ter)
20g.32436695A>CCA408564193ASXL1c.3983A>C (p.Glu1328Ala)
c.3800A>C (p.Glu1267Ala)
n.6336A>C
c.1870-1735A>C (n.1870-1735A>C)
c.3968A>C (p.Glu1323Ala)
c.3980A>C (p.Glu1327Ala)
c.3953A>C (p.Glu1318Ala)
c.3899A>C (p.Glu1300Ala)
c.3299A>C (p.Glu1100Ala)
c.4247A>C (p.Glu1416Ala)
c.4244A>C (p.Glu1415Ala)
c.4163A>C (p.Glu1388Ala)
c.4094A>C (p.Glu1365Ala)
c.3962A>C (p.Glu1321Ala)
c.3830A>C (p.Glu1277Ala)
20g.32436695A>GCA408564194ASXL1c.3983A>G (p.Glu1328Gly)
c.3800A>G (p.Glu1267Gly)
n.6336A>G
c.1870-1735A>G (n.1870-1735A>G)
c.3968A>G (p.Glu1323Gly)
c.3980A>G (p.Glu1327Gly)
c.3953A>G (p.Glu1318Gly)
c.3899A>G (p.Glu1300Gly)
c.3299A>G (p.Glu1100Gly)
c.4247A>G (p.Glu1416Gly)
c.4244A>G (p.Glu1415Gly)
c.4163A>G (p.Glu1388Gly)
c.4094A>G (p.Glu1365Gly)
c.3962A>G (p.Glu1321Gly)
c.3830A>G (p.Glu1277Gly)
 dbSNP
20g.32436695A>TCA408564195ASXL1c.3983A>T (p.Glu1328Val)
c.3800A>T (p.Glu1267Val)
n.6336A>T
c.1870-1735A>T (n.1870-1735A>T)
c.3968A>T (p.Glu1323Val)
c.3980A>T (p.Glu1327Val)
c.3953A>T (p.Glu1318Val)
c.3899A>T (p.Glu1300Val)
c.3299A>T (p.Glu1100Val)
c.4247A>T (p.Glu1416Val)
c.4244A>T (p.Glu1415Val)
c.4163A>T (p.Glu1388Val)
c.4094A>T (p.Glu1365Val)
c.3962A>T (p.Glu1321Val)
c.3830A>T (p.Glu1277Val)
 dbSNP
20g.32436696G>ACA510467548ASXL1c.3984G>A (p.Glu1328=)
c.3801G>A (p.Glu1267=)
n.6337G>A
c.1870-1734G>A (n.1870-1734G>A)
c.3969G>A (p.Glu1323=)
c.3981G>A (p.Glu1327=)
c.3954G>A (p.Glu1318=)
c.3900G>A (p.Glu1300=)
c.3300G>A (p.Glu1100=)
c.4248G>A (p.Glu1416=)
c.4245G>A (p.Glu1415=)
c.4164G>A (p.Glu1388=)
c.4095G>A (p.Glu1365=)
c.3963G>A (p.Glu1321=)
c.3831G>A (p.Glu1277=)
 gnomAD v2
20g.32436696G>CCA408564196ASXL1c.3984G>C (p.Glu1328Asp)
c.3801G>C (p.Glu1267Asp)
n.6337G>C
c.1870-1734G>C (n.1870-1734G>C)
c.3969G>C (p.Glu1323Asp)
c.3981G>C (p.Glu1327Asp)
c.3954G>C (p.Glu1318Asp)
c.3900G>C (p.Glu1300Asp)
c.3300G>C (p.Glu1100Asp)
c.4248G>C (p.Glu1416Asp)
c.4245G>C (p.Glu1415Asp)
c.4164G>C (p.Glu1388Asp)
c.4095G>C (p.Glu1365Asp)
c.3963G>C (p.Glu1321Asp)
c.3831G>C (p.Glu1277Asp)
20g.32436696G>TCA408564197ASXL1c.3984G>T (p.Glu1328Asp)
c.3801G>T (p.Glu1267Asp)
n.6337G>T
c.1870-1734G>T (n.1870-1734G>T)
c.3969G>T (p.Glu1323Asp)
c.3981G>T (p.Glu1327Asp)
c.3954G>T (p.Glu1318Asp)
c.3900G>T (p.Glu1300Asp)
c.3300G>T (p.Glu1100Asp)
c.4248G>T (p.Glu1416Asp)
c.4245G>T (p.Glu1415Asp)
c.4164G>T (p.Glu1388Asp)
c.4095G>T (p.Glu1365Asp)
c.3963G>T (p.Glu1321Asp)
c.3831G>T (p.Glu1277Asp)
20g.32436696_32436697delinsGACA2360293822ASXL1c.3984_3985delinsGA (p.Glu1328=)
c.3801_3802delinsGA (p.Glu1267=)
n.6337_6338delinsGA
c.1870-1734_1870-1733delinsGA (n.1870-1734_1870-1733delinsGA)
c.3969_3970delinsGA (p.Glu1323=)
c.3981_3982delinsGA (p.Glu1327=)
c.3954_3955delinsGA (p.Glu1318=)
c.3900_3901delinsGA (p.Glu1300=)
c.3300_3301delinsGA (p.Glu1100=)
c.4248_4249delinsGA (p.Glu1416=)
c.4245_4246delinsGA (p.Glu1415=)
c.4164_4165delinsGA (p.Glu1388=)
c.4095_4096delinsGA (p.Glu1365=)
c.3963_3964delinsGA (p.Glu1321=)
c.3831_3832delinsGA (p.Glu1277=)
20g.32436697delCA9808941ASXL1c.3985del (p.Ile1329SerfsTer?)
c.3802del (p.Ile1268SerfsTer?)
n.6338del
c.1870-1733del (n.1870-1733del)
c.3970del (p.Ile1324SerfsTer?)
c.3982del (p.Ile1328SerfsTer?)
c.3955del (p.Ile1319SerfsTer?)
c.3901del (p.Ile1301SerfsTer?)
c.3301del (p.Ile1101SerfsTer?)
c.4249del (p.Ile1417SerfsTer?)
c.4246del (p.Ile1416SerfsTer?)
c.4165del (p.Ile1389SerfsTer?)
c.4096del (p.Ile1366SerfsTer?)
c.3964del (p.Ile1322SerfsTer?)
c.3832del (p.Ile1278SerfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436697A=CA2360293823ASXL1c.3985A= (p.Ile1329=)
c.3802A= (p.Ile1268=)
n.6338A=
c.1870-1733A= (n.1870-1733A=)
c.3970A= (p.Ile1324=)
c.3982A= (p.Ile1328=)
c.3955A= (p.Ile1319=)
c.3901A= (p.Ile1301=)
c.3301A= (p.Ile1101=)
c.4249A= (p.Ile1417=)
c.4246A= (p.Ile1416=)
c.4165A= (p.Ile1389=)
c.4096A= (p.Ile1366=)
c.3964A= (p.Ile1322=)
c.3832A= (p.Ile1278=)
20g.32436697A>CCA408564198ASXL1c.3985A>C (p.Ile1329Leu)
c.3802A>C (p.Ile1268Leu)
n.6338A>C
c.1870-1733A>C (n.1870-1733A>C)
c.3970A>C (p.Ile1324Leu)
c.3982A>C (p.Ile1328Leu)
c.3955A>C (p.Ile1319Leu)
c.3901A>C (p.Ile1301Leu)
c.3301A>C (p.Ile1101Leu)
c.4249A>C (p.Ile1417Leu)
c.4246A>C (p.Ile1416Leu)
c.4165A>C (p.Ile1389Leu)
c.4096A>C (p.Ile1366Leu)
c.3964A>C (p.Ile1322Leu)
c.3832A>C (p.Ile1278Leu)
20g.32436697A>GCA408564199ASXL1c.3985A>G (p.Ile1329Val)
c.3802A>G (p.Ile1268Val)
n.6338A>G
c.1870-1733A>G (n.1870-1733A>G)
c.3970A>G (p.Ile1324Val)
c.3982A>G (p.Ile1328Val)
c.3955A>G (p.Ile1319Val)
c.3901A>G (p.Ile1301Val)
c.3301A>G (p.Ile1101Val)
c.4249A>G (p.Ile1417Val)
c.4246A>G (p.Ile1416Val)
c.4165A>G (p.Ile1389Val)
c.4096A>G (p.Ile1366Val)
c.3964A>G (p.Ile1322Val)
c.3832A>G (p.Ile1278Val)
20g.32436697A>TCA408564200ASXL1c.3985A>T (p.Ile1329Phe)
c.3802A>T (p.Ile1268Phe)
n.6338A>T
c.1870-1733A>T (n.1870-1733A>T)
c.3970A>T (p.Ile1324Phe)
c.3982A>T (p.Ile1328Phe)
c.3955A>T (p.Ile1319Phe)
c.3901A>T (p.Ile1301Phe)
c.3301A>T (p.Ile1101Phe)
c.4249A>T (p.Ile1417Phe)
c.4246A>T (p.Ile1416Phe)
c.4165A>T (p.Ile1389Phe)
c.4096A>T (p.Ile1366Phe)
c.3964A>T (p.Ile1322Phe)
c.3832A>T (p.Ile1278Phe)
 dbSNP gnomAD v2 gnomAD v4
20g.32436698T>ACA408564201ASXL1c.3986T>A (p.Ile1329Asn)
c.3803T>A (p.Ile1268Asn)
n.6339T>A
c.1870-1732T>A (n.1870-1732T>A)
c.3971T>A (p.Ile1324Asn)
c.3983T>A (p.Ile1328Asn)
c.3956T>A (p.Ile1319Asn)
c.3902T>A (p.Ile1301Asn)
c.3302T>A (p.Ile1101Asn)
c.4250T>A (p.Ile1417Asn)
c.4247T>A (p.Ile1416Asn)
c.4166T>A (p.Ile1389Asn)
c.4097T>A (p.Ile1366Asn)
c.3965T>A (p.Ile1322Asn)
c.3833T>A (p.Ile1278Asn)
20g.32436698T>CCA408564202ASXL1c.3986T>C (p.Ile1329Thr)
c.3803T>C (p.Ile1268Thr)
n.6339T>C
c.1870-1732T>C (n.1870-1732T>C)
c.3971T>C (p.Ile1324Thr)
c.3983T>C (p.Ile1328Thr)
c.3956T>C (p.Ile1319Thr)
c.3902T>C (p.Ile1301Thr)
c.3302T>C (p.Ile1101Thr)
c.4250T>C (p.Ile1417Thr)
c.4247T>C (p.Ile1416Thr)
c.4166T>C (p.Ile1389Thr)
c.4097T>C (p.Ile1366Thr)
c.3965T>C (p.Ile1322Thr)
c.3833T>C (p.Ile1278Thr)
20g.32436698T>GCA408564203ASXL1c.3986T>G (p.Ile1329Ser)
c.3803T>G (p.Ile1268Ser)
n.6339T>G
c.1870-1732T>G (n.1870-1732T>G)
c.3971T>G (p.Ile1324Ser)
c.3983T>G (p.Ile1328Ser)
c.3956T>G (p.Ile1319Ser)
c.3902T>G (p.Ile1301Ser)
c.3302T>G (p.Ile1101Ser)
c.4250T>G (p.Ile1417Ser)
c.4247T>G (p.Ile1416Ser)
c.4166T>G (p.Ile1389Ser)
c.4097T>G (p.Ile1366Ser)
c.3965T>G (p.Ile1322Ser)
c.3833T>G (p.Ile1278Ser)
20g.32436699C>ACA510467550ASXL1c.3987C>A (p.Ile1329=)
c.3804C>A (p.Ile1268=)
n.6340C>A
c.1870-1731C>A (n.1870-1731C>A)
c.3972C>A (p.Ile1324=)
c.3984C>A (p.Ile1328=)
c.3957C>A (p.Ile1319=)
c.3903C>A (p.Ile1301=)
c.3303C>A (p.Ile1101=)
c.4251C>A (p.Ile1417=)
c.4248C>A (p.Ile1416=)
c.4167C>A (p.Ile1389=)
c.4098C>A (p.Ile1366=)
c.3966C>A (p.Ile1322=)
c.3834C>A (p.Ile1278=)
20g.32436699C=CA2360293824ASXL1c.3987C= (p.Ile1329=)
c.3804C= (p.Ile1268=)
n.6340C=
c.1870-1731C= (n.1870-1731C=)
c.3972C= (p.Ile1324=)
c.3984C= (p.Ile1328=)
c.3957C= (p.Ile1319=)
c.3903C= (p.Ile1301=)
c.3303C= (p.Ile1101=)
c.4251C= (p.Ile1417=)
c.4248C= (p.Ile1416=)
c.4167C= (p.Ile1389=)
c.4098C= (p.Ile1366=)
c.3966C= (p.Ile1322=)
c.3834C= (p.Ile1278=)
20g.32436699C>GCA313926370ASXL1c.3987C>G (p.Ile1329Met)
c.3804C>G (p.Ile1268Met)
n.6340C>G
c.1870-1731C>G (n.1870-1731C>G)
c.3972C>G (p.Ile1324Met)
c.3984C>G (p.Ile1328Met)
c.3957C>G (p.Ile1319Met)
c.3903C>G (p.Ile1301Met)
c.3303C>G (p.Ile1101Met)
c.4251C>G (p.Ile1417Met)
c.4248C>G (p.Ile1416Met)
c.4167C>G (p.Ile1389Met)
c.4098C>G (p.Ile1366Met)
c.3966C>G (p.Ile1322Met)
c.3834C>G (p.Ile1278Met)
 dbSNP gnomAD v4
20g.32436699C>TCA510467551ASXL1c.3987C>T (p.Ile1329=)
c.3804C>T (p.Ile1268=)
n.6340C>T
c.1870-1731C>T (n.1870-1731C>T)
c.3972C>T (p.Ile1324=)
c.3984C>T (p.Ile1328=)
c.3957C>T (p.Ile1319=)
c.3903C>T (p.Ile1301=)
c.3303C>T (p.Ile1101=)
c.4251C>T (p.Ile1417=)
c.4248C>T (p.Ile1416=)
c.4167C>T (p.Ile1389=)
c.4098C>T (p.Ile1366=)
c.3966C>T (p.Ile1322=)
c.3834C>T (p.Ile1278=)
20g.32436699_32436700insACA9808942ASXL1c.3987_3988insA (p.Pro1330ThrfsTer?)
c.3804_3805insA (p.Pro1269ThrfsTer?)
n.6340_6341insA
c.1870-1731_1870-1730insA (n.1870-1731_1870-1730insA)
c.3972_3973insA (p.Pro1325ThrfsTer?)
c.3984_3985insA (p.Pro1329ThrfsTer?)
c.3957_3958insA (p.Pro1320ThrfsTer?)
c.3903_3904insA (p.Pro1302ThrfsTer?)
c.3303_3304insA (p.Pro1102ThrfsTer?)
c.4251_4252insA (p.Pro1418ThrfsTer?)
c.4248_4249insA (p.Pro1417ThrfsTer?)
c.4167_4168insA (p.Pro1390ThrfsTer?)
c.4098_4099insA (p.Pro1367ThrfsTer?)
c.3966_3967insA (p.Pro1323ThrfsTer?)
c.3834_3835insA (p.Pro1279ThrfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436700C>ACA408564204ASXL1c.3988C>A (p.Pro1330Thr)
c.3805C>A (p.Pro1269Thr)
n.6341C>A
c.1870-1730C>A (n.1870-1730C>A)
c.3973C>A (p.Pro1325Thr)
c.3985C>A (p.Pro1329Thr)
c.3958C>A (p.Pro1320Thr)
c.3904C>A (p.Pro1302Thr)
c.3304C>A (p.Pro1102Thr)
c.4252C>A (p.Pro1418Thr)
c.4249C>A (p.Pro1417Thr)
c.4168C>A (p.Pro1390Thr)
c.4099C>A (p.Pro1367Thr)
c.3967C>A (p.Pro1323Thr)
c.3835C>A (p.Pro1279Thr)
20g.32436700C=CA2360293825ASXL1c.3988C= (p.Pro1330=)
c.3805C= (p.Pro1269=)
n.6341C=
c.1870-1730C= (n.1870-1730C=)
c.3973C= (p.Pro1325=)
c.3985C= (p.Pro1329=)
c.3958C= (p.Pro1320=)
c.3904C= (p.Pro1302=)
c.3304C= (p.Pro1102=)
c.4252C= (p.Pro1418=)
c.4249C= (p.Pro1417=)
c.4168C= (p.Pro1390=)
c.4099C= (p.Pro1367=)
c.3967C= (p.Pro1323=)
c.3835C= (p.Pro1279=)
20g.32436700C>GCA408564205ASXL1c.3988C>G (p.Pro1330Ala)
c.3805C>G (p.Pro1269Ala)
n.6341C>G
c.1870-1730C>G (n.1870-1730C>G)
c.3973C>G (p.Pro1325Ala)
c.3985C>G (p.Pro1329Ala)
c.3958C>G (p.Pro1320Ala)
c.3904C>G (p.Pro1302Ala)
c.3304C>G (p.Pro1102Ala)
c.4252C>G (p.Pro1418Ala)
c.4249C>G (p.Pro1417Ala)
c.4168C>G (p.Pro1390Ala)
c.4099C>G (p.Pro1367Ala)
c.3967C>G (p.Pro1323Ala)
c.3835C>G (p.Pro1279Ala)
20g.32436700C>TCA408564206ASXL1c.3988C>T (p.Pro1330Ser)
c.3805C>T (p.Pro1269Ser)
n.6341C>T
c.1870-1730C>T (n.1870-1730C>T)
c.3973C>T (p.Pro1325Ser)
c.3985C>T (p.Pro1329Ser)
c.3958C>T (p.Pro1320Ser)
c.3904C>T (p.Pro1302Ser)
c.3304C>T (p.Pro1102Ser)
c.4252C>T (p.Pro1418Ser)
c.4249C>T (p.Pro1417Ser)
c.4168C>T (p.Pro1390Ser)
c.4099C>T (p.Pro1367Ser)
c.3967C>T (p.Pro1323Ser)
c.3835C>T (p.Pro1279Ser)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32436701C>ACA408564207ASXL1c.3989C>A (p.Pro1330His)
c.3806C>A (p.Pro1269His)
n.6342C>A
c.1870-1729C>A (n.1870-1729C>A)
c.3974C>A (p.Pro1325His)
c.3986C>A (p.Pro1329His)
c.3959C>A (p.Pro1320His)
c.3905C>A (p.Pro1302His)
c.3305C>A (p.Pro1102His)
c.4253C>A (p.Pro1418His)
c.4250C>A (p.Pro1417His)
c.4169C>A (p.Pro1390His)
c.4100C>A (p.Pro1367His)
c.3968C>A (p.Pro1323His)
c.3836C>A (p.Pro1279His)
20g.32436701C=CA2360293826ASXL1c.3989C= (p.Pro1330=)
c.3806C= (p.Pro1269=)
n.6342C=
c.1870-1729C= (n.1870-1729C=)
c.3974C= (p.Pro1325=)
c.3986C= (p.Pro1329=)
c.3959C= (p.Pro1320=)
c.3905C= (p.Pro1302=)
c.3305C= (p.Pro1102=)
c.4253C= (p.Pro1418=)
c.4250C= (p.Pro1417=)
c.4169C= (p.Pro1390=)
c.4100C= (p.Pro1367=)
c.3968C= (p.Pro1323=)
c.3836C= (p.Pro1279=)
20g.32436701C>GCA408564208ASXL1c.3989C>G (p.Pro1330Arg)
c.3806C>G (p.Pro1269Arg)
n.6342C>G
c.1870-1729C>G (n.1870-1729C>G)
c.3974C>G (p.Pro1325Arg)
c.3986C>G (p.Pro1329Arg)
c.3959C>G (p.Pro1320Arg)
c.3905C>G (p.Pro1302Arg)
c.3305C>G (p.Pro1102Arg)
c.4253C>G (p.Pro1418Arg)
c.4250C>G (p.Pro1417Arg)
c.4169C>G (p.Pro1390Arg)
c.4100C>G (p.Pro1367Arg)
c.3968C>G (p.Pro1323Arg)
c.3836C>G (p.Pro1279Arg)
 ClinVar
20g.32436701C>TCA9808943ASXL1c.3989C>T (p.Pro1330Leu)
c.3806C>T (p.Pro1269Leu)
n.6342C>T
c.1870-1729C>T (n.1870-1729C>T)
c.3974C>T (p.Pro1325Leu)
c.3986C>T (p.Pro1329Leu)
c.3959C>T (p.Pro1320Leu)
c.3905C>T (p.Pro1302Leu)
c.3305C>T (p.Pro1102Leu)
c.4253C>T (p.Pro1418Leu)
c.4250C>T (p.Pro1417Leu)
c.4169C>T (p.Pro1390Leu)
c.4100C>T (p.Pro1367Leu)
c.3968C>T (p.Pro1323Leu)
c.3836C>T (p.Pro1279Leu)
 dbSNP ExAC gnomAD v3 gnomAD v4
20g.32436702T>ACA510467553ASXL1c.3990T>A (p.Pro1330=)
c.3807T>A (p.Pro1269=)
n.6343T>A
c.1870-1728T>A (n.1870-1728T>A)
c.3975T>A (p.Pro1325=)
c.3987T>A (p.Pro1329=)
c.3960T>A (p.Pro1320=)
c.3906T>A (p.Pro1302=)
c.3306T>A (p.Pro1102=)
c.4254T>A (p.Pro1418=)
c.4251T>A (p.Pro1417=)
c.4170T>A (p.Pro1390=)
c.4101T>A (p.Pro1367=)
c.3969T>A (p.Pro1323=)
c.3837T>A (p.Pro1279=)
20g.32436702T>CCA510467554ASXL1c.3990T>C (p.Pro1330=)
c.3807T>C (p.Pro1269=)
n.6343T>C
c.1870-1728T>C (n.1870-1728T>C)
c.3975T>C (p.Pro1325=)
c.3987T>C (p.Pro1329=)
c.3960T>C (p.Pro1320=)
c.3906T>C (p.Pro1302=)
c.3306T>C (p.Pro1102=)
c.4254T>C (p.Pro1418=)
c.4251T>C (p.Pro1417=)
c.4170T>C (p.Pro1390=)
c.4101T>C (p.Pro1367=)
c.3969T>C (p.Pro1323=)
c.3837T>C (p.Pro1279=)
20g.32436702T>GCA9808944ASXL1c.3990T>G (p.Pro1330=)
c.3807T>G (p.Pro1269=)
n.6343T>G
c.1870-1728T>G (n.1870-1728T>G)
c.3975T>G (p.Pro1325=)
c.3987T>G (p.Pro1329=)
c.3960T>G (p.Pro1320=)
c.3906T>G (p.Pro1302=)
c.3306T>G (p.Pro1102=)
c.4254T>G (p.Pro1418=)
c.4251T>G (p.Pro1417=)
c.4170T>G (p.Pro1390=)
c.4101T>G (p.Pro1367=)
c.3969T>G (p.Pro1323=)
c.3837T>G (p.Pro1279=)
 dbSNP ExAC gnomAD v2
20g.32436702T=CA2360293827ASXL1c.3990T= (p.Pro1330=)
c.3807T= (p.Pro1269=)
n.6343T=
c.1870-1728T= (n.1870-1728T=)
c.3975T= (p.Pro1325=)
c.3987T= (p.Pro1329=)
c.3960T= (p.Pro1320=)
c.3906T= (p.Pro1302=)
c.3306T= (p.Pro1102=)
c.4254T= (p.Pro1418=)
c.4251T= (p.Pro1417=)
c.4170T= (p.Pro1390=)
c.4101T= (p.Pro1367=)
c.3969T= (p.Pro1323=)
c.3837T= (p.Pro1279=)
20g.32436703C>ACA408564209ASXL1c.3991C>A (p.Pro1331Thr)
c.3808C>A (p.Pro1270Thr)
n.6344C>A
c.1870-1727C>A (n.1870-1727C>A)
c.3976C>A (p.Pro1326Thr)
c.3988C>A (p.Pro1330Thr)
c.3961C>A (p.Pro1321Thr)
c.3907C>A (p.Pro1303Thr)
c.3307C>A (p.Pro1103Thr)
c.4255C>A (p.Pro1419Thr)
c.4252C>A (p.Pro1418Thr)
c.4171C>A (p.Pro1391Thr)
c.4102C>A (p.Pro1368Thr)
c.3970C>A (p.Pro1324Thr)
c.3838C>A (p.Pro1280Thr)
20g.32436703C>GCA408564210ASXL1c.3991C>G (p.Pro1331Ala)
c.3808C>G (p.Pro1270Ala)
n.6344C>G
c.1870-1727C>G (n.1870-1727C>G)
c.3976C>G (p.Pro1326Ala)
c.3988C>G (p.Pro1330Ala)
c.3961C>G (p.Pro1321Ala)
c.3907C>G (p.Pro1303Ala)
c.3307C>G (p.Pro1103Ala)
c.4255C>G (p.Pro1419Ala)
c.4252C>G (p.Pro1418Ala)
c.4171C>G (p.Pro1391Ala)
c.4102C>G (p.Pro1368Ala)
c.3970C>G (p.Pro1324Ala)
c.3838C>G (p.Pro1280Ala)
 gnomAD v4
20g.32436703C>TCA408564211ASXL1c.3991C>T (p.Pro1331Ser)
c.3808C>T (p.Pro1270Ser)
n.6344C>T
c.1870-1727C>T (n.1870-1727C>T)
c.3976C>T (p.Pro1326Ser)
c.3988C>T (p.Pro1330Ser)
c.3961C>T (p.Pro1321Ser)
c.3907C>T (p.Pro1303Ser)
c.3307C>T (p.Pro1103Ser)
c.4255C>T (p.Pro1419Ser)
c.4252C>T (p.Pro1418Ser)
c.4171C>T (p.Pro1391Ser)
c.4102C>T (p.Pro1368Ser)
c.3970C>T (p.Pro1324Ser)
c.3838C>T (p.Pro1280Ser)
 gnomAD v4 COSMIC COSMIC
20g.32436703_32436704delinsTCA645612975ASXL1c.3991_3992delinsT (p.Pro1331Ter)
c.3808_3809delinsT (p.Pro1270Ter)
n.6344_6345delinsT
c.1870-1727_1870-1726delinsT (n.1870-1727_1870-1726delinsT)
c.3976_3977delinsT (p.Pro1326Ter)
c.3988_3989delinsT (p.Pro1330Ter)
c.3961_3962delinsT (p.Pro1321Ter)
c.3907_3908delinsT (p.Pro1303Ter)
c.3307_3308delinsT (p.Pro1103Ter)
c.4255_4256delinsT (p.Pro1419Ter)
c.4252_4253delinsT (p.Pro1418Ter)
c.4171_4172delinsT (p.Pro1391Ter)
c.4102_4103delinsT (p.Pro1368Ter)
c.3970_3971delinsT (p.Pro1324Ter)
c.3838_3839delinsT (p.Pro1280Ter)
 COSMIC
20g.32436704C>ACA408564212ASXL1c.3992C>A (p.Pro1331Gln)
c.3809C>A (p.Pro1270Gln)
n.6345C>A
c.1870-1726C>A (n.1870-1726C>A)
c.3977C>A (p.Pro1326Gln)
c.3989C>A (p.Pro1330Gln)
c.3962C>A (p.Pro1321Gln)
c.3908C>A (p.Pro1303Gln)
c.3308C>A (p.Pro1103Gln)
c.4256C>A (p.Pro1419Gln)
c.4253C>A (p.Pro1418Gln)
c.4172C>A (p.Pro1391Gln)
c.4103C>A (p.Pro1368Gln)
c.3971C>A (p.Pro1324Gln)
c.3839C>A (p.Pro1280Gln)
20g.32436704C>GCA408564213ASXL1c.3992C>G (p.Pro1331Arg)
c.3809C>G (p.Pro1270Arg)
n.6345C>G
c.1870-1726C>G (n.1870-1726C>G)
c.3977C>G (p.Pro1326Arg)
c.3989C>G (p.Pro1330Arg)
c.3962C>G (p.Pro1321Arg)
c.3908C>G (p.Pro1303Arg)
c.3308C>G (p.Pro1103Arg)
c.4256C>G (p.Pro1419Arg)
c.4253C>G (p.Pro1418Arg)
c.4172C>G (p.Pro1391Arg)
c.4103C>G (p.Pro1368Arg)
c.3971C>G (p.Pro1324Arg)
c.3839C>G (p.Pro1280Arg)
 ClinVar
20g.32436704C>TCA408564214ASXL1c.3992C>T (p.Pro1331Leu)
c.3809C>T (p.Pro1270Leu)
n.6345C>T
c.1870-1726C>T (n.1870-1726C>T)
c.3977C>T (p.Pro1326Leu)
c.3989C>T (p.Pro1330Leu)
c.3962C>T (p.Pro1321Leu)
c.3908C>T (p.Pro1303Leu)
c.3308C>T (p.Pro1103Leu)
c.4256C>T (p.Pro1419Leu)
c.4253C>T (p.Pro1418Leu)
c.4172C>T (p.Pro1391Leu)
c.4103C>T (p.Pro1368Leu)
c.3971C>T (p.Pro1324Leu)
c.3839C>T (p.Pro1280Leu)
 dbSNP
20g.32436705A=CA2360293828ASXL1c.3993A= (p.Pro1331=)
c.3810A= (p.Pro1270=)
n.6346A=
c.1870-1725A= (n.1870-1725A=)
c.3978A= (p.Pro1326=)
c.3990A= (p.Pro1330=)
c.3963A= (p.Pro1321=)
c.3909A= (p.Pro1303=)
c.3309A= (p.Pro1103=)
c.4257A= (p.Pro1419=)
c.4254A= (p.Pro1418=)
c.4173A= (p.Pro1391=)
c.4104A= (p.Pro1368=)
c.3972A= (p.Pro1324=)
c.3840A= (p.Pro1280=)
20g.32436705A>CCA510467555ASXL1c.3993A>C (p.Pro1331=)
c.3810A>C (p.Pro1270=)
n.6346A>C
c.1870-1725A>C (n.1870-1725A>C)
c.3978A>C (p.Pro1326=)
c.3990A>C (p.Pro1330=)
c.3963A>C (p.Pro1321=)
c.3909A>C (p.Pro1303=)
c.3309A>C (p.Pro1103=)
c.4257A>C (p.Pro1419=)
c.4254A>C (p.Pro1418=)
c.4173A>C (p.Pro1391=)
c.4104A>C (p.Pro1368=)
c.3972A>C (p.Pro1324=)
c.3840A>C (p.Pro1280=)
20g.32436705A>GCA510467556ASXL1c.3993A>G (p.Pro1331=)
c.3810A>G (p.Pro1270=)
n.6346A>G
c.1870-1725A>G (n.1870-1725A>G)
c.3978A>G (p.Pro1326=)
c.3990A>G (p.Pro1330=)
c.3963A>G (p.Pro1321=)
c.3909A>G (p.Pro1303=)
c.3309A>G (p.Pro1103=)
c.4257A>G (p.Pro1419=)
c.4254A>G (p.Pro1418=)
c.4173A>G (p.Pro1391=)
c.4104A>G (p.Pro1368=)
c.3972A>G (p.Pro1324=)
c.3840A>G (p.Pro1280=)
 dbSNP gnomAD v3 gnomAD v4
20g.32436705A>TCA510467557ASXL1c.3993A>T (p.Pro1331=)
c.3810A>T (p.Pro1270=)
n.6346A>T
c.1870-1725A>T (n.1870-1725A>T)
c.3978A>T (p.Pro1326=)
c.3990A>T (p.Pro1330=)
c.3963A>T (p.Pro1321=)
c.3909A>T (p.Pro1303=)
c.3309A>T (p.Pro1103=)
c.4257A>T (p.Pro1419=)
c.4254A>T (p.Pro1418=)
c.4173A>T (p.Pro1391=)
c.4104A>T (p.Pro1368=)
c.3972A>T (p.Pro1324=)
c.3840A>T (p.Pro1280=)
20g.32436706G>ACA408564215ASXL1c.3994G>A (p.Val1332Ile)
c.3811G>A (p.Val1271Ile)
n.6347G>A
c.1870-1724G>A (n.1870-1724G>A)
c.3979G>A (p.Val1327Ile)
c.3991G>A (p.Val1331Ile)
c.3964G>A (p.Val1322Ile)
c.3910G>A (p.Val1304Ile)
c.3310G>A (p.Val1104Ile)
c.4258G>A (p.Val1420Ile)
c.4255G>A (p.Val1419Ile)
c.4174G>A (p.Val1392Ile)
c.4105G>A (p.Val1369Ile)
c.3973G>A (p.Val1325Ile)
c.3841G>A (p.Val1281Ile)
20g.32436706G>CCA408564217ASXL1c.3994G>C (p.Val1332Leu)
c.3811G>C (p.Val1271Leu)
n.6347G>C
c.1870-1724G>C (n.1870-1724G>C)
c.3979G>C (p.Val1327Leu)
c.3991G>C (p.Val1331Leu)
c.3964G>C (p.Val1322Leu)
c.3910G>C (p.Val1304Leu)
c.3310G>C (p.Val1104Leu)
c.4258G>C (p.Val1420Leu)
c.4255G>C (p.Val1419Leu)
c.4174G>C (p.Val1392Leu)
c.4105G>C (p.Val1369Leu)
c.3973G>C (p.Val1325Leu)
c.3841G>C (p.Val1281Leu)
20g.32436706G>TCA408564216ASXL1c.3994G>T (p.Val1332Phe)
c.3811G>T (p.Val1271Phe)
n.6347G>T
c.1870-1724G>T (n.1870-1724G>T)
c.3979G>T (p.Val1327Phe)
c.3991G>T (p.Val1331Phe)
c.3964G>T (p.Val1322Phe)
c.3910G>T (p.Val1304Phe)
c.3310G>T (p.Val1104Phe)
c.4258G>T (p.Val1420Phe)
c.4255G>T (p.Val1419Phe)
c.4174G>T (p.Val1392Phe)
c.4105G>T (p.Val1369Phe)
c.3973G>T (p.Val1325Phe)
c.3841G>T (p.Val1281Phe)
20g.32436707T>ACA408564218ASXL1c.3995T>A (p.Val1332Asp)
c.3812T>A (p.Val1271Asp)
n.6348T>A
c.1870-1723T>A (n.1870-1723T>A)
c.3980T>A (p.Val1327Asp)
c.3992T>A (p.Val1331Asp)
c.3965T>A (p.Val1322Asp)
c.3911T>A (p.Val1304Asp)
c.3311T>A (p.Val1104Asp)
c.4259T>A (p.Val1420Asp)
c.4256T>A (p.Val1419Asp)
c.4175T>A (p.Val1392Asp)
c.4106T>A (p.Val1369Asp)
c.3974T>A (p.Val1325Asp)
c.3842T>A (p.Val1281Asp)
20g.32436707T>CCA408564219ASXL1c.3995T>C (p.Val1332Ala)
c.3812T>C (p.Val1271Ala)
n.6348T>C
c.1870-1723T>C (n.1870-1723T>C)
c.3980T>C (p.Val1327Ala)
c.3992T>C (p.Val1331Ala)
c.3965T>C (p.Val1322Ala)
c.3911T>C (p.Val1304Ala)
c.3311T>C (p.Val1104Ala)
c.4259T>C (p.Val1420Ala)
c.4256T>C (p.Val1419Ala)
c.4175T>C (p.Val1392Ala)
c.4106T>C (p.Val1369Ala)
c.3974T>C (p.Val1325Ala)
c.3842T>C (p.Val1281Ala)
20g.32436707T>GCA408564220ASXL1c.3995T>G (p.Val1332Gly)
c.3812T>G (p.Val1271Gly)
n.6348T>G
c.1870-1723T>G (n.1870-1723T>G)
c.3980T>G (p.Val1327Gly)
c.3992T>G (p.Val1331Gly)
c.3965T>G (p.Val1322Gly)
c.3911T>G (p.Val1304Gly)
c.3311T>G (p.Val1104Gly)
c.4259T>G (p.Val1420Gly)
c.4256T>G (p.Val1419Gly)
c.4175T>G (p.Val1392Gly)
c.4106T>G (p.Val1369Gly)
c.3974T>G (p.Val1325Gly)
c.3842T>G (p.Val1281Gly)
20g.32436711delCA2736734513ASXL1c.3999del (p.Ser1335ValfsTer?)
c.3816del (p.Ser1274ValfsTer?)
n.6352del
c.1870-1719del (n.1870-1719del)
c.3984del (p.Ser1330ValfsTer?)
c.3996del (p.Ser1334ValfsTer?)
c.3969del (p.Ser1325ValfsTer?)
c.3915del (p.Ser1307ValfsTer?)
c.3315del (p.Ser1107ValfsTer?)
c.4263del (p.Ser1423ValfsTer?)
c.4260del (p.Ser1422ValfsTer?)
c.4179del (p.Ser1395ValfsTer?)
c.4110del (p.Ser1372ValfsTer?)
c.3978del (p.Ser1328ValfsTer?)
c.3846del (p.Ser1284ValfsTer?)
 dbSNP
20g.32436708T>ACA510467559ASXL1c.3996T>A (p.Val1332=)
c.3813T>A (p.Val1271=)
n.6349T>A
c.1870-1722T>A (n.1870-1722T>A)
c.3981T>A (p.Val1327=)
c.3993T>A (p.Val1331=)
c.3966T>A (p.Val1322=)
c.3912T>A (p.Val1304=)
c.3312T>A (p.Val1104=)
c.4260T>A (p.Val1420=)
c.4257T>A (p.Val1419=)
c.4176T>A (p.Val1392=)
c.4107T>A (p.Val1369=)
c.3975T>A (p.Val1325=)
c.3843T>A (p.Val1281=)
20g.32436708T>CCA510467560ASXL1c.3996T>C (p.Val1332=)
c.3813T>C (p.Val1271=)
n.6349T>C
c.1870-1722T>C (n.1870-1722T>C)
c.3981T>C (p.Val1327=)
c.3993T>C (p.Val1331=)
c.3966T>C (p.Val1322=)
c.3912T>C (p.Val1304=)
c.3312T>C (p.Val1104=)
c.4260T>C (p.Val1420=)
c.4257T>C (p.Val1419=)
c.4176T>C (p.Val1392=)
c.4107T>C (p.Val1369=)
c.3975T>C (p.Val1325=)
c.3843T>C (p.Val1281=)
20g.32436708T>GCA510467561ASXL1c.3996T>G (p.Val1332=)
c.3813T>G (p.Val1271=)
n.6349T>G
c.1870-1722T>G (n.1870-1722T>G)
c.3981T>G (p.Val1327=)
c.3993T>G (p.Val1331=)
c.3966T>G (p.Val1322=)
c.3912T>G (p.Val1304=)
c.3312T>G (p.Val1104=)
c.4260T>G (p.Val1420=)
c.4257T>G (p.Val1419=)
c.4176T>G (p.Val1392=)
c.4107T>G (p.Val1369=)
c.3975T>G (p.Val1325=)
c.3843T>G (p.Val1281=)
20g.32436709T>ACA408564221ASXL1c.3997T>A (p.Phe1333Ile)
c.3814T>A (p.Phe1272Ile)
n.6350T>A
c.1870-1721T>A (n.1870-1721T>A)
c.3982T>A (p.Phe1328Ile)
c.3994T>A (p.Phe1332Ile)
c.3967T>A (p.Phe1323Ile)
c.3913T>A (p.Phe1305Ile)
c.3313T>A (p.Phe1105Ile)
c.4261T>A (p.Phe1421Ile)
c.4258T>A (p.Phe1420Ile)
c.4177T>A (p.Phe1393Ile)
c.4108T>A (p.Phe1370Ile)
c.3976T>A (p.Phe1326Ile)
c.3844T>A (p.Phe1282Ile)
20g.32436709T>CCA408564222ASXL1c.3997T>C (p.Phe1333Leu)
c.3814T>C (p.Phe1272Leu)
n.6350T>C
c.1870-1721T>C (n.1870-1721T>C)
c.3982T>C (p.Phe1328Leu)
c.3994T>C (p.Phe1332Leu)
c.3967T>C (p.Phe1323Leu)
c.3913T>C (p.Phe1305Leu)
c.3313T>C (p.Phe1105Leu)
c.4261T>C (p.Phe1421Leu)
c.4258T>C (p.Phe1420Leu)
c.4177T>C (p.Phe1393Leu)
c.4108T>C (p.Phe1370Leu)
c.3976T>C (p.Phe1326Leu)
c.3844T>C (p.Phe1282Leu)
20g.32436709T>GCA408564223ASXL1c.3997T>G (p.Phe1333Val)
c.3814T>G (p.Phe1272Val)
n.6350T>G
c.1870-1721T>G (n.1870-1721T>G)
c.3982T>G (p.Phe1328Val)
c.3994T>G (p.Phe1332Val)
c.3967T>G (p.Phe1323Val)
c.3913T>G (p.Phe1305Val)
c.3313T>G (p.Phe1105Val)
c.4261T>G (p.Phe1421Val)
c.4258T>G (p.Phe1420Val)
c.4177T>G (p.Phe1393Val)
c.4108T>G (p.Phe1370Val)
c.3976T>G (p.Phe1326Val)
c.3844T>G (p.Phe1282Val)
20g.32436710T>ACA408564226ASXL1c.3998T>A (p.Phe1333Tyr)
c.3815T>A (p.Phe1272Tyr)
n.6351T>A
c.1870-1720T>A (n.1870-1720T>A)
c.3983T>A (p.Phe1328Tyr)
c.3995T>A (p.Phe1332Tyr)
c.3968T>A (p.Phe1323Tyr)
c.3914T>A (p.Phe1305Tyr)
c.3314T>A (p.Phe1105Tyr)
c.4262T>A (p.Phe1421Tyr)
c.4259T>A (p.Phe1420Tyr)
c.4178T>A (p.Phe1393Tyr)
c.4109T>A (p.Phe1370Tyr)
c.3977T>A (p.Phe1326Tyr)
c.3845T>A (p.Phe1282Tyr)
20g.32436710T>CCA408564224ASXL1c.3998T>C (p.Phe1333Ser)
c.3815T>C (p.Phe1272Ser)
n.6351T>C
c.1870-1720T>C (n.1870-1720T>C)
c.3983T>C (p.Phe1328Ser)
c.3995T>C (p.Phe1332Ser)
c.3968T>C (p.Phe1323Ser)
c.3914T>C (p.Phe1305Ser)
c.3314T>C (p.Phe1105Ser)
c.4262T>C (p.Phe1421Ser)
c.4259T>C (p.Phe1420Ser)
c.4178T>C (p.Phe1393Ser)
c.4109T>C (p.Phe1370Ser)
c.3977T>C (p.Phe1326Ser)
c.3845T>C (p.Phe1282Ser)
 dbSNP
20g.32436710T>GCA408564225ASXL1c.3998T>G (p.Phe1333Cys)
c.3815T>G (p.Phe1272Cys)
n.6351T>G
c.1870-1720T>G (n.1870-1720T>G)
c.3983T>G (p.Phe1328Cys)
c.3995T>G (p.Phe1332Cys)
c.3968T>G (p.Phe1323Cys)
c.3914T>G (p.Phe1305Cys)
c.3314T>G (p.Phe1105Cys)
c.4262T>G (p.Phe1421Cys)
c.4259T>G (p.Phe1420Cys)
c.4178T>G (p.Phe1393Cys)
c.4109T>G (p.Phe1370Cys)
c.3977T>G (p.Phe1326Cys)
c.3845T>G (p.Phe1282Cys)
20g.32436711T>ACA408564227ASXL1c.3999T>A (p.Phe1333Leu)
c.3816T>A (p.Phe1272Leu)
n.6352T>A
c.1870-1719T>A (n.1870-1719T>A)
c.3984T>A (p.Phe1328Leu)
c.3996T>A (p.Phe1332Leu)
c.3969T>A (p.Phe1323Leu)
c.3915T>A (p.Phe1305Leu)
c.3315T>A (p.Phe1105Leu)
c.4263T>A (p.Phe1421Leu)
c.4260T>A (p.Phe1420Leu)
c.4179T>A (p.Phe1393Leu)
c.4110T>A (p.Phe1370Leu)
c.3978T>A (p.Phe1326Leu)
c.3846T>A (p.Phe1282Leu)
20g.32436711T>CCA510467565ASXL1c.3999T>C (p.Phe1333=)
c.3816T>C (p.Phe1272=)
n.6352T>C
c.1870-1719T>C (n.1870-1719T>C)
c.3984T>C (p.Phe1328=)
c.3996T>C (p.Phe1332=)
c.3969T>C (p.Phe1323=)
c.3915T>C (p.Phe1305=)
c.3315T>C (p.Phe1105=)
c.4263T>C (p.Phe1421=)
c.4260T>C (p.Phe1420=)
c.4179T>C (p.Phe1393=)
c.4110T>C (p.Phe1370=)
c.3978T>C (p.Phe1326=)
c.3846T>C (p.Phe1282=)
20g.32436711T>GCA408564228ASXL1c.3999T>G (p.Phe1333Leu)
c.3816T>G (p.Phe1272Leu)
n.6352T>G
c.1870-1719T>G (n.1870-1719T>G)
c.3984T>G (p.Phe1328Leu)
c.3996T>G (p.Phe1332Leu)
c.3969T>G (p.Phe1323Leu)
c.3915T>G (p.Phe1305Leu)
c.3315T>G (p.Phe1105Leu)
c.4263T>G (p.Phe1421Leu)
c.4260T>G (p.Phe1420Leu)
c.4179T>G (p.Phe1393Leu)
c.4110T>G (p.Phe1370Leu)
c.3978T>G (p.Phe1326Leu)
c.3846T>G (p.Phe1282Leu)
20g.32436712C>ACA408564229ASXL1c.4000C>A (p.Pro1334Thr)
c.3817C>A (p.Pro1273Thr)
n.6353C>A
c.1870-1718C>A (n.1870-1718C>A)
c.3985C>A (p.Pro1329Thr)
c.3997C>A (p.Pro1333Thr)
c.3970C>A (p.Pro1324Thr)
c.3916C>A (p.Pro1306Thr)
c.3316C>A (p.Pro1106Thr)
c.4264C>A (p.Pro1422Thr)
c.4261C>A (p.Pro1421Thr)
c.4180C>A (p.Pro1394Thr)
c.4111C>A (p.Pro1371Thr)
c.3979C>A (p.Pro1327Thr)
c.3847C>A (p.Pro1283Thr)
20g.32436712C>GCA408564230ASXL1c.4000C>G (p.Pro1334Ala)
c.3817C>G (p.Pro1273Ala)
n.6353C>G
c.1870-1718C>G (n.1870-1718C>G)
c.3985C>G (p.Pro1329Ala)
c.3997C>G (p.Pro1333Ala)
c.3970C>G (p.Pro1324Ala)
c.3916C>G (p.Pro1306Ala)
c.3316C>G (p.Pro1106Ala)
c.4264C>G (p.Pro1422Ala)
c.4261C>G (p.Pro1421Ala)
c.4180C>G (p.Pro1394Ala)
c.4111C>G (p.Pro1371Ala)
c.3979C>G (p.Pro1327Ala)
c.3847C>G (p.Pro1283Ala)
 ClinVar
20g.32436712C>TCA408564231ASXL1c.4000C>T (p.Pro1334Ser)
c.3817C>T (p.Pro1273Ser)
n.6353C>T
c.1870-1718C>T (n.1870-1718C>T)
c.3985C>T (p.Pro1329Ser)
c.3997C>T (p.Pro1333Ser)
c.3970C>T (p.Pro1324Ser)
c.3916C>T (p.Pro1306Ser)
c.3316C>T (p.Pro1106Ser)
c.4264C>T (p.Pro1422Ser)
c.4261C>T (p.Pro1421Ser)
c.4180C>T (p.Pro1394Ser)
c.4111C>T (p.Pro1371Ser)
c.3979C>T (p.Pro1327Ser)
c.3847C>T (p.Pro1283Ser)
20g.32436714delCA2580098171ASXL1c.4002del (p.Ser1335ValfsTer?)
c.3819del (p.Ser1274ValfsTer?)
n.6355del
c.1870-1716del (n.1870-1716del)
c.3987del (p.Ser1330ValfsTer?)
c.3999del (p.Ser1334ValfsTer?)
c.3972del (p.Ser1325ValfsTer?)
c.3918del (p.Ser1307ValfsTer?)
c.3318del (p.Ser1107ValfsTer?)
c.4266del (p.Ser1423ValfsTer?)
c.4263del (p.Ser1422ValfsTer?)
c.4182del (p.Ser1395ValfsTer?)
c.4113del (p.Ser1372ValfsTer?)
c.3981del (p.Ser1328ValfsTer?)
c.3849del (p.Ser1284ValfsTer?)
 ClinVar
20g.32436713C>ACA408564232ASXL1c.4001C>A (p.Pro1334His)
c.3818C>A (p.Pro1273His)
n.6354C>A
c.1870-1717C>A (n.1870-1717C>A)
c.3986C>A (p.Pro1329His)
c.3998C>A (p.Pro1333His)
c.3971C>A (p.Pro1324His)
c.3917C>A (p.Pro1306His)
c.3317C>A (p.Pro1106His)
c.4265C>A (p.Pro1422His)
c.4262C>A (p.Pro1421His)
c.4181C>A (p.Pro1394His)
c.4112C>A (p.Pro1371His)
c.3980C>A (p.Pro1327His)
c.3848C>A (p.Pro1283His)
 dbSNP
20g.32436713C=CA2360293829ASXL1c.4001C= (p.Pro1334=)
c.3818C= (p.Pro1273=)
n.6354C=
c.1870-1717C= (n.1870-1717C=)
c.3986C= (p.Pro1329=)
c.3998C= (p.Pro1333=)
c.3971C= (p.Pro1324=)
c.3917C= (p.Pro1306=)
c.3317C= (p.Pro1106=)
c.4265C= (p.Pro1422=)
c.4262C= (p.Pro1421=)
c.4181C= (p.Pro1394=)
c.4112C= (p.Pro1371=)
c.3980C= (p.Pro1327=)
c.3848C= (p.Pro1283=)
20g.32436713C>GCA408564234ASXL1c.4001C>G (p.Pro1334Arg)
c.3818C>G (p.Pro1273Arg)
n.6354C>G
c.1870-1717C>G (n.1870-1717C>G)
c.3986C>G (p.Pro1329Arg)
c.3998C>G (p.Pro1333Arg)
c.3971C>G (p.Pro1324Arg)
c.3917C>G (p.Pro1306Arg)
c.3317C>G (p.Pro1106Arg)
c.4265C>G (p.Pro1422Arg)
c.4262C>G (p.Pro1421Arg)
c.4181C>G (p.Pro1394Arg)
c.4112C>G (p.Pro1371Arg)
c.3980C>G (p.Pro1327Arg)
c.3848C>G (p.Pro1283Arg)
 dbSNP gnomAD v2 gnomAD v4
20g.32436713C>TCA408564233ASXL1c.4001C>T (p.Pro1334Leu)
c.3818C>T (p.Pro1273Leu)
n.6354C>T
c.1870-1717C>T (n.1870-1717C>T)
c.3986C>T (p.Pro1329Leu)
c.3998C>T (p.Pro1333Leu)
c.3971C>T (p.Pro1324Leu)
c.3917C>T (p.Pro1306Leu)
c.3317C>T (p.Pro1106Leu)
c.4265C>T (p.Pro1422Leu)
c.4262C>T (p.Pro1421Leu)
c.4181C>T (p.Pro1394Leu)
c.4112C>T (p.Pro1371Leu)
c.3980C>T (p.Pro1327Leu)
c.3848C>T (p.Pro1283Leu)
 COSMIC COSMIC
20g.32436714C>ACA510467569ASXL1c.4002C>A (p.Pro1334=)
c.3819C>A (p.Pro1273=)
n.6355C>A
c.1870-1716C>A (n.1870-1716C>A)
c.3987C>A (p.Pro1329=)
c.3999C>A (p.Pro1333=)
c.3972C>A (p.Pro1324=)
c.3918C>A (p.Pro1306=)
c.3318C>A (p.Pro1106=)
c.4266C>A (p.Pro1422=)
c.4263C>A (p.Pro1421=)
c.4182C>A (p.Pro1394=)
c.4113C>A (p.Pro1371=)
c.3981C>A (p.Pro1327=)
c.3849C>A (p.Pro1283=)
20g.32436714C>GCA510467568ASXL1c.4002C>G (p.Pro1334=)
c.3819C>G (p.Pro1273=)
n.6355C>G
c.1870-1716C>G (n.1870-1716C>G)
c.3987C>G (p.Pro1329=)
c.3999C>G (p.Pro1333=)
c.3972C>G (p.Pro1324=)
c.3918C>G (p.Pro1306=)
c.3318C>G (p.Pro1106=)
c.4266C>G (p.Pro1422=)
c.4263C>G (p.Pro1421=)
c.4182C>G (p.Pro1394=)
c.4113C>G (p.Pro1371=)
c.3981C>G (p.Pro1327=)
c.3849C>G (p.Pro1283=)
20g.32436714C>TCA510467567ASXL1c.4002C>T (p.Pro1334=)
c.3819C>T (p.Pro1273=)
n.6355C>T
c.1870-1716C>T (n.1870-1716C>T)
c.3987C>T (p.Pro1329=)
c.3999C>T (p.Pro1333=)
c.3972C>T (p.Pro1324=)
c.3918C>T (p.Pro1306=)
c.3318C>T (p.Pro1106=)
c.4266C>T (p.Pro1422=)
c.4263C>T (p.Pro1421=)
c.4182C>T (p.Pro1394=)
c.4113C>T (p.Pro1371=)
c.3981C>T (p.Pro1327=)
c.3849C>T (p.Pro1283=)
20g.32436715A>CCA408564235ASXL1c.4003A>C (p.Ser1335Arg)
c.3820A>C (p.Ser1274Arg)
n.6356A>C
c.1870-1715A>C (n.1870-1715A>C)
c.3988A>C (p.Ser1330Arg)
c.4000A>C (p.Ser1334Arg)
c.3973A>C (p.Ser1325Arg)
c.3919A>C (p.Ser1307Arg)
c.3319A>C (p.Ser1107Arg)
c.4267A>C (p.Ser1423Arg)
c.4264A>C (p.Ser1422Arg)
c.4183A>C (p.Ser1395Arg)
c.4114A>C (p.Ser1372Arg)
c.3982A>C (p.Ser1328Arg)
c.3850A>C (p.Ser1284Arg)
20g.32436715A>GCA408564236ASXL1c.4003A>G (p.Ser1335Gly)
c.3820A>G (p.Ser1274Gly)
n.6356A>G
c.1870-1715A>G (n.1870-1715A>G)
c.3988A>G (p.Ser1330Gly)
c.4000A>G (p.Ser1334Gly)
c.3973A>G (p.Ser1325Gly)
c.3919A>G (p.Ser1307Gly)
c.3319A>G (p.Ser1107Gly)
c.4267A>G (p.Ser1423Gly)
c.4264A>G (p.Ser1422Gly)
c.4183A>G (p.Ser1395Gly)
c.4114A>G (p.Ser1372Gly)
c.3982A>G (p.Ser1328Gly)
c.3850A>G (p.Ser1284Gly)
 gnomAD v4
20g.32436715A>TCA408564237ASXL1c.4003A>T (p.Ser1335Cys)
c.3820A>T (p.Ser1274Cys)
n.6356A>T
c.1870-1715A>T (n.1870-1715A>T)
c.3988A>T (p.Ser1330Cys)
c.4000A>T (p.Ser1334Cys)
c.3973A>T (p.Ser1325Cys)
c.3919A>T (p.Ser1307Cys)
c.3319A>T (p.Ser1107Cys)
c.4267A>T (p.Ser1423Cys)
c.4264A>T (p.Ser1422Cys)
c.4183A>T (p.Ser1395Cys)
c.4114A>T (p.Ser1372Cys)
c.3982A>T (p.Ser1328Cys)
c.3850A>T (p.Ser1284Cys)
20g.32436716G>ACA9808945ASXL1c.4004G>A (p.Ser1335Asn)
c.3821G>A (p.Ser1274Asn)
n.6357G>A
c.1870-1714G>A (n.1870-1714G>A)
c.3989G>A (p.Ser1330Asn)
c.4001G>A (p.Ser1334Asn)
c.3974G>A (p.Ser1325Asn)
c.3920G>A (p.Ser1307Asn)
c.3320G>A (p.Ser1107Asn)
c.4268G>A (p.Ser1423Asn)
c.4265G>A (p.Ser1422Asn)
c.4184G>A (p.Ser1395Asn)
c.4115G>A (p.Ser1372Asn)
c.3983G>A (p.Ser1328Asn)
c.3851G>A (p.Ser1284Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436716G>CCA408564238ASXL1c.4004G>C (p.Ser1335Thr)
c.3821G>C (p.Ser1274Thr)
n.6357G>C
c.1870-1714G>C (n.1870-1714G>C)
c.3989G>C (p.Ser1330Thr)
c.4001G>C (p.Ser1334Thr)
c.3974G>C (p.Ser1325Thr)
c.3920G>C (p.Ser1307Thr)
c.3320G>C (p.Ser1107Thr)
c.4268G>C (p.Ser1423Thr)
c.4265G>C (p.Ser1422Thr)
c.4184G>C (p.Ser1395Thr)
c.4115G>C (p.Ser1372Thr)
c.3983G>C (p.Ser1328Thr)
c.3851G>C (p.Ser1284Thr)
20g.32436716G=CA2360293830ASXL1c.4004G= (p.Ser1335=)
c.3821G= (p.Ser1274=)
n.6357G=
c.1870-1714G= (n.1870-1714G=)
c.3989G= (p.Ser1330=)
c.4001G= (p.Ser1334=)
c.3974G= (p.Ser1325=)
c.3920G= (p.Ser1307=)
c.3320G= (p.Ser1107=)
c.4268G= (p.Ser1423=)
c.4265G= (p.Ser1422=)
c.4184G= (p.Ser1395=)
c.4115G= (p.Ser1372=)
c.3983G= (p.Ser1328=)
c.3851G= (p.Ser1284=)
20g.32436716G>TCA408564239ASXL1c.4004G>T (p.Ser1335Ile)
c.3821G>T (p.Ser1274Ile)
n.6357G>T
c.1870-1714G>T (n.1870-1714G>T)
c.3989G>T (p.Ser1330Ile)
c.4001G>T (p.Ser1334Ile)
c.3974G>T (p.Ser1325Ile)
c.3920G>T (p.Ser1307Ile)
c.3320G>T (p.Ser1107Ile)
c.4268G>T (p.Ser1423Ile)
c.4265G>T (p.Ser1422Ile)
c.4184G>T (p.Ser1395Ile)
c.4115G>T (p.Ser1372Ile)
c.3983G>T (p.Ser1328Ile)
c.3851G>T (p.Ser1284Ile)
20g.32436717T>ACA408564240ASXL1c.4005T>A (p.Ser1335Arg)
c.3822T>A (p.Ser1274Arg)
n.6358T>A
c.1870-1713T>A (n.1870-1713T>A)
c.3990T>A (p.Ser1330Arg)
c.4002T>A (p.Ser1334Arg)
c.3975T>A (p.Ser1325Arg)
c.3921T>A (p.Ser1307Arg)
c.3321T>A (p.Ser1107Arg)
c.4269T>A (p.Ser1423Arg)
c.4266T>A (p.Ser1422Arg)
c.4185T>A (p.Ser1395Arg)
c.4116T>A (p.Ser1372Arg)
c.3984T>A (p.Ser1328Arg)
c.3852T>A (p.Ser1284Arg)
20g.32436717T>CCA510467570ASXL1c.4005T>C (p.Ser1335=)
c.3822T>C (p.Ser1274=)
n.6358T>C
c.1870-1713T>C (n.1870-1713T>C)
c.3990T>C (p.Ser1330=)
c.4002T>C (p.Ser1334=)
c.3975T>C (p.Ser1325=)
c.3921T>C (p.Ser1307=)
c.3321T>C (p.Ser1107=)
c.4269T>C (p.Ser1423=)
c.4266T>C (p.Ser1422=)
c.4185T>C (p.Ser1395=)
c.4116T>C (p.Ser1372=)
c.3984T>C (p.Ser1328=)
c.3852T>C (p.Ser1284=)
20g.32436717T>GCA408564241ASXL1c.4005T>G (p.Ser1335Arg)
c.3822T>G (p.Ser1274Arg)
n.6358T>G
c.1870-1713T>G (n.1870-1713T>G)
c.3990T>G (p.Ser1330Arg)
c.4002T>G (p.Ser1334Arg)
c.3975T>G (p.Ser1325Arg)
c.3921T>G (p.Ser1307Arg)
c.3321T>G (p.Ser1107Arg)
c.4269T>G (p.Ser1423Arg)
c.4266T>G (p.Ser1422Arg)
c.4185T>G (p.Ser1395Arg)
c.4116T>G (p.Ser1372Arg)
c.3984T>G (p.Ser1328Arg)
c.3852T>G (p.Ser1284Arg)
20g.32436718G>ACA408564242ASXL1c.4006G>A (p.Gly1336Arg)
c.3823G>A (p.Gly1275Arg)
n.6359G>A
c.1870-1712G>A (n.1870-1712G>A)
c.3991G>A (p.Gly1331Arg)
c.4003G>A (p.Gly1335Arg)
c.3976G>A (p.Gly1326Arg)
c.3922G>A (p.Gly1308Arg)
c.3322G>A (p.Gly1108Arg)
c.4270G>A (p.Gly1424Arg)
c.4267G>A (p.Gly1423Arg)
c.4186G>A (p.Gly1396Arg)
c.4117G>A (p.Gly1373Arg)
c.3985G>A (p.Gly1329Arg)
c.3853G>A (p.Gly1285Arg)
 gnomAD v4
20g.32436718G>CCA408564243ASXL1c.4006G>C (p.Gly1336Arg)
c.3823G>C (p.Gly1275Arg)
n.6359G>C
c.1870-1712G>C (n.1870-1712G>C)
c.3991G>C (p.Gly1331Arg)
c.4003G>C (p.Gly1335Arg)
c.3976G>C (p.Gly1326Arg)
c.3922G>C (p.Gly1308Arg)
c.3322G>C (p.Gly1108Arg)
c.4270G>C (p.Gly1424Arg)
c.4267G>C (p.Gly1423Arg)
c.4186G>C (p.Gly1396Arg)
c.4117G>C (p.Gly1373Arg)
c.3985G>C (p.Gly1329Arg)
c.3853G>C (p.Gly1285Arg)
20g.32436718G>TCA408564244ASXL1c.4006G>T (p.Gly1336Trp)
c.3823G>T (p.Gly1275Trp)
n.6359G>T
c.1870-1712G>T (n.1870-1712G>T)
c.3991G>T (p.Gly1331Trp)
c.4003G>T (p.Gly1335Trp)
c.3976G>T (p.Gly1326Trp)
c.3922G>T (p.Gly1308Trp)
c.3322G>T (p.Gly1108Trp)
c.4270G>T (p.Gly1424Trp)
c.4267G>T (p.Gly1423Trp)
c.4186G>T (p.Gly1396Trp)
c.4117G>T (p.Gly1373Trp)
c.3985G>T (p.Gly1329Trp)
c.3853G>T (p.Gly1285Trp)
20g.32436719G>ACA408564245ASXL1c.4007G>A (p.Gly1336Glu)
c.3824G>A (p.Gly1275Glu)
n.6360G>A
c.1870-1711G>A (n.1870-1711G>A)
c.3992G>A (p.Gly1331Glu)
c.4004G>A (p.Gly1335Glu)
c.3977G>A (p.Gly1326Glu)
c.3923G>A (p.Gly1308Glu)
c.3323G>A (p.Gly1108Glu)
c.4271G>A (p.Gly1424Glu)
c.4268G>A (p.Gly1423Glu)
c.4187G>A (p.Gly1396Glu)
c.4118G>A (p.Gly1373Glu)
c.3986G>A (p.Gly1329Glu)
c.3854G>A (p.Gly1285Glu)
20g.32436719G>CCA408564247ASXL1c.4007G>C (p.Gly1336Ala)
c.3824G>C (p.Gly1275Ala)
n.6360G>C
c.1870-1711G>C (n.1870-1711G>C)
c.3992G>C (p.Gly1331Ala)
c.4004G>C (p.Gly1335Ala)
c.3977G>C (p.Gly1326Ala)
c.3923G>C (p.Gly1308Ala)
c.3323G>C (p.Gly1108Ala)
c.4271G>C (p.Gly1424Ala)
c.4268G>C (p.Gly1423Ala)
c.4187G>C (p.Gly1396Ala)
c.4118G>C (p.Gly1373Ala)
c.3986G>C (p.Gly1329Ala)
c.3854G>C (p.Gly1285Ala)
20g.32436719G>TCA408564246ASXL1c.4007G>T (p.Gly1336Val)
c.3824G>T (p.Gly1275Val)
n.6360G>T
c.1870-1711G>T (n.1870-1711G>T)
c.3992G>T (p.Gly1331Val)
c.4004G>T (p.Gly1335Val)
c.3977G>T (p.Gly1326Val)
c.3923G>T (p.Gly1308Val)
c.3323G>T (p.Gly1108Val)
c.4271G>T (p.Gly1424Val)
c.4268G>T (p.Gly1423Val)
c.4187G>T (p.Gly1396Val)
c.4118G>T (p.Gly1373Val)
c.3986G>T (p.Gly1329Val)
c.3854G>T (p.Gly1285Val)
20g.32436720G>ACA510467572ASXL1c.4008G>A (p.Gly1336=)
c.3825G>A (p.Gly1275=)
n.6361G>A
c.1870-1710G>A (n.1870-1710G>A)
c.3993G>A (p.Gly1331=)
c.4005G>A (p.Gly1335=)
c.3978G>A (p.Gly1326=)
c.3924G>A (p.Gly1308=)
c.3324G>A (p.Gly1108=)
c.4272G>A (p.Gly1424=)
c.4269G>A (p.Gly1423=)
c.4188G>A (p.Gly1396=)
c.4119G>A (p.Gly1373=)
c.3987G>A (p.Gly1329=)
c.3855G>A (p.Gly1285=)
 COSMIC COSMIC
20g.32436720G>CCA510467573ASXL1c.4008G>C (p.Gly1336=)
c.3825G>C (p.Gly1275=)
n.6361G>C
c.1870-1710G>C (n.1870-1710G>C)
c.3993G>C (p.Gly1331=)
c.4005G>C (p.Gly1335=)
c.3978G>C (p.Gly1326=)
c.3924G>C (p.Gly1308=)
c.3324G>C (p.Gly1108=)
c.4272G>C (p.Gly1424=)
c.4269G>C (p.Gly1423=)
c.4188G>C (p.Gly1396=)
c.4119G>C (p.Gly1373=)
c.3987G>C (p.Gly1329=)
c.3855G>C (p.Gly1285=)
20g.32436720G>TCA510467574ASXL1c.4008G>T (p.Gly1336=)
c.3825G>T (p.Gly1275=)
n.6361G>T
c.1870-1710G>T (n.1870-1710G>T)
c.3993G>T (p.Gly1331=)
c.4005G>T (p.Gly1335=)
c.3978G>T (p.Gly1326=)
c.3924G>T (p.Gly1308=)
c.3324G>T (p.Gly1108=)
c.4272G>T (p.Gly1424=)
c.4269G>T (p.Gly1423=)
c.4188G>T (p.Gly1396=)
c.4119G>T (p.Gly1373=)
c.3987G>T (p.Gly1329=)
c.3855G>T (p.Gly1285=)
20g.32436720_32436721delinsGACA2360293831ASXL1c.4008_4009delinsGA (p.Gly1336=)
c.3825_3826delinsGA (p.Gly1275=)
n.6361_6362delinsGA
c.1870-1710_1870-1709delinsGA (n.1870-1710_1870-1709delinsGA)
c.3993_3994delinsGA (p.Gly1331=)
c.4005_4006delinsGA (p.Gly1335=)
c.3978_3979delinsGA (p.Gly1326=)
c.3924_3925delinsGA (p.Gly1308=)
c.3324_3325delinsGA (p.Gly1108=)
c.4272_4273delinsGA (p.Gly1424=)
c.4269_4270delinsGA (p.Gly1423=)
c.4188_4189delinsGA (p.Gly1396=)
c.4119_4120delinsGA (p.Gly1373=)
c.3987_3988delinsGA (p.Gly1329=)
c.3855_3856delinsGA (p.Gly1285=)
20g.32436721A>CCA408564248ASXL1c.4009A>C (p.Lys1337Gln)
c.3826A>C (p.Lys1276Gln)
n.6362A>C
c.1870-1709A>C (n.1870-1709A>C)
c.3994A>C (p.Lys1332Gln)
c.4006A>C (p.Lys1336Gln)
c.3979A>C (p.Lys1327Gln)
c.3925A>C (p.Lys1309Gln)
c.3325A>C (p.Lys1109Gln)
c.4273A>C (p.Lys1425Gln)
c.4270A>C (p.Lys1424Gln)
c.4189A>C (p.Lys1397Gln)
c.4120A>C (p.Lys1374Gln)
c.3988A>C (p.Lys1330Gln)
c.3856A>C (p.Lys1286Gln)
20g.32436721A>GCA408564250ASXL1c.4009A>G (p.Lys1337Glu)
c.3826A>G (p.Lys1276Glu)
n.6362A>G
c.1870-1709A>G (n.1870-1709A>G)
c.3994A>G (p.Lys1332Glu)
c.4006A>G (p.Lys1336Glu)
c.3979A>G (p.Lys1327Glu)
c.3925A>G (p.Lys1309Glu)
c.3325A>G (p.Lys1109Glu)
c.4273A>G (p.Lys1425Glu)
c.4270A>G (p.Lys1424Glu)
c.4189A>G (p.Lys1397Glu)
c.4120A>G (p.Lys1374Glu)
c.3988A>G (p.Lys1330Glu)
c.3856A>G (p.Lys1286Glu)
20g.32436721A>TCA408564249ASXL1c.4009A>T (p.Lys1337Ter)
c.3826A>T (p.Lys1276Ter)
n.6362A>T
c.1870-1709A>T (n.1870-1709A>T)
c.3994A>T (p.Lys1332Ter)
c.4006A>T (p.Lys1336Ter)
c.3979A>T (p.Lys1327Ter)
c.3925A>T (p.Lys1309Ter)
c.3325A>T (p.Lys1109Ter)
c.4273A>T (p.Lys1425Ter)
c.4270A>T (p.Lys1424Ter)
c.4189A>T (p.Lys1397Ter)
c.4120A>T (p.Lys1374Ter)
c.3988A>T (p.Lys1330Ter)
c.3856A>T (p.Lys1286Ter)
20g.32436722delCA743616046ASXL1c.4010del (p.Lys1337SerfsTer?)
c.3827del (p.Lys1276SerfsTer?)
n.6363del
c.1870-1708del (n.1870-1708del)
c.3995del (p.Lys1332SerfsTer?)
c.4007del (p.Lys1336SerfsTer?)
c.3980del (p.Lys1327SerfsTer?)
c.3926del (p.Lys1309SerfsTer?)
c.3326del (p.Lys1109SerfsTer?)
c.4274del (p.Lys1425SerfsTer?)
c.4271del (p.Lys1424SerfsTer?)
c.4190del (p.Lys1397SerfsTer?)
c.4121del (p.Lys1374SerfsTer?)
c.3989del (p.Lys1330SerfsTer?)
c.3857del (p.Lys1286SerfsTer?)
 dbSNP
20g.32436722A>CCA408564251ASXL1c.4010A>C (p.Lys1337Thr)
c.3827A>C (p.Lys1276Thr)
n.6363A>C
c.1870-1708A>C (n.1870-1708A>C)
c.3995A>C (p.Lys1332Thr)
c.4007A>C (p.Lys1336Thr)
c.3980A>C (p.Lys1327Thr)
c.3926A>C (p.Lys1309Thr)
c.3326A>C (p.Lys1109Thr)
c.4274A>C (p.Lys1425Thr)
c.4271A>C (p.Lys1424Thr)
c.4190A>C (p.Lys1397Thr)
c.4121A>C (p.Lys1374Thr)
c.3989A>C (p.Lys1330Thr)
c.3857A>C (p.Lys1286Thr)
20g.32436722A>GCA408564252ASXL1c.4010A>G (p.Lys1337Arg)
c.3827A>G (p.Lys1276Arg)
n.6363A>G
c.1870-1708A>G (n.1870-1708A>G)
c.3995A>G (p.Lys1332Arg)
c.4007A>G (p.Lys1336Arg)
c.3980A>G (p.Lys1327Arg)
c.3926A>G (p.Lys1309Arg)
c.3326A>G (p.Lys1109Arg)
c.4274A>G (p.Lys1425Arg)
c.4271A>G (p.Lys1424Arg)
c.4190A>G (p.Lys1397Arg)
c.4121A>G (p.Lys1374Arg)
c.3989A>G (p.Lys1330Arg)
c.3857A>G (p.Lys1286Arg)
 gnomAD v4
20g.32436722A>TCA408564253ASXL1c.4010A>T (p.Lys1337Met)
c.3827A>T (p.Lys1276Met)
n.6363A>T
c.1870-1708A>T (n.1870-1708A>T)
c.3995A>T (p.Lys1332Met)
c.4007A>T (p.Lys1336Met)
c.3980A>T (p.Lys1327Met)
c.3926A>T (p.Lys1309Met)
c.3326A>T (p.Lys1109Met)
c.4274A>T (p.Lys1425Met)
c.4271A>T (p.Lys1424Met)
c.4190A>T (p.Lys1397Met)
c.4121A>T (p.Lys1374Met)
c.3989A>T (p.Lys1330Met)
c.3857A>T (p.Lys1286Met)
20g.32436723G>ACA510467576ASXL1c.4011G>A (p.Lys1337=)
c.3828G>A (p.Lys1276=)
n.6364G>A
c.1870-1707G>A (n.1870-1707G>A)
c.3996G>A (p.Lys1332=)
c.4008G>A (p.Lys1336=)
c.3981G>A (p.Lys1327=)
c.3927G>A (p.Lys1309=)
c.3327G>A (p.Lys1109=)
c.4275G>A (p.Lys1425=)
c.4272G>A (p.Lys1424=)
c.4191G>A (p.Lys1397=)
c.4122G>A (p.Lys1374=)
c.3990G>A (p.Lys1330=)
c.3858G>A (p.Lys1286=)
20g.32436723G>CCA408564254ASXL1c.4011G>C (p.Lys1337Asn)
c.3828G>C (p.Lys1276Asn)
n.6364G>C
c.1870-1707G>C (n.1870-1707G>C)
c.3996G>C (p.Lys1332Asn)
c.4008G>C (p.Lys1336Asn)
c.3981G>C (p.Lys1327Asn)
c.3927G>C (p.Lys1309Asn)
c.3327G>C (p.Lys1109Asn)
c.4275G>C (p.Lys1425Asn)
c.4272G>C (p.Lys1424Asn)
c.4191G>C (p.Lys1397Asn)
c.4122G>C (p.Lys1374Asn)
c.3990G>C (p.Lys1330Asn)
c.3858G>C (p.Lys1286Asn)
20g.32436723G=CA2360293832ASXL1c.4011G= (p.Lys1337=)
c.3828G= (p.Lys1276=)
n.6364G=
c.1870-1707G= (n.1870-1707G=)
c.3996G= (p.Lys1332=)
c.4008G= (p.Lys1336=)
c.3981G= (p.Lys1327=)
c.3927G= (p.Lys1309=)
c.3327G= (p.Lys1109=)
c.4275G= (p.Lys1425=)
c.4272G= (p.Lys1424=)
c.4191G= (p.Lys1397=)
c.4122G= (p.Lys1374=)
c.3990G= (p.Lys1330=)
c.3858G= (p.Lys1286=)
20g.32436723G>TCA408564255ASXL1c.4011G>T (p.Lys1337Asn)
c.3828G>T (p.Lys1276Asn)
n.6364G>T
c.1870-1707G>T (n.1870-1707G>T)
c.3996G>T (p.Lys1332Asn)
c.4008G>T (p.Lys1336Asn)
c.3981G>T (p.Lys1327Asn)
c.3927G>T (p.Lys1309Asn)
c.3327G>T (p.Lys1109Asn)
c.4275G>T (p.Lys1425Asn)
c.4272G>T (p.Lys1424Asn)
c.4191G>T (p.Lys1397Asn)
c.4122G>T (p.Lys1374Asn)
c.3990G>T (p.Lys1330Asn)
c.3858G>T (p.Lys1286Asn)
 dbSNP
20g.32436724T>ACA408564256ASXL1c.4012T>A (p.Leu1338Met)
c.3829T>A (p.Leu1277Met)
n.6365T>A
c.1870-1706T>A (n.1870-1706T>A)
c.3997T>A (p.Leu1333Met)
c.4009T>A (p.Leu1337Met)
c.3982T>A (p.Leu1328Met)
c.3928T>A (p.Leu1310Met)
c.3328T>A (p.Leu1110Met)
c.4276T>A (p.Leu1426Met)
c.4273T>A (p.Leu1425Met)
c.4192T>A (p.Leu1398Met)
c.4123T>A (p.Leu1375Met)
c.3991T>A (p.Leu1331Met)
c.3859T>A (p.Leu1287Met)
20g.32436724T>CCA510467579ASXL1c.4012T>C (p.Leu1338=)
c.3829T>C (p.Leu1277=)
n.6365T>C
c.1870-1706T>C (n.1870-1706T>C)
c.3997T>C (p.Leu1333=)
c.4009T>C (p.Leu1337=)
c.3982T>C (p.Leu1328=)
c.3928T>C (p.Leu1310=)
c.3328T>C (p.Leu1110=)
c.4276T>C (p.Leu1426=)
c.4273T>C (p.Leu1425=)
c.4192T>C (p.Leu1398=)
c.4123T>C (p.Leu1375=)
c.3991T>C (p.Leu1331=)
c.3859T>C (p.Leu1287=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436724T>GCA408564257ASXL1c.4012T>G (p.Leu1338Val)
c.3829T>G (p.Leu1277Val)
n.6365T>G
c.1870-1706T>G (n.1870-1706T>G)
c.3997T>G (p.Leu1333Val)
c.4009T>G (p.Leu1337Val)
c.3982T>G (p.Leu1328Val)
c.3928T>G (p.Leu1310Val)
c.3328T>G (p.Leu1110Val)
c.4276T>G (p.Leu1426Val)
c.4273T>G (p.Leu1425Val)
c.4192T>G (p.Leu1398Val)
c.4123T>G (p.Leu1375Val)
c.3991T>G (p.Leu1331Val)
c.3859T>G (p.Leu1287Val)
20g.32436724T=CA2360293833ASXL1c.4012T= (p.Leu1338=)
c.3829T= (p.Leu1277=)
n.6365T=
c.1870-1706T= (n.1870-1706T=)
c.3997T= (p.Leu1333=)
c.4009T= (p.Leu1337=)
c.3982T= (p.Leu1328=)
c.3928T= (p.Leu1310=)
c.3328T= (p.Leu1110=)
c.4276T= (p.Leu1426=)
c.4273T= (p.Leu1425=)
c.4192T= (p.Leu1398=)
c.4123T= (p.Leu1375=)
c.3991T= (p.Leu1331=)
c.3859T= (p.Leu1287=)
20g.32436725dupCA2652401349ASXL1c.4013dup (p.Leu1338PhefsTer?)
c.3830dup (p.Leu1277PhefsTer?)
n.6366dup
c.1870-1705dup (n.1870-1705dup)
c.3998dup (p.Leu1333PhefsTer?)
c.4010dup (p.Leu1337PhefsTer?)
c.3983dup (p.Leu1328PhefsTer?)
c.3929dup (p.Leu1310PhefsTer?)
c.3329dup (p.Leu1110PhefsTer?)
c.4277dup (p.Leu1426PhefsTer?)
c.4274dup (p.Leu1425PhefsTer?)
c.4193dup (p.Leu1398PhefsTer?)
c.4124dup (p.Leu1375PhefsTer?)
c.3992dup (p.Leu1331PhefsTer?)
c.3860dup (p.Leu1287PhefsTer?)
 gnomAD v4
20g.32436725T>ACA408564258ASXL1c.4013T>A (p.Leu1338Ter)
c.3830T>A (p.Leu1277Ter)
n.6366T>A
c.1870-1705T>A (n.1870-1705T>A)
c.3998T>A (p.Leu1333Ter)
c.4010T>A (p.Leu1337Ter)
c.3983T>A (p.Leu1328Ter)
c.3929T>A (p.Leu1310Ter)
c.3329T>A (p.Leu1110Ter)
c.4277T>A (p.Leu1426Ter)
c.4274T>A (p.Leu1425Ter)
c.4193T>A (p.Leu1398Ter)
c.4124T>A (p.Leu1375Ter)
c.3992T>A (p.Leu1331Ter)
c.3860T>A (p.Leu1287Ter)
20g.32436725T>CCA408564259ASXL1c.4013T>C (p.Leu1338Ser)
c.3830T>C (p.Leu1277Ser)
n.6366T>C
c.1870-1705T>C (n.1870-1705T>C)
c.3998T>C (p.Leu1333Ser)
c.4010T>C (p.Leu1337Ser)
c.3983T>C (p.Leu1328Ser)
c.3929T>C (p.Leu1310Ser)
c.3329T>C (p.Leu1110Ser)
c.4277T>C (p.Leu1426Ser)
c.4274T>C (p.Leu1425Ser)
c.4193T>C (p.Leu1398Ser)
c.4124T>C (p.Leu1375Ser)
c.3992T>C (p.Leu1331Ser)
c.3860T>C (p.Leu1287Ser)
20g.32436725T>GCA408564260ASXL1c.4013T>G (p.Leu1338Trp)
c.3830T>G (p.Leu1277Trp)
n.6366T>G
c.1870-1705T>G (n.1870-1705T>G)
c.3998T>G (p.Leu1333Trp)
c.4010T>G (p.Leu1337Trp)
c.3983T>G (p.Leu1328Trp)
c.3929T>G (p.Leu1310Trp)
c.3329T>G (p.Leu1110Trp)
c.4277T>G (p.Leu1426Trp)
c.4274T>G (p.Leu1425Trp)
c.4193T>G (p.Leu1398Trp)
c.4124T>G (p.Leu1375Trp)
c.3992T>G (p.Leu1331Trp)
c.3860T>G (p.Leu1287Trp)
20g.32436726G>ACA510467581ASXL1c.4014G>A (p.Leu1338=)
c.3831G>A (p.Leu1277=)
n.6367G>A
c.1870-1704G>A (n.1870-1704G>A)
c.3999G>A (p.Leu1333=)
c.4011G>A (p.Leu1337=)
c.3984G>A (p.Leu1328=)
c.3930G>A (p.Leu1310=)
c.3330G>A (p.Leu1110=)
c.4278G>A (p.Leu1426=)
c.4275G>A (p.Leu1425=)
c.4194G>A (p.Leu1398=)
c.4125G>A (p.Leu1375=)
c.3993G>A (p.Leu1331=)
c.3861G>A (p.Leu1287=)
 dbSNP gnomAD v4
20g.32436726G>CCA408564261ASXL1c.4014G>C (p.Leu1338Phe)
c.3831G>C (p.Leu1277Phe)
n.6367G>C
c.1870-1704G>C (n.1870-1704G>C)
c.3999G>C (p.Leu1333Phe)
c.4011G>C (p.Leu1337Phe)
c.3984G>C (p.Leu1328Phe)
c.3930G>C (p.Leu1310Phe)
c.3330G>C (p.Leu1110Phe)
c.4278G>C (p.Leu1426Phe)
c.4275G>C (p.Leu1425Phe)
c.4194G>C (p.Leu1398Phe)
c.4125G>C (p.Leu1375Phe)
c.3993G>C (p.Leu1331Phe)
c.3861G>C (p.Leu1287Phe)
20g.32436726G>TCA408564262ASXL1c.4014G>T (p.Leu1338Phe)
c.3831G>T (p.Leu1277Phe)
n.6367G>T
c.1870-1704G>T (n.1870-1704G>T)
c.3999G>T (p.Leu1333Phe)
c.4011G>T (p.Leu1337Phe)
c.3984G>T (p.Leu1328Phe)
c.3930G>T (p.Leu1310Phe)
c.3330G>T (p.Leu1110Phe)
c.4278G>T (p.Leu1426Phe)
c.4275G>T (p.Leu1425Phe)
c.4194G>T (p.Leu1398Phe)
c.4125G>T (p.Leu1375Phe)
c.3993G>T (p.Leu1331Phe)
c.3861G>T (p.Leu1287Phe)
20g.32436727G>ACA9808946ASXL1c.4015G>A (p.Gly1339Arg)
c.3832G>A (p.Gly1278Arg)
n.6368G>A
c.1870-1703G>A (n.1870-1703G>A)
c.4000G>A (p.Gly1334Arg)
c.4012G>A (p.Gly1338Arg)
c.3985G>A (p.Gly1329Arg)
c.3931G>A (p.Gly1311Arg)
c.3331G>A (p.Gly1111Arg)
c.4279G>A (p.Gly1427Arg)
c.4276G>A (p.Gly1426Arg)
c.4195G>A (p.Gly1399Arg)
c.4126G>A (p.Gly1376Arg)
c.3994G>A (p.Gly1332Arg)
c.3862G>A (p.Gly1288Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436727G>CCA408564264ASXL1c.4015G>C (p.Gly1339Arg)
c.3832G>C (p.Gly1278Arg)
n.6368G>C
c.1870-1703G>C (n.1870-1703G>C)
c.4000G>C (p.Gly1334Arg)
c.4012G>C (p.Gly1338Arg)
c.3985G>C (p.Gly1329Arg)
c.3931G>C (p.Gly1311Arg)
c.3331G>C (p.Gly1111Arg)
c.4279G>C (p.Gly1427Arg)
c.4276G>C (p.Gly1426Arg)
c.4195G>C (p.Gly1399Arg)
c.4126G>C (p.Gly1376Arg)
c.3994G>C (p.Gly1332Arg)
c.3862G>C (p.Gly1288Arg)
20g.32436727G=CA2360293834ASXL1c.4015G= (p.Gly1339=)
c.3832G= (p.Gly1278=)
n.6368G=
c.1870-1703G= (n.1870-1703G=)
c.4000G= (p.Gly1334=)
c.4012G= (p.Gly1338=)
c.3985G= (p.Gly1329=)
c.3931G= (p.Gly1311=)
c.3331G= (p.Gly1111=)
c.4279G= (p.Gly1427=)
c.4276G= (p.Gly1426=)
c.4195G= (p.Gly1399=)
c.4126G= (p.Gly1376=)
c.3994G= (p.Gly1332=)
c.3862G= (p.Gly1288=)
20g.32436727G>TCA408564263ASXL1c.4015G>T (p.Gly1339Ter)
c.3832G>T (p.Gly1278Ter)
n.6368G>T
c.1870-1703G>T (n.1870-1703G>T)
c.4000G>T (p.Gly1334Ter)
c.4012G>T (p.Gly1338Ter)
c.3985G>T (p.Gly1329Ter)
c.3931G>T (p.Gly1311Ter)
c.3331G>T (p.Gly1111Ter)
c.4279G>T (p.Gly1427Ter)
c.4276G>T (p.Gly1426Ter)
c.4195G>T (p.Gly1399Ter)
c.4126G>T (p.Gly1376Ter)
c.3994G>T (p.Gly1332Ter)
c.3862G>T (p.Gly1288Ter)
20g.32436728G>ACA9808947ASXL1c.4016G>A (p.Gly1339Glu)
c.3833G>A (p.Gly1278Glu)
n.6369G>A
c.1870-1702G>A (n.1870-1702G>A)
c.4001G>A (p.Gly1334Glu)
c.4013G>A (p.Gly1338Glu)
c.3986G>A (p.Gly1329Glu)
c.3932G>A (p.Gly1311Glu)
c.3332G>A (p.Gly1111Glu)
c.4280G>A (p.Gly1427Glu)
c.4277G>A (p.Gly1426Glu)
c.4196G>A (p.Gly1399Glu)
c.4127G>A (p.Gly1376Glu)
c.3995G>A (p.Gly1332Glu)
c.3863G>A (p.Gly1288Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
20g.32436728G>CCA408564265ASXL1c.4016G>C (p.Gly1339Ala)
c.3833G>C (p.Gly1278Ala)
n.6369G>C
c.1870-1702G>C (n.1870-1702G>C)
c.4001G>C (p.Gly1334Ala)
c.4013G>C (p.Gly1338Ala)
c.3986G>C (p.Gly1329Ala)
c.3932G>C (p.Gly1311Ala)
c.3332G>C (p.Gly1111Ala)
c.4280G>C (p.Gly1427Ala)
c.4277G>C (p.Gly1426Ala)
c.4196G>C (p.Gly1399Ala)
c.4127G>C (p.Gly1376Ala)
c.3995G>C (p.Gly1332Ala)
c.3863G>C (p.Gly1288Ala)
 dbSNP
20g.32436728G=CA2360293835ASXL1c.4016G= (p.Gly1339=)
c.3833G= (p.Gly1278=)
n.6369G=
c.1870-1702G= (n.1870-1702G=)
c.4001G= (p.Gly1334=)
c.4013G= (p.Gly1338=)
c.3986G= (p.Gly1329=)
c.3932G= (p.Gly1311=)
c.3332G= (p.Gly1111=)
c.4280G= (p.Gly1427=)
c.4277G= (p.Gly1426=)
c.4196G= (p.Gly1399=)
c.4127G= (p.Gly1376=)
c.3995G= (p.Gly1332=)
c.3863G= (p.Gly1288=)
20g.32436728G>TCA408564266ASXL1c.4016G>T (p.Gly1339Val)
c.3833G>T (p.Gly1278Val)
n.6369G>T
c.1870-1702G>T (n.1870-1702G>T)
c.4001G>T (p.Gly1334Val)
c.4013G>T (p.Gly1338Val)
c.3986G>T (p.Gly1329Val)
c.3932G>T (p.Gly1311Val)
c.3332G>T (p.Gly1111Val)
c.4280G>T (p.Gly1427Val)
c.4277G>T (p.Gly1426Val)
c.4196G>T (p.Gly1399Val)
c.4127G>T (p.Gly1376Val)
c.3995G>T (p.Gly1332Val)
c.3863G>T (p.Gly1288Val)
20g.32436729A>CCA510467585ASXL1c.4017A>C (p.Gly1339=)
c.3834A>C (p.Gly1278=)
n.6370A>C
c.1870-1701A>C (n.1870-1701A>C)
c.4002A>C (p.Gly1334=)
c.4014A>C (p.Gly1338=)
c.3987A>C (p.Gly1329=)
c.3933A>C (p.Gly1311=)
c.3333A>C (p.Gly1111=)
c.4281A>C (p.Gly1427=)
c.4278A>C (p.Gly1426=)
c.4197A>C (p.Gly1399=)
c.4128A>C (p.Gly1376=)
c.3996A>C (p.Gly1332=)
c.3864A>C (p.Gly1288=)
20g.32436729A>GCA510467586ASXL1c.4017A>G (p.Gly1339=)
c.3834A>G (p.Gly1278=)
n.6370A>G
c.1870-1701A>G (n.1870-1701A>G)
c.4002A>G (p.Gly1334=)
c.4014A>G (p.Gly1338=)
c.3987A>G (p.Gly1329=)
c.3933A>G (p.Gly1311=)
c.3333A>G (p.Gly1111=)
c.4281A>G (p.Gly1427=)
c.4278A>G (p.Gly1426=)
c.4197A>G (p.Gly1399=)
c.4128A>G (p.Gly1376=)
c.3996A>G (p.Gly1332=)
c.3864A>G (p.Gly1288=)
20g.32436729A>TCA510467587ASXL1c.4017A>T (p.Gly1339=)
c.3834A>T (p.Gly1278=)
n.6370A>T
c.1870-1701A>T (n.1870-1701A>T)
c.4002A>T (p.Gly1334=)
c.4014A>T (p.Gly1338=)
c.3987A>T (p.Gly1329=)
c.3933A>T (p.Gly1311=)
c.3333A>T (p.Gly1111=)
c.4281A>T (p.Gly1427=)
c.4278A>T (p.Gly1426=)
c.4197A>T (p.Gly1399=)
c.4128A>T (p.Gly1376=)
c.3996A>T (p.Gly1332=)
c.3864A>T (p.Gly1288=)
 dbSNP
20g.32436730C>ACA9808948ASXL1c.4018C>A (p.Pro1340Thr)
c.3835C>A (p.Pro1279Thr)
n.6371C>A
c.1870-1700C>A (n.1870-1700C>A)
c.4003C>A (p.Pro1335Thr)
c.4015C>A (p.Pro1339Thr)
c.3988C>A (p.Pro1330Thr)
c.3934C>A (p.Pro1312Thr)
c.3334C>A (p.Pro1112Thr)
c.4282C>A (p.Pro1428Thr)
c.4279C>A (p.Pro1427Thr)
c.4198C>A (p.Pro1400Thr)
c.4129C>A (p.Pro1377Thr)
c.3997C>A (p.Pro1333Thr)
c.3865C>A (p.Pro1289Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436730C=CA2360293836ASXL1c.4018C= (p.Pro1340=)
c.3835C= (p.Pro1279=)
n.6371C=
c.1870-1700C= (n.1870-1700C=)
c.4003C= (p.Pro1335=)
c.4015C= (p.Pro1339=)
c.3988C= (p.Pro1330=)
c.3934C= (p.Pro1312=)
c.3334C= (p.Pro1112=)
c.4282C= (p.Pro1428=)
c.4279C= (p.Pro1427=)
c.4198C= (p.Pro1400=)
c.4129C= (p.Pro1377=)
c.3997C= (p.Pro1333=)
c.3865C= (p.Pro1289=)
20g.32436730C>GCA408564267ASXL1c.4018C>G (p.Pro1340Ala)
c.3835C>G (p.Pro1279Ala)
n.6371C>G
c.1870-1700C>G (n.1870-1700C>G)
c.4003C>G (p.Pro1335Ala)
c.4015C>G (p.Pro1339Ala)
c.3988C>G (p.Pro1330Ala)
c.3934C>G (p.Pro1312Ala)
c.3334C>G (p.Pro1112Ala)
c.4282C>G (p.Pro1428Ala)
c.4279C>G (p.Pro1427Ala)
c.4198C>G (p.Pro1400Ala)
c.4129C>G (p.Pro1377Ala)
c.3997C>G (p.Pro1333Ala)
c.3865C>G (p.Pro1289Ala)
20g.32436730C>TCA408564268ASXL1c.4018C>T (p.Pro1340Ser)
c.3835C>T (p.Pro1279Ser)
n.6371C>T
c.1870-1700C>T (n.1870-1700C>T)
c.4003C>T (p.Pro1335Ser)
c.4015C>T (p.Pro1339Ser)
c.3988C>T (p.Pro1330Ser)
c.3934C>T (p.Pro1312Ser)
c.3334C>T (p.Pro1112Ser)
c.4282C>T (p.Pro1428Ser)
c.4279C>T (p.Pro1427Ser)
c.4198C>T (p.Pro1400Ser)
c.4129C>T (p.Pro1377Ser)
c.3997C>T (p.Pro1333Ser)
c.3865C>T (p.Pro1289Ser)
20g.32436731C>ACA408564269ASXL1c.4019C>A (p.Pro1340Gln)
c.3836C>A (p.Pro1279Gln)
n.6372C>A
c.1870-1699C>A (n.1870-1699C>A)
c.4004C>A (p.Pro1335Gln)
c.4016C>A (p.Pro1339Gln)
c.3989C>A (p.Pro1330Gln)
c.3935C>A (p.Pro1312Gln)
c.3335C>A (p.Pro1112Gln)
c.4283C>A (p.Pro1428Gln)
c.4280C>A (p.Pro1427Gln)
c.4199C>A (p.Pro1400Gln)
c.4130C>A (p.Pro1377Gln)
c.3998C>A (p.Pro1333Gln)
c.3866C>A (p.Pro1289Gln)
20g.32436731C=CA2360293837ASXL1c.4019C= (p.Pro1340=)
c.3836C= (p.Pro1279=)
n.6372C=
c.1870-1699C= (n.1870-1699C=)
c.4004C= (p.Pro1335=)
c.4016C= (p.Pro1339=)
c.3989C= (p.Pro1330=)
c.3935C= (p.Pro1312=)
c.3335C= (p.Pro1112=)
c.4283C= (p.Pro1428=)
c.4280C= (p.Pro1427=)
c.4199C= (p.Pro1400=)
c.4130C= (p.Pro1377=)
c.3998C= (p.Pro1333=)
c.3866C= (p.Pro1289=)
20g.32436731C>GCA408564270ASXL1c.4019C>G (p.Pro1340Arg)
c.3836C>G (p.Pro1279Arg)
n.6372C>G
c.1870-1699C>G (n.1870-1699C>G)
c.4004C>G (p.Pro1335Arg)
c.4016C>G (p.Pro1339Arg)
c.3989C>G (p.Pro1330Arg)
c.3935C>G (p.Pro1312Arg)
c.3335C>G (p.Pro1112Arg)
c.4283C>G (p.Pro1428Arg)
c.4280C>G (p.Pro1427Arg)
c.4199C>G (p.Pro1400Arg)
c.4130C>G (p.Pro1377Arg)
c.3998C>G (p.Pro1333Arg)
c.3866C>G (p.Pro1289Arg)
20g.32436731C>TCA408564271ASXL1c.4019C>T (p.Pro1340Leu)
c.3836C>T (p.Pro1279Leu)
n.6372C>T
c.1870-1699C>T (n.1870-1699C>T)
c.4004C>T (p.Pro1335Leu)
c.4016C>T (p.Pro1339Leu)
c.3989C>T (p.Pro1330Leu)
c.3935C>T (p.Pro1312Leu)
c.3335C>T (p.Pro1112Leu)
c.4283C>T (p.Pro1428Leu)
c.4280C>T (p.Pro1427Leu)
c.4199C>T (p.Pro1400Leu)
c.4130C>T (p.Pro1377Leu)
c.3998C>T (p.Pro1333Leu)
c.3866C>T (p.Pro1289Leu)
 dbSNP gnomAD v2 gnomAD v4
20g.32436732A=CA2360293838ASXL1c.4020A= (p.Pro1340=)
c.3837A= (p.Pro1279=)
n.6373A=
c.1870-1698A= (n.1870-1698A=)
c.4005A= (p.Pro1335=)
c.4017A= (p.Pro1339=)
c.3990A= (p.Pro1330=)
c.3936A= (p.Pro1312=)
c.3336A= (p.Pro1112=)
c.4284A= (p.Pro1428=)
c.4281A= (p.Pro1427=)
c.4200A= (p.Pro1400=)
c.4131A= (p.Pro1377=)
c.3999A= (p.Pro1333=)
c.3867A= (p.Pro1289=)
20g.32436732A>CCA510467589ASXL1c.4020A>C (p.Pro1340=)
c.3837A>C (p.Pro1279=)
n.6373A>C
c.1870-1698A>C (n.1870-1698A>C)
c.4005A>C (p.Pro1335=)
c.4017A>C (p.Pro1339=)
c.3990A>C (p.Pro1330=)
c.3936A>C (p.Pro1312=)
c.3336A>C (p.Pro1112=)
c.4284A>C (p.Pro1428=)
c.4281A>C (p.Pro1427=)
c.4200A>C (p.Pro1400=)
c.4131A>C (p.Pro1377=)
c.3999A>C (p.Pro1333=)
c.3867A>C (p.Pro1289=)
20g.32436732A>GCA510467590ASXL1c.4020A>G (p.Pro1340=)
c.3837A>G (p.Pro1279=)
n.6373A>G
c.1870-1698A>G (n.1870-1698A>G)
c.4005A>G (p.Pro1335=)
c.4017A>G (p.Pro1339=)
c.3990A>G (p.Pro1330=)
c.3936A>G (p.Pro1312=)
c.3336A>G (p.Pro1112=)
c.4284A>G (p.Pro1428=)
c.4281A>G (p.Pro1427=)
c.4200A>G (p.Pro1400=)
c.4131A>G (p.Pro1377=)
c.3999A>G (p.Pro1333=)
c.3867A>G (p.Pro1289=)
 dbSNP gnomAD v4
20g.32436732A>TCA510467591ASXL1c.4020A>T (p.Pro1340=)
c.3837A>T (p.Pro1279=)
n.6373A>T
c.1870-1698A>T (n.1870-1698A>T)
c.4005A>T (p.Pro1335=)
c.4017A>T (p.Pro1339=)
c.3990A>T (p.Pro1330=)
c.3936A>T (p.Pro1312=)
c.3336A>T (p.Pro1112=)
c.4284A>T (p.Pro1428=)
c.4281A>T (p.Pro1427=)
c.4200A>T (p.Pro1400=)
c.4131A>T (p.Pro1377=)
c.3999A>T (p.Pro1333=)
c.3867A>T (p.Pro1289=)
 ClinVar
20g.32436733A=CA2360293839ASXL1c.4021A= (p.Ser1341=)
c.3838A= (p.Ser1280=)
n.6374A=
c.1870-1697A= (n.1870-1697A=)
c.4006A= (p.Ser1336=)
c.4018A= (p.Ser1340=)
c.3991A= (p.Ser1331=)
c.3937A= (p.Ser1313=)
c.3337A= (p.Ser1113=)
c.4285A= (p.Ser1429=)
c.4282A= (p.Ser1428=)
c.4201A= (p.Ser1401=)
c.4132A= (p.Ser1378=)
c.4000A= (p.Ser1334=)
c.3868A= (p.Ser1290=)
20g.32436733A>CCA9808949ASXL1c.4021A>C (p.Ser1341Arg)
c.3838A>C (p.Ser1280Arg)
n.6374A>C
c.1870-1697A>C (n.1870-1697A>C)
c.4006A>C (p.Ser1336Arg)
c.4018A>C (p.Ser1340Arg)
c.3991A>C (p.Ser1331Arg)
c.3937A>C (p.Ser1313Arg)
c.3337A>C (p.Ser1113Arg)
c.4285A>C (p.Ser1429Arg)
c.4282A>C (p.Ser1428Arg)
c.4201A>C (p.Ser1401Arg)
c.4132A>C (p.Ser1378Arg)
c.4000A>C (p.Ser1334Arg)
c.3868A>C (p.Ser1290Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436733A>GCA408564273ASXL1c.4021A>G (p.Ser1341Gly)
c.3838A>G (p.Ser1280Gly)
n.6374A>G
c.1870-1697A>G (n.1870-1697A>G)
c.4006A>G (p.Ser1336Gly)
c.4018A>G (p.Ser1340Gly)
c.3991A>G (p.Ser1331Gly)
c.3937A>G (p.Ser1313Gly)
c.3337A>G (p.Ser1113Gly)
c.4285A>G (p.Ser1429Gly)
c.4282A>G (p.Ser1428Gly)
c.4201A>G (p.Ser1401Gly)
c.4132A>G (p.Ser1378Gly)
c.4000A>G (p.Ser1334Gly)
c.3868A>G (p.Ser1290Gly)
 dbSNP
20g.32436733A>TCA408564272ASXL1c.4021A>T (p.Ser1341Cys)
c.3838A>T (p.Ser1280Cys)
n.6374A>T
c.1870-1697A>T (n.1870-1697A>T)
c.4006A>T (p.Ser1336Cys)
c.4018A>T (p.Ser1340Cys)
c.3991A>T (p.Ser1331Cys)
c.3937A>T (p.Ser1313Cys)
c.3337A>T (p.Ser1113Cys)
c.4285A>T (p.Ser1429Cys)
c.4282A>T (p.Ser1428Cys)
c.4201A>T (p.Ser1401Cys)
c.4132A>T (p.Ser1378Cys)
c.4000A>T (p.Ser1334Cys)
c.3868A>T (p.Ser1290Cys)
 dbSNP
20g.32436734G>ACA9808950ASXL1c.4022G>A (p.Ser1341Asn)
c.3839G>A (p.Ser1280Asn)
n.6375G>A
c.1870-1696G>A (n.1870-1696G>A)
c.4007G>A (p.Ser1336Asn)
c.4019G>A (p.Ser1340Asn)
c.3992G>A (p.Ser1331Asn)
c.3938G>A (p.Ser1313Asn)
c.3338G>A (p.Ser1113Asn)
c.4286G>A (p.Ser1429Asn)
c.4283G>A (p.Ser1428Asn)
c.4202G>A (p.Ser1401Asn)
c.4133G>A (p.Ser1378Asn)
c.4001G>A (p.Ser1334Asn)
c.3869G>A (p.Ser1290Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
20g.32436734G>CCA408564274ASXL1c.4022G>C (p.Ser1341Thr)
c.3839G>C (p.Ser1280Thr)
n.6375G>C
c.1870-1696G>C (n.1870-1696G>C)
c.4007G>C (p.Ser1336Thr)
c.4019G>C (p.Ser1340Thr)
c.3992G>C (p.Ser1331Thr)
c.3938G>C (p.Ser1313Thr)
c.3338G>C (p.Ser1113Thr)
c.4286G>C (p.Ser1429Thr)
c.4283G>C (p.Ser1428Thr)
c.4202G>C (p.Ser1401Thr)
c.4133G>C (p.Ser1378Thr)
c.4001G>C (p.Ser1334Thr)
c.3869G>C (p.Ser1290Thr)
 gnomAD v4
20g.32436734G=CA2360293840ASXL1c.4022G= (p.Ser1341=)
c.3839G= (p.Ser1280=)
n.6375G=
c.1870-1696G= (n.1870-1696G=)
c.4007G= (p.Ser1336=)
c.4019G= (p.Ser1340=)
c.3992G= (p.Ser1331=)
c.3938G= (p.Ser1313=)
c.3338G= (p.Ser1113=)
c.4286G= (p.Ser1429=)
c.4283G= (p.Ser1428=)
c.4202G= (p.Ser1401=)
c.4133G= (p.Ser1378=)
c.4001G= (p.Ser1334=)
c.3869G= (p.Ser1290=)
20g.32436734G>TCA408564275ASXL1c.4022G>T (p.Ser1341Ile)
c.3839G>T (p.Ser1280Ile)
n.6375G>T
c.1870-1696G>T (n.1870-1696G>T)
c.4007G>T (p.Ser1336Ile)
c.4019G>T (p.Ser1340Ile)
c.3992G>T (p.Ser1331Ile)
c.3938G>T (p.Ser1313Ile)
c.3338G>T (p.Ser1113Ile)
c.4286G>T (p.Ser1429Ile)
c.4283G>T (p.Ser1428Ile)
c.4202G>T (p.Ser1401Ile)
c.4133G>T (p.Ser1378Ile)
c.4001G>T (p.Ser1334Ile)
c.3869G>T (p.Ser1290Ile)
20g.32436735C>ACA408564276ASXL1c.4023C>A (p.Ser1341Arg)
c.3840C>A (p.Ser1280Arg)
n.6376C>A
c.1870-1695C>A (n.1870-1695C>A)
c.4008C>A (p.Ser1336Arg)
c.4020C>A (p.Ser1340Arg)
c.3993C>A (p.Ser1331Arg)
c.3939C>A (p.Ser1313Arg)
c.3339C>A (p.Ser1113Arg)
c.4287C>A (p.Ser1429Arg)
c.4284C>A (p.Ser1428Arg)
c.4203C>A (p.Ser1401Arg)
c.4134C>A (p.Ser1378Arg)
c.4002C>A (p.Ser1334Arg)
c.3870C>A (p.Ser1290Arg)
 dbSNP
20g.32436735C=CA2360293841ASXL1c.4023C= (p.Ser1341=)
c.3840C= (p.Ser1280=)
n.6376C=
c.1870-1695C= (n.1870-1695C=)
c.4008C= (p.Ser1336=)
c.4020C= (p.Ser1340=)
c.3993C= (p.Ser1331=)
c.3939C= (p.Ser1313=)
c.3339C= (p.Ser1113=)
c.4287C= (p.Ser1429=)
c.4284C= (p.Ser1428=)
c.4203C= (p.Ser1401=)
c.4134C= (p.Ser1378=)
c.4002C= (p.Ser1334=)
c.3870C= (p.Ser1290=)
20g.32436735C>GCA408564277ASXL1c.4023C>G (p.Ser1341Arg)
c.3840C>G (p.Ser1280Arg)
n.6376C>G
c.1870-1695C>G (n.1870-1695C>G)
c.4008C>G (p.Ser1336Arg)
c.4020C>G (p.Ser1340Arg)
c.3993C>G (p.Ser1331Arg)
c.3939C>G (p.Ser1313Arg)
c.3339C>G (p.Ser1113Arg)
c.4287C>G (p.Ser1429Arg)
c.4284C>G (p.Ser1428Arg)
c.4203C>G (p.Ser1401Arg)
c.4134C>G (p.Ser1378Arg)
c.4002C>G (p.Ser1334Arg)
c.3870C>G (p.Ser1290Arg)
 gnomAD v4
20g.32436735C>TCA510467593ASXL1c.4023C>T (p.Ser1341=)
c.3840C>T (p.Ser1280=)
n.6376C>T
c.1870-1695C>T (n.1870-1695C>T)
c.4008C>T (p.Ser1336=)
c.4020C>T (p.Ser1340=)
c.3993C>T (p.Ser1331=)
c.3939C>T (p.Ser1313=)
c.3339C>T (p.Ser1113=)
c.4287C>T (p.Ser1429=)
c.4284C>T (p.Ser1428=)
c.4203C>T (p.Ser1401=)
c.4134C>T (p.Ser1378=)
c.4002C>T (p.Ser1334=)
c.3870C>T (p.Ser1290=)
 dbSNP gnomAD v4
20g.32436736A>CCA408564280ASXL1c.4024A>C (p.Thr1342Pro)
c.3841A>C (p.Thr1281Pro)
n.6377A>C
c.1870-1694A>C (n.1870-1694A>C)
c.4009A>C (p.Thr1337Pro)
c.4021A>C (p.Thr1341Pro)
c.3994A>C (p.Thr1332Pro)
c.3940A>C (p.Thr1314Pro)
c.3340A>C (p.Thr1114Pro)
c.4288A>C (p.Thr1430Pro)
c.4285A>C (p.Thr1429Pro)
c.4204A>C (p.Thr1402Pro)
c.4135A>C (p.Thr1379Pro)
c.4003A>C (p.Thr1335Pro)
c.3871A>C (p.Thr1291Pro)
20g.32436736A>GCA408564279ASXL1c.4024A>G (p.Thr1342Ala)
c.3841A>G (p.Thr1281Ala)
n.6377A>G
c.1870-1694A>G (n.1870-1694A>G)
c.4009A>G (p.Thr1337Ala)
c.4021A>G (p.Thr1341Ala)
c.3994A>G (p.Thr1332Ala)
c.3940A>G (p.Thr1314Ala)
c.3340A>G (p.Thr1114Ala)
c.4288A>G (p.Thr1430Ala)
c.4285A>G (p.Thr1429Ala)
c.4204A>G (p.Thr1402Ala)
c.4135A>G (p.Thr1379Ala)
c.4003A>G (p.Thr1335Ala)
c.3871A>G (p.Thr1291Ala)
20g.32436736A>TCA408564278ASXL1c.4024A>T (p.Thr1342Ser)
c.3841A>T (p.Thr1281Ser)
n.6377A>T
c.1870-1694A>T (n.1870-1694A>T)
c.4009A>T (p.Thr1337Ser)
c.4021A>T (p.Thr1341Ser)
c.3994A>T (p.Thr1332Ser)
c.3940A>T (p.Thr1314Ser)
c.3340A>T (p.Thr1114Ser)
c.4288A>T (p.Thr1430Ser)
c.4285A>T (p.Thr1429Ser)
c.4204A>T (p.Thr1402Ser)
c.4135A>T (p.Thr1379Ser)
c.4003A>T (p.Thr1335Ser)
c.3871A>T (p.Thr1291Ser)
20g.32436737C>ACA408564281ASXL1c.4025C>A (p.Thr1342Lys)
c.3842C>A (p.Thr1281Lys)
n.6378C>A
c.1870-1693C>A (n.1870-1693C>A)
c.4010C>A (p.Thr1337Lys)
c.4022C>A (p.Thr1341Lys)
c.3995C>A (p.Thr1332Lys)
c.3941C>A (p.Thr1314Lys)
c.3341C>A (p.Thr1114Lys)
c.4289C>A (p.Thr1430Lys)
c.4286C>A (p.Thr1429Lys)
c.4205C>A (p.Thr1402Lys)
c.4136C>A (p.Thr1379Lys)
c.4004C>A (p.Thr1335Lys)
c.3872C>A (p.Thr1291Lys)
20g.32436737C>GCA408564282ASXL1c.4025C>G (p.Thr1342Arg)
c.3842C>G (p.Thr1281Arg)
n.6378C>G
c.1870-1693C>G (n.1870-1693C>G)
c.4010C>G (p.Thr1337Arg)
c.4022C>G (p.Thr1341Arg)
c.3995C>G (p.Thr1332Arg)
c.3941C>G (p.Thr1314Arg)
c.3341C>G (p.Thr1114Arg)
c.4289C>G (p.Thr1430Arg)
c.4286C>G (p.Thr1429Arg)
c.4205C>G (p.Thr1402Arg)
c.4136C>G (p.Thr1379Arg)
c.4004C>G (p.Thr1335Arg)
c.3872C>G (p.Thr1291Arg)
20g.32436737C>TCA408564283ASXL1c.4025C>T (p.Thr1342Ile)
c.3842C>T (p.Thr1281Ile)
n.6378C>T
c.1870-1693C>T (n.1870-1693C>T)
c.4010C>T (p.Thr1337Ile)
c.4022C>T (p.Thr1341Ile)
c.3995C>T (p.Thr1332Ile)
c.3941C>T (p.Thr1314Ile)
c.3341C>T (p.Thr1114Ile)
c.4289C>T (p.Thr1430Ile)
c.4286C>T (p.Thr1429Ile)
c.4205C>T (p.Thr1402Ile)
c.4136C>T (p.Thr1379Ile)
c.4004C>T (p.Thr1335Ile)
c.3872C>T (p.Thr1291Ile)
 gnomAD v4
20g.32436738A=CA2360293842ASXL1c.4026A= (p.Thr1342=)
c.3843A= (p.Thr1281=)
n.6379A=
c.1870-1692A= (n.1870-1692A=)
c.4011A= (p.Thr1337=)
c.4023A= (p.Thr1341=)
c.3996A= (p.Thr1332=)
c.3942A= (p.Thr1314=)
c.3342A= (p.Thr1114=)
c.4290A= (p.Thr1430=)
c.4287A= (p.Thr1429=)
c.4206A= (p.Thr1402=)
c.4137A= (p.Thr1379=)
c.4005A= (p.Thr1335=)
c.3873A= (p.Thr1291=)
20g.32436738A>CCA510467594ASXL1c.4026A>C (p.Thr1342=)
c.3843A>C (p.Thr1281=)
n.6379A>C
c.1870-1692A>C (n.1870-1692A>C)
c.4011A>C (p.Thr1337=)
c.4023A>C (p.Thr1341=)
c.3996A>C (p.Thr1332=)
c.3942A>C (p.Thr1314=)
c.3342A>C (p.Thr1114=)
c.4290A>C (p.Thr1430=)
c.4287A>C (p.Thr1429=)
c.4206A>C (p.Thr1402=)
c.4137A>C (p.Thr1379=)
c.4005A>C (p.Thr1335=)
c.3873A>C (p.Thr1291=)
20g.32436738A>GCA510467595ASXL1c.4026A>G (p.Thr1342=)
c.3843A>G (p.Thr1281=)
n.6379A>G
c.1870-1692A>G (n.1870-1692A>G)
c.4011A>G (p.Thr1337=)
c.4023A>G (p.Thr1341=)
c.3996A>G (p.Thr1332=)
c.3942A>G (p.Thr1314=)
c.3342A>G (p.Thr1114=)
c.4290A>G (p.Thr1430=)
c.4287A>G (p.Thr1429=)
c.4206A>G (p.Thr1402=)
c.4137A>G (p.Thr1379=)
c.4005A>G (p.Thr1335=)
c.3873A>G (p.Thr1291=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436738A>TCA510467596ASXL1c.4026A>T (p.Thr1342=)
c.3843A>T (p.Thr1281=)
n.6379A>T
c.1870-1692A>T (n.1870-1692A>T)
c.4011A>T (p.Thr1337=)
c.4023A>T (p.Thr1341=)
c.3996A>T (p.Thr1332=)
c.3942A>T (p.Thr1314=)
c.3342A>T (p.Thr1114=)
c.4290A>T (p.Thr1430=)
c.4287A>T (p.Thr1429=)
c.4206A>T (p.Thr1402=)
c.4137A>T (p.Thr1379=)
c.4005A>T (p.Thr1335=)
c.3873A>T (p.Thr1291=)
20g.32436740dupCA2652401373ASXL1c.4028dup (p.Asn1343LysfsTer28)
c.3845dup (p.Asn1282LysfsTer28)
n.6381dup
c.1870-1690dup (n.1870-1690dup)
c.4013dup (p.Asn1338LysfsTer28)
c.4025dup (p.Asn1342LysfsTer28)
c.3998dup (p.Asn1333LysfsTer28)
c.3944dup (p.Asn1315LysfsTer28)
c.3344dup (p.Asn1115LysfsTer28)
c.4292dup (p.Asn1431LysfsTer28)
c.4289dup (p.Asn1430LysfsTer28)
c.4208dup (p.Asn1403LysfsTer28)
c.4139dup (p.Asn1380LysfsTer28)
c.4007dup (p.Asn1336LysfsTer28)
c.3875dup (p.Asn1292LysfsTer28)
 gnomAD v4
20g.32436739A>CCA408564284ASXL1c.4027A>C (p.Asn1343His)
c.3844A>C (p.Asn1282His)
n.6380A>C
c.1870-1691A>C (n.1870-1691A>C)
c.4012A>C (p.Asn1338His)
c.4024A>C (p.Asn1342His)
c.3997A>C (p.Asn1333His)
c.3943A>C (p.Asn1315His)
c.3343A>C (p.Asn1115His)
c.4291A>C (p.Asn1431His)
c.4288A>C (p.Asn1430His)
c.4207A>C (p.Asn1403His)
c.4138A>C (p.Asn1380His)
c.4006A>C (p.Asn1336His)
c.3874A>C (p.Asn1292His)
20g.32436739A>GCA408564285ASXL1c.4027A>G (p.Asn1343Asp)
c.3844A>G (p.Asn1282Asp)
n.6380A>G
c.1870-1691A>G (n.1870-1691A>G)
c.4012A>G (p.Asn1338Asp)
c.4024A>G (p.Asn1342Asp)
c.3997A>G (p.Asn1333Asp)
c.3943A>G (p.Asn1315Asp)
c.3343A>G (p.Asn1115Asp)
c.4291A>G (p.Asn1431Asp)
c.4288A>G (p.Asn1430Asp)
c.4207A>G (p.Asn1403Asp)
c.4138A>G (p.Asn1380Asp)
c.4006A>G (p.Asn1336Asp)
c.3874A>G (p.Asn1292Asp)
20g.32436739A>TCA408564286ASXL1c.4027A>T (p.Asn1343Tyr)
c.3844A>T (p.Asn1282Tyr)
n.6380A>T
c.1870-1691A>T (n.1870-1691A>T)
c.4012A>T (p.Asn1338Tyr)
c.4024A>T (p.Asn1342Tyr)
c.3997A>T (p.Asn1333Tyr)
c.3943A>T (p.Asn1315Tyr)
c.3343A>T (p.Asn1115Tyr)
c.4291A>T (p.Asn1431Tyr)
c.4288A>T (p.Asn1430Tyr)
c.4207A>T (p.Asn1403Tyr)
c.4138A>T (p.Asn1380Tyr)
c.4006A>T (p.Asn1336Tyr)
c.3874A>T (p.Asn1292Tyr)
20g.32436740A=CA2360293843ASXL1c.4028A= (p.Asn1343=)
c.3845A= (p.Asn1282=)
n.6381A=
c.1870-1690A= (n.1870-1690A=)
c.4013A= (p.Asn1338=)
c.4025A= (p.Asn1342=)
c.3998A= (p.Asn1333=)
c.3944A= (p.Asn1315=)
c.3344A= (p.Asn1115=)
c.4292A= (p.Asn1431=)
c.4289A= (p.Asn1430=)
c.4208A= (p.Asn1403=)
c.4139A= (p.Asn1380=)
c.4007A= (p.Asn1336=)
c.3875A= (p.Asn1292=)
20g.32436740A>CCA408564287ASXL1c.4028A>C (p.Asn1343Thr)
c.3845A>C (p.Asn1282Thr)
n.6381A>C
c.1870-1690A>C (n.1870-1690A>C)
c.4013A>C (p.Asn1338Thr)
c.4025A>C (p.Asn1342Thr)
c.3998A>C (p.Asn1333Thr)
c.3944A>C (p.Asn1315Thr)
c.3344A>C (p.Asn1115Thr)
c.4292A>C (p.Asn1431Thr)
c.4289A>C (p.Asn1430Thr)
c.4208A>C (p.Asn1403Thr)
c.4139A>C (p.Asn1380Thr)
c.4007A>C (p.Asn1336Thr)
c.3875A>C (p.Asn1292Thr)
20g.32436740A>GCA408564289ASXL1c.4028A>G (p.Asn1343Ser)
c.3845A>G (p.Asn1282Ser)
n.6381A>G
c.1870-1690A>G (n.1870-1690A>G)
c.4013A>G (p.Asn1338Ser)
c.4025A>G (p.Asn1342Ser)
c.3998A>G (p.Asn1333Ser)
c.3944A>G (p.Asn1315Ser)
c.3344A>G (p.Asn1115Ser)
c.4292A>G (p.Asn1431Ser)
c.4289A>G (p.Asn1430Ser)
c.4208A>G (p.Asn1403Ser)
c.4139A>G (p.Asn1380Ser)
c.4007A>G (p.Asn1336Ser)
c.3875A>G (p.Asn1292Ser)
 dbSNP
20g.32436740A>TCA408564288ASXL1c.4028A>T (p.Asn1343Ile)
c.3845A>T (p.Asn1282Ile)
n.6381A>T
c.1870-1690A>T (n.1870-1690A>T)
c.4013A>T (p.Asn1338Ile)
c.4025A>T (p.Asn1342Ile)
c.3998A>T (p.Asn1333Ile)
c.3944A>T (p.Asn1315Ile)
c.3344A>T (p.Asn1115Ile)
c.4292A>T (p.Asn1431Ile)
c.4289A>T (p.Asn1430Ile)
c.4208A>T (p.Asn1403Ile)
c.4139A>T (p.Asn1380Ile)
c.4007A>T (p.Asn1336Ile)
c.3875A>T (p.Asn1292Ile)
20g.32436741C>ACA408564290ASXL1c.4029C>A (p.Asn1343Lys)
c.3846C>A (p.Asn1282Lys)
n.6382C>A
c.1870-1689C>A (n.1870-1689C>A)
c.4014C>A (p.Asn1338Lys)
c.4026C>A (p.Asn1342Lys)
c.3999C>A (p.Asn1333Lys)
c.3945C>A (p.Asn1315Lys)
c.3345C>A (p.Asn1115Lys)
c.4293C>A (p.Asn1431Lys)
c.4290C>A (p.Asn1430Lys)
c.4209C>A (p.Asn1403Lys)
c.4140C>A (p.Asn1380Lys)
c.4008C>A (p.Asn1336Lys)
c.3876C>A (p.Asn1292Lys)
20g.32436741C>GCA408564291ASXL1c.4029C>G (p.Asn1343Lys)
c.3846C>G (p.Asn1282Lys)
n.6382C>G
c.1870-1689C>G (n.1870-1689C>G)
c.4014C>G (p.Asn1338Lys)
c.4026C>G (p.Asn1342Lys)
c.3999C>G (p.Asn1333Lys)
c.3945C>G (p.Asn1315Lys)
c.3345C>G (p.Asn1115Lys)
c.4293C>G (p.Asn1431Lys)
c.4290C>G (p.Asn1430Lys)
c.4209C>G (p.Asn1403Lys)
c.4140C>G (p.Asn1380Lys)
c.4008C>G (p.Asn1336Lys)
c.3876C>G (p.Asn1292Lys)
20g.32436741C>TCA510467598ASXL1c.4029C>T (p.Asn1343=)
c.3846C>T (p.Asn1282=)
n.6382C>T
c.1870-1689C>T (n.1870-1689C>T)
c.4014C>T (p.Asn1338=)
c.4026C>T (p.Asn1342=)
c.3999C>T (p.Asn1333=)
c.3945C>T (p.Asn1315=)
c.3345C>T (p.Asn1115=)
c.4293C>T (p.Asn1431=)
c.4290C>T (p.Asn1430=)
c.4209C>T (p.Asn1403=)
c.4140C>T (p.Asn1380=)
c.4008C>T (p.Asn1336=)
c.3876C>T (p.Asn1292=)
 dbSNP gnomAD v4
20g.32436742T>ACA408564292ASXL1c.4030T>A (p.Ser1344Thr)
c.3847T>A (p.Ser1283Thr)
n.6383T>A
c.1870-1688T>A (n.1870-1688T>A)
c.4015T>A (p.Ser1339Thr)
c.4027T>A (p.Ser1343Thr)
c.4000T>A (p.Ser1334Thr)
c.3946T>A (p.Ser1316Thr)
c.3346T>A (p.Ser1116Thr)
c.4294T>A (p.Ser1432Thr)
c.4291T>A (p.Ser1431Thr)
c.4210T>A (p.Ser1404Thr)
c.4141T>A (p.Ser1381Thr)
c.4009T>A (p.Ser1337Thr)
c.3877T>A (p.Ser1293Thr)
20g.32436742T>CCA408564293ASXL1c.4030T>C (p.Ser1344Pro)
c.3847T>C (p.Ser1283Pro)
n.6383T>C
c.1870-1688T>C (n.1870-1688T>C)
c.4015T>C (p.Ser1339Pro)
c.4027T>C (p.Ser1343Pro)
c.4000T>C (p.Ser1334Pro)
c.3946T>C (p.Ser1316Pro)
c.3346T>C (p.Ser1116Pro)
c.4294T>C (p.Ser1432Pro)
c.4291T>C (p.Ser1431Pro)
c.4210T>C (p.Ser1404Pro)
c.4141T>C (p.Ser1381Pro)
c.4009T>C (p.Ser1337Pro)
c.3877T>C (p.Ser1293Pro)
 gnomAD v4
20g.32436742T>GCA408564294ASXL1c.4030T>G (p.Ser1344Ala)
c.3847T>G (p.Ser1283Ala)
n.6383T>G
c.1870-1688T>G (n.1870-1688T>G)
c.4015T>G (p.Ser1339Ala)
c.4027T>G (p.Ser1343Ala)
c.4000T>G (p.Ser1334Ala)
c.3946T>G (p.Ser1316Ala)
c.3346T>G (p.Ser1116Ala)
c.4294T>G (p.Ser1432Ala)
c.4291T>G (p.Ser1431Ala)
c.4210T>G (p.Ser1404Ala)
c.4141T>G (p.Ser1381Ala)
c.4009T>G (p.Ser1337Ala)
c.3877T>G (p.Ser1293Ala)
20g.32436743C>ACA408564295ASXL1c.4031C>A (p.Ser1344Tyr)
c.3848C>A (p.Ser1283Tyr)
n.6384C>A
c.1870-1687C>A (n.1870-1687C>A)
c.4016C>A (p.Ser1339Tyr)
c.4028C>A (p.Ser1343Tyr)
c.4001C>A (p.Ser1334Tyr)
c.3947C>A (p.Ser1316Tyr)
c.3347C>A (p.Ser1116Tyr)
c.4295C>A (p.Ser1432Tyr)
c.4292C>A (p.Ser1431Tyr)
c.4211C>A (p.Ser1404Tyr)
c.4142C>A (p.Ser1381Tyr)
c.4010C>A (p.Ser1337Tyr)
c.3878C>A (p.Ser1293Tyr)
20g.32436743C>GCA408564296ASXL1c.4031C>G (p.Ser1344Cys)
c.3848C>G (p.Ser1283Cys)
n.6384C>G
c.1870-1687C>G (n.1870-1687C>G)
c.4016C>G (p.Ser1339Cys)
c.4028C>G (p.Ser1343Cys)
c.4001C>G (p.Ser1334Cys)
c.3947C>G (p.Ser1316Cys)
c.3347C>G (p.Ser1116Cys)
c.4295C>G (p.Ser1432Cys)
c.4292C>G (p.Ser1431Cys)
c.4211C>G (p.Ser1404Cys)
c.4142C>G (p.Ser1381Cys)
c.4010C>G (p.Ser1337Cys)
c.3878C>G (p.Ser1293Cys)
20g.32436743C>TCA408564297ASXL1c.4031C>T (p.Ser1344Phe)
c.3848C>T (p.Ser1283Phe)
n.6384C>T
c.1870-1687C>T (n.1870-1687C>T)
c.4016C>T (p.Ser1339Phe)
c.4028C>T (p.Ser1343Phe)
c.4001C>T (p.Ser1334Phe)
c.3947C>T (p.Ser1316Phe)
c.3347C>T (p.Ser1116Phe)
c.4295C>T (p.Ser1432Phe)
c.4292C>T (p.Ser1431Phe)
c.4211C>T (p.Ser1404Phe)
c.4142C>T (p.Ser1381Phe)
c.4010C>T (p.Ser1337Phe)
c.3878C>T (p.Ser1293Phe)
 gnomAD v4 COSMIC COSMIC
20g.32436744C>ACA510467600ASXL1c.4032C>A (p.Ser1344=)
c.3849C>A (p.Ser1283=)
n.6385C>A
c.1870-1686C>A (n.1870-1686C>A)
c.4017C>A (p.Ser1339=)
c.4029C>A (p.Ser1343=)
c.4002C>A (p.Ser1334=)
c.3948C>A (p.Ser1316=)
c.3348C>A (p.Ser1116=)
c.4296C>A (p.Ser1432=)
c.4293C>A (p.Ser1431=)
c.4212C>A (p.Ser1404=)
c.4143C>A (p.Ser1381=)
c.4011C>A (p.Ser1337=)
c.3879C>A (p.Ser1293=)
20g.32436744C>GCA510467601ASXL1c.4032C>G (p.Ser1344=)
c.3849C>G (p.Ser1283=)
n.6385C>G
c.1870-1686C>G (n.1870-1686C>G)
c.4017C>G (p.Ser1339=)
c.4029C>G (p.Ser1343=)
c.4002C>G (p.Ser1334=)
c.3948C>G (p.Ser1316=)
c.3348C>G (p.Ser1116=)
c.4296C>G (p.Ser1432=)
c.4293C>G (p.Ser1431=)
c.4212C>G (p.Ser1404=)
c.4143C>G (p.Ser1381=)
c.4011C>G (p.Ser1337=)
c.3879C>G (p.Ser1293=)
20g.32436744C>TCA510467602ASXL1c.4032C>T (p.Ser1344=)
c.3849C>T (p.Ser1283=)
n.6385C>T
c.1870-1686C>T (n.1870-1686C>T)
c.4017C>T (p.Ser1339=)
c.4029C>T (p.Ser1343=)
c.4002C>T (p.Ser1334=)
c.3948C>T (p.Ser1316=)
c.3348C>T (p.Ser1116=)
c.4296C>T (p.Ser1432=)
c.4293C>T (p.Ser1431=)
c.4212C>T (p.Ser1404=)
c.4143C>T (p.Ser1381=)
c.4011C>T (p.Ser1337=)
c.3879C>T (p.Ser1293=)
 ClinVar gnomAD v4 COSMIC COSMIC
20g.32436745A=CA2360293844ASXL1c.4033A= (p.Met1345=)
c.3850A= (p.Met1284=)
n.6386A=
c.1870-1685A= (n.1870-1685A=)
c.4018A= (p.Met1340=)
c.4030A= (p.Met1344=)
c.4003A= (p.Met1335=)
c.3949A= (p.Met1317=)
c.3349A= (p.Met1117=)
c.4297A= (p.Met1433=)
c.4294A= (p.Met1432=)
c.4213A= (p.Met1405=)
c.4144A= (p.Met1382=)
c.4012A= (p.Met1338=)
c.3880A= (p.Met1294=)
20g.32436745A>CCA408564298ASXL1c.4033A>C (p.Met1345Leu)
c.3850A>C (p.Met1284Leu)
n.6386A>C
c.1870-1685A>C (n.1870-1685A>C)
c.4018A>C (p.Met1340Leu)
c.4030A>C (p.Met1344Leu)
c.4003A>C (p.Met1335Leu)
c.3949A>C (p.Met1317Leu)
c.3349A>C (p.Met1117Leu)
c.4297A>C (p.Met1433Leu)
c.4294A>C (p.Met1432Leu)
c.4213A>C (p.Met1405Leu)
c.4144A>C (p.Met1382Leu)
c.4012A>C (p.Met1338Leu)
c.3880A>C (p.Met1294Leu)
20g.32436745A>GCA9808952ASXL1c.4033A>G (p.Met1345Val)
c.3850A>G (p.Met1284Val)
n.6386A>G
c.1870-1685A>G (n.1870-1685A>G)
c.4018A>G (p.Met1340Val)
c.4030A>G (p.Met1344Val)
c.4003A>G (p.Met1335Val)
c.3949A>G (p.Met1317Val)
c.3349A>G (p.Met1117Val)
c.4297A>G (p.Met1433Val)
c.4294A>G (p.Met1432Val)
c.4213A>G (p.Met1405Val)
c.4144A>G (p.Met1382Val)
c.4012A>G (p.Met1338Val)
c.3880A>G (p.Met1294Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436745A>TCA9808951ASXL1c.4033A>T (p.Met1345Leu)
c.3850A>T (p.Met1284Leu)
n.6386A>T
c.1870-1685A>T (n.1870-1685A>T)
c.4018A>T (p.Met1340Leu)
c.4030A>T (p.Met1344Leu)
c.4003A>T (p.Met1335Leu)
c.3949A>T (p.Met1317Leu)
c.3349A>T (p.Met1117Leu)
c.4297A>T (p.Met1433Leu)
c.4294A>T (p.Met1432Leu)
c.4213A>T (p.Met1405Leu)
c.4144A>T (p.Met1382Leu)
c.4012A>T (p.Met1338Leu)
c.3880A>T (p.Met1294Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436746T>ACA408564301ASXL1c.4034T>A (p.Met1345Lys)
c.3851T>A (p.Met1284Lys)
n.6387T>A
c.1870-1684T>A (n.1870-1684T>A)
c.4019T>A (p.Met1340Lys)
c.4031T>A (p.Met1344Lys)
c.4004T>A (p.Met1335Lys)
c.3950T>A (p.Met1317Lys)
c.3350T>A (p.Met1117Lys)
c.4298T>A (p.Met1433Lys)
c.4295T>A (p.Met1432Lys)
c.4214T>A (p.Met1405Lys)
c.4145T>A (p.Met1382Lys)
c.4013T>A (p.Met1338Lys)
c.3881T>A (p.Met1294Lys)
20g.32436746T>CCA408564300ASXL1c.4034T>C (p.Met1345Thr)
c.3851T>C (p.Met1284Thr)
n.6387T>C
c.1870-1684T>C (n.1870-1684T>C)
c.4019T>C (p.Met1340Thr)
c.4031T>C (p.Met1344Thr)
c.4004T>C (p.Met1335Thr)
c.3950T>C (p.Met1317Thr)
c.3350T>C (p.Met1117Thr)
c.4298T>C (p.Met1433Thr)
c.4295T>C (p.Met1432Thr)
c.4214T>C (p.Met1405Thr)
c.4145T>C (p.Met1382Thr)
c.4013T>C (p.Met1338Thr)
c.3881T>C (p.Met1294Thr)
 dbSNP gnomAD v2 gnomAD v4
20g.32436746T>GCA408564299ASXL1c.4034T>G (p.Met1345Arg)
c.3851T>G (p.Met1284Arg)
n.6387T>G
c.1870-1684T>G (n.1870-1684T>G)
c.4019T>G (p.Met1340Arg)
c.4031T>G (p.Met1344Arg)
c.4004T>G (p.Met1335Arg)
c.3950T>G (p.Met1317Arg)
c.3350T>G (p.Met1117Arg)
c.4298T>G (p.Met1433Arg)
c.4295T>G (p.Met1432Arg)
c.4214T>G (p.Met1405Arg)
c.4145T>G (p.Met1382Arg)
c.4013T>G (p.Met1338Arg)
c.3881T>G (p.Met1294Arg)
 dbSNP gnomAD v2 gnomAD v4
20g.32436746T=CA2360293845ASXL1c.4034T= (p.Met1345=)
c.3851T= (p.Met1284=)
n.6387T=
c.1870-1684T= (n.1870-1684T=)
c.4019T= (p.Met1340=)
c.4031T= (p.Met1344=)
c.4004T= (p.Met1335=)
c.3950T= (p.Met1317=)
c.3350T= (p.Met1117=)
c.4298T= (p.Met1433=)
c.4295T= (p.Met1432=)
c.4214T= (p.Met1405=)
c.4145T= (p.Met1382=)
c.4013T= (p.Met1338=)
c.3881T= (p.Met1294=)
20g.32436747G>ACA408564302ASXL1c.4035G>A (p.Met1345Ile)
c.3852G>A (p.Met1284Ile)
n.6388G>A
c.1870-1683G>A (n.1870-1683G>A)
c.4020G>A (p.Met1340Ile)
c.4032G>A (p.Met1344Ile)
c.4005G>A (p.Met1335Ile)
c.3951G>A (p.Met1317Ile)
c.3351G>A (p.Met1117Ile)
c.4299G>A (p.Met1433Ile)
c.4296G>A (p.Met1432Ile)
c.4215G>A (p.Met1405Ile)
c.4146G>A (p.Met1382Ile)
c.4014G>A (p.Met1338Ile)
c.3882G>A (p.Met1294Ile)
 gnomAD v4
20g.32436747G>CCA408564303ASXL1c.4035G>C (p.Met1345Ile)
c.3852G>C (p.Met1284Ile)
n.6388G>C
c.1870-1683G>C (n.1870-1683G>C)
c.4020G>C (p.Met1340Ile)
c.4032G>C (p.Met1344Ile)
c.4005G>C (p.Met1335Ile)
c.3951G>C (p.Met1317Ile)
c.3351G>C (p.Met1117Ile)
c.4299G>C (p.Met1433Ile)
c.4296G>C (p.Met1432Ile)
c.4215G>C (p.Met1405Ile)
c.4146G>C (p.Met1382Ile)
c.4014G>C (p.Met1338Ile)
c.3882G>C (p.Met1294Ile)
20g.32436747G>TCA408564304ASXL1c.4035G>T (p.Met1345Ile)
c.3852G>T (p.Met1284Ile)
n.6388G>T
c.1870-1683G>T (n.1870-1683G>T)
c.4020G>T (p.Met1340Ile)
c.4032G>T (p.Met1344Ile)
c.4005G>T (p.Met1335Ile)
c.3951G>T (p.Met1317Ile)
c.3351G>T (p.Met1117Ile)
c.4299G>T (p.Met1433Ile)
c.4296G>T (p.Met1432Ile)
c.4215G>T (p.Met1405Ile)
c.4146G>T (p.Met1382Ile)
c.4014G>T (p.Met1338Ile)
c.3882G>T (p.Met1294Ile)
20g.32436748T>ACA408564305ASXL1c.4036T>A (p.Ser1346Thr)
c.3853T>A (p.Ser1285Thr)
n.6389T>A
c.1870-1682T>A (n.1870-1682T>A)
c.4021T>A (p.Ser1341Thr)
c.4033T>A (p.Ser1345Thr)
c.4006T>A (p.Ser1336Thr)
c.3952T>A (p.Ser1318Thr)
c.3352T>A (p.Ser1118Thr)
c.4300T>A (p.Ser1434Thr)
c.4297T>A (p.Ser1433Thr)
c.4216T>A (p.Ser1406Thr)
c.4147T>A (p.Ser1383Thr)
c.4015T>A (p.Ser1339Thr)
c.3883T>A (p.Ser1295Thr)
20g.32436748T>CCA408564306ASXL1c.4036T>C (p.Ser1346Pro)
c.3853T>C (p.Ser1285Pro)
n.6389T>C
c.1870-1682T>C (n.1870-1682T>C)
c.4021T>C (p.Ser1341Pro)
c.4033T>C (p.Ser1345Pro)
c.4006T>C (p.Ser1336Pro)
c.3952T>C (p.Ser1318Pro)
c.3352T>C (p.Ser1118Pro)
c.4300T>C (p.Ser1434Pro)
c.4297T>C (p.Ser1433Pro)
c.4216T>C (p.Ser1406Pro)
c.4147T>C (p.Ser1383Pro)
c.4015T>C (p.Ser1339Pro)
c.3883T>C (p.Ser1295Pro)
 gnomAD v4
20g.32436748T>GCA408564307ASXL1c.4036T>G (p.Ser1346Ala)
c.3853T>G (p.Ser1285Ala)
n.6389T>G
c.1870-1682T>G (n.1870-1682T>G)
c.4021T>G (p.Ser1341Ala)
c.4033T>G (p.Ser1345Ala)
c.4006T>G (p.Ser1336Ala)
c.3952T>G (p.Ser1318Ala)
c.3352T>G (p.Ser1118Ala)
c.4300T>G (p.Ser1434Ala)
c.4297T>G (p.Ser1433Ala)
c.4216T>G (p.Ser1406Ala)
c.4147T>G (p.Ser1383Ala)
c.4015T>G (p.Ser1339Ala)
c.3883T>G (p.Ser1295Ala)
20g.32436749C>ACA408564310ASXL1c.4037C>A (p.Ser1346Tyr)
c.3854C>A (p.Ser1285Tyr)
n.6390C>A
c.1870-1681C>A (n.1870-1681C>A)
c.4022C>A (p.Ser1341Tyr)
c.4034C>A (p.Ser1345Tyr)
c.4007C>A (p.Ser1336Tyr)
c.3953C>A (p.Ser1318Tyr)
c.3353C>A (p.Ser1118Tyr)
c.4301C>A (p.Ser1434Tyr)
c.4298C>A (p.Ser1433Tyr)
c.4217C>A (p.Ser1406Tyr)
c.4148C>A (p.Ser1383Tyr)
c.4016C>A (p.Ser1339Tyr)
c.3884C>A (p.Ser1295Tyr)
 dbSNP
20g.32436749C>GCA408564309ASXL1c.4037C>G (p.Ser1346Cys)
c.3854C>G (p.Ser1285Cys)
n.6390C>G
c.1870-1681C>G (n.1870-1681C>G)
c.4022C>G (p.Ser1341Cys)
c.4034C>G (p.Ser1345Cys)
c.4007C>G (p.Ser1336Cys)
c.3953C>G (p.Ser1318Cys)
c.3353C>G (p.Ser1118Cys)
c.4301C>G (p.Ser1434Cys)
c.4298C>G (p.Ser1433Cys)
c.4217C>G (p.Ser1406Cys)
c.4148C>G (p.Ser1383Cys)
c.4016C>G (p.Ser1339Cys)
c.3884C>G (p.Ser1295Cys)
20g.32436749C>TCA408564308ASXL1c.4037C>T (p.Ser1346Phe)
c.3854C>T (p.Ser1285Phe)
n.6390C>T
c.1870-1681C>T (n.1870-1681C>T)
c.4022C>T (p.Ser1341Phe)
c.4034C>T (p.Ser1345Phe)
c.4007C>T (p.Ser1336Phe)
c.3953C>T (p.Ser1318Phe)
c.3353C>T (p.Ser1118Phe)
c.4301C>T (p.Ser1434Phe)
c.4298C>T (p.Ser1433Phe)
c.4217C>T (p.Ser1406Phe)
c.4148C>T (p.Ser1383Phe)
c.4016C>T (p.Ser1339Phe)
c.3884C>T (p.Ser1295Phe)
20g.32436750T>ACA510467604ASXL1c.4038T>A (p.Ser1346=)
c.3855T>A (p.Ser1285=)
n.6391T>A
c.1870-1680T>A (n.1870-1680T>A)
c.4023T>A (p.Ser1341=)
c.4035T>A (p.Ser1345=)
c.4008T>A (p.Ser1336=)
c.3954T>A (p.Ser1318=)
c.3354T>A (p.Ser1118=)
c.4302T>A (p.Ser1434=)
c.4299T>A (p.Ser1433=)
c.4218T>A (p.Ser1406=)
c.4149T>A (p.Ser1383=)
c.4017T>A (p.Ser1339=)
c.3885T>A (p.Ser1295=)
20g.32436750T>CCA510467605ASXL1c.4038T>C (p.Ser1346=)
c.3855T>C (p.Ser1285=)
n.6391T>C
c.1870-1680T>C (n.1870-1680T>C)
c.4023T>C (p.Ser1341=)
c.4035T>C (p.Ser1345=)
c.4008T>C (p.Ser1336=)
c.3954T>C (p.Ser1318=)
c.3354T>C (p.Ser1118=)
c.4302T>C (p.Ser1434=)
c.4299T>C (p.Ser1433=)
c.4218T>C (p.Ser1406=)
c.4149T>C (p.Ser1383=)
c.4017T>C (p.Ser1339=)
c.3885T>C (p.Ser1295=)
20g.32436750T>GCA510467606ASXL1c.4038T>G (p.Ser1346=)
c.3855T>G (p.Ser1285=)
n.6391T>G
c.1870-1680T>G (n.1870-1680T>G)
c.4023T>G (p.Ser1341=)
c.4035T>G (p.Ser1345=)
c.4008T>G (p.Ser1336=)
c.3954T>G (p.Ser1318=)
c.3354T>G (p.Ser1118=)
c.4302T>G (p.Ser1434=)
c.4299T>G (p.Ser1433=)
c.4218T>G (p.Ser1406=)
c.4149T>G (p.Ser1383=)
c.4017T>G (p.Ser1339=)
c.3885T>G (p.Ser1295=)
20g.32436751G>ACA408564311ASXL1c.4039G>A (p.Gly1347Ser)
c.3856G>A (p.Gly1286Ser)
n.6392G>A
c.1870-1679G>A (n.1870-1679G>A)
c.4024G>A (p.Gly1342Ser)
c.4036G>A (p.Gly1346Ser)
c.4009G>A (p.Gly1337Ser)
c.3955G>A (p.Gly1319Ser)
c.3355G>A (p.Gly1119Ser)
c.4303G>A (p.Gly1435Ser)
c.4300G>A (p.Gly1434Ser)
c.4219G>A (p.Gly1407Ser)
c.4150G>A (p.Gly1384Ser)
c.4018G>A (p.Gly1340Ser)
c.3886G>A (p.Gly1296Ser)
 dbSNP gnomAD v3 gnomAD v4
20g.32436751G>CCA408564312ASXL1c.4039G>C (p.Gly1347Arg)
c.3856G>C (p.Gly1286Arg)
n.6392G>C
c.1870-1679G>C (n.1870-1679G>C)
c.4024G>C (p.Gly1342Arg)
c.4036G>C (p.Gly1346Arg)
c.4009G>C (p.Gly1337Arg)
c.3955G>C (p.Gly1319Arg)
c.3355G>C (p.Gly1119Arg)
c.4303G>C (p.Gly1435Arg)
c.4300G>C (p.Gly1434Arg)
c.4219G>C (p.Gly1407Arg)
c.4150G>C (p.Gly1384Arg)
c.4018G>C (p.Gly1340Arg)
c.3886G>C (p.Gly1296Arg)
20g.32436751G=CA2360293846ASXL1c.4039G= (p.Gly1347=)
c.3856G= (p.Gly1286=)
n.6392G=
c.1870-1679G= (n.1870-1679G=)
c.4024G= (p.Gly1342=)
c.4036G= (p.Gly1346=)
c.4009G= (p.Gly1337=)
c.3955G= (p.Gly1319=)
c.3355G= (p.Gly1119=)
c.4303G= (p.Gly1435=)
c.4300G= (p.Gly1434=)
c.4219G= (p.Gly1407=)
c.4150G= (p.Gly1384=)
c.4018G= (p.Gly1340=)
c.3886G= (p.Gly1296=)
20g.32436751G>TCA408564313ASXL1c.4039G>T (p.Gly1347Cys)
c.3856G>T (p.Gly1286Cys)
n.6392G>T
c.1870-1679G>T (n.1870-1679G>T)
c.4024G>T (p.Gly1342Cys)
c.4036G>T (p.Gly1346Cys)
c.4009G>T (p.Gly1337Cys)
c.3955G>T (p.Gly1319Cys)
c.3355G>T (p.Gly1119Cys)
c.4303G>T (p.Gly1435Cys)
c.4300G>T (p.Gly1434Cys)
c.4219G>T (p.Gly1407Cys)
c.4150G>T (p.Gly1384Cys)
c.4018G>T (p.Gly1340Cys)
c.3886G>T (p.Gly1296Cys)
 gnomAD v4
20g.32436752G>ACA9808953ASXL1c.4040G>A (p.Gly1347Asp)
c.3857G>A (p.Gly1286Asp)
n.6393G>A
c.1870-1678G>A (n.1870-1678G>A)
c.4025G>A (p.Gly1342Asp)
c.4037G>A (p.Gly1346Asp)
c.4010G>A (p.Gly1337Asp)
c.3956G>A (p.Gly1319Asp)
c.3356G>A (p.Gly1119Asp)
c.4304G>A (p.Gly1435Asp)
c.4301G>A (p.Gly1434Asp)
c.4220G>A (p.Gly1407Asp)
c.4151G>A (p.Gly1384Asp)
c.4019G>A (p.Gly1340Asp)
c.3887G>A (p.Gly1296Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436752G>CCA408564314ASXL1c.4040G>C (p.Gly1347Ala)
c.3857G>C (p.Gly1286Ala)
n.6393G>C
c.1870-1678G>C (n.1870-1678G>C)
c.4025G>C (p.Gly1342Ala)
c.4037G>C (p.Gly1346Ala)
c.4010G>C (p.Gly1337Ala)
c.3956G>C (p.Gly1319Ala)
c.3356G>C (p.Gly1119Ala)
c.4304G>C (p.Gly1435Ala)
c.4301G>C (p.Gly1434Ala)
c.4220G>C (p.Gly1407Ala)
c.4151G>C (p.Gly1384Ala)
c.4019G>C (p.Gly1340Ala)
c.3887G>C (p.Gly1296Ala)
20g.32436752G=CA2360293847ASXL1c.4040G= (p.Gly1347=)
c.3857G= (p.Gly1286=)
n.6393G=
c.1870-1678G= (n.1870-1678G=)
c.4025G= (p.Gly1342=)
c.4037G= (p.Gly1346=)
c.4010G= (p.Gly1337=)
c.3956G= (p.Gly1319=)
c.3356G= (p.Gly1119=)
c.4304G= (p.Gly1435=)
c.4301G= (p.Gly1434=)
c.4220G= (p.Gly1407=)
c.4151G= (p.Gly1384=)
c.4019G= (p.Gly1340=)
c.3887G= (p.Gly1296=)
20g.32436752G>TCA408564315ASXL1c.4040G>T (p.Gly1347Val)
c.3857G>T (p.Gly1286Val)
n.6393G>T
c.1870-1678G>T (n.1870-1678G>T)
c.4025G>T (p.Gly1342Val)
c.4037G>T (p.Gly1346Val)
c.4010G>T (p.Gly1337Val)
c.3956G>T (p.Gly1319Val)
c.3356G>T (p.Gly1119Val)
c.4304G>T (p.Gly1435Val)
c.4301G>T (p.Gly1434Val)
c.4220G>T (p.Gly1407Val)
c.4151G>T (p.Gly1384Val)
c.4019G>T (p.Gly1340Val)
c.3887G>T (p.Gly1296Val)
 gnomAD v4
20g.32436753T>ACA510467608ASXL1c.4041T>A (p.Gly1347=)
c.3858T>A (p.Gly1286=)
n.6394T>A
c.1870-1677T>A (n.1870-1677T>A)
c.4026T>A (p.Gly1342=)
c.4038T>A (p.Gly1346=)
c.4011T>A (p.Gly1337=)
c.3957T>A (p.Gly1319=)
c.3357T>A (p.Gly1119=)
c.4305T>A (p.Gly1435=)
c.4302T>A (p.Gly1434=)
c.4221T>A (p.Gly1407=)
c.4152T>A (p.Gly1384=)
c.4020T>A (p.Gly1340=)
c.3888T>A (p.Gly1296=)
20g.32436753T>CCA510467610ASXL1c.4041T>C (p.Gly1347=)
c.3858T>C (p.Gly1286=)
n.6394T>C
c.1870-1677T>C (n.1870-1677T>C)
c.4026T>C (p.Gly1342=)
c.4038T>C (p.Gly1346=)
c.4011T>C (p.Gly1337=)
c.3957T>C (p.Gly1319=)
c.3357T>C (p.Gly1119=)
c.4305T>C (p.Gly1435=)
c.4302T>C (p.Gly1434=)
c.4221T>C (p.Gly1407=)
c.4152T>C (p.Gly1384=)
c.4020T>C (p.Gly1340=)
c.3888T>C (p.Gly1296=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436753T>GCA510467611ASXL1c.4041T>G (p.Gly1347=)
c.3858T>G (p.Gly1286=)
n.6394T>G
c.1870-1677T>G (n.1870-1677T>G)
c.4026T>G (p.Gly1342=)
c.4038T>G (p.Gly1346=)
c.4011T>G (p.Gly1337=)
c.3957T>G (p.Gly1319=)
c.3357T>G (p.Gly1119=)
c.4305T>G (p.Gly1435=)
c.4302T>G (p.Gly1434=)
c.4221T>G (p.Gly1407=)
c.4152T>G (p.Gly1384=)
c.4020T>G (p.Gly1340=)
c.3888T>G (p.Gly1296=)
20g.32436753T=CA2360293848ASXL1c.4041T= (p.Gly1347=)
c.3858T= (p.Gly1286=)
n.6394T=
c.1870-1677T= (n.1870-1677T=)
c.4026T= (p.Gly1342=)
c.4038T= (p.Gly1346=)
c.4011T= (p.Gly1337=)
c.3957T= (p.Gly1319=)
c.3357T= (p.Gly1119=)
c.4305T= (p.Gly1435=)
c.4302T= (p.Gly1434=)
c.4221T= (p.Gly1407=)
c.4152T= (p.Gly1384=)
c.4020T= (p.Gly1340=)
c.3888T= (p.Gly1296=)
20g.32436754G>ACA408564316ASXL1c.4042G>A (p.Gly1348Arg)
c.3859G>A (p.Gly1287Arg)
n.6395G>A
c.1870-1676G>A (n.1870-1676G>A)
c.4027G>A (p.Gly1343Arg)
c.4039G>A (p.Gly1347Arg)
c.4012G>A (p.Gly1338Arg)
c.3958G>A (p.Gly1320Arg)
c.3358G>A (p.Gly1120Arg)
c.4306G>A (p.Gly1436Arg)
c.4303G>A (p.Gly1435Arg)
c.4222G>A (p.Gly1408Arg)
c.4153G>A (p.Gly1385Arg)
c.4021G>A (p.Gly1341Arg)
c.3889G>A (p.Gly1297Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32436754G>CCA408564318ASXL1c.4042G>C (p.Gly1348Arg)
c.3859G>C (p.Gly1287Arg)
n.6395G>C
c.1870-1676G>C (n.1870-1676G>C)
c.4027G>C (p.Gly1343Arg)
c.4039G>C (p.Gly1347Arg)
c.4012G>C (p.Gly1338Arg)
c.3958G>C (p.Gly1320Arg)
c.3358G>C (p.Gly1120Arg)
c.4306G>C (p.Gly1436Arg)
c.4303G>C (p.Gly1435Arg)
c.4222G>C (p.Gly1408Arg)
c.4153G>C (p.Gly1385Arg)
c.4021G>C (p.Gly1341Arg)
c.3889G>C (p.Gly1297Arg)
20g.32436754G=CA2360293849ASXL1c.4042G= (p.Gly1348=)
c.3859G= (p.Gly1287=)
n.6395G=
c.1870-1676G= (n.1870-1676G=)
c.4027G= (p.Gly1343=)
c.4039G= (p.Gly1347=)
c.4012G= (p.Gly1338=)
c.3958G= (p.Gly1320=)
c.3358G= (p.Gly1120=)
c.4306G= (p.Gly1436=)
c.4303G= (p.Gly1435=)
c.4222G= (p.Gly1408=)
c.4153G= (p.Gly1385=)
c.4021G= (p.Gly1341=)
c.3889G= (p.Gly1297=)
20g.32436754G>TCA408564317ASXL1c.4042G>T (p.Gly1348Trp)
c.3859G>T (p.Gly1287Trp)
n.6395G>T
c.1870-1676G>T (n.1870-1676G>T)
c.4027G>T (p.Gly1343Trp)
c.4039G>T (p.Gly1347Trp)
c.4012G>T (p.Gly1338Trp)
c.3958G>T (p.Gly1320Trp)
c.3358G>T (p.Gly1120Trp)
c.4306G>T (p.Gly1436Trp)
c.4303G>T (p.Gly1435Trp)
c.4222G>T (p.Gly1408Trp)
c.4153G>T (p.Gly1385Trp)
c.4021G>T (p.Gly1341Trp)
c.3889G>T (p.Gly1297Trp)
20g.32436755G>ACA408564319ASXL1c.4043G>A (p.Gly1348Glu)
c.3860G>A (p.Gly1287Glu)
n.6396G>A
c.1870-1675G>A (n.1870-1675G>A)
c.4028G>A (p.Gly1343Glu)
c.4040G>A (p.Gly1347Glu)
c.4013G>A (p.Gly1338Glu)
c.3959G>A (p.Gly1320Glu)
c.3359G>A (p.Gly1120Glu)
c.4307G>A (p.Gly1436Glu)
c.4304G>A (p.Gly1435Glu)
c.4223G>A (p.Gly1408Glu)
c.4154G>A (p.Gly1385Glu)
c.4022G>A (p.Gly1341Glu)
c.3890G>A (p.Gly1297Glu)
 dbSNP gnomAD v2
20g.32436755G>CCA408564320ASXL1c.4043G>C (p.Gly1348Ala)
c.3860G>C (p.Gly1287Ala)
n.6396G>C
c.1870-1675G>C (n.1870-1675G>C)
c.4028G>C (p.Gly1343Ala)
c.4040G>C (p.Gly1347Ala)
c.4013G>C (p.Gly1338Ala)
c.3959G>C (p.Gly1320Ala)
c.3359G>C (p.Gly1120Ala)
c.4307G>C (p.Gly1436Ala)
c.4304G>C (p.Gly1435Ala)
c.4223G>C (p.Gly1408Ala)
c.4154G>C (p.Gly1385Ala)
c.4022G>C (p.Gly1341Ala)
c.3890G>C (p.Gly1297Ala)
20g.32436755G=CA2360293850ASXL1c.4043G= (p.Gly1348=)
c.3860G= (p.Gly1287=)
n.6396G=
c.1870-1675G= (n.1870-1675G=)
c.4028G= (p.Gly1343=)
c.4040G= (p.Gly1347=)
c.4013G= (p.Gly1338=)
c.3959G= (p.Gly1320=)
c.3359G= (p.Gly1120=)
c.4307G= (p.Gly1436=)
c.4304G= (p.Gly1435=)
c.4223G= (p.Gly1408=)
c.4154G= (p.Gly1385=)
c.4022G= (p.Gly1341=)
c.3890G= (p.Gly1297=)
20g.32436755G>TCA408564321ASXL1c.4043G>T (p.Gly1348Val)
c.3860G>T (p.Gly1287Val)
n.6396G>T
c.1870-1675G>T (n.1870-1675G>T)
c.4028G>T (p.Gly1343Val)
c.4040G>T (p.Gly1347Val)
c.4013G>T (p.Gly1338Val)
c.3959G>T (p.Gly1320Val)
c.3359G>T (p.Gly1120Val)
c.4307G>T (p.Gly1436Val)
c.4304G>T (p.Gly1435Val)
c.4223G>T (p.Gly1408Val)
c.4154G>T (p.Gly1385Val)
c.4022G>T (p.Gly1341Val)
c.3890G>T (p.Gly1297Val)
20g.32436756G>ACA510467618ASXL1c.4044G>A (p.Gly1348=)
c.3861G>A (p.Gly1287=)
n.6397G>A
c.1870-1674G>A (n.1870-1674G>A)
c.4029G>A (p.Gly1343=)
c.4041G>A (p.Gly1347=)
c.4014G>A (p.Gly1338=)
c.3960G>A (p.Gly1320=)
c.3360G>A (p.Gly1120=)
c.4308G>A (p.Gly1436=)
c.4305G>A (p.Gly1435=)
c.4224G>A (p.Gly1408=)
c.4155G>A (p.Gly1385=)
c.4023G>A (p.Gly1341=)
c.3891G>A (p.Gly1297=)
 dbSNP gnomAD v4
20g.32436756G>CCA510467616ASXL1c.4044G>C (p.Gly1348=)
c.3861G>C (p.Gly1287=)
n.6397G>C
c.1870-1674G>C (n.1870-1674G>C)
c.4029G>C (p.Gly1343=)
c.4041G>C (p.Gly1347=)
c.4014G>C (p.Gly1338=)
c.3960G>C (p.Gly1320=)
c.3360G>C (p.Gly1120=)
c.4308G>C (p.Gly1436=)
c.4305G>C (p.Gly1435=)
c.4224G>C (p.Gly1408=)
c.4155G>C (p.Gly1385=)
c.4023G>C (p.Gly1341=)
c.3891G>C (p.Gly1297=)
20g.32436756G>TCA510467617ASXL1c.4044G>T (p.Gly1348=)
c.3861G>T (p.Gly1287=)
n.6397G>T
c.1870-1674G>T (n.1870-1674G>T)
c.4029G>T (p.Gly1343=)
c.4041G>T (p.Gly1347=)
c.4014G>T (p.Gly1338=)
c.3960G>T (p.Gly1320=)
c.3360G>T (p.Gly1120=)
c.4308G>T (p.Gly1436=)
c.4305G>T (p.Gly1435=)
c.4224G>T (p.Gly1408=)
c.4155G>T (p.Gly1385=)
c.4023G>T (p.Gly1341=)
c.3891G>T (p.Gly1297=)
 gnomAD v4
20g.32436757G>ACA408564322ASXL1c.4045G>A (p.Val1349Ile)
c.3862G>A (p.Val1288Ile)
n.6398G>A
c.1870-1673G>A (n.1870-1673G>A)
c.4030G>A (p.Val1344Ile)
c.4042G>A (p.Val1348Ile)
c.4015G>A (p.Val1339Ile)
c.3961G>A (p.Val1321Ile)
c.3361G>A (p.Val1121Ile)
c.4309G>A (p.Val1437Ile)
c.4306G>A (p.Val1436Ile)
c.4225G>A (p.Val1409Ile)
c.4156G>A (p.Val1386Ile)
c.4024G>A (p.Val1342Ile)
c.3892G>A (p.Val1298Ile)
 dbSNP gnomAD v2 gnomAD v4
20g.32436757G>CCA408564323ASXL1c.4045G>C (p.Val1349Leu)
c.3862G>C (p.Val1288Leu)
n.6398G>C
c.1870-1673G>C (n.1870-1673G>C)
c.4030G>C (p.Val1344Leu)
c.4042G>C (p.Val1348Leu)
c.4015G>C (p.Val1339Leu)
c.3961G>C (p.Val1321Leu)
c.3361G>C (p.Val1121Leu)
c.4309G>C (p.Val1437Leu)
c.4306G>C (p.Val1436Leu)
c.4225G>C (p.Val1409Leu)
c.4156G>C (p.Val1386Leu)
c.4024G>C (p.Val1342Leu)
c.3892G>C (p.Val1298Leu)
20g.32436757G=CA2360293851ASXL1c.4045G= (p.Val1349=)
c.3862G= (p.Val1288=)
n.6398G=
c.1870-1673G= (n.1870-1673G=)
c.4030G= (p.Val1344=)
c.4042G= (p.Val1348=)
c.4015G= (p.Val1339=)
c.3961G= (p.Val1321=)
c.3361G= (p.Val1121=)
c.4309G= (p.Val1437=)
c.4306G= (p.Val1436=)
c.4225G= (p.Val1409=)
c.4156G= (p.Val1386=)
c.4024G= (p.Val1342=)
c.3892G= (p.Val1298=)
20g.32436757G>TCA408564324ASXL1c.4045G>T (p.Val1349Leu)
c.3862G>T (p.Val1288Leu)
n.6398G>T
c.1870-1673G>T (n.1870-1673G>T)
c.4030G>T (p.Val1344Leu)
c.4042G>T (p.Val1348Leu)
c.4015G>T (p.Val1339Leu)
c.3961G>T (p.Val1321Leu)
c.3361G>T (p.Val1121Leu)
c.4309G>T (p.Val1437Leu)
c.4306G>T (p.Val1436Leu)
c.4225G>T (p.Val1409Leu)
c.4156G>T (p.Val1386Leu)
c.4024G>T (p.Val1342Leu)
c.3892G>T (p.Val1298Leu)
20g.32436758T>ACA408564325ASXL1c.4046T>A (p.Val1349Glu)
c.3863T>A (p.Val1288Glu)
n.6399T>A
c.1870-1672T>A (n.1870-1672T>A)
c.4031T>A (p.Val1344Glu)
c.4043T>A (p.Val1348Glu)
c.4016T>A (p.Val1339Glu)
c.3962T>A (p.Val1321Glu)
c.3362T>A (p.Val1121Glu)
c.4310T>A (p.Val1437Glu)
c.4307T>A (p.Val1436Glu)
c.4226T>A (p.Val1409Glu)
c.4157T>A (p.Val1386Glu)
c.4025T>A (p.Val1342Glu)
c.3893T>A (p.Val1298Glu)
20g.32436758T>CCA408564326ASXL1c.4046T>C (p.Val1349Ala)
c.3863T>C (p.Val1288Ala)
n.6399T>C
c.1870-1672T>C (n.1870-1672T>C)
c.4031T>C (p.Val1344Ala)
c.4043T>C (p.Val1348Ala)
c.4016T>C (p.Val1339Ala)
c.3962T>C (p.Val1321Ala)
c.3362T>C (p.Val1121Ala)
c.4310T>C (p.Val1437Ala)
c.4307T>C (p.Val1436Ala)
c.4226T>C (p.Val1409Ala)
c.4157T>C (p.Val1386Ala)
c.4025T>C (p.Val1342Ala)
c.3893T>C (p.Val1298Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32436758T>GCA408564327ASXL1c.4046T>G (p.Val1349Gly)
c.3863T>G (p.Val1288Gly)
n.6399T>G
c.1870-1672T>G (n.1870-1672T>G)
c.4031T>G (p.Val1344Gly)
c.4043T>G (p.Val1348Gly)
c.4016T>G (p.Val1339Gly)
c.3962T>G (p.Val1321Gly)
c.3362T>G (p.Val1121Gly)
c.4310T>G (p.Val1437Gly)
c.4307T>G (p.Val1436Gly)
c.4226T>G (p.Val1409Gly)
c.4157T>G (p.Val1386Gly)
c.4025T>G (p.Val1342Gly)
c.3893T>G (p.Val1298Gly)
20g.32436758T=CA2360293852ASXL1c.4046T= (p.Val1349=)
c.3863T= (p.Val1288=)
n.6399T=
c.1870-1672T= (n.1870-1672T=)
c.4031T= (p.Val1344=)
c.4043T= (p.Val1348=)
c.4016T= (p.Val1339=)
c.3962T= (p.Val1321=)
c.3362T= (p.Val1121=)
c.4310T= (p.Val1437=)
c.4307T= (p.Val1436=)
c.4226T= (p.Val1409=)
c.4157T= (p.Val1386=)
c.4025T= (p.Val1342=)
c.3893T= (p.Val1298=)
20g.32436759A=CA2360293853ASXL1c.4047A= (p.Val1349=)
c.3864A= (p.Val1288=)
n.6400A=
c.1870-1671A= (n.1870-1671A=)
c.4032A= (p.Val1344=)
c.4044A= (p.Val1348=)
c.4017A= (p.Val1339=)
c.3963A= (p.Val1321=)
c.3363A= (p.Val1121=)
c.4311A= (p.Val1437=)
c.4308A= (p.Val1436=)
c.4227A= (p.Val1409=)
c.4158A= (p.Val1386=)
c.4026A= (p.Val1342=)
c.3894A= (p.Val1298=)
20g.32436759A>CCA510467624ASXL1c.4047A>C (p.Val1349=)
c.3864A>C (p.Val1288=)
n.6400A>C
c.1870-1671A>C (n.1870-1671A>C)
c.4032A>C (p.Val1344=)
c.4044A>C (p.Val1348=)
c.4017A>C (p.Val1339=)
c.3963A>C (p.Val1321=)
c.3363A>C (p.Val1121=)
c.4311A>C (p.Val1437=)
c.4308A>C (p.Val1436=)
c.4227A>C (p.Val1409=)
c.4158A>C (p.Val1386=)
c.4026A>C (p.Val1342=)
c.3894A>C (p.Val1298=)
20g.32436759A>GCA510467623ASXL1c.4047A>G (p.Val1349=)
c.3864A>G (p.Val1288=)
n.6400A>G
c.1870-1671A>G (n.1870-1671A>G)
c.4032A>G (p.Val1344=)
c.4044A>G (p.Val1348=)
c.4017A>G (p.Val1339=)
c.3963A>G (p.Val1321=)
c.3363A>G (p.Val1121=)
c.4311A>G (p.Val1437=)
c.4308A>G (p.Val1436=)
c.4227A>G (p.Val1409=)
c.4158A>G (p.Val1386=)
c.4026A>G (p.Val1342=)
c.3894A>G (p.Val1298=)
 dbSNP
20g.32436759A>TCA510467622ASXL1c.4047A>T (p.Val1349=)
c.3864A>T (p.Val1288=)
n.6400A>T
c.1870-1671A>T (n.1870-1671A>T)
c.4032A>T (p.Val1344=)
c.4044A>T (p.Val1348=)
c.4017A>T (p.Val1339=)
c.3963A>T (p.Val1321=)
c.3363A>T (p.Val1121=)
c.4311A>T (p.Val1437=)
c.4308A>T (p.Val1436=)
c.4227A>T (p.Val1409=)
c.4158A>T (p.Val1386=)
c.4026A>T (p.Val1342=)
c.3894A>T (p.Val1298=)
20g.32436760C>ACA408564328ASXL1c.4048C>A (p.Gln1350Lys)
c.3865C>A (p.Gln1289Lys)
n.6401C>A
c.1870-1670C>A (n.1870-1670C>A)
c.4033C>A (p.Gln1345Lys)
c.4045C>A (p.Gln1349Lys)
c.4018C>A (p.Gln1340Lys)
c.3964C>A (p.Gln1322Lys)
c.3364C>A (p.Gln1122Lys)
c.4312C>A (p.Gln1438Lys)
c.4309C>A (p.Gln1437Lys)
c.4228C>A (p.Gln1410Lys)
c.4159C>A (p.Gln1387Lys)
c.4027C>A (p.Gln1343Lys)
c.3895C>A (p.Gln1299Lys)
 dbSNP
20g.32436760C=CA2360293854ASXL1c.4048C= (p.Gln1350=)
c.3865C= (p.Gln1289=)
n.6401C=
c.1870-1670C= (n.1870-1670C=)
c.4033C= (p.Gln1345=)
c.4045C= (p.Gln1349=)
c.4018C= (p.Gln1340=)
c.3964C= (p.Gln1322=)
c.3364C= (p.Gln1122=)
c.4312C= (p.Gln1438=)
c.4309C= (p.Gln1437=)
c.4228C= (p.Gln1410=)
c.4159C= (p.Gln1387=)
c.4027C= (p.Gln1343=)
c.3895C= (p.Gln1299=)
20g.32436760C>GCA408564329ASXL1c.4048C>G (p.Gln1350Glu)
c.3865C>G (p.Gln1289Glu)
n.6401C>G
c.1870-1670C>G (n.1870-1670C>G)
c.4033C>G (p.Gln1345Glu)
c.4045C>G (p.Gln1349Glu)
c.4018C>G (p.Gln1340Glu)
c.3964C>G (p.Gln1322Glu)
c.3364C>G (p.Gln1122Glu)
c.4312C>G (p.Gln1438Glu)
c.4309C>G (p.Gln1437Glu)
c.4228C>G (p.Gln1410Glu)
c.4159C>G (p.Gln1387Glu)
c.4027C>G (p.Gln1343Glu)
c.3895C>G (p.Gln1299Glu)
20g.32436760C>TCA9808954ASXL1c.4048C>T (p.Gln1350Ter)
c.3865C>T (p.Gln1289Ter)
n.6401C>T
c.1870-1670C>T (n.1870-1670C>T)
c.4033C>T (p.Gln1345Ter)
c.4045C>T (p.Gln1349Ter)
c.4018C>T (p.Gln1340Ter)
c.3964C>T (p.Gln1322Ter)
c.3364C>T (p.Gln1122Ter)
c.4312C>T (p.Gln1438Ter)
c.4309C>T (p.Gln1437Ter)
c.4228C>T (p.Gln1410Ter)
c.4159C>T (p.Gln1387Ter)
c.4027C>T (p.Gln1343Ter)
c.3895C>T (p.Gln1299Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.32436761A=CA2360293855ASXL1c.4049A= (p.Gln1350=)
c.3866A= (p.Gln1289=)
n.6402A=
c.1870-1669A= (n.1870-1669A=)
c.4034A= (p.Gln1345=)
c.4046A= (p.Gln1349=)
c.4019A= (p.Gln1340=)
c.3965A= (p.Gln1322=)
c.3365A= (p.Gln1122=)
c.4313A= (p.Gln1438=)
c.4310A= (p.Gln1437=)
c.4229A= (p.Gln1410=)
c.4160A= (p.Gln1387=)
c.4028A= (p.Gln1343=)
c.3896A= (p.Gln1299=)
20g.32436761A>CCA408564331ASXL1c.4049A>C (p.Gln1350Pro)
c.3866A>C (p.Gln1289Pro)
n.6402A>C
c.1870-1669A>C (n.1870-1669A>C)
c.4034A>C (p.Gln1345Pro)
c.4046A>C (p.Gln1349Pro)
c.4019A>C (p.Gln1340Pro)
c.3965A>C (p.Gln1322Pro)
c.3365A>C (p.Gln1122Pro)
c.4313A>C (p.Gln1438Pro)
c.4310A>C (p.Gln1437Pro)
c.4229A>C (p.Gln1410Pro)
c.4160A>C (p.Gln1387Pro)
c.4028A>C (p.Gln1343Pro)
c.3896A>C (p.Gln1299Pro)
20g.32436761A>GCA9808955ASXL1c.4049A>G (p.Gln1350Arg)
c.3866A>G (p.Gln1289Arg)
n.6402A>G
c.1870-1669A>G (n.1870-1669A>G)
c.4034A>G (p.Gln1345Arg)
c.4046A>G (p.Gln1349Arg)
c.4019A>G (p.Gln1340Arg)
c.3965A>G (p.Gln1322Arg)
c.3365A>G (p.Gln1122Arg)
c.4313A>G (p.Gln1438Arg)
c.4310A>G (p.Gln1437Arg)
c.4229A>G (p.Gln1410Arg)
c.4160A>G (p.Gln1387Arg)
c.4028A>G (p.Gln1343Arg)
c.3896A>G (p.Gln1299Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436761A>TCA408564330ASXL1c.4049A>T (p.Gln1350Leu)
c.3866A>T (p.Gln1289Leu)
n.6402A>T
c.1870-1669A>T (n.1870-1669A>T)
c.4034A>T (p.Gln1345Leu)
c.4046A>T (p.Gln1349Leu)
c.4019A>T (p.Gln1340Leu)
c.3965A>T (p.Gln1322Leu)
c.3365A>T (p.Gln1122Leu)
c.4313A>T (p.Gln1438Leu)
c.4310A>T (p.Gln1437Leu)
c.4229A>T (p.Gln1410Leu)
c.4160A>T (p.Gln1387Leu)
c.4028A>T (p.Gln1343Leu)
c.3896A>T (p.Gln1299Leu)
20g.32436762G>ACA510467628ASXL1c.4050G>A (p.Gln1350=)
c.3867G>A (p.Gln1289=)
n.6403G>A
c.1870-1668G>A (n.1870-1668G>A)
c.4035G>A (p.Gln1345=)
c.4047G>A (p.Gln1349=)
c.4020G>A (p.Gln1340=)
c.3966G>A (p.Gln1322=)
c.3366G>A (p.Gln1122=)
c.4314G>A (p.Gln1438=)
c.4311G>A (p.Gln1437=)
c.4230G>A (p.Gln1410=)
c.4161G>A (p.Gln1387=)
c.4029G>A (p.Gln1343=)
c.3897G>A (p.Gln1299=)
 gnomAD v4
20g.32436762G>CCA408564332ASXL1c.4050G>C (p.Gln1350His)
c.3867G>C (p.Gln1289His)
n.6403G>C
c.1870-1668G>C (n.1870-1668G>C)
c.4035G>C (p.Gln1345His)
c.4047G>C (p.Gln1349His)
c.4020G>C (p.Gln1340His)
c.3966G>C (p.Gln1322His)
c.3366G>C (p.Gln1122His)
c.4314G>C (p.Gln1438His)
c.4311G>C (p.Gln1437His)
c.4230G>C (p.Gln1410His)
c.4161G>C (p.Gln1387His)
c.4029G>C (p.Gln1343His)
c.3897G>C (p.Gln1299His)
20g.32436762G=CA2360293856ASXL1c.4050G= (p.Gln1350=)
c.3867G= (p.Gln1289=)
n.6403G=
c.1870-1668G= (n.1870-1668G=)
c.4035G= (p.Gln1345=)
c.4047G= (p.Gln1349=)
c.4020G= (p.Gln1340=)
c.3966G= (p.Gln1322=)
c.3366G= (p.Gln1122=)
c.4314G= (p.Gln1438=)
c.4311G= (p.Gln1437=)
c.4230G= (p.Gln1410=)
c.4161G= (p.Gln1387=)
c.4029G= (p.Gln1343=)
c.3897G= (p.Gln1299=)
20g.32436762G>TCA408564333ASXL1c.4050G>T (p.Gln1350His)
c.3867G>T (p.Gln1289His)
n.6403G>T
c.1870-1668G>T (n.1870-1668G>T)
c.4035G>T (p.Gln1345His)
c.4047G>T (p.Gln1349His)
c.4020G>T (p.Gln1340His)
c.3966G>T (p.Gln1322His)
c.3366G>T (p.Gln1122His)
c.4314G>T (p.Gln1438His)
c.4311G>T (p.Gln1437His)
c.4230G>T (p.Gln1410His)
c.4161G>T (p.Gln1387His)
c.4029G>T (p.Gln1343His)
c.3897G>T (p.Gln1299His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436763A=CA2360293857ASXL1c.4051A= (p.Thr1351=)
c.3868A= (p.Thr1290=)
n.6404A=
c.1870-1667A= (n.1870-1667A=)
c.4036A= (p.Thr1346=)
c.4048A= (p.Thr1350=)
c.4021A= (p.Thr1341=)
c.3967A= (p.Thr1323=)
c.3367A= (p.Thr1123=)
c.4315A= (p.Thr1439=)
c.4312A= (p.Thr1438=)
c.4231A= (p.Thr1411=)
c.4162A= (p.Thr1388=)
c.4030A= (p.Thr1344=)
c.3898A= (p.Thr1300=)
20g.32436763A>CCA313926371ASXL1c.4051A>C (p.Thr1351Pro)
c.3868A>C (p.Thr1290Pro)
n.6404A>C
c.1870-1667A>C (n.1870-1667A>C)
c.4036A>C (p.Thr1346Pro)
c.4048A>C (p.Thr1350Pro)
c.4021A>C (p.Thr1341Pro)
c.3967A>C (p.Thr1323Pro)
c.3367A>C (p.Thr1123Pro)
c.4315A>C (p.Thr1439Pro)
c.4312A>C (p.Thr1438Pro)
c.4231A>C (p.Thr1411Pro)
c.4162A>C (p.Thr1388Pro)
c.4030A>C (p.Thr1344Pro)
c.3898A>C (p.Thr1300Pro)
 dbSNP
20g.32436763A>GCA313926372ASXL1c.4051A>G (p.Thr1351Ala)
c.3868A>G (p.Thr1290Ala)
n.6404A>G
c.1870-1667A>G (n.1870-1667A>G)
c.4036A>G (p.Thr1346Ala)
c.4048A>G (p.Thr1350Ala)
c.4021A>G (p.Thr1341Ala)
c.3967A>G (p.Thr1323Ala)
c.3367A>G (p.Thr1123Ala)
c.4315A>G (p.Thr1439Ala)
c.4312A>G (p.Thr1438Ala)
c.4231A>G (p.Thr1411Ala)
c.4162A>G (p.Thr1388Ala)
c.4030A>G (p.Thr1344Ala)
c.3898A>G (p.Thr1300Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436763A>TCA408564334ASXL1c.4051A>T (p.Thr1351Ser)
c.3868A>T (p.Thr1290Ser)
n.6404A>T
c.1870-1667A>T (n.1870-1667A>T)
c.4036A>T (p.Thr1346Ser)
c.4048A>T (p.Thr1350Ser)
c.4021A>T (p.Thr1341Ser)
c.3967A>T (p.Thr1323Ser)
c.3367A>T (p.Thr1123Ser)
c.4315A>T (p.Thr1439Ser)
c.4312A>T (p.Thr1438Ser)
c.4231A>T (p.Thr1411Ser)
c.4162A>T (p.Thr1388Ser)
c.4030A>T (p.Thr1344Ser)
c.3898A>T (p.Thr1300Ser)
20g.32436764C>ACA408564335ASXL1c.4052C>A (p.Thr1351Asn)
c.3869C>A (p.Thr1290Asn)
n.6405C>A
c.1870-1666C>A (n.1870-1666C>A)
c.4037C>A (p.Thr1346Asn)
c.4049C>A (p.Thr1350Asn)
c.4022C>A (p.Thr1341Asn)
c.3968C>A (p.Thr1323Asn)
c.3368C>A (p.Thr1123Asn)
c.4316C>A (p.Thr1439Asn)
c.4313C>A (p.Thr1438Asn)
c.4232C>A (p.Thr1411Asn)
c.4163C>A (p.Thr1388Asn)
c.4031C>A (p.Thr1344Asn)
c.3899C>A (p.Thr1300Asn)
 dbSNP
20g.32436764C=CA2360293858ASXL1c.4052C= (p.Thr1351=)
c.3869C= (p.Thr1290=)
n.6405C=
c.1870-1666C= (n.1870-1666C=)
c.4037C= (p.Thr1346=)
c.4049C= (p.Thr1350=)
c.4022C= (p.Thr1341=)
c.3968C= (p.Thr1323=)
c.3368C= (p.Thr1123=)
c.4316C= (p.Thr1439=)
c.4313C= (p.Thr1438=)
c.4232C= (p.Thr1411=)
c.4163C= (p.Thr1388=)
c.4031C= (p.Thr1344=)
c.3899C= (p.Thr1300=)
20g.32436764C>GCA408564336ASXL1c.4052C>G (p.Thr1351Ser)
c.3869C>G (p.Thr1290Ser)
n.6405C>G
c.1870-1666C>G (n.1870-1666C>G)
c.4037C>G (p.Thr1346Ser)
c.4049C>G (p.Thr1350Ser)
c.4022C>G (p.Thr1341Ser)
c.3968C>G (p.Thr1323Ser)
c.3368C>G (p.Thr1123Ser)
c.4316C>G (p.Thr1439Ser)
c.4313C>G (p.Thr1438Ser)
c.4232C>G (p.Thr1411Ser)
c.4163C>G (p.Thr1388Ser)
c.4031C>G (p.Thr1344Ser)
c.3899C>G (p.Thr1300Ser)
20g.32436764C>TCA408564337ASXL1c.4052C>T (p.Thr1351Ile)
c.3869C>T (p.Thr1290Ile)
n.6405C>T
c.1870-1666C>T (n.1870-1666C>T)
c.4037C>T (p.Thr1346Ile)
c.4049C>T (p.Thr1350Ile)
c.4022C>T (p.Thr1341Ile)
c.3968C>T (p.Thr1323Ile)
c.3368C>T (p.Thr1123Ile)
c.4316C>T (p.Thr1439Ile)
c.4313C>T (p.Thr1438Ile)
c.4232C>T (p.Thr1411Ile)
c.4163C>T (p.Thr1388Ile)
c.4031C>T (p.Thr1344Ile)
c.3899C>T (p.Thr1300Ile)
 dbSNP
20g.32436765T>ACA510467630ASXL1c.4053T>A (p.Thr1351=)
c.3870T>A (p.Thr1290=)
n.6406T>A
c.1870-1665T>A (n.1870-1665T>A)
c.4038T>A (p.Thr1346=)
c.4050T>A (p.Thr1350=)
c.4023T>A (p.Thr1341=)
c.3969T>A (p.Thr1323=)
c.3369T>A (p.Thr1123=)
c.4317T>A (p.Thr1439=)
c.4314T>A (p.Thr1438=)
c.4233T>A (p.Thr1411=)
c.4164T>A (p.Thr1388=)
c.4032T>A (p.Thr1344=)
c.3900T>A (p.Thr1300=)
20g.32436765T>CCA510467631ASXL1c.4053T>C (p.Thr1351=)
c.3870T>C (p.Thr1290=)
n.6406T>C
c.1870-1665T>C (n.1870-1665T>C)
c.4038T>C (p.Thr1346=)
c.4050T>C (p.Thr1350=)
c.4023T>C (p.Thr1341=)
c.3969T>C (p.Thr1323=)
c.3369T>C (p.Thr1123=)
c.4317T>C (p.Thr1439=)
c.4314T>C (p.Thr1438=)
c.4233T>C (p.Thr1411=)
c.4164T>C (p.Thr1388=)
c.4032T>C (p.Thr1344=)
c.3900T>C (p.Thr1300=)
20g.32436765T>GCA510467632ASXL1c.4053T>G (p.Thr1351=)
c.3870T>G (p.Thr1290=)
n.6406T>G
c.1870-1665T>G (n.1870-1665T>G)
c.4038T>G (p.Thr1346=)
c.4050T>G (p.Thr1350=)
c.4023T>G (p.Thr1341=)
c.3969T>G (p.Thr1323=)
c.3369T>G (p.Thr1123=)
c.4317T>G (p.Thr1439=)
c.4314T>G (p.Thr1438=)
c.4233T>G (p.Thr1411=)
c.4164T>G (p.Thr1388=)
c.4032T>G (p.Thr1344=)
c.3900T>G (p.Thr1300=)
20g.32436766C>ACA408564338ASXL1c.4054C>A (p.Pro1352Thr)
c.3871C>A (p.Pro1291Thr)
n.6407C>A
c.1870-1664C>A (n.1870-1664C>A)
c.4039C>A (p.Pro1347Thr)
c.4051C>A (p.Pro1351Thr)
c.4024C>A (p.Pro1342Thr)
c.3970C>A (p.Pro1324Thr)
c.3370C>A (p.Pro1124Thr)
c.4318C>A (p.Pro1440Thr)
c.4315C>A (p.Pro1439Thr)
c.4234C>A (p.Pro1412Thr)
c.4165C>A (p.Pro1389Thr)
c.4033C>A (p.Pro1345Thr)
c.3901C>A (p.Pro1301Thr)
 dbSNP gnomAD v2 gnomAD v4
20g.32436766C=CA2360293859ASXL1c.4054C= (p.Pro1352=)
c.3871C= (p.Pro1291=)
n.6407C=
c.1870-1664C= (n.1870-1664C=)
c.4039C= (p.Pro1347=)
c.4051C= (p.Pro1351=)
c.4024C= (p.Pro1342=)
c.3970C= (p.Pro1324=)
c.3370C= (p.Pro1124=)
c.4318C= (p.Pro1440=)
c.4315C= (p.Pro1439=)
c.4234C= (p.Pro1412=)
c.4165C= (p.Pro1389=)
c.4033C= (p.Pro1345=)
c.3901C= (p.Pro1301=)
20g.32436766C>GCA408564339ASXL1c.4054C>G (p.Pro1352Ala)
c.3871C>G (p.Pro1291Ala)
n.6407C>G
c.1870-1664C>G (n.1870-1664C>G)
c.4039C>G (p.Pro1347Ala)
c.4051C>G (p.Pro1351Ala)
c.4024C>G (p.Pro1342Ala)
c.3970C>G (p.Pro1324Ala)
c.3370C>G (p.Pro1124Ala)
c.4318C>G (p.Pro1440Ala)
c.4315C>G (p.Pro1439Ala)
c.4234C>G (p.Pro1412Ala)
c.4165C>G (p.Pro1389Ala)
c.4033C>G (p.Pro1345Ala)
c.3901C>G (p.Pro1301Ala)
20g.32436766C>TCA408564340ASXL1c.4054C>T (p.Pro1352Ser)
c.3871C>T (p.Pro1291Ser)
n.6407C>T
c.1870-1664C>T (n.1870-1664C>T)
c.4039C>T (p.Pro1347Ser)
c.4051C>T (p.Pro1351Ser)
c.4024C>T (p.Pro1342Ser)
c.3970C>T (p.Pro1324Ser)
c.3370C>T (p.Pro1124Ser)
c.4318C>T (p.Pro1440Ser)
c.4315C>T (p.Pro1439Ser)
c.4234C>T (p.Pro1412Ser)
c.4165C>T (p.Pro1389Ser)
c.4033C>T (p.Pro1345Ser)
c.3901C>T (p.Pro1301Ser)
 gnomAD v4
20g.32436767C>ACA408564341ASXL1c.4055C>A (p.Pro1352Gln)
c.3872C>A (p.Pro1291Gln)
n.6408C>A
c.1870-1663C>A (n.1870-1663C>A)
c.4040C>A (p.Pro1347Gln)
c.4052C>A (p.Pro1351Gln)
c.4025C>A (p.Pro1342Gln)
c.3971C>A (p.Pro1324Gln)
c.3371C>A (p.Pro1124Gln)
c.4319C>A (p.Pro1440Gln)
c.4316C>A (p.Pro1439Gln)
c.4235C>A (p.Pro1412Gln)
c.4166C>A (p.Pro1389Gln)
c.4034C>A (p.Pro1345Gln)
c.3902C>A (p.Pro1301Gln)
 gnomAD v4
20g.32436767C>GCA408564342ASXL1c.4055C>G (p.Pro1352Arg)
c.3872C>G (p.Pro1291Arg)
n.6408C>G
c.1870-1663C>G (n.1870-1663C>G)
c.4040C>G (p.Pro1347Arg)
c.4052C>G (p.Pro1351Arg)
c.4025C>G (p.Pro1342Arg)
c.3971C>G (p.Pro1324Arg)
c.3371C>G (p.Pro1124Arg)
c.4319C>G (p.Pro1440Arg)
c.4316C>G (p.Pro1439Arg)
c.4235C>G (p.Pro1412Arg)
c.4166C>G (p.Pro1389Arg)
c.4034C>G (p.Pro1345Arg)
c.3902C>G (p.Pro1301Arg)
20g.32436767C>TCA408564343ASXL1c.4055C>T (p.Pro1352Leu)
c.3872C>T (p.Pro1291Leu)
n.6408C>T
c.1870-1663C>T (n.1870-1663C>T)
c.4040C>T (p.Pro1347Leu)
c.4052C>T (p.Pro1351Leu)
c.4025C>T (p.Pro1342Leu)
c.3971C>T (p.Pro1324Leu)
c.3371C>T (p.Pro1124Leu)
c.4319C>T (p.Pro1440Leu)
c.4316C>T (p.Pro1439Leu)
c.4235C>T (p.Pro1412Leu)
c.4166C>T (p.Pro1389Leu)
c.4034C>T (p.Pro1345Leu)
c.3902C>T (p.Pro1301Leu)
20g.32436768A>CCA510467636ASXL1c.4056A>C (p.Pro1352=)
c.3873A>C (p.Pro1291=)
n.6409A>C
c.1870-1662A>C (n.1870-1662A>C)
c.4041A>C (p.Pro1347=)
c.4053A>C (p.Pro1351=)
c.4026A>C (p.Pro1342=)
c.3972A>C (p.Pro1324=)
c.3372A>C (p.Pro1124=)
c.4320A>C (p.Pro1440=)
c.4317A>C (p.Pro1439=)
c.4236A>C (p.Pro1412=)
c.4167A>C (p.Pro1389=)
c.4035A>C (p.Pro1345=)
c.3903A>C (p.Pro1301=)
20g.32436768A>GCA510467637ASXL1c.4056A>G (p.Pro1352=)
c.3873A>G (p.Pro1291=)
n.6409A>G
c.1870-1662A>G (n.1870-1662A>G)
c.4041A>G (p.Pro1347=)
c.4053A>G (p.Pro1351=)
c.4026A>G (p.Pro1342=)
c.3972A>G (p.Pro1324=)
c.3372A>G (p.Pro1124=)
c.4320A>G (p.Pro1440=)
c.4317A>G (p.Pro1439=)
c.4236A>G (p.Pro1412=)
c.4167A>G (p.Pro1389=)
c.4035A>G (p.Pro1345=)
c.3903A>G (p.Pro1301=)
20g.32436768A>TCA510467638ASXL1c.4056A>T (p.Pro1352=)
c.3873A>T (p.Pro1291=)
n.6409A>T
c.1870-1662A>T (n.1870-1662A>T)
c.4041A>T (p.Pro1347=)
c.4053A>T (p.Pro1351=)
c.4026A>T (p.Pro1342=)
c.3972A>T (p.Pro1324=)
c.3372A>T (p.Pro1124=)
c.4320A>T (p.Pro1440=)
c.4317A>T (p.Pro1439=)
c.4236A>T (p.Pro1412=)
c.4167A>T (p.Pro1389=)
c.4035A>T (p.Pro1345=)
c.3903A>T (p.Pro1301=)
20g.32436769A>CCA510467609ASXL1c.4057A>C (p.Arg1353=)
c.3874A>C (p.Arg1292=)
n.6410A>C
c.1870-1661A>C (n.1870-1661A>C)
c.4042A>C (p.Arg1348=)
c.4054A>C (p.Arg1352=)
c.4027A>C (p.Arg1343=)
c.3973A>C (p.Arg1325=)
c.3373A>C (p.Arg1125=)
c.4321A>C (p.Arg1441=)
c.4318A>C (p.Arg1440=)
c.4237A>C (p.Arg1413=)
c.4168A>C (p.Arg1390=)
c.4036A>C (p.Arg1346=)
c.3904A>C (p.Arg1302=)
 gnomAD v4
20g.32436769A>GCA408564345ASXL1c.4057A>G (p.Arg1353Gly)
c.3874A>G (p.Arg1292Gly)
n.6410A>G
c.1870-1661A>G (n.1870-1661A>G)
c.4042A>G (p.Arg1348Gly)
c.4054A>G (p.Arg1352Gly)
c.4027A>G (p.Arg1343Gly)
c.3973A>G (p.Arg1325Gly)
c.3373A>G (p.Arg1125Gly)
c.4321A>G (p.Arg1441Gly)
c.4318A>G (p.Arg1440Gly)
c.4237A>G (p.Arg1413Gly)
c.4168A>G (p.Arg1390Gly)
c.4036A>G (p.Arg1346Gly)
c.3904A>G (p.Arg1302Gly)
 gnomAD v4
20g.32436769A>TCA408564344ASXL1c.4057A>T (p.Arg1353Trp)
c.3874A>T (p.Arg1292Trp)
n.6410A>T
c.1870-1661A>T (n.1870-1661A>T)
c.4042A>T (p.Arg1348Trp)
c.4054A>T (p.Arg1352Trp)
c.4027A>T (p.Arg1343Trp)
c.3973A>T (p.Arg1325Trp)
c.3373A>T (p.Arg1125Trp)
c.4321A>T (p.Arg1441Trp)
c.4318A>T (p.Arg1440Trp)
c.4237A>T (p.Arg1413Trp)
c.4168A>T (p.Arg1390Trp)
c.4036A>T (p.Arg1346Trp)
c.3904A>T (p.Arg1302Trp)
20g.32436770G>ACA408564346ASXL1c.4058G>A (p.Arg1353Lys)
c.3875G>A (p.Arg1292Lys)
n.6411G>A
c.1870-1660G>A (n.1870-1660G>A)
c.4043G>A (p.Arg1348Lys)
c.4055G>A (p.Arg1352Lys)
c.4028G>A (p.Arg1343Lys)
c.3974G>A (p.Arg1325Lys)
c.3374G>A (p.Arg1125Lys)
c.4322G>A (p.Arg1441Lys)
c.4319G>A (p.Arg1440Lys)
c.4238G>A (p.Arg1413Lys)
c.4169G>A (p.Arg1390Lys)
c.4037G>A (p.Arg1346Lys)
c.3905G>A (p.Arg1302Lys)
20g.32436770G>CCA408564347ASXL1c.4058G>C (p.Arg1353Thr)
c.3875G>C (p.Arg1292Thr)
n.6411G>C
c.1870-1660G>C (n.1870-1660G>C)
c.4043G>C (p.Arg1348Thr)
c.4055G>C (p.Arg1352Thr)
c.4028G>C (p.Arg1343Thr)
c.3974G>C (p.Arg1325Thr)
c.3374G>C (p.Arg1125Thr)
c.4322G>C (p.Arg1441Thr)
c.4319G>C (p.Arg1440Thr)
c.4238G>C (p.Arg1413Thr)
c.4169G>C (p.Arg1390Thr)
c.4037G>C (p.Arg1346Thr)
c.3905G>C (p.Arg1302Thr)
20g.32436770G>TCA408564348ASXL1c.4058G>T (p.Arg1353Met)
c.3875G>T (p.Arg1292Met)
n.6411G>T
c.1870-1660G>T (n.1870-1660G>T)
c.4043G>T (p.Arg1348Met)
c.4055G>T (p.Arg1352Met)
c.4028G>T (p.Arg1343Met)
c.3974G>T (p.Arg1325Met)
c.3374G>T (p.Arg1125Met)
c.4322G>T (p.Arg1441Met)
c.4319G>T (p.Arg1440Met)
c.4238G>T (p.Arg1413Met)
c.4169G>T (p.Arg1390Met)
c.4037G>T (p.Arg1346Met)
c.3905G>T (p.Arg1302Met)
20g.32436771G>ACA510467615ASXL1c.4059G>A (p.Arg1353=)
c.3876G>A (p.Arg1292=)
n.6412G>A
c.1870-1659G>A (n.1870-1659G>A)
c.4044G>A (p.Arg1348=)
c.4056G>A (p.Arg1352=)
c.4029G>A (p.Arg1343=)
c.3975G>A (p.Arg1325=)
c.3375G>A (p.Arg1125=)
c.4323G>A (p.Arg1441=)
c.4320G>A (p.Arg1440=)
c.4239G>A (p.Arg1413=)
c.4170G>A (p.Arg1390=)
c.4038G>A (p.Arg1346=)
c.3906G>A (p.Arg1302=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436771G>CCA408564349ASXL1c.4059G>C (p.Arg1353Ser)
c.3876G>C (p.Arg1292Ser)
n.6412G>C
c.1870-1659G>C (n.1870-1659G>C)
c.4044G>C (p.Arg1348Ser)
c.4056G>C (p.Arg1352Ser)
c.4029G>C (p.Arg1343Ser)
c.3975G>C (p.Arg1325Ser)
c.3375G>C (p.Arg1125Ser)
c.4323G>C (p.Arg1441Ser)
c.4320G>C (p.Arg1440Ser)
c.4239G>C (p.Arg1413Ser)
c.4170G>C (p.Arg1390Ser)
c.4038G>C (p.Arg1346Ser)
c.3906G>C (p.Arg1302Ser)
20g.32436771G=CA2360293860ASXL1c.4059G= (p.Arg1353=)
c.3876G= (p.Arg1292=)
n.6412G=
c.1870-1659G= (n.1870-1659G=)
c.4044G= (p.Arg1348=)
c.4056G= (p.Arg1352=)
c.4029G= (p.Arg1343=)
c.3975G= (p.Arg1325=)
c.3375G= (p.Arg1125=)
c.4323G= (p.Arg1441=)
c.4320G= (p.Arg1440=)
c.4239G= (p.Arg1413=)
c.4170G= (p.Arg1390=)
c.4038G= (p.Arg1346=)
c.3906G= (p.Arg1302=)
20g.32436771G>TCA408564350ASXL1c.4059G>T (p.Arg1353Ser)
c.3876G>T (p.Arg1292Ser)
n.6412G>T
c.1870-1659G>T (n.1870-1659G>T)
c.4044G>T (p.Arg1348Ser)
c.4056G>T (p.Arg1352Ser)
c.4029G>T (p.Arg1343Ser)
c.3975G>T (p.Arg1325Ser)
c.3375G>T (p.Arg1125Ser)
c.4323G>T (p.Arg1441Ser)
c.4320G>T (p.Arg1440Ser)
c.4239G>T (p.Arg1413Ser)
c.4170G>T (p.Arg1390Ser)
c.4038G>T (p.Arg1346Ser)
c.3906G>T (p.Arg1302Ser)
20g.32436772G>ACA408564351ASXL1c.4060G>A (p.Glu1354Lys)
c.3877G>A (p.Glu1293Lys)
n.6413G>A
c.1870-1658G>A (n.1870-1658G>A)
c.4045G>A (p.Glu1349Lys)
c.4057G>A (p.Glu1353Lys)
c.4030G>A (p.Glu1344Lys)
c.3976G>A (p.Glu1326Lys)
c.3376G>A (p.Glu1126Lys)
c.4324G>A (p.Glu1442Lys)
c.4321G>A (p.Glu1441Lys)
c.4240G>A (p.Glu1414Lys)
c.4171G>A (p.Glu1391Lys)
c.4039G>A (p.Glu1347Lys)
c.3907G>A (p.Glu1303Lys)
 dbSNP
20g.32436772G>CCA408564352ASXL1c.4060G>C (p.Glu1354Gln)
c.3877G>C (p.Glu1293Gln)
n.6413G>C
c.1870-1658G>C (n.1870-1658G>C)
c.4045G>C (p.Glu1349Gln)
c.4057G>C (p.Glu1353Gln)
c.4030G>C (p.Glu1344Gln)
c.3976G>C (p.Glu1326Gln)
c.3376G>C (p.Glu1126Gln)
c.4324G>C (p.Glu1442Gln)
c.4321G>C (p.Glu1441Gln)
c.4240G>C (p.Glu1414Gln)
c.4171G>C (p.Glu1391Gln)
c.4039G>C (p.Glu1347Gln)
c.3907G>C (p.Glu1303Gln)
 dbSNP
20g.32436772G=CA2360293861ASXL1c.4060G= (p.Glu1354=)
c.3877G= (p.Glu1293=)
n.6413G=
c.1870-1658G= (n.1870-1658G=)
c.4045G= (p.Glu1349=)
c.4057G= (p.Glu1353=)
c.4030G= (p.Glu1344=)
c.3976G= (p.Glu1326=)
c.3376G= (p.Glu1126=)
c.4324G= (p.Glu1442=)
c.4321G= (p.Glu1441=)
c.4240G= (p.Glu1414=)
c.4171G= (p.Glu1391=)
c.4039G= (p.Glu1347=)
c.3907G= (p.Glu1303=)
20g.32436772G>TCA408564353ASXL1c.4060G>T (p.Glu1354Ter)
c.3877G>T (p.Glu1293Ter)
n.6413G>T
c.1870-1658G>T (n.1870-1658G>T)
c.4045G>T (p.Glu1349Ter)
c.4057G>T (p.Glu1353Ter)
c.4030G>T (p.Glu1344Ter)
c.3976G>T (p.Glu1326Ter)
c.3376G>T (p.Glu1126Ter)
c.4324G>T (p.Glu1442Ter)
c.4321G>T (p.Glu1441Ter)
c.4240G>T (p.Glu1414Ter)
c.4171G>T (p.Glu1391Ter)
c.4039G>T (p.Glu1347Ter)
c.3907G>T (p.Glu1303Ter)
 ClinVar dbSNP
20g.32436773A>CCA408564354ASXL1c.4061A>C (p.Glu1354Ala)
c.3878A>C (p.Glu1293Ala)
n.6414A>C
c.1870-1657A>C (n.1870-1657A>C)
c.4046A>C (p.Glu1349Ala)
c.4058A>C (p.Glu1353Ala)
c.4031A>C (p.Glu1344Ala)
c.3977A>C (p.Glu1326Ala)
c.3377A>C (p.Glu1126Ala)
c.4325A>C (p.Glu1442Ala)
c.4322A>C (p.Glu1441Ala)
c.4241A>C (p.Glu1414Ala)
c.4172A>C (p.Glu1391Ala)
c.4040A>C (p.Glu1347Ala)
c.3908A>C (p.Glu1303Ala)
20g.32436773A>GCA408564355ASXL1c.4061A>G (p.Glu1354Gly)
c.3878A>G (p.Glu1293Gly)
n.6414A>G
c.1870-1657A>G (n.1870-1657A>G)
c.4046A>G (p.Glu1349Gly)
c.4058A>G (p.Glu1353Gly)
c.4031A>G (p.Glu1344Gly)
c.3977A>G (p.Glu1326Gly)
c.3377A>G (p.Glu1126Gly)
c.4325A>G (p.Glu1442Gly)
c.4322A>G (p.Glu1441Gly)
c.4241A>G (p.Glu1414Gly)
c.4172A>G (p.Glu1391Gly)
c.4040A>G (p.Glu1347Gly)
c.3908A>G (p.Glu1303Gly)
20g.32436773A>TCA408564356ASXL1c.4061A>T (p.Glu1354Val)
c.3878A>T (p.Glu1293Val)
n.6414A>T
c.1870-1657A>T (n.1870-1657A>T)
c.4046A>T (p.Glu1349Val)
c.4058A>T (p.Glu1353Val)
c.4031A>T (p.Glu1344Val)
c.3977A>T (p.Glu1326Val)
c.3377A>T (p.Glu1126Val)
c.4325A>T (p.Glu1442Val)
c.4322A>T (p.Glu1441Val)
c.4241A>T (p.Glu1414Val)
c.4172A>T (p.Glu1391Val)
c.4040A>T (p.Glu1347Val)
c.3908A>T (p.Glu1303Val)
20g.32436774A>CCA408564357ASXL1c.4062A>C (p.Glu1354Asp)
c.3879A>C (p.Glu1293Asp)
n.6415A>C
c.1870-1656A>C (n.1870-1656A>C)
c.4047A>C (p.Glu1349Asp)
c.4059A>C (p.Glu1353Asp)
c.4032A>C (p.Glu1344Asp)
c.3978A>C (p.Glu1326Asp)
c.3378A>C (p.Glu1126Asp)
c.4326A>C (p.Glu1442Asp)
c.4323A>C (p.Glu1441Asp)
c.4242A>C (p.Glu1414Asp)
c.4173A>C (p.Glu1391Asp)
c.4041A>C (p.Glu1347Asp)
c.3909A>C (p.Glu1303Asp)
20g.32436774A>GCA510467626ASXL1c.4062A>G (p.Glu1354=)
c.3879A>G (p.Glu1293=)
n.6415A>G
c.1870-1656A>G (n.1870-1656A>G)
c.4047A>G (p.Glu1349=)
c.4059A>G (p.Glu1353=)
c.4032A>G (p.Glu1344=)
c.3978A>G (p.Glu1326=)
c.3378A>G (p.Glu1126=)
c.4326A>G (p.Glu1442=)
c.4323A>G (p.Glu1441=)
c.4242A>G (p.Glu1414=)
c.4173A>G (p.Glu1391=)
c.4041A>G (p.Glu1347=)
c.3909A>G (p.Glu1303=)
20g.32436774A>TCA408564358ASXL1c.4062A>T (p.Glu1354Asp)
c.3879A>T (p.Glu1293Asp)
n.6415A>T
c.1870-1656A>T (n.1870-1656A>T)
c.4047A>T (p.Glu1349Asp)
c.4059A>T (p.Glu1353Asp)
c.4032A>T (p.Glu1344Asp)
c.3978A>T (p.Glu1326Asp)
c.3378A>T (p.Glu1126Asp)
c.4326A>T (p.Glu1442Asp)
c.4323A>T (p.Glu1441Asp)
c.4242A>T (p.Glu1414Asp)
c.4173A>T (p.Glu1391Asp)
c.4041A>T (p.Glu1347Asp)
c.3909A>T (p.Glu1303Asp)
20g.32436775G>ACA408564359ASXL1c.4063G>A (p.Asp1355Asn)
c.3880G>A (p.Asp1294Asn)
n.6416G>A
c.1870-1655G>A (n.1870-1655G>A)
c.4048G>A (p.Asp1350Asn)
c.4060G>A (p.Asp1354Asn)
c.4033G>A (p.Asp1345Asn)
c.3979G>A (p.Asp1327Asn)
c.3379G>A (p.Asp1127Asn)
c.4327G>A (p.Asp1443Asn)
c.4324G>A (p.Asp1442Asn)
c.4243G>A (p.Asp1415Asn)
c.4174G>A (p.Asp1392Asn)
c.4042G>A (p.Asp1348Asn)
c.3910G>A (p.Asp1304Asn)
20g.32436775G>CCA313926373ASXL1c.4063G>C (p.Asp1355His)
c.3880G>C (p.Asp1294His)
n.6416G>C
c.1870-1655G>C (n.1870-1655G>C)
c.4048G>C (p.Asp1350His)
c.4060G>C (p.Asp1354His)
c.4033G>C (p.Asp1345His)
c.3979G>C (p.Asp1327His)
c.3379G>C (p.Asp1127His)
c.4327G>C (p.Asp1443His)
c.4324G>C (p.Asp1442His)
c.4243G>C (p.Asp1415His)
c.4174G>C (p.Asp1392His)
c.4042G>C (p.Asp1348His)
c.3910G>C (p.Asp1304His)
 dbSNP gnomAD v2 gnomAD v4
20g.32436775G=CA2360293862ASXL1c.4063G= (p.Asp1355=)
c.3880G= (p.Asp1294=)
n.6416G=
c.1870-1655G= (n.1870-1655G=)
c.4048G= (p.Asp1350=)
c.4060G= (p.Asp1354=)
c.4033G= (p.Asp1345=)
c.3979G= (p.Asp1327=)
c.3379G= (p.Asp1127=)
c.4327G= (p.Asp1443=)
c.4324G= (p.Asp1442=)
c.4243G= (p.Asp1415=)
c.4174G= (p.Asp1392=)
c.4042G= (p.Asp1348=)
c.3910G= (p.Asp1304=)
20g.32436775G>TCA408564360ASXL1c.4063G>T (p.Asp1355Tyr)
c.3880G>T (p.Asp1294Tyr)
n.6416G>T
c.1870-1655G>T (n.1870-1655G>T)
c.4048G>T (p.Asp1350Tyr)
c.4060G>T (p.Asp1354Tyr)
c.4033G>T (p.Asp1345Tyr)
c.3979G>T (p.Asp1327Tyr)
c.3379G>T (p.Asp1127Tyr)
c.4327G>T (p.Asp1443Tyr)
c.4324G>T (p.Asp1442Tyr)
c.4243G>T (p.Asp1415Tyr)
c.4174G>T (p.Asp1392Tyr)
c.4042G>T (p.Asp1348Tyr)
c.3910G>T (p.Asp1304Tyr)
 dbSNP gnomAD v2 gnomAD v4
20g.32436776A=CA2360293863ASXL1c.4064A= (p.Asp1355=)
c.3881A= (p.Asp1294=)
n.6417A=
c.1870-1654A= (n.1870-1654A=)
c.4049A= (p.Asp1350=)
c.4061A= (p.Asp1354=)
c.4034A= (p.Asp1345=)
c.3980A= (p.Asp1327=)
c.3380A= (p.Asp1127=)
c.4328A= (p.Asp1443=)
c.4325A= (p.Asp1442=)
c.4244A= (p.Asp1415=)
c.4175A= (p.Asp1392=)
c.4043A= (p.Asp1348=)
c.3911A= (p.Asp1304=)
20g.32436776A>CCA408564361ASXL1c.4064A>C (p.Asp1355Ala)
c.3881A>C (p.Asp1294Ala)
n.6417A>C
c.1870-1654A>C (n.1870-1654A>C)
c.4049A>C (p.Asp1350Ala)
c.4061A>C (p.Asp1354Ala)
c.4034A>C (p.Asp1345Ala)
c.3980A>C (p.Asp1327Ala)
c.3380A>C (p.Asp1127Ala)
c.4328A>C (p.Asp1443Ala)
c.4325A>C (p.Asp1442Ala)
c.4244A>C (p.Asp1415Ala)
c.4175A>C (p.Asp1392Ala)
c.4043A>C (p.Asp1348Ala)
c.3911A>C (p.Asp1304Ala)
20g.32436776A>GCA9808956ASXL1c.4064A>G (p.Asp1355Gly)
c.3881A>G (p.Asp1294Gly)
n.6417A>G
c.1870-1654A>G (n.1870-1654A>G)
c.4049A>G (p.Asp1350Gly)
c.4061A>G (p.Asp1354Gly)
c.4034A>G (p.Asp1345Gly)
c.3980A>G (p.Asp1327Gly)
c.3380A>G (p.Asp1127Gly)
c.4328A>G (p.Asp1443Gly)
c.4325A>G (p.Asp1442Gly)
c.4244A>G (p.Asp1415Gly)
c.4175A>G (p.Asp1392Gly)
c.4043A>G (p.Asp1348Gly)
c.3911A>G (p.Asp1304Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436776A>TCA408564362ASXL1c.4064A>T (p.Asp1355Val)
c.3881A>T (p.Asp1294Val)
n.6417A>T
c.1870-1654A>T (n.1870-1654A>T)
c.4049A>T (p.Asp1350Val)
c.4061A>T (p.Asp1354Val)
c.4034A>T (p.Asp1345Val)
c.3980A>T (p.Asp1327Val)
c.3380A>T (p.Asp1127Val)
c.4328A>T (p.Asp1443Val)
c.4325A>T (p.Asp1442Val)
c.4244A>T (p.Asp1415Val)
c.4175A>T (p.Asp1392Val)
c.4043A>T (p.Asp1348Val)
c.3911A>T (p.Asp1304Val)
20g.32436777C>ACA408564363ASXL1c.4065C>A (p.Asp1355Glu)
c.3882C>A (p.Asp1294Glu)
n.6418C>A
c.1870-1653C>A (n.1870-1653C>A)
c.4050C>A (p.Asp1350Glu)
c.4062C>A (p.Asp1354Glu)
c.4035C>A (p.Asp1345Glu)
c.3981C>A (p.Asp1327Glu)
c.3381C>A (p.Asp1127Glu)
c.4329C>A (p.Asp1443Glu)
c.4326C>A (p.Asp1442Glu)
c.4245C>A (p.Asp1415Glu)
c.4176C>A (p.Asp1392Glu)
c.4044C>A (p.Asp1348Glu)
c.3912C>A (p.Asp1304Glu)
 gnomAD v4
20g.32436777C>GCA408564364ASXL1c.4065C>G (p.Asp1355Glu)
c.3882C>G (p.Asp1294Glu)
n.6418C>G
c.1870-1653C>G (n.1870-1653C>G)
c.4050C>G (p.Asp1350Glu)
c.4062C>G (p.Asp1354Glu)
c.4035C>G (p.Asp1345Glu)
c.3981C>G (p.Asp1327Glu)
c.3381C>G (p.Asp1127Glu)
c.4329C>G (p.Asp1443Glu)
c.4326C>G (p.Asp1442Glu)
c.4245C>G (p.Asp1415Glu)
c.4176C>G (p.Asp1392Glu)
c.4044C>G (p.Asp1348Glu)
c.3912C>G (p.Asp1304Glu)
20g.32436777C>TCA510467629ASXL1c.4065C>T (p.Asp1355=)
c.3882C>T (p.Asp1294=)
n.6418C>T
c.1870-1653C>T (n.1870-1653C>T)
c.4050C>T (p.Asp1350=)
c.4062C>T (p.Asp1354=)
c.4035C>T (p.Asp1345=)
c.3981C>T (p.Asp1327=)
c.3381C>T (p.Asp1127=)
c.4329C>T (p.Asp1443=)
c.4326C>T (p.Asp1442=)
c.4245C>T (p.Asp1415=)
c.4176C>T (p.Asp1392=)
c.4044C>T (p.Asp1348=)
c.3912C>T (p.Asp1304=)
20g.32436778T>ACA408564365ASXL1c.4066T>A (p.Trp1356Arg)
c.3883T>A (p.Trp1295Arg)
n.6419T>A
c.1870-1652T>A (n.1870-1652T>A)
c.4051T>A (p.Trp1351Arg)
c.4063T>A (p.Trp1355Arg)
c.4036T>A (p.Trp1346Arg)
c.3982T>A (p.Trp1328Arg)
c.3382T>A (p.Trp1128Arg)
c.4330T>A (p.Trp1444Arg)
c.4327T>A (p.Trp1443Arg)
c.4246T>A (p.Trp1416Arg)
c.4177T>A (p.Trp1393Arg)
c.4045T>A (p.Trp1349Arg)
c.3913T>A (p.Trp1305Arg)
20g.32436778T>CCA408564366ASXL1c.4066T>C (p.Trp1356Arg)
c.3883T>C (p.Trp1295Arg)
n.6419T>C
c.1870-1652T>C (n.1870-1652T>C)
c.4051T>C (p.Trp1351Arg)
c.4063T>C (p.Trp1355Arg)
c.4036T>C (p.Trp1346Arg)
c.3982T>C (p.Trp1328Arg)
c.3382T>C (p.Trp1128Arg)
c.4330T>C (p.Trp1444Arg)
c.4327T>C (p.Trp1443Arg)
c.4246T>C (p.Trp1416Arg)
c.4177T>C (p.Trp1393Arg)
c.4045T>C (p.Trp1349Arg)
c.3913T>C (p.Trp1305Arg)
20g.32436778T>GCA408564367ASXL1c.4066T>G (p.Trp1356Gly)
c.3883T>G (p.Trp1295Gly)
n.6419T>G
c.1870-1652T>G (n.1870-1652T>G)
c.4051T>G (p.Trp1351Gly)
c.4063T>G (p.Trp1355Gly)
c.4036T>G (p.Trp1346Gly)
c.3982T>G (p.Trp1328Gly)
c.3382T>G (p.Trp1128Gly)
c.4330T>G (p.Trp1444Gly)
c.4327T>G (p.Trp1443Gly)
c.4246T>G (p.Trp1416Gly)
c.4177T>G (p.Trp1393Gly)
c.4045T>G (p.Trp1349Gly)
c.3913T>G (p.Trp1305Gly)
 dbSNP
20g.32436779G>ACA408564368ASXL1c.4067G>A (p.Trp1356Ter)
c.3884G>A (p.Trp1295Ter)
n.6420G>A
c.1870-1651G>A (n.1870-1651G>A)
c.4052G>A (p.Trp1351Ter)
c.4064G>A (p.Trp1355Ter)
c.4037G>A (p.Trp1346Ter)
c.3983G>A (p.Trp1328Ter)
c.3383G>A (p.Trp1128Ter)
c.4331G>A (p.Trp1444Ter)
c.4328G>A (p.Trp1443Ter)
c.4247G>A (p.Trp1416Ter)
c.4178G>A (p.Trp1393Ter)
c.4046G>A (p.Trp1349Ter)
c.3914G>A (p.Trp1305Ter)
20g.32436779G>CCA408564369ASXL1c.4067G>C (p.Trp1356Ser)
c.3884G>C (p.Trp1295Ser)
n.6420G>C
c.1870-1651G>C (n.1870-1651G>C)
c.4052G>C (p.Trp1351Ser)
c.4064G>C (p.Trp1355Ser)
c.4037G>C (p.Trp1346Ser)
c.3983G>C (p.Trp1328Ser)
c.3383G>C (p.Trp1128Ser)
c.4331G>C (p.Trp1444Ser)
c.4328G>C (p.Trp1443Ser)
c.4247G>C (p.Trp1416Ser)
c.4178G>C (p.Trp1393Ser)
c.4046G>C (p.Trp1349Ser)
c.3914G>C (p.Trp1305Ser)
20g.32436779G>TCA408564370ASXL1c.4067G>T (p.Trp1356Leu)
c.3884G>T (p.Trp1295Leu)
n.6420G>T
c.1870-1651G>T (n.1870-1651G>T)
c.4052G>T (p.Trp1351Leu)
c.4064G>T (p.Trp1355Leu)
c.4037G>T (p.Trp1346Leu)
c.3983G>T (p.Trp1328Leu)
c.3383G>T (p.Trp1128Leu)
c.4331G>T (p.Trp1444Leu)
c.4328G>T (p.Trp1443Leu)
c.4247G>T (p.Trp1416Leu)
c.4178G>T (p.Trp1393Leu)
c.4046G>T (p.Trp1349Leu)
c.3914G>T (p.Trp1305Leu)
20g.32436780G>ACA408564371ASXL1c.4068G>A (p.Trp1356Ter)
c.3885G>A (p.Trp1295Ter)
n.6421G>A
c.1870-1650G>A (n.1870-1650G>A)
c.4053G>A (p.Trp1351Ter)
c.4065G>A (p.Trp1355Ter)
c.4038G>A (p.Trp1346Ter)
c.3984G>A (p.Trp1328Ter)
c.3384G>A (p.Trp1128Ter)
c.4332G>A (p.Trp1444Ter)
c.4329G>A (p.Trp1443Ter)
c.4248G>A (p.Trp1416Ter)
c.4179G>A (p.Trp1393Ter)
c.4047G>A (p.Trp1349Ter)
c.3915G>A (p.Trp1305Ter)
 gnomAD v4
20g.32436780G>CCA408564372ASXL1c.4068G>C (p.Trp1356Cys)
c.3885G>C (p.Trp1295Cys)
n.6421G>C
c.1870-1650G>C (n.1870-1650G>C)
c.4053G>C (p.Trp1351Cys)
c.4065G>C (p.Trp1355Cys)
c.4038G>C (p.Trp1346Cys)
c.3984G>C (p.Trp1328Cys)
c.3384G>C (p.Trp1128Cys)
c.4332G>C (p.Trp1444Cys)
c.4329G>C (p.Trp1443Cys)
c.4248G>C (p.Trp1416Cys)
c.4179G>C (p.Trp1393Cys)
c.4047G>C (p.Trp1349Cys)
c.3915G>C (p.Trp1305Cys)
20g.32436780G>TCA408564373ASXL1c.4068G>T (p.Trp1356Cys)
c.3885G>T (p.Trp1295Cys)
n.6421G>T
c.1870-1650G>T (n.1870-1650G>T)
c.4053G>T (p.Trp1351Cys)
c.4065G>T (p.Trp1355Cys)
c.4038G>T (p.Trp1346Cys)
c.3984G>T (p.Trp1328Cys)
c.3384G>T (p.Trp1128Cys)
c.4332G>T (p.Trp1444Cys)
c.4329G>T (p.Trp1443Cys)
c.4248G>T (p.Trp1416Cys)
c.4179G>T (p.Trp1393Cys)
c.4047G>T (p.Trp1349Cys)
c.3915G>T (p.Trp1305Cys)
20g.32436781G>ACA408564376ASXL1c.4069G>A (p.Ala1357Thr)
c.3886G>A (p.Ala1296Thr)
n.6422G>A
c.1870-1649G>A (n.1870-1649G>A)
c.4054G>A (p.Ala1352Thr)
c.4066G>A (p.Ala1356Thr)
c.4039G>A (p.Ala1347Thr)
c.3985G>A (p.Ala1329Thr)
c.3385G>A (p.Ala1129Thr)
c.4333G>A (p.Ala1445Thr)
c.4330G>A (p.Ala1444Thr)
c.4249G>A (p.Ala1417Thr)
c.4180G>A (p.Ala1394Thr)
c.4048G>A (p.Ala1350Thr)
c.3916G>A (p.Ala1306Thr)
 dbSNP COSMIC COSMIC
20g.32436781G>CCA408564375ASXL1c.4069G>C (p.Ala1357Pro)
c.3886G>C (p.Ala1296Pro)
n.6422G>C
c.1870-1649G>C (n.1870-1649G>C)
c.4054G>C (p.Ala1352Pro)
c.4066G>C (p.Ala1356Pro)
c.4039G>C (p.Ala1347Pro)
c.3985G>C (p.Ala1329Pro)
c.3385G>C (p.Ala1129Pro)
c.4333G>C (p.Ala1445Pro)
c.4330G>C (p.Ala1444Pro)
c.4249G>C (p.Ala1417Pro)
c.4180G>C (p.Ala1394Pro)
c.4048G>C (p.Ala1350Pro)
c.3916G>C (p.Ala1306Pro)
 dbSNP gnomAD v2 gnomAD v4
20g.32436781G=CA2360293864ASXL1c.4069G= (p.Ala1357=)
c.3886G= (p.Ala1296=)
n.6422G=
c.1870-1649G= (n.1870-1649G=)
c.4054G= (p.Ala1352=)
c.4066G= (p.Ala1356=)
c.4039G= (p.Ala1347=)
c.3985G= (p.Ala1329=)
c.3385G= (p.Ala1129=)
c.4333G= (p.Ala1445=)
c.4330G= (p.Ala1444=)
c.4249G= (p.Ala1417=)
c.4180G= (p.Ala1394=)
c.4048G= (p.Ala1350=)
c.3916G= (p.Ala1306=)
20g.32436781G>TCA408564374ASXL1c.4069G>T (p.Ala1357Ser)
c.3886G>T (p.Ala1296Ser)
n.6422G>T
c.1870-1649G>T (n.1870-1649G>T)
c.4054G>T (p.Ala1352Ser)
c.4066G>T (p.Ala1356Ser)
c.4039G>T (p.Ala1347Ser)
c.3985G>T (p.Ala1329Ser)
c.3385G>T (p.Ala1129Ser)
c.4333G>T (p.Ala1445Ser)
c.4330G>T (p.Ala1444Ser)
c.4249G>T (p.Ala1417Ser)
c.4180G>T (p.Ala1394Ser)
c.4048G>T (p.Ala1350Ser)
c.3916G>T (p.Ala1306Ser)
20g.32436782C>ACA408564377ASXL1c.4070C>A (p.Ala1357Asp)
c.3887C>A (p.Ala1296Asp)
n.6423C>A
c.1870-1648C>A (n.1870-1648C>A)
c.4055C>A (p.Ala1352Asp)
c.4067C>A (p.Ala1356Asp)
c.4040C>A (p.Ala1347Asp)
c.3986C>A (p.Ala1329Asp)
c.3386C>A (p.Ala1129Asp)
c.4334C>A (p.Ala1445Asp)
c.4331C>A (p.Ala1444Asp)
c.4250C>A (p.Ala1417Asp)
c.4181C>A (p.Ala1394Asp)
c.4049C>A (p.Ala1350Asp)
c.3917C>A (p.Ala1306Asp)
20g.32436782C=CA2360293865ASXL1c.4070C= (p.Ala1357=)
c.3887C= (p.Ala1296=)
n.6423C=
c.1870-1648C= (n.1870-1648C=)
c.4055C= (p.Ala1352=)
c.4067C= (p.Ala1356=)
c.4040C= (p.Ala1347=)
c.3986C= (p.Ala1329=)
c.3386C= (p.Ala1129=)
c.4334C= (p.Ala1445=)
c.4331C= (p.Ala1444=)
c.4250C= (p.Ala1417=)
c.4181C= (p.Ala1394=)
c.4049C= (p.Ala1350=)
c.3917C= (p.Ala1306=)
20g.32436782C>GCA408564378ASXL1c.4070C>G (p.Ala1357Gly)
c.3887C>G (p.Ala1296Gly)
n.6423C>G
c.1870-1648C>G (n.1870-1648C>G)
c.4055C>G (p.Ala1352Gly)
c.4067C>G (p.Ala1356Gly)
c.4040C>G (p.Ala1347Gly)
c.3986C>G (p.Ala1329Gly)
c.3386C>G (p.Ala1129Gly)
c.4334C>G (p.Ala1445Gly)
c.4331C>G (p.Ala1444Gly)
c.4250C>G (p.Ala1417Gly)
c.4181C>G (p.Ala1394Gly)
c.4049C>G (p.Ala1350Gly)
c.3917C>G (p.Ala1306Gly)
20g.32436782C>TCA408564379ASXL1c.4070C>T (p.Ala1357Val)
c.3887C>T (p.Ala1296Val)
n.6423C>T
c.1870-1648C>T (n.1870-1648C>T)
c.4055C>T (p.Ala1352Val)
c.4067C>T (p.Ala1356Val)
c.4040C>T (p.Ala1347Val)
c.3986C>T (p.Ala1329Val)
c.3386C>T (p.Ala1129Val)
c.4334C>T (p.Ala1445Val)
c.4331C>T (p.Ala1444Val)
c.4250C>T (p.Ala1417Val)
c.4181C>T (p.Ala1394Val)
c.4049C>T (p.Ala1350Val)
c.3917C>T (p.Ala1306Val)
 dbSNP gnomAD v4
20g.32436783T>ACA510467642ASXL1c.4071T>A (p.Ala1357=)
c.3888T>A (p.Ala1296=)
n.6424T>A
c.1870-1647T>A (n.1870-1647T>A)
c.4056T>A (p.Ala1352=)
c.4068T>A (p.Ala1356=)
c.4041T>A (p.Ala1347=)
c.3987T>A (p.Ala1329=)
c.3387T>A (p.Ala1129=)
c.4335T>A (p.Ala1445=)
c.4332T>A (p.Ala1444=)
c.4251T>A (p.Ala1417=)
c.4182T>A (p.Ala1394=)
c.4050T>A (p.Ala1350=)
c.3918T>A (p.Ala1306=)
20g.32436783T>CCA510467641ASXL1c.4071T>C (p.Ala1357=)
c.3888T>C (p.Ala1296=)
n.6424T>C
c.1870-1647T>C (n.1870-1647T>C)
c.4056T>C (p.Ala1352=)
c.4068T>C (p.Ala1356=)
c.4041T>C (p.Ala1347=)
c.3987T>C (p.Ala1329=)
c.3387T>C (p.Ala1129=)
c.4335T>C (p.Ala1445=)
c.4332T>C (p.Ala1444=)
c.4251T>C (p.Ala1417=)
c.4182T>C (p.Ala1394=)
c.4050T>C (p.Ala1350=)
c.3918T>C (p.Ala1306=)
20g.32436783T>GCA510467639ASXL1c.4071T>G (p.Ala1357=)
c.3888T>G (p.Ala1296=)
n.6424T>G
c.1870-1647T>G (n.1870-1647T>G)
c.4056T>G (p.Ala1352=)
c.4068T>G (p.Ala1356=)
c.4041T>G (p.Ala1347=)
c.3987T>G (p.Ala1329=)
c.3387T>G (p.Ala1129=)
c.4335T>G (p.Ala1445=)
c.4332T>G (p.Ala1444=)
c.4251T>G (p.Ala1417=)
c.4182T>G (p.Ala1394=)
c.4050T>G (p.Ala1350=)
c.3918T>G (p.Ala1306=)
20g.32436784C>ACA408564380ASXL1c.4072C>A (p.Pro1358Thr)
c.3889C>A (p.Pro1297Thr)
n.6425C>A
c.1870-1646C>A (n.1870-1646C>A)
c.4057C>A (p.Pro1353Thr)
c.4069C>A (p.Pro1357Thr)
c.4042C>A (p.Pro1348Thr)
c.3988C>A (p.Pro1330Thr)
c.3388C>A (p.Pro1130Thr)
c.4336C>A (p.Pro1446Thr)
c.4333C>A (p.Pro1445Thr)
c.4252C>A (p.Pro1418Thr)
c.4183C>A (p.Pro1395Thr)
c.4051C>A (p.Pro1351Thr)
c.3919C>A (p.Pro1307Thr)
20g.32436784C=CA2360293866ASXL1c.4072C= (p.Pro1358=)
c.3889C= (p.Pro1297=)
n.6425C=
c.1870-1646C= (n.1870-1646C=)
c.4057C= (p.Pro1353=)
c.4069C= (p.Pro1357=)
c.4042C= (p.Pro1348=)
c.3988C= (p.Pro1330=)
c.3388C= (p.Pro1130=)
c.4336C= (p.Pro1446=)
c.4333C= (p.Pro1445=)
c.4252C= (p.Pro1418=)
c.4183C= (p.Pro1395=)
c.4051C= (p.Pro1351=)
c.3919C= (p.Pro1307=)
20g.32436784C>GCA9808957ASXL1c.4072C>G (p.Pro1358Ala)
c.3889C>G (p.Pro1297Ala)
n.6425C>G
c.1870-1646C>G (n.1870-1646C>G)
c.4057C>G (p.Pro1353Ala)
c.4069C>G (p.Pro1357Ala)
c.4042C>G (p.Pro1348Ala)
c.3988C>G (p.Pro1330Ala)
c.3388C>G (p.Pro1130Ala)
c.4336C>G (p.Pro1446Ala)
c.4333C>G (p.Pro1445Ala)
c.4252C>G (p.Pro1418Ala)
c.4183C>G (p.Pro1395Ala)
c.4051C>G (p.Pro1351Ala)
c.3919C>G (p.Pro1307Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32436784C>TCA408564381ASXL1c.4072C>T (p.Pro1358Ser)
c.3889C>T (p.Pro1297Ser)
n.6425C>T
c.1870-1646C>T (n.1870-1646C>T)
c.4057C>T (p.Pro1353Ser)
c.4069C>T (p.Pro1357Ser)
c.4042C>T (p.Pro1348Ser)
c.3988C>T (p.Pro1330Ser)
c.3388C>T (p.Pro1130Ser)
c.4336C>T (p.Pro1446Ser)
c.4333C>T (p.Pro1445Ser)
c.4252C>T (p.Pro1418Ser)
c.4183C>T (p.Pro1395Ser)
c.4051C>T (p.Pro1351Ser)
c.3919C>T (p.Pro1307Ser)
20g.32436785C>ACA408564382ASXL1c.4073C>A (p.Pro1358Gln)
c.3890C>A (p.Pro1297Gln)
n.6426C>A
c.1870-1645C>A (n.1870-1645C>A)
c.4058C>A (p.Pro1353Gln)
c.4070C>A (p.Pro1357Gln)
c.4043C>A (p.Pro1348Gln)
c.3989C>A (p.Pro1330Gln)
c.3389C>A (p.Pro1130Gln)
c.4337C>A (p.Pro1446Gln)
c.4334C>A (p.Pro1445Gln)
c.4253C>A (p.Pro1418Gln)
c.4184C>A (p.Pro1395Gln)
c.4052C>A (p.Pro1351Gln)
c.3920C>A (p.Pro1307Gln)
 dbSNP
20g.32436785C=CA2360293867ASXL1c.4073C= (p.Pro1358=)
c.3890C= (p.Pro1297=)
n.6426C=
c.1870-1645C= (n.1870-1645C=)
c.4058C= (p.Pro1353=)
c.4070C= (p.Pro1357=)
c.4043C= (p.Pro1348=)
c.3989C= (p.Pro1330=)
c.3389C= (p.Pro1130=)
c.4337C= (p.Pro1446=)
c.4334C= (p.Pro1445=)
c.4253C= (p.Pro1418=)
c.4184C= (p.Pro1395=)
c.4052C= (p.Pro1351=)
c.3920C= (p.Pro1307=)
20g.32436785C>GCA408564383ASXL1c.4073C>G (p.Pro1358Arg)
c.3890C>G (p.Pro1297Arg)
n.6426C>G
c.1870-1645C>G (n.1870-1645C>G)
c.4058C>G (p.Pro1353Arg)
c.4070C>G (p.Pro1357Arg)
c.4043C>G (p.Pro1348Arg)
c.3989C>G (p.Pro1330Arg)
c.3389C>G (p.Pro1130Arg)
c.4337C>G (p.Pro1446Arg)
c.4334C>G (p.Pro1445Arg)
c.4253C>G (p.Pro1418Arg)
c.4184C>G (p.Pro1395Arg)
c.4052C>G (p.Pro1351Arg)
c.3920C>G (p.Pro1307Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436785C>TCA408564384ASXL1c.4073C>T (p.Pro1358Leu)
c.3890C>T (p.Pro1297Leu)
n.6426C>T
c.1870-1645C>T (n.1870-1645C>T)
c.4058C>T (p.Pro1353Leu)
c.4070C>T (p.Pro1357Leu)
c.4043C>T (p.Pro1348Leu)
c.3989C>T (p.Pro1330Leu)
c.3389C>T (p.Pro1130Leu)
c.4337C>T (p.Pro1446Leu)
c.4334C>T (p.Pro1445Leu)
c.4253C>T (p.Pro1418Leu)
c.4184C>T (p.Pro1395Leu)
c.4052C>T (p.Pro1351Leu)
c.3920C>T (p.Pro1307Leu)
 gnomAD v4
20g.32436786A>CCA510467643ASXL1c.4074A>C (p.Pro1358=)
c.3891A>C (p.Pro1297=)
n.6427A>C
c.1870-1644A>C (n.1870-1644A>C)
c.4059A>C (p.Pro1353=)
c.4071A>C (p.Pro1357=)
c.4044A>C (p.Pro1348=)
c.3990A>C (p.Pro1330=)
c.3390A>C (p.Pro1130=)
c.4338A>C (p.Pro1446=)
c.4335A>C (p.Pro1445=)
c.4254A>C (p.Pro1418=)
c.4185A>C (p.Pro1395=)
c.4053A>C (p.Pro1351=)
c.3921A>C (p.Pro1307=)
20g.32436786A>GCA510467644ASXL1c.4074A>G (p.Pro1358=)
c.3891A>G (p.Pro1297=)
n.6427A>G
c.1870-1644A>G (n.1870-1644A>G)
c.4059A>G (p.Pro1353=)
c.4071A>G (p.Pro1357=)
c.4044A>G (p.Pro1348=)
c.3990A>G (p.Pro1330=)
c.3390A>G (p.Pro1130=)
c.4338A>G (p.Pro1446=)
c.4335A>G (p.Pro1445=)
c.4254A>G (p.Pro1418=)
c.4185A>G (p.Pro1395=)
c.4053A>G (p.Pro1351=)
c.3921A>G (p.Pro1307=)
20g.32436786A>TCA510467646ASXL1c.4074A>T (p.Pro1358=)
c.3891A>T (p.Pro1297=)
n.6427A>T
c.1870-1644A>T (n.1870-1644A>T)
c.4059A>T (p.Pro1353=)
c.4071A>T (p.Pro1357=)
c.4044A>T (p.Pro1348=)
c.3990A>T (p.Pro1330=)
c.3390A>T (p.Pro1130=)
c.4338A>T (p.Pro1446=)
c.4335A>T (p.Pro1445=)
c.4254A>T (p.Pro1418=)
c.4185A>T (p.Pro1395=)
c.4053A>T (p.Pro1351=)
c.3921A>T (p.Pro1307=)

Number of alleles fetched