Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.32436355C>ACA408563493ASXL1c.3643C>A (p.Pro1215Thr)
c.3460C>A (p.Pro1154Thr)
n.5996C>A
c.1869+1774C>A (n.1869+1774C>A)
c.3628C>A (p.Pro1210Thr)
c.3640C>A (p.Pro1214Thr)
c.3613C>A (p.Pro1205Thr)
c.3559C>A (p.Pro1187Thr)
c.2959C>A (p.Pro987Thr)
c.3907C>A (p.Pro1303Thr)
c.3904C>A (p.Pro1302Thr)
c.3823C>A (p.Pro1275Thr)
c.3754C>A (p.Pro1252Thr)
c.3622C>A (p.Pro1208Thr)
c.3490C>A (p.Pro1164Thr)
20g.32436355C>GCA408563494ASXL1c.3643C>G (p.Pro1215Ala)
c.3460C>G (p.Pro1154Ala)
n.5996C>G
c.1869+1774C>G (n.1869+1774C>G)
c.3628C>G (p.Pro1210Ala)
c.3640C>G (p.Pro1214Ala)
c.3613C>G (p.Pro1205Ala)
c.3559C>G (p.Pro1187Ala)
c.2959C>G (p.Pro987Ala)
c.3907C>G (p.Pro1303Ala)
c.3904C>G (p.Pro1302Ala)
c.3823C>G (p.Pro1275Ala)
c.3754C>G (p.Pro1252Ala)
c.3622C>G (p.Pro1208Ala)
c.3490C>G (p.Pro1164Ala)
 dbSNP
20g.32436355C>TCA408563495ASXL1c.3643C>T (p.Pro1215Ser)
c.3460C>T (p.Pro1154Ser)
n.5996C>T
c.1869+1774C>T (n.1869+1774C>T)
c.3628C>T (p.Pro1210Ser)
c.3640C>T (p.Pro1214Ser)
c.3613C>T (p.Pro1205Ser)
c.3559C>T (p.Pro1187Ser)
c.2959C>T (p.Pro987Ser)
c.3907C>T (p.Pro1303Ser)
c.3904C>T (p.Pro1302Ser)
c.3823C>T (p.Pro1275Ser)
c.3754C>T (p.Pro1252Ser)
c.3622C>T (p.Pro1208Ser)
c.3490C>T (p.Pro1164Ser)
 dbSNP gnomAD v4
20g.32436356C>ACA408563496ASXL1c.3644C>A (p.Pro1215Gln)
c.3461C>A (p.Pro1154Gln)
n.5997C>A
c.1869+1775C>A (n.1869+1775C>A)
c.3629C>A (p.Pro1210Gln)
c.3641C>A (p.Pro1214Gln)
c.3614C>A (p.Pro1205Gln)
c.3560C>A (p.Pro1187Gln)
c.2960C>A (p.Pro987Gln)
c.3908C>A (p.Pro1303Gln)
c.3905C>A (p.Pro1302Gln)
c.3824C>A (p.Pro1275Gln)
c.3755C>A (p.Pro1252Gln)
c.3623C>A (p.Pro1208Gln)
c.3491C>A (p.Pro1164Gln)
20g.32436356C>GCA408563497ASXL1c.3644C>G (p.Pro1215Arg)
c.3461C>G (p.Pro1154Arg)
n.5997C>G
c.1869+1775C>G (n.1869+1775C>G)
c.3629C>G (p.Pro1210Arg)
c.3641C>G (p.Pro1214Arg)
c.3614C>G (p.Pro1205Arg)
c.3560C>G (p.Pro1187Arg)
c.2960C>G (p.Pro987Arg)
c.3908C>G (p.Pro1303Arg)
c.3905C>G (p.Pro1302Arg)
c.3824C>G (p.Pro1275Arg)
c.3755C>G (p.Pro1252Arg)
c.3623C>G (p.Pro1208Arg)
c.3491C>G (p.Pro1164Arg)
20g.32436356C>TCA408563498ASXL1c.3644C>T (p.Pro1215Leu)
c.3461C>T (p.Pro1154Leu)
n.5997C>T
c.1869+1775C>T (n.1869+1775C>T)
c.3629C>T (p.Pro1210Leu)
c.3641C>T (p.Pro1214Leu)
c.3614C>T (p.Pro1205Leu)
c.3560C>T (p.Pro1187Leu)
c.2960C>T (p.Pro987Leu)
c.3908C>T (p.Pro1303Leu)
c.3905C>T (p.Pro1302Leu)
c.3824C>T (p.Pro1275Leu)
c.3755C>T (p.Pro1252Leu)
c.3623C>T (p.Pro1208Leu)
c.3491C>T (p.Pro1164Leu)
20g.32436357A>CCA510467377ASXL1c.3645A>C (p.Pro1215=)
c.3462A>C (p.Pro1154=)
n.5998A>C
c.1869+1776A>C (n.1869+1776A>C)
c.3630A>C (p.Pro1210=)
c.3642A>C (p.Pro1214=)
c.3615A>C (p.Pro1205=)
c.3561A>C (p.Pro1187=)
c.2961A>C (p.Pro987=)
c.3909A>C (p.Pro1303=)
c.3906A>C (p.Pro1302=)
c.3825A>C (p.Pro1275=)
c.3756A>C (p.Pro1252=)
c.3624A>C (p.Pro1208=)
c.3492A>C (p.Pro1164=)
20g.32436357A>GCA510467378ASXL1c.3645A>G (p.Pro1215=)
c.3462A>G (p.Pro1154=)
n.5998A>G
c.1869+1776A>G (n.1869+1776A>G)
c.3630A>G (p.Pro1210=)
c.3642A>G (p.Pro1214=)
c.3615A>G (p.Pro1205=)
c.3561A>G (p.Pro1187=)
c.2961A>G (p.Pro987=)
c.3909A>G (p.Pro1303=)
c.3906A>G (p.Pro1302=)
c.3825A>G (p.Pro1275=)
c.3756A>G (p.Pro1252=)
c.3624A>G (p.Pro1208=)
c.3492A>G (p.Pro1164=)
 gnomAD v4
20g.32436357A>TCA510467379ASXL1c.3645A>T (p.Pro1215=)
c.3462A>T (p.Pro1154=)
n.5998A>T
c.1869+1776A>T (n.1869+1776A>T)
c.3630A>T (p.Pro1210=)
c.3642A>T (p.Pro1214=)
c.3615A>T (p.Pro1205=)
c.3561A>T (p.Pro1187=)
c.2961A>T (p.Pro987=)
c.3909A>T (p.Pro1303=)
c.3906A>T (p.Pro1302=)
c.3825A>T (p.Pro1275=)
c.3756A>T (p.Pro1252=)
c.3624A>T (p.Pro1208=)
c.3492A>T (p.Pro1164=)
20g.32436358G>ACA408563499ASXL1c.3646G>A (p.Val1216Met)
c.3463G>A (p.Val1155Met)
n.5999G>A
c.1869+1777G>A (n.1869+1777G>A)
c.3631G>A (p.Val1211Met)
c.3643G>A (p.Val1215Met)
c.3616G>A (p.Val1206Met)
c.3562G>A (p.Val1188Met)
c.2962G>A (p.Val988Met)
c.3910G>A (p.Val1304Met)
c.3907G>A (p.Val1303Met)
c.3826G>A (p.Val1276Met)
c.3757G>A (p.Val1253Met)
c.3625G>A (p.Val1209Met)
c.3493G>A (p.Val1165Met)
 gnomAD v4
20g.32436358G>CCA9808868ASXL1c.3646G>C (p.Val1216Leu)
c.3463G>C (p.Val1155Leu)
n.5999G>C
c.1869+1777G>C (n.1869+1777G>C)
c.3631G>C (p.Val1211Leu)
c.3643G>C (p.Val1215Leu)
c.3616G>C (p.Val1206Leu)
c.3562G>C (p.Val1188Leu)
c.2962G>C (p.Val988Leu)
c.3910G>C (p.Val1304Leu)
c.3907G>C (p.Val1303Leu)
c.3826G>C (p.Val1276Leu)
c.3757G>C (p.Val1253Leu)
c.3625G>C (p.Val1209Leu)
c.3493G>C (p.Val1165Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436358G=CA2360293664ASXL1c.3646G= (p.Val1216=)
c.3463G= (p.Val1155=)
n.5999G=
c.1869+1777G= (n.1869+1777G=)
c.3631G= (p.Val1211=)
c.3643G= (p.Val1215=)
c.3616G= (p.Val1206=)
c.3562G= (p.Val1188=)
c.2962G= (p.Val988=)
c.3910G= (p.Val1304=)
c.3907G= (p.Val1303=)
c.3826G= (p.Val1276=)
c.3757G= (p.Val1253=)
c.3625G= (p.Val1209=)
c.3493G= (p.Val1165=)
20g.32436358G>TCA408563500ASXL1c.3646G>T (p.Val1216Leu)
c.3463G>T (p.Val1155Leu)
n.5999G>T
c.1869+1777G>T (n.1869+1777G>T)
c.3631G>T (p.Val1211Leu)
c.3643G>T (p.Val1215Leu)
c.3616G>T (p.Val1206Leu)
c.3562G>T (p.Val1188Leu)
c.2962G>T (p.Val988Leu)
c.3910G>T (p.Val1304Leu)
c.3907G>T (p.Val1303Leu)
c.3826G>T (p.Val1276Leu)
c.3757G>T (p.Val1253Leu)
c.3625G>T (p.Val1209Leu)
c.3493G>T (p.Val1165Leu)
20g.32436359T>ACA408563501ASXL1c.3647T>A (p.Val1216Glu)
c.3464T>A (p.Val1155Glu)
n.6000T>A
c.1869+1778T>A (n.1869+1778T>A)
c.3632T>A (p.Val1211Glu)
c.3644T>A (p.Val1215Glu)
c.3617T>A (p.Val1206Glu)
c.3563T>A (p.Val1188Glu)
c.2963T>A (p.Val988Glu)
c.3911T>A (p.Val1304Glu)
c.3908T>A (p.Val1303Glu)
c.3827T>A (p.Val1276Glu)
c.3758T>A (p.Val1253Glu)
c.3626T>A (p.Val1209Glu)
c.3494T>A (p.Val1165Glu)
20g.32436359T>CCA408563502ASXL1c.3647T>C (p.Val1216Ala)
c.3464T>C (p.Val1155Ala)
n.6000T>C
c.1869+1778T>C (n.1869+1778T>C)
c.3632T>C (p.Val1211Ala)
c.3644T>C (p.Val1215Ala)
c.3617T>C (p.Val1206Ala)
c.3563T>C (p.Val1188Ala)
c.2963T>C (p.Val988Ala)
c.3911T>C (p.Val1304Ala)
c.3908T>C (p.Val1303Ala)
c.3827T>C (p.Val1276Ala)
c.3758T>C (p.Val1253Ala)
c.3626T>C (p.Val1209Ala)
c.3494T>C (p.Val1165Ala)
20g.32436359T>GCA408563503ASXL1c.3647T>G (p.Val1216Gly)
c.3464T>G (p.Val1155Gly)
n.6000T>G
c.1869+1778T>G (n.1869+1778T>G)
c.3632T>G (p.Val1211Gly)
c.3644T>G (p.Val1215Gly)
c.3617T>G (p.Val1206Gly)
c.3563T>G (p.Val1188Gly)
c.2963T>G (p.Val988Gly)
c.3911T>G (p.Val1304Gly)
c.3908T>G (p.Val1303Gly)
c.3827T>G (p.Val1276Gly)
c.3758T>G (p.Val1253Gly)
c.3626T>G (p.Val1209Gly)
c.3494T>G (p.Val1165Gly)
20g.32436360G>ACA510467382ASXL1c.3648G>A (p.Val1216=)
c.3465G>A (p.Val1155=)
n.6001G>A
c.1869+1779G>A (n.1869+1779G>A)
c.3633G>A (p.Val1211=)
c.3645G>A (p.Val1215=)
c.3618G>A (p.Val1206=)
c.3564G>A (p.Val1188=)
c.2964G>A (p.Val988=)
c.3912G>A (p.Val1304=)
c.3909G>A (p.Val1303=)
c.3828G>A (p.Val1276=)
c.3759G>A (p.Val1253=)
c.3627G>A (p.Val1209=)
c.3495G>A (p.Val1165=)
20g.32436360G>CCA510467384ASXL1c.3648G>C (p.Val1216=)
c.3465G>C (p.Val1155=)
n.6001G>C
c.1869+1779G>C (n.1869+1779G>C)
c.3633G>C (p.Val1211=)
c.3645G>C (p.Val1215=)
c.3618G>C (p.Val1206=)
c.3564G>C (p.Val1188=)
c.2964G>C (p.Val988=)
c.3912G>C (p.Val1304=)
c.3909G>C (p.Val1303=)
c.3828G>C (p.Val1276=)
c.3759G>C (p.Val1253=)
c.3627G>C (p.Val1209=)
c.3495G>C (p.Val1165=)
 dbSNP
20g.32436360G>TCA510467385ASXL1c.3648G>T (p.Val1216=)
c.3465G>T (p.Val1155=)
n.6001G>T
c.1869+1779G>T (n.1869+1779G>T)
c.3633G>T (p.Val1211=)
c.3645G>T (p.Val1215=)
c.3618G>T (p.Val1206=)
c.3564G>T (p.Val1188=)
c.2964G>T (p.Val988=)
c.3912G>T (p.Val1304=)
c.3909G>T (p.Val1303=)
c.3828G>T (p.Val1276=)
c.3759G>T (p.Val1253=)
c.3627G>T (p.Val1209=)
c.3495G>T (p.Val1165=)
20g.32436361A>CCA408563504ASXL1c.3649A>C (p.Thr1217Pro)
c.3466A>C (p.Thr1156Pro)
n.6002A>C
c.1869+1780A>C (n.1869+1780A>C)
c.3634A>C (p.Thr1212Pro)
c.3646A>C (p.Thr1216Pro)
c.3619A>C (p.Thr1207Pro)
c.3565A>C (p.Thr1189Pro)
c.2965A>C (p.Thr989Pro)
c.3913A>C (p.Thr1305Pro)
c.3910A>C (p.Thr1304Pro)
c.3829A>C (p.Thr1277Pro)
c.3760A>C (p.Thr1254Pro)
c.3628A>C (p.Thr1210Pro)
c.3496A>C (p.Thr1166Pro)
20g.32436361A>GCA408563505ASXL1c.3649A>G (p.Thr1217Ala)
c.3466A>G (p.Thr1156Ala)
n.6002A>G
c.1869+1780A>G (n.1869+1780A>G)
c.3634A>G (p.Thr1212Ala)
c.3646A>G (p.Thr1216Ala)
c.3619A>G (p.Thr1207Ala)
c.3565A>G (p.Thr1189Ala)
c.2965A>G (p.Thr989Ala)
c.3913A>G (p.Thr1305Ala)
c.3910A>G (p.Thr1304Ala)
c.3829A>G (p.Thr1277Ala)
c.3760A>G (p.Thr1254Ala)
c.3628A>G (p.Thr1210Ala)
c.3496A>G (p.Thr1166Ala)
 gnomAD v4
20g.32436361A>TCA408563506ASXL1c.3649A>T (p.Thr1217Ser)
c.3466A>T (p.Thr1156Ser)
n.6002A>T
c.1869+1780A>T (n.1869+1780A>T)
c.3634A>T (p.Thr1212Ser)
c.3646A>T (p.Thr1216Ser)
c.3619A>T (p.Thr1207Ser)
c.3565A>T (p.Thr1189Ser)
c.2965A>T (p.Thr989Ser)
c.3913A>T (p.Thr1305Ser)
c.3910A>T (p.Thr1304Ser)
c.3829A>T (p.Thr1277Ser)
c.3760A>T (p.Thr1254Ser)
c.3628A>T (p.Thr1210Ser)
c.3496A>T (p.Thr1166Ser)
20g.32436362C>ACA408563507ASXL1c.3650C>A (p.Thr1217Lys)
c.3467C>A (p.Thr1156Lys)
n.6003C>A
c.1869+1781C>A (n.1869+1781C>A)
c.3635C>A (p.Thr1212Lys)
c.3647C>A (p.Thr1216Lys)
c.3620C>A (p.Thr1207Lys)
c.3566C>A (p.Thr1189Lys)
c.2966C>A (p.Thr989Lys)
c.3914C>A (p.Thr1305Lys)
c.3911C>A (p.Thr1304Lys)
c.3830C>A (p.Thr1277Lys)
c.3761C>A (p.Thr1254Lys)
c.3629C>A (p.Thr1210Lys)
c.3497C>A (p.Thr1166Lys)
20g.32436362C=CA2360293665ASXL1c.3650C= (p.Thr1217=)
c.3467C= (p.Thr1156=)
n.6003C=
c.1869+1781C= (n.1869+1781C=)
c.3635C= (p.Thr1212=)
c.3647C= (p.Thr1216=)
c.3620C= (p.Thr1207=)
c.3566C= (p.Thr1189=)
c.2966C= (p.Thr989=)
c.3914C= (p.Thr1305=)
c.3911C= (p.Thr1304=)
c.3830C= (p.Thr1277=)
c.3761C= (p.Thr1254=)
c.3629C= (p.Thr1210=)
c.3497C= (p.Thr1166=)
20g.32436362C>GCA408563508ASXL1c.3650C>G (p.Thr1217Arg)
c.3467C>G (p.Thr1156Arg)
n.6003C>G
c.1869+1781C>G (n.1869+1781C>G)
c.3635C>G (p.Thr1212Arg)
c.3647C>G (p.Thr1216Arg)
c.3620C>G (p.Thr1207Arg)
c.3566C>G (p.Thr1189Arg)
c.2966C>G (p.Thr989Arg)
c.3914C>G (p.Thr1305Arg)
c.3911C>G (p.Thr1304Arg)
c.3830C>G (p.Thr1277Arg)
c.3761C>G (p.Thr1254Arg)
c.3629C>G (p.Thr1210Arg)
c.3497C>G (p.Thr1166Arg)
20g.32436362C>TCA408563509ASXL1c.3650C>T (p.Thr1217Ile)
c.3467C>T (p.Thr1156Ile)
n.6003C>T
c.1869+1781C>T (n.1869+1781C>T)
c.3635C>T (p.Thr1212Ile)
c.3647C>T (p.Thr1216Ile)
c.3620C>T (p.Thr1207Ile)
c.3566C>T (p.Thr1189Ile)
c.2966C>T (p.Thr989Ile)
c.3914C>T (p.Thr1305Ile)
c.3911C>T (p.Thr1304Ile)
c.3830C>T (p.Thr1277Ile)
c.3761C>T (p.Thr1254Ile)
c.3629C>T (p.Thr1210Ile)
c.3497C>T (p.Thr1166Ile)
20g.32436363A>CCA510467391ASXL1c.3651A>C (p.Thr1217=)
c.3468A>C (p.Thr1156=)
n.6004A>C
c.1869+1782A>C (n.1869+1782A>C)
c.3636A>C (p.Thr1212=)
c.3648A>C (p.Thr1216=)
c.3621A>C (p.Thr1207=)
c.3567A>C (p.Thr1189=)
c.2967A>C (p.Thr989=)
c.3915A>C (p.Thr1305=)
c.3912A>C (p.Thr1304=)
c.3831A>C (p.Thr1277=)
c.3762A>C (p.Thr1254=)
c.3630A>C (p.Thr1210=)
c.3498A>C (p.Thr1166=)
20g.32436363A>GCA510467389ASXL1c.3651A>G (p.Thr1217=)
c.3468A>G (p.Thr1156=)
n.6004A>G
c.1869+1782A>G (n.1869+1782A>G)
c.3636A>G (p.Thr1212=)
c.3648A>G (p.Thr1216=)
c.3621A>G (p.Thr1207=)
c.3567A>G (p.Thr1189=)
c.2967A>G (p.Thr989=)
c.3915A>G (p.Thr1305=)
c.3912A>G (p.Thr1304=)
c.3831A>G (p.Thr1277=)
c.3762A>G (p.Thr1254=)
c.3630A>G (p.Thr1210=)
c.3498A>G (p.Thr1166=)
20g.32436363A>TCA510467387ASXL1c.3651A>T (p.Thr1217=)
c.3468A>T (p.Thr1156=)
n.6004A>T
c.1869+1782A>T (n.1869+1782A>T)
c.3636A>T (p.Thr1212=)
c.3648A>T (p.Thr1216=)
c.3621A>T (p.Thr1207=)
c.3567A>T (p.Thr1189=)
c.2967A>T (p.Thr989=)
c.3915A>T (p.Thr1305=)
c.3912A>T (p.Thr1304=)
c.3831A>T (p.Thr1277=)
c.3762A>T (p.Thr1254=)
c.3630A>T (p.Thr1210=)
c.3498A>T (p.Thr1166=)
20g.32436364_32436365dupCA9808869ASXL1c.3652_3653dup (p.Asn1218LysfsTer?)
c.3469_3470dup (p.Asn1157LysfsTer?)
n.6005_6006dup
c.1869+1783_1869+1784dup (n.1869+1783_1869+1784dup)
c.3637_3638dup (p.Asn1213LysfsTer?)
c.3649_3650dup (p.Asn1217LysfsTer?)
c.3622_3623dup (p.Asn1208LysfsTer?)
c.3568_3569dup (p.Asn1190LysfsTer?)
c.2968_2969dup (p.Asn990LysfsTer?)
c.3916_3917dup (p.Asn1306LysfsTer?)
c.3913_3914dup (p.Asn1305LysfsTer?)
c.3832_3833dup (p.Asn1278LysfsTer?)
c.3763_3764dup (p.Asn1255LysfsTer?)
c.3631_3632dup (p.Asn1211LysfsTer?)
c.3499_3500dup (p.Asn1167LysfsTer?)
 dbSNP ExAC gnomAD v2
20g.32436364_32436365delCA2695229724ASXL1c.3652_3653del (p.Asn1218SerfsTer6)
c.3469_3470del (p.Asn1157SerfsTer6)
n.6005_6006del
c.1869+1783_1869+1784del (n.1869+1783_1869+1784del)
c.3637_3638del (p.Asn1213SerfsTer6)
c.3649_3650del (p.Asn1217SerfsTer6)
c.3622_3623del (p.Asn1208SerfsTer6)
c.3568_3569del (p.Asn1190SerfsTer6)
c.2968_2969del (p.Asn990SerfsTer6)
c.3916_3917del (p.Asn1306SerfsTer6)
c.3913_3914del (p.Asn1305SerfsTer6)
c.3832_3833del (p.Asn1278SerfsTer6)
c.3763_3764del (p.Asn1255SerfsTer6)
c.3631_3632del (p.Asn1211SerfsTer6)
c.3499_3500del (p.Asn1167SerfsTer6)
20g.32436364A>CCA408563512ASXL1c.3652A>C (p.Asn1218His)
c.3469A>C (p.Asn1157His)
n.6005A>C
c.1869+1783A>C (n.1869+1783A>C)
c.3637A>C (p.Asn1213His)
c.3649A>C (p.Asn1217His)
c.3622A>C (p.Asn1208His)
c.3568A>C (p.Asn1190His)
c.2968A>C (p.Asn990His)
c.3916A>C (p.Asn1306His)
c.3913A>C (p.Asn1305His)
c.3832A>C (p.Asn1278His)
c.3763A>C (p.Asn1255His)
c.3631A>C (p.Asn1211His)
c.3499A>C (p.Asn1167His)
20g.32436364A>GCA408563511ASXL1c.3652A>G (p.Asn1218Asp)
c.3469A>G (p.Asn1157Asp)
n.6005A>G
c.1869+1783A>G (n.1869+1783A>G)
c.3637A>G (p.Asn1213Asp)
c.3649A>G (p.Asn1217Asp)
c.3622A>G (p.Asn1208Asp)
c.3568A>G (p.Asn1190Asp)
c.2968A>G (p.Asn990Asp)
c.3916A>G (p.Asn1306Asp)
c.3913A>G (p.Asn1305Asp)
c.3832A>G (p.Asn1278Asp)
c.3763A>G (p.Asn1255Asp)
c.3631A>G (p.Asn1211Asp)
c.3499A>G (p.Asn1167Asp)
20g.32436364A>TCA408563510ASXL1c.3652A>T (p.Asn1218Tyr)
c.3469A>T (p.Asn1157Tyr)
n.6005A>T
c.1869+1783A>T (n.1869+1783A>T)
c.3637A>T (p.Asn1213Tyr)
c.3649A>T (p.Asn1217Tyr)
c.3622A>T (p.Asn1208Tyr)
c.3568A>T (p.Asn1190Tyr)
c.2968A>T (p.Asn990Tyr)
c.3916A>T (p.Asn1306Tyr)
c.3913A>T (p.Asn1305Tyr)
c.3832A>T (p.Asn1278Tyr)
c.3763A>T (p.Asn1255Tyr)
c.3631A>T (p.Asn1211Tyr)
c.3499A>T (p.Asn1167Tyr)
20g.32436365A>CCA408563513ASXL1c.3653A>C (p.Asn1218Thr)
c.3470A>C (p.Asn1157Thr)
n.6006A>C
c.1869+1784A>C (n.1869+1784A>C)
c.3638A>C (p.Asn1213Thr)
c.3650A>C (p.Asn1217Thr)
c.3623A>C (p.Asn1208Thr)
c.3569A>C (p.Asn1190Thr)
c.2969A>C (p.Asn990Thr)
c.3917A>C (p.Asn1306Thr)
c.3914A>C (p.Asn1305Thr)
c.3833A>C (p.Asn1278Thr)
c.3764A>C (p.Asn1255Thr)
c.3632A>C (p.Asn1211Thr)
c.3500A>C (p.Asn1167Thr)
20g.32436365A>GCA408563515ASXL1c.3653A>G (p.Asn1218Ser)
c.3470A>G (p.Asn1157Ser)
n.6006A>G
c.1869+1784A>G (n.1869+1784A>G)
c.3638A>G (p.Asn1213Ser)
c.3650A>G (p.Asn1217Ser)
c.3623A>G (p.Asn1208Ser)
c.3569A>G (p.Asn1190Ser)
c.2969A>G (p.Asn990Ser)
c.3917A>G (p.Asn1306Ser)
c.3914A>G (p.Asn1305Ser)
c.3833A>G (p.Asn1278Ser)
c.3764A>G (p.Asn1255Ser)
c.3632A>G (p.Asn1211Ser)
c.3500A>G (p.Asn1167Ser)
20g.32436365A>TCA408563514ASXL1c.3653A>T (p.Asn1218Ile)
c.3470A>T (p.Asn1157Ile)
n.6006A>T
c.1869+1784A>T (n.1869+1784A>T)
c.3638A>T (p.Asn1213Ile)
c.3650A>T (p.Asn1217Ile)
c.3623A>T (p.Asn1208Ile)
c.3569A>T (p.Asn1190Ile)
c.2969A>T (p.Asn990Ile)
c.3917A>T (p.Asn1306Ile)
c.3914A>T (p.Asn1305Ile)
c.3833A>T (p.Asn1278Ile)
c.3764A>T (p.Asn1255Ile)
c.3632A>T (p.Asn1211Ile)
c.3500A>T (p.Asn1167Ile)
20g.32436366T>ACA408563516ASXL1c.3654T>A (p.Asn1218Lys)
c.3471T>A (p.Asn1157Lys)
n.6007T>A
c.1869+1785T>A (n.1869+1785T>A)
c.3639T>A (p.Asn1213Lys)
c.3651T>A (p.Asn1217Lys)
c.3624T>A (p.Asn1208Lys)
c.3570T>A (p.Asn1190Lys)
c.2970T>A (p.Asn990Lys)
c.3918T>A (p.Asn1306Lys)
c.3915T>A (p.Asn1305Lys)
c.3834T>A (p.Asn1278Lys)
c.3765T>A (p.Asn1255Lys)
c.3633T>A (p.Asn1211Lys)
c.3501T>A (p.Asn1167Lys)
20g.32436366T>CCA510467393ASXL1c.3654T>C (p.Asn1218=)
c.3471T>C (p.Asn1157=)
n.6007T>C
c.1869+1785T>C (n.1869+1785T>C)
c.3639T>C (p.Asn1213=)
c.3651T>C (p.Asn1217=)
c.3624T>C (p.Asn1208=)
c.3570T>C (p.Asn1190=)
c.2970T>C (p.Asn990=)
c.3918T>C (p.Asn1306=)
c.3915T>C (p.Asn1305=)
c.3834T>C (p.Asn1278=)
c.3765T>C (p.Asn1255=)
c.3633T>C (p.Asn1211=)
c.3501T>C (p.Asn1167=)
20g.32436366T>GCA408563517ASXL1c.3654T>G (p.Asn1218Lys)
c.3471T>G (p.Asn1157Lys)
n.6007T>G
c.1869+1785T>G (n.1869+1785T>G)
c.3639T>G (p.Asn1213Lys)
c.3651T>G (p.Asn1217Lys)
c.3624T>G (p.Asn1208Lys)
c.3570T>G (p.Asn1190Lys)
c.2970T>G (p.Asn990Lys)
c.3918T>G (p.Asn1306Lys)
c.3915T>G (p.Asn1305Lys)
c.3834T>G (p.Asn1278Lys)
c.3765T>G (p.Asn1255Lys)
c.3633T>G (p.Asn1211Lys)
c.3501T>G (p.Asn1167Lys)
20g.32436367C>ACA408563518ASXL1c.3655C>A (p.Pro1219Thr)
c.3472C>A (p.Pro1158Thr)
n.6008C>A
c.1869+1786C>A (n.1869+1786C>A)
c.3640C>A (p.Pro1214Thr)
c.3652C>A (p.Pro1218Thr)
c.3625C>A (p.Pro1209Thr)
c.3571C>A (p.Pro1191Thr)
c.2971C>A (p.Pro991Thr)
c.3919C>A (p.Pro1307Thr)
c.3916C>A (p.Pro1306Thr)
c.3835C>A (p.Pro1279Thr)
c.3766C>A (p.Pro1256Thr)
c.3634C>A (p.Pro1212Thr)
c.3502C>A (p.Pro1168Thr)
20g.32436367C=CA2360293666ASXL1c.3655C= (p.Pro1219=)
c.3472C= (p.Pro1158=)
n.6008C=
c.1869+1786C= (n.1869+1786C=)
c.3640C= (p.Pro1214=)
c.3652C= (p.Pro1218=)
c.3625C= (p.Pro1209=)
c.3571C= (p.Pro1191=)
c.2971C= (p.Pro991=)
c.3919C= (p.Pro1307=)
c.3916C= (p.Pro1306=)
c.3835C= (p.Pro1279=)
c.3766C= (p.Pro1256=)
c.3634C= (p.Pro1212=)
c.3502C= (p.Pro1168=)
20g.32436367C>GCA408563519ASXL1c.3655C>G (p.Pro1219Ala)
c.3472C>G (p.Pro1158Ala)
n.6008C>G
c.1869+1786C>G (n.1869+1786C>G)
c.3640C>G (p.Pro1214Ala)
c.3652C>G (p.Pro1218Ala)
c.3625C>G (p.Pro1209Ala)
c.3571C>G (p.Pro1191Ala)
c.2971C>G (p.Pro991Ala)
c.3919C>G (p.Pro1307Ala)
c.3916C>G (p.Pro1306Ala)
c.3835C>G (p.Pro1279Ala)
c.3766C>G (p.Pro1256Ala)
c.3634C>G (p.Pro1212Ala)
c.3502C>G (p.Pro1168Ala)
20g.32436367C>TCA9808870ASXL1c.3655C>T (p.Pro1219Ser)
c.3472C>T (p.Pro1158Ser)
n.6008C>T
c.1869+1786C>T (n.1869+1786C>T)
c.3640C>T (p.Pro1214Ser)
c.3652C>T (p.Pro1218Ser)
c.3625C>T (p.Pro1209Ser)
c.3571C>T (p.Pro1191Ser)
c.2971C>T (p.Pro991Ser)
c.3919C>T (p.Pro1307Ser)
c.3916C>T (p.Pro1306Ser)
c.3835C>T (p.Pro1279Ser)
c.3766C>T (p.Pro1256Ser)
c.3634C>T (p.Pro1212Ser)
c.3502C>T (p.Pro1168Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436368C>ACA408563520ASXL1c.3656C>A (p.Pro1219His)
c.3473C>A (p.Pro1158His)
n.6009C>A
c.1869+1787C>A (n.1869+1787C>A)
c.3641C>A (p.Pro1214His)
c.3653C>A (p.Pro1218His)
c.3626C>A (p.Pro1209His)
c.3572C>A (p.Pro1191His)
c.2972C>A (p.Pro991His)
c.3920C>A (p.Pro1307His)
c.3917C>A (p.Pro1306His)
c.3836C>A (p.Pro1279His)
c.3767C>A (p.Pro1256His)
c.3635C>A (p.Pro1212His)
c.3503C>A (p.Pro1168His)
20g.32436368C>GCA408563521ASXL1c.3656C>G (p.Pro1219Arg)
c.3473C>G (p.Pro1158Arg)
n.6009C>G
c.1869+1787C>G (n.1869+1787C>G)
c.3641C>G (p.Pro1214Arg)
c.3653C>G (p.Pro1218Arg)
c.3626C>G (p.Pro1209Arg)
c.3572C>G (p.Pro1191Arg)
c.2972C>G (p.Pro991Arg)
c.3920C>G (p.Pro1307Arg)
c.3917C>G (p.Pro1306Arg)
c.3836C>G (p.Pro1279Arg)
c.3767C>G (p.Pro1256Arg)
c.3635C>G (p.Pro1212Arg)
c.3503C>G (p.Pro1168Arg)
20g.32436368C>TCA408563522ASXL1c.3656C>T (p.Pro1219Leu)
c.3473C>T (p.Pro1158Leu)
n.6009C>T
c.1869+1787C>T (n.1869+1787C>T)
c.3641C>T (p.Pro1214Leu)
c.3653C>T (p.Pro1218Leu)
c.3626C>T (p.Pro1209Leu)
c.3572C>T (p.Pro1191Leu)
c.2972C>T (p.Pro991Leu)
c.3920C>T (p.Pro1307Leu)
c.3917C>T (p.Pro1306Leu)
c.3836C>T (p.Pro1279Leu)
c.3767C>T (p.Pro1256Leu)
c.3635C>T (p.Pro1212Leu)
c.3503C>T (p.Pro1168Leu)
 gnomAD v4
20g.32436369C>ACA510467396ASXL1c.3657C>A (p.Pro1219=)
c.3474C>A (p.Pro1158=)
n.6010C>A
c.1869+1788C>A (n.1869+1788C>A)
c.3642C>A (p.Pro1214=)
c.3654C>A (p.Pro1218=)
c.3627C>A (p.Pro1209=)
c.3573C>A (p.Pro1191=)
c.2973C>A (p.Pro991=)
c.3921C>A (p.Pro1307=)
c.3918C>A (p.Pro1306=)
c.3837C>A (p.Pro1279=)
c.3768C>A (p.Pro1256=)
c.3636C>A (p.Pro1212=)
c.3504C>A (p.Pro1168=)
20g.32436369C=CA2360293667ASXL1c.3657C= (p.Pro1219=)
c.3474C= (p.Pro1158=)
n.6010C=
c.1869+1788C= (n.1869+1788C=)
c.3642C= (p.Pro1214=)
c.3654C= (p.Pro1218=)
c.3627C= (p.Pro1209=)
c.3573C= (p.Pro1191=)
c.2973C= (p.Pro991=)
c.3921C= (p.Pro1307=)
c.3918C= (p.Pro1306=)
c.3837C= (p.Pro1279=)
c.3768C= (p.Pro1256=)
c.3636C= (p.Pro1212=)
c.3504C= (p.Pro1168=)
20g.32436369C>GCA510467397ASXL1c.3657C>G (p.Pro1219=)
c.3474C>G (p.Pro1158=)
n.6010C>G
c.1869+1788C>G (n.1869+1788C>G)
c.3642C>G (p.Pro1214=)
c.3654C>G (p.Pro1218=)
c.3627C>G (p.Pro1209=)
c.3573C>G (p.Pro1191=)
c.2973C>G (p.Pro991=)
c.3921C>G (p.Pro1307=)
c.3918C>G (p.Pro1306=)
c.3837C>G (p.Pro1279=)
c.3768C>G (p.Pro1256=)
c.3636C>G (p.Pro1212=)
c.3504C>G (p.Pro1168=)
20g.32436369C>TCA510467399ASXL1c.3657C>T (p.Pro1219=)
c.3474C>T (p.Pro1158=)
n.6010C>T
c.1869+1788C>T (n.1869+1788C>T)
c.3642C>T (p.Pro1214=)
c.3654C>T (p.Pro1218=)
c.3627C>T (p.Pro1209=)
c.3573C>T (p.Pro1191=)
c.2973C>T (p.Pro991=)
c.3921C>T (p.Pro1307=)
c.3918C>T (p.Pro1306=)
c.3837C>T (p.Pro1279=)
c.3768C>T (p.Pro1256=)
c.3636C>T (p.Pro1212=)
c.3504C>T (p.Pro1168=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436370A=CA2360293668ASXL1c.3658A= (p.Ile1220=)
c.3475A= (p.Ile1159=)
n.6011A=
c.1869+1789A= (n.1869+1789A=)
c.3643A= (p.Ile1215=)
c.3655A= (p.Ile1219=)
c.3628A= (p.Ile1210=)
c.3574A= (p.Ile1192=)
c.2974A= (p.Ile992=)
c.3922A= (p.Ile1308=)
c.3919A= (p.Ile1307=)
c.3838A= (p.Ile1280=)
c.3769A= (p.Ile1257=)
c.3637A= (p.Ile1213=)
c.3505A= (p.Ile1169=)
20g.32436370A>CCA408563523ASXL1c.3658A>C (p.Ile1220Leu)
c.3475A>C (p.Ile1159Leu)
n.6011A>C
c.1869+1789A>C (n.1869+1789A>C)
c.3643A>C (p.Ile1215Leu)
c.3655A>C (p.Ile1219Leu)
c.3628A>C (p.Ile1210Leu)
c.3574A>C (p.Ile1192Leu)
c.2974A>C (p.Ile992Leu)
c.3922A>C (p.Ile1308Leu)
c.3919A>C (p.Ile1307Leu)
c.3838A>C (p.Ile1280Leu)
c.3769A>C (p.Ile1257Leu)
c.3637A>C (p.Ile1213Leu)
c.3505A>C (p.Ile1169Leu)
20g.32436370A>GCA408563524ASXL1c.3658A>G (p.Ile1220Val)
c.3475A>G (p.Ile1159Val)
n.6011A>G
c.1869+1789A>G (n.1869+1789A>G)
c.3643A>G (p.Ile1215Val)
c.3655A>G (p.Ile1219Val)
c.3628A>G (p.Ile1210Val)
c.3574A>G (p.Ile1192Val)
c.2974A>G (p.Ile992Val)
c.3922A>G (p.Ile1308Val)
c.3919A>G (p.Ile1307Val)
c.3838A>G (p.Ile1280Val)
c.3769A>G (p.Ile1257Val)
c.3637A>G (p.Ile1213Val)
c.3505A>G (p.Ile1169Val)
20g.32436370A>TCA9808871ASXL1c.3658A>T (p.Ile1220Phe)
c.3475A>T (p.Ile1159Phe)
n.6011A>T
c.1869+1789A>T (n.1869+1789A>T)
c.3643A>T (p.Ile1215Phe)
c.3655A>T (p.Ile1219Phe)
c.3628A>T (p.Ile1210Phe)
c.3574A>T (p.Ile1192Phe)
c.2974A>T (p.Ile992Phe)
c.3922A>T (p.Ile1308Phe)
c.3919A>T (p.Ile1307Phe)
c.3838A>T (p.Ile1280Phe)
c.3769A>T (p.Ile1257Phe)
c.3637A>T (p.Ile1213Phe)
c.3505A>T (p.Ile1169Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32436371T>ACA408563525ASXL1c.3659T>A (p.Ile1220Asn)
c.3476T>A (p.Ile1159Asn)
n.6012T>A
c.1869+1790T>A (n.1869+1790T>A)
c.3644T>A (p.Ile1215Asn)
c.3656T>A (p.Ile1219Asn)
c.3629T>A (p.Ile1210Asn)
c.3575T>A (p.Ile1192Asn)
c.2975T>A (p.Ile992Asn)
c.3923T>A (p.Ile1308Asn)
c.3920T>A (p.Ile1307Asn)
c.3839T>A (p.Ile1280Asn)
c.3770T>A (p.Ile1257Asn)
c.3638T>A (p.Ile1213Asn)
c.3506T>A (p.Ile1169Asn)
20g.32436371T>CCA408563526ASXL1c.3659T>C (p.Ile1220Thr)
c.3476T>C (p.Ile1159Thr)
n.6012T>C
c.1869+1790T>C (n.1869+1790T>C)
c.3644T>C (p.Ile1215Thr)
c.3656T>C (p.Ile1219Thr)
c.3629T>C (p.Ile1210Thr)
c.3575T>C (p.Ile1192Thr)
c.2975T>C (p.Ile992Thr)
c.3923T>C (p.Ile1308Thr)
c.3920T>C (p.Ile1307Thr)
c.3839T>C (p.Ile1280Thr)
c.3770T>C (p.Ile1257Thr)
c.3638T>C (p.Ile1213Thr)
c.3506T>C (p.Ile1169Thr)
20g.32436371T>GCA408563527ASXL1c.3659T>G (p.Ile1220Ser)
c.3476T>G (p.Ile1159Ser)
n.6012T>G
c.1869+1790T>G (n.1869+1790T>G)
c.3644T>G (p.Ile1215Ser)
c.3656T>G (p.Ile1219Ser)
c.3629T>G (p.Ile1210Ser)
c.3575T>G (p.Ile1192Ser)
c.2975T>G (p.Ile992Ser)
c.3923T>G (p.Ile1308Ser)
c.3920T>G (p.Ile1307Ser)
c.3839T>G (p.Ile1280Ser)
c.3770T>G (p.Ile1257Ser)
c.3638T>G (p.Ile1213Ser)
c.3506T>G (p.Ile1169Ser)
20g.32436372T>ACA510467400ASXL1c.3660T>A (p.Ile1220=)
c.3477T>A (p.Ile1159=)
n.6013T>A
c.1869+1791T>A (n.1869+1791T>A)
c.3645T>A (p.Ile1215=)
c.3657T>A (p.Ile1219=)
c.3630T>A (p.Ile1210=)
c.3576T>A (p.Ile1192=)
c.2976T>A (p.Ile992=)
c.3924T>A (p.Ile1308=)
c.3921T>A (p.Ile1307=)
c.3840T>A (p.Ile1280=)
c.3771T>A (p.Ile1257=)
c.3639T>A (p.Ile1213=)
c.3507T>A (p.Ile1169=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436372T>CCA510467402ASXL1c.3660T>C (p.Ile1220=)
c.3477T>C (p.Ile1159=)
n.6013T>C
c.1869+1791T>C (n.1869+1791T>C)
c.3645T>C (p.Ile1215=)
c.3657T>C (p.Ile1219=)
c.3630T>C (p.Ile1210=)
c.3576T>C (p.Ile1192=)
c.2976T>C (p.Ile992=)
c.3924T>C (p.Ile1308=)
c.3921T>C (p.Ile1307=)
c.3840T>C (p.Ile1280=)
c.3771T>C (p.Ile1257=)
c.3639T>C (p.Ile1213=)
c.3507T>C (p.Ile1169=)
20g.32436372T>GCA408563528ASXL1c.3660T>G (p.Ile1220Met)
c.3477T>G (p.Ile1159Met)
n.6013T>G
c.1869+1791T>G (n.1869+1791T>G)
c.3645T>G (p.Ile1215Met)
c.3657T>G (p.Ile1219Met)
c.3630T>G (p.Ile1210Met)
c.3576T>G (p.Ile1192Met)
c.2976T>G (p.Ile992Met)
c.3924T>G (p.Ile1308Met)
c.3921T>G (p.Ile1307Met)
c.3840T>G (p.Ile1280Met)
c.3771T>G (p.Ile1257Met)
c.3639T>G (p.Ile1213Met)
c.3507T>G (p.Ile1169Met)
20g.32436372T=CA2360293669ASXL1c.3660T= (p.Ile1220=)
c.3477T= (p.Ile1159=)
n.6013T=
c.1869+1791T= (n.1869+1791T=)
c.3645T= (p.Ile1215=)
c.3657T= (p.Ile1219=)
c.3630T= (p.Ile1210=)
c.3576T= (p.Ile1192=)
c.2976T= (p.Ile992=)
c.3924T= (p.Ile1308=)
c.3921T= (p.Ile1307=)
c.3840T= (p.Ile1280=)
c.3771T= (p.Ile1257=)
c.3639T= (p.Ile1213=)
c.3507T= (p.Ile1169=)
20g.32436373A>CCA408563531ASXL1c.3661A>C (p.Thr1221Pro)
c.3478A>C (p.Thr1160Pro)
n.6014A>C
c.1869+1792A>C (n.1869+1792A>C)
c.3646A>C (p.Thr1216Pro)
c.3658A>C (p.Thr1220Pro)
c.3631A>C (p.Thr1211Pro)
c.3577A>C (p.Thr1193Pro)
c.2977A>C (p.Thr993Pro)
c.3925A>C (p.Thr1309Pro)
c.3922A>C (p.Thr1308Pro)
c.3841A>C (p.Thr1281Pro)
c.3772A>C (p.Thr1258Pro)
c.3640A>C (p.Thr1214Pro)
c.3508A>C (p.Thr1170Pro)
20g.32436373A>GCA408563530ASXL1c.3661A>G (p.Thr1221Ala)
c.3478A>G (p.Thr1160Ala)
n.6014A>G
c.1869+1792A>G (n.1869+1792A>G)
c.3646A>G (p.Thr1216Ala)
c.3658A>G (p.Thr1220Ala)
c.3631A>G (p.Thr1211Ala)
c.3577A>G (p.Thr1193Ala)
c.2977A>G (p.Thr993Ala)
c.3925A>G (p.Thr1309Ala)
c.3922A>G (p.Thr1308Ala)
c.3841A>G (p.Thr1281Ala)
c.3772A>G (p.Thr1258Ala)
c.3640A>G (p.Thr1214Ala)
c.3508A>G (p.Thr1170Ala)
 gnomAD v4
20g.32436373A>TCA408563529ASXL1c.3661A>T (p.Thr1221Ser)
c.3478A>T (p.Thr1160Ser)
n.6014A>T
c.1869+1792A>T (n.1869+1792A>T)
c.3646A>T (p.Thr1216Ser)
c.3658A>T (p.Thr1220Ser)
c.3631A>T (p.Thr1211Ser)
c.3577A>T (p.Thr1193Ser)
c.2977A>T (p.Thr993Ser)
c.3925A>T (p.Thr1309Ser)
c.3922A>T (p.Thr1308Ser)
c.3841A>T (p.Thr1281Ser)
c.3772A>T (p.Thr1258Ser)
c.3640A>T (p.Thr1214Ser)
c.3508A>T (p.Thr1170Ser)
20g.32436374C>ACA157008ASXL1c.3662C>A (p.Thr1221Lys)
c.3479C>A (p.Thr1160Lys)
n.6015C>A
c.1869+1793C>A (n.1869+1793C>A)
c.3647C>A (p.Thr1216Lys)
c.3659C>A (p.Thr1220Lys)
c.3632C>A (p.Thr1211Lys)
c.3578C>A (p.Thr1193Lys)
c.2978C>A (p.Thr993Lys)
c.3926C>A (p.Thr1309Lys)
c.3923C>A (p.Thr1308Lys)
c.3842C>A (p.Thr1281Lys)
c.3773C>A (p.Thr1258Lys)
c.3641C>A (p.Thr1214Lys)
c.3509C>A (p.Thr1170Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436374C=CA2360293670ASXL1c.3662C= (p.Thr1221=)
c.3479C= (p.Thr1160=)
n.6015C=
c.1869+1793C= (n.1869+1793C=)
c.3647C= (p.Thr1216=)
c.3659C= (p.Thr1220=)
c.3632C= (p.Thr1211=)
c.3578C= (p.Thr1193=)
c.2978C= (p.Thr993=)
c.3926C= (p.Thr1309=)
c.3923C= (p.Thr1308=)
c.3842C= (p.Thr1281=)
c.3773C= (p.Thr1258=)
c.3641C= (p.Thr1214=)
c.3509C= (p.Thr1170=)
20g.32436374C>GCA408563532ASXL1c.3662C>G (p.Thr1221Arg)
c.3479C>G (p.Thr1160Arg)
n.6015C>G
c.1869+1793C>G (n.1869+1793C>G)
c.3647C>G (p.Thr1216Arg)
c.3659C>G (p.Thr1220Arg)
c.3632C>G (p.Thr1211Arg)
c.3578C>G (p.Thr1193Arg)
c.2978C>G (p.Thr993Arg)
c.3926C>G (p.Thr1309Arg)
c.3923C>G (p.Thr1308Arg)
c.3842C>G (p.Thr1281Arg)
c.3773C>G (p.Thr1258Arg)
c.3641C>G (p.Thr1214Arg)
c.3509C>G (p.Thr1170Arg)
20g.32436374C>TCA408563533ASXL1c.3662C>T (p.Thr1221Ile)
c.3479C>T (p.Thr1160Ile)
n.6015C>T
c.1869+1793C>T (n.1869+1793C>T)
c.3647C>T (p.Thr1216Ile)
c.3659C>T (p.Thr1220Ile)
c.3632C>T (p.Thr1211Ile)
c.3578C>T (p.Thr1193Ile)
c.2978C>T (p.Thr993Ile)
c.3926C>T (p.Thr1309Ile)
c.3923C>T (p.Thr1308Ile)
c.3842C>T (p.Thr1281Ile)
c.3773C>T (p.Thr1258Ile)
c.3641C>T (p.Thr1214Ile)
c.3509C>T (p.Thr1170Ile)
 dbSNP gnomAD v4
20g.32436375A=CA2360293671ASXL1c.3663A= (p.Thr1221=)
c.3480A= (p.Thr1160=)
n.6016A=
c.1869+1794A= (n.1869+1794A=)
c.3648A= (p.Thr1216=)
c.3660A= (p.Thr1220=)
c.3633A= (p.Thr1211=)
c.3579A= (p.Thr1193=)
c.2979A= (p.Thr993=)
c.3927A= (p.Thr1309=)
c.3924A= (p.Thr1308=)
c.3843A= (p.Thr1281=)
c.3774A= (p.Thr1258=)
c.3642A= (p.Thr1214=)
c.3510A= (p.Thr1170=)
20g.32436375A>CCA9808872ASXL1c.3663A>C (p.Thr1221=)
c.3480A>C (p.Thr1160=)
n.6016A>C
c.1869+1794A>C (n.1869+1794A>C)
c.3648A>C (p.Thr1216=)
c.3660A>C (p.Thr1220=)
c.3633A>C (p.Thr1211=)
c.3579A>C (p.Thr1193=)
c.2979A>C (p.Thr993=)
c.3927A>C (p.Thr1309=)
c.3924A>C (p.Thr1308=)
c.3843A>C (p.Thr1281=)
c.3774A>C (p.Thr1258=)
c.3642A>C (p.Thr1214=)
c.3510A>C (p.Thr1170=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436375A>GCA510467405ASXL1c.3663A>G (p.Thr1221=)
c.3480A>G (p.Thr1160=)
n.6016A>G
c.1869+1794A>G (n.1869+1794A>G)
c.3648A>G (p.Thr1216=)
c.3660A>G (p.Thr1220=)
c.3633A>G (p.Thr1211=)
c.3579A>G (p.Thr1193=)
c.2979A>G (p.Thr993=)
c.3927A>G (p.Thr1309=)
c.3924A>G (p.Thr1308=)
c.3843A>G (p.Thr1281=)
c.3774A>G (p.Thr1258=)
c.3642A>G (p.Thr1214=)
c.3510A>G (p.Thr1170=)
 ClinVar gnomAD v4
20g.32436375A>TCA510467407ASXL1c.3663A>T (p.Thr1221=)
c.3480A>T (p.Thr1160=)
n.6016A>T
c.1869+1794A>T (n.1869+1794A>T)
c.3648A>T (p.Thr1216=)
c.3660A>T (p.Thr1220=)
c.3633A>T (p.Thr1211=)
c.3579A>T (p.Thr1193=)
c.2979A>T (p.Thr993=)
c.3927A>T (p.Thr1309=)
c.3924A>T (p.Thr1308=)
c.3843A>T (p.Thr1281=)
c.3774A>T (p.Thr1258=)
c.3642A>T (p.Thr1214=)
c.3510A>T (p.Thr1170=)
20g.32436376delCA2816151306ASXL1c.3664del (p.Ser1222ProfsTer?)
c.3481del (p.Ser1161ProfsTer?)
n.6017del
c.1869+1795del (n.1869+1795del)
c.3649del (p.Ser1217ProfsTer?)
c.3661del (p.Ser1221ProfsTer?)
c.3634del (p.Ser1212ProfsTer?)
c.3580del (p.Ser1194ProfsTer?)
c.2980del (p.Ser994ProfsTer?)
c.3928del (p.Ser1310ProfsTer?)
c.3925del (p.Ser1309ProfsTer?)
c.3844del (p.Ser1282ProfsTer?)
c.3775del (p.Ser1259ProfsTer?)
c.3643del (p.Ser1215ProfsTer?)
c.3511del (p.Ser1171ProfsTer?)
20g.32436376T>ACA408563534ASXL1c.3664T>A (p.Ser1222Thr)
c.3481T>A (p.Ser1161Thr)
n.6017T>A
c.1869+1795T>A (n.1869+1795T>A)
c.3649T>A (p.Ser1217Thr)
c.3661T>A (p.Ser1221Thr)
c.3634T>A (p.Ser1212Thr)
c.3580T>A (p.Ser1194Thr)
c.2980T>A (p.Ser994Thr)
c.3928T>A (p.Ser1310Thr)
c.3925T>A (p.Ser1309Thr)
c.3844T>A (p.Ser1282Thr)
c.3775T>A (p.Ser1259Thr)
c.3643T>A (p.Ser1215Thr)
c.3511T>A (p.Ser1171Thr)
20g.32436376T>CCA408563535ASXL1c.3664T>C (p.Ser1222Pro)
c.3481T>C (p.Ser1161Pro)
n.6017T>C
c.1869+1795T>C (n.1869+1795T>C)
c.3649T>C (p.Ser1217Pro)
c.3661T>C (p.Ser1221Pro)
c.3634T>C (p.Ser1212Pro)
c.3580T>C (p.Ser1194Pro)
c.2980T>C (p.Ser994Pro)
c.3928T>C (p.Ser1310Pro)
c.3925T>C (p.Ser1309Pro)
c.3844T>C (p.Ser1282Pro)
c.3775T>C (p.Ser1259Pro)
c.3643T>C (p.Ser1215Pro)
c.3511T>C (p.Ser1171Pro)
20g.32436376T>GCA9808873ASXL1c.3664T>G (p.Ser1222Ala)
c.3481T>G (p.Ser1161Ala)
n.6017T>G
c.1869+1795T>G (n.1869+1795T>G)
c.3649T>G (p.Ser1217Ala)
c.3661T>G (p.Ser1221Ala)
c.3634T>G (p.Ser1212Ala)
c.3580T>G (p.Ser1194Ala)
c.2980T>G (p.Ser994Ala)
c.3928T>G (p.Ser1310Ala)
c.3925T>G (p.Ser1309Ala)
c.3844T>G (p.Ser1282Ala)
c.3775T>G (p.Ser1259Ala)
c.3643T>G (p.Ser1215Ala)
c.3511T>G (p.Ser1171Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436376T=CA2360293672ASXL1c.3664T= (p.Ser1222=)
c.3481T= (p.Ser1161=)
n.6017T=
c.1869+1795T= (n.1869+1795T=)
c.3649T= (p.Ser1217=)
c.3661T= (p.Ser1221=)
c.3634T= (p.Ser1212=)
c.3580T= (p.Ser1194=)
c.2980T= (p.Ser994=)
c.3928T= (p.Ser1310=)
c.3925T= (p.Ser1309=)
c.3844T= (p.Ser1282=)
c.3775T= (p.Ser1259=)
c.3643T= (p.Ser1215=)
c.3511T= (p.Ser1171=)
20g.32436378_32436380delCA2652401236ASXL1c.3666_3668del (p.Ser1223del)
c.3483_3485del (p.Ser1162del)
n.6019_6021del
c.1869+1797_1869+1799del (n.1869+1797_1869+1799del)
c.3651_3653del (p.Ser1218del)
c.3663_3665del (p.Ser1222del)
c.3636_3638del (p.Ser1213del)
c.3582_3584del (p.Ser1195del)
c.2982_2984del (p.Ser995del)
c.3930_3932del (p.Ser1311del)
c.3927_3929del (p.Ser1310del)
c.3846_3848del (p.Ser1283del)
c.3777_3779del (p.Ser1260del)
c.3645_3647del (p.Ser1216del)
c.3513_3515del (p.Ser1172del)
 gnomAD v4
20g.32436377C>ACA408563536ASXL1c.3665C>A (p.Ser1222Tyr)
c.3482C>A (p.Ser1161Tyr)
n.6018C>A
c.1869+1796C>A (n.1869+1796C>A)
c.3650C>A (p.Ser1217Tyr)
c.3662C>A (p.Ser1221Tyr)
c.3635C>A (p.Ser1212Tyr)
c.3581C>A (p.Ser1194Tyr)
c.2981C>A (p.Ser994Tyr)
c.3929C>A (p.Ser1310Tyr)
c.3926C>A (p.Ser1309Tyr)
c.3845C>A (p.Ser1282Tyr)
c.3776C>A (p.Ser1259Tyr)
c.3644C>A (p.Ser1215Tyr)
c.3512C>A (p.Ser1171Tyr)
20g.32436377C=CA2360293673ASXL1c.3665C= (p.Ser1222=)
c.3482C= (p.Ser1161=)
n.6018C=
c.1869+1796C= (n.1869+1796C=)
c.3650C= (p.Ser1217=)
c.3662C= (p.Ser1221=)
c.3635C= (p.Ser1212=)
c.3581C= (p.Ser1194=)
c.2981C= (p.Ser994=)
c.3929C= (p.Ser1310=)
c.3926C= (p.Ser1309=)
c.3845C= (p.Ser1282=)
c.3776C= (p.Ser1259=)
c.3644C= (p.Ser1215=)
c.3512C= (p.Ser1171=)
20g.32436377C>GCA408563537ASXL1c.3665C>G (p.Ser1222Cys)
c.3482C>G (p.Ser1161Cys)
n.6018C>G
c.1869+1796C>G (n.1869+1796C>G)
c.3650C>G (p.Ser1217Cys)
c.3662C>G (p.Ser1221Cys)
c.3635C>G (p.Ser1212Cys)
c.3581C>G (p.Ser1194Cys)
c.2981C>G (p.Ser994Cys)
c.3929C>G (p.Ser1310Cys)
c.3926C>G (p.Ser1309Cys)
c.3845C>G (p.Ser1282Cys)
c.3776C>G (p.Ser1259Cys)
c.3644C>G (p.Ser1215Cys)
c.3512C>G (p.Ser1171Cys)
20g.32436377C>TCA408563538ASXL1c.3665C>T (p.Ser1222Phe)
c.3482C>T (p.Ser1161Phe)
n.6018C>T
c.1869+1796C>T (n.1869+1796C>T)
c.3650C>T (p.Ser1217Phe)
c.3662C>T (p.Ser1221Phe)
c.3635C>T (p.Ser1212Phe)
c.3581C>T (p.Ser1194Phe)
c.2981C>T (p.Ser994Phe)
c.3929C>T (p.Ser1310Phe)
c.3926C>T (p.Ser1309Phe)
c.3845C>T (p.Ser1282Phe)
c.3776C>T (p.Ser1259Phe)
c.3644C>T (p.Ser1215Phe)
c.3512C>T (p.Ser1171Phe)
 dbSNP gnomAD v3 gnomAD v4
20g.32436378C>ACA510467410ASXL1c.3666C>A (p.Ser1222=)
c.3483C>A (p.Ser1161=)
n.6019C>A
c.1869+1797C>A (n.1869+1797C>A)
c.3651C>A (p.Ser1217=)
c.3663C>A (p.Ser1221=)
c.3636C>A (p.Ser1212=)
c.3582C>A (p.Ser1194=)
c.2982C>A (p.Ser994=)
c.3930C>A (p.Ser1310=)
c.3927C>A (p.Ser1309=)
c.3846C>A (p.Ser1282=)
c.3777C>A (p.Ser1259=)
c.3645C>A (p.Ser1215=)
c.3513C>A (p.Ser1171=)
20g.32436378C=CA2360293674ASXL1c.3666C= (p.Ser1222=)
c.3483C= (p.Ser1161=)
n.6019C=
c.1869+1797C= (n.1869+1797C=)
c.3651C= (p.Ser1217=)
c.3663C= (p.Ser1221=)
c.3636C= (p.Ser1212=)
c.3582C= (p.Ser1194=)
c.2982C= (p.Ser994=)
c.3930C= (p.Ser1310=)
c.3927C= (p.Ser1309=)
c.3846C= (p.Ser1282=)
c.3777C= (p.Ser1259=)
c.3645C= (p.Ser1215=)
c.3513C= (p.Ser1171=)
20g.32436378C>GCA510467411ASXL1c.3666C>G (p.Ser1222=)
c.3483C>G (p.Ser1161=)
n.6019C>G
c.1869+1797C>G (n.1869+1797C>G)
c.3651C>G (p.Ser1217=)
c.3663C>G (p.Ser1221=)
c.3636C>G (p.Ser1212=)
c.3582C>G (p.Ser1194=)
c.2982C>G (p.Ser994=)
c.3930C>G (p.Ser1310=)
c.3927C>G (p.Ser1309=)
c.3846C>G (p.Ser1282=)
c.3777C>G (p.Ser1259=)
c.3645C>G (p.Ser1215=)
c.3513C>G (p.Ser1171=)
20g.32436378C>TCA510467414ASXL1c.3666C>T (p.Ser1222=)
c.3483C>T (p.Ser1161=)
n.6019C>T
c.1869+1797C>T (n.1869+1797C>T)
c.3651C>T (p.Ser1217=)
c.3663C>T (p.Ser1221=)
c.3636C>T (p.Ser1212=)
c.3582C>T (p.Ser1194=)
c.2982C>T (p.Ser994=)
c.3930C>T (p.Ser1310=)
c.3927C>T (p.Ser1309=)
c.3846C>T (p.Ser1282=)
c.3777C>T (p.Ser1259=)
c.3645C>T (p.Ser1215=)
c.3513C>T (p.Ser1171=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436379T>ACA408563539ASXL1c.3667T>A (p.Ser1223Thr)
c.3484T>A (p.Ser1162Thr)
n.6020T>A
c.1869+1798T>A (n.1869+1798T>A)
c.3652T>A (p.Ser1218Thr)
c.3664T>A (p.Ser1222Thr)
c.3637T>A (p.Ser1213Thr)
c.3583T>A (p.Ser1195Thr)
c.2983T>A (p.Ser995Thr)
c.3931T>A (p.Ser1311Thr)
c.3928T>A (p.Ser1310Thr)
c.3847T>A (p.Ser1283Thr)
c.3778T>A (p.Ser1260Thr)
c.3646T>A (p.Ser1216Thr)
c.3514T>A (p.Ser1172Thr)
20g.32436379T>CCA408563540ASXL1c.3667T>C (p.Ser1223Pro)
c.3484T>C (p.Ser1162Pro)
n.6020T>C
c.1869+1798T>C (n.1869+1798T>C)
c.3652T>C (p.Ser1218Pro)
c.3664T>C (p.Ser1222Pro)
c.3637T>C (p.Ser1213Pro)
c.3583T>C (p.Ser1195Pro)
c.2983T>C (p.Ser995Pro)
c.3931T>C (p.Ser1311Pro)
c.3928T>C (p.Ser1310Pro)
c.3847T>C (p.Ser1283Pro)
c.3778T>C (p.Ser1260Pro)
c.3646T>C (p.Ser1216Pro)
c.3514T>C (p.Ser1172Pro)
20g.32436379T>GCA408563541ASXL1c.3667T>G (p.Ser1223Ala)
c.3484T>G (p.Ser1162Ala)
n.6020T>G
c.1869+1798T>G (n.1869+1798T>G)
c.3652T>G (p.Ser1218Ala)
c.3664T>G (p.Ser1222Ala)
c.3637T>G (p.Ser1213Ala)
c.3583T>G (p.Ser1195Ala)
c.2983T>G (p.Ser995Ala)
c.3931T>G (p.Ser1311Ala)
c.3928T>G (p.Ser1310Ala)
c.3847T>G (p.Ser1283Ala)
c.3778T>G (p.Ser1260Ala)
c.3646T>G (p.Ser1216Ala)
c.3514T>G (p.Ser1172Ala)
 gnomAD v4
20g.32436380C>ACA408563543ASXL1c.3668C>A (p.Ser1223Tyr)
c.3485C>A (p.Ser1162Tyr)
n.6021C>A
c.1869+1799C>A (n.1869+1799C>A)
c.3653C>A (p.Ser1218Tyr)
c.3665C>A (p.Ser1222Tyr)
c.3638C>A (p.Ser1213Tyr)
c.3584C>A (p.Ser1195Tyr)
c.2984C>A (p.Ser995Tyr)
c.3932C>A (p.Ser1311Tyr)
c.3929C>A (p.Ser1310Tyr)
c.3848C>A (p.Ser1283Tyr)
c.3779C>A (p.Ser1260Tyr)
c.3647C>A (p.Ser1216Tyr)
c.3515C>A (p.Ser1172Tyr)
20g.32436380C=CA2360293675ASXL1c.3668C= (p.Ser1223=)
c.3485C= (p.Ser1162=)
n.6021C=
c.1869+1799C= (n.1869+1799C=)
c.3653C= (p.Ser1218=)
c.3665C= (p.Ser1222=)
c.3638C= (p.Ser1213=)
c.3584C= (p.Ser1195=)
c.2984C= (p.Ser995=)
c.3932C= (p.Ser1311=)
c.3929C= (p.Ser1310=)
c.3848C= (p.Ser1283=)
c.3779C= (p.Ser1260=)
c.3647C= (p.Ser1216=)
c.3515C= (p.Ser1172=)
20g.32436380C>GCA408563544ASXL1c.3668C>G (p.Ser1223Cys)
c.3485C>G (p.Ser1162Cys)
n.6021C>G
c.1869+1799C>G (n.1869+1799C>G)
c.3653C>G (p.Ser1218Cys)
c.3665C>G (p.Ser1222Cys)
c.3638C>G (p.Ser1213Cys)
c.3584C>G (p.Ser1195Cys)
c.2984C>G (p.Ser995Cys)
c.3932C>G (p.Ser1311Cys)
c.3929C>G (p.Ser1310Cys)
c.3848C>G (p.Ser1283Cys)
c.3779C>G (p.Ser1260Cys)
c.3647C>G (p.Ser1216Cys)
c.3515C>G (p.Ser1172Cys)
20g.32436380C>TCA408563542ASXL1c.3668C>T (p.Ser1223Phe)
c.3485C>T (p.Ser1162Phe)
n.6021C>T
c.1869+1799C>T (n.1869+1799C>T)
c.3653C>T (p.Ser1218Phe)
c.3665C>T (p.Ser1222Phe)
c.3638C>T (p.Ser1213Phe)
c.3584C>T (p.Ser1195Phe)
c.2984C>T (p.Ser995Phe)
c.3932C>T (p.Ser1311Phe)
c.3929C>T (p.Ser1310Phe)
c.3848C>T (p.Ser1283Phe)
c.3779C>T (p.Ser1260Phe)
c.3647C>T (p.Ser1216Phe)
c.3515C>T (p.Ser1172Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436381T>ACA510467416ASXL1c.3669T>A (p.Ser1223=)
c.3486T>A (p.Ser1162=)
n.6022T>A
c.1869+1800T>A (n.1869+1800T>A)
c.3654T>A (p.Ser1218=)
c.3666T>A (p.Ser1222=)
c.3639T>A (p.Ser1213=)
c.3585T>A (p.Ser1195=)
c.2985T>A (p.Ser995=)
c.3933T>A (p.Ser1311=)
c.3930T>A (p.Ser1310=)
c.3849T>A (p.Ser1283=)
c.3780T>A (p.Ser1260=)
c.3648T>A (p.Ser1216=)
c.3516T>A (p.Ser1172=)
20g.32436381T>CCA510467417ASXL1c.3669T>C (p.Ser1223=)
c.3486T>C (p.Ser1162=)
n.6022T>C
c.1869+1800T>C (n.1869+1800T>C)
c.3654T>C (p.Ser1218=)
c.3666T>C (p.Ser1222=)
c.3639T>C (p.Ser1213=)
c.3585T>C (p.Ser1195=)
c.2985T>C (p.Ser995=)
c.3933T>C (p.Ser1311=)
c.3930T>C (p.Ser1310=)
c.3849T>C (p.Ser1283=)
c.3780T>C (p.Ser1260=)
c.3648T>C (p.Ser1216=)
c.3516T>C (p.Ser1172=)
20g.32436381T>GCA510467418ASXL1c.3669T>G (p.Ser1223=)
c.3486T>G (p.Ser1162=)
n.6022T>G
c.1869+1800T>G (n.1869+1800T>G)
c.3654T>G (p.Ser1218=)
c.3666T>G (p.Ser1222=)
c.3639T>G (p.Ser1213=)
c.3585T>G (p.Ser1195=)
c.2985T>G (p.Ser995=)
c.3933T>G (p.Ser1311=)
c.3930T>G (p.Ser1310=)
c.3849T>G (p.Ser1283=)
c.3780T>G (p.Ser1260=)
c.3648T>G (p.Ser1216=)
c.3516T>G (p.Ser1172=)
20g.32436382A>CCA510467420ASXL1c.3670A>C (p.Arg1224=)
c.3487A>C (p.Arg1163=)
n.6023A>C
c.1869+1801A>C (n.1869+1801A>C)
c.3655A>C (p.Arg1219=)
c.3667A>C (p.Arg1223=)
c.3640A>C (p.Arg1214=)
c.3586A>C (p.Arg1196=)
c.2986A>C (p.Arg996=)
c.3934A>C (p.Arg1312=)
c.3931A>C (p.Arg1311=)
c.3850A>C (p.Arg1284=)
c.3781A>C (p.Arg1261=)
c.3649A>C (p.Arg1217=)
c.3517A>C (p.Arg1173=)
20g.32436382A>GCA408563545ASXL1c.3670A>G (p.Arg1224Gly)
c.3487A>G (p.Arg1163Gly)
n.6023A>G
c.1869+1801A>G (n.1869+1801A>G)
c.3655A>G (p.Arg1219Gly)
c.3667A>G (p.Arg1223Gly)
c.3640A>G (p.Arg1214Gly)
c.3586A>G (p.Arg1196Gly)
c.2986A>G (p.Arg996Gly)
c.3934A>G (p.Arg1312Gly)
c.3931A>G (p.Arg1311Gly)
c.3850A>G (p.Arg1284Gly)
c.3781A>G (p.Arg1261Gly)
c.3649A>G (p.Arg1217Gly)
c.3517A>G (p.Arg1173Gly)
 gnomAD v4
20g.32436382A>TCA408563546ASXL1c.3670A>T (p.Arg1224Trp)
c.3487A>T (p.Arg1163Trp)
n.6023A>T
c.1869+1801A>T (n.1869+1801A>T)
c.3655A>T (p.Arg1219Trp)
c.3667A>T (p.Arg1223Trp)
c.3640A>T (p.Arg1214Trp)
c.3586A>T (p.Arg1196Trp)
c.2986A>T (p.Arg996Trp)
c.3934A>T (p.Arg1312Trp)
c.3931A>T (p.Arg1311Trp)
c.3850A>T (p.Arg1284Trp)
c.3781A>T (p.Arg1261Trp)
c.3649A>T (p.Arg1217Trp)
c.3517A>T (p.Arg1173Trp)
20g.32436383G>ACA408563547ASXL1c.3671G>A (p.Arg1224Lys)
c.3488G>A (p.Arg1163Lys)
n.6024G>A
c.1869+1802G>A (n.1869+1802G>A)
c.3656G>A (p.Arg1219Lys)
c.3668G>A (p.Arg1223Lys)
c.3641G>A (p.Arg1214Lys)
c.3587G>A (p.Arg1196Lys)
c.2987G>A (p.Arg996Lys)
c.3935G>A (p.Arg1312Lys)
c.3932G>A (p.Arg1311Lys)
c.3851G>A (p.Arg1284Lys)
c.3782G>A (p.Arg1261Lys)
c.3650G>A (p.Arg1217Lys)
c.3518G>A (p.Arg1173Lys)
20g.32436383G>CCA9808874ASXL1c.3671G>C (p.Arg1224Thr)
c.3488G>C (p.Arg1163Thr)
n.6024G>C
c.1869+1802G>C (n.1869+1802G>C)
c.3656G>C (p.Arg1219Thr)
c.3668G>C (p.Arg1223Thr)
c.3641G>C (p.Arg1214Thr)
c.3587G>C (p.Arg1196Thr)
c.2987G>C (p.Arg996Thr)
c.3935G>C (p.Arg1312Thr)
c.3932G>C (p.Arg1311Thr)
c.3851G>C (p.Arg1284Thr)
c.3782G>C (p.Arg1261Thr)
c.3650G>C (p.Arg1217Thr)
c.3518G>C (p.Arg1173Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32436383G=CA2360293676ASXL1c.3671G= (p.Arg1224=)
c.3488G= (p.Arg1163=)
n.6024G=
c.1869+1802G= (n.1869+1802G=)
c.3656G= (p.Arg1219=)
c.3668G= (p.Arg1223=)
c.3641G= (p.Arg1214=)
c.3587G= (p.Arg1196=)
c.2987G= (p.Arg996=)
c.3935G= (p.Arg1312=)
c.3932G= (p.Arg1311=)
c.3851G= (p.Arg1284=)
c.3782G= (p.Arg1261=)
c.3650G= (p.Arg1217=)
c.3518G= (p.Arg1173=)
20g.32436383G>TCA408563548ASXL1c.3671G>T (p.Arg1224Met)
c.3488G>T (p.Arg1163Met)
n.6024G>T
c.1869+1802G>T (n.1869+1802G>T)
c.3656G>T (p.Arg1219Met)
c.3668G>T (p.Arg1223Met)
c.3641G>T (p.Arg1214Met)
c.3587G>T (p.Arg1196Met)
c.2987G>T (p.Arg996Met)
c.3935G>T (p.Arg1312Met)
c.3932G>T (p.Arg1311Met)
c.3851G>T (p.Arg1284Met)
c.3782G>T (p.Arg1261Met)
c.3650G>T (p.Arg1217Met)
c.3518G>T (p.Arg1173Met)
20g.32436384G>ACA510467421ASXL1c.3672G>A (p.Arg1224=)
c.3489G>A (p.Arg1163=)
n.6025G>A
c.1869+1803G>A (n.1869+1803G>A)
c.3657G>A (p.Arg1219=)
c.3669G>A (p.Arg1223=)
c.3642G>A (p.Arg1214=)
c.3588G>A (p.Arg1196=)
c.2988G>A (p.Arg996=)
c.3936G>A (p.Arg1312=)
c.3933G>A (p.Arg1311=)
c.3852G>A (p.Arg1284=)
c.3783G>A (p.Arg1261=)
c.3651G>A (p.Arg1217=)
c.3519G>A (p.Arg1173=)
20g.32436384G>CCA408563549ASXL1c.3672G>C (p.Arg1224Ser)
c.3489G>C (p.Arg1163Ser)
n.6025G>C
c.1869+1803G>C (n.1869+1803G>C)
c.3657G>C (p.Arg1219Ser)
c.3669G>C (p.Arg1223Ser)
c.3642G>C (p.Arg1214Ser)
c.3588G>C (p.Arg1196Ser)
c.2988G>C (p.Arg996Ser)
c.3936G>C (p.Arg1312Ser)
c.3933G>C (p.Arg1311Ser)
c.3852G>C (p.Arg1284Ser)
c.3783G>C (p.Arg1261Ser)
c.3651G>C (p.Arg1217Ser)
c.3519G>C (p.Arg1173Ser)
 dbSNP
20g.32436384G>TCA408563550ASXL1c.3672G>T (p.Arg1224Ser)
c.3489G>T (p.Arg1163Ser)
n.6025G>T
c.1869+1803G>T (n.1869+1803G>T)
c.3657G>T (p.Arg1219Ser)
c.3669G>T (p.Arg1223Ser)
c.3642G>T (p.Arg1214Ser)
c.3588G>T (p.Arg1196Ser)
c.2988G>T (p.Arg996Ser)
c.3936G>T (p.Arg1312Ser)
c.3933G>T (p.Arg1311Ser)
c.3852G>T (p.Arg1284Ser)
c.3783G>T (p.Arg1261Ser)
c.3651G>T (p.Arg1217Ser)
c.3519G>T (p.Arg1173Ser)
 dbSNP
20g.32436385A>CCA408563551ASXL1c.3673A>C (p.Lys1225Gln)
c.3490A>C (p.Lys1164Gln)
n.6026A>C
c.1869+1804A>C (n.1869+1804A>C)
c.3658A>C (p.Lys1220Gln)
c.3670A>C (p.Lys1224Gln)
c.3643A>C (p.Lys1215Gln)
c.3589A>C (p.Lys1197Gln)
c.2989A>C (p.Lys997Gln)
c.3937A>C (p.Lys1313Gln)
c.3934A>C (p.Lys1312Gln)
c.3853A>C (p.Lys1285Gln)
c.3784A>C (p.Lys1262Gln)
c.3652A>C (p.Lys1218Gln)
c.3520A>C (p.Lys1174Gln)
20g.32436385A>GCA408563552ASXL1c.3673A>G (p.Lys1225Glu)
c.3490A>G (p.Lys1164Glu)
n.6026A>G
c.1869+1804A>G (n.1869+1804A>G)
c.3658A>G (p.Lys1220Glu)
c.3670A>G (p.Lys1224Glu)
c.3643A>G (p.Lys1215Glu)
c.3589A>G (p.Lys1197Glu)
c.2989A>G (p.Lys997Glu)
c.3937A>G (p.Lys1313Glu)
c.3934A>G (p.Lys1312Glu)
c.3853A>G (p.Lys1285Glu)
c.3784A>G (p.Lys1262Glu)
c.3652A>G (p.Lys1218Glu)
c.3520A>G (p.Lys1174Glu)
20g.32436385A>TCA408563553ASXL1c.3673A>T (p.Lys1225Ter)
c.3490A>T (p.Lys1164Ter)
n.6026A>T
c.1869+1804A>T (n.1869+1804A>T)
c.3658A>T (p.Lys1220Ter)
c.3670A>T (p.Lys1224Ter)
c.3643A>T (p.Lys1215Ter)
c.3589A>T (p.Lys1197Ter)
c.2989A>T (p.Lys997Ter)
c.3937A>T (p.Lys1313Ter)
c.3934A>T (p.Lys1312Ter)
c.3853A>T (p.Lys1285Ter)
c.3784A>T (p.Lys1262Ter)
c.3652A>T (p.Lys1218Ter)
c.3520A>T (p.Lys1174Ter)
20g.32436386A>CCA408563554ASXL1c.3674A>C (p.Lys1225Thr)
c.3491A>C (p.Lys1164Thr)
n.6027A>C
c.1869+1805A>C (n.1869+1805A>C)
c.3659A>C (p.Lys1220Thr)
c.3671A>C (p.Lys1224Thr)
c.3644A>C (p.Lys1215Thr)
c.3590A>C (p.Lys1197Thr)
c.2990A>C (p.Lys997Thr)
c.3938A>C (p.Lys1313Thr)
c.3935A>C (p.Lys1312Thr)
c.3854A>C (p.Lys1285Thr)
c.3785A>C (p.Lys1262Thr)
c.3653A>C (p.Lys1218Thr)
c.3521A>C (p.Lys1174Thr)
20g.32436386A>GCA408563555ASXL1c.3674A>G (p.Lys1225Arg)
c.3491A>G (p.Lys1164Arg)
n.6027A>G
c.1869+1805A>G (n.1869+1805A>G)
c.3659A>G (p.Lys1220Arg)
c.3671A>G (p.Lys1224Arg)
c.3644A>G (p.Lys1215Arg)
c.3590A>G (p.Lys1197Arg)
c.2990A>G (p.Lys997Arg)
c.3938A>G (p.Lys1313Arg)
c.3935A>G (p.Lys1312Arg)
c.3854A>G (p.Lys1285Arg)
c.3785A>G (p.Lys1262Arg)
c.3653A>G (p.Lys1218Arg)
c.3521A>G (p.Lys1174Arg)
 ClinVar dbSNP gnomAD v4
20g.32436386A>TCA408563556ASXL1c.3674A>T (p.Lys1225Ile)
c.3491A>T (p.Lys1164Ile)
n.6027A>T
c.1869+1805A>T (n.1869+1805A>T)
c.3659A>T (p.Lys1220Ile)
c.3671A>T (p.Lys1224Ile)
c.3644A>T (p.Lys1215Ile)
c.3590A>T (p.Lys1197Ile)
c.2990A>T (p.Lys997Ile)
c.3938A>T (p.Lys1313Ile)
c.3935A>T (p.Lys1312Ile)
c.3854A>T (p.Lys1285Ile)
c.3785A>T (p.Lys1262Ile)
c.3653A>T (p.Lys1218Ile)
c.3521A>T (p.Lys1174Ile)
20g.32436387A=CA2360293677ASXL1c.3675A= (p.Lys1225=)
c.3492A= (p.Lys1164=)
n.6028A=
c.1869+1806A= (n.1869+1806A=)
c.3660A= (p.Lys1220=)
c.3672A= (p.Lys1224=)
c.3645A= (p.Lys1215=)
c.3591A= (p.Lys1197=)
c.2991A= (p.Lys997=)
c.3939A= (p.Lys1313=)
c.3936A= (p.Lys1312=)
c.3855A= (p.Lys1285=)
c.3786A= (p.Lys1262=)
c.3654A= (p.Lys1218=)
c.3522A= (p.Lys1174=)
20g.32436387A>CCA408563557ASXL1c.3675A>C (p.Lys1225Asn)
c.3492A>C (p.Lys1164Asn)
n.6028A>C
c.1869+1806A>C (n.1869+1806A>C)
c.3660A>C (p.Lys1220Asn)
c.3672A>C (p.Lys1224Asn)
c.3645A>C (p.Lys1215Asn)
c.3591A>C (p.Lys1197Asn)
c.2991A>C (p.Lys997Asn)
c.3939A>C (p.Lys1313Asn)
c.3936A>C (p.Lys1312Asn)
c.3855A>C (p.Lys1285Asn)
c.3786A>C (p.Lys1262Asn)
c.3654A>C (p.Lys1218Asn)
c.3522A>C (p.Lys1174Asn)
 dbSNP gnomAD v4
20g.32436387A>GCA510467541ASXL1c.3675A>G (p.Lys1225=)
c.3492A>G (p.Lys1164=)
n.6028A>G
c.1869+1806A>G (n.1869+1806A>G)
c.3660A>G (p.Lys1220=)
c.3672A>G (p.Lys1224=)
c.3645A>G (p.Lys1215=)
c.3591A>G (p.Lys1197=)
c.2991A>G (p.Lys997=)
c.3939A>G (p.Lys1313=)
c.3936A>G (p.Lys1312=)
c.3855A>G (p.Lys1285=)
c.3786A>G (p.Lys1262=)
c.3654A>G (p.Lys1218=)
c.3522A>G (p.Lys1174=)
20g.32436387A>TCA9808875ASXL1c.3675A>T (p.Lys1225Asn)
c.3492A>T (p.Lys1164Asn)
n.6028A>T
c.1869+1806A>T (n.1869+1806A>T)
c.3660A>T (p.Lys1220Asn)
c.3672A>T (p.Lys1224Asn)
c.3645A>T (p.Lys1215Asn)
c.3591A>T (p.Lys1197Asn)
c.2991A>T (p.Lys997Asn)
c.3939A>T (p.Lys1313Asn)
c.3936A>T (p.Lys1312Asn)
c.3855A>T (p.Lys1285Asn)
c.3786A>T (p.Lys1262Asn)
c.3654A>T (p.Lys1218Asn)
c.3522A>T (p.Lys1174Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436388C>ACA408563558ASXL1c.3676C>A (p.Leu1226Met)
c.3493C>A (p.Leu1165Met)
n.6029C>A
c.1869+1807C>A (n.1869+1807C>A)
c.3661C>A (p.Leu1221Met)
c.3673C>A (p.Leu1225Met)
c.3646C>A (p.Leu1216Met)
c.3592C>A (p.Leu1198Met)
c.2992C>A (p.Leu998Met)
c.3940C>A (p.Leu1314Met)
c.3937C>A (p.Leu1313Met)
c.3856C>A (p.Leu1286Met)
c.3787C>A (p.Leu1263Met)
c.3655C>A (p.Leu1219Met)
c.3523C>A (p.Leu1175Met)
20g.32436388C=CA2360293678ASXL1c.3676C= (p.Leu1226=)
c.3493C= (p.Leu1165=)
n.6029C=
c.1869+1807C= (n.1869+1807C=)
c.3661C= (p.Leu1221=)
c.3673C= (p.Leu1225=)
c.3646C= (p.Leu1216=)
c.3592C= (p.Leu1198=)
c.2992C= (p.Leu998=)
c.3940C= (p.Leu1314=)
c.3937C= (p.Leu1313=)
c.3856C= (p.Leu1286=)
c.3787C= (p.Leu1263=)
c.3655C= (p.Leu1219=)
c.3523C= (p.Leu1175=)
20g.32436388C>GCA408563559ASXL1c.3676C>G (p.Leu1226Val)
c.3493C>G (p.Leu1165Val)
n.6029C>G
c.1869+1807C>G (n.1869+1807C>G)
c.3661C>G (p.Leu1221Val)
c.3673C>G (p.Leu1225Val)
c.3646C>G (p.Leu1216Val)
c.3592C>G (p.Leu1198Val)
c.2992C>G (p.Leu998Val)
c.3940C>G (p.Leu1314Val)
c.3937C>G (p.Leu1313Val)
c.3856C>G (p.Leu1286Val)
c.3787C>G (p.Leu1263Val)
c.3655C>G (p.Leu1219Val)
c.3523C>G (p.Leu1175Val)
20g.32436388C>TCA510467542ASXL1c.3676C>T (p.Leu1226=)
c.3493C>T (p.Leu1165=)
n.6029C>T
c.1869+1807C>T (n.1869+1807C>T)
c.3661C>T (p.Leu1221=)
c.3673C>T (p.Leu1225=)
c.3646C>T (p.Leu1216=)
c.3592C>T (p.Leu1198=)
c.2992C>T (p.Leu998=)
c.3940C>T (p.Leu1314=)
c.3937C>T (p.Leu1313=)
c.3856C>T (p.Leu1286=)
c.3787C>T (p.Leu1263=)
c.3655C>T (p.Leu1219=)
c.3523C>T (p.Leu1175=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436389T>ACA9808876ASXL1c.3677T>A (p.Leu1226Gln)
c.3494T>A (p.Leu1165Gln)
n.6030T>A
c.1869+1808T>A (n.1869+1808T>A)
c.3662T>A (p.Leu1221Gln)
c.3674T>A (p.Leu1225Gln)
c.3647T>A (p.Leu1216Gln)
c.3593T>A (p.Leu1198Gln)
c.2993T>A (p.Leu998Gln)
c.3941T>A (p.Leu1314Gln)
c.3938T>A (p.Leu1313Gln)
c.3857T>A (p.Leu1286Gln)
c.3788T>A (p.Leu1263Gln)
c.3656T>A (p.Leu1219Gln)
c.3524T>A (p.Leu1175Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436389T>CCA408563560ASXL1c.3677T>C (p.Leu1226Pro)
c.3494T>C (p.Leu1165Pro)
n.6030T>C
c.1869+1808T>C (n.1869+1808T>C)
c.3662T>C (p.Leu1221Pro)
c.3674T>C (p.Leu1225Pro)
c.3647T>C (p.Leu1216Pro)
c.3593T>C (p.Leu1198Pro)
c.2993T>C (p.Leu998Pro)
c.3941T>C (p.Leu1314Pro)
c.3938T>C (p.Leu1313Pro)
c.3857T>C (p.Leu1286Pro)
c.3788T>C (p.Leu1263Pro)
c.3656T>C (p.Leu1219Pro)
c.3524T>C (p.Leu1175Pro)
20g.32436389T>GCA9808877ASXL1c.3677T>G (p.Leu1226Arg)
c.3494T>G (p.Leu1165Arg)
n.6030T>G
c.1869+1808T>G (n.1869+1808T>G)
c.3662T>G (p.Leu1221Arg)
c.3674T>G (p.Leu1225Arg)
c.3647T>G (p.Leu1216Arg)
c.3593T>G (p.Leu1198Arg)
c.2993T>G (p.Leu998Arg)
c.3941T>G (p.Leu1314Arg)
c.3938T>G (p.Leu1313Arg)
c.3857T>G (p.Leu1286Arg)
c.3788T>G (p.Leu1263Arg)
c.3656T>G (p.Leu1219Arg)
c.3524T>G (p.Leu1175Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436389T=CA2360293679ASXL1c.3677T= (p.Leu1226=)
c.3494T= (p.Leu1165=)
n.6030T=
c.1869+1808T= (n.1869+1808T=)
c.3662T= (p.Leu1221=)
c.3674T= (p.Leu1225=)
c.3647T= (p.Leu1216=)
c.3593T= (p.Leu1198=)
c.2993T= (p.Leu998=)
c.3941T= (p.Leu1314=)
c.3938T= (p.Leu1313=)
c.3857T= (p.Leu1286=)
c.3788T= (p.Leu1263=)
c.3656T= (p.Leu1219=)
c.3524T= (p.Leu1175=)
20g.32436389_32436390delCA2580098169ASXL1c.3677_3678del (p.Leu1226ArgfsTer13)
c.3494_3495del (p.Leu1165ArgfsTer13)
n.6030_6031del
c.1869+1808_1869+1809del (n.1869+1808_1869+1809del)
c.3662_3663del (p.Leu1221ArgfsTer13)
c.3674_3675del (p.Leu1225ArgfsTer13)
c.3647_3648del (p.Leu1216ArgfsTer13)
c.3593_3594del (p.Leu1198ArgfsTer13)
c.2993_2994del (p.Leu998ArgfsTer13)
c.3941_3942del (p.Leu1314ArgfsTer13)
c.3938_3939del (p.Leu1313ArgfsTer13)
c.3857_3858del (p.Leu1286ArgfsTer13)
c.3788_3789del (p.Leu1263ArgfsTer13)
c.3656_3657del (p.Leu1219ArgfsTer13)
c.3524_3525del (p.Leu1175ArgfsTer13)
 ClinVar
20g.32436390G>ACA510467547ASXL1c.3678G>A (p.Leu1226=)
c.3495G>A (p.Leu1165=)
n.6031G>A
c.1869+1809G>A (n.1869+1809G>A)
c.3663G>A (p.Leu1221=)
c.3675G>A (p.Leu1225=)
c.3648G>A (p.Leu1216=)
c.3594G>A (p.Leu1198=)
c.2994G>A (p.Leu998=)
c.3942G>A (p.Leu1314=)
c.3939G>A (p.Leu1313=)
c.3858G>A (p.Leu1286=)
c.3789G>A (p.Leu1263=)
c.3657G>A (p.Leu1219=)
c.3525G>A (p.Leu1175=)
 gnomAD v4
20g.32436390G>CCA510467545ASXL1c.3678G>C (p.Leu1226=)
c.3495G>C (p.Leu1165=)
n.6031G>C
c.1869+1809G>C (n.1869+1809G>C)
c.3663G>C (p.Leu1221=)
c.3675G>C (p.Leu1225=)
c.3648G>C (p.Leu1216=)
c.3594G>C (p.Leu1198=)
c.2994G>C (p.Leu998=)
c.3942G>C (p.Leu1314=)
c.3939G>C (p.Leu1313=)
c.3858G>C (p.Leu1286=)
c.3789G>C (p.Leu1263=)
c.3657G>C (p.Leu1219=)
c.3525G>C (p.Leu1175=)
20g.32436390G>TCA510467546ASXL1c.3678G>T (p.Leu1226=)
c.3495G>T (p.Leu1165=)
n.6031G>T
c.1869+1809G>T (n.1869+1809G>T)
c.3663G>T (p.Leu1221=)
c.3675G>T (p.Leu1225=)
c.3648G>T (p.Leu1216=)
c.3594G>T (p.Leu1198=)
c.2994G>T (p.Leu998=)
c.3942G>T (p.Leu1314=)
c.3939G>T (p.Leu1313=)
c.3858G>T (p.Leu1286=)
c.3789G>T (p.Leu1263=)
c.3657G>T (p.Leu1219=)
c.3525G>T (p.Leu1175=)
20g.32436391G>ACA9808878ASXL1c.3679G>A (p.Glu1227Lys)
c.3496G>A (p.Glu1166Lys)
n.6032G>A
c.1869+1810G>A (n.1869+1810G>A)
c.3664G>A (p.Glu1222Lys)
c.3676G>A (p.Glu1226Lys)
c.3649G>A (p.Glu1217Lys)
c.3595G>A (p.Glu1199Lys)
c.2995G>A (p.Glu999Lys)
c.3943G>A (p.Glu1315Lys)
c.3940G>A (p.Glu1314Lys)
c.3859G>A (p.Glu1287Lys)
c.3790G>A (p.Glu1264Lys)
c.3658G>A (p.Glu1220Lys)
c.3526G>A (p.Glu1176Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436391G>CCA408563561ASXL1c.3679G>C (p.Glu1227Gln)
c.3496G>C (p.Glu1166Gln)
n.6032G>C
c.1869+1810G>C (n.1869+1810G>C)
c.3664G>C (p.Glu1222Gln)
c.3676G>C (p.Glu1226Gln)
c.3649G>C (p.Glu1217Gln)
c.3595G>C (p.Glu1199Gln)
c.2995G>C (p.Glu999Gln)
c.3943G>C (p.Glu1315Gln)
c.3940G>C (p.Glu1314Gln)
c.3859G>C (p.Glu1287Gln)
c.3790G>C (p.Glu1264Gln)
c.3658G>C (p.Glu1220Gln)
c.3526G>C (p.Glu1176Gln)
20g.32436391G=CA2360293680ASXL1c.3679G= (p.Glu1227=)
c.3496G= (p.Glu1166=)
n.6032G=
c.1869+1810G= (n.1869+1810G=)
c.3664G= (p.Glu1222=)
c.3676G= (p.Glu1226=)
c.3649G= (p.Glu1217=)
c.3595G= (p.Glu1199=)
c.2995G= (p.Glu999=)
c.3943G= (p.Glu1315=)
c.3940G= (p.Glu1314=)
c.3859G= (p.Glu1287=)
c.3790G= (p.Glu1264=)
c.3658G= (p.Glu1220=)
c.3526G= (p.Glu1176=)
20g.32436391G>TCA408563562ASXL1c.3679G>T (p.Glu1227Ter)
c.3496G>T (p.Glu1166Ter)
n.6032G>T
c.1869+1810G>T (n.1869+1810G>T)
c.3664G>T (p.Glu1222Ter)
c.3676G>T (p.Glu1226Ter)
c.3649G>T (p.Glu1217Ter)
c.3595G>T (p.Glu1199Ter)
c.2995G>T (p.Glu999Ter)
c.3943G>T (p.Glu1315Ter)
c.3940G>T (p.Glu1314Ter)
c.3859G>T (p.Glu1287Ter)
c.3790G>T (p.Glu1264Ter)
c.3658G>T (p.Glu1220Ter)
c.3526G>T (p.Glu1176Ter)
20g.32436392A>CCA408563563ASXL1c.3680A>C (p.Glu1227Ala)
c.3497A>C (p.Glu1166Ala)
n.6033A>C
c.1869+1811A>C (n.1869+1811A>C)
c.3665A>C (p.Glu1222Ala)
c.3677A>C (p.Glu1226Ala)
c.3650A>C (p.Glu1217Ala)
c.3596A>C (p.Glu1199Ala)
c.2996A>C (p.Glu999Ala)
c.3944A>C (p.Glu1315Ala)
c.3941A>C (p.Glu1314Ala)
c.3860A>C (p.Glu1287Ala)
c.3791A>C (p.Glu1264Ala)
c.3659A>C (p.Glu1220Ala)
c.3527A>C (p.Glu1176Ala)
20g.32436392A>GCA408563564ASXL1c.3680A>G (p.Glu1227Gly)
c.3497A>G (p.Glu1166Gly)
n.6033A>G
c.1869+1811A>G (n.1869+1811A>G)
c.3665A>G (p.Glu1222Gly)
c.3677A>G (p.Glu1226Gly)
c.3650A>G (p.Glu1217Gly)
c.3596A>G (p.Glu1199Gly)
c.2996A>G (p.Glu999Gly)
c.3944A>G (p.Glu1315Gly)
c.3941A>G (p.Glu1314Gly)
c.3860A>G (p.Glu1287Gly)
c.3791A>G (p.Glu1264Gly)
c.3659A>G (p.Glu1220Gly)
c.3527A>G (p.Glu1176Gly)
20g.32436392A>TCA408563565ASXL1c.3680A>T (p.Glu1227Val)
c.3497A>T (p.Glu1166Val)
n.6033A>T
c.1869+1811A>T (n.1869+1811A>T)
c.3665A>T (p.Glu1222Val)
c.3677A>T (p.Glu1226Val)
c.3650A>T (p.Glu1217Val)
c.3596A>T (p.Glu1199Val)
c.2996A>T (p.Glu999Val)
c.3944A>T (p.Glu1315Val)
c.3941A>T (p.Glu1314Val)
c.3860A>T (p.Glu1287Val)
c.3791A>T (p.Glu1264Val)
c.3659A>T (p.Glu1220Val)
c.3527A>T (p.Glu1176Val)
20g.32436393A=CA2360293681ASXL1c.3681A= (p.Glu1227=)
c.3498A= (p.Glu1166=)
n.6034A=
c.1869+1812A= (n.1869+1812A=)
c.3666A= (p.Glu1222=)
c.3678A= (p.Glu1226=)
c.3651A= (p.Glu1217=)
c.3597A= (p.Glu1199=)
c.2997A= (p.Glu999=)
c.3945A= (p.Glu1315=)
c.3942A= (p.Glu1314=)
c.3861A= (p.Glu1287=)
c.3792A= (p.Glu1264=)
c.3660A= (p.Glu1220=)
c.3528A= (p.Glu1176=)
20g.32436393A>CCA408563566ASXL1c.3681A>C (p.Glu1227Asp)
c.3498A>C (p.Glu1166Asp)
n.6034A>C
c.1869+1812A>C (n.1869+1812A>C)
c.3666A>C (p.Glu1222Asp)
c.3678A>C (p.Glu1226Asp)
c.3651A>C (p.Glu1217Asp)
c.3597A>C (p.Glu1199Asp)
c.2997A>C (p.Glu999Asp)
c.3945A>C (p.Glu1315Asp)
c.3942A>C (p.Glu1314Asp)
c.3861A>C (p.Glu1287Asp)
c.3792A>C (p.Glu1264Asp)
c.3660A>C (p.Glu1220Asp)
c.3528A>C (p.Glu1176Asp)
20g.32436393A>GCA510467549ASXL1c.3681A>G (p.Glu1227=)
c.3498A>G (p.Glu1166=)
n.6034A>G
c.1869+1812A>G (n.1869+1812A>G)
c.3666A>G (p.Glu1222=)
c.3678A>G (p.Glu1226=)
c.3651A>G (p.Glu1217=)
c.3597A>G (p.Glu1199=)
c.2997A>G (p.Glu999=)
c.3945A>G (p.Glu1315=)
c.3942A>G (p.Glu1314=)
c.3861A>G (p.Glu1287=)
c.3792A>G (p.Glu1264=)
c.3660A>G (p.Glu1220=)
c.3528A>G (p.Glu1176=)
 dbSNP gnomAD v3 gnomAD v4
20g.32436393A>TCA408563567ASXL1c.3681A>T (p.Glu1227Asp)
c.3498A>T (p.Glu1166Asp)
n.6034A>T
c.1869+1812A>T (n.1869+1812A>T)
c.3666A>T (p.Glu1222Asp)
c.3678A>T (p.Glu1226Asp)
c.3651A>T (p.Glu1217Asp)
c.3597A>T (p.Glu1199Asp)
c.2997A>T (p.Glu999Asp)
c.3945A>T (p.Glu1315Asp)
c.3942A>T (p.Glu1314Asp)
c.3861A>T (p.Glu1287Asp)
c.3792A>T (p.Glu1264Asp)
c.3660A>T (p.Glu1220Asp)
c.3528A>T (p.Glu1176Asp)
20g.32436394G>ACA408563568ASXL1c.3682G>A (p.Glu1228Lys)
c.3499G>A (p.Glu1167Lys)
n.6035G>A
c.1869+1813G>A (n.1869+1813G>A)
c.3667G>A (p.Glu1223Lys)
c.3679G>A (p.Glu1227Lys)
c.3652G>A (p.Glu1218Lys)
c.3598G>A (p.Glu1200Lys)
c.2998G>A (p.Glu1000Lys)
c.3946G>A (p.Glu1316Lys)
c.3943G>A (p.Glu1315Lys)
c.3862G>A (p.Glu1288Lys)
c.3793G>A (p.Glu1265Lys)
c.3661G>A (p.Glu1221Lys)
c.3529G>A (p.Glu1177Lys)
 dbSNP
20g.32436394G>CCA408563570ASXL1c.3682G>C (p.Glu1228Gln)
c.3499G>C (p.Glu1167Gln)
n.6035G>C
c.1869+1813G>C (n.1869+1813G>C)
c.3667G>C (p.Glu1223Gln)
c.3679G>C (p.Glu1227Gln)
c.3652G>C (p.Glu1218Gln)
c.3598G>C (p.Glu1200Gln)
c.2998G>C (p.Glu1000Gln)
c.3946G>C (p.Glu1316Gln)
c.3943G>C (p.Glu1315Gln)
c.3862G>C (p.Glu1288Gln)
c.3793G>C (p.Glu1265Gln)
c.3661G>C (p.Glu1221Gln)
c.3529G>C (p.Glu1177Gln)
20g.32436394G>TCA408563569ASXL1c.3682G>T (p.Glu1228Ter)
c.3499G>T (p.Glu1167Ter)
n.6035G>T
c.1869+1813G>T (n.1869+1813G>T)
c.3667G>T (p.Glu1223Ter)
c.3679G>T (p.Glu1227Ter)
c.3652G>T (p.Glu1218Ter)
c.3598G>T (p.Glu1200Ter)
c.2998G>T (p.Glu1000Ter)
c.3946G>T (p.Glu1316Ter)
c.3943G>T (p.Glu1315Ter)
c.3862G>T (p.Glu1288Ter)
c.3793G>T (p.Glu1265Ter)
c.3661G>T (p.Glu1221Ter)
c.3529G>T (p.Glu1177Ter)
 dbSNP COSMIC COSMIC
20g.32436395A>CCA408563571ASXL1c.3683A>C (p.Glu1228Ala)
c.3500A>C (p.Glu1167Ala)
n.6036A>C
c.1869+1814A>C (n.1869+1814A>C)
c.3668A>C (p.Glu1223Ala)
c.3680A>C (p.Glu1227Ala)
c.3653A>C (p.Glu1218Ala)
c.3599A>C (p.Glu1200Ala)
c.2999A>C (p.Glu1000Ala)
c.3947A>C (p.Glu1316Ala)
c.3944A>C (p.Glu1315Ala)
c.3863A>C (p.Glu1288Ala)
c.3794A>C (p.Glu1265Ala)
c.3662A>C (p.Glu1221Ala)
c.3530A>C (p.Glu1177Ala)
20g.32436395A>GCA408563572ASXL1c.3683A>G (p.Glu1228Gly)
c.3500A>G (p.Glu1167Gly)
n.6036A>G
c.1869+1814A>G (n.1869+1814A>G)
c.3668A>G (p.Glu1223Gly)
c.3680A>G (p.Glu1227Gly)
c.3653A>G (p.Glu1218Gly)
c.3599A>G (p.Glu1200Gly)
c.2999A>G (p.Glu1000Gly)
c.3947A>G (p.Glu1316Gly)
c.3944A>G (p.Glu1315Gly)
c.3863A>G (p.Glu1288Gly)
c.3794A>G (p.Glu1265Gly)
c.3662A>G (p.Glu1221Gly)
c.3530A>G (p.Glu1177Gly)
20g.32436395A>TCA408563573ASXL1c.3683A>T (p.Glu1228Val)
c.3500A>T (p.Glu1167Val)
n.6036A>T
c.1869+1814A>T (n.1869+1814A>T)
c.3668A>T (p.Glu1223Val)
c.3680A>T (p.Glu1227Val)
c.3653A>T (p.Glu1218Val)
c.3599A>T (p.Glu1200Val)
c.2999A>T (p.Glu1000Val)
c.3947A>T (p.Glu1316Val)
c.3944A>T (p.Glu1315Val)
c.3863A>T (p.Glu1288Val)
c.3794A>T (p.Glu1265Val)
c.3662A>T (p.Glu1221Val)
c.3530A>T (p.Glu1177Val)
20g.32436396A>CCA408563574ASXL1c.3684A>C (p.Glu1228Asp)
c.3501A>C (p.Glu1167Asp)
n.6037A>C
c.1869+1815A>C (n.1869+1815A>C)
c.3669A>C (p.Glu1223Asp)
c.3681A>C (p.Glu1227Asp)
c.3654A>C (p.Glu1218Asp)
c.3600A>C (p.Glu1200Asp)
c.3000A>C (p.Glu1000Asp)
c.3948A>C (p.Glu1316Asp)
c.3945A>C (p.Glu1315Asp)
c.3864A>C (p.Glu1288Asp)
c.3795A>C (p.Glu1265Asp)
c.3663A>C (p.Glu1221Asp)
c.3531A>C (p.Glu1177Asp)
20g.32436396A>GCA510467552ASXL1c.3684A>G (p.Glu1228=)
c.3501A>G (p.Glu1167=)
n.6037A>G
c.1869+1815A>G (n.1869+1815A>G)
c.3669A>G (p.Glu1223=)
c.3681A>G (p.Glu1227=)
c.3654A>G (p.Glu1218=)
c.3600A>G (p.Glu1200=)
c.3000A>G (p.Glu1000=)
c.3948A>G (p.Glu1316=)
c.3945A>G (p.Glu1315=)
c.3864A>G (p.Glu1288=)
c.3795A>G (p.Glu1265=)
c.3663A>G (p.Glu1221=)
c.3531A>G (p.Glu1177=)
20g.32436396A>TCA408563575ASXL1c.3684A>T (p.Glu1228Asp)
c.3501A>T (p.Glu1167Asp)
n.6037A>T
c.1869+1815A>T (n.1869+1815A>T)
c.3669A>T (p.Glu1223Asp)
c.3681A>T (p.Glu1227Asp)
c.3654A>T (p.Glu1218Asp)
c.3600A>T (p.Glu1200Asp)
c.3000A>T (p.Glu1000Asp)
c.3948A>T (p.Glu1316Asp)
c.3945A>T (p.Glu1315Asp)
c.3864A>T (p.Glu1288Asp)
c.3795A>T (p.Glu1265Asp)
c.3663A>T (p.Glu1221Asp)
c.3531A>T (p.Glu1177Asp)
20g.32436397A=CA2360293682ASXL1c.3685A= (p.Met1229=)
c.3502A= (p.Met1168=)
n.6038A=
c.1869+1816A= (n.1869+1816A=)
c.3670A= (p.Met1224=)
c.3682A= (p.Met1228=)
c.3655A= (p.Met1219=)
c.3601A= (p.Met1201=)
c.3001A= (p.Met1001=)
c.3949A= (p.Met1317=)
c.3946A= (p.Met1316=)
c.3865A= (p.Met1289=)
c.3796A= (p.Met1266=)
c.3664A= (p.Met1222=)
c.3532A= (p.Met1178=)
20g.32436397A>CCA408563576ASXL1c.3685A>C (p.Met1229Leu)
c.3502A>C (p.Met1168Leu)
n.6038A>C
c.1869+1816A>C (n.1869+1816A>C)
c.3670A>C (p.Met1224Leu)
c.3682A>C (p.Met1228Leu)
c.3655A>C (p.Met1219Leu)
c.3601A>C (p.Met1201Leu)
c.3001A>C (p.Met1001Leu)
c.3949A>C (p.Met1317Leu)
c.3946A>C (p.Met1316Leu)
c.3865A>C (p.Met1289Leu)
c.3796A>C (p.Met1266Leu)
c.3664A>C (p.Met1222Leu)
c.3532A>C (p.Met1178Leu)
20g.32436397A>GCA408563577ASXL1c.3685A>G (p.Met1229Val)
c.3502A>G (p.Met1168Val)
n.6038A>G
c.1869+1816A>G (n.1869+1816A>G)
c.3670A>G (p.Met1224Val)
c.3682A>G (p.Met1228Val)
c.3655A>G (p.Met1219Val)
c.3601A>G (p.Met1201Val)
c.3001A>G (p.Met1001Val)
c.3949A>G (p.Met1317Val)
c.3946A>G (p.Met1316Val)
c.3865A>G (p.Met1289Val)
c.3796A>G (p.Met1266Val)
c.3664A>G (p.Met1222Val)
c.3532A>G (p.Met1178Val)
 dbSNP gnomAD v4
20g.32436397A>TCA408563578ASXL1c.3685A>T (p.Met1229Leu)
c.3502A>T (p.Met1168Leu)
n.6038A>T
c.1869+1816A>T (n.1869+1816A>T)
c.3670A>T (p.Met1224Leu)
c.3682A>T (p.Met1228Leu)
c.3655A>T (p.Met1219Leu)
c.3601A>T (p.Met1201Leu)
c.3001A>T (p.Met1001Leu)
c.3949A>T (p.Met1317Leu)
c.3946A>T (p.Met1316Leu)
c.3865A>T (p.Met1289Leu)
c.3796A>T (p.Met1266Leu)
c.3664A>T (p.Met1222Leu)
c.3532A>T (p.Met1178Leu)
20g.32436398T>ACA408563579ASXL1c.3686T>A (p.Met1229Lys)
c.3503T>A (p.Met1168Lys)
n.6039T>A
c.1869+1817T>A (n.1869+1817T>A)
c.3671T>A (p.Met1224Lys)
c.3683T>A (p.Met1228Lys)
c.3656T>A (p.Met1219Lys)
c.3602T>A (p.Met1201Lys)
c.3002T>A (p.Met1001Lys)
c.3950T>A (p.Met1317Lys)
c.3947T>A (p.Met1316Lys)
c.3866T>A (p.Met1289Lys)
c.3797T>A (p.Met1266Lys)
c.3665T>A (p.Met1222Lys)
c.3533T>A (p.Met1178Lys)
20g.32436398T>CCA408563580ASXL1c.3686T>C (p.Met1229Thr)
c.3503T>C (p.Met1168Thr)
n.6039T>C
c.1869+1817T>C (n.1869+1817T>C)
c.3671T>C (p.Met1224Thr)
c.3683T>C (p.Met1228Thr)
c.3656T>C (p.Met1219Thr)
c.3602T>C (p.Met1201Thr)
c.3002T>C (p.Met1001Thr)
c.3950T>C (p.Met1317Thr)
c.3947T>C (p.Met1316Thr)
c.3866T>C (p.Met1289Thr)
c.3797T>C (p.Met1266Thr)
c.3665T>C (p.Met1222Thr)
c.3533T>C (p.Met1178Thr)
 gnomAD v4
20g.32436398T>GCA408563581ASXL1c.3686T>G (p.Met1229Arg)
c.3503T>G (p.Met1168Arg)
n.6039T>G
c.1869+1817T>G (n.1869+1817T>G)
c.3671T>G (p.Met1224Arg)
c.3683T>G (p.Met1228Arg)
c.3656T>G (p.Met1219Arg)
c.3602T>G (p.Met1201Arg)
c.3002T>G (p.Met1001Arg)
c.3950T>G (p.Met1317Arg)
c.3947T>G (p.Met1316Arg)
c.3866T>G (p.Met1289Arg)
c.3797T>G (p.Met1266Arg)
c.3665T>G (p.Met1222Arg)
c.3533T>G (p.Met1178Arg)
20g.32436399G>ACA408563584ASXL1c.3687G>A (p.Met1229Ile)
c.3504G>A (p.Met1168Ile)
n.6040G>A
c.1869+1818G>A (n.1869+1818G>A)
c.3672G>A (p.Met1224Ile)
c.3684G>A (p.Met1228Ile)
c.3657G>A (p.Met1219Ile)
c.3603G>A (p.Met1201Ile)
c.3003G>A (p.Met1001Ile)
c.3951G>A (p.Met1317Ile)
c.3948G>A (p.Met1316Ile)
c.3867G>A (p.Met1289Ile)
c.3798G>A (p.Met1266Ile)
c.3666G>A (p.Met1222Ile)
c.3534G>A (p.Met1178Ile)
 dbSNP
20g.32436399G>CCA408563583ASXL1c.3687G>C (p.Met1229Ile)
c.3504G>C (p.Met1168Ile)
n.6040G>C
c.1869+1818G>C (n.1869+1818G>C)
c.3672G>C (p.Met1224Ile)
c.3684G>C (p.Met1228Ile)
c.3657G>C (p.Met1219Ile)
c.3603G>C (p.Met1201Ile)
c.3003G>C (p.Met1001Ile)
c.3951G>C (p.Met1317Ile)
c.3948G>C (p.Met1316Ile)
c.3867G>C (p.Met1289Ile)
c.3798G>C (p.Met1266Ile)
c.3666G>C (p.Met1222Ile)
c.3534G>C (p.Met1178Ile)
20g.32436399G>TCA408563582ASXL1c.3687G>T (p.Met1229Ile)
c.3504G>T (p.Met1168Ile)
n.6040G>T
c.1869+1818G>T (n.1869+1818G>T)
c.3672G>T (p.Met1224Ile)
c.3684G>T (p.Met1228Ile)
c.3657G>T (p.Met1219Ile)
c.3603G>T (p.Met1201Ile)
c.3003G>T (p.Met1001Ile)
c.3951G>T (p.Met1317Ile)
c.3948G>T (p.Met1316Ile)
c.3867G>T (p.Met1289Ile)
c.3798G>T (p.Met1266Ile)
c.3666G>T (p.Met1222Ile)
c.3534G>T (p.Met1178Ile)
20g.32436400G>ACA313926355ASXL1c.3688G>A (p.Asp1230Asn)
c.3505G>A (p.Asp1169Asn)
n.6041G>A
c.1869+1819G>A (n.1869+1819G>A)
c.3673G>A (p.Asp1225Asn)
c.3685G>A (p.Asp1229Asn)
c.3658G>A (p.Asp1220Asn)
c.3604G>A (p.Asp1202Asn)
c.3004G>A (p.Asp1002Asn)
c.3952G>A (p.Asp1318Asn)
c.3949G>A (p.Asp1317Asn)
c.3868G>A (p.Asp1290Asn)
c.3799G>A (p.Asp1267Asn)
c.3667G>A (p.Asp1223Asn)
c.3535G>A (p.Asp1179Asn)
 dbSNP
20g.32436400G>CCA9808880ASXL1c.3688G>C (p.Asp1230His)
c.3505G>C (p.Asp1169His)
n.6041G>C
c.1869+1819G>C (n.1869+1819G>C)
c.3673G>C (p.Asp1225His)
c.3685G>C (p.Asp1229His)
c.3658G>C (p.Asp1220His)
c.3604G>C (p.Asp1202His)
c.3004G>C (p.Asp1002His)
c.3952G>C (p.Asp1318His)
c.3949G>C (p.Asp1317His)
c.3868G>C (p.Asp1290His)
c.3799G>C (p.Asp1267His)
c.3667G>C (p.Asp1223His)
c.3535G>C (p.Asp1179His)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436400G=CA2360293683ASXL1c.3688G= (p.Asp1230=)
c.3505G= (p.Asp1169=)
n.6041G=
c.1869+1819G= (n.1869+1819G=)
c.3673G= (p.Asp1225=)
c.3685G= (p.Asp1229=)
c.3658G= (p.Asp1220=)
c.3604G= (p.Asp1202=)
c.3004G= (p.Asp1002=)
c.3952G= (p.Asp1318=)
c.3949G= (p.Asp1317=)
c.3868G= (p.Asp1290=)
c.3799G= (p.Asp1267=)
c.3667G= (p.Asp1223=)
c.3535G= (p.Asp1179=)
20g.32436400G>TCA9808879ASXL1c.3688G>T (p.Asp1230Tyr)
c.3505G>T (p.Asp1169Tyr)
n.6041G>T
c.1869+1819G>T (n.1869+1819G>T)
c.3673G>T (p.Asp1225Tyr)
c.3685G>T (p.Asp1229Tyr)
c.3658G>T (p.Asp1220Tyr)
c.3604G>T (p.Asp1202Tyr)
c.3004G>T (p.Asp1002Tyr)
c.3952G>T (p.Asp1318Tyr)
c.3949G>T (p.Asp1317Tyr)
c.3868G>T (p.Asp1290Tyr)
c.3799G>T (p.Asp1267Tyr)
c.3667G>T (p.Asp1223Tyr)
c.3535G>T (p.Asp1179Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436401A>CCA408563585ASXL1c.3689A>C (p.Asp1230Ala)
c.3506A>C (p.Asp1169Ala)
n.6042A>C
c.1869+1820A>C (n.1869+1820A>C)
c.3674A>C (p.Asp1225Ala)
c.3686A>C (p.Asp1229Ala)
c.3659A>C (p.Asp1220Ala)
c.3605A>C (p.Asp1202Ala)
c.3005A>C (p.Asp1002Ala)
c.3953A>C (p.Asp1318Ala)
c.3950A>C (p.Asp1317Ala)
c.3869A>C (p.Asp1290Ala)
c.3800A>C (p.Asp1267Ala)
c.3668A>C (p.Asp1223Ala)
c.3536A>C (p.Asp1179Ala)
20g.32436401A>GCA408563586ASXL1c.3689A>G (p.Asp1230Gly)
c.3506A>G (p.Asp1169Gly)
n.6042A>G
c.1869+1820A>G (n.1869+1820A>G)
c.3674A>G (p.Asp1225Gly)
c.3686A>G (p.Asp1229Gly)
c.3659A>G (p.Asp1220Gly)
c.3605A>G (p.Asp1202Gly)
c.3005A>G (p.Asp1002Gly)
c.3953A>G (p.Asp1318Gly)
c.3950A>G (p.Asp1317Gly)
c.3869A>G (p.Asp1290Gly)
c.3800A>G (p.Asp1267Gly)
c.3668A>G (p.Asp1223Gly)
c.3536A>G (p.Asp1179Gly)
20g.32436401A>TCA408563587ASXL1c.3689A>T (p.Asp1230Val)
c.3506A>T (p.Asp1169Val)
n.6042A>T
c.1869+1820A>T (n.1869+1820A>T)
c.3674A>T (p.Asp1225Val)
c.3686A>T (p.Asp1229Val)
c.3659A>T (p.Asp1220Val)
c.3605A>T (p.Asp1202Val)
c.3005A>T (p.Asp1002Val)
c.3953A>T (p.Asp1318Val)
c.3950A>T (p.Asp1317Val)
c.3869A>T (p.Asp1290Val)
c.3800A>T (p.Asp1267Val)
c.3668A>T (p.Asp1223Val)
c.3536A>T (p.Asp1179Val)
20g.32436402T>ACA408563588ASXL1c.3690T>A (p.Asp1230Glu)
c.3507T>A (p.Asp1169Glu)
n.6043T>A
c.1869+1821T>A (n.1869+1821T>A)
c.3675T>A (p.Asp1225Glu)
c.3687T>A (p.Asp1229Glu)
c.3660T>A (p.Asp1220Glu)
c.3606T>A (p.Asp1202Glu)
c.3006T>A (p.Asp1002Glu)
c.3954T>A (p.Asp1318Glu)
c.3951T>A (p.Asp1317Glu)
c.3870T>A (p.Asp1290Glu)
c.3801T>A (p.Asp1267Glu)
c.3669T>A (p.Asp1223Glu)
c.3537T>A (p.Asp1179Glu)
20g.32436402T>CCA510467558ASXL1c.3690T>C (p.Asp1230=)
c.3507T>C (p.Asp1169=)
n.6043T>C
c.1869+1821T>C (n.1869+1821T>C)
c.3675T>C (p.Asp1225=)
c.3687T>C (p.Asp1229=)
c.3660T>C (p.Asp1220=)
c.3606T>C (p.Asp1202=)
c.3006T>C (p.Asp1002=)
c.3954T>C (p.Asp1318=)
c.3951T>C (p.Asp1317=)
c.3870T>C (p.Asp1290=)
c.3801T>C (p.Asp1267=)
c.3669T>C (p.Asp1223=)
c.3537T>C (p.Asp1179=)
20g.32436402T>GCA408563589ASXL1c.3690T>G (p.Asp1230Glu)
c.3507T>G (p.Asp1169Glu)
n.6043T>G
c.1869+1821T>G (n.1869+1821T>G)
c.3675T>G (p.Asp1225Glu)
c.3687T>G (p.Asp1229Glu)
c.3660T>G (p.Asp1220Glu)
c.3606T>G (p.Asp1202Glu)
c.3006T>G (p.Asp1002Glu)
c.3954T>G (p.Asp1318Glu)
c.3951T>G (p.Asp1317Glu)
c.3870T>G (p.Asp1290Glu)
c.3801T>G (p.Asp1267Glu)
c.3669T>G (p.Asp1223Glu)
c.3537T>G (p.Asp1179Glu)
20g.32436403T>ACA408563590ASXL1c.3691T>A (p.Ser1231Thr)
c.3508T>A (p.Ser1170Thr)
n.6044T>A
c.1869+1822T>A (n.1869+1822T>A)
c.3676T>A (p.Ser1226Thr)
c.3688T>A (p.Ser1230Thr)
c.3661T>A (p.Ser1221Thr)
c.3607T>A (p.Ser1203Thr)
c.3007T>A (p.Ser1003Thr)
c.3955T>A (p.Ser1319Thr)
c.3952T>A (p.Ser1318Thr)
c.3871T>A (p.Ser1291Thr)
c.3802T>A (p.Ser1268Thr)
c.3670T>A (p.Ser1224Thr)
c.3538T>A (p.Ser1180Thr)
20g.32436403T>CCA408563591ASXL1c.3691T>C (p.Ser1231Pro)
c.3508T>C (p.Ser1170Pro)
n.6044T>C
c.1869+1822T>C (n.1869+1822T>C)
c.3676T>C (p.Ser1226Pro)
c.3688T>C (p.Ser1230Pro)
c.3661T>C (p.Ser1221Pro)
c.3607T>C (p.Ser1203Pro)
c.3007T>C (p.Ser1003Pro)
c.3955T>C (p.Ser1319Pro)
c.3952T>C (p.Ser1318Pro)
c.3871T>C (p.Ser1291Pro)
c.3802T>C (p.Ser1268Pro)
c.3670T>C (p.Ser1224Pro)
c.3538T>C (p.Ser1180Pro)
20g.32436403T>GCA408563592ASXL1c.3691T>G (p.Ser1231Ala)
c.3508T>G (p.Ser1170Ala)
n.6044T>G
c.1869+1822T>G (n.1869+1822T>G)
c.3676T>G (p.Ser1226Ala)
c.3688T>G (p.Ser1230Ala)
c.3661T>G (p.Ser1221Ala)
c.3607T>G (p.Ser1203Ala)
c.3007T>G (p.Ser1003Ala)
c.3955T>G (p.Ser1319Ala)
c.3952T>G (p.Ser1318Ala)
c.3871T>G (p.Ser1291Ala)
c.3802T>G (p.Ser1268Ala)
c.3670T>G (p.Ser1224Ala)
c.3538T>G (p.Ser1180Ala)
20g.32436404C>ACA408563594ASXL1c.3692C>A (p.Ser1231Tyr)
c.3509C>A (p.Ser1170Tyr)
n.6045C>A
c.1869+1823C>A (n.1869+1823C>A)
c.3677C>A (p.Ser1226Tyr)
c.3689C>A (p.Ser1230Tyr)
c.3662C>A (p.Ser1221Tyr)
c.3608C>A (p.Ser1203Tyr)
c.3008C>A (p.Ser1003Tyr)
c.3956C>A (p.Ser1319Tyr)
c.3953C>A (p.Ser1318Tyr)
c.3872C>A (p.Ser1291Tyr)
c.3803C>A (p.Ser1268Tyr)
c.3671C>A (p.Ser1224Tyr)
c.3539C>A (p.Ser1180Tyr)
 dbSNP
20g.32436404C=CA2360293684ASXL1c.3692C= (p.Ser1231=)
c.3509C= (p.Ser1170=)
n.6045C=
c.1869+1823C= (n.1869+1823C=)
c.3677C= (p.Ser1226=)
c.3689C= (p.Ser1230=)
c.3662C= (p.Ser1221=)
c.3608C= (p.Ser1203=)
c.3008C= (p.Ser1003=)
c.3956C= (p.Ser1319=)
c.3953C= (p.Ser1318=)
c.3872C= (p.Ser1291=)
c.3803C= (p.Ser1268=)
c.3671C= (p.Ser1224=)
c.3539C= (p.Ser1180=)
20g.32436404C>GCA408563593ASXL1c.3692C>G (p.Ser1231Cys)
c.3509C>G (p.Ser1170Cys)
n.6045C>G
c.1869+1823C>G (n.1869+1823C>G)
c.3677C>G (p.Ser1226Cys)
c.3689C>G (p.Ser1230Cys)
c.3662C>G (p.Ser1221Cys)
c.3608C>G (p.Ser1203Cys)
c.3008C>G (p.Ser1003Cys)
c.3956C>G (p.Ser1319Cys)
c.3953C>G (p.Ser1318Cys)
c.3872C>G (p.Ser1291Cys)
c.3803C>G (p.Ser1268Cys)
c.3671C>G (p.Ser1224Cys)
c.3539C>G (p.Ser1180Cys)
20g.32436404C>TCA157011ASXL1c.3692C>T (p.Ser1231Phe)
c.3509C>T (p.Ser1170Phe)
n.6045C>T
c.1869+1823C>T (n.1869+1823C>T)
c.3677C>T (p.Ser1226Phe)
c.3689C>T (p.Ser1230Phe)
c.3662C>T (p.Ser1221Phe)
c.3608C>T (p.Ser1203Phe)
c.3008C>T (p.Ser1003Phe)
c.3956C>T (p.Ser1319Phe)
c.3953C>T (p.Ser1318Phe)
c.3872C>T (p.Ser1291Phe)
c.3803C>T (p.Ser1268Phe)
c.3671C>T (p.Ser1224Phe)
c.3539C>T (p.Ser1180Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436405C>ACA510467562ASXL1c.3693C>A (p.Ser1231=)
c.3510C>A (p.Ser1170=)
n.6046C>A
c.1869+1824C>A (n.1869+1824C>A)
c.3678C>A (p.Ser1226=)
c.3690C>A (p.Ser1230=)
c.3663C>A (p.Ser1221=)
c.3609C>A (p.Ser1203=)
c.3009C>A (p.Ser1003=)
c.3957C>A (p.Ser1319=)
c.3954C>A (p.Ser1318=)
c.3873C>A (p.Ser1291=)
c.3804C>A (p.Ser1268=)
c.3672C>A (p.Ser1224=)
c.3540C>A (p.Ser1180=)
20g.32436405C>GCA510467563ASXL1c.3693C>G (p.Ser1231=)
c.3510C>G (p.Ser1170=)
n.6046C>G
c.1869+1824C>G (n.1869+1824C>G)
c.3678C>G (p.Ser1226=)
c.3690C>G (p.Ser1230=)
c.3663C>G (p.Ser1221=)
c.3609C>G (p.Ser1203=)
c.3009C>G (p.Ser1003=)
c.3957C>G (p.Ser1319=)
c.3954C>G (p.Ser1318=)
c.3873C>G (p.Ser1291=)
c.3804C>G (p.Ser1268=)
c.3672C>G (p.Ser1224=)
c.3540C>G (p.Ser1180=)
20g.32436405C>TCA510467564ASXL1c.3693C>T (p.Ser1231=)
c.3510C>T (p.Ser1170=)
n.6046C>T
c.1869+1824C>T (n.1869+1824C>T)
c.3678C>T (p.Ser1226=)
c.3690C>T (p.Ser1230=)
c.3663C>T (p.Ser1221=)
c.3609C>T (p.Ser1203=)
c.3009C>T (p.Ser1003=)
c.3957C>T (p.Ser1319=)
c.3954C>T (p.Ser1318=)
c.3873C>T (p.Ser1291=)
c.3804C>T (p.Ser1268=)
c.3672C>T (p.Ser1224=)
c.3540C>T (p.Ser1180=)
20g.32436406A=CA2360293685ASXL1c.3694A= (p.Lys1232=)
c.3511A= (p.Lys1171=)
n.6047A=
c.1869+1825A= (n.1869+1825A=)
c.3679A= (p.Lys1227=)
c.3691A= (p.Lys1231=)
c.3664A= (p.Lys1222=)
c.3610A= (p.Lys1204=)
c.3010A= (p.Lys1004=)
c.3958A= (p.Lys1320=)
c.3955A= (p.Lys1319=)
c.3874A= (p.Lys1292=)
c.3805A= (p.Lys1269=)
c.3673A= (p.Lys1225=)
c.3541A= (p.Lys1181=)
20g.32436406A>CCA408563595ASXL1c.3694A>C (p.Lys1232Gln)
c.3511A>C (p.Lys1171Gln)
n.6047A>C
c.1869+1825A>C (n.1869+1825A>C)
c.3679A>C (p.Lys1227Gln)
c.3691A>C (p.Lys1231Gln)
c.3664A>C (p.Lys1222Gln)
c.3610A>C (p.Lys1204Gln)
c.3010A>C (p.Lys1004Gln)
c.3958A>C (p.Lys1320Gln)
c.3955A>C (p.Lys1319Gln)
c.3874A>C (p.Lys1292Gln)
c.3805A>C (p.Lys1269Gln)
c.3673A>C (p.Lys1225Gln)
c.3541A>C (p.Lys1181Gln)
 dbSNP
20g.32436406A>GCA408563596ASXL1c.3694A>G (p.Lys1232Glu)
c.3511A>G (p.Lys1171Glu)
n.6047A>G
c.1869+1825A>G (n.1869+1825A>G)
c.3679A>G (p.Lys1227Glu)
c.3691A>G (p.Lys1231Glu)
c.3664A>G (p.Lys1222Glu)
c.3610A>G (p.Lys1204Glu)
c.3010A>G (p.Lys1004Glu)
c.3958A>G (p.Lys1320Glu)
c.3955A>G (p.Lys1319Glu)
c.3874A>G (p.Lys1292Glu)
c.3805A>G (p.Lys1269Glu)
c.3673A>G (p.Lys1225Glu)
c.3541A>G (p.Lys1181Glu)
20g.32436406A>TCA408563597ASXL1c.3694A>T (p.Lys1232Ter)
c.3511A>T (p.Lys1171Ter)
n.6047A>T
c.1869+1825A>T (n.1869+1825A>T)
c.3679A>T (p.Lys1227Ter)
c.3691A>T (p.Lys1231Ter)
c.3664A>T (p.Lys1222Ter)
c.3610A>T (p.Lys1204Ter)
c.3010A>T (p.Lys1004Ter)
c.3958A>T (p.Lys1320Ter)
c.3955A>T (p.Lys1319Ter)
c.3874A>T (p.Lys1292Ter)
c.3805A>T (p.Lys1269Ter)
c.3673A>T (p.Lys1225Ter)
c.3541A>T (p.Lys1181Ter)
20g.32436407A>CCA408563598ASXL1c.3695A>C (p.Lys1232Thr)
c.3512A>C (p.Lys1171Thr)
n.6048A>C
c.1869+1826A>C (n.1869+1826A>C)
c.3680A>C (p.Lys1227Thr)
c.3692A>C (p.Lys1231Thr)
c.3665A>C (p.Lys1222Thr)
c.3611A>C (p.Lys1204Thr)
c.3011A>C (p.Lys1004Thr)
c.3959A>C (p.Lys1320Thr)
c.3956A>C (p.Lys1319Thr)
c.3875A>C (p.Lys1292Thr)
c.3806A>C (p.Lys1269Thr)
c.3674A>C (p.Lys1225Thr)
c.3542A>C (p.Lys1181Thr)
20g.32436407A>GCA408563599ASXL1c.3695A>G (p.Lys1232Arg)
c.3512A>G (p.Lys1171Arg)
n.6048A>G
c.1869+1826A>G (n.1869+1826A>G)
c.3680A>G (p.Lys1227Arg)
c.3692A>G (p.Lys1231Arg)
c.3665A>G (p.Lys1222Arg)
c.3611A>G (p.Lys1204Arg)
c.3011A>G (p.Lys1004Arg)
c.3959A>G (p.Lys1320Arg)
c.3956A>G (p.Lys1319Arg)
c.3875A>G (p.Lys1292Arg)
c.3806A>G (p.Lys1269Arg)
c.3674A>G (p.Lys1225Arg)
c.3542A>G (p.Lys1181Arg)
20g.32436407A>TCA408563600ASXL1c.3695A>T (p.Lys1232Ile)
c.3512A>T (p.Lys1171Ile)
n.6048A>T
c.1869+1826A>T (n.1869+1826A>T)
c.3680A>T (p.Lys1227Ile)
c.3692A>T (p.Lys1231Ile)
c.3665A>T (p.Lys1222Ile)
c.3611A>T (p.Lys1204Ile)
c.3011A>T (p.Lys1004Ile)
c.3959A>T (p.Lys1320Ile)
c.3956A>T (p.Lys1319Ile)
c.3875A>T (p.Lys1292Ile)
c.3806A>T (p.Lys1269Ile)
c.3674A>T (p.Lys1225Ile)
c.3542A>T (p.Lys1181Ile)
20g.32436408A>CCA408563602ASXL1c.3696A>C (p.Lys1232Asn)
c.3513A>C (p.Lys1171Asn)
n.6049A>C
c.1869+1827A>C (n.1869+1827A>C)
c.3681A>C (p.Lys1227Asn)
c.3693A>C (p.Lys1231Asn)
c.3666A>C (p.Lys1222Asn)
c.3612A>C (p.Lys1204Asn)
c.3012A>C (p.Lys1004Asn)
c.3960A>C (p.Lys1320Asn)
c.3957A>C (p.Lys1319Asn)
c.3876A>C (p.Lys1292Asn)
c.3807A>C (p.Lys1269Asn)
c.3675A>C (p.Lys1225Asn)
c.3543A>C (p.Lys1181Asn)
20g.32436408A>GCA510467566ASXL1c.3696A>G (p.Lys1232=)
c.3513A>G (p.Lys1171=)
n.6049A>G
c.1869+1827A>G (n.1869+1827A>G)
c.3681A>G (p.Lys1227=)
c.3693A>G (p.Lys1231=)
c.3666A>G (p.Lys1222=)
c.3612A>G (p.Lys1204=)
c.3012A>G (p.Lys1004=)
c.3960A>G (p.Lys1320=)
c.3957A>G (p.Lys1319=)
c.3876A>G (p.Lys1292=)
c.3807A>G (p.Lys1269=)
c.3675A>G (p.Lys1225=)
c.3543A>G (p.Lys1181=)
20g.32436408A>TCA408563601ASXL1c.3696A>T (p.Lys1232Asn)
c.3513A>T (p.Lys1171Asn)
n.6049A>T
c.1869+1827A>T (n.1869+1827A>T)
c.3681A>T (p.Lys1227Asn)
c.3693A>T (p.Lys1231Asn)
c.3666A>T (p.Lys1222Asn)
c.3612A>T (p.Lys1204Asn)
c.3012A>T (p.Lys1004Asn)
c.3960A>T (p.Lys1320Asn)
c.3957A>T (p.Lys1319Asn)
c.3876A>T (p.Lys1292Asn)
c.3807A>T (p.Lys1269Asn)
c.3675A>T (p.Lys1225Asn)
c.3543A>T (p.Lys1181Asn)
 COSMIC COSMIC
20g.32436410_32436414delCA2577366320ASXL1c.3698_3702del (p.Glu1233ValfsTer5)
c.3515_3519del (p.Glu1172ValfsTer5)
n.6051_6055del
c.1869+1829_1869+1833del (n.1869+1829_1869+1833del)
c.3683_3687del (p.Glu1228ValfsTer5)
c.3695_3699del (p.Glu1232ValfsTer5)
c.3668_3672del (p.Glu1223ValfsTer5)
c.3614_3618del (p.Glu1205ValfsTer5)
c.3014_3018del (p.Glu1005ValfsTer5)
c.3962_3966del (p.Glu1321ValfsTer5)
c.3959_3963del (p.Glu1320ValfsTer5)
c.3878_3882del (p.Glu1293ValfsTer5)
c.3809_3813del (p.Glu1270ValfsTer5)
c.3677_3681del (p.Glu1226ValfsTer5)
c.3545_3549del (p.Glu1182ValfsTer5)
20g.32436409G>ACA408563603ASXL1c.3697G>A (p.Glu1233Lys)
c.3514G>A (p.Glu1172Lys)
n.6050G>A
c.1869+1828G>A (n.1869+1828G>A)
c.3682G>A (p.Glu1228Lys)
c.3694G>A (p.Glu1232Lys)
c.3667G>A (p.Glu1223Lys)
c.3613G>A (p.Glu1205Lys)
c.3013G>A (p.Glu1005Lys)
c.3961G>A (p.Glu1321Lys)
c.3958G>A (p.Glu1320Lys)
c.3877G>A (p.Glu1293Lys)
c.3808G>A (p.Glu1270Lys)
c.3676G>A (p.Glu1226Lys)
c.3544G>A (p.Glu1182Lys)
20g.32436409G>CCA408563604ASXL1c.3697G>C (p.Glu1233Gln)
c.3514G>C (p.Glu1172Gln)
n.6050G>C
c.1869+1828G>C (n.1869+1828G>C)
c.3682G>C (p.Glu1228Gln)
c.3694G>C (p.Glu1232Gln)
c.3667G>C (p.Glu1223Gln)
c.3613G>C (p.Glu1205Gln)
c.3013G>C (p.Glu1005Gln)
c.3961G>C (p.Glu1321Gln)
c.3958G>C (p.Glu1320Gln)
c.3877G>C (p.Glu1293Gln)
c.3808G>C (p.Glu1270Gln)
c.3676G>C (p.Glu1226Gln)
c.3544G>C (p.Glu1182Gln)
20g.32436409G>TCA408563605ASXL1c.3697G>T (p.Glu1233Ter)
c.3514G>T (p.Glu1172Ter)
n.6050G>T
c.1869+1828G>T (n.1869+1828G>T)
c.3682G>T (p.Glu1228Ter)
c.3694G>T (p.Glu1232Ter)
c.3667G>T (p.Glu1223Ter)
c.3613G>T (p.Glu1205Ter)
c.3013G>T (p.Glu1005Ter)
c.3961G>T (p.Glu1321Ter)
c.3958G>T (p.Glu1320Ter)
c.3877G>T (p.Glu1293Ter)
c.3808G>T (p.Glu1270Ter)
c.3676G>T (p.Glu1226Ter)
c.3544G>T (p.Glu1182Ter)
20g.32436410A=CA2360293686ASXL1c.3698A= (p.Glu1233=)
c.3515A= (p.Glu1172=)
n.6051A=
c.1869+1829A= (n.1869+1829A=)
c.3683A= (p.Glu1228=)
c.3695A= (p.Glu1232=)
c.3668A= (p.Glu1223=)
c.3614A= (p.Glu1205=)
c.3014A= (p.Glu1005=)
c.3962A= (p.Glu1321=)
c.3959A= (p.Glu1320=)
c.3878A= (p.Glu1293=)
c.3809A= (p.Glu1270=)
c.3677A= (p.Glu1226=)
c.3545A= (p.Glu1182=)
20g.32436410A>CCA408563606ASXL1c.3698A>C (p.Glu1233Ala)
c.3515A>C (p.Glu1172Ala)
n.6051A>C
c.1869+1829A>C (n.1869+1829A>C)
c.3683A>C (p.Glu1228Ala)
c.3695A>C (p.Glu1232Ala)
c.3668A>C (p.Glu1223Ala)
c.3614A>C (p.Glu1205Ala)
c.3014A>C (p.Glu1005Ala)
c.3962A>C (p.Glu1321Ala)
c.3959A>C (p.Glu1320Ala)
c.3878A>C (p.Glu1293Ala)
c.3809A>C (p.Glu1270Ala)
c.3677A>C (p.Glu1226Ala)
c.3545A>C (p.Glu1182Ala)
20g.32436410A>GCA408563607ASXL1c.3698A>G (p.Glu1233Gly)
c.3515A>G (p.Glu1172Gly)
n.6051A>G
c.1869+1829A>G (n.1869+1829A>G)
c.3683A>G (p.Glu1228Gly)
c.3695A>G (p.Glu1232Gly)
c.3668A>G (p.Glu1223Gly)
c.3614A>G (p.Glu1205Gly)
c.3014A>G (p.Glu1005Gly)
c.3962A>G (p.Glu1321Gly)
c.3959A>G (p.Glu1320Gly)
c.3878A>G (p.Glu1293Gly)
c.3809A>G (p.Glu1270Gly)
c.3677A>G (p.Glu1226Gly)
c.3545A>G (p.Glu1182Gly)
 dbSNP gnomAD v2 gnomAD v4
20g.32436410A>TCA408563608ASXL1c.3698A>T (p.Glu1233Val)
c.3515A>T (p.Glu1172Val)
n.6051A>T
c.1869+1829A>T (n.1869+1829A>T)
c.3683A>T (p.Glu1228Val)
c.3695A>T (p.Glu1232Val)
c.3668A>T (p.Glu1223Val)
c.3614A>T (p.Glu1205Val)
c.3014A>T (p.Glu1005Val)
c.3962A>T (p.Glu1321Val)
c.3959A>T (p.Glu1320Val)
c.3878A>T (p.Glu1293Val)
c.3809A>T (p.Glu1270Val)
c.3677A>T (p.Glu1226Val)
c.3545A>T (p.Glu1182Val)
20g.32436411G>ACA9808881ASXL1c.3699G>A (p.Glu1233=)
c.3516G>A (p.Glu1172=)
n.6052G>A
c.1869+1830G>A (n.1869+1830G>A)
c.3684G>A (p.Glu1228=)
c.3696G>A (p.Glu1232=)
c.3669G>A (p.Glu1223=)
c.3615G>A (p.Glu1205=)
c.3015G>A (p.Glu1005=)
c.3963G>A (p.Glu1321=)
c.3960G>A (p.Glu1320=)
c.3879G>A (p.Glu1293=)
c.3810G>A (p.Glu1270=)
c.3678G>A (p.Glu1226=)
c.3546G>A (p.Glu1182=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436411G>CCA408563610ASXL1c.3699G>C (p.Glu1233Asp)
c.3516G>C (p.Glu1172Asp)
n.6052G>C
c.1869+1830G>C (n.1869+1830G>C)
c.3684G>C (p.Glu1228Asp)
c.3696G>C (p.Glu1232Asp)
c.3669G>C (p.Glu1223Asp)
c.3615G>C (p.Glu1205Asp)
c.3015G>C (p.Glu1005Asp)
c.3963G>C (p.Glu1321Asp)
c.3960G>C (p.Glu1320Asp)
c.3879G>C (p.Glu1293Asp)
c.3810G>C (p.Glu1270Asp)
c.3678G>C (p.Glu1226Asp)
c.3546G>C (p.Glu1182Asp)
20g.32436411G=CA2360293687ASXL1c.3699G= (p.Glu1233=)
c.3516G= (p.Glu1172=)
n.6052G=
c.1869+1830G= (n.1869+1830G=)
c.3684G= (p.Glu1228=)
c.3696G= (p.Glu1232=)
c.3669G= (p.Glu1223=)
c.3615G= (p.Glu1205=)
c.3015G= (p.Glu1005=)
c.3963G= (p.Glu1321=)
c.3960G= (p.Glu1320=)
c.3879G= (p.Glu1293=)
c.3810G= (p.Glu1270=)
c.3678G= (p.Glu1226=)
c.3546G= (p.Glu1182=)
20g.32436411G>TCA408563609ASXL1c.3699G>T (p.Glu1233Asp)
c.3516G>T (p.Glu1172Asp)
n.6052G>T
c.1869+1830G>T (n.1869+1830G>T)
c.3684G>T (p.Glu1228Asp)
c.3696G>T (p.Glu1232Asp)
c.3669G>T (p.Glu1223Asp)
c.3615G>T (p.Glu1205Asp)
c.3015G>T (p.Glu1005Asp)
c.3963G>T (p.Glu1321Asp)
c.3960G>T (p.Glu1320Asp)
c.3879G>T (p.Glu1293Asp)
c.3810G>T (p.Glu1270Asp)
c.3678G>T (p.Glu1226Asp)
c.3546G>T (p.Glu1182Asp)
 gnomAD v4
20g.32436412C>ACA408563611ASXL1c.3700C>A (p.Gln1234Lys)
c.3517C>A (p.Gln1173Lys)
n.6053C>A
c.1869+1831C>A (n.1869+1831C>A)
c.3685C>A (p.Gln1229Lys)
c.3697C>A (p.Gln1233Lys)
c.3670C>A (p.Gln1224Lys)
c.3616C>A (p.Gln1206Lys)
c.3016C>A (p.Gln1006Lys)
c.3964C>A (p.Gln1322Lys)
c.3961C>A (p.Gln1321Lys)
c.3880C>A (p.Gln1294Lys)
c.3811C>A (p.Gln1271Lys)
c.3679C>A (p.Gln1227Lys)
c.3547C>A (p.Gln1183Lys)
 dbSNP
20g.32436412C=CA2360293688ASXL1c.3700C= (p.Gln1234=)
c.3517C= (p.Gln1173=)
n.6053C=
c.1869+1831C= (n.1869+1831C=)
c.3685C= (p.Gln1229=)
c.3697C= (p.Gln1233=)
c.3670C= (p.Gln1224=)
c.3616C= (p.Gln1206=)
c.3016C= (p.Gln1006=)
c.3964C= (p.Gln1322=)
c.3961C= (p.Gln1321=)
c.3880C= (p.Gln1294=)
c.3811C= (p.Gln1271=)
c.3679C= (p.Gln1227=)
c.3547C= (p.Gln1183=)
20g.32436412C>GCA408563612ASXL1c.3700C>G (p.Gln1234Glu)
c.3517C>G (p.Gln1173Glu)
n.6053C>G
c.1869+1831C>G (n.1869+1831C>G)
c.3685C>G (p.Gln1229Glu)
c.3697C>G (p.Gln1233Glu)
c.3670C>G (p.Gln1224Glu)
c.3616C>G (p.Gln1206Glu)
c.3016C>G (p.Gln1006Glu)
c.3964C>G (p.Gln1322Glu)
c.3961C>G (p.Gln1321Glu)
c.3880C>G (p.Gln1294Glu)
c.3811C>G (p.Gln1271Glu)
c.3679C>G (p.Gln1227Glu)
c.3547C>G (p.Gln1183Glu)
20g.32436412C>TCA408563613ASXL1c.3700C>T (p.Gln1234Ter)
c.3517C>T (p.Gln1173Ter)
n.6053C>T
c.1869+1831C>T (n.1869+1831C>T)
c.3685C>T (p.Gln1229Ter)
c.3697C>T (p.Gln1233Ter)
c.3670C>T (p.Gln1224Ter)
c.3616C>T (p.Gln1206Ter)
c.3016C>T (p.Gln1006Ter)
c.3964C>T (p.Gln1322Ter)
c.3961C>T (p.Gln1321Ter)
c.3880C>T (p.Gln1294Ter)
c.3811C>T (p.Gln1271Ter)
c.3679C>T (p.Gln1227Ter)
c.3547C>T (p.Gln1183Ter)
 ClinVar dbSNP
20g.32436413A>CCA408563614ASXL1c.3701A>C (p.Gln1234Pro)
c.3518A>C (p.Gln1173Pro)
n.6054A>C
c.1869+1832A>C (n.1869+1832A>C)
c.3686A>C (p.Gln1229Pro)
c.3698A>C (p.Gln1233Pro)
c.3671A>C (p.Gln1224Pro)
c.3617A>C (p.Gln1206Pro)
c.3017A>C (p.Gln1006Pro)
c.3965A>C (p.Gln1322Pro)
c.3962A>C (p.Gln1321Pro)
c.3881A>C (p.Gln1294Pro)
c.3812A>C (p.Gln1271Pro)
c.3680A>C (p.Gln1227Pro)
c.3548A>C (p.Gln1183Pro)
20g.32436413A>GCA408563615ASXL1c.3701A>G (p.Gln1234Arg)
c.3518A>G (p.Gln1173Arg)
n.6054A>G
c.1869+1832A>G (n.1869+1832A>G)
c.3686A>G (p.Gln1229Arg)
c.3698A>G (p.Gln1233Arg)
c.3671A>G (p.Gln1224Arg)
c.3617A>G (p.Gln1206Arg)
c.3017A>G (p.Gln1006Arg)
c.3965A>G (p.Gln1322Arg)
c.3962A>G (p.Gln1321Arg)
c.3881A>G (p.Gln1294Arg)
c.3812A>G (p.Gln1271Arg)
c.3680A>G (p.Gln1227Arg)
c.3548A>G (p.Gln1183Arg)
 gnomAD v4
20g.32436413A>TCA408563616ASXL1c.3701A>T (p.Gln1234Leu)
c.3518A>T (p.Gln1173Leu)
n.6054A>T
c.1869+1832A>T (n.1869+1832A>T)
c.3686A>T (p.Gln1229Leu)
c.3698A>T (p.Gln1233Leu)
c.3671A>T (p.Gln1224Leu)
c.3617A>T (p.Gln1206Leu)
c.3017A>T (p.Gln1006Leu)
c.3965A>T (p.Gln1322Leu)
c.3962A>T (p.Gln1321Leu)
c.3881A>T (p.Gln1294Leu)
c.3812A>T (p.Gln1271Leu)
c.3680A>T (p.Gln1227Leu)
c.3548A>T (p.Gln1183Leu)
20g.32436414G>ACA510467571ASXL1c.3702G>A (p.Gln1234=)
c.3519G>A (p.Gln1173=)
n.6055G>A
c.1869+1833G>A (n.1869+1833G>A)
c.3687G>A (p.Gln1229=)
c.3699G>A (p.Gln1233=)
c.3672G>A (p.Gln1224=)
c.3618G>A (p.Gln1206=)
c.3018G>A (p.Gln1006=)
c.3966G>A (p.Gln1322=)
c.3963G>A (p.Gln1321=)
c.3882G>A (p.Gln1294=)
c.3813G>A (p.Gln1271=)
c.3681G>A (p.Gln1227=)
c.3549G>A (p.Gln1183=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436414G>CCA408563617ASXL1c.3702G>C (p.Gln1234His)
c.3519G>C (p.Gln1173His)
n.6055G>C
c.1869+1833G>C (n.1869+1833G>C)
c.3687G>C (p.Gln1229His)
c.3699G>C (p.Gln1233His)
c.3672G>C (p.Gln1224His)
c.3618G>C (p.Gln1206His)
c.3018G>C (p.Gln1006His)
c.3966G>C (p.Gln1322His)
c.3963G>C (p.Gln1321His)
c.3882G>C (p.Gln1294His)
c.3813G>C (p.Gln1271His)
c.3681G>C (p.Gln1227His)
c.3549G>C (p.Gln1183His)
20g.32436414G=CA2360293689ASXL1c.3702G= (p.Gln1234=)
c.3519G= (p.Gln1173=)
n.6055G=
c.1869+1833G= (n.1869+1833G=)
c.3687G= (p.Gln1229=)
c.3699G= (p.Gln1233=)
c.3672G= (p.Gln1224=)
c.3618G= (p.Gln1206=)
c.3018G= (p.Gln1006=)
c.3966G= (p.Gln1322=)
c.3963G= (p.Gln1321=)
c.3882G= (p.Gln1294=)
c.3813G= (p.Gln1271=)
c.3681G= (p.Gln1227=)
c.3549G= (p.Gln1183=)
20g.32436414G>TCA408563618ASXL1c.3702G>T (p.Gln1234His)
c.3519G>T (p.Gln1173His)
n.6055G>T
c.1869+1833G>T (n.1869+1833G>T)
c.3687G>T (p.Gln1229His)
c.3699G>T (p.Gln1233His)
c.3672G>T (p.Gln1224His)
c.3618G>T (p.Gln1206His)
c.3018G>T (p.Gln1006His)
c.3966G>T (p.Gln1322His)
c.3963G>T (p.Gln1321His)
c.3882G>T (p.Gln1294His)
c.3813G>T (p.Gln1271His)
c.3681G>T (p.Gln1227His)
c.3549G>T (p.Gln1183His)
20g.32436415T>ACA408563619ASXL1c.3703T>A (p.Phe1235Ile)
c.3520T>A (p.Phe1174Ile)
n.6056T>A
c.1869+1834T>A (n.1869+1834T>A)
c.3688T>A (p.Phe1230Ile)
c.3700T>A (p.Phe1234Ile)
c.3673T>A (p.Phe1225Ile)
c.3619T>A (p.Phe1207Ile)
c.3019T>A (p.Phe1007Ile)
c.3967T>A (p.Phe1323Ile)
c.3964T>A (p.Phe1322Ile)
c.3883T>A (p.Phe1295Ile)
c.3814T>A (p.Phe1272Ile)
c.3682T>A (p.Phe1228Ile)
c.3550T>A (p.Phe1184Ile)
20g.32436415T>CCA408563620ASXL1c.3703T>C (p.Phe1235Leu)
c.3520T>C (p.Phe1174Leu)
n.6056T>C
c.1869+1834T>C (n.1869+1834T>C)
c.3688T>C (p.Phe1230Leu)
c.3700T>C (p.Phe1234Leu)
c.3673T>C (p.Phe1225Leu)
c.3619T>C (p.Phe1207Leu)
c.3019T>C (p.Phe1007Leu)
c.3967T>C (p.Phe1323Leu)
c.3964T>C (p.Phe1322Leu)
c.3883T>C (p.Phe1295Leu)
c.3814T>C (p.Phe1272Leu)
c.3682T>C (p.Phe1228Leu)
c.3550T>C (p.Phe1184Leu)
20g.32436415T>GCA408563621ASXL1c.3703T>G (p.Phe1235Val)
c.3520T>G (p.Phe1174Val)
n.6056T>G
c.1869+1834T>G (n.1869+1834T>G)
c.3688T>G (p.Phe1230Val)
c.3700T>G (p.Phe1234Val)
c.3673T>G (p.Phe1225Val)
c.3619T>G (p.Phe1207Val)
c.3019T>G (p.Phe1007Val)
c.3967T>G (p.Phe1323Val)
c.3964T>G (p.Phe1322Val)
c.3883T>G (p.Phe1295Val)
c.3814T>G (p.Phe1272Val)
c.3682T>G (p.Phe1228Val)
c.3550T>G (p.Phe1184Val)
 dbSNP gnomAD v2 gnomAD v4
20g.32436415T=CA2360293690ASXL1c.3703T= (p.Phe1235=)
c.3520T= (p.Phe1174=)
n.6056T=
c.1869+1834T= (n.1869+1834T=)
c.3688T= (p.Phe1230=)
c.3700T= (p.Phe1234=)
c.3673T= (p.Phe1225=)
c.3619T= (p.Phe1207=)
c.3019T= (p.Phe1007=)
c.3967T= (p.Phe1323=)
c.3964T= (p.Phe1322=)
c.3883T= (p.Phe1295=)
c.3814T= (p.Phe1272=)
c.3682T= (p.Phe1228=)
c.3550T= (p.Phe1184=)
20g.32436416T>ACA408563623ASXL1c.3704T>A (p.Phe1235Tyr)
c.3521T>A (p.Phe1174Tyr)
n.6057T>A
c.1869+1835T>A (n.1869+1835T>A)
c.3689T>A (p.Phe1230Tyr)
c.3701T>A (p.Phe1234Tyr)
c.3674T>A (p.Phe1225Tyr)
c.3620T>A (p.Phe1207Tyr)
c.3020T>A (p.Phe1007Tyr)
c.3968T>A (p.Phe1323Tyr)
c.3965T>A (p.Phe1322Tyr)
c.3884T>A (p.Phe1295Tyr)
c.3815T>A (p.Phe1272Tyr)
c.3683T>A (p.Phe1228Tyr)
c.3551T>A (p.Phe1184Tyr)
20g.32436416T>CCA408563624ASXL1c.3704T>C (p.Phe1235Ser)
c.3521T>C (p.Phe1174Ser)
n.6057T>C
c.1869+1835T>C (n.1869+1835T>C)
c.3689T>C (p.Phe1230Ser)
c.3701T>C (p.Phe1234Ser)
c.3674T>C (p.Phe1225Ser)
c.3620T>C (p.Phe1207Ser)
c.3020T>C (p.Phe1007Ser)
c.3968T>C (p.Phe1323Ser)
c.3965T>C (p.Phe1322Ser)
c.3884T>C (p.Phe1295Ser)
c.3815T>C (p.Phe1272Ser)
c.3683T>C (p.Phe1228Ser)
c.3551T>C (p.Phe1184Ser)
20g.32436416T>GCA408563622ASXL1c.3704T>G (p.Phe1235Cys)
c.3521T>G (p.Phe1174Cys)
n.6057T>G
c.1869+1835T>G (n.1869+1835T>G)
c.3689T>G (p.Phe1230Cys)
c.3701T>G (p.Phe1234Cys)
c.3674T>G (p.Phe1225Cys)
c.3620T>G (p.Phe1207Cys)
c.3020T>G (p.Phe1007Cys)
c.3968T>G (p.Phe1323Cys)
c.3965T>G (p.Phe1322Cys)
c.3884T>G (p.Phe1295Cys)
c.3815T>G (p.Phe1272Cys)
c.3683T>G (p.Phe1228Cys)
c.3551T>G (p.Phe1184Cys)
20g.32436417C>ACA408563626ASXL1c.3705C>A (p.Phe1235Leu)
c.3522C>A (p.Phe1174Leu)
n.6058C>A
c.1869+1836C>A (n.1869+1836C>A)
c.3690C>A (p.Phe1230Leu)
c.3702C>A (p.Phe1234Leu)
c.3675C>A (p.Phe1225Leu)
c.3621C>A (p.Phe1207Leu)
c.3021C>A (p.Phe1007Leu)
c.3969C>A (p.Phe1323Leu)
c.3966C>A (p.Phe1322Leu)
c.3885C>A (p.Phe1295Leu)
c.3816C>A (p.Phe1272Leu)
c.3684C>A (p.Phe1228Leu)
c.3552C>A (p.Phe1184Leu)
20g.32436417C>GCA408563625ASXL1c.3705C>G (p.Phe1235Leu)
c.3522C>G (p.Phe1174Leu)
n.6058C>G
c.1869+1836C>G (n.1869+1836C>G)
c.3690C>G (p.Phe1230Leu)
c.3702C>G (p.Phe1234Leu)
c.3675C>G (p.Phe1225Leu)
c.3621C>G (p.Phe1207Leu)
c.3021C>G (p.Phe1007Leu)
c.3969C>G (p.Phe1323Leu)
c.3966C>G (p.Phe1322Leu)
c.3885C>G (p.Phe1295Leu)
c.3816C>G (p.Phe1272Leu)
c.3684C>G (p.Phe1228Leu)
c.3552C>G (p.Phe1184Leu)
20g.32436417C>TCA510467575ASXL1c.3705C>T (p.Phe1235=)
c.3522C>T (p.Phe1174=)
n.6058C>T
c.1869+1836C>T (n.1869+1836C>T)
c.3690C>T (p.Phe1230=)
c.3702C>T (p.Phe1234=)
c.3675C>T (p.Phe1225=)
c.3621C>T (p.Phe1207=)
c.3021C>T (p.Phe1007=)
c.3969C>T (p.Phe1323=)
c.3966C>T (p.Phe1322=)
c.3885C>T (p.Phe1295=)
c.3816C>T (p.Phe1272=)
c.3684C>T (p.Phe1228=)
c.3552C>T (p.Phe1184=)
 gnomAD v4
20g.32436418T>ACA408563628ASXL1c.3706T>A (p.Ser1236Thr)
c.3523T>A (p.Ser1175Thr)
n.6059T>A
c.1869+1837T>A (n.1869+1837T>A)
c.3691T>A (p.Ser1231Thr)
c.3703T>A (p.Ser1235Thr)
c.3676T>A (p.Ser1226Thr)
c.3622T>A (p.Ser1208Thr)
c.3022T>A (p.Ser1008Thr)
c.3970T>A (p.Ser1324Thr)
c.3967T>A (p.Ser1323Thr)
c.3886T>A (p.Ser1296Thr)
c.3817T>A (p.Ser1273Thr)
c.3685T>A (p.Ser1229Thr)
c.3553T>A (p.Ser1185Thr)
20g.32436418T>CCA408563627ASXL1c.3706T>C (p.Ser1236Pro)
c.3523T>C (p.Ser1175Pro)
n.6059T>C
c.1869+1837T>C (n.1869+1837T>C)
c.3691T>C (p.Ser1231Pro)
c.3703T>C (p.Ser1235Pro)
c.3676T>C (p.Ser1226Pro)
c.3622T>C (p.Ser1208Pro)
c.3022T>C (p.Ser1008Pro)
c.3970T>C (p.Ser1324Pro)
c.3967T>C (p.Ser1323Pro)
c.3886T>C (p.Ser1296Pro)
c.3817T>C (p.Ser1273Pro)
c.3685T>C (p.Ser1229Pro)
c.3553T>C (p.Ser1185Pro)
20g.32436418T>GCA9808882ASXL1c.3706T>G (p.Ser1236Ala)
c.3523T>G (p.Ser1175Ala)
n.6059T>G
c.1869+1837T>G (n.1869+1837T>G)
c.3691T>G (p.Ser1231Ala)
c.3703T>G (p.Ser1235Ala)
c.3676T>G (p.Ser1226Ala)
c.3622T>G (p.Ser1208Ala)
c.3022T>G (p.Ser1008Ala)
c.3970T>G (p.Ser1324Ala)
c.3967T>G (p.Ser1323Ala)
c.3886T>G (p.Ser1296Ala)
c.3817T>G (p.Ser1273Ala)
c.3685T>G (p.Ser1229Ala)
c.3553T>G (p.Ser1185Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436418T=CA2360293691ASXL1c.3706T= (p.Ser1236=)
c.3523T= (p.Ser1175=)
n.6059T=
c.1869+1837T= (n.1869+1837T=)
c.3691T= (p.Ser1231=)
c.3703T= (p.Ser1235=)
c.3676T= (p.Ser1226=)
c.3622T= (p.Ser1208=)
c.3022T= (p.Ser1008=)
c.3970T= (p.Ser1324=)
c.3967T= (p.Ser1323=)
c.3886T= (p.Ser1296=)
c.3817T= (p.Ser1273=)
c.3685T= (p.Ser1229=)
c.3553T= (p.Ser1185=)
20g.32436419C>ACA408563629ASXL1c.3707C>A (p.Ser1236Tyr)
c.3524C>A (p.Ser1175Tyr)
n.6060C>A
c.1869+1838C>A (n.1869+1838C>A)
c.3692C>A (p.Ser1231Tyr)
c.3704C>A (p.Ser1235Tyr)
c.3677C>A (p.Ser1226Tyr)
c.3623C>A (p.Ser1208Tyr)
c.3023C>A (p.Ser1008Tyr)
c.3971C>A (p.Ser1324Tyr)
c.3968C>A (p.Ser1323Tyr)
c.3887C>A (p.Ser1296Tyr)
c.3818C>A (p.Ser1273Tyr)
c.3686C>A (p.Ser1229Tyr)
c.3554C>A (p.Ser1185Tyr)
20g.32436419C>GCA408563630ASXL1c.3707C>G (p.Ser1236Cys)
c.3524C>G (p.Ser1175Cys)
n.6060C>G
c.1869+1838C>G (n.1869+1838C>G)
c.3692C>G (p.Ser1231Cys)
c.3704C>G (p.Ser1235Cys)
c.3677C>G (p.Ser1226Cys)
c.3623C>G (p.Ser1208Cys)
c.3023C>G (p.Ser1008Cys)
c.3971C>G (p.Ser1324Cys)
c.3968C>G (p.Ser1323Cys)
c.3887C>G (p.Ser1296Cys)
c.3818C>G (p.Ser1273Cys)
c.3686C>G (p.Ser1229Cys)
c.3554C>G (p.Ser1185Cys)
 dbSNP
20g.32436419C>TCA408563631ASXL1c.3707C>T (p.Ser1236Phe)
c.3524C>T (p.Ser1175Phe)
n.6060C>T
c.1869+1838C>T (n.1869+1838C>T)
c.3692C>T (p.Ser1231Phe)
c.3704C>T (p.Ser1235Phe)
c.3677C>T (p.Ser1226Phe)
c.3623C>T (p.Ser1208Phe)
c.3023C>T (p.Ser1008Phe)
c.3971C>T (p.Ser1324Phe)
c.3968C>T (p.Ser1323Phe)
c.3887C>T (p.Ser1296Phe)
c.3818C>T (p.Ser1273Phe)
c.3686C>T (p.Ser1229Phe)
c.3554C>T (p.Ser1185Phe)
 dbSNP
20g.32436420T>ACA510467580ASXL1c.3708T>A (p.Ser1236=)
c.3525T>A (p.Ser1175=)
n.6061T>A
c.1869+1839T>A (n.1869+1839T>A)
c.3693T>A (p.Ser1231=)
c.3705T>A (p.Ser1235=)
c.3678T>A (p.Ser1226=)
c.3624T>A (p.Ser1208=)
c.3024T>A (p.Ser1008=)
c.3972T>A (p.Ser1324=)
c.3969T>A (p.Ser1323=)
c.3888T>A (p.Ser1296=)
c.3819T>A (p.Ser1273=)
c.3687T>A (p.Ser1229=)
c.3555T>A (p.Ser1185=)
 dbSNP
20g.32436420T>CCA510467577ASXL1c.3708T>C (p.Ser1236=)
c.3525T>C (p.Ser1175=)
n.6061T>C
c.1869+1839T>C (n.1869+1839T>C)
c.3693T>C (p.Ser1231=)
c.3705T>C (p.Ser1235=)
c.3678T>C (p.Ser1226=)
c.3624T>C (p.Ser1208=)
c.3024T>C (p.Ser1008=)
c.3972T>C (p.Ser1324=)
c.3969T>C (p.Ser1323=)
c.3888T>C (p.Ser1296=)
c.3819T>C (p.Ser1273=)
c.3687T>C (p.Ser1229=)
c.3555T>C (p.Ser1185=)
20g.32436420T>GCA510467578ASXL1c.3708T>G (p.Ser1236=)
c.3525T>G (p.Ser1175=)
n.6061T>G
c.1869+1839T>G (n.1869+1839T>G)
c.3693T>G (p.Ser1231=)
c.3705T>G (p.Ser1235=)
c.3678T>G (p.Ser1226=)
c.3624T>G (p.Ser1208=)
c.3024T>G (p.Ser1008=)
c.3972T>G (p.Ser1324=)
c.3969T>G (p.Ser1323=)
c.3888T>G (p.Ser1296=)
c.3819T>G (p.Ser1273=)
c.3687T>G (p.Ser1229=)
c.3555T>G (p.Ser1185=)
20g.32436421T>ACA408563634ASXL1c.3709T>A (p.Ser1237Thr)
c.3526T>A (p.Ser1176Thr)
n.6062T>A
c.1869+1840T>A (n.1869+1840T>A)
c.3694T>A (p.Ser1232Thr)
c.3706T>A (p.Ser1236Thr)
c.3679T>A (p.Ser1227Thr)
c.3625T>A (p.Ser1209Thr)
c.3025T>A (p.Ser1009Thr)
c.3973T>A (p.Ser1325Thr)
c.3970T>A (p.Ser1324Thr)
c.3889T>A (p.Ser1297Thr)
c.3820T>A (p.Ser1274Thr)
c.3688T>A (p.Ser1230Thr)
c.3556T>A (p.Ser1186Thr)
20g.32436421T>CCA408563633ASXL1c.3709T>C (p.Ser1237Pro)
c.3526T>C (p.Ser1176Pro)
n.6062T>C
c.1869+1840T>C (n.1869+1840T>C)
c.3694T>C (p.Ser1232Pro)
c.3706T>C (p.Ser1236Pro)
c.3679T>C (p.Ser1227Pro)
c.3625T>C (p.Ser1209Pro)
c.3025T>C (p.Ser1009Pro)
c.3973T>C (p.Ser1325Pro)
c.3970T>C (p.Ser1324Pro)
c.3889T>C (p.Ser1297Pro)
c.3820T>C (p.Ser1274Pro)
c.3688T>C (p.Ser1230Pro)
c.3556T>C (p.Ser1186Pro)
 dbSNP
20g.32436421T>GCA408563632ASXL1c.3709T>G (p.Ser1237Ala)
c.3526T>G (p.Ser1176Ala)
n.6062T>G
c.1869+1840T>G (n.1869+1840T>G)
c.3694T>G (p.Ser1232Ala)
c.3706T>G (p.Ser1236Ala)
c.3679T>G (p.Ser1227Ala)
c.3625T>G (p.Ser1209Ala)
c.3025T>G (p.Ser1009Ala)
c.3973T>G (p.Ser1325Ala)
c.3970T>G (p.Ser1324Ala)
c.3889T>G (p.Ser1297Ala)
c.3820T>G (p.Ser1274Ala)
c.3688T>G (p.Ser1230Ala)
c.3556T>G (p.Ser1186Ala)
20g.32436421T=CA2360293692ASXL1c.3709T= (p.Ser1237=)
c.3526T= (p.Ser1176=)
n.6062T=
c.1869+1840T= (n.1869+1840T=)
c.3694T= (p.Ser1232=)
c.3706T= (p.Ser1236=)
c.3679T= (p.Ser1227=)
c.3625T= (p.Ser1209=)
c.3025T= (p.Ser1009=)
c.3973T= (p.Ser1325=)
c.3970T= (p.Ser1324=)
c.3889T= (p.Ser1297=)
c.3820T= (p.Ser1274=)
c.3688T= (p.Ser1230=)
c.3556T= (p.Ser1186=)
20g.32436422C>ACA408563635ASXL1c.3710C>A (p.Ser1237Tyr)
c.3527C>A (p.Ser1176Tyr)
n.6063C>A
c.1869+1841C>A (n.1869+1841C>A)
c.3695C>A (p.Ser1232Tyr)
c.3707C>A (p.Ser1236Tyr)
c.3680C>A (p.Ser1227Tyr)
c.3626C>A (p.Ser1209Tyr)
c.3026C>A (p.Ser1009Tyr)
c.3974C>A (p.Ser1325Tyr)
c.3971C>A (p.Ser1324Tyr)
c.3890C>A (p.Ser1297Tyr)
c.3821C>A (p.Ser1274Tyr)
c.3689C>A (p.Ser1230Tyr)
c.3557C>A (p.Ser1186Tyr)
20g.32436422C=CA2360293693ASXL1c.3710C= (p.Ser1237=)
c.3527C= (p.Ser1176=)
n.6063C=
c.1869+1841C= (n.1869+1841C=)
c.3695C= (p.Ser1232=)
c.3707C= (p.Ser1236=)
c.3680C= (p.Ser1227=)
c.3626C= (p.Ser1209=)
c.3026C= (p.Ser1009=)
c.3974C= (p.Ser1325=)
c.3971C= (p.Ser1324=)
c.3890C= (p.Ser1297=)
c.3821C= (p.Ser1274=)
c.3689C= (p.Ser1230=)
c.3557C= (p.Ser1186=)
20g.32436422C>GCA408563636ASXL1c.3710C>G (p.Ser1237Cys)
c.3527C>G (p.Ser1176Cys)
n.6063C>G
c.1869+1841C>G (n.1869+1841C>G)
c.3695C>G (p.Ser1232Cys)
c.3707C>G (p.Ser1236Cys)
c.3680C>G (p.Ser1227Cys)
c.3626C>G (p.Ser1209Cys)
c.3026C>G (p.Ser1009Cys)
c.3974C>G (p.Ser1325Cys)
c.3971C>G (p.Ser1324Cys)
c.3890C>G (p.Ser1297Cys)
c.3821C>G (p.Ser1274Cys)
c.3689C>G (p.Ser1230Cys)
c.3557C>G (p.Ser1186Cys)
20g.32436422C>TCA9808883ASXL1c.3710C>T (p.Ser1237Phe)
c.3527C>T (p.Ser1176Phe)
n.6063C>T
c.1869+1841C>T (n.1869+1841C>T)
c.3695C>T (p.Ser1232Phe)
c.3707C>T (p.Ser1236Phe)
c.3680C>T (p.Ser1227Phe)
c.3626C>T (p.Ser1209Phe)
c.3026C>T (p.Ser1009Phe)
c.3974C>T (p.Ser1325Phe)
c.3971C>T (p.Ser1324Phe)
c.3890C>T (p.Ser1297Phe)
c.3821C>T (p.Ser1274Phe)
c.3689C>T (p.Ser1230Phe)
c.3557C>T (p.Ser1186Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436423delCA2652401238ASXL1c.3711del (p.Phe1238LeufsTer?)
c.3528del (p.Phe1177LeufsTer?)
n.6064del
c.1869+1842del (n.1869+1842del)
c.3696del (p.Phe1233LeufsTer?)
c.3708del (p.Phe1237LeufsTer?)
c.3681del (p.Phe1228LeufsTer?)
c.3627del (p.Phe1210LeufsTer?)
c.3027del (p.Phe1010LeufsTer?)
c.3975del (p.Phe1326LeufsTer?)
c.3972del (p.Phe1325LeufsTer?)
c.3891del (p.Phe1298LeufsTer?)
c.3822del (p.Phe1275LeufsTer?)
c.3690del (p.Phe1231LeufsTer?)
c.3558del (p.Phe1187LeufsTer?)
 gnomAD v4
20g.32436423C>ACA510467582ASXL1c.3711C>A (p.Ser1237=)
c.3528C>A (p.Ser1176=)
n.6064C>A
c.1869+1842C>A (n.1869+1842C>A)
c.3696C>A (p.Ser1232=)
c.3708C>A (p.Ser1236=)
c.3681C>A (p.Ser1227=)
c.3627C>A (p.Ser1209=)
c.3027C>A (p.Ser1009=)
c.3975C>A (p.Ser1325=)
c.3972C>A (p.Ser1324=)
c.3891C>A (p.Ser1297=)
c.3822C>A (p.Ser1274=)
c.3690C>A (p.Ser1230=)
c.3558C>A (p.Ser1186=)
20g.32436423C=CA2360293694ASXL1c.3711C= (p.Ser1237=)
c.3528C= (p.Ser1176=)
n.6064C=
c.1869+1842C= (n.1869+1842C=)
c.3696C= (p.Ser1232=)
c.3708C= (p.Ser1236=)
c.3681C= (p.Ser1227=)
c.3627C= (p.Ser1209=)
c.3027C= (p.Ser1009=)
c.3975C= (p.Ser1325=)
c.3972C= (p.Ser1324=)
c.3891C= (p.Ser1297=)
c.3822C= (p.Ser1274=)
c.3690C= (p.Ser1230=)
c.3558C= (p.Ser1186=)
20g.32436423C>GCA510467583ASXL1c.3711C>G (p.Ser1237=)
c.3528C>G (p.Ser1176=)
n.6064C>G
c.1869+1842C>G (n.1869+1842C>G)
c.3696C>G (p.Ser1232=)
c.3708C>G (p.Ser1236=)
c.3681C>G (p.Ser1227=)
c.3627C>G (p.Ser1209=)
c.3027C>G (p.Ser1009=)
c.3975C>G (p.Ser1325=)
c.3972C>G (p.Ser1324=)
c.3891C>G (p.Ser1297=)
c.3822C>G (p.Ser1274=)
c.3690C>G (p.Ser1230=)
c.3558C>G (p.Ser1186=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436423C>TCA510467584ASXL1c.3711C>T (p.Ser1237=)
c.3528C>T (p.Ser1176=)
n.6064C>T
c.1869+1842C>T (n.1869+1842C>T)
c.3696C>T (p.Ser1232=)
c.3708C>T (p.Ser1236=)
c.3681C>T (p.Ser1227=)
c.3627C>T (p.Ser1209=)
c.3027C>T (p.Ser1009=)
c.3975C>T (p.Ser1325=)
c.3972C>T (p.Ser1324=)
c.3891C>T (p.Ser1297=)
c.3822C>T (p.Ser1274=)
c.3690C>T (p.Ser1230=)
c.3558C>T (p.Ser1186=)
 dbSNP
20g.32436424T>ACA408563637ASXL1c.3712T>A (p.Phe1238Ile)
c.3529T>A (p.Phe1177Ile)
n.6065T>A
c.1869+1843T>A (n.1869+1843T>A)
c.3697T>A (p.Phe1233Ile)
c.3709T>A (p.Phe1237Ile)
c.3682T>A (p.Phe1228Ile)
c.3628T>A (p.Phe1210Ile)
c.3028T>A (p.Phe1010Ile)
c.3976T>A (p.Phe1326Ile)
c.3973T>A (p.Phe1325Ile)
c.3892T>A (p.Phe1298Ile)
c.3823T>A (p.Phe1275Ile)
c.3691T>A (p.Phe1231Ile)
c.3559T>A (p.Phe1187Ile)
20g.32436424T>CCA408563638ASXL1c.3712T>C (p.Phe1238Leu)
c.3529T>C (p.Phe1177Leu)
n.6065T>C
c.1869+1843T>C (n.1869+1843T>C)
c.3697T>C (p.Phe1233Leu)
c.3709T>C (p.Phe1237Leu)
c.3682T>C (p.Phe1228Leu)
c.3628T>C (p.Phe1210Leu)
c.3028T>C (p.Phe1010Leu)
c.3976T>C (p.Phe1326Leu)
c.3973T>C (p.Phe1325Leu)
c.3892T>C (p.Phe1298Leu)
c.3823T>C (p.Phe1275Leu)
c.3691T>C (p.Phe1231Leu)
c.3559T>C (p.Phe1187Leu)
20g.32436424T>GCA408563639ASXL1c.3712T>G (p.Phe1238Val)
c.3529T>G (p.Phe1177Val)
n.6065T>G
c.1869+1843T>G (n.1869+1843T>G)
c.3697T>G (p.Phe1233Val)
c.3709T>G (p.Phe1237Val)
c.3682T>G (p.Phe1228Val)
c.3628T>G (p.Phe1210Val)
c.3028T>G (p.Phe1010Val)
c.3976T>G (p.Phe1326Val)
c.3973T>G (p.Phe1325Val)
c.3892T>G (p.Phe1298Val)
c.3823T>G (p.Phe1275Val)
c.3691T>G (p.Phe1231Val)
c.3559T>G (p.Phe1187Val)
20g.32436425T>ACA408563640ASXL1c.3713T>A (p.Phe1238Tyr)
c.3530T>A (p.Phe1177Tyr)
n.6066T>A
c.1869+1844T>A (n.1869+1844T>A)
c.3698T>A (p.Phe1233Tyr)
c.3710T>A (p.Phe1237Tyr)
c.3683T>A (p.Phe1228Tyr)
c.3629T>A (p.Phe1210Tyr)
c.3029T>A (p.Phe1010Tyr)
c.3977T>A (p.Phe1326Tyr)
c.3974T>A (p.Phe1325Tyr)
c.3893T>A (p.Phe1298Tyr)
c.3824T>A (p.Phe1275Tyr)
c.3692T>A (p.Phe1231Tyr)
c.3560T>A (p.Phe1187Tyr)
20g.32436425T>CCA408563641ASXL1c.3713T>C (p.Phe1238Ser)
c.3530T>C (p.Phe1177Ser)
n.6066T>C
c.1869+1844T>C (n.1869+1844T>C)
c.3698T>C (p.Phe1233Ser)
c.3710T>C (p.Phe1237Ser)
c.3683T>C (p.Phe1228Ser)
c.3629T>C (p.Phe1210Ser)
c.3029T>C (p.Phe1010Ser)
c.3977T>C (p.Phe1326Ser)
c.3974T>C (p.Phe1325Ser)
c.3893T>C (p.Phe1298Ser)
c.3824T>C (p.Phe1275Ser)
c.3692T>C (p.Phe1231Ser)
c.3560T>C (p.Phe1187Ser)
20g.32436425T>GCA9808884ASXL1c.3713T>G (p.Phe1238Cys)
c.3530T>G (p.Phe1177Cys)
n.6066T>G
c.1869+1844T>G (n.1869+1844T>G)
c.3698T>G (p.Phe1233Cys)
c.3710T>G (p.Phe1237Cys)
c.3683T>G (p.Phe1228Cys)
c.3629T>G (p.Phe1210Cys)
c.3029T>G (p.Phe1010Cys)
c.3977T>G (p.Phe1326Cys)
c.3974T>G (p.Phe1325Cys)
c.3893T>G (p.Phe1298Cys)
c.3824T>G (p.Phe1275Cys)
c.3692T>G (p.Phe1231Cys)
c.3560T>G (p.Phe1187Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436425T=CA2360293695ASXL1c.3713T= (p.Phe1238=)
c.3530T= (p.Phe1177=)
n.6066T=
c.1869+1844T= (n.1869+1844T=)
c.3698T= (p.Phe1233=)
c.3710T= (p.Phe1237=)
c.3683T= (p.Phe1228=)
c.3629T= (p.Phe1210=)
c.3029T= (p.Phe1010=)
c.3977T= (p.Phe1326=)
c.3974T= (p.Phe1325=)
c.3893T= (p.Phe1298=)
c.3824T= (p.Phe1275=)
c.3692T= (p.Phe1231=)
c.3560T= (p.Phe1187=)
20g.32436426T>ACA408563642ASXL1c.3714T>A (p.Phe1238Leu)
c.3531T>A (p.Phe1177Leu)
n.6067T>A
c.1869+1845T>A (n.1869+1845T>A)
c.3699T>A (p.Phe1233Leu)
c.3711T>A (p.Phe1237Leu)
c.3684T>A (p.Phe1228Leu)
c.3630T>A (p.Phe1210Leu)
c.3030T>A (p.Phe1010Leu)
c.3978T>A (p.Phe1326Leu)
c.3975T>A (p.Phe1325Leu)
c.3894T>A (p.Phe1298Leu)
c.3825T>A (p.Phe1275Leu)
c.3693T>A (p.Phe1231Leu)
c.3561T>A (p.Phe1187Leu)
20g.32436426T>CCA510467588ASXL1c.3714T>C (p.Phe1238=)
c.3531T>C (p.Phe1177=)
n.6067T>C
c.1869+1845T>C (n.1869+1845T>C)
c.3699T>C (p.Phe1233=)
c.3711T>C (p.Phe1237=)
c.3684T>C (p.Phe1228=)
c.3630T>C (p.Phe1210=)
c.3030T>C (p.Phe1010=)
c.3978T>C (p.Phe1326=)
c.3975T>C (p.Phe1325=)
c.3894T>C (p.Phe1298=)
c.3825T>C (p.Phe1275=)
c.3693T>C (p.Phe1231=)
c.3561T>C (p.Phe1187=)
 dbSNP gnomAD v3 gnomAD v4
20g.32436426T>GCA408563643ASXL1c.3714T>G (p.Phe1238Leu)
c.3531T>G (p.Phe1177Leu)
n.6067T>G
c.1869+1845T>G (n.1869+1845T>G)
c.3699T>G (p.Phe1233Leu)
c.3711T>G (p.Phe1237Leu)
c.3684T>G (p.Phe1228Leu)
c.3630T>G (p.Phe1210Leu)
c.3030T>G (p.Phe1010Leu)
c.3978T>G (p.Phe1326Leu)
c.3975T>G (p.Phe1325Leu)
c.3894T>G (p.Phe1298Leu)
c.3825T>G (p.Phe1275Leu)
c.3693T>G (p.Phe1231Leu)
c.3561T>G (p.Phe1187Leu)
20g.32436426T=CA2360293696ASXL1c.3714T= (p.Phe1238=)
c.3531T= (p.Phe1177=)
n.6067T=
c.1869+1845T= (n.1869+1845T=)
c.3699T= (p.Phe1233=)
c.3711T= (p.Phe1237=)
c.3684T= (p.Phe1228=)
c.3630T= (p.Phe1210=)
c.3030T= (p.Phe1010=)
c.3978T= (p.Phe1326=)
c.3975T= (p.Phe1325=)
c.3894T= (p.Phe1298=)
c.3825T= (p.Phe1275=)
c.3693T= (p.Phe1231=)
c.3561T= (p.Phe1187=)
20g.32436427A>CCA408563644ASXL1c.3715A>C (p.Ser1239Arg)
c.3532A>C (p.Ser1178Arg)
n.6068A>C
c.1869+1846A>C (n.1869+1846A>C)
c.3700A>C (p.Ser1234Arg)
c.3712A>C (p.Ser1238Arg)
c.3685A>C (p.Ser1229Arg)
c.3631A>C (p.Ser1211Arg)
c.3031A>C (p.Ser1011Arg)
c.3979A>C (p.Ser1327Arg)
c.3976A>C (p.Ser1326Arg)
c.3895A>C (p.Ser1299Arg)
c.3826A>C (p.Ser1276Arg)
c.3694A>C (p.Ser1232Arg)
c.3562A>C (p.Ser1188Arg)
20g.32436427A>GCA408563645ASXL1c.3715A>G (p.Ser1239Gly)
c.3532A>G (p.Ser1178Gly)
n.6068A>G
c.1869+1846A>G (n.1869+1846A>G)
c.3700A>G (p.Ser1234Gly)
c.3712A>G (p.Ser1238Gly)
c.3685A>G (p.Ser1229Gly)
c.3631A>G (p.Ser1211Gly)
c.3031A>G (p.Ser1011Gly)
c.3979A>G (p.Ser1327Gly)
c.3976A>G (p.Ser1326Gly)
c.3895A>G (p.Ser1299Gly)
c.3826A>G (p.Ser1276Gly)
c.3694A>G (p.Ser1232Gly)
c.3562A>G (p.Ser1188Gly)
20g.32436427A>TCA408563646ASXL1c.3715A>T (p.Ser1239Cys)
c.3532A>T (p.Ser1178Cys)
n.6068A>T
c.1869+1846A>T (n.1869+1846A>T)
c.3700A>T (p.Ser1234Cys)
c.3712A>T (p.Ser1238Cys)
c.3685A>T (p.Ser1229Cys)
c.3631A>T (p.Ser1211Cys)
c.3031A>T (p.Ser1011Cys)
c.3979A>T (p.Ser1327Cys)
c.3976A>T (p.Ser1326Cys)
c.3895A>T (p.Ser1299Cys)
c.3826A>T (p.Ser1276Cys)
c.3694A>T (p.Ser1232Cys)
c.3562A>T (p.Ser1188Cys)
20g.32436428G>ACA408563647ASXL1c.3716G>A (p.Ser1239Asn)
c.3533G>A (p.Ser1178Asn)
n.6069G>A
c.1869+1847G>A (n.1869+1847G>A)
c.3701G>A (p.Ser1234Asn)
c.3713G>A (p.Ser1238Asn)
c.3686G>A (p.Ser1229Asn)
c.3632G>A (p.Ser1211Asn)
c.3032G>A (p.Ser1011Asn)
c.3980G>A (p.Ser1327Asn)
c.3977G>A (p.Ser1326Asn)
c.3896G>A (p.Ser1299Asn)
c.3827G>A (p.Ser1276Asn)
c.3695G>A (p.Ser1232Asn)
c.3563G>A (p.Ser1188Asn)
20g.32436428G>CCA408563648ASXL1c.3716G>C (p.Ser1239Thr)
c.3533G>C (p.Ser1178Thr)
n.6069G>C
c.1869+1847G>C (n.1869+1847G>C)
c.3701G>C (p.Ser1234Thr)
c.3713G>C (p.Ser1238Thr)
c.3686G>C (p.Ser1229Thr)
c.3632G>C (p.Ser1211Thr)
c.3032G>C (p.Ser1011Thr)
c.3980G>C (p.Ser1327Thr)
c.3977G>C (p.Ser1326Thr)
c.3896G>C (p.Ser1299Thr)
c.3827G>C (p.Ser1276Thr)
c.3695G>C (p.Ser1232Thr)
c.3563G>C (p.Ser1188Thr)
20g.32436428G>TCA408563649ASXL1c.3716G>T (p.Ser1239Ile)
c.3533G>T (p.Ser1178Ile)
n.6069G>T
c.1869+1847G>T (n.1869+1847G>T)
c.3701G>T (p.Ser1234Ile)
c.3713G>T (p.Ser1238Ile)
c.3686G>T (p.Ser1229Ile)
c.3632G>T (p.Ser1211Ile)
c.3032G>T (p.Ser1011Ile)
c.3980G>T (p.Ser1327Ile)
c.3977G>T (p.Ser1326Ile)
c.3896G>T (p.Ser1299Ile)
c.3827G>T (p.Ser1276Ile)
c.3695G>T (p.Ser1232Ile)
c.3563G>T (p.Ser1188Ile)
20g.32436429T>ACA408563650ASXL1c.3717T>A (p.Ser1239Arg)
c.3534T>A (p.Ser1178Arg)
n.6070T>A
c.1869+1848T>A (n.1869+1848T>A)
c.3702T>A (p.Ser1234Arg)
c.3714T>A (p.Ser1238Arg)
c.3687T>A (p.Ser1229Arg)
c.3633T>A (p.Ser1211Arg)
c.3033T>A (p.Ser1011Arg)
c.3981T>A (p.Ser1327Arg)
c.3978T>A (p.Ser1326Arg)
c.3897T>A (p.Ser1299Arg)
c.3828T>A (p.Ser1276Arg)
c.3696T>A (p.Ser1232Arg)
c.3564T>A (p.Ser1188Arg)
20g.32436429T>CCA510467592ASXL1c.3717T>C (p.Ser1239=)
c.3534T>C (p.Ser1178=)
n.6070T>C
c.1869+1848T>C (n.1869+1848T>C)
c.3702T>C (p.Ser1234=)
c.3714T>C (p.Ser1238=)
c.3687T>C (p.Ser1229=)
c.3633T>C (p.Ser1211=)
c.3033T>C (p.Ser1011=)
c.3981T>C (p.Ser1327=)
c.3978T>C (p.Ser1326=)
c.3897T>C (p.Ser1299=)
c.3828T>C (p.Ser1276=)
c.3696T>C (p.Ser1232=)
c.3564T>C (p.Ser1188=)
 dbSNP
20g.32436429T>GCA408563651ASXL1c.3717T>G (p.Ser1239Arg)
c.3534T>G (p.Ser1178Arg)
n.6070T>G
c.1869+1848T>G (n.1869+1848T>G)
c.3702T>G (p.Ser1234Arg)
c.3714T>G (p.Ser1238Arg)
c.3687T>G (p.Ser1229Arg)
c.3633T>G (p.Ser1211Arg)
c.3033T>G (p.Ser1011Arg)
c.3981T>G (p.Ser1327Arg)
c.3978T>G (p.Ser1326Arg)
c.3897T>G (p.Ser1299Arg)
c.3828T>G (p.Ser1276Arg)
c.3696T>G (p.Ser1232Arg)
c.3564T>G (p.Ser1188Arg)
20g.32436430T>ACA408563653ASXL1c.3718T>A (p.Cys1240Ser)
c.3535T>A (p.Cys1179Ser)
n.6071T>A
c.1869+1849T>A (n.1869+1849T>A)
c.3703T>A (p.Cys1235Ser)
c.3715T>A (p.Cys1239Ser)
c.3688T>A (p.Cys1230Ser)
c.3634T>A (p.Cys1212Ser)
c.3034T>A (p.Cys1012Ser)
c.3982T>A (p.Cys1328Ser)
c.3979T>A (p.Cys1327Ser)
c.3898T>A (p.Cys1300Ser)
c.3829T>A (p.Cys1277Ser)
c.3697T>A (p.Cys1233Ser)
c.3565T>A (p.Cys1189Ser)
20g.32436430T>CCA9808885ASXL1c.3718T>C (p.Cys1240Arg)
c.3535T>C (p.Cys1179Arg)
n.6071T>C
c.1869+1849T>C (n.1869+1849T>C)
c.3703T>C (p.Cys1235Arg)
c.3715T>C (p.Cys1239Arg)
c.3688T>C (p.Cys1230Arg)
c.3634T>C (p.Cys1212Arg)
c.3034T>C (p.Cys1012Arg)
c.3982T>C (p.Cys1328Arg)
c.3979T>C (p.Cys1327Arg)
c.3898T>C (p.Cys1300Arg)
c.3829T>C (p.Cys1277Arg)
c.3697T>C (p.Cys1233Arg)
c.3565T>C (p.Cys1189Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436430T>GCA408563652ASXL1c.3718T>G (p.Cys1240Gly)
c.3535T>G (p.Cys1179Gly)
n.6071T>G
c.1869+1849T>G (n.1869+1849T>G)
c.3703T>G (p.Cys1235Gly)
c.3715T>G (p.Cys1239Gly)
c.3688T>G (p.Cys1230Gly)
c.3634T>G (p.Cys1212Gly)
c.3034T>G (p.Cys1012Gly)
c.3982T>G (p.Cys1328Gly)
c.3979T>G (p.Cys1327Gly)
c.3898T>G (p.Cys1300Gly)
c.3829T>G (p.Cys1277Gly)
c.3697T>G (p.Cys1233Gly)
c.3565T>G (p.Cys1189Gly)
20g.32436430T=CA2360293697ASXL1c.3718T= (p.Cys1240=)
c.3535T= (p.Cys1179=)
n.6071T=
c.1869+1849T= (n.1869+1849T=)
c.3703T= (p.Cys1235=)
c.3715T= (p.Cys1239=)
c.3688T= (p.Cys1230=)
c.3634T= (p.Cys1212=)
c.3034T= (p.Cys1012=)
c.3982T= (p.Cys1328=)
c.3979T= (p.Cys1327=)
c.3898T= (p.Cys1300=)
c.3829T= (p.Cys1277=)
c.3697T= (p.Cys1233=)
c.3565T= (p.Cys1189=)
20g.32436431G>ACA408563654ASXL1c.3719G>A (p.Cys1240Tyr)
c.3536G>A (p.Cys1179Tyr)
n.6072G>A
c.1869+1850G>A (n.1869+1850G>A)
c.3704G>A (p.Cys1235Tyr)
c.3716G>A (p.Cys1239Tyr)
c.3689G>A (p.Cys1230Tyr)
c.3635G>A (p.Cys1212Tyr)
c.3035G>A (p.Cys1012Tyr)
c.3983G>A (p.Cys1328Tyr)
c.3980G>A (p.Cys1327Tyr)
c.3899G>A (p.Cys1300Tyr)
c.3830G>A (p.Cys1277Tyr)
c.3698G>A (p.Cys1233Tyr)
c.3566G>A (p.Cys1189Tyr)
 dbSNP
20g.32436431G>CCA408563655ASXL1c.3719G>C (p.Cys1240Ser)
c.3536G>C (p.Cys1179Ser)
n.6072G>C
c.1869+1850G>C (n.1869+1850G>C)
c.3704G>C (p.Cys1235Ser)
c.3716G>C (p.Cys1239Ser)
c.3689G>C (p.Cys1230Ser)
c.3635G>C (p.Cys1212Ser)
c.3035G>C (p.Cys1012Ser)
c.3983G>C (p.Cys1328Ser)
c.3980G>C (p.Cys1327Ser)
c.3899G>C (p.Cys1300Ser)
c.3830G>C (p.Cys1277Ser)
c.3698G>C (p.Cys1233Ser)
c.3566G>C (p.Cys1189Ser)
20g.32436431G>TCA408563656ASXL1c.3719G>T (p.Cys1240Phe)
c.3536G>T (p.Cys1179Phe)
n.6072G>T
c.1869+1850G>T (n.1869+1850G>T)
c.3704G>T (p.Cys1235Phe)
c.3716G>T (p.Cys1239Phe)
c.3689G>T (p.Cys1230Phe)
c.3635G>T (p.Cys1212Phe)
c.3035G>T (p.Cys1012Phe)
c.3983G>T (p.Cys1328Phe)
c.3980G>T (p.Cys1327Phe)
c.3899G>T (p.Cys1300Phe)
c.3830G>T (p.Cys1277Phe)
c.3698G>T (p.Cys1233Phe)
c.3566G>T (p.Cys1189Phe)
20g.32436432T>ACA408563657ASXL1c.3720T>A (p.Cys1240Ter)
c.3537T>A (p.Cys1179Ter)
n.6073T>A
c.1869+1851T>A (n.1869+1851T>A)
c.3705T>A (p.Cys1235Ter)
c.3717T>A (p.Cys1239Ter)
c.3690T>A (p.Cys1230Ter)
c.3636T>A (p.Cys1212Ter)
c.3036T>A (p.Cys1012Ter)
c.3984T>A (p.Cys1328Ter)
c.3981T>A (p.Cys1327Ter)
c.3900T>A (p.Cys1300Ter)
c.3831T>A (p.Cys1277Ter)
c.3699T>A (p.Cys1233Ter)
c.3567T>A (p.Cys1189Ter)
20g.32436432T>CCA9808886ASXL1c.3720T>C (p.Cys1240=)
c.3537T>C (p.Cys1179=)
n.6073T>C
c.1869+1851T>C (n.1869+1851T>C)
c.3705T>C (p.Cys1235=)
c.3717T>C (p.Cys1239=)
c.3690T>C (p.Cys1230=)
c.3636T>C (p.Cys1212=)
c.3036T>C (p.Cys1012=)
c.3984T>C (p.Cys1328=)
c.3981T>C (p.Cys1327=)
c.3900T>C (p.Cys1300=)
c.3831T>C (p.Cys1277=)
c.3699T>C (p.Cys1233=)
c.3567T>C (p.Cys1189=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436432T>GCA408563658ASXL1c.3720T>G (p.Cys1240Trp)
c.3537T>G (p.Cys1179Trp)
n.6073T>G
c.1869+1851T>G (n.1869+1851T>G)
c.3705T>G (p.Cys1235Trp)
c.3717T>G (p.Cys1239Trp)
c.3690T>G (p.Cys1230Trp)
c.3636T>G (p.Cys1212Trp)
c.3036T>G (p.Cys1012Trp)
c.3984T>G (p.Cys1328Trp)
c.3981T>G (p.Cys1327Trp)
c.3900T>G (p.Cys1300Trp)
c.3831T>G (p.Cys1277Trp)
c.3699T>G (p.Cys1233Trp)
c.3567T>G (p.Cys1189Trp)
20g.32436432T=CA2360293698ASXL1c.3720T= (p.Cys1240=)
c.3537T= (p.Cys1179=)
n.6073T=
c.1869+1851T= (n.1869+1851T=)
c.3705T= (p.Cys1235=)
c.3717T= (p.Cys1239=)
c.3690T= (p.Cys1230=)
c.3636T= (p.Cys1212=)
c.3036T= (p.Cys1012=)
c.3984T= (p.Cys1328=)
c.3981T= (p.Cys1327=)
c.3900T= (p.Cys1300=)
c.3831T= (p.Cys1277=)
c.3699T= (p.Cys1233=)
c.3567T= (p.Cys1189=)
20g.32436433G>ACA313926356ASXL1c.3721G>A (p.Glu1241Lys)
c.3538G>A (p.Glu1180Lys)
n.6074G>A
c.1869+1852G>A (n.1869+1852G>A)
c.3706G>A (p.Glu1236Lys)
c.3718G>A (p.Glu1240Lys)
c.3691G>A (p.Glu1231Lys)
c.3637G>A (p.Glu1213Lys)
c.3037G>A (p.Glu1013Lys)
c.3985G>A (p.Glu1329Lys)
c.3982G>A (p.Glu1328Lys)
c.3901G>A (p.Glu1301Lys)
c.3832G>A (p.Glu1278Lys)
c.3700G>A (p.Glu1234Lys)
c.3568G>A (p.Glu1190Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32436433G>CCA408563659ASXL1c.3721G>C (p.Glu1241Gln)
c.3538G>C (p.Glu1180Gln)
n.6074G>C
c.1869+1852G>C (n.1869+1852G>C)
c.3706G>C (p.Glu1236Gln)
c.3718G>C (p.Glu1240Gln)
c.3691G>C (p.Glu1231Gln)
c.3637G>C (p.Glu1213Gln)
c.3037G>C (p.Glu1013Gln)
c.3985G>C (p.Glu1329Gln)
c.3982G>C (p.Glu1328Gln)
c.3901G>C (p.Glu1301Gln)
c.3832G>C (p.Glu1278Gln)
c.3700G>C (p.Glu1234Gln)
c.3568G>C (p.Glu1190Gln)
20g.32436433G=CA2360293699ASXL1c.3721G= (p.Glu1241=)
c.3538G= (p.Glu1180=)
n.6074G=
c.1869+1852G= (n.1869+1852G=)
c.3706G= (p.Glu1236=)
c.3718G= (p.Glu1240=)
c.3691G= (p.Glu1231=)
c.3637G= (p.Glu1213=)
c.3037G= (p.Glu1013=)
c.3985G= (p.Glu1329=)
c.3982G= (p.Glu1328=)
c.3901G= (p.Glu1301=)
c.3832G= (p.Glu1278=)
c.3700G= (p.Glu1234=)
c.3568G= (p.Glu1190=)
20g.32436433G>TCA408563660ASXL1c.3721G>T (p.Glu1241Ter)
c.3538G>T (p.Glu1180Ter)
n.6074G>T
c.1869+1852G>T (n.1869+1852G>T)
c.3706G>T (p.Glu1236Ter)
c.3718G>T (p.Glu1240Ter)
c.3691G>T (p.Glu1231Ter)
c.3637G>T (p.Glu1213Ter)
c.3037G>T (p.Glu1013Ter)
c.3985G>T (p.Glu1329Ter)
c.3982G>T (p.Glu1328Ter)
c.3901G>T (p.Glu1301Ter)
c.3832G>T (p.Glu1278Ter)
c.3700G>T (p.Glu1234Ter)
c.3568G>T (p.Glu1190Ter)
20g.32436434A>CCA408563661ASXL1c.3722A>C (p.Glu1241Ala)
c.3539A>C (p.Glu1180Ala)
n.6075A>C
c.1869+1853A>C (n.1869+1853A>C)
c.3707A>C (p.Glu1236Ala)
c.3719A>C (p.Glu1240Ala)
c.3692A>C (p.Glu1231Ala)
c.3638A>C (p.Glu1213Ala)
c.3038A>C (p.Glu1013Ala)
c.3986A>C (p.Glu1329Ala)
c.3983A>C (p.Glu1328Ala)
c.3902A>C (p.Glu1301Ala)
c.3833A>C (p.Glu1278Ala)
c.3701A>C (p.Glu1234Ala)
c.3569A>C (p.Glu1190Ala)
20g.32436434A>GCA408563662ASXL1c.3722A>G (p.Glu1241Gly)
c.3539A>G (p.Glu1180Gly)
n.6075A>G
c.1869+1853A>G (n.1869+1853A>G)
c.3707A>G (p.Glu1236Gly)
c.3719A>G (p.Glu1240Gly)
c.3692A>G (p.Glu1231Gly)
c.3638A>G (p.Glu1213Gly)
c.3038A>G (p.Glu1013Gly)
c.3986A>G (p.Glu1329Gly)
c.3983A>G (p.Glu1328Gly)
c.3902A>G (p.Glu1301Gly)
c.3833A>G (p.Glu1278Gly)
c.3701A>G (p.Glu1234Gly)
c.3569A>G (p.Glu1190Gly)
20g.32436434A>TCA408563663ASXL1c.3722A>T (p.Glu1241Val)
c.3539A>T (p.Glu1180Val)
n.6075A>T
c.1869+1853A>T (n.1869+1853A>T)
c.3707A>T (p.Glu1236Val)
c.3719A>T (p.Glu1240Val)
c.3692A>T (p.Glu1231Val)
c.3638A>T (p.Glu1213Val)
c.3038A>T (p.Glu1013Val)
c.3986A>T (p.Glu1329Val)
c.3983A>T (p.Glu1328Val)
c.3902A>T (p.Glu1301Val)
c.3833A>T (p.Glu1278Val)
c.3701A>T (p.Glu1234Val)
c.3569A>T (p.Glu1190Val)
 gnomAD v3 gnomAD v4
20g.32436435A>CCA408563664ASXL1c.3723A>C (p.Glu1241Asp)
c.3540A>C (p.Glu1180Asp)
n.6076A>C
c.1869+1854A>C (n.1869+1854A>C)
c.3708A>C (p.Glu1236Asp)
c.3720A>C (p.Glu1240Asp)
c.3693A>C (p.Glu1231Asp)
c.3639A>C (p.Glu1213Asp)
c.3039A>C (p.Glu1013Asp)
c.3987A>C (p.Glu1329Asp)
c.3984A>C (p.Glu1328Asp)
c.3903A>C (p.Glu1301Asp)
c.3834A>C (p.Glu1278Asp)
c.3702A>C (p.Glu1234Asp)
c.3570A>C (p.Glu1190Asp)
20g.32436435A>GCA510467597ASXL1c.3723A>G (p.Glu1241=)
c.3540A>G (p.Glu1180=)
n.6076A>G
c.1869+1854A>G (n.1869+1854A>G)
c.3708A>G (p.Glu1236=)
c.3720A>G (p.Glu1240=)
c.3693A>G (p.Glu1231=)
c.3639A>G (p.Glu1213=)
c.3039A>G (p.Glu1013=)
c.3987A>G (p.Glu1329=)
c.3984A>G (p.Glu1328=)
c.3903A>G (p.Glu1301=)
c.3834A>G (p.Glu1278=)
c.3702A>G (p.Glu1234=)
c.3570A>G (p.Glu1190=)
20g.32436435A>TCA408563665ASXL1c.3723A>T (p.Glu1241Asp)
c.3540A>T (p.Glu1180Asp)
n.6076A>T
c.1869+1854A>T (n.1869+1854A>T)
c.3708A>T (p.Glu1236Asp)
c.3720A>T (p.Glu1240Asp)
c.3693A>T (p.Glu1231Asp)
c.3639A>T (p.Glu1213Asp)
c.3039A>T (p.Glu1013Asp)
c.3987A>T (p.Glu1329Asp)
c.3984A>T (p.Glu1328Asp)
c.3903A>T (p.Glu1301Asp)
c.3834A>T (p.Glu1278Asp)
c.3702A>T (p.Glu1234Asp)
c.3570A>T (p.Glu1190Asp)
20g.32436436G>ACA408563666ASXL1c.3724G>A (p.Asp1242Asn)
c.3541G>A (p.Asp1181Asn)
n.6077G>A
c.1869+1855G>A (n.1869+1855G>A)
c.3709G>A (p.Asp1237Asn)
c.3721G>A (p.Asp1241Asn)
c.3694G>A (p.Asp1232Asn)
c.3640G>A (p.Asp1214Asn)
c.3040G>A (p.Asp1014Asn)
c.3988G>A (p.Asp1330Asn)
c.3985G>A (p.Asp1329Asn)
c.3904G>A (p.Asp1302Asn)
c.3835G>A (p.Asp1279Asn)
c.3703G>A (p.Asp1235Asn)
c.3571G>A (p.Asp1191Asn)
 dbSNP
20g.32436436G>CCA408563668ASXL1c.3724G>C (p.Asp1242His)
c.3541G>C (p.Asp1181His)
n.6077G>C
c.1869+1855G>C (n.1869+1855G>C)
c.3709G>C (p.Asp1237His)
c.3721G>C (p.Asp1241His)
c.3694G>C (p.Asp1232His)
c.3640G>C (p.Asp1214His)
c.3040G>C (p.Asp1014His)
c.3988G>C (p.Asp1330His)
c.3985G>C (p.Asp1329His)
c.3904G>C (p.Asp1302His)
c.3835G>C (p.Asp1279His)
c.3703G>C (p.Asp1235His)
c.3571G>C (p.Asp1191His)
20g.32436436G=CA2360293700ASXL1c.3724G= (p.Asp1242=)
c.3541G= (p.Asp1181=)
n.6077G=
c.1869+1855G= (n.1869+1855G=)
c.3709G= (p.Asp1237=)
c.3721G= (p.Asp1241=)
c.3694G= (p.Asp1232=)
c.3640G= (p.Asp1214=)
c.3040G= (p.Asp1014=)
c.3988G= (p.Asp1330=)
c.3985G= (p.Asp1329=)
c.3904G= (p.Asp1302=)
c.3835G= (p.Asp1279=)
c.3703G= (p.Asp1235=)
c.3571G= (p.Asp1191=)
20g.32436436G>TCA408563667ASXL1c.3724G>T (p.Asp1242Tyr)
c.3541G>T (p.Asp1181Tyr)
n.6077G>T
c.1869+1855G>T (n.1869+1855G>T)
c.3709G>T (p.Asp1237Tyr)
c.3721G>T (p.Asp1241Tyr)
c.3694G>T (p.Asp1232Tyr)
c.3640G>T (p.Asp1214Tyr)
c.3040G>T (p.Asp1014Tyr)
c.3988G>T (p.Asp1330Tyr)
c.3985G>T (p.Asp1329Tyr)
c.3904G>T (p.Asp1302Tyr)
c.3835G>T (p.Asp1279Tyr)
c.3703G>T (p.Asp1235Tyr)
c.3571G>T (p.Asp1191Tyr)
20g.32436437A=CA2360293701ASXL1c.3725A= (p.Asp1242=)
c.3542A= (p.Asp1181=)
n.6078A=
c.1869+1856A= (n.1869+1856A=)
c.3710A= (p.Asp1237=)
c.3722A= (p.Asp1241=)
c.3695A= (p.Asp1232=)
c.3641A= (p.Asp1214=)
c.3041A= (p.Asp1014=)
c.3989A= (p.Asp1330=)
c.3986A= (p.Asp1329=)
c.3905A= (p.Asp1302=)
c.3836A= (p.Asp1279=)
c.3704A= (p.Asp1235=)
c.3572A= (p.Asp1191=)
20g.32436437A>CCA408563669ASXL1c.3725A>C (p.Asp1242Ala)
c.3542A>C (p.Asp1181Ala)
n.6078A>C
c.1869+1856A>C (n.1869+1856A>C)
c.3710A>C (p.Asp1237Ala)
c.3722A>C (p.Asp1241Ala)
c.3695A>C (p.Asp1232Ala)
c.3641A>C (p.Asp1214Ala)
c.3041A>C (p.Asp1014Ala)
c.3989A>C (p.Asp1330Ala)
c.3986A>C (p.Asp1329Ala)
c.3905A>C (p.Asp1302Ala)
c.3836A>C (p.Asp1279Ala)
c.3704A>C (p.Asp1235Ala)
c.3572A>C (p.Asp1191Ala)
20g.32436437A>GCA408563670ASXL1c.3725A>G (p.Asp1242Gly)
c.3542A>G (p.Asp1181Gly)
n.6078A>G
c.1869+1856A>G (n.1869+1856A>G)
c.3710A>G (p.Asp1237Gly)
c.3722A>G (p.Asp1241Gly)
c.3695A>G (p.Asp1232Gly)
c.3641A>G (p.Asp1214Gly)
c.3041A>G (p.Asp1014Gly)
c.3989A>G (p.Asp1330Gly)
c.3986A>G (p.Asp1329Gly)
c.3905A>G (p.Asp1302Gly)
c.3836A>G (p.Asp1279Gly)
c.3704A>G (p.Asp1235Gly)
c.3572A>G (p.Asp1191Gly)
 ClinVar dbSNP
20g.32436437A>TCA408563671ASXL1c.3725A>T (p.Asp1242Val)
c.3542A>T (p.Asp1181Val)
n.6078A>T
c.1869+1856A>T (n.1869+1856A>T)
c.3710A>T (p.Asp1237Val)
c.3722A>T (p.Asp1241Val)
c.3695A>T (p.Asp1232Val)
c.3641A>T (p.Asp1214Val)
c.3041A>T (p.Asp1014Val)
c.3989A>T (p.Asp1330Val)
c.3986A>T (p.Asp1329Val)
c.3905A>T (p.Asp1302Val)
c.3836A>T (p.Asp1279Val)
c.3704A>T (p.Asp1235Val)
c.3572A>T (p.Asp1191Val)
20g.32436438T>ACA408563672ASXL1c.3726T>A (p.Asp1242Glu)
c.3543T>A (p.Asp1181Glu)
n.6079T>A
c.1869+1857T>A (n.1869+1857T>A)
c.3711T>A (p.Asp1237Glu)
c.3723T>A (p.Asp1241Glu)
c.3696T>A (p.Asp1232Glu)
c.3642T>A (p.Asp1214Glu)
c.3042T>A (p.Asp1014Glu)
c.3990T>A (p.Asp1330Glu)
c.3987T>A (p.Asp1329Glu)
c.3906T>A (p.Asp1302Glu)
c.3837T>A (p.Asp1279Glu)
c.3705T>A (p.Asp1235Glu)
c.3573T>A (p.Asp1191Glu)
20g.32436438T>CCA510467599ASXL1c.3726T>C (p.Asp1242=)
c.3543T>C (p.Asp1181=)
n.6079T>C
c.1869+1857T>C (n.1869+1857T>C)
c.3711T>C (p.Asp1237=)
c.3723T>C (p.Asp1241=)
c.3696T>C (p.Asp1232=)
c.3642T>C (p.Asp1214=)
c.3042T>C (p.Asp1014=)
c.3990T>C (p.Asp1330=)
c.3987T>C (p.Asp1329=)
c.3906T>C (p.Asp1302=)
c.3837T>C (p.Asp1279=)
c.3705T>C (p.Asp1235=)
c.3573T>C (p.Asp1191=)
20g.32436438T>GCA408563673ASXL1c.3726T>G (p.Asp1242Glu)
c.3543T>G (p.Asp1181Glu)
n.6079T>G
c.1869+1857T>G (n.1869+1857T>G)
c.3711T>G (p.Asp1237Glu)
c.3723T>G (p.Asp1241Glu)
c.3696T>G (p.Asp1232Glu)
c.3642T>G (p.Asp1214Glu)
c.3042T>G (p.Asp1014Glu)
c.3990T>G (p.Asp1330Glu)
c.3987T>G (p.Asp1329Glu)
c.3906T>G (p.Asp1302Glu)
c.3837T>G (p.Asp1279Glu)
c.3705T>G (p.Asp1235Glu)
c.3573T>G (p.Asp1191Glu)
20g.32436439C>ACA408563674ASXL1c.3727C>A (p.Gln1243Lys)
c.3544C>A (p.Gln1182Lys)
n.6080C>A
c.1869+1858C>A (n.1869+1858C>A)
c.3712C>A (p.Gln1238Lys)
c.3724C>A (p.Gln1242Lys)
c.3697C>A (p.Gln1233Lys)
c.3643C>A (p.Gln1215Lys)
c.3043C>A (p.Gln1015Lys)
c.3991C>A (p.Gln1331Lys)
c.3988C>A (p.Gln1330Lys)
c.3907C>A (p.Gln1303Lys)
c.3838C>A (p.Gln1280Lys)
c.3706C>A (p.Gln1236Lys)
c.3574C>A (p.Gln1192Lys)
20g.32436439C>GCA408563675ASXL1c.3727C>G (p.Gln1243Glu)
c.3544C>G (p.Gln1182Glu)
n.6080C>G
c.1869+1858C>G (n.1869+1858C>G)
c.3712C>G (p.Gln1238Glu)
c.3724C>G (p.Gln1242Glu)
c.3697C>G (p.Gln1233Glu)
c.3643C>G (p.Gln1215Glu)
c.3043C>G (p.Gln1015Glu)
c.3991C>G (p.Gln1331Glu)
c.3988C>G (p.Gln1330Glu)
c.3907C>G (p.Gln1303Glu)
c.3838C>G (p.Gln1280Glu)
c.3706C>G (p.Gln1236Glu)
c.3574C>G (p.Gln1192Glu)
20g.32436439C>TCA408563676ASXL1c.3727C>T (p.Gln1243Ter)
c.3544C>T (p.Gln1182Ter)
n.6080C>T
c.1869+1858C>T (n.1869+1858C>T)
c.3712C>T (p.Gln1238Ter)
c.3724C>T (p.Gln1242Ter)
c.3697C>T (p.Gln1233Ter)
c.3643C>T (p.Gln1215Ter)
c.3043C>T (p.Gln1015Ter)
c.3991C>T (p.Gln1331Ter)
c.3988C>T (p.Gln1330Ter)
c.3907C>T (p.Gln1303Ter)
c.3838C>T (p.Gln1280Ter)
c.3706C>T (p.Gln1236Ter)
c.3574C>T (p.Gln1192Ter)
20g.32436440A>CCA408563677ASXL1c.3728A>C (p.Gln1243Pro)
c.3545A>C (p.Gln1182Pro)
n.6081A>C
c.1869+1859A>C (n.1869+1859A>C)
c.3713A>C (p.Gln1238Pro)
c.3725A>C (p.Gln1242Pro)
c.3698A>C (p.Gln1233Pro)
c.3644A>C (p.Gln1215Pro)
c.3044A>C (p.Gln1015Pro)
c.3992A>C (p.Gln1331Pro)
c.3989A>C (p.Gln1330Pro)
c.3908A>C (p.Gln1303Pro)
c.3839A>C (p.Gln1280Pro)
c.3707A>C (p.Gln1236Pro)
c.3575A>C (p.Gln1192Pro)
20g.32436440A>GCA408563678ASXL1c.3728A>G (p.Gln1243Arg)
c.3545A>G (p.Gln1182Arg)
n.6081A>G
c.1869+1859A>G (n.1869+1859A>G)
c.3713A>G (p.Gln1238Arg)
c.3725A>G (p.Gln1242Arg)
c.3698A>G (p.Gln1233Arg)
c.3644A>G (p.Gln1215Arg)
c.3044A>G (p.Gln1015Arg)
c.3992A>G (p.Gln1331Arg)
c.3989A>G (p.Gln1330Arg)
c.3908A>G (p.Gln1303Arg)
c.3839A>G (p.Gln1280Arg)
c.3707A>G (p.Gln1236Arg)
c.3575A>G (p.Gln1192Arg)
20g.32436440A>TCA408563679ASXL1c.3728A>T (p.Gln1243Leu)
c.3545A>T (p.Gln1182Leu)
n.6081A>T
c.1869+1859A>T (n.1869+1859A>T)
c.3713A>T (p.Gln1238Leu)
c.3725A>T (p.Gln1242Leu)
c.3698A>T (p.Gln1233Leu)
c.3644A>T (p.Gln1215Leu)
c.3044A>T (p.Gln1015Leu)
c.3992A>T (p.Gln1331Leu)
c.3989A>T (p.Gln1330Leu)
c.3908A>T (p.Gln1303Leu)
c.3839A>T (p.Gln1280Leu)
c.3707A>T (p.Gln1236Leu)
c.3575A>T (p.Gln1192Leu)
20g.32436440_32436448delCA2564321228ASXL1c.3728_3736del (p.Gln1243_Val1246delinsLeu)
c.3545_3553del (p.Gln1182_Val1185delinsLeu)
n.6081_6089del
c.1869+1859_1869+1867del (n.1869+1859_1869+1867del)
c.3713_3721del (p.Gln1238_Val1241delinsLeu)
c.3725_3733del (p.Gln1242_Val1245delinsLeu)
c.3698_3706del (p.Gln1233_Val1236delinsLeu)
c.3644_3652del (p.Gln1215_Val1218delinsLeu)
c.3044_3052del (p.Gln1015_Val1018delinsLeu)
c.3992_4000del (p.Gln1331_Val1334delinsLeu)
c.3989_3997del (p.Gln1330_Val1333delinsLeu)
c.3908_3916del (p.Gln1303_Val1306delinsLeu)
c.3839_3847del (p.Gln1280_Val1283delinsLeu)
c.3707_3715del (p.Gln1236_Val1239delinsLeu)
c.3575_3583del (p.Gln1192_Val1195delinsLeu)
20g.32436441G>ACA510467603ASXL1c.3729G>A (p.Gln1243=)
c.3546G>A (p.Gln1182=)
n.6082G>A
c.1869+1860G>A (n.1869+1860G>A)
c.3714G>A (p.Gln1238=)
c.3726G>A (p.Gln1242=)
c.3699G>A (p.Gln1233=)
c.3645G>A (p.Gln1215=)
c.3045G>A (p.Gln1015=)
c.3993G>A (p.Gln1331=)
c.3990G>A (p.Gln1330=)
c.3909G>A (p.Gln1303=)
c.3840G>A (p.Gln1280=)
c.3708G>A (p.Gln1236=)
c.3576G>A (p.Gln1192=)
20g.32436441G>CCA408563681ASXL1c.3729G>C (p.Gln1243His)
c.3546G>C (p.Gln1182His)
n.6082G>C
c.1869+1860G>C (n.1869+1860G>C)
c.3714G>C (p.Gln1238His)
c.3726G>C (p.Gln1242His)
c.3699G>C (p.Gln1233His)
c.3645G>C (p.Gln1215His)
c.3045G>C (p.Gln1015His)
c.3993G>C (p.Gln1331His)
c.3990G>C (p.Gln1330His)
c.3909G>C (p.Gln1303His)
c.3840G>C (p.Gln1280His)
c.3708G>C (p.Gln1236His)
c.3576G>C (p.Gln1192His)
 gnomAD v4
20g.32436441G>TCA408563680ASXL1c.3729G>T (p.Gln1243His)
c.3546G>T (p.Gln1182His)
n.6082G>T
c.1869+1860G>T (n.1869+1860G>T)
c.3714G>T (p.Gln1238His)
c.3726G>T (p.Gln1242His)
c.3699G>T (p.Gln1233His)
c.3645G>T (p.Gln1215His)
c.3045G>T (p.Gln1015His)
c.3993G>T (p.Gln1331His)
c.3990G>T (p.Gln1330His)
c.3909G>T (p.Gln1303His)
c.3840G>T (p.Gln1280His)
c.3708G>T (p.Gln1236His)
c.3576G>T (p.Gln1192His)
 gnomAD v4
20g.32436442A=CA2360293702ASXL1c.3730A= (p.Lys1244=)
c.3547A= (p.Lys1183=)
n.6083A=
c.1869+1861A= (n.1869+1861A=)
c.3715A= (p.Lys1239=)
c.3727A= (p.Lys1243=)
c.3700A= (p.Lys1234=)
c.3646A= (p.Lys1216=)
c.3046A= (p.Lys1016=)
c.3994A= (p.Lys1332=)
c.3991A= (p.Lys1331=)
c.3910A= (p.Lys1304=)
c.3841A= (p.Lys1281=)
c.3709A= (p.Lys1237=)
c.3577A= (p.Lys1193=)
20g.32436442A>CCA408563682ASXL1c.3730A>C (p.Lys1244Gln)
c.3547A>C (p.Lys1183Gln)
n.6083A>C
c.1869+1861A>C (n.1869+1861A>C)
c.3715A>C (p.Lys1239Gln)
c.3727A>C (p.Lys1243Gln)
c.3700A>C (p.Lys1234Gln)
c.3646A>C (p.Lys1216Gln)
c.3046A>C (p.Lys1016Gln)
c.3994A>C (p.Lys1332Gln)
c.3991A>C (p.Lys1331Gln)
c.3910A>C (p.Lys1304Gln)
c.3841A>C (p.Lys1281Gln)
c.3709A>C (p.Lys1237Gln)
c.3577A>C (p.Lys1193Gln)
20g.32436442A>GCA9808887ASXL1c.3730A>G (p.Lys1244Glu)
c.3547A>G (p.Lys1183Glu)
n.6083A>G
c.1869+1861A>G (n.1869+1861A>G)
c.3715A>G (p.Lys1239Glu)
c.3727A>G (p.Lys1243Glu)
c.3700A>G (p.Lys1234Glu)
c.3646A>G (p.Lys1216Glu)
c.3046A>G (p.Lys1016Glu)
c.3994A>G (p.Lys1332Glu)
c.3991A>G (p.Lys1331Glu)
c.3910A>G (p.Lys1304Glu)
c.3841A>G (p.Lys1281Glu)
c.3709A>G (p.Lys1237Glu)
c.3577A>G (p.Lys1193Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436442A>TCA408563683ASXL1c.3730A>T (p.Lys1244Ter)
c.3547A>T (p.Lys1183Ter)
n.6083A>T
c.1869+1861A>T (n.1869+1861A>T)
c.3715A>T (p.Lys1239Ter)
c.3727A>T (p.Lys1243Ter)
c.3700A>T (p.Lys1234Ter)
c.3646A>T (p.Lys1216Ter)
c.3046A>T (p.Lys1016Ter)
c.3994A>T (p.Lys1332Ter)
c.3991A>T (p.Lys1331Ter)
c.3910A>T (p.Lys1304Ter)
c.3841A>T (p.Lys1281Ter)
c.3709A>T (p.Lys1237Ter)
c.3577A>T (p.Lys1193Ter)
20g.32436443A>CCA408563684ASXL1c.3731A>C (p.Lys1244Thr)
c.3548A>C (p.Lys1183Thr)
n.6084A>C
c.1869+1862A>C (n.1869+1862A>C)
c.3716A>C (p.Lys1239Thr)
c.3728A>C (p.Lys1243Thr)
c.3701A>C (p.Lys1234Thr)
c.3647A>C (p.Lys1216Thr)
c.3047A>C (p.Lys1016Thr)
c.3995A>C (p.Lys1332Thr)
c.3992A>C (p.Lys1331Thr)
c.3911A>C (p.Lys1304Thr)
c.3842A>C (p.Lys1281Thr)
c.3710A>C (p.Lys1237Thr)
c.3578A>C (p.Lys1193Thr)
20g.32436443A>GCA408563685ASXL1c.3731A>G (p.Lys1244Arg)
c.3548A>G (p.Lys1183Arg)
n.6084A>G
c.1869+1862A>G (n.1869+1862A>G)
c.3716A>G (p.Lys1239Arg)
c.3728A>G (p.Lys1243Arg)
c.3701A>G (p.Lys1234Arg)
c.3647A>G (p.Lys1216Arg)
c.3047A>G (p.Lys1016Arg)
c.3995A>G (p.Lys1332Arg)
c.3992A>G (p.Lys1331Arg)
c.3911A>G (p.Lys1304Arg)
c.3842A>G (p.Lys1281Arg)
c.3710A>G (p.Lys1237Arg)
c.3578A>G (p.Lys1193Arg)
20g.32436443A>TCA408563686ASXL1c.3731A>T (p.Lys1244Met)
c.3548A>T (p.Lys1183Met)
n.6084A>T
c.1869+1862A>T (n.1869+1862A>T)
c.3716A>T (p.Lys1239Met)
c.3728A>T (p.Lys1243Met)
c.3701A>T (p.Lys1234Met)
c.3647A>T (p.Lys1216Met)
c.3047A>T (p.Lys1016Met)
c.3995A>T (p.Lys1332Met)
c.3992A>T (p.Lys1331Met)
c.3911A>T (p.Lys1304Met)
c.3842A>T (p.Lys1281Met)
c.3710A>T (p.Lys1237Met)
c.3578A>T (p.Lys1193Met)
20g.32436444G>ACA313926357ASXL1c.3732G>A (p.Lys1244=)
c.3549G>A (p.Lys1183=)
n.6085G>A
c.1869+1863G>A (n.1869+1863G>A)
c.3717G>A (p.Lys1239=)
c.3729G>A (p.Lys1243=)
c.3702G>A (p.Lys1234=)
c.3648G>A (p.Lys1216=)
c.3048G>A (p.Lys1016=)
c.3996G>A (p.Lys1332=)
c.3993G>A (p.Lys1331=)
c.3912G>A (p.Lys1304=)
c.3843G>A (p.Lys1281=)
c.3711G>A (p.Lys1237=)
c.3579G>A (p.Lys1193=)
 dbSNP gnomAD v4
20g.32436444G>CCA408563687ASXL1c.3732G>C (p.Lys1244Asn)
c.3549G>C (p.Lys1183Asn)
n.6085G>C
c.1869+1863G>C (n.1869+1863G>C)
c.3717G>C (p.Lys1239Asn)
c.3729G>C (p.Lys1243Asn)
c.3702G>C (p.Lys1234Asn)
c.3648G>C (p.Lys1216Asn)
c.3048G>C (p.Lys1016Asn)
c.3996G>C (p.Lys1332Asn)
c.3993G>C (p.Lys1331Asn)
c.3912G>C (p.Lys1304Asn)
c.3843G>C (p.Lys1281Asn)
c.3711G>C (p.Lys1237Asn)
c.3579G>C (p.Lys1193Asn)
20g.32436444G=CA2360293703ASXL1c.3732G= (p.Lys1244=)
c.3549G= (p.Lys1183=)
n.6085G=
c.1869+1863G= (n.1869+1863G=)
c.3717G= (p.Lys1239=)
c.3729G= (p.Lys1243=)
c.3702G= (p.Lys1234=)
c.3648G= (p.Lys1216=)
c.3048G= (p.Lys1016=)
c.3996G= (p.Lys1332=)
c.3993G= (p.Lys1331=)
c.3912G= (p.Lys1304=)
c.3843G= (p.Lys1281=)
c.3711G= (p.Lys1237=)
c.3579G= (p.Lys1193=)
20g.32436444G>TCA408563688ASXL1c.3732G>T (p.Lys1244Asn)
c.3549G>T (p.Lys1183Asn)
n.6085G>T
c.1869+1863G>T (n.1869+1863G>T)
c.3717G>T (p.Lys1239Asn)
c.3729G>T (p.Lys1243Asn)
c.3702G>T (p.Lys1234Asn)
c.3648G>T (p.Lys1216Asn)
c.3048G>T (p.Lys1016Asn)
c.3996G>T (p.Lys1332Asn)
c.3993G>T (p.Lys1331Asn)
c.3912G>T (p.Lys1304Asn)
c.3843G>T (p.Lys1281Asn)
c.3711G>T (p.Lys1237Asn)
c.3579G>T (p.Lys1193Asn)
20g.32436445G>ACA408563689ASXL1c.3733G>A (p.Glu1245Lys)
c.3550G>A (p.Glu1184Lys)
n.6086G>A
c.1869+1864G>A (n.1869+1864G>A)
c.3718G>A (p.Glu1240Lys)
c.3730G>A (p.Glu1244Lys)
c.3703G>A (p.Glu1235Lys)
c.3649G>A (p.Glu1217Lys)
c.3049G>A (p.Glu1017Lys)
c.3997G>A (p.Glu1333Lys)
c.3994G>A (p.Glu1332Lys)
c.3913G>A (p.Glu1305Lys)
c.3844G>A (p.Glu1282Lys)
c.3712G>A (p.Glu1238Lys)
c.3580G>A (p.Glu1194Lys)
20g.32436445G>CCA408563690ASXL1c.3733G>C (p.Glu1245Gln)
c.3550G>C (p.Glu1184Gln)
n.6086G>C
c.1869+1864G>C (n.1869+1864G>C)
c.3718G>C (p.Glu1240Gln)
c.3730G>C (p.Glu1244Gln)
c.3703G>C (p.Glu1235Gln)
c.3649G>C (p.Glu1217Gln)
c.3049G>C (p.Glu1017Gln)
c.3997G>C (p.Glu1333Gln)
c.3994G>C (p.Glu1332Gln)
c.3913G>C (p.Glu1305Gln)
c.3844G>C (p.Glu1282Gln)
c.3712G>C (p.Glu1238Gln)
c.3580G>C (p.Glu1194Gln)
 dbSNP
20g.32436445G>TCA408563691ASXL1c.3733G>T (p.Glu1245Ter)
c.3550G>T (p.Glu1184Ter)
n.6086G>T
c.1869+1864G>T (n.1869+1864G>T)
c.3718G>T (p.Glu1240Ter)
c.3730G>T (p.Glu1244Ter)
c.3703G>T (p.Glu1235Ter)
c.3649G>T (p.Glu1217Ter)
c.3049G>T (p.Glu1017Ter)
c.3997G>T (p.Glu1333Ter)
c.3994G>T (p.Glu1332Ter)
c.3913G>T (p.Glu1305Ter)
c.3844G>T (p.Glu1282Ter)
c.3712G>T (p.Glu1238Ter)
c.3580G>T (p.Glu1194Ter)
20g.32436446A>CCA408563692ASXL1c.3734A>C (p.Glu1245Ala)
c.3551A>C (p.Glu1184Ala)
n.6087A>C
c.1869+1865A>C (n.1869+1865A>C)
c.3719A>C (p.Glu1240Ala)
c.3731A>C (p.Glu1244Ala)
c.3704A>C (p.Glu1235Ala)
c.3650A>C (p.Glu1217Ala)
c.3050A>C (p.Glu1017Ala)
c.3998A>C (p.Glu1333Ala)
c.3995A>C (p.Glu1332Ala)
c.3914A>C (p.Glu1305Ala)
c.3845A>C (p.Glu1282Ala)
c.3713A>C (p.Glu1238Ala)
c.3581A>C (p.Glu1194Ala)
20g.32436446A>GCA408563693ASXL1c.3734A>G (p.Glu1245Gly)
c.3551A>G (p.Glu1184Gly)
n.6087A>G
c.1869+1865A>G (n.1869+1865A>G)
c.3719A>G (p.Glu1240Gly)
c.3731A>G (p.Glu1244Gly)
c.3704A>G (p.Glu1235Gly)
c.3650A>G (p.Glu1217Gly)
c.3050A>G (p.Glu1017Gly)
c.3998A>G (p.Glu1333Gly)
c.3995A>G (p.Glu1332Gly)
c.3914A>G (p.Glu1305Gly)
c.3845A>G (p.Glu1282Gly)
c.3713A>G (p.Glu1238Gly)
c.3581A>G (p.Glu1194Gly)
20g.32436446A>TCA408563694ASXL1c.3734A>T (p.Glu1245Val)
c.3551A>T (p.Glu1184Val)
n.6087A>T
c.1869+1865A>T (n.1869+1865A>T)
c.3719A>T (p.Glu1240Val)
c.3731A>T (p.Glu1244Val)
c.3704A>T (p.Glu1235Val)
c.3650A>T (p.Glu1217Val)
c.3050A>T (p.Glu1017Val)
c.3998A>T (p.Glu1333Val)
c.3995A>T (p.Glu1332Val)
c.3914A>T (p.Glu1305Val)
c.3845A>T (p.Glu1282Val)
c.3713A>T (p.Glu1238Val)
c.3581A>T (p.Glu1194Val)
20g.32436447A>CCA408563696ASXL1c.3735A>C (p.Glu1245Asp)
c.3552A>C (p.Glu1184Asp)
n.6088A>C
c.1869+1866A>C (n.1869+1866A>C)
c.3720A>C (p.Glu1240Asp)
c.3732A>C (p.Glu1244Asp)
c.3705A>C (p.Glu1235Asp)
c.3651A>C (p.Glu1217Asp)
c.3051A>C (p.Glu1017Asp)
c.3999A>C (p.Glu1333Asp)
c.3996A>C (p.Glu1332Asp)
c.3915A>C (p.Glu1305Asp)
c.3846A>C (p.Glu1282Asp)
c.3714A>C (p.Glu1238Asp)
c.3582A>C (p.Glu1194Asp)
 gnomAD v4
20g.32436447A>GCA510467607ASXL1c.3735A>G (p.Glu1245=)
c.3552A>G (p.Glu1184=)
n.6088A>G
c.1869+1866A>G (n.1869+1866A>G)
c.3720A>G (p.Glu1240=)
c.3732A>G (p.Glu1244=)
c.3705A>G (p.Glu1235=)
c.3651A>G (p.Glu1217=)
c.3051A>G (p.Glu1017=)
c.3999A>G (p.Glu1333=)
c.3996A>G (p.Glu1332=)
c.3915A>G (p.Glu1305=)
c.3846A>G (p.Glu1282=)
c.3714A>G (p.Glu1238=)
c.3582A>G (p.Glu1194=)
 gnomAD v4
20g.32436447A>TCA408563695ASXL1c.3735A>T (p.Glu1245Asp)
c.3552A>T (p.Glu1184Asp)
n.6088A>T
c.1869+1866A>T (n.1869+1866A>T)
c.3720A>T (p.Glu1240Asp)
c.3732A>T (p.Glu1244Asp)
c.3705A>T (p.Glu1235Asp)
c.3651A>T (p.Glu1217Asp)
c.3051A>T (p.Glu1017Asp)
c.3999A>T (p.Glu1333Asp)
c.3996A>T (p.Glu1332Asp)
c.3915A>T (p.Glu1305Asp)
c.3846A>T (p.Glu1282Asp)
c.3714A>T (p.Glu1238Asp)
c.3582A>T (p.Glu1194Asp)
20g.32436448G>ACA408563697ASXL1c.3736G>A (p.Val1246Ile)
c.3553G>A (p.Val1185Ile)
n.6089G>A
c.1869+1867G>A (n.1869+1867G>A)
c.3721G>A (p.Val1241Ile)
c.3733G>A (p.Val1245Ile)
c.3706G>A (p.Val1236Ile)
c.3652G>A (p.Val1218Ile)
c.3052G>A (p.Val1018Ile)
c.4000G>A (p.Val1334Ile)
c.3997G>A (p.Val1333Ile)
c.3916G>A (p.Val1306Ile)
c.3847G>A (p.Val1283Ile)
c.3715G>A (p.Val1239Ile)
c.3583G>A (p.Val1195Ile)
20g.32436448G>CCA408563698ASXL1c.3736G>C (p.Val1246Leu)
c.3553G>C (p.Val1185Leu)
n.6089G>C
c.1869+1867G>C (n.1869+1867G>C)
c.3721G>C (p.Val1241Leu)
c.3733G>C (p.Val1245Leu)
c.3706G>C (p.Val1236Leu)
c.3652G>C (p.Val1218Leu)
c.3052G>C (p.Val1018Leu)
c.4000G>C (p.Val1334Leu)
c.3997G>C (p.Val1333Leu)
c.3916G>C (p.Val1306Leu)
c.3847G>C (p.Val1283Leu)
c.3715G>C (p.Val1239Leu)
c.3583G>C (p.Val1195Leu)
20g.32436448G>TCA408563699ASXL1c.3736G>T (p.Val1246Phe)
c.3553G>T (p.Val1185Phe)
n.6089G>T
c.1869+1867G>T (n.1869+1867G>T)
c.3721G>T (p.Val1241Phe)
c.3733G>T (p.Val1245Phe)
c.3706G>T (p.Val1236Phe)
c.3652G>T (p.Val1218Phe)
c.3052G>T (p.Val1018Phe)
c.4000G>T (p.Val1334Phe)
c.3997G>T (p.Val1333Phe)
c.3916G>T (p.Val1306Phe)
c.3847G>T (p.Val1283Phe)
c.3715G>T (p.Val1239Phe)
c.3583G>T (p.Val1195Phe)
20g.32436449T>ACA408563700ASXL1c.3737T>A (p.Val1246Asp)
c.3554T>A (p.Val1185Asp)
n.6090T>A
c.1869+1868T>A (n.1869+1868T>A)
c.3722T>A (p.Val1241Asp)
c.3734T>A (p.Val1245Asp)
c.3707T>A (p.Val1236Asp)
c.3653T>A (p.Val1218Asp)
c.3053T>A (p.Val1018Asp)
c.4001T>A (p.Val1334Asp)
c.3998T>A (p.Val1333Asp)
c.3917T>A (p.Val1306Asp)
c.3848T>A (p.Val1283Asp)
c.3716T>A (p.Val1239Asp)
c.3584T>A (p.Val1195Asp)
 COSMIC
20g.32436449T>CCA408563701ASXL1c.3737T>C (p.Val1246Ala)
c.3554T>C (p.Val1185Ala)
n.6090T>C
c.1869+1868T>C (n.1869+1868T>C)
c.3722T>C (p.Val1241Ala)
c.3734T>C (p.Val1245Ala)
c.3707T>C (p.Val1236Ala)
c.3653T>C (p.Val1218Ala)
c.3053T>C (p.Val1018Ala)
c.4001T>C (p.Val1334Ala)
c.3998T>C (p.Val1333Ala)
c.3917T>C (p.Val1306Ala)
c.3848T>C (p.Val1283Ala)
c.3716T>C (p.Val1239Ala)
c.3584T>C (p.Val1195Ala)
20g.32436449T>GCA408563702ASXL1c.3737T>G (p.Val1246Gly)
c.3554T>G (p.Val1185Gly)
n.6090T>G
c.1869+1868T>G (n.1869+1868T>G)
c.3722T>G (p.Val1241Gly)
c.3734T>G (p.Val1245Gly)
c.3707T>G (p.Val1236Gly)
c.3653T>G (p.Val1218Gly)
c.3053T>G (p.Val1018Gly)
c.4001T>G (p.Val1334Gly)
c.3998T>G (p.Val1333Gly)
c.3917T>G (p.Val1306Gly)
c.3848T>G (p.Val1283Gly)
c.3716T>G (p.Val1239Gly)
c.3584T>G (p.Val1195Gly)
20g.32436450C>ACA510467612ASXL1c.3738C>A (p.Val1246=)
c.3555C>A (p.Val1185=)
n.6091C>A
c.1869+1869C>A (n.1869+1869C>A)
c.3723C>A (p.Val1241=)
c.3735C>A (p.Val1245=)
c.3708C>A (p.Val1236=)
c.3654C>A (p.Val1218=)
c.3054C>A (p.Val1018=)
c.4002C>A (p.Val1334=)
c.3999C>A (p.Val1333=)
c.3918C>A (p.Val1306=)
c.3849C>A (p.Val1283=)
c.3717C>A (p.Val1239=)
c.3585C>A (p.Val1195=)
 dbSNP
20g.32436450C=CA2360293704ASXL1c.3738C= (p.Val1246=)
c.3555C= (p.Val1185=)
n.6091C=
c.1869+1869C= (n.1869+1869C=)
c.3723C= (p.Val1241=)
c.3735C= (p.Val1245=)
c.3708C= (p.Val1236=)
c.3654C= (p.Val1218=)
c.3054C= (p.Val1018=)
c.4002C= (p.Val1334=)
c.3999C= (p.Val1333=)
c.3918C= (p.Val1306=)
c.3849C= (p.Val1283=)
c.3717C= (p.Val1239=)
c.3585C= (p.Val1195=)
20g.32436450C>GCA510467613ASXL1c.3738C>G (p.Val1246=)
c.3555C>G (p.Val1185=)
n.6091C>G
c.1869+1869C>G (n.1869+1869C>G)
c.3723C>G (p.Val1241=)
c.3735C>G (p.Val1245=)
c.3708C>G (p.Val1236=)
c.3654C>G (p.Val1218=)
c.3054C>G (p.Val1018=)
c.4002C>G (p.Val1334=)
c.3999C>G (p.Val1333=)
c.3918C>G (p.Val1306=)
c.3849C>G (p.Val1283=)
c.3717C>G (p.Val1239=)
c.3585C>G (p.Val1195=)
 dbSNP gnomAD v2
20g.32436450C>TCA510467614ASXL1c.3738C>T (p.Val1246=)
c.3555C>T (p.Val1185=)
n.6091C>T
c.1869+1869C>T (n.1869+1869C>T)
c.3723C>T (p.Val1241=)
c.3735C>T (p.Val1245=)
c.3708C>T (p.Val1236=)
c.3654C>T (p.Val1218=)
c.3054C>T (p.Val1018=)
c.4002C>T (p.Val1334=)
c.3999C>T (p.Val1333=)
c.3918C>T (p.Val1306=)
c.3849C>T (p.Val1283=)
c.3717C>T (p.Val1239=)
c.3585C>T (p.Val1195=)
 COSMIC COSMIC
20g.32436451C>ACA408563703ASXL1c.3739C>A (p.Arg1247Ser)
c.3556C>A (p.Arg1186Ser)
n.6092C>A
c.1869+1870C>A (n.1869+1870C>A)
c.3724C>A (p.Arg1242Ser)
c.3736C>A (p.Arg1246Ser)
c.3709C>A (p.Arg1237Ser)
c.3655C>A (p.Arg1219Ser)
c.3055C>A (p.Arg1019Ser)
c.4003C>A (p.Arg1335Ser)
c.4000C>A (p.Arg1334Ser)
c.3919C>A (p.Arg1307Ser)
c.3850C>A (p.Arg1284Ser)
c.3718C>A (p.Arg1240Ser)
c.3586C>A (p.Arg1196Ser)
 dbSNP
20g.32436451C=CA2360293705ASXL1c.3739C= (p.Arg1247=)
c.3556C= (p.Arg1186=)
n.6092C=
c.1869+1870C= (n.1869+1870C=)
c.3724C= (p.Arg1242=)
c.3736C= (p.Arg1246=)
c.3709C= (p.Arg1237=)
c.3655C= (p.Arg1219=)
c.3055C= (p.Arg1019=)
c.4003C= (p.Arg1335=)
c.4000C= (p.Arg1334=)
c.3919C= (p.Arg1307=)
c.3850C= (p.Arg1284=)
c.3718C= (p.Arg1240=)
c.3586C= (p.Arg1196=)
20g.32436451C>GCA408563704ASXL1c.3739C>G (p.Arg1247Gly)
c.3556C>G (p.Arg1186Gly)
n.6092C>G
c.1869+1870C>G (n.1869+1870C>G)
c.3724C>G (p.Arg1242Gly)
c.3736C>G (p.Arg1246Gly)
c.3709C>G (p.Arg1237Gly)
c.3655C>G (p.Arg1219Gly)
c.3055C>G (p.Arg1019Gly)
c.4003C>G (p.Arg1335Gly)
c.4000C>G (p.Arg1334Gly)
c.3919C>G (p.Arg1307Gly)
c.3850C>G (p.Arg1284Gly)
c.3718C>G (p.Arg1240Gly)
c.3586C>G (p.Arg1196Gly)
 dbSNP gnomAD v3 gnomAD v4
20g.32436451C>TCA9808888ASXL1c.3739C>T (p.Arg1247Cys)
c.3556C>T (p.Arg1186Cys)
n.6092C>T
c.1869+1870C>T (n.1869+1870C>T)
c.3724C>T (p.Arg1242Cys)
c.3736C>T (p.Arg1246Cys)
c.3709C>T (p.Arg1237Cys)
c.3655C>T (p.Arg1219Cys)
c.3055C>T (p.Arg1019Cys)
c.4003C>T (p.Arg1335Cys)
c.4000C>T (p.Arg1334Cys)
c.3919C>T (p.Arg1307Cys)
c.3850C>T (p.Arg1284Cys)
c.3718C>T (p.Arg1240Cys)
c.3586C>T (p.Arg1196Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32436452G>ACA9808889ASXL1c.3740G>A (p.Arg1247His)
c.3557G>A (p.Arg1186His)
n.6093G>A
c.1869+1871G>A (n.1869+1871G>A)
c.3725G>A (p.Arg1242His)
c.3737G>A (p.Arg1246His)
c.3710G>A (p.Arg1237His)
c.3656G>A (p.Arg1219His)
c.3056G>A (p.Arg1019His)
c.4004G>A (p.Arg1335His)
c.4001G>A (p.Arg1334His)
c.3920G>A (p.Arg1307His)
c.3851G>A (p.Arg1284His)
c.3719G>A (p.Arg1240His)
c.3587G>A (p.Arg1196His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32436452G>CCA408563705ASXL1c.3740G>C (p.Arg1247Pro)
c.3557G>C (p.Arg1186Pro)
n.6093G>C
c.1869+1871G>C (n.1869+1871G>C)
c.3725G>C (p.Arg1242Pro)
c.3737G>C (p.Arg1246Pro)
c.3710G>C (p.Arg1237Pro)
c.3656G>C (p.Arg1219Pro)
c.3056G>C (p.Arg1019Pro)
c.4004G>C (p.Arg1335Pro)
c.4001G>C (p.Arg1334Pro)
c.3920G>C (p.Arg1307Pro)
c.3851G>C (p.Arg1284Pro)
c.3719G>C (p.Arg1240Pro)
c.3587G>C (p.Arg1196Pro)
20g.32436452G=CA2360293706ASXL1c.3740G= (p.Arg1247=)
c.3557G= (p.Arg1186=)
n.6093G=
c.1869+1871G= (n.1869+1871G=)
c.3725G= (p.Arg1242=)
c.3737G= (p.Arg1246=)
c.3710G= (p.Arg1237=)
c.3656G= (p.Arg1219=)
c.3056G= (p.Arg1019=)
c.4004G= (p.Arg1335=)
c.4001G= (p.Arg1334=)
c.3920G= (p.Arg1307=)
c.3851G= (p.Arg1284=)
c.3719G= (p.Arg1240=)
c.3587G= (p.Arg1196=)
20g.32436452G>TCA408563706ASXL1c.3740G>T (p.Arg1247Leu)
c.3557G>T (p.Arg1186Leu)
n.6093G>T
c.1869+1871G>T (n.1869+1871G>T)
c.3725G>T (p.Arg1242Leu)
c.3737G>T (p.Arg1246Leu)
c.3710G>T (p.Arg1237Leu)
c.3656G>T (p.Arg1219Leu)
c.3056G>T (p.Arg1019Leu)
c.4004G>T (p.Arg1335Leu)
c.4001G>T (p.Arg1334Leu)
c.3920G>T (p.Arg1307Leu)
c.3851G>T (p.Arg1284Leu)
c.3719G>T (p.Arg1240Leu)
c.3587G>T (p.Arg1196Leu)
 dbSNP
20g.32436452dupCA2652401239ASXL1c.3740dup (p.Ala1248CysfsTer7)
c.3557dup (p.Ala1187CysfsTer7)
n.6093dup
c.1869+1871dup (n.1869+1871dup)
c.3725dup (p.Ala1243CysfsTer7)
c.3737dup (p.Ala1247CysfsTer7)
c.3710dup (p.Ala1238CysfsTer7)
c.3656dup (p.Ala1220CysfsTer7)
c.3056dup (p.Ala1020CysfsTer7)
c.4004dup (p.Ala1336CysfsTer7)
c.4001dup (p.Ala1335CysfsTer7)
c.3920dup (p.Ala1308CysfsTer7)
c.3851dup (p.Ala1285CysfsTer7)
c.3719dup (p.Ala1241CysfsTer7)
c.3587dup (p.Ala1197CysfsTer7)
 gnomAD v4
20g.32436453T>ACA510467619ASXL1c.3741T>A (p.Arg1247=)
c.3558T>A (p.Arg1186=)
n.6094T>A
c.1869+1872T>A (n.1869+1872T>A)
c.3726T>A (p.Arg1242=)
c.3738T>A (p.Arg1246=)
c.3711T>A (p.Arg1237=)
c.3657T>A (p.Arg1219=)
c.3057T>A (p.Arg1019=)
c.4005T>A (p.Arg1335=)
c.4002T>A (p.Arg1334=)
c.3921T>A (p.Arg1307=)
c.3852T>A (p.Arg1284=)
c.3720T>A (p.Arg1240=)
c.3588T>A (p.Arg1196=)
20g.32436453T>CCA510467620ASXL1c.3741T>C (p.Arg1247=)
c.3558T>C (p.Arg1186=)
n.6094T>C
c.1869+1872T>C (n.1869+1872T>C)
c.3726T>C (p.Arg1242=)
c.3738T>C (p.Arg1246=)
c.3711T>C (p.Arg1237=)
c.3657T>C (p.Arg1219=)
c.3057T>C (p.Arg1019=)
c.4005T>C (p.Arg1335=)
c.4002T>C (p.Arg1334=)
c.3921T>C (p.Arg1307=)
c.3852T>C (p.Arg1284=)
c.3720T>C (p.Arg1240=)
c.3588T>C (p.Arg1196=)
20g.32436453T>GCA510467621ASXL1c.3741T>G (p.Arg1247=)
c.3558T>G (p.Arg1186=)
n.6094T>G
c.1869+1872T>G (n.1869+1872T>G)
c.3726T>G (p.Arg1242=)
c.3738T>G (p.Arg1246=)
c.3711T>G (p.Arg1237=)
c.3657T>G (p.Arg1219=)
c.3057T>G (p.Arg1019=)
c.4005T>G (p.Arg1335=)
c.4002T>G (p.Arg1334=)
c.3921T>G (p.Arg1307=)
c.3852T>G (p.Arg1284=)
c.3720T>G (p.Arg1240=)
c.3588T>G (p.Arg1196=)
 dbSNP gnomAD v3 gnomAD v4
20g.32436453T=CA2360293707ASXL1c.3741T= (p.Arg1247=)
c.3558T= (p.Arg1186=)
n.6094T=
c.1869+1872T= (n.1869+1872T=)
c.3726T= (p.Arg1242=)
c.3738T= (p.Arg1246=)
c.3711T= (p.Arg1237=)
c.3657T= (p.Arg1219=)
c.3057T= (p.Arg1019=)
c.4005T= (p.Arg1335=)
c.4002T= (p.Arg1334=)
c.3921T= (p.Arg1307=)
c.3852T= (p.Arg1284=)
c.3720T= (p.Arg1240=)
c.3588T= (p.Arg1196=)
20g.32436454G>ACA408563708ASXL1c.3742G>A (p.Ala1248Thr)
c.3559G>A (p.Ala1187Thr)
n.6095G>A
c.1869+1873G>A (n.1869+1873G>A)
c.3727G>A (p.Ala1243Thr)
c.3739G>A (p.Ala1247Thr)
c.3712G>A (p.Ala1238Thr)
c.3658G>A (p.Ala1220Thr)
c.3058G>A (p.Ala1020Thr)
c.4006G>A (p.Ala1336Thr)
c.4003G>A (p.Ala1335Thr)
c.3922G>A (p.Ala1308Thr)
c.3853G>A (p.Ala1285Thr)
c.3721G>A (p.Ala1241Thr)
c.3589G>A (p.Ala1197Thr)
 dbSNP gnomAD v3 gnomAD v4
20g.32436454G>CCA408563709ASXL1c.3742G>C (p.Ala1248Pro)
c.3559G>C (p.Ala1187Pro)
n.6095G>C
c.1869+1873G>C (n.1869+1873G>C)
c.3727G>C (p.Ala1243Pro)
c.3739G>C (p.Ala1247Pro)
c.3712G>C (p.Ala1238Pro)
c.3658G>C (p.Ala1220Pro)
c.3058G>C (p.Ala1020Pro)
c.4006G>C (p.Ala1336Pro)
c.4003G>C (p.Ala1335Pro)
c.3922G>C (p.Ala1308Pro)
c.3853G>C (p.Ala1285Pro)
c.3721G>C (p.Ala1241Pro)
c.3589G>C (p.Ala1197Pro)
20g.32436454G=CA2360293708ASXL1c.3742G= (p.Ala1248=)
c.3559G= (p.Ala1187=)
n.6095G=
c.1869+1873G= (n.1869+1873G=)
c.3727G= (p.Ala1243=)
c.3739G= (p.Ala1247=)
c.3712G= (p.Ala1238=)
c.3658G= (p.Ala1220=)
c.3058G= (p.Ala1020=)
c.4006G= (p.Ala1336=)
c.4003G= (p.Ala1335=)
c.3922G= (p.Ala1308=)
c.3853G= (p.Ala1285=)
c.3721G= (p.Ala1241=)
c.3589G= (p.Ala1197=)
20g.32436454G>TCA408563707ASXL1c.3742G>T (p.Ala1248Ser)
c.3559G>T (p.Ala1187Ser)
n.6095G>T
c.1869+1873G>T (n.1869+1873G>T)
c.3727G>T (p.Ala1243Ser)
c.3739G>T (p.Ala1247Ser)
c.3712G>T (p.Ala1238Ser)
c.3658G>T (p.Ala1220Ser)
c.3058G>T (p.Ala1020Ser)
c.4006G>T (p.Ala1336Ser)
c.4003G>T (p.Ala1335Ser)
c.3922G>T (p.Ala1308Ser)
c.3853G>T (p.Ala1285Ser)
c.3721G>T (p.Ala1241Ser)
c.3589G>T (p.Ala1197Ser)
20g.32436455C>ACA408563710ASXL1c.3743C>A (p.Ala1248Asp)
c.3560C>A (p.Ala1187Asp)
n.6096C>A
c.1869+1874C>A (n.1869+1874C>A)
c.3728C>A (p.Ala1243Asp)
c.3740C>A (p.Ala1247Asp)
c.3713C>A (p.Ala1238Asp)
c.3659C>A (p.Ala1220Asp)
c.3059C>A (p.Ala1020Asp)
c.4007C>A (p.Ala1336Asp)
c.4004C>A (p.Ala1335Asp)
c.3923C>A (p.Ala1308Asp)
c.3854C>A (p.Ala1285Asp)
c.3722C>A (p.Ala1241Asp)
c.3590C>A (p.Ala1197Asp)
 dbSNP
20g.32436455C>GCA408563711ASXL1c.3743C>G (p.Ala1248Gly)
c.3560C>G (p.Ala1187Gly)
n.6096C>G
c.1869+1874C>G (n.1869+1874C>G)
c.3728C>G (p.Ala1243Gly)
c.3740C>G (p.Ala1247Gly)
c.3713C>G (p.Ala1238Gly)
c.3659C>G (p.Ala1220Gly)
c.3059C>G (p.Ala1020Gly)
c.4007C>G (p.Ala1336Gly)
c.4004C>G (p.Ala1335Gly)
c.3923C>G (p.Ala1308Gly)
c.3854C>G (p.Ala1285Gly)
c.3722C>G (p.Ala1241Gly)
c.3590C>G (p.Ala1197Gly)
20g.32436455C>TCA408563712ASXL1c.3743C>T (p.Ala1248Val)
c.3560C>T (p.Ala1187Val)
n.6096C>T
c.1869+1874C>T (n.1869+1874C>T)
c.3728C>T (p.Ala1243Val)
c.3740C>T (p.Ala1247Val)
c.3713C>T (p.Ala1238Val)
c.3659C>T (p.Ala1220Val)
c.3059C>T (p.Ala1020Val)
c.4007C>T (p.Ala1336Val)
c.4004C>T (p.Ala1335Val)
c.3923C>T (p.Ala1308Val)
c.3854C>T (p.Ala1285Val)
c.3722C>T (p.Ala1241Val)
c.3590C>T (p.Ala1197Val)
 dbSNP gnomAD v4 COSMIC
20g.32436455_32436458delCA2538161313ASXL1c.3743_3746del (p.Ala1248GlyfsTer?)
c.3560_3563del (p.Ala1187GlyfsTer?)
n.6096_6099del
c.1869+1874_1869+1877del (n.1869+1874_1869+1877del)
c.3728_3731del (p.Ala1243GlyfsTer?)
c.3740_3743del (p.Ala1247GlyfsTer?)
c.3713_3716del (p.Ala1238GlyfsTer?)
c.3659_3662del (p.Ala1220GlyfsTer?)
c.3059_3062del (p.Ala1020GlyfsTer?)
c.4007_4010del (p.Ala1336GlyfsTer?)
c.4004_4007del (p.Ala1335GlyfsTer?)
c.3923_3926del (p.Ala1308GlyfsTer?)
c.3854_3857del (p.Ala1285GlyfsTer?)
c.3722_3725del (p.Ala1241GlyfsTer?)
c.3590_3593del (p.Ala1197GlyfsTer?)

Number of alleles fetched