Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.32436598A>CCA408564001ASXL1c.3886A>C (p.Asn1296His)
c.3703A>C (p.Asn1235His)
n.6239A>C
c.1870-1832A>C (n.1870-1832A>C)
c.3871A>C (p.Asn1291His)
c.3883A>C (p.Asn1295His)
c.3856A>C (p.Asn1286His)
c.3802A>C (p.Asn1268His)
c.3202A>C (p.Asn1068His)
c.4150A>C (p.Asn1384His)
c.4147A>C (p.Asn1383His)
c.4066A>C (p.Asn1356His)
c.3997A>C (p.Asn1333His)
c.3865A>C (p.Asn1289His)
c.3733A>C (p.Asn1245His)
20g.32436598A>GCA408564002ASXL1c.3886A>G (p.Asn1296Asp)
c.3703A>G (p.Asn1235Asp)
n.6239A>G
c.1870-1832A>G (n.1870-1832A>G)
c.3871A>G (p.Asn1291Asp)
c.3883A>G (p.Asn1295Asp)
c.3856A>G (p.Asn1286Asp)
c.3802A>G (p.Asn1268Asp)
c.3202A>G (p.Asn1068Asp)
c.4150A>G (p.Asn1384Asp)
c.4147A>G (p.Asn1383Asp)
c.4066A>G (p.Asn1356Asp)
c.3997A>G (p.Asn1333Asp)
c.3865A>G (p.Asn1289Asp)
c.3733A>G (p.Asn1245Asp)
20g.32436598A>TCA408564003ASXL1c.3886A>T (p.Asn1296Tyr)
c.3703A>T (p.Asn1235Tyr)
n.6239A>T
c.1870-1832A>T (n.1870-1832A>T)
c.3871A>T (p.Asn1291Tyr)
c.3883A>T (p.Asn1295Tyr)
c.3856A>T (p.Asn1286Tyr)
c.3802A>T (p.Asn1268Tyr)
c.3202A>T (p.Asn1068Tyr)
c.4150A>T (p.Asn1384Tyr)
c.4147A>T (p.Asn1383Tyr)
c.4066A>T (p.Asn1356Tyr)
c.3997A>T (p.Asn1333Tyr)
c.3865A>T (p.Asn1289Tyr)
c.3733A>T (p.Asn1245Tyr)
20g.32436599A>CCA408564004ASXL1c.3887A>C (p.Asn1296Thr)
c.3704A>C (p.Asn1235Thr)
n.6240A>C
c.1870-1831A>C (n.1870-1831A>C)
c.3872A>C (p.Asn1291Thr)
c.3884A>C (p.Asn1295Thr)
c.3857A>C (p.Asn1286Thr)
c.3803A>C (p.Asn1268Thr)
c.3203A>C (p.Asn1068Thr)
c.4151A>C (p.Asn1384Thr)
c.4148A>C (p.Asn1383Thr)
c.4067A>C (p.Asn1356Thr)
c.3998A>C (p.Asn1333Thr)
c.3866A>C (p.Asn1289Thr)
c.3734A>C (p.Asn1245Thr)
20g.32436599A>GCA408564005ASXL1c.3887A>G (p.Asn1296Ser)
c.3704A>G (p.Asn1235Ser)
n.6240A>G
c.1870-1831A>G (n.1870-1831A>G)
c.3872A>G (p.Asn1291Ser)
c.3884A>G (p.Asn1295Ser)
c.3857A>G (p.Asn1286Ser)
c.3803A>G (p.Asn1268Ser)
c.3203A>G (p.Asn1068Ser)
c.4151A>G (p.Asn1384Ser)
c.4148A>G (p.Asn1383Ser)
c.4067A>G (p.Asn1356Ser)
c.3998A>G (p.Asn1333Ser)
c.3866A>G (p.Asn1289Ser)
c.3734A>G (p.Asn1245Ser)
20g.32436599A>TCA408564006ASXL1c.3887A>T (p.Asn1296Ile)
c.3704A>T (p.Asn1235Ile)
n.6240A>T
c.1870-1831A>T (n.1870-1831A>T)
c.3872A>T (p.Asn1291Ile)
c.3884A>T (p.Asn1295Ile)
c.3857A>T (p.Asn1286Ile)
c.3803A>T (p.Asn1268Ile)
c.3203A>T (p.Asn1068Ile)
c.4151A>T (p.Asn1384Ile)
c.4148A>T (p.Asn1383Ile)
c.4067A>T (p.Asn1356Ile)
c.3998A>T (p.Asn1333Ile)
c.3866A>T (p.Asn1289Ile)
c.3734A>T (p.Asn1245Ile)
20g.32436600T>ACA9808920ASXL1c.3888T>A (p.Asn1296Lys)
c.3705T>A (p.Asn1235Lys)
n.6241T>A
c.1870-1830T>A (n.1870-1830T>A)
c.3873T>A (p.Asn1291Lys)
c.3885T>A (p.Asn1295Lys)
c.3858T>A (p.Asn1286Lys)
c.3804T>A (p.Asn1268Lys)
c.3204T>A (p.Asn1068Lys)
c.4152T>A (p.Asn1384Lys)
c.4149T>A (p.Asn1383Lys)
c.4068T>A (p.Asn1356Lys)
c.3999T>A (p.Asn1333Lys)
c.3867T>A (p.Asn1289Lys)
c.3735T>A (p.Asn1245Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436600T>CCA510467472ASXL1c.3888T>C (p.Asn1296=)
c.3705T>C (p.Asn1235=)
n.6241T>C
c.1870-1830T>C (n.1870-1830T>C)
c.3873T>C (p.Asn1291=)
c.3885T>C (p.Asn1295=)
c.3858T>C (p.Asn1286=)
c.3804T>C (p.Asn1268=)
c.3204T>C (p.Asn1068=)
c.4152T>C (p.Asn1384=)
c.4149T>C (p.Asn1383=)
c.4068T>C (p.Asn1356=)
c.3999T>C (p.Asn1333=)
c.3867T>C (p.Asn1289=)
c.3735T>C (p.Asn1245=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436600T>GCA408564007ASXL1c.3888T>G (p.Asn1296Lys)
c.3705T>G (p.Asn1235Lys)
n.6241T>G
c.1870-1830T>G (n.1870-1830T>G)
c.3873T>G (p.Asn1291Lys)
c.3885T>G (p.Asn1295Lys)
c.3858T>G (p.Asn1286Lys)
c.3804T>G (p.Asn1268Lys)
c.3204T>G (p.Asn1068Lys)
c.4152T>G (p.Asn1384Lys)
c.4149T>G (p.Asn1383Lys)
c.4068T>G (p.Asn1356Lys)
c.3999T>G (p.Asn1333Lys)
c.3867T>G (p.Asn1289Lys)
c.3735T>G (p.Asn1245Lys)
20g.32436600T=CA2360293782ASXL1c.3888T= (p.Asn1296=)
c.3705T= (p.Asn1235=)
n.6241T=
c.1870-1830T= (n.1870-1830T=)
c.3873T= (p.Asn1291=)
c.3885T= (p.Asn1295=)
c.3858T= (p.Asn1286=)
c.3804T= (p.Asn1268=)
c.3204T= (p.Asn1068=)
c.4152T= (p.Asn1384=)
c.4149T= (p.Asn1383=)
c.4068T= (p.Asn1356=)
c.3999T= (p.Asn1333=)
c.3867T= (p.Asn1289=)
c.3735T= (p.Asn1245=)
20g.32436601G>ACA157044ASXL1c.3889G>A (p.Val1297Ile)
c.3706G>A (p.Val1236Ile)
n.6242G>A
c.1870-1829G>A (n.1870-1829G>A)
c.3874G>A (p.Val1292Ile)
c.3886G>A (p.Val1296Ile)
c.3859G>A (p.Val1287Ile)
c.3805G>A (p.Val1269Ile)
c.3205G>A (p.Val1069Ile)
c.4153G>A (p.Val1385Ile)
c.4150G>A (p.Val1384Ile)
c.4069G>A (p.Val1357Ile)
c.4000G>A (p.Val1334Ile)
c.3868G>A (p.Val1290Ile)
c.3736G>A (p.Val1246Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436601G>CCA408564008ASXL1c.3889G>C (p.Val1297Leu)
c.3706G>C (p.Val1236Leu)
n.6242G>C
c.1870-1829G>C (n.1870-1829G>C)
c.3874G>C (p.Val1292Leu)
c.3886G>C (p.Val1296Leu)
c.3859G>C (p.Val1287Leu)
c.3805G>C (p.Val1269Leu)
c.3205G>C (p.Val1069Leu)
c.4153G>C (p.Val1385Leu)
c.4150G>C (p.Val1384Leu)
c.4069G>C (p.Val1357Leu)
c.4000G>C (p.Val1334Leu)
c.3868G>C (p.Val1290Leu)
c.3736G>C (p.Val1246Leu)
 dbSNP
20g.32436601G=CA2360293783ASXL1c.3889G= (p.Val1297=)
c.3706G= (p.Val1236=)
n.6242G=
c.1870-1829G= (n.1870-1829G=)
c.3874G= (p.Val1292=)
c.3886G= (p.Val1296=)
c.3859G= (p.Val1287=)
c.3805G= (p.Val1269=)
c.3205G= (p.Val1069=)
c.4153G= (p.Val1385=)
c.4150G= (p.Val1384=)
c.4069G= (p.Val1357=)
c.4000G= (p.Val1334=)
c.3868G= (p.Val1290=)
c.3736G= (p.Val1246=)
20g.32436601G>TCA408564009ASXL1c.3889G>T (p.Val1297Phe)
c.3706G>T (p.Val1236Phe)
n.6242G>T
c.1870-1829G>T (n.1870-1829G>T)
c.3874G>T (p.Val1292Phe)
c.3886G>T (p.Val1296Phe)
c.3859G>T (p.Val1287Phe)
c.3805G>T (p.Val1269Phe)
c.3205G>T (p.Val1069Phe)
c.4153G>T (p.Val1385Phe)
c.4150G>T (p.Val1384Phe)
c.4069G>T (p.Val1357Phe)
c.4000G>T (p.Val1334Phe)
c.3868G>T (p.Val1290Phe)
c.3736G>T (p.Val1246Phe)
20g.32436602T>ACA408564010ASXL1c.3890T>A (p.Val1297Asp)
c.3707T>A (p.Val1236Asp)
n.6243T>A
c.1870-1828T>A (n.1870-1828T>A)
c.3875T>A (p.Val1292Asp)
c.3887T>A (p.Val1296Asp)
c.3860T>A (p.Val1287Asp)
c.3806T>A (p.Val1269Asp)
c.3206T>A (p.Val1069Asp)
c.4154T>A (p.Val1385Asp)
c.4151T>A (p.Val1384Asp)
c.4070T>A (p.Val1357Asp)
c.4001T>A (p.Val1334Asp)
c.3869T>A (p.Val1290Asp)
c.3737T>A (p.Val1246Asp)
20g.32436602T>CCA408564011ASXL1c.3890T>C (p.Val1297Ala)
c.3707T>C (p.Val1236Ala)
n.6243T>C
c.1870-1828T>C (n.1870-1828T>C)
c.3875T>C (p.Val1292Ala)
c.3887T>C (p.Val1296Ala)
c.3860T>C (p.Val1287Ala)
c.3806T>C (p.Val1269Ala)
c.3206T>C (p.Val1069Ala)
c.4154T>C (p.Val1385Ala)
c.4151T>C (p.Val1384Ala)
c.4070T>C (p.Val1357Ala)
c.4001T>C (p.Val1334Ala)
c.3869T>C (p.Val1290Ala)
c.3737T>C (p.Val1246Ala)
20g.32436602T>GCA408564012ASXL1c.3890T>G (p.Val1297Gly)
c.3707T>G (p.Val1236Gly)
n.6243T>G
c.1870-1828T>G (n.1870-1828T>G)
c.3875T>G (p.Val1292Gly)
c.3887T>G (p.Val1296Gly)
c.3860T>G (p.Val1287Gly)
c.3806T>G (p.Val1269Gly)
c.3206T>G (p.Val1069Gly)
c.4154T>G (p.Val1385Gly)
c.4151T>G (p.Val1384Gly)
c.4070T>G (p.Val1357Gly)
c.4001T>G (p.Val1334Gly)
c.3869T>G (p.Val1290Gly)
c.3737T>G (p.Val1246Gly)
20g.32436603T>ACA510467473ASXL1c.3891T>A (p.Val1297=)
c.3708T>A (p.Val1236=)
n.6244T>A
c.1870-1827T>A (n.1870-1827T>A)
c.3876T>A (p.Val1292=)
c.3888T>A (p.Val1296=)
c.3861T>A (p.Val1287=)
c.3807T>A (p.Val1269=)
c.3207T>A (p.Val1069=)
c.4155T>A (p.Val1385=)
c.4152T>A (p.Val1384=)
c.4071T>A (p.Val1357=)
c.4002T>A (p.Val1334=)
c.3870T>A (p.Val1290=)
c.3738T>A (p.Val1246=)
20g.32436603T>CCA510467474ASXL1c.3891T>C (p.Val1297=)
c.3708T>C (p.Val1236=)
n.6244T>C
c.1870-1827T>C (n.1870-1827T>C)
c.3876T>C (p.Val1292=)
c.3888T>C (p.Val1296=)
c.3861T>C (p.Val1287=)
c.3807T>C (p.Val1269=)
c.3207T>C (p.Val1069=)
c.4155T>C (p.Val1385=)
c.4152T>C (p.Val1384=)
c.4071T>C (p.Val1357=)
c.4002T>C (p.Val1334=)
c.3870T>C (p.Val1290=)
c.3738T>C (p.Val1246=)
20g.32436603T>GCA510467475ASXL1c.3891T>G (p.Val1297=)
c.3708T>G (p.Val1236=)
n.6244T>G
c.1870-1827T>G (n.1870-1827T>G)
c.3876T>G (p.Val1292=)
c.3888T>G (p.Val1296=)
c.3861T>G (p.Val1287=)
c.3807T>G (p.Val1269=)
c.3207T>G (p.Val1069=)
c.4155T>G (p.Val1385=)
c.4152T>G (p.Val1384=)
c.4071T>G (p.Val1357=)
c.4002T>G (p.Val1334=)
c.3870T>G (p.Val1290=)
c.3738T>G (p.Val1246=)
20g.32436604A=CA2360293784ASXL1c.3892A= (p.Thr1298=)
c.3709A= (p.Thr1237=)
n.6245A=
c.1870-1826A= (n.1870-1826A=)
c.3877A= (p.Thr1293=)
c.3889A= (p.Thr1297=)
c.3862A= (p.Thr1288=)
c.3808A= (p.Thr1270=)
c.3208A= (p.Thr1070=)
c.4156A= (p.Thr1386=)
c.4153A= (p.Thr1385=)
c.4072A= (p.Thr1358=)
c.4003A= (p.Thr1335=)
c.3871A= (p.Thr1291=)
c.3739A= (p.Thr1247=)
20g.32436604A>CCA408564013ASXL1c.3892A>C (p.Thr1298Pro)
c.3709A>C (p.Thr1237Pro)
n.6245A>C
c.1870-1826A>C (n.1870-1826A>C)
c.3877A>C (p.Thr1293Pro)
c.3889A>C (p.Thr1297Pro)
c.3862A>C (p.Thr1288Pro)
c.3808A>C (p.Thr1270Pro)
c.3208A>C (p.Thr1070Pro)
c.4156A>C (p.Thr1386Pro)
c.4153A>C (p.Thr1385Pro)
c.4072A>C (p.Thr1358Pro)
c.4003A>C (p.Thr1335Pro)
c.3871A>C (p.Thr1291Pro)
c.3739A>C (p.Thr1247Pro)
20g.32436604A>GCA408564014ASXL1c.3892A>G (p.Thr1298Ala)
c.3709A>G (p.Thr1237Ala)
n.6245A>G
c.1870-1826A>G (n.1870-1826A>G)
c.3877A>G (p.Thr1293Ala)
c.3889A>G (p.Thr1297Ala)
c.3862A>G (p.Thr1288Ala)
c.3808A>G (p.Thr1270Ala)
c.3208A>G (p.Thr1070Ala)
c.4156A>G (p.Thr1386Ala)
c.4153A>G (p.Thr1385Ala)
c.4072A>G (p.Thr1358Ala)
c.4003A>G (p.Thr1335Ala)
c.3871A>G (p.Thr1291Ala)
c.3739A>G (p.Thr1247Ala)
 gnomAD v4
20g.32436604A>TCA408564015ASXL1c.3892A>T (p.Thr1298Ser)
c.3709A>T (p.Thr1237Ser)
n.6245A>T
c.1870-1826A>T (n.1870-1826A>T)
c.3877A>T (p.Thr1293Ser)
c.3889A>T (p.Thr1297Ser)
c.3862A>T (p.Thr1288Ser)
c.3808A>T (p.Thr1270Ser)
c.3208A>T (p.Thr1070Ser)
c.4156A>T (p.Thr1386Ser)
c.4153A>T (p.Thr1385Ser)
c.4072A>T (p.Thr1358Ser)
c.4003A>T (p.Thr1335Ser)
c.3871A>T (p.Thr1291Ser)
c.3739A>T (p.Thr1247Ser)
20g.32436605C>ACA408564016ASXL1c.3893C>A (p.Thr1298Lys)
c.3710C>A (p.Thr1237Lys)
n.6246C>A
c.1870-1825C>A (n.1870-1825C>A)
c.3878C>A (p.Thr1293Lys)
c.3890C>A (p.Thr1297Lys)
c.3863C>A (p.Thr1288Lys)
c.3809C>A (p.Thr1270Lys)
c.3209C>A (p.Thr1070Lys)
c.4157C>A (p.Thr1386Lys)
c.4154C>A (p.Thr1385Lys)
c.4073C>A (p.Thr1358Lys)
c.4004C>A (p.Thr1335Lys)
c.3872C>A (p.Thr1291Lys)
c.3740C>A (p.Thr1247Lys)
 gnomAD v4
20g.32436605C=CA2360293785ASXL1c.3893C= (p.Thr1298=)
c.3710C= (p.Thr1237=)
n.6246C=
c.1870-1825C= (n.1870-1825C=)
c.3878C= (p.Thr1293=)
c.3890C= (p.Thr1297=)
c.3863C= (p.Thr1288=)
c.3809C= (p.Thr1270=)
c.3209C= (p.Thr1070=)
c.4157C= (p.Thr1386=)
c.4154C= (p.Thr1385=)
c.4073C= (p.Thr1358=)
c.4004C= (p.Thr1335=)
c.3872C= (p.Thr1291=)
c.3740C= (p.Thr1247=)
20g.32436605C>GCA408564017ASXL1c.3893C>G (p.Thr1298Arg)
c.3710C>G (p.Thr1237Arg)
n.6246C>G
c.1870-1825C>G (n.1870-1825C>G)
c.3878C>G (p.Thr1293Arg)
c.3890C>G (p.Thr1297Arg)
c.3863C>G (p.Thr1288Arg)
c.3809C>G (p.Thr1270Arg)
c.3209C>G (p.Thr1070Arg)
c.4157C>G (p.Thr1386Arg)
c.4154C>G (p.Thr1385Arg)
c.4073C>G (p.Thr1358Arg)
c.4004C>G (p.Thr1335Arg)
c.3872C>G (p.Thr1291Arg)
c.3740C>G (p.Thr1247Arg)
 dbSNP
20g.32436605C>TCA9808921ASXL1c.3893C>T (p.Thr1298Ile)
c.3710C>T (p.Thr1237Ile)
n.6246C>T
c.1870-1825C>T (n.1870-1825C>T)
c.3878C>T (p.Thr1293Ile)
c.3890C>T (p.Thr1297Ile)
c.3863C>T (p.Thr1288Ile)
c.3809C>T (p.Thr1270Ile)
c.3209C>T (p.Thr1070Ile)
c.4157C>T (p.Thr1386Ile)
c.4154C>T (p.Thr1385Ile)
c.4073C>T (p.Thr1358Ile)
c.4004C>T (p.Thr1335Ile)
c.3872C>T (p.Thr1291Ile)
c.3740C>T (p.Thr1247Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436606_32436609dupCA16043209ASXL1c.3894_3897dup (p.Gln1300ArgfsTer30)
c.3711_3714dup (p.Gln1239ArgfsTer30)
n.6247_6250dup
c.1870-1824_1870-1821dup (n.1870-1824_1870-1821dup)
c.3879_3882dup (p.Gln1295ArgfsTer30)
c.3891_3894dup (p.Gln1299ArgfsTer30)
c.3864_3867dup (p.Gln1290ArgfsTer30)
c.3810_3813dup (p.Gln1272ArgfsTer30)
c.3210_3213dup (p.Gln1072ArgfsTer30)
c.4158_4161dup (p.Gln1388ArgfsTer30)
c.4155_4158dup (p.Gln1387ArgfsTer30)
c.4074_4077dup (p.Gln1360ArgfsTer30)
c.4005_4008dup (p.Gln1337ArgfsTer30)
c.3873_3876dup (p.Gln1293ArgfsTer30)
c.3741_3744dup (p.Gln1249ArgfsTer30)
 ClinVar dbSNP
20g.32436606A>CCA510467476ASXL1c.3894A>C (p.Thr1298=)
c.3711A>C (p.Thr1237=)
n.6247A>C
c.1870-1824A>C (n.1870-1824A>C)
c.3879A>C (p.Thr1293=)
c.3891A>C (p.Thr1297=)
c.3864A>C (p.Thr1288=)
c.3810A>C (p.Thr1270=)
c.3210A>C (p.Thr1070=)
c.4158A>C (p.Thr1386=)
c.4155A>C (p.Thr1385=)
c.4074A>C (p.Thr1358=)
c.4005A>C (p.Thr1335=)
c.3873A>C (p.Thr1291=)
c.3741A>C (p.Thr1247=)
20g.32436606A>GCA510467477ASXL1c.3894A>G (p.Thr1298=)
c.3711A>G (p.Thr1237=)
n.6247A>G
c.1870-1824A>G (n.1870-1824A>G)
c.3879A>G (p.Thr1293=)
c.3891A>G (p.Thr1297=)
c.3864A>G (p.Thr1288=)
c.3810A>G (p.Thr1270=)
c.3210A>G (p.Thr1070=)
c.4158A>G (p.Thr1386=)
c.4155A>G (p.Thr1385=)
c.4074A>G (p.Thr1358=)
c.4005A>G (p.Thr1335=)
c.3873A>G (p.Thr1291=)
c.3741A>G (p.Thr1247=)
20g.32436606A>TCA510467478ASXL1c.3894A>T (p.Thr1298=)
c.3711A>T (p.Thr1237=)
n.6247A>T
c.1870-1824A>T (n.1870-1824A>T)
c.3879A>T (p.Thr1293=)
c.3891A>T (p.Thr1297=)
c.3864A>T (p.Thr1288=)
c.3810A>T (p.Thr1270=)
c.3210A>T (p.Thr1070=)
c.4158A>T (p.Thr1386=)
c.4155A>T (p.Thr1385=)
c.4074A>T (p.Thr1358=)
c.4005A>T (p.Thr1335=)
c.3873A>T (p.Thr1291=)
c.3741A>T (p.Thr1247=)
20g.32436606_32436613delCA2695202316ASXL1c.3894_3901del (p.Gly1299GlufsTer27)
c.3711_3718del (p.Gly1238GlufsTer27)
n.6247_6254del
c.1870-1824_1870-1817del (n.1870-1824_1870-1817del)
c.3879_3886del (p.Gly1294GlufsTer27)
c.3891_3898del (p.Gly1298GlufsTer27)
c.3864_3871del (p.Gly1289GlufsTer27)
c.3810_3817del (p.Gly1271GlufsTer27)
c.3210_3217del (p.Gly1071GlufsTer27)
c.4158_4165del (p.Gly1387GlufsTer27)
c.4155_4162del (p.Gly1386GlufsTer27)
c.4074_4081del (p.Gly1359GlufsTer27)
c.4005_4012del (p.Gly1336GlufsTer27)
c.3873_3880del (p.Gly1292GlufsTer27)
c.3741_3748del (p.Gly1248GlufsTer27)
20g.32436607G>ACA408564018ASXL1c.3895G>A (p.Gly1299Ser)
c.3712G>A (p.Gly1238Ser)
n.6248G>A
c.1870-1823G>A (n.1870-1823G>A)
c.3880G>A (p.Gly1294Ser)
c.3892G>A (p.Gly1298Ser)
c.3865G>A (p.Gly1289Ser)
c.3811G>A (p.Gly1271Ser)
c.3211G>A (p.Gly1071Ser)
c.4159G>A (p.Gly1387Ser)
c.4156G>A (p.Gly1386Ser)
c.4075G>A (p.Gly1359Ser)
c.4006G>A (p.Gly1336Ser)
c.3874G>A (p.Gly1292Ser)
c.3742G>A (p.Gly1248Ser)
20g.32436607G>CCA408564020ASXL1c.3895G>C (p.Gly1299Arg)
c.3712G>C (p.Gly1238Arg)
n.6248G>C
c.1870-1823G>C (n.1870-1823G>C)
c.3880G>C (p.Gly1294Arg)
c.3892G>C (p.Gly1298Arg)
c.3865G>C (p.Gly1289Arg)
c.3811G>C (p.Gly1271Arg)
c.3211G>C (p.Gly1071Arg)
c.4159G>C (p.Gly1387Arg)
c.4156G>C (p.Gly1386Arg)
c.4075G>C (p.Gly1359Arg)
c.4006G>C (p.Gly1336Arg)
c.3874G>C (p.Gly1292Arg)
c.3742G>C (p.Gly1248Arg)
20g.32436607G>TCA408564019ASXL1c.3895G>T (p.Gly1299Cys)
c.3712G>T (p.Gly1238Cys)
n.6248G>T
c.1870-1823G>T (n.1870-1823G>T)
c.3880G>T (p.Gly1294Cys)
c.3892G>T (p.Gly1298Cys)
c.3865G>T (p.Gly1289Cys)
c.3811G>T (p.Gly1271Cys)
c.3211G>T (p.Gly1071Cys)
c.4159G>T (p.Gly1387Cys)
c.4156G>T (p.Gly1386Cys)
c.4075G>T (p.Gly1359Cys)
c.4006G>T (p.Gly1336Cys)
c.3874G>T (p.Gly1292Cys)
c.3742G>T (p.Gly1248Cys)
20g.32436608G>ACA408564021ASXL1c.3896G>A (p.Gly1299Asp)
c.3713G>A (p.Gly1238Asp)
n.6249G>A
c.1870-1822G>A (n.1870-1822G>A)
c.3881G>A (p.Gly1294Asp)
c.3893G>A (p.Gly1298Asp)
c.3866G>A (p.Gly1289Asp)
c.3812G>A (p.Gly1271Asp)
c.3212G>A (p.Gly1071Asp)
c.4160G>A (p.Gly1387Asp)
c.4157G>A (p.Gly1386Asp)
c.4076G>A (p.Gly1359Asp)
c.4007G>A (p.Gly1336Asp)
c.3875G>A (p.Gly1292Asp)
c.3743G>A (p.Gly1248Asp)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.32436608G>CCA408564023ASXL1c.3896G>C (p.Gly1299Ala)
c.3713G>C (p.Gly1238Ala)
n.6249G>C
c.1870-1822G>C (n.1870-1822G>C)
c.3881G>C (p.Gly1294Ala)
c.3893G>C (p.Gly1298Ala)
c.3866G>C (p.Gly1289Ala)
c.3812G>C (p.Gly1271Ala)
c.3212G>C (p.Gly1071Ala)
c.4160G>C (p.Gly1387Ala)
c.4157G>C (p.Gly1386Ala)
c.4076G>C (p.Gly1359Ala)
c.4007G>C (p.Gly1336Ala)
c.3875G>C (p.Gly1292Ala)
c.3743G>C (p.Gly1248Ala)
 dbSNP
20g.32436608G=CA2360293786ASXL1c.3896G= (p.Gly1299=)
c.3713G= (p.Gly1238=)
n.6249G=
c.1870-1822G= (n.1870-1822G=)
c.3881G= (p.Gly1294=)
c.3893G= (p.Gly1298=)
c.3866G= (p.Gly1289=)
c.3812G= (p.Gly1271=)
c.3212G= (p.Gly1071=)
c.4160G= (p.Gly1387=)
c.4157G= (p.Gly1386=)
c.4076G= (p.Gly1359=)
c.4007G= (p.Gly1336=)
c.3875G= (p.Gly1292=)
c.3743G= (p.Gly1248=)
20g.32436608G>TCA408564022ASXL1c.3896G>T (p.Gly1299Val)
c.3713G>T (p.Gly1238Val)
n.6249G>T
c.1870-1822G>T (n.1870-1822G>T)
c.3881G>T (p.Gly1294Val)
c.3893G>T (p.Gly1298Val)
c.3866G>T (p.Gly1289Val)
c.3812G>T (p.Gly1271Val)
c.3212G>T (p.Gly1071Val)
c.4160G>T (p.Gly1387Val)
c.4157G>T (p.Gly1386Val)
c.4076G>T (p.Gly1359Val)
c.4007G>T (p.Gly1336Val)
c.3875G>T (p.Gly1292Val)
c.3743G>T (p.Gly1248Val)
20g.32436609C>ACA510467481ASXL1c.3897C>A (p.Gly1299=)
c.3714C>A (p.Gly1238=)
n.6250C>A
c.1870-1821C>A (n.1870-1821C>A)
c.3882C>A (p.Gly1294=)
c.3894C>A (p.Gly1298=)
c.3867C>A (p.Gly1289=)
c.3813C>A (p.Gly1271=)
c.3213C>A (p.Gly1071=)
c.4161C>A (p.Gly1387=)
c.4158C>A (p.Gly1386=)
c.4077C>A (p.Gly1359=)
c.4008C>A (p.Gly1336=)
c.3876C>A (p.Gly1292=)
c.3744C>A (p.Gly1248=)
20g.32436609C=CA2360293787ASXL1c.3897C= (p.Gly1299=)
c.3714C= (p.Gly1238=)
n.6250C=
c.1870-1821C= (n.1870-1821C=)
c.3882C= (p.Gly1294=)
c.3894C= (p.Gly1298=)
c.3867C= (p.Gly1289=)
c.3813C= (p.Gly1271=)
c.3213C= (p.Gly1071=)
c.4161C= (p.Gly1387=)
c.4158C= (p.Gly1386=)
c.4077C= (p.Gly1359=)
c.4008C= (p.Gly1336=)
c.3876C= (p.Gly1292=)
c.3744C= (p.Gly1248=)
20g.32436609C>GCA510467480ASXL1c.3897C>G (p.Gly1299=)
c.3714C>G (p.Gly1238=)
n.6250C>G
c.1870-1821C>G (n.1870-1821C>G)
c.3882C>G (p.Gly1294=)
c.3894C>G (p.Gly1298=)
c.3867C>G (p.Gly1289=)
c.3813C>G (p.Gly1271=)
c.3213C>G (p.Gly1071=)
c.4161C>G (p.Gly1387=)
c.4158C>G (p.Gly1386=)
c.4077C>G (p.Gly1359=)
c.4008C>G (p.Gly1336=)
c.3876C>G (p.Gly1292=)
c.3744C>G (p.Gly1248=)
 dbSNP gnomAD v3 gnomAD v4
20g.32436609C>TCA510467479ASXL1c.3897C>T (p.Gly1299=)
c.3714C>T (p.Gly1238=)
n.6250C>T
c.1870-1821C>T (n.1870-1821C>T)
c.3882C>T (p.Gly1294=)
c.3894C>T (p.Gly1298=)
c.3867C>T (p.Gly1289=)
c.3813C>T (p.Gly1271=)
c.3213C>T (p.Gly1071=)
c.4161C>T (p.Gly1387=)
c.4158C>T (p.Gly1386=)
c.4077C>T (p.Gly1359=)
c.4008C>T (p.Gly1336=)
c.3876C>T (p.Gly1292=)
c.3744C>T (p.Gly1248=)
20g.32436610C>ACA408564024ASXL1c.3898C>A (p.Gln1300Lys)
c.3715C>A (p.Gln1239Lys)
n.6251C>A
c.1870-1820C>A (n.1870-1820C>A)
c.3883C>A (p.Gln1295Lys)
c.3895C>A (p.Gln1299Lys)
c.3868C>A (p.Gln1290Lys)
c.3814C>A (p.Gln1272Lys)
c.3214C>A (p.Gln1072Lys)
c.4162C>A (p.Gln1388Lys)
c.4159C>A (p.Gln1387Lys)
c.4078C>A (p.Gln1360Lys)
c.4009C>A (p.Gln1337Lys)
c.3877C>A (p.Gln1293Lys)
c.3745C>A (p.Gln1249Lys)
20g.32436610C>GCA408564025ASXL1c.3898C>G (p.Gln1300Glu)
c.3715C>G (p.Gln1239Glu)
n.6251C>G
c.1870-1820C>G (n.1870-1820C>G)
c.3883C>G (p.Gln1295Glu)
c.3895C>G (p.Gln1299Glu)
c.3868C>G (p.Gln1290Glu)
c.3814C>G (p.Gln1272Glu)
c.3214C>G (p.Gln1072Glu)
c.4162C>G (p.Gln1388Glu)
c.4159C>G (p.Gln1387Glu)
c.4078C>G (p.Gln1360Glu)
c.4009C>G (p.Gln1337Glu)
c.3877C>G (p.Gln1293Glu)
c.3745C>G (p.Gln1249Glu)
20g.32436610C>TCA408564026ASXL1c.3898C>T (p.Gln1300Ter)
c.3715C>T (p.Gln1239Ter)
n.6251C>T
c.1870-1820C>T (n.1870-1820C>T)
c.3883C>T (p.Gln1295Ter)
c.3895C>T (p.Gln1299Ter)
c.3868C>T (p.Gln1290Ter)
c.3814C>T (p.Gln1272Ter)
c.3214C>T (p.Gln1072Ter)
c.4162C>T (p.Gln1388Ter)
c.4159C>T (p.Gln1387Ter)
c.4078C>T (p.Gln1360Ter)
c.4009C>T (p.Gln1337Ter)
c.3877C>T (p.Gln1293Ter)
c.3745C>T (p.Gln1249Ter)
 gnomAD v4 COSMIC COSMIC
20g.32436611A>CCA408564027ASXL1c.3899A>C (p.Gln1300Pro)
c.3716A>C (p.Gln1239Pro)
n.6252A>C
c.1870-1819A>C (n.1870-1819A>C)
c.3884A>C (p.Gln1295Pro)
c.3896A>C (p.Gln1299Pro)
c.3869A>C (p.Gln1290Pro)
c.3815A>C (p.Gln1272Pro)
c.3215A>C (p.Gln1072Pro)
c.4163A>C (p.Gln1388Pro)
c.4160A>C (p.Gln1387Pro)
c.4079A>C (p.Gln1360Pro)
c.4010A>C (p.Gln1337Pro)
c.3878A>C (p.Gln1293Pro)
c.3746A>C (p.Gln1249Pro)
20g.32436611A>GCA408564028ASXL1c.3899A>G (p.Gln1300Arg)
c.3716A>G (p.Gln1239Arg)
n.6252A>G
c.1870-1819A>G (n.1870-1819A>G)
c.3884A>G (p.Gln1295Arg)
c.3896A>G (p.Gln1299Arg)
c.3869A>G (p.Gln1290Arg)
c.3815A>G (p.Gln1272Arg)
c.3215A>G (p.Gln1072Arg)
c.4163A>G (p.Gln1388Arg)
c.4160A>G (p.Gln1387Arg)
c.4079A>G (p.Gln1360Arg)
c.4010A>G (p.Gln1337Arg)
c.3878A>G (p.Gln1293Arg)
c.3746A>G (p.Gln1249Arg)
20g.32436611A>TCA408564029ASXL1c.3899A>T (p.Gln1300Leu)
c.3716A>T (p.Gln1239Leu)
n.6252A>T
c.1870-1819A>T (n.1870-1819A>T)
c.3884A>T (p.Gln1295Leu)
c.3896A>T (p.Gln1299Leu)
c.3869A>T (p.Gln1290Leu)
c.3815A>T (p.Gln1272Leu)
c.3215A>T (p.Gln1072Leu)
c.4163A>T (p.Gln1388Leu)
c.4160A>T (p.Gln1387Leu)
c.4079A>T (p.Gln1360Leu)
c.4010A>T (p.Gln1337Leu)
c.3878A>T (p.Gln1293Leu)
c.3746A>T (p.Gln1249Leu)
20g.32436612A>CCA408564030ASXL1c.3900A>C (p.Gln1300His)
c.3717A>C (p.Gln1239His)
n.6253A>C
c.1870-1818A>C (n.1870-1818A>C)
c.3885A>C (p.Gln1295His)
c.3897A>C (p.Gln1299His)
c.3870A>C (p.Gln1290His)
c.3816A>C (p.Gln1272His)
c.3216A>C (p.Gln1072His)
c.4164A>C (p.Gln1388His)
c.4161A>C (p.Gln1387His)
c.4080A>C (p.Gln1360His)
c.4011A>C (p.Gln1337His)
c.3879A>C (p.Gln1293His)
c.3747A>C (p.Gln1249His)
20g.32436612A>GCA510467482ASXL1c.3900A>G (p.Gln1300=)
c.3717A>G (p.Gln1239=)
n.6253A>G
c.1870-1818A>G (n.1870-1818A>G)
c.3885A>G (p.Gln1295=)
c.3897A>G (p.Gln1299=)
c.3870A>G (p.Gln1290=)
c.3816A>G (p.Gln1272=)
c.3216A>G (p.Gln1072=)
c.4164A>G (p.Gln1388=)
c.4161A>G (p.Gln1387=)
c.4080A>G (p.Gln1360=)
c.4011A>G (p.Gln1337=)
c.3879A>G (p.Gln1293=)
c.3747A>G (p.Gln1249=)
20g.32436612A>TCA408564031ASXL1c.3900A>T (p.Gln1300His)
c.3717A>T (p.Gln1239His)
n.6253A>T
c.1870-1818A>T (n.1870-1818A>T)
c.3885A>T (p.Gln1295His)
c.3897A>T (p.Gln1299His)
c.3870A>T (p.Gln1290His)
c.3816A>T (p.Gln1272His)
c.3216A>T (p.Gln1072His)
c.4164A>T (p.Gln1388His)
c.4161A>T (p.Gln1387His)
c.4080A>T (p.Gln1360His)
c.4011A>T (p.Gln1337His)
c.3879A>T (p.Gln1293His)
c.3747A>T (p.Gln1249His)
 dbSNP
20g.32436613G>ACA408564032ASXL1c.3901G>A (p.Gly1301Arg)
c.3718G>A (p.Gly1240Arg)
n.6254G>A
c.1870-1817G>A (n.1870-1817G>A)
c.3886G>A (p.Gly1296Arg)
c.3898G>A (p.Gly1300Arg)
c.3871G>A (p.Gly1291Arg)
c.3817G>A (p.Gly1273Arg)
c.3217G>A (p.Gly1073Arg)
c.4165G>A (p.Gly1389Arg)
c.4162G>A (p.Gly1388Arg)
c.4081G>A (p.Gly1361Arg)
c.4012G>A (p.Gly1338Arg)
c.3880G>A (p.Gly1294Arg)
c.3748G>A (p.Gly1250Arg)
20g.32436613G>CCA408564033ASXL1c.3901G>C (p.Gly1301Arg)
c.3718G>C (p.Gly1240Arg)
n.6254G>C
c.1870-1817G>C (n.1870-1817G>C)
c.3886G>C (p.Gly1296Arg)
c.3898G>C (p.Gly1300Arg)
c.3871G>C (p.Gly1291Arg)
c.3817G>C (p.Gly1273Arg)
c.3217G>C (p.Gly1073Arg)
c.4165G>C (p.Gly1389Arg)
c.4162G>C (p.Gly1388Arg)
c.4081G>C (p.Gly1361Arg)
c.4012G>C (p.Gly1338Arg)
c.3880G>C (p.Gly1294Arg)
c.3748G>C (p.Gly1250Arg)
20g.32436613G>TCA408564034ASXL1c.3901G>T (p.Gly1301Trp)
c.3718G>T (p.Gly1240Trp)
n.6254G>T
c.1870-1817G>T (n.1870-1817G>T)
c.3886G>T (p.Gly1296Trp)
c.3898G>T (p.Gly1300Trp)
c.3871G>T (p.Gly1291Trp)
c.3817G>T (p.Gly1273Trp)
c.3217G>T (p.Gly1073Trp)
c.4165G>T (p.Gly1389Trp)
c.4162G>T (p.Gly1388Trp)
c.4081G>T (p.Gly1361Trp)
c.4012G>T (p.Gly1338Trp)
c.3880G>T (p.Gly1294Trp)
c.3748G>T (p.Gly1250Trp)
20g.32436614G>ACA408564037ASXL1c.3902G>A (p.Gly1301Glu)
c.3719G>A (p.Gly1240Glu)
n.6255G>A
c.1870-1816G>A (n.1870-1816G>A)
c.3887G>A (p.Gly1296Glu)
c.3899G>A (p.Gly1300Glu)
c.3872G>A (p.Gly1291Glu)
c.3818G>A (p.Gly1273Glu)
c.3218G>A (p.Gly1073Glu)
c.4166G>A (p.Gly1389Glu)
c.4163G>A (p.Gly1388Glu)
c.4082G>A (p.Gly1361Glu)
c.4013G>A (p.Gly1338Glu)
c.3881G>A (p.Gly1294Glu)
c.3749G>A (p.Gly1250Glu)
 dbSNP
20g.32436614G>CCA408564035ASXL1c.3902G>C (p.Gly1301Ala)
c.3719G>C (p.Gly1240Ala)
n.6255G>C
c.1870-1816G>C (n.1870-1816G>C)
c.3887G>C (p.Gly1296Ala)
c.3899G>C (p.Gly1300Ala)
c.3872G>C (p.Gly1291Ala)
c.3818G>C (p.Gly1273Ala)
c.3218G>C (p.Gly1073Ala)
c.4166G>C (p.Gly1389Ala)
c.4163G>C (p.Gly1388Ala)
c.4082G>C (p.Gly1361Ala)
c.4013G>C (p.Gly1338Ala)
c.3881G>C (p.Gly1294Ala)
c.3749G>C (p.Gly1250Ala)
20g.32436614G>TCA408564036ASXL1c.3902G>T (p.Gly1301Val)
c.3719G>T (p.Gly1240Val)
n.6255G>T
c.1870-1816G>T (n.1870-1816G>T)
c.3887G>T (p.Gly1296Val)
c.3899G>T (p.Gly1300Val)
c.3872G>T (p.Gly1291Val)
c.3818G>T (p.Gly1273Val)
c.3218G>T (p.Gly1073Val)
c.4166G>T (p.Gly1389Val)
c.4163G>T (p.Gly1388Val)
c.4082G>T (p.Gly1361Val)
c.4013G>T (p.Gly1338Val)
c.3881G>T (p.Gly1294Val)
c.3749G>T (p.Gly1250Val)
20g.32436615G>ACA313926366ASXL1c.3903G>A (p.Gly1301=)
c.3720G>A (p.Gly1240=)
n.6256G>A
c.1870-1815G>A (n.1870-1815G>A)
c.3888G>A (p.Gly1296=)
c.3900G>A (p.Gly1300=)
c.3873G>A (p.Gly1291=)
c.3819G>A (p.Gly1273=)
c.3219G>A (p.Gly1073=)
c.4167G>A (p.Gly1389=)
c.4164G>A (p.Gly1388=)
c.4083G>A (p.Gly1361=)
c.4014G>A (p.Gly1338=)
c.3882G>A (p.Gly1294=)
c.3750G>A (p.Gly1250=)
 dbSNP gnomAD v4
20g.32436615G>CCA510467483ASXL1c.3903G>C (p.Gly1301=)
c.3720G>C (p.Gly1240=)
n.6256G>C
c.1870-1815G>C (n.1870-1815G>C)
c.3888G>C (p.Gly1296=)
c.3900G>C (p.Gly1300=)
c.3873G>C (p.Gly1291=)
c.3819G>C (p.Gly1273=)
c.3219G>C (p.Gly1073=)
c.4167G>C (p.Gly1389=)
c.4164G>C (p.Gly1388=)
c.4083G>C (p.Gly1361=)
c.4014G>C (p.Gly1338=)
c.3882G>C (p.Gly1294=)
c.3750G>C (p.Gly1250=)
 dbSNP
20g.32436615G=CA2360293788ASXL1c.3903G= (p.Gly1301=)
c.3720G= (p.Gly1240=)
n.6256G=
c.1870-1815G= (n.1870-1815G=)
c.3888G= (p.Gly1296=)
c.3900G= (p.Gly1300=)
c.3873G= (p.Gly1291=)
c.3819G= (p.Gly1273=)
c.3219G= (p.Gly1073=)
c.4167G= (p.Gly1389=)
c.4164G= (p.Gly1388=)
c.4083G= (p.Gly1361=)
c.4014G= (p.Gly1338=)
c.3882G= (p.Gly1294=)
c.3750G= (p.Gly1250=)
20g.32436615G>TCA510467484ASXL1c.3903G>T (p.Gly1301=)
c.3720G>T (p.Gly1240=)
n.6256G>T
c.1870-1815G>T (n.1870-1815G>T)
c.3888G>T (p.Gly1296=)
c.3900G>T (p.Gly1300=)
c.3873G>T (p.Gly1291=)
c.3819G>T (p.Gly1273=)
c.3219G>T (p.Gly1073=)
c.4167G>T (p.Gly1389=)
c.4164G>T (p.Gly1388=)
c.4083G>T (p.Gly1361=)
c.4014G>T (p.Gly1338=)
c.3882G>T (p.Gly1294=)
c.3750G>T (p.Gly1250=)
20g.32436616A>CCA408564038ASXL1c.3904A>C (p.Lys1302Gln)
c.3721A>C (p.Lys1241Gln)
n.6257A>C
c.1870-1814A>C (n.1870-1814A>C)
c.3889A>C (p.Lys1297Gln)
c.3901A>C (p.Lys1301Gln)
c.3874A>C (p.Lys1292Gln)
c.3820A>C (p.Lys1274Gln)
c.3220A>C (p.Lys1074Gln)
c.4168A>C (p.Lys1390Gln)
c.4165A>C (p.Lys1389Gln)
c.4084A>C (p.Lys1362Gln)
c.4015A>C (p.Lys1339Gln)
c.3883A>C (p.Lys1295Gln)
c.3751A>C (p.Lys1251Gln)
20g.32436616A>GCA408564039ASXL1c.3904A>G (p.Lys1302Glu)
c.3721A>G (p.Lys1241Glu)
n.6257A>G
c.1870-1814A>G (n.1870-1814A>G)
c.3889A>G (p.Lys1297Glu)
c.3901A>G (p.Lys1301Glu)
c.3874A>G (p.Lys1292Glu)
c.3820A>G (p.Lys1274Glu)
c.3220A>G (p.Lys1074Glu)
c.4168A>G (p.Lys1390Glu)
c.4165A>G (p.Lys1389Glu)
c.4084A>G (p.Lys1362Glu)
c.4015A>G (p.Lys1339Glu)
c.3883A>G (p.Lys1295Glu)
c.3751A>G (p.Lys1251Glu)
20g.32436616A>TCA408564040ASXL1c.3904A>T (p.Lys1302Ter)
c.3721A>T (p.Lys1241Ter)
n.6257A>T
c.1870-1814A>T (n.1870-1814A>T)
c.3889A>T (p.Lys1297Ter)
c.3901A>T (p.Lys1301Ter)
c.3874A>T (p.Lys1292Ter)
c.3820A>T (p.Lys1274Ter)
c.3220A>T (p.Lys1074Ter)
c.4168A>T (p.Lys1390Ter)
c.4165A>T (p.Lys1389Ter)
c.4084A>T (p.Lys1362Ter)
c.4015A>T (p.Lys1339Ter)
c.3883A>T (p.Lys1295Ter)
c.3751A>T (p.Lys1251Ter)
20g.32436617A>CCA408564041ASXL1c.3905A>C (p.Lys1302Thr)
c.3722A>C (p.Lys1241Thr)
n.6258A>C
c.1870-1813A>C (n.1870-1813A>C)
c.3890A>C (p.Lys1297Thr)
c.3902A>C (p.Lys1301Thr)
c.3875A>C (p.Lys1292Thr)
c.3821A>C (p.Lys1274Thr)
c.3221A>C (p.Lys1074Thr)
c.4169A>C (p.Lys1390Thr)
c.4166A>C (p.Lys1389Thr)
c.4085A>C (p.Lys1362Thr)
c.4016A>C (p.Lys1339Thr)
c.3884A>C (p.Lys1295Thr)
c.3752A>C (p.Lys1251Thr)
20g.32436617A>GCA408564042ASXL1c.3905A>G (p.Lys1302Arg)
c.3722A>G (p.Lys1241Arg)
n.6258A>G
c.1870-1813A>G (n.1870-1813A>G)
c.3890A>G (p.Lys1297Arg)
c.3902A>G (p.Lys1301Arg)
c.3875A>G (p.Lys1292Arg)
c.3821A>G (p.Lys1274Arg)
c.3221A>G (p.Lys1074Arg)
c.4169A>G (p.Lys1390Arg)
c.4166A>G (p.Lys1389Arg)
c.4085A>G (p.Lys1362Arg)
c.4016A>G (p.Lys1339Arg)
c.3884A>G (p.Lys1295Arg)
c.3752A>G (p.Lys1251Arg)
20g.32436617A>TCA408564043ASXL1c.3905A>T (p.Lys1302Met)
c.3722A>T (p.Lys1241Met)
n.6258A>T
c.1870-1813A>T (n.1870-1813A>T)
c.3890A>T (p.Lys1297Met)
c.3902A>T (p.Lys1301Met)
c.3875A>T (p.Lys1292Met)
c.3821A>T (p.Lys1274Met)
c.3221A>T (p.Lys1074Met)
c.4169A>T (p.Lys1390Met)
c.4166A>T (p.Lys1389Met)
c.4085A>T (p.Lys1362Met)
c.4016A>T (p.Lys1339Met)
c.3884A>T (p.Lys1295Met)
c.3752A>T (p.Lys1251Met)
20g.32436618G>ACA510467485ASXL1c.3906G>A (p.Lys1302=)
c.3723G>A (p.Lys1241=)
n.6259G>A
c.1870-1812G>A (n.1870-1812G>A)
c.3891G>A (p.Lys1297=)
c.3903G>A (p.Lys1301=)
c.3876G>A (p.Lys1292=)
c.3822G>A (p.Lys1274=)
c.3222G>A (p.Lys1074=)
c.4170G>A (p.Lys1390=)
c.4167G>A (p.Lys1389=)
c.4086G>A (p.Lys1362=)
c.4017G>A (p.Lys1339=)
c.3885G>A (p.Lys1295=)
c.3753G>A (p.Lys1251=)
 dbSNP
20g.32436618G>CCA408564044ASXL1c.3906G>C (p.Lys1302Asn)
c.3723G>C (p.Lys1241Asn)
n.6259G>C
c.1870-1812G>C (n.1870-1812G>C)
c.3891G>C (p.Lys1297Asn)
c.3903G>C (p.Lys1301Asn)
c.3876G>C (p.Lys1292Asn)
c.3822G>C (p.Lys1274Asn)
c.3222G>C (p.Lys1074Asn)
c.4170G>C (p.Lys1390Asn)
c.4167G>C (p.Lys1389Asn)
c.4086G>C (p.Lys1362Asn)
c.4017G>C (p.Lys1339Asn)
c.3885G>C (p.Lys1295Asn)
c.3753G>C (p.Lys1251Asn)
 dbSNP
20g.32436618G=CA2360293789ASXL1c.3906G= (p.Lys1302=)
c.3723G= (p.Lys1241=)
n.6259G=
c.1870-1812G= (n.1870-1812G=)
c.3891G= (p.Lys1297=)
c.3903G= (p.Lys1301=)
c.3876G= (p.Lys1292=)
c.3822G= (p.Lys1274=)
c.3222G= (p.Lys1074=)
c.4170G= (p.Lys1390=)
c.4167G= (p.Lys1389=)
c.4086G= (p.Lys1362=)
c.4017G= (p.Lys1339=)
c.3885G= (p.Lys1295=)
c.3753G= (p.Lys1251=)
20g.32436618G>TCA408564045ASXL1c.3906G>T (p.Lys1302Asn)
c.3723G>T (p.Lys1241Asn)
n.6259G>T
c.1870-1812G>T (n.1870-1812G>T)
c.3891G>T (p.Lys1297Asn)
c.3903G>T (p.Lys1301Asn)
c.3876G>T (p.Lys1292Asn)
c.3822G>T (p.Lys1274Asn)
c.3222G>T (p.Lys1074Asn)
c.4170G>T (p.Lys1390Asn)
c.4167G>T (p.Lys1389Asn)
c.4086G>T (p.Lys1362Asn)
c.4017G>T (p.Lys1339Asn)
c.3885G>T (p.Lys1295Asn)
c.3753G>T (p.Lys1251Asn)
20g.32436619A>CCA408564046ASXL1c.3907A>C (p.Lys1303Gln)
c.3724A>C (p.Lys1242Gln)
n.6260A>C
c.1870-1811A>C (n.1870-1811A>C)
c.3892A>C (p.Lys1298Gln)
c.3904A>C (p.Lys1302Gln)
c.3877A>C (p.Lys1293Gln)
c.3823A>C (p.Lys1275Gln)
c.3223A>C (p.Lys1075Gln)
c.4171A>C (p.Lys1391Gln)
c.4168A>C (p.Lys1390Gln)
c.4087A>C (p.Lys1363Gln)
c.4018A>C (p.Lys1340Gln)
c.3886A>C (p.Lys1296Gln)
c.3754A>C (p.Lys1252Gln)
 gnomAD v4
20g.32436619A>GCA408564047ASXL1c.3907A>G (p.Lys1303Glu)
c.3724A>G (p.Lys1242Glu)
n.6260A>G
c.1870-1811A>G (n.1870-1811A>G)
c.3892A>G (p.Lys1298Glu)
c.3904A>G (p.Lys1302Glu)
c.3877A>G (p.Lys1293Glu)
c.3823A>G (p.Lys1275Glu)
c.3223A>G (p.Lys1075Glu)
c.4171A>G (p.Lys1391Glu)
c.4168A>G (p.Lys1390Glu)
c.4087A>G (p.Lys1363Glu)
c.4018A>G (p.Lys1340Glu)
c.3886A>G (p.Lys1296Glu)
c.3754A>G (p.Lys1252Glu)
20g.32436619A>TCA408564048ASXL1c.3907A>T (p.Lys1303Ter)
c.3724A>T (p.Lys1242Ter)
n.6260A>T
c.1870-1811A>T (n.1870-1811A>T)
c.3892A>T (p.Lys1298Ter)
c.3904A>T (p.Lys1302Ter)
c.3877A>T (p.Lys1293Ter)
c.3823A>T (p.Lys1275Ter)
c.3223A>T (p.Lys1075Ter)
c.4171A>T (p.Lys1391Ter)
c.4168A>T (p.Lys1390Ter)
c.4087A>T (p.Lys1363Ter)
c.4018A>T (p.Lys1340Ter)
c.3886A>T (p.Lys1296Ter)
c.3754A>T (p.Lys1252Ter)
20g.32436620A>CCA408564050ASXL1c.3908A>C (p.Lys1303Thr)
c.3725A>C (p.Lys1242Thr)
n.6261A>C
c.1870-1810A>C (n.1870-1810A>C)
c.3893A>C (p.Lys1298Thr)
c.3905A>C (p.Lys1302Thr)
c.3878A>C (p.Lys1293Thr)
c.3824A>C (p.Lys1275Thr)
c.3224A>C (p.Lys1075Thr)
c.4172A>C (p.Lys1391Thr)
c.4169A>C (p.Lys1390Thr)
c.4088A>C (p.Lys1363Thr)
c.4019A>C (p.Lys1340Thr)
c.3887A>C (p.Lys1296Thr)
c.3755A>C (p.Lys1252Thr)
20g.32436620A>GCA408564051ASXL1c.3908A>G (p.Lys1303Arg)
c.3725A>G (p.Lys1242Arg)
n.6261A>G
c.1870-1810A>G (n.1870-1810A>G)
c.3893A>G (p.Lys1298Arg)
c.3905A>G (p.Lys1302Arg)
c.3878A>G (p.Lys1293Arg)
c.3824A>G (p.Lys1275Arg)
c.3224A>G (p.Lys1075Arg)
c.4172A>G (p.Lys1391Arg)
c.4169A>G (p.Lys1390Arg)
c.4088A>G (p.Lys1363Arg)
c.4019A>G (p.Lys1340Arg)
c.3887A>G (p.Lys1296Arg)
c.3755A>G (p.Lys1252Arg)
20g.32436620A>TCA408564049ASXL1c.3908A>T (p.Lys1303Met)
c.3725A>T (p.Lys1242Met)
n.6261A>T
c.1870-1810A>T (n.1870-1810A>T)
c.3893A>T (p.Lys1298Met)
c.3905A>T (p.Lys1302Met)
c.3878A>T (p.Lys1293Met)
c.3824A>T (p.Lys1275Met)
c.3224A>T (p.Lys1075Met)
c.4172A>T (p.Lys1391Met)
c.4169A>T (p.Lys1390Met)
c.4088A>T (p.Lys1363Met)
c.4019A>T (p.Lys1340Met)
c.3887A>T (p.Lys1296Met)
c.3755A>T (p.Lys1252Met)
20g.32436621G>ACA510467486ASXL1c.3909G>A (p.Lys1303=)
c.3726G>A (p.Lys1242=)
n.6262G>A
c.1870-1809G>A (n.1870-1809G>A)
c.3894G>A (p.Lys1298=)
c.3906G>A (p.Lys1302=)
c.3879G>A (p.Lys1293=)
c.3825G>A (p.Lys1275=)
c.3225G>A (p.Lys1075=)
c.4173G>A (p.Lys1391=)
c.4170G>A (p.Lys1390=)
c.4089G>A (p.Lys1363=)
c.4020G>A (p.Lys1340=)
c.3888G>A (p.Lys1296=)
c.3756G>A (p.Lys1252=)
 dbSNP
20g.32436621G>CCA408564052ASXL1c.3909G>C (p.Lys1303Asn)
c.3726G>C (p.Lys1242Asn)
n.6262G>C
c.1870-1809G>C (n.1870-1809G>C)
c.3894G>C (p.Lys1298Asn)
c.3906G>C (p.Lys1302Asn)
c.3879G>C (p.Lys1293Asn)
c.3825G>C (p.Lys1275Asn)
c.3225G>C (p.Lys1075Asn)
c.4173G>C (p.Lys1391Asn)
c.4170G>C (p.Lys1390Asn)
c.4089G>C (p.Lys1363Asn)
c.4020G>C (p.Lys1340Asn)
c.3888G>C (p.Lys1296Asn)
c.3756G>C (p.Lys1252Asn)
20g.32436621G=CA2360293790ASXL1c.3909G= (p.Lys1303=)
c.3726G= (p.Lys1242=)
n.6262G=
c.1870-1809G= (n.1870-1809G=)
c.3894G= (p.Lys1298=)
c.3906G= (p.Lys1302=)
c.3879G= (p.Lys1293=)
c.3825G= (p.Lys1275=)
c.3225G= (p.Lys1075=)
c.4173G= (p.Lys1391=)
c.4170G= (p.Lys1390=)
c.4089G= (p.Lys1363=)
c.4020G= (p.Lys1340=)
c.3888G= (p.Lys1296=)
c.3756G= (p.Lys1252=)
20g.32436621G>TCA408564053ASXL1c.3909G>T (p.Lys1303Asn)
c.3726G>T (p.Lys1242Asn)
n.6262G>T
c.1870-1809G>T (n.1870-1809G>T)
c.3894G>T (p.Lys1298Asn)
c.3906G>T (p.Lys1302Asn)
c.3879G>T (p.Lys1293Asn)
c.3825G>T (p.Lys1275Asn)
c.3225G>T (p.Lys1075Asn)
c.4173G>T (p.Lys1391Asn)
c.4170G>T (p.Lys1390Asn)
c.4089G>T (p.Lys1363Asn)
c.4020G>T (p.Lys1340Asn)
c.3888G>T (p.Lys1296Asn)
c.3756G>T (p.Lys1252Asn)
20g.32436622delCA2652401272ASXL1c.3910del (p.Leu1304PhefsTer?)
c.3727del (p.Leu1243PhefsTer?)
n.6263del
c.1870-1808del (n.1870-1808del)
c.3895del (p.Leu1299PhefsTer?)
c.3907del (p.Leu1303PhefsTer?)
c.3880del (p.Leu1294PhefsTer?)
c.3826del (p.Leu1276PhefsTer?)
c.3226del (p.Leu1076PhefsTer?)
c.4174del (p.Leu1392PhefsTer?)
c.4171del (p.Leu1391PhefsTer?)
c.4090del (p.Leu1364PhefsTer?)
c.4021del (p.Leu1341PhefsTer?)
c.3889del (p.Leu1297PhefsTer?)
c.3757del (p.Leu1253PhefsTer?)
 gnomAD v4
20g.32436622C>ACA9808923ASXL1c.3910C>A (p.Leu1304Ile)
c.3727C>A (p.Leu1243Ile)
n.6263C>A
c.1870-1808C>A (n.1870-1808C>A)
c.3895C>A (p.Leu1299Ile)
c.3907C>A (p.Leu1303Ile)
c.3880C>A (p.Leu1294Ile)
c.3826C>A (p.Leu1276Ile)
c.3226C>A (p.Leu1076Ile)
c.4174C>A (p.Leu1392Ile)
c.4171C>A (p.Leu1391Ile)
c.4090C>A (p.Leu1364Ile)
c.4021C>A (p.Leu1341Ile)
c.3889C>A (p.Leu1297Ile)
c.3757C>A (p.Leu1253Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436622C=CA2360293791ASXL1c.3910C= (p.Leu1304=)
c.3727C= (p.Leu1243=)
n.6263C=
c.1870-1808C= (n.1870-1808C=)
c.3895C= (p.Leu1299=)
c.3907C= (p.Leu1303=)
c.3880C= (p.Leu1294=)
c.3826C= (p.Leu1276=)
c.3226C= (p.Leu1076=)
c.4174C= (p.Leu1392=)
c.4171C= (p.Leu1391=)
c.4090C= (p.Leu1364=)
c.4021C= (p.Leu1341=)
c.3889C= (p.Leu1297=)
c.3757C= (p.Leu1253=)
20g.32436622C>GCA9808922ASXL1c.3910C>G (p.Leu1304Val)
c.3727C>G (p.Leu1243Val)
n.6263C>G
c.1870-1808C>G (n.1870-1808C>G)
c.3895C>G (p.Leu1299Val)
c.3907C>G (p.Leu1303Val)
c.3880C>G (p.Leu1294Val)
c.3826C>G (p.Leu1276Val)
c.3226C>G (p.Leu1076Val)
c.4174C>G (p.Leu1392Val)
c.4171C>G (p.Leu1391Val)
c.4090C>G (p.Leu1364Val)
c.4021C>G (p.Leu1341Val)
c.3889C>G (p.Leu1297Val)
c.3757C>G (p.Leu1253Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436622C>TCA408564054ASXL1c.3910C>T (p.Leu1304Phe)
c.3727C>T (p.Leu1243Phe)
n.6263C>T
c.1870-1808C>T (n.1870-1808C>T)
c.3895C>T (p.Leu1299Phe)
c.3907C>T (p.Leu1303Phe)
c.3880C>T (p.Leu1294Phe)
c.3826C>T (p.Leu1276Phe)
c.3226C>T (p.Leu1076Phe)
c.4174C>T (p.Leu1392Phe)
c.4171C>T (p.Leu1391Phe)
c.4090C>T (p.Leu1364Phe)
c.4021C>T (p.Leu1341Phe)
c.3889C>T (p.Leu1297Phe)
c.3757C>T (p.Leu1253Phe)
20g.32436623T>ACA408564055ASXL1c.3911T>A (p.Leu1304His)
c.3728T>A (p.Leu1243His)
n.6264T>A
c.1870-1807T>A (n.1870-1807T>A)
c.3896T>A (p.Leu1299His)
c.3908T>A (p.Leu1303His)
c.3881T>A (p.Leu1294His)
c.3827T>A (p.Leu1276His)
c.3227T>A (p.Leu1076His)
c.4175T>A (p.Leu1392His)
c.4172T>A (p.Leu1391His)
c.4091T>A (p.Leu1364His)
c.4022T>A (p.Leu1341His)
c.3890T>A (p.Leu1297His)
c.3758T>A (p.Leu1253His)
 COSMIC COSMIC
20g.32436623T>CCA408564056ASXL1c.3911T>C (p.Leu1304Pro)
c.3728T>C (p.Leu1243Pro)
n.6264T>C
c.1870-1807T>C (n.1870-1807T>C)
c.3896T>C (p.Leu1299Pro)
c.3908T>C (p.Leu1303Pro)
c.3881T>C (p.Leu1294Pro)
c.3827T>C (p.Leu1276Pro)
c.3227T>C (p.Leu1076Pro)
c.4175T>C (p.Leu1392Pro)
c.4172T>C (p.Leu1391Pro)
c.4091T>C (p.Leu1364Pro)
c.4022T>C (p.Leu1341Pro)
c.3890T>C (p.Leu1297Pro)
c.3758T>C (p.Leu1253Pro)
20g.32436623T>GCA408564057ASXL1c.3911T>G (p.Leu1304Arg)
c.3728T>G (p.Leu1243Arg)
n.6264T>G
c.1870-1807T>G (n.1870-1807T>G)
c.3896T>G (p.Leu1299Arg)
c.3908T>G (p.Leu1303Arg)
c.3881T>G (p.Leu1294Arg)
c.3827T>G (p.Leu1276Arg)
c.3227T>G (p.Leu1076Arg)
c.4175T>G (p.Leu1392Arg)
c.4172T>G (p.Leu1391Arg)
c.4091T>G (p.Leu1364Arg)
c.4022T>G (p.Leu1341Arg)
c.3890T>G (p.Leu1297Arg)
c.3758T>G (p.Leu1253Arg)
20g.32436627delCA2652401274ASXL1c.3915del (p.Phe1305LeufsTer?)
c.3732del (p.Phe1244LeufsTer?)
n.6268del
c.1870-1803del (n.1870-1803del)
c.3900del (p.Phe1300LeufsTer?)
c.3912del (p.Phe1304LeufsTer?)
c.3885del (p.Phe1295LeufsTer?)
c.3831del (p.Phe1277LeufsTer?)
c.3231del (p.Phe1077LeufsTer?)
c.4179del (p.Phe1393LeufsTer?)
c.4176del (p.Phe1392LeufsTer?)
c.4095del (p.Phe1365LeufsTer?)
c.4026del (p.Phe1342LeufsTer?)
c.3894del (p.Phe1298LeufsTer?)
c.3762del (p.Phe1254LeufsTer?)
 dbSNP gnomAD v4
20g.32436626_32436627delCA2652401273ASXL1c.3914_3915del (p.Phe1305TrpfsTer23)
c.3731_3732del (p.Phe1244TrpfsTer23)
n.6267_6268del
c.1870-1804_1870-1803del (n.1870-1804_1870-1803del)
c.3899_3900del (p.Phe1300TrpfsTer23)
c.3911_3912del (p.Phe1304TrpfsTer23)
c.3884_3885del (p.Phe1295TrpfsTer23)
c.3830_3831del (p.Phe1277TrpfsTer23)
c.3230_3231del (p.Phe1077TrpfsTer23)
c.4178_4179del (p.Phe1393TrpfsTer23)
c.4175_4176del (p.Phe1392TrpfsTer23)
c.4094_4095del (p.Phe1365TrpfsTer23)
c.4025_4026del (p.Phe1342TrpfsTer23)
c.3893_3894del (p.Phe1298TrpfsTer23)
c.3761_3762del (p.Phe1254TrpfsTer23)
 gnomAD v4
20g.32436624T>ACA510467487ASXL1c.3912T>A (p.Leu1304=)
c.3729T>A (p.Leu1243=)
n.6265T>A
c.1870-1806T>A (n.1870-1806T>A)
c.3897T>A (p.Leu1299=)
c.3909T>A (p.Leu1303=)
c.3882T>A (p.Leu1294=)
c.3828T>A (p.Leu1276=)
c.3228T>A (p.Leu1076=)
c.4176T>A (p.Leu1392=)
c.4173T>A (p.Leu1391=)
c.4092T>A (p.Leu1364=)
c.4023T>A (p.Leu1341=)
c.3891T>A (p.Leu1297=)
c.3759T>A (p.Leu1253=)
20g.32436624T>CCA9808924ASXL1c.3912T>C (p.Leu1304=)
c.3729T>C (p.Leu1243=)
n.6265T>C
c.1870-1806T>C (n.1870-1806T>C)
c.3897T>C (p.Leu1299=)
c.3909T>C (p.Leu1303=)
c.3882T>C (p.Leu1294=)
c.3828T>C (p.Leu1276=)
c.3228T>C (p.Leu1076=)
c.4176T>C (p.Leu1392=)
c.4173T>C (p.Leu1391=)
c.4092T>C (p.Leu1364=)
c.4023T>C (p.Leu1341=)
c.3891T>C (p.Leu1297=)
c.3759T>C (p.Leu1253=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436624T>GCA510467488ASXL1c.3912T>G (p.Leu1304=)
c.3729T>G (p.Leu1243=)
n.6265T>G
c.1870-1806T>G (n.1870-1806T>G)
c.3897T>G (p.Leu1299=)
c.3909T>G (p.Leu1303=)
c.3882T>G (p.Leu1294=)
c.3828T>G (p.Leu1276=)
c.3228T>G (p.Leu1076=)
c.4176T>G (p.Leu1392=)
c.4173T>G (p.Leu1391=)
c.4092T>G (p.Leu1364=)
c.4023T>G (p.Leu1341=)
c.3891T>G (p.Leu1297=)
c.3759T>G (p.Leu1253=)
20g.32436624T=CA2360293792ASXL1c.3912T= (p.Leu1304=)
c.3729T= (p.Leu1243=)
n.6265T=
c.1870-1806T= (n.1870-1806T=)
c.3897T= (p.Leu1299=)
c.3909T= (p.Leu1303=)
c.3882T= (p.Leu1294=)
c.3828T= (p.Leu1276=)
c.3228T= (p.Leu1076=)
c.4176T= (p.Leu1392=)
c.4173T= (p.Leu1391=)
c.4092T= (p.Leu1364=)
c.4023T= (p.Leu1341=)
c.3891T= (p.Leu1297=)
c.3759T= (p.Leu1253=)
20g.32436625T>ACA408564058ASXL1c.3913T>A (p.Phe1305Ile)
c.3730T>A (p.Phe1244Ile)
n.6266T>A
c.1870-1805T>A (n.1870-1805T>A)
c.3898T>A (p.Phe1300Ile)
c.3910T>A (p.Phe1304Ile)
c.3883T>A (p.Phe1295Ile)
c.3829T>A (p.Phe1277Ile)
c.3229T>A (p.Phe1077Ile)
c.4177T>A (p.Phe1393Ile)
c.4174T>A (p.Phe1392Ile)
c.4093T>A (p.Phe1365Ile)
c.4024T>A (p.Phe1342Ile)
c.3892T>A (p.Phe1298Ile)
c.3760T>A (p.Phe1254Ile)
20g.32436625T>CCA408564059ASXL1c.3913T>C (p.Phe1305Leu)
c.3730T>C (p.Phe1244Leu)
n.6266T>C
c.1870-1805T>C (n.1870-1805T>C)
c.3898T>C (p.Phe1300Leu)
c.3910T>C (p.Phe1304Leu)
c.3883T>C (p.Phe1295Leu)
c.3829T>C (p.Phe1277Leu)
c.3229T>C (p.Phe1077Leu)
c.4177T>C (p.Phe1393Leu)
c.4174T>C (p.Phe1392Leu)
c.4093T>C (p.Phe1365Leu)
c.4024T>C (p.Phe1342Leu)
c.3892T>C (p.Phe1298Leu)
c.3760T>C (p.Phe1254Leu)
 dbSNP gnomAD v4
20g.32436625T>GCA408564060ASXL1c.3913T>G (p.Phe1305Val)
c.3730T>G (p.Phe1244Val)
n.6266T>G
c.1870-1805T>G (n.1870-1805T>G)
c.3898T>G (p.Phe1300Val)
c.3910T>G (p.Phe1304Val)
c.3883T>G (p.Phe1295Val)
c.3829T>G (p.Phe1277Val)
c.3229T>G (p.Phe1077Val)
c.4177T>G (p.Phe1393Val)
c.4174T>G (p.Phe1392Val)
c.4093T>G (p.Phe1365Val)
c.4024T>G (p.Phe1342Val)
c.3892T>G (p.Phe1298Val)
c.3760T>G (p.Phe1254Val)
20g.32436625T=CA2360293793ASXL1c.3913T= (p.Phe1305=)
c.3730T= (p.Phe1244=)
n.6266T=
c.1870-1805T= (n.1870-1805T=)
c.3898T= (p.Phe1300=)
c.3910T= (p.Phe1304=)
c.3883T= (p.Phe1295=)
c.3829T= (p.Phe1277=)
c.3229T= (p.Phe1077=)
c.4177T= (p.Phe1393=)
c.4174T= (p.Phe1392=)
c.4093T= (p.Phe1365=)
c.4024T= (p.Phe1342=)
c.3892T= (p.Phe1298=)
c.3760T= (p.Phe1254=)
20g.32436626T>ACA10652454ASXL1c.3914T>A (p.Phe1305Tyr)
c.3731T>A (p.Phe1244Tyr)
n.6267T>A
c.1870-1804T>A (n.1870-1804T>A)
c.3899T>A (p.Phe1300Tyr)
c.3911T>A (p.Phe1304Tyr)
c.3884T>A (p.Phe1295Tyr)
c.3830T>A (p.Phe1277Tyr)
c.3230T>A (p.Phe1077Tyr)
c.4178T>A (p.Phe1393Tyr)
c.4175T>A (p.Phe1392Tyr)
c.4094T>A (p.Phe1365Tyr)
c.4025T>A (p.Phe1342Tyr)
c.3893T>A (p.Phe1298Tyr)
c.3761T>A (p.Phe1254Tyr)
 dbSNP
20g.32436626T>CCA9808925ASXL1c.3914T>C (p.Phe1305Ser)
c.3731T>C (p.Phe1244Ser)
n.6267T>C
c.1870-1804T>C (n.1870-1804T>C)
c.3899T>C (p.Phe1300Ser)
c.3911T>C (p.Phe1304Ser)
c.3884T>C (p.Phe1295Ser)
c.3830T>C (p.Phe1277Ser)
c.3230T>C (p.Phe1077Ser)
c.4178T>C (p.Phe1393Ser)
c.4175T>C (p.Phe1392Ser)
c.4094T>C (p.Phe1365Ser)
c.4025T>C (p.Phe1342Ser)
c.3893T>C (p.Phe1298Ser)
c.3761T>C (p.Phe1254Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436626T>GCA408564061ASXL1c.3914T>G (p.Phe1305Cys)
c.3731T>G (p.Phe1244Cys)
n.6267T>G
c.1870-1804T>G (n.1870-1804T>G)
c.3899T>G (p.Phe1300Cys)
c.3911T>G (p.Phe1304Cys)
c.3884T>G (p.Phe1295Cys)
c.3830T>G (p.Phe1277Cys)
c.3230T>G (p.Phe1077Cys)
c.4178T>G (p.Phe1393Cys)
c.4175T>G (p.Phe1392Cys)
c.4094T>G (p.Phe1365Cys)
c.4025T>G (p.Phe1342Cys)
c.3893T>G (p.Phe1298Cys)
c.3761T>G (p.Phe1254Cys)
 ClinVar
20g.32436626T=CA2360293794ASXL1c.3914T= (p.Phe1305=)
c.3731T= (p.Phe1244=)
n.6267T=
c.1870-1804T= (n.1870-1804T=)
c.3899T= (p.Phe1300=)
c.3911T= (p.Phe1304=)
c.3884T= (p.Phe1295=)
c.3830T= (p.Phe1277=)
c.3230T= (p.Phe1077=)
c.4178T= (p.Phe1393=)
c.4175T= (p.Phe1392=)
c.4094T= (p.Phe1365=)
c.4025T= (p.Phe1342=)
c.3893T= (p.Phe1298=)
c.3761T= (p.Phe1254=)
20g.32436627T>ACA408564062ASXL1c.3915T>A (p.Phe1305Leu)
c.3732T>A (p.Phe1244Leu)
n.6268T>A
c.1870-1803T>A (n.1870-1803T>A)
c.3900T>A (p.Phe1300Leu)
c.3912T>A (p.Phe1304Leu)
c.3885T>A (p.Phe1295Leu)
c.3831T>A (p.Phe1277Leu)
c.3231T>A (p.Phe1077Leu)
c.4179T>A (p.Phe1393Leu)
c.4176T>A (p.Phe1392Leu)
c.4095T>A (p.Phe1365Leu)
c.4026T>A (p.Phe1342Leu)
c.3894T>A (p.Phe1298Leu)
c.3762T>A (p.Phe1254Leu)
20g.32436627T>CCA510467489ASXL1c.3915T>C (p.Phe1305=)
c.3732T>C (p.Phe1244=)
n.6268T>C
c.1870-1803T>C (n.1870-1803T>C)
c.3900T>C (p.Phe1300=)
c.3912T>C (p.Phe1304=)
c.3885T>C (p.Phe1295=)
c.3831T>C (p.Phe1277=)
c.3231T>C (p.Phe1077=)
c.4179T>C (p.Phe1393=)
c.4176T>C (p.Phe1392=)
c.4095T>C (p.Phe1365=)
c.4026T>C (p.Phe1342=)
c.3894T>C (p.Phe1298=)
c.3762T>C (p.Phe1254=)
20g.32436627T>GCA408564063ASXL1c.3915T>G (p.Phe1305Leu)
c.3732T>G (p.Phe1244Leu)
n.6268T>G
c.1870-1803T>G (n.1870-1803T>G)
c.3900T>G (p.Phe1300Leu)
c.3912T>G (p.Phe1304Leu)
c.3885T>G (p.Phe1295Leu)
c.3831T>G (p.Phe1277Leu)
c.3231T>G (p.Phe1077Leu)
c.4179T>G (p.Phe1393Leu)
c.4176T>G (p.Phe1392Leu)
c.4095T>G (p.Phe1365Leu)
c.4026T>G (p.Phe1342Leu)
c.3894T>G (p.Phe1298Leu)
c.3762T>G (p.Phe1254Leu)
 ClinVar dbSNP
20g.32436628G>ACA408564064ASXL1c.3916G>A (p.Gly1306Ser)
c.3733G>A (p.Gly1245Ser)
n.6269G>A
c.1870-1802G>A (n.1870-1802G>A)
c.3901G>A (p.Gly1301Ser)
c.3913G>A (p.Gly1305Ser)
c.3886G>A (p.Gly1296Ser)
c.3832G>A (p.Gly1278Ser)
c.3232G>A (p.Gly1078Ser)
c.4180G>A (p.Gly1394Ser)
c.4177G>A (p.Gly1393Ser)
c.4096G>A (p.Gly1366Ser)
c.4027G>A (p.Gly1343Ser)
c.3895G>A (p.Gly1299Ser)
c.3763G>A (p.Gly1255Ser)
20g.32436628G>CCA408564065ASXL1c.3916G>C (p.Gly1306Arg)
c.3733G>C (p.Gly1245Arg)
n.6269G>C
c.1870-1802G>C (n.1870-1802G>C)
c.3901G>C (p.Gly1301Arg)
c.3913G>C (p.Gly1305Arg)
c.3886G>C (p.Gly1296Arg)
c.3832G>C (p.Gly1278Arg)
c.3232G>C (p.Gly1078Arg)
c.4180G>C (p.Gly1394Arg)
c.4177G>C (p.Gly1393Arg)
c.4096G>C (p.Gly1366Arg)
c.4027G>C (p.Gly1343Arg)
c.3895G>C (p.Gly1299Arg)
c.3763G>C (p.Gly1255Arg)
20g.32436628G>TCA408564066ASXL1c.3916G>T (p.Gly1306Cys)
c.3733G>T (p.Gly1245Cys)
n.6269G>T
c.1870-1802G>T (n.1870-1802G>T)
c.3901G>T (p.Gly1301Cys)
c.3913G>T (p.Gly1305Cys)
c.3886G>T (p.Gly1296Cys)
c.3832G>T (p.Gly1278Cys)
c.3232G>T (p.Gly1078Cys)
c.4180G>T (p.Gly1394Cys)
c.4177G>T (p.Gly1393Cys)
c.4096G>T (p.Gly1366Cys)
c.4027G>T (p.Gly1343Cys)
c.3895G>T (p.Gly1299Cys)
c.3763G>T (p.Gly1255Cys)
20g.32436629G>ACA9808926ASXL1c.3917G>A (p.Gly1306Asp)
c.3734G>A (p.Gly1245Asp)
n.6270G>A
c.1870-1801G>A (n.1870-1801G>A)
c.3902G>A (p.Gly1301Asp)
c.3914G>A (p.Gly1305Asp)
c.3887G>A (p.Gly1296Asp)
c.3833G>A (p.Gly1278Asp)
c.3233G>A (p.Gly1078Asp)
c.4181G>A (p.Gly1394Asp)
c.4178G>A (p.Gly1393Asp)
c.4097G>A (p.Gly1366Asp)
c.4028G>A (p.Gly1343Asp)
c.3896G>A (p.Gly1299Asp)
c.3764G>A (p.Gly1255Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436629G>CCA408564067ASXL1c.3917G>C (p.Gly1306Ala)
c.3734G>C (p.Gly1245Ala)
n.6270G>C
c.1870-1801G>C (n.1870-1801G>C)
c.3902G>C (p.Gly1301Ala)
c.3914G>C (p.Gly1305Ala)
c.3887G>C (p.Gly1296Ala)
c.3833G>C (p.Gly1278Ala)
c.3233G>C (p.Gly1078Ala)
c.4181G>C (p.Gly1394Ala)
c.4178G>C (p.Gly1393Ala)
c.4097G>C (p.Gly1366Ala)
c.4028G>C (p.Gly1343Ala)
c.3896G>C (p.Gly1299Ala)
c.3764G>C (p.Gly1255Ala)
20g.32436629G=CA2360293795ASXL1c.3917G= (p.Gly1306=)
c.3734G= (p.Gly1245=)
n.6270G=
c.1870-1801G= (n.1870-1801G=)
c.3902G= (p.Gly1301=)
c.3914G= (p.Gly1305=)
c.3887G= (p.Gly1296=)
c.3833G= (p.Gly1278=)
c.3233G= (p.Gly1078=)
c.4181G= (p.Gly1394=)
c.4178G= (p.Gly1393=)
c.4097G= (p.Gly1366=)
c.4028G= (p.Gly1343=)
c.3896G= (p.Gly1299=)
c.3764G= (p.Gly1255=)
20g.32436629G>TCA313926367ASXL1c.3917G>T (p.Gly1306Val)
c.3734G>T (p.Gly1245Val)
n.6270G>T
c.1870-1801G>T (n.1870-1801G>T)
c.3902G>T (p.Gly1301Val)
c.3914G>T (p.Gly1305Val)
c.3887G>T (p.Gly1296Val)
c.3833G>T (p.Gly1278Val)
c.3233G>T (p.Gly1078Val)
c.4181G>T (p.Gly1394Val)
c.4178G>T (p.Gly1393Val)
c.4097G>T (p.Gly1366Val)
c.4028G>T (p.Gly1343Val)
c.3896G>T (p.Gly1299Val)
c.3764G>T (p.Gly1255Val)
 dbSNP gnomAD v3 gnomAD v4
20g.32436630C>ACA510467490ASXL1c.3918C>A (p.Gly1306=)
c.3735C>A (p.Gly1245=)
n.6271C>A
c.1870-1800C>A (n.1870-1800C>A)
c.3903C>A (p.Gly1301=)
c.3915C>A (p.Gly1305=)
c.3888C>A (p.Gly1296=)
c.3834C>A (p.Gly1278=)
c.3234C>A (p.Gly1078=)
c.4182C>A (p.Gly1394=)
c.4179C>A (p.Gly1393=)
c.4098C>A (p.Gly1366=)
c.4029C>A (p.Gly1343=)
c.3897C>A (p.Gly1299=)
c.3765C>A (p.Gly1255=)
20g.32436630C=CA2360293796ASXL1c.3918C= (p.Gly1306=)
c.3735C= (p.Gly1245=)
n.6271C=
c.1870-1800C= (n.1870-1800C=)
c.3903C= (p.Gly1301=)
c.3915C= (p.Gly1305=)
c.3888C= (p.Gly1296=)
c.3834C= (p.Gly1278=)
c.3234C= (p.Gly1078=)
c.4182C= (p.Gly1394=)
c.4179C= (p.Gly1393=)
c.4098C= (p.Gly1366=)
c.4029C= (p.Gly1343=)
c.3897C= (p.Gly1299=)
c.3765C= (p.Gly1255=)
20g.32436630C>GCA510467492ASXL1c.3918C>G (p.Gly1306=)
c.3735C>G (p.Gly1245=)
n.6271C>G
c.1870-1800C>G (n.1870-1800C>G)
c.3903C>G (p.Gly1301=)
c.3915C>G (p.Gly1305=)
c.3888C>G (p.Gly1296=)
c.3834C>G (p.Gly1278=)
c.3234C>G (p.Gly1078=)
c.4182C>G (p.Gly1394=)
c.4179C>G (p.Gly1393=)
c.4098C>G (p.Gly1366=)
c.4029C>G (p.Gly1343=)
c.3897C>G (p.Gly1299=)
c.3765C>G (p.Gly1255=)
20g.32436630C>TCA510467491ASXL1c.3918C>T (p.Gly1306=)
c.3735C>T (p.Gly1245=)
n.6271C>T
c.1870-1800C>T (n.1870-1800C>T)
c.3903C>T (p.Gly1301=)
c.3915C>T (p.Gly1305=)
c.3888C>T (p.Gly1296=)
c.3834C>T (p.Gly1278=)
c.3234C>T (p.Gly1078=)
c.4182C>T (p.Gly1394=)
c.4179C>T (p.Gly1393=)
c.4098C>T (p.Gly1366=)
c.4029C>T (p.Gly1343=)
c.3897C>T (p.Gly1299=)
c.3765C>T (p.Gly1255=)
 dbSNP gnomAD v4
20g.32436631T>ACA408564068ASXL1c.3919T>A (p.Ser1307Thr)
c.3736T>A (p.Ser1246Thr)
n.6272T>A
c.1870-1799T>A (n.1870-1799T>A)
c.3904T>A (p.Ser1302Thr)
c.3916T>A (p.Ser1306Thr)
c.3889T>A (p.Ser1297Thr)
c.3835T>A (p.Ser1279Thr)
c.3235T>A (p.Ser1079Thr)
c.4183T>A (p.Ser1395Thr)
c.4180T>A (p.Ser1394Thr)
c.4099T>A (p.Ser1367Thr)
c.4030T>A (p.Ser1344Thr)
c.3898T>A (p.Ser1300Thr)
c.3766T>A (p.Ser1256Thr)
20g.32436631T>CCA408564069ASXL1c.3919T>C (p.Ser1307Pro)
c.3736T>C (p.Ser1246Pro)
n.6272T>C
c.1870-1799T>C (n.1870-1799T>C)
c.3904T>C (p.Ser1302Pro)
c.3916T>C (p.Ser1306Pro)
c.3889T>C (p.Ser1297Pro)
c.3835T>C (p.Ser1279Pro)
c.3235T>C (p.Ser1079Pro)
c.4183T>C (p.Ser1395Pro)
c.4180T>C (p.Ser1394Pro)
c.4099T>C (p.Ser1367Pro)
c.4030T>C (p.Ser1344Pro)
c.3898T>C (p.Ser1300Pro)
c.3766T>C (p.Ser1256Pro)
 gnomAD v4
20g.32436631T>GCA408564070ASXL1c.3919T>G (p.Ser1307Ala)
c.3736T>G (p.Ser1246Ala)
n.6272T>G
c.1870-1799T>G (n.1870-1799T>G)
c.3904T>G (p.Ser1302Ala)
c.3916T>G (p.Ser1306Ala)
c.3889T>G (p.Ser1297Ala)
c.3835T>G (p.Ser1279Ala)
c.3235T>G (p.Ser1079Ala)
c.4183T>G (p.Ser1395Ala)
c.4180T>G (p.Ser1394Ala)
c.4099T>G (p.Ser1367Ala)
c.4030T>G (p.Ser1344Ala)
c.3898T>G (p.Ser1300Ala)
c.3766T>G (p.Ser1256Ala)
20g.32436632C>ACA408564071ASXL1c.3920C>A (p.Ser1307Tyr)
c.3737C>A (p.Ser1246Tyr)
n.6273C>A
c.1870-1798C>A (n.1870-1798C>A)
c.3905C>A (p.Ser1302Tyr)
c.3917C>A (p.Ser1306Tyr)
c.3890C>A (p.Ser1297Tyr)
c.3836C>A (p.Ser1279Tyr)
c.3236C>A (p.Ser1079Tyr)
c.4184C>A (p.Ser1395Tyr)
c.4181C>A (p.Ser1394Tyr)
c.4100C>A (p.Ser1367Tyr)
c.4031C>A (p.Ser1344Tyr)
c.3899C>A (p.Ser1300Tyr)
c.3767C>A (p.Ser1256Tyr)
20g.32436632C>GCA408564072ASXL1c.3920C>G (p.Ser1307Cys)
c.3737C>G (p.Ser1246Cys)
n.6273C>G
c.1870-1798C>G (n.1870-1798C>G)
c.3905C>G (p.Ser1302Cys)
c.3917C>G (p.Ser1306Cys)
c.3890C>G (p.Ser1297Cys)
c.3836C>G (p.Ser1279Cys)
c.3236C>G (p.Ser1079Cys)
c.4184C>G (p.Ser1395Cys)
c.4181C>G (p.Ser1394Cys)
c.4100C>G (p.Ser1367Cys)
c.4031C>G (p.Ser1344Cys)
c.3899C>G (p.Ser1300Cys)
c.3767C>G (p.Ser1256Cys)
20g.32436632C>TCA408564073ASXL1c.3920C>T (p.Ser1307Phe)
c.3737C>T (p.Ser1246Phe)
n.6273C>T
c.1870-1798C>T (n.1870-1798C>T)
c.3905C>T (p.Ser1302Phe)
c.3917C>T (p.Ser1306Phe)
c.3890C>T (p.Ser1297Phe)
c.3836C>T (p.Ser1279Phe)
c.3236C>T (p.Ser1079Phe)
c.4184C>T (p.Ser1395Phe)
c.4181C>T (p.Ser1394Phe)
c.4100C>T (p.Ser1367Phe)
c.4031C>T (p.Ser1344Phe)
c.3899C>T (p.Ser1300Phe)
c.3767C>T (p.Ser1256Phe)
20g.32436633T>ACA510467493ASXL1c.3921T>A (p.Ser1307=)
c.3738T>A (p.Ser1246=)
n.6274T>A
c.1870-1797T>A (n.1870-1797T>A)
c.3906T>A (p.Ser1302=)
c.3918T>A (p.Ser1306=)
c.3891T>A (p.Ser1297=)
c.3837T>A (p.Ser1279=)
c.3237T>A (p.Ser1079=)
c.4185T>A (p.Ser1395=)
c.4182T>A (p.Ser1394=)
c.4101T>A (p.Ser1367=)
c.4032T>A (p.Ser1344=)
c.3900T>A (p.Ser1300=)
c.3768T>A (p.Ser1256=)
20g.32436633T>CCA510467494ASXL1c.3921T>C (p.Ser1307=)
c.3738T>C (p.Ser1246=)
n.6274T>C
c.1870-1797T>C (n.1870-1797T>C)
c.3906T>C (p.Ser1302=)
c.3918T>C (p.Ser1306=)
c.3891T>C (p.Ser1297=)
c.3837T>C (p.Ser1279=)
c.3237T>C (p.Ser1079=)
c.4185T>C (p.Ser1395=)
c.4182T>C (p.Ser1394=)
c.4101T>C (p.Ser1367=)
c.4032T>C (p.Ser1344=)
c.3900T>C (p.Ser1300=)
c.3768T>C (p.Ser1256=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436633T>GCA510467495ASXL1c.3921T>G (p.Ser1307=)
c.3738T>G (p.Ser1246=)
n.6274T>G
c.1870-1797T>G (n.1870-1797T>G)
c.3906T>G (p.Ser1302=)
c.3918T>G (p.Ser1306=)
c.3891T>G (p.Ser1297=)
c.3837T>G (p.Ser1279=)
c.3237T>G (p.Ser1079=)
c.4185T>G (p.Ser1395=)
c.4182T>G (p.Ser1394=)
c.4101T>G (p.Ser1367=)
c.4032T>G (p.Ser1344=)
c.3900T>G (p.Ser1300=)
c.3768T>G (p.Ser1256=)
20g.32436633T=CA2360293797ASXL1c.3921T= (p.Ser1307=)
c.3738T= (p.Ser1246=)
n.6274T=
c.1870-1797T= (n.1870-1797T=)
c.3906T= (p.Ser1302=)
c.3918T= (p.Ser1306=)
c.3891T= (p.Ser1297=)
c.3837T= (p.Ser1279=)
c.3237T= (p.Ser1079=)
c.4185T= (p.Ser1395=)
c.4182T= (p.Ser1394=)
c.4101T= (p.Ser1367=)
c.4032T= (p.Ser1344=)
c.3900T= (p.Ser1300=)
c.3768T= (p.Ser1256=)
20g.32436636_32436643delCA2695202520ASXL1c.3924_3931del (p.Asn1309CysfsTer17)
c.3741_3748del (p.Asn1248CysfsTer17)
n.6277_6284del
c.1870-1794_1870-1787del (n.1870-1794_1870-1787del)
c.3909_3916del (p.Asn1304CysfsTer17)
c.3921_3928del (p.Asn1308CysfsTer17)
c.3894_3901del (p.Asn1299CysfsTer17)
c.3840_3847del (p.Asn1281CysfsTer17)
c.3240_3247del (p.Asn1081CysfsTer17)
c.4188_4195del (p.Asn1397CysfsTer17)
c.4185_4192del (p.Asn1396CysfsTer17)
c.4104_4111del (p.Asn1369CysfsTer17)
c.4035_4042del (p.Asn1346CysfsTer17)
c.3903_3910del (p.Asn1302CysfsTer17)
c.3771_3778del (p.Asn1258CysfsTer17)
20g.32436634G>ACA408564074ASXL1c.3922G>A (p.Gly1308Arg)
c.3739G>A (p.Gly1247Arg)
n.6275G>A
c.1870-1796G>A (n.1870-1796G>A)
c.3907G>A (p.Gly1303Arg)
c.3919G>A (p.Gly1307Arg)
c.3892G>A (p.Gly1298Arg)
c.3838G>A (p.Gly1280Arg)
c.3238G>A (p.Gly1080Arg)
c.4186G>A (p.Gly1396Arg)
c.4183G>A (p.Gly1395Arg)
c.4102G>A (p.Gly1368Arg)
c.4033G>A (p.Gly1345Arg)
c.3901G>A (p.Gly1301Arg)
c.3769G>A (p.Gly1257Arg)
 gnomAD v4
20g.32436634G>CCA408564076ASXL1c.3922G>C (p.Gly1308Arg)
c.3739G>C (p.Gly1247Arg)
n.6275G>C
c.1870-1796G>C (n.1870-1796G>C)
c.3907G>C (p.Gly1303Arg)
c.3919G>C (p.Gly1307Arg)
c.3892G>C (p.Gly1298Arg)
c.3838G>C (p.Gly1280Arg)
c.3238G>C (p.Gly1080Arg)
c.4186G>C (p.Gly1396Arg)
c.4183G>C (p.Gly1395Arg)
c.4102G>C (p.Gly1368Arg)
c.4033G>C (p.Gly1345Arg)
c.3901G>C (p.Gly1301Arg)
c.3769G>C (p.Gly1257Arg)
20g.32436634G>TCA408564075ASXL1c.3922G>T (p.Gly1308Trp)
c.3739G>T (p.Gly1247Trp)
n.6275G>T
c.1870-1796G>T (n.1870-1796G>T)
c.3907G>T (p.Gly1303Trp)
c.3919G>T (p.Gly1307Trp)
c.3892G>T (p.Gly1298Trp)
c.3838G>T (p.Gly1280Trp)
c.3238G>T (p.Gly1080Trp)
c.4186G>T (p.Gly1396Trp)
c.4183G>T (p.Gly1395Trp)
c.4102G>T (p.Gly1368Trp)
c.4033G>T (p.Gly1345Trp)
c.3901G>T (p.Gly1301Trp)
c.3769G>T (p.Gly1257Trp)
20g.32436635G>ACA408564077ASXL1c.3923G>A (p.Gly1308Glu)
c.3740G>A (p.Gly1247Glu)
n.6276G>A
c.1870-1795G>A (n.1870-1795G>A)
c.3908G>A (p.Gly1303Glu)
c.3920G>A (p.Gly1307Glu)
c.3893G>A (p.Gly1298Glu)
c.3839G>A (p.Gly1280Glu)
c.3239G>A (p.Gly1080Glu)
c.4187G>A (p.Gly1396Glu)
c.4184G>A (p.Gly1395Glu)
c.4103G>A (p.Gly1368Glu)
c.4034G>A (p.Gly1345Glu)
c.3902G>A (p.Gly1301Glu)
c.3770G>A (p.Gly1257Glu)
 dbSNP
20g.32436635G>CCA408564079ASXL1c.3923G>C (p.Gly1308Ala)
c.3740G>C (p.Gly1247Ala)
n.6276G>C
c.1870-1795G>C (n.1870-1795G>C)
c.3908G>C (p.Gly1303Ala)
c.3920G>C (p.Gly1307Ala)
c.3893G>C (p.Gly1298Ala)
c.3839G>C (p.Gly1280Ala)
c.3239G>C (p.Gly1080Ala)
c.4187G>C (p.Gly1396Ala)
c.4184G>C (p.Gly1395Ala)
c.4103G>C (p.Gly1368Ala)
c.4034G>C (p.Gly1345Ala)
c.3902G>C (p.Gly1301Ala)
c.3770G>C (p.Gly1257Ala)
20g.32436635G=CA2360293798ASXL1c.3923G= (p.Gly1308=)
c.3740G= (p.Gly1247=)
n.6276G=
c.1870-1795G= (n.1870-1795G=)
c.3908G= (p.Gly1303=)
c.3920G= (p.Gly1307=)
c.3893G= (p.Gly1298=)
c.3839G= (p.Gly1280=)
c.3239G= (p.Gly1080=)
c.4187G= (p.Gly1396=)
c.4184G= (p.Gly1395=)
c.4103G= (p.Gly1368=)
c.4034G= (p.Gly1345=)
c.3902G= (p.Gly1301=)
c.3770G= (p.Gly1257=)
20g.32436635G>TCA408564078ASXL1c.3923G>T (p.Gly1308Val)
c.3740G>T (p.Gly1247Val)
n.6276G>T
c.1870-1795G>T (n.1870-1795G>T)
c.3908G>T (p.Gly1303Val)
c.3920G>T (p.Gly1307Val)
c.3893G>T (p.Gly1298Val)
c.3839G>T (p.Gly1280Val)
c.3239G>T (p.Gly1080Val)
c.4187G>T (p.Gly1396Val)
c.4184G>T (p.Gly1395Val)
c.4103G>T (p.Gly1368Val)
c.4034G>T (p.Gly1345Val)
c.3902G>T (p.Gly1301Val)
c.3770G>T (p.Gly1257Val)
 dbSNP
20g.32436636G>ACA510467496ASXL1c.3924G>A (p.Gly1308=)
c.3741G>A (p.Gly1247=)
n.6277G>A
c.1870-1794G>A (n.1870-1794G>A)
c.3909G>A (p.Gly1303=)
c.3921G>A (p.Gly1307=)
c.3894G>A (p.Gly1298=)
c.3840G>A (p.Gly1280=)
c.3240G>A (p.Gly1080=)
c.4188G>A (p.Gly1396=)
c.4185G>A (p.Gly1395=)
c.4104G>A (p.Gly1368=)
c.4035G>A (p.Gly1345=)
c.3903G>A (p.Gly1301=)
c.3771G>A (p.Gly1257=)
20g.32436636G>CCA510467497ASXL1c.3924G>C (p.Gly1308=)
c.3741G>C (p.Gly1247=)
n.6277G>C
c.1870-1794G>C (n.1870-1794G>C)
c.3909G>C (p.Gly1303=)
c.3921G>C (p.Gly1307=)
c.3894G>C (p.Gly1298=)
c.3840G>C (p.Gly1280=)
c.3240G>C (p.Gly1080=)
c.4188G>C (p.Gly1396=)
c.4185G>C (p.Gly1395=)
c.4104G>C (p.Gly1368=)
c.4035G>C (p.Gly1345=)
c.3903G>C (p.Gly1301=)
c.3771G>C (p.Gly1257=)
20g.32436636G>TCA510467498ASXL1c.3924G>T (p.Gly1308=)
c.3741G>T (p.Gly1247=)
n.6277G>T
c.1870-1794G>T (n.1870-1794G>T)
c.3909G>T (p.Gly1303=)
c.3921G>T (p.Gly1307=)
c.3894G>T (p.Gly1298=)
c.3840G>T (p.Gly1280=)
c.3240G>T (p.Gly1080=)
c.4188G>T (p.Gly1396=)
c.4185G>T (p.Gly1395=)
c.4104G>T (p.Gly1368=)
c.4035G>T (p.Gly1345=)
c.3903G>T (p.Gly1301=)
c.3771G>T (p.Gly1257=)
 gnomAD v4
20g.32436637A>CCA408564080ASXL1c.3925A>C (p.Asn1309His)
c.3742A>C (p.Asn1248His)
n.6278A>C
c.1870-1793A>C (n.1870-1793A>C)
c.3910A>C (p.Asn1304His)
c.3922A>C (p.Asn1308His)
c.3895A>C (p.Asn1299His)
c.3841A>C (p.Asn1281His)
c.3241A>C (p.Asn1081His)
c.4189A>C (p.Asn1397His)
c.4186A>C (p.Asn1396His)
c.4105A>C (p.Asn1369His)
c.4036A>C (p.Asn1346His)
c.3904A>C (p.Asn1302His)
c.3772A>C (p.Asn1258His)
20g.32436637A>GCA408564082ASXL1c.3925A>G (p.Asn1309Asp)
c.3742A>G (p.Asn1248Asp)
n.6278A>G
c.1870-1793A>G (n.1870-1793A>G)
c.3910A>G (p.Asn1304Asp)
c.3922A>G (p.Asn1308Asp)
c.3895A>G (p.Asn1299Asp)
c.3841A>G (p.Asn1281Asp)
c.3241A>G (p.Asn1081Asp)
c.4189A>G (p.Asn1397Asp)
c.4186A>G (p.Asn1396Asp)
c.4105A>G (p.Asn1369Asp)
c.4036A>G (p.Asn1346Asp)
c.3904A>G (p.Asn1302Asp)
c.3772A>G (p.Asn1258Asp)
20g.32436637A>TCA408564081ASXL1c.3925A>T (p.Asn1309Tyr)
c.3742A>T (p.Asn1248Tyr)
n.6278A>T
c.1870-1793A>T (n.1870-1793A>T)
c.3910A>T (p.Asn1304Tyr)
c.3922A>T (p.Asn1308Tyr)
c.3895A>T (p.Asn1299Tyr)
c.3841A>T (p.Asn1281Tyr)
c.3241A>T (p.Asn1081Tyr)
c.4189A>T (p.Asn1397Tyr)
c.4186A>T (p.Asn1396Tyr)
c.4105A>T (p.Asn1369Tyr)
c.4036A>T (p.Asn1346Tyr)
c.3904A>T (p.Asn1302Tyr)
c.3772A>T (p.Asn1258Tyr)
20g.32436638A>CCA408564083ASXL1c.3926A>C (p.Asn1309Thr)
c.3743A>C (p.Asn1248Thr)
n.6279A>C
c.1870-1792A>C (n.1870-1792A>C)
c.3911A>C (p.Asn1304Thr)
c.3923A>C (p.Asn1308Thr)
c.3896A>C (p.Asn1299Thr)
c.3842A>C (p.Asn1281Thr)
c.3242A>C (p.Asn1081Thr)
c.4190A>C (p.Asn1397Thr)
c.4187A>C (p.Asn1396Thr)
c.4106A>C (p.Asn1369Thr)
c.4037A>C (p.Asn1346Thr)
c.3905A>C (p.Asn1302Thr)
c.3773A>C (p.Asn1258Thr)
20g.32436638A>GCA408564084ASXL1c.3926A>G (p.Asn1309Ser)
c.3743A>G (p.Asn1248Ser)
n.6279A>G
c.1870-1792A>G (n.1870-1792A>G)
c.3911A>G (p.Asn1304Ser)
c.3923A>G (p.Asn1308Ser)
c.3896A>G (p.Asn1299Ser)
c.3842A>G (p.Asn1281Ser)
c.3242A>G (p.Asn1081Ser)
c.4190A>G (p.Asn1397Ser)
c.4187A>G (p.Asn1396Ser)
c.4106A>G (p.Asn1369Ser)
c.4037A>G (p.Asn1346Ser)
c.3905A>G (p.Asn1302Ser)
c.3773A>G (p.Asn1258Ser)
20g.32436638A>TCA408564085ASXL1c.3926A>T (p.Asn1309Ile)
c.3743A>T (p.Asn1248Ile)
n.6279A>T
c.1870-1792A>T (n.1870-1792A>T)
c.3911A>T (p.Asn1304Ile)
c.3923A>T (p.Asn1308Ile)
c.3896A>T (p.Asn1299Ile)
c.3842A>T (p.Asn1281Ile)
c.3242A>T (p.Asn1081Ile)
c.4190A>T (p.Asn1397Ile)
c.4187A>T (p.Asn1396Ile)
c.4106A>T (p.Asn1369Ile)
c.4037A>T (p.Asn1346Ile)
c.3905A>T (p.Asn1302Ile)
c.3773A>T (p.Asn1258Ile)
20g.32436639T>ACA408564086ASXL1c.3927T>A (p.Asn1309Lys)
c.3744T>A (p.Asn1248Lys)
n.6280T>A
c.1870-1791T>A (n.1870-1791T>A)
c.3912T>A (p.Asn1304Lys)
c.3924T>A (p.Asn1308Lys)
c.3897T>A (p.Asn1299Lys)
c.3843T>A (p.Asn1281Lys)
c.3243T>A (p.Asn1081Lys)
c.4191T>A (p.Asn1397Lys)
c.4188T>A (p.Asn1396Lys)
c.4107T>A (p.Asn1369Lys)
c.4038T>A (p.Asn1346Lys)
c.3906T>A (p.Asn1302Lys)
c.3774T>A (p.Asn1258Lys)
20g.32436639T>CCA510467499ASXL1c.3927T>C (p.Asn1309=)
c.3744T>C (p.Asn1248=)
n.6280T>C
c.1870-1791T>C (n.1870-1791T>C)
c.3912T>C (p.Asn1304=)
c.3924T>C (p.Asn1308=)
c.3897T>C (p.Asn1299=)
c.3843T>C (p.Asn1281=)
c.3243T>C (p.Asn1081=)
c.4191T>C (p.Asn1397=)
c.4188T>C (p.Asn1396=)
c.4107T>C (p.Asn1369=)
c.4038T>C (p.Asn1346=)
c.3906T>C (p.Asn1302=)
c.3774T>C (p.Asn1258=)
20g.32436639T>GCA408564087ASXL1c.3927T>G (p.Asn1309Lys)
c.3744T>G (p.Asn1248Lys)
n.6280T>G
c.1870-1791T>G (n.1870-1791T>G)
c.3912T>G (p.Asn1304Lys)
c.3924T>G (p.Asn1308Lys)
c.3897T>G (p.Asn1299Lys)
c.3843T>G (p.Asn1281Lys)
c.3243T>G (p.Asn1081Lys)
c.4191T>G (p.Asn1397Lys)
c.4188T>G (p.Asn1396Lys)
c.4107T>G (p.Asn1369Lys)
c.4038T>G (p.Asn1346Lys)
c.3906T>G (p.Asn1302Lys)
c.3774T>G (p.Asn1258Lys)
20g.32436641_32436642delCA2695202521ASXL1c.3929_3930del (p.Val1310GlyfsTer18)
c.3746_3747del (p.Val1249GlyfsTer18)
n.6282_6283del
c.1870-1789_1870-1788del (n.1870-1789_1870-1788del)
c.3914_3915del (p.Val1305GlyfsTer18)
c.3926_3927del (p.Val1309GlyfsTer18)
c.3899_3900del (p.Val1300GlyfsTer18)
c.3845_3846del (p.Val1282GlyfsTer18)
c.3245_3246del (p.Val1082GlyfsTer18)
c.4193_4194del (p.Val1398GlyfsTer18)
c.4190_4191del (p.Val1397GlyfsTer18)
c.4109_4110del (p.Val1370GlyfsTer18)
c.4040_4041del (p.Val1347GlyfsTer18)
c.3908_3909del (p.Val1303GlyfsTer18)
c.3776_3777del (p.Val1259GlyfsTer18)
20g.32436640G>ACA408564088ASXL1c.3928G>A (p.Val1310Met)
c.3745G>A (p.Val1249Met)
n.6281G>A
c.1870-1790G>A (n.1870-1790G>A)
c.3913G>A (p.Val1305Met)
c.3925G>A (p.Val1309Met)
c.3898G>A (p.Val1300Met)
c.3844G>A (p.Val1282Met)
c.3244G>A (p.Val1082Met)
c.4192G>A (p.Val1398Met)
c.4189G>A (p.Val1397Met)
c.4108G>A (p.Val1370Met)
c.4039G>A (p.Val1347Met)
c.3907G>A (p.Val1303Met)
c.3775G>A (p.Val1259Met)
 dbSNP gnomAD v4
20g.32436640G>CCA408564089ASXL1c.3928G>C (p.Val1310Leu)
c.3745G>C (p.Val1249Leu)
n.6281G>C
c.1870-1790G>C (n.1870-1790G>C)
c.3913G>C (p.Val1305Leu)
c.3925G>C (p.Val1309Leu)
c.3898G>C (p.Val1300Leu)
c.3844G>C (p.Val1282Leu)
c.3244G>C (p.Val1082Leu)
c.4192G>C (p.Val1398Leu)
c.4189G>C (p.Val1397Leu)
c.4108G>C (p.Val1370Leu)
c.4039G>C (p.Val1347Leu)
c.3907G>C (p.Val1303Leu)
c.3775G>C (p.Val1259Leu)
20g.32436640G>TCA408564090ASXL1c.3928G>T (p.Val1310Leu)
c.3745G>T (p.Val1249Leu)
n.6281G>T
c.1870-1790G>T (n.1870-1790G>T)
c.3913G>T (p.Val1305Leu)
c.3925G>T (p.Val1309Leu)
c.3898G>T (p.Val1300Leu)
c.3844G>T (p.Val1282Leu)
c.3244G>T (p.Val1082Leu)
c.4192G>T (p.Val1398Leu)
c.4189G>T (p.Val1397Leu)
c.4108G>T (p.Val1370Leu)
c.4039G>T (p.Val1347Leu)
c.3907G>T (p.Val1303Leu)
c.3775G>T (p.Val1259Leu)
20g.32436641T>ACA408564091ASXL1c.3929T>A (p.Val1310Glu)
c.3746T>A (p.Val1249Glu)
n.6282T>A
c.1870-1789T>A (n.1870-1789T>A)
c.3914T>A (p.Val1305Glu)
c.3926T>A (p.Val1309Glu)
c.3899T>A (p.Val1300Glu)
c.3845T>A (p.Val1282Glu)
c.3245T>A (p.Val1082Glu)
c.4193T>A (p.Val1398Glu)
c.4190T>A (p.Val1397Glu)
c.4109T>A (p.Val1370Glu)
c.4040T>A (p.Val1347Glu)
c.3908T>A (p.Val1303Glu)
c.3776T>A (p.Val1259Glu)
20g.32436641T>CCA408564092ASXL1c.3929T>C (p.Val1310Ala)
c.3746T>C (p.Val1249Ala)
n.6282T>C
c.1870-1789T>C (n.1870-1789T>C)
c.3914T>C (p.Val1305Ala)
c.3926T>C (p.Val1309Ala)
c.3899T>C (p.Val1300Ala)
c.3845T>C (p.Val1282Ala)
c.3245T>C (p.Val1082Ala)
c.4193T>C (p.Val1398Ala)
c.4190T>C (p.Val1397Ala)
c.4109T>C (p.Val1370Ala)
c.4040T>C (p.Val1347Ala)
c.3908T>C (p.Val1303Ala)
c.3776T>C (p.Val1259Ala)
20g.32436641T>GCA408564093ASXL1c.3929T>G (p.Val1310Gly)
c.3746T>G (p.Val1249Gly)
n.6282T>G
c.1870-1789T>G (n.1870-1789T>G)
c.3914T>G (p.Val1305Gly)
c.3926T>G (p.Val1309Gly)
c.3899T>G (p.Val1300Gly)
c.3845T>G (p.Val1282Gly)
c.3245T>G (p.Val1082Gly)
c.4193T>G (p.Val1398Gly)
c.4190T>G (p.Val1397Gly)
c.4109T>G (p.Val1370Gly)
c.4040T>G (p.Val1347Gly)
c.3908T>G (p.Val1303Gly)
c.3776T>G (p.Val1259Gly)
 gnomAD v4
20g.32436642G>ACA510467500ASXL1c.3930G>A (p.Val1310=)
c.3747G>A (p.Val1249=)
n.6283G>A
c.1870-1788G>A (n.1870-1788G>A)
c.3915G>A (p.Val1305=)
c.3927G>A (p.Val1309=)
c.3900G>A (p.Val1300=)
c.3846G>A (p.Val1282=)
c.3246G>A (p.Val1082=)
c.4194G>A (p.Val1398=)
c.4191G>A (p.Val1397=)
c.4110G>A (p.Val1370=)
c.4041G>A (p.Val1347=)
c.3909G>A (p.Val1303=)
c.3777G>A (p.Val1259=)
20g.32436642G>CCA510467501ASXL1c.3930G>C (p.Val1310=)
c.3747G>C (p.Val1249=)
n.6283G>C
c.1870-1788G>C (n.1870-1788G>C)
c.3915G>C (p.Val1305=)
c.3927G>C (p.Val1309=)
c.3900G>C (p.Val1300=)
c.3846G>C (p.Val1282=)
c.3246G>C (p.Val1082=)
c.4194G>C (p.Val1398=)
c.4191G>C (p.Val1397=)
c.4110G>C (p.Val1370=)
c.4041G>C (p.Val1347=)
c.3909G>C (p.Val1303=)
c.3777G>C (p.Val1259=)
20g.32436642G>TCA510467502ASXL1c.3930G>T (p.Val1310=)
c.3747G>T (p.Val1249=)
n.6283G>T
c.1870-1788G>T (n.1870-1788G>T)
c.3915G>T (p.Val1305=)
c.3927G>T (p.Val1309=)
c.3900G>T (p.Val1300=)
c.3846G>T (p.Val1282=)
c.3246G>T (p.Val1082=)
c.4194G>T (p.Val1398=)
c.4191G>T (p.Val1397=)
c.4110G>T (p.Val1370=)
c.4041G>T (p.Val1347=)
c.3909G>T (p.Val1303=)
c.3777G>T (p.Val1259=)
 dbSNP
20g.32436643G>ACA408564096ASXL1c.3931G>A (p.Ala1311Thr)
c.3748G>A (p.Ala1250Thr)
n.6284G>A
c.1870-1787G>A (n.1870-1787G>A)
c.3916G>A (p.Ala1306Thr)
c.3928G>A (p.Ala1310Thr)
c.3901G>A (p.Ala1301Thr)
c.3847G>A (p.Ala1283Thr)
c.3247G>A (p.Ala1083Thr)
c.4195G>A (p.Ala1399Thr)
c.4192G>A (p.Ala1398Thr)
c.4111G>A (p.Ala1371Thr)
c.4042G>A (p.Ala1348Thr)
c.3910G>A (p.Ala1304Thr)
c.3778G>A (p.Ala1260Thr)
 COSMIC COSMIC
20g.32436643G>CCA408564094ASXL1c.3931G>C (p.Ala1311Pro)
c.3748G>C (p.Ala1250Pro)
n.6284G>C
c.1870-1787G>C (n.1870-1787G>C)
c.3916G>C (p.Ala1306Pro)
c.3928G>C (p.Ala1310Pro)
c.3901G>C (p.Ala1301Pro)
c.3847G>C (p.Ala1283Pro)
c.3247G>C (p.Ala1083Pro)
c.4195G>C (p.Ala1399Pro)
c.4192G>C (p.Ala1398Pro)
c.4111G>C (p.Ala1371Pro)
c.4042G>C (p.Ala1348Pro)
c.3910G>C (p.Ala1304Pro)
c.3778G>C (p.Ala1260Pro)
 dbSNP
20g.32436643G>TCA408564095ASXL1c.3931G>T (p.Ala1311Ser)
c.3748G>T (p.Ala1250Ser)
n.6284G>T
c.1870-1787G>T (n.1870-1787G>T)
c.3916G>T (p.Ala1306Ser)
c.3928G>T (p.Ala1310Ser)
c.3901G>T (p.Ala1301Ser)
c.3847G>T (p.Ala1283Ser)
c.3247G>T (p.Ala1083Ser)
c.4195G>T (p.Ala1399Ser)
c.4192G>T (p.Ala1398Ser)
c.4111G>T (p.Ala1371Ser)
c.4042G>T (p.Ala1348Ser)
c.3910G>T (p.Ala1304Ser)
c.3778G>T (p.Ala1260Ser)
20g.32436644C>ACA408564097ASXL1c.3932C>A (p.Ala1311Asp)
c.3749C>A (p.Ala1250Asp)
n.6285C>A
c.1870-1786C>A (n.1870-1786C>A)
c.3917C>A (p.Ala1306Asp)
c.3929C>A (p.Ala1310Asp)
c.3902C>A (p.Ala1301Asp)
c.3848C>A (p.Ala1283Asp)
c.3248C>A (p.Ala1083Asp)
c.4196C>A (p.Ala1399Asp)
c.4193C>A (p.Ala1398Asp)
c.4112C>A (p.Ala1371Asp)
c.4043C>A (p.Ala1348Asp)
c.3911C>A (p.Ala1304Asp)
c.3779C>A (p.Ala1260Asp)
20g.32436644C>GCA408564098ASXL1c.3932C>G (p.Ala1311Gly)
c.3749C>G (p.Ala1250Gly)
n.6285C>G
c.1870-1786C>G (n.1870-1786C>G)
c.3917C>G (p.Ala1306Gly)
c.3929C>G (p.Ala1310Gly)
c.3902C>G (p.Ala1301Gly)
c.3848C>G (p.Ala1283Gly)
c.3248C>G (p.Ala1083Gly)
c.4196C>G (p.Ala1399Gly)
c.4193C>G (p.Ala1398Gly)
c.4112C>G (p.Ala1371Gly)
c.4043C>G (p.Ala1348Gly)
c.3911C>G (p.Ala1304Gly)
c.3779C>G (p.Ala1260Gly)
 dbSNP
20g.32436644C>TCA408564099ASXL1c.3932C>T (p.Ala1311Val)
c.3749C>T (p.Ala1250Val)
n.6285C>T
c.1870-1786C>T (n.1870-1786C>T)
c.3917C>T (p.Ala1306Val)
c.3929C>T (p.Ala1310Val)
c.3902C>T (p.Ala1301Val)
c.3848C>T (p.Ala1283Val)
c.3248C>T (p.Ala1083Val)
c.4196C>T (p.Ala1399Val)
c.4193C>T (p.Ala1398Val)
c.4112C>T (p.Ala1371Val)
c.4043C>T (p.Ala1348Val)
c.3911C>T (p.Ala1304Val)
c.3779C>T (p.Ala1260Val)
 ClinVar
20g.32436645T>ACA510467504ASXL1c.3933T>A (p.Ala1311=)
c.3750T>A (p.Ala1250=)
n.6286T>A
c.1870-1785T>A (n.1870-1785T>A)
c.3918T>A (p.Ala1306=)
c.3930T>A (p.Ala1310=)
c.3903T>A (p.Ala1301=)
c.3849T>A (p.Ala1283=)
c.3249T>A (p.Ala1083=)
c.4197T>A (p.Ala1399=)
c.4194T>A (p.Ala1398=)
c.4113T>A (p.Ala1371=)
c.4044T>A (p.Ala1348=)
c.3912T>A (p.Ala1304=)
c.3780T>A (p.Ala1260=)
20g.32436645T>CCA9808927ASXL1c.3933T>C (p.Ala1311=)
c.3750T>C (p.Ala1250=)
n.6286T>C
c.1870-1785T>C (n.1870-1785T>C)
c.3918T>C (p.Ala1306=)
c.3930T>C (p.Ala1310=)
c.3903T>C (p.Ala1301=)
c.3849T>C (p.Ala1283=)
c.3249T>C (p.Ala1083=)
c.4197T>C (p.Ala1399=)
c.4194T>C (p.Ala1398=)
c.4113T>C (p.Ala1371=)
c.4044T>C (p.Ala1348=)
c.3912T>C (p.Ala1304=)
c.3780T>C (p.Ala1260=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436645T>GCA510467503ASXL1c.3933T>G (p.Ala1311=)
c.3750T>G (p.Ala1250=)
n.6286T>G
c.1870-1785T>G (n.1870-1785T>G)
c.3918T>G (p.Ala1306=)
c.3930T>G (p.Ala1310=)
c.3903T>G (p.Ala1301=)
c.3849T>G (p.Ala1283=)
c.3249T>G (p.Ala1083=)
c.4197T>G (p.Ala1399=)
c.4194T>G (p.Ala1398=)
c.4113T>G (p.Ala1371=)
c.4044T>G (p.Ala1348=)
c.3912T>G (p.Ala1304=)
c.3780T>G (p.Ala1260=)
20g.32436645T=CA2360293799ASXL1c.3933T= (p.Ala1311=)
c.3750T= (p.Ala1250=)
n.6286T=
c.1870-1785T= (n.1870-1785T=)
c.3918T= (p.Ala1306=)
c.3930T= (p.Ala1310=)
c.3903T= (p.Ala1301=)
c.3849T= (p.Ala1283=)
c.3249T= (p.Ala1083=)
c.4197T= (p.Ala1399=)
c.4194T= (p.Ala1398=)
c.4113T= (p.Ala1371=)
c.4044T= (p.Ala1348=)
c.3912T= (p.Ala1304=)
c.3780T= (p.Ala1260=)
20g.32436646G>ACA408564100ASXL1c.3934G>A (p.Ala1312Thr)
c.3751G>A (p.Ala1251Thr)
n.6287G>A
c.1870-1784G>A (n.1870-1784G>A)
c.3919G>A (p.Ala1307Thr)
c.3931G>A (p.Ala1311Thr)
c.3904G>A (p.Ala1302Thr)
c.3850G>A (p.Ala1284Thr)
c.3250G>A (p.Ala1084Thr)
c.4198G>A (p.Ala1400Thr)
c.4195G>A (p.Ala1399Thr)
c.4114G>A (p.Ala1372Thr)
c.4045G>A (p.Ala1349Thr)
c.3913G>A (p.Ala1305Thr)
c.3781G>A (p.Ala1261Thr)
 dbSNP
20g.32436646G>CCA408564101ASXL1c.3934G>C (p.Ala1312Pro)
c.3751G>C (p.Ala1251Pro)
n.6287G>C
c.1870-1784G>C (n.1870-1784G>C)
c.3919G>C (p.Ala1307Pro)
c.3931G>C (p.Ala1311Pro)
c.3904G>C (p.Ala1302Pro)
c.3850G>C (p.Ala1284Pro)
c.3250G>C (p.Ala1084Pro)
c.4198G>C (p.Ala1400Pro)
c.4195G>C (p.Ala1399Pro)
c.4114G>C (p.Ala1372Pro)
c.4045G>C (p.Ala1349Pro)
c.3913G>C (p.Ala1305Pro)
c.3781G>C (p.Ala1261Pro)
20g.32436646G>TCA408564102ASXL1c.3934G>T (p.Ala1312Ser)
c.3751G>T (p.Ala1251Ser)
n.6287G>T
c.1870-1784G>T (n.1870-1784G>T)
c.3919G>T (p.Ala1307Ser)
c.3931G>T (p.Ala1311Ser)
c.3904G>T (p.Ala1302Ser)
c.3850G>T (p.Ala1284Ser)
c.3250G>T (p.Ala1084Ser)
c.4198G>T (p.Ala1400Ser)
c.4195G>T (p.Ala1399Ser)
c.4114G>T (p.Ala1372Ser)
c.4045G>T (p.Ala1349Ser)
c.3913G>T (p.Ala1305Ser)
c.3781G>T (p.Ala1261Ser)
 COSMIC
20g.32436646dupCA510467505ASXL1c.3934dup (p.Ala1312GlyfsTer17)
c.3751dup (p.Ala1251GlyfsTer17)
n.6287dup
c.1870-1784dup (n.1870-1784dup)
c.3919dup (p.Ala1307GlyfsTer17)
c.3931dup (p.Ala1311GlyfsTer17)
c.3904dup (p.Ala1302GlyfsTer17)
c.3850dup (p.Ala1284GlyfsTer17)
c.3250dup (p.Ala1084GlyfsTer17)
c.4198dup (p.Ala1400GlyfsTer17)
c.4195dup (p.Ala1399GlyfsTer17)
c.4114dup (p.Ala1372GlyfsTer17)
c.4045dup (p.Ala1349GlyfsTer17)
c.3913dup (p.Ala1305GlyfsTer17)
c.3781dup (p.Ala1261GlyfsTer17)
 COSMIC
20g.32436647C>ACA408564103ASXL1c.3935C>A (p.Ala1312Glu)
c.3752C>A (p.Ala1251Glu)
n.6288C>A
c.1870-1783C>A (n.1870-1783C>A)
c.3920C>A (p.Ala1307Glu)
c.3932C>A (p.Ala1311Glu)
c.3905C>A (p.Ala1302Glu)
c.3851C>A (p.Ala1284Glu)
c.3251C>A (p.Ala1084Glu)
c.4199C>A (p.Ala1400Glu)
c.4196C>A (p.Ala1399Glu)
c.4115C>A (p.Ala1372Glu)
c.4046C>A (p.Ala1349Glu)
c.3914C>A (p.Ala1305Glu)
c.3782C>A (p.Ala1261Glu)
 COSMIC
20g.32436647C=CA2360293800ASXL1c.3935C= (p.Ala1312=)
c.3752C= (p.Ala1251=)
n.6288C=
c.1870-1783C= (n.1870-1783C=)
c.3920C= (p.Ala1307=)
c.3932C= (p.Ala1311=)
c.3905C= (p.Ala1302=)
c.3851C= (p.Ala1284=)
c.3251C= (p.Ala1084=)
c.4199C= (p.Ala1400=)
c.4196C= (p.Ala1399=)
c.4115C= (p.Ala1372=)
c.4046C= (p.Ala1349=)
c.3914C= (p.Ala1305=)
c.3782C= (p.Ala1261=)
20g.32436647C>GCA408564104ASXL1c.3935C>G (p.Ala1312Gly)
c.3752C>G (p.Ala1251Gly)
n.6288C>G
c.1870-1783C>G (n.1870-1783C>G)
c.3920C>G (p.Ala1307Gly)
c.3932C>G (p.Ala1311Gly)
c.3905C>G (p.Ala1302Gly)
c.3851C>G (p.Ala1284Gly)
c.3251C>G (p.Ala1084Gly)
c.4199C>G (p.Ala1400Gly)
c.4196C>G (p.Ala1399Gly)
c.4115C>G (p.Ala1372Gly)
c.4046C>G (p.Ala1349Gly)
c.3914C>G (p.Ala1305Gly)
c.3782C>G (p.Ala1261Gly)
 dbSNP
20g.32436647C>TCA157017ASXL1c.3935C>T (p.Ala1312Val)
c.3752C>T (p.Ala1251Val)
n.6288C>T
c.1870-1783C>T (n.1870-1783C>T)
c.3920C>T (p.Ala1307Val)
c.3932C>T (p.Ala1311Val)
c.3905C>T (p.Ala1302Val)
c.3851C>T (p.Ala1284Val)
c.3251C>T (p.Ala1084Val)
c.4199C>T (p.Ala1400Val)
c.4196C>T (p.Ala1399Val)
c.4115C>T (p.Ala1372Val)
c.4046C>T (p.Ala1349Val)
c.3914C>T (p.Ala1305Val)
c.3782C>T (p.Ala1261Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32436648A>CCA510467506ASXL1c.3936A>C (p.Ala1312=)
c.3753A>C (p.Ala1251=)
n.6289A>C
c.1870-1782A>C (n.1870-1782A>C)
c.3921A>C (p.Ala1307=)
c.3933A>C (p.Ala1311=)
c.3906A>C (p.Ala1302=)
c.3852A>C (p.Ala1284=)
c.3252A>C (p.Ala1084=)
c.4200A>C (p.Ala1400=)
c.4197A>C (p.Ala1399=)
c.4116A>C (p.Ala1372=)
c.4047A>C (p.Ala1349=)
c.3915A>C (p.Ala1305=)
c.3783A>C (p.Ala1261=)
20g.32436648A>GCA510467507ASXL1c.3936A>G (p.Ala1312=)
c.3753A>G (p.Ala1251=)
n.6289A>G
c.1870-1782A>G (n.1870-1782A>G)
c.3921A>G (p.Ala1307=)
c.3933A>G (p.Ala1311=)
c.3906A>G (p.Ala1302=)
c.3852A>G (p.Ala1284=)
c.3252A>G (p.Ala1084=)
c.4200A>G (p.Ala1400=)
c.4197A>G (p.Ala1399=)
c.4116A>G (p.Ala1372=)
c.4047A>G (p.Ala1349=)
c.3915A>G (p.Ala1305=)
c.3783A>G (p.Ala1261=)
20g.32436648A>TCA510467508ASXL1c.3936A>T (p.Ala1312=)
c.3753A>T (p.Ala1251=)
n.6289A>T
c.1870-1782A>T (n.1870-1782A>T)
c.3921A>T (p.Ala1307=)
c.3933A>T (p.Ala1311=)
c.3906A>T (p.Ala1302=)
c.3852A>T (p.Ala1284=)
c.3252A>T (p.Ala1084=)
c.4200A>T (p.Ala1400=)
c.4197A>T (p.Ala1399=)
c.4116A>T (p.Ala1372=)
c.4047A>T (p.Ala1349=)
c.3915A>T (p.Ala1305=)
c.3783A>T (p.Ala1261=)
20g.32436649A>CCA408564106ASXL1c.3937A>C (p.Thr1313Pro)
c.3754A>C (p.Thr1252Pro)
n.6290A>C
c.1870-1781A>C (n.1870-1781A>C)
c.3922A>C (p.Thr1308Pro)
c.3934A>C (p.Thr1312Pro)
c.3907A>C (p.Thr1303Pro)
c.3853A>C (p.Thr1285Pro)
c.3253A>C (p.Thr1085Pro)
c.4201A>C (p.Thr1401Pro)
c.4198A>C (p.Thr1400Pro)
c.4117A>C (p.Thr1373Pro)
c.4048A>C (p.Thr1350Pro)
c.3916A>C (p.Thr1306Pro)
c.3784A>C (p.Thr1262Pro)
20g.32436649A>GCA408564107ASXL1c.3937A>G (p.Thr1313Ala)
c.3754A>G (p.Thr1252Ala)
n.6290A>G
c.1870-1781A>G (n.1870-1781A>G)
c.3922A>G (p.Thr1308Ala)
c.3934A>G (p.Thr1312Ala)
c.3907A>G (p.Thr1303Ala)
c.3853A>G (p.Thr1285Ala)
c.3253A>G (p.Thr1085Ala)
c.4201A>G (p.Thr1401Ala)
c.4198A>G (p.Thr1400Ala)
c.4117A>G (p.Thr1373Ala)
c.4048A>G (p.Thr1350Ala)
c.3916A>G (p.Thr1306Ala)
c.3784A>G (p.Thr1262Ala)
20g.32436649A>TCA408564105ASXL1c.3937A>T (p.Thr1313Ser)
c.3754A>T (p.Thr1252Ser)
n.6290A>T
c.1870-1781A>T (n.1870-1781A>T)
c.3922A>T (p.Thr1308Ser)
c.3934A>T (p.Thr1312Ser)
c.3907A>T (p.Thr1303Ser)
c.3853A>T (p.Thr1285Ser)
c.3253A>T (p.Thr1085Ser)
c.4201A>T (p.Thr1401Ser)
c.4198A>T (p.Thr1400Ser)
c.4117A>T (p.Thr1373Ser)
c.4048A>T (p.Thr1350Ser)
c.3916A>T (p.Thr1306Ser)
c.3784A>T (p.Thr1262Ser)
 dbSNP
20g.32436650C>ACA408564108ASXL1c.3938C>A (p.Thr1313Asn)
c.3755C>A (p.Thr1252Asn)
n.6291C>A
c.1870-1780C>A (n.1870-1780C>A)
c.3923C>A (p.Thr1308Asn)
c.3935C>A (p.Thr1312Asn)
c.3908C>A (p.Thr1303Asn)
c.3854C>A (p.Thr1285Asn)
c.3254C>A (p.Thr1085Asn)
c.4202C>A (p.Thr1401Asn)
c.4199C>A (p.Thr1400Asn)
c.4118C>A (p.Thr1373Asn)
c.4049C>A (p.Thr1350Asn)
c.3917C>A (p.Thr1306Asn)
c.3785C>A (p.Thr1262Asn)
 gnomAD v4
20g.32436650C>GCA408564109ASXL1c.3938C>G (p.Thr1313Ser)
c.3755C>G (p.Thr1252Ser)
n.6291C>G
c.1870-1780C>G (n.1870-1780C>G)
c.3923C>G (p.Thr1308Ser)
c.3935C>G (p.Thr1312Ser)
c.3908C>G (p.Thr1303Ser)
c.3854C>G (p.Thr1285Ser)
c.3254C>G (p.Thr1085Ser)
c.4202C>G (p.Thr1401Ser)
c.4199C>G (p.Thr1400Ser)
c.4118C>G (p.Thr1373Ser)
c.4049C>G (p.Thr1350Ser)
c.3917C>G (p.Thr1306Ser)
c.3785C>G (p.Thr1262Ser)
 dbSNP
20g.32436650C>TCA408564110ASXL1c.3938C>T (p.Thr1313Ile)
c.3755C>T (p.Thr1252Ile)
n.6291C>T
c.1870-1780C>T (n.1870-1780C>T)
c.3923C>T (p.Thr1308Ile)
c.3935C>T (p.Thr1312Ile)
c.3908C>T (p.Thr1303Ile)
c.3854C>T (p.Thr1285Ile)
c.3254C>T (p.Thr1085Ile)
c.4202C>T (p.Thr1401Ile)
c.4199C>T (p.Thr1400Ile)
c.4118C>T (p.Thr1373Ile)
c.4049C>T (p.Thr1350Ile)
c.3917C>T (p.Thr1306Ile)
c.3785C>T (p.Thr1262Ile)
 ClinVar dbSNP gnomAD v4
20g.32436651C>ACA510467509ASXL1c.3939C>A (p.Thr1313=)
c.3756C>A (p.Thr1252=)
n.6292C>A
c.1870-1779C>A (n.1870-1779C>A)
c.3924C>A (p.Thr1308=)
c.3936C>A (p.Thr1312=)
c.3909C>A (p.Thr1303=)
c.3855C>A (p.Thr1285=)
c.3255C>A (p.Thr1085=)
c.4203C>A (p.Thr1401=)
c.4200C>A (p.Thr1400=)
c.4119C>A (p.Thr1373=)
c.4050C>A (p.Thr1350=)
c.3918C>A (p.Thr1306=)
c.3786C>A (p.Thr1262=)
20g.32436651C=CA2360293801ASXL1c.3939C= (p.Thr1313=)
c.3756C= (p.Thr1252=)
n.6292C=
c.1870-1779C= (n.1870-1779C=)
c.3924C= (p.Thr1308=)
c.3936C= (p.Thr1312=)
c.3909C= (p.Thr1303=)
c.3855C= (p.Thr1285=)
c.3255C= (p.Thr1085=)
c.4203C= (p.Thr1401=)
c.4200C= (p.Thr1400=)
c.4119C= (p.Thr1373=)
c.4050C= (p.Thr1350=)
c.3918C= (p.Thr1306=)
c.3786C= (p.Thr1262=)
20g.32436651C>GCA510467510ASXL1c.3939C>G (p.Thr1313=)
c.3756C>G (p.Thr1252=)
n.6292C>G
c.1870-1779C>G (n.1870-1779C>G)
c.3924C>G (p.Thr1308=)
c.3936C>G (p.Thr1312=)
c.3909C>G (p.Thr1303=)
c.3855C>G (p.Thr1285=)
c.3255C>G (p.Thr1085=)
c.4203C>G (p.Thr1401=)
c.4200C>G (p.Thr1400=)
c.4119C>G (p.Thr1373=)
c.4050C>G (p.Thr1350=)
c.3918C>G (p.Thr1306=)
c.3786C>G (p.Thr1262=)
20g.32436651C>TCA510467511ASXL1c.3939C>T (p.Thr1313=)
c.3756C>T (p.Thr1252=)
n.6292C>T
c.1870-1779C>T (n.1870-1779C>T)
c.3924C>T (p.Thr1308=)
c.3936C>T (p.Thr1312=)
c.3909C>T (p.Thr1303=)
c.3855C>T (p.Thr1285=)
c.3255C>T (p.Thr1085=)
c.4203C>T (p.Thr1401=)
c.4200C>T (p.Thr1400=)
c.4119C>T (p.Thr1373=)
c.4050C>T (p.Thr1350=)
c.3918C>T (p.Thr1306=)
c.3786C>T (p.Thr1262=)
 ClinVar dbSNP gnomAD v4
20g.32436654_32436669delCA2580098170ASXL1c.3942_3957del (p.Gln1315ArgfsTer?)
c.3759_3774del (p.Gln1254ArgfsTer?)
n.6295_6310del
c.1870-1776_1870-1761del (n.1870-1776_1870-1761del)
c.3927_3942del (p.Gln1310ArgfsTer?)
c.3939_3954del (p.Gln1314ArgfsTer?)
c.3912_3927del (p.Gln1305ArgfsTer?)
c.3858_3873del (p.Gln1287ArgfsTer?)
c.3258_3273del (p.Gln1087ArgfsTer?)
c.4206_4221del (p.Gln1403ArgfsTer?)
c.4203_4218del (p.Gln1402ArgfsTer?)
c.4122_4137del (p.Gln1375ArgfsTer?)
c.4053_4068del (p.Gln1352ArgfsTer?)
c.3921_3936del (p.Gln1308ArgfsTer?)
c.3789_3804del (p.Gln1264ArgfsTer?)
 ClinVar
20g.32436652C>ACA408564111ASXL1c.3940C>A (p.Leu1314Ile)
c.3757C>A (p.Leu1253Ile)
n.6293C>A
c.1870-1778C>A (n.1870-1778C>A)
c.3925C>A (p.Leu1309Ile)
c.3937C>A (p.Leu1313Ile)
c.3910C>A (p.Leu1304Ile)
c.3856C>A (p.Leu1286Ile)
c.3256C>A (p.Leu1086Ile)
c.4204C>A (p.Leu1402Ile)
c.4201C>A (p.Leu1401Ile)
c.4120C>A (p.Leu1374Ile)
c.4051C>A (p.Leu1351Ile)
c.3919C>A (p.Leu1307Ile)
c.3787C>A (p.Leu1263Ile)
 dbSNP
20g.32436652C=CA2360293802ASXL1c.3940C= (p.Leu1314=)
c.3757C= (p.Leu1253=)
n.6293C=
c.1870-1778C= (n.1870-1778C=)
c.3925C= (p.Leu1309=)
c.3937C= (p.Leu1313=)
c.3910C= (p.Leu1304=)
c.3856C= (p.Leu1286=)
c.3256C= (p.Leu1086=)
c.4204C= (p.Leu1402=)
c.4201C= (p.Leu1401=)
c.4120C= (p.Leu1374=)
c.4051C= (p.Leu1351=)
c.3919C= (p.Leu1307=)
c.3787C= (p.Leu1263=)
20g.32436652C>GCA408564112ASXL1c.3940C>G (p.Leu1314Val)
c.3757C>G (p.Leu1253Val)
n.6293C>G
c.1870-1778C>G (n.1870-1778C>G)
c.3925C>G (p.Leu1309Val)
c.3937C>G (p.Leu1313Val)
c.3910C>G (p.Leu1304Val)
c.3856C>G (p.Leu1286Val)
c.3256C>G (p.Leu1086Val)
c.4204C>G (p.Leu1402Val)
c.4201C>G (p.Leu1401Val)
c.4120C>G (p.Leu1374Val)
c.4051C>G (p.Leu1351Val)
c.3919C>G (p.Leu1307Val)
c.3787C>G (p.Leu1263Val)
 gnomAD v4
20g.32436652C>TCA9808928ASXL1c.3940C>T (p.Leu1314Phe)
c.3757C>T (p.Leu1253Phe)
n.6293C>T
c.1870-1778C>T (n.1870-1778C>T)
c.3925C>T (p.Leu1309Phe)
c.3937C>T (p.Leu1313Phe)
c.3910C>T (p.Leu1304Phe)
c.3856C>T (p.Leu1286Phe)
c.3256C>T (p.Leu1086Phe)
c.4204C>T (p.Leu1402Phe)
c.4201C>T (p.Leu1401Phe)
c.4120C>T (p.Leu1374Phe)
c.4051C>T (p.Leu1351Phe)
c.3919C>T (p.Leu1307Phe)
c.3787C>T (p.Leu1263Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436653T>ACA408564113ASXL1c.3941T>A (p.Leu1314His)
c.3758T>A (p.Leu1253His)
n.6294T>A
c.1870-1777T>A (n.1870-1777T>A)
c.3926T>A (p.Leu1309His)
c.3938T>A (p.Leu1313His)
c.3911T>A (p.Leu1304His)
c.3857T>A (p.Leu1286His)
c.3257T>A (p.Leu1086His)
c.4205T>A (p.Leu1402His)
c.4202T>A (p.Leu1401His)
c.4121T>A (p.Leu1374His)
c.4052T>A (p.Leu1351His)
c.3920T>A (p.Leu1307His)
c.3788T>A (p.Leu1263His)
20g.32436653T>CCA408564114ASXL1c.3941T>C (p.Leu1314Pro)
c.3758T>C (p.Leu1253Pro)
n.6294T>C
c.1870-1777T>C (n.1870-1777T>C)
c.3926T>C (p.Leu1309Pro)
c.3938T>C (p.Leu1313Pro)
c.3911T>C (p.Leu1304Pro)
c.3857T>C (p.Leu1286Pro)
c.3257T>C (p.Leu1086Pro)
c.4205T>C (p.Leu1402Pro)
c.4202T>C (p.Leu1401Pro)
c.4121T>C (p.Leu1374Pro)
c.4052T>C (p.Leu1351Pro)
c.3920T>C (p.Leu1307Pro)
c.3788T>C (p.Leu1263Pro)
20g.32436653T>GCA408564115ASXL1c.3941T>G (p.Leu1314Arg)
c.3758T>G (p.Leu1253Arg)
n.6294T>G
c.1870-1777T>G (n.1870-1777T>G)
c.3926T>G (p.Leu1309Arg)
c.3938T>G (p.Leu1313Arg)
c.3911T>G (p.Leu1304Arg)
c.3857T>G (p.Leu1286Arg)
c.3257T>G (p.Leu1086Arg)
c.4205T>G (p.Leu1402Arg)
c.4202T>G (p.Leu1401Arg)
c.4121T>G (p.Leu1374Arg)
c.4052T>G (p.Leu1351Arg)
c.3920T>G (p.Leu1307Arg)
c.3788T>G (p.Leu1263Arg)
20g.32436654dupCA2652401275ASXL1c.3942dup (p.Gln1315SerfsTer14)
c.3759dup (p.Gln1254SerfsTer14)
n.6295dup
c.1870-1776dup (n.1870-1776dup)
c.3927dup (p.Gln1310SerfsTer14)
c.3939dup (p.Gln1314SerfsTer14)
c.3912dup (p.Gln1305SerfsTer14)
c.3858dup (p.Gln1287SerfsTer14)
c.3258dup (p.Gln1087SerfsTer14)
c.4206dup (p.Gln1403SerfsTer14)
c.4203dup (p.Gln1402SerfsTer14)
c.4122dup (p.Gln1375SerfsTer14)
c.4053dup (p.Gln1352SerfsTer14)
c.3921dup (p.Gln1308SerfsTer14)
c.3789dup (p.Gln1264SerfsTer14)
 gnomAD v4
20g.32436654delCA645612973ASXL1c.3942del (p.Gln1315SerfsTer?)
c.3759del (p.Gln1254SerfsTer?)
n.6295del
c.1870-1776del (n.1870-1776del)
c.3927del (p.Gln1310SerfsTer?)
c.3939del (p.Gln1314SerfsTer?)
c.3912del (p.Gln1305SerfsTer?)
c.3858del (p.Gln1287SerfsTer?)
c.3258del (p.Gln1087SerfsTer?)
c.4206del (p.Gln1403SerfsTer?)
c.4203del (p.Gln1402SerfsTer?)
c.4122del (p.Gln1375SerfsTer?)
c.4053del (p.Gln1352SerfsTer?)
c.3921del (p.Gln1308SerfsTer?)
c.3789del (p.Gln1264SerfsTer?)
 COSMIC COSMIC
20g.32436654T>ACA510467512ASXL1c.3942T>A (p.Leu1314=)
c.3759T>A (p.Leu1253=)
n.6295T>A
c.1870-1776T>A (n.1870-1776T>A)
c.3927T>A (p.Leu1309=)
c.3939T>A (p.Leu1313=)
c.3912T>A (p.Leu1304=)
c.3858T>A (p.Leu1286=)
c.3258T>A (p.Leu1086=)
c.4206T>A (p.Leu1402=)
c.4203T>A (p.Leu1401=)
c.4122T>A (p.Leu1374=)
c.4053T>A (p.Leu1351=)
c.3921T>A (p.Leu1307=)
c.3789T>A (p.Leu1263=)
20g.32436654T>CCA510467513ASXL1c.3942T>C (p.Leu1314=)
c.3759T>C (p.Leu1253=)
n.6295T>C
c.1870-1776T>C (n.1870-1776T>C)
c.3927T>C (p.Leu1309=)
c.3939T>C (p.Leu1313=)
c.3912T>C (p.Leu1304=)
c.3858T>C (p.Leu1286=)
c.3258T>C (p.Leu1086=)
c.4206T>C (p.Leu1402=)
c.4203T>C (p.Leu1401=)
c.4122T>C (p.Leu1374=)
c.4053T>C (p.Leu1351=)
c.3921T>C (p.Leu1307=)
c.3789T>C (p.Leu1263=)
20g.32436654T>GCA510467514ASXL1c.3942T>G (p.Leu1314=)
c.3759T>G (p.Leu1253=)
n.6295T>G
c.1870-1776T>G (n.1870-1776T>G)
c.3927T>G (p.Leu1309=)
c.3939T>G (p.Leu1313=)
c.3912T>G (p.Leu1304=)
c.3858T>G (p.Leu1286=)
c.3258T>G (p.Leu1086=)
c.4206T>G (p.Leu1402=)
c.4203T>G (p.Leu1401=)
c.4122T>G (p.Leu1374=)
c.4053T>G (p.Leu1351=)
c.3921T>G (p.Leu1307=)
c.3789T>G (p.Leu1263=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436654T=CA2360293803ASXL1c.3942T= (p.Leu1314=)
c.3759T= (p.Leu1253=)
n.6295T=
c.1870-1776T= (n.1870-1776T=)
c.3927T= (p.Leu1309=)
c.3939T= (p.Leu1313=)
c.3912T= (p.Leu1304=)
c.3858T= (p.Leu1286=)
c.3258T= (p.Leu1086=)
c.4206T= (p.Leu1402=)
c.4203T= (p.Leu1401=)
c.4122T= (p.Leu1374=)
c.4053T= (p.Leu1351=)
c.3921T= (p.Leu1307=)
c.3789T= (p.Leu1263=)
20g.32436655C>ACA408564116ASXL1c.3943C>A (p.Gln1315Lys)
c.3760C>A (p.Gln1254Lys)
n.6296C>A
c.1870-1775C>A (n.1870-1775C>A)
c.3928C>A (p.Gln1310Lys)
c.3940C>A (p.Gln1314Lys)
c.3913C>A (p.Gln1305Lys)
c.3859C>A (p.Gln1287Lys)
c.3259C>A (p.Gln1087Lys)
c.4207C>A (p.Gln1403Lys)
c.4204C>A (p.Gln1402Lys)
c.4123C>A (p.Gln1375Lys)
c.4054C>A (p.Gln1352Lys)
c.3922C>A (p.Gln1308Lys)
c.3790C>A (p.Gln1264Lys)
20g.32436655C>GCA408564117ASXL1c.3943C>G (p.Gln1315Glu)
c.3760C>G (p.Gln1254Glu)
n.6296C>G
c.1870-1775C>G (n.1870-1775C>G)
c.3928C>G (p.Gln1310Glu)
c.3940C>G (p.Gln1314Glu)
c.3913C>G (p.Gln1305Glu)
c.3859C>G (p.Gln1287Glu)
c.3259C>G (p.Gln1087Glu)
c.4207C>G (p.Gln1403Glu)
c.4204C>G (p.Gln1402Glu)
c.4123C>G (p.Gln1375Glu)
c.4054C>G (p.Gln1352Glu)
c.3922C>G (p.Gln1308Glu)
c.3790C>G (p.Gln1264Glu)
20g.32436655C>TCA408564118ASXL1c.3943C>T (p.Gln1315Ter)
c.3760C>T (p.Gln1254Ter)
n.6296C>T
c.1870-1775C>T (n.1870-1775C>T)
c.3928C>T (p.Gln1310Ter)
c.3940C>T (p.Gln1314Ter)
c.3913C>T (p.Gln1305Ter)
c.3859C>T (p.Gln1287Ter)
c.3259C>T (p.Gln1087Ter)
c.4207C>T (p.Gln1403Ter)
c.4204C>T (p.Gln1402Ter)
c.4123C>T (p.Gln1375Ter)
c.4054C>T (p.Gln1352Ter)
c.3922C>T (p.Gln1308Ter)
c.3790C>T (p.Gln1264Ter)
 gnomAD v4
20g.32436656A>CCA408564120ASXL1c.3944A>C (p.Gln1315Pro)
c.3761A>C (p.Gln1254Pro)
n.6297A>C
c.1870-1774A>C (n.1870-1774A>C)
c.3929A>C (p.Gln1310Pro)
c.3941A>C (p.Gln1314Pro)
c.3914A>C (p.Gln1305Pro)
c.3860A>C (p.Gln1287Pro)
c.3260A>C (p.Gln1087Pro)
c.4208A>C (p.Gln1403Pro)
c.4205A>C (p.Gln1402Pro)
c.4124A>C (p.Gln1375Pro)
c.4055A>C (p.Gln1352Pro)
c.3923A>C (p.Gln1308Pro)
c.3791A>C (p.Gln1264Pro)
 gnomAD v4
20g.32436656A>GCA408564121ASXL1c.3944A>G (p.Gln1315Arg)
c.3761A>G (p.Gln1254Arg)
n.6297A>G
c.1870-1774A>G (n.1870-1774A>G)
c.3929A>G (p.Gln1310Arg)
c.3941A>G (p.Gln1314Arg)
c.3914A>G (p.Gln1305Arg)
c.3860A>G (p.Gln1287Arg)
c.3260A>G (p.Gln1087Arg)
c.4208A>G (p.Gln1403Arg)
c.4205A>G (p.Gln1402Arg)
c.4124A>G (p.Gln1375Arg)
c.4055A>G (p.Gln1352Arg)
c.3923A>G (p.Gln1308Arg)
c.3791A>G (p.Gln1264Arg)
20g.32436656A>TCA408564119ASXL1c.3944A>T (p.Gln1315Leu)
c.3761A>T (p.Gln1254Leu)
n.6297A>T
c.1870-1774A>T (n.1870-1774A>T)
c.3929A>T (p.Gln1310Leu)
c.3941A>T (p.Gln1314Leu)
c.3914A>T (p.Gln1305Leu)
c.3860A>T (p.Gln1287Leu)
c.3260A>T (p.Gln1087Leu)
c.4208A>T (p.Gln1403Leu)
c.4205A>T (p.Gln1402Leu)
c.4124A>T (p.Gln1375Leu)
c.4055A>T (p.Gln1352Leu)
c.3923A>T (p.Gln1308Leu)
c.3791A>T (p.Gln1264Leu)
20g.32436657G>ACA510467515ASXL1c.3945G>A (p.Gln1315=)
c.3762G>A (p.Gln1254=)
n.6298G>A
c.1870-1773G>A (n.1870-1773G>A)
c.3930G>A (p.Gln1310=)
c.3942G>A (p.Gln1314=)
c.3915G>A (p.Gln1305=)
c.3861G>A (p.Gln1287=)
c.3261G>A (p.Gln1087=)
c.4209G>A (p.Gln1403=)
c.4206G>A (p.Gln1402=)
c.4125G>A (p.Gln1375=)
c.4056G>A (p.Gln1352=)
c.3924G>A (p.Gln1308=)
c.3792G>A (p.Gln1264=)
 dbSNP
20g.32436657G>CCA408564122ASXL1c.3945G>C (p.Gln1315His)
c.3762G>C (p.Gln1254His)
n.6298G>C
c.1870-1773G>C (n.1870-1773G>C)
c.3930G>C (p.Gln1310His)
c.3942G>C (p.Gln1314His)
c.3915G>C (p.Gln1305His)
c.3861G>C (p.Gln1287His)
c.3261G>C (p.Gln1087His)
c.4209G>C (p.Gln1403His)
c.4206G>C (p.Gln1402His)
c.4125G>C (p.Gln1375His)
c.4056G>C (p.Gln1352His)
c.3924G>C (p.Gln1308His)
c.3792G>C (p.Gln1264His)
20g.32436657G>TCA408564123ASXL1c.3945G>T (p.Gln1315His)
c.3762G>T (p.Gln1254His)
n.6298G>T
c.1870-1773G>T (n.1870-1773G>T)
c.3930G>T (p.Gln1310His)
c.3942G>T (p.Gln1314His)
c.3915G>T (p.Gln1305His)
c.3861G>T (p.Gln1287His)
c.3261G>T (p.Gln1087His)
c.4209G>T (p.Gln1403His)
c.4206G>T (p.Gln1402His)
c.4125G>T (p.Gln1375His)
c.4056G>T (p.Gln1352His)
c.3924G>T (p.Gln1308His)
c.3792G>T (p.Gln1264His)
20g.32436658C>ACA408564124ASXL1c.3946C>A (p.Arg1316Ser)
c.3763C>A (p.Arg1255Ser)
n.6299C>A
c.1870-1772C>A (n.1870-1772C>A)
c.3931C>A (p.Arg1311Ser)
c.3943C>A (p.Arg1315Ser)
c.3916C>A (p.Arg1306Ser)
c.3862C>A (p.Arg1288Ser)
c.3262C>A (p.Arg1088Ser)
c.4210C>A (p.Arg1404Ser)
c.4207C>A (p.Arg1403Ser)
c.4126C>A (p.Arg1376Ser)
c.4057C>A (p.Arg1353Ser)
c.3925C>A (p.Arg1309Ser)
c.3793C>A (p.Arg1265Ser)
20g.32436658C=CA2360293804ASXL1c.3946C= (p.Arg1316=)
c.3763C= (p.Arg1255=)
n.6299C=
c.1870-1772C= (n.1870-1772C=)
c.3931C= (p.Arg1311=)
c.3943C= (p.Arg1315=)
c.3916C= (p.Arg1306=)
c.3862C= (p.Arg1288=)
c.3262C= (p.Arg1088=)
c.4210C= (p.Arg1404=)
c.4207C= (p.Arg1403=)
c.4126C= (p.Arg1376=)
c.4057C= (p.Arg1353=)
c.3925C= (p.Arg1309=)
c.3793C= (p.Arg1265=)
20g.32436658C>GCA408564125ASXL1c.3946C>G (p.Arg1316Gly)
c.3763C>G (p.Arg1255Gly)
n.6299C>G
c.1870-1772C>G (n.1870-1772C>G)
c.3931C>G (p.Arg1311Gly)
c.3943C>G (p.Arg1315Gly)
c.3916C>G (p.Arg1306Gly)
c.3862C>G (p.Arg1288Gly)
c.3262C>G (p.Arg1088Gly)
c.4210C>G (p.Arg1404Gly)
c.4207C>G (p.Arg1403Gly)
c.4126C>G (p.Arg1376Gly)
c.4057C>G (p.Arg1353Gly)
c.3925C>G (p.Arg1309Gly)
c.3793C>G (p.Arg1265Gly)
 ClinVar dbSNP gnomAD v4
20g.32436658C>TCA9808929ASXL1c.3946C>T (p.Arg1316Cys)
c.3763C>T (p.Arg1255Cys)
n.6299C>T
c.1870-1772C>T (n.1870-1772C>T)
c.3931C>T (p.Arg1311Cys)
c.3943C>T (p.Arg1315Cys)
c.3916C>T (p.Arg1306Cys)
c.3862C>T (p.Arg1288Cys)
c.3262C>T (p.Arg1088Cys)
c.4210C>T (p.Arg1404Cys)
c.4207C>T (p.Arg1403Cys)
c.4126C>T (p.Arg1376Cys)
c.4057C>T (p.Arg1353Cys)
c.3925C>T (p.Arg1309Cys)
c.3793C>T (p.Arg1265Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436659G>ACA9808930ASXL1c.3947G>A (p.Arg1316His)
c.3764G>A (p.Arg1255His)
n.6300G>A
c.1870-1771G>A (n.1870-1771G>A)
c.3932G>A (p.Arg1311His)
c.3944G>A (p.Arg1315His)
c.3917G>A (p.Arg1306His)
c.3863G>A (p.Arg1288His)
c.3263G>A (p.Arg1088His)
c.4211G>A (p.Arg1404His)
c.4208G>A (p.Arg1403His)
c.4127G>A (p.Arg1376His)
c.4058G>A (p.Arg1353His)
c.3926G>A (p.Arg1309His)
c.3794G>A (p.Arg1265His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32436659G>CCA408564126ASXL1c.3947G>C (p.Arg1316Pro)
c.3764G>C (p.Arg1255Pro)
n.6300G>C
c.1870-1771G>C (n.1870-1771G>C)
c.3932G>C (p.Arg1311Pro)
c.3944G>C (p.Arg1315Pro)
c.3917G>C (p.Arg1306Pro)
c.3863G>C (p.Arg1288Pro)
c.3263G>C (p.Arg1088Pro)
c.4211G>C (p.Arg1404Pro)
c.4208G>C (p.Arg1403Pro)
c.4127G>C (p.Arg1376Pro)
c.4058G>C (p.Arg1353Pro)
c.3926G>C (p.Arg1309Pro)
c.3794G>C (p.Arg1265Pro)
 dbSNP
20g.32436659G=CA2360293805ASXL1c.3947G= (p.Arg1316=)
c.3764G= (p.Arg1255=)
n.6300G=
c.1870-1771G= (n.1870-1771G=)
c.3932G= (p.Arg1311=)
c.3944G= (p.Arg1315=)
c.3917G= (p.Arg1306=)
c.3863G= (p.Arg1288=)
c.3263G= (p.Arg1088=)
c.4211G= (p.Arg1404=)
c.4208G= (p.Arg1403=)
c.4127G= (p.Arg1376=)
c.4058G= (p.Arg1353=)
c.3926G= (p.Arg1309=)
c.3794G= (p.Arg1265=)
20g.32436659G>TCA9808931ASXL1c.3947G>T (p.Arg1316Leu)
c.3764G>T (p.Arg1255Leu)
n.6300G>T
c.1870-1771G>T (n.1870-1771G>T)
c.3932G>T (p.Arg1311Leu)
c.3944G>T (p.Arg1315Leu)
c.3917G>T (p.Arg1306Leu)
c.3863G>T (p.Arg1288Leu)
c.3263G>T (p.Arg1088Leu)
c.4211G>T (p.Arg1404Leu)
c.4208G>T (p.Arg1403Leu)
c.4127G>T (p.Arg1376Leu)
c.4058G>T (p.Arg1353Leu)
c.3926G>T (p.Arg1309Leu)
c.3794G>T (p.Arg1265Leu)
 dbSNP ExAC gnomAD v4
20g.32436660C>ACA510467516ASXL1c.3948C>A (p.Arg1316=)
c.3765C>A (p.Arg1255=)
n.6301C>A
c.1870-1770C>A (n.1870-1770C>A)
c.3933C>A (p.Arg1311=)
c.3945C>A (p.Arg1315=)
c.3918C>A (p.Arg1306=)
c.3864C>A (p.Arg1288=)
c.3264C>A (p.Arg1088=)
c.4212C>A (p.Arg1404=)
c.4209C>A (p.Arg1403=)
c.4128C>A (p.Arg1376=)
c.4059C>A (p.Arg1353=)
c.3927C>A (p.Arg1309=)
c.3795C>A (p.Arg1265=)
 dbSNP
20g.32436660C>GCA510467517ASXL1c.3948C>G (p.Arg1316=)
c.3765C>G (p.Arg1255=)
n.6301C>G
c.1870-1770C>G (n.1870-1770C>G)
c.3933C>G (p.Arg1311=)
c.3945C>G (p.Arg1315=)
c.3918C>G (p.Arg1306=)
c.3864C>G (p.Arg1288=)
c.3264C>G (p.Arg1088=)
c.4212C>G (p.Arg1404=)
c.4209C>G (p.Arg1403=)
c.4128C>G (p.Arg1376=)
c.4059C>G (p.Arg1353=)
c.3927C>G (p.Arg1309=)
c.3795C>G (p.Arg1265=)
20g.32436660C>TCA510467518ASXL1c.3948C>T (p.Arg1316=)
c.3765C>T (p.Arg1255=)
n.6301C>T
c.1870-1770C>T (n.1870-1770C>T)
c.3933C>T (p.Arg1311=)
c.3945C>T (p.Arg1315=)
c.3918C>T (p.Arg1306=)
c.3864C>T (p.Arg1288=)
c.3264C>T (p.Arg1088=)
c.4212C>T (p.Arg1404=)
c.4209C>T (p.Arg1403=)
c.4128C>T (p.Arg1376=)
c.4059C>T (p.Arg1353=)
c.3927C>T (p.Arg1309=)
c.3795C>T (p.Arg1265=)
20g.32436661C>ACA313926368ASXL1c.3949C>A (p.Pro1317Thr)
c.3766C>A (p.Pro1256Thr)
n.6302C>A
c.1870-1769C>A (n.1870-1769C>A)
c.3934C>A (p.Pro1312Thr)
c.3946C>A (p.Pro1316Thr)
c.3919C>A (p.Pro1307Thr)
c.3865C>A (p.Pro1289Thr)
c.3265C>A (p.Pro1089Thr)
c.4213C>A (p.Pro1405Thr)
c.4210C>A (p.Pro1404Thr)
c.4129C>A (p.Pro1377Thr)
c.4060C>A (p.Pro1354Thr)
c.3928C>A (p.Pro1310Thr)
c.3796C>A (p.Pro1266Thr)
 ClinVar dbSNP gnomAD v4
20g.32436661C=CA2360293806ASXL1c.3949C= (p.Pro1317=)
c.3766C= (p.Pro1256=)
n.6302C=
c.1870-1769C= (n.1870-1769C=)
c.3934C= (p.Pro1312=)
c.3946C= (p.Pro1316=)
c.3919C= (p.Pro1307=)
c.3865C= (p.Pro1289=)
c.3265C= (p.Pro1089=)
c.4213C= (p.Pro1405=)
c.4210C= (p.Pro1404=)
c.4129C= (p.Pro1377=)
c.4060C= (p.Pro1354=)
c.3928C= (p.Pro1310=)
c.3796C= (p.Pro1266=)
20g.32436661C>GCA408564127ASXL1c.3949C>G (p.Pro1317Ala)
c.3766C>G (p.Pro1256Ala)
n.6302C>G
c.1870-1769C>G (n.1870-1769C>G)
c.3934C>G (p.Pro1312Ala)
c.3946C>G (p.Pro1316Ala)
c.3919C>G (p.Pro1307Ala)
c.3865C>G (p.Pro1289Ala)
c.3265C>G (p.Pro1089Ala)
c.4213C>G (p.Pro1405Ala)
c.4210C>G (p.Pro1404Ala)
c.4129C>G (p.Pro1377Ala)
c.4060C>G (p.Pro1354Ala)
c.3928C>G (p.Pro1310Ala)
c.3796C>G (p.Pro1266Ala)
20g.32436661C>TCA408564128ASXL1c.3949C>T (p.Pro1317Ser)
c.3766C>T (p.Pro1256Ser)
n.6302C>T
c.1870-1769C>T (n.1870-1769C>T)
c.3934C>T (p.Pro1312Ser)
c.3946C>T (p.Pro1316Ser)
c.3919C>T (p.Pro1307Ser)
c.3865C>T (p.Pro1289Ser)
c.3265C>T (p.Pro1089Ser)
c.4213C>T (p.Pro1405Ser)
c.4210C>T (p.Pro1404Ser)
c.4129C>T (p.Pro1377Ser)
c.4060C>T (p.Pro1354Ser)
c.3928C>T (p.Pro1310Ser)
c.3796C>T (p.Pro1266Ser)
20g.32436662C>ACA408564129ASXL1c.3950C>A (p.Pro1317His)
c.3767C>A (p.Pro1256His)
n.6303C>A
c.1870-1768C>A (n.1870-1768C>A)
c.3935C>A (p.Pro1312His)
c.3947C>A (p.Pro1316His)
c.3920C>A (p.Pro1307His)
c.3866C>A (p.Pro1289His)
c.3266C>A (p.Pro1089His)
c.4214C>A (p.Pro1405His)
c.4211C>A (p.Pro1404His)
c.4130C>A (p.Pro1377His)
c.4061C>A (p.Pro1354His)
c.3929C>A (p.Pro1310His)
c.3797C>A (p.Pro1266His)
 dbSNP
20g.32436662C>GCA408564130ASXL1c.3950C>G (p.Pro1317Arg)
c.3767C>G (p.Pro1256Arg)
n.6303C>G
c.1870-1768C>G (n.1870-1768C>G)
c.3935C>G (p.Pro1312Arg)
c.3947C>G (p.Pro1316Arg)
c.3920C>G (p.Pro1307Arg)
c.3866C>G (p.Pro1289Arg)
c.3266C>G (p.Pro1089Arg)
c.4214C>G (p.Pro1405Arg)
c.4211C>G (p.Pro1404Arg)
c.4130C>G (p.Pro1377Arg)
c.4061C>G (p.Pro1354Arg)
c.3929C>G (p.Pro1310Arg)
c.3797C>G (p.Pro1266Arg)
 dbSNP
20g.32436662C>TCA408564131ASXL1c.3950C>T (p.Pro1317Leu)
c.3767C>T (p.Pro1256Leu)
n.6303C>T
c.1870-1768C>T (n.1870-1768C>T)
c.3935C>T (p.Pro1312Leu)
c.3947C>T (p.Pro1316Leu)
c.3920C>T (p.Pro1307Leu)
c.3866C>T (p.Pro1289Leu)
c.3266C>T (p.Pro1089Leu)
c.4214C>T (p.Pro1405Leu)
c.4211C>T (p.Pro1404Leu)
c.4130C>T (p.Pro1377Leu)
c.4061C>T (p.Pro1354Leu)
c.3929C>T (p.Pro1310Leu)
c.3797C>T (p.Pro1266Leu)
20g.32436663C>ACA510467519ASXL1c.3951C>A (p.Pro1317=)
c.3768C>A (p.Pro1256=)
n.6304C>A
c.1870-1767C>A (n.1870-1767C>A)
c.3936C>A (p.Pro1312=)
c.3948C>A (p.Pro1316=)
c.3921C>A (p.Pro1307=)
c.3867C>A (p.Pro1289=)
c.3267C>A (p.Pro1089=)
c.4215C>A (p.Pro1405=)
c.4212C>A (p.Pro1404=)
c.4131C>A (p.Pro1377=)
c.4062C>A (p.Pro1354=)
c.3930C>A (p.Pro1310=)
c.3798C>A (p.Pro1266=)
20g.32436663C=CA2360293807ASXL1c.3951C= (p.Pro1317=)
c.3768C= (p.Pro1256=)
n.6304C=
c.1870-1767C= (n.1870-1767C=)
c.3936C= (p.Pro1312=)
c.3948C= (p.Pro1316=)
c.3921C= (p.Pro1307=)
c.3867C= (p.Pro1289=)
c.3267C= (p.Pro1089=)
c.4215C= (p.Pro1405=)
c.4212C= (p.Pro1404=)
c.4131C= (p.Pro1377=)
c.4062C= (p.Pro1354=)
c.3930C= (p.Pro1310=)
c.3798C= (p.Pro1266=)
20g.32436663C>GCA510467521ASXL1c.3951C>G (p.Pro1317=)
c.3768C>G (p.Pro1256=)
n.6304C>G
c.1870-1767C>G (n.1870-1767C>G)
c.3936C>G (p.Pro1312=)
c.3948C>G (p.Pro1316=)
c.3921C>G (p.Pro1307=)
c.3867C>G (p.Pro1289=)
c.3267C>G (p.Pro1089=)
c.4215C>G (p.Pro1405=)
c.4212C>G (p.Pro1404=)
c.4131C>G (p.Pro1377=)
c.4062C>G (p.Pro1354=)
c.3930C>G (p.Pro1310=)
c.3798C>G (p.Pro1266=)
 dbSNP gnomAD v4
20g.32436663C>TCA510467520ASXL1c.3951C>T (p.Pro1317=)
c.3768C>T (p.Pro1256=)
n.6304C>T
c.1870-1767C>T (n.1870-1767C>T)
c.3936C>T (p.Pro1312=)
c.3948C>T (p.Pro1316=)
c.3921C>T (p.Pro1307=)
c.3867C>T (p.Pro1289=)
c.3267C>T (p.Pro1089=)
c.4215C>T (p.Pro1405=)
c.4212C>T (p.Pro1404=)
c.4131C>T (p.Pro1377=)
c.4062C>T (p.Pro1354=)
c.3930C>T (p.Pro1310=)
c.3798C>T (p.Pro1266=)
 dbSNP gnomAD v3 gnomAD v4
20g.32436664A=CA2360293808ASXL1c.3952A= (p.Arg1318=)
c.3769A= (p.Arg1257=)
n.6305A=
c.1870-1766A= (n.1870-1766A=)
c.3937A= (p.Arg1313=)
c.3949A= (p.Arg1317=)
c.3922A= (p.Arg1308=)
c.3868A= (p.Arg1290=)
c.3268A= (p.Arg1090=)
c.4216A= (p.Arg1406=)
c.4213A= (p.Arg1405=)
c.4132A= (p.Arg1378=)
c.4063A= (p.Arg1355=)
c.3931A= (p.Arg1311=)
c.3799A= (p.Arg1267=)
20g.32436664A>CCA510467522ASXL1c.3952A>C (p.Arg1318=)
c.3769A>C (p.Arg1257=)
n.6305A>C
c.1870-1766A>C (n.1870-1766A>C)
c.3937A>C (p.Arg1313=)
c.3949A>C (p.Arg1317=)
c.3922A>C (p.Arg1308=)
c.3868A>C (p.Arg1290=)
c.3268A>C (p.Arg1090=)
c.4216A>C (p.Arg1406=)
c.4213A>C (p.Arg1405=)
c.4132A>C (p.Arg1378=)
c.4063A>C (p.Arg1355=)
c.3931A>C (p.Arg1311=)
c.3799A>C (p.Arg1267=)
20g.32436664A>GCA408564132ASXL1c.3952A>G (p.Arg1318Gly)
c.3769A>G (p.Arg1257Gly)
n.6305A>G
c.1870-1766A>G (n.1870-1766A>G)
c.3937A>G (p.Arg1313Gly)
c.3949A>G (p.Arg1317Gly)
c.3922A>G (p.Arg1308Gly)
c.3868A>G (p.Arg1290Gly)
c.3268A>G (p.Arg1090Gly)
c.4216A>G (p.Arg1406Gly)
c.4213A>G (p.Arg1405Gly)
c.4132A>G (p.Arg1378Gly)
c.4063A>G (p.Arg1355Gly)
c.3931A>G (p.Arg1311Gly)
c.3799A>G (p.Arg1267Gly)
20g.32436664A>TCA9808932ASXL1c.3952A>T (p.Arg1318Trp)
c.3769A>T (p.Arg1257Trp)
n.6305A>T
c.1870-1766A>T (n.1870-1766A>T)
c.3937A>T (p.Arg1313Trp)
c.3949A>T (p.Arg1317Trp)
c.3922A>T (p.Arg1308Trp)
c.3868A>T (p.Arg1290Trp)
c.3268A>T (p.Arg1090Trp)
c.4216A>T (p.Arg1406Trp)
c.4213A>T (p.Arg1405Trp)
c.4132A>T (p.Arg1378Trp)
c.4063A>T (p.Arg1355Trp)
c.3931A>T (p.Arg1311Trp)
c.3799A>T (p.Arg1267Trp)
 ClinVar dbSNP ExAC gnomAD v4
20g.32436665G>ACA408564133ASXL1c.3953G>A (p.Arg1318Lys)
c.3770G>A (p.Arg1257Lys)
n.6306G>A
c.1870-1765G>A (n.1870-1765G>A)
c.3938G>A (p.Arg1313Lys)
c.3950G>A (p.Arg1317Lys)
c.3923G>A (p.Arg1308Lys)
c.3869G>A (p.Arg1290Lys)
c.3269G>A (p.Arg1090Lys)
c.4217G>A (p.Arg1406Lys)
c.4214G>A (p.Arg1405Lys)
c.4133G>A (p.Arg1378Lys)
c.4064G>A (p.Arg1355Lys)
c.3932G>A (p.Arg1311Lys)
c.3800G>A (p.Arg1267Lys)
 gnomAD v4
20g.32436665G>CCA408564135ASXL1c.3953G>C (p.Arg1318Thr)
c.3770G>C (p.Arg1257Thr)
n.6306G>C
c.1870-1765G>C (n.1870-1765G>C)
c.3938G>C (p.Arg1313Thr)
c.3950G>C (p.Arg1317Thr)
c.3923G>C (p.Arg1308Thr)
c.3869G>C (p.Arg1290Thr)
c.3269G>C (p.Arg1090Thr)
c.4217G>C (p.Arg1406Thr)
c.4214G>C (p.Arg1405Thr)
c.4133G>C (p.Arg1378Thr)
c.4064G>C (p.Arg1355Thr)
c.3932G>C (p.Arg1311Thr)
c.3800G>C (p.Arg1267Thr)
 dbSNP
20g.32436665G>TCA408564134ASXL1c.3953G>T (p.Arg1318Met)
c.3770G>T (p.Arg1257Met)
n.6306G>T
c.1870-1765G>T (n.1870-1765G>T)
c.3938G>T (p.Arg1313Met)
c.3950G>T (p.Arg1317Met)
c.3923G>T (p.Arg1308Met)
c.3869G>T (p.Arg1290Met)
c.3269G>T (p.Arg1090Met)
c.4217G>T (p.Arg1406Met)
c.4214G>T (p.Arg1405Met)
c.4133G>T (p.Arg1378Met)
c.4064G>T (p.Arg1355Met)
c.3932G>T (p.Arg1311Met)
c.3800G>T (p.Arg1267Met)
20g.32436666G>ACA510467523ASXL1c.3954G>A (p.Arg1318=)
c.3771G>A (p.Arg1257=)
n.6307G>A
c.1870-1764G>A (n.1870-1764G>A)
c.3939G>A (p.Arg1313=)
c.3951G>A (p.Arg1317=)
c.3924G>A (p.Arg1308=)
c.3870G>A (p.Arg1290=)
c.3270G>A (p.Arg1090=)
c.4218G>A (p.Arg1406=)
c.4215G>A (p.Arg1405=)
c.4134G>A (p.Arg1378=)
c.4065G>A (p.Arg1355=)
c.3933G>A (p.Arg1311=)
c.3801G>A (p.Arg1267=)
 gnomAD v4
20g.32436666G>CCA408564136ASXL1c.3954G>C (p.Arg1318Ser)
c.3771G>C (p.Arg1257Ser)
n.6307G>C
c.1870-1764G>C (n.1870-1764G>C)
c.3939G>C (p.Arg1313Ser)
c.3951G>C (p.Arg1317Ser)
c.3924G>C (p.Arg1308Ser)
c.3870G>C (p.Arg1290Ser)
c.3270G>C (p.Arg1090Ser)
c.4218G>C (p.Arg1406Ser)
c.4215G>C (p.Arg1405Ser)
c.4134G>C (p.Arg1378Ser)
c.4065G>C (p.Arg1355Ser)
c.3933G>C (p.Arg1311Ser)
c.3801G>C (p.Arg1267Ser)
 dbSNP
20g.32436666G>TCA408564137ASXL1c.3954G>T (p.Arg1318Ser)
c.3771G>T (p.Arg1257Ser)
n.6307G>T
c.1870-1764G>T (n.1870-1764G>T)
c.3939G>T (p.Arg1313Ser)
c.3951G>T (p.Arg1317Ser)
c.3924G>T (p.Arg1308Ser)
c.3870G>T (p.Arg1290Ser)
c.3270G>T (p.Arg1090Ser)
c.4218G>T (p.Arg1406Ser)
c.4215G>T (p.Arg1405Ser)
c.4134G>T (p.Arg1378Ser)
c.4065G>T (p.Arg1355Ser)
c.3933G>T (p.Arg1311Ser)
c.3801G>T (p.Arg1267Ser)
20g.32436667C>ACA408564138ASXL1c.3955C>A (p.Pro1319Thr)
c.3772C>A (p.Pro1258Thr)
n.6308C>A
c.1870-1763C>A (n.1870-1763C>A)
c.3940C>A (p.Pro1314Thr)
c.3952C>A (p.Pro1318Thr)
c.3925C>A (p.Pro1309Thr)
c.3871C>A (p.Pro1291Thr)
c.3271C>A (p.Pro1091Thr)
c.4219C>A (p.Pro1407Thr)
c.4216C>A (p.Pro1406Thr)
c.4135C>A (p.Pro1379Thr)
c.4066C>A (p.Pro1356Thr)
c.3934C>A (p.Pro1312Thr)
c.3802C>A (p.Pro1268Thr)
 dbSNP gnomAD v4
20g.32436667C>GCA408564139ASXL1c.3955C>G (p.Pro1319Ala)
c.3772C>G (p.Pro1258Ala)
n.6308C>G
c.1870-1763C>G (n.1870-1763C>G)
c.3940C>G (p.Pro1314Ala)
c.3952C>G (p.Pro1318Ala)
c.3925C>G (p.Pro1309Ala)
c.3871C>G (p.Pro1291Ala)
c.3271C>G (p.Pro1091Ala)
c.4219C>G (p.Pro1407Ala)
c.4216C>G (p.Pro1406Ala)
c.4135C>G (p.Pro1379Ala)
c.4066C>G (p.Pro1356Ala)
c.3934C>G (p.Pro1312Ala)
c.3802C>G (p.Pro1268Ala)
20g.32436667C>TCA408564140ASXL1c.3955C>T (p.Pro1319Ser)
c.3772C>T (p.Pro1258Ser)
n.6308C>T
c.1870-1763C>T (n.1870-1763C>T)
c.3940C>T (p.Pro1314Ser)
c.3952C>T (p.Pro1318Ser)
c.3925C>T (p.Pro1309Ser)
c.3871C>T (p.Pro1291Ser)
c.3271C>T (p.Pro1091Ser)
c.4219C>T (p.Pro1407Ser)
c.4216C>T (p.Pro1406Ser)
c.4135C>T (p.Pro1379Ser)
c.4066C>T (p.Pro1356Ser)
c.3934C>T (p.Pro1312Ser)
c.3802C>T (p.Pro1268Ser)
 dbSNP
20g.32436668C>ACA408564141ASXL1c.3956C>A (p.Pro1319His)
c.3773C>A (p.Pro1258His)
n.6309C>A
c.1870-1762C>A (n.1870-1762C>A)
c.3941C>A (p.Pro1314His)
c.3953C>A (p.Pro1318His)
c.3926C>A (p.Pro1309His)
c.3872C>A (p.Pro1291His)
c.3272C>A (p.Pro1091His)
c.4220C>A (p.Pro1407His)
c.4217C>A (p.Pro1406His)
c.4136C>A (p.Pro1379His)
c.4067C>A (p.Pro1356His)
c.3935C>A (p.Pro1312His)
c.3803C>A (p.Pro1268His)
20g.32436668C=CA2360293809ASXL1c.3956C= (p.Pro1319=)
c.3773C= (p.Pro1258=)
n.6309C=
c.1870-1762C= (n.1870-1762C=)
c.3941C= (p.Pro1314=)
c.3953C= (p.Pro1318=)
c.3926C= (p.Pro1309=)
c.3872C= (p.Pro1291=)
c.3272C= (p.Pro1091=)
c.4220C= (p.Pro1407=)
c.4217C= (p.Pro1406=)
c.4136C= (p.Pro1379=)
c.4067C= (p.Pro1356=)
c.3935C= (p.Pro1312=)
c.3803C= (p.Pro1268=)
20g.32436668C>GCA408564142ASXL1c.3956C>G (p.Pro1319Arg)
c.3773C>G (p.Pro1258Arg)
n.6309C>G
c.1870-1762C>G (n.1870-1762C>G)
c.3941C>G (p.Pro1314Arg)
c.3953C>G (p.Pro1318Arg)
c.3926C>G (p.Pro1309Arg)
c.3872C>G (p.Pro1291Arg)
c.3272C>G (p.Pro1091Arg)
c.4220C>G (p.Pro1407Arg)
c.4217C>G (p.Pro1406Arg)
c.4136C>G (p.Pro1379Arg)
c.4067C>G (p.Pro1356Arg)
c.3935C>G (p.Pro1312Arg)
c.3803C>G (p.Pro1268Arg)
20g.32436668C>TCA313926369ASXL1c.3956C>T (p.Pro1319Leu)
c.3773C>T (p.Pro1258Leu)
n.6309C>T
c.1870-1762C>T (n.1870-1762C>T)
c.3941C>T (p.Pro1314Leu)
c.3953C>T (p.Pro1318Leu)
c.3926C>T (p.Pro1309Leu)
c.3872C>T (p.Pro1291Leu)
c.3272C>T (p.Pro1091Leu)
c.4220C>T (p.Pro1407Leu)
c.4217C>T (p.Pro1406Leu)
c.4136C>T (p.Pro1379Leu)
c.4067C>T (p.Pro1356Leu)
c.3935C>T (p.Pro1312Leu)
c.3803C>T (p.Pro1268Leu)
 dbSNP gnomAD v4
20g.32436669T>ACA510467526ASXL1c.3957T>A (p.Pro1319=)
c.3774T>A (p.Pro1258=)
n.6310T>A
c.1870-1761T>A (n.1870-1761T>A)
c.3942T>A (p.Pro1314=)
c.3954T>A (p.Pro1318=)
c.3927T>A (p.Pro1309=)
c.3873T>A (p.Pro1291=)
c.3273T>A (p.Pro1091=)
c.4221T>A (p.Pro1407=)
c.4218T>A (p.Pro1406=)
c.4137T>A (p.Pro1379=)
c.4068T>A (p.Pro1356=)
c.3936T>A (p.Pro1312=)
c.3804T>A (p.Pro1268=)
20g.32436669T>CCA510467525ASXL1c.3957T>C (p.Pro1319=)
c.3774T>C (p.Pro1258=)
n.6310T>C
c.1870-1761T>C (n.1870-1761T>C)
c.3942T>C (p.Pro1314=)
c.3954T>C (p.Pro1318=)
c.3927T>C (p.Pro1309=)
c.3873T>C (p.Pro1291=)
c.3273T>C (p.Pro1091=)
c.4221T>C (p.Pro1407=)
c.4218T>C (p.Pro1406=)
c.4137T>C (p.Pro1379=)
c.4068T>C (p.Pro1356=)
c.3936T>C (p.Pro1312=)
c.3804T>C (p.Pro1268=)
 gnomAD v4
20g.32436669T>GCA510467524ASXL1c.3957T>G (p.Pro1319=)
c.3774T>G (p.Pro1258=)
n.6310T>G
c.1870-1761T>G (n.1870-1761T>G)
c.3942T>G (p.Pro1314=)
c.3954T>G (p.Pro1318=)
c.3927T>G (p.Pro1309=)
c.3873T>G (p.Pro1291=)
c.3273T>G (p.Pro1091=)
c.4221T>G (p.Pro1407=)
c.4218T>G (p.Pro1406=)
c.4137T>G (p.Pro1379=)
c.4068T>G (p.Pro1356=)
c.3936T>G (p.Pro1312=)
c.3804T>G (p.Pro1268=)
20g.32436670G>ACA408564143ASXL1c.3958G>A (p.Ala1320Thr)
c.3775G>A (p.Ala1259Thr)
n.6311G>A
c.1870-1760G>A (n.1870-1760G>A)
c.3943G>A (p.Ala1315Thr)
c.3955G>A (p.Ala1319Thr)
c.3928G>A (p.Ala1310Thr)
c.3874G>A (p.Ala1292Thr)
c.3274G>A (p.Ala1092Thr)
c.4222G>A (p.Ala1408Thr)
c.4219G>A (p.Ala1407Thr)
c.4138G>A (p.Ala1380Thr)
c.4069G>A (p.Ala1357Thr)
c.3937G>A (p.Ala1313Thr)
c.3805G>A (p.Ala1269Thr)
 gnomAD v4
20g.32436670G>CCA408564144ASXL1c.3958G>C (p.Ala1320Pro)
c.3775G>C (p.Ala1259Pro)
n.6311G>C
c.1870-1760G>C (n.1870-1760G>C)
c.3943G>C (p.Ala1315Pro)
c.3955G>C (p.Ala1319Pro)
c.3928G>C (p.Ala1310Pro)
c.3874G>C (p.Ala1292Pro)
c.3274G>C (p.Ala1092Pro)
c.4222G>C (p.Ala1408Pro)
c.4219G>C (p.Ala1407Pro)
c.4138G>C (p.Ala1380Pro)
c.4069G>C (p.Ala1357Pro)
c.3937G>C (p.Ala1313Pro)
c.3805G>C (p.Ala1269Pro)
 dbSNP
20g.32436670G>TCA408564145ASXL1c.3958G>T (p.Ala1320Ser)
c.3775G>T (p.Ala1259Ser)
n.6311G>T
c.1870-1760G>T (n.1870-1760G>T)
c.3943G>T (p.Ala1315Ser)
c.3955G>T (p.Ala1319Ser)
c.3928G>T (p.Ala1310Ser)
c.3874G>T (p.Ala1292Ser)
c.3274G>T (p.Ala1092Ser)
c.4222G>T (p.Ala1408Ser)
c.4219G>T (p.Ala1407Ser)
c.4138G>T (p.Ala1380Ser)
c.4069G>T (p.Ala1357Ser)
c.3937G>T (p.Ala1313Ser)
c.3805G>T (p.Ala1269Ser)
20g.32436671C>ACA408564147ASXL1c.3959C>A (p.Ala1320Glu)
c.3776C>A (p.Ala1259Glu)
n.6312C>A
c.1870-1759C>A (n.1870-1759C>A)
c.3944C>A (p.Ala1315Glu)
c.3956C>A (p.Ala1319Glu)
c.3929C>A (p.Ala1310Glu)
c.3875C>A (p.Ala1292Glu)
c.3275C>A (p.Ala1092Glu)
c.4223C>A (p.Ala1408Glu)
c.4220C>A (p.Ala1407Glu)
c.4139C>A (p.Ala1380Glu)
c.4070C>A (p.Ala1357Glu)
c.3938C>A (p.Ala1313Glu)
c.3806C>A (p.Ala1269Glu)
 dbSNP
20g.32436671C=CA2360293810ASXL1c.3959C= (p.Ala1320=)
c.3776C= (p.Ala1259=)
n.6312C=
c.1870-1759C= (n.1870-1759C=)
c.3944C= (p.Ala1315=)
c.3956C= (p.Ala1319=)
c.3929C= (p.Ala1310=)
c.3875C= (p.Ala1292=)
c.3275C= (p.Ala1092=)
c.4223C= (p.Ala1408=)
c.4220C= (p.Ala1407=)
c.4139C= (p.Ala1380=)
c.4070C= (p.Ala1357=)
c.3938C= (p.Ala1313=)
c.3806C= (p.Ala1269=)
20g.32436671C>GCA408564146ASXL1c.3959C>G (p.Ala1320Gly)
c.3776C>G (p.Ala1259Gly)
n.6312C>G
c.1870-1759C>G (n.1870-1759C>G)
c.3944C>G (p.Ala1315Gly)
c.3956C>G (p.Ala1319Gly)
c.3929C>G (p.Ala1310Gly)
c.3875C>G (p.Ala1292Gly)
c.3275C>G (p.Ala1092Gly)
c.4223C>G (p.Ala1408Gly)
c.4220C>G (p.Ala1407Gly)
c.4139C>G (p.Ala1380Gly)
c.4070C>G (p.Ala1357Gly)
c.3938C>G (p.Ala1313Gly)
c.3806C>G (p.Ala1269Gly)
20g.32436671C>TCA9808933ASXL1c.3959C>T (p.Ala1320Val)
c.3776C>T (p.Ala1259Val)
n.6312C>T
c.1870-1759C>T (n.1870-1759C>T)
c.3944C>T (p.Ala1315Val)
c.3956C>T (p.Ala1319Val)
c.3929C>T (p.Ala1310Val)
c.3875C>T (p.Ala1292Val)
c.3275C>T (p.Ala1092Val)
c.4223C>T (p.Ala1408Val)
c.4220C>T (p.Ala1407Val)
c.4139C>T (p.Ala1380Val)
c.4070C>T (p.Ala1357Val)
c.3938C>T (p.Ala1313Val)
c.3806C>T (p.Ala1269Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32436672G>ACA510467527ASXL1c.3960G>A (p.Ala1320=)
c.3777G>A (p.Ala1259=)
n.6313G>A
c.1870-1758G>A (n.1870-1758G>A)
c.3945G>A (p.Ala1315=)
c.3957G>A (p.Ala1319=)
c.3930G>A (p.Ala1310=)
c.3876G>A (p.Ala1292=)
c.3276G>A (p.Ala1092=)
c.4224G>A (p.Ala1408=)
c.4221G>A (p.Ala1407=)
c.4140G>A (p.Ala1380=)
c.4071G>A (p.Ala1357=)
c.3939G>A (p.Ala1313=)
c.3807G>A (p.Ala1269=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436672G>CCA510467528ASXL1c.3960G>C (p.Ala1320=)
c.3777G>C (p.Ala1259=)
n.6313G>C
c.1870-1758G>C (n.1870-1758G>C)
c.3945G>C (p.Ala1315=)
c.3957G>C (p.Ala1319=)
c.3930G>C (p.Ala1310=)
c.3876G>C (p.Ala1292=)
c.3276G>C (p.Ala1092=)
c.4224G>C (p.Ala1408=)
c.4221G>C (p.Ala1407=)
c.4140G>C (p.Ala1380=)
c.4071G>C (p.Ala1357=)
c.3939G>C (p.Ala1313=)
c.3807G>C (p.Ala1269=)
 dbSNP
20g.32436672G=CA2360293811ASXL1c.3960G= (p.Ala1320=)
c.3777G= (p.Ala1259=)
n.6313G=
c.1870-1758G= (n.1870-1758G=)
c.3945G= (p.Ala1315=)
c.3957G= (p.Ala1319=)
c.3930G= (p.Ala1310=)
c.3876G= (p.Ala1292=)
c.3276G= (p.Ala1092=)
c.4224G= (p.Ala1408=)
c.4221G= (p.Ala1407=)
c.4140G= (p.Ala1380=)
c.4071G= (p.Ala1357=)
c.3939G= (p.Ala1313=)
c.3807G= (p.Ala1269=)
20g.32436672G>TCA510467529ASXL1c.3960G>T (p.Ala1320=)
c.3777G>T (p.Ala1259=)
n.6313G>T
c.1870-1758G>T (n.1870-1758G>T)
c.3945G>T (p.Ala1315=)
c.3957G>T (p.Ala1319=)
c.3930G>T (p.Ala1310=)
c.3876G>T (p.Ala1292=)
c.3276G>T (p.Ala1092=)
c.4224G>T (p.Ala1408=)
c.4221G>T (p.Ala1407=)
c.4140G>T (p.Ala1380=)
c.4071G>T (p.Ala1357=)
c.3939G>T (p.Ala1313=)
c.3807G>T (p.Ala1269=)
20g.32436673G>ACA408564148ASXL1c.3961G>A (p.Asp1321Asn)
c.3778G>A (p.Asp1260Asn)
n.6314G>A
c.1870-1757G>A (n.1870-1757G>A)
c.3946G>A (p.Asp1316Asn)
c.3958G>A (p.Asp1320Asn)
c.3931G>A (p.Asp1311Asn)
c.3877G>A (p.Asp1293Asn)
c.3277G>A (p.Asp1093Asn)
c.4225G>A (p.Asp1409Asn)
c.4222G>A (p.Asp1408Asn)
c.4141G>A (p.Asp1381Asn)
c.4072G>A (p.Asp1358Asn)
c.3940G>A (p.Asp1314Asn)
c.3808G>A (p.Asp1270Asn)
20g.32436673G>CCA408564149ASXL1c.3961G>C (p.Asp1321His)
c.3778G>C (p.Asp1260His)
n.6314G>C
c.1870-1757G>C (n.1870-1757G>C)
c.3946G>C (p.Asp1316His)
c.3958G>C (p.Asp1320His)
c.3931G>C (p.Asp1311His)
c.3877G>C (p.Asp1293His)
c.3277G>C (p.Asp1093His)
c.4225G>C (p.Asp1409His)
c.4222G>C (p.Asp1408His)
c.4141G>C (p.Asp1381His)
c.4072G>C (p.Asp1358His)
c.3940G>C (p.Asp1314His)
c.3808G>C (p.Asp1270His)
 dbSNP
20g.32436673G>TCA408564150ASXL1c.3961G>T (p.Asp1321Tyr)
c.3778G>T (p.Asp1260Tyr)
n.6314G>T
c.1870-1757G>T (n.1870-1757G>T)
c.3946G>T (p.Asp1316Tyr)
c.3958G>T (p.Asp1320Tyr)
c.3931G>T (p.Asp1311Tyr)
c.3877G>T (p.Asp1293Tyr)
c.3277G>T (p.Asp1093Tyr)
c.4225G>T (p.Asp1409Tyr)
c.4222G>T (p.Asp1408Tyr)
c.4141G>T (p.Asp1381Tyr)
c.4072G>T (p.Asp1358Tyr)
c.3940G>T (p.Asp1314Tyr)
c.3808G>T (p.Asp1270Tyr)
20g.32436674A>CCA408564151ASXL1c.3962A>C (p.Asp1321Ala)
c.3779A>C (p.Asp1260Ala)
n.6315A>C
c.1870-1756A>C (n.1870-1756A>C)
c.3947A>C (p.Asp1316Ala)
c.3959A>C (p.Asp1320Ala)
c.3932A>C (p.Asp1311Ala)
c.3878A>C (p.Asp1293Ala)
c.3278A>C (p.Asp1093Ala)
c.4226A>C (p.Asp1409Ala)
c.4223A>C (p.Asp1408Ala)
c.4142A>C (p.Asp1381Ala)
c.4073A>C (p.Asp1358Ala)
c.3941A>C (p.Asp1314Ala)
c.3809A>C (p.Asp1270Ala)
 dbSNP
20g.32436674A>GCA408564152ASXL1c.3962A>G (p.Asp1321Gly)
c.3779A>G (p.Asp1260Gly)
n.6315A>G
c.1870-1756A>G (n.1870-1756A>G)
c.3947A>G (p.Asp1316Gly)
c.3959A>G (p.Asp1320Gly)
c.3932A>G (p.Asp1311Gly)
c.3878A>G (p.Asp1293Gly)
c.3278A>G (p.Asp1093Gly)
c.4226A>G (p.Asp1409Gly)
c.4223A>G (p.Asp1408Gly)
c.4142A>G (p.Asp1381Gly)
c.4073A>G (p.Asp1358Gly)
c.3941A>G (p.Asp1314Gly)
c.3809A>G (p.Asp1270Gly)
20g.32436674A>TCA408564153ASXL1c.3962A>T (p.Asp1321Val)
c.3779A>T (p.Asp1260Val)
n.6315A>T
c.1870-1756A>T (n.1870-1756A>T)
c.3947A>T (p.Asp1316Val)
c.3959A>T (p.Asp1320Val)
c.3932A>T (p.Asp1311Val)
c.3878A>T (p.Asp1293Val)
c.3278A>T (p.Asp1093Val)
c.4226A>T (p.Asp1409Val)
c.4223A>T (p.Asp1408Val)
c.4142A>T (p.Asp1381Val)
c.4073A>T (p.Asp1358Val)
c.3941A>T (p.Asp1314Val)
c.3809A>T (p.Asp1270Val)
 dbSNP
20g.32436675C>ACA408564154ASXL1c.3963C>A (p.Asp1321Glu)
c.3780C>A (p.Asp1260Glu)
n.6316C>A
c.1870-1755C>A (n.1870-1755C>A)
c.3948C>A (p.Asp1316Glu)
c.3960C>A (p.Asp1320Glu)
c.3933C>A (p.Asp1311Glu)
c.3879C>A (p.Asp1293Glu)
c.3279C>A (p.Asp1093Glu)
c.4227C>A (p.Asp1409Glu)
c.4224C>A (p.Asp1408Glu)
c.4143C>A (p.Asp1381Glu)
c.4074C>A (p.Asp1358Glu)
c.3942C>A (p.Asp1314Glu)
c.3810C>A (p.Asp1270Glu)
 dbSNP
20g.32436675C>GCA408564155ASXL1c.3963C>G (p.Asp1321Glu)
c.3780C>G (p.Asp1260Glu)
n.6316C>G
c.1870-1755C>G (n.1870-1755C>G)
c.3948C>G (p.Asp1316Glu)
c.3960C>G (p.Asp1320Glu)
c.3933C>G (p.Asp1311Glu)
c.3879C>G (p.Asp1293Glu)
c.3279C>G (p.Asp1093Glu)
c.4227C>G (p.Asp1409Glu)
c.4224C>G (p.Asp1408Glu)
c.4143C>G (p.Asp1381Glu)
c.4074C>G (p.Asp1358Glu)
c.3942C>G (p.Asp1314Glu)
c.3810C>G (p.Asp1270Glu)
20g.32436675C>TCA510467530ASXL1c.3963C>T (p.Asp1321=)
c.3780C>T (p.Asp1260=)
n.6316C>T
c.1870-1755C>T (n.1870-1755C>T)
c.3948C>T (p.Asp1316=)
c.3960C>T (p.Asp1320=)
c.3933C>T (p.Asp1311=)
c.3879C>T (p.Asp1293=)
c.3279C>T (p.Asp1093=)
c.4227C>T (p.Asp1409=)
c.4224C>T (p.Asp1408=)
c.4143C>T (p.Asp1381=)
c.4074C>T (p.Asp1358=)
c.3942C>T (p.Asp1314=)
c.3810C>T (p.Asp1270=)
20g.32436676C>ACA408564156ASXL1c.3964C>A (p.Pro1322Thr)
c.3781C>A (p.Pro1261Thr)
n.6317C>A
c.1870-1754C>A (n.1870-1754C>A)
c.3949C>A (p.Pro1317Thr)
c.3961C>A (p.Pro1321Thr)
c.3934C>A (p.Pro1312Thr)
c.3880C>A (p.Pro1294Thr)
c.3280C>A (p.Pro1094Thr)
c.4228C>A (p.Pro1410Thr)
c.4225C>A (p.Pro1409Thr)
c.4144C>A (p.Pro1382Thr)
c.4075C>A (p.Pro1359Thr)
c.3943C>A (p.Pro1315Thr)
c.3811C>A (p.Pro1271Thr)
20g.32436676C=CA2360293812ASXL1c.3964C= (p.Pro1322=)
c.3781C= (p.Pro1261=)
n.6317C=
c.1870-1754C= (n.1870-1754C=)
c.3949C= (p.Pro1317=)
c.3961C= (p.Pro1321=)
c.3934C= (p.Pro1312=)
c.3880C= (p.Pro1294=)
c.3280C= (p.Pro1094=)
c.4228C= (p.Pro1410=)
c.4225C= (p.Pro1409=)
c.4144C= (p.Pro1382=)
c.4075C= (p.Pro1359=)
c.3943C= (p.Pro1315=)
c.3811C= (p.Pro1271=)
20g.32436676C>GCA408564157ASXL1c.3964C>G (p.Pro1322Ala)
c.3781C>G (p.Pro1261Ala)
n.6317C>G
c.1870-1754C>G (n.1870-1754C>G)
c.3949C>G (p.Pro1317Ala)
c.3961C>G (p.Pro1321Ala)
c.3934C>G (p.Pro1312Ala)
c.3880C>G (p.Pro1294Ala)
c.3280C>G (p.Pro1094Ala)
c.4228C>G (p.Pro1410Ala)
c.4225C>G (p.Pro1409Ala)
c.4144C>G (p.Pro1382Ala)
c.4075C>G (p.Pro1359Ala)
c.3943C>G (p.Pro1315Ala)
c.3811C>G (p.Pro1271Ala)
 dbSNP gnomAD v3 gnomAD v4
20g.32436676C>TCA408564158ASXL1c.3964C>T (p.Pro1322Ser)
c.3781C>T (p.Pro1261Ser)
n.6317C>T
c.1870-1754C>T (n.1870-1754C>T)
c.3949C>T (p.Pro1317Ser)
c.3961C>T (p.Pro1321Ser)
c.3934C>T (p.Pro1312Ser)
c.3880C>T (p.Pro1294Ser)
c.3280C>T (p.Pro1094Ser)
c.4228C>T (p.Pro1410Ser)
c.4225C>T (p.Pro1409Ser)
c.4144C>T (p.Pro1382Ser)
c.4075C>T (p.Pro1359Ser)
c.3943C>T (p.Pro1315Ser)
c.3811C>T (p.Pro1271Ser)
 dbSNP gnomAD v4
20g.32436677C>ACA408564159ASXL1c.3965C>A (p.Pro1322Gln)
c.3782C>A (p.Pro1261Gln)
n.6318C>A
c.1870-1753C>A (n.1870-1753C>A)
c.3950C>A (p.Pro1317Gln)
c.3962C>A (p.Pro1321Gln)
c.3935C>A (p.Pro1312Gln)
c.3881C>A (p.Pro1294Gln)
c.3281C>A (p.Pro1094Gln)
c.4229C>A (p.Pro1410Gln)
c.4226C>A (p.Pro1409Gln)
c.4145C>A (p.Pro1382Gln)
c.4076C>A (p.Pro1359Gln)
c.3944C>A (p.Pro1315Gln)
c.3812C>A (p.Pro1271Gln)
 dbSNP
20g.32436677C=CA2360293813ASXL1c.3965C= (p.Pro1322=)
c.3782C= (p.Pro1261=)
n.6318C=
c.1870-1753C= (n.1870-1753C=)
c.3950C= (p.Pro1317=)
c.3962C= (p.Pro1321=)
c.3935C= (p.Pro1312=)
c.3881C= (p.Pro1294=)
c.3281C= (p.Pro1094=)
c.4229C= (p.Pro1410=)
c.4226C= (p.Pro1409=)
c.4145C= (p.Pro1382=)
c.4076C= (p.Pro1359=)
c.3944C= (p.Pro1315=)
c.3812C= (p.Pro1271=)
20g.32436677C>GCA9808934ASXL1c.3965C>G (p.Pro1322Arg)
c.3782C>G (p.Pro1261Arg)
n.6318C>G
c.1870-1753C>G (n.1870-1753C>G)
c.3950C>G (p.Pro1317Arg)
c.3962C>G (p.Pro1321Arg)
c.3935C>G (p.Pro1312Arg)
c.3881C>G (p.Pro1294Arg)
c.3281C>G (p.Pro1094Arg)
c.4229C>G (p.Pro1410Arg)
c.4226C>G (p.Pro1409Arg)
c.4145C>G (p.Pro1382Arg)
c.4076C>G (p.Pro1359Arg)
c.3944C>G (p.Pro1315Arg)
c.3812C>G (p.Pro1271Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32436677C>TCA9808935ASXL1c.3965C>T (p.Pro1322Leu)
c.3782C>T (p.Pro1261Leu)
n.6318C>T
c.1870-1753C>T (n.1870-1753C>T)
c.3950C>T (p.Pro1317Leu)
c.3962C>T (p.Pro1321Leu)
c.3935C>T (p.Pro1312Leu)
c.3881C>T (p.Pro1294Leu)
c.3281C>T (p.Pro1094Leu)
c.4229C>T (p.Pro1410Leu)
c.4226C>T (p.Pro1409Leu)
c.4145C>T (p.Pro1382Leu)
c.4076C>T (p.Pro1359Leu)
c.3944C>T (p.Pro1315Leu)
c.3812C>T (p.Pro1271Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436678G>ACA9808936ASXL1c.3966G>A (p.Pro1322=)
c.3783G>A (p.Pro1261=)
n.6319G>A
c.1870-1752G>A (n.1870-1752G>A)
c.3951G>A (p.Pro1317=)
c.3963G>A (p.Pro1321=)
c.3936G>A (p.Pro1312=)
c.3882G>A (p.Pro1294=)
c.3282G>A (p.Pro1094=)
c.4230G>A (p.Pro1410=)
c.4227G>A (p.Pro1409=)
c.4146G>A (p.Pro1382=)
c.4077G>A (p.Pro1359=)
c.3945G>A (p.Pro1315=)
c.3813G>A (p.Pro1271=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436678G>CCA510467531ASXL1c.3966G>C (p.Pro1322=)
c.3783G>C (p.Pro1261=)
n.6319G>C
c.1870-1752G>C (n.1870-1752G>C)
c.3951G>C (p.Pro1317=)
c.3963G>C (p.Pro1321=)
c.3936G>C (p.Pro1312=)
c.3882G>C (p.Pro1294=)
c.3282G>C (p.Pro1094=)
c.4230G>C (p.Pro1410=)
c.4227G>C (p.Pro1409=)
c.4146G>C (p.Pro1382=)
c.4077G>C (p.Pro1359=)
c.3945G>C (p.Pro1315=)
c.3813G>C (p.Pro1271=)
 dbSNP
20g.32436678G=CA2360293814ASXL1c.3966G= (p.Pro1322=)
c.3783G= (p.Pro1261=)
n.6319G=
c.1870-1752G= (n.1870-1752G=)
c.3951G= (p.Pro1317=)
c.3963G= (p.Pro1321=)
c.3936G= (p.Pro1312=)
c.3882G= (p.Pro1294=)
c.3282G= (p.Pro1094=)
c.4230G= (p.Pro1410=)
c.4227G= (p.Pro1409=)
c.4146G= (p.Pro1382=)
c.4077G= (p.Pro1359=)
c.3945G= (p.Pro1315=)
c.3813G= (p.Pro1271=)
20g.32436678G>TCA510467532ASXL1c.3966G>T (p.Pro1322=)
c.3783G>T (p.Pro1261=)
n.6319G>T
c.1870-1752G>T (n.1870-1752G>T)
c.3951G>T (p.Pro1317=)
c.3963G>T (p.Pro1321=)
c.3936G>T (p.Pro1312=)
c.3882G>T (p.Pro1294=)
c.3282G>T (p.Pro1094=)
c.4230G>T (p.Pro1410=)
c.4227G>T (p.Pro1409=)
c.4146G>T (p.Pro1382=)
c.4077G>T (p.Pro1359=)
c.3945G>T (p.Pro1315=)
c.3813G>T (p.Pro1271=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.32436678_32436679delCA635268571ASXL1c.3966_3967del (p.Met1323AlafsTer5)
c.3783_3784del (p.Met1262AlafsTer5)
n.6319_6320del
c.1870-1752_1870-1751del (n.1870-1752_1870-1751del)
c.3951_3952del (p.Met1318AlafsTer5)
c.3963_3964del (p.Met1322AlafsTer5)
c.3936_3937del (p.Met1313AlafsTer5)
c.3882_3883del (p.Met1295AlafsTer5)
c.3282_3283del (p.Met1095AlafsTer5)
c.4230_4231del (p.Met1411AlafsTer5)
c.4227_4228del (p.Met1410AlafsTer5)
c.4146_4147del (p.Met1383AlafsTer5)
c.4077_4078del (p.Met1360AlafsTer5)
c.3945_3946del (p.Met1316AlafsTer5)
c.3813_3814del (p.Met1272AlafsTer5)
 gnomAD v2 gnomAD v4
20g.32436679A=CA2360293815ASXL1c.3967A= (p.Met1323=)
c.3784A= (p.Met1262=)
n.6320A=
c.1870-1751A= (n.1870-1751A=)
c.3952A= (p.Met1318=)
c.3964A= (p.Met1322=)
c.3937A= (p.Met1313=)
c.3883A= (p.Met1295=)
c.3283A= (p.Met1095=)
c.4231A= (p.Met1411=)
c.4228A= (p.Met1410=)
c.4147A= (p.Met1383=)
c.4078A= (p.Met1360=)
c.3946A= (p.Met1316=)
c.3814A= (p.Met1272=)
20g.32436679A>CCA408564160ASXL1c.3967A>C (p.Met1323Leu)
c.3784A>C (p.Met1262Leu)
n.6320A>C
c.1870-1751A>C (n.1870-1751A>C)
c.3952A>C (p.Met1318Leu)
c.3964A>C (p.Met1322Leu)
c.3937A>C (p.Met1313Leu)
c.3883A>C (p.Met1295Leu)
c.3283A>C (p.Met1095Leu)
c.4231A>C (p.Met1411Leu)
c.4228A>C (p.Met1410Leu)
c.4147A>C (p.Met1383Leu)
c.4078A>C (p.Met1360Leu)
c.3946A>C (p.Met1316Leu)
c.3814A>C (p.Met1272Leu)
20g.32436679A>GCA408564161ASXL1c.3967A>G (p.Met1323Val)
c.3784A>G (p.Met1262Val)
n.6320A>G
c.1870-1751A>G (n.1870-1751A>G)
c.3952A>G (p.Met1318Val)
c.3964A>G (p.Met1322Val)
c.3937A>G (p.Met1313Val)
c.3883A>G (p.Met1295Val)
c.3283A>G (p.Met1095Val)
c.4231A>G (p.Met1411Val)
c.4228A>G (p.Met1410Val)
c.4147A>G (p.Met1383Val)
c.4078A>G (p.Met1360Val)
c.3946A>G (p.Met1316Val)
c.3814A>G (p.Met1272Val)
 dbSNP gnomAD v4 COSMIC COSMIC
20g.32436679A>TCA408564162ASXL1c.3967A>T (p.Met1323Leu)
c.3784A>T (p.Met1262Leu)
n.6320A>T
c.1870-1751A>T (n.1870-1751A>T)
c.3952A>T (p.Met1318Leu)
c.3964A>T (p.Met1322Leu)
c.3937A>T (p.Met1313Leu)
c.3883A>T (p.Met1295Leu)
c.3283A>T (p.Met1095Leu)
c.4231A>T (p.Met1411Leu)
c.4228A>T (p.Met1410Leu)
c.4147A>T (p.Met1383Leu)
c.4078A>T (p.Met1360Leu)
c.3946A>T (p.Met1316Leu)
c.3814A>T (p.Met1272Leu)
 dbSNP
20g.32436680T>ACA408564163ASXL1c.3968T>A (p.Met1323Lys)
c.3785T>A (p.Met1262Lys)
n.6321T>A
c.1870-1750T>A (n.1870-1750T>A)
c.3953T>A (p.Met1318Lys)
c.3965T>A (p.Met1322Lys)
c.3938T>A (p.Met1313Lys)
c.3884T>A (p.Met1295Lys)
c.3284T>A (p.Met1095Lys)
c.4232T>A (p.Met1411Lys)
c.4229T>A (p.Met1410Lys)
c.4148T>A (p.Met1383Lys)
c.4079T>A (p.Met1360Lys)
c.3947T>A (p.Met1316Lys)
c.3815T>A (p.Met1272Lys)
20g.32436680T>CCA408564164ASXL1c.3968T>C (p.Met1323Thr)
c.3785T>C (p.Met1262Thr)
n.6321T>C
c.1870-1750T>C (n.1870-1750T>C)
c.3953T>C (p.Met1318Thr)
c.3965T>C (p.Met1322Thr)
c.3938T>C (p.Met1313Thr)
c.3884T>C (p.Met1295Thr)
c.3284T>C (p.Met1095Thr)
c.4232T>C (p.Met1411Thr)
c.4229T>C (p.Met1410Thr)
c.4148T>C (p.Met1383Thr)
c.4079T>C (p.Met1360Thr)
c.3947T>C (p.Met1316Thr)
c.3815T>C (p.Met1272Thr)
20g.32436680T>GCA408564165ASXL1c.3968T>G (p.Met1323Arg)
c.3785T>G (p.Met1262Arg)
n.6321T>G
c.1870-1750T>G (n.1870-1750T>G)
c.3953T>G (p.Met1318Arg)
c.3965T>G (p.Met1322Arg)
c.3938T>G (p.Met1313Arg)
c.3884T>G (p.Met1295Arg)
c.3284T>G (p.Met1095Arg)
c.4232T>G (p.Met1411Arg)
c.4229T>G (p.Met1410Arg)
c.4148T>G (p.Met1383Arg)
c.4079T>G (p.Met1360Arg)
c.3947T>G (p.Met1316Arg)
c.3815T>G (p.Met1272Arg)
 dbSNP gnomAD v3 gnomAD v4
20g.32436680T=CA2360293816ASXL1c.3968T= (p.Met1323=)
c.3785T= (p.Met1262=)
n.6321T=
c.1870-1750T= (n.1870-1750T=)
c.3953T= (p.Met1318=)
c.3965T= (p.Met1322=)
c.3938T= (p.Met1313=)
c.3884T= (p.Met1295=)
c.3284T= (p.Met1095=)
c.4232T= (p.Met1411=)
c.4229T= (p.Met1410=)
c.4148T= (p.Met1383=)
c.4079T= (p.Met1360=)
c.3947T= (p.Met1316=)
c.3815T= (p.Met1272=)
20g.32436681G>ACA408564166ASXL1c.3969G>A (p.Met1323Ile)
c.3786G>A (p.Met1262Ile)
n.6322G>A
c.1870-1749G>A (n.1870-1749G>A)
c.3954G>A (p.Met1318Ile)
c.3966G>A (p.Met1322Ile)
c.3939G>A (p.Met1313Ile)
c.3885G>A (p.Met1295Ile)
c.3285G>A (p.Met1095Ile)
c.4233G>A (p.Met1411Ile)
c.4230G>A (p.Met1410Ile)
c.4149G>A (p.Met1383Ile)
c.4080G>A (p.Met1360Ile)
c.3948G>A (p.Met1316Ile)
c.3816G>A (p.Met1272Ile)
 dbSNP gnomAD v4
20g.32436681G>CCA408564167ASXL1c.3969G>C (p.Met1323Ile)
c.3786G>C (p.Met1262Ile)
n.6322G>C
c.1870-1749G>C (n.1870-1749G>C)
c.3954G>C (p.Met1318Ile)
c.3966G>C (p.Met1322Ile)
c.3939G>C (p.Met1313Ile)
c.3885G>C (p.Met1295Ile)
c.3285G>C (p.Met1095Ile)
c.4233G>C (p.Met1411Ile)
c.4230G>C (p.Met1410Ile)
c.4149G>C (p.Met1383Ile)
c.4080G>C (p.Met1360Ile)
c.3948G>C (p.Met1316Ile)
c.3816G>C (p.Met1272Ile)
 ClinVar
20g.32436681G>TCA408564168ASXL1c.3969G>T (p.Met1323Ile)
c.3786G>T (p.Met1262Ile)
n.6322G>T
c.1870-1749G>T (n.1870-1749G>T)
c.3954G>T (p.Met1318Ile)
c.3966G>T (p.Met1322Ile)
c.3939G>T (p.Met1313Ile)
c.3885G>T (p.Met1295Ile)
c.3285G>T (p.Met1095Ile)
c.4233G>T (p.Met1411Ile)
c.4230G>T (p.Met1410Ile)
c.4149G>T (p.Met1383Ile)
c.4080G>T (p.Met1360Ile)
c.3948G>T (p.Met1316Ile)
c.3816G>T (p.Met1272Ile)
20g.32436682C>ACA408564169ASXL1c.3970C>A (p.Pro1324Thr)
c.3787C>A (p.Pro1263Thr)
n.6323C>A
c.1870-1748C>A (n.1870-1748C>A)
c.3955C>A (p.Pro1319Thr)
c.3967C>A (p.Pro1323Thr)
c.3940C>A (p.Pro1314Thr)
c.3886C>A (p.Pro1296Thr)
c.3286C>A (p.Pro1096Thr)
c.4234C>A (p.Pro1412Thr)
c.4231C>A (p.Pro1411Thr)
c.4150C>A (p.Pro1384Thr)
c.4081C>A (p.Pro1361Thr)
c.3949C>A (p.Pro1317Thr)
c.3817C>A (p.Pro1273Thr)
 gnomAD v4
20g.32436682C>GCA408564170ASXL1c.3970C>G (p.Pro1324Ala)
c.3787C>G (p.Pro1263Ala)
n.6323C>G
c.1870-1748C>G (n.1870-1748C>G)
c.3955C>G (p.Pro1319Ala)
c.3967C>G (p.Pro1323Ala)
c.3940C>G (p.Pro1314Ala)
c.3886C>G (p.Pro1296Ala)
c.3286C>G (p.Pro1096Ala)
c.4234C>G (p.Pro1412Ala)
c.4231C>G (p.Pro1411Ala)
c.4150C>G (p.Pro1384Ala)
c.4081C>G (p.Pro1361Ala)
c.3949C>G (p.Pro1317Ala)
c.3817C>G (p.Pro1273Ala)
 gnomAD v4
20g.32436682C>TCA408564171ASXL1c.3970C>T (p.Pro1324Ser)
c.3787C>T (p.Pro1263Ser)
n.6323C>T
c.1870-1748C>T (n.1870-1748C>T)
c.3955C>T (p.Pro1319Ser)
c.3967C>T (p.Pro1323Ser)
c.3940C>T (p.Pro1314Ser)
c.3886C>T (p.Pro1296Ser)
c.3286C>T (p.Pro1096Ser)
c.4234C>T (p.Pro1412Ser)
c.4231C>T (p.Pro1411Ser)
c.4150C>T (p.Pro1384Ser)
c.4081C>T (p.Pro1361Ser)
c.3949C>T (p.Pro1317Ser)
c.3817C>T (p.Pro1273Ser)
 dbSNP
20g.32436683C>ACA408564174ASXL1c.3971C>A (p.Pro1324His)
c.3788C>A (p.Pro1263His)
n.6324C>A
c.1870-1747C>A (n.1870-1747C>A)
c.3956C>A (p.Pro1319His)
c.3968C>A (p.Pro1323His)
c.3941C>A (p.Pro1314His)
c.3887C>A (p.Pro1296His)
c.3287C>A (p.Pro1096His)
c.4235C>A (p.Pro1412His)
c.4232C>A (p.Pro1411His)
c.4151C>A (p.Pro1384His)
c.4082C>A (p.Pro1361His)
c.3950C>A (p.Pro1317His)
c.3818C>A (p.Pro1273His)
20g.32436683C>GCA408564173ASXL1c.3971C>G (p.Pro1324Arg)
c.3788C>G (p.Pro1263Arg)
n.6324C>G
c.1870-1747C>G (n.1870-1747C>G)
c.3956C>G (p.Pro1319Arg)
c.3968C>G (p.Pro1323Arg)
c.3941C>G (p.Pro1314Arg)
c.3887C>G (p.Pro1296Arg)
c.3287C>G (p.Pro1096Arg)
c.4235C>G (p.Pro1412Arg)
c.4232C>G (p.Pro1411Arg)
c.4151C>G (p.Pro1384Arg)
c.4082C>G (p.Pro1361Arg)
c.3950C>G (p.Pro1317Arg)
c.3818C>G (p.Pro1273Arg)
20g.32436683C>TCA408564172ASXL1c.3971C>T (p.Pro1324Leu)
c.3788C>T (p.Pro1263Leu)
n.6324C>T
c.1870-1747C>T (n.1870-1747C>T)
c.3956C>T (p.Pro1319Leu)
c.3968C>T (p.Pro1323Leu)
c.3941C>T (p.Pro1314Leu)
c.3887C>T (p.Pro1296Leu)
c.3287C>T (p.Pro1096Leu)
c.4235C>T (p.Pro1412Leu)
c.4232C>T (p.Pro1411Leu)
c.4151C>T (p.Pro1384Leu)
c.4082C>T (p.Pro1361Leu)
c.3950C>T (p.Pro1317Leu)
c.3818C>T (p.Pro1273Leu)
 gnomAD v4
20g.32436684T>ACA510467534ASXL1c.3972T>A (p.Pro1324=)
c.3789T>A (p.Pro1263=)
n.6325T>A
c.1870-1746T>A (n.1870-1746T>A)
c.3957T>A (p.Pro1319=)
c.3969T>A (p.Pro1323=)
c.3942T>A (p.Pro1314=)
c.3888T>A (p.Pro1296=)
c.3288T>A (p.Pro1096=)
c.4236T>A (p.Pro1412=)
c.4233T>A (p.Pro1411=)
c.4152T>A (p.Pro1384=)
c.4083T>A (p.Pro1361=)
c.3951T>A (p.Pro1317=)
c.3819T>A (p.Pro1273=)
20g.32436684T>CCA9808937ASXL1c.3972T>C (p.Pro1324=)
c.3789T>C (p.Pro1263=)
n.6325T>C
c.1870-1746T>C (n.1870-1746T>C)
c.3957T>C (p.Pro1319=)
c.3969T>C (p.Pro1323=)
c.3942T>C (p.Pro1314=)
c.3888T>C (p.Pro1296=)
c.3288T>C (p.Pro1096=)
c.4236T>C (p.Pro1412=)
c.4233T>C (p.Pro1411=)
c.4152T>C (p.Pro1384=)
c.4083T>C (p.Pro1361=)
c.3951T>C (p.Pro1317=)
c.3819T>C (p.Pro1273=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436684T>GCA510467533ASXL1c.3972T>G (p.Pro1324=)
c.3789T>G (p.Pro1263=)
n.6325T>G
c.1870-1746T>G (n.1870-1746T>G)
c.3957T>G (p.Pro1319=)
c.3969T>G (p.Pro1323=)
c.3942T>G (p.Pro1314=)
c.3888T>G (p.Pro1296=)
c.3288T>G (p.Pro1096=)
c.4236T>G (p.Pro1412=)
c.4233T>G (p.Pro1411=)
c.4152T>G (p.Pro1384=)
c.4083T>G (p.Pro1361=)
c.3951T>G (p.Pro1317=)
c.3819T>G (p.Pro1273=)
20g.32436684T=CA2360293817ASXL1c.3972T= (p.Pro1324=)
c.3789T= (p.Pro1263=)
n.6325T=
c.1870-1746T= (n.1870-1746T=)
c.3957T= (p.Pro1319=)
c.3969T= (p.Pro1323=)
c.3942T= (p.Pro1314=)
c.3888T= (p.Pro1296=)
c.3288T= (p.Pro1096=)
c.4236T= (p.Pro1412=)
c.4233T= (p.Pro1411=)
c.4152T= (p.Pro1384=)
c.4083T= (p.Pro1361=)
c.3951T= (p.Pro1317=)
c.3819T= (p.Pro1273=)
20g.32436684_32436685delinsCTCA2573156975ASXL1c.3972_3973delinsCT (p.Leu1325Phe)
c.3789_3790delinsCT (p.Leu1264Phe)
n.6325_6326delinsCT
c.1870-1746_1870-1745delinsCT (n.1870-1746_1870-1745delinsCT)
c.3957_3958delinsCT (p.Leu1320Phe)
c.3969_3970delinsCT (p.Leu1324Phe)
c.3942_3943delinsCT (p.Leu1315Phe)
c.3888_3889delinsCT (p.Leu1297Phe)
c.3288_3289delinsCT (p.Leu1097Phe)
c.4236_4237delinsCT (p.Leu1413Phe)
c.4233_4234delinsCT (p.Leu1412Phe)
c.4152_4153delinsCT (p.Leu1385Phe)
c.4083_4084delinsCT (p.Leu1362Phe)
c.3951_3952delinsCT (p.Leu1318Phe)
c.3819_3820delinsCT (p.Leu1274Phe)
 ClinVar dbSNP
20g.32436685C>ACA408564175ASXL1c.3973C>A (p.Leu1325Ile)
c.3790C>A (p.Leu1264Ile)
n.6326C>A
c.1870-1745C>A (n.1870-1745C>A)
c.3958C>A (p.Leu1320Ile)
c.3970C>A (p.Leu1324Ile)
c.3943C>A (p.Leu1315Ile)
c.3889C>A (p.Leu1297Ile)
c.3289C>A (p.Leu1097Ile)
c.4237C>A (p.Leu1413Ile)
c.4234C>A (p.Leu1412Ile)
c.4153C>A (p.Leu1385Ile)
c.4084C>A (p.Leu1362Ile)
c.3952C>A (p.Leu1318Ile)
c.3820C>A (p.Leu1274Ile)
20g.32436685C=CA2360293818ASXL1c.3973C= (p.Leu1325=)
c.3790C= (p.Leu1264=)
n.6326C=
c.1870-1745C= (n.1870-1745C=)
c.3958C= (p.Leu1320=)
c.3970C= (p.Leu1324=)
c.3943C= (p.Leu1315=)
c.3889C= (p.Leu1297=)
c.3289C= (p.Leu1097=)
c.4237C= (p.Leu1413=)
c.4234C= (p.Leu1412=)
c.4153C= (p.Leu1385=)
c.4084C= (p.Leu1362=)
c.3952C= (p.Leu1318=)
c.3820C= (p.Leu1274=)
20g.32436685C>GCA408564176ASXL1c.3973C>G (p.Leu1325Val)
c.3790C>G (p.Leu1264Val)
n.6326C>G
c.1870-1745C>G (n.1870-1745C>G)
c.3958C>G (p.Leu1320Val)
c.3970C>G (p.Leu1324Val)
c.3943C>G (p.Leu1315Val)
c.3889C>G (p.Leu1297Val)
c.3289C>G (p.Leu1097Val)
c.4237C>G (p.Leu1413Val)
c.4234C>G (p.Leu1412Val)
c.4153C>G (p.Leu1385Val)
c.4084C>G (p.Leu1362Val)
c.3952C>G (p.Leu1318Val)
c.3820C>G (p.Leu1274Val)
20g.32436685C>TCA157020ASXL1c.3973C>T (p.Leu1325Phe)
c.3790C>T (p.Leu1264Phe)
n.6326C>T
c.1870-1745C>T (n.1870-1745C>T)
c.3958C>T (p.Leu1320Phe)
c.3970C>T (p.Leu1324Phe)
c.3943C>T (p.Leu1315Phe)
c.3889C>T (p.Leu1297Phe)
c.3289C>T (p.Leu1097Phe)
c.4237C>T (p.Leu1413Phe)
c.4234C>T (p.Leu1412Phe)
c.4153C>T (p.Leu1385Phe)
c.4084C>T (p.Leu1362Phe)
c.3952C>T (p.Leu1318Phe)
c.3820C>T (p.Leu1274Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436686T>ACA408564177ASXL1c.3974T>A (p.Leu1325His)
c.3791T>A (p.Leu1264His)
n.6327T>A
c.1870-1744T>A (n.1870-1744T>A)
c.3959T>A (p.Leu1320His)
c.3971T>A (p.Leu1324His)
c.3944T>A (p.Leu1315His)
c.3890T>A (p.Leu1297His)
c.3290T>A (p.Leu1097His)
c.4238T>A (p.Leu1413His)
c.4235T>A (p.Leu1412His)
c.4154T>A (p.Leu1385His)
c.4085T>A (p.Leu1362His)
c.3953T>A (p.Leu1318His)
c.3821T>A (p.Leu1274His)
20g.32436686T>CCA408564178ASXL1c.3974T>C (p.Leu1325Pro)
c.3791T>C (p.Leu1264Pro)
n.6327T>C
c.1870-1744T>C (n.1870-1744T>C)
c.3959T>C (p.Leu1320Pro)
c.3971T>C (p.Leu1324Pro)
c.3944T>C (p.Leu1315Pro)
c.3890T>C (p.Leu1297Pro)
c.3290T>C (p.Leu1097Pro)
c.4238T>C (p.Leu1413Pro)
c.4235T>C (p.Leu1412Pro)
c.4154T>C (p.Leu1385Pro)
c.4085T>C (p.Leu1362Pro)
c.3953T>C (p.Leu1318Pro)
c.3821T>C (p.Leu1274Pro)
20g.32436686T>GCA408564179ASXL1c.3974T>G (p.Leu1325Arg)
c.3791T>G (p.Leu1264Arg)
n.6327T>G
c.1870-1744T>G (n.1870-1744T>G)
c.3959T>G (p.Leu1320Arg)
c.3971T>G (p.Leu1324Arg)
c.3944T>G (p.Leu1315Arg)
c.3890T>G (p.Leu1297Arg)
c.3290T>G (p.Leu1097Arg)
c.4238T>G (p.Leu1413Arg)
c.4235T>G (p.Leu1412Arg)
c.4154T>G (p.Leu1385Arg)
c.4085T>G (p.Leu1362Arg)
c.3953T>G (p.Leu1318Arg)
c.3821T>G (p.Leu1274Arg)
20g.32436687T>ACA510467535ASXL1c.3975T>A (p.Leu1325=)
c.3792T>A (p.Leu1264=)
n.6328T>A
c.1870-1743T>A (n.1870-1743T>A)
c.3960T>A (p.Leu1320=)
c.3972T>A (p.Leu1324=)
c.3945T>A (p.Leu1315=)
c.3891T>A (p.Leu1297=)
c.3291T>A (p.Leu1097=)
c.4239T>A (p.Leu1413=)
c.4236T>A (p.Leu1412=)
c.4155T>A (p.Leu1385=)
c.4086T>A (p.Leu1362=)
c.3954T>A (p.Leu1318=)
c.3822T>A (p.Leu1274=)
20g.32436687T>CCA510467536ASXL1c.3975T>C (p.Leu1325=)
c.3792T>C (p.Leu1264=)
n.6328T>C
c.1870-1743T>C (n.1870-1743T>C)
c.3960T>C (p.Leu1320=)
c.3972T>C (p.Leu1324=)
c.3945T>C (p.Leu1315=)
c.3891T>C (p.Leu1297=)
c.3291T>C (p.Leu1097=)
c.4239T>C (p.Leu1413=)
c.4236T>C (p.Leu1412=)
c.4155T>C (p.Leu1385=)
c.4086T>C (p.Leu1362=)
c.3954T>C (p.Leu1318=)
c.3822T>C (p.Leu1274=)
 gnomAD v4
20g.32436687T>GCA510467537ASXL1c.3975T>G (p.Leu1325=)
c.3792T>G (p.Leu1264=)
n.6328T>G
c.1870-1743T>G (n.1870-1743T>G)
c.3960T>G (p.Leu1320=)
c.3972T>G (p.Leu1324=)
c.3945T>G (p.Leu1315=)
c.3891T>G (p.Leu1297=)
c.3291T>G (p.Leu1097=)
c.4239T>G (p.Leu1413=)
c.4236T>G (p.Leu1412=)
c.4155T>G (p.Leu1385=)
c.4086T>G (p.Leu1362=)
c.3954T>G (p.Leu1318=)
c.3822T>G (p.Leu1274=)
20g.32436688C>ACA408564180ASXL1c.3976C>A (p.Pro1326Thr)
c.3793C>A (p.Pro1265Thr)
n.6329C>A
c.1870-1742C>A (n.1870-1742C>A)
c.3961C>A (p.Pro1321Thr)
c.3973C>A (p.Pro1325Thr)
c.3946C>A (p.Pro1316Thr)
c.3892C>A (p.Pro1298Thr)
c.3292C>A (p.Pro1098Thr)
c.4240C>A (p.Pro1414Thr)
c.4237C>A (p.Pro1413Thr)
c.4156C>A (p.Pro1386Thr)
c.4087C>A (p.Pro1363Thr)
c.3955C>A (p.Pro1319Thr)
c.3823C>A (p.Pro1275Thr)
20g.32436688C>GCA408564181ASXL1c.3976C>G (p.Pro1326Ala)
c.3793C>G (p.Pro1265Ala)
n.6329C>G
c.1870-1742C>G (n.1870-1742C>G)
c.3961C>G (p.Pro1321Ala)
c.3973C>G (p.Pro1325Ala)
c.3946C>G (p.Pro1316Ala)
c.3892C>G (p.Pro1298Ala)
c.3292C>G (p.Pro1098Ala)
c.4240C>G (p.Pro1414Ala)
c.4237C>G (p.Pro1413Ala)
c.4156C>G (p.Pro1386Ala)
c.4087C>G (p.Pro1363Ala)
c.3955C>G (p.Pro1319Ala)
c.3823C>G (p.Pro1275Ala)
20g.32436688C>TCA408564182ASXL1c.3976C>T (p.Pro1326Ser)
c.3793C>T (p.Pro1265Ser)
n.6329C>T
c.1870-1742C>T (n.1870-1742C>T)
c.3961C>T (p.Pro1321Ser)
c.3973C>T (p.Pro1325Ser)
c.3946C>T (p.Pro1316Ser)
c.3892C>T (p.Pro1298Ser)
c.3292C>T (p.Pro1098Ser)
c.4240C>T (p.Pro1414Ser)
c.4237C>T (p.Pro1413Ser)
c.4156C>T (p.Pro1386Ser)
c.4087C>T (p.Pro1363Ser)
c.3955C>T (p.Pro1319Ser)
c.3823C>T (p.Pro1275Ser)
20g.32436689C>ACA408564183ASXL1c.3977C>A (p.Pro1326His)
c.3794C>A (p.Pro1265His)
n.6330C>A
c.1870-1741C>A (n.1870-1741C>A)
c.3962C>A (p.Pro1321His)
c.3974C>A (p.Pro1325His)
c.3947C>A (p.Pro1316His)
c.3893C>A (p.Pro1298His)
c.3293C>A (p.Pro1098His)
c.4241C>A (p.Pro1414His)
c.4238C>A (p.Pro1413His)
c.4157C>A (p.Pro1386His)
c.4088C>A (p.Pro1363His)
c.3956C>A (p.Pro1319His)
c.3824C>A (p.Pro1275His)
20g.32436689C=CA2360293819ASXL1c.3977C= (p.Pro1326=)
c.3794C= (p.Pro1265=)
n.6330C=
c.1870-1741C= (n.1870-1741C=)
c.3962C= (p.Pro1321=)
c.3974C= (p.Pro1325=)
c.3947C= (p.Pro1316=)
c.3893C= (p.Pro1298=)
c.3293C= (p.Pro1098=)
c.4241C= (p.Pro1414=)
c.4238C= (p.Pro1413=)
c.4157C= (p.Pro1386=)
c.4088C= (p.Pro1363=)
c.3956C= (p.Pro1319=)
c.3824C= (p.Pro1275=)
20g.32436689C>GCA9808938ASXL1c.3977C>G (p.Pro1326Arg)
c.3794C>G (p.Pro1265Arg)
n.6330C>G
c.1870-1741C>G (n.1870-1741C>G)
c.3962C>G (p.Pro1321Arg)
c.3974C>G (p.Pro1325Arg)
c.3947C>G (p.Pro1316Arg)
c.3893C>G (p.Pro1298Arg)
c.3293C>G (p.Pro1098Arg)
c.4241C>G (p.Pro1414Arg)
c.4238C>G (p.Pro1413Arg)
c.4157C>G (p.Pro1386Arg)
c.4088C>G (p.Pro1363Arg)
c.3956C>G (p.Pro1319Arg)
c.3824C>G (p.Pro1275Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436689C>TCA9808939ASXL1c.3977C>T (p.Pro1326Leu)
c.3794C>T (p.Pro1265Leu)
n.6330C>T
c.1870-1741C>T (n.1870-1741C>T)
c.3962C>T (p.Pro1321Leu)
c.3974C>T (p.Pro1325Leu)
c.3947C>T (p.Pro1316Leu)
c.3893C>T (p.Pro1298Leu)
c.3293C>T (p.Pro1098Leu)
c.4241C>T (p.Pro1414Leu)
c.4238C>T (p.Pro1413Leu)
c.4157C>T (p.Pro1386Leu)
c.4088C>T (p.Pro1363Leu)
c.3956C>T (p.Pro1319Leu)
c.3824C>T (p.Pro1275Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436690T>ACA510467538ASXL1c.3978T>A (p.Pro1326=)
c.3795T>A (p.Pro1265=)
n.6331T>A
c.1870-1740T>A (n.1870-1740T>A)
c.3963T>A (p.Pro1321=)
c.3975T>A (p.Pro1325=)
c.3948T>A (p.Pro1316=)
c.3894T>A (p.Pro1298=)
c.3294T>A (p.Pro1098=)
c.4242T>A (p.Pro1414=)
c.4239T>A (p.Pro1413=)
c.4158T>A (p.Pro1386=)
c.4089T>A (p.Pro1363=)
c.3957T>A (p.Pro1319=)
c.3825T>A (p.Pro1275=)
20g.32436690T>CCA510467539ASXL1c.3978T>C (p.Pro1326=)
c.3795T>C (p.Pro1265=)
n.6331T>C
c.1870-1740T>C (n.1870-1740T>C)
c.3963T>C (p.Pro1321=)
c.3975T>C (p.Pro1325=)
c.3948T>C (p.Pro1316=)
c.3894T>C (p.Pro1298=)
c.3294T>C (p.Pro1098=)
c.4242T>C (p.Pro1414=)
c.4239T>C (p.Pro1413=)
c.4158T>C (p.Pro1386=)
c.4089T>C (p.Pro1363=)
c.3957T>C (p.Pro1319=)
c.3825T>C (p.Pro1275=)
 ClinVar
20g.32436690T>GCA510467540ASXL1c.3978T>G (p.Pro1326=)
c.3795T>G (p.Pro1265=)
n.6331T>G
c.1870-1740T>G (n.1870-1740T>G)
c.3963T>G (p.Pro1321=)
c.3975T>G (p.Pro1325=)
c.3948T>G (p.Pro1316=)
c.3894T>G (p.Pro1298=)
c.3294T>G (p.Pro1098=)
c.4242T>G (p.Pro1414=)
c.4239T>G (p.Pro1413=)
c.4158T>G (p.Pro1386=)
c.4089T>G (p.Pro1363=)
c.3957T>G (p.Pro1319=)
c.3825T>G (p.Pro1275=)
20g.32436691G>ACA408564185ASXL1c.3979G>A (p.Ala1327Thr)
c.3796G>A (p.Ala1266Thr)
n.6332G>A
c.1870-1739G>A (n.1870-1739G>A)
c.3964G>A (p.Ala1322Thr)
c.3976G>A (p.Ala1326Thr)
c.3949G>A (p.Ala1317Thr)
c.3895G>A (p.Ala1299Thr)
c.3295G>A (p.Ala1099Thr)
c.4243G>A (p.Ala1415Thr)
c.4240G>A (p.Ala1414Thr)
c.4159G>A (p.Ala1387Thr)
c.4090G>A (p.Ala1364Thr)
c.3958G>A (p.Ala1320Thr)
c.3826G>A (p.Ala1276Thr)
 dbSNP
20g.32436691G>CCA408564186ASXL1c.3979G>C (p.Ala1327Pro)
c.3796G>C (p.Ala1266Pro)
n.6332G>C
c.1870-1739G>C (n.1870-1739G>C)
c.3964G>C (p.Ala1322Pro)
c.3976G>C (p.Ala1326Pro)
c.3949G>C (p.Ala1317Pro)
c.3895G>C (p.Ala1299Pro)
c.3295G>C (p.Ala1099Pro)
c.4243G>C (p.Ala1415Pro)
c.4240G>C (p.Ala1414Pro)
c.4159G>C (p.Ala1387Pro)
c.4090G>C (p.Ala1364Pro)
c.3958G>C (p.Ala1320Pro)
c.3826G>C (p.Ala1276Pro)
 dbSNP
20g.32436691G>TCA408564184ASXL1c.3979G>T (p.Ala1327Ser)
c.3796G>T (p.Ala1266Ser)
n.6332G>T
c.1870-1739G>T (n.1870-1739G>T)
c.3964G>T (p.Ala1322Ser)
c.3976G>T (p.Ala1326Ser)
c.3949G>T (p.Ala1317Ser)
c.3895G>T (p.Ala1299Ser)
c.3295G>T (p.Ala1099Ser)
c.4243G>T (p.Ala1415Ser)
c.4240G>T (p.Ala1414Ser)
c.4159G>T (p.Ala1387Ser)
c.4090G>T (p.Ala1364Ser)
c.3958G>T (p.Ala1320Ser)
c.3826G>T (p.Ala1276Ser)
20g.32436692C>ACA408564188ASXL1c.3980C>A (p.Ala1327Asp)
c.3797C>A (p.Ala1266Asp)
n.6333C>A
c.1870-1738C>A (n.1870-1738C>A)
c.3965C>A (p.Ala1322Asp)
c.3977C>A (p.Ala1326Asp)
c.3950C>A (p.Ala1317Asp)
c.3896C>A (p.Ala1299Asp)
c.3296C>A (p.Ala1099Asp)
c.4244C>A (p.Ala1415Asp)
c.4241C>A (p.Ala1414Asp)
c.4160C>A (p.Ala1387Asp)
c.4091C>A (p.Ala1364Asp)
c.3959C>A (p.Ala1320Asp)
c.3827C>A (p.Ala1276Asp)
 dbSNP
20g.32436692C=CA2360293820ASXL1c.3980C= (p.Ala1327=)
c.3797C= (p.Ala1266=)
n.6333C=
c.1870-1738C= (n.1870-1738C=)
c.3965C= (p.Ala1322=)
c.3977C= (p.Ala1326=)
c.3950C= (p.Ala1317=)
c.3896C= (p.Ala1299=)
c.3296C= (p.Ala1099=)
c.4244C= (p.Ala1415=)
c.4241C= (p.Ala1414=)
c.4160C= (p.Ala1387=)
c.4091C= (p.Ala1364=)
c.3959C= (p.Ala1320=)
c.3827C= (p.Ala1276=)
20g.32436692C>GCA408564187ASXL1c.3980C>G (p.Ala1327Gly)
c.3797C>G (p.Ala1266Gly)
n.6333C>G
c.1870-1738C>G (n.1870-1738C>G)
c.3965C>G (p.Ala1322Gly)
c.3977C>G (p.Ala1326Gly)
c.3950C>G (p.Ala1317Gly)
c.3896C>G (p.Ala1299Gly)
c.3296C>G (p.Ala1099Gly)
c.4244C>G (p.Ala1415Gly)
c.4241C>G (p.Ala1414Gly)
c.4160C>G (p.Ala1387Gly)
c.4091C>G (p.Ala1364Gly)
c.3959C>G (p.Ala1320Gly)
c.3827C>G (p.Ala1276Gly)
20g.32436692C>TCA408564189ASXL1c.3980C>T (p.Ala1327Val)
c.3797C>T (p.Ala1266Val)
n.6333C>T
c.1870-1738C>T (n.1870-1738C>T)
c.3965C>T (p.Ala1322Val)
c.3977C>T (p.Ala1326Val)
c.3950C>T (p.Ala1317Val)
c.3896C>T (p.Ala1299Val)
c.3296C>T (p.Ala1099Val)
c.4244C>T (p.Ala1415Val)
c.4241C>T (p.Ala1414Val)
c.4160C>T (p.Ala1387Val)
c.4091C>T (p.Ala1364Val)
c.3959C>T (p.Ala1320Val)
c.3827C>T (p.Ala1276Val)
 dbSNP gnomAD v3 gnomAD v4
20g.32436693T>ACA510467543ASXL1c.3981T>A (p.Ala1327=)
c.3798T>A (p.Ala1266=)
n.6334T>A
c.1870-1737T>A (n.1870-1737T>A)
c.3966T>A (p.Ala1322=)
c.3978T>A (p.Ala1326=)
c.3951T>A (p.Ala1317=)
c.3897T>A (p.Ala1299=)
c.3297T>A (p.Ala1099=)
c.4245T>A (p.Ala1415=)
c.4242T>A (p.Ala1414=)
c.4161T>A (p.Ala1387=)
c.4092T>A (p.Ala1364=)
c.3960T>A (p.Ala1320=)
c.3828T>A (p.Ala1276=)
20g.32436693T>CCA510467544ASXL1c.3981T>C (p.Ala1327=)
c.3798T>C (p.Ala1266=)
n.6334T>C
c.1870-1737T>C (n.1870-1737T>C)
c.3966T>C (p.Ala1322=)
c.3978T>C (p.Ala1326=)
c.3951T>C (p.Ala1317=)
c.3897T>C (p.Ala1299=)
c.3297T>C (p.Ala1099=)
c.4245T>C (p.Ala1415=)
c.4242T>C (p.Ala1414=)
c.4161T>C (p.Ala1387=)
c.4092T>C (p.Ala1364=)
c.3960T>C (p.Ala1320=)
c.3828T>C (p.Ala1276=)
 gnomAD v4
20g.32436693T>GCA9808940ASXL1c.3981T>G (p.Ala1327=)
c.3798T>G (p.Ala1266=)
n.6334T>G
c.1870-1737T>G (n.1870-1737T>G)
c.3966T>G (p.Ala1322=)
c.3978T>G (p.Ala1326=)
c.3951T>G (p.Ala1317=)
c.3897T>G (p.Ala1299=)
c.3297T>G (p.Ala1099=)
c.4245T>G (p.Ala1415=)
c.4242T>G (p.Ala1414=)
c.4161T>G (p.Ala1387=)
c.4092T>G (p.Ala1364=)
c.3960T>G (p.Ala1320=)
c.3828T>G (p.Ala1276=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436693T=CA2360293821ASXL1c.3981T= (p.Ala1327=)
c.3798T= (p.Ala1266=)
n.6334T=
c.1870-1737T= (n.1870-1737T=)
c.3966T= (p.Ala1322=)
c.3978T= (p.Ala1326=)
c.3951T= (p.Ala1317=)
c.3897T= (p.Ala1299=)
c.3297T= (p.Ala1099=)
c.4245T= (p.Ala1415=)
c.4242T= (p.Ala1414=)
c.4161T= (p.Ala1387=)
c.4092T= (p.Ala1364=)
c.3960T= (p.Ala1320=)
c.3828T= (p.Ala1276=)
20g.32436694G>ACA408564190ASXL1c.3982G>A (p.Glu1328Lys)
c.3799G>A (p.Glu1267Lys)
n.6335G>A
c.1870-1736G>A (n.1870-1736G>A)
c.3967G>A (p.Glu1323Lys)
c.3979G>A (p.Glu1327Lys)
c.3952G>A (p.Glu1318Lys)
c.3898G>A (p.Glu1300Lys)
c.3298G>A (p.Glu1100Lys)
c.4246G>A (p.Glu1416Lys)
c.4243G>A (p.Glu1415Lys)
c.4162G>A (p.Glu1388Lys)
c.4093G>A (p.Glu1365Lys)
c.3961G>A (p.Glu1321Lys)
c.3829G>A (p.Glu1277Lys)
20g.32436694G>CCA408564191ASXL1c.3982G>C (p.Glu1328Gln)
c.3799G>C (p.Glu1267Gln)
n.6335G>C
c.1870-1736G>C (n.1870-1736G>C)
c.3967G>C (p.Glu1323Gln)
c.3979G>C (p.Glu1327Gln)
c.3952G>C (p.Glu1318Gln)
c.3898G>C (p.Glu1300Gln)
c.3298G>C (p.Glu1100Gln)
c.4246G>C (p.Glu1416Gln)
c.4243G>C (p.Glu1415Gln)
c.4162G>C (p.Glu1388Gln)
c.4093G>C (p.Glu1365Gln)
c.3961G>C (p.Glu1321Gln)
c.3829G>C (p.Glu1277Gln)
20g.32436694G>TCA408564192ASXL1c.3982G>T (p.Glu1328Ter)
c.3799G>T (p.Glu1267Ter)
n.6335G>T
c.1870-1736G>T (n.1870-1736G>T)
c.3967G>T (p.Glu1323Ter)
c.3979G>T (p.Glu1327Ter)
c.3952G>T (p.Glu1318Ter)
c.3898G>T (p.Glu1300Ter)
c.3298G>T (p.Glu1100Ter)
c.4246G>T (p.Glu1416Ter)
c.4243G>T (p.Glu1415Ter)
c.4162G>T (p.Glu1388Ter)
c.4093G>T (p.Glu1365Ter)
c.3961G>T (p.Glu1321Ter)
c.3829G>T (p.Glu1277Ter)
20g.32436695A>CCA408564193ASXL1c.3983A>C (p.Glu1328Ala)
c.3800A>C (p.Glu1267Ala)
n.6336A>C
c.1870-1735A>C (n.1870-1735A>C)
c.3968A>C (p.Glu1323Ala)
c.3980A>C (p.Glu1327Ala)
c.3953A>C (p.Glu1318Ala)
c.3899A>C (p.Glu1300Ala)
c.3299A>C (p.Glu1100Ala)
c.4247A>C (p.Glu1416Ala)
c.4244A>C (p.Glu1415Ala)
c.4163A>C (p.Glu1388Ala)
c.4094A>C (p.Glu1365Ala)
c.3962A>C (p.Glu1321Ala)
c.3830A>C (p.Glu1277Ala)
20g.32436695A>GCA408564194ASXL1c.3983A>G (p.Glu1328Gly)
c.3800A>G (p.Glu1267Gly)
n.6336A>G
c.1870-1735A>G (n.1870-1735A>G)
c.3968A>G (p.Glu1323Gly)
c.3980A>G (p.Glu1327Gly)
c.3953A>G (p.Glu1318Gly)
c.3899A>G (p.Glu1300Gly)
c.3299A>G (p.Glu1100Gly)
c.4247A>G (p.Glu1416Gly)
c.4244A>G (p.Glu1415Gly)
c.4163A>G (p.Glu1388Gly)
c.4094A>G (p.Glu1365Gly)
c.3962A>G (p.Glu1321Gly)
c.3830A>G (p.Glu1277Gly)
 dbSNP
20g.32436695A>TCA408564195ASXL1c.3983A>T (p.Glu1328Val)
c.3800A>T (p.Glu1267Val)
n.6336A>T
c.1870-1735A>T (n.1870-1735A>T)
c.3968A>T (p.Glu1323Val)
c.3980A>T (p.Glu1327Val)
c.3953A>T (p.Glu1318Val)
c.3899A>T (p.Glu1300Val)
c.3299A>T (p.Glu1100Val)
c.4247A>T (p.Glu1416Val)
c.4244A>T (p.Glu1415Val)
c.4163A>T (p.Glu1388Val)
c.4094A>T (p.Glu1365Val)
c.3962A>T (p.Glu1321Val)
c.3830A>T (p.Glu1277Val)
 dbSNP
20g.32436696G>ACA510467548ASXL1c.3984G>A (p.Glu1328=)
c.3801G>A (p.Glu1267=)
n.6337G>A
c.1870-1734G>A (n.1870-1734G>A)
c.3969G>A (p.Glu1323=)
c.3981G>A (p.Glu1327=)
c.3954G>A (p.Glu1318=)
c.3900G>A (p.Glu1300=)
c.3300G>A (p.Glu1100=)
c.4248G>A (p.Glu1416=)
c.4245G>A (p.Glu1415=)
c.4164G>A (p.Glu1388=)
c.4095G>A (p.Glu1365=)
c.3963G>A (p.Glu1321=)
c.3831G>A (p.Glu1277=)
 gnomAD v2
20g.32436696G>CCA408564196ASXL1c.3984G>C (p.Glu1328Asp)
c.3801G>C (p.Glu1267Asp)
n.6337G>C
c.1870-1734G>C (n.1870-1734G>C)
c.3969G>C (p.Glu1323Asp)
c.3981G>C (p.Glu1327Asp)
c.3954G>C (p.Glu1318Asp)
c.3900G>C (p.Glu1300Asp)
c.3300G>C (p.Glu1100Asp)
c.4248G>C (p.Glu1416Asp)
c.4245G>C (p.Glu1415Asp)
c.4164G>C (p.Glu1388Asp)
c.4095G>C (p.Glu1365Asp)
c.3963G>C (p.Glu1321Asp)
c.3831G>C (p.Glu1277Asp)
20g.32436696G>TCA408564197ASXL1c.3984G>T (p.Glu1328Asp)
c.3801G>T (p.Glu1267Asp)
n.6337G>T
c.1870-1734G>T (n.1870-1734G>T)
c.3969G>T (p.Glu1323Asp)
c.3981G>T (p.Glu1327Asp)
c.3954G>T (p.Glu1318Asp)
c.3900G>T (p.Glu1300Asp)
c.3300G>T (p.Glu1100Asp)
c.4248G>T (p.Glu1416Asp)
c.4245G>T (p.Glu1415Asp)
c.4164G>T (p.Glu1388Asp)
c.4095G>T (p.Glu1365Asp)
c.3963G>T (p.Glu1321Asp)
c.3831G>T (p.Glu1277Asp)
20g.32436696_32436697delinsGACA2360293822ASXL1c.3984_3985delinsGA (p.Glu1328=)
c.3801_3802delinsGA (p.Glu1267=)
n.6337_6338delinsGA
c.1870-1734_1870-1733delinsGA (n.1870-1734_1870-1733delinsGA)
c.3969_3970delinsGA (p.Glu1323=)
c.3981_3982delinsGA (p.Glu1327=)
c.3954_3955delinsGA (p.Glu1318=)
c.3900_3901delinsGA (p.Glu1300=)
c.3300_3301delinsGA (p.Glu1100=)
c.4248_4249delinsGA (p.Glu1416=)
c.4245_4246delinsGA (p.Glu1415=)
c.4164_4165delinsGA (p.Glu1388=)
c.4095_4096delinsGA (p.Glu1365=)
c.3963_3964delinsGA (p.Glu1321=)
c.3831_3832delinsGA (p.Glu1277=)
20g.32436697delCA9808941ASXL1c.3985del (p.Ile1329SerfsTer?)
c.3802del (p.Ile1268SerfsTer?)
n.6338del
c.1870-1733del (n.1870-1733del)
c.3970del (p.Ile1324SerfsTer?)
c.3982del (p.Ile1328SerfsTer?)
c.3955del (p.Ile1319SerfsTer?)
c.3901del (p.Ile1301SerfsTer?)
c.3301del (p.Ile1101SerfsTer?)
c.4249del (p.Ile1417SerfsTer?)
c.4246del (p.Ile1416SerfsTer?)
c.4165del (p.Ile1389SerfsTer?)
c.4096del (p.Ile1366SerfsTer?)
c.3964del (p.Ile1322SerfsTer?)
c.3832del (p.Ile1278SerfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436697A=CA2360293823ASXL1c.3985A= (p.Ile1329=)
c.3802A= (p.Ile1268=)
n.6338A=
c.1870-1733A= (n.1870-1733A=)
c.3970A= (p.Ile1324=)
c.3982A= (p.Ile1328=)
c.3955A= (p.Ile1319=)
c.3901A= (p.Ile1301=)
c.3301A= (p.Ile1101=)
c.4249A= (p.Ile1417=)
c.4246A= (p.Ile1416=)
c.4165A= (p.Ile1389=)
c.4096A= (p.Ile1366=)
c.3964A= (p.Ile1322=)
c.3832A= (p.Ile1278=)
20g.32436697A>CCA408564198ASXL1c.3985A>C (p.Ile1329Leu)
c.3802A>C (p.Ile1268Leu)
n.6338A>C
c.1870-1733A>C (n.1870-1733A>C)
c.3970A>C (p.Ile1324Leu)
c.3982A>C (p.Ile1328Leu)
c.3955A>C (p.Ile1319Leu)
c.3901A>C (p.Ile1301Leu)
c.3301A>C (p.Ile1101Leu)
c.4249A>C (p.Ile1417Leu)
c.4246A>C (p.Ile1416Leu)
c.4165A>C (p.Ile1389Leu)
c.4096A>C (p.Ile1366Leu)
c.3964A>C (p.Ile1322Leu)
c.3832A>C (p.Ile1278Leu)
20g.32436697A>GCA408564199ASXL1c.3985A>G (p.Ile1329Val)
c.3802A>G (p.Ile1268Val)
n.6338A>G
c.1870-1733A>G (n.1870-1733A>G)
c.3970A>G (p.Ile1324Val)
c.3982A>G (p.Ile1328Val)
c.3955A>G (p.Ile1319Val)
c.3901A>G (p.Ile1301Val)
c.3301A>G (p.Ile1101Val)
c.4249A>G (p.Ile1417Val)
c.4246A>G (p.Ile1416Val)
c.4165A>G (p.Ile1389Val)
c.4096A>G (p.Ile1366Val)
c.3964A>G (p.Ile1322Val)
c.3832A>G (p.Ile1278Val)
20g.32436697A>TCA408564200ASXL1c.3985A>T (p.Ile1329Phe)
c.3802A>T (p.Ile1268Phe)
n.6338A>T
c.1870-1733A>T (n.1870-1733A>T)
c.3970A>T (p.Ile1324Phe)
c.3982A>T (p.Ile1328Phe)
c.3955A>T (p.Ile1319Phe)
c.3901A>T (p.Ile1301Phe)
c.3301A>T (p.Ile1101Phe)
c.4249A>T (p.Ile1417Phe)
c.4246A>T (p.Ile1416Phe)
c.4165A>T (p.Ile1389Phe)
c.4096A>T (p.Ile1366Phe)
c.3964A>T (p.Ile1322Phe)
c.3832A>T (p.Ile1278Phe)
 dbSNP gnomAD v2 gnomAD v4
20g.32436698T>ACA408564201ASXL1c.3986T>A (p.Ile1329Asn)
c.3803T>A (p.Ile1268Asn)
n.6339T>A
c.1870-1732T>A (n.1870-1732T>A)
c.3971T>A (p.Ile1324Asn)
c.3983T>A (p.Ile1328Asn)
c.3956T>A (p.Ile1319Asn)
c.3902T>A (p.Ile1301Asn)
c.3302T>A (p.Ile1101Asn)
c.4250T>A (p.Ile1417Asn)
c.4247T>A (p.Ile1416Asn)
c.4166T>A (p.Ile1389Asn)
c.4097T>A (p.Ile1366Asn)
c.3965T>A (p.Ile1322Asn)
c.3833T>A (p.Ile1278Asn)
20g.32436698T>CCA408564202ASXL1c.3986T>C (p.Ile1329Thr)
c.3803T>C (p.Ile1268Thr)
n.6339T>C
c.1870-1732T>C (n.1870-1732T>C)
c.3971T>C (p.Ile1324Thr)
c.3983T>C (p.Ile1328Thr)
c.3956T>C (p.Ile1319Thr)
c.3902T>C (p.Ile1301Thr)
c.3302T>C (p.Ile1101Thr)
c.4250T>C (p.Ile1417Thr)
c.4247T>C (p.Ile1416Thr)
c.4166T>C (p.Ile1389Thr)
c.4097T>C (p.Ile1366Thr)
c.3965T>C (p.Ile1322Thr)
c.3833T>C (p.Ile1278Thr)
20g.32436698T>GCA408564203ASXL1c.3986T>G (p.Ile1329Ser)
c.3803T>G (p.Ile1268Ser)
n.6339T>G
c.1870-1732T>G (n.1870-1732T>G)
c.3971T>G (p.Ile1324Ser)
c.3983T>G (p.Ile1328Ser)
c.3956T>G (p.Ile1319Ser)
c.3902T>G (p.Ile1301Ser)
c.3302T>G (p.Ile1101Ser)
c.4250T>G (p.Ile1417Ser)
c.4247T>G (p.Ile1416Ser)
c.4166T>G (p.Ile1389Ser)
c.4097T>G (p.Ile1366Ser)
c.3965T>G (p.Ile1322Ser)
c.3833T>G (p.Ile1278Ser)

Number of alleles fetched