Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.25742181C>ACA346073774ASXL2c.4153G>T (p.Ala1385Ser)
c.4156G>T (p.Ala1386Ser)
c.4072G>T (p.Ala1358Ser)
c.2605G>T (p.Ala869Ser)
c.3790G>T (p.Ala1264Ser)
c.3376G>T (p.Ala1126Ser)
c.3982G>T (p.Ala1328Ser)
c.4336G>T (p.Ala1446Ser)
2g.25742181C>GCA346073772ASXL2c.4153G>C (p.Ala1385Pro)
c.4156G>C (p.Ala1386Pro)
c.4072G>C (p.Ala1358Pro)
c.2605G>C (p.Ala869Pro)
c.3790G>C (p.Ala1264Pro)
c.3376G>C (p.Ala1126Pro)
c.3982G>C (p.Ala1328Pro)
c.4336G>C (p.Ala1446Pro)
2g.25742181C>TCA346073773ASXL2c.4153G>A (p.Ala1385Thr)
c.4156G>A (p.Ala1386Thr)
c.4072G>A (p.Ala1358Thr)
c.2605G>A (p.Ala869Thr)
c.3790G>A (p.Ala1264Thr)
c.3376G>A (p.Ala1126Thr)
c.3982G>A (p.Ala1328Thr)
c.4336G>A (p.Ala1446Thr)
gnomAD v4
2g.25742182C>ACA346073775ASXL2c.4152G>T (p.Gln1384His)
c.4155G>T (p.Gln1385His)
c.4071G>T (p.Gln1357His)
c.2604G>T (p.Gln868His)
c.3789G>T (p.Gln1263His)
c.3375G>T (p.Gln1125His)
c.3981G>T (p.Gln1327His)
c.4335G>T (p.Gln1445His)
2g.25742182C=CA1239490356ASXL2c.4152G= (p.Gln1384=)
c.4155G= (p.Gln1385=)
c.4071G= (p.Gln1357=)
c.2604G= (p.Gln868=)
c.3789G= (p.Gln1263=)
c.3375G= (p.Gln1125=)
c.3981G= (p.Gln1327=)
c.4335G= (p.Gln1445=)
2g.25742182C>GCA346073776ASXL2c.4152G>C (p.Gln1384His)
c.4155G>C (p.Gln1385His)
c.4071G>C (p.Gln1357His)
c.2604G>C (p.Gln868His)
c.3789G>C (p.Gln1263His)
c.3375G>C (p.Gln1125His)
c.3981G>C (p.Gln1327His)
c.4335G>C (p.Gln1445His)
2g.25742182C>TCA425181371ASXL2c.4152G>A (p.Gln1384=)
c.4155G>A (p.Gln1385=)
c.4071G>A (p.Gln1357=)
c.2604G>A (p.Gln868=)
c.3789G>A (p.Gln1263=)
c.3375G>A (p.Gln1125=)
c.3981G>A (p.Gln1327=)
c.4335G>A (p.Gln1445=)
dbSNP gnomAD v4
2g.25742183T>ACA346073777ASXL2c.4151A>T (p.Gln1384Leu)
c.4154A>T (p.Gln1385Leu)
c.4070A>T (p.Gln1357Leu)
c.2603A>T (p.Gln868Leu)
c.3788A>T (p.Gln1263Leu)
c.3374A>T (p.Gln1125Leu)
c.3980A>T (p.Gln1327Leu)
c.4334A>T (p.Gln1445Leu)
2g.25742183T>CCA346073778ASXL2c.4151A>G (p.Gln1384Arg)
c.4154A>G (p.Gln1385Arg)
c.4070A>G (p.Gln1357Arg)
c.2603A>G (p.Gln868Arg)
c.3788A>G (p.Gln1263Arg)
c.3374A>G (p.Gln1125Arg)
c.3980A>G (p.Gln1327Arg)
c.4334A>G (p.Gln1445Arg)
gnomAD v4
2g.25742183T>GCA346073779ASXL2c.4151A>C (p.Gln1384Pro)
c.4154A>C (p.Gln1385Pro)
c.4070A>C (p.Gln1357Pro)
c.2603A>C (p.Gln868Pro)
c.3788A>C (p.Gln1263Pro)
c.3374A>C (p.Gln1125Pro)
c.3980A>C (p.Gln1327Pro)
c.4334A>C (p.Gln1445Pro)
2g.25742184G>ACA346073780ASXL2c.4150C>T (p.Gln1384Ter)
c.4153C>T (p.Gln1385Ter)
c.4069C>T (p.Gln1357Ter)
c.2602C>T (p.Gln868Ter)
c.3787C>T (p.Gln1263Ter)
c.3373C>T (p.Gln1125Ter)
c.3979C>T (p.Gln1327Ter)
c.4333C>T (p.Gln1445Ter)
2g.25742184G>CCA1557353ASXL2c.4150C>G (p.Gln1384Glu)
c.4153C>G (p.Gln1385Glu)
c.4069C>G (p.Gln1357Glu)
c.2602C>G (p.Gln868Glu)
c.3787C>G (p.Gln1263Glu)
c.3373C>G (p.Gln1125Glu)
c.3979C>G (p.Gln1327Glu)
c.4333C>G (p.Gln1445Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742184G=CA1239490357ASXL2c.4150C= (p.Gln1384=)
c.4153C= (p.Gln1385=)
c.4069C= (p.Gln1357=)
c.2602C= (p.Gln868=)
c.3787C= (p.Gln1263=)
c.3373C= (p.Gln1125=)
c.3979C= (p.Gln1327=)
c.4333C= (p.Gln1445=)
2g.25742184G>TCA346073781ASXL2c.4150C>A (p.Gln1384Lys)
c.4153C>A (p.Gln1385Lys)
c.4069C>A (p.Gln1357Lys)
c.2602C>A (p.Gln868Lys)
c.3787C>A (p.Gln1263Lys)
c.3373C>A (p.Gln1125Lys)
c.3979C>A (p.Gln1327Lys)
c.4333C>A (p.Gln1445Lys)
2g.25742185A>CCA425181372ASXL2c.4149T>G (p.Val1383=)
c.4152T>G (p.Val1384=)
c.4068T>G (p.Val1356=)
c.2601T>G (p.Val867=)
c.3786T>G (p.Val1262=)
c.3372T>G (p.Val1124=)
c.3978T>G (p.Val1326=)
c.4332T>G (p.Val1444=)
2g.25742185A>GCA425181374ASXL2c.4149T>C (p.Val1383=)
c.4152T>C (p.Val1384=)
c.4068T>C (p.Val1356=)
c.2601T>C (p.Val867=)
c.3786T>C (p.Val1262=)
c.3372T>C (p.Val1124=)
c.3978T>C (p.Val1326=)
c.4332T>C (p.Val1444=)
2g.25742185A>TCA425181373ASXL2c.4149T>A (p.Val1383=)
c.4152T>A (p.Val1384=)
c.4068T>A (p.Val1356=)
c.2601T>A (p.Val867=)
c.3786T>A (p.Val1262=)
c.3372T>A (p.Val1124=)
c.3978T>A (p.Val1326=)
c.4332T>A (p.Val1444=)
2g.25742186A>CCA346073782ASXL2c.4148T>G (p.Val1383Gly)
c.4151T>G (p.Val1384Gly)
c.4067T>G (p.Val1356Gly)
c.2600T>G (p.Val867Gly)
c.3785T>G (p.Val1262Gly)
c.3371T>G (p.Val1124Gly)
c.3977T>G (p.Val1326Gly)
c.4331T>G (p.Val1444Gly)
2g.25742186A>GCA346073784ASXL2c.4148T>C (p.Val1383Ala)
c.4151T>C (p.Val1384Ala)
c.4067T>C (p.Val1356Ala)
c.2600T>C (p.Val867Ala)
c.3785T>C (p.Val1262Ala)
c.3371T>C (p.Val1124Ala)
c.3977T>C (p.Val1326Ala)
c.4331T>C (p.Val1444Ala)
2g.25742186A>TCA346073783ASXL2c.4148T>A (p.Val1383Asp)
c.4151T>A (p.Val1384Asp)
c.4067T>A (p.Val1356Asp)
c.2600T>A (p.Val867Asp)
c.3785T>A (p.Val1262Asp)
c.3371T>A (p.Val1124Asp)
c.3977T>A (p.Val1326Asp)
c.4331T>A (p.Val1444Asp)
2g.25742187C>ACA43734180ASXL2c.4147G>T (p.Val1383Phe)
c.4150G>T (p.Val1384Phe)
c.4066G>T (p.Val1356Phe)
c.2599G>T (p.Val867Phe)
c.3784G>T (p.Val1262Phe)
c.3370G>T (p.Val1124Phe)
c.3976G>T (p.Val1326Phe)
c.4330G>T (p.Val1444Phe)
dbSNP gnomAD v4
2g.25742187C=CA1239490358ASXL2c.4147G= (p.Val1383=)
c.4150G= (p.Val1384=)
c.4066G= (p.Val1356=)
c.2599G= (p.Val867=)
c.3784G= (p.Val1262=)
c.3370G= (p.Val1124=)
c.3976G= (p.Val1326=)
c.4330G= (p.Val1444=)
2g.25742187C>GCA346073785ASXL2c.4147G>C (p.Val1383Leu)
c.4150G>C (p.Val1384Leu)
c.4066G>C (p.Val1356Leu)
c.2599G>C (p.Val867Leu)
c.3784G>C (p.Val1262Leu)
c.3370G>C (p.Val1124Leu)
c.3976G>C (p.Val1326Leu)
c.4330G>C (p.Val1444Leu)
2g.25742187C>TCA346073786ASXL2c.4147G>A (p.Val1383Ile)
c.4150G>A (p.Val1384Ile)
c.4066G>A (p.Val1356Ile)
c.2599G>A (p.Val867Ile)
c.3784G>A (p.Val1262Ile)
c.3370G>A (p.Val1124Ile)
c.3976G>A (p.Val1326Ile)
c.4330G>A (p.Val1444Ile)
dbSNP gnomAD v2 gnomAD v4
2g.25742188A>CCA425181375ASXL2c.4146T>G (p.Pro1382=)
c.4149T>G (p.Pro1383=)
c.4065T>G (p.Pro1355=)
c.2598T>G (p.Pro866=)
c.3783T>G (p.Pro1261=)
c.3369T>G (p.Pro1123=)
c.3975T>G (p.Pro1325=)
c.4329T>G (p.Pro1443=)
2g.25742188A>GCA425181376ASXL2c.4146T>C (p.Pro1382=)
c.4149T>C (p.Pro1383=)
c.4065T>C (p.Pro1355=)
c.2598T>C (p.Pro866=)
c.3783T>C (p.Pro1261=)
c.3369T>C (p.Pro1123=)
c.3975T>C (p.Pro1325=)
c.4329T>C (p.Pro1443=)
gnomAD v4
2g.25742188A>TCA425181377ASXL2c.4146T>A (p.Pro1382=)
c.4149T>A (p.Pro1383=)
c.4065T>A (p.Pro1355=)
c.2598T>A (p.Pro866=)
c.3783T>A (p.Pro1261=)
c.3369T>A (p.Pro1123=)
c.3975T>A (p.Pro1325=)
c.4329T>A (p.Pro1443=)
2g.25742189G>ACA346073787ASXL2c.4145C>T (p.Pro1382Leu)
c.4148C>T (p.Pro1383Leu)
c.4064C>T (p.Pro1355Leu)
c.2597C>T (p.Pro866Leu)
c.3782C>T (p.Pro1261Leu)
c.3368C>T (p.Pro1123Leu)
c.3974C>T (p.Pro1325Leu)
c.4328C>T (p.Pro1443Leu)
gnomAD v4
2g.25742189G>CCA346073788ASXL2c.4145C>G (p.Pro1382Arg)
c.4148C>G (p.Pro1383Arg)
c.4064C>G (p.Pro1355Arg)
c.2597C>G (p.Pro866Arg)
c.3782C>G (p.Pro1261Arg)
c.3368C>G (p.Pro1123Arg)
c.3974C>G (p.Pro1325Arg)
c.4328C>G (p.Pro1443Arg)
2g.25742189G>TCA346073789ASXL2c.4145C>A (p.Pro1382His)
c.4148C>A (p.Pro1383His)
c.4064C>A (p.Pro1355His)
c.2597C>A (p.Pro866His)
c.3782C>A (p.Pro1261His)
c.3368C>A (p.Pro1123His)
c.3974C>A (p.Pro1325His)
c.4328C>A (p.Pro1443His)
2g.25742190G>ACA346073790ASXL2c.4144C>T (p.Pro1382Ser)
c.4147C>T (p.Pro1383Ser)
c.4063C>T (p.Pro1355Ser)
c.2596C>T (p.Pro866Ser)
c.3781C>T (p.Pro1261Ser)
c.3367C>T (p.Pro1123Ser)
c.3973C>T (p.Pro1325Ser)
c.4327C>T (p.Pro1443Ser)
gnomAD v4 COSMIC COSMIC
2g.25742190G>CCA346073791ASXL2c.4144C>G (p.Pro1382Ala)
c.4147C>G (p.Pro1383Ala)
c.4063C>G (p.Pro1355Ala)
c.2596C>G (p.Pro866Ala)
c.3781C>G (p.Pro1261Ala)
c.3367C>G (p.Pro1123Ala)
c.3973C>G (p.Pro1325Ala)
c.4327C>G (p.Pro1443Ala)
2g.25742190G>TCA346073792ASXL2c.4144C>A (p.Pro1382Thr)
c.4147C>A (p.Pro1383Thr)
c.4063C>A (p.Pro1355Thr)
c.2596C>A (p.Pro866Thr)
c.3781C>A (p.Pro1261Thr)
c.3367C>A (p.Pro1123Thr)
c.3973C>A (p.Pro1325Thr)
c.4327C>A (p.Pro1443Thr)
2g.25742191A>CCA346073793ASXL2c.4143T>G (p.Ile1381Met)
c.4146T>G (p.Ile1382Met)
c.4062T>G (p.Ile1354Met)
c.2595T>G (p.Ile865Met)
c.3780T>G (p.Ile1260Met)
c.3366T>G (p.Ile1122Met)
c.3972T>G (p.Ile1324Met)
c.4326T>G (p.Ile1442Met)
2g.25742191A>GCA425181378ASXL2c.4143T>C (p.Ile1381=)
c.4146T>C (p.Ile1382=)
c.4062T>C (p.Ile1354=)
c.2595T>C (p.Ile865=)
c.3780T>C (p.Ile1260=)
c.3366T>C (p.Ile1122=)
c.3972T>C (p.Ile1324=)
c.4326T>C (p.Ile1442=)
2g.25742191A>TCA425181379ASXL2c.4143T>A (p.Ile1381=)
c.4146T>A (p.Ile1382=)
c.4062T>A (p.Ile1354=)
c.2595T>A (p.Ile865=)
c.3780T>A (p.Ile1260=)
c.3366T>A (p.Ile1122=)
c.3972T>A (p.Ile1324=)
c.4326T>A (p.Ile1442=)
2g.25742192A>CCA346073794ASXL2c.4142T>G (p.Ile1381Ser)
c.4145T>G (p.Ile1382Ser)
c.4061T>G (p.Ile1354Ser)
c.2594T>G (p.Ile865Ser)
c.3779T>G (p.Ile1260Ser)
c.3365T>G (p.Ile1122Ser)
c.3971T>G (p.Ile1324Ser)
c.4325T>G (p.Ile1442Ser)
gnomAD v4
2g.25742192A>GCA346073795ASXL2c.4142T>C (p.Ile1381Thr)
c.4145T>C (p.Ile1382Thr)
c.4061T>C (p.Ile1354Thr)
c.2594T>C (p.Ile865Thr)
c.3779T>C (p.Ile1260Thr)
c.3365T>C (p.Ile1122Thr)
c.3971T>C (p.Ile1324Thr)
c.4325T>C (p.Ile1442Thr)
2g.25742192A>TCA346073796ASXL2c.4142T>A (p.Ile1381Asn)
c.4145T>A (p.Ile1382Asn)
c.4061T>A (p.Ile1354Asn)
c.2594T>A (p.Ile865Asn)
c.3779T>A (p.Ile1260Asn)
c.3365T>A (p.Ile1122Asn)
c.3971T>A (p.Ile1324Asn)
c.4325T>A (p.Ile1442Asn)
2g.25742193T>ACA346073797ASXL2c.4141A>T (p.Ile1381Phe)
c.4144A>T (p.Ile1382Phe)
c.4060A>T (p.Ile1354Phe)
c.2593A>T (p.Ile865Phe)
c.3778A>T (p.Ile1260Phe)
c.3364A>T (p.Ile1122Phe)
c.3970A>T (p.Ile1324Phe)
c.4324A>T (p.Ile1442Phe)
2g.25742193T>CCA346073799ASXL2c.4141A>G (p.Ile1381Val)
c.4144A>G (p.Ile1382Val)
c.4060A>G (p.Ile1354Val)
c.2593A>G (p.Ile865Val)
c.3778A>G (p.Ile1260Val)
c.3364A>G (p.Ile1122Val)
c.3970A>G (p.Ile1324Val)
c.4324A>G (p.Ile1442Val)
gnomAD v4
2g.25742193T>GCA346073798ASXL2c.4141A>C (p.Ile1381Leu)
c.4144A>C (p.Ile1382Leu)
c.4060A>C (p.Ile1354Leu)
c.2593A>C (p.Ile865Leu)
c.3778A>C (p.Ile1260Leu)
c.3364A>C (p.Ile1122Leu)
c.3970A>C (p.Ile1324Leu)
c.4324A>C (p.Ile1442Leu)
2g.25742194G>ACA425181380ASXL2c.4140C>T (p.Thr1380=)
c.4143C>T (p.Thr1381=)
c.4059C>T (p.Thr1353=)
c.2592C>T (p.Thr864=)
c.3777C>T (p.Thr1259=)
c.3363C>T (p.Thr1121=)
c.3969C>T (p.Thr1323=)
c.4323C>T (p.Thr1441=)
dbSNP gnomAD v3 gnomAD v4
2g.25742194G>CCA425181381ASXL2c.4140C>G (p.Thr1380=)
c.4143C>G (p.Thr1381=)
c.4059C>G (p.Thr1353=)
c.2592C>G (p.Thr864=)
c.3777C>G (p.Thr1259=)
c.3363C>G (p.Thr1121=)
c.3969C>G (p.Thr1323=)
c.4323C>G (p.Thr1441=)
2g.25742194G=CA1239490359ASXL2c.4140C= (p.Thr1380=)
c.4143C= (p.Thr1381=)
c.4059C= (p.Thr1353=)
c.2592C= (p.Thr864=)
c.3777C= (p.Thr1259=)
c.3363C= (p.Thr1121=)
c.3969C= (p.Thr1323=)
c.4323C= (p.Thr1441=)
2g.25742194G>TCA425181382ASXL2c.4140C>A (p.Thr1380=)
c.4143C>A (p.Thr1381=)
c.4059C>A (p.Thr1353=)
c.2592C>A (p.Thr864=)
c.3777C>A (p.Thr1259=)
c.3363C>A (p.Thr1121=)
c.3969C>A (p.Thr1323=)
c.4323C>A (p.Thr1441=)
dbSNP gnomAD v2 gnomAD v4
2g.25742195G>ACA346073800ASXL2c.4139C>T (p.Thr1380Ile)
c.4142C>T (p.Thr1381Ile)
c.4058C>T (p.Thr1353Ile)
c.2591C>T (p.Thr864Ile)
c.3776C>T (p.Thr1259Ile)
c.3362C>T (p.Thr1121Ile)
c.3968C>T (p.Thr1323Ile)
c.4322C>T (p.Thr1441Ile)
gnomAD v4
2g.25742195G>CCA346073801ASXL2c.4139C>G (p.Thr1380Ser)
c.4142C>G (p.Thr1381Ser)
c.4058C>G (p.Thr1353Ser)
c.2591C>G (p.Thr864Ser)
c.3776C>G (p.Thr1259Ser)
c.3362C>G (p.Thr1121Ser)
c.3968C>G (p.Thr1323Ser)
c.4322C>G (p.Thr1441Ser)
2g.25742195G>TCA346073802ASXL2c.4139C>A (p.Thr1380Asn)
c.4142C>A (p.Thr1381Asn)
c.4058C>A (p.Thr1353Asn)
c.2591C>A (p.Thr864Asn)
c.3776C>A (p.Thr1259Asn)
c.3362C>A (p.Thr1121Asn)
c.3968C>A (p.Thr1323Asn)
c.4322C>A (p.Thr1441Asn)
2g.25742196T>ACA346073803ASXL2c.4138A>T (p.Thr1380Ser)
c.4141A>T (p.Thr1381Ser)
c.4057A>T (p.Thr1353Ser)
c.2590A>T (p.Thr864Ser)
c.3775A>T (p.Thr1259Ser)
c.3361A>T (p.Thr1121Ser)
c.3967A>T (p.Thr1323Ser)
c.4321A>T (p.Thr1441Ser)
gnomAD v4
2g.25742196T>CCA346073804ASXL2c.4138A>G (p.Thr1380Ala)
c.4141A>G (p.Thr1381Ala)
c.4057A>G (p.Thr1353Ala)
c.2590A>G (p.Thr864Ala)
c.3775A>G (p.Thr1259Ala)
c.3361A>G (p.Thr1121Ala)
c.3967A>G (p.Thr1323Ala)
c.4321A>G (p.Thr1441Ala)
2g.25742196T>GCA346073805ASXL2c.4138A>C (p.Thr1380Pro)
c.4141A>C (p.Thr1381Pro)
c.4057A>C (p.Thr1353Pro)
c.2590A>C (p.Thr864Pro)
c.3775A>C (p.Thr1259Pro)
c.3361A>C (p.Thr1121Pro)
c.3967A>C (p.Thr1323Pro)
c.4321A>C (p.Thr1441Pro)
2g.25742197C>ACA346073806ASXL2c.4137G>T (p.Gln1379His)
c.4140G>T (p.Gln1380His)
c.4056G>T (p.Gln1352His)
c.2589G>T (p.Gln863His)
c.3774G>T (p.Gln1258His)
c.3360G>T (p.Gln1120His)
c.3966G>T (p.Gln1322His)
c.4320G>T (p.Gln1440His)
2g.25742197C>GCA346073807ASXL2c.4137G>C (p.Gln1379His)
c.4140G>C (p.Gln1380His)
c.4056G>C (p.Gln1352His)
c.2589G>C (p.Gln863His)
c.3774G>C (p.Gln1258His)
c.3360G>C (p.Gln1120His)
c.3966G>C (p.Gln1322His)
c.4320G>C (p.Gln1440His)
2g.25742197C>TCA425181383ASXL2c.4137G>A (p.Gln1379=)
c.4140G>A (p.Gln1380=)
c.4056G>A (p.Gln1352=)
c.2589G>A (p.Gln863=)
c.3774G>A (p.Gln1258=)
c.3360G>A (p.Gln1120=)
c.3966G>A (p.Gln1322=)
c.4320G>A (p.Gln1440=)
2g.25742198T>ACA346073808ASXL2c.4136A>T (p.Gln1379Leu)
c.4139A>T (p.Gln1380Leu)
c.4055A>T (p.Gln1352Leu)
c.2588A>T (p.Gln863Leu)
c.3773A>T (p.Gln1258Leu)
c.3359A>T (p.Gln1120Leu)
c.3965A>T (p.Gln1322Leu)
c.4319A>T (p.Gln1440Leu)
2g.25742198T>CCA346073809ASXL2c.4136A>G (p.Gln1379Arg)
c.4139A>G (p.Gln1380Arg)
c.4055A>G (p.Gln1352Arg)
c.2588A>G (p.Gln863Arg)
c.3773A>G (p.Gln1258Arg)
c.3359A>G (p.Gln1120Arg)
c.3965A>G (p.Gln1322Arg)
c.4319A>G (p.Gln1440Arg)
2g.25742198T>GCA346073810ASXL2c.4136A>C (p.Gln1379Pro)
c.4139A>C (p.Gln1380Pro)
c.4055A>C (p.Gln1352Pro)
c.2588A>C (p.Gln863Pro)
c.3773A>C (p.Gln1258Pro)
c.3359A>C (p.Gln1120Pro)
c.3965A>C (p.Gln1322Pro)
c.4319A>C (p.Gln1440Pro)
2g.25742199G>ACA346073813ASXL2c.4135C>T (p.Gln1379Ter)
c.4138C>T (p.Gln1380Ter)
c.4054C>T (p.Gln1352Ter)
c.2587C>T (p.Gln863Ter)
c.3772C>T (p.Gln1258Ter)
c.3358C>T (p.Gln1120Ter)
c.3964C>T (p.Gln1322Ter)
c.4318C>T (p.Gln1440Ter)
2g.25742199G>CCA346073812ASXL2c.4135C>G (p.Gln1379Glu)
c.4138C>G (p.Gln1380Glu)
c.4054C>G (p.Gln1352Glu)
c.2587C>G (p.Gln863Glu)
c.3772C>G (p.Gln1258Glu)
c.3358C>G (p.Gln1120Glu)
c.3964C>G (p.Gln1322Glu)
c.4318C>G (p.Gln1440Glu)
2g.25742199G>TCA346073811ASXL2c.4135C>A (p.Gln1379Lys)
c.4138C>A (p.Gln1380Lys)
c.4054C>A (p.Gln1352Lys)
c.2587C>A (p.Gln863Lys)
c.3772C>A (p.Gln1258Lys)
c.3358C>A (p.Gln1120Lys)
c.3964C>A (p.Gln1322Lys)
c.4318C>A (p.Gln1440Lys)
2g.25742200G>ACA425181384ASXL2c.4134C>T (p.Gly1378=)
c.4137C>T (p.Gly1379=)
c.4053C>T (p.Gly1351=)
c.2586C>T (p.Gly862=)
c.3771C>T (p.Gly1257=)
c.3357C>T (p.Gly1119=)
c.3963C>T (p.Gly1321=)
c.4317C>T (p.Gly1439=)
2g.25742200G>CCA425181385ASXL2c.4134C>G (p.Gly1378=)
c.4137C>G (p.Gly1379=)
c.4053C>G (p.Gly1351=)
c.2586C>G (p.Gly862=)
c.3771C>G (p.Gly1257=)
c.3357C>G (p.Gly1119=)
c.3963C>G (p.Gly1321=)
c.4317C>G (p.Gly1439=)
2g.25742200G>TCA425181386ASXL2c.4134C>A (p.Gly1378=)
c.4137C>A (p.Gly1379=)
c.4053C>A (p.Gly1351=)
c.2586C>A (p.Gly862=)
c.3771C>A (p.Gly1257=)
c.3357C>A (p.Gly1119=)
c.3963C>A (p.Gly1321=)
c.4317C>A (p.Gly1439=)
2g.25742201C>ACA346073816ASXL2c.4133G>T (p.Gly1378Val)
c.4136G>T (p.Gly1379Val)
c.4052G>T (p.Gly1351Val)
c.2585G>T (p.Gly862Val)
c.3770G>T (p.Gly1257Val)
c.3356G>T (p.Gly1119Val)
c.3962G>T (p.Gly1321Val)
c.4316G>T (p.Gly1439Val)
2g.25742201C=CA1239490360ASXL2c.4133G= (p.Gly1378=)
c.4136G= (p.Gly1379=)
c.4052G= (p.Gly1351=)
c.2585G= (p.Gly862=)
c.3770G= (p.Gly1257=)
c.3356G= (p.Gly1119=)
c.3962G= (p.Gly1321=)
c.4316G= (p.Gly1439=)
2g.25742201C>GCA346073814ASXL2c.4133G>C (p.Gly1378Ala)
c.4136G>C (p.Gly1379Ala)
c.4052G>C (p.Gly1351Ala)
c.2585G>C (p.Gly862Ala)
c.3770G>C (p.Gly1257Ala)
c.3356G>C (p.Gly1119Ala)
c.3962G>C (p.Gly1321Ala)
c.4316G>C (p.Gly1439Ala)
2g.25742201C>TCA346073815ASXL2c.4133G>A (p.Gly1378Asp)
c.4136G>A (p.Gly1379Asp)
c.4052G>A (p.Gly1351Asp)
c.2585G>A (p.Gly862Asp)
c.3770G>A (p.Gly1257Asp)
c.3356G>A (p.Gly1119Asp)
c.3962G>A (p.Gly1321Asp)
c.4316G>A (p.Gly1439Asp)
dbSNP gnomAD v3 gnomAD v4
2g.25742202C>ACA346073817ASXL2c.4132G>T (p.Gly1378Cys)
c.4135G>T (p.Gly1379Cys)
c.4051G>T (p.Gly1351Cys)
c.2584G>T (p.Gly862Cys)
c.3769G>T (p.Gly1257Cys)
c.3355G>T (p.Gly1119Cys)
c.3961G>T (p.Gly1321Cys)
c.4315G>T (p.Gly1439Cys)
2g.25742202C=CA1239490361ASXL2c.4132G= (p.Gly1378=)
c.4135G= (p.Gly1379=)
c.4051G= (p.Gly1351=)
c.2584G= (p.Gly862=)
c.3769G= (p.Gly1257=)
c.3355G= (p.Gly1119=)
c.3961G= (p.Gly1321=)
c.4315G= (p.Gly1439=)
2g.25742202C>GCA346073818ASXL2c.4132G>C (p.Gly1378Arg)
c.4135G>C (p.Gly1379Arg)
c.4051G>C (p.Gly1351Arg)
c.2584G>C (p.Gly862Arg)
c.3769G>C (p.Gly1257Arg)
c.3355G>C (p.Gly1119Arg)
c.3961G>C (p.Gly1321Arg)
c.4315G>C (p.Gly1439Arg)
2g.25742202C>TCA1557354ASXL2c.4132G>A (p.Gly1378Ser)
c.4135G>A (p.Gly1379Ser)
c.4051G>A (p.Gly1351Ser)
c.2584G>A (p.Gly862Ser)
c.3769G>A (p.Gly1257Ser)
c.3355G>A (p.Gly1119Ser)
c.3961G>A (p.Gly1321Ser)
c.4315G>A (p.Gly1439Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742203A>CCA346073820ASXL2c.4131T>G (p.His1377Gln)
c.4134T>G (p.His1378Gln)
c.4050T>G (p.His1350Gln)
c.2583T>G (p.His861Gln)
c.3768T>G (p.His1256Gln)
c.3354T>G (p.His1118Gln)
c.3960T>G (p.His1320Gln)
c.4314T>G (p.His1438Gln)
2g.25742203A>GCA425181387ASXL2c.4131T>C (p.His1377=)
c.4134T>C (p.His1378=)
c.4050T>C (p.His1350=)
c.2583T>C (p.His861=)
c.3768T>C (p.His1256=)
c.3354T>C (p.His1118=)
c.3960T>C (p.His1320=)
c.4314T>C (p.His1438=)
ClinVar gnomAD v4
2g.25742203A>TCA346073822ASXL2c.4131T>A (p.His1377Gln)
c.4134T>A (p.His1378Gln)
c.4050T>A (p.His1350Gln)
c.2583T>A (p.His861Gln)
c.3768T>A (p.His1256Gln)
c.3354T>A (p.His1118Gln)
c.3960T>A (p.His1320Gln)
c.4314T>A (p.His1438Gln)
2g.25742204T>ACA346073824ASXL2c.4130A>T (p.His1377Leu)
c.4133A>T (p.His1378Leu)
c.4049A>T (p.His1350Leu)
c.2582A>T (p.His861Leu)
c.3767A>T (p.His1256Leu)
c.3353A>T (p.His1118Leu)
c.3959A>T (p.His1320Leu)
c.4313A>T (p.His1438Leu)
2g.25742204T>CCA1557355ASXL2c.4130A>G (p.His1377Arg)
c.4133A>G (p.His1378Arg)
c.4049A>G (p.His1350Arg)
c.2582A>G (p.His861Arg)
c.3767A>G (p.His1256Arg)
c.3353A>G (p.His1118Arg)
c.3959A>G (p.His1320Arg)
c.4313A>G (p.His1438Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742204T>GCA346073827ASXL2c.4130A>C (p.His1377Pro)
c.4133A>C (p.His1378Pro)
c.4049A>C (p.His1350Pro)
c.2582A>C (p.His861Pro)
c.3767A>C (p.His1256Pro)
c.3353A>C (p.His1118Pro)
c.3959A>C (p.His1320Pro)
c.4313A>C (p.His1438Pro)
2g.25742204T=CA1239490362ASXL2c.4130A= (p.His1377=)
c.4133A= (p.His1378=)
c.4049A= (p.His1350=)
c.2582A= (p.His861=)
c.3767A= (p.His1256=)
c.3353A= (p.His1118=)
c.3959A= (p.His1320=)
c.4313A= (p.His1438=)
2g.25742205G>ACA346073829ASXL2c.4129C>T (p.His1377Tyr)
c.4132C>T (p.His1378Tyr)
c.4048C>T (p.His1350Tyr)
c.2581C>T (p.His861Tyr)
c.3766C>T (p.His1256Tyr)
c.3352C>T (p.His1118Tyr)
c.3958C>T (p.His1320Tyr)
c.4312C>T (p.His1438Tyr)
gnomAD v4
2g.25742205G>CCA346073831ASXL2c.4129C>G (p.His1377Asp)
c.4132C>G (p.His1378Asp)
c.4048C>G (p.His1350Asp)
c.2581C>G (p.His861Asp)
c.3766C>G (p.His1256Asp)
c.3352C>G (p.His1118Asp)
c.3958C>G (p.His1320Asp)
c.4312C>G (p.His1438Asp)
2g.25742205G>TCA346073833ASXL2c.4129C>A (p.His1377Asn)
c.4132C>A (p.His1378Asn)
c.4048C>A (p.His1350Asn)
c.2581C>A (p.His861Asn)
c.3766C>A (p.His1256Asn)
c.3352C>A (p.His1118Asn)
c.3958C>A (p.His1320Asn)
c.4312C>A (p.His1438Asn)
2g.25742206dupCA2658189293ASXL2c.4129dup (p.His1377ProfsTer?)
c.4132dup (p.His1378ProfsTer?)
c.4048dup (p.His1350ProfsTer?)
c.2581dup (p.His861ProfsTer?)
c.3766dup (p.His1256ProfsTer?)
c.3352dup (p.His1118ProfsTer?)
c.3958dup (p.His1320ProfsTer?)
c.4312dup (p.His1438ProfsTer?)
gnomAD v4
2g.25742206G>ACA43734185ASXL2c.4128C>T (p.Ser1376=)
c.4131C>T (p.Ser1377=)
c.4047C>T (p.Ser1349=)
c.2580C>T (p.Ser860=)
c.3765C>T (p.Ser1255=)
c.3351C>T (p.Ser1117=)
c.3957C>T (p.Ser1319=)
c.4311C>T (p.Ser1437=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742206G>CCA346073838ASXL2c.4128C>G (p.Ser1376Arg)
c.4131C>G (p.Ser1377Arg)
c.4047C>G (p.Ser1349Arg)
c.2580C>G (p.Ser860Arg)
c.3765C>G (p.Ser1255Arg)
c.3351C>G (p.Ser1117Arg)
c.3957C>G (p.Ser1319Arg)
c.4311C>G (p.Ser1437Arg)
2g.25742206G=CA1239490363ASXL2c.4128C= (p.Ser1376=)
c.4131C= (p.Ser1377=)
c.4047C= (p.Ser1349=)
c.2580C= (p.Ser860=)
c.3765C= (p.Ser1255=)
c.3351C= (p.Ser1117=)
c.3957C= (p.Ser1319=)
c.4311C= (p.Ser1437=)
2g.25742206G>TCA346073836ASXL2c.4128C>A (p.Ser1376Arg)
c.4131C>A (p.Ser1377Arg)
c.4047C>A (p.Ser1349Arg)
c.2580C>A (p.Ser860Arg)
c.3765C>A (p.Ser1255Arg)
c.3351C>A (p.Ser1117Arg)
c.3957C>A (p.Ser1319Arg)
c.4311C>A (p.Ser1437Arg)
2g.25742207C>ACA346073840ASXL2c.4127G>T (p.Ser1376Ile)
c.4130G>T (p.Ser1377Ile)
c.4046G>T (p.Ser1349Ile)
c.2579G>T (p.Ser860Ile)
c.3764G>T (p.Ser1255Ile)
c.3350G>T (p.Ser1117Ile)
c.3956G>T (p.Ser1319Ile)
c.4310G>T (p.Ser1437Ile)
2g.25742207C>GCA346073842ASXL2c.4127G>C (p.Ser1376Thr)
c.4130G>C (p.Ser1377Thr)
c.4046G>C (p.Ser1349Thr)
c.2579G>C (p.Ser860Thr)
c.3764G>C (p.Ser1255Thr)
c.3350G>C (p.Ser1117Thr)
c.3956G>C (p.Ser1319Thr)
c.4310G>C (p.Ser1437Thr)
2g.25742207C>TCA346073844ASXL2c.4127G>A (p.Ser1376Asn)
c.4130G>A (p.Ser1377Asn)
c.4046G>A (p.Ser1349Asn)
c.2579G>A (p.Ser860Asn)
c.3764G>A (p.Ser1255Asn)
c.3350G>A (p.Ser1117Asn)
c.3956G>A (p.Ser1319Asn)
c.4310G>A (p.Ser1437Asn)
2g.25742208T>ACA346073847ASXL2c.4126A>T (p.Ser1376Cys)
c.4129A>T (p.Ser1377Cys)
c.4045A>T (p.Ser1349Cys)
c.2578A>T (p.Ser860Cys)
c.3763A>T (p.Ser1255Cys)
c.3349A>T (p.Ser1117Cys)
c.3955A>T (p.Ser1319Cys)
c.4309A>T (p.Ser1437Cys)
2g.25742208T>CCA346073849ASXL2c.4126A>G (p.Ser1376Gly)
c.4129A>G (p.Ser1377Gly)
c.4045A>G (p.Ser1349Gly)
c.2578A>G (p.Ser860Gly)
c.3763A>G (p.Ser1255Gly)
c.3349A>G (p.Ser1117Gly)
c.3955A>G (p.Ser1319Gly)
c.4309A>G (p.Ser1437Gly)
2g.25742208T>GCA346073851ASXL2c.4126A>C (p.Ser1376Arg)
c.4129A>C (p.Ser1377Arg)
c.4045A>C (p.Ser1349Arg)
c.2578A>C (p.Ser860Arg)
c.3763A>C (p.Ser1255Arg)
c.3349A>C (p.Ser1117Arg)
c.3955A>C (p.Ser1319Arg)
c.4309A>C (p.Ser1437Arg)
2g.25742209G>ACA425181388ASXL2c.4125C>T (p.Ser1375=)
c.4128C>T (p.Ser1376=)
c.4044C>T (p.Ser1348=)
c.2577C>T (p.Ser859=)
c.3762C>T (p.Ser1254=)
c.3348C>T (p.Ser1116=)
c.3954C>T (p.Ser1318=)
c.4308C>T (p.Ser1436=)
2g.25742209G>CCA346073854ASXL2c.4125C>G (p.Ser1375Arg)
c.4128C>G (p.Ser1376Arg)
c.4044C>G (p.Ser1348Arg)
c.2577C>G (p.Ser859Arg)
c.3762C>G (p.Ser1254Arg)
c.3348C>G (p.Ser1116Arg)
c.3954C>G (p.Ser1318Arg)
c.4308C>G (p.Ser1436Arg)
2g.25742209G>TCA346073856ASXL2c.4125C>A (p.Ser1375Arg)
c.4128C>A (p.Ser1376Arg)
c.4044C>A (p.Ser1348Arg)
c.2577C>A (p.Ser859Arg)
c.3762C>A (p.Ser1254Arg)
c.3348C>A (p.Ser1116Arg)
c.3954C>A (p.Ser1318Arg)
c.4308C>A (p.Ser1436Arg)
2g.25742210C>ACA346073858ASXL2c.4124G>T (p.Ser1375Ile)
c.4127G>T (p.Ser1376Ile)
c.4043G>T (p.Ser1348Ile)
c.2576G>T (p.Ser859Ile)
c.3761G>T (p.Ser1254Ile)
c.3347G>T (p.Ser1116Ile)
c.3953G>T (p.Ser1318Ile)
c.4307G>T (p.Ser1436Ile)
2g.25742210C>GCA346073859ASXL2c.4124G>C (p.Ser1375Thr)
c.4127G>C (p.Ser1376Thr)
c.4043G>C (p.Ser1348Thr)
c.2576G>C (p.Ser859Thr)
c.3761G>C (p.Ser1254Thr)
c.3347G>C (p.Ser1116Thr)
c.3953G>C (p.Ser1318Thr)
c.4307G>C (p.Ser1436Thr)
2g.25742210C>TCA346073861ASXL2c.4124G>A (p.Ser1375Asn)
c.4127G>A (p.Ser1376Asn)
c.4043G>A (p.Ser1348Asn)
c.2576G>A (p.Ser859Asn)
c.3761G>A (p.Ser1254Asn)
c.3347G>A (p.Ser1116Asn)
c.3953G>A (p.Ser1318Asn)
c.4307G>A (p.Ser1436Asn)
COSMIC COSMIC
2g.25742211T>ACA346073862ASXL2c.4123A>T (p.Ser1375Cys)
c.4126A>T (p.Ser1376Cys)
c.4042A>T (p.Ser1348Cys)
c.2575A>T (p.Ser859Cys)
c.3760A>T (p.Ser1254Cys)
c.3346A>T (p.Ser1116Cys)
c.3952A>T (p.Ser1318Cys)
c.4306A>T (p.Ser1436Cys)
2g.25742211T>CCA346073864ASXL2c.4123A>G (p.Ser1375Gly)
c.4126A>G (p.Ser1376Gly)
c.4042A>G (p.Ser1348Gly)
c.2575A>G (p.Ser859Gly)
c.3760A>G (p.Ser1254Gly)
c.3346A>G (p.Ser1116Gly)
c.3952A>G (p.Ser1318Gly)
c.4306A>G (p.Ser1436Gly)
2g.25742211T>GCA346073866ASXL2c.4123A>C (p.Ser1375Arg)
c.4126A>C (p.Ser1376Arg)
c.4042A>C (p.Ser1348Arg)
c.2575A>C (p.Ser859Arg)
c.3760A>C (p.Ser1254Arg)
c.3346A>C (p.Ser1116Arg)
c.3952A>C (p.Ser1318Arg)
c.4306A>C (p.Ser1436Arg)
2g.25742212G>ACA425354287ASXL2c.4122C>T (p.Pro1374=)
c.4125C>T (p.Pro1375=)
c.4041C>T (p.Pro1347=)
c.2574C>T (p.Pro858=)
c.3759C>T (p.Pro1253=)
c.3345C>T (p.Pro1115=)
c.3951C>T (p.Pro1317=)
c.4305C>T (p.Pro1435=)
gnomAD v4
2g.25742212G>CCA425354289ASXL2c.4122C>G (p.Pro1374=)
c.4125C>G (p.Pro1375=)
c.4041C>G (p.Pro1347=)
c.2574C>G (p.Pro858=)
c.3759C>G (p.Pro1253=)
c.3345C>G (p.Pro1115=)
c.3951C>G (p.Pro1317=)
c.4305C>G (p.Pro1435=)
2g.25742212G>TCA425354288ASXL2c.4122C>A (p.Pro1374=)
c.4125C>A (p.Pro1375=)
c.4041C>A (p.Pro1347=)
c.2574C>A (p.Pro858=)
c.3759C>A (p.Pro1253=)
c.3345C>A (p.Pro1115=)
c.3951C>A (p.Pro1317=)
c.4305C>A (p.Pro1435=)
2g.25742213G>ACA346073871ASXL2c.4121C>T (p.Pro1374Leu)
c.4124C>T (p.Pro1375Leu)
c.4040C>T (p.Pro1347Leu)
c.2573C>T (p.Pro858Leu)
c.3758C>T (p.Pro1253Leu)
c.3344C>T (p.Pro1115Leu)
c.3950C>T (p.Pro1317Leu)
c.4304C>T (p.Pro1435Leu)
dbSNP
2g.25742213G>CCA346073873ASXL2c.4121C>G (p.Pro1374Arg)
c.4124C>G (p.Pro1375Arg)
c.4040C>G (p.Pro1347Arg)
c.2573C>G (p.Pro858Arg)
c.3758C>G (p.Pro1253Arg)
c.3344C>G (p.Pro1115Arg)
c.3950C>G (p.Pro1317Arg)
c.4304C>G (p.Pro1435Arg)
2g.25742213G=CA1239490364ASXL2c.4121C= (p.Pro1374=)
c.4124C= (p.Pro1375=)
c.4040C= (p.Pro1347=)
c.2573C= (p.Pro858=)
c.3758C= (p.Pro1253=)
c.3344C= (p.Pro1115=)
c.3950C= (p.Pro1317=)
c.4304C= (p.Pro1435=)
2g.25742213G>TCA346073869ASXL2c.4121C>A (p.Pro1374His)
c.4124C>A (p.Pro1375His)
c.4040C>A (p.Pro1347His)
c.2573C>A (p.Pro858His)
c.3758C>A (p.Pro1253His)
c.3344C>A (p.Pro1115His)
c.3950C>A (p.Pro1317His)
c.4304C>A (p.Pro1435His)
2g.25742214G>ACA346073876ASXL2c.4120C>T (p.Pro1374Ser)
c.4123C>T (p.Pro1375Ser)
c.4039C>T (p.Pro1347Ser)
c.2572C>T (p.Pro858Ser)
c.3757C>T (p.Pro1253Ser)
c.3343C>T (p.Pro1115Ser)
c.3949C>T (p.Pro1317Ser)
c.4303C>T (p.Pro1435Ser)
dbSNP
2g.25742214G>CCA346073880ASXL2c.4120C>G (p.Pro1374Ala)
c.4123C>G (p.Pro1375Ala)
c.4039C>G (p.Pro1347Ala)
c.2572C>G (p.Pro858Ala)
c.3757C>G (p.Pro1253Ala)
c.3343C>G (p.Pro1115Ala)
c.3949C>G (p.Pro1317Ala)
c.4303C>G (p.Pro1435Ala)
dbSNP gnomAD v2 gnomAD v4
2g.25742214G=CA1239490365ASXL2c.4120C= (p.Pro1374=)
c.4123C= (p.Pro1375=)
c.4039C= (p.Pro1347=)
c.2572C= (p.Pro858=)
c.3757C= (p.Pro1253=)
c.3343C= (p.Pro1115=)
c.3949C= (p.Pro1317=)
c.4303C= (p.Pro1435=)
2g.25742214G>TCA346073877ASXL2c.4120C>A (p.Pro1374Thr)
c.4123C>A (p.Pro1375Thr)
c.4039C>A (p.Pro1347Thr)
c.2572C>A (p.Pro858Thr)
c.3757C>A (p.Pro1253Thr)
c.3343C>A (p.Pro1115Thr)
c.3949C>A (p.Pro1317Thr)
c.4303C>A (p.Pro1435Thr)
2g.25742215A=CA1239490366ASXL2c.4119T= (p.Asn1373=)
c.4122T= (p.Asn1374=)
c.4038T= (p.Asn1346=)
c.2571T= (p.Asn857=)
c.3756T= (p.Asn1252=)
c.3342T= (p.Asn1114=)
c.3948T= (p.Asn1316=)
c.4302T= (p.Asn1434=)
2g.25742215A>CCA346073882ASXL2c.4119T>G (p.Asn1373Lys)
c.4122T>G (p.Asn1374Lys)
c.4038T>G (p.Asn1346Lys)
c.2571T>G (p.Asn857Lys)
c.3756T>G (p.Asn1252Lys)
c.3342T>G (p.Asn1114Lys)
c.3948T>G (p.Asn1316Lys)
c.4302T>G (p.Asn1434Lys)
2g.25742215A>GCA1557356ASXL2c.4119T>C (p.Asn1373=)
c.4122T>C (p.Asn1374=)
c.4038T>C (p.Asn1346=)
c.2571T>C (p.Asn857=)
c.3756T>C (p.Asn1252=)
c.3342T>C (p.Asn1114=)
c.3948T>C (p.Asn1316=)
c.4302T>C (p.Asn1434=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742215A>TCA346073886ASXL2c.4119T>A (p.Asn1373Lys)
c.4122T>A (p.Asn1374Lys)
c.4038T>A (p.Asn1346Lys)
c.2571T>A (p.Asn857Lys)
c.3756T>A (p.Asn1252Lys)
c.3342T>A (p.Asn1114Lys)
c.3948T>A (p.Asn1316Lys)
c.4302T>A (p.Asn1434Lys)
2g.25742216T>ACA346073889ASXL2c.4118A>T (p.Asn1373Ile)
c.4121A>T (p.Asn1374Ile)
c.4037A>T (p.Asn1346Ile)
c.2570A>T (p.Asn857Ile)
c.3755A>T (p.Asn1252Ile)
c.3341A>T (p.Asn1114Ile)
c.3947A>T (p.Asn1316Ile)
c.4301A>T (p.Asn1434Ile)
2g.25742216T>CCA1557357ASXL2c.4118A>G (p.Asn1373Ser)
c.4121A>G (p.Asn1374Ser)
c.4037A>G (p.Asn1346Ser)
c.2570A>G (p.Asn857Ser)
c.3755A>G (p.Asn1252Ser)
c.3341A>G (p.Asn1114Ser)
c.3947A>G (p.Asn1316Ser)
c.4301A>G (p.Asn1434Ser)
dbSNP ExAC gnomAD v2
2g.25742216T>GCA346073892ASXL2c.4118A>C (p.Asn1373Thr)
c.4121A>C (p.Asn1374Thr)
c.4037A>C (p.Asn1346Thr)
c.2570A>C (p.Asn857Thr)
c.3755A>C (p.Asn1252Thr)
c.3341A>C (p.Asn1114Thr)
c.3947A>C (p.Asn1316Thr)
c.4301A>C (p.Asn1434Thr)
2g.25742216T=CA1239490367ASXL2c.4118A= (p.Asn1373=)
c.4121A= (p.Asn1374=)
c.4037A= (p.Asn1346=)
c.2570A= (p.Asn857=)
c.3755A= (p.Asn1252=)
c.3341A= (p.Asn1114=)
c.3947A= (p.Asn1316=)
c.4301A= (p.Asn1434=)
2g.25742217T>ACA346073895ASXL2c.4117A>T (p.Asn1373Tyr)
c.4120A>T (p.Asn1374Tyr)
c.4036A>T (p.Asn1346Tyr)
c.2569A>T (p.Asn857Tyr)
c.3754A>T (p.Asn1252Tyr)
c.3340A>T (p.Asn1114Tyr)
c.3946A>T (p.Asn1316Tyr)
c.4300A>T (p.Asn1434Tyr)
2g.25742217T>CCA346073897ASXL2c.4117A>G (p.Asn1373Asp)
c.4120A>G (p.Asn1374Asp)
c.4036A>G (p.Asn1346Asp)
c.2569A>G (p.Asn857Asp)
c.3754A>G (p.Asn1252Asp)
c.3340A>G (p.Asn1114Asp)
c.3946A>G (p.Asn1316Asp)
c.4300A>G (p.Asn1434Asp)
2g.25742217T>GCA346073899ASXL2c.4117A>C (p.Asn1373His)
c.4120A>C (p.Asn1374His)
c.4036A>C (p.Asn1346His)
c.2569A>C (p.Asn857His)
c.3754A>C (p.Asn1252His)
c.3340A>C (p.Asn1114His)
c.3946A>C (p.Asn1316His)
c.4300A>C (p.Asn1434His)
2g.25742218C>ACA346073902ASXL2c.4116G>T (p.Met1372Ile)
c.4119G>T (p.Met1373Ile)
c.4035G>T (p.Met1345Ile)
c.2568G>T (p.Met856Ile)
c.3753G>T (p.Met1251Ile)
c.3339G>T (p.Met1113Ile)
c.3945G>T (p.Met1315Ile)
c.4299G>T (p.Met1433Ile)
2g.25742218C>GCA346073904ASXL2c.4116G>C (p.Met1372Ile)
c.4119G>C (p.Met1373Ile)
c.4035G>C (p.Met1345Ile)
c.2568G>C (p.Met856Ile)
c.3753G>C (p.Met1251Ile)
c.3339G>C (p.Met1113Ile)
c.3945G>C (p.Met1315Ile)
c.4299G>C (p.Met1433Ile)
2g.25742218C>TCA346073906ASXL2c.4116G>A (p.Met1372Ile)
c.4119G>A (p.Met1373Ile)
c.4035G>A (p.Met1345Ile)
c.2568G>A (p.Met856Ile)
c.3753G>A (p.Met1251Ile)
c.3339G>A (p.Met1113Ile)
c.3945G>A (p.Met1315Ile)
c.4299G>A (p.Met1433Ile)
2g.25742219A=CA1239490368ASXL2c.4115T= (p.Met1372=)
c.4118T= (p.Met1373=)
c.4034T= (p.Met1345=)
c.2567T= (p.Met856=)
c.3752T= (p.Met1251=)
c.3338T= (p.Met1113=)
c.3944T= (p.Met1315=)
c.4298T= (p.Met1433=)
2g.25742219A>CCA346073910ASXL2c.4115T>G (p.Met1372Arg)
c.4118T>G (p.Met1373Arg)
c.4034T>G (p.Met1345Arg)
c.2567T>G (p.Met856Arg)
c.3752T>G (p.Met1251Arg)
c.3338T>G (p.Met1113Arg)
c.3944T>G (p.Met1315Arg)
c.4298T>G (p.Met1433Arg)
2g.25742219A>GCA1557358ASXL2c.4115T>C (p.Met1372Thr)
c.4118T>C (p.Met1373Thr)
c.4034T>C (p.Met1345Thr)
c.2567T>C (p.Met856Thr)
c.3752T>C (p.Met1251Thr)
c.3338T>C (p.Met1113Thr)
c.3944T>C (p.Met1315Thr)
c.4298T>C (p.Met1433Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742219A>TCA346073908ASXL2c.4115T>A (p.Met1372Lys)
c.4118T>A (p.Met1373Lys)
c.4034T>A (p.Met1345Lys)
c.2567T>A (p.Met856Lys)
c.3752T>A (p.Met1251Lys)
c.3338T>A (p.Met1113Lys)
c.3944T>A (p.Met1315Lys)
c.4298T>A (p.Met1433Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742220T>ACA346073912ASXL2c.4114A>T (p.Met1372Leu)
c.4117A>T (p.Met1373Leu)
c.4033A>T (p.Met1345Leu)
c.2566A>T (p.Met856Leu)
c.3751A>T (p.Met1251Leu)
c.3337A>T (p.Met1113Leu)
c.3943A>T (p.Met1315Leu)
c.4297A>T (p.Met1433Leu)
2g.25742220T>CCA1557359ASXL2c.4114A>G (p.Met1372Val)
c.4117A>G (p.Met1373Val)
c.4033A>G (p.Met1345Val)
c.2566A>G (p.Met856Val)
c.3751A>G (p.Met1251Val)
c.3337A>G (p.Met1113Val)
c.3943A>G (p.Met1315Val)
c.4297A>G (p.Met1433Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742220T>GCA346073915ASXL2c.4114A>C (p.Met1372Leu)
c.4117A>C (p.Met1373Leu)
c.4033A>C (p.Met1345Leu)
c.2566A>C (p.Met856Leu)
c.3751A>C (p.Met1251Leu)
c.3337A>C (p.Met1113Leu)
c.3943A>C (p.Met1315Leu)
c.4297A>C (p.Met1433Leu)
gnomAD v4
2g.25742220T=CA1239490369ASXL2c.4114A= (p.Met1372=)
c.4117A= (p.Met1373=)
c.4033A= (p.Met1345=)
c.2566A= (p.Met856=)
c.3751A= (p.Met1251=)
c.3337A= (p.Met1113=)
c.3943A= (p.Met1315=)
c.4297A= (p.Met1433=)
2g.25742221A>CCA425354301ASXL2c.4113T>G (p.Ala1371=)
c.4116T>G (p.Ala1372=)
c.4032T>G (p.Ala1344=)
c.2565T>G (p.Ala855=)
c.3750T>G (p.Ala1250=)
c.3336T>G (p.Ala1112=)
c.3942T>G (p.Ala1314=)
c.4296T>G (p.Ala1432=)
2g.25742221A>GCA425354302ASXL2c.4113T>C (p.Ala1371=)
c.4116T>C (p.Ala1372=)
c.4032T>C (p.Ala1344=)
c.2565T>C (p.Ala855=)
c.3750T>C (p.Ala1250=)
c.3336T>C (p.Ala1112=)
c.3942T>C (p.Ala1314=)
c.4296T>C (p.Ala1432=)
2g.25742221A>TCA425354303ASXL2c.4113T>A (p.Ala1371=)
c.4116T>A (p.Ala1372=)
c.4032T>A (p.Ala1344=)
c.2565T>A (p.Ala855=)
c.3750T>A (p.Ala1250=)
c.3336T>A (p.Ala1112=)
c.3942T>A (p.Ala1314=)
c.4296T>A (p.Ala1432=)
2g.25742222G>ACA346073918ASXL2c.4112C>T (p.Ala1371Val)
c.4115C>T (p.Ala1372Val)
c.4031C>T (p.Ala1344Val)
c.2564C>T (p.Ala855Val)
c.3749C>T (p.Ala1250Val)
c.3335C>T (p.Ala1112Val)
c.3941C>T (p.Ala1314Val)
c.4295C>T (p.Ala1432Val)
ClinVar dbSNP
2g.25742222G>CCA346073919ASXL2c.4112C>G (p.Ala1371Gly)
c.4115C>G (p.Ala1372Gly)
c.4031C>G (p.Ala1344Gly)
c.2564C>G (p.Ala855Gly)
c.3749C>G (p.Ala1250Gly)
c.3335C>G (p.Ala1112Gly)
c.3941C>G (p.Ala1314Gly)
c.4295C>G (p.Ala1432Gly)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.25742222G=CA1239490370ASXL2c.4112C= (p.Ala1371=)
c.4115C= (p.Ala1372=)
c.4031C= (p.Ala1344=)
c.2564C= (p.Ala855=)
c.3749C= (p.Ala1250=)
c.3335C= (p.Ala1112=)
c.3941C= (p.Ala1314=)
c.4295C= (p.Ala1432=)
2g.25742222G>TCA346073921ASXL2c.4112C>A (p.Ala1371Asp)
c.4115C>A (p.Ala1372Asp)
c.4031C>A (p.Ala1344Asp)
c.2564C>A (p.Ala855Asp)
c.3749C>A (p.Ala1250Asp)
c.3335C>A (p.Ala1112Asp)
c.3941C>A (p.Ala1314Asp)
c.4295C>A (p.Ala1432Asp)
2g.25742223C>ACA346073924ASXL2c.4111G>T (p.Ala1371Ser)
c.4114G>T (p.Ala1372Ser)
c.4030G>T (p.Ala1344Ser)
c.2563G>T (p.Ala855Ser)
c.3748G>T (p.Ala1250Ser)
c.3334G>T (p.Ala1112Ser)
c.3940G>T (p.Ala1314Ser)
c.4294G>T (p.Ala1432Ser)
2g.25742223C>GCA346073926ASXL2c.4111G>C (p.Ala1371Pro)
c.4114G>C (p.Ala1372Pro)
c.4030G>C (p.Ala1344Pro)
c.2563G>C (p.Ala855Pro)
c.3748G>C (p.Ala1250Pro)
c.3334G>C (p.Ala1112Pro)
c.3940G>C (p.Ala1314Pro)
c.4294G>C (p.Ala1432Pro)
2g.25742223C>TCA346073928ASXL2c.4111G>A (p.Ala1371Thr)
c.4114G>A (p.Ala1372Thr)
c.4030G>A (p.Ala1344Thr)
c.2563G>A (p.Ala855Thr)
c.3748G>A (p.Ala1250Thr)
c.3334G>A (p.Ala1112Thr)
c.3940G>A (p.Ala1314Thr)
c.4294G>A (p.Ala1432Thr)
2g.25742224T>ACA346073931ASXL2c.4110A>T (p.Gln1370His)
c.4113A>T (p.Gln1371His)
c.4029A>T (p.Gln1343His)
c.2562A>T (p.Gln854His)
c.3747A>T (p.Gln1249His)
c.3333A>T (p.Gln1111His)
c.3939A>T (p.Gln1313His)
c.4293A>T (p.Gln1431His)
2g.25742224T>CCA425354307ASXL2c.4110A>G (p.Gln1370=)
c.4113A>G (p.Gln1371=)
c.4029A>G (p.Gln1343=)
c.2562A>G (p.Gln854=)
c.3747A>G (p.Gln1249=)
c.3333A>G (p.Gln1111=)
c.3939A>G (p.Gln1313=)
c.4293A>G (p.Gln1431=)
gnomAD v4
2g.25742224T>GCA346073933ASXL2c.4110A>C (p.Gln1370His)
c.4113A>C (p.Gln1371His)
c.4029A>C (p.Gln1343His)
c.2562A>C (p.Gln854His)
c.3747A>C (p.Gln1249His)
c.3333A>C (p.Gln1111His)
c.3939A>C (p.Gln1313His)
c.4293A>C (p.Gln1431His)
2g.25742225T>ACA346073940ASXL2c.4109A>T (p.Gln1370Leu)
c.4112A>T (p.Gln1371Leu)
c.4028A>T (p.Gln1343Leu)
c.2561A>T (p.Gln854Leu)
c.3746A>T (p.Gln1249Leu)
c.3332A>T (p.Gln1111Leu)
c.3938A>T (p.Gln1313Leu)
c.4292A>T (p.Gln1431Leu)
2g.25742225T>CCA346073938ASXL2c.4109A>G (p.Gln1370Arg)
c.4112A>G (p.Gln1371Arg)
c.4028A>G (p.Gln1343Arg)
c.2561A>G (p.Gln854Arg)
c.3746A>G (p.Gln1249Arg)
c.3332A>G (p.Gln1111Arg)
c.3938A>G (p.Gln1313Arg)
c.4292A>G (p.Gln1431Arg)
2g.25742225T>GCA346073936ASXL2c.4109A>C (p.Gln1370Pro)
c.4112A>C (p.Gln1371Pro)
c.4028A>C (p.Gln1343Pro)
c.2561A>C (p.Gln854Pro)
c.3746A>C (p.Gln1249Pro)
c.3332A>C (p.Gln1111Pro)
c.3938A>C (p.Gln1313Pro)
c.4292A>C (p.Gln1431Pro)
2g.25742226G>ACA346073943ASXL2c.4108C>T (p.Gln1370Ter)
c.4111C>T (p.Gln1371Ter)
c.4027C>T (p.Gln1343Ter)
c.2560C>T (p.Gln854Ter)
c.3745C>T (p.Gln1249Ter)
c.3331C>T (p.Gln1111Ter)
c.3937C>T (p.Gln1313Ter)
c.4291C>T (p.Gln1431Ter)
2g.25742226G>CCA346073944ASXL2c.4108C>G (p.Gln1370Glu)
c.4111C>G (p.Gln1371Glu)
c.4027C>G (p.Gln1343Glu)
c.2560C>G (p.Gln854Glu)
c.3745C>G (p.Gln1249Glu)
c.3331C>G (p.Gln1111Glu)
c.3937C>G (p.Gln1313Glu)
c.4291C>G (p.Gln1431Glu)
2g.25742226G=CA1239490371ASXL2c.4108C= (p.Gln1370=)
c.4111C= (p.Gln1371=)
c.4027C= (p.Gln1343=)
c.2560C= (p.Gln854=)
c.3745C= (p.Gln1249=)
c.3331C= (p.Gln1111=)
c.3937C= (p.Gln1313=)
c.4291C= (p.Gln1431=)
2g.25742226G>TCA1557360ASXL2c.4108C>A (p.Gln1370Lys)
c.4111C>A (p.Gln1371Lys)
c.4027C>A (p.Gln1343Lys)
c.2560C>A (p.Gln854Lys)
c.3745C>A (p.Gln1249Lys)
c.3331C>A (p.Gln1111Lys)
c.3937C>A (p.Gln1313Lys)
c.4291C>A (p.Gln1431Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742227G>ACA425354311ASXL2c.4107C>T (p.Ser1369=)
c.4110C>T (p.Ser1370=)
c.4026C>T (p.Ser1342=)
c.2559C>T (p.Ser853=)
c.3744C>T (p.Ser1248=)
c.3330C>T (p.Ser1110=)
c.3936C>T (p.Ser1312=)
c.4290C>T (p.Ser1430=)
gnomAD v4
2g.25742227G>CCA346073948ASXL2c.4107C>G (p.Ser1369Arg)
c.4110C>G (p.Ser1370Arg)
c.4026C>G (p.Ser1342Arg)
c.2559C>G (p.Ser853Arg)
c.3744C>G (p.Ser1248Arg)
c.3330C>G (p.Ser1110Arg)
c.3936C>G (p.Ser1312Arg)
c.4290C>G (p.Ser1430Arg)
2g.25742227G>TCA346073949ASXL2c.4107C>A (p.Ser1369Arg)
c.4110C>A (p.Ser1370Arg)
c.4026C>A (p.Ser1342Arg)
c.2559C>A (p.Ser853Arg)
c.3744C>A (p.Ser1248Arg)
c.3330C>A (p.Ser1110Arg)
c.3936C>A (p.Ser1312Arg)
c.4290C>A (p.Ser1430Arg)
2g.25742228C>ACA346073952ASXL2c.4106G>T (p.Ser1369Ile)
c.4109G>T (p.Ser1370Ile)
c.4025G>T (p.Ser1342Ile)
c.2558G>T (p.Ser853Ile)
c.3743G>T (p.Ser1248Ile)
c.3329G>T (p.Ser1110Ile)
c.3935G>T (p.Ser1312Ile)
c.4289G>T (p.Ser1430Ile)
2g.25742228C>GCA346073954ASXL2c.4106G>C (p.Ser1369Thr)
c.4109G>C (p.Ser1370Thr)
c.4025G>C (p.Ser1342Thr)
c.2558G>C (p.Ser853Thr)
c.3743G>C (p.Ser1248Thr)
c.3329G>C (p.Ser1110Thr)
c.3935G>C (p.Ser1312Thr)
c.4289G>C (p.Ser1430Thr)
2g.25742228C>TCA346073956ASXL2c.4106G>A (p.Ser1369Asn)
c.4109G>A (p.Ser1370Asn)
c.4025G>A (p.Ser1342Asn)
c.2558G>A (p.Ser853Asn)
c.3743G>A (p.Ser1248Asn)
c.3329G>A (p.Ser1110Asn)
c.3935G>A (p.Ser1312Asn)
c.4289G>A (p.Ser1430Asn)
gnomAD v4
2g.25742229T>ACA346073959ASXL2c.4105A>T (p.Ser1369Cys)
c.4108A>T (p.Ser1370Cys)
c.4024A>T (p.Ser1342Cys)
c.2557A>T (p.Ser853Cys)
c.3742A>T (p.Ser1248Cys)
c.3328A>T (p.Ser1110Cys)
c.3934A>T (p.Ser1312Cys)
c.4288A>T (p.Ser1430Cys)
2g.25742229T>CCA346073961ASXL2c.4105A>G (p.Ser1369Gly)
c.4108A>G (p.Ser1370Gly)
c.4024A>G (p.Ser1342Gly)
c.2557A>G (p.Ser853Gly)
c.3742A>G (p.Ser1248Gly)
c.3328A>G (p.Ser1110Gly)
c.3934A>G (p.Ser1312Gly)
c.4288A>G (p.Ser1430Gly)
2g.25742229T>GCA346073963ASXL2c.4105A>C (p.Ser1369Arg)
c.4108A>C (p.Ser1370Arg)
c.4024A>C (p.Ser1342Arg)
c.2557A>C (p.Ser853Arg)
c.3742A>C (p.Ser1248Arg)
c.3328A>C (p.Ser1110Arg)
c.3934A>C (p.Ser1312Arg)
c.4288A>C (p.Ser1430Arg)
2g.25742230A=CA1239490372ASXL2c.4104T= (p.Ala1368=)
c.4107T= (p.Ala1369=)
c.4023T= (p.Ala1341=)
c.2556T= (p.Ala852=)
c.3741T= (p.Ala1247=)
c.3327T= (p.Ala1109=)
c.3933T= (p.Ala1311=)
c.4287T= (p.Ala1429=)
2g.25742230A>CCA425354315ASXL2c.4104T>G (p.Ala1368=)
c.4107T>G (p.Ala1369=)
c.4023T>G (p.Ala1341=)
c.2556T>G (p.Ala852=)
c.3741T>G (p.Ala1247=)
c.3327T>G (p.Ala1109=)
c.3933T>G (p.Ala1311=)
c.4287T>G (p.Ala1429=)
2g.25742230A>GCA425354317ASXL2c.4104T>C (p.Ala1368=)
c.4107T>C (p.Ala1369=)
c.4023T>C (p.Ala1341=)
c.2556T>C (p.Ala852=)
c.3741T>C (p.Ala1247=)
c.3327T>C (p.Ala1109=)
c.3933T>C (p.Ala1311=)
c.4287T>C (p.Ala1429=)
2g.25742230A>TCA1557361ASXL2c.4104T>A (p.Ala1368=)
c.4107T>A (p.Ala1369=)
c.4023T>A (p.Ala1341=)
c.2556T>A (p.Ala852=)
c.3741T>A (p.Ala1247=)
c.3327T>A (p.Ala1109=)
c.3933T>A (p.Ala1311=)
c.4287T>A (p.Ala1429=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742231G>ACA346073969ASXL2c.4103C>T (p.Ala1368Val)
c.4106C>T (p.Ala1369Val)
c.4022C>T (p.Ala1341Val)
c.2555C>T (p.Ala852Val)
c.3740C>T (p.Ala1247Val)
c.3326C>T (p.Ala1109Val)
c.3932C>T (p.Ala1311Val)
c.4286C>T (p.Ala1429Val)
dbSNP gnomAD v3 gnomAD v4
2g.25742231G>CCA346073971ASXL2c.4103C>G (p.Ala1368Gly)
c.4106C>G (p.Ala1369Gly)
c.4022C>G (p.Ala1341Gly)
c.2555C>G (p.Ala852Gly)
c.3740C>G (p.Ala1247Gly)
c.3326C>G (p.Ala1109Gly)
c.3932C>G (p.Ala1311Gly)
c.4286C>G (p.Ala1429Gly)
2g.25742231G=CA1239490373ASXL2c.4103C= (p.Ala1368=)
c.4106C= (p.Ala1369=)
c.4022C= (p.Ala1341=)
c.2555C= (p.Ala852=)
c.3740C= (p.Ala1247=)
c.3326C= (p.Ala1109=)
c.3932C= (p.Ala1311=)
c.4286C= (p.Ala1429=)
2g.25742231G>TCA346073967ASXL2c.4103C>A (p.Ala1368Asp)
c.4106C>A (p.Ala1369Asp)
c.4022C>A (p.Ala1341Asp)
c.2555C>A (p.Ala852Asp)
c.3740C>A (p.Ala1247Asp)
c.3326C>A (p.Ala1109Asp)
c.3932C>A (p.Ala1311Asp)
c.4286C>A (p.Ala1429Asp)
2g.25742232C>ACA346073973ASXL2c.4102G>T (p.Ala1368Ser)
c.4105G>T (p.Ala1369Ser)
c.4021G>T (p.Ala1341Ser)
c.2554G>T (p.Ala852Ser)
c.3739G>T (p.Ala1247Ser)
c.3325G>T (p.Ala1109Ser)
c.3931G>T (p.Ala1311Ser)
c.4285G>T (p.Ala1429Ser)
ClinVar dbSNP
2g.25742232C>GCA346073975ASXL2c.4102G>C (p.Ala1368Pro)
c.4105G>C (p.Ala1369Pro)
c.4021G>C (p.Ala1341Pro)
c.2554G>C (p.Ala852Pro)
c.3739G>C (p.Ala1247Pro)
c.3325G>C (p.Ala1109Pro)
c.3931G>C (p.Ala1311Pro)
c.4285G>C (p.Ala1429Pro)
2g.25742232C>TCA346073977ASXL2c.4102G>A (p.Ala1368Thr)
c.4105G>A (p.Ala1369Thr)
c.4021G>A (p.Ala1341Thr)
c.2554G>A (p.Ala852Thr)
c.3739G>A (p.Ala1247Thr)
c.3325G>A (p.Ala1109Thr)
c.3931G>A (p.Ala1311Thr)
c.4285G>A (p.Ala1429Thr)
2g.25742233A>CCA425354324ASXL2c.4101T>G (p.Pro1367=)
c.4104T>G (p.Pro1368=)
c.4020T>G (p.Pro1340=)
c.2553T>G (p.Pro851=)
c.3738T>G (p.Pro1246=)
c.3324T>G (p.Pro1108=)
c.3930T>G (p.Pro1310=)
c.4284T>G (p.Pro1428=)
2g.25742233A>GCA425354323ASXL2c.4101T>C (p.Pro1367=)
c.4104T>C (p.Pro1368=)
c.4020T>C (p.Pro1340=)
c.2553T>C (p.Pro851=)
c.3738T>C (p.Pro1246=)
c.3324T>C (p.Pro1108=)
c.3930T>C (p.Pro1310=)
c.4284T>C (p.Pro1428=)
2g.25742233A>TCA425354322ASXL2c.4101T>A (p.Pro1367=)
c.4104T>A (p.Pro1368=)
c.4020T>A (p.Pro1340=)
c.2553T>A (p.Pro851=)
c.3738T>A (p.Pro1246=)
c.3324T>A (p.Pro1108=)
c.3930T>A (p.Pro1310=)
c.4284T>A (p.Pro1428=)
2g.25742234G>ACA346073980ASXL2c.4100C>T (p.Pro1367Leu)
c.4103C>T (p.Pro1368Leu)
c.4019C>T (p.Pro1340Leu)
c.2552C>T (p.Pro851Leu)
c.3737C>T (p.Pro1246Leu)
c.3323C>T (p.Pro1108Leu)
c.3929C>T (p.Pro1310Leu)
c.4283C>T (p.Pro1428Leu)
2g.25742234G>CCA346073981ASXL2c.4100C>G (p.Pro1367Arg)
c.4103C>G (p.Pro1368Arg)
c.4019C>G (p.Pro1340Arg)
c.2552C>G (p.Pro851Arg)
c.3737C>G (p.Pro1246Arg)
c.3323C>G (p.Pro1108Arg)
c.3929C>G (p.Pro1310Arg)
c.4283C>G (p.Pro1428Arg)
2g.25742234G>TCA346073984ASXL2c.4100C>A (p.Pro1367His)
c.4103C>A (p.Pro1368His)
c.4019C>A (p.Pro1340His)
c.2552C>A (p.Pro851His)
c.3737C>A (p.Pro1246His)
c.3323C>A (p.Pro1108His)
c.3929C>A (p.Pro1310His)
c.4283C>A (p.Pro1428His)
2g.25742235G>ACA346073987ASXL2c.4099C>T (p.Pro1367Ser)
c.4102C>T (p.Pro1368Ser)
c.4018C>T (p.Pro1340Ser)
c.2551C>T (p.Pro851Ser)
c.3736C>T (p.Pro1246Ser)
c.3322C>T (p.Pro1108Ser)
c.3928C>T (p.Pro1310Ser)
c.4282C>T (p.Pro1428Ser)
2g.25742235G>CCA1557362ASXL2c.4099C>G (p.Pro1367Ala)
c.4102C>G (p.Pro1368Ala)
c.4018C>G (p.Pro1340Ala)
c.2551C>G (p.Pro851Ala)
c.3736C>G (p.Pro1246Ala)
c.3322C>G (p.Pro1108Ala)
c.3928C>G (p.Pro1310Ala)
c.4282C>G (p.Pro1428Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742235G=CA1239490374ASXL2c.4099C= (p.Pro1367=)
c.4102C= (p.Pro1368=)
c.4018C= (p.Pro1340=)
c.2551C= (p.Pro851=)
c.3736C= (p.Pro1246=)
c.3322C= (p.Pro1108=)
c.3928C= (p.Pro1310=)
c.4282C= (p.Pro1428=)
2g.25742235G>TCA346073989ASXL2c.4099C>A (p.Pro1367Thr)
c.4102C>A (p.Pro1368Thr)
c.4018C>A (p.Pro1340Thr)
c.2551C>A (p.Pro851Thr)
c.3736C>A (p.Pro1246Thr)
c.3322C>A (p.Pro1108Thr)
c.3928C>A (p.Pro1310Thr)
c.4282C>A (p.Pro1428Thr)
2g.25742236G>ACA425354327ASXL2c.4098C>T (p.Ile1366=)
c.4101C>T (p.Ile1367=)
c.4017C>T (p.Ile1339=)
c.2550C>T (p.Ile850=)
c.3735C>T (p.Ile1245=)
c.3321C>T (p.Ile1107=)
c.3927C>T (p.Ile1309=)
c.4281C>T (p.Ile1427=)
2g.25742236G>CCA346073991ASXL2c.4098C>G (p.Ile1366Met)
c.4101C>G (p.Ile1367Met)
c.4017C>G (p.Ile1339Met)
c.2550C>G (p.Ile850Met)
c.3735C>G (p.Ile1245Met)
c.3321C>G (p.Ile1107Met)
c.3927C>G (p.Ile1309Met)
c.4281C>G (p.Ile1427Met)
2g.25742236G>TCA425354328ASXL2c.4098C>A (p.Ile1366=)
c.4101C>A (p.Ile1367=)
c.4017C>A (p.Ile1339=)
c.2550C>A (p.Ile850=)
c.3735C>A (p.Ile1245=)
c.3321C>A (p.Ile1107=)
c.3927C>A (p.Ile1309=)
c.4281C>A (p.Ile1427=)
2g.25742237A>CCA346073993ASXL2c.4097T>G (p.Ile1366Ser)
c.4100T>G (p.Ile1367Ser)
c.4016T>G (p.Ile1339Ser)
c.2549T>G (p.Ile850Ser)
c.3734T>G (p.Ile1245Ser)
c.3320T>G (p.Ile1107Ser)
c.3926T>G (p.Ile1309Ser)
c.4280T>G (p.Ile1427Ser)
2g.25742237A>GCA346073996ASXL2c.4097T>C (p.Ile1366Thr)
c.4100T>C (p.Ile1367Thr)
c.4016T>C (p.Ile1339Thr)
c.2549T>C (p.Ile850Thr)
c.3734T>C (p.Ile1245Thr)
c.3320T>C (p.Ile1107Thr)
c.3926T>C (p.Ile1309Thr)
c.4280T>C (p.Ile1427Thr)
2g.25742237A>TCA346073998ASXL2c.4097T>A (p.Ile1366Asn)
c.4100T>A (p.Ile1367Asn)
c.4016T>A (p.Ile1339Asn)
c.2549T>A (p.Ile850Asn)
c.3734T>A (p.Ile1245Asn)
c.3320T>A (p.Ile1107Asn)
c.3926T>A (p.Ile1309Asn)
c.4280T>A (p.Ile1427Asn)
2g.25742238T>ACA346074000ASXL2c.4096A>T (p.Ile1366Phe)
c.4099A>T (p.Ile1367Phe)
c.4015A>T (p.Ile1339Phe)
c.2548A>T (p.Ile850Phe)
c.3733A>T (p.Ile1245Phe)
c.3319A>T (p.Ile1107Phe)
c.3925A>T (p.Ile1309Phe)
c.4279A>T (p.Ile1427Phe)
2g.25742238T>CCA346074004ASXL2c.4096A>G (p.Ile1366Val)
c.4099A>G (p.Ile1367Val)
c.4015A>G (p.Ile1339Val)
c.2548A>G (p.Ile850Val)
c.3733A>G (p.Ile1245Val)
c.3319A>G (p.Ile1107Val)
c.3925A>G (p.Ile1309Val)
c.4279A>G (p.Ile1427Val)
dbSNP gnomAD v3 gnomAD v4
2g.25742238T>GCA346074002ASXL2c.4096A>C (p.Ile1366Leu)
c.4099A>C (p.Ile1367Leu)
c.4015A>C (p.Ile1339Leu)
c.2548A>C (p.Ile850Leu)
c.3733A>C (p.Ile1245Leu)
c.3319A>C (p.Ile1107Leu)
c.3925A>C (p.Ile1309Leu)
c.4279A>C (p.Ile1427Leu)
2g.25742238T=CA1239490375ASXL2c.4096A= (p.Ile1366=)
c.4099A= (p.Ile1367=)
c.4015A= (p.Ile1339=)
c.2548A= (p.Ile850=)
c.3733A= (p.Ile1245=)
c.3319A= (p.Ile1107=)
c.3925A= (p.Ile1309=)
c.4279A= (p.Ile1427=)
2g.25742239G>ACA425354332ASXL2c.4095C>T (p.Thr1365=)
c.4098C>T (p.Thr1366=)
c.4014C>T (p.Thr1338=)
c.2547C>T (p.Thr849=)
c.3732C>T (p.Thr1244=)
c.3318C>T (p.Thr1106=)
c.3924C>T (p.Thr1308=)
c.4278C>T (p.Thr1426=)
2g.25742239G>CCA425354333ASXL2c.4095C>G (p.Thr1365=)
c.4098C>G (p.Thr1366=)
c.4014C>G (p.Thr1338=)
c.2547C>G (p.Thr849=)
c.3732C>G (p.Thr1244=)
c.3318C>G (p.Thr1106=)
c.3924C>G (p.Thr1308=)
c.4278C>G (p.Thr1426=)
2g.25742239G>TCA425354334ASXL2c.4095C>A (p.Thr1365=)
c.4098C>A (p.Thr1366=)
c.4014C>A (p.Thr1338=)
c.2547C>A (p.Thr849=)
c.3732C>A (p.Thr1244=)
c.3318C>A (p.Thr1106=)
c.3924C>A (p.Thr1308=)
c.4278C>A (p.Thr1426=)
2g.25742240G>ACA346074006ASXL2c.4094C>T (p.Thr1365Ile)
c.4097C>T (p.Thr1366Ile)
c.4013C>T (p.Thr1338Ile)
c.2546C>T (p.Thr849Ile)
c.3731C>T (p.Thr1244Ile)
c.3317C>T (p.Thr1106Ile)
c.3923C>T (p.Thr1308Ile)
c.4277C>T (p.Thr1426Ile)
COSMIC COSMIC
2g.25742240G>CCA346074011ASXL2c.4094C>G (p.Thr1365Ser)
c.4097C>G (p.Thr1366Ser)
c.4013C>G (p.Thr1338Ser)
c.2546C>G (p.Thr849Ser)
c.3731C>G (p.Thr1244Ser)
c.3317C>G (p.Thr1106Ser)
c.3923C>G (p.Thr1308Ser)
c.4277C>G (p.Thr1426Ser)
2g.25742240G>TCA346074009ASXL2c.4094C>A (p.Thr1365Asn)
c.4097C>A (p.Thr1366Asn)
c.4013C>A (p.Thr1338Asn)
c.2546C>A (p.Thr849Asn)
c.3731C>A (p.Thr1244Asn)
c.3317C>A (p.Thr1106Asn)
c.3923C>A (p.Thr1308Asn)
c.4277C>A (p.Thr1426Asn)
2g.25742241T>ACA346074013ASXL2c.4093A>T (p.Thr1365Ser)
c.4096A>T (p.Thr1366Ser)
c.4012A>T (p.Thr1338Ser)
c.2545A>T (p.Thr849Ser)
c.3730A>T (p.Thr1244Ser)
c.3316A>T (p.Thr1106Ser)
c.3922A>T (p.Thr1308Ser)
c.4276A>T (p.Thr1426Ser)
2g.25742241T>CCA346074018ASXL2c.4093A>G (p.Thr1365Ala)
c.4096A>G (p.Thr1366Ala)
c.4012A>G (p.Thr1338Ala)
c.2545A>G (p.Thr849Ala)
c.3730A>G (p.Thr1244Ala)
c.3316A>G (p.Thr1106Ala)
c.3922A>G (p.Thr1308Ala)
c.4276A>G (p.Thr1426Ala)
gnomAD v4
2g.25742241T>GCA346074015ASXL2c.4093A>C (p.Thr1365Pro)
c.4096A>C (p.Thr1366Pro)
c.4012A>C (p.Thr1338Pro)
c.2545A>C (p.Thr849Pro)
c.3730A>C (p.Thr1244Pro)
c.3316A>C (p.Thr1106Pro)
c.3922A>C (p.Thr1308Pro)
c.4276A>C (p.Thr1426Pro)
2g.25742242A>CCA425354338ASXL2c.4092T>G (p.Thr1364=)
c.4095T>G (p.Thr1365=)
c.4011T>G (p.Thr1337=)
c.2544T>G (p.Thr848=)
c.3729T>G (p.Thr1243=)
c.3315T>G (p.Thr1105=)
c.3921T>G (p.Thr1307=)
c.4275T>G (p.Thr1425=)
2g.25742242A>GCA425354339ASXL2c.4092T>C (p.Thr1364=)
c.4095T>C (p.Thr1365=)
c.4011T>C (p.Thr1337=)
c.2544T>C (p.Thr848=)
c.3729T>C (p.Thr1243=)
c.3315T>C (p.Thr1105=)
c.3921T>C (p.Thr1307=)
c.4275T>C (p.Thr1425=)
2g.25742242A>TCA425354340ASXL2c.4092T>A (p.Thr1364=)
c.4095T>A (p.Thr1365=)
c.4011T>A (p.Thr1337=)
c.2544T>A (p.Thr848=)
c.3729T>A (p.Thr1243=)
c.3315T>A (p.Thr1105=)
c.3921T>A (p.Thr1307=)
c.4275T>A (p.Thr1425=)
2g.25742243G>ACA346074020ASXL2c.4091C>T (p.Thr1364Ile)
c.4094C>T (p.Thr1365Ile)
c.4010C>T (p.Thr1337Ile)
c.2543C>T (p.Thr848Ile)
c.3728C>T (p.Thr1243Ile)
c.3314C>T (p.Thr1105Ile)
c.3920C>T (p.Thr1307Ile)
c.4274C>T (p.Thr1425Ile)
dbSNP
2g.25742243G>CCA346074022ASXL2c.4091C>G (p.Thr1364Ser)
c.4094C>G (p.Thr1365Ser)
c.4010C>G (p.Thr1337Ser)
c.2543C>G (p.Thr848Ser)
c.3728C>G (p.Thr1243Ser)
c.3314C>G (p.Thr1105Ser)
c.3920C>G (p.Thr1307Ser)
c.4274C>G (p.Thr1425Ser)
2g.25742243G=CA1239490376ASXL2c.4091C= (p.Thr1364=)
c.4094C= (p.Thr1365=)
c.4010C= (p.Thr1337=)
c.2543C= (p.Thr848=)
c.3728C= (p.Thr1243=)
c.3314C= (p.Thr1105=)
c.3920C= (p.Thr1307=)
c.4274C= (p.Thr1425=)
2g.25742243G>TCA346074024ASXL2c.4091C>A (p.Thr1364Asn)
c.4094C>A (p.Thr1365Asn)
c.4010C>A (p.Thr1337Asn)
c.2543C>A (p.Thr848Asn)
c.3728C>A (p.Thr1243Asn)
c.3314C>A (p.Thr1105Asn)
c.3920C>A (p.Thr1307Asn)
c.4274C>A (p.Thr1425Asn)
2g.25742244T>ACA346074027ASXL2c.4090A>T (p.Thr1364Ser)
c.4093A>T (p.Thr1365Ser)
c.4009A>T (p.Thr1337Ser)
c.2542A>T (p.Thr848Ser)
c.3727A>T (p.Thr1243Ser)
c.3313A>T (p.Thr1105Ser)
c.3919A>T (p.Thr1307Ser)
c.4273A>T (p.Thr1425Ser)
2g.25742244T>CCA346074029ASXL2c.4090A>G (p.Thr1364Ala)
c.4093A>G (p.Thr1365Ala)
c.4009A>G (p.Thr1337Ala)
c.2542A>G (p.Thr848Ala)
c.3727A>G (p.Thr1243Ala)
c.3313A>G (p.Thr1105Ala)
c.3919A>G (p.Thr1307Ala)
c.4273A>G (p.Thr1425Ala)
gnomAD v4
2g.25742244T>GCA346074030ASXL2c.4090A>C (p.Thr1364Pro)
c.4093A>C (p.Thr1365Pro)
c.4009A>C (p.Thr1337Pro)
c.2542A>C (p.Thr848Pro)
c.3727A>C (p.Thr1243Pro)
c.3313A>C (p.Thr1105Pro)
c.3919A>C (p.Thr1307Pro)
c.4273A>C (p.Thr1425Pro)
2g.25742244_25742247dupCA2658189294ASXL2c.4087_4090dup (p.Thr1364SerfsTer7)
c.4090_4093dup (p.Thr1365SerfsTer7)
c.4006_4009dup (p.Thr1337SerfsTer7)
c.2539_2542dup (p.Thr848SerfsTer7)
c.3724_3727dup (p.Thr1243SerfsTer7)
c.3310_3313dup (p.Thr1105SerfsTer7)
c.3916_3919dup (p.Thr1307SerfsTer7)
c.4270_4273dup (p.Thr1425SerfsTer7)
gnomAD v4
2g.25742245G>ACA425354345ASXL2c.4089C>T (p.Val1363=)
c.4092C>T (p.Val1364=)
c.4008C>T (p.Val1336=)
c.2541C>T (p.Val847=)
c.3726C>T (p.Val1242=)
c.3312C>T (p.Val1104=)
c.3918C>T (p.Val1306=)
c.4272C>T (p.Val1424=)
gnomAD v4
2g.25742245G>CCA425354346ASXL2c.4089C>G (p.Val1363=)
c.4092C>G (p.Val1364=)
c.4008C>G (p.Val1336=)
c.2541C>G (p.Val847=)
c.3726C>G (p.Val1242=)
c.3312C>G (p.Val1104=)
c.3918C>G (p.Val1306=)
c.4272C>G (p.Val1424=)
2g.25742245G>TCA425354347ASXL2c.4089C>A (p.Val1363=)
c.4092C>A (p.Val1364=)
c.4008C>A (p.Val1336=)
c.2541C>A (p.Val847=)
c.3726C>A (p.Val1242=)
c.3312C>A (p.Val1104=)
c.3918C>A (p.Val1306=)
c.4272C>A (p.Val1424=)
2g.25742246A>CCA346074031ASXL2c.4088T>G (p.Val1363Gly)
c.4091T>G (p.Val1364Gly)
c.4007T>G (p.Val1336Gly)
c.2540T>G (p.Val847Gly)
c.3725T>G (p.Val1242Gly)
c.3311T>G (p.Val1104Gly)
c.3917T>G (p.Val1306Gly)
c.4271T>G (p.Val1424Gly)
2g.25742246A>GCA346074032ASXL2c.4088T>C (p.Val1363Ala)
c.4091T>C (p.Val1364Ala)
c.4007T>C (p.Val1336Ala)
c.2540T>C (p.Val847Ala)
c.3725T>C (p.Val1242Ala)
c.3311T>C (p.Val1104Ala)
c.3917T>C (p.Val1306Ala)
c.4271T>C (p.Val1424Ala)
2g.25742246A>TCA346074034ASXL2c.4088T>A (p.Val1363Asp)
c.4091T>A (p.Val1364Asp)
c.4007T>A (p.Val1336Asp)
c.2540T>A (p.Val847Asp)
c.3725T>A (p.Val1242Asp)
c.3311T>A (p.Val1104Asp)
c.3917T>A (p.Val1306Asp)
c.4271T>A (p.Val1424Asp)
2g.25742247C>ACA346074037ASXL2c.4087G>T (p.Val1363Phe)
c.4090G>T (p.Val1364Phe)
c.4006G>T (p.Val1336Phe)
c.2539G>T (p.Val847Phe)
c.3724G>T (p.Val1242Phe)
c.3310G>T (p.Val1104Phe)
c.3916G>T (p.Val1306Phe)
c.4270G>T (p.Val1424Phe)
2g.25742247C>GCA346074039ASXL2c.4087G>C (p.Val1363Leu)
c.4090G>C (p.Val1364Leu)
c.4006G>C (p.Val1336Leu)
c.2539G>C (p.Val847Leu)
c.3724G>C (p.Val1242Leu)
c.3310G>C (p.Val1104Leu)
c.3916G>C (p.Val1306Leu)
c.4270G>C (p.Val1424Leu)
2g.25742247C>TCA346074042ASXL2c.4087G>A (p.Val1363Ile)
c.4090G>A (p.Val1364Ile)
c.4006G>A (p.Val1336Ile)
c.2539G>A (p.Val847Ile)
c.3724G>A (p.Val1242Ile)
c.3310G>A (p.Val1104Ile)
c.3916G>A (p.Val1306Ile)
c.4270G>A (p.Val1424Ile)
gnomAD v4
2g.25742248A=CA1239490377ASXL2c.4086T= (p.Thr1362=)
c.4089T= (p.Thr1363=)
c.4005T= (p.Thr1335=)
c.2538T= (p.Thr846=)
c.3723T= (p.Thr1241=)
c.3309T= (p.Thr1103=)
c.3915T= (p.Thr1305=)
c.4269T= (p.Thr1423=)
2g.25742248A>CCA425354351ASXL2c.4086T>G (p.Thr1362=)
c.4089T>G (p.Thr1363=)
c.4005T>G (p.Thr1335=)
c.2538T>G (p.Thr846=)
c.3723T>G (p.Thr1241=)
c.3309T>G (p.Thr1103=)
c.3915T>G (p.Thr1305=)
c.4269T>G (p.Thr1423=)
gnomAD v4
2g.25742248A>GCA1557363ASXL2c.4086T>C (p.Thr1362=)
c.4089T>C (p.Thr1363=)
c.4005T>C (p.Thr1335=)
c.2538T>C (p.Thr846=)
c.3723T>C (p.Thr1241=)
c.3309T>C (p.Thr1103=)
c.3915T>C (p.Thr1305=)
c.4269T>C (p.Thr1423=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742248A>TCA425354352ASXL2c.4086T>A (p.Thr1362=)
c.4089T>A (p.Thr1363=)
c.4005T>A (p.Thr1335=)
c.2538T>A (p.Thr846=)
c.3723T>A (p.Thr1241=)
c.3309T>A (p.Thr1103=)
c.3915T>A (p.Thr1305=)
c.4269T>A (p.Thr1423=)
2g.25742249G>ACA346074047ASXL2c.4085C>T (p.Thr1362Ile)
c.4088C>T (p.Thr1363Ile)
c.4004C>T (p.Thr1335Ile)
c.2537C>T (p.Thr846Ile)
c.3722C>T (p.Thr1241Ile)
c.3308C>T (p.Thr1103Ile)
c.3914C>T (p.Thr1305Ile)
c.4268C>T (p.Thr1423Ile)
2g.25742249G>CCA346074056ASXL2c.4085C>G (p.Thr1362Ser)
c.4088C>G (p.Thr1363Ser)
c.4004C>G (p.Thr1335Ser)
c.2537C>G (p.Thr846Ser)
c.3722C>G (p.Thr1241Ser)
c.3308C>G (p.Thr1103Ser)
c.3914C>G (p.Thr1305Ser)
c.4268C>G (p.Thr1423Ser)
2g.25742249G>TCA346074051ASXL2c.4085C>A (p.Thr1362Asn)
c.4088C>A (p.Thr1363Asn)
c.4004C>A (p.Thr1335Asn)
c.2537C>A (p.Thr846Asn)
c.3722C>A (p.Thr1241Asn)
c.3308C>A (p.Thr1103Asn)
c.3914C>A (p.Thr1305Asn)
c.4268C>A (p.Thr1423Asn)
2g.25742250T>ACA346074059ASXL2c.4084A>T (p.Thr1362Ser)
c.4087A>T (p.Thr1363Ser)
c.4003A>T (p.Thr1335Ser)
c.2536A>T (p.Thr846Ser)
c.3721A>T (p.Thr1241Ser)
c.3307A>T (p.Thr1103Ser)
c.3913A>T (p.Thr1305Ser)
c.4267A>T (p.Thr1423Ser)
2g.25742250T>CCA1557364ASXL2c.4084A>G (p.Thr1362Ala)
c.4087A>G (p.Thr1363Ala)
c.4003A>G (p.Thr1335Ala)
c.2536A>G (p.Thr846Ala)
c.3721A>G (p.Thr1241Ala)
c.3307A>G (p.Thr1103Ala)
c.3913A>G (p.Thr1305Ala)
c.4267A>G (p.Thr1423Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742250T>GCA346074064ASXL2c.4084A>C (p.Thr1362Pro)
c.4087A>C (p.Thr1363Pro)
c.4003A>C (p.Thr1335Pro)
c.2536A>C (p.Thr846Pro)
c.3721A>C (p.Thr1241Pro)
c.3307A>C (p.Thr1103Pro)
c.3913A>C (p.Thr1305Pro)
c.4267A>C (p.Thr1423Pro)
2g.25742250T=CA1239490378ASXL2c.4084A= (p.Thr1362=)
c.4087A= (p.Thr1363=)
c.4003A= (p.Thr1335=)
c.2536A= (p.Thr846=)
c.3721A= (p.Thr1241=)
c.3307A= (p.Thr1103=)
c.3913A= (p.Thr1305=)
c.4267A= (p.Thr1423=)
2g.25742251C>ACA425354355ASXL2c.4083G>T (p.Val1361=)
c.4086G>T (p.Val1362=)
c.4002G>T (p.Val1334=)
c.2535G>T (p.Val845=)
c.3720G>T (p.Val1240=)
c.3306G>T (p.Val1102=)
c.3912G>T (p.Val1304=)
c.4266G>T (p.Val1422=)
gnomAD v4
2g.25742251C>GCA425354356ASXL2c.4083G>C (p.Val1361=)
c.4086G>C (p.Val1362=)
c.4002G>C (p.Val1334=)
c.2535G>C (p.Val845=)
c.3720G>C (p.Val1240=)
c.3306G>C (p.Val1102=)
c.3912G>C (p.Val1304=)
c.4266G>C (p.Val1422=)
2g.25742251C>TCA425354357ASXL2c.4083G>A (p.Val1361=)
c.4086G>A (p.Val1362=)
c.4002G>A (p.Val1334=)
c.2535G>A (p.Val845=)
c.3720G>A (p.Val1240=)
c.3306G>A (p.Val1102=)
c.3912G>A (p.Val1304=)
c.4266G>A (p.Val1422=)
2g.25742252A>CCA346074069ASXL2c.4082T>G (p.Val1361Gly)
c.4085T>G (p.Val1362Gly)
c.4001T>G (p.Val1334Gly)
c.2534T>G (p.Val845Gly)
c.3719T>G (p.Val1240Gly)
c.3305T>G (p.Val1102Gly)
c.3911T>G (p.Val1304Gly)
c.4265T>G (p.Val1422Gly)
2g.25742252A>GCA346074071ASXL2c.4082T>C (p.Val1361Ala)
c.4085T>C (p.Val1362Ala)
c.4001T>C (p.Val1334Ala)
c.2534T>C (p.Val845Ala)
c.3719T>C (p.Val1240Ala)
c.3305T>C (p.Val1102Ala)
c.3911T>C (p.Val1304Ala)
c.4265T>C (p.Val1422Ala)
2g.25742252A>TCA346074073ASXL2c.4082T>A (p.Val1361Glu)
c.4085T>A (p.Val1362Glu)
c.4001T>A (p.Val1334Glu)
c.2534T>A (p.Val845Glu)
c.3719T>A (p.Val1240Glu)
c.3305T>A (p.Val1102Glu)
c.3911T>A (p.Val1304Glu)
c.4265T>A (p.Val1422Glu)
2g.25742253C>ACA346074084ASXL2c.4081G>T (p.Val1361Leu)
c.4084G>T (p.Val1362Leu)
c.4000G>T (p.Val1334Leu)
c.2533G>T (p.Val845Leu)
c.3718G>T (p.Val1240Leu)
c.3304G>T (p.Val1102Leu)
c.3910G>T (p.Val1304Leu)
c.4264G>T (p.Val1422Leu)
2g.25742253C>GCA346074085ASXL2c.4081G>C (p.Val1361Leu)
c.4084G>C (p.Val1362Leu)
c.4000G>C (p.Val1334Leu)
c.2533G>C (p.Val845Leu)
c.3718G>C (p.Val1240Leu)
c.3304G>C (p.Val1102Leu)
c.3910G>C (p.Val1304Leu)
c.4264G>C (p.Val1422Leu)
2g.25742253C>TCA346074087ASXL2c.4081G>A (p.Val1361Met)
c.4084G>A (p.Val1362Met)
c.4000G>A (p.Val1334Met)
c.2533G>A (p.Val845Met)
c.3718G>A (p.Val1240Met)
c.3304G>A (p.Val1102Met)
c.3910G>A (p.Val1304Met)
c.4264G>A (p.Val1422Met)
2g.25742254T>ACA425354361ASXL2c.4080A>T (p.Ser1360=)
c.4083A>T (p.Ser1361=)
c.3999A>T (p.Ser1333=)
c.2532A>T (p.Ser844=)
c.3717A>T (p.Ser1239=)
c.3303A>T (p.Ser1101=)
c.3909A>T (p.Ser1303=)
c.4263A>T (p.Ser1421=)
2g.25742254T>CCA425354364ASXL2c.4080A>G (p.Ser1360=)
c.4083A>G (p.Ser1361=)
c.3999A>G (p.Ser1333=)
c.2532A>G (p.Ser844=)
c.3717A>G (p.Ser1239=)
c.3303A>G (p.Ser1101=)
c.3909A>G (p.Ser1303=)
c.4263A>G (p.Ser1421=)
2g.25742254T>GCA425354363ASXL2c.4080A>C (p.Ser1360=)
c.4083A>C (p.Ser1361=)
c.3999A>C (p.Ser1333=)
c.2532A>C (p.Ser844=)
c.3717A>C (p.Ser1239=)
c.3303A>C (p.Ser1101=)
c.3909A>C (p.Ser1303=)
c.4263A>C (p.Ser1421=)
2g.25742255G>ACA346074097ASXL2c.4079C>T (p.Ser1360Leu)
c.4082C>T (p.Ser1361Leu)
c.3998C>T (p.Ser1333Leu)
c.2531C>T (p.Ser844Leu)
c.3716C>T (p.Ser1239Leu)
c.3302C>T (p.Ser1101Leu)
c.3908C>T (p.Ser1303Leu)
c.4262C>T (p.Ser1421Leu)
gnomAD v4 COSMIC COSMIC
2g.25742255G>CCA346074094ASXL2c.4079C>G (p.Ser1360Ter)
c.4082C>G (p.Ser1361Ter)
c.3998C>G (p.Ser1333Ter)
c.2531C>G (p.Ser844Ter)
c.3716C>G (p.Ser1239Ter)
c.3302C>G (p.Ser1101Ter)
c.3908C>G (p.Ser1303Ter)
c.4262C>G (p.Ser1421Ter)
2g.25742255G>TCA346074092ASXL2c.4079C>A (p.Ser1360Ter)
c.4082C>A (p.Ser1361Ter)
c.3998C>A (p.Ser1333Ter)
c.2531C>A (p.Ser844Ter)
c.3716C>A (p.Ser1239Ter)
c.3302C>A (p.Ser1101Ter)
c.3908C>A (p.Ser1303Ter)
c.4262C>A (p.Ser1421Ter)
2g.25742256A>CCA346074101ASXL2c.4078T>G (p.Ser1360Ala)
c.4081T>G (p.Ser1361Ala)
c.3997T>G (p.Ser1333Ala)
c.2530T>G (p.Ser844Ala)
c.3715T>G (p.Ser1239Ala)
c.3301T>G (p.Ser1101Ala)
c.3907T>G (p.Ser1303Ala)
c.4261T>G (p.Ser1421Ala)
2g.25742256A>GCA346074104ASXL2c.4078T>C (p.Ser1360Pro)
c.4081T>C (p.Ser1361Pro)
c.3997T>C (p.Ser1333Pro)
c.2530T>C (p.Ser844Pro)
c.3715T>C (p.Ser1239Pro)
c.3301T>C (p.Ser1101Pro)
c.3907T>C (p.Ser1303Pro)
c.4261T>C (p.Ser1421Pro)
2g.25742256A>TCA346074109ASXL2c.4078T>A (p.Ser1360Thr)
c.4081T>A (p.Ser1361Thr)
c.3997T>A (p.Ser1333Thr)
c.2530T>A (p.Ser844Thr)
c.3715T>A (p.Ser1239Thr)
c.3301T>A (p.Ser1101Thr)
c.3907T>A (p.Ser1303Thr)
c.4261T>A (p.Ser1421Thr)
2g.25742257A>CCA346074112ASXL2c.4077T>G (p.Phe1359Leu)
c.4080T>G (p.Phe1360Leu)
c.3996T>G (p.Phe1332Leu)
c.2529T>G (p.Phe843Leu)
c.3714T>G (p.Phe1238Leu)
c.3300T>G (p.Phe1100Leu)
c.3906T>G (p.Phe1302Leu)
c.4260T>G (p.Phe1420Leu)
2g.25742257A>GCA425354367ASXL2c.4077T>C (p.Phe1359=)
c.4080T>C (p.Phe1360=)
c.3996T>C (p.Phe1332=)
c.2529T>C (p.Phe843=)
c.3714T>C (p.Phe1238=)
c.3300T>C (p.Phe1100=)
c.3906T>C (p.Phe1302=)
c.4260T>C (p.Phe1420=)
2g.25742257A>TCA346074115ASXL2c.4077T>A (p.Phe1359Leu)
c.4080T>A (p.Phe1360Leu)
c.3996T>A (p.Phe1332Leu)
c.2529T>A (p.Phe843Leu)
c.3714T>A (p.Phe1238Leu)
c.3300T>A (p.Phe1100Leu)
c.3906T>A (p.Phe1302Leu)
c.4260T>A (p.Phe1420Leu)
2g.25742258A>CCA346074119ASXL2c.4076T>G (p.Phe1359Cys)
c.4079T>G (p.Phe1360Cys)
c.3995T>G (p.Phe1332Cys)
c.2528T>G (p.Phe843Cys)
c.3713T>G (p.Phe1238Cys)
c.3299T>G (p.Phe1100Cys)
c.3905T>G (p.Phe1302Cys)
c.4259T>G (p.Phe1420Cys)
2g.25742258A>GCA346074121ASXL2c.4076T>C (p.Phe1359Ser)
c.4079T>C (p.Phe1360Ser)
c.3995T>C (p.Phe1332Ser)
c.2528T>C (p.Phe843Ser)
c.3713T>C (p.Phe1238Ser)
c.3299T>C (p.Phe1100Ser)
c.3905T>C (p.Phe1302Ser)
c.4259T>C (p.Phe1420Ser)
2g.25742258A>TCA346074123ASXL2c.4076T>A (p.Phe1359Tyr)
c.4079T>A (p.Phe1360Tyr)
c.3995T>A (p.Phe1332Tyr)
c.2528T>A (p.Phe843Tyr)
c.3713T>A (p.Phe1238Tyr)
c.3299T>A (p.Phe1100Tyr)
c.3905T>A (p.Phe1302Tyr)
c.4259T>A (p.Phe1420Tyr)
2g.25742259A>CCA346074129ASXL2c.4075T>G (p.Phe1359Val)
c.4078T>G (p.Phe1360Val)
c.3994T>G (p.Phe1332Val)
c.2527T>G (p.Phe843Val)
c.3712T>G (p.Phe1238Val)
c.3298T>G (p.Phe1100Val)
c.3904T>G (p.Phe1302Val)
c.4258T>G (p.Phe1420Val)
2g.25742259A>GCA346074131ASXL2c.4075T>C (p.Phe1359Leu)
c.4078T>C (p.Phe1360Leu)
c.3994T>C (p.Phe1332Leu)
c.2527T>C (p.Phe843Leu)
c.3712T>C (p.Phe1238Leu)
c.3298T>C (p.Phe1100Leu)
c.3904T>C (p.Phe1302Leu)
c.4258T>C (p.Phe1420Leu)
2g.25742259A>TCA346074133ASXL2c.4075T>A (p.Phe1359Ile)
c.4078T>A (p.Phe1360Ile)
c.3994T>A (p.Phe1332Ile)
c.2527T>A (p.Phe843Ile)
c.3712T>A (p.Phe1238Ile)
c.3298T>A (p.Phe1100Ile)
c.3904T>A (p.Phe1302Ile)
c.4258T>A (p.Phe1420Ile)
2g.25742260T>ACA425354374ASXL2c.4074A>T (p.Ser1358=)
c.4077A>T (p.Ser1359=)
c.3993A>T (p.Ser1331=)
c.2526A>T (p.Ser842=)
c.3711A>T (p.Ser1237=)
c.3297A>T (p.Ser1099=)
c.3903A>T (p.Ser1301=)
c.4257A>T (p.Ser1419=)
2g.25742260T>CCA425354375ASXL2c.4074A>G (p.Ser1358=)
c.4077A>G (p.Ser1359=)
c.3993A>G (p.Ser1331=)
c.2526A>G (p.Ser842=)
c.3711A>G (p.Ser1237=)
c.3297A>G (p.Ser1099=)
c.3903A>G (p.Ser1301=)
c.4257A>G (p.Ser1419=)
2g.25742260T>GCA425354376ASXL2c.4074A>C (p.Ser1358=)
c.4077A>C (p.Ser1359=)
c.3993A>C (p.Ser1331=)
c.2526A>C (p.Ser842=)
c.3711A>C (p.Ser1237=)
c.3297A>C (p.Ser1099=)
c.3903A>C (p.Ser1301=)
c.4257A>C (p.Ser1419=)
2g.25742261G>ACA346074143ASXL2c.4073C>T (p.Ser1358Leu)
c.4076C>T (p.Ser1359Leu)
c.3992C>T (p.Ser1331Leu)
c.2525C>T (p.Ser842Leu)
c.3710C>T (p.Ser1237Leu)
c.3296C>T (p.Ser1099Leu)
c.3902C>T (p.Ser1301Leu)
c.4256C>T (p.Ser1419Leu)
2g.25742261G>CCA346074141ASXL2c.4073C>G (p.Ser1358Ter)
c.4076C>G (p.Ser1359Ter)
c.3992C>G (p.Ser1331Ter)
c.2525C>G (p.Ser842Ter)
c.3710C>G (p.Ser1237Ter)
c.3296C>G (p.Ser1099Ter)
c.3902C>G (p.Ser1301Ter)
c.4256C>G (p.Ser1419Ter)
2g.25742261G>TCA346074138ASXL2c.4073C>A (p.Ser1358Ter)
c.4076C>A (p.Ser1359Ter)
c.3992C>A (p.Ser1331Ter)
c.2525C>A (p.Ser842Ter)
c.3710C>A (p.Ser1237Ter)
c.3296C>A (p.Ser1099Ter)
c.3902C>A (p.Ser1301Ter)
c.4256C>A (p.Ser1419Ter)
2g.25742262A>CCA346074147ASXL2c.4072T>G (p.Ser1358Ala)
c.4075T>G (p.Ser1359Ala)
c.3991T>G (p.Ser1331Ala)
c.2524T>G (p.Ser842Ala)
c.3709T>G (p.Ser1237Ala)
c.3295T>G (p.Ser1099Ala)
c.3901T>G (p.Ser1301Ala)
c.4255T>G (p.Ser1419Ala)
2g.25742262A>GCA346074151ASXL2c.4072T>C (p.Ser1358Pro)
c.4075T>C (p.Ser1359Pro)
c.3991T>C (p.Ser1331Pro)
c.2524T>C (p.Ser842Pro)
c.3709T>C (p.Ser1237Pro)
c.3295T>C (p.Ser1099Pro)
c.3901T>C (p.Ser1301Pro)
c.4255T>C (p.Ser1419Pro)
2g.25742262A>TCA346074154ASXL2c.4072T>A (p.Ser1358Thr)
c.4075T>A (p.Ser1359Thr)
c.3991T>A (p.Ser1331Thr)
c.2524T>A (p.Ser842Thr)
c.3709T>A (p.Ser1237Thr)
c.3295T>A (p.Ser1099Thr)
c.3901T>A (p.Ser1301Thr)
c.4255T>A (p.Ser1419Thr)
2g.25742263C>ACA346074157ASXL2c.4071G>T (p.Met1357Ile)
c.4074G>T (p.Met1358Ile)
c.3990G>T (p.Met1330Ile)
c.2523G>T (p.Met841Ile)
c.3708G>T (p.Met1236Ile)
c.3294G>T (p.Met1098Ile)
c.3900G>T (p.Met1300Ile)
c.4254G>T (p.Met1418Ile)
2g.25742263C>GCA346074162ASXL2c.4071G>C (p.Met1357Ile)
c.4074G>C (p.Met1358Ile)
c.3990G>C (p.Met1330Ile)
c.2523G>C (p.Met841Ile)
c.3708G>C (p.Met1236Ile)
c.3294G>C (p.Met1098Ile)
c.3900G>C (p.Met1300Ile)
c.4254G>C (p.Met1418Ile)
2g.25742263C>TCA346074165ASXL2c.4071G>A (p.Met1357Ile)
c.4074G>A (p.Met1358Ile)
c.3990G>A (p.Met1330Ile)
c.2523G>A (p.Met841Ile)
c.3708G>A (p.Met1236Ile)
c.3294G>A (p.Met1098Ile)
c.3900G>A (p.Met1300Ile)
c.4254G>A (p.Met1418Ile)
gnomAD v4
2g.25742264A>CCA346074170ASXL2c.4070T>G (p.Met1357Arg)
c.4073T>G (p.Met1358Arg)
c.3989T>G (p.Met1330Arg)
c.2522T>G (p.Met841Arg)
c.3707T>G (p.Met1236Arg)
c.3293T>G (p.Met1098Arg)
c.3899T>G (p.Met1300Arg)
c.4253T>G (p.Met1418Arg)
2g.25742264A>GCA346074172ASXL2c.4070T>C (p.Met1357Thr)
c.4073T>C (p.Met1358Thr)
c.3989T>C (p.Met1330Thr)
c.2522T>C (p.Met841Thr)
c.3707T>C (p.Met1236Thr)
c.3293T>C (p.Met1098Thr)
c.3899T>C (p.Met1300Thr)
c.4253T>C (p.Met1418Thr)
2g.25742264A>TCA346074175ASXL2c.4070T>A (p.Met1357Lys)
c.4073T>A (p.Met1358Lys)
c.3989T>A (p.Met1330Lys)
c.2522T>A (p.Met841Lys)
c.3707T>A (p.Met1236Lys)
c.3293T>A (p.Met1098Lys)
c.3899T>A (p.Met1300Lys)
c.4253T>A (p.Met1418Lys)
2g.25742265T>ACA346074180ASXL2c.4069A>T (p.Met1357Leu)
c.4072A>T (p.Met1358Leu)
c.3988A>T (p.Met1330Leu)
c.2521A>T (p.Met841Leu)
c.3706A>T (p.Met1236Leu)
c.3292A>T (p.Met1098Leu)
c.3898A>T (p.Met1300Leu)
c.4252A>T (p.Met1418Leu)
2g.25742265T>CCA346074184ASXL2c.4069A>G (p.Met1357Val)
c.4072A>G (p.Met1358Val)
c.3988A>G (p.Met1330Val)
c.2521A>G (p.Met841Val)
c.3706A>G (p.Met1236Val)
c.3292A>G (p.Met1098Val)
c.3898A>G (p.Met1300Val)
c.4252A>G (p.Met1418Val)
gnomAD v4
2g.25742265T>GCA346074187ASXL2c.4069A>C (p.Met1357Leu)
c.4072A>C (p.Met1358Leu)
c.3988A>C (p.Met1330Leu)
c.2521A>C (p.Met841Leu)
c.3706A>C (p.Met1236Leu)
c.3292A>C (p.Met1098Leu)
c.3898A>C (p.Met1300Leu)
c.4252A>C (p.Met1418Leu)
2g.25742266G>ACA425354389ASXL2c.4068C>T (p.Val1356=)
c.4071C>T (p.Val1357=)
c.3987C>T (p.Val1329=)
c.2520C>T (p.Val840=)
c.3705C>T (p.Val1235=)
c.3291C>T (p.Val1097=)
c.3897C>T (p.Val1299=)
c.4251C>T (p.Val1417=)
dbSNP gnomAD v2 gnomAD v4
2g.25742266G>CCA425354392ASXL2c.4068C>G (p.Val1356=)
c.4071C>G (p.Val1357=)
c.3987C>G (p.Val1329=)
c.2520C>G (p.Val840=)
c.3705C>G (p.Val1235=)
c.3291C>G (p.Val1097=)
c.3897C>G (p.Val1299=)
c.4251C>G (p.Val1417=)
gnomAD v4
2g.25742266G=CA1239490379ASXL2c.4068C= (p.Val1356=)
c.4071C= (p.Val1357=)
c.3987C= (p.Val1329=)
c.2520C= (p.Val840=)
c.3705C= (p.Val1235=)
c.3291C= (p.Val1097=)
c.3897C= (p.Val1299=)
c.4251C= (p.Val1417=)
2g.25742266G>TCA425354391ASXL2c.4068C>A (p.Val1356=)
c.4071C>A (p.Val1357=)
c.3987C>A (p.Val1329=)
c.2520C>A (p.Val840=)
c.3705C>A (p.Val1235=)
c.3291C>A (p.Val1097=)
c.3897C>A (p.Val1299=)
c.4251C>A (p.Val1417=)
2g.25742267A>CCA346074198ASXL2c.4067T>G (p.Val1356Gly)
c.4070T>G (p.Val1357Gly)
c.3986T>G (p.Val1329Gly)
c.2519T>G (p.Val840Gly)
c.3704T>G (p.Val1235Gly)
c.3290T>G (p.Val1097Gly)
c.3896T>G (p.Val1299Gly)
c.4250T>G (p.Val1417Gly)
2g.25742267A>GCA346074194ASXL2c.4067T>C (p.Val1356Ala)
c.4070T>C (p.Val1357Ala)
c.3986T>C (p.Val1329Ala)
c.2519T>C (p.Val840Ala)
c.3704T>C (p.Val1235Ala)
c.3290T>C (p.Val1097Ala)
c.3896T>C (p.Val1299Ala)
c.4250T>C (p.Val1417Ala)
2g.25742267A>TCA346074192ASXL2c.4067T>A (p.Val1356Asp)
c.4070T>A (p.Val1357Asp)
c.3986T>A (p.Val1329Asp)
c.2519T>A (p.Val840Asp)
c.3704T>A (p.Val1235Asp)
c.3290T>A (p.Val1097Asp)
c.3896T>A (p.Val1299Asp)
c.4250T>A (p.Val1417Asp)
2g.25742268C>ACA346074208ASXL2c.4066G>T (p.Val1356Phe)
c.4069G>T (p.Val1357Phe)
c.3985G>T (p.Val1329Phe)
c.2518G>T (p.Val840Phe)
c.3703G>T (p.Val1235Phe)
c.3289G>T (p.Val1097Phe)
c.3895G>T (p.Val1299Phe)
c.4249G>T (p.Val1417Phe)
2g.25742268C=CA1239490380ASXL2c.4066G= (p.Val1356=)
c.4069G= (p.Val1357=)
c.3985G= (p.Val1329=)
c.2518G= (p.Val840=)
c.3703G= (p.Val1235=)
c.3289G= (p.Val1097=)
c.3895G= (p.Val1299=)
c.4249G= (p.Val1417=)
2g.25742268C>GCA346074213ASXL2c.4066G>C (p.Val1356Leu)
c.4069G>C (p.Val1357Leu)
c.3985G>C (p.Val1329Leu)
c.2518G>C (p.Val840Leu)
c.3703G>C (p.Val1235Leu)
c.3289G>C (p.Val1097Leu)
c.3895G>C (p.Val1299Leu)
c.4249G>C (p.Val1417Leu)
2g.25742268C>TCA346074211ASXL2c.4066G>A (p.Val1356Ile)
c.4069G>A (p.Val1357Ile)
c.3985G>A (p.Val1329Ile)
c.2518G>A (p.Val840Ile)
c.3703G>A (p.Val1235Ile)
c.3289G>A (p.Val1097Ile)
c.3895G>A (p.Val1299Ile)
c.4249G>A (p.Val1417Ile)
dbSNP gnomAD v3 gnomAD v4
2g.25742269A=CA1239490381ASXL2c.4065T= (p.Asp1355=)
c.4068T= (p.Asp1356=)
c.3984T= (p.Asp1328=)
c.2517T= (p.Asp839=)
c.3702T= (p.Asp1234=)
c.3288T= (p.Asp1096=)
c.3894T= (p.Asp1298=)
c.4248T= (p.Asp1416=)
2g.25742269A>CCA346074216ASXL2c.4065T>G (p.Asp1355Glu)
c.4068T>G (p.Asp1356Glu)
c.3984T>G (p.Asp1328Glu)
c.2517T>G (p.Asp839Glu)
c.3702T>G (p.Asp1234Glu)
c.3288T>G (p.Asp1096Glu)
c.3894T>G (p.Asp1298Glu)
c.4248T>G (p.Asp1416Glu)
2g.25742269A>GCA43734199ASXL2c.4065T>C (p.Asp1355=)
c.4068T>C (p.Asp1356=)
c.3984T>C (p.Asp1328=)
c.2517T>C (p.Asp839=)
c.3702T>C (p.Asp1234=)
c.3288T>C (p.Asp1096=)
c.3894T>C (p.Asp1298=)
c.4248T>C (p.Asp1416=)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.25742269A>TCA346074219ASXL2c.4065T>A (p.Asp1355Glu)
c.4068T>A (p.Asp1356Glu)
c.3984T>A (p.Asp1328Glu)
c.2517T>A (p.Asp839Glu)
c.3702T>A (p.Asp1234Glu)
c.3288T>A (p.Asp1096Glu)
c.3894T>A (p.Asp1298Glu)
c.4248T>A (p.Asp1416Glu)
2g.25742270T>ACA346074226ASXL2c.4064A>T (p.Asp1355Val)
c.4067A>T (p.Asp1356Val)
c.3983A>T (p.Asp1328Val)
c.2516A>T (p.Asp839Val)
c.3701A>T (p.Asp1234Val)
c.3287A>T (p.Asp1096Val)
c.3893A>T (p.Asp1298Val)
c.4247A>T (p.Asp1416Val)
2g.25742270T>CCA1557365ASXL2c.4064A>G (p.Asp1355Gly)
c.4067A>G (p.Asp1356Gly)
c.3983A>G (p.Asp1328Gly)
c.2516A>G (p.Asp839Gly)
c.3701A>G (p.Asp1234Gly)
c.3287A>G (p.Asp1096Gly)
c.3893A>G (p.Asp1298Gly)
c.4247A>G (p.Asp1416Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742270T>GCA346074231ASXL2c.4064A>C (p.Asp1355Ala)
c.4067A>C (p.Asp1356Ala)
c.3983A>C (p.Asp1328Ala)
c.2516A>C (p.Asp839Ala)
c.3701A>C (p.Asp1234Ala)
c.3287A>C (p.Asp1096Ala)
c.3893A>C (p.Asp1298Ala)
c.4247A>C (p.Asp1416Ala)
2g.25742270T=CA1239490382ASXL2c.4064A= (p.Asp1355=)
c.4067A= (p.Asp1356=)
c.3983A= (p.Asp1328=)
c.2516A= (p.Asp839=)
c.3701A= (p.Asp1234=)
c.3287A= (p.Asp1096=)
c.3893A= (p.Asp1298=)
c.4247A= (p.Asp1416=)
2g.25742271C>ACA346074236ASXL2c.4063G>T (p.Asp1355Tyr)
c.4066G>T (p.Asp1356Tyr)
c.3982G>T (p.Asp1328Tyr)
c.2515G>T (p.Asp839Tyr)
c.3700G>T (p.Asp1234Tyr)
c.3286G>T (p.Asp1096Tyr)
c.3892G>T (p.Asp1298Tyr)
c.4246G>T (p.Asp1416Tyr)
2g.25742271C>GCA346074238ASXL2c.4063G>C (p.Asp1355His)
c.4066G>C (p.Asp1356His)
c.3982G>C (p.Asp1328His)
c.2515G>C (p.Asp839His)
c.3700G>C (p.Asp1234His)
c.3286G>C (p.Asp1096His)
c.3892G>C (p.Asp1298His)
c.4246G>C (p.Asp1416His)
2g.25742271C>TCA346074242ASXL2c.4063G>A (p.Asp1355Asn)
c.4066G>A (p.Asp1356Asn)
c.3982G>A (p.Asp1328Asn)
c.2515G>A (p.Asp839Asn)
c.3700G>A (p.Asp1234Asn)
c.3286G>A (p.Asp1096Asn)
c.3892G>A (p.Asp1298Asn)
c.4246G>A (p.Asp1416Asn)
2g.25742272A=CA1239490383ASXL2c.4062T= (p.Gly1354=)
c.4065T= (p.Gly1355=)
c.3981T= (p.Gly1327=)
c.2514T= (p.Gly838=)
c.3699T= (p.Gly1233=)
c.3285T= (p.Gly1095=)
c.3891T= (p.Gly1297=)
c.4245T= (p.Gly1415=)
2g.25742272A>CCA1557366ASXL2c.4062T>G (p.Gly1354=)
c.4065T>G (p.Gly1355=)
c.3981T>G (p.Gly1327=)
c.2514T>G (p.Gly838=)
c.3699T>G (p.Gly1233=)
c.3285T>G (p.Gly1095=)
c.3891T>G (p.Gly1297=)
c.4245T>G (p.Gly1415=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742272A>GCA425354408ASXL2c.4062T>C (p.Gly1354=)
c.4065T>C (p.Gly1355=)
c.3981T>C (p.Gly1327=)
c.2514T>C (p.Gly838=)
c.3699T>C (p.Gly1233=)
c.3285T>C (p.Gly1095=)
c.3891T>C (p.Gly1297=)
c.4245T>C (p.Gly1415=)
gnomAD v4
2g.25742272A>TCA425354409ASXL2c.4062T>A (p.Gly1354=)
c.4065T>A (p.Gly1355=)
c.3981T>A (p.Gly1327=)
c.2514T>A (p.Gly838=)
c.3699T>A (p.Gly1233=)
c.3285T>A (p.Gly1095=)
c.3891T>A (p.Gly1297=)
c.4245T>A (p.Gly1415=)
2g.25742273C>ACA346074247ASXL2c.4061G>T (p.Gly1354Val)
c.4064G>T (p.Gly1355Val)
c.3980G>T (p.Gly1327Val)
c.2513G>T (p.Gly838Val)
c.3698G>T (p.Gly1233Val)
c.3284G>T (p.Gly1095Val)
c.3890G>T (p.Gly1297Val)
c.4244G>T (p.Gly1415Val)
2g.25742273C=CA1239490384ASXL2c.4061G= (p.Gly1354=)
c.4064G= (p.Gly1355=)
c.3980G= (p.Gly1327=)
c.2513G= (p.Gly838=)
c.3698G= (p.Gly1233=)
c.3284G= (p.Gly1095=)
c.3890G= (p.Gly1297=)
c.4244G= (p.Gly1415=)
2g.25742273C>GCA346074249ASXL2c.4061G>C (p.Gly1354Ala)
c.4064G>C (p.Gly1355Ala)
c.3980G>C (p.Gly1327Ala)
c.2513G>C (p.Gly838Ala)
c.3698G>C (p.Gly1233Ala)
c.3284G>C (p.Gly1095Ala)
c.3890G>C (p.Gly1297Ala)
c.4244G>C (p.Gly1415Ala)
2g.25742273C>TCA1557367ASXL2c.4061G>A (p.Gly1354Asp)
c.4064G>A (p.Gly1355Asp)
c.3980G>A (p.Gly1327Asp)
c.2513G>A (p.Gly838Asp)
c.3698G>A (p.Gly1233Asp)
c.3284G>A (p.Gly1095Asp)
c.3890G>A (p.Gly1297Asp)
c.4244G>A (p.Gly1415Asp)
dbSNP ExAC gnomAD v2
2g.25742274C>ACA346074258ASXL2c.4060G>T (p.Gly1354Cys)
c.4063G>T (p.Gly1355Cys)
c.3979G>T (p.Gly1327Cys)
c.2512G>T (p.Gly838Cys)
c.3697G>T (p.Gly1233Cys)
c.3283G>T (p.Gly1095Cys)
c.3889G>T (p.Gly1297Cys)
c.4243G>T (p.Gly1415Cys)
2g.25742274C=CA1239490385ASXL2c.4060G= (p.Gly1354=)
c.4063G= (p.Gly1355=)
c.3979G= (p.Gly1327=)
c.2512G= (p.Gly838=)
c.3697G= (p.Gly1233=)
c.3283G= (p.Gly1095=)
c.3889G= (p.Gly1297=)
c.4243G= (p.Gly1415=)
2g.25742274C>GCA346074253ASXL2c.4060G>C (p.Gly1354Arg)
c.4063G>C (p.Gly1355Arg)
c.3979G>C (p.Gly1327Arg)
c.2512G>C (p.Gly838Arg)
c.3697G>C (p.Gly1233Arg)
c.3283G>C (p.Gly1095Arg)
c.3889G>C (p.Gly1297Arg)
c.4243G>C (p.Gly1415Arg)
2g.25742274C>TCA1557368ASXL2c.4060G>A (p.Gly1354Ser)
c.4063G>A (p.Gly1355Ser)
c.3979G>A (p.Gly1327Ser)
c.2512G>A (p.Gly838Ser)
c.3697G>A (p.Gly1233Ser)
c.3283G>A (p.Gly1095Ser)
c.3889G>A (p.Gly1297Ser)
c.4243G>A (p.Gly1415Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742275T>ACA425354421ASXL2c.4059A>T (p.Val1353=)
c.4062A>T (p.Val1354=)
c.3978A>T (p.Val1326=)
c.2511A>T (p.Val837=)
c.3696A>T (p.Val1232=)
c.3282A>T (p.Val1094=)
c.3888A>T (p.Val1296=)
c.4242A>T (p.Val1414=)
2g.25742275T>CCA425354423ASXL2c.4059A>G (p.Val1353=)
c.4062A>G (p.Val1354=)
c.3978A>G (p.Val1326=)
c.2511A>G (p.Val837=)
c.3696A>G (p.Val1232=)
c.3282A>G (p.Val1094=)
c.3888A>G (p.Val1296=)
c.4242A>G (p.Val1414=)
2g.25742275T>GCA425354429ASXL2c.4059A>C (p.Val1353=)
c.4062A>C (p.Val1354=)
c.3978A>C (p.Val1326=)
c.2511A>C (p.Val837=)
c.3696A>C (p.Val1232=)
c.3282A>C (p.Val1094=)
c.3888A>C (p.Val1296=)
c.4242A>C (p.Val1414=)
2g.25742276A=CA1239490386ASXL2c.4058T= (p.Val1353=)
c.4061T= (p.Val1354=)
c.3977T= (p.Val1326=)
c.2510T= (p.Val837=)
c.3695T= (p.Val1232=)
c.3281T= (p.Val1094=)
c.3887T= (p.Val1296=)
c.4241T= (p.Val1414=)
2g.25742276A>CCA346074261ASXL2c.4058T>G (p.Val1353Gly)
c.4061T>G (p.Val1354Gly)
c.3977T>G (p.Val1326Gly)
c.2510T>G (p.Val837Gly)
c.3695T>G (p.Val1232Gly)
c.3281T>G (p.Val1094Gly)
c.3887T>G (p.Val1296Gly)
c.4241T>G (p.Val1414Gly)
2g.25742276A>GCA1557369ASXL2c.4058T>C (p.Val1353Ala)
c.4061T>C (p.Val1354Ala)
c.3977T>C (p.Val1326Ala)
c.2510T>C (p.Val837Ala)
c.3695T>C (p.Val1232Ala)
c.3281T>C (p.Val1094Ala)
c.3887T>C (p.Val1296Ala)
c.4241T>C (p.Val1414Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742276A>TCA346074266ASXL2c.4058T>A (p.Val1353Glu)
c.4061T>A (p.Val1354Glu)
c.3977T>A (p.Val1326Glu)
c.2510T>A (p.Val837Glu)
c.3695T>A (p.Val1232Glu)
c.3281T>A (p.Val1094Glu)
c.3887T>A (p.Val1296Glu)
c.4241T>A (p.Val1414Glu)
2g.25742277C>ACA346074270ASXL2c.4057G>T (p.Val1353Leu)
c.4060G>T (p.Val1354Leu)
c.3976G>T (p.Val1326Leu)
c.2509G>T (p.Val837Leu)
c.3694G>T (p.Val1232Leu)
c.3280G>T (p.Val1094Leu)
c.3886G>T (p.Val1296Leu)
c.4240G>T (p.Val1414Leu)
2g.25742277C>GCA346074273ASXL2c.4057G>C (p.Val1353Leu)
c.4060G>C (p.Val1354Leu)
c.3976G>C (p.Val1326Leu)
c.2509G>C (p.Val837Leu)
c.3694G>C (p.Val1232Leu)
c.3280G>C (p.Val1094Leu)
c.3886G>C (p.Val1296Leu)
c.4240G>C (p.Val1414Leu)
2g.25742277C>TCA346074276ASXL2c.4057G>A (p.Val1353Ile)
c.4060G>A (p.Val1354Ile)
c.3976G>A (p.Val1326Ile)
c.2509G>A (p.Val837Ile)
c.3694G>A (p.Val1232Ile)
c.3280G>A (p.Val1094Ile)
c.3886G>A (p.Val1296Ile)
c.4240G>A (p.Val1414Ile)
2g.25742278A>CCA346074280ASXL2c.4056T>G (p.Asn1352Lys)
c.4059T>G (p.Asn1353Lys)
c.3975T>G (p.Asn1325Lys)
c.2508T>G (p.Asn836Lys)
c.3693T>G (p.Asn1231Lys)
c.3279T>G (p.Asn1093Lys)
c.3885T>G (p.Asn1295Lys)
c.4239T>G (p.Asn1413Lys)
2g.25742278A>GCA425354433ASXL2c.4056T>C (p.Asn1352=)
c.4059T>C (p.Asn1353=)
c.3975T>C (p.Asn1325=)
c.2508T>C (p.Asn836=)
c.3693T>C (p.Asn1231=)
c.3279T>C (p.Asn1093=)
c.3885T>C (p.Asn1295=)
c.4239T>C (p.Asn1413=)
2g.25742278A>TCA346074282ASXL2c.4056T>A (p.Asn1352Lys)
c.4059T>A (p.Asn1353Lys)
c.3975T>A (p.Asn1325Lys)
c.2508T>A (p.Asn836Lys)
c.3693T>A (p.Asn1231Lys)
c.3279T>A (p.Asn1093Lys)
c.3885T>A (p.Asn1295Lys)
c.4239T>A (p.Asn1413Lys)
2g.25742279T>ACA346074287ASXL2c.4055A>T (p.Asn1352Ile)
c.4058A>T (p.Asn1353Ile)
c.3974A>T (p.Asn1325Ile)
c.2507A>T (p.Asn836Ile)
c.3692A>T (p.Asn1231Ile)
c.3278A>T (p.Asn1093Ile)
c.3884A>T (p.Asn1295Ile)
c.4238A>T (p.Asn1413Ile)
dbSNP
2g.25742279T>CCA43734208ASXL2c.4055A>G (p.Asn1352Ser)
c.4058A>G (p.Asn1353Ser)
c.3974A>G (p.Asn1325Ser)
c.2507A>G (p.Asn836Ser)
c.3692A>G (p.Asn1231Ser)
c.3278A>G (p.Asn1093Ser)
c.3884A>G (p.Asn1295Ser)
c.4238A>G (p.Asn1413Ser)
dbSNP gnomAD v4
2g.25742279T>GCA346074291ASXL2c.4055A>C (p.Asn1352Thr)
c.4058A>C (p.Asn1353Thr)
c.3974A>C (p.Asn1325Thr)
c.2507A>C (p.Asn836Thr)
c.3692A>C (p.Asn1231Thr)
c.3278A>C (p.Asn1093Thr)
c.3884A>C (p.Asn1295Thr)
c.4238A>C (p.Asn1413Thr)
2g.25742279T=CA1239490387ASXL2c.4055A= (p.Asn1352=)
c.4058A= (p.Asn1353=)
c.3974A= (p.Asn1325=)
c.2507A= (p.Asn836=)
c.3692A= (p.Asn1231=)
c.3278A= (p.Asn1093=)
c.3884A= (p.Asn1295=)
c.4238A= (p.Asn1413=)
2g.25742280T>ACA346074301ASXL2c.4054A>T (p.Asn1352Tyr)
c.4057A>T (p.Asn1353Tyr)
c.3973A>T (p.Asn1325Tyr)
c.2506A>T (p.Asn836Tyr)
c.3691A>T (p.Asn1231Tyr)
c.3277A>T (p.Asn1093Tyr)
c.3883A>T (p.Asn1295Tyr)
c.4237A>T (p.Asn1413Tyr)
2g.25742280T>CCA346074298ASXL2c.4054A>G (p.Asn1352Asp)
c.4057A>G (p.Asn1353Asp)
c.3973A>G (p.Asn1325Asp)
c.2506A>G (p.Asn836Asp)
c.3691A>G (p.Asn1231Asp)
c.3277A>G (p.Asn1093Asp)
c.3883A>G (p.Asn1295Asp)
c.4237A>G (p.Asn1413Asp)
2g.25742280T>GCA346074297ASXL2c.4054A>C (p.Asn1352His)
c.4057A>C (p.Asn1353His)
c.3973A>C (p.Asn1325His)
c.2506A>C (p.Asn836His)
c.3691A>C (p.Asn1231His)
c.3277A>C (p.Asn1093His)
c.3883A>C (p.Asn1295His)
c.4237A>C (p.Asn1413His)
2g.25742281G>ACA425354440ASXL2c.4053C>T (p.Ser1351=)
c.4056C>T (p.Ser1352=)
c.3972C>T (p.Ser1324=)
c.2505C>T (p.Ser835=)
c.3690C>T (p.Ser1230=)
c.3276C>T (p.Ser1092=)
c.3882C>T (p.Ser1294=)
c.4236C>T (p.Ser1412=)
2g.25742281G>CCA346074303ASXL2c.4053C>G (p.Ser1351Arg)
c.4056C>G (p.Ser1352Arg)
c.3972C>G (p.Ser1324Arg)
c.2505C>G (p.Ser835Arg)
c.3690C>G (p.Ser1230Arg)
c.3276C>G (p.Ser1092Arg)
c.3882C>G (p.Ser1294Arg)
c.4236C>G (p.Ser1412Arg)
2g.25742281G>TCA346074316ASXL2c.4053C>A (p.Ser1351Arg)
c.4056C>A (p.Ser1352Arg)
c.3972C>A (p.Ser1324Arg)
c.2505C>A (p.Ser835Arg)
c.3690C>A (p.Ser1230Arg)
c.3276C>A (p.Ser1092Arg)
c.3882C>A (p.Ser1294Arg)
c.4236C>A (p.Ser1412Arg)

Number of alleles fetched