Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.25742016_25742017delCA767202327ASXL2c.*15_*16del (n.*15_*16del)
dbSNP gnomAD v4
2g.25742017T>CCA2576695331ASXL2c.*12A>G (n.*12A>G)
gnomAD v4
2g.25742018T>CCA2658189289ASXL2c.*11A>G (n.*11A>G)
gnomAD v4
2g.25742019T>CCA2658189290ASXL2c.*10A>G (n.*10A>G)
ClinVar gnomAD v4
2g.25742023G>CCA531761048ASXL2c.*6C>G (n.*6C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742023G=CA1239490298ASXL2c.*6C= (n.*6C=)
2g.25742024T>CCA1028563333ASXL2c.*5A>G (n.*5A>G)
dbSNP gnomAD v3 gnomAD v4
2g.25742024T=CA1239490299ASXL2c.*5A= (n.*5A=)
2g.25742025C=CA1239490300ASXL2c.*4G= (n.*4G=)
2g.25742025C>GCA2658189291ASXL2c.*4G>C (n.*4G>C)
gnomAD v4
2g.25742025C>TCA43734118ASXL2c.*4G>A (n.*4G>A)
dbSNP
2g.25742028A>CCA2576695332ASXL2c.*1T>G (n.*1T>G)
2g.25742029T>ACA346073439ASXL2c.4305A>T (p.Ter1435Tyr)
c.4308A>T (p.Ter1436Tyr)
c.4224A>T (p.Ter1408Tyr)
c.2757A>T (p.Ter919Tyr)
c.3942A>T (p.Ter1314Tyr)
c.3528A>T (p.Ter1176Tyr)
c.4134A>T (p.Ter1378Tyr)
c.4488A>T (p.Ter1496Tyr)
2g.25742029T>CCA425181231ASXL2c.4305A>G (p.Ter1435=)
c.4308A>G (p.Ter1436=)
c.4224A>G (p.Ter1408=)
c.2757A>G (p.Ter919=)
c.3942A>G (p.Ter1314=)
c.3528A>G (p.Ter1176=)
c.4134A>G (p.Ter1378=)
c.4488A>G (p.Ter1496=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742029T>GCA346073440ASXL2c.4305A>C (p.Ter1435Tyr)
c.4308A>C (p.Ter1436Tyr)
c.4224A>C (p.Ter1408Tyr)
c.2757A>C (p.Ter919Tyr)
c.3942A>C (p.Ter1314Tyr)
c.3528A>C (p.Ter1176Tyr)
c.4134A>C (p.Ter1378Tyr)
c.4488A>C (p.Ter1496Tyr)
2g.25742029T=CA1239490301ASXL2c.4305A= (p.Ter1435=)
c.4308A= (p.Ter1436=)
c.4224A= (p.Ter1408=)
c.2757A= (p.Ter919=)
c.3942A= (p.Ter1314=)
c.3528A= (p.Ter1176=)
c.4134A= (p.Ter1378=)
c.4488A= (p.Ter1496=)
2g.25742030T>ACA346073441ASXL2c.4304A>T (p.Ter1435Leu)
c.4307A>T (p.Ter1436Leu)
c.4223A>T (p.Ter1408Leu)
c.2756A>T (p.Ter919Leu)
c.3941A>T (p.Ter1314Leu)
c.3527A>T (p.Ter1176Leu)
c.4133A>T (p.Ter1378Leu)
c.4487A>T (p.Ter1496Leu)
2g.25742030T>CCA43734120ASXL2c.4304A>G (p.Ter1435=)
c.4307A>G (p.Ter1436=)
c.4223A>G (p.Ter1408=)
c.2756A>G (p.Ter919=)
c.3941A>G (p.Ter1314=)
c.3527A>G (p.Ter1176=)
c.4133A>G (p.Ter1378=)
c.4487A>G (p.Ter1496=)
dbSNP gnomAD v4
2g.25742030T>GCA346073442ASXL2c.4304A>C (p.Ter1435Ser)
c.4307A>C (p.Ter1436Ser)
c.4223A>C (p.Ter1408Ser)
c.2756A>C (p.Ter919Ser)
c.3941A>C (p.Ter1314Ser)
c.3527A>C (p.Ter1176Ser)
c.4133A>C (p.Ter1378Ser)
c.4487A>C (p.Ter1496Ser)
2g.25742030T=CA1239490302ASXL2c.4304A= (p.Ter1435=)
c.4307A= (p.Ter1436=)
c.4223A= (p.Ter1408=)
c.2756A= (p.Ter919=)
c.3941A= (p.Ter1314=)
c.3527A= (p.Ter1176=)
c.4133A= (p.Ter1378=)
c.4487A= (p.Ter1496=)
2g.25742031A>CCA346073443ASXL2c.4303T>G (p.Ter1435Glu)
c.4306T>G (p.Ter1436Glu)
c.4222T>G (p.Ter1408Glu)
c.2755T>G (p.Ter919Glu)
c.3940T>G (p.Ter1314Glu)
c.3526T>G (p.Ter1176Glu)
c.4132T>G (p.Ter1378Glu)
c.4486T>G (p.Ter1496Glu)
gnomAD v4
2g.25742031A>GCA346073445ASXL2c.4303T>C (p.Ter1435Gln)
c.4306T>C (p.Ter1436Gln)
c.4222T>C (p.Ter1408Gln)
c.2755T>C (p.Ter919Gln)
c.3940T>C (p.Ter1314Gln)
c.3526T>C (p.Ter1176Gln)
c.4132T>C (p.Ter1378Gln)
c.4486T>C (p.Ter1496Gln)
2g.25742031A>TCA346073444ASXL2c.4303T>A (p.Ter1435Lys)
c.4306T>A (p.Ter1436Lys)
c.4222T>A (p.Ter1408Lys)
c.2755T>A (p.Ter919Lys)
c.3940T>A (p.Ter1314Lys)
c.3526T>A (p.Ter1176Lys)
c.4132T>A (p.Ter1378Lys)
c.4486T>A (p.Ter1496Lys)
2g.25742032C>ACA425181233ASXL2c.4302G>T (p.Arg1434=)
c.4305G>T (p.Arg1435=)
c.4221G>T (p.Arg1407=)
c.2754G>T (p.Arg918=)
c.3939G>T (p.Arg1313=)
c.3525G>T (p.Arg1175=)
c.4131G>T (p.Arg1377=)
c.4485G>T (p.Arg1495=)
2g.25742032C>GCA425181234ASXL2c.4302G>C (p.Arg1434=)
c.4305G>C (p.Arg1435=)
c.4221G>C (p.Arg1407=)
c.2754G>C (p.Arg918=)
c.3939G>C (p.Arg1313=)
c.3525G>C (p.Arg1175=)
c.4131G>C (p.Arg1377=)
c.4485G>C (p.Arg1495=)
2g.25742032C>TCA425181235ASXL2c.4302G>A (p.Arg1434=)
c.4305G>A (p.Arg1435=)
c.4221G>A (p.Arg1407=)
c.2754G>A (p.Arg918=)
c.3939G>A (p.Arg1313=)
c.3525G>A (p.Arg1175=)
c.4131G>A (p.Arg1377=)
c.4485G>A (p.Arg1495=)
2g.25742033C>ACA1557316ASXL2c.4301G>T (p.Arg1434Leu)
c.4304G>T (p.Arg1435Leu)
c.4220G>T (p.Arg1407Leu)
c.2753G>T (p.Arg918Leu)
c.3938G>T (p.Arg1313Leu)
c.3524G>T (p.Arg1175Leu)
c.4130G>T (p.Arg1377Leu)
c.4484G>T (p.Arg1495Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742033C=CA1239490303ASXL2c.4301G= (p.Arg1434=)
c.4304G= (p.Arg1435=)
c.4220G= (p.Arg1407=)
c.2753G= (p.Arg918=)
c.3938G= (p.Arg1313=)
c.3524G= (p.Arg1175=)
c.4130G= (p.Arg1377=)
c.4484G= (p.Arg1495=)
2g.25742033C>GCA346073446ASXL2c.4301G>C (p.Arg1434Pro)
c.4304G>C (p.Arg1435Pro)
c.4220G>C (p.Arg1407Pro)
c.2753G>C (p.Arg918Pro)
c.3938G>C (p.Arg1313Pro)
c.3524G>C (p.Arg1175Pro)
c.4130G>C (p.Arg1377Pro)
c.4484G>C (p.Arg1495Pro)
dbSNP gnomAD v4
2g.25742033C>TCA43734121ASXL2c.4301G>A (p.Arg1434Gln)
c.4304G>A (p.Arg1435Gln)
c.4220G>A (p.Arg1407Gln)
c.2753G>A (p.Arg918Gln)
c.3938G>A (p.Arg1313Gln)
c.3524G>A (p.Arg1175Gln)
c.4130G>A (p.Arg1377Gln)
c.4484G>A (p.Arg1495Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742034G>ACA1557318ASXL2c.4300C>T (p.Arg1434Trp)
c.4303C>T (p.Arg1435Trp)
c.4219C>T (p.Arg1407Trp)
c.2752C>T (p.Arg918Trp)
c.3937C>T (p.Arg1313Trp)
c.3523C>T (p.Arg1175Trp)
c.4129C>T (p.Arg1377Trp)
c.4483C>T (p.Arg1495Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.25742034G>CCA1557317ASXL2c.4300C>G (p.Arg1434Gly)
c.4303C>G (p.Arg1435Gly)
c.4219C>G (p.Arg1407Gly)
c.2752C>G (p.Arg918Gly)
c.3937C>G (p.Arg1313Gly)
c.3523C>G (p.Arg1175Gly)
c.4129C>G (p.Arg1377Gly)
c.4483C>G (p.Arg1495Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742034G=CA1239490304ASXL2c.4300C= (p.Arg1434=)
c.4303C= (p.Arg1435=)
c.4219C= (p.Arg1407=)
c.2752C= (p.Arg918=)
c.3937C= (p.Arg1313=)
c.3523C= (p.Arg1175=)
c.4129C= (p.Arg1377=)
c.4483C= (p.Arg1495=)
2g.25742034G>TCA425181236ASXL2c.4300C>A (p.Arg1434=)
c.4303C>A (p.Arg1435=)
c.4219C>A (p.Arg1407=)
c.2752C>A (p.Arg918=)
c.3937C>A (p.Arg1313=)
c.3523C>A (p.Arg1175=)
c.4129C>A (p.Arg1377=)
c.4483C>A (p.Arg1495=)
dbSNP gnomAD v2 gnomAD v4
2g.25742035_25742036insCATTACTGACA531761049ASXL2c.4300_4301insAGTAATGTC (p.Arg1434GlnfsTer2)
c.4303_4304insAGTAATGTC (p.Arg1435GlnfsTer2)
c.4219_4220insAGTAATGTC (p.Arg1407GlnfsTer2)
c.2752_2753insAGTAATGTC (p.Arg918GlnfsTer2)
c.3937_3938insAGTAATGTC (p.Arg1313GlnfsTer2)
c.3523_3524insAGTAATGTC (p.Arg1175GlnfsTer2)
c.4129_4130insAGTAATGTC (p.Arg1377GlnfsTer2)
c.4483_4484insAGTAATGTC (p.Arg1495GlnfsTer2)
dbSNP gnomAD v2 gnomAD v4
2g.25742035A>CCA425181237ASXL2c.4299T>G (p.Val1433=)
c.4302T>G (p.Val1434=)
c.4218T>G (p.Val1406=)
c.2751T>G (p.Val917=)
c.3936T>G (p.Val1312=)
c.3522T>G (p.Val1174=)
c.4128T>G (p.Val1376=)
c.4482T>G (p.Val1494=)
2g.25742035A>GCA425181238ASXL2c.4299T>C (p.Val1433=)
c.4302T>C (p.Val1434=)
c.4218T>C (p.Val1406=)
c.2751T>C (p.Val917=)
c.3936T>C (p.Val1312=)
c.3522T>C (p.Val1174=)
c.4128T>C (p.Val1376=)
c.4482T>C (p.Val1494=)
2g.25742035A>TCA425181239ASXL2c.4299T>A (p.Val1433=)
c.4302T>A (p.Val1434=)
c.4218T>A (p.Val1406=)
c.2751T>A (p.Val917=)
c.3936T>A (p.Val1312=)
c.3522T>A (p.Val1174=)
c.4128T>A (p.Val1376=)
c.4482T>A (p.Val1494=)
2g.25742035_25742038delinsAACGCA1239490305ASXL2c.4296_4299delinsCGTT (p.Val1432=)
c.4299_4302delinsCGTT (p.Val1433=)
c.4215_4218delinsCGTT (p.Val1405=)
c.2748_2751delinsCGTT (p.Val916=)
c.3933_3936delinsCGTT (p.Val1311=)
c.3519_3522delinsCGTT (p.Val1173=)
c.4125_4128delinsCGTT (p.Val1375=)
c.4479_4482delinsCGTT (p.Val1493=)
2g.25742036A>CCA346073447ASXL2c.4298T>G (p.Val1433Gly)
c.4301T>G (p.Val1434Gly)
c.4217T>G (p.Val1406Gly)
c.2750T>G (p.Val917Gly)
c.3935T>G (p.Val1312Gly)
c.3521T>G (p.Val1174Gly)
c.4127T>G (p.Val1376Gly)
c.4481T>G (p.Val1494Gly)
2g.25742036A>GCA346073448ASXL2c.4298T>C (p.Val1433Ala)
c.4301T>C (p.Val1434Ala)
c.4217T>C (p.Val1406Ala)
c.2750T>C (p.Val917Ala)
c.3935T>C (p.Val1312Ala)
c.3521T>C (p.Val1174Ala)
c.4127T>C (p.Val1376Ala)
c.4481T>C (p.Val1494Ala)
2g.25742036A>TCA346073449ASXL2c.4298T>A (p.Val1433Asp)
c.4301T>A (p.Val1434Asp)
c.4217T>A (p.Val1406Asp)
c.2750T>A (p.Val917Asp)
c.3935T>A (p.Val1312Asp)
c.3521T>A (p.Val1174Asp)
c.4127T>A (p.Val1376Asp)
c.4481T>A (p.Val1494Asp)
2g.25742038_25742040delCA1239490306ASXL2c.4296_4298del (p.Val1433del)
c.4299_4301del (p.Val1434del)
c.4215_4217del (p.Val1406del)
c.2748_2750del (p.Val917del)
c.3933_3935del (p.Val1312del)
c.3519_3521del (p.Val1174del)
c.4125_4127del (p.Val1376del)
c.4479_4481del (p.Val1494del)
dbSNP gnomAD v4
2g.25742037C>ACA346073450ASXL2c.4297G>T (p.Val1433Phe)
c.4300G>T (p.Val1434Phe)
c.4216G>T (p.Val1406Phe)
c.2749G>T (p.Val917Phe)
c.3934G>T (p.Val1312Phe)
c.3520G>T (p.Val1174Phe)
c.4126G>T (p.Val1376Phe)
c.4480G>T (p.Val1494Phe)
2g.25742037C=CA1239490307ASXL2c.4297G= (p.Val1433=)
c.4300G= (p.Val1434=)
c.4216G= (p.Val1406=)
c.2749G= (p.Val917=)
c.3934G= (p.Val1312=)
c.3520G= (p.Val1174=)
c.4126G= (p.Val1376=)
c.4480G= (p.Val1494=)
2g.25742037C>GCA346073451ASXL2c.4297G>C (p.Val1433Leu)
c.4300G>C (p.Val1434Leu)
c.4216G>C (p.Val1406Leu)
c.2749G>C (p.Val917Leu)
c.3934G>C (p.Val1312Leu)
c.3520G>C (p.Val1174Leu)
c.4126G>C (p.Val1376Leu)
c.4480G>C (p.Val1494Leu)
gnomAD v4
2g.25742037C>TCA346073452ASXL2c.4297G>A (p.Val1433Ile)
c.4300G>A (p.Val1434Ile)
c.4216G>A (p.Val1406Ile)
c.2749G>A (p.Val917Ile)
c.3934G>A (p.Val1312Ile)
c.3520G>A (p.Val1174Ile)
c.4126G>A (p.Val1376Ile)
c.4480G>A (p.Val1494Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742038G>ACA1557319ASXL2c.4296C>T (p.Val1432=)
c.4299C>T (p.Val1433=)
c.4215C>T (p.Val1405=)
c.2748C>T (p.Val916=)
c.3933C>T (p.Val1311=)
c.3519C>T (p.Val1173=)
c.4125C>T (p.Val1375=)
c.4479C>T (p.Val1493=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742038G>CCA1557320ASXL2c.4296C>G (p.Val1432=)
c.4299C>G (p.Val1433=)
c.4215C>G (p.Val1405=)
c.2748C>G (p.Val916=)
c.3933C>G (p.Val1311=)
c.3519C>G (p.Val1173=)
c.4125C>G (p.Val1375=)
c.4479C>G (p.Val1493=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742038G=CA1239490308ASXL2c.4296C= (p.Val1432=)
c.4299C= (p.Val1433=)
c.4215C= (p.Val1405=)
c.2748C= (p.Val916=)
c.3933C= (p.Val1311=)
c.3519C= (p.Val1173=)
c.4125C= (p.Val1375=)
c.4479C= (p.Val1493=)
2g.25742038G>TCA425181240ASXL2c.4296C>A (p.Val1432=)
c.4299C>A (p.Val1433=)
c.4215C>A (p.Val1405=)
c.2748C>A (p.Val916=)
c.3933C>A (p.Val1311=)
c.3519C>A (p.Val1173=)
c.4125C>A (p.Val1375=)
c.4479C>A (p.Val1493=)
dbSNP gnomAD v4
2g.25742039A>CCA346073455ASXL2c.4295T>G (p.Val1432Gly)
c.4298T>G (p.Val1433Gly)
c.4214T>G (p.Val1405Gly)
c.2747T>G (p.Val916Gly)
c.3932T>G (p.Val1311Gly)
c.3518T>G (p.Val1173Gly)
c.4124T>G (p.Val1375Gly)
c.4478T>G (p.Val1493Gly)
2g.25742039A>GCA346073454ASXL2c.4295T>C (p.Val1432Ala)
c.4298T>C (p.Val1433Ala)
c.4214T>C (p.Val1405Ala)
c.2747T>C (p.Val916Ala)
c.3932T>C (p.Val1311Ala)
c.3518T>C (p.Val1173Ala)
c.4124T>C (p.Val1375Ala)
c.4478T>C (p.Val1493Ala)
2g.25742039A>TCA346073453ASXL2c.4295T>A (p.Val1432Asp)
c.4298T>A (p.Val1433Asp)
c.4214T>A (p.Val1405Asp)
c.2747T>A (p.Val916Asp)
c.3932T>A (p.Val1311Asp)
c.3518T>A (p.Val1173Asp)
c.4124T>A (p.Val1375Asp)
c.4478T>A (p.Val1493Asp)
2g.25742040C>ACA346073456ASXL2c.4294G>T (p.Val1432Phe)
c.4297G>T (p.Val1433Phe)
c.4213G>T (p.Val1405Phe)
c.2746G>T (p.Val916Phe)
c.3931G>T (p.Val1311Phe)
c.3517G>T (p.Val1173Phe)
c.4123G>T (p.Val1375Phe)
c.4477G>T (p.Val1493Phe)
2g.25742040C>GCA346073457ASXL2c.4294G>C (p.Val1432Leu)
c.4297G>C (p.Val1433Leu)
c.4213G>C (p.Val1405Leu)
c.2746G>C (p.Val916Leu)
c.3931G>C (p.Val1311Leu)
c.3517G>C (p.Val1173Leu)
c.4123G>C (p.Val1375Leu)
c.4477G>C (p.Val1493Leu)
2g.25742040C>TCA346073458ASXL2c.4294G>A (p.Val1432Ile)
c.4297G>A (p.Val1433Ile)
c.4213G>A (p.Val1405Ile)
c.2746G>A (p.Val916Ile)
c.3931G>A (p.Val1311Ile)
c.3517G>A (p.Val1173Ile)
c.4123G>A (p.Val1375Ile)
c.4477G>A (p.Val1493Ile)
2g.25742041A>CCA425181241ASXL2c.4293T>G (p.Leu1431=)
c.4296T>G (p.Leu1432=)
c.4212T>G (p.Leu1404=)
c.2745T>G (p.Leu915=)
c.3930T>G (p.Leu1310=)
c.3516T>G (p.Leu1172=)
c.4122T>G (p.Leu1374=)
c.4476T>G (p.Leu1492=)
2g.25742041A>GCA425181242ASXL2c.4293T>C (p.Leu1431=)
c.4296T>C (p.Leu1432=)
c.4212T>C (p.Leu1404=)
c.2745T>C (p.Leu915=)
c.3930T>C (p.Leu1310=)
c.3516T>C (p.Leu1172=)
c.4122T>C (p.Leu1374=)
c.4476T>C (p.Leu1492=)
2g.25742041A>TCA425181243ASXL2c.4293T>A (p.Leu1431=)
c.4296T>A (p.Leu1432=)
c.4212T>A (p.Leu1404=)
c.2745T>A (p.Leu915=)
c.3930T>A (p.Leu1310=)
c.3516T>A (p.Leu1172=)
c.4122T>A (p.Leu1374=)
c.4476T>A (p.Leu1492=)
2g.25742042A>CCA346073459ASXL2c.4292T>G (p.Leu1431Arg)
c.4295T>G (p.Leu1432Arg)
c.4211T>G (p.Leu1404Arg)
c.2744T>G (p.Leu915Arg)
c.3929T>G (p.Leu1310Arg)
c.3515T>G (p.Leu1172Arg)
c.4121T>G (p.Leu1374Arg)
c.4475T>G (p.Leu1492Arg)
2g.25742042A>GCA346073460ASXL2c.4292T>C (p.Leu1431Pro)
c.4295T>C (p.Leu1432Pro)
c.4211T>C (p.Leu1404Pro)
c.2744T>C (p.Leu915Pro)
c.3929T>C (p.Leu1310Pro)
c.3515T>C (p.Leu1172Pro)
c.4121T>C (p.Leu1374Pro)
c.4475T>C (p.Leu1492Pro)
2g.25742042A>TCA346073461ASXL2c.4292T>A (p.Leu1431His)
c.4295T>A (p.Leu1432His)
c.4211T>A (p.Leu1404His)
c.2744T>A (p.Leu915His)
c.3929T>A (p.Leu1310His)
c.3515T>A (p.Leu1172His)
c.4121T>A (p.Leu1374His)
c.4475T>A (p.Leu1492His)
2g.25742043G>ACA346073462ASXL2c.4291C>T (p.Leu1431Phe)
c.4294C>T (p.Leu1432Phe)
c.4210C>T (p.Leu1404Phe)
c.2743C>T (p.Leu915Phe)
c.3928C>T (p.Leu1310Phe)
c.3514C>T (p.Leu1172Phe)
c.4120C>T (p.Leu1374Phe)
c.4474C>T (p.Leu1492Phe)
2g.25742043G>CCA346073463ASXL2c.4291C>G (p.Leu1431Val)
c.4294C>G (p.Leu1432Val)
c.4210C>G (p.Leu1404Val)
c.2743C>G (p.Leu915Val)
c.3928C>G (p.Leu1310Val)
c.3514C>G (p.Leu1172Val)
c.4120C>G (p.Leu1374Val)
c.4474C>G (p.Leu1492Val)
2g.25742043G>TCA346073464ASXL2c.4291C>A (p.Leu1431Ile)
c.4294C>A (p.Leu1432Ile)
c.4210C>A (p.Leu1404Ile)
c.2743C>A (p.Leu915Ile)
c.3928C>A (p.Leu1310Ile)
c.3514C>A (p.Leu1172Ile)
c.4120C>A (p.Leu1374Ile)
c.4474C>A (p.Leu1492Ile)
2g.25742044G>ACA425181244ASXL2c.4290C>T (p.Cys1430=)
c.4293C>T (p.Cys1431=)
c.4209C>T (p.Cys1403=)
c.2742C>T (p.Cys914=)
c.3927C>T (p.Cys1309=)
c.3513C>T (p.Cys1171=)
c.4119C>T (p.Cys1373=)
c.4473C>T (p.Cys1491=)
gnomAD v4 COSMIC COSMIC
2g.25742044G>CCA346073465ASXL2c.4290C>G (p.Cys1430Trp)
c.4293C>G (p.Cys1431Trp)
c.4209C>G (p.Cys1403Trp)
c.2742C>G (p.Cys914Trp)
c.3927C>G (p.Cys1309Trp)
c.3513C>G (p.Cys1171Trp)
c.4119C>G (p.Cys1373Trp)
c.4473C>G (p.Cys1491Trp)
2g.25742044G>TCA346073466ASXL2c.4290C>A (p.Cys1430Ter)
c.4293C>A (p.Cys1431Ter)
c.4209C>A (p.Cys1403Ter)
c.2742C>A (p.Cys914Ter)
c.3927C>A (p.Cys1309Ter)
c.3513C>A (p.Cys1171Ter)
c.4119C>A (p.Cys1373Ter)
c.4473C>A (p.Cys1491Ter)
2g.25742045C>ACA346073469ASXL2c.4289G>T (p.Cys1430Phe)
c.4292G>T (p.Cys1431Phe)
c.4208G>T (p.Cys1403Phe)
c.2741G>T (p.Cys914Phe)
c.3926G>T (p.Cys1309Phe)
c.3512G>T (p.Cys1171Phe)
c.4118G>T (p.Cys1373Phe)
c.4472G>T (p.Cys1491Phe)
2g.25742045C>GCA346073468ASXL2c.4289G>C (p.Cys1430Ser)
c.4292G>C (p.Cys1431Ser)
c.4208G>C (p.Cys1403Ser)
c.2741G>C (p.Cys914Ser)
c.3926G>C (p.Cys1309Ser)
c.3512G>C (p.Cys1171Ser)
c.4118G>C (p.Cys1373Ser)
c.4472G>C (p.Cys1491Ser)
2g.25742045C>TCA346073467ASXL2c.4289G>A (p.Cys1430Tyr)
c.4292G>A (p.Cys1431Tyr)
c.4208G>A (p.Cys1403Tyr)
c.2741G>A (p.Cys914Tyr)
c.3926G>A (p.Cys1309Tyr)
c.3512G>A (p.Cys1171Tyr)
c.4118G>A (p.Cys1373Tyr)
c.4472G>A (p.Cys1491Tyr)
2g.25742046A>CCA346073470ASXL2c.4288T>G (p.Cys1430Gly)
c.4291T>G (p.Cys1431Gly)
c.4207T>G (p.Cys1403Gly)
c.2740T>G (p.Cys914Gly)
c.3925T>G (p.Cys1309Gly)
c.3511T>G (p.Cys1171Gly)
c.4117T>G (p.Cys1373Gly)
c.4471T>G (p.Cys1491Gly)
2g.25742046A>GCA346073471ASXL2c.4288T>C (p.Cys1430Arg)
c.4291T>C (p.Cys1431Arg)
c.4207T>C (p.Cys1403Arg)
c.2740T>C (p.Cys914Arg)
c.3925T>C (p.Cys1309Arg)
c.3511T>C (p.Cys1171Arg)
c.4117T>C (p.Cys1373Arg)
c.4471T>C (p.Cys1491Arg)
2g.25742046A>TCA346073472ASXL2c.4288T>A (p.Cys1430Ser)
c.4291T>A (p.Cys1431Ser)
c.4207T>A (p.Cys1403Ser)
c.2740T>A (p.Cys914Ser)
c.3925T>A (p.Cys1309Ser)
c.3511T>A (p.Cys1171Ser)
c.4117T>A (p.Cys1373Ser)
c.4471T>A (p.Cys1491Ser)
2g.25742047G>ACA425181247ASXL2c.4287C>T (p.Ser1429=)
c.4290C>T (p.Ser1430=)
c.4206C>T (p.Ser1402=)
c.2739C>T (p.Ser913=)
c.3924C>T (p.Ser1308=)
c.3510C>T (p.Ser1170=)
c.4116C>T (p.Ser1372=)
c.4470C>T (p.Ser1490=)
2g.25742047G>CCA425181246ASXL2c.4287C>G (p.Ser1429=)
c.4290C>G (p.Ser1430=)
c.4206C>G (p.Ser1402=)
c.2739C>G (p.Ser913=)
c.3924C>G (p.Ser1308=)
c.3510C>G (p.Ser1170=)
c.4116C>G (p.Ser1372=)
c.4470C>G (p.Ser1490=)
2g.25742047G>TCA425181245ASXL2c.4287C>A (p.Ser1429=)
c.4290C>A (p.Ser1430=)
c.4206C>A (p.Ser1402=)
c.2739C>A (p.Ser913=)
c.3924C>A (p.Ser1308=)
c.3510C>A (p.Ser1170=)
c.4116C>A (p.Ser1372=)
c.4470C>A (p.Ser1490=)
2g.25742048G>ACA346073473ASXL2c.4286C>T (p.Ser1429Phe)
c.4289C>T (p.Ser1430Phe)
c.4205C>T (p.Ser1402Phe)
c.2738C>T (p.Ser913Phe)
c.3923C>T (p.Ser1308Phe)
c.3509C>T (p.Ser1170Phe)
c.4115C>T (p.Ser1372Phe)
c.4469C>T (p.Ser1490Phe)
2g.25742048G>CCA346073474ASXL2c.4286C>G (p.Ser1429Cys)
c.4289C>G (p.Ser1430Cys)
c.4205C>G (p.Ser1402Cys)
c.2738C>G (p.Ser913Cys)
c.3923C>G (p.Ser1308Cys)
c.3509C>G (p.Ser1170Cys)
c.4115C>G (p.Ser1372Cys)
c.4469C>G (p.Ser1490Cys)
2g.25742048G>TCA346073475ASXL2c.4286C>A (p.Ser1429Tyr)
c.4289C>A (p.Ser1430Tyr)
c.4205C>A (p.Ser1402Tyr)
c.2738C>A (p.Ser913Tyr)
c.3923C>A (p.Ser1308Tyr)
c.3509C>A (p.Ser1170Tyr)
c.4115C>A (p.Ser1372Tyr)
c.4469C>A (p.Ser1490Tyr)
2g.25742049A>CCA346073476ASXL2c.4285T>G (p.Ser1429Ala)
c.4288T>G (p.Ser1430Ala)
c.4204T>G (p.Ser1402Ala)
c.2737T>G (p.Ser913Ala)
c.3922T>G (p.Ser1308Ala)
c.3508T>G (p.Ser1170Ala)
c.4114T>G (p.Ser1372Ala)
c.4468T>G (p.Ser1490Ala)
2g.25742049A>GCA346073477ASXL2c.4285T>C (p.Ser1429Pro)
c.4288T>C (p.Ser1430Pro)
c.4204T>C (p.Ser1402Pro)
c.2737T>C (p.Ser913Pro)
c.3922T>C (p.Ser1308Pro)
c.3508T>C (p.Ser1170Pro)
c.4114T>C (p.Ser1372Pro)
c.4468T>C (p.Ser1490Pro)
2g.25742049A>TCA346073478ASXL2c.4285T>A (p.Ser1429Thr)
c.4288T>A (p.Ser1430Thr)
c.4204T>A (p.Ser1402Thr)
c.2737T>A (p.Ser913Thr)
c.3922T>A (p.Ser1308Thr)
c.3508T>A (p.Ser1170Thr)
c.4114T>A (p.Ser1372Thr)
c.4468T>A (p.Ser1490Thr)
2g.25742050G>ACA425181248ASXL2c.4284C>T (p.Val1428=)
c.4287C>T (p.Val1429=)
c.4203C>T (p.Val1401=)
c.2736C>T (p.Val912=)
c.3921C>T (p.Val1307=)
c.3507C>T (p.Val1169=)
c.4113C>T (p.Val1371=)
c.4467C>T (p.Val1489=)
2g.25742050G>CCA425181249ASXL2c.4284C>G (p.Val1428=)
c.4287C>G (p.Val1429=)
c.4203C>G (p.Val1401=)
c.2736C>G (p.Val912=)
c.3921C>G (p.Val1307=)
c.3507C>G (p.Val1169=)
c.4113C>G (p.Val1371=)
c.4467C>G (p.Val1489=)
2g.25742050G>TCA425181250ASXL2c.4284C>A (p.Val1428=)
c.4287C>A (p.Val1429=)
c.4203C>A (p.Val1401=)
c.2736C>A (p.Val912=)
c.3921C>A (p.Val1307=)
c.3507C>A (p.Val1169=)
c.4113C>A (p.Val1371=)
c.4467C>A (p.Val1489=)
2g.25742051A>CCA346073479ASXL2c.4283T>G (p.Val1428Gly)
c.4286T>G (p.Val1429Gly)
c.4202T>G (p.Val1401Gly)
c.2735T>G (p.Val912Gly)
c.3920T>G (p.Val1307Gly)
c.3506T>G (p.Val1169Gly)
c.4112T>G (p.Val1371Gly)
c.4466T>G (p.Val1489Gly)
2g.25742051A>GCA346073480ASXL2c.4283T>C (p.Val1428Ala)
c.4286T>C (p.Val1429Ala)
c.4202T>C (p.Val1401Ala)
c.2735T>C (p.Val912Ala)
c.3920T>C (p.Val1307Ala)
c.3506T>C (p.Val1169Ala)
c.4112T>C (p.Val1371Ala)
c.4466T>C (p.Val1489Ala)
2g.25742051A>TCA346073481ASXL2c.4283T>A (p.Val1428Asp)
c.4286T>A (p.Val1429Asp)
c.4202T>A (p.Val1401Asp)
c.2735T>A (p.Val912Asp)
c.3920T>A (p.Val1307Asp)
c.3506T>A (p.Val1169Asp)
c.4112T>A (p.Val1371Asp)
c.4466T>A (p.Val1489Asp)
2g.25742052C>ACA346073483ASXL2c.4282G>T (p.Val1428Phe)
c.4285G>T (p.Val1429Phe)
c.4201G>T (p.Val1401Phe)
c.2734G>T (p.Val912Phe)
c.3919G>T (p.Val1307Phe)
c.3505G>T (p.Val1169Phe)
c.4111G>T (p.Val1371Phe)
c.4465G>T (p.Val1489Phe)
2g.25742052C=CA1239490309ASXL2c.4282G= (p.Val1428=)
c.4285G= (p.Val1429=)
c.4201G= (p.Val1401=)
c.2734G= (p.Val912=)
c.3919G= (p.Val1307=)
c.3505G= (p.Val1169=)
c.4111G= (p.Val1371=)
c.4465G= (p.Val1489=)
2g.25742052C>GCA346073482ASXL2c.4282G>C (p.Val1428Leu)
c.4285G>C (p.Val1429Leu)
c.4201G>C (p.Val1401Leu)
c.2734G>C (p.Val912Leu)
c.3919G>C (p.Val1307Leu)
c.3505G>C (p.Val1169Leu)
c.4111G>C (p.Val1371Leu)
c.4465G>C (p.Val1489Leu)
2g.25742052C>TCA1557321ASXL2c.4282G>A (p.Val1428Ile)
c.4285G>A (p.Val1429Ile)
c.4201G>A (p.Val1401Ile)
c.2734G>A (p.Val912Ile)
c.3919G>A (p.Val1307Ile)
c.3505G>A (p.Val1169Ile)
c.4111G>A (p.Val1371Ile)
c.4465G>A (p.Val1489Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.25742053G>ACA1557322ASXL2c.4281C>T (p.Cys1427=)
c.4284C>T (p.Cys1428=)
c.4200C>T (p.Cys1400=)
c.2733C>T (p.Cys911=)
c.3918C>T (p.Cys1306=)
c.3504C>T (p.Cys1168=)
c.4110C>T (p.Cys1370=)
c.4464C>T (p.Cys1488=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.25742053G>CCA346073484ASXL2c.4281C>G (p.Cys1427Trp)
c.4284C>G (p.Cys1428Trp)
c.4200C>G (p.Cys1400Trp)
c.2733C>G (p.Cys911Trp)
c.3918C>G (p.Cys1306Trp)
c.3504C>G (p.Cys1168Trp)
c.4110C>G (p.Cys1370Trp)
c.4464C>G (p.Cys1488Trp)
2g.25742053G=CA1239490311ASXL2c.4281C= (p.Cys1427=)
c.4284C= (p.Cys1428=)
c.4200C= (p.Cys1400=)
c.2733C= (p.Cys911=)
c.3918C= (p.Cys1306=)
c.3504C= (p.Cys1168=)
c.4110C= (p.Cys1370=)
c.4464C= (p.Cys1488=)
2g.25742053G>TCA346073485ASXL2c.4281C>A (p.Cys1427Ter)
c.4284C>A (p.Cys1428Ter)
c.4200C>A (p.Cys1400Ter)
c.2733C>A (p.Cys911Ter)
c.3918C>A (p.Cys1306Ter)
c.3504C>A (p.Cys1168Ter)
c.4110C>A (p.Cys1370Ter)
c.4464C>A (p.Cys1488Ter)
2g.25742053_25742055delinsGCACA1239490310ASXL2c.4279_4281delinsTGC (p.Cys1427=)
c.4282_4284delinsTGC (p.Cys1428=)
c.4198_4200delinsTGC (p.Cys1400=)
c.2731_2733delinsTGC (p.Cys911=)
c.3916_3918delinsTGC (p.Cys1306=)
c.3502_3504delinsTGC (p.Cys1168=)
c.4108_4110delinsTGC (p.Cys1370=)
c.4462_4464delinsTGC (p.Cys1488=)
2g.25742054C>ACA346073486ASXL2c.4280G>T (p.Cys1427Phe)
c.4283G>T (p.Cys1428Phe)
c.4199G>T (p.Cys1400Phe)
c.2732G>T (p.Cys911Phe)
c.3917G>T (p.Cys1306Phe)
c.3503G>T (p.Cys1168Phe)
c.4109G>T (p.Cys1370Phe)
c.4463G>T (p.Cys1488Phe)
2g.25742054C>GCA346073487ASXL2c.4280G>C (p.Cys1427Ser)
c.4283G>C (p.Cys1428Ser)
c.4199G>C (p.Cys1400Ser)
c.2732G>C (p.Cys911Ser)
c.3917G>C (p.Cys1306Ser)
c.3503G>C (p.Cys1168Ser)
c.4109G>C (p.Cys1370Ser)
c.4463G>C (p.Cys1488Ser)
2g.25742054C>TCA346073488ASXL2c.4280G>A (p.Cys1427Tyr)
c.4283G>A (p.Cys1428Tyr)
c.4199G>A (p.Cys1400Tyr)
c.2732G>A (p.Cys911Tyr)
c.3917G>A (p.Cys1306Tyr)
c.3503G>A (p.Cys1168Tyr)
c.4109G>A (p.Cys1370Tyr)
c.4463G>A (p.Cys1488Tyr)
2g.25742056_25742057delCA531761050ASXL2c.4279_4280del (p.Cys1427ArgfsTer17)
c.4282_4283del (p.Cys1428ArgfsTer17)
c.4198_4199del (p.Cys1400ArgfsTer17)
c.2731_2732del (p.Cys911ArgfsTer17)
c.3916_3917del (p.Cys1306ArgfsTer17)
c.3502_3503del (p.Cys1168ArgfsTer17)
c.4108_4109del (p.Cys1370ArgfsTer17)
c.4462_4463del (p.Cys1488ArgfsTer17)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742055A>CCA346073489ASXL2c.4279T>G (p.Cys1427Gly)
c.4282T>G (p.Cys1428Gly)
c.4198T>G (p.Cys1400Gly)
c.2731T>G (p.Cys911Gly)
c.3916T>G (p.Cys1306Gly)
c.3502T>G (p.Cys1168Gly)
c.4108T>G (p.Cys1370Gly)
c.4462T>G (p.Cys1488Gly)
2g.25742055A>GCA346073490ASXL2c.4279T>C (p.Cys1427Arg)
c.4282T>C (p.Cys1428Arg)
c.4198T>C (p.Cys1400Arg)
c.2731T>C (p.Cys911Arg)
c.3916T>C (p.Cys1306Arg)
c.3502T>C (p.Cys1168Arg)
c.4108T>C (p.Cys1370Arg)
c.4462T>C (p.Cys1488Arg)
2g.25742055A>TCA346073491ASXL2c.4279T>A (p.Cys1427Ser)
c.4282T>A (p.Cys1428Ser)
c.4198T>A (p.Cys1400Ser)
c.2731T>A (p.Cys911Ser)
c.3916T>A (p.Cys1306Ser)
c.3502T>A (p.Cys1168Ser)
c.4108T>A (p.Cys1370Ser)
c.4462T>A (p.Cys1488Ser)
2g.25742056C>ACA425181251ASXL2c.4278G>T (p.Leu1426=)
c.4281G>T (p.Leu1427=)
c.4197G>T (p.Leu1399=)
c.2730G>T (p.Leu910=)
c.3915G>T (p.Leu1305=)
c.3501G>T (p.Leu1167=)
c.4107G>T (p.Leu1369=)
c.4461G>T (p.Leu1487=)
gnomAD v4
2g.25742056C=CA1239490312ASXL2c.4278G= (p.Leu1426=)
c.4281G= (p.Leu1427=)
c.4197G= (p.Leu1399=)
c.2730G= (p.Leu910=)
c.3915G= (p.Leu1305=)
c.3501G= (p.Leu1167=)
c.4107G= (p.Leu1369=)
c.4461G= (p.Leu1487=)
2g.25742056C>GCA425181252ASXL2c.4278G>C (p.Leu1426=)
c.4281G>C (p.Leu1427=)
c.4197G>C (p.Leu1399=)
c.2730G>C (p.Leu910=)
c.3915G>C (p.Leu1305=)
c.3501G>C (p.Leu1167=)
c.4107G>C (p.Leu1369=)
c.4461G>C (p.Leu1487=)
ClinVar dbSNP gnomAD v4
2g.25742056C>TCA425181253ASXL2c.4278G>A (p.Leu1426=)
c.4281G>A (p.Leu1427=)
c.4197G>A (p.Leu1399=)
c.2730G>A (p.Leu910=)
c.3915G>A (p.Leu1305=)
c.3501G>A (p.Leu1167=)
c.4107G>A (p.Leu1369=)
c.4461G>A (p.Leu1487=)
2g.25742057A=CA1239490313ASXL2c.4277T= (p.Leu1426=)
c.4280T= (p.Leu1427=)
c.4196T= (p.Leu1399=)
c.2729T= (p.Leu910=)
c.3914T= (p.Leu1305=)
c.3500T= (p.Leu1167=)
c.4106T= (p.Leu1369=)
c.4460T= (p.Leu1487=)
2g.25742057A>CCA346073492ASXL2c.4277T>G (p.Leu1426Arg)
c.4280T>G (p.Leu1427Arg)
c.4196T>G (p.Leu1399Arg)
c.2729T>G (p.Leu910Arg)
c.3914T>G (p.Leu1305Arg)
c.3500T>G (p.Leu1167Arg)
c.4106T>G (p.Leu1369Arg)
c.4460T>G (p.Leu1487Arg)
2g.25742057A>GCA346073493ASXL2c.4277T>C (p.Leu1426Pro)
c.4280T>C (p.Leu1427Pro)
c.4196T>C (p.Leu1399Pro)
c.2729T>C (p.Leu910Pro)
c.3914T>C (p.Leu1305Pro)
c.3500T>C (p.Leu1167Pro)
c.4106T>C (p.Leu1369Pro)
c.4460T>C (p.Leu1487Pro)
dbSNP
2g.25742057A>TCA346073494ASXL2c.4277T>A (p.Leu1426Gln)
c.4280T>A (p.Leu1427Gln)
c.4196T>A (p.Leu1399Gln)
c.2729T>A (p.Leu910Gln)
c.3914T>A (p.Leu1305Gln)
c.3500T>A (p.Leu1167Gln)
c.4106T>A (p.Leu1369Gln)
c.4460T>A (p.Leu1487Gln)
2g.25742058G>ACA1557323ASXL2c.4276C>T (p.Leu1426=)
c.4279C>T (p.Leu1427=)
c.4195C>T (p.Leu1399=)
c.2728C>T (p.Leu910=)
c.3913C>T (p.Leu1305=)
c.3499C>T (p.Leu1167=)
c.4105C>T (p.Leu1369=)
c.4459C>T (p.Leu1487=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742058G>CCA346073496ASXL2c.4276C>G (p.Leu1426Val)
c.4279C>G (p.Leu1427Val)
c.4195C>G (p.Leu1399Val)
c.2728C>G (p.Leu910Val)
c.3913C>G (p.Leu1305Val)
c.3499C>G (p.Leu1167Val)
c.4105C>G (p.Leu1369Val)
c.4459C>G (p.Leu1487Val)
2g.25742058G=CA1239490314ASXL2c.4276C= (p.Leu1426=)
c.4279C= (p.Leu1427=)
c.4195C= (p.Leu1399=)
c.2728C= (p.Leu910=)
c.3913C= (p.Leu1305=)
c.3499C= (p.Leu1167=)
c.4105C= (p.Leu1369=)
c.4459C= (p.Leu1487=)
2g.25742058G>TCA346073495ASXL2c.4276C>A (p.Leu1426Met)
c.4279C>A (p.Leu1427Met)
c.4195C>A (p.Leu1399Met)
c.2728C>A (p.Leu910Met)
c.3913C>A (p.Leu1305Met)
c.3499C>A (p.Leu1167Met)
c.4105C>A (p.Leu1369Met)
c.4459C>A (p.Leu1487Met)
2g.25742059T>ACA346073498ASXL2c.4275A>T (p.Lys1425Asn)
c.4278A>T (p.Lys1426Asn)
c.4194A>T (p.Lys1398Asn)
c.2727A>T (p.Lys909Asn)
c.3912A>T (p.Lys1304Asn)
c.3498A>T (p.Lys1166Asn)
c.4104A>T (p.Lys1368Asn)
c.4458A>T (p.Lys1486Asn)
2g.25742059T>CCA425181254ASXL2c.4275A>G (p.Lys1425=)
c.4278A>G (p.Lys1426=)
c.4194A>G (p.Lys1398=)
c.2727A>G (p.Lys909=)
c.3912A>G (p.Lys1304=)
c.3498A>G (p.Lys1166=)
c.4104A>G (p.Lys1368=)
c.4458A>G (p.Lys1486=)
2g.25742059T>GCA346073497ASXL2c.4275A>C (p.Lys1425Asn)
c.4278A>C (p.Lys1426Asn)
c.4194A>C (p.Lys1398Asn)
c.2727A>C (p.Lys909Asn)
c.3912A>C (p.Lys1304Asn)
c.3498A>C (p.Lys1166Asn)
c.4104A>C (p.Lys1368Asn)
c.4458A>C (p.Lys1486Asn)
2g.25742060T>ACA346073499ASXL2c.4274A>T (p.Lys1425Ile)
c.4277A>T (p.Lys1426Ile)
c.4193A>T (p.Lys1398Ile)
c.2726A>T (p.Lys909Ile)
c.3911A>T (p.Lys1304Ile)
c.3497A>T (p.Lys1166Ile)
c.4103A>T (p.Lys1368Ile)
c.4457A>T (p.Lys1486Ile)
2g.25742060T>CCA346073500ASXL2c.4274A>G (p.Lys1425Arg)
c.4277A>G (p.Lys1426Arg)
c.4193A>G (p.Lys1398Arg)
c.2726A>G (p.Lys909Arg)
c.3911A>G (p.Lys1304Arg)
c.3497A>G (p.Lys1166Arg)
c.4103A>G (p.Lys1368Arg)
c.4457A>G (p.Lys1486Arg)
gnomAD v4
2g.25742060T>GCA346073501ASXL2c.4274A>C (p.Lys1425Thr)
c.4277A>C (p.Lys1426Thr)
c.4193A>C (p.Lys1398Thr)
c.2726A>C (p.Lys909Thr)
c.3911A>C (p.Lys1304Thr)
c.3497A>C (p.Lys1166Thr)
c.4103A>C (p.Lys1368Thr)
c.4457A>C (p.Lys1486Thr)
2g.25742061T>ACA346073502ASXL2c.4273A>T (p.Lys1425Ter)
c.4276A>T (p.Lys1426Ter)
c.4192A>T (p.Lys1398Ter)
c.2725A>T (p.Lys909Ter)
c.3910A>T (p.Lys1304Ter)
c.3496A>T (p.Lys1166Ter)
c.4102A>T (p.Lys1368Ter)
c.4456A>T (p.Lys1486Ter)
2g.25742061T>CCA346073503ASXL2c.4273A>G (p.Lys1425Glu)
c.4276A>G (p.Lys1426Glu)
c.4192A>G (p.Lys1398Glu)
c.2725A>G (p.Lys909Glu)
c.3910A>G (p.Lys1304Glu)
c.3496A>G (p.Lys1166Glu)
c.4102A>G (p.Lys1368Glu)
c.4456A>G (p.Lys1486Glu)
2g.25742061T>GCA346073504ASXL2c.4273A>C (p.Lys1425Gln)
c.4276A>C (p.Lys1426Gln)
c.4192A>C (p.Lys1398Gln)
c.2725A>C (p.Lys909Gln)
c.3910A>C (p.Lys1304Gln)
c.3496A>C (p.Lys1166Gln)
c.4102A>C (p.Lys1368Gln)
c.4456A>C (p.Lys1486Gln)
2g.25742062G>ACA425181255ASXL2c.4272C>T (p.Ser1424=)
c.4275C>T (p.Ser1425=)
c.4191C>T (p.Ser1397=)
c.2724C>T (p.Ser908=)
c.3909C>T (p.Ser1303=)
c.3495C>T (p.Ser1165=)
c.4101C>T (p.Ser1367=)
c.4455C>T (p.Ser1485=)
2g.25742062G>CCA425181256ASXL2c.4272C>G (p.Ser1424=)
c.4275C>G (p.Ser1425=)
c.4191C>G (p.Ser1397=)
c.2724C>G (p.Ser908=)
c.3909C>G (p.Ser1303=)
c.3495C>G (p.Ser1165=)
c.4101C>G (p.Ser1367=)
c.4455C>G (p.Ser1485=)
2g.25742062G>TCA425181257ASXL2c.4272C>A (p.Ser1424=)
c.4275C>A (p.Ser1425=)
c.4191C>A (p.Ser1397=)
c.2724C>A (p.Ser908=)
c.3909C>A (p.Ser1303=)
c.3495C>A (p.Ser1165=)
c.4101C>A (p.Ser1367=)
c.4455C>A (p.Ser1485=)
2g.25742063G>ACA346073505ASXL2c.4271C>T (p.Ser1424Phe)
c.4274C>T (p.Ser1425Phe)
c.4190C>T (p.Ser1397Phe)
c.2723C>T (p.Ser908Phe)
c.3908C>T (p.Ser1303Phe)
c.3494C>T (p.Ser1165Phe)
c.4100C>T (p.Ser1367Phe)
c.4454C>T (p.Ser1485Phe)
COSMIC COSMIC
2g.25742063G>CCA346073506ASXL2c.4271C>G (p.Ser1424Cys)
c.4274C>G (p.Ser1425Cys)
c.4190C>G (p.Ser1397Cys)
c.2723C>G (p.Ser908Cys)
c.3908C>G (p.Ser1303Cys)
c.3494C>G (p.Ser1165Cys)
c.4100C>G (p.Ser1367Cys)
c.4454C>G (p.Ser1485Cys)
2g.25742063G>TCA346073507ASXL2c.4271C>A (p.Ser1424Tyr)
c.4274C>A (p.Ser1425Tyr)
c.4190C>A (p.Ser1397Tyr)
c.2723C>A (p.Ser908Tyr)
c.3908C>A (p.Ser1303Tyr)
c.3494C>A (p.Ser1165Tyr)
c.4100C>A (p.Ser1367Tyr)
c.4454C>A (p.Ser1485Tyr)
2g.25742064A=CA1239490315ASXL2c.4270T= (p.Ser1424=)
c.4273T= (p.Ser1425=)
c.4189T= (p.Ser1397=)
c.2722T= (p.Ser908=)
c.3907T= (p.Ser1303=)
c.3493T= (p.Ser1165=)
c.4099T= (p.Ser1367=)
c.4453T= (p.Ser1485=)
2g.25742064A>CCA346073508ASXL2c.4270T>G (p.Ser1424Ala)
c.4273T>G (p.Ser1425Ala)
c.4189T>G (p.Ser1397Ala)
c.2722T>G (p.Ser908Ala)
c.3907T>G (p.Ser1303Ala)
c.3493T>G (p.Ser1165Ala)
c.4099T>G (p.Ser1367Ala)
c.4453T>G (p.Ser1485Ala)
2g.25742064A>GCA346073509ASXL2c.4270T>C (p.Ser1424Pro)
c.4273T>C (p.Ser1425Pro)
c.4189T>C (p.Ser1397Pro)
c.2722T>C (p.Ser908Pro)
c.3907T>C (p.Ser1303Pro)
c.3493T>C (p.Ser1165Pro)
c.4099T>C (p.Ser1367Pro)
c.4453T>C (p.Ser1485Pro)
2g.25742064A>TCA346073510ASXL2c.4270T>A (p.Ser1424Thr)
c.4273T>A (p.Ser1425Thr)
c.4189T>A (p.Ser1397Thr)
c.2722T>A (p.Ser908Thr)
c.3907T>A (p.Ser1303Thr)
c.3493T>A (p.Ser1165Thr)
c.4099T>A (p.Ser1367Thr)
c.4453T>A (p.Ser1485Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742065G>ACA425181258ASXL2c.4269C>T (p.Pro1423=)
c.4272C>T (p.Pro1424=)
c.4188C>T (p.Pro1396=)
c.2721C>T (p.Pro907=)
c.3906C>T (p.Pro1302=)
c.3492C>T (p.Pro1164=)
c.4098C>T (p.Pro1366=)
c.4452C>T (p.Pro1484=)
gnomAD v4
2g.25742065G>CCA425181259ASXL2c.4269C>G (p.Pro1423=)
c.4272C>G (p.Pro1424=)
c.4188C>G (p.Pro1396=)
c.2721C>G (p.Pro907=)
c.3906C>G (p.Pro1302=)
c.3492C>G (p.Pro1164=)
c.4098C>G (p.Pro1366=)
c.4452C>G (p.Pro1484=)
2g.25742065G>TCA425181260ASXL2c.4269C>A (p.Pro1423=)
c.4272C>A (p.Pro1424=)
c.4188C>A (p.Pro1396=)
c.2721C>A (p.Pro907=)
c.3906C>A (p.Pro1302=)
c.3492C>A (p.Pro1164=)
c.4098C>A (p.Pro1366=)
c.4452C>A (p.Pro1484=)
2g.25742066G>ACA346073511ASXL2c.4268C>T (p.Pro1423Leu)
c.4271C>T (p.Pro1424Leu)
c.4187C>T (p.Pro1396Leu)
c.2720C>T (p.Pro907Leu)
c.3905C>T (p.Pro1302Leu)
c.3491C>T (p.Pro1164Leu)
c.4097C>T (p.Pro1366Leu)
c.4451C>T (p.Pro1484Leu)
2g.25742066G>CCA346073513ASXL2c.4268C>G (p.Pro1423Arg)
c.4271C>G (p.Pro1424Arg)
c.4187C>G (p.Pro1396Arg)
c.2720C>G (p.Pro907Arg)
c.3905C>G (p.Pro1302Arg)
c.3491C>G (p.Pro1164Arg)
c.4097C>G (p.Pro1366Arg)
c.4451C>G (p.Pro1484Arg)
2g.25742066G>TCA346073512ASXL2c.4268C>A (p.Pro1423His)
c.4271C>A (p.Pro1424His)
c.4187C>A (p.Pro1396His)
c.2720C>A (p.Pro907His)
c.3905C>A (p.Pro1302His)
c.3491C>A (p.Pro1164His)
c.4097C>A (p.Pro1366His)
c.4451C>A (p.Pro1484His)
2g.25742067G>ACA346073514ASXL2c.4267C>T (p.Pro1423Ser)
c.4270C>T (p.Pro1424Ser)
c.4186C>T (p.Pro1396Ser)
c.2719C>T (p.Pro907Ser)
c.3904C>T (p.Pro1302Ser)
c.3490C>T (p.Pro1164Ser)
c.4096C>T (p.Pro1366Ser)
c.4450C>T (p.Pro1484Ser)
2g.25742067G>CCA346073515ASXL2c.4267C>G (p.Pro1423Ala)
c.4270C>G (p.Pro1424Ala)
c.4186C>G (p.Pro1396Ala)
c.2719C>G (p.Pro907Ala)
c.3904C>G (p.Pro1302Ala)
c.3490C>G (p.Pro1164Ala)
c.4096C>G (p.Pro1366Ala)
c.4450C>G (p.Pro1484Ala)
2g.25742067G>TCA346073516ASXL2c.4267C>A (p.Pro1423Thr)
c.4270C>A (p.Pro1424Thr)
c.4186C>A (p.Pro1396Thr)
c.2719C>A (p.Pro907Thr)
c.3904C>A (p.Pro1302Thr)
c.3490C>A (p.Pro1164Thr)
c.4096C>A (p.Pro1366Thr)
c.4450C>A (p.Pro1484Thr)
2g.25742067_25742068delinsAACA645532782ASXL2c.4266_4267delinsTT (p.Pro1423Ser)
c.4269_4270delinsTT (p.Pro1424Ser)
c.4185_4186delinsTT (p.Pro1396Ser)
c.2718_2719delinsTT (p.Pro907Ser)
c.3903_3904delinsTT (p.Pro1302Ser)
c.3489_3490delinsTT (p.Pro1164Ser)
c.4095_4096delinsTT (p.Pro1366Ser)
c.4449_4450delinsTT (p.Pro1484Ser)
COSMIC COSMIC
2g.25742068G>ACA425181263ASXL2c.4266C>T (p.Gly1422=)
c.4269C>T (p.Gly1423=)
c.4185C>T (p.Gly1395=)
c.2718C>T (p.Gly906=)
c.3903C>T (p.Gly1301=)
c.3489C>T (p.Gly1163=)
c.4095C>T (p.Gly1365=)
c.4449C>T (p.Gly1483=)
2g.25742068G>CCA425181261ASXL2c.4266C>G (p.Gly1422=)
c.4269C>G (p.Gly1423=)
c.4185C>G (p.Gly1395=)
c.2718C>G (p.Gly906=)
c.3903C>G (p.Gly1301=)
c.3489C>G (p.Gly1163=)
c.4095C>G (p.Gly1365=)
c.4449C>G (p.Gly1483=)
2g.25742068G>TCA425181262ASXL2c.4266C>A (p.Gly1422=)
c.4269C>A (p.Gly1423=)
c.4185C>A (p.Gly1395=)
c.2718C>A (p.Gly906=)
c.3903C>A (p.Gly1301=)
c.3489C>A (p.Gly1163=)
c.4095C>A (p.Gly1365=)
c.4449C>A (p.Gly1483=)
2g.25742069C>ACA346073517ASXL2c.4265G>T (p.Gly1422Val)
c.4268G>T (p.Gly1423Val)
c.4184G>T (p.Gly1395Val)
c.2717G>T (p.Gly906Val)
c.3902G>T (p.Gly1301Val)
c.3488G>T (p.Gly1163Val)
c.4094G>T (p.Gly1365Val)
c.4448G>T (p.Gly1483Val)
2g.25742069C>GCA346073518ASXL2c.4265G>C (p.Gly1422Ala)
c.4268G>C (p.Gly1423Ala)
c.4184G>C (p.Gly1395Ala)
c.2717G>C (p.Gly906Ala)
c.3902G>C (p.Gly1301Ala)
c.3488G>C (p.Gly1163Ala)
c.4094G>C (p.Gly1365Ala)
c.4448G>C (p.Gly1483Ala)
2g.25742069C>TCA346073519ASXL2c.4265G>A (p.Gly1422Asp)
c.4268G>A (p.Gly1423Asp)
c.4184G>A (p.Gly1395Asp)
c.2717G>A (p.Gly906Asp)
c.3902G>A (p.Gly1301Asp)
c.3488G>A (p.Gly1163Asp)
c.4094G>A (p.Gly1365Asp)
c.4448G>A (p.Gly1483Asp)
2g.25742070C>ACA346073520ASXL2c.4264G>T (p.Gly1422Cys)
c.4267G>T (p.Gly1423Cys)
c.4183G>T (p.Gly1395Cys)
c.2716G>T (p.Gly906Cys)
c.3901G>T (p.Gly1301Cys)
c.3487G>T (p.Gly1163Cys)
c.4093G>T (p.Gly1365Cys)
c.4447G>T (p.Gly1483Cys)
2g.25742070C=CA1239490316ASXL2c.4264G= (p.Gly1422=)
c.4267G= (p.Gly1423=)
c.4183G= (p.Gly1395=)
c.2716G= (p.Gly906=)
c.3901G= (p.Gly1301=)
c.3487G= (p.Gly1163=)
c.4093G= (p.Gly1365=)
c.4447G= (p.Gly1483=)
2g.25742070C>GCA346073521ASXL2c.4264G>C (p.Gly1422Arg)
c.4267G>C (p.Gly1423Arg)
c.4183G>C (p.Gly1395Arg)
c.2716G>C (p.Gly906Arg)
c.3901G>C (p.Gly1301Arg)
c.3487G>C (p.Gly1163Arg)
c.4093G>C (p.Gly1365Arg)
c.4447G>C (p.Gly1483Arg)
2g.25742070C>TCA1557324ASXL2c.4264G>A (p.Gly1422Ser)
c.4267G>A (p.Gly1423Ser)
c.4183G>A (p.Gly1395Ser)
c.2716G>A (p.Gly906Ser)
c.3901G>A (p.Gly1301Ser)
c.3487G>A (p.Gly1163Ser)
c.4093G>A (p.Gly1365Ser)
c.4447G>A (p.Gly1483Ser)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.25742071G>ACA1557325ASXL2c.4263C>T (p.Ile1421=)
c.4266C>T (p.Ile1422=)
c.4182C>T (p.Ile1394=)
c.2715C>T (p.Ile905=)
c.3900C>T (p.Ile1300=)
c.3486C>T (p.Ile1162=)
c.4092C>T (p.Ile1364=)
c.4446C>T (p.Ile1482=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.25742071G>CCA346073522ASXL2c.4263C>G (p.Ile1421Met)
c.4266C>G (p.Ile1422Met)
c.4182C>G (p.Ile1394Met)
c.2715C>G (p.Ile905Met)
c.3900C>G (p.Ile1300Met)
c.3486C>G (p.Ile1162Met)
c.4092C>G (p.Ile1364Met)
c.4446C>G (p.Ile1482Met)
2g.25742071G=CA1239490317ASXL2c.4263C= (p.Ile1421=)
c.4266C= (p.Ile1422=)
c.4182C= (p.Ile1394=)
c.2715C= (p.Ile905=)
c.3900C= (p.Ile1300=)
c.3486C= (p.Ile1162=)
c.4092C= (p.Ile1364=)
c.4446C= (p.Ile1482=)
2g.25742071G>TCA425181264ASXL2c.4263C>A (p.Ile1421=)
c.4266C>A (p.Ile1422=)
c.4182C>A (p.Ile1394=)
c.2715C>A (p.Ile905=)
c.3900C>A (p.Ile1300=)
c.3486C>A (p.Ile1162=)
c.4092C>A (p.Ile1364=)
c.4446C>A (p.Ile1482=)
2g.25742072A>CCA346073524ASXL2c.4262T>G (p.Ile1421Ser)
c.4265T>G (p.Ile1422Ser)
c.4181T>G (p.Ile1394Ser)
c.2714T>G (p.Ile905Ser)
c.3899T>G (p.Ile1300Ser)
c.3485T>G (p.Ile1162Ser)
c.4091T>G (p.Ile1364Ser)
c.4445T>G (p.Ile1482Ser)
gnomAD v4
2g.25742072A>GCA346073525ASXL2c.4262T>C (p.Ile1421Thr)
c.4265T>C (p.Ile1422Thr)
c.4181T>C (p.Ile1394Thr)
c.2714T>C (p.Ile905Thr)
c.3899T>C (p.Ile1300Thr)
c.3485T>C (p.Ile1162Thr)
c.4091T>C (p.Ile1364Thr)
c.4445T>C (p.Ile1482Thr)
2g.25742072A>TCA346073523ASXL2c.4262T>A (p.Ile1421Asn)
c.4265T>A (p.Ile1422Asn)
c.4181T>A (p.Ile1394Asn)
c.2714T>A (p.Ile905Asn)
c.3899T>A (p.Ile1300Asn)
c.3485T>A (p.Ile1162Asn)
c.4091T>A (p.Ile1364Asn)
c.4445T>A (p.Ile1482Asn)
2g.25742073T>ACA346073526ASXL2c.4261A>T (p.Ile1421Phe)
c.4264A>T (p.Ile1422Phe)
c.4180A>T (p.Ile1394Phe)
c.2713A>T (p.Ile905Phe)
c.3898A>T (p.Ile1300Phe)
c.3484A>T (p.Ile1162Phe)
c.4090A>T (p.Ile1364Phe)
c.4444A>T (p.Ile1482Phe)
2g.25742073T>CCA346073527ASXL2c.4261A>G (p.Ile1421Val)
c.4264A>G (p.Ile1422Val)
c.4180A>G (p.Ile1394Val)
c.2713A>G (p.Ile905Val)
c.3898A>G (p.Ile1300Val)
c.3484A>G (p.Ile1162Val)
c.4090A>G (p.Ile1364Val)
c.4444A>G (p.Ile1482Val)
gnomAD v4
2g.25742073T>GCA346073528ASXL2c.4261A>C (p.Ile1421Leu)
c.4264A>C (p.Ile1422Leu)
c.4180A>C (p.Ile1394Leu)
c.2713A>C (p.Ile905Leu)
c.3898A>C (p.Ile1300Leu)
c.3484A>C (p.Ile1162Leu)
c.4090A>C (p.Ile1364Leu)
c.4444A>C (p.Ile1482Leu)
2g.25742074G>ACA425181265ASXL2c.4260C>T (p.Cys1420=)
c.4263C>T (p.Cys1421=)
c.4179C>T (p.Cys1393=)
c.2712C>T (p.Cys904=)
c.3897C>T (p.Cys1299=)
c.3483C>T (p.Cys1161=)
c.4089C>T (p.Cys1363=)
c.4443C>T (p.Cys1481=)
2g.25742074G>CCA346073529ASXL2c.4260C>G (p.Cys1420Trp)
c.4263C>G (p.Cys1421Trp)
c.4179C>G (p.Cys1393Trp)
c.2712C>G (p.Cys904Trp)
c.3897C>G (p.Cys1299Trp)
c.3483C>G (p.Cys1161Trp)
c.4089C>G (p.Cys1363Trp)
c.4443C>G (p.Cys1481Trp)
2g.25742074G>TCA346073530ASXL2c.4260C>A (p.Cys1420Ter)
c.4263C>A (p.Cys1421Ter)
c.4179C>A (p.Cys1393Ter)
c.2712C>A (p.Cys904Ter)
c.3897C>A (p.Cys1299Ter)
c.3483C>A (p.Cys1161Ter)
c.4089C>A (p.Cys1363Ter)
c.4443C>A (p.Cys1481Ter)
2g.25742075C>ACA346073531ASXL2c.4259G>T (p.Cys1420Phe)
c.4262G>T (p.Cys1421Phe)
c.4178G>T (p.Cys1393Phe)
c.2711G>T (p.Cys904Phe)
c.3896G>T (p.Cys1299Phe)
c.3482G>T (p.Cys1161Phe)
c.4088G>T (p.Cys1363Phe)
c.4442G>T (p.Cys1481Phe)
2g.25742075C>GCA346073532ASXL2c.4259G>C (p.Cys1420Ser)
c.4262G>C (p.Cys1421Ser)
c.4178G>C (p.Cys1393Ser)
c.2711G>C (p.Cys904Ser)
c.3896G>C (p.Cys1299Ser)
c.3482G>C (p.Cys1161Ser)
c.4088G>C (p.Cys1363Ser)
c.4442G>C (p.Cys1481Ser)
ClinVar
2g.25742075C>TCA346073533ASXL2c.4259G>A (p.Cys1420Tyr)
c.4262G>A (p.Cys1421Tyr)
c.4178G>A (p.Cys1393Tyr)
c.2711G>A (p.Cys904Tyr)
c.3896G>A (p.Cys1299Tyr)
c.3482G>A (p.Cys1161Tyr)
c.4088G>A (p.Cys1363Tyr)
c.4442G>A (p.Cys1481Tyr)
2g.25742076A>CCA346073534ASXL2c.4258T>G (p.Cys1420Gly)
c.4261T>G (p.Cys1421Gly)
c.4177T>G (p.Cys1393Gly)
c.2710T>G (p.Cys904Gly)
c.3895T>G (p.Cys1299Gly)
c.3481T>G (p.Cys1161Gly)
c.4087T>G (p.Cys1363Gly)
c.4441T>G (p.Cys1481Gly)
2g.25742076A>GCA346073535ASXL2c.4258T>C (p.Cys1420Arg)
c.4261T>C (p.Cys1421Arg)
c.4177T>C (p.Cys1393Arg)
c.2710T>C (p.Cys904Arg)
c.3895T>C (p.Cys1299Arg)
c.3481T>C (p.Cys1161Arg)
c.4087T>C (p.Cys1363Arg)
c.4441T>C (p.Cys1481Arg)
2g.25742076A>TCA346073536ASXL2c.4258T>A (p.Cys1420Ser)
c.4261T>A (p.Cys1421Ser)
c.4177T>A (p.Cys1393Ser)
c.2710T>A (p.Cys904Ser)
c.3895T>A (p.Cys1299Ser)
c.3481T>A (p.Cys1161Ser)
c.4087T>A (p.Cys1363Ser)
c.4441T>A (p.Cys1481Ser)
2g.25742077A>CCA346073537ASXL2c.4257T>G (p.Asp1419Glu)
c.4260T>G (p.Asp1420Glu)
c.4176T>G (p.Asp1392Glu)
c.2709T>G (p.Asp903Glu)
c.3894T>G (p.Asp1298Glu)
c.3480T>G (p.Asp1160Glu)
c.4086T>G (p.Asp1362Glu)
c.4440T>G (p.Asp1480Glu)
2g.25742077A>GCA425181266ASXL2c.4257T>C (p.Asp1419=)
c.4260T>C (p.Asp1420=)
c.4176T>C (p.Asp1392=)
c.2709T>C (p.Asp903=)
c.3894T>C (p.Asp1298=)
c.3480T>C (p.Asp1160=)
c.4086T>C (p.Asp1362=)
c.4440T>C (p.Asp1480=)
2g.25742077A>TCA346073538ASXL2c.4257T>A (p.Asp1419Glu)
c.4260T>A (p.Asp1420Glu)
c.4176T>A (p.Asp1392Glu)
c.2709T>A (p.Asp903Glu)
c.3894T>A (p.Asp1298Glu)
c.3480T>A (p.Asp1160Glu)
c.4086T>A (p.Asp1362Glu)
c.4440T>A (p.Asp1480Glu)
2g.25742082_25742084delCA2658189292ASXL2c.4255_4257del (p.Asp1419del)
c.4258_4260del (p.Asp1420del)
c.4174_4176del (p.Asp1392del)
c.2707_2709del (p.Asp903del)
c.3892_3894del (p.Asp1298del)
c.3478_3480del (p.Asp1160del)
c.4084_4086del (p.Asp1362del)
c.4438_4440del (p.Asp1480del)
gnomAD v4
2g.25742078T>ACA346073540ASXL2c.4256A>T (p.Asp1419Val)
c.4259A>T (p.Asp1420Val)
c.4175A>T (p.Asp1392Val)
c.2708A>T (p.Asp903Val)
c.3893A>T (p.Asp1298Val)
c.3479A>T (p.Asp1160Val)
c.4085A>T (p.Asp1362Val)
c.4439A>T (p.Asp1480Val)
2g.25742078T>CCA346073541ASXL2c.4256A>G (p.Asp1419Gly)
c.4259A>G (p.Asp1420Gly)
c.4175A>G (p.Asp1392Gly)
c.2708A>G (p.Asp903Gly)
c.3893A>G (p.Asp1298Gly)
c.3479A>G (p.Asp1160Gly)
c.4085A>G (p.Asp1362Gly)
c.4439A>G (p.Asp1480Gly)
ClinVar gnomAD v4
2g.25742078T>GCA346073539ASXL2c.4256A>C (p.Asp1419Ala)
c.4259A>C (p.Asp1420Ala)
c.4175A>C (p.Asp1392Ala)
c.2708A>C (p.Asp903Ala)
c.3893A>C (p.Asp1298Ala)
c.3479A>C (p.Asp1160Ala)
c.4085A>C (p.Asp1362Ala)
c.4439A>C (p.Asp1480Ala)
2g.25742079C>ACA346073542ASXL2c.4255G>T (p.Asp1419Tyr)
c.4258G>T (p.Asp1420Tyr)
c.4174G>T (p.Asp1392Tyr)
c.2707G>T (p.Asp903Tyr)
c.3892G>T (p.Asp1298Tyr)
c.3478G>T (p.Asp1160Tyr)
c.4084G>T (p.Asp1362Tyr)
c.4438G>T (p.Asp1480Tyr)
2g.25742079C>GCA346073543ASXL2c.4255G>C (p.Asp1419His)
c.4258G>C (p.Asp1420His)
c.4174G>C (p.Asp1392His)
c.2707G>C (p.Asp903His)
c.3892G>C (p.Asp1298His)
c.3478G>C (p.Asp1160His)
c.4084G>C (p.Asp1362His)
c.4438G>C (p.Asp1480His)
2g.25742079C>TCA346073544ASXL2c.4255G>A (p.Asp1419Asn)
c.4258G>A (p.Asp1420Asn)
c.4174G>A (p.Asp1392Asn)
c.2707G>A (p.Asp903Asn)
c.3892G>A (p.Asp1298Asn)
c.3478G>A (p.Asp1160Asn)
c.4084G>A (p.Asp1362Asn)
c.4438G>A (p.Asp1480Asn)
2g.25742080A=CA1239490318ASXL2c.4254T= (p.Asp1418=)
c.4257T= (p.Asp1419=)
c.4173T= (p.Asp1391=)
c.2706T= (p.Asp902=)
c.3891T= (p.Asp1297=)
c.3477T= (p.Asp1159=)
c.4083T= (p.Asp1361=)
c.4437T= (p.Asp1479=)
2g.25742080A>CCA346073545ASXL2c.4254T>G (p.Asp1418Glu)
c.4257T>G (p.Asp1419Glu)
c.4173T>G (p.Asp1391Glu)
c.2706T>G (p.Asp902Glu)
c.3891T>G (p.Asp1297Glu)
c.3477T>G (p.Asp1159Glu)
c.4083T>G (p.Asp1361Glu)
c.4437T>G (p.Asp1479Glu)
2g.25742080A>GCA425181267ASXL2c.4254T>C (p.Asp1418=)
c.4257T>C (p.Asp1419=)
c.4173T>C (p.Asp1391=)
c.2706T>C (p.Asp902=)
c.3891T>C (p.Asp1297=)
c.3477T>C (p.Asp1159=)
c.4083T>C (p.Asp1361=)
c.4437T>C (p.Asp1479=)
ClinVar dbSNP
2g.25742080A>TCA346073546ASXL2c.4254T>A (p.Asp1418Glu)
c.4257T>A (p.Asp1419Glu)
c.4173T>A (p.Asp1391Glu)
c.2706T>A (p.Asp902Glu)
c.3891T>A (p.Asp1297Glu)
c.3477T>A (p.Asp1159Glu)
c.4083T>A (p.Asp1361Glu)
c.4437T>A (p.Asp1479Glu)
2g.25742081T>ACA346073549ASXL2c.4253A>T (p.Asp1418Val)
c.4256A>T (p.Asp1419Val)
c.4172A>T (p.Asp1391Val)
c.2705A>T (p.Asp902Val)
c.3890A>T (p.Asp1297Val)
c.3476A>T (p.Asp1159Val)
c.4082A>T (p.Asp1361Val)
c.4436A>T (p.Asp1479Val)
2g.25742081T>CCA346073548ASXL2c.4253A>G (p.Asp1418Gly)
c.4256A>G (p.Asp1419Gly)
c.4172A>G (p.Asp1391Gly)
c.2705A>G (p.Asp902Gly)
c.3890A>G (p.Asp1297Gly)
c.3476A>G (p.Asp1159Gly)
c.4082A>G (p.Asp1361Gly)
c.4436A>G (p.Asp1479Gly)
gnomAD v4
2g.25742081T>GCA346073547ASXL2c.4253A>C (p.Asp1418Ala)
c.4256A>C (p.Asp1419Ala)
c.4172A>C (p.Asp1391Ala)
c.2705A>C (p.Asp902Ala)
c.3890A>C (p.Asp1297Ala)
c.3476A>C (p.Asp1159Ala)
c.4082A>C (p.Asp1361Ala)
c.4436A>C (p.Asp1479Ala)
2g.25742082C>ACA346073550ASXL2c.4252G>T (p.Asp1418Tyr)
c.4255G>T (p.Asp1419Tyr)
c.4171G>T (p.Asp1391Tyr)
c.2704G>T (p.Asp902Tyr)
c.3889G>T (p.Asp1297Tyr)
c.3475G>T (p.Asp1159Tyr)
c.4081G>T (p.Asp1361Tyr)
c.4435G>T (p.Asp1479Tyr)
2g.25742082C>GCA346073551ASXL2c.4252G>C (p.Asp1418His)
c.4255G>C (p.Asp1419His)
c.4171G>C (p.Asp1391His)
c.2704G>C (p.Asp902His)
c.3889G>C (p.Asp1297His)
c.3475G>C (p.Asp1159His)
c.4081G>C (p.Asp1361His)
c.4435G>C (p.Asp1479His)
2g.25742082C>TCA346073552ASXL2c.4252G>A (p.Asp1418Asn)
c.4255G>A (p.Asp1419Asn)
c.4171G>A (p.Asp1391Asn)
c.2704G>A (p.Asp902Asn)
c.3889G>A (p.Asp1297Asn)
c.3475G>A (p.Asp1159Asn)
c.4081G>A (p.Asp1361Asn)
c.4435G>A (p.Asp1479Asn)
2g.25742083A=CA1239490319ASXL2c.4251T= (p.His1417=)
c.4254T= (p.His1418=)
c.4170T= (p.His1390=)
c.2703T= (p.His901=)
c.3888T= (p.His1296=)
c.3474T= (p.His1158=)
c.4080T= (p.His1360=)
c.4434T= (p.His1478=)
2g.25742083A>CCA346073553ASXL2c.4251T>G (p.His1417Gln)
c.4254T>G (p.His1418Gln)
c.4170T>G (p.His1390Gln)
c.2703T>G (p.His901Gln)
c.3888T>G (p.His1296Gln)
c.3474T>G (p.His1158Gln)
c.4080T>G (p.His1360Gln)
c.4434T>G (p.His1478Gln)
2g.25742083A>GCA43734131ASXL2c.4251T>C (p.His1417=)
c.4254T>C (p.His1418=)
c.4170T>C (p.His1390=)
c.2703T>C (p.His901=)
c.3888T>C (p.His1296=)
c.3474T>C (p.His1158=)
c.4080T>C (p.His1360=)
c.4434T>C (p.His1478=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742083A>TCA346073554ASXL2c.4251T>A (p.His1417Gln)
c.4254T>A (p.His1418Gln)
c.4170T>A (p.His1390Gln)
c.2703T>A (p.His901Gln)
c.3888T>A (p.His1296Gln)
c.3474T>A (p.His1158Gln)
c.4080T>A (p.His1360Gln)
c.4434T>A (p.His1478Gln)
2g.25742084T>ACA346073556ASXL2c.4250A>T (p.His1417Leu)
c.4253A>T (p.His1418Leu)
c.4169A>T (p.His1390Leu)
c.2702A>T (p.His901Leu)
c.3887A>T (p.His1296Leu)
c.3473A>T (p.His1158Leu)
c.4079A>T (p.His1360Leu)
c.4433A>T (p.His1478Leu)
2g.25742084T>CCA1557326ASXL2c.4250A>G (p.His1417Arg)
c.4253A>G (p.His1418Arg)
c.4169A>G (p.His1390Arg)
c.2702A>G (p.His901Arg)
c.3887A>G (p.His1296Arg)
c.3473A>G (p.His1158Arg)
c.4079A>G (p.His1360Arg)
c.4433A>G (p.His1478Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742084T>GCA346073555ASXL2c.4250A>C (p.His1417Pro)
c.4253A>C (p.His1418Pro)
c.4169A>C (p.His1390Pro)
c.2702A>C (p.His901Pro)
c.3887A>C (p.His1296Pro)
c.3473A>C (p.His1158Pro)
c.4079A>C (p.His1360Pro)
c.4433A>C (p.His1478Pro)
2g.25742084T=CA1239490320ASXL2c.4250A= (p.His1417=)
c.4253A= (p.His1418=)
c.4169A= (p.His1390=)
c.2702A= (p.His901=)
c.3887A= (p.His1296=)
c.3473A= (p.His1158=)
c.4079A= (p.His1360=)
c.4433A= (p.His1478=)
2g.25742085G>ACA346073557ASXL2c.4249C>T (p.His1417Tyr)
c.4252C>T (p.His1418Tyr)
c.4168C>T (p.His1390Tyr)
c.2701C>T (p.His901Tyr)
c.3886C>T (p.His1296Tyr)
c.3472C>T (p.His1158Tyr)
c.4078C>T (p.His1360Tyr)
c.4432C>T (p.His1478Tyr)
2g.25742085G>CCA346073559ASXL2c.4249C>G (p.His1417Asp)
c.4252C>G (p.His1418Asp)
c.4168C>G (p.His1390Asp)
c.2701C>G (p.His901Asp)
c.3886C>G (p.His1296Asp)
c.3472C>G (p.His1158Asp)
c.4078C>G (p.His1360Asp)
c.4432C>G (p.His1478Asp)
2g.25742085G>TCA346073558ASXL2c.4249C>A (p.His1417Asn)
c.4252C>A (p.His1418Asn)
c.4168C>A (p.His1390Asn)
c.2701C>A (p.His901Asn)
c.3886C>A (p.His1296Asn)
c.3472C>A (p.His1158Asn)
c.4078C>A (p.His1360Asn)
c.4432C>A (p.His1478Asn)
2g.25742086G>ACA425181270ASXL2c.4248C>T (p.Cys1416=)
c.4251C>T (p.Cys1417=)
c.4167C>T (p.Cys1389=)
c.2700C>T (p.Cys900=)
c.3885C>T (p.Cys1295=)
c.3471C>T (p.Cys1157=)
c.4077C>T (p.Cys1359=)
c.4431C>T (p.Cys1477=)
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.25742086G>CCA346073560ASXL2c.4248C>G (p.Cys1416Trp)
c.4251C>G (p.Cys1417Trp)
c.4167C>G (p.Cys1389Trp)
c.2700C>G (p.Cys900Trp)
c.3885C>G (p.Cys1295Trp)
c.3471C>G (p.Cys1157Trp)
c.4077C>G (p.Cys1359Trp)
c.4431C>G (p.Cys1477Trp)
2g.25742086G=CA1239490321ASXL2c.4248C= (p.Cys1416=)
c.4251C= (p.Cys1417=)
c.4167C= (p.Cys1389=)
c.2700C= (p.Cys900=)
c.3885C= (p.Cys1295=)
c.3471C= (p.Cys1157=)
c.4077C= (p.Cys1359=)
c.4431C= (p.Cys1477=)
2g.25742086G>TCA346073561ASXL2c.4248C>A (p.Cys1416Ter)
c.4251C>A (p.Cys1417Ter)
c.4167C>A (p.Cys1389Ter)
c.2700C>A (p.Cys900Ter)
c.3885C>A (p.Cys1295Ter)
c.3471C>A (p.Cys1157Ter)
c.4077C>A (p.Cys1359Ter)
c.4431C>A (p.Cys1477Ter)
2g.25742087C>ACA346073562ASXL2c.4247G>T (p.Cys1416Phe)
c.4250G>T (p.Cys1417Phe)
c.4166G>T (p.Cys1389Phe)
c.2699G>T (p.Cys900Phe)
c.3884G>T (p.Cys1295Phe)
c.3470G>T (p.Cys1157Phe)
c.4076G>T (p.Cys1359Phe)
c.4430G>T (p.Cys1477Phe)
2g.25742087C>GCA346073563ASXL2c.4247G>C (p.Cys1416Ser)
c.4250G>C (p.Cys1417Ser)
c.4166G>C (p.Cys1389Ser)
c.2699G>C (p.Cys900Ser)
c.3884G>C (p.Cys1295Ser)
c.3470G>C (p.Cys1157Ser)
c.4076G>C (p.Cys1359Ser)
c.4430G>C (p.Cys1477Ser)
2g.25742087C>TCA346073564ASXL2c.4247G>A (p.Cys1416Tyr)
c.4250G>A (p.Cys1417Tyr)
c.4166G>A (p.Cys1389Tyr)
c.2699G>A (p.Cys900Tyr)
c.3884G>A (p.Cys1295Tyr)
c.3470G>A (p.Cys1157Tyr)
c.4076G>A (p.Cys1359Tyr)
c.4430G>A (p.Cys1477Tyr)
2g.25742088A>CCA346073565ASXL2c.4246T>G (p.Cys1416Gly)
c.4249T>G (p.Cys1417Gly)
c.4165T>G (p.Cys1389Gly)
c.2698T>G (p.Cys900Gly)
c.3883T>G (p.Cys1295Gly)
c.3469T>G (p.Cys1157Gly)
c.4075T>G (p.Cys1359Gly)
c.4429T>G (p.Cys1477Gly)
2g.25742088A>GCA346073566ASXL2c.4246T>C (p.Cys1416Arg)
c.4249T>C (p.Cys1417Arg)
c.4165T>C (p.Cys1389Arg)
c.2698T>C (p.Cys900Arg)
c.3883T>C (p.Cys1295Arg)
c.3469T>C (p.Cys1157Arg)
c.4075T>C (p.Cys1359Arg)
c.4429T>C (p.Cys1477Arg)
2g.25742088A>TCA346073567ASXL2c.4246T>A (p.Cys1416Ser)
c.4249T>A (p.Cys1417Ser)
c.4165T>A (p.Cys1389Ser)
c.2698T>A (p.Cys900Ser)
c.3883T>A (p.Cys1295Ser)
c.3469T>A (p.Cys1157Ser)
c.4075T>A (p.Cys1359Ser)
c.4429T>A (p.Cys1477Ser)
2g.25742089G>ACA425181273ASXL2c.4245C>T (p.Phe1415=)
c.4248C>T (p.Phe1416=)
c.4164C>T (p.Phe1388=)
c.2697C>T (p.Phe899=)
c.3882C>T (p.Phe1294=)
c.3468C>T (p.Phe1156=)
c.4074C>T (p.Phe1358=)
c.4428C>T (p.Phe1476=)
2g.25742089G>CCA346073568ASXL2c.4245C>G (p.Phe1415Leu)
c.4248C>G (p.Phe1416Leu)
c.4164C>G (p.Phe1388Leu)
c.2697C>G (p.Phe899Leu)
c.3882C>G (p.Phe1294Leu)
c.3468C>G (p.Phe1156Leu)
c.4074C>G (p.Phe1358Leu)
c.4428C>G (p.Phe1476Leu)
2g.25742089G>TCA346073569ASXL2c.4245C>A (p.Phe1415Leu)
c.4248C>A (p.Phe1416Leu)
c.4164C>A (p.Phe1388Leu)
c.2697C>A (p.Phe899Leu)
c.3882C>A (p.Phe1294Leu)
c.3468C>A (p.Phe1156Leu)
c.4074C>A (p.Phe1358Leu)
c.4428C>A (p.Phe1476Leu)
2g.25742090A>CCA346073570ASXL2c.4244T>G (p.Phe1415Cys)
c.4247T>G (p.Phe1416Cys)
c.4163T>G (p.Phe1388Cys)
c.2696T>G (p.Phe899Cys)
c.3881T>G (p.Phe1294Cys)
c.3467T>G (p.Phe1156Cys)
c.4073T>G (p.Phe1358Cys)
c.4427T>G (p.Phe1476Cys)
2g.25742090A>GCA346073571ASXL2c.4244T>C (p.Phe1415Ser)
c.4247T>C (p.Phe1416Ser)
c.4163T>C (p.Phe1388Ser)
c.2696T>C (p.Phe899Ser)
c.3881T>C (p.Phe1294Ser)
c.3467T>C (p.Phe1156Ser)
c.4073T>C (p.Phe1358Ser)
c.4427T>C (p.Phe1476Ser)
2g.25742090A>TCA346073572ASXL2c.4244T>A (p.Phe1415Tyr)
c.4247T>A (p.Phe1416Tyr)
c.4163T>A (p.Phe1388Tyr)
c.2696T>A (p.Phe899Tyr)
c.3881T>A (p.Phe1294Tyr)
c.3467T>A (p.Phe1156Tyr)
c.4073T>A (p.Phe1358Tyr)
c.4427T>A (p.Phe1476Tyr)
2g.25742091A>CCA346073573ASXL2c.4243T>G (p.Phe1415Val)
c.4246T>G (p.Phe1416Val)
c.4162T>G (p.Phe1388Val)
c.2695T>G (p.Phe899Val)
c.3880T>G (p.Phe1294Val)
c.3466T>G (p.Phe1156Val)
c.4072T>G (p.Phe1358Val)
c.4426T>G (p.Phe1476Val)
2g.25742091A>GCA346073575ASXL2c.4243T>C (p.Phe1415Leu)
c.4246T>C (p.Phe1416Leu)
c.4162T>C (p.Phe1388Leu)
c.2695T>C (p.Phe899Leu)
c.3880T>C (p.Phe1294Leu)
c.3466T>C (p.Phe1156Leu)
c.4072T>C (p.Phe1358Leu)
c.4426T>C (p.Phe1476Leu)
2g.25742091A>TCA346073574ASXL2c.4243T>A (p.Phe1415Ile)
c.4246T>A (p.Phe1416Ile)
c.4162T>A (p.Phe1388Ile)
c.2695T>A (p.Phe899Ile)
c.3880T>A (p.Phe1294Ile)
c.3466T>A (p.Phe1156Ile)
c.4072T>A (p.Phe1358Ile)
c.4426T>A (p.Phe1476Ile)
2g.25742092A=CA1239490322ASXL2c.4242T= (p.Ala1414=)
c.4245T= (p.Ala1415=)
c.4161T= (p.Ala1387=)
c.2694T= (p.Ala898=)
c.3879T= (p.Ala1293=)
c.3465T= (p.Ala1155=)
c.4071T= (p.Ala1357=)
c.4425T= (p.Ala1475=)
2g.25742092A>CCA1557329ASXL2c.4242T>G (p.Ala1414=)
c.4245T>G (p.Ala1415=)
c.4161T>G (p.Ala1387=)
c.2694T>G (p.Ala898=)
c.3879T>G (p.Ala1293=)
c.3465T>G (p.Ala1155=)
c.4071T>G (p.Ala1357=)
c.4425T>G (p.Ala1475=)
dbSNP ExAC gnomAD v2
2g.25742092A>GCA1557327ASXL2c.4242T>C (p.Ala1414=)
c.4245T>C (p.Ala1415=)
c.4161T>C (p.Ala1387=)
c.2694T>C (p.Ala898=)
c.3879T>C (p.Ala1293=)
c.3465T>C (p.Ala1155=)
c.4071T>C (p.Ala1357=)
c.4425T>C (p.Ala1475=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742092A>TCA1557328ASXL2c.4242T>A (p.Ala1414=)
c.4245T>A (p.Ala1415=)
c.4161T>A (p.Ala1387=)
c.2694T>A (p.Ala898=)
c.3879T>A (p.Ala1293=)
c.3465T>A (p.Ala1155=)
c.4071T>A (p.Ala1357=)
c.4425T>A (p.Ala1475=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742093G>ACA43734139ASXL2c.4241C>T (p.Ala1414Val)
c.4244C>T (p.Ala1415Val)
c.4160C>T (p.Ala1387Val)
c.2693C>T (p.Ala898Val)
c.3878C>T (p.Ala1293Val)
c.3464C>T (p.Ala1155Val)
c.4070C>T (p.Ala1357Val)
c.4424C>T (p.Ala1475Val)
dbSNP gnomAD v3 gnomAD v4
2g.25742093G>CCA346073576ASXL2c.4241C>G (p.Ala1414Gly)
c.4244C>G (p.Ala1415Gly)
c.4160C>G (p.Ala1387Gly)
c.2693C>G (p.Ala898Gly)
c.3878C>G (p.Ala1293Gly)
c.3464C>G (p.Ala1155Gly)
c.4070C>G (p.Ala1357Gly)
c.4424C>G (p.Ala1475Gly)
2g.25742093G=CA1239490323ASXL2c.4241C= (p.Ala1414=)
c.4244C= (p.Ala1415=)
c.4160C= (p.Ala1387=)
c.2693C= (p.Ala898=)
c.3878C= (p.Ala1293=)
c.3464C= (p.Ala1155=)
c.4070C= (p.Ala1357=)
c.4424C= (p.Ala1475=)
2g.25742093G>TCA346073577ASXL2c.4241C>A (p.Ala1414Asp)
c.4244C>A (p.Ala1415Asp)
c.4160C>A (p.Ala1387Asp)
c.2693C>A (p.Ala898Asp)
c.3878C>A (p.Ala1293Asp)
c.3464C>A (p.Ala1155Asp)
c.4070C>A (p.Ala1357Asp)
c.4424C>A (p.Ala1475Asp)
2g.25742094C>ACA346073578ASXL2c.4240G>T (p.Ala1414Ser)
c.4243G>T (p.Ala1415Ser)
c.4159G>T (p.Ala1387Ser)
c.2692G>T (p.Ala898Ser)
c.3877G>T (p.Ala1293Ser)
c.3463G>T (p.Ala1155Ser)
c.4069G>T (p.Ala1357Ser)
c.4423G>T (p.Ala1475Ser)
2g.25742094C=CA1239490324ASXL2c.4240G= (p.Ala1414=)
c.4243G= (p.Ala1415=)
c.4159G= (p.Ala1387=)
c.2692G= (p.Ala898=)
c.3877G= (p.Ala1293=)
c.3463G= (p.Ala1155=)
c.4069G= (p.Ala1357=)
c.4423G= (p.Ala1475=)
2g.25742094C>GCA346073579ASXL2c.4240G>C (p.Ala1414Pro)
c.4243G>C (p.Ala1415Pro)
c.4159G>C (p.Ala1387Pro)
c.2692G>C (p.Ala898Pro)
c.3877G>C (p.Ala1293Pro)
c.3463G>C (p.Ala1155Pro)
c.4069G>C (p.Ala1357Pro)
c.4423G>C (p.Ala1475Pro)
2g.25742094C>TCA1557330ASXL2c.4240G>A (p.Ala1414Thr)
c.4243G>A (p.Ala1415Thr)
c.4159G>A (p.Ala1387Thr)
c.2692G>A (p.Ala898Thr)
c.3877G>A (p.Ala1293Thr)
c.3463G>A (p.Ala1155Thr)
c.4069G>A (p.Ala1357Thr)
c.4423G>A (p.Ala1475Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742095G>ACA1557331ASXL2c.4239C>T (p.Gly1413=)
c.4242C>T (p.Gly1414=)
c.4158C>T (p.Gly1386=)
c.2691C>T (p.Gly897=)
c.3876C>T (p.Gly1292=)
c.3462C>T (p.Gly1154=)
c.4068C>T (p.Gly1356=)
c.4422C>T (p.Gly1474=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742095G>CCA425181281ASXL2c.4239C>G (p.Gly1413=)
c.4242C>G (p.Gly1414=)
c.4158C>G (p.Gly1386=)
c.2691C>G (p.Gly897=)
c.3876C>G (p.Gly1292=)
c.3462C>G (p.Gly1154=)
c.4068C>G (p.Gly1356=)
c.4422C>G (p.Gly1474=)
2g.25742095G=CA1239490325ASXL2c.4239C= (p.Gly1413=)
c.4242C= (p.Gly1414=)
c.4158C= (p.Gly1386=)
c.2691C= (p.Gly897=)
c.3876C= (p.Gly1292=)
c.3462C= (p.Gly1154=)
c.4068C= (p.Gly1356=)
c.4422C= (p.Gly1474=)
2g.25742095G>TCA425181279ASXL2c.4239C>A (p.Gly1413=)
c.4242C>A (p.Gly1414=)
c.4158C>A (p.Gly1386=)
c.2691C>A (p.Gly897=)
c.3876C>A (p.Gly1292=)
c.3462C>A (p.Gly1154=)
c.4068C>A (p.Gly1356=)
c.4422C>A (p.Gly1474=)
2g.25742096C>ACA346073582ASXL2c.4238G>T (p.Gly1413Val)
c.4241G>T (p.Gly1414Val)
c.4157G>T (p.Gly1386Val)
c.2690G>T (p.Gly897Val)
c.3875G>T (p.Gly1292Val)
c.3461G>T (p.Gly1154Val)
c.4067G>T (p.Gly1356Val)
c.4421G>T (p.Gly1474Val)
2g.25742096C>GCA346073581ASXL2c.4238G>C (p.Gly1413Ala)
c.4241G>C (p.Gly1414Ala)
c.4157G>C (p.Gly1386Ala)
c.2690G>C (p.Gly897Ala)
c.3875G>C (p.Gly1292Ala)
c.3461G>C (p.Gly1154Ala)
c.4067G>C (p.Gly1356Ala)
c.4421G>C (p.Gly1474Ala)
2g.25742096C>TCA346073580ASXL2c.4238G>A (p.Gly1413Asp)
c.4241G>A (p.Gly1414Asp)
c.4157G>A (p.Gly1386Asp)
c.2690G>A (p.Gly897Asp)
c.3875G>A (p.Gly1292Asp)
c.3461G>A (p.Gly1154Asp)
c.4067G>A (p.Gly1356Asp)
c.4421G>A (p.Gly1474Asp)
2g.25742097C>ACA346073585ASXL2c.4237G>T (p.Gly1413Cys)
c.4240G>T (p.Gly1414Cys)
c.4156G>T (p.Gly1386Cys)
c.2689G>T (p.Gly897Cys)
c.3874G>T (p.Gly1292Cys)
c.3460G>T (p.Gly1154Cys)
c.4066G>T (p.Gly1356Cys)
c.4420G>T (p.Gly1474Cys)
2g.25742097C>GCA346073583ASXL2c.4237G>C (p.Gly1413Arg)
c.4240G>C (p.Gly1414Arg)
c.4156G>C (p.Gly1386Arg)
c.2689G>C (p.Gly897Arg)
c.3874G>C (p.Gly1292Arg)
c.3460G>C (p.Gly1154Arg)
c.4066G>C (p.Gly1356Arg)
c.4420G>C (p.Gly1474Arg)
2g.25742097C>TCA346073584ASXL2c.4237G>A (p.Gly1413Ser)
c.4240G>A (p.Gly1414Ser)
c.4156G>A (p.Gly1386Ser)
c.2689G>A (p.Gly897Ser)
c.3874G>A (p.Gly1292Ser)
c.3460G>A (p.Gly1154Ser)
c.4066G>A (p.Gly1356Ser)
c.4420G>A (p.Gly1474Ser)
2g.25742098A>CCA346073586ASXL2c.4236T>G (p.Cys1412Trp)
c.4239T>G (p.Cys1413Trp)
c.4155T>G (p.Cys1385Trp)
c.2688T>G (p.Cys896Trp)
c.3873T>G (p.Cys1291Trp)
c.3459T>G (p.Cys1153Trp)
c.4065T>G (p.Cys1355Trp)
c.4419T>G (p.Cys1473Trp)
2g.25742098A>GCA425181283ASXL2c.4236T>C (p.Cys1412=)
c.4239T>C (p.Cys1413=)
c.4155T>C (p.Cys1385=)
c.2688T>C (p.Cys896=)
c.3873T>C (p.Cys1291=)
c.3459T>C (p.Cys1153=)
c.4065T>C (p.Cys1355=)
c.4419T>C (p.Cys1473=)
2g.25742098A>TCA346073587ASXL2c.4236T>A (p.Cys1412Ter)
c.4239T>A (p.Cys1413Ter)
c.4155T>A (p.Cys1385Ter)
c.2688T>A (p.Cys896Ter)
c.3873T>A (p.Cys1291Ter)
c.3459T>A (p.Cys1153Ter)
c.4065T>A (p.Cys1355Ter)
c.4419T>A (p.Cys1473Ter)
2g.25742099C>ACA346073588ASXL2c.4235G>T (p.Cys1412Phe)
c.4238G>T (p.Cys1413Phe)
c.4154G>T (p.Cys1385Phe)
c.2687G>T (p.Cys896Phe)
c.3872G>T (p.Cys1291Phe)
c.3458G>T (p.Cys1153Phe)
c.4064G>T (p.Cys1355Phe)
c.4418G>T (p.Cys1473Phe)
2g.25742099C>GCA346073589ASXL2c.4235G>C (p.Cys1412Ser)
c.4238G>C (p.Cys1413Ser)
c.4154G>C (p.Cys1385Ser)
c.2687G>C (p.Cys896Ser)
c.3872G>C (p.Cys1291Ser)
c.3458G>C (p.Cys1153Ser)
c.4064G>C (p.Cys1355Ser)
c.4418G>C (p.Cys1473Ser)
2g.25742099C>TCA346073590ASXL2c.4235G>A (p.Cys1412Tyr)
c.4238G>A (p.Cys1413Tyr)
c.4154G>A (p.Cys1385Tyr)
c.2687G>A (p.Cys896Tyr)
c.3872G>A (p.Cys1291Tyr)
c.3458G>A (p.Cys1153Tyr)
c.4064G>A (p.Cys1355Tyr)
c.4418G>A (p.Cys1473Tyr)
2g.25742100A>CCA346073591ASXL2c.4234T>G (p.Cys1412Gly)
c.4237T>G (p.Cys1413Gly)
c.4153T>G (p.Cys1385Gly)
c.2686T>G (p.Cys896Gly)
c.3871T>G (p.Cys1291Gly)
c.3457T>G (p.Cys1153Gly)
c.4063T>G (p.Cys1355Gly)
c.4417T>G (p.Cys1473Gly)
2g.25742100A>GCA346073592ASXL2c.4234T>C (p.Cys1412Arg)
c.4237T>C (p.Cys1413Arg)
c.4153T>C (p.Cys1385Arg)
c.2686T>C (p.Cys896Arg)
c.3871T>C (p.Cys1291Arg)
c.3457T>C (p.Cys1153Arg)
c.4063T>C (p.Cys1355Arg)
c.4417T>C (p.Cys1473Arg)
2g.25742100A>TCA346073593ASXL2c.4234T>A (p.Cys1412Ser)
c.4237T>A (p.Cys1413Ser)
c.4153T>A (p.Cys1385Ser)
c.2686T>A (p.Cys896Ser)
c.3871T>A (p.Cys1291Ser)
c.3457T>A (p.Cys1153Ser)
c.4063T>A (p.Cys1355Ser)
c.4417T>A (p.Cys1473Ser)
2g.25742101G>ACA425181284ASXL2c.4233C>T (p.Gly1411=)
c.4236C>T (p.Gly1412=)
c.4152C>T (p.Gly1384=)
c.2685C>T (p.Gly895=)
c.3870C>T (p.Gly1290=)
c.3456C>T (p.Gly1152=)
c.4062C>T (p.Gly1354=)
c.4416C>T (p.Gly1472=)
dbSNP gnomAD v3 gnomAD v4
2g.25742101G>CCA425181285ASXL2c.4233C>G (p.Gly1411=)
c.4236C>G (p.Gly1412=)
c.4152C>G (p.Gly1384=)
c.2685C>G (p.Gly895=)
c.3870C>G (p.Gly1290=)
c.3456C>G (p.Gly1152=)
c.4062C>G (p.Gly1354=)
c.4416C>G (p.Gly1472=)
2g.25742101G=CA1239490326ASXL2c.4233C= (p.Gly1411=)
c.4236C= (p.Gly1412=)
c.4152C= (p.Gly1384=)
c.2685C= (p.Gly895=)
c.3870C= (p.Gly1290=)
c.3456C= (p.Gly1152=)
c.4062C= (p.Gly1354=)
c.4416C= (p.Gly1472=)
2g.25742101G>TCA425181286ASXL2c.4233C>A (p.Gly1411=)
c.4236C>A (p.Gly1412=)
c.4152C>A (p.Gly1384=)
c.2685C>A (p.Gly895=)
c.3870C>A (p.Gly1290=)
c.3456C>A (p.Gly1152=)
c.4062C>A (p.Gly1354=)
c.4416C>A (p.Gly1472=)
2g.25742102C>ACA346073594ASXL2c.4232G>T (p.Gly1411Val)
c.4235G>T (p.Gly1412Val)
c.4151G>T (p.Gly1384Val)
c.2684G>T (p.Gly895Val)
c.3869G>T (p.Gly1290Val)
c.3455G>T (p.Gly1152Val)
c.4061G>T (p.Gly1354Val)
c.4415G>T (p.Gly1472Val)
2g.25742102C>GCA346073595ASXL2c.4232G>C (p.Gly1411Ala)
c.4235G>C (p.Gly1412Ala)
c.4151G>C (p.Gly1384Ala)
c.2684G>C (p.Gly895Ala)
c.3869G>C (p.Gly1290Ala)
c.3455G>C (p.Gly1152Ala)
c.4061G>C (p.Gly1354Ala)
c.4415G>C (p.Gly1472Ala)
2g.25742102C>TCA346073596ASXL2c.4232G>A (p.Gly1411Asp)
c.4235G>A (p.Gly1412Asp)
c.4151G>A (p.Gly1384Asp)
c.2684G>A (p.Gly895Asp)
c.3869G>A (p.Gly1290Asp)
c.3455G>A (p.Gly1152Asp)
c.4061G>A (p.Gly1354Asp)
c.4415G>A (p.Gly1472Asp)
2g.25742103C>ACA346073599ASXL2c.4231G>T (p.Gly1411Cys)
c.4234G>T (p.Gly1412Cys)
c.4150G>T (p.Gly1384Cys)
c.2683G>T (p.Gly895Cys)
c.3868G>T (p.Gly1290Cys)
c.3454G>T (p.Gly1152Cys)
c.4060G>T (p.Gly1354Cys)
c.4414G>T (p.Gly1472Cys)
2g.25742103C=CA1239490327ASXL2c.4231G= (p.Gly1411=)
c.4234G= (p.Gly1412=)
c.4150G= (p.Gly1384=)
c.2683G= (p.Gly895=)
c.3868G= (p.Gly1290=)
c.3454G= (p.Gly1152=)
c.4060G= (p.Gly1354=)
c.4414G= (p.Gly1472=)
2g.25742103C>GCA346073597ASXL2c.4231G>C (p.Gly1411Arg)
c.4234G>C (p.Gly1412Arg)
c.4150G>C (p.Gly1384Arg)
c.2683G>C (p.Gly895Arg)
c.3868G>C (p.Gly1290Arg)
c.3454G>C (p.Gly1152Arg)
c.4060G>C (p.Gly1354Arg)
c.4414G>C (p.Gly1472Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.25742103C>TCA346073598ASXL2c.4231G>A (p.Gly1411Ser)
c.4234G>A (p.Gly1412Ser)
c.4150G>A (p.Gly1384Ser)
c.2683G>A (p.Gly895Ser)
c.3868G>A (p.Gly1290Ser)
c.3454G>A (p.Gly1152Ser)
c.4060G>A (p.Gly1354Ser)
c.4414G>A (p.Gly1472Ser)
COSMIC COSMIC
2g.25742104T>ACA346073600ASXL2c.4230A>T (p.Lys1410Asn)
c.4233A>T (p.Lys1411Asn)
c.4149A>T (p.Lys1383Asn)
c.2682A>T (p.Lys894Asn)
c.3867A>T (p.Lys1289Asn)
c.3453A>T (p.Lys1151Asn)
c.4059A>T (p.Lys1353Asn)
c.4413A>T (p.Lys1471Asn)
2g.25742104T>CCA425181292ASXL2c.4230A>G (p.Lys1410=)
c.4233A>G (p.Lys1411=)
c.4149A>G (p.Lys1383=)
c.2682A>G (p.Lys894=)
c.3867A>G (p.Lys1289=)
c.3453A>G (p.Lys1151=)
c.4059A>G (p.Lys1353=)
c.4413A>G (p.Lys1471=)
2g.25742104T>GCA346073601ASXL2c.4230A>C (p.Lys1410Asn)
c.4233A>C (p.Lys1411Asn)
c.4149A>C (p.Lys1383Asn)
c.2682A>C (p.Lys894Asn)
c.3867A>C (p.Lys1289Asn)
c.3453A>C (p.Lys1151Asn)
c.4059A>C (p.Lys1353Asn)
c.4413A>C (p.Lys1471Asn)
2g.25742105T>ACA346073602ASXL2c.4229A>T (p.Lys1410Ile)
c.4232A>T (p.Lys1411Ile)
c.4148A>T (p.Lys1383Ile)
c.2681A>T (p.Lys894Ile)
c.3866A>T (p.Lys1289Ile)
c.3452A>T (p.Lys1151Ile)
c.4058A>T (p.Lys1353Ile)
c.4412A>T (p.Lys1471Ile)
ClinVar
2g.25742105T>CCA346073603ASXL2c.4229A>G (p.Lys1410Arg)
c.4232A>G (p.Lys1411Arg)
c.4148A>G (p.Lys1383Arg)
c.2681A>G (p.Lys894Arg)
c.3866A>G (p.Lys1289Arg)
c.3452A>G (p.Lys1151Arg)
c.4058A>G (p.Lys1353Arg)
c.4412A>G (p.Lys1471Arg)
ClinVar gnomAD v4
2g.25742105T>GCA346073604ASXL2c.4229A>C (p.Lys1410Thr)
c.4232A>C (p.Lys1411Thr)
c.4148A>C (p.Lys1383Thr)
c.2681A>C (p.Lys894Thr)
c.3866A>C (p.Lys1289Thr)
c.3452A>C (p.Lys1151Thr)
c.4058A>C (p.Lys1353Thr)
c.4412A>C (p.Lys1471Thr)
2g.25742106T>ACA346073605ASXL2c.4228A>T (p.Lys1410Ter)
c.4231A>T (p.Lys1411Ter)
c.4147A>T (p.Lys1383Ter)
c.2680A>T (p.Lys894Ter)
c.3865A>T (p.Lys1289Ter)
c.3451A>T (p.Lys1151Ter)
c.4057A>T (p.Lys1353Ter)
c.4411A>T (p.Lys1471Ter)
2g.25742106T>CCA346073606ASXL2c.4228A>G (p.Lys1410Glu)
c.4231A>G (p.Lys1411Glu)
c.4147A>G (p.Lys1383Glu)
c.2680A>G (p.Lys894Glu)
c.3865A>G (p.Lys1289Glu)
c.3451A>G (p.Lys1151Glu)
c.4057A>G (p.Lys1353Glu)
c.4411A>G (p.Lys1471Glu)
2g.25742106T>GCA346073607ASXL2c.4228A>C (p.Lys1410Gln)
c.4231A>C (p.Lys1411Gln)
c.4147A>C (p.Lys1383Gln)
c.2680A>C (p.Lys894Gln)
c.3865A>C (p.Lys1289Gln)
c.3451A>C (p.Lys1151Gln)
c.4057A>C (p.Lys1353Gln)
c.4411A>C (p.Lys1471Gln)
2g.25742107G>ACA425181294ASXL2c.4227C>T (p.Cys1409=)
c.4230C>T (p.Cys1410=)
c.4146C>T (p.Cys1382=)
c.2679C>T (p.Cys893=)
c.3864C>T (p.Cys1288=)
c.3450C>T (p.Cys1150=)
c.4056C>T (p.Cys1352=)
c.4410C>T (p.Cys1470=)
2g.25742107G>CCA346073608ASXL2c.4227C>G (p.Cys1409Trp)
c.4230C>G (p.Cys1410Trp)
c.4146C>G (p.Cys1382Trp)
c.2679C>G (p.Cys893Trp)
c.3864C>G (p.Cys1288Trp)
c.3450C>G (p.Cys1150Trp)
c.4056C>G (p.Cys1352Trp)
c.4410C>G (p.Cys1470Trp)
2g.25742107G>TCA346073609ASXL2c.4227C>A (p.Cys1409Ter)
c.4230C>A (p.Cys1410Ter)
c.4146C>A (p.Cys1382Ter)
c.2679C>A (p.Cys893Ter)
c.3864C>A (p.Cys1288Ter)
c.3450C>A (p.Cys1150Ter)
c.4056C>A (p.Cys1352Ter)
c.4410C>A (p.Cys1470Ter)
COSMIC COSMIC
2g.25742108C>ACA346073610ASXL2c.4226G>T (p.Cys1409Phe)
c.4229G>T (p.Cys1410Phe)
c.4145G>T (p.Cys1382Phe)
c.2678G>T (p.Cys893Phe)
c.3863G>T (p.Cys1288Phe)
c.3449G>T (p.Cys1150Phe)
c.4055G>T (p.Cys1352Phe)
c.4409G>T (p.Cys1470Phe)
2g.25742108C>GCA346073611ASXL2c.4226G>C (p.Cys1409Ser)
c.4229G>C (p.Cys1410Ser)
c.4145G>C (p.Cys1382Ser)
c.2678G>C (p.Cys893Ser)
c.3863G>C (p.Cys1288Ser)
c.3449G>C (p.Cys1150Ser)
c.4055G>C (p.Cys1352Ser)
c.4409G>C (p.Cys1470Ser)
2g.25742108C>TCA346073612ASXL2c.4226G>A (p.Cys1409Tyr)
c.4229G>A (p.Cys1410Tyr)
c.4145G>A (p.Cys1382Tyr)
c.2678G>A (p.Cys893Tyr)
c.3863G>A (p.Cys1288Tyr)
c.3449G>A (p.Cys1150Tyr)
c.4055G>A (p.Cys1352Tyr)
c.4409G>A (p.Cys1470Tyr)
2g.25742109A=CA1239490328ASXL2c.4225T= (p.Cys1409=)
c.4228T= (p.Cys1410=)
c.4144T= (p.Cys1382=)
c.2677T= (p.Cys893=)
c.3862T= (p.Cys1288=)
c.3448T= (p.Cys1150=)
c.4054T= (p.Cys1352=)
c.4408T= (p.Cys1470=)
2g.25742109A>CCA346073615ASXL2c.4225T>G (p.Cys1409Gly)
c.4228T>G (p.Cys1410Gly)
c.4144T>G (p.Cys1382Gly)
c.2677T>G (p.Cys893Gly)
c.3862T>G (p.Cys1288Gly)
c.3448T>G (p.Cys1150Gly)
c.4054T>G (p.Cys1352Gly)
c.4408T>G (p.Cys1470Gly)
ClinVar dbSNP
2g.25742109A>GCA346073614ASXL2c.4225T>C (p.Cys1409Arg)
c.4228T>C (p.Cys1410Arg)
c.4144T>C (p.Cys1382Arg)
c.2677T>C (p.Cys893Arg)
c.3862T>C (p.Cys1288Arg)
c.3448T>C (p.Cys1150Arg)
c.4054T>C (p.Cys1352Arg)
c.4408T>C (p.Cys1470Arg)
2g.25742109A>TCA346073613ASXL2c.4225T>A (p.Cys1409Ser)
c.4228T>A (p.Cys1410Ser)
c.4144T>A (p.Cys1382Ser)
c.2677T>A (p.Cys893Ser)
c.3862T>A (p.Cys1288Ser)
c.3448T>A (p.Cys1150Ser)
c.4054T>A (p.Cys1352Ser)
c.4408T>A (p.Cys1470Ser)
COSMIC COSMIC
2g.25742110C>ACA43734143ASXL2c.4224G>T (p.Met1408Ile)
c.4227G>T (p.Met1409Ile)
c.4143G>T (p.Met1381Ile)
c.2676G>T (p.Met892Ile)
c.3861G>T (p.Met1287Ile)
c.3447G>T (p.Met1149Ile)
c.4053G>T (p.Met1351Ile)
c.4407G>T (p.Met1469Ile)
dbSNP
2g.25742110C=CA1239490329ASXL2c.4224G= (p.Met1408=)
c.4227G= (p.Met1409=)
c.4143G= (p.Met1381=)
c.2676G= (p.Met892=)
c.3861G= (p.Met1287=)
c.3447G= (p.Met1149=)
c.4053G= (p.Met1351=)
c.4407G= (p.Met1469=)
2g.25742110C>GCA346073617ASXL2c.4224G>C (p.Met1408Ile)
c.4227G>C (p.Met1409Ile)
c.4143G>C (p.Met1381Ile)
c.2676G>C (p.Met892Ile)
c.3861G>C (p.Met1287Ile)
c.3447G>C (p.Met1149Ile)
c.4053G>C (p.Met1351Ile)
c.4407G>C (p.Met1469Ile)
2g.25742110C>TCA346073616ASXL2c.4224G>A (p.Met1408Ile)
c.4227G>A (p.Met1409Ile)
c.4143G>A (p.Met1381Ile)
c.2676G>A (p.Met892Ile)
c.3861G>A (p.Met1287Ile)
c.3447G>A (p.Met1149Ile)
c.4053G>A (p.Met1351Ile)
c.4407G>A (p.Met1469Ile)
2g.25742111A=CA1239490330ASXL2c.4223T= (p.Met1408=)
c.4226T= (p.Met1409=)
c.4142T= (p.Met1381=)
c.2675T= (p.Met892=)
c.3860T= (p.Met1287=)
c.3446T= (p.Met1149=)
c.4052T= (p.Met1351=)
c.4406T= (p.Met1469=)
2g.25742111A>CCA346073618ASXL2c.4223T>G (p.Met1408Arg)
c.4226T>G (p.Met1409Arg)
c.4142T>G (p.Met1381Arg)
c.2675T>G (p.Met892Arg)
c.3860T>G (p.Met1287Arg)
c.3446T>G (p.Met1149Arg)
c.4052T>G (p.Met1351Arg)
c.4406T>G (p.Met1469Arg)
2g.25742111A>GCA346073619ASXL2c.4223T>C (p.Met1408Thr)
c.4226T>C (p.Met1409Thr)
c.4142T>C (p.Met1381Thr)
c.2675T>C (p.Met892Thr)
c.3860T>C (p.Met1287Thr)
c.3446T>C (p.Met1149Thr)
c.4052T>C (p.Met1351Thr)
c.4406T>C (p.Met1469Thr)
dbSNP gnomAD v3 gnomAD v4
2g.25742111A>TCA346073620ASXL2c.4223T>A (p.Met1408Lys)
c.4226T>A (p.Met1409Lys)
c.4142T>A (p.Met1381Lys)
c.2675T>A (p.Met892Lys)
c.3860T>A (p.Met1287Lys)
c.3446T>A (p.Met1149Lys)
c.4052T>A (p.Met1351Lys)
c.4406T>A (p.Met1469Lys)
2g.25742112T>ACA346073621ASXL2c.4222A>T (p.Met1408Leu)
c.4225A>T (p.Met1409Leu)
c.4141A>T (p.Met1381Leu)
c.2674A>T (p.Met892Leu)
c.3859A>T (p.Met1287Leu)
c.3445A>T (p.Met1149Leu)
c.4051A>T (p.Met1351Leu)
c.4405A>T (p.Met1469Leu)
2g.25742112T>CCA346073622ASXL2c.4222A>G (p.Met1408Val)
c.4225A>G (p.Met1409Val)
c.4141A>G (p.Met1381Val)
c.2674A>G (p.Met892Val)
c.3859A>G (p.Met1287Val)
c.3445A>G (p.Met1149Val)
c.4051A>G (p.Met1351Val)
c.4405A>G (p.Met1469Val)
2g.25742112T>GCA346073623ASXL2c.4222A>C (p.Met1408Leu)
c.4225A>C (p.Met1409Leu)
c.4141A>C (p.Met1381Leu)
c.2674A>C (p.Met892Leu)
c.3859A>C (p.Met1287Leu)
c.3445A>C (p.Met1149Leu)
c.4051A>C (p.Met1351Leu)
c.4405A>C (p.Met1469Leu)
gnomAD v4
2g.25742113G>ACA425181297ASXL2c.4221C>T (p.Ile1407=)
c.4224C>T (p.Ile1408=)
c.4140C>T (p.Ile1380=)
c.2673C>T (p.Ile891=)
c.3858C>T (p.Ile1286=)
c.3444C>T (p.Ile1148=)
c.4050C>T (p.Ile1350=)
c.4404C>T (p.Ile1468=)
2g.25742113G>CCA346073624ASXL2c.4221C>G (p.Ile1407Met)
c.4224C>G (p.Ile1408Met)
c.4140C>G (p.Ile1380Met)
c.2673C>G (p.Ile891Met)
c.3858C>G (p.Ile1286Met)
c.3444C>G (p.Ile1148Met)
c.4050C>G (p.Ile1350Met)
c.4404C>G (p.Ile1468Met)
ClinVar gnomAD v4
2g.25742113G=CA1239490331ASXL2c.4221C= (p.Ile1407=)
c.4224C= (p.Ile1408=)
c.4140C= (p.Ile1380=)
c.2673C= (p.Ile891=)
c.3858C= (p.Ile1286=)
c.3444C= (p.Ile1148=)
c.4050C= (p.Ile1350=)
c.4404C= (p.Ile1468=)
2g.25742113G>TCA1557332ASXL2c.4221C>A (p.Ile1407=)
c.4224C>A (p.Ile1408=)
c.4140C>A (p.Ile1380=)
c.2673C>A (p.Ile891=)
c.3858C>A (p.Ile1286=)
c.3444C>A (p.Ile1148=)
c.4050C>A (p.Ile1350=)
c.4404C>A (p.Ile1468=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742114A>CCA346073625ASXL2c.4220T>G (p.Ile1407Ser)
c.4223T>G (p.Ile1408Ser)
c.4139T>G (p.Ile1380Ser)
c.2672T>G (p.Ile891Ser)
c.3857T>G (p.Ile1286Ser)
c.3443T>G (p.Ile1148Ser)
c.4049T>G (p.Ile1350Ser)
c.4403T>G (p.Ile1468Ser)
2g.25742114A>GCA346073626ASXL2c.4220T>C (p.Ile1407Thr)
c.4223T>C (p.Ile1408Thr)
c.4139T>C (p.Ile1380Thr)
c.2672T>C (p.Ile891Thr)
c.3857T>C (p.Ile1286Thr)
c.3443T>C (p.Ile1148Thr)
c.4049T>C (p.Ile1350Thr)
c.4403T>C (p.Ile1468Thr)
2g.25742114A>TCA346073627ASXL2c.4220T>A (p.Ile1407Asn)
c.4223T>A (p.Ile1408Asn)
c.4139T>A (p.Ile1380Asn)
c.2672T>A (p.Ile891Asn)
c.3857T>A (p.Ile1286Asn)
c.3443T>A (p.Ile1148Asn)
c.4049T>A (p.Ile1350Asn)
c.4403T>A (p.Ile1468Asn)
2g.25742115T>ACA346073630ASXL2c.4219A>T (p.Ile1407Phe)
c.4222A>T (p.Ile1408Phe)
c.4138A>T (p.Ile1380Phe)
c.2671A>T (p.Ile891Phe)
c.3856A>T (p.Ile1286Phe)
c.3442A>T (p.Ile1148Phe)
c.4048A>T (p.Ile1350Phe)
c.4402A>T (p.Ile1468Phe)
2g.25742115T>CCA346073629ASXL2c.4219A>G (p.Ile1407Val)
c.4222A>G (p.Ile1408Val)
c.4138A>G (p.Ile1380Val)
c.2671A>G (p.Ile891Val)
c.3856A>G (p.Ile1286Val)
c.3442A>G (p.Ile1148Val)
c.4048A>G (p.Ile1350Val)
c.4402A>G (p.Ile1468Val)
2g.25742115T>GCA346073628ASXL2c.4219A>C (p.Ile1407Leu)
c.4222A>C (p.Ile1408Leu)
c.4138A>C (p.Ile1380Leu)
c.2671A>C (p.Ile891Leu)
c.3856A>C (p.Ile1286Leu)
c.3442A>C (p.Ile1148Leu)
c.4048A>C (p.Ile1350Leu)
c.4402A>C (p.Ile1468Leu)
2g.25742116C>ACA346073631ASXL2c.4218G>T (p.Met1406Ile)
c.4221G>T (p.Met1407Ile)
c.4137G>T (p.Met1379Ile)
c.2670G>T (p.Met890Ile)
c.3855G>T (p.Met1285Ile)
c.3441G>T (p.Met1147Ile)
c.4047G>T (p.Met1349Ile)
c.4401G>T (p.Met1467Ile)
2g.25742116C>GCA346073632ASXL2c.4218G>C (p.Met1406Ile)
c.4221G>C (p.Met1407Ile)
c.4137G>C (p.Met1379Ile)
c.2670G>C (p.Met890Ile)
c.3855G>C (p.Met1285Ile)
c.3441G>C (p.Met1147Ile)
c.4047G>C (p.Met1349Ile)
c.4401G>C (p.Met1467Ile)
2g.25742116C>TCA346073633ASXL2c.4218G>A (p.Met1406Ile)
c.4221G>A (p.Met1407Ile)
c.4137G>A (p.Met1379Ile)
c.2670G>A (p.Met890Ile)
c.3855G>A (p.Met1285Ile)
c.3441G>A (p.Met1147Ile)
c.4047G>A (p.Met1349Ile)
c.4401G>A (p.Met1467Ile)
gnomAD v4

Number of alleles fetched