Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.32436266G>A | CA408563309 | ASXL1 | c.3554G>A (p.Gly1185Asp) c.3371G>A (p.Gly1124Asp) n.5907G>A c.1869+1685G>A (n.1869+1685G>A) c.3539G>A (p.Gly1180Asp) c.3551G>A (p.Gly1184Asp) c.3524G>A (p.Gly1175Asp) c.3470G>A (p.Gly1157Asp) c.2870G>A (p.Gly957Asp) c.3818G>A (p.Gly1273Asp) c.3815G>A (p.Gly1272Asp) c.3734G>A (p.Gly1245Asp) c.3665G>A (p.Gly1222Asp) c.3533G>A (p.Gly1178Asp) c.3401G>A (p.Gly1134Asp) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436266G>C | CA408563310 | ASXL1 | c.3554G>C (p.Gly1185Ala) c.3371G>C (p.Gly1124Ala) n.5907G>C c.1869+1685G>C (n.1869+1685G>C) c.3539G>C (p.Gly1180Ala) c.3551G>C (p.Gly1184Ala) c.3524G>C (p.Gly1175Ala) c.3470G>C (p.Gly1157Ala) c.2870G>C (p.Gly957Ala) c.3818G>C (p.Gly1273Ala) c.3815G>C (p.Gly1272Ala) c.3734G>C (p.Gly1245Ala) c.3665G>C (p.Gly1222Ala) c.3533G>C (p.Gly1178Ala) c.3401G>C (p.Gly1134Ala) | |
20 | g.32436266G= | CA2360293616 | ASXL1 | c.3554G= (p.Gly1185=) c.3371G= (p.Gly1124=) n.5907G= c.1869+1685G= (n.1869+1685G=) c.3539G= (p.Gly1180=) c.3551G= (p.Gly1184=) c.3524G= (p.Gly1175=) c.3470G= (p.Gly1157=) c.2870G= (p.Gly957=) c.3818G= (p.Gly1273=) c.3815G= (p.Gly1272=) c.3734G= (p.Gly1245=) c.3665G= (p.Gly1222=) c.3533G= (p.Gly1178=) c.3401G= (p.Gly1134=) | |
20 | g.32436266G>T | CA408563311 | ASXL1 | c.3554G>T (p.Gly1185Val) c.3371G>T (p.Gly1124Val) n.5907G>T c.1869+1685G>T (n.1869+1685G>T) c.3539G>T (p.Gly1180Val) c.3551G>T (p.Gly1184Val) c.3524G>T (p.Gly1175Val) c.3470G>T (p.Gly1157Val) c.2870G>T (p.Gly957Val) c.3818G>T (p.Gly1273Val) c.3815G>T (p.Gly1272Val) c.3734G>T (p.Gly1245Val) c.3665G>T (p.Gly1222Val) c.3533G>T (p.Gly1178Val) c.3401G>T (p.Gly1134Val) | |
20 | g.32436267C>A | CA510467301 | ASXL1 | c.3555C>A (p.Gly1185=) c.3372C>A (p.Gly1124=) n.5908C>A c.1869+1686C>A (n.1869+1686C>A) c.3540C>A (p.Gly1180=) c.3552C>A (p.Gly1184=) c.3525C>A (p.Gly1175=) c.3471C>A (p.Gly1157=) c.2871C>A (p.Gly957=) c.3819C>A (p.Gly1273=) c.3816C>A (p.Gly1272=) c.3735C>A (p.Gly1245=) c.3666C>A (p.Gly1222=) c.3534C>A (p.Gly1178=) c.3402C>A (p.Gly1134=) | |
20 | g.32436267C>G | CA510467302 | ASXL1 | c.3555C>G (p.Gly1185=) c.3372C>G (p.Gly1124=) n.5908C>G c.1869+1686C>G (n.1869+1686C>G) c.3540C>G (p.Gly1180=) c.3552C>G (p.Gly1184=) c.3525C>G (p.Gly1175=) c.3471C>G (p.Gly1157=) c.2871C>G (p.Gly957=) c.3819C>G (p.Gly1273=) c.3816C>G (p.Gly1272=) c.3735C>G (p.Gly1245=) c.3666C>G (p.Gly1222=) c.3534C>G (p.Gly1178=) c.3402C>G (p.Gly1134=) | |
20 | g.32436267C>T | CA510467304 | ASXL1 | c.3555C>T (p.Gly1185=) c.3372C>T (p.Gly1124=) n.5908C>T c.1869+1686C>T (n.1869+1686C>T) c.3540C>T (p.Gly1180=) c.3552C>T (p.Gly1184=) c.3525C>T (p.Gly1175=) c.3471C>T (p.Gly1157=) c.2871C>T (p.Gly957=) c.3819C>T (p.Gly1273=) c.3816C>T (p.Gly1272=) c.3735C>T (p.Gly1245=) c.3666C>T (p.Gly1222=) c.3534C>T (p.Gly1178=) c.3402C>T (p.Gly1134=) | |
20 | g.32436268A= | CA2360293617 | ASXL1 | c.3556A= (p.Thr1186=) c.3373A= (p.Thr1125=) n.5909A= c.1869+1687A= (n.1869+1687A=) c.3541A= (p.Thr1181=) c.3553A= (p.Thr1185=) c.3526A= (p.Thr1176=) c.3472A= (p.Thr1158=) c.2872A= (p.Thr958=) c.3820A= (p.Thr1274=) c.3817A= (p.Thr1273=) c.3736A= (p.Thr1246=) c.3667A= (p.Thr1223=) c.3535A= (p.Thr1179=) c.3403A= (p.Thr1135=) | |
20 | g.32436268A>C | CA313926350 | ASXL1 | c.3556A>C (p.Thr1186Pro) c.3373A>C (p.Thr1125Pro) n.5909A>C c.1869+1687A>C (n.1869+1687A>C) c.3541A>C (p.Thr1181Pro) c.3553A>C (p.Thr1185Pro) c.3526A>C (p.Thr1176Pro) c.3472A>C (p.Thr1158Pro) c.2872A>C (p.Thr958Pro) c.3820A>C (p.Thr1274Pro) c.3817A>C (p.Thr1273Pro) c.3736A>C (p.Thr1246Pro) c.3667A>C (p.Thr1223Pro) c.3535A>C (p.Thr1179Pro) c.3403A>C (p.Thr1135Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436268A>G | CA408563312 | ASXL1 | c.3556A>G (p.Thr1186Ala) c.3373A>G (p.Thr1125Ala) n.5909A>G c.1869+1687A>G (n.1869+1687A>G) c.3541A>G (p.Thr1181Ala) c.3553A>G (p.Thr1185Ala) c.3526A>G (p.Thr1176Ala) c.3472A>G (p.Thr1158Ala) c.2872A>G (p.Thr958Ala) c.3820A>G (p.Thr1274Ala) c.3817A>G (p.Thr1273Ala) c.3736A>G (p.Thr1246Ala) c.3667A>G (p.Thr1223Ala) c.3535A>G (p.Thr1179Ala) c.3403A>G (p.Thr1135Ala) | ClinVar |
20 | g.32436268A>T | CA408563313 | ASXL1 | c.3556A>T (p.Thr1186Ser) c.3373A>T (p.Thr1125Ser) n.5909A>T c.1869+1687A>T (n.1869+1687A>T) c.3541A>T (p.Thr1181Ser) c.3553A>T (p.Thr1185Ser) c.3526A>T (p.Thr1176Ser) c.3472A>T (p.Thr1158Ser) c.2872A>T (p.Thr958Ser) c.3820A>T (p.Thr1274Ser) c.3817A>T (p.Thr1273Ser) c.3736A>T (p.Thr1246Ser) c.3667A>T (p.Thr1223Ser) c.3535A>T (p.Thr1179Ser) c.3403A>T (p.Thr1135Ser) | gnomAD v4 |
20 | g.32436269C>A | CA408563316 | ASXL1 | c.3557C>A (p.Thr1186Asn) c.3374C>A (p.Thr1125Asn) n.5910C>A c.1869+1688C>A (n.1869+1688C>A) c.3542C>A (p.Thr1181Asn) c.3554C>A (p.Thr1185Asn) c.3527C>A (p.Thr1176Asn) c.3473C>A (p.Thr1158Asn) c.2873C>A (p.Thr958Asn) c.3821C>A (p.Thr1274Asn) c.3818C>A (p.Thr1273Asn) c.3737C>A (p.Thr1246Asn) c.3668C>A (p.Thr1223Asn) c.3536C>A (p.Thr1179Asn) c.3404C>A (p.Thr1135Asn) | |
20 | g.32436269C= | CA2360293618 | ASXL1 | c.3557C= (p.Thr1186=) c.3374C= (p.Thr1125=) n.5910C= c.1869+1688C= (n.1869+1688C=) c.3542C= (p.Thr1181=) c.3554C= (p.Thr1185=) c.3527C= (p.Thr1176=) c.3473C= (p.Thr1158=) c.2873C= (p.Thr958=) c.3821C= (p.Thr1274=) c.3818C= (p.Thr1273=) c.3737C= (p.Thr1246=) c.3668C= (p.Thr1223=) c.3536C= (p.Thr1179=) c.3404C= (p.Thr1135=) | |
20 | g.32436269C>G | CA408563315 | ASXL1 | c.3557C>G (p.Thr1186Ser) c.3374C>G (p.Thr1125Ser) n.5910C>G c.1869+1688C>G (n.1869+1688C>G) c.3542C>G (p.Thr1181Ser) c.3554C>G (p.Thr1185Ser) c.3527C>G (p.Thr1176Ser) c.3473C>G (p.Thr1158Ser) c.2873C>G (p.Thr958Ser) c.3821C>G (p.Thr1274Ser) c.3818C>G (p.Thr1273Ser) c.3737C>G (p.Thr1246Ser) c.3668C>G (p.Thr1223Ser) c.3536C>G (p.Thr1179Ser) c.3404C>G (p.Thr1135Ser) | dbSNP |
20 | g.32436269C>T | CA408563314 | ASXL1 | c.3557C>T (p.Thr1186Ile) c.3374C>T (p.Thr1125Ile) n.5910C>T c.1869+1688C>T (n.1869+1688C>T) c.3542C>T (p.Thr1181Ile) c.3554C>T (p.Thr1185Ile) c.3527C>T (p.Thr1176Ile) c.3473C>T (p.Thr1158Ile) c.2873C>T (p.Thr958Ile) c.3821C>T (p.Thr1274Ile) c.3818C>T (p.Thr1273Ile) c.3737C>T (p.Thr1246Ile) c.3668C>T (p.Thr1223Ile) c.3536C>T (p.Thr1179Ile) c.3404C>T (p.Thr1135Ile) | COSMIC COSMIC |
20 | g.32436270T>A | CA510467307 | ASXL1 | c.3558T>A (p.Thr1186=) c.3375T>A (p.Thr1125=) n.5911T>A c.1869+1689T>A (n.1869+1689T>A) c.3543T>A (p.Thr1181=) c.3555T>A (p.Thr1185=) c.3528T>A (p.Thr1176=) c.3474T>A (p.Thr1158=) c.2874T>A (p.Thr958=) c.3822T>A (p.Thr1274=) c.3819T>A (p.Thr1273=) c.3738T>A (p.Thr1246=) c.3669T>A (p.Thr1223=) c.3537T>A (p.Thr1179=) c.3405T>A (p.Thr1135=) | dbSNP |
20 | g.32436270T>C | CA313926351 | ASXL1 | c.3558T>C (p.Thr1186=) c.3375T>C (p.Thr1125=) n.5911T>C c.1869+1689T>C (n.1869+1689T>C) c.3543T>C (p.Thr1181=) c.3555T>C (p.Thr1185=) c.3528T>C (p.Thr1176=) c.3474T>C (p.Thr1158=) c.2874T>C (p.Thr958=) c.3822T>C (p.Thr1274=) c.3819T>C (p.Thr1273=) c.3738T>C (p.Thr1246=) c.3669T>C (p.Thr1223=) c.3537T>C (p.Thr1179=) c.3405T>C (p.Thr1135=) | dbSNP |
20 | g.32436270T>G | CA510467308 | ASXL1 | c.3558T>G (p.Thr1186=) c.3375T>G (p.Thr1125=) n.5911T>G c.1869+1689T>G (n.1869+1689T>G) c.3543T>G (p.Thr1181=) c.3555T>G (p.Thr1185=) c.3528T>G (p.Thr1176=) c.3474T>G (p.Thr1158=) c.2874T>G (p.Thr958=) c.3822T>G (p.Thr1274=) c.3819T>G (p.Thr1273=) c.3738T>G (p.Thr1246=) c.3669T>G (p.Thr1223=) c.3537T>G (p.Thr1179=) c.3405T>G (p.Thr1135=) | |
20 | g.32436270T= | CA2360293619 | ASXL1 | c.3558T= (p.Thr1186=) c.3375T= (p.Thr1125=) n.5911T= c.1869+1689T= (n.1869+1689T=) c.3543T= (p.Thr1181=) c.3555T= (p.Thr1185=) c.3528T= (p.Thr1176=) c.3474T= (p.Thr1158=) c.2874T= (p.Thr958=) c.3822T= (p.Thr1274=) c.3819T= (p.Thr1273=) c.3738T= (p.Thr1246=) c.3669T= (p.Thr1223=) c.3537T= (p.Thr1179=) c.3405T= (p.Thr1135=) | |
20 | g.32436271G>A | CA408563317 | ASXL1 | c.3559G>A (p.Gly1187Ser) c.3376G>A (p.Gly1126Ser) n.5912G>A c.1869+1690G>A (n.1869+1690G>A) c.3544G>A (p.Gly1182Ser) c.3556G>A (p.Gly1186Ser) c.3529G>A (p.Gly1177Ser) c.3475G>A (p.Gly1159Ser) c.2875G>A (p.Gly959Ser) c.3823G>A (p.Gly1275Ser) c.3820G>A (p.Gly1274Ser) c.3739G>A (p.Gly1247Ser) c.3670G>A (p.Gly1224Ser) c.3538G>A (p.Gly1180Ser) c.3406G>A (p.Gly1136Ser) | gnomAD v4 |
20 | g.32436271G>C | CA408563318 | ASXL1 | c.3559G>C (p.Gly1187Arg) c.3376G>C (p.Gly1126Arg) n.5912G>C c.1869+1690G>C (n.1869+1690G>C) c.3544G>C (p.Gly1182Arg) c.3556G>C (p.Gly1186Arg) c.3529G>C (p.Gly1177Arg) c.3475G>C (p.Gly1159Arg) c.2875G>C (p.Gly959Arg) c.3823G>C (p.Gly1275Arg) c.3820G>C (p.Gly1274Arg) c.3739G>C (p.Gly1247Arg) c.3670G>C (p.Gly1224Arg) c.3538G>C (p.Gly1180Arg) c.3406G>C (p.Gly1136Arg) | |
20 | g.32436271G>T | CA408563319 | ASXL1 | c.3559G>T (p.Gly1187Cys) c.3376G>T (p.Gly1126Cys) n.5912G>T c.1869+1690G>T (n.1869+1690G>T) c.3544G>T (p.Gly1182Cys) c.3556G>T (p.Gly1186Cys) c.3529G>T (p.Gly1177Cys) c.3475G>T (p.Gly1159Cys) c.2875G>T (p.Gly959Cys) c.3823G>T (p.Gly1275Cys) c.3820G>T (p.Gly1274Cys) c.3739G>T (p.Gly1247Cys) c.3670G>T (p.Gly1224Cys) c.3538G>T (p.Gly1180Cys) c.3406G>T (p.Gly1136Cys) | |
20 | g.32436272G>A | CA9808852 | ASXL1 | c.3560G>A (p.Gly1187Asp) c.3377G>A (p.Gly1126Asp) n.5913G>A c.1869+1691G>A (n.1869+1691G>A) c.3545G>A (p.Gly1182Asp) c.3557G>A (p.Gly1186Asp) c.3530G>A (p.Gly1177Asp) c.3476G>A (p.Gly1159Asp) c.2876G>A (p.Gly959Asp) c.3824G>A (p.Gly1275Asp) c.3821G>A (p.Gly1274Asp) c.3740G>A (p.Gly1247Asp) c.3671G>A (p.Gly1224Asp) c.3539G>A (p.Gly1180Asp) c.3407G>A (p.Gly1136Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436272G>C | CA408563320 | ASXL1 | c.3560G>C (p.Gly1187Ala) c.3377G>C (p.Gly1126Ala) n.5913G>C c.1869+1691G>C (n.1869+1691G>C) c.3545G>C (p.Gly1182Ala) c.3557G>C (p.Gly1186Ala) c.3530G>C (p.Gly1177Ala) c.3476G>C (p.Gly1159Ala) c.2876G>C (p.Gly959Ala) c.3824G>C (p.Gly1275Ala) c.3821G>C (p.Gly1274Ala) c.3740G>C (p.Gly1247Ala) c.3671G>C (p.Gly1224Ala) c.3539G>C (p.Gly1180Ala) c.3407G>C (p.Gly1136Ala) | |
20 | g.32436272G= | CA2360293620 | ASXL1 | c.3560G= (p.Gly1187=) c.3377G= (p.Gly1126=) n.5913G= c.1869+1691G= (n.1869+1691G=) c.3545G= (p.Gly1182=) c.3557G= (p.Gly1186=) c.3530G= (p.Gly1177=) c.3476G= (p.Gly1159=) c.2876G= (p.Gly959=) c.3824G= (p.Gly1275=) c.3821G= (p.Gly1274=) c.3740G= (p.Gly1247=) c.3671G= (p.Gly1224=) c.3539G= (p.Gly1180=) c.3407G= (p.Gly1136=) | |
20 | g.32436272G>T | CA9808851 | ASXL1 | c.3560G>T (p.Gly1187Val) c.3377G>T (p.Gly1126Val) n.5913G>T c.1869+1691G>T (n.1869+1691G>T) c.3545G>T (p.Gly1182Val) c.3557G>T (p.Gly1186Val) c.3530G>T (p.Gly1177Val) c.3476G>T (p.Gly1159Val) c.2876G>T (p.Gly959Val) c.3824G>T (p.Gly1275Val) c.3821G>T (p.Gly1274Val) c.3740G>T (p.Gly1247Val) c.3671G>T (p.Gly1224Val) c.3539G>T (p.Gly1180Val) c.3407G>T (p.Gly1136Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436273T>A | CA510467309 | ASXL1 | c.3561T>A (p.Gly1187=) c.3378T>A (p.Gly1126=) n.5914T>A c.1869+1692T>A (n.1869+1692T>A) c.3546T>A (p.Gly1182=) c.3558T>A (p.Gly1186=) c.3531T>A (p.Gly1177=) c.3477T>A (p.Gly1159=) c.2877T>A (p.Gly959=) c.3825T>A (p.Gly1275=) c.3822T>A (p.Gly1274=) c.3741T>A (p.Gly1247=) c.3672T>A (p.Gly1224=) c.3540T>A (p.Gly1180=) c.3408T>A (p.Gly1136=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436273T>C | CA510467310 | ASXL1 | c.3561T>C (p.Gly1187=) c.3378T>C (p.Gly1126=) n.5914T>C c.1869+1692T>C (n.1869+1692T>C) c.3546T>C (p.Gly1182=) c.3558T>C (p.Gly1186=) c.3531T>C (p.Gly1177=) c.3477T>C (p.Gly1159=) c.2877T>C (p.Gly959=) c.3825T>C (p.Gly1275=) c.3822T>C (p.Gly1274=) c.3741T>C (p.Gly1247=) c.3672T>C (p.Gly1224=) c.3540T>C (p.Gly1180=) c.3408T>C (p.Gly1136=) | |
20 | g.32436273T>G | CA510467311 | ASXL1 | c.3561T>G (p.Gly1187=) c.3378T>G (p.Gly1126=) n.5914T>G c.1869+1692T>G (n.1869+1692T>G) c.3546T>G (p.Gly1182=) c.3558T>G (p.Gly1186=) c.3531T>G (p.Gly1177=) c.3477T>G (p.Gly1159=) c.2877T>G (p.Gly959=) c.3825T>G (p.Gly1275=) c.3822T>G (p.Gly1274=) c.3741T>G (p.Gly1247=) c.3672T>G (p.Gly1224=) c.3540T>G (p.Gly1180=) c.3408T>G (p.Gly1136=) | dbSNP gnomAD v4 |
20 | g.32436273T= | CA2360293621 | ASXL1 | c.3561T= (p.Gly1187=) c.3378T= (p.Gly1126=) n.5914T= c.1869+1692T= (n.1869+1692T=) c.3546T= (p.Gly1182=) c.3558T= (p.Gly1186=) c.3531T= (p.Gly1177=) c.3477T= (p.Gly1159=) c.2877T= (p.Gly959=) c.3825T= (p.Gly1275=) c.3822T= (p.Gly1274=) c.3741T= (p.Gly1247=) c.3672T= (p.Gly1224=) c.3540T= (p.Gly1180=) c.3408T= (p.Gly1136=) | |
20 | g.32436274C>A | CA9808853 | ASXL1 | c.3562C>A (p.Leu1188Ile) c.3379C>A (p.Leu1127Ile) n.5915C>A c.1869+1693C>A (n.1869+1693C>A) c.3547C>A (p.Leu1183Ile) c.3559C>A (p.Leu1187Ile) c.3532C>A (p.Leu1178Ile) c.3478C>A (p.Leu1160Ile) c.2878C>A (p.Leu960Ile) c.3826C>A (p.Leu1276Ile) c.3823C>A (p.Leu1275Ile) c.3742C>A (p.Leu1248Ile) c.3673C>A (p.Leu1225Ile) c.3541C>A (p.Leu1181Ile) c.3409C>A (p.Leu1137Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436274C= | CA2360293622 | ASXL1 | c.3562C= (p.Leu1188=) c.3379C= (p.Leu1127=) n.5915C= c.1869+1693C= (n.1869+1693C=) c.3547C= (p.Leu1183=) c.3559C= (p.Leu1187=) c.3532C= (p.Leu1178=) c.3478C= (p.Leu1160=) c.2878C= (p.Leu960=) c.3826C= (p.Leu1276=) c.3823C= (p.Leu1275=) c.3742C= (p.Leu1248=) c.3673C= (p.Leu1225=) c.3541C= (p.Leu1181=) c.3409C= (p.Leu1137=) | |
20 | g.32436274C>G | CA408563321 | ASXL1 | c.3562C>G (p.Leu1188Val) c.3379C>G (p.Leu1127Val) n.5915C>G c.1869+1693C>G (n.1869+1693C>G) c.3547C>G (p.Leu1183Val) c.3559C>G (p.Leu1187Val) c.3532C>G (p.Leu1178Val) c.3478C>G (p.Leu1160Val) c.2878C>G (p.Leu960Val) c.3826C>G (p.Leu1276Val) c.3823C>G (p.Leu1275Val) c.3742C>G (p.Leu1248Val) c.3673C>G (p.Leu1225Val) c.3541C>G (p.Leu1181Val) c.3409C>G (p.Leu1137Val) | |
20 | g.32436274C>T | CA408563322 | ASXL1 | c.3562C>T (p.Leu1188Phe) c.3379C>T (p.Leu1127Phe) n.5915C>T c.1869+1693C>T (n.1869+1693C>T) c.3547C>T (p.Leu1183Phe) c.3559C>T (p.Leu1187Phe) c.3532C>T (p.Leu1178Phe) c.3478C>T (p.Leu1160Phe) c.2878C>T (p.Leu960Phe) c.3826C>T (p.Leu1276Phe) c.3823C>T (p.Leu1275Phe) c.3742C>T (p.Leu1248Phe) c.3673C>T (p.Leu1225Phe) c.3541C>T (p.Leu1181Phe) c.3409C>T (p.Leu1137Phe) | |
20 | g.32436275T>A | CA408563323 | ASXL1 | c.3563T>A (p.Leu1188His) c.3380T>A (p.Leu1127His) n.5916T>A c.1869+1694T>A (n.1869+1694T>A) c.3548T>A (p.Leu1183His) c.3560T>A (p.Leu1187His) c.3533T>A (p.Leu1178His) c.3479T>A (p.Leu1160His) c.2879T>A (p.Leu960His) c.3827T>A (p.Leu1276His) c.3824T>A (p.Leu1275His) c.3743T>A (p.Leu1248His) c.3674T>A (p.Leu1225His) c.3542T>A (p.Leu1181His) c.3410T>A (p.Leu1137His) | |
20 | g.32436275T>C | CA408563324 | ASXL1 | c.3563T>C (p.Leu1188Pro) c.3380T>C (p.Leu1127Pro) n.5916T>C c.1869+1694T>C (n.1869+1694T>C) c.3548T>C (p.Leu1183Pro) c.3560T>C (p.Leu1187Pro) c.3533T>C (p.Leu1178Pro) c.3479T>C (p.Leu1160Pro) c.2879T>C (p.Leu960Pro) c.3827T>C (p.Leu1276Pro) c.3824T>C (p.Leu1275Pro) c.3743T>C (p.Leu1248Pro) c.3674T>C (p.Leu1225Pro) c.3542T>C (p.Leu1181Pro) c.3410T>C (p.Leu1137Pro) | |
20 | g.32436275T>G | CA408563325 | ASXL1 | c.3563T>G (p.Leu1188Arg) c.3380T>G (p.Leu1127Arg) n.5916T>G c.1869+1694T>G (n.1869+1694T>G) c.3548T>G (p.Leu1183Arg) c.3560T>G (p.Leu1187Arg) c.3533T>G (p.Leu1178Arg) c.3479T>G (p.Leu1160Arg) c.2879T>G (p.Leu960Arg) c.3827T>G (p.Leu1276Arg) c.3824T>G (p.Leu1275Arg) c.3743T>G (p.Leu1248Arg) c.3674T>G (p.Leu1225Arg) c.3542T>G (p.Leu1181Arg) c.3410T>G (p.Leu1137Arg) | |
20 | g.32436276T>A | CA510467314 | ASXL1 | c.3564T>A (p.Leu1188=) c.3381T>A (p.Leu1127=) n.5917T>A c.1869+1695T>A (n.1869+1695T>A) c.3549T>A (p.Leu1183=) c.3561T>A (p.Leu1187=) c.3534T>A (p.Leu1178=) c.3480T>A (p.Leu1160=) c.2880T>A (p.Leu960=) c.3828T>A (p.Leu1276=) c.3825T>A (p.Leu1275=) c.3744T>A (p.Leu1248=) c.3675T>A (p.Leu1225=) c.3543T>A (p.Leu1181=) c.3411T>A (p.Leu1137=) | |
20 | g.32436276T>C | CA510467313 | ASXL1 | c.3564T>C (p.Leu1188=) c.3381T>C (p.Leu1127=) n.5917T>C c.1869+1695T>C (n.1869+1695T>C) c.3549T>C (p.Leu1183=) c.3561T>C (p.Leu1187=) c.3534T>C (p.Leu1178=) c.3480T>C (p.Leu1160=) c.2880T>C (p.Leu960=) c.3828T>C (p.Leu1276=) c.3825T>C (p.Leu1275=) c.3744T>C (p.Leu1248=) c.3675T>C (p.Leu1225=) c.3543T>C (p.Leu1181=) c.3411T>C (p.Leu1137=) | |
20 | g.32436276T>G | CA510467312 | ASXL1 | c.3564T>G (p.Leu1188=) c.3381T>G (p.Leu1127=) n.5917T>G c.1869+1695T>G (n.1869+1695T>G) c.3549T>G (p.Leu1183=) c.3561T>G (p.Leu1187=) c.3534T>G (p.Leu1178=) c.3480T>G (p.Leu1160=) c.2880T>G (p.Leu960=) c.3828T>G (p.Leu1276=) c.3825T>G (p.Leu1275=) c.3744T>G (p.Leu1248=) c.3675T>G (p.Leu1225=) c.3543T>G (p.Leu1181=) c.3411T>G (p.Leu1137=) | |
20 | g.32436277G>A | CA408563328 | ASXL1 | c.3565G>A (p.Ala1189Thr) c.3382G>A (p.Ala1128Thr) n.5918G>A c.1869+1696G>A (n.1869+1696G>A) c.3550G>A (p.Ala1184Thr) c.3562G>A (p.Ala1188Thr) c.3535G>A (p.Ala1179Thr) c.3481G>A (p.Ala1161Thr) c.2881G>A (p.Ala961Thr) c.3829G>A (p.Ala1277Thr) c.3826G>A (p.Ala1276Thr) c.3745G>A (p.Ala1249Thr) c.3676G>A (p.Ala1226Thr) c.3544G>A (p.Ala1182Thr) c.3412G>A (p.Ala1138Thr) | ClinVar dbSNP |
20 | g.32436277G>C | CA408563327 | ASXL1 | c.3565G>C (p.Ala1189Pro) c.3382G>C (p.Ala1128Pro) n.5918G>C c.1869+1696G>C (n.1869+1696G>C) c.3550G>C (p.Ala1184Pro) c.3562G>C (p.Ala1188Pro) c.3535G>C (p.Ala1179Pro) c.3481G>C (p.Ala1161Pro) c.2881G>C (p.Ala961Pro) c.3829G>C (p.Ala1277Pro) c.3826G>C (p.Ala1276Pro) c.3745G>C (p.Ala1249Pro) c.3676G>C (p.Ala1226Pro) c.3544G>C (p.Ala1182Pro) c.3412G>C (p.Ala1138Pro) | |
20 | g.32436277G>T | CA408563326 | ASXL1 | c.3565G>T (p.Ala1189Ser) c.3382G>T (p.Ala1128Ser) n.5918G>T c.1869+1696G>T (n.1869+1696G>T) c.3550G>T (p.Ala1184Ser) c.3562G>T (p.Ala1188Ser) c.3535G>T (p.Ala1179Ser) c.3481G>T (p.Ala1161Ser) c.2881G>T (p.Ala961Ser) c.3829G>T (p.Ala1277Ser) c.3826G>T (p.Ala1276Ser) c.3745G>T (p.Ala1249Ser) c.3676G>T (p.Ala1226Ser) c.3544G>T (p.Ala1182Ser) c.3412G>T (p.Ala1138Ser) | |
20 | g.32436278C>A | CA408563329 | ASXL1 | c.3566C>A (p.Ala1189Asp) c.3383C>A (p.Ala1128Asp) n.5919C>A c.1869+1697C>A (n.1869+1697C>A) c.3551C>A (p.Ala1184Asp) c.3563C>A (p.Ala1188Asp) c.3536C>A (p.Ala1179Asp) c.3482C>A (p.Ala1161Asp) c.2882C>A (p.Ala961Asp) c.3830C>A (p.Ala1277Asp) c.3827C>A (p.Ala1276Asp) c.3746C>A (p.Ala1249Asp) c.3677C>A (p.Ala1226Asp) c.3545C>A (p.Ala1182Asp) c.3413C>A (p.Ala1138Asp) | |
20 | g.32436278C>G | CA408563330 | ASXL1 | c.3566C>G (p.Ala1189Gly) c.3383C>G (p.Ala1128Gly) n.5919C>G c.1869+1697C>G (n.1869+1697C>G) c.3551C>G (p.Ala1184Gly) c.3563C>G (p.Ala1188Gly) c.3536C>G (p.Ala1179Gly) c.3482C>G (p.Ala1161Gly) c.2882C>G (p.Ala961Gly) c.3830C>G (p.Ala1277Gly) c.3827C>G (p.Ala1276Gly) c.3746C>G (p.Ala1249Gly) c.3677C>G (p.Ala1226Gly) c.3545C>G (p.Ala1182Gly) c.3413C>G (p.Ala1138Gly) | |
20 | g.32436278C>T | CA408563331 | ASXL1 | c.3566C>T (p.Ala1189Val) c.3383C>T (p.Ala1128Val) n.5919C>T c.1869+1697C>T (n.1869+1697C>T) c.3551C>T (p.Ala1184Val) c.3563C>T (p.Ala1188Val) c.3536C>T (p.Ala1179Val) c.3482C>T (p.Ala1161Val) c.2882C>T (p.Ala961Val) c.3830C>T (p.Ala1277Val) c.3827C>T (p.Ala1276Val) c.3746C>T (p.Ala1249Val) c.3677C>T (p.Ala1226Val) c.3545C>T (p.Ala1182Val) c.3413C>T (p.Ala1138Val) | |
20 | g.32436279C>A | CA510467316 | ASXL1 | c.3567C>A (p.Ala1189=) c.3384C>A (p.Ala1128=) n.5920C>A c.1869+1698C>A (n.1869+1698C>A) c.3552C>A (p.Ala1184=) c.3564C>A (p.Ala1188=) c.3537C>A (p.Ala1179=) c.3483C>A (p.Ala1161=) c.2883C>A (p.Ala961=) c.3831C>A (p.Ala1277=) c.3828C>A (p.Ala1276=) c.3747C>A (p.Ala1249=) c.3678C>A (p.Ala1226=) c.3546C>A (p.Ala1182=) c.3414C>A (p.Ala1138=) | |
20 | g.32436279C>G | CA510467317 | ASXL1 | c.3567C>G (p.Ala1189=) c.3384C>G (p.Ala1128=) n.5920C>G c.1869+1698C>G (n.1869+1698C>G) c.3552C>G (p.Ala1184=) c.3564C>G (p.Ala1188=) c.3537C>G (p.Ala1179=) c.3483C>G (p.Ala1161=) c.2883C>G (p.Ala961=) c.3831C>G (p.Ala1277=) c.3828C>G (p.Ala1276=) c.3747C>G (p.Ala1249=) c.3678C>G (p.Ala1226=) c.3546C>G (p.Ala1182=) c.3414C>G (p.Ala1138=) | |
20 | g.32436279C>T | CA510467318 | ASXL1 | c.3567C>T (p.Ala1189=) c.3384C>T (p.Ala1128=) n.5920C>T c.1869+1698C>T (n.1869+1698C>T) c.3552C>T (p.Ala1184=) c.3564C>T (p.Ala1188=) c.3537C>T (p.Ala1179=) c.3483C>T (p.Ala1161=) c.2883C>T (p.Ala961=) c.3831C>T (p.Ala1277=) c.3828C>T (p.Ala1276=) c.3747C>T (p.Ala1249=) c.3678C>T (p.Ala1226=) c.3546C>T (p.Ala1182=) c.3414C>T (p.Ala1138=) | |
20 | g.32436280A= | CA2360293623 | ASXL1 | c.3568A= (p.Arg1190=) c.3385A= (p.Arg1129=) n.5921A= c.1869+1699A= (n.1869+1699A=) c.3553A= (p.Arg1185=) c.3565A= (p.Arg1189=) c.3538A= (p.Arg1180=) c.3484A= (p.Arg1162=) c.2884A= (p.Arg962=) c.3832A= (p.Arg1278=) c.3829A= (p.Arg1277=) c.3748A= (p.Arg1250=) c.3679A= (p.Arg1227=) c.3547A= (p.Arg1183=) c.3415A= (p.Arg1139=) | |
20 | g.32436280A>C | CA510467319 | ASXL1 | c.3568A>C (p.Arg1190=) c.3385A>C (p.Arg1129=) n.5921A>C c.1869+1699A>C (n.1869+1699A>C) c.3553A>C (p.Arg1185=) c.3565A>C (p.Arg1189=) c.3538A>C (p.Arg1180=) c.3484A>C (p.Arg1162=) c.2884A>C (p.Arg962=) c.3832A>C (p.Arg1278=) c.3829A>C (p.Arg1277=) c.3748A>C (p.Arg1250=) c.3679A>C (p.Arg1227=) c.3547A>C (p.Arg1183=) c.3415A>C (p.Arg1139=) | |
20 | g.32436280A>G | CA408563332 | ASXL1 | c.3568A>G (p.Arg1190Gly) c.3385A>G (p.Arg1129Gly) n.5921A>G c.1869+1699A>G (n.1869+1699A>G) c.3553A>G (p.Arg1185Gly) c.3565A>G (p.Arg1189Gly) c.3538A>G (p.Arg1180Gly) c.3484A>G (p.Arg1162Gly) c.2884A>G (p.Arg962Gly) c.3832A>G (p.Arg1278Gly) c.3829A>G (p.Arg1277Gly) c.3748A>G (p.Arg1250Gly) c.3679A>G (p.Arg1227Gly) c.3547A>G (p.Arg1183Gly) c.3415A>G (p.Arg1139Gly) | |
20 | g.32436280A>T | CA408563333 | ASXL1 | c.3568A>T (p.Arg1190Trp) c.3385A>T (p.Arg1129Trp) n.5921A>T c.1869+1699A>T (n.1869+1699A>T) c.3553A>T (p.Arg1185Trp) c.3565A>T (p.Arg1189Trp) c.3538A>T (p.Arg1180Trp) c.3484A>T (p.Arg1162Trp) c.2884A>T (p.Arg962Trp) c.3832A>T (p.Arg1278Trp) c.3829A>T (p.Arg1277Trp) c.3748A>T (p.Arg1250Trp) c.3679A>T (p.Arg1227Trp) c.3547A>T (p.Arg1183Trp) c.3415A>T (p.Arg1139Trp) | |
20 | g.32436281G>A | CA9808854 | ASXL1 | c.3569G>A (p.Arg1190Lys) c.3386G>A (p.Arg1129Lys) n.5922G>A c.1869+1700G>A (n.1869+1700G>A) c.3554G>A (p.Arg1185Lys) c.3566G>A (p.Arg1189Lys) c.3539G>A (p.Arg1180Lys) c.3485G>A (p.Arg1162Lys) c.2885G>A (p.Arg962Lys) c.3833G>A (p.Arg1278Lys) c.3830G>A (p.Arg1277Lys) c.3749G>A (p.Arg1250Lys) c.3680G>A (p.Arg1227Lys) c.3548G>A (p.Arg1183Lys) c.3416G>A (p.Arg1139Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.32436281G>C | CA408563334 | ASXL1 | c.3569G>C (p.Arg1190Thr) c.3386G>C (p.Arg1129Thr) n.5922G>C c.1869+1700G>C (n.1869+1700G>C) c.3554G>C (p.Arg1185Thr) c.3566G>C (p.Arg1189Thr) c.3539G>C (p.Arg1180Thr) c.3485G>C (p.Arg1162Thr) c.2885G>C (p.Arg962Thr) c.3833G>C (p.Arg1278Thr) c.3830G>C (p.Arg1277Thr) c.3749G>C (p.Arg1250Thr) c.3680G>C (p.Arg1227Thr) c.3548G>C (p.Arg1183Thr) c.3416G>C (p.Arg1139Thr) | |
20 | g.32436281G= | CA2360293624 | ASXL1 | c.3569G= (p.Arg1190=) c.3386G= (p.Arg1129=) n.5922G= c.1869+1700G= (n.1869+1700G=) c.3554G= (p.Arg1185=) c.3566G= (p.Arg1189=) c.3539G= (p.Arg1180=) c.3485G= (p.Arg1162=) c.2885G= (p.Arg962=) c.3833G= (p.Arg1278=) c.3830G= (p.Arg1277=) c.3749G= (p.Arg1250=) c.3680G= (p.Arg1227=) c.3548G= (p.Arg1183=) c.3416G= (p.Arg1139=) | |
20 | g.32436281G>T | CA408563335 | ASXL1 | c.3569G>T (p.Arg1190Met) c.3386G>T (p.Arg1129Met) n.5922G>T c.1869+1700G>T (n.1869+1700G>T) c.3554G>T (p.Arg1185Met) c.3566G>T (p.Arg1189Met) c.3539G>T (p.Arg1180Met) c.3485G>T (p.Arg1162Met) c.2885G>T (p.Arg962Met) c.3833G>T (p.Arg1278Met) c.3830G>T (p.Arg1277Met) c.3749G>T (p.Arg1250Met) c.3680G>T (p.Arg1227Met) c.3548G>T (p.Arg1183Met) c.3416G>T (p.Arg1139Met) | |
20 | g.32436281_32436343dup | CA635268547 | ASXL1 | c.3569_3631dup (p.Phe1210_Asp1211insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe) c.3386_3448dup (p.Phe1149_Asp1150insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe) n.5922_5984dup c.1869+1700_1869+1762dup (n.1869+1700_1869+1762dup) c.3554_3616dup (p.Phe1205_Asp1206insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe) c.3566_3628dup (p.Phe1209_Asp1210insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe) c.3539_3601dup (p.Phe1200_Asp1201insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe) c.3485_3547dup (p.Phe1182_Asp1183insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe) c.2885_2947dup (p.Phe982_Asp983insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe) c.3833_3895dup (p.Phe1298_Asp1299insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe) c.3830_3892dup (p.Phe1297_Asp1298insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe) c.3749_3811dup (p.Phe1270_Asp1271insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe) c.3680_3742dup (p.Phe1247_Asp1248insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe) c.3548_3610dup (p.Phe1203_Asp1204insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe) c.3416_3478dup (p.Phe1159_Asp1160insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe) | dbSNP gnomAD v2 |
20 | g.32436282G>A | CA510467321 | ASXL1 | c.3570G>A (p.Arg1190=) c.3387G>A (p.Arg1129=) n.5923G>A c.1869+1701G>A (n.1869+1701G>A) c.3555G>A (p.Arg1185=) c.3567G>A (p.Arg1189=) c.3540G>A (p.Arg1180=) c.3486G>A (p.Arg1162=) c.2886G>A (p.Arg962=) c.3834G>A (p.Arg1278=) c.3831G>A (p.Arg1277=) c.3750G>A (p.Arg1250=) c.3681G>A (p.Arg1227=) c.3549G>A (p.Arg1183=) c.3417G>A (p.Arg1139=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436282G>C | CA408563336 | ASXL1 | c.3570G>C (p.Arg1190Ser) c.3387G>C (p.Arg1129Ser) n.5923G>C c.1869+1701G>C (n.1869+1701G>C) c.3555G>C (p.Arg1185Ser) c.3567G>C (p.Arg1189Ser) c.3540G>C (p.Arg1180Ser) c.3486G>C (p.Arg1162Ser) c.2886G>C (p.Arg962Ser) c.3834G>C (p.Arg1278Ser) c.3831G>C (p.Arg1277Ser) c.3750G>C (p.Arg1250Ser) c.3681G>C (p.Arg1227Ser) c.3549G>C (p.Arg1183Ser) c.3417G>C (p.Arg1139Ser) | |
20 | g.32436282G= | CA2360293625 | ASXL1 | c.3570G= (p.Arg1190=) c.3387G= (p.Arg1129=) n.5923G= c.1869+1701G= (n.1869+1701G=) c.3555G= (p.Arg1185=) c.3567G= (p.Arg1189=) c.3540G= (p.Arg1180=) c.3486G= (p.Arg1162=) c.2886G= (p.Arg962=) c.3834G= (p.Arg1278=) c.3831G= (p.Arg1277=) c.3750G= (p.Arg1250=) c.3681G= (p.Arg1227=) c.3549G= (p.Arg1183=) c.3417G= (p.Arg1139=) | |
20 | g.32436282G>T | CA408563337 | ASXL1 | c.3570G>T (p.Arg1190Ser) c.3387G>T (p.Arg1129Ser) n.5923G>T c.1869+1701G>T (n.1869+1701G>T) c.3555G>T (p.Arg1185Ser) c.3567G>T (p.Arg1189Ser) c.3540G>T (p.Arg1180Ser) c.3486G>T (p.Arg1162Ser) c.2886G>T (p.Arg962Ser) c.3834G>T (p.Arg1278Ser) c.3831G>T (p.Arg1277Ser) c.3750G>T (p.Arg1250Ser) c.3681G>T (p.Arg1227Ser) c.3549G>T (p.Arg1183Ser) c.3417G>T (p.Arg1139Ser) | |
20 | g.32436283A= | CA2360293626 | ASXL1 | c.3571A= (p.Ile1191=) c.3388A= (p.Ile1130=) n.5924A= c.1869+1702A= (n.1869+1702A=) c.3556A= (p.Ile1186=) c.3568A= (p.Ile1190=) c.3541A= (p.Ile1181=) c.3487A= (p.Ile1163=) c.2887A= (p.Ile963=) c.3835A= (p.Ile1279=) c.3832A= (p.Ile1278=) c.3751A= (p.Ile1251=) c.3682A= (p.Ile1228=) c.3550A= (p.Ile1184=) c.3418A= (p.Ile1140=) | |
20 | g.32436283A>C | CA408563338 | ASXL1 | c.3571A>C (p.Ile1191Leu) c.3388A>C (p.Ile1130Leu) n.5924A>C c.1869+1702A>C (n.1869+1702A>C) c.3556A>C (p.Ile1186Leu) c.3568A>C (p.Ile1190Leu) c.3541A>C (p.Ile1181Leu) c.3487A>C (p.Ile1163Leu) c.2887A>C (p.Ile963Leu) c.3835A>C (p.Ile1279Leu) c.3832A>C (p.Ile1278Leu) c.3751A>C (p.Ile1251Leu) c.3682A>C (p.Ile1228Leu) c.3550A>C (p.Ile1184Leu) c.3418A>C (p.Ile1140Leu) | |
20 | g.32436283A>G | CA9808855 | ASXL1 | c.3571A>G (p.Ile1191Val) c.3388A>G (p.Ile1130Val) n.5924A>G c.1869+1702A>G (n.1869+1702A>G) c.3556A>G (p.Ile1186Val) c.3568A>G (p.Ile1190Val) c.3541A>G (p.Ile1181Val) c.3487A>G (p.Ile1163Val) c.2887A>G (p.Ile963Val) c.3835A>G (p.Ile1279Val) c.3832A>G (p.Ile1278Val) c.3751A>G (p.Ile1251Val) c.3682A>G (p.Ile1228Val) c.3550A>G (p.Ile1184Val) c.3418A>G (p.Ile1140Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436283A>T | CA9808856 | ASXL1 | c.3571A>T (p.Ile1191Phe) c.3388A>T (p.Ile1130Phe) n.5924A>T c.1869+1702A>T (n.1869+1702A>T) c.3556A>T (p.Ile1186Phe) c.3568A>T (p.Ile1190Phe) c.3541A>T (p.Ile1181Phe) c.3487A>T (p.Ile1163Phe) c.2887A>T (p.Ile963Phe) c.3835A>T (p.Ile1279Phe) c.3832A>T (p.Ile1278Phe) c.3751A>T (p.Ile1251Phe) c.3682A>T (p.Ile1228Phe) c.3550A>T (p.Ile1184Phe) c.3418A>T (p.Ile1140Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436284T>A | CA408563340 | ASXL1 | c.3572T>A (p.Ile1191Asn) c.3389T>A (p.Ile1130Asn) n.5925T>A c.1869+1703T>A (n.1869+1703T>A) c.3557T>A (p.Ile1186Asn) c.3569T>A (p.Ile1190Asn) c.3542T>A (p.Ile1181Asn) c.3488T>A (p.Ile1163Asn) c.2888T>A (p.Ile963Asn) c.3836T>A (p.Ile1279Asn) c.3833T>A (p.Ile1278Asn) c.3752T>A (p.Ile1251Asn) c.3683T>A (p.Ile1228Asn) c.3551T>A (p.Ile1184Asn) c.3419T>A (p.Ile1140Asn) | |
20 | g.32436284T>C | CA408563341 | ASXL1 | c.3572T>C (p.Ile1191Thr) c.3389T>C (p.Ile1130Thr) n.5925T>C c.1869+1703T>C (n.1869+1703T>C) c.3557T>C (p.Ile1186Thr) c.3569T>C (p.Ile1190Thr) c.3542T>C (p.Ile1181Thr) c.3488T>C (p.Ile1163Thr) c.2888T>C (p.Ile963Thr) c.3836T>C (p.Ile1279Thr) c.3833T>C (p.Ile1278Thr) c.3752T>C (p.Ile1251Thr) c.3683T>C (p.Ile1228Thr) c.3551T>C (p.Ile1184Thr) c.3419T>C (p.Ile1140Thr) | dbSNP gnomAD v4 |
20 | g.32436284T>G | CA408563339 | ASXL1 | c.3572T>G (p.Ile1191Ser) c.3389T>G (p.Ile1130Ser) n.5925T>G c.1869+1703T>G (n.1869+1703T>G) c.3557T>G (p.Ile1186Ser) c.3569T>G (p.Ile1190Ser) c.3542T>G (p.Ile1181Ser) c.3488T>G (p.Ile1163Ser) c.2888T>G (p.Ile963Ser) c.3836T>G (p.Ile1279Ser) c.3833T>G (p.Ile1278Ser) c.3752T>G (p.Ile1251Ser) c.3683T>G (p.Ile1228Ser) c.3551T>G (p.Ile1184Ser) c.3419T>G (p.Ile1140Ser) | |
20 | g.32436284T= | CA2360293627 | ASXL1 | c.3572T= (p.Ile1191=) c.3389T= (p.Ile1130=) n.5925T= c.1869+1703T= (n.1869+1703T=) c.3557T= (p.Ile1186=) c.3569T= (p.Ile1190=) c.3542T= (p.Ile1181=) c.3488T= (p.Ile1163=) c.2888T= (p.Ile963=) c.3836T= (p.Ile1279=) c.3833T= (p.Ile1278=) c.3752T= (p.Ile1251=) c.3683T= (p.Ile1228=) c.3551T= (p.Ile1184=) c.3419T= (p.Ile1140=) | |
20 | g.32436285T>A | CA510467325 | ASXL1 | c.3573T>A (p.Ile1191=) c.3390T>A (p.Ile1130=) n.5926T>A c.1869+1704T>A (n.1869+1704T>A) c.3558T>A (p.Ile1186=) c.3570T>A (p.Ile1190=) c.3543T>A (p.Ile1181=) c.3489T>A (p.Ile1163=) c.2889T>A (p.Ile963=) c.3837T>A (p.Ile1279=) c.3834T>A (p.Ile1278=) c.3753T>A (p.Ile1251=) c.3684T>A (p.Ile1228=) c.3552T>A (p.Ile1184=) c.3420T>A (p.Ile1140=) | |
20 | g.32436285T>C | CA9808857 | ASXL1 | c.3573T>C (p.Ile1191=) c.3390T>C (p.Ile1130=) n.5926T>C c.1869+1704T>C (n.1869+1704T>C) c.3558T>C (p.Ile1186=) c.3570T>C (p.Ile1190=) c.3543T>C (p.Ile1181=) c.3489T>C (p.Ile1163=) c.2889T>C (p.Ile963=) c.3837T>C (p.Ile1279=) c.3834T>C (p.Ile1278=) c.3753T>C (p.Ile1251=) c.3684T>C (p.Ile1228=) c.3552T>C (p.Ile1184=) c.3420T>C (p.Ile1140=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436285T>G | CA408563342 | ASXL1 | c.3573T>G (p.Ile1191Met) c.3390T>G (p.Ile1130Met) n.5926T>G c.1869+1704T>G (n.1869+1704T>G) c.3558T>G (p.Ile1186Met) c.3570T>G (p.Ile1190Met) c.3543T>G (p.Ile1181Met) c.3489T>G (p.Ile1163Met) c.2889T>G (p.Ile963Met) c.3837T>G (p.Ile1279Met) c.3834T>G (p.Ile1278Met) c.3753T>G (p.Ile1251Met) c.3684T>G (p.Ile1228Met) c.3552T>G (p.Ile1184Met) c.3420T>G (p.Ile1140Met) | |
20 | g.32436285T= | CA2360293628 | ASXL1 | c.3573T= (p.Ile1191=) c.3390T= (p.Ile1130=) n.5926T= c.1869+1704T= (n.1869+1704T=) c.3558T= (p.Ile1186=) c.3570T= (p.Ile1190=) c.3543T= (p.Ile1181=) c.3489T= (p.Ile1163=) c.2889T= (p.Ile963=) c.3837T= (p.Ile1279=) c.3834T= (p.Ile1278=) c.3753T= (p.Ile1251=) c.3684T= (p.Ile1228=) c.3552T= (p.Ile1184=) c.3420T= (p.Ile1140=) | |
20 | g.32436286G>A | CA408563343 | ASXL1 | c.3574G>A (p.Glu1192Lys) c.3391G>A (p.Glu1131Lys) n.5927G>A c.1869+1705G>A (n.1869+1705G>A) c.3559G>A (p.Glu1187Lys) c.3571G>A (p.Glu1191Lys) c.3544G>A (p.Glu1182Lys) c.3490G>A (p.Glu1164Lys) c.2890G>A (p.Glu964Lys) c.3838G>A (p.Glu1280Lys) c.3835G>A (p.Glu1279Lys) c.3754G>A (p.Glu1252Lys) c.3685G>A (p.Glu1229Lys) c.3553G>A (p.Glu1185Lys) c.3421G>A (p.Glu1141Lys) | |
20 | g.32436286G>C | CA408563344 | ASXL1 | c.3574G>C (p.Glu1192Gln) c.3391G>C (p.Glu1131Gln) n.5927G>C c.1869+1705G>C (n.1869+1705G>C) c.3559G>C (p.Glu1187Gln) c.3571G>C (p.Glu1191Gln) c.3544G>C (p.Glu1182Gln) c.3490G>C (p.Glu1164Gln) c.2890G>C (p.Glu964Gln) c.3838G>C (p.Glu1280Gln) c.3835G>C (p.Glu1279Gln) c.3754G>C (p.Glu1252Gln) c.3685G>C (p.Glu1229Gln) c.3553G>C (p.Glu1185Gln) c.3421G>C (p.Glu1141Gln) | dbSNP |
20 | g.32436286G>T | CA408563345 | ASXL1 | c.3574G>T (p.Glu1192Ter) c.3391G>T (p.Glu1131Ter) n.5927G>T c.1869+1705G>T (n.1869+1705G>T) c.3559G>T (p.Glu1187Ter) c.3571G>T (p.Glu1191Ter) c.3544G>T (p.Glu1182Ter) c.3490G>T (p.Glu1164Ter) c.2890G>T (p.Glu964Ter) c.3838G>T (p.Glu1280Ter) c.3835G>T (p.Glu1279Ter) c.3754G>T (p.Glu1252Ter) c.3685G>T (p.Glu1229Ter) c.3553G>T (p.Glu1185Ter) c.3421G>T (p.Glu1141Ter) | COSMIC |
20 | g.32436287A= | CA2360293629 | ASXL1 | c.3575A= (p.Glu1192=) c.3392A= (p.Glu1131=) n.5928A= c.1869+1706A= (n.1869+1706A=) c.3560A= (p.Glu1187=) c.3572A= (p.Glu1191=) c.3545A= (p.Glu1182=) c.3491A= (p.Glu1164=) c.2891A= (p.Glu964=) c.3839A= (p.Glu1280=) c.3836A= (p.Glu1279=) c.3755A= (p.Glu1252=) c.3686A= (p.Glu1229=) c.3554A= (p.Glu1185=) c.3422A= (p.Glu1141=) | |
20 | g.32436287A>C | CA408563346 | ASXL1 | c.3575A>C (p.Glu1192Ala) c.3392A>C (p.Glu1131Ala) n.5928A>C c.1869+1706A>C (n.1869+1706A>C) c.3560A>C (p.Glu1187Ala) c.3572A>C (p.Glu1191Ala) c.3545A>C (p.Glu1182Ala) c.3491A>C (p.Glu1164Ala) c.2891A>C (p.Glu964Ala) c.3839A>C (p.Glu1280Ala) c.3836A>C (p.Glu1279Ala) c.3755A>C (p.Glu1252Ala) c.3686A>C (p.Glu1229Ala) c.3554A>C (p.Glu1185Ala) c.3422A>C (p.Glu1141Ala) | |
20 | g.32436287A>G | CA408563347 | ASXL1 | c.3575A>G (p.Glu1192Gly) c.3392A>G (p.Glu1131Gly) n.5928A>G c.1869+1706A>G (n.1869+1706A>G) c.3560A>G (p.Glu1187Gly) c.3572A>G (p.Glu1191Gly) c.3545A>G (p.Glu1182Gly) c.3491A>G (p.Glu1164Gly) c.2891A>G (p.Glu964Gly) c.3839A>G (p.Glu1280Gly) c.3836A>G (p.Glu1279Gly) c.3755A>G (p.Glu1252Gly) c.3686A>G (p.Glu1229Gly) c.3554A>G (p.Glu1185Gly) c.3422A>G (p.Glu1141Gly) | |
20 | g.32436287A>T | CA313926352 | ASXL1 | c.3575A>T (p.Glu1192Val) c.3392A>T (p.Glu1131Val) n.5928A>T c.1869+1706A>T (n.1869+1706A>T) c.3560A>T (p.Glu1187Val) c.3572A>T (p.Glu1191Val) c.3545A>T (p.Glu1182Val) c.3491A>T (p.Glu1164Val) c.2891A>T (p.Glu964Val) c.3839A>T (p.Glu1280Val) c.3836A>T (p.Glu1279Val) c.3755A>T (p.Glu1252Val) c.3686A>T (p.Glu1229Val) c.3554A>T (p.Glu1185Val) c.3422A>T (p.Glu1141Val) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436288G>A | CA313926353 | ASXL1 | c.3576G>A (p.Glu1192=) c.3393G>A (p.Glu1131=) n.5929G>A c.1869+1707G>A (n.1869+1707G>A) c.3561G>A (p.Glu1187=) c.3573G>A (p.Glu1191=) c.3546G>A (p.Glu1182=) c.3492G>A (p.Glu1164=) c.2892G>A (p.Glu964=) c.3840G>A (p.Glu1280=) c.3837G>A (p.Glu1279=) c.3756G>A (p.Glu1252=) c.3687G>A (p.Glu1229=) c.3555G>A (p.Glu1185=) c.3423G>A (p.Glu1141=) | dbSNP |
20 | g.32436288G>C | CA408563348 | ASXL1 | c.3576G>C (p.Glu1192Asp) c.3393G>C (p.Glu1131Asp) n.5929G>C c.1869+1707G>C (n.1869+1707G>C) c.3561G>C (p.Glu1187Asp) c.3573G>C (p.Glu1191Asp) c.3546G>C (p.Glu1182Asp) c.3492G>C (p.Glu1164Asp) c.2892G>C (p.Glu964Asp) c.3840G>C (p.Glu1280Asp) c.3837G>C (p.Glu1279Asp) c.3756G>C (p.Glu1252Asp) c.3687G>C (p.Glu1229Asp) c.3555G>C (p.Glu1185Asp) c.3423G>C (p.Glu1141Asp) | |
20 | g.32436288G= | CA2360293630 | ASXL1 | c.3576G= (p.Glu1192=) c.3393G= (p.Glu1131=) n.5929G= c.1869+1707G= (n.1869+1707G=) c.3561G= (p.Glu1187=) c.3573G= (p.Glu1191=) c.3546G= (p.Glu1182=) c.3492G= (p.Glu1164=) c.2892G= (p.Glu964=) c.3840G= (p.Glu1280=) c.3837G= (p.Glu1279=) c.3756G= (p.Glu1252=) c.3687G= (p.Glu1229=) c.3555G= (p.Glu1185=) c.3423G= (p.Glu1141=) | |
20 | g.32436288G>T | CA408563349 | ASXL1 | c.3576G>T (p.Glu1192Asp) c.3393G>T (p.Glu1131Asp) n.5929G>T c.1869+1707G>T (n.1869+1707G>T) c.3561G>T (p.Glu1187Asp) c.3573G>T (p.Glu1191Asp) c.3546G>T (p.Glu1182Asp) c.3492G>T (p.Glu1164Asp) c.2892G>T (p.Glu964Asp) c.3840G>T (p.Glu1280Asp) c.3837G>T (p.Glu1279Asp) c.3756G>T (p.Glu1252Asp) c.3687G>T (p.Glu1229Asp) c.3555G>T (p.Glu1185Asp) c.3423G>T (p.Glu1141Asp) | |
20 | g.32436289G>A | CA408563350 | ASXL1 | c.3577G>A (p.Ala1193Thr) c.3394G>A (p.Ala1132Thr) n.5930G>A c.1869+1708G>A (n.1869+1708G>A) c.3562G>A (p.Ala1188Thr) c.3574G>A (p.Ala1192Thr) c.3547G>A (p.Ala1183Thr) c.3493G>A (p.Ala1165Thr) c.2893G>A (p.Ala965Thr) c.3841G>A (p.Ala1281Thr) c.3838G>A (p.Ala1280Thr) c.3757G>A (p.Ala1253Thr) c.3688G>A (p.Ala1230Thr) c.3556G>A (p.Ala1186Thr) c.3424G>A (p.Ala1142Thr) | dbSNP |
20 | g.32436289G>C | CA408563351 | ASXL1 | c.3577G>C (p.Ala1193Pro) c.3394G>C (p.Ala1132Pro) n.5930G>C c.1869+1708G>C (n.1869+1708G>C) c.3562G>C (p.Ala1188Pro) c.3574G>C (p.Ala1192Pro) c.3547G>C (p.Ala1183Pro) c.3493G>C (p.Ala1165Pro) c.2893G>C (p.Ala965Pro) c.3841G>C (p.Ala1281Pro) c.3838G>C (p.Ala1280Pro) c.3757G>C (p.Ala1253Pro) c.3688G>C (p.Ala1230Pro) c.3556G>C (p.Ala1186Pro) c.3424G>C (p.Ala1142Pro) | |
20 | g.32436289G>T | CA408563352 | ASXL1 | c.3577G>T (p.Ala1193Ser) c.3394G>T (p.Ala1132Ser) n.5930G>T c.1869+1708G>T (n.1869+1708G>T) c.3562G>T (p.Ala1188Ser) c.3574G>T (p.Ala1192Ser) c.3547G>T (p.Ala1183Ser) c.3493G>T (p.Ala1165Ser) c.2893G>T (p.Ala965Ser) c.3841G>T (p.Ala1281Ser) c.3838G>T (p.Ala1280Ser) c.3757G>T (p.Ala1253Ser) c.3688G>T (p.Ala1230Ser) c.3556G>T (p.Ala1186Ser) c.3424G>T (p.Ala1142Ser) | |
20 | g.32436290C>A | CA408563355 | ASXL1 | c.3578C>A (p.Ala1193Asp) c.3395C>A (p.Ala1132Asp) n.5931C>A c.1869+1709C>A (n.1869+1709C>A) c.3563C>A (p.Ala1188Asp) c.3575C>A (p.Ala1192Asp) c.3548C>A (p.Ala1183Asp) c.3494C>A (p.Ala1165Asp) c.2894C>A (p.Ala965Asp) c.3842C>A (p.Ala1281Asp) c.3839C>A (p.Ala1280Asp) c.3758C>A (p.Ala1253Asp) c.3689C>A (p.Ala1230Asp) c.3557C>A (p.Ala1186Asp) c.3425C>A (p.Ala1142Asp) | dbSNP |
20 | g.32436290C>G | CA408563353 | ASXL1 | c.3578C>G (p.Ala1193Gly) c.3395C>G (p.Ala1132Gly) n.5931C>G c.1869+1709C>G (n.1869+1709C>G) c.3563C>G (p.Ala1188Gly) c.3575C>G (p.Ala1192Gly) c.3548C>G (p.Ala1183Gly) c.3494C>G (p.Ala1165Gly) c.2894C>G (p.Ala965Gly) c.3842C>G (p.Ala1281Gly) c.3839C>G (p.Ala1280Gly) c.3758C>G (p.Ala1253Gly) c.3689C>G (p.Ala1230Gly) c.3557C>G (p.Ala1186Gly) c.3425C>G (p.Ala1142Gly) | |
20 | g.32436290C>T | CA408563354 | ASXL1 | c.3578C>T (p.Ala1193Val) c.3395C>T (p.Ala1132Val) n.5931C>T c.1869+1709C>T (n.1869+1709C>T) c.3563C>T (p.Ala1188Val) c.3575C>T (p.Ala1192Val) c.3548C>T (p.Ala1183Val) c.3494C>T (p.Ala1165Val) c.2894C>T (p.Ala965Val) c.3842C>T (p.Ala1281Val) c.3839C>T (p.Ala1280Val) c.3758C>T (p.Ala1253Val) c.3689C>T (p.Ala1230Val) c.3557C>T (p.Ala1186Val) c.3425C>T (p.Ala1142Val) | |
20 | g.32436291C>A | CA510467332 | ASXL1 | c.3579C>A (p.Ala1193=) c.3396C>A (p.Ala1132=) n.5932C>A c.1869+1710C>A (n.1869+1710C>A) c.3564C>A (p.Ala1188=) c.3576C>A (p.Ala1192=) c.3549C>A (p.Ala1183=) c.3495C>A (p.Ala1165=) c.2895C>A (p.Ala965=) c.3843C>A (p.Ala1281=) c.3840C>A (p.Ala1280=) c.3759C>A (p.Ala1253=) c.3690C>A (p.Ala1230=) c.3558C>A (p.Ala1186=) c.3426C>A (p.Ala1142=) | |
20 | g.32436291C>G | CA510467333 | ASXL1 | c.3579C>G (p.Ala1193=) c.3396C>G (p.Ala1132=) n.5932C>G c.1869+1710C>G (n.1869+1710C>G) c.3564C>G (p.Ala1188=) c.3576C>G (p.Ala1192=) c.3549C>G (p.Ala1183=) c.3495C>G (p.Ala1165=) c.2895C>G (p.Ala965=) c.3843C>G (p.Ala1281=) c.3840C>G (p.Ala1280=) c.3759C>G (p.Ala1253=) c.3690C>G (p.Ala1230=) c.3558C>G (p.Ala1186=) c.3426C>G (p.Ala1142=) | |
20 | g.32436291C>T | CA510467335 | ASXL1 | c.3579C>T (p.Ala1193=) c.3396C>T (p.Ala1132=) n.5932C>T c.1869+1710C>T (n.1869+1710C>T) c.3564C>T (p.Ala1188=) c.3576C>T (p.Ala1192=) c.3549C>T (p.Ala1183=) c.3495C>T (p.Ala1165=) c.2895C>T (p.Ala965=) c.3843C>T (p.Ala1281=) c.3840C>T (p.Ala1280=) c.3759C>T (p.Ala1253=) c.3690C>T (p.Ala1230=) c.3558C>T (p.Ala1186=) c.3426C>T (p.Ala1142=) | ClinVar dbSNP gnomAD v4 |
20 | g.32436292A= | CA2360293631 | ASXL1 | c.3580A= (p.Thr1194=) c.3397A= (p.Thr1133=) n.5933A= c.1869+1711A= (n.1869+1711A=) c.3565A= (p.Thr1189=) c.3577A= (p.Thr1193=) c.3550A= (p.Thr1184=) c.3496A= (p.Thr1166=) c.2896A= (p.Thr966=) c.3844A= (p.Thr1282=) c.3841A= (p.Thr1281=) c.3760A= (p.Thr1254=) c.3691A= (p.Thr1231=) c.3559A= (p.Thr1187=) c.3427A= (p.Thr1143=) | |
20 | g.32436292A>C | CA408563356 | ASXL1 | c.3580A>C (p.Thr1194Pro) c.3397A>C (p.Thr1133Pro) n.5933A>C c.1869+1711A>C (n.1869+1711A>C) c.3565A>C (p.Thr1189Pro) c.3577A>C (p.Thr1193Pro) c.3550A>C (p.Thr1184Pro) c.3496A>C (p.Thr1166Pro) c.2896A>C (p.Thr966Pro) c.3844A>C (p.Thr1282Pro) c.3841A>C (p.Thr1281Pro) c.3760A>C (p.Thr1254Pro) c.3691A>C (p.Thr1231Pro) c.3559A>C (p.Thr1187Pro) c.3427A>C (p.Thr1143Pro) | dbSNP gnomAD v4 |
20 | g.32436292A>G | CA408563357 | ASXL1 | c.3580A>G (p.Thr1194Ala) c.3397A>G (p.Thr1133Ala) n.5933A>G c.1869+1711A>G (n.1869+1711A>G) c.3565A>G (p.Thr1189Ala) c.3577A>G (p.Thr1193Ala) c.3550A>G (p.Thr1184Ala) c.3496A>G (p.Thr1166Ala) c.2896A>G (p.Thr966Ala) c.3844A>G (p.Thr1282Ala) c.3841A>G (p.Thr1281Ala) c.3760A>G (p.Thr1254Ala) c.3691A>G (p.Thr1231Ala) c.3559A>G (p.Thr1187Ala) c.3427A>G (p.Thr1143Ala) | |
20 | g.32436292A>T | CA408563358 | ASXL1 | c.3580A>T (p.Thr1194Ser) c.3397A>T (p.Thr1133Ser) n.5933A>T c.1869+1711A>T (n.1869+1711A>T) c.3565A>T (p.Thr1189Ser) c.3577A>T (p.Thr1193Ser) c.3550A>T (p.Thr1184Ser) c.3496A>T (p.Thr1166Ser) c.2896A>T (p.Thr966Ser) c.3844A>T (p.Thr1282Ser) c.3841A>T (p.Thr1281Ser) c.3760A>T (p.Thr1254Ser) c.3691A>T (p.Thr1231Ser) c.3559A>T (p.Thr1187Ser) c.3427A>T (p.Thr1143Ser) | |
20 | g.32436293C>A | CA408563359 | ASXL1 | c.3581C>A (p.Thr1194Asn) c.3398C>A (p.Thr1133Asn) n.5934C>A c.1869+1712C>A (n.1869+1712C>A) c.3566C>A (p.Thr1189Asn) c.3578C>A (p.Thr1193Asn) c.3551C>A (p.Thr1184Asn) c.3497C>A (p.Thr1166Asn) c.2897C>A (p.Thr966Asn) c.3845C>A (p.Thr1282Asn) c.3842C>A (p.Thr1281Asn) c.3761C>A (p.Thr1254Asn) c.3692C>A (p.Thr1231Asn) c.3560C>A (p.Thr1187Asn) c.3428C>A (p.Thr1143Asn) | |
20 | g.32436293C= | CA2360293632 | ASXL1 | c.3581C= (p.Thr1194=) c.3398C= (p.Thr1133=) n.5934C= c.1869+1712C= (n.1869+1712C=) c.3566C= (p.Thr1189=) c.3578C= (p.Thr1193=) c.3551C= (p.Thr1184=) c.3497C= (p.Thr1166=) c.2897C= (p.Thr966=) c.3845C= (p.Thr1282=) c.3842C= (p.Thr1281=) c.3761C= (p.Thr1254=) c.3692C= (p.Thr1231=) c.3560C= (p.Thr1187=) c.3428C= (p.Thr1143=) | |
20 | g.32436293C>G | CA408563360 | ASXL1 | c.3581C>G (p.Thr1194Ser) c.3398C>G (p.Thr1133Ser) n.5934C>G c.1869+1712C>G (n.1869+1712C>G) c.3566C>G (p.Thr1189Ser) c.3578C>G (p.Thr1193Ser) c.3551C>G (p.Thr1184Ser) c.3497C>G (p.Thr1166Ser) c.2897C>G (p.Thr966Ser) c.3845C>G (p.Thr1282Ser) c.3842C>G (p.Thr1281Ser) c.3761C>G (p.Thr1254Ser) c.3692C>G (p.Thr1231Ser) c.3560C>G (p.Thr1187Ser) c.3428C>G (p.Thr1143Ser) | |
20 | g.32436293C>T | CA408563361 | ASXL1 | c.3581C>T (p.Thr1194Ile) c.3398C>T (p.Thr1133Ile) n.5934C>T c.1869+1712C>T (n.1869+1712C>T) c.3566C>T (p.Thr1189Ile) c.3578C>T (p.Thr1193Ile) c.3551C>T (p.Thr1184Ile) c.3497C>T (p.Thr1166Ile) c.2897C>T (p.Thr966Ile) c.3845C>T (p.Thr1282Ile) c.3842C>T (p.Thr1281Ile) c.3761C>T (p.Thr1254Ile) c.3692C>T (p.Thr1231Ile) c.3560C>T (p.Thr1187Ile) c.3428C>T (p.Thr1143Ile) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436295dup | CA1139666672 | ASXL1 | c.3583dup (p.Gln1195ProfsTer17) c.3400dup (p.Gln1134ProfsTer17) n.5936dup c.1869+1714dup (n.1869+1714dup) c.3568dup (p.Gln1190ProfsTer17) c.3580dup (p.Gln1194ProfsTer17) c.3553dup (p.Gln1185ProfsTer17) c.3499dup (p.Gln1167ProfsTer17) c.2899dup (p.Gln967ProfsTer17) c.3847dup (p.Gln1283ProfsTer17) c.3844dup (p.Gln1282ProfsTer17) c.3763dup (p.Gln1255ProfsTer17) c.3694dup (p.Gln1232ProfsTer17) c.3562dup (p.Gln1188ProfsTer17) c.3430dup (p.Gln1144ProfsTer17) | ClinVar dbSNP |
20 | g.32436294C>A | CA510467336 | ASXL1 | c.3582C>A (p.Thr1194=) c.3399C>A (p.Thr1133=) n.5935C>A c.1869+1713C>A (n.1869+1713C>A) c.3567C>A (p.Thr1189=) c.3579C>A (p.Thr1193=) c.3552C>A (p.Thr1184=) c.3498C>A (p.Thr1166=) c.2898C>A (p.Thr966=) c.3846C>A (p.Thr1282=) c.3843C>A (p.Thr1281=) c.3762C>A (p.Thr1254=) c.3693C>A (p.Thr1231=) c.3561C>A (p.Thr1187=) c.3429C>A (p.Thr1143=) | dbSNP |
20 | g.32436294C= | CA2360293633 | ASXL1 | c.3582C= (p.Thr1194=) c.3399C= (p.Thr1133=) n.5935C= c.1869+1713C= (n.1869+1713C=) c.3567C= (p.Thr1189=) c.3579C= (p.Thr1193=) c.3552C= (p.Thr1184=) c.3498C= (p.Thr1166=) c.2898C= (p.Thr966=) c.3846C= (p.Thr1282=) c.3843C= (p.Thr1281=) c.3762C= (p.Thr1254=) c.3693C= (p.Thr1231=) c.3561C= (p.Thr1187=) c.3429C= (p.Thr1143=) | |
20 | g.32436294C>G | CA510467337 | ASXL1 | c.3582C>G (p.Thr1194=) c.3399C>G (p.Thr1133=) n.5935C>G c.1869+1713C>G (n.1869+1713C>G) c.3567C>G (p.Thr1189=) c.3579C>G (p.Thr1193=) c.3552C>G (p.Thr1184=) c.3498C>G (p.Thr1166=) c.2898C>G (p.Thr966=) c.3846C>G (p.Thr1282=) c.3843C>G (p.Thr1281=) c.3762C>G (p.Thr1254=) c.3693C>G (p.Thr1231=) c.3561C>G (p.Thr1187=) c.3429C>G (p.Thr1143=) | |
20 | g.32436294C>T | CA510467338 | ASXL1 | c.3582C>T (p.Thr1194=) c.3399C>T (p.Thr1133=) n.5935C>T c.1869+1713C>T (n.1869+1713C>T) c.3567C>T (p.Thr1189=) c.3579C>T (p.Thr1193=) c.3552C>T (p.Thr1184=) c.3498C>T (p.Thr1166=) c.2898C>T (p.Thr966=) c.3846C>T (p.Thr1282=) c.3843C>T (p.Thr1281=) c.3762C>T (p.Thr1254=) c.3693C>T (p.Thr1231=) c.3561C>T (p.Thr1187=) c.3429C>T (p.Thr1143=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436295C>A | CA408563362 | ASXL1 | c.3583C>A (p.Gln1195Lys) c.3400C>A (p.Gln1134Lys) n.5936C>A c.1869+1714C>A (n.1869+1714C>A) c.3568C>A (p.Gln1190Lys) c.3580C>A (p.Gln1194Lys) c.3553C>A (p.Gln1185Lys) c.3499C>A (p.Gln1167Lys) c.2899C>A (p.Gln967Lys) c.3847C>A (p.Gln1283Lys) c.3844C>A (p.Gln1282Lys) c.3763C>A (p.Gln1255Lys) c.3694C>A (p.Gln1232Lys) c.3562C>A (p.Gln1188Lys) c.3430C>A (p.Gln1144Lys) | |
20 | g.32436295C>G | CA408563363 | ASXL1 | c.3583C>G (p.Gln1195Glu) c.3400C>G (p.Gln1134Glu) n.5936C>G c.1869+1714C>G (n.1869+1714C>G) c.3568C>G (p.Gln1190Glu) c.3580C>G (p.Gln1194Glu) c.3553C>G (p.Gln1185Glu) c.3499C>G (p.Gln1167Glu) c.2899C>G (p.Gln967Glu) c.3847C>G (p.Gln1283Glu) c.3844C>G (p.Gln1282Glu) c.3763C>G (p.Gln1255Glu) c.3694C>G (p.Gln1232Glu) c.3562C>G (p.Gln1188Glu) c.3430C>G (p.Gln1144Glu) | |
20 | g.32436295C>T | CA408563364 | ASXL1 | c.3583C>T (p.Gln1195Ter) c.3400C>T (p.Gln1134Ter) n.5936C>T c.1869+1714C>T (n.1869+1714C>T) c.3568C>T (p.Gln1190Ter) c.3580C>T (p.Gln1194Ter) c.3553C>T (p.Gln1185Ter) c.3499C>T (p.Gln1167Ter) c.2899C>T (p.Gln967Ter) c.3847C>T (p.Gln1283Ter) c.3844C>T (p.Gln1282Ter) c.3763C>T (p.Gln1255Ter) c.3694C>T (p.Gln1232Ter) c.3562C>T (p.Gln1188Ter) c.3430C>T (p.Gln1144Ter) | ClinVar gnomAD v4 |
20 | g.32436296A>C | CA408563365 | ASXL1 | c.3584A>C (p.Gln1195Pro) c.3401A>C (p.Gln1134Pro) n.5937A>C c.1869+1715A>C (n.1869+1715A>C) c.3569A>C (p.Gln1190Pro) c.3581A>C (p.Gln1194Pro) c.3554A>C (p.Gln1185Pro) c.3500A>C (p.Gln1167Pro) c.2900A>C (p.Gln967Pro) c.3848A>C (p.Gln1283Pro) c.3845A>C (p.Gln1282Pro) c.3764A>C (p.Gln1255Pro) c.3695A>C (p.Gln1232Pro) c.3563A>C (p.Gln1188Pro) c.3431A>C (p.Gln1144Pro) | |
20 | g.32436296A>G | CA408563366 | ASXL1 | c.3584A>G (p.Gln1195Arg) c.3401A>G (p.Gln1134Arg) n.5937A>G c.1869+1715A>G (n.1869+1715A>G) c.3569A>G (p.Gln1190Arg) c.3581A>G (p.Gln1194Arg) c.3554A>G (p.Gln1185Arg) c.3500A>G (p.Gln1167Arg) c.2900A>G (p.Gln967Arg) c.3848A>G (p.Gln1283Arg) c.3845A>G (p.Gln1282Arg) c.3764A>G (p.Gln1255Arg) c.3695A>G (p.Gln1232Arg) c.3563A>G (p.Gln1188Arg) c.3431A>G (p.Gln1144Arg) | gnomAD v4 |
20 | g.32436296A>T | CA408563367 | ASXL1 | c.3584A>T (p.Gln1195Leu) c.3401A>T (p.Gln1134Leu) n.5937A>T c.1869+1715A>T (n.1869+1715A>T) c.3569A>T (p.Gln1190Leu) c.3581A>T (p.Gln1194Leu) c.3554A>T (p.Gln1185Leu) c.3500A>T (p.Gln1167Leu) c.2900A>T (p.Gln967Leu) c.3848A>T (p.Gln1283Leu) c.3845A>T (p.Gln1282Leu) c.3764A>T (p.Gln1255Leu) c.3695A>T (p.Gln1232Leu) c.3563A>T (p.Gln1188Leu) c.3431A>T (p.Gln1144Leu) | |
20 | g.32436297G>A | CA510467339 | ASXL1 | c.3585G>A (p.Gln1195=) c.3402G>A (p.Gln1134=) n.5938G>A c.1869+1716G>A (n.1869+1716G>A) c.3570G>A (p.Gln1190=) c.3582G>A (p.Gln1194=) c.3555G>A (p.Gln1185=) c.3501G>A (p.Gln1167=) c.2901G>A (p.Gln967=) c.3849G>A (p.Gln1283=) c.3846G>A (p.Gln1282=) c.3765G>A (p.Gln1255=) c.3696G>A (p.Gln1232=) c.3564G>A (p.Gln1188=) c.3432G>A (p.Gln1144=) | |
20 | g.32436297G>C | CA408563368 | ASXL1 | c.3585G>C (p.Gln1195His) c.3402G>C (p.Gln1134His) n.5938G>C c.1869+1716G>C (n.1869+1716G>C) c.3570G>C (p.Gln1190His) c.3582G>C (p.Gln1194His) c.3555G>C (p.Gln1185His) c.3501G>C (p.Gln1167His) c.2901G>C (p.Gln967His) c.3849G>C (p.Gln1283His) c.3846G>C (p.Gln1282His) c.3765G>C (p.Gln1255His) c.3696G>C (p.Gln1232His) c.3564G>C (p.Gln1188His) c.3432G>C (p.Gln1144His) | dbSNP |
20 | g.32436297G>T | CA408563369 | ASXL1 | c.3585G>T (p.Gln1195His) c.3402G>T (p.Gln1134His) n.5938G>T c.1869+1716G>T (n.1869+1716G>T) c.3570G>T (p.Gln1190His) c.3582G>T (p.Gln1194His) c.3555G>T (p.Gln1185His) c.3501G>T (p.Gln1167His) c.2901G>T (p.Gln967His) c.3849G>T (p.Gln1283His) c.3846G>T (p.Gln1282His) c.3765G>T (p.Gln1255His) c.3696G>T (p.Gln1232His) c.3564G>T (p.Gln1188His) c.3432G>T (p.Gln1144His) | |
20 | g.32436298G>A | CA408563370 | ASXL1 | c.3586G>A (p.Ala1196Thr) c.3403G>A (p.Ala1135Thr) n.5939G>A c.1869+1717G>A (n.1869+1717G>A) c.3571G>A (p.Ala1191Thr) c.3583G>A (p.Ala1195Thr) c.3556G>A (p.Ala1186Thr) c.3502G>A (p.Ala1168Thr) c.2902G>A (p.Ala968Thr) c.3850G>A (p.Ala1284Thr) c.3847G>A (p.Ala1283Thr) c.3766G>A (p.Ala1256Thr) c.3697G>A (p.Ala1233Thr) c.3565G>A (p.Ala1189Thr) c.3433G>A (p.Ala1145Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436298G>C | CA408563371 | ASXL1 | c.3586G>C (p.Ala1196Pro) c.3403G>C (p.Ala1135Pro) n.5939G>C c.1869+1717G>C (n.1869+1717G>C) c.3571G>C (p.Ala1191Pro) c.3583G>C (p.Ala1195Pro) c.3556G>C (p.Ala1186Pro) c.3502G>C (p.Ala1168Pro) c.2902G>C (p.Ala968Pro) c.3850G>C (p.Ala1284Pro) c.3847G>C (p.Ala1283Pro) c.3766G>C (p.Ala1256Pro) c.3697G>C (p.Ala1233Pro) c.3565G>C (p.Ala1189Pro) c.3433G>C (p.Ala1145Pro) | dbSNP |
20 | g.32436298G= | CA2360293634 | ASXL1 | c.3586G= (p.Ala1196=) c.3403G= (p.Ala1135=) n.5939G= c.1869+1717G= (n.1869+1717G=) c.3571G= (p.Ala1191=) c.3583G= (p.Ala1195=) c.3556G= (p.Ala1186=) c.3502G= (p.Ala1168=) c.2902G= (p.Ala968=) c.3850G= (p.Ala1284=) c.3847G= (p.Ala1283=) c.3766G= (p.Ala1256=) c.3697G= (p.Ala1233=) c.3565G= (p.Ala1189=) c.3433G= (p.Ala1145=) | |
20 | g.32436298G>T | CA408563372 | ASXL1 | c.3586G>T (p.Ala1196Ser) c.3403G>T (p.Ala1135Ser) n.5939G>T c.1869+1717G>T (n.1869+1717G>T) c.3571G>T (p.Ala1191Ser) c.3583G>T (p.Ala1195Ser) c.3556G>T (p.Ala1186Ser) c.3502G>T (p.Ala1168Ser) c.2902G>T (p.Ala968Ser) c.3850G>T (p.Ala1284Ser) c.3847G>T (p.Ala1283Ser) c.3766G>T (p.Ala1256Ser) c.3697G>T (p.Ala1233Ser) c.3565G>T (p.Ala1189Ser) c.3433G>T (p.Ala1145Ser) | |
20 | g.32436299C>A | CA408563373 | ASXL1 | c.3587C>A (p.Ala1196Asp) c.3404C>A (p.Ala1135Asp) n.5940C>A c.1869+1718C>A (n.1869+1718C>A) c.3572C>A (p.Ala1191Asp) c.3584C>A (p.Ala1195Asp) c.3557C>A (p.Ala1186Asp) c.3503C>A (p.Ala1168Asp) c.2903C>A (p.Ala968Asp) c.3851C>A (p.Ala1284Asp) c.3848C>A (p.Ala1283Asp) c.3767C>A (p.Ala1256Asp) c.3698C>A (p.Ala1233Asp) c.3566C>A (p.Ala1189Asp) c.3434C>A (p.Ala1145Asp) | dbSNP |
20 | g.32436299C= | CA2360293635 | ASXL1 | c.3587C= (p.Ala1196=) c.3404C= (p.Ala1135=) n.5940C= c.1869+1718C= (n.1869+1718C=) c.3572C= (p.Ala1191=) c.3584C= (p.Ala1195=) c.3557C= (p.Ala1186=) c.3503C= (p.Ala1168=) c.2903C= (p.Ala968=) c.3851C= (p.Ala1284=) c.3848C= (p.Ala1283=) c.3767C= (p.Ala1256=) c.3698C= (p.Ala1233=) c.3566C= (p.Ala1189=) c.3434C= (p.Ala1145=) | |
20 | g.32436299C>G | CA408563374 | ASXL1 | c.3587C>G (p.Ala1196Gly) c.3404C>G (p.Ala1135Gly) n.5940C>G c.1869+1718C>G (n.1869+1718C>G) c.3572C>G (p.Ala1191Gly) c.3584C>G (p.Ala1195Gly) c.3557C>G (p.Ala1186Gly) c.3503C>G (p.Ala1168Gly) c.2903C>G (p.Ala968Gly) c.3851C>G (p.Ala1284Gly) c.3848C>G (p.Ala1283Gly) c.3767C>G (p.Ala1256Gly) c.3698C>G (p.Ala1233Gly) c.3566C>G (p.Ala1189Gly) c.3434C>G (p.Ala1145Gly) | |
20 | g.32436299C>T | CA9808858 | ASXL1 | c.3587C>T (p.Ala1196Val) c.3404C>T (p.Ala1135Val) n.5940C>T c.1869+1718C>T (n.1869+1718C>T) c.3572C>T (p.Ala1191Val) c.3584C>T (p.Ala1195Val) c.3557C>T (p.Ala1186Val) c.3503C>T (p.Ala1168Val) c.2903C>T (p.Ala968Val) c.3851C>T (p.Ala1284Val) c.3848C>T (p.Ala1283Val) c.3767C>T (p.Ala1256Val) c.3698C>T (p.Ala1233Val) c.3566C>T (p.Ala1189Val) c.3434C>T (p.Ala1145Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.32436300T>A | CA510467341 | ASXL1 | c.3588T>A (p.Ala1196=) c.3405T>A (p.Ala1135=) n.5941T>A c.1869+1719T>A (n.1869+1719T>A) c.3573T>A (p.Ala1191=) c.3585T>A (p.Ala1195=) c.3558T>A (p.Ala1186=) c.3504T>A (p.Ala1168=) c.2904T>A (p.Ala968=) c.3852T>A (p.Ala1284=) c.3849T>A (p.Ala1283=) c.3768T>A (p.Ala1256=) c.3699T>A (p.Ala1233=) c.3567T>A (p.Ala1189=) c.3435T>A (p.Ala1145=) | |
20 | g.32436300T>C | CA510467342 | ASXL1 | c.3588T>C (p.Ala1196=) c.3405T>C (p.Ala1135=) n.5941T>C c.1869+1719T>C (n.1869+1719T>C) c.3573T>C (p.Ala1191=) c.3585T>C (p.Ala1195=) c.3558T>C (p.Ala1186=) c.3504T>C (p.Ala1168=) c.2904T>C (p.Ala968=) c.3852T>C (p.Ala1284=) c.3849T>C (p.Ala1283=) c.3768T>C (p.Ala1256=) c.3699T>C (p.Ala1233=) c.3567T>C (p.Ala1189=) c.3435T>C (p.Ala1145=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436300T>G | CA510467343 | ASXL1 | c.3588T>G (p.Ala1196=) c.3405T>G (p.Ala1135=) n.5941T>G c.1869+1719T>G (n.1869+1719T>G) c.3573T>G (p.Ala1191=) c.3585T>G (p.Ala1195=) c.3558T>G (p.Ala1186=) c.3504T>G (p.Ala1168=) c.2904T>G (p.Ala968=) c.3852T>G (p.Ala1284=) c.3849T>G (p.Ala1283=) c.3768T>G (p.Ala1256=) c.3699T>G (p.Ala1233=) c.3567T>G (p.Ala1189=) c.3435T>G (p.Ala1145=) | |
20 | g.32436300T= | CA2360293636 | ASXL1 | c.3588T= (p.Ala1196=) c.3405T= (p.Ala1135=) n.5941T= c.1869+1719T= (n.1869+1719T=) c.3573T= (p.Ala1191=) c.3585T= (p.Ala1195=) c.3558T= (p.Ala1186=) c.3504T= (p.Ala1168=) c.2904T= (p.Ala968=) c.3852T= (p.Ala1284=) c.3849T= (p.Ala1283=) c.3768T= (p.Ala1256=) c.3699T= (p.Ala1233=) c.3567T= (p.Ala1189=) c.3435T= (p.Ala1145=) | |
20 | g.32436301C>A | CA408563375 | ASXL1 | c.3589C>A (p.Pro1197Thr) c.3406C>A (p.Pro1136Thr) n.5942C>A c.1869+1720C>A (n.1869+1720C>A) c.3574C>A (p.Pro1192Thr) c.3586C>A (p.Pro1196Thr) c.3559C>A (p.Pro1187Thr) c.3505C>A (p.Pro1169Thr) c.2905C>A (p.Pro969Thr) c.3853C>A (p.Pro1285Thr) c.3850C>A (p.Pro1284Thr) c.3769C>A (p.Pro1257Thr) c.3700C>A (p.Pro1234Thr) c.3568C>A (p.Pro1190Thr) c.3436C>A (p.Pro1146Thr) | |
20 | g.32436301C= | CA2360293637 | ASXL1 | c.3589C= (p.Pro1197=) c.3406C= (p.Pro1136=) n.5942C= c.1869+1720C= (n.1869+1720C=) c.3574C= (p.Pro1192=) c.3586C= (p.Pro1196=) c.3559C= (p.Pro1187=) c.3505C= (p.Pro1169=) c.2905C= (p.Pro969=) c.3853C= (p.Pro1285=) c.3850C= (p.Pro1284=) c.3769C= (p.Pro1257=) c.3700C= (p.Pro1234=) c.3568C= (p.Pro1190=) c.3436C= (p.Pro1146=) | |
20 | g.32436301C>G | CA408563376 | ASXL1 | c.3589C>G (p.Pro1197Ala) c.3406C>G (p.Pro1136Ala) n.5942C>G c.1869+1720C>G (n.1869+1720C>G) c.3574C>G (p.Pro1192Ala) c.3586C>G (p.Pro1196Ala) c.3559C>G (p.Pro1187Ala) c.3505C>G (p.Pro1169Ala) c.2905C>G (p.Pro969Ala) c.3853C>G (p.Pro1285Ala) c.3850C>G (p.Pro1284Ala) c.3769C>G (p.Pro1257Ala) c.3700C>G (p.Pro1234Ala) c.3568C>G (p.Pro1190Ala) c.3436C>G (p.Pro1146Ala) | |
20 | g.32436301C>T | CA9808859 | ASXL1 | c.3589C>T (p.Pro1197Ser) c.3406C>T (p.Pro1136Ser) n.5942C>T c.1869+1720C>T (n.1869+1720C>T) c.3574C>T (p.Pro1192Ser) c.3586C>T (p.Pro1196Ser) c.3559C>T (p.Pro1187Ser) c.3505C>T (p.Pro1169Ser) c.2905C>T (p.Pro969Ser) c.3853C>T (p.Pro1285Ser) c.3850C>T (p.Pro1284Ser) c.3769C>T (p.Pro1257Ser) c.3700C>T (p.Pro1234Ser) c.3568C>T (p.Pro1190Ser) c.3436C>T (p.Pro1146Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436302del | CA2652401230 | ASXL1 | c.3590del (p.Pro1197LeufsTer20) c.3407del (p.Pro1136LeufsTer20) n.5943del c.1869+1721del (n.1869+1721del) c.3575del (p.Pro1192LeufsTer20) c.3587del (p.Pro1196LeufsTer20) c.3560del (p.Pro1187LeufsTer20) c.3506del (p.Pro1169LeufsTer20) c.2906del (p.Pro969LeufsTer20) c.3854del (p.Pro1285LeufsTer20) c.3851del (p.Pro1284LeufsTer20) c.3770del (p.Pro1257LeufsTer20) c.3701del (p.Pro1234LeufsTer20) c.3569del (p.Pro1190LeufsTer20) c.3437del (p.Pro1146LeufsTer20) | gnomAD v4 |
20 | g.32436302C>A | CA408563377 | ASXL1 | c.3590C>A (p.Pro1197His) c.3407C>A (p.Pro1136His) n.5943C>A c.1869+1721C>A (n.1869+1721C>A) c.3575C>A (p.Pro1192His) c.3587C>A (p.Pro1196His) c.3560C>A (p.Pro1187His) c.3506C>A (p.Pro1169His) c.2906C>A (p.Pro969His) c.3854C>A (p.Pro1285His) c.3851C>A (p.Pro1284His) c.3770C>A (p.Pro1257His) c.3701C>A (p.Pro1234His) c.3569C>A (p.Pro1190His) c.3437C>A (p.Pro1146His) | |
20 | g.32436302C>G | CA408563378 | ASXL1 | c.3590C>G (p.Pro1197Arg) c.3407C>G (p.Pro1136Arg) n.5943C>G c.1869+1721C>G (n.1869+1721C>G) c.3575C>G (p.Pro1192Arg) c.3587C>G (p.Pro1196Arg) c.3560C>G (p.Pro1187Arg) c.3506C>G (p.Pro1169Arg) c.2906C>G (p.Pro969Arg) c.3854C>G (p.Pro1285Arg) c.3851C>G (p.Pro1284Arg) c.3770C>G (p.Pro1257Arg) c.3701C>G (p.Pro1234Arg) c.3569C>G (p.Pro1190Arg) c.3437C>G (p.Pro1146Arg) | dbSNP |
20 | g.32436302C>T | CA408563379 | ASXL1 | c.3590C>T (p.Pro1197Leu) c.3407C>T (p.Pro1136Leu) n.5943C>T c.1869+1721C>T (n.1869+1721C>T) c.3575C>T (p.Pro1192Leu) c.3587C>T (p.Pro1196Leu) c.3560C>T (p.Pro1187Leu) c.3506C>T (p.Pro1169Leu) c.2906C>T (p.Pro969Leu) c.3854C>T (p.Pro1285Leu) c.3851C>T (p.Pro1284Leu) c.3770C>T (p.Pro1257Leu) c.3701C>T (p.Pro1234Leu) c.3569C>T (p.Pro1190Leu) c.3437C>T (p.Pro1146Leu) | |
20 | g.32436303T>A | CA510467344 | ASXL1 | c.3591T>A (p.Pro1197=) c.3408T>A (p.Pro1136=) n.5944T>A c.1869+1722T>A (n.1869+1722T>A) c.3576T>A (p.Pro1192=) c.3588T>A (p.Pro1196=) c.3561T>A (p.Pro1187=) c.3507T>A (p.Pro1169=) c.2907T>A (p.Pro969=) c.3855T>A (p.Pro1285=) c.3852T>A (p.Pro1284=) c.3771T>A (p.Pro1257=) c.3702T>A (p.Pro1234=) c.3570T>A (p.Pro1190=) c.3438T>A (p.Pro1146=) | |
20 | g.32436303T>C | CA510467345 | ASXL1 | c.3591T>C (p.Pro1197=) c.3408T>C (p.Pro1136=) n.5944T>C c.1869+1722T>C (n.1869+1722T>C) c.3576T>C (p.Pro1192=) c.3588T>C (p.Pro1196=) c.3561T>C (p.Pro1187=) c.3507T>C (p.Pro1169=) c.2907T>C (p.Pro969=) c.3855T>C (p.Pro1285=) c.3852T>C (p.Pro1284=) c.3771T>C (p.Pro1257=) c.3702T>C (p.Pro1234=) c.3570T>C (p.Pro1190=) c.3438T>C (p.Pro1146=) | |
20 | g.32436303T>G | CA510467346 | ASXL1 | c.3591T>G (p.Pro1197=) c.3408T>G (p.Pro1136=) n.5944T>G c.1869+1722T>G (n.1869+1722T>G) c.3576T>G (p.Pro1192=) c.3588T>G (p.Pro1196=) c.3561T>G (p.Pro1187=) c.3507T>G (p.Pro1169=) c.2907T>G (p.Pro969=) c.3855T>G (p.Pro1285=) c.3852T>G (p.Pro1284=) c.3771T>G (p.Pro1257=) c.3702T>G (p.Pro1234=) c.3570T>G (p.Pro1190=) c.3438T>G (p.Pro1146=) | |
20 | g.32436304G>A | CA408563382 | ASXL1 | c.3592G>A (p.Gly1198Arg) c.3409G>A (p.Gly1137Arg) n.5945G>A c.1869+1723G>A (n.1869+1723G>A) c.3577G>A (p.Gly1193Arg) c.3589G>A (p.Gly1197Arg) c.3562G>A (p.Gly1188Arg) c.3508G>A (p.Gly1170Arg) c.2908G>A (p.Gly970Arg) c.3856G>A (p.Gly1286Arg) c.3853G>A (p.Gly1285Arg) c.3772G>A (p.Gly1258Arg) c.3703G>A (p.Gly1235Arg) c.3571G>A (p.Gly1191Arg) c.3439G>A (p.Gly1147Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436304G>C | CA408563380 | ASXL1 | c.3592G>C (p.Gly1198Arg) c.3409G>C (p.Gly1137Arg) n.5945G>C c.1869+1723G>C (n.1869+1723G>C) c.3577G>C (p.Gly1193Arg) c.3589G>C (p.Gly1197Arg) c.3562G>C (p.Gly1188Arg) c.3508G>C (p.Gly1170Arg) c.2908G>C (p.Gly970Arg) c.3856G>C (p.Gly1286Arg) c.3853G>C (p.Gly1285Arg) c.3772G>C (p.Gly1258Arg) c.3703G>C (p.Gly1235Arg) c.3571G>C (p.Gly1191Arg) c.3439G>C (p.Gly1147Arg) | |
20 | g.32436304G= | CA2360293638 | ASXL1 | c.3592G= (p.Gly1198=) c.3409G= (p.Gly1137=) n.5945G= c.1869+1723G= (n.1869+1723G=) c.3577G= (p.Gly1193=) c.3589G= (p.Gly1197=) c.3562G= (p.Gly1188=) c.3508G= (p.Gly1170=) c.2908G= (p.Gly970=) c.3856G= (p.Gly1286=) c.3853G= (p.Gly1285=) c.3772G= (p.Gly1258=) c.3703G= (p.Gly1235=) c.3571G= (p.Gly1191=) c.3439G= (p.Gly1147=) | |
20 | g.32436304G>T | CA408563381 | ASXL1 | c.3592G>T (p.Gly1198Ter) c.3409G>T (p.Gly1137Ter) n.5945G>T c.1869+1723G>T (n.1869+1723G>T) c.3577G>T (p.Gly1193Ter) c.3589G>T (p.Gly1197Ter) c.3562G>T (p.Gly1188Ter) c.3508G>T (p.Gly1170Ter) c.2908G>T (p.Gly970Ter) c.3856G>T (p.Gly1286Ter) c.3853G>T (p.Gly1285Ter) c.3772G>T (p.Gly1258Ter) c.3703G>T (p.Gly1235Ter) c.3571G>T (p.Gly1191Ter) c.3439G>T (p.Gly1147Ter) | |
20 | g.32436305G>A | CA408563383 | ASXL1 | c.3593G>A (p.Gly1198Glu) c.3410G>A (p.Gly1137Glu) n.5946G>A c.1869+1724G>A (n.1869+1724G>A) c.3578G>A (p.Gly1193Glu) c.3590G>A (p.Gly1197Glu) c.3563G>A (p.Gly1188Glu) c.3509G>A (p.Gly1170Glu) c.2909G>A (p.Gly970Glu) c.3857G>A (p.Gly1286Glu) c.3854G>A (p.Gly1285Glu) c.3773G>A (p.Gly1258Glu) c.3704G>A (p.Gly1235Glu) c.3572G>A (p.Gly1191Glu) c.3440G>A (p.Gly1147Glu) | |
20 | g.32436305G>C | CA408563384 | ASXL1 | c.3593G>C (p.Gly1198Ala) c.3410G>C (p.Gly1137Ala) n.5946G>C c.1869+1724G>C (n.1869+1724G>C) c.3578G>C (p.Gly1193Ala) c.3590G>C (p.Gly1197Ala) c.3563G>C (p.Gly1188Ala) c.3509G>C (p.Gly1170Ala) c.2909G>C (p.Gly970Ala) c.3857G>C (p.Gly1286Ala) c.3854G>C (p.Gly1285Ala) c.3773G>C (p.Gly1258Ala) c.3704G>C (p.Gly1235Ala) c.3572G>C (p.Gly1191Ala) c.3440G>C (p.Gly1147Ala) | |
20 | g.32436305G>T | CA408563385 | ASXL1 | c.3593G>T (p.Gly1198Val) c.3410G>T (p.Gly1137Val) n.5946G>T c.1869+1724G>T (n.1869+1724G>T) c.3578G>T (p.Gly1193Val) c.3590G>T (p.Gly1197Val) c.3563G>T (p.Gly1188Val) c.3509G>T (p.Gly1170Val) c.2909G>T (p.Gly970Val) c.3857G>T (p.Gly1286Val) c.3854G>T (p.Gly1285Val) c.3773G>T (p.Gly1258Val) c.3704G>T (p.Gly1235Val) c.3572G>T (p.Gly1191Val) c.3440G>T (p.Gly1147Val) | COSMIC COSMIC |
20 | g.32436306A>C | CA510467347 | ASXL1 | c.3594A>C (p.Gly1198=) c.3411A>C (p.Gly1137=) n.5947A>C c.1869+1725A>C (n.1869+1725A>C) c.3579A>C (p.Gly1193=) c.3591A>C (p.Gly1197=) c.3564A>C (p.Gly1188=) c.3510A>C (p.Gly1170=) c.2910A>C (p.Gly970=) c.3858A>C (p.Gly1286=) c.3855A>C (p.Gly1285=) c.3774A>C (p.Gly1258=) c.3705A>C (p.Gly1235=) c.3573A>C (p.Gly1191=) c.3441A>C (p.Gly1147=) | |
20 | g.32436306A>G | CA510467348 | ASXL1 | c.3594A>G (p.Gly1198=) c.3411A>G (p.Gly1137=) n.5947A>G c.1869+1725A>G (n.1869+1725A>G) c.3579A>G (p.Gly1193=) c.3591A>G (p.Gly1197=) c.3564A>G (p.Gly1188=) c.3510A>G (p.Gly1170=) c.2910A>G (p.Gly970=) c.3858A>G (p.Gly1286=) c.3855A>G (p.Gly1285=) c.3774A>G (p.Gly1258=) c.3705A>G (p.Gly1235=) c.3573A>G (p.Gly1191=) c.3441A>G (p.Gly1147=) | dbSNP |
20 | g.32436306A>T | CA510467349 | ASXL1 | c.3594A>T (p.Gly1198=) c.3411A>T (p.Gly1137=) n.5947A>T c.1869+1725A>T (n.1869+1725A>T) c.3579A>T (p.Gly1193=) c.3591A>T (p.Gly1197=) c.3564A>T (p.Gly1188=) c.3510A>T (p.Gly1170=) c.2910A>T (p.Gly970=) c.3858A>T (p.Gly1286=) c.3855A>T (p.Gly1285=) c.3774A>T (p.Gly1258=) c.3705A>T (p.Gly1235=) c.3573A>T (p.Gly1191=) c.3441A>T (p.Gly1147=) | dbSNP |
20 | g.32436308_32436318del | CA2695229722 | ASXL1 | c.3596_3606del (p.Ala1199GlufsTer9) c.3413_3423del (p.Ala1138GlufsTer9) n.5949_5959del c.1869+1727_1869+1737del (n.1869+1727_1869+1737del) c.3581_3591del (p.Ala1194GlufsTer9) c.3593_3603del (p.Ala1198GlufsTer9) c.3566_3576del (p.Ala1189GlufsTer9) c.3512_3522del (p.Ala1171GlufsTer9) c.2912_2922del (p.Ala971GlufsTer9) c.3860_3870del (p.Ala1287GlufsTer9) c.3857_3867del (p.Ala1286GlufsTer9) c.3776_3786del (p.Ala1259GlufsTer9) c.3707_3717del (p.Ala1236GlufsTer9) c.3575_3585del (p.Ala1192GlufsTer9) c.3443_3453del (p.Ala1148GlufsTer9) | |
20 | g.32436307G>A | CA313926354 | ASXL1 | c.3595G>A (p.Ala1199Thr) c.3412G>A (p.Ala1138Thr) n.5948G>A c.1869+1726G>A (n.1869+1726G>A) c.3580G>A (p.Ala1194Thr) c.3592G>A (p.Ala1198Thr) c.3565G>A (p.Ala1189Thr) c.3511G>A (p.Ala1171Thr) c.2911G>A (p.Ala971Thr) c.3859G>A (p.Ala1287Thr) c.3856G>A (p.Ala1286Thr) c.3775G>A (p.Ala1259Thr) c.3706G>A (p.Ala1236Thr) c.3574G>A (p.Ala1192Thr) c.3442G>A (p.Ala1148Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
20 | g.32436307G>C | CA408563386 | ASXL1 | c.3595G>C (p.Ala1199Pro) c.3412G>C (p.Ala1138Pro) n.5948G>C c.1869+1726G>C (n.1869+1726G>C) c.3580G>C (p.Ala1194Pro) c.3592G>C (p.Ala1198Pro) c.3565G>C (p.Ala1189Pro) c.3511G>C (p.Ala1171Pro) c.2911G>C (p.Ala971Pro) c.3859G>C (p.Ala1287Pro) c.3856G>C (p.Ala1286Pro) c.3775G>C (p.Ala1259Pro) c.3706G>C (p.Ala1236Pro) c.3574G>C (p.Ala1192Pro) c.3442G>C (p.Ala1148Pro) | |
20 | g.32436307G= | CA2360293639 | ASXL1 | c.3595G= (p.Ala1199=) c.3412G= (p.Ala1138=) n.5948G= c.1869+1726G= (n.1869+1726G=) c.3580G= (p.Ala1194=) c.3592G= (p.Ala1198=) c.3565G= (p.Ala1189=) c.3511G= (p.Ala1171=) c.2911G= (p.Ala971=) c.3859G= (p.Ala1287=) c.3856G= (p.Ala1286=) c.3775G= (p.Ala1259=) c.3706G= (p.Ala1236=) c.3574G= (p.Ala1192=) c.3442G= (p.Ala1148=) | |
20 | g.32436307G>T | CA408563387 | ASXL1 | c.3595G>T (p.Ala1199Ser) c.3412G>T (p.Ala1138Ser) n.5948G>T c.1869+1726G>T (n.1869+1726G>T) c.3580G>T (p.Ala1194Ser) c.3592G>T (p.Ala1198Ser) c.3565G>T (p.Ala1189Ser) c.3511G>T (p.Ala1171Ser) c.2911G>T (p.Ala971Ser) c.3859G>T (p.Ala1287Ser) c.3856G>T (p.Ala1286Ser) c.3775G>T (p.Ala1259Ser) c.3706G>T (p.Ala1236Ser) c.3574G>T (p.Ala1192Ser) c.3442G>T (p.Ala1148Ser) | |
20 | g.32436307_32436308dup | CA2582342724 | ASXL1 | c.3595_3596dup (p.Pro1200HisfsTer18) c.3412_3413dup (p.Pro1139HisfsTer18) n.5948_5949dup c.1869+1726_1869+1727dup (n.1869+1726_1869+1727dup) c.3580_3581dup (p.Pro1195HisfsTer18) c.3592_3593dup (p.Pro1199HisfsTer18) c.3565_3566dup (p.Pro1190HisfsTer18) c.3511_3512dup (p.Pro1172HisfsTer18) c.2911_2912dup (p.Pro972HisfsTer18) c.3859_3860dup (p.Pro1288HisfsTer18) c.3856_3857dup (p.Pro1287HisfsTer18) c.3775_3776dup (p.Pro1260HisfsTer18) c.3706_3707dup (p.Pro1237HisfsTer18) c.3574_3575dup (p.Pro1193HisfsTer18) c.3442_3443dup (p.Pro1149HisfsTer18) | ClinVar |
20 | g.32436308C>A | CA408563388 | ASXL1 | c.3596C>A (p.Ala1199Glu) c.3413C>A (p.Ala1138Glu) n.5949C>A c.1869+1727C>A (n.1869+1727C>A) c.3581C>A (p.Ala1194Glu) c.3593C>A (p.Ala1198Glu) c.3566C>A (p.Ala1189Glu) c.3512C>A (p.Ala1171Glu) c.2912C>A (p.Ala971Glu) c.3860C>A (p.Ala1287Glu) c.3857C>A (p.Ala1286Glu) c.3776C>A (p.Ala1259Glu) c.3707C>A (p.Ala1236Glu) c.3575C>A (p.Ala1192Glu) c.3443C>A (p.Ala1148Glu) | dbSNP |
20 | g.32436308C= | CA2360293640 | ASXL1 | c.3596C= (p.Ala1199=) c.3413C= (p.Ala1138=) n.5949C= c.1869+1727C= (n.1869+1727C=) c.3581C= (p.Ala1194=) c.3593C= (p.Ala1198=) c.3566C= (p.Ala1189=) c.3512C= (p.Ala1171=) c.2912C= (p.Ala971=) c.3860C= (p.Ala1287=) c.3857C= (p.Ala1286=) c.3776C= (p.Ala1259=) c.3707C= (p.Ala1236=) c.3575C= (p.Ala1192=) c.3443C= (p.Ala1148=) | |
20 | g.32436308C>G | CA408563389 | ASXL1 | c.3596C>G (p.Ala1199Gly) c.3413C>G (p.Ala1138Gly) n.5949C>G c.1869+1727C>G (n.1869+1727C>G) c.3581C>G (p.Ala1194Gly) c.3593C>G (p.Ala1198Gly) c.3566C>G (p.Ala1189Gly) c.3512C>G (p.Ala1171Gly) c.2912C>G (p.Ala971Gly) c.3860C>G (p.Ala1287Gly) c.3857C>G (p.Ala1286Gly) c.3776C>G (p.Ala1259Gly) c.3707C>G (p.Ala1236Gly) c.3575C>G (p.Ala1192Gly) c.3443C>G (p.Ala1148Gly) | |
20 | g.32436308C>T | CA408563390 | ASXL1 | c.3596C>T (p.Ala1199Val) c.3413C>T (p.Ala1138Val) n.5949C>T c.1869+1727C>T (n.1869+1727C>T) c.3581C>T (p.Ala1194Val) c.3593C>T (p.Ala1198Val) c.3566C>T (p.Ala1189Val) c.3512C>T (p.Ala1171Val) c.2912C>T (p.Ala971Val) c.3860C>T (p.Ala1287Val) c.3857C>T (p.Ala1286Val) c.3776C>T (p.Ala1259Val) c.3707C>T (p.Ala1236Val) c.3575C>T (p.Ala1192Val) c.3443C>T (p.Ala1148Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436309A>C | CA510467350 | ASXL1 | c.3597A>C (p.Ala1199=) c.3414A>C (p.Ala1138=) n.5950A>C c.1869+1728A>C (n.1869+1728A>C) c.3582A>C (p.Ala1194=) c.3594A>C (p.Ala1198=) c.3567A>C (p.Ala1189=) c.3513A>C (p.Ala1171=) c.2913A>C (p.Ala971=) c.3861A>C (p.Ala1287=) c.3858A>C (p.Ala1286=) c.3777A>C (p.Ala1259=) c.3708A>C (p.Ala1236=) c.3576A>C (p.Ala1192=) c.3444A>C (p.Ala1148=) | |
20 | g.32436309A>G | CA510467351 | ASXL1 | c.3597A>G (p.Ala1199=) c.3414A>G (p.Ala1138=) n.5950A>G c.1869+1728A>G (n.1869+1728A>G) c.3582A>G (p.Ala1194=) c.3594A>G (p.Ala1198=) c.3567A>G (p.Ala1189=) c.3513A>G (p.Ala1171=) c.2913A>G (p.Ala971=) c.3861A>G (p.Ala1287=) c.3858A>G (p.Ala1286=) c.3777A>G (p.Ala1259=) c.3708A>G (p.Ala1236=) c.3576A>G (p.Ala1192=) c.3444A>G (p.Ala1148=) | |
20 | g.32436309A>T | CA510467352 | ASXL1 | c.3597A>T (p.Ala1199=) c.3414A>T (p.Ala1138=) n.5950A>T c.1869+1728A>T (n.1869+1728A>T) c.3582A>T (p.Ala1194=) c.3594A>T (p.Ala1198=) c.3567A>T (p.Ala1189=) c.3513A>T (p.Ala1171=) c.2913A>T (p.Ala971=) c.3861A>T (p.Ala1287=) c.3858A>T (p.Ala1286=) c.3777A>T (p.Ala1259=) c.3708A>T (p.Ala1236=) c.3576A>T (p.Ala1192=) c.3444A>T (p.Ala1148=) | |
20 | g.32436310C>A | CA408563391 | ASXL1 | c.3598C>A (p.Pro1200Thr) c.3415C>A (p.Pro1139Thr) n.5951C>A c.1869+1729C>A (n.1869+1729C>A) c.3583C>A (p.Pro1195Thr) c.3595C>A (p.Pro1199Thr) c.3568C>A (p.Pro1190Thr) c.3514C>A (p.Pro1172Thr) c.2914C>A (p.Pro972Thr) c.3862C>A (p.Pro1288Thr) c.3859C>A (p.Pro1287Thr) c.3778C>A (p.Pro1260Thr) c.3709C>A (p.Pro1237Thr) c.3577C>A (p.Pro1193Thr) c.3445C>A (p.Pro1149Thr) | |
20 | g.32436310C>G | CA408563392 | ASXL1 | c.3598C>G (p.Pro1200Ala) c.3415C>G (p.Pro1139Ala) n.5951C>G c.1869+1729C>G (n.1869+1729C>G) c.3583C>G (p.Pro1195Ala) c.3595C>G (p.Pro1199Ala) c.3568C>G (p.Pro1190Ala) c.3514C>G (p.Pro1172Ala) c.2914C>G (p.Pro972Ala) c.3862C>G (p.Pro1288Ala) c.3859C>G (p.Pro1287Ala) c.3778C>G (p.Pro1260Ala) c.3709C>G (p.Pro1237Ala) c.3577C>G (p.Pro1193Ala) c.3445C>G (p.Pro1149Ala) | |
20 | g.32436310C>T | CA408563393 | ASXL1 | c.3598C>T (p.Pro1200Ser) c.3415C>T (p.Pro1139Ser) n.5951C>T c.1869+1729C>T (n.1869+1729C>T) c.3583C>T (p.Pro1195Ser) c.3595C>T (p.Pro1199Ser) c.3568C>T (p.Pro1190Ser) c.3514C>T (p.Pro1172Ser) c.2914C>T (p.Pro972Ser) c.3862C>T (p.Pro1288Ser) c.3859C>T (p.Pro1287Ser) c.3778C>T (p.Pro1260Ser) c.3709C>T (p.Pro1237Ser) c.3577C>T (p.Pro1193Ser) c.3445C>T (p.Pro1149Ser) | gnomAD v4 COSMIC COSMIC |
20 | g.32436313del | CA2695229723 | ASXL1 | c.3601del (p.Gln1201LysfsTer16) c.3418del (p.Gln1140LysfsTer16) n.5954del c.1869+1732del (n.1869+1732del) c.3586del (p.Gln1196LysfsTer16) c.3598del (p.Gln1200LysfsTer16) c.3571del (p.Gln1191LysfsTer16) c.3517del (p.Gln1173LysfsTer16) c.2917del (p.Gln973LysfsTer16) c.3865del (p.Gln1289LysfsTer16) c.3862del (p.Gln1288LysfsTer16) c.3781del (p.Gln1261LysfsTer16) c.3712del (p.Gln1238LysfsTer16) c.3580del (p.Gln1194LysfsTer16) c.3448del (p.Gln1150LysfsTer16) | |
20 | g.32436311C>A | CA408563394 | ASXL1 | c.3599C>A (p.Pro1200His) c.3416C>A (p.Pro1139His) n.5952C>A c.1869+1730C>A (n.1869+1730C>A) c.3584C>A (p.Pro1195His) c.3596C>A (p.Pro1199His) c.3569C>A (p.Pro1190His) c.3515C>A (p.Pro1172His) c.2915C>A (p.Pro972His) c.3863C>A (p.Pro1288His) c.3860C>A (p.Pro1287His) c.3779C>A (p.Pro1260His) c.3710C>A (p.Pro1237His) c.3578C>A (p.Pro1193His) c.3446C>A (p.Pro1149His) | dbSNP |
20 | g.32436311C= | CA2360293641 | ASXL1 | c.3599C= (p.Pro1200=) c.3416C= (p.Pro1139=) n.5952C= c.1869+1730C= (n.1869+1730C=) c.3584C= (p.Pro1195=) c.3596C= (p.Pro1199=) c.3569C= (p.Pro1190=) c.3515C= (p.Pro1172=) c.2915C= (p.Pro972=) c.3863C= (p.Pro1288=) c.3860C= (p.Pro1287=) c.3779C= (p.Pro1260=) c.3710C= (p.Pro1237=) c.3578C= (p.Pro1193=) c.3446C= (p.Pro1149=) | |
20 | g.32436311C>G | CA408563395 | ASXL1 | c.3599C>G (p.Pro1200Arg) c.3416C>G (p.Pro1139Arg) n.5952C>G c.1869+1730C>G (n.1869+1730C>G) c.3584C>G (p.Pro1195Arg) c.3596C>G (p.Pro1199Arg) c.3569C>G (p.Pro1190Arg) c.3515C>G (p.Pro1172Arg) c.2915C>G (p.Pro972Arg) c.3863C>G (p.Pro1288Arg) c.3860C>G (p.Pro1287Arg) c.3779C>G (p.Pro1260Arg) c.3710C>G (p.Pro1237Arg) c.3578C>G (p.Pro1193Arg) c.3446C>G (p.Pro1149Arg) | gnomAD v4 |
20 | g.32436311C>T | CA9808860 | ASXL1 | c.3599C>T (p.Pro1200Leu) c.3416C>T (p.Pro1139Leu) n.5952C>T c.1869+1730C>T (n.1869+1730C>T) c.3584C>T (p.Pro1195Leu) c.3596C>T (p.Pro1199Leu) c.3569C>T (p.Pro1190Leu) c.3515C>T (p.Pro1172Leu) c.2915C>T (p.Pro972Leu) c.3863C>T (p.Pro1288Leu) c.3860C>T (p.Pro1287Leu) c.3779C>T (p.Pro1260Leu) c.3710C>T (p.Pro1237Leu) c.3578C>T (p.Pro1193Leu) c.3446C>T (p.Pro1149Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436312C>A | CA510467353 | ASXL1 | c.3600C>A (p.Pro1200=) c.3417C>A (p.Pro1139=) n.5953C>A c.1869+1731C>A (n.1869+1731C>A) c.3585C>A (p.Pro1195=) c.3597C>A (p.Pro1199=) c.3570C>A (p.Pro1190=) c.3516C>A (p.Pro1172=) c.2916C>A (p.Pro972=) c.3864C>A (p.Pro1288=) c.3861C>A (p.Pro1287=) c.3780C>A (p.Pro1260=) c.3711C>A (p.Pro1237=) c.3579C>A (p.Pro1193=) c.3447C>A (p.Pro1149=) | dbSNP |
20 | g.32436312C>G | CA510467354 | ASXL1 | c.3600C>G (p.Pro1200=) c.3417C>G (p.Pro1139=) n.5953C>G c.1869+1731C>G (n.1869+1731C>G) c.3585C>G (p.Pro1195=) c.3597C>G (p.Pro1199=) c.3570C>G (p.Pro1190=) c.3516C>G (p.Pro1172=) c.2916C>G (p.Pro972=) c.3864C>G (p.Pro1288=) c.3861C>G (p.Pro1287=) c.3780C>G (p.Pro1260=) c.3711C>G (p.Pro1237=) c.3579C>G (p.Pro1193=) c.3447C>G (p.Pro1149=) | |
20 | g.32436312C>T | CA510467355 | ASXL1 | c.3600C>T (p.Pro1200=) c.3417C>T (p.Pro1139=) n.5953C>T c.1869+1731C>T (n.1869+1731C>T) c.3585C>T (p.Pro1195=) c.3597C>T (p.Pro1199=) c.3570C>T (p.Pro1190=) c.3516C>T (p.Pro1172=) c.2916C>T (p.Pro972=) c.3864C>T (p.Pro1288=) c.3861C>T (p.Pro1287=) c.3780C>T (p.Pro1260=) c.3711C>T (p.Pro1237=) c.3579C>T (p.Pro1193=) c.3447C>T (p.Pro1149=) | |
20 | g.32436313C>A | CA408563398 | ASXL1 | c.3601C>A (p.Gln1201Lys) c.3418C>A (p.Gln1140Lys) n.5954C>A c.1869+1732C>A (n.1869+1732C>A) c.3586C>A (p.Gln1196Lys) c.3598C>A (p.Gln1200Lys) c.3571C>A (p.Gln1191Lys) c.3517C>A (p.Gln1173Lys) c.2917C>A (p.Gln973Lys) c.3865C>A (p.Gln1289Lys) c.3862C>A (p.Gln1288Lys) c.3781C>A (p.Gln1261Lys) c.3712C>A (p.Gln1238Lys) c.3580C>A (p.Gln1194Lys) c.3448C>A (p.Gln1150Lys) | |
20 | g.32436313C>G | CA408563396 | ASXL1 | c.3601C>G (p.Gln1201Glu) c.3418C>G (p.Gln1140Glu) n.5954C>G c.1869+1732C>G (n.1869+1732C>G) c.3586C>G (p.Gln1196Glu) c.3598C>G (p.Gln1200Glu) c.3571C>G (p.Gln1191Glu) c.3517C>G (p.Gln1173Glu) c.2917C>G (p.Gln973Glu) c.3865C>G (p.Gln1289Glu) c.3862C>G (p.Gln1288Glu) c.3781C>G (p.Gln1261Glu) c.3712C>G (p.Gln1238Glu) c.3580C>G (p.Gln1194Glu) c.3448C>G (p.Gln1150Glu) | |
20 | g.32436313C>T | CA408563397 | ASXL1 | c.3601C>T (p.Gln1201Ter) c.3418C>T (p.Gln1140Ter) n.5954C>T c.1869+1732C>T (n.1869+1732C>T) c.3586C>T (p.Gln1196Ter) c.3598C>T (p.Gln1200Ter) c.3571C>T (p.Gln1191Ter) c.3517C>T (p.Gln1173Ter) c.2917C>T (p.Gln973Ter) c.3865C>T (p.Gln1289Ter) c.3862C>T (p.Gln1288Ter) c.3781C>T (p.Gln1261Ter) c.3712C>T (p.Gln1238Ter) c.3580C>T (p.Gln1194Ter) c.3448C>T (p.Gln1150Ter) | |
20 | g.32436314A= | CA2360293642 | ASXL1 | c.3602A= (p.Gln1201=) c.3419A= (p.Gln1140=) n.5955A= c.1869+1733A= (n.1869+1733A=) c.3587A= (p.Gln1196=) c.3599A= (p.Gln1200=) c.3572A= (p.Gln1191=) c.3518A= (p.Gln1173=) c.2918A= (p.Gln973=) c.3866A= (p.Gln1289=) c.3863A= (p.Gln1288=) c.3782A= (p.Gln1261=) c.3713A= (p.Gln1238=) c.3581A= (p.Gln1194=) c.3449A= (p.Gln1150=) | |
20 | g.32436314A>C | CA408563399 | ASXL1 | c.3602A>C (p.Gln1201Pro) c.3419A>C (p.Gln1140Pro) n.5955A>C c.1869+1733A>C (n.1869+1733A>C) c.3587A>C (p.Gln1196Pro) c.3599A>C (p.Gln1200Pro) c.3572A>C (p.Gln1191Pro) c.3518A>C (p.Gln1173Pro) c.2918A>C (p.Gln973Pro) c.3866A>C (p.Gln1289Pro) c.3863A>C (p.Gln1288Pro) c.3782A>C (p.Gln1261Pro) c.3713A>C (p.Gln1238Pro) c.3581A>C (p.Gln1194Pro) c.3449A>C (p.Gln1150Pro) | |
20 | g.32436314A>G | CA9808861 | ASXL1 | c.3602A>G (p.Gln1201Arg) c.3419A>G (p.Gln1140Arg) n.5955A>G c.1869+1733A>G (n.1869+1733A>G) c.3587A>G (p.Gln1196Arg) c.3599A>G (p.Gln1200Arg) c.3572A>G (p.Gln1191Arg) c.3518A>G (p.Gln1173Arg) c.2918A>G (p.Gln973Arg) c.3866A>G (p.Gln1289Arg) c.3863A>G (p.Gln1288Arg) c.3782A>G (p.Gln1261Arg) c.3713A>G (p.Gln1238Arg) c.3581A>G (p.Gln1194Arg) c.3449A>G (p.Gln1150Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436314A>T | CA408563400 | ASXL1 | c.3602A>T (p.Gln1201Leu) c.3419A>T (p.Gln1140Leu) n.5955A>T c.1869+1733A>T (n.1869+1733A>T) c.3587A>T (p.Gln1196Leu) c.3599A>T (p.Gln1200Leu) c.3572A>T (p.Gln1191Leu) c.3518A>T (p.Gln1173Leu) c.2918A>T (p.Gln973Leu) c.3866A>T (p.Gln1289Leu) c.3863A>T (p.Gln1288Leu) c.3782A>T (p.Gln1261Leu) c.3713A>T (p.Gln1238Leu) c.3581A>T (p.Gln1194Leu) c.3449A>T (p.Gln1150Leu) | |
20 | g.32436317dup | CA645612966 | ASXL1 | c.3605dup (p.Asn1203GlufsTer9) c.3422dup (p.Asn1142GlufsTer9) n.5958dup c.1869+1736dup (n.1869+1736dup) c.3590dup (p.Asn1198GlufsTer9) c.3602dup (p.Asn1202GlufsTer9) c.3575dup (p.Asn1193GlufsTer9) c.3521dup (p.Asn1175GlufsTer9) c.2921dup (p.Asn975GlufsTer9) c.3869dup (p.Asn1291GlufsTer9) c.3866dup (p.Asn1290GlufsTer9) c.3785dup (p.Asn1263GlufsTer9) c.3716dup (p.Asn1240GlufsTer9) c.3584dup (p.Asn1196GlufsTer9) c.3452dup (p.Asn1152GlufsTer9) | COSMIC |
20 | g.32436315A= | CA2360293643 | ASXL1 | c.3603A= (p.Gln1201=) c.3420A= (p.Gln1140=) n.5956A= c.1869+1734A= (n.1869+1734A=) c.3588A= (p.Gln1196=) c.3600A= (p.Gln1200=) c.3573A= (p.Gln1191=) c.3519A= (p.Gln1173=) c.2919A= (p.Gln973=) c.3867A= (p.Gln1289=) c.3864A= (p.Gln1288=) c.3783A= (p.Gln1261=) c.3714A= (p.Gln1238=) c.3582A= (p.Gln1194=) c.3450A= (p.Gln1150=) | |
20 | g.32436315A>C | CA408563401 | ASXL1 | c.3603A>C (p.Gln1201His) c.3420A>C (p.Gln1140His) n.5956A>C c.1869+1734A>C (n.1869+1734A>C) c.3588A>C (p.Gln1196His) c.3600A>C (p.Gln1200His) c.3573A>C (p.Gln1191His) c.3519A>C (p.Gln1173His) c.2919A>C (p.Gln973His) c.3867A>C (p.Gln1289His) c.3864A>C (p.Gln1288His) c.3783A>C (p.Gln1261His) c.3714A>C (p.Gln1238His) c.3582A>C (p.Gln1194His) c.3450A>C (p.Gln1150His) | dbSNP |
20 | g.32436315A>G | CA510467356 | ASXL1 | c.3603A>G (p.Gln1201=) c.3420A>G (p.Gln1140=) n.5956A>G c.1869+1734A>G (n.1869+1734A>G) c.3588A>G (p.Gln1196=) c.3600A>G (p.Gln1200=) c.3573A>G (p.Gln1191=) c.3519A>G (p.Gln1173=) c.2919A>G (p.Gln973=) c.3867A>G (p.Gln1289=) c.3864A>G (p.Gln1288=) c.3783A>G (p.Gln1261=) c.3714A>G (p.Gln1238=) c.3582A>G (p.Gln1194=) c.3450A>G (p.Gln1150=) | dbSNP gnomAD v4 |
20 | g.32436315A>T | CA408563402 | ASXL1 | c.3603A>T (p.Gln1201His) c.3420A>T (p.Gln1140His) n.5956A>T c.1869+1734A>T (n.1869+1734A>T) c.3588A>T (p.Gln1196His) c.3600A>T (p.Gln1200His) c.3573A>T (p.Gln1191His) c.3519A>T (p.Gln1173His) c.2919A>T (p.Gln973His) c.3867A>T (p.Gln1289His) c.3864A>T (p.Gln1288His) c.3783A>T (p.Gln1261His) c.3714A>T (p.Gln1238His) c.3582A>T (p.Gln1194His) c.3450A>T (p.Gln1150His) | |
20 | g.32436316A>C | CA408563403 | ASXL1 | c.3604A>C (p.Lys1202Gln) c.3421A>C (p.Lys1141Gln) n.5957A>C c.1869+1735A>C (n.1869+1735A>C) c.3589A>C (p.Lys1197Gln) c.3601A>C (p.Lys1201Gln) c.3574A>C (p.Lys1192Gln) c.3520A>C (p.Lys1174Gln) c.2920A>C (p.Lys974Gln) c.3868A>C (p.Lys1290Gln) c.3865A>C (p.Lys1289Gln) c.3784A>C (p.Lys1262Gln) c.3715A>C (p.Lys1239Gln) c.3583A>C (p.Lys1195Gln) c.3451A>C (p.Lys1151Gln) | |
20 | g.32436316A>G | CA408563404 | ASXL1 | c.3604A>G (p.Lys1202Glu) c.3421A>G (p.Lys1141Glu) n.5957A>G c.1869+1735A>G (n.1869+1735A>G) c.3589A>G (p.Lys1197Glu) c.3601A>G (p.Lys1201Glu) c.3574A>G (p.Lys1192Glu) c.3520A>G (p.Lys1174Glu) c.2920A>G (p.Lys974Glu) c.3868A>G (p.Lys1290Glu) c.3865A>G (p.Lys1289Glu) c.3784A>G (p.Lys1262Glu) c.3715A>G (p.Lys1239Glu) c.3583A>G (p.Lys1195Glu) c.3451A>G (p.Lys1151Glu) | |
20 | g.32436316A>T | CA408563405 | ASXL1 | c.3604A>T (p.Lys1202Ter) c.3421A>T (p.Lys1141Ter) n.5957A>T c.1869+1735A>T (n.1869+1735A>T) c.3589A>T (p.Lys1197Ter) c.3601A>T (p.Lys1201Ter) c.3574A>T (p.Lys1192Ter) c.3520A>T (p.Lys1174Ter) c.2920A>T (p.Lys974Ter) c.3868A>T (p.Lys1290Ter) c.3865A>T (p.Lys1289Ter) c.3784A>T (p.Lys1262Ter) c.3715A>T (p.Lys1239Ter) c.3583A>T (p.Lys1195Ter) c.3451A>T (p.Lys1151Ter) | |
20 | g.32436317A>C | CA408563406 | ASXL1 | c.3605A>C (p.Lys1202Thr) c.3422A>C (p.Lys1141Thr) n.5958A>C c.1869+1736A>C (n.1869+1736A>C) c.3590A>C (p.Lys1197Thr) c.3602A>C (p.Lys1201Thr) c.3575A>C (p.Lys1192Thr) c.3521A>C (p.Lys1174Thr) c.2921A>C (p.Lys974Thr) c.3869A>C (p.Lys1290Thr) c.3866A>C (p.Lys1289Thr) c.3785A>C (p.Lys1262Thr) c.3716A>C (p.Lys1239Thr) c.3584A>C (p.Lys1195Thr) c.3452A>C (p.Lys1151Thr) | |
20 | g.32436317A>G | CA408563407 | ASXL1 | c.3605A>G (p.Lys1202Arg) c.3422A>G (p.Lys1141Arg) n.5958A>G c.1869+1736A>G (n.1869+1736A>G) c.3590A>G (p.Lys1197Arg) c.3602A>G (p.Lys1201Arg) c.3575A>G (p.Lys1192Arg) c.3521A>G (p.Lys1174Arg) c.2921A>G (p.Lys974Arg) c.3869A>G (p.Lys1290Arg) c.3866A>G (p.Lys1289Arg) c.3785A>G (p.Lys1262Arg) c.3716A>G (p.Lys1239Arg) c.3584A>G (p.Lys1195Arg) c.3452A>G (p.Lys1151Arg) | dbSNP |
20 | g.32436317A>T | CA408563408 | ASXL1 | c.3605A>T (p.Lys1202Met) c.3422A>T (p.Lys1141Met) n.5958A>T c.1869+1736A>T (n.1869+1736A>T) c.3590A>T (p.Lys1197Met) c.3602A>T (p.Lys1201Met) c.3575A>T (p.Lys1192Met) c.3521A>T (p.Lys1174Met) c.2921A>T (p.Lys974Met) c.3869A>T (p.Lys1290Met) c.3866A>T (p.Lys1289Met) c.3785A>T (p.Lys1262Met) c.3716A>T (p.Lys1239Met) c.3584A>T (p.Lys1195Met) c.3452A>T (p.Lys1151Met) | |
20 | g.32436318G>A | CA510467357 | ASXL1 | c.3606G>A (p.Lys1202=) c.3423G>A (p.Lys1141=) n.5959G>A c.1869+1737G>A (n.1869+1737G>A) c.3591G>A (p.Lys1197=) c.3603G>A (p.Lys1201=) c.3576G>A (p.Lys1192=) c.3522G>A (p.Lys1174=) c.2922G>A (p.Lys974=) c.3870G>A (p.Lys1290=) c.3867G>A (p.Lys1289=) c.3786G>A (p.Lys1262=) c.3717G>A (p.Lys1239=) c.3585G>A (p.Lys1195=) c.3453G>A (p.Lys1151=) | dbSNP |
20 | g.32436318G>C | CA408563410 | ASXL1 | c.3606G>C (p.Lys1202Asn) c.3423G>C (p.Lys1141Asn) n.5959G>C c.1869+1737G>C (n.1869+1737G>C) c.3591G>C (p.Lys1197Asn) c.3603G>C (p.Lys1201Asn) c.3576G>C (p.Lys1192Asn) c.3522G>C (p.Lys1174Asn) c.2922G>C (p.Lys974Asn) c.3870G>C (p.Lys1290Asn) c.3867G>C (p.Lys1289Asn) c.3786G>C (p.Lys1262Asn) c.3717G>C (p.Lys1239Asn) c.3585G>C (p.Lys1195Asn) c.3453G>C (p.Lys1151Asn) | |
20 | g.32436318G>T | CA408563409 | ASXL1 | c.3606G>T (p.Lys1202Asn) c.3423G>T (p.Lys1141Asn) n.5959G>T c.1869+1737G>T (n.1869+1737G>T) c.3591G>T (p.Lys1197Asn) c.3603G>T (p.Lys1201Asn) c.3576G>T (p.Lys1192Asn) c.3522G>T (p.Lys1174Asn) c.2922G>T (p.Lys974Asn) c.3870G>T (p.Lys1290Asn) c.3867G>T (p.Lys1289Asn) c.3786G>T (p.Lys1262Asn) c.3717G>T (p.Lys1239Asn) c.3585G>T (p.Lys1195Asn) c.3453G>T (p.Lys1151Asn) | ClinVar gnomAD v4 |
20 | g.32436319A>C | CA408563411 | ASXL1 | c.3607A>C (p.Asn1203His) c.3424A>C (p.Asn1142His) n.5960A>C c.1869+1738A>C (n.1869+1738A>C) c.3592A>C (p.Asn1198His) c.3604A>C (p.Asn1202His) c.3577A>C (p.Asn1193His) c.3523A>C (p.Asn1175His) c.2923A>C (p.Asn975His) c.3871A>C (p.Asn1291His) c.3868A>C (p.Asn1290His) c.3787A>C (p.Asn1263His) c.3718A>C (p.Asn1240His) c.3586A>C (p.Asn1196His) c.3454A>C (p.Asn1152His) | |
20 | g.32436319A>G | CA408563412 | ASXL1 | c.3607A>G (p.Asn1203Asp) c.3424A>G (p.Asn1142Asp) n.5960A>G c.1869+1738A>G (n.1869+1738A>G) c.3592A>G (p.Asn1198Asp) c.3604A>G (p.Asn1202Asp) c.3577A>G (p.Asn1193Asp) c.3523A>G (p.Asn1175Asp) c.2923A>G (p.Asn975Asp) c.3871A>G (p.Asn1291Asp) c.3868A>G (p.Asn1290Asp) c.3787A>G (p.Asn1263Asp) c.3718A>G (p.Asn1240Asp) c.3586A>G (p.Asn1196Asp) c.3454A>G (p.Asn1152Asp) | |
20 | g.32436319A>T | CA408563413 | ASXL1 | c.3607A>T (p.Asn1203Tyr) c.3424A>T (p.Asn1142Tyr) n.5960A>T c.1869+1738A>T (n.1869+1738A>T) c.3592A>T (p.Asn1198Tyr) c.3604A>T (p.Asn1202Tyr) c.3577A>T (p.Asn1193Tyr) c.3523A>T (p.Asn1175Tyr) c.2923A>T (p.Asn975Tyr) c.3871A>T (p.Asn1291Tyr) c.3868A>T (p.Asn1290Tyr) c.3787A>T (p.Asn1263Tyr) c.3718A>T (p.Asn1240Tyr) c.3586A>T (p.Asn1196Tyr) c.3454A>T (p.Asn1152Tyr) | |
20 | g.32436320A>C | CA408563414 | ASXL1 | c.3608A>C (p.Asn1203Thr) c.3425A>C (p.Asn1142Thr) n.5961A>C c.1869+1739A>C (n.1869+1739A>C) c.3593A>C (p.Asn1198Thr) c.3605A>C (p.Asn1202Thr) c.3578A>C (p.Asn1193Thr) c.3524A>C (p.Asn1175Thr) c.2924A>C (p.Asn975Thr) c.3872A>C (p.Asn1291Thr) c.3869A>C (p.Asn1290Thr) c.3788A>C (p.Asn1263Thr) c.3719A>C (p.Asn1240Thr) c.3587A>C (p.Asn1196Thr) c.3455A>C (p.Asn1152Thr) | |
20 | g.32436320A>G | CA408563415 | ASXL1 | c.3608A>G (p.Asn1203Ser) c.3425A>G (p.Asn1142Ser) n.5961A>G c.1869+1739A>G (n.1869+1739A>G) c.3593A>G (p.Asn1198Ser) c.3605A>G (p.Asn1202Ser) c.3578A>G (p.Asn1193Ser) c.3524A>G (p.Asn1175Ser) c.2924A>G (p.Asn975Ser) c.3872A>G (p.Asn1291Ser) c.3869A>G (p.Asn1290Ser) c.3788A>G (p.Asn1263Ser) c.3719A>G (p.Asn1240Ser) c.3587A>G (p.Asn1196Ser) c.3455A>G (p.Asn1152Ser) | |
20 | g.32436320A>T | CA408563416 | ASXL1 | c.3608A>T (p.Asn1203Ile) c.3425A>T (p.Asn1142Ile) n.5961A>T c.1869+1739A>T (n.1869+1739A>T) c.3593A>T (p.Asn1198Ile) c.3605A>T (p.Asn1202Ile) c.3578A>T (p.Asn1193Ile) c.3524A>T (p.Asn1175Ile) c.2924A>T (p.Asn975Ile) c.3872A>T (p.Asn1291Ile) c.3869A>T (p.Asn1290Ile) c.3788A>T (p.Asn1263Ile) c.3719A>T (p.Asn1240Ile) c.3587A>T (p.Asn1196Ile) c.3455A>T (p.Asn1152Ile) | |
20 | g.32436321T>A | CA408563417 | ASXL1 | c.3609T>A (p.Asn1203Lys) c.3426T>A (p.Asn1142Lys) n.5962T>A c.1869+1740T>A (n.1869+1740T>A) c.3594T>A (p.Asn1198Lys) c.3606T>A (p.Asn1202Lys) c.3579T>A (p.Asn1193Lys) c.3525T>A (p.Asn1175Lys) c.2925T>A (p.Asn975Lys) c.3873T>A (p.Asn1291Lys) c.3870T>A (p.Asn1290Lys) c.3789T>A (p.Asn1263Lys) c.3720T>A (p.Asn1240Lys) c.3588T>A (p.Asn1196Lys) c.3456T>A (p.Asn1152Lys) | dbSNP |
20 | g.32436321T>C | CA510467358 | ASXL1 | c.3609T>C (p.Asn1203=) c.3426T>C (p.Asn1142=) n.5962T>C c.1869+1740T>C (n.1869+1740T>C) c.3594T>C (p.Asn1198=) c.3606T>C (p.Asn1202=) c.3579T>C (p.Asn1193=) c.3525T>C (p.Asn1175=) c.2925T>C (p.Asn975=) c.3873T>C (p.Asn1291=) c.3870T>C (p.Asn1290=) c.3789T>C (p.Asn1263=) c.3720T>C (p.Asn1240=) c.3588T>C (p.Asn1196=) c.3456T>C (p.Asn1152=) | |
20 | g.32436321T>G | CA408563418 | ASXL1 | c.3609T>G (p.Asn1203Lys) c.3426T>G (p.Asn1142Lys) n.5962T>G c.1869+1740T>G (n.1869+1740T>G) c.3594T>G (p.Asn1198Lys) c.3606T>G (p.Asn1202Lys) c.3579T>G (p.Asn1193Lys) c.3525T>G (p.Asn1175Lys) c.2925T>G (p.Asn975Lys) c.3873T>G (p.Asn1291Lys) c.3870T>G (p.Asn1290Lys) c.3789T>G (p.Asn1263Lys) c.3720T>G (p.Asn1240Lys) c.3588T>G (p.Asn1196Lys) c.3456T>G (p.Asn1152Lys) | |
20 | g.32436322T>A | CA408563419 | ASXL1 | c.3610T>A (p.Cys1204Ser) c.3427T>A (p.Cys1143Ser) n.5963T>A c.1869+1741T>A (n.1869+1741T>A) c.3595T>A (p.Cys1199Ser) c.3607T>A (p.Cys1203Ser) c.3580T>A (p.Cys1194Ser) c.3526T>A (p.Cys1176Ser) c.2926T>A (p.Cys976Ser) c.3874T>A (p.Cys1292Ser) c.3871T>A (p.Cys1291Ser) c.3790T>A (p.Cys1264Ser) c.3721T>A (p.Cys1241Ser) c.3589T>A (p.Cys1197Ser) c.3457T>A (p.Cys1153Ser) | |
20 | g.32436322T>C | CA408563420 | ASXL1 | c.3610T>C (p.Cys1204Arg) c.3427T>C (p.Cys1143Arg) n.5963T>C c.1869+1741T>C (n.1869+1741T>C) c.3595T>C (p.Cys1199Arg) c.3607T>C (p.Cys1203Arg) c.3580T>C (p.Cys1194Arg) c.3526T>C (p.Cys1176Arg) c.2926T>C (p.Cys976Arg) c.3874T>C (p.Cys1292Arg) c.3871T>C (p.Cys1291Arg) c.3790T>C (p.Cys1264Arg) c.3721T>C (p.Cys1241Arg) c.3589T>C (p.Cys1197Arg) c.3457T>C (p.Cys1153Arg) | |
20 | g.32436322T>G | CA408563421 | ASXL1 | c.3610T>G (p.Cys1204Gly) c.3427T>G (p.Cys1143Gly) n.5963T>G c.1869+1741T>G (n.1869+1741T>G) c.3595T>G (p.Cys1199Gly) c.3607T>G (p.Cys1203Gly) c.3580T>G (p.Cys1194Gly) c.3526T>G (p.Cys1176Gly) c.2926T>G (p.Cys976Gly) c.3874T>G (p.Cys1292Gly) c.3871T>G (p.Cys1291Gly) c.3790T>G (p.Cys1264Gly) c.3721T>G (p.Cys1241Gly) c.3589T>G (p.Cys1197Gly) c.3457T>G (p.Cys1153Gly) | |
20 | g.32436323G>A | CA408563422 | ASXL1 | c.3611G>A (p.Cys1204Tyr) c.3428G>A (p.Cys1143Tyr) n.5964G>A c.1869+1742G>A (n.1869+1742G>A) c.3596G>A (p.Cys1199Tyr) c.3608G>A (p.Cys1203Tyr) c.3581G>A (p.Cys1194Tyr) c.3527G>A (p.Cys1176Tyr) c.2927G>A (p.Cys976Tyr) c.3875G>A (p.Cys1292Tyr) c.3872G>A (p.Cys1291Tyr) c.3791G>A (p.Cys1264Tyr) c.3722G>A (p.Cys1241Tyr) c.3590G>A (p.Cys1197Tyr) c.3458G>A (p.Cys1153Tyr) | gnomAD v4 |
20 | g.32436323G>C | CA408563423 | ASXL1 | c.3611G>C (p.Cys1204Ser) c.3428G>C (p.Cys1143Ser) n.5964G>C c.1869+1742G>C (n.1869+1742G>C) c.3596G>C (p.Cys1199Ser) c.3608G>C (p.Cys1203Ser) c.3581G>C (p.Cys1194Ser) c.3527G>C (p.Cys1176Ser) c.2927G>C (p.Cys976Ser) c.3875G>C (p.Cys1292Ser) c.3872G>C (p.Cys1291Ser) c.3791G>C (p.Cys1264Ser) c.3722G>C (p.Cys1241Ser) c.3590G>C (p.Cys1197Ser) c.3458G>C (p.Cys1153Ser) | dbSNP |
20 | g.32436323G= | CA2360293644 | ASXL1 | c.3611G= (p.Cys1204=) c.3428G= (p.Cys1143=) n.5964G= c.1869+1742G= (n.1869+1742G=) c.3596G= (p.Cys1199=) c.3608G= (p.Cys1203=) c.3581G= (p.Cys1194=) c.3527G= (p.Cys1176=) c.2927G= (p.Cys976=) c.3875G= (p.Cys1292=) c.3872G= (p.Cys1291=) c.3791G= (p.Cys1264=) c.3722G= (p.Cys1241=) c.3590G= (p.Cys1197=) c.3458G= (p.Cys1153=) | |
20 | g.32436323G>T | CA408563424 | ASXL1 | c.3611G>T (p.Cys1204Phe) c.3428G>T (p.Cys1143Phe) n.5964G>T c.1869+1742G>T (n.1869+1742G>T) c.3596G>T (p.Cys1199Phe) c.3608G>T (p.Cys1203Phe) c.3581G>T (p.Cys1194Phe) c.3527G>T (p.Cys1176Phe) c.2927G>T (p.Cys976Phe) c.3875G>T (p.Cys1292Phe) c.3872G>T (p.Cys1291Phe) c.3791G>T (p.Cys1264Phe) c.3722G>T (p.Cys1241Phe) c.3590G>T (p.Cys1197Phe) c.3458G>T (p.Cys1153Phe) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436324C>A | CA408563425 | ASXL1 | c.3612C>A (p.Cys1204Ter) c.3429C>A (p.Cys1143Ter) n.5965C>A c.1869+1743C>A (n.1869+1743C>A) c.3597C>A (p.Cys1199Ter) c.3609C>A (p.Cys1203Ter) c.3582C>A (p.Cys1194Ter) c.3528C>A (p.Cys1176Ter) c.2928C>A (p.Cys976Ter) c.3876C>A (p.Cys1292Ter) c.3873C>A (p.Cys1291Ter) c.3792C>A (p.Cys1264Ter) c.3723C>A (p.Cys1241Ter) c.3591C>A (p.Cys1197Ter) c.3459C>A (p.Cys1153Ter) | |
20 | g.32436324C= | CA2360293645 | ASXL1 | c.3612C= (p.Cys1204=) c.3429C= (p.Cys1143=) n.5965C= c.1869+1743C= (n.1869+1743C=) c.3597C= (p.Cys1199=) c.3609C= (p.Cys1203=) c.3582C= (p.Cys1194=) c.3528C= (p.Cys1176=) c.2928C= (p.Cys976=) c.3876C= (p.Cys1292=) c.3873C= (p.Cys1291=) c.3792C= (p.Cys1264=) c.3723C= (p.Cys1241=) c.3591C= (p.Cys1197=) c.3459C= (p.Cys1153=) | |
20 | g.32436324C>G | CA9808862 | ASXL1 | c.3612C>G (p.Cys1204Trp) c.3429C>G (p.Cys1143Trp) n.5965C>G c.1869+1743C>G (n.1869+1743C>G) c.3597C>G (p.Cys1199Trp) c.3609C>G (p.Cys1203Trp) c.3582C>G (p.Cys1194Trp) c.3528C>G (p.Cys1176Trp) c.2928C>G (p.Cys976Trp) c.3876C>G (p.Cys1292Trp) c.3873C>G (p.Cys1291Trp) c.3792C>G (p.Cys1264Trp) c.3723C>G (p.Cys1241Trp) c.3591C>G (p.Cys1197Trp) c.3459C>G (p.Cys1153Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436324C>T | CA510467359 | ASXL1 | c.3612C>T (p.Cys1204=) c.3429C>T (p.Cys1143=) n.5965C>T c.1869+1743C>T (n.1869+1743C>T) c.3597C>T (p.Cys1199=) c.3609C>T (p.Cys1203=) c.3582C>T (p.Cys1194=) c.3528C>T (p.Cys1176=) c.2928C>T (p.Cys976=) c.3876C>T (p.Cys1292=) c.3873C>T (p.Cys1291=) c.3792C>T (p.Cys1264=) c.3723C>T (p.Cys1241=) c.3591C>T (p.Cys1197=) c.3459C>T (p.Cys1153=) | dbSNP |
20 | g.32436325A>C | CA408563426 | ASXL1 | c.3613A>C (p.Lys1205Gln) c.3430A>C (p.Lys1144Gln) n.5966A>C c.1869+1744A>C (n.1869+1744A>C) c.3598A>C (p.Lys1200Gln) c.3610A>C (p.Lys1204Gln) c.3583A>C (p.Lys1195Gln) c.3529A>C (p.Lys1177Gln) c.2929A>C (p.Lys977Gln) c.3877A>C (p.Lys1293Gln) c.3874A>C (p.Lys1292Gln) c.3793A>C (p.Lys1265Gln) c.3724A>C (p.Lys1242Gln) c.3592A>C (p.Lys1198Gln) c.3460A>C (p.Lys1154Gln) | |
20 | g.32436325A>G | CA408563427 | ASXL1 | c.3613A>G (p.Lys1205Glu) c.3430A>G (p.Lys1144Glu) n.5966A>G c.1869+1744A>G (n.1869+1744A>G) c.3598A>G (p.Lys1200Glu) c.3610A>G (p.Lys1204Glu) c.3583A>G (p.Lys1195Glu) c.3529A>G (p.Lys1177Glu) c.2929A>G (p.Lys977Glu) c.3877A>G (p.Lys1293Glu) c.3874A>G (p.Lys1292Glu) c.3793A>G (p.Lys1265Glu) c.3724A>G (p.Lys1242Glu) c.3592A>G (p.Lys1198Glu) c.3460A>G (p.Lys1154Glu) | |
20 | g.32436325A>T | CA408563428 | ASXL1 | c.3613A>T (p.Lys1205Ter) c.3430A>T (p.Lys1144Ter) n.5966A>T c.1869+1744A>T (n.1869+1744A>T) c.3598A>T (p.Lys1200Ter) c.3610A>T (p.Lys1204Ter) c.3583A>T (p.Lys1195Ter) c.3529A>T (p.Lys1177Ter) c.2929A>T (p.Lys977Ter) c.3877A>T (p.Lys1293Ter) c.3874A>T (p.Lys1292Ter) c.3793A>T (p.Lys1265Ter) c.3724A>T (p.Lys1242Ter) c.3592A>T (p.Lys1198Ter) c.3460A>T (p.Lys1154Ter) | |
20 | g.32436326A= | CA2360293646 | ASXL1 | c.3614A= (p.Lys1205=) c.3431A= (p.Lys1144=) n.5967A= c.1869+1745A= (n.1869+1745A=) c.3599A= (p.Lys1200=) c.3611A= (p.Lys1204=) c.3584A= (p.Lys1195=) c.3530A= (p.Lys1177=) c.2930A= (p.Lys977=) c.3878A= (p.Lys1293=) c.3875A= (p.Lys1292=) c.3794A= (p.Lys1265=) c.3725A= (p.Lys1242=) c.3593A= (p.Lys1198=) c.3461A= (p.Lys1154=) | |
20 | g.32436326A>C | CA408563429 | ASXL1 | c.3614A>C (p.Lys1205Thr) c.3431A>C (p.Lys1144Thr) n.5967A>C c.1869+1745A>C (n.1869+1745A>C) c.3599A>C (p.Lys1200Thr) c.3611A>C (p.Lys1204Thr) c.3584A>C (p.Lys1195Thr) c.3530A>C (p.Lys1177Thr) c.2930A>C (p.Lys977Thr) c.3878A>C (p.Lys1293Thr) c.3875A>C (p.Lys1292Thr) c.3794A>C (p.Lys1265Thr) c.3725A>C (p.Lys1242Thr) c.3593A>C (p.Lys1198Thr) c.3461A>C (p.Lys1154Thr) | |
20 | g.32436326A>G | CA408563430 | ASXL1 | c.3614A>G (p.Lys1205Arg) c.3431A>G (p.Lys1144Arg) n.5967A>G c.1869+1745A>G (n.1869+1745A>G) c.3599A>G (p.Lys1200Arg) c.3611A>G (p.Lys1204Arg) c.3584A>G (p.Lys1195Arg) c.3530A>G (p.Lys1177Arg) c.2930A>G (p.Lys977Arg) c.3878A>G (p.Lys1293Arg) c.3875A>G (p.Lys1292Arg) c.3794A>G (p.Lys1265Arg) c.3725A>G (p.Lys1242Arg) c.3593A>G (p.Lys1198Arg) c.3461A>G (p.Lys1154Arg) | dbSNP |
20 | g.32436326A>T | CA408563431 | ASXL1 | c.3614A>T (p.Lys1205Met) c.3431A>T (p.Lys1144Met) n.5967A>T c.1869+1745A>T (n.1869+1745A>T) c.3599A>T (p.Lys1200Met) c.3611A>T (p.Lys1204Met) c.3584A>T (p.Lys1195Met) c.3530A>T (p.Lys1177Met) c.2930A>T (p.Lys977Met) c.3878A>T (p.Lys1293Met) c.3875A>T (p.Lys1292Met) c.3794A>T (p.Lys1265Met) c.3725A>T (p.Lys1242Met) c.3593A>T (p.Lys1198Met) c.3461A>T (p.Lys1154Met) | |
20 | g.32436327G>A | CA510467360 | ASXL1 | c.3615G>A (p.Lys1205=) c.3432G>A (p.Lys1144=) n.5968G>A c.1869+1746G>A (n.1869+1746G>A) c.3600G>A (p.Lys1200=) c.3612G>A (p.Lys1204=) c.3585G>A (p.Lys1195=) c.3531G>A (p.Lys1177=) c.2931G>A (p.Lys977=) c.3879G>A (p.Lys1293=) c.3876G>A (p.Lys1292=) c.3795G>A (p.Lys1265=) c.3726G>A (p.Lys1242=) c.3594G>A (p.Lys1198=) c.3462G>A (p.Lys1154=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436327G>C | CA408563433 | ASXL1 | c.3615G>C (p.Lys1205Asn) c.3432G>C (p.Lys1144Asn) n.5968G>C c.1869+1746G>C (n.1869+1746G>C) c.3600G>C (p.Lys1200Asn) c.3612G>C (p.Lys1204Asn) c.3585G>C (p.Lys1195Asn) c.3531G>C (p.Lys1177Asn) c.2931G>C (p.Lys977Asn) c.3879G>C (p.Lys1293Asn) c.3876G>C (p.Lys1292Asn) c.3795G>C (p.Lys1265Asn) c.3726G>C (p.Lys1242Asn) c.3594G>C (p.Lys1198Asn) c.3462G>C (p.Lys1154Asn) | |
20 | g.32436327G= | CA2360293647 | ASXL1 | c.3615G= (p.Lys1205=) c.3432G= (p.Lys1144=) n.5968G= c.1869+1746G= (n.1869+1746G=) c.3600G= (p.Lys1200=) c.3612G= (p.Lys1204=) c.3585G= (p.Lys1195=) c.3531G= (p.Lys1177=) c.2931G= (p.Lys977=) c.3879G= (p.Lys1293=) c.3876G= (p.Lys1292=) c.3795G= (p.Lys1265=) c.3726G= (p.Lys1242=) c.3594G= (p.Lys1198=) c.3462G= (p.Lys1154=) | |
20 | g.32436327G>T | CA408563432 | ASXL1 | c.3615G>T (p.Lys1205Asn) c.3432G>T (p.Lys1144Asn) n.5968G>T c.1869+1746G>T (n.1869+1746G>T) c.3600G>T (p.Lys1200Asn) c.3612G>T (p.Lys1204Asn) c.3585G>T (p.Lys1195Asn) c.3531G>T (p.Lys1177Asn) c.2931G>T (p.Lys977Asn) c.3879G>T (p.Lys1293Asn) c.3876G>T (p.Lys1292Asn) c.3795G>T (p.Lys1265Asn) c.3726G>T (p.Lys1242Asn) c.3594G>T (p.Lys1198Asn) c.3462G>T (p.Lys1154Asn) | |
20 | g.32436328G>A | CA9808863 | ASXL1 | c.3616G>A (p.Ala1206Thr) c.3433G>A (p.Ala1145Thr) n.5969G>A c.1869+1747G>A (n.1869+1747G>A) c.3601G>A (p.Ala1201Thr) c.3613G>A (p.Ala1205Thr) c.3586G>A (p.Ala1196Thr) c.3532G>A (p.Ala1178Thr) c.2932G>A (p.Ala978Thr) c.3880G>A (p.Ala1294Thr) c.3877G>A (p.Ala1293Thr) c.3796G>A (p.Ala1266Thr) c.3727G>A (p.Ala1243Thr) c.3595G>A (p.Ala1199Thr) c.3463G>A (p.Ala1155Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436328G>C | CA408563434 | ASXL1 | c.3616G>C (p.Ala1206Pro) c.3433G>C (p.Ala1145Pro) n.5969G>C c.1869+1747G>C (n.1869+1747G>C) c.3601G>C (p.Ala1201Pro) c.3613G>C (p.Ala1205Pro) c.3586G>C (p.Ala1196Pro) c.3532G>C (p.Ala1178Pro) c.2932G>C (p.Ala978Pro) c.3880G>C (p.Ala1294Pro) c.3877G>C (p.Ala1293Pro) c.3796G>C (p.Ala1266Pro) c.3727G>C (p.Ala1243Pro) c.3595G>C (p.Ala1199Pro) c.3463G>C (p.Ala1155Pro) | |
20 | g.32436328G= | CA2360293648 | ASXL1 | c.3616G= (p.Ala1206=) c.3433G= (p.Ala1145=) n.5969G= c.1869+1747G= (n.1869+1747G=) c.3601G= (p.Ala1201=) c.3613G= (p.Ala1205=) c.3586G= (p.Ala1196=) c.3532G= (p.Ala1178=) c.2932G= (p.Ala978=) c.3880G= (p.Ala1294=) c.3877G= (p.Ala1293=) c.3796G= (p.Ala1266=) c.3727G= (p.Ala1243=) c.3595G= (p.Ala1199=) c.3463G= (p.Ala1155=) | |
20 | g.32436328G>T | CA408563435 | ASXL1 | c.3616G>T (p.Ala1206Ser) c.3433G>T (p.Ala1145Ser) n.5969G>T c.1869+1747G>T (n.1869+1747G>T) c.3601G>T (p.Ala1201Ser) c.3613G>T (p.Ala1205Ser) c.3586G>T (p.Ala1196Ser) c.3532G>T (p.Ala1178Ser) c.2932G>T (p.Ala978Ser) c.3880G>T (p.Ala1294Ser) c.3877G>T (p.Ala1293Ser) c.3796G>T (p.Ala1266Ser) c.3727G>T (p.Ala1243Ser) c.3595G>T (p.Ala1199Ser) c.3463G>T (p.Ala1155Ser) | |
20 | g.32436329_32436338del | CA645612967 | ASXL1 | c.3617_3626del (p.Ala1206ValfsTer8) c.3434_3443del (p.Ala1145ValfsTer8) n.5970_5979del c.1869+1748_1869+1757del (n.1869+1748_1869+1757del) c.3602_3611del (p.Ala1201ValfsTer8) c.3614_3623del (p.Ala1205ValfsTer8) c.3587_3596del (p.Ala1196ValfsTer8) c.3533_3542del (p.Ala1178ValfsTer8) c.2933_2942del (p.Ala978ValfsTer8) c.3881_3890del (p.Ala1294ValfsTer8) c.3878_3887del (p.Ala1293ValfsTer8) c.3797_3806del (p.Ala1266ValfsTer8) c.3728_3737del (p.Ala1243ValfsTer8) c.3596_3605del (p.Ala1199ValfsTer8) c.3464_3473del (p.Ala1155ValfsTer8) | COSMIC COSMIC |
20 | g.32436329C>A | CA408563436 | ASXL1 | c.3617C>A (p.Ala1206Glu) c.3434C>A (p.Ala1145Glu) n.5970C>A c.1869+1748C>A (n.1869+1748C>A) c.3602C>A (p.Ala1201Glu) c.3614C>A (p.Ala1205Glu) c.3587C>A (p.Ala1196Glu) c.3533C>A (p.Ala1178Glu) c.2933C>A (p.Ala978Glu) c.3881C>A (p.Ala1294Glu) c.3878C>A (p.Ala1293Glu) c.3797C>A (p.Ala1266Glu) c.3728C>A (p.Ala1243Glu) c.3596C>A (p.Ala1199Glu) c.3464C>A (p.Ala1155Glu) | |
20 | g.32436329C= | CA2360293649 | ASXL1 | c.3617C= (p.Ala1206=) c.3434C= (p.Ala1145=) n.5970C= c.1869+1748C= (n.1869+1748C=) c.3602C= (p.Ala1201=) c.3614C= (p.Ala1205=) c.3587C= (p.Ala1196=) c.3533C= (p.Ala1178=) c.2933C= (p.Ala978=) c.3881C= (p.Ala1294=) c.3878C= (p.Ala1293=) c.3797C= (p.Ala1266=) c.3728C= (p.Ala1243=) c.3596C= (p.Ala1199=) c.3464C= (p.Ala1155=) | |
20 | g.32436329C>G | CA408563437 | ASXL1 | c.3617C>G (p.Ala1206Gly) c.3434C>G (p.Ala1145Gly) n.5970C>G c.1869+1748C>G (n.1869+1748C>G) c.3602C>G (p.Ala1201Gly) c.3614C>G (p.Ala1205Gly) c.3587C>G (p.Ala1196Gly) c.3533C>G (p.Ala1178Gly) c.2933C>G (p.Ala978Gly) c.3881C>G (p.Ala1294Gly) c.3878C>G (p.Ala1293Gly) c.3797C>G (p.Ala1266Gly) c.3728C>G (p.Ala1243Gly) c.3596C>G (p.Ala1199Gly) c.3464C>G (p.Ala1155Gly) | |
20 | g.32436329C>T | CA408563438 | ASXL1 | c.3617C>T (p.Ala1206Val) c.3434C>T (p.Ala1145Val) n.5970C>T c.1869+1748C>T (n.1869+1748C>T) c.3602C>T (p.Ala1201Val) c.3614C>T (p.Ala1205Val) c.3587C>T (p.Ala1196Val) c.3533C>T (p.Ala1178Val) c.2933C>T (p.Ala978Val) c.3881C>T (p.Ala1294Val) c.3878C>T (p.Ala1293Val) c.3797C>T (p.Ala1266Val) c.3728C>T (p.Ala1243Val) c.3596C>T (p.Ala1199Val) c.3464C>T (p.Ala1155Val) | dbSNP gnomAD v4 |
20 | g.32436330A>C | CA510467361 | ASXL1 | c.3618A>C (p.Ala1206=) c.3435A>C (p.Ala1145=) n.5971A>C c.1869+1749A>C (n.1869+1749A>C) c.3603A>C (p.Ala1201=) c.3615A>C (p.Ala1205=) c.3588A>C (p.Ala1196=) c.3534A>C (p.Ala1178=) c.2934A>C (p.Ala978=) c.3882A>C (p.Ala1294=) c.3879A>C (p.Ala1293=) c.3798A>C (p.Ala1266=) c.3729A>C (p.Ala1243=) c.3597A>C (p.Ala1199=) c.3465A>C (p.Ala1155=) | |
20 | g.32436330A>G | CA510467362 | ASXL1 | c.3618A>G (p.Ala1206=) c.3435A>G (p.Ala1145=) n.5971A>G c.1869+1749A>G (n.1869+1749A>G) c.3603A>G (p.Ala1201=) c.3615A>G (p.Ala1205=) c.3588A>G (p.Ala1196=) c.3534A>G (p.Ala1178=) c.2934A>G (p.Ala978=) c.3882A>G (p.Ala1294=) c.3879A>G (p.Ala1293=) c.3798A>G (p.Ala1266=) c.3729A>G (p.Ala1243=) c.3597A>G (p.Ala1199=) c.3465A>G (p.Ala1155=) | |
20 | g.32436330A>T | CA510467363 | ASXL1 | c.3618A>T (p.Ala1206=) c.3435A>T (p.Ala1145=) n.5971A>T c.1869+1749A>T (n.1869+1749A>T) c.3603A>T (p.Ala1201=) c.3615A>T (p.Ala1205=) c.3588A>T (p.Ala1196=) c.3534A>T (p.Ala1178=) c.2934A>T (p.Ala978=) c.3882A>T (p.Ala1294=) c.3879A>T (p.Ala1293=) c.3798A>T (p.Ala1266=) c.3729A>T (p.Ala1243=) c.3597A>T (p.Ala1199=) c.3465A>T (p.Ala1155=) | |
20 | g.32436331G>A | CA408563441 | ASXL1 | c.3619G>A (p.Val1207Ile) c.3436G>A (p.Val1146Ile) n.5972G>A c.1869+1750G>A (n.1869+1750G>A) c.3604G>A (p.Val1202Ile) c.3616G>A (p.Val1206Ile) c.3589G>A (p.Val1197Ile) c.3535G>A (p.Val1179Ile) c.2935G>A (p.Val979Ile) c.3883G>A (p.Val1295Ile) c.3880G>A (p.Val1294Ile) c.3799G>A (p.Val1267Ile) c.3730G>A (p.Val1244Ile) c.3598G>A (p.Val1200Ile) c.3466G>A (p.Val1156Ile) | |
20 | g.32436331G>C | CA408563439 | ASXL1 | c.3619G>C (p.Val1207Leu) c.3436G>C (p.Val1146Leu) n.5972G>C c.1869+1750G>C (n.1869+1750G>C) c.3604G>C (p.Val1202Leu) c.3616G>C (p.Val1206Leu) c.3589G>C (p.Val1197Leu) c.3535G>C (p.Val1179Leu) c.2935G>C (p.Val979Leu) c.3883G>C (p.Val1295Leu) c.3880G>C (p.Val1294Leu) c.3799G>C (p.Val1267Leu) c.3730G>C (p.Val1244Leu) c.3598G>C (p.Val1200Leu) c.3466G>C (p.Val1156Leu) | gnomAD v4 |
20 | g.32436331G>T | CA408563440 | ASXL1 | c.3619G>T (p.Val1207Phe) c.3436G>T (p.Val1146Phe) n.5972G>T c.1869+1750G>T (n.1869+1750G>T) c.3604G>T (p.Val1202Phe) c.3616G>T (p.Val1206Phe) c.3589G>T (p.Val1197Phe) c.3535G>T (p.Val1179Phe) c.2935G>T (p.Val979Phe) c.3883G>T (p.Val1295Phe) c.3880G>T (p.Val1294Phe) c.3799G>T (p.Val1267Phe) c.3730G>T (p.Val1244Phe) c.3598G>T (p.Val1200Phe) c.3466G>T (p.Val1156Phe) | gnomAD v4 |
20 | g.32436332T>A | CA408563442 | ASXL1 | c.3620T>A (p.Val1207Asp) c.3437T>A (p.Val1146Asp) n.5973T>A c.1869+1751T>A (n.1869+1751T>A) c.3605T>A (p.Val1202Asp) c.3617T>A (p.Val1206Asp) c.3590T>A (p.Val1197Asp) c.3536T>A (p.Val1179Asp) c.2936T>A (p.Val979Asp) c.3884T>A (p.Val1295Asp) c.3881T>A (p.Val1294Asp) c.3800T>A (p.Val1267Asp) c.3731T>A (p.Val1244Asp) c.3599T>A (p.Val1200Asp) c.3467T>A (p.Val1156Asp) | dbSNP |
20 | g.32436332T>C | CA408563443 | ASXL1 | c.3620T>C (p.Val1207Ala) c.3437T>C (p.Val1146Ala) n.5973T>C c.1869+1751T>C (n.1869+1751T>C) c.3605T>C (p.Val1202Ala) c.3617T>C (p.Val1206Ala) c.3590T>C (p.Val1197Ala) c.3536T>C (p.Val1179Ala) c.2936T>C (p.Val979Ala) c.3884T>C (p.Val1295Ala) c.3881T>C (p.Val1294Ala) c.3800T>C (p.Val1267Ala) c.3731T>C (p.Val1244Ala) c.3599T>C (p.Val1200Ala) c.3467T>C (p.Val1156Ala) | |
20 | g.32436332T>G | CA408563444 | ASXL1 | c.3620T>G (p.Val1207Gly) c.3437T>G (p.Val1146Gly) n.5973T>G c.1869+1751T>G (n.1869+1751T>G) c.3605T>G (p.Val1202Gly) c.3617T>G (p.Val1206Gly) c.3590T>G (p.Val1197Gly) c.3536T>G (p.Val1179Gly) c.2936T>G (p.Val979Gly) c.3884T>G (p.Val1295Gly) c.3881T>G (p.Val1294Gly) c.3800T>G (p.Val1267Gly) c.3731T>G (p.Val1244Gly) c.3599T>G (p.Val1200Gly) c.3467T>G (p.Val1156Gly) | |
20 | g.32436333C>A | CA510467364 | ASXL1 | c.3621C>A (p.Val1207=) c.3438C>A (p.Val1146=) n.5974C>A c.1869+1752C>A (n.1869+1752C>A) c.3606C>A (p.Val1202=) c.3618C>A (p.Val1206=) c.3591C>A (p.Val1197=) c.3537C>A (p.Val1179=) c.2937C>A (p.Val979=) c.3885C>A (p.Val1295=) c.3882C>A (p.Val1294=) c.3801C>A (p.Val1267=) c.3732C>A (p.Val1244=) c.3600C>A (p.Val1200=) c.3468C>A (p.Val1156=) | |
20 | g.32436333C= | CA2360293650 | ASXL1 | c.3621C= (p.Val1207=) c.3438C= (p.Val1146=) n.5974C= c.1869+1752C= (n.1869+1752C=) c.3606C= (p.Val1202=) c.3618C= (p.Val1206=) c.3591C= (p.Val1197=) c.3537C= (p.Val1179=) c.2937C= (p.Val979=) c.3885C= (p.Val1295=) c.3882C= (p.Val1294=) c.3801C= (p.Val1267=) c.3732C= (p.Val1244=) c.3600C= (p.Val1200=) c.3468C= (p.Val1156=) | |
20 | g.32436333C>G | CA9808864 | ASXL1 | c.3621C>G (p.Val1207=) c.3438C>G (p.Val1146=) n.5974C>G c.1869+1752C>G (n.1869+1752C>G) c.3606C>G (p.Val1202=) c.3618C>G (p.Val1206=) c.3591C>G (p.Val1197=) c.3537C>G (p.Val1179=) c.2937C>G (p.Val979=) c.3885C>G (p.Val1295=) c.3882C>G (p.Val1294=) c.3801C>G (p.Val1267=) c.3732C>G (p.Val1244=) c.3600C>G (p.Val1200=) c.3468C>G (p.Val1156=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436333C>T | CA510467365 | ASXL1 | c.3621C>T (p.Val1207=) c.3438C>T (p.Val1146=) n.5974C>T c.1869+1752C>T (n.1869+1752C>T) c.3606C>T (p.Val1202=) c.3618C>T (p.Val1206=) c.3591C>T (p.Val1197=) c.3537C>T (p.Val1179=) c.2937C>T (p.Val979=) c.3885C>T (p.Val1295=) c.3882C>T (p.Val1294=) c.3801C>T (p.Val1267=) c.3732C>T (p.Val1244=) c.3600C>T (p.Val1200=) c.3468C>T (p.Val1156=) | |
20 | g.32436334C>A | CA408563445 | ASXL1 | c.3622C>A (p.Pro1208Thr) c.3439C>A (p.Pro1147Thr) n.5975C>A c.1869+1753C>A (n.1869+1753C>A) c.3607C>A (p.Pro1203Thr) c.3619C>A (p.Pro1207Thr) c.3592C>A (p.Pro1198Thr) c.3538C>A (p.Pro1180Thr) c.2938C>A (p.Pro980Thr) c.3886C>A (p.Pro1296Thr) c.3883C>A (p.Pro1295Thr) c.3802C>A (p.Pro1268Thr) c.3733C>A (p.Pro1245Thr) c.3601C>A (p.Pro1201Thr) c.3469C>A (p.Pro1157Thr) | |
20 | g.32436334C>G | CA408563446 | ASXL1 | c.3622C>G (p.Pro1208Ala) c.3439C>G (p.Pro1147Ala) n.5975C>G c.1869+1753C>G (n.1869+1753C>G) c.3607C>G (p.Pro1203Ala) c.3619C>G (p.Pro1207Ala) c.3592C>G (p.Pro1198Ala) c.3538C>G (p.Pro1180Ala) c.2938C>G (p.Pro980Ala) c.3886C>G (p.Pro1296Ala) c.3883C>G (p.Pro1295Ala) c.3802C>G (p.Pro1268Ala) c.3733C>G (p.Pro1245Ala) c.3601C>G (p.Pro1201Ala) c.3469C>G (p.Pro1157Ala) | |
20 | g.32436334C>T | CA408563447 | ASXL1 | c.3622C>T (p.Pro1208Ser) c.3439C>T (p.Pro1147Ser) n.5975C>T c.1869+1753C>T (n.1869+1753C>T) c.3607C>T (p.Pro1203Ser) c.3619C>T (p.Pro1207Ser) c.3592C>T (p.Pro1198Ser) c.3538C>T (p.Pro1180Ser) c.2938C>T (p.Pro980Ser) c.3886C>T (p.Pro1296Ser) c.3883C>T (p.Pro1295Ser) c.3802C>T (p.Pro1268Ser) c.3733C>T (p.Pro1245Ser) c.3601C>T (p.Pro1201Ser) c.3469C>T (p.Pro1157Ser) | dbSNP |
20 | g.32436335C>A | CA408563448 | ASXL1 | c.3623C>A (p.Pro1208Gln) c.3440C>A (p.Pro1147Gln) n.5976C>A c.1869+1754C>A (n.1869+1754C>A) c.3608C>A (p.Pro1203Gln) c.3620C>A (p.Pro1207Gln) c.3593C>A (p.Pro1198Gln) c.3539C>A (p.Pro1180Gln) c.2939C>A (p.Pro980Gln) c.3887C>A (p.Pro1296Gln) c.3884C>A (p.Pro1295Gln) c.3803C>A (p.Pro1268Gln) c.3734C>A (p.Pro1245Gln) c.3602C>A (p.Pro1201Gln) c.3470C>A (p.Pro1157Gln) | |
20 | g.32436335C= | CA2360293651 | ASXL1 | c.3623C= (p.Pro1208=) c.3440C= (p.Pro1147=) n.5976C= c.1869+1754C= (n.1869+1754C=) c.3608C= (p.Pro1203=) c.3620C= (p.Pro1207=) c.3593C= (p.Pro1198=) c.3539C= (p.Pro1180=) c.2939C= (p.Pro980=) c.3887C= (p.Pro1296=) c.3884C= (p.Pro1295=) c.3803C= (p.Pro1268=) c.3734C= (p.Pro1245=) c.3602C= (p.Pro1201=) c.3470C= (p.Pro1157=) | |
20 | g.32436335C>G | CA408563449 | ASXL1 | c.3623C>G (p.Pro1208Arg) c.3440C>G (p.Pro1147Arg) n.5976C>G c.1869+1754C>G (n.1869+1754C>G) c.3608C>G (p.Pro1203Arg) c.3620C>G (p.Pro1207Arg) c.3593C>G (p.Pro1198Arg) c.3539C>G (p.Pro1180Arg) c.2939C>G (p.Pro980Arg) c.3887C>G (p.Pro1296Arg) c.3884C>G (p.Pro1295Arg) c.3803C>G (p.Pro1268Arg) c.3734C>G (p.Pro1245Arg) c.3602C>G (p.Pro1201Arg) c.3470C>G (p.Pro1157Arg) | |
20 | g.32436335C>T | CA9808865 | ASXL1 | c.3623C>T (p.Pro1208Leu) c.3440C>T (p.Pro1147Leu) n.5976C>T c.1869+1754C>T (n.1869+1754C>T) c.3608C>T (p.Pro1203Leu) c.3620C>T (p.Pro1207Leu) c.3593C>T (p.Pro1198Leu) c.3539C>T (p.Pro1180Leu) c.2939C>T (p.Pro980Leu) c.3887C>T (p.Pro1296Leu) c.3884C>T (p.Pro1295Leu) c.3803C>T (p.Pro1268Leu) c.3734C>T (p.Pro1245Leu) c.3602C>T (p.Pro1201Leu) c.3470C>T (p.Pro1157Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436336A= | CA2360293652 | ASXL1 | c.3624A= (p.Pro1208=) c.3441A= (p.Pro1147=) n.5977A= c.1869+1755A= (n.1869+1755A=) c.3609A= (p.Pro1203=) c.3621A= (p.Pro1207=) c.3594A= (p.Pro1198=) c.3540A= (p.Pro1180=) c.2940A= (p.Pro980=) c.3888A= (p.Pro1296=) c.3885A= (p.Pro1295=) c.3804A= (p.Pro1268=) c.3735A= (p.Pro1245=) c.3603A= (p.Pro1201=) c.3471A= (p.Pro1157=) | |
20 | g.32436336A>C | CA510467367 | ASXL1 | c.3624A>C (p.Pro1208=) c.3441A>C (p.Pro1147=) n.5977A>C c.1869+1755A>C (n.1869+1755A>C) c.3609A>C (p.Pro1203=) c.3621A>C (p.Pro1207=) c.3594A>C (p.Pro1198=) c.3540A>C (p.Pro1180=) c.2940A>C (p.Pro980=) c.3888A>C (p.Pro1296=) c.3885A>C (p.Pro1295=) c.3804A>C (p.Pro1268=) c.3735A>C (p.Pro1245=) c.3603A>C (p.Pro1201=) c.3471A>C (p.Pro1157=) | |
20 | g.32436336A>G | CA510467368 | ASXL1 | c.3624A>G (p.Pro1208=) c.3441A>G (p.Pro1147=) n.5977A>G c.1869+1755A>G (n.1869+1755A>G) c.3609A>G (p.Pro1203=) c.3621A>G (p.Pro1207=) c.3594A>G (p.Pro1198=) c.3540A>G (p.Pro1180=) c.2940A>G (p.Pro980=) c.3888A>G (p.Pro1296=) c.3885A>G (p.Pro1295=) c.3804A>G (p.Pro1268=) c.3735A>G (p.Pro1245=) c.3603A>G (p.Pro1201=) c.3471A>G (p.Pro1157=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436336A>T | CA510467366 | ASXL1 | c.3624A>T (p.Pro1208=) c.3441A>T (p.Pro1147=) n.5977A>T c.1869+1755A>T (n.1869+1755A>T) c.3609A>T (p.Pro1203=) c.3621A>T (p.Pro1207=) c.3594A>T (p.Pro1198=) c.3540A>T (p.Pro1180=) c.2940A>T (p.Pro980=) c.3888A>T (p.Pro1296=) c.3885A>T (p.Pro1295=) c.3804A>T (p.Pro1268=) c.3735A>T (p.Pro1245=) c.3603A>T (p.Pro1201=) c.3471A>T (p.Pro1157=) | |
20 | g.32436337A>C | CA408563450 | ASXL1 | c.3625A>C (p.Ser1209Arg) c.3442A>C (p.Ser1148Arg) n.5978A>C c.1869+1756A>C (n.1869+1756A>C) c.3610A>C (p.Ser1204Arg) c.3622A>C (p.Ser1208Arg) c.3595A>C (p.Ser1199Arg) c.3541A>C (p.Ser1181Arg) c.2941A>C (p.Ser981Arg) c.3889A>C (p.Ser1297Arg) c.3886A>C (p.Ser1296Arg) c.3805A>C (p.Ser1269Arg) c.3736A>C (p.Ser1246Arg) c.3604A>C (p.Ser1202Arg) c.3472A>C (p.Ser1158Arg) | |
20 | g.32436337A>G | CA408563451 | ASXL1 | c.3625A>G (p.Ser1209Gly) c.3442A>G (p.Ser1148Gly) n.5978A>G c.1869+1756A>G (n.1869+1756A>G) c.3610A>G (p.Ser1204Gly) c.3622A>G (p.Ser1208Gly) c.3595A>G (p.Ser1199Gly) c.3541A>G (p.Ser1181Gly) c.2941A>G (p.Ser981Gly) c.3889A>G (p.Ser1297Gly) c.3886A>G (p.Ser1296Gly) c.3805A>G (p.Ser1269Gly) c.3736A>G (p.Ser1246Gly) c.3604A>G (p.Ser1202Gly) c.3472A>G (p.Ser1158Gly) | |
20 | g.32436337A>T | CA408563452 | ASXL1 | c.3625A>T (p.Ser1209Cys) c.3442A>T (p.Ser1148Cys) n.5978A>T c.1869+1756A>T (n.1869+1756A>T) c.3610A>T (p.Ser1204Cys) c.3622A>T (p.Ser1208Cys) c.3595A>T (p.Ser1199Cys) c.3541A>T (p.Ser1181Cys) c.2941A>T (p.Ser981Cys) c.3889A>T (p.Ser1297Cys) c.3886A>T (p.Ser1296Cys) c.3805A>T (p.Ser1269Cys) c.3736A>T (p.Ser1246Cys) c.3604A>T (p.Ser1202Cys) c.3472A>T (p.Ser1158Cys) | |
20 | g.32436338G>A | CA408563453 | ASXL1 | c.3626G>A (p.Ser1209Asn) c.3443G>A (p.Ser1148Asn) n.5979G>A c.1869+1757G>A (n.1869+1757G>A) c.3611G>A (p.Ser1204Asn) c.3623G>A (p.Ser1208Asn) c.3596G>A (p.Ser1199Asn) c.3542G>A (p.Ser1181Asn) c.2942G>A (p.Ser981Asn) c.3890G>A (p.Ser1297Asn) c.3887G>A (p.Ser1296Asn) c.3806G>A (p.Ser1269Asn) c.3737G>A (p.Ser1246Asn) c.3605G>A (p.Ser1202Asn) c.3473G>A (p.Ser1158Asn) | ClinVar COSMIC |
20 | g.32436338G>C | CA408563455 | ASXL1 | c.3626G>C (p.Ser1209Thr) c.3443G>C (p.Ser1148Thr) n.5979G>C c.1869+1757G>C (n.1869+1757G>C) c.3611G>C (p.Ser1204Thr) c.3623G>C (p.Ser1208Thr) c.3596G>C (p.Ser1199Thr) c.3542G>C (p.Ser1181Thr) c.2942G>C (p.Ser981Thr) c.3890G>C (p.Ser1297Thr) c.3887G>C (p.Ser1296Thr) c.3806G>C (p.Ser1269Thr) c.3737G>C (p.Ser1246Thr) c.3605G>C (p.Ser1202Thr) c.3473G>C (p.Ser1158Thr) | |
20 | g.32436338G>T | CA408563454 | ASXL1 | c.3626G>T (p.Ser1209Ile) c.3443G>T (p.Ser1148Ile) n.5979G>T c.1869+1757G>T (n.1869+1757G>T) c.3611G>T (p.Ser1204Ile) c.3623G>T (p.Ser1208Ile) c.3596G>T (p.Ser1199Ile) c.3542G>T (p.Ser1181Ile) c.2942G>T (p.Ser981Ile) c.3890G>T (p.Ser1297Ile) c.3887G>T (p.Ser1296Ile) c.3806G>T (p.Ser1269Ile) c.3737G>T (p.Ser1246Ile) c.3605G>T (p.Ser1202Ile) c.3473G>T (p.Ser1158Ile) | gnomAD v4 |
20 | g.32436339T>A | CA408563456 | ASXL1 | c.3627T>A (p.Ser1209Arg) c.3444T>A (p.Ser1148Arg) n.5980T>A c.1869+1758T>A (n.1869+1758T>A) c.3612T>A (p.Ser1204Arg) c.3624T>A (p.Ser1208Arg) c.3597T>A (p.Ser1199Arg) c.3543T>A (p.Ser1181Arg) c.2943T>A (p.Ser981Arg) c.3891T>A (p.Ser1297Arg) c.3888T>A (p.Ser1296Arg) c.3807T>A (p.Ser1269Arg) c.3738T>A (p.Ser1246Arg) c.3606T>A (p.Ser1202Arg) c.3474T>A (p.Ser1158Arg) | dbSNP |
20 | g.32436339T>C | CA510467369 | ASXL1 | c.3627T>C (p.Ser1209=) c.3444T>C (p.Ser1148=) n.5980T>C c.1869+1758T>C (n.1869+1758T>C) c.3612T>C (p.Ser1204=) c.3624T>C (p.Ser1208=) c.3597T>C (p.Ser1199=) c.3543T>C (p.Ser1181=) c.2943T>C (p.Ser981=) c.3891T>C (p.Ser1297=) c.3888T>C (p.Ser1296=) c.3807T>C (p.Ser1269=) c.3738T>C (p.Ser1246=) c.3606T>C (p.Ser1202=) c.3474T>C (p.Ser1158=) | |
20 | g.32436339T>G | CA408563457 | ASXL1 | c.3627T>G (p.Ser1209Arg) c.3444T>G (p.Ser1148Arg) n.5980T>G c.1869+1758T>G (n.1869+1758T>G) c.3612T>G (p.Ser1204Arg) c.3624T>G (p.Ser1208Arg) c.3597T>G (p.Ser1199Arg) c.3543T>G (p.Ser1181Arg) c.2943T>G (p.Ser981Arg) c.3891T>G (p.Ser1297Arg) c.3888T>G (p.Ser1296Arg) c.3807T>G (p.Ser1269Arg) c.3738T>G (p.Ser1246Arg) c.3606T>G (p.Ser1202Arg) c.3474T>G (p.Ser1158Arg) | |
20 | g.32436340T>A | CA408563458 | ASXL1 | c.3628T>A (p.Phe1210Ile) c.3445T>A (p.Phe1149Ile) n.5981T>A c.1869+1759T>A (n.1869+1759T>A) c.3613T>A (p.Phe1205Ile) c.3625T>A (p.Phe1209Ile) c.3598T>A (p.Phe1200Ile) c.3544T>A (p.Phe1182Ile) c.2944T>A (p.Phe982Ile) c.3892T>A (p.Phe1298Ile) c.3889T>A (p.Phe1297Ile) c.3808T>A (p.Phe1270Ile) c.3739T>A (p.Phe1247Ile) c.3607T>A (p.Phe1203Ile) c.3475T>A (p.Phe1159Ile) | |
20 | g.32436340T>C | CA408563459 | ASXL1 | c.3628T>C (p.Phe1210Leu) c.3445T>C (p.Phe1149Leu) n.5981T>C c.1869+1759T>C (n.1869+1759T>C) c.3613T>C (p.Phe1205Leu) c.3625T>C (p.Phe1209Leu) c.3598T>C (p.Phe1200Leu) c.3544T>C (p.Phe1182Leu) c.2944T>C (p.Phe982Leu) c.3892T>C (p.Phe1298Leu) c.3889T>C (p.Phe1297Leu) c.3808T>C (p.Phe1270Leu) c.3739T>C (p.Phe1247Leu) c.3607T>C (p.Phe1203Leu) c.3475T>C (p.Phe1159Leu) | |
20 | g.32436340T>G | CA408563460 | ASXL1 | c.3628T>G (p.Phe1210Val) c.3445T>G (p.Phe1149Val) n.5981T>G c.1869+1759T>G (n.1869+1759T>G) c.3613T>G (p.Phe1205Val) c.3625T>G (p.Phe1209Val) c.3598T>G (p.Phe1200Val) c.3544T>G (p.Phe1182Val) c.2944T>G (p.Phe982Val) c.3892T>G (p.Phe1298Val) c.3889T>G (p.Phe1297Val) c.3808T>G (p.Phe1270Val) c.3739T>G (p.Phe1247Val) c.3607T>G (p.Phe1203Val) c.3475T>G (p.Phe1159Val) | gnomAD v4 |
20 | g.32436341T>A | CA408563461 | ASXL1 | c.3629T>A (p.Phe1210Tyr) c.3446T>A (p.Phe1149Tyr) n.5982T>A c.1869+1760T>A (n.1869+1760T>A) c.3614T>A (p.Phe1205Tyr) c.3626T>A (p.Phe1209Tyr) c.3599T>A (p.Phe1200Tyr) c.3545T>A (p.Phe1182Tyr) c.2945T>A (p.Phe982Tyr) c.3893T>A (p.Phe1298Tyr) c.3890T>A (p.Phe1297Tyr) c.3809T>A (p.Phe1270Tyr) c.3740T>A (p.Phe1247Tyr) c.3608T>A (p.Phe1203Tyr) c.3476T>A (p.Phe1159Tyr) | |
20 | g.32436341T>C | CA408563462 | ASXL1 | c.3629T>C (p.Phe1210Ser) c.3446T>C (p.Phe1149Ser) n.5982T>C c.1869+1760T>C (n.1869+1760T>C) c.3614T>C (p.Phe1205Ser) c.3626T>C (p.Phe1209Ser) c.3599T>C (p.Phe1200Ser) c.3545T>C (p.Phe1182Ser) c.2945T>C (p.Phe982Ser) c.3893T>C (p.Phe1298Ser) c.3890T>C (p.Phe1297Ser) c.3809T>C (p.Phe1270Ser) c.3740T>C (p.Phe1247Ser) c.3608T>C (p.Phe1203Ser) c.3476T>C (p.Phe1159Ser) | |
20 | g.32436341T>G | CA408563463 | ASXL1 | c.3629T>G (p.Phe1210Cys) c.3446T>G (p.Phe1149Cys) n.5982T>G c.1869+1760T>G (n.1869+1760T>G) c.3614T>G (p.Phe1205Cys) c.3626T>G (p.Phe1209Cys) c.3599T>G (p.Phe1200Cys) c.3545T>G (p.Phe1182Cys) c.2945T>G (p.Phe982Cys) c.3893T>G (p.Phe1298Cys) c.3890T>G (p.Phe1297Cys) c.3809T>G (p.Phe1270Cys) c.3740T>G (p.Phe1247Cys) c.3608T>G (p.Phe1203Cys) c.3476T>G (p.Phe1159Cys) | |
20 | g.32436342T>A | CA408563464 | ASXL1 | c.3630T>A (p.Phe1210Leu) c.3447T>A (p.Phe1149Leu) n.5983T>A c.1869+1761T>A (n.1869+1761T>A) c.3615T>A (p.Phe1205Leu) c.3627T>A (p.Phe1209Leu) c.3600T>A (p.Phe1200Leu) c.3546T>A (p.Phe1182Leu) c.2946T>A (p.Phe982Leu) c.3894T>A (p.Phe1298Leu) c.3891T>A (p.Phe1297Leu) c.3810T>A (p.Phe1270Leu) c.3741T>A (p.Phe1247Leu) c.3609T>A (p.Phe1203Leu) c.3477T>A (p.Phe1159Leu) | |
20 | g.32436342T>C | CA9808866 | ASXL1 | c.3630T>C (p.Phe1210=) c.3447T>C (p.Phe1149=) n.5983T>C c.1869+1761T>C (n.1869+1761T>C) c.3615T>C (p.Phe1205=) c.3627T>C (p.Phe1209=) c.3600T>C (p.Phe1200=) c.3546T>C (p.Phe1182=) c.2946T>C (p.Phe982=) c.3894T>C (p.Phe1298=) c.3891T>C (p.Phe1297=) c.3810T>C (p.Phe1270=) c.3741T>C (p.Phe1247=) c.3609T>C (p.Phe1203=) c.3477T>C (p.Phe1159=) | dbSNP ExAC gnomAD v2 |
20 | g.32436342T>G | CA408563465 | ASXL1 | c.3630T>G (p.Phe1210Leu) c.3447T>G (p.Phe1149Leu) n.5983T>G c.1869+1761T>G (n.1869+1761T>G) c.3615T>G (p.Phe1205Leu) c.3627T>G (p.Phe1209Leu) c.3600T>G (p.Phe1200Leu) c.3546T>G (p.Phe1182Leu) c.2946T>G (p.Phe982Leu) c.3894T>G (p.Phe1298Leu) c.3891T>G (p.Phe1297Leu) c.3810T>G (p.Phe1270Leu) c.3741T>G (p.Phe1247Leu) c.3609T>G (p.Phe1203Leu) c.3477T>G (p.Phe1159Leu) | |
20 | g.32436342T= | CA2360293653 | ASXL1 | c.3630T= (p.Phe1210=) c.3447T= (p.Phe1149=) n.5983T= c.1869+1761T= (n.1869+1761T=) c.3615T= (p.Phe1205=) c.3627T= (p.Phe1209=) c.3600T= (p.Phe1200=) c.3546T= (p.Phe1182=) c.2946T= (p.Phe982=) c.3894T= (p.Phe1298=) c.3891T= (p.Phe1297=) c.3810T= (p.Phe1270=) c.3741T= (p.Phe1247=) c.3609T= (p.Phe1203=) c.3477T= (p.Phe1159=) | |
20 | g.32436343G>A | CA408563466 | ASXL1 | c.3631G>A (p.Asp1211Asn) c.3448G>A (p.Asp1150Asn) n.5984G>A c.1869+1762G>A (n.1869+1762G>A) c.3616G>A (p.Asp1206Asn) c.3628G>A (p.Asp1210Asn) c.3601G>A (p.Asp1201Asn) c.3547G>A (p.Asp1183Asn) c.2947G>A (p.Asp983Asn) c.3895G>A (p.Asp1299Asn) c.3892G>A (p.Asp1298Asn) c.3811G>A (p.Asp1271Asn) c.3742G>A (p.Asp1248Asn) c.3610G>A (p.Asp1204Asn) c.3478G>A (p.Asp1160Asn) | |
20 | g.32436343G>C | CA408563467 | ASXL1 | c.3631G>C (p.Asp1211His) c.3448G>C (p.Asp1150His) n.5984G>C c.1869+1762G>C (n.1869+1762G>C) c.3616G>C (p.Asp1206His) c.3628G>C (p.Asp1210His) c.3601G>C (p.Asp1201His) c.3547G>C (p.Asp1183His) c.2947G>C (p.Asp983His) c.3895G>C (p.Asp1299His) c.3892G>C (p.Asp1298His) c.3811G>C (p.Asp1271His) c.3742G>C (p.Asp1248His) c.3610G>C (p.Asp1204His) c.3478G>C (p.Asp1160His) | |
20 | g.32436343G>T | CA408563468 | ASXL1 | c.3631G>T (p.Asp1211Tyr) c.3448G>T (p.Asp1150Tyr) n.5984G>T c.1869+1762G>T (n.1869+1762G>T) c.3616G>T (p.Asp1206Tyr) c.3628G>T (p.Asp1210Tyr) c.3601G>T (p.Asp1201Tyr) c.3547G>T (p.Asp1183Tyr) c.2947G>T (p.Asp983Tyr) c.3895G>T (p.Asp1299Tyr) c.3892G>T (p.Asp1298Tyr) c.3811G>T (p.Asp1271Tyr) c.3742G>T (p.Asp1248Tyr) c.3610G>T (p.Asp1204Tyr) c.3478G>T (p.Asp1160Tyr) | gnomAD v4 |
20 | g.32436344del | CA645612968 | ASXL1 | c.3632del (p.Asp1211AlafsTer6) c.3449del (p.Asp1150AlafsTer6) n.5985del c.1869+1763del (n.1869+1763del) c.3617del (p.Asp1206AlafsTer6) c.3629del (p.Asp1210AlafsTer6) c.3602del (p.Asp1201AlafsTer6) c.3548del (p.Asp1183AlafsTer6) c.2948del (p.Asp983AlafsTer6) c.3896del (p.Asp1299AlafsTer6) c.3893del (p.Asp1298AlafsTer6) c.3812del (p.Asp1271AlafsTer6) c.3743del (p.Asp1248AlafsTer6) c.3611del (p.Asp1204AlafsTer6) c.3479del (p.Asp1160AlafsTer6) | COSMIC COSMIC |
20 | g.32436344A>C | CA408563471 | ASXL1 | c.3632A>C (p.Asp1211Ala) c.3449A>C (p.Asp1150Ala) n.5985A>C c.1869+1763A>C (n.1869+1763A>C) c.3617A>C (p.Asp1206Ala) c.3629A>C (p.Asp1210Ala) c.3602A>C (p.Asp1201Ala) c.3548A>C (p.Asp1183Ala) c.2948A>C (p.Asp983Ala) c.3896A>C (p.Asp1299Ala) c.3893A>C (p.Asp1298Ala) c.3812A>C (p.Asp1271Ala) c.3743A>C (p.Asp1248Ala) c.3611A>C (p.Asp1204Ala) c.3479A>C (p.Asp1160Ala) | |
20 | g.32436344A>G | CA408563470 | ASXL1 | c.3632A>G (p.Asp1211Gly) c.3449A>G (p.Asp1150Gly) n.5985A>G c.1869+1763A>G (n.1869+1763A>G) c.3617A>G (p.Asp1206Gly) c.3629A>G (p.Asp1210Gly) c.3602A>G (p.Asp1201Gly) c.3548A>G (p.Asp1183Gly) c.2948A>G (p.Asp983Gly) c.3896A>G (p.Asp1299Gly) c.3893A>G (p.Asp1298Gly) c.3812A>G (p.Asp1271Gly) c.3743A>G (p.Asp1248Gly) c.3611A>G (p.Asp1204Gly) c.3479A>G (p.Asp1160Gly) | |
20 | g.32436344A>T | CA408563469 | ASXL1 | c.3632A>T (p.Asp1211Val) c.3449A>T (p.Asp1150Val) n.5985A>T c.1869+1763A>T (n.1869+1763A>T) c.3617A>T (p.Asp1206Val) c.3629A>T (p.Asp1210Val) c.3602A>T (p.Asp1201Val) c.3548A>T (p.Asp1183Val) c.2948A>T (p.Asp983Val) c.3896A>T (p.Asp1299Val) c.3893A>T (p.Asp1298Val) c.3812A>T (p.Asp1271Val) c.3743A>T (p.Asp1248Val) c.3611A>T (p.Asp1204Val) c.3479A>T (p.Asp1160Val) | dbSNP |
20 | g.32436344_32436348delinsACTCC | CA2360293654 | ASXL1 | c.3632_3636delinsACTCC (p.Asp1211=) c.3449_3453delinsACTCC (p.Asp1150=) n.5985_5989delinsACTCC c.1869+1763_1869+1767delinsACTCC (n.1869+1763_1869+1767delinsACTCC) c.3617_3621delinsACTCC (p.Asp1206=) c.3629_3633delinsACTCC (p.Asp1210=) c.3602_3606delinsACTCC (p.Asp1201=) c.3548_3552delinsACTCC (p.Asp1183=) c.2948_2952delinsACTCC (p.Asp983=) c.3896_3900delinsACTCC (p.Asp1299=) c.3893_3897delinsACTCC (p.Asp1298=) c.3812_3816delinsACTCC (p.Asp1271=) c.3743_3747delinsACTCC (p.Asp1248=) c.3611_3615delinsACTCC (p.Asp1204=) c.3479_3483delinsACTCC (p.Asp1160=) | |
20 | g.32436345C>A | CA408563472 | ASXL1 | c.3633C>A (p.Asp1211Glu) c.3450C>A (p.Asp1150Glu) n.5986C>A c.1869+1764C>A (n.1869+1764C>A) c.3618C>A (p.Asp1206Glu) c.3630C>A (p.Asp1210Glu) c.3603C>A (p.Asp1201Glu) c.3549C>A (p.Asp1183Glu) c.2949C>A (p.Asp983Glu) c.3897C>A (p.Asp1299Glu) c.3894C>A (p.Asp1298Glu) c.3813C>A (p.Asp1271Glu) c.3744C>A (p.Asp1248Glu) c.3612C>A (p.Asp1204Glu) c.3480C>A (p.Asp1160Glu) | COSMIC |
20 | g.32436345C= | CA2360293655 | ASXL1 | c.3633C= (p.Asp1211=) c.3450C= (p.Asp1150=) n.5986C= c.1869+1764C= (n.1869+1764C=) c.3618C= (p.Asp1206=) c.3630C= (p.Asp1210=) c.3603C= (p.Asp1201=) c.3549C= (p.Asp1183=) c.2949C= (p.Asp983=) c.3897C= (p.Asp1299=) c.3894C= (p.Asp1298=) c.3813C= (p.Asp1271=) c.3744C= (p.Asp1248=) c.3612C= (p.Asp1204=) c.3480C= (p.Asp1160=) | |
20 | g.32436345C>G | CA408563473 | ASXL1 | c.3633C>G (p.Asp1211Glu) c.3450C>G (p.Asp1150Glu) n.5986C>G c.1869+1764C>G (n.1869+1764C>G) c.3618C>G (p.Asp1206Glu) c.3630C>G (p.Asp1210Glu) c.3603C>G (p.Asp1201Glu) c.3549C>G (p.Asp1183Glu) c.2949C>G (p.Asp983Glu) c.3897C>G (p.Asp1299Glu) c.3894C>G (p.Asp1298Glu) c.3813C>G (p.Asp1271Glu) c.3744C>G (p.Asp1248Glu) c.3612C>G (p.Asp1204Glu) c.3480C>G (p.Asp1160Glu) | |
20 | g.32436345C>T | CA9808867 | ASXL1 | c.3633C>T (p.Asp1211=) c.3450C>T (p.Asp1150=) n.5986C>T c.1869+1764C>T (n.1869+1764C>T) c.3618C>T (p.Asp1206=) c.3630C>T (p.Asp1210=) c.3603C>T (p.Asp1201=) c.3549C>T (p.Asp1183=) c.2949C>T (p.Asp983=) c.3897C>T (p.Asp1299=) c.3894C>T (p.Asp1298=) c.3813C>T (p.Asp1271=) c.3744C>T (p.Asp1248=) c.3612C>T (p.Asp1204=) c.3480C>T (p.Asp1160=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436349_32436352dup | CA2577366315 | ASXL1 | c.3637_3640dup (p.His1214ProfsTer12) c.3454_3457dup (p.His1153ProfsTer12) n.5990_5993dup c.1869+1768_1869+1771dup (n.1869+1768_1869+1771dup) c.3622_3625dup (p.His1209ProfsTer12) c.3634_3637dup (p.His1213ProfsTer12) c.3607_3610dup (p.His1204ProfsTer12) c.3553_3556dup (p.His1186ProfsTer12) c.2953_2956dup (p.His986ProfsTer12) c.3901_3904dup (p.His1302ProfsTer12) c.3898_3901dup (p.His1301ProfsTer12) c.3817_3820dup (p.His1274ProfsTer12) c.3748_3751dup (p.His1251ProfsTer12) c.3616_3619dup (p.His1207ProfsTer12) c.3484_3487dup (p.His1163ProfsTer12) | |
20 | g.32436349_32436352del | CA645612969 | ASXL1 | c.3637_3640del (p.Leu1213IlefsTer3) c.3454_3457del (p.Leu1152IlefsTer3) n.5990_5993del c.1869+1768_1869+1771del (n.1869+1768_1869+1771del) c.3622_3625del (p.Leu1208IlefsTer3) c.3634_3637del (p.Leu1212IlefsTer3) c.3607_3610del (p.Leu1203IlefsTer3) c.3553_3556del (p.Leu1185IlefsTer3) c.2953_2956del (p.Leu985IlefsTer3) c.3901_3904del (p.Leu1301IlefsTer3) c.3898_3901del (p.Leu1300IlefsTer3) c.3817_3820del (p.Leu1273IlefsTer3) c.3748_3751del (p.Leu1250IlefsTer3) c.3616_3619del (p.Leu1206IlefsTer3) c.3484_3487del (p.Leu1162IlefsTer3) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
20 | g.32436346T>A | CA408563474 | ASXL1 | c.3634T>A (p.Ser1212Thr) c.3451T>A (p.Ser1151Thr) n.5987T>A c.1869+1765T>A (n.1869+1765T>A) c.3619T>A (p.Ser1207Thr) c.3631T>A (p.Ser1211Thr) c.3604T>A (p.Ser1202Thr) c.3550T>A (p.Ser1184Thr) c.2950T>A (p.Ser984Thr) c.3898T>A (p.Ser1300Thr) c.3895T>A (p.Ser1299Thr) c.3814T>A (p.Ser1272Thr) c.3745T>A (p.Ser1249Thr) c.3613T>A (p.Ser1205Thr) c.3481T>A (p.Ser1161Thr) | |
20 | g.32436346T>C | CA408563475 | ASXL1 | c.3634T>C (p.Ser1212Pro) c.3451T>C (p.Ser1151Pro) n.5987T>C c.1869+1765T>C (n.1869+1765T>C) c.3619T>C (p.Ser1207Pro) c.3631T>C (p.Ser1211Pro) c.3604T>C (p.Ser1202Pro) c.3550T>C (p.Ser1184Pro) c.2950T>C (p.Ser984Pro) c.3898T>C (p.Ser1300Pro) c.3895T>C (p.Ser1299Pro) c.3814T>C (p.Ser1272Pro) c.3745T>C (p.Ser1249Pro) c.3613T>C (p.Ser1205Pro) c.3481T>C (p.Ser1161Pro) | dbSNP |
20 | g.32436346T>G | CA408563476 | ASXL1 | c.3634T>G (p.Ser1212Ala) c.3451T>G (p.Ser1151Ala) n.5987T>G c.1869+1765T>G (n.1869+1765T>G) c.3619T>G (p.Ser1207Ala) c.3631T>G (p.Ser1211Ala) c.3604T>G (p.Ser1202Ala) c.3550T>G (p.Ser1184Ala) c.2950T>G (p.Ser984Ala) c.3898T>G (p.Ser1300Ala) c.3895T>G (p.Ser1299Ala) c.3814T>G (p.Ser1272Ala) c.3745T>G (p.Ser1249Ala) c.3613T>G (p.Ser1205Ala) c.3481T>G (p.Ser1161Ala) | |
20 | g.32436346T= | CA2360293657 | ASXL1 | c.3634T= (p.Ser1212=) c.3451T= (p.Ser1151=) n.5987T= c.1869+1765T= (n.1869+1765T=) c.3619T= (p.Ser1207=) c.3631T= (p.Ser1211=) c.3604T= (p.Ser1202=) c.3550T= (p.Ser1184=) c.2950T= (p.Ser984=) c.3898T= (p.Ser1300=) c.3895T= (p.Ser1299=) c.3814T= (p.Ser1272=) c.3745T= (p.Ser1249=) c.3613T= (p.Ser1205=) c.3481T= (p.Ser1161=) | |
20 | g.32436346_32436347delinsTC | CA2360293656 | ASXL1 | c.3634_3635delinsTC (p.Ser1212=) c.3451_3452delinsTC (p.Ser1151=) n.5987_5988delinsTC c.1869+1765_1869+1766delinsTC (n.1869+1765_1869+1766delinsTC) c.3619_3620delinsTC (p.Ser1207=) c.3631_3632delinsTC (p.Ser1211=) c.3604_3605delinsTC (p.Ser1202=) c.3550_3551delinsTC (p.Ser1184=) c.2950_2951delinsTC (p.Ser984=) c.3898_3899delinsTC (p.Ser1300=) c.3895_3896delinsTC (p.Ser1299=) c.3814_3815delinsTC (p.Ser1272=) c.3745_3746delinsTC (p.Ser1249=) c.3613_3614delinsTC (p.Ser1205=) c.3481_3482delinsTC (p.Ser1161=) | |
20 | g.32436347C>A | CA408563477 | ASXL1 | c.3635C>A (p.Ser1212Tyr) c.3452C>A (p.Ser1151Tyr) n.5988C>A c.1869+1766C>A (n.1869+1766C>A) c.3620C>A (p.Ser1207Tyr) c.3632C>A (p.Ser1211Tyr) c.3605C>A (p.Ser1202Tyr) c.3551C>A (p.Ser1184Tyr) c.2951C>A (p.Ser984Tyr) c.3899C>A (p.Ser1300Tyr) c.3896C>A (p.Ser1299Tyr) c.3815C>A (p.Ser1272Tyr) c.3746C>A (p.Ser1249Tyr) c.3614C>A (p.Ser1205Tyr) c.3482C>A (p.Ser1161Tyr) | |
20 | g.32436347C= | CA2360293658 | ASXL1 | c.3635C= (p.Ser1212=) c.3452C= (p.Ser1151=) n.5988C= c.1869+1766C= (n.1869+1766C=) c.3620C= (p.Ser1207=) c.3632C= (p.Ser1211=) c.3605C= (p.Ser1202=) c.3551C= (p.Ser1184=) c.2951C= (p.Ser984=) c.3899C= (p.Ser1300=) c.3896C= (p.Ser1299=) c.3815C= (p.Ser1272=) c.3746C= (p.Ser1249=) c.3614C= (p.Ser1205=) c.3482C= (p.Ser1161=) | |
20 | g.32436347C>G | CA408563478 | ASXL1 | c.3635C>G (p.Ser1212Cys) c.3452C>G (p.Ser1151Cys) n.5988C>G c.1869+1766C>G (n.1869+1766C>G) c.3620C>G (p.Ser1207Cys) c.3632C>G (p.Ser1211Cys) c.3605C>G (p.Ser1202Cys) c.3551C>G (p.Ser1184Cys) c.2951C>G (p.Ser984Cys) c.3899C>G (p.Ser1300Cys) c.3896C>G (p.Ser1299Cys) c.3815C>G (p.Ser1272Cys) c.3746C>G (p.Ser1249Cys) c.3614C>G (p.Ser1205Cys) c.3482C>G (p.Ser1161Cys) | gnomAD v4 |
20 | g.32436347C>T | CA236150 | ASXL1 | c.3635C>T (p.Ser1212Phe) c.3452C>T (p.Ser1151Phe) n.5988C>T c.1869+1766C>T (n.1869+1766C>T) c.3620C>T (p.Ser1207Phe) c.3632C>T (p.Ser1211Phe) c.3605C>T (p.Ser1202Phe) c.3551C>T (p.Ser1184Phe) c.2951C>T (p.Ser984Phe) c.3899C>T (p.Ser1300Phe) c.3896C>T (p.Ser1299Phe) c.3815C>T (p.Ser1272Phe) c.3746C>T (p.Ser1249Phe) c.3614C>T (p.Ser1205Phe) c.3482C>T (p.Ser1161Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.32436349del | CA645612970 | ASXL1 | c.3637del (p.Leu1213SerfsTer4) c.3454del (p.Leu1152SerfsTer4) n.5990del c.1869+1768del (n.1869+1768del) c.3622del (p.Leu1208SerfsTer4) c.3634del (p.Leu1212SerfsTer4) c.3607del (p.Leu1203SerfsTer4) c.3553del (p.Leu1185SerfsTer4) c.2953del (p.Leu985SerfsTer4) c.3901del (p.Leu1301SerfsTer4) c.3898del (p.Leu1300SerfsTer4) c.3817del (p.Leu1273SerfsTer4) c.3748del (p.Leu1250SerfsTer4) c.3616del (p.Leu1206SerfsTer4) c.3484del (p.Leu1162SerfsTer4) | ClinVar dbSNP COSMIC COSMIC |
20 | g.32436348C>A | CA510467370 | ASXL1 | c.3636C>A (p.Ser1212=) c.3453C>A (p.Ser1151=) n.5989C>A c.1869+1767C>A (n.1869+1767C>A) c.3621C>A (p.Ser1207=) c.3633C>A (p.Ser1211=) c.3606C>A (p.Ser1202=) c.3552C>A (p.Ser1184=) c.2952C>A (p.Ser984=) c.3900C>A (p.Ser1300=) c.3897C>A (p.Ser1299=) c.3816C>A (p.Ser1272=) c.3747C>A (p.Ser1249=) c.3615C>A (p.Ser1205=) c.3483C>A (p.Ser1161=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436348C= | CA2360293659 | ASXL1 | c.3636C= (p.Ser1212=) c.3453C= (p.Ser1151=) n.5989C= c.1869+1767C= (n.1869+1767C=) c.3621C= (p.Ser1207=) c.3633C= (p.Ser1211=) c.3606C= (p.Ser1202=) c.3552C= (p.Ser1184=) c.2952C= (p.Ser984=) c.3900C= (p.Ser1300=) c.3897C= (p.Ser1299=) c.3816C= (p.Ser1272=) c.3747C= (p.Ser1249=) c.3615C= (p.Ser1205=) c.3483C= (p.Ser1161=) | |
20 | g.32436348C>G | CA510467371 | ASXL1 | c.3636C>G (p.Ser1212=) c.3453C>G (p.Ser1151=) n.5989C>G c.1869+1767C>G (n.1869+1767C>G) c.3621C>G (p.Ser1207=) c.3633C>G (p.Ser1211=) c.3606C>G (p.Ser1202=) c.3552C>G (p.Ser1184=) c.2952C>G (p.Ser984=) c.3900C>G (p.Ser1300=) c.3897C>G (p.Ser1299=) c.3816C>G (p.Ser1272=) c.3747C>G (p.Ser1249=) c.3615C>G (p.Ser1205=) c.3483C>G (p.Ser1161=) | |
20 | g.32436348C>T | CA510467372 | ASXL1 | c.3636C>T (p.Ser1212=) c.3453C>T (p.Ser1151=) n.5989C>T c.1869+1767C>T (n.1869+1767C>T) c.3621C>T (p.Ser1207=) c.3633C>T (p.Ser1211=) c.3606C>T (p.Ser1202=) c.3552C>T (p.Ser1184=) c.2952C>T (p.Ser984=) c.3900C>T (p.Ser1300=) c.3897C>T (p.Ser1299=) c.3816C>T (p.Ser1272=) c.3747C>T (p.Ser1249=) c.3615C>T (p.Ser1205=) c.3483C>T (p.Ser1161=) | dbSNP gnomAD v4 |
20 | g.32436349C>A | CA408563479 | ASXL1 | c.3637C>A (p.Leu1213Ile) c.3454C>A (p.Leu1152Ile) n.5990C>A c.1869+1768C>A (n.1869+1768C>A) c.3622C>A (p.Leu1208Ile) c.3634C>A (p.Leu1212Ile) c.3607C>A (p.Leu1203Ile) c.3553C>A (p.Leu1185Ile) c.2953C>A (p.Leu985Ile) c.3901C>A (p.Leu1301Ile) c.3898C>A (p.Leu1300Ile) c.3817C>A (p.Leu1273Ile) c.3748C>A (p.Leu1250Ile) c.3616C>A (p.Leu1206Ile) c.3484C>A (p.Leu1162Ile) | dbSNP |
20 | g.32436349C= | CA2360293660 | ASXL1 | c.3637C= (p.Leu1213=) c.3454C= (p.Leu1152=) n.5990C= c.1869+1768C= (n.1869+1768C=) c.3622C= (p.Leu1208=) c.3634C= (p.Leu1212=) c.3607C= (p.Leu1203=) c.3553C= (p.Leu1185=) c.2953C= (p.Leu985=) c.3901C= (p.Leu1301=) c.3898C= (p.Leu1300=) c.3817C= (p.Leu1273=) c.3748C= (p.Leu1250=) c.3616C= (p.Leu1206=) c.3484C= (p.Leu1162=) | |
20 | g.32436349C>G | CA408563480 | ASXL1 | c.3637C>G (p.Leu1213Val) c.3454C>G (p.Leu1152Val) n.5990C>G c.1869+1768C>G (n.1869+1768C>G) c.3622C>G (p.Leu1208Val) c.3634C>G (p.Leu1212Val) c.3607C>G (p.Leu1203Val) c.3553C>G (p.Leu1185Val) c.2953C>G (p.Leu985Val) c.3901C>G (p.Leu1301Val) c.3898C>G (p.Leu1300Val) c.3817C>G (p.Leu1273Val) c.3748C>G (p.Leu1250Val) c.3616C>G (p.Leu1206Val) c.3484C>G (p.Leu1162Val) | dbSNP gnomAD v4 |
20 | g.32436349C>T | CA408563481 | ASXL1 | c.3637C>T (p.Leu1213Phe) c.3454C>T (p.Leu1152Phe) n.5990C>T c.1869+1768C>T (n.1869+1768C>T) c.3622C>T (p.Leu1208Phe) c.3634C>T (p.Leu1212Phe) c.3607C>T (p.Leu1203Phe) c.3553C>T (p.Leu1185Phe) c.2953C>T (p.Leu985Phe) c.3901C>T (p.Leu1301Phe) c.3898C>T (p.Leu1300Phe) c.3817C>T (p.Leu1273Phe) c.3748C>T (p.Leu1250Phe) c.3616C>T (p.Leu1206Phe) c.3484C>T (p.Leu1162Phe) | gnomAD v4 |
20 | g.32436350T>A | CA408563484 | ASXL1 | c.3638T>A (p.Leu1213His) c.3455T>A (p.Leu1152His) n.5991T>A c.1869+1769T>A (n.1869+1769T>A) c.3623T>A (p.Leu1208His) c.3635T>A (p.Leu1212His) c.3608T>A (p.Leu1203His) c.3554T>A (p.Leu1185His) c.2954T>A (p.Leu985His) c.3902T>A (p.Leu1301His) c.3899T>A (p.Leu1300His) c.3818T>A (p.Leu1273His) c.3749T>A (p.Leu1250His) c.3617T>A (p.Leu1206His) c.3485T>A (p.Leu1162His) | |
20 | g.32436350T>C | CA408563483 | ASXL1 | c.3638T>C (p.Leu1213Pro) c.3455T>C (p.Leu1152Pro) n.5991T>C c.1869+1769T>C (n.1869+1769T>C) c.3623T>C (p.Leu1208Pro) c.3635T>C (p.Leu1212Pro) c.3608T>C (p.Leu1203Pro) c.3554T>C (p.Leu1185Pro) c.2954T>C (p.Leu985Pro) c.3902T>C (p.Leu1301Pro) c.3899T>C (p.Leu1300Pro) c.3818T>C (p.Leu1273Pro) c.3749T>C (p.Leu1250Pro) c.3617T>C (p.Leu1206Pro) c.3485T>C (p.Leu1162Pro) | |
20 | g.32436350T>G | CA408563482 | ASXL1 | c.3638T>G (p.Leu1213Arg) c.3455T>G (p.Leu1152Arg) n.5991T>G c.1869+1769T>G (n.1869+1769T>G) c.3623T>G (p.Leu1208Arg) c.3635T>G (p.Leu1212Arg) c.3608T>G (p.Leu1203Arg) c.3554T>G (p.Leu1185Arg) c.2954T>G (p.Leu985Arg) c.3902T>G (p.Leu1301Arg) c.3899T>G (p.Leu1300Arg) c.3818T>G (p.Leu1273Arg) c.3749T>G (p.Leu1250Arg) c.3617T>G (p.Leu1206Arg) c.3485T>G (p.Leu1162Arg) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436350T= | CA2360293661 | ASXL1 | c.3638T= (p.Leu1213=) c.3455T= (p.Leu1152=) n.5991T= c.1869+1769T= (n.1869+1769T=) c.3623T= (p.Leu1208=) c.3635T= (p.Leu1212=) c.3608T= (p.Leu1203=) c.3554T= (p.Leu1185=) c.2954T= (p.Leu985=) c.3902T= (p.Leu1301=) c.3899T= (p.Leu1300=) c.3818T= (p.Leu1273=) c.3749T= (p.Leu1250=) c.3617T= (p.Leu1206=) c.3485T= (p.Leu1162=) | |
20 | g.32436351C>A | CA510467373 | ASXL1 | c.3639C>A (p.Leu1213=) c.3456C>A (p.Leu1152=) n.5992C>A c.1869+1770C>A (n.1869+1770C>A) c.3624C>A (p.Leu1208=) c.3636C>A (p.Leu1212=) c.3609C>A (p.Leu1203=) c.3555C>A (p.Leu1185=) c.2955C>A (p.Leu985=) c.3903C>A (p.Leu1301=) c.3900C>A (p.Leu1300=) c.3819C>A (p.Leu1273=) c.3750C>A (p.Leu1250=) c.3618C>A (p.Leu1206=) c.3486C>A (p.Leu1162=) | dbSNP |
20 | g.32436351C= | CA2360293662 | ASXL1 | c.3639C= (p.Leu1213=) c.3456C= (p.Leu1152=) n.5992C= c.1869+1770C= (n.1869+1770C=) c.3624C= (p.Leu1208=) c.3636C= (p.Leu1212=) c.3609C= (p.Leu1203=) c.3555C= (p.Leu1185=) c.2955C= (p.Leu985=) c.3903C= (p.Leu1301=) c.3900C= (p.Leu1300=) c.3819C= (p.Leu1273=) c.3750C= (p.Leu1250=) c.3618C= (p.Leu1206=) c.3486C= (p.Leu1162=) | |
20 | g.32436351C>G | CA510467374 | ASXL1 | c.3639C>G (p.Leu1213=) c.3456C>G (p.Leu1152=) n.5992C>G c.1869+1770C>G (n.1869+1770C>G) c.3624C>G (p.Leu1208=) c.3636C>G (p.Leu1212=) c.3609C>G (p.Leu1203=) c.3555C>G (p.Leu1185=) c.2955C>G (p.Leu985=) c.3903C>G (p.Leu1301=) c.3900C>G (p.Leu1300=) c.3819C>G (p.Leu1273=) c.3750C>G (p.Leu1250=) c.3618C>G (p.Leu1206=) c.3486C>G (p.Leu1162=) | |
20 | g.32436351C>T | CA510467375 | ASXL1 | c.3639C>T (p.Leu1213=) c.3456C>T (p.Leu1152=) n.5992C>T c.1869+1770C>T (n.1869+1770C>T) c.3624C>T (p.Leu1208=) c.3636C>T (p.Leu1212=) c.3609C>T (p.Leu1203=) c.3555C>T (p.Leu1185=) c.2955C>T (p.Leu985=) c.3903C>T (p.Leu1301=) c.3900C>T (p.Leu1300=) c.3819C>T (p.Leu1273=) c.3750C>T (p.Leu1250=) c.3618C>T (p.Leu1206=) c.3486C>T (p.Leu1162=) | dbSNP |
20 | g.32436352C>A | CA408563485 | ASXL1 | c.3640C>A (p.His1214Asn) c.3457C>A (p.His1153Asn) n.5993C>A c.1869+1771C>A (n.1869+1771C>A) c.3625C>A (p.His1209Asn) c.3637C>A (p.His1213Asn) c.3610C>A (p.His1204Asn) c.3556C>A (p.His1186Asn) c.2956C>A (p.His986Asn) c.3904C>A (p.His1302Asn) c.3901C>A (p.His1301Asn) c.3820C>A (p.His1274Asn) c.3751C>A (p.His1251Asn) c.3619C>A (p.His1207Asn) c.3487C>A (p.His1163Asn) | |
20 | g.32436352C>G | CA408563486 | ASXL1 | c.3640C>G (p.His1214Asp) c.3457C>G (p.His1153Asp) n.5993C>G c.1869+1771C>G (n.1869+1771C>G) c.3625C>G (p.His1209Asp) c.3637C>G (p.His1213Asp) c.3610C>G (p.His1204Asp) c.3556C>G (p.His1186Asp) c.2956C>G (p.His986Asp) c.3904C>G (p.His1302Asp) c.3901C>G (p.His1301Asp) c.3820C>G (p.His1274Asp) c.3751C>G (p.His1251Asp) c.3619C>G (p.His1207Asp) c.3487C>G (p.His1163Asp) | |
20 | g.32436352C>T | CA408563487 | ASXL1 | c.3640C>T (p.His1214Tyr) c.3457C>T (p.His1153Tyr) n.5993C>T c.1869+1771C>T (n.1869+1771C>T) c.3625C>T (p.His1209Tyr) c.3637C>T (p.His1213Tyr) c.3610C>T (p.His1204Tyr) c.3556C>T (p.His1186Tyr) c.2956C>T (p.His986Tyr) c.3904C>T (p.His1302Tyr) c.3901C>T (p.His1301Tyr) c.3820C>T (p.His1274Tyr) c.3751C>T (p.His1251Tyr) c.3619C>T (p.His1207Tyr) c.3487C>T (p.His1163Tyr) | |
20 | g.32436353A>C | CA408563488 | ASXL1 | c.3641A>C (p.His1214Pro) c.3458A>C (p.His1153Pro) n.5994A>C c.1869+1772A>C (n.1869+1772A>C) c.3626A>C (p.His1209Pro) c.3638A>C (p.His1213Pro) c.3611A>C (p.His1204Pro) c.3557A>C (p.His1186Pro) c.2957A>C (p.His986Pro) c.3905A>C (p.His1302Pro) c.3902A>C (p.His1301Pro) c.3821A>C (p.His1274Pro) c.3752A>C (p.His1251Pro) c.3620A>C (p.His1207Pro) c.3488A>C (p.His1163Pro) | |
20 | g.32436353A>G | CA408563489 | ASXL1 | c.3641A>G (p.His1214Arg) c.3458A>G (p.His1153Arg) n.5994A>G c.1869+1772A>G (n.1869+1772A>G) c.3626A>G (p.His1209Arg) c.3638A>G (p.His1213Arg) c.3611A>G (p.His1204Arg) c.3557A>G (p.His1186Arg) c.2957A>G (p.His986Arg) c.3905A>G (p.His1302Arg) c.3902A>G (p.His1301Arg) c.3821A>G (p.His1274Arg) c.3752A>G (p.His1251Arg) c.3620A>G (p.His1207Arg) c.3488A>G (p.His1163Arg) | |
20 | g.32436353A>T | CA408563490 | ASXL1 | c.3641A>T (p.His1214Leu) c.3458A>T (p.His1153Leu) n.5994A>T c.1869+1772A>T (n.1869+1772A>T) c.3626A>T (p.His1209Leu) c.3638A>T (p.His1213Leu) c.3611A>T (p.His1204Leu) c.3557A>T (p.His1186Leu) c.2957A>T (p.His986Leu) c.3905A>T (p.His1302Leu) c.3902A>T (p.His1301Leu) c.3821A>T (p.His1274Leu) c.3752A>T (p.His1251Leu) c.3620A>T (p.His1207Leu) c.3488A>T (p.His1163Leu) | |
20 | g.32436354T>A | CA408563492 | ASXL1 | c.3642T>A (p.His1214Gln) c.3459T>A (p.His1153Gln) n.5995T>A c.1869+1773T>A (n.1869+1773T>A) c.3627T>A (p.His1209Gln) c.3639T>A (p.His1213Gln) c.3612T>A (p.His1204Gln) c.3558T>A (p.His1186Gln) c.2958T>A (p.His986Gln) c.3906T>A (p.His1302Gln) c.3903T>A (p.His1301Gln) c.3822T>A (p.His1274Gln) c.3753T>A (p.His1251Gln) c.3621T>A (p.His1207Gln) c.3489T>A (p.His1163Gln) | dbSNP |
20 | g.32436354T>C | CA510467376 | ASXL1 | c.3642T>C (p.His1214=) c.3459T>C (p.His1153=) n.5995T>C c.1869+1773T>C (n.1869+1773T>C) c.3627T>C (p.His1209=) c.3639T>C (p.His1213=) c.3612T>C (p.His1204=) c.3558T>C (p.His1186=) c.2958T>C (p.His986=) c.3906T>C (p.His1302=) c.3903T>C (p.His1301=) c.3822T>C (p.His1274=) c.3753T>C (p.His1251=) c.3621T>C (p.His1207=) c.3489T>C (p.His1163=) | |
20 | g.32436354T>G | CA408563491 | ASXL1 | c.3642T>G (p.His1214Gln) c.3459T>G (p.His1153Gln) n.5995T>G c.1869+1773T>G (n.1869+1773T>G) c.3627T>G (p.His1209Gln) c.3639T>G (p.His1213Gln) c.3612T>G (p.His1204Gln) c.3558T>G (p.His1186Gln) c.2958T>G (p.His986Gln) c.3906T>G (p.His1302Gln) c.3903T>G (p.His1301Gln) c.3822T>G (p.His1274Gln) c.3753T>G (p.His1251Gln) c.3621T>G (p.His1207Gln) c.3489T>G (p.His1163Gln) | |
20 | g.32436354T= | CA2360293663 | ASXL1 | c.3642T= (p.His1214=) c.3459T= (p.His1153=) n.5995T= c.1869+1773T= (n.1869+1773T=) c.3627T= (p.His1209=) c.3639T= (p.His1213=) c.3612T= (p.His1204=) c.3558T= (p.His1186=) c.2958T= (p.His986=) c.3906T= (p.His1302=) c.3903T= (p.His1301=) c.3822T= (p.His1274=) c.3753T= (p.His1251=) c.3621T= (p.His1207=) c.3489T= (p.His1163=) | |
20 | g.32436355C>A | CA408563493 | ASXL1 | c.3643C>A (p.Pro1215Thr) c.3460C>A (p.Pro1154Thr) n.5996C>A c.1869+1774C>A (n.1869+1774C>A) c.3628C>A (p.Pro1210Thr) c.3640C>A (p.Pro1214Thr) c.3613C>A (p.Pro1205Thr) c.3559C>A (p.Pro1187Thr) c.2959C>A (p.Pro987Thr) c.3907C>A (p.Pro1303Thr) c.3904C>A (p.Pro1302Thr) c.3823C>A (p.Pro1275Thr) c.3754C>A (p.Pro1252Thr) c.3622C>A (p.Pro1208Thr) c.3490C>A (p.Pro1164Thr) | |
20 | g.32436355C>G | CA408563494 | ASXL1 | c.3643C>G (p.Pro1215Ala) c.3460C>G (p.Pro1154Ala) n.5996C>G c.1869+1774C>G (n.1869+1774C>G) c.3628C>G (p.Pro1210Ala) c.3640C>G (p.Pro1214Ala) c.3613C>G (p.Pro1205Ala) c.3559C>G (p.Pro1187Ala) c.2959C>G (p.Pro987Ala) c.3907C>G (p.Pro1303Ala) c.3904C>G (p.Pro1302Ala) c.3823C>G (p.Pro1275Ala) c.3754C>G (p.Pro1252Ala) c.3622C>G (p.Pro1208Ala) c.3490C>G (p.Pro1164Ala) | dbSNP |
20 | g.32436355C>T | CA408563495 | ASXL1 | c.3643C>T (p.Pro1215Ser) c.3460C>T (p.Pro1154Ser) n.5996C>T c.1869+1774C>T (n.1869+1774C>T) c.3628C>T (p.Pro1210Ser) c.3640C>T (p.Pro1214Ser) c.3613C>T (p.Pro1205Ser) c.3559C>T (p.Pro1187Ser) c.2959C>T (p.Pro987Ser) c.3907C>T (p.Pro1303Ser) c.3904C>T (p.Pro1302Ser) c.3823C>T (p.Pro1275Ser) c.3754C>T (p.Pro1252Ser) c.3622C>T (p.Pro1208Ser) c.3490C>T (p.Pro1164Ser) | dbSNP gnomAD v4 |
20 | g.32436356C>A | CA408563496 | ASXL1 | c.3644C>A (p.Pro1215Gln) c.3461C>A (p.Pro1154Gln) n.5997C>A c.1869+1775C>A (n.1869+1775C>A) c.3629C>A (p.Pro1210Gln) c.3641C>A (p.Pro1214Gln) c.3614C>A (p.Pro1205Gln) c.3560C>A (p.Pro1187Gln) c.2960C>A (p.Pro987Gln) c.3908C>A (p.Pro1303Gln) c.3905C>A (p.Pro1302Gln) c.3824C>A (p.Pro1275Gln) c.3755C>A (p.Pro1252Gln) c.3623C>A (p.Pro1208Gln) c.3491C>A (p.Pro1164Gln) | |
20 | g.32436356C>G | CA408563497 | ASXL1 | c.3644C>G (p.Pro1215Arg) c.3461C>G (p.Pro1154Arg) n.5997C>G c.1869+1775C>G (n.1869+1775C>G) c.3629C>G (p.Pro1210Arg) c.3641C>G (p.Pro1214Arg) c.3614C>G (p.Pro1205Arg) c.3560C>G (p.Pro1187Arg) c.2960C>G (p.Pro987Arg) c.3908C>G (p.Pro1303Arg) c.3905C>G (p.Pro1302Arg) c.3824C>G (p.Pro1275Arg) c.3755C>G (p.Pro1252Arg) c.3623C>G (p.Pro1208Arg) c.3491C>G (p.Pro1164Arg) | |
20 | g.32436356C>T | CA408563498 | ASXL1 | c.3644C>T (p.Pro1215Leu) c.3461C>T (p.Pro1154Leu) n.5997C>T c.1869+1775C>T (n.1869+1775C>T) c.3629C>T (p.Pro1210Leu) c.3641C>T (p.Pro1214Leu) c.3614C>T (p.Pro1205Leu) c.3560C>T (p.Pro1187Leu) c.2960C>T (p.Pro987Leu) c.3908C>T (p.Pro1303Leu) c.3905C>T (p.Pro1302Leu) c.3824C>T (p.Pro1275Leu) c.3755C>T (p.Pro1252Leu) c.3623C>T (p.Pro1208Leu) c.3491C>T (p.Pro1164Leu) | |
20 | g.32436357A>C | CA510467377 | ASXL1 | c.3645A>C (p.Pro1215=) c.3462A>C (p.Pro1154=) n.5998A>C c.1869+1776A>C (n.1869+1776A>C) c.3630A>C (p.Pro1210=) c.3642A>C (p.Pro1214=) c.3615A>C (p.Pro1205=) c.3561A>C (p.Pro1187=) c.2961A>C (p.Pro987=) c.3909A>C (p.Pro1303=) c.3906A>C (p.Pro1302=) c.3825A>C (p.Pro1275=) c.3756A>C (p.Pro1252=) c.3624A>C (p.Pro1208=) c.3492A>C (p.Pro1164=) | |
20 | g.32436357A>G | CA510467378 | ASXL1 | c.3645A>G (p.Pro1215=) c.3462A>G (p.Pro1154=) n.5998A>G c.1869+1776A>G (n.1869+1776A>G) c.3630A>G (p.Pro1210=) c.3642A>G (p.Pro1214=) c.3615A>G (p.Pro1205=) c.3561A>G (p.Pro1187=) c.2961A>G (p.Pro987=) c.3909A>G (p.Pro1303=) c.3906A>G (p.Pro1302=) c.3825A>G (p.Pro1275=) c.3756A>G (p.Pro1252=) c.3624A>G (p.Pro1208=) c.3492A>G (p.Pro1164=) | gnomAD v4 |
20 | g.32436357A>T | CA510467379 | ASXL1 | c.3645A>T (p.Pro1215=) c.3462A>T (p.Pro1154=) n.5998A>T c.1869+1776A>T (n.1869+1776A>T) c.3630A>T (p.Pro1210=) c.3642A>T (p.Pro1214=) c.3615A>T (p.Pro1205=) c.3561A>T (p.Pro1187=) c.2961A>T (p.Pro987=) c.3909A>T (p.Pro1303=) c.3906A>T (p.Pro1302=) c.3825A>T (p.Pro1275=) c.3756A>T (p.Pro1252=) c.3624A>T (p.Pro1208=) c.3492A>T (p.Pro1164=) | |
20 | g.32436358G>A | CA408563499 | ASXL1 | c.3646G>A (p.Val1216Met) c.3463G>A (p.Val1155Met) n.5999G>A c.1869+1777G>A (n.1869+1777G>A) c.3631G>A (p.Val1211Met) c.3643G>A (p.Val1215Met) c.3616G>A (p.Val1206Met) c.3562G>A (p.Val1188Met) c.2962G>A (p.Val988Met) c.3910G>A (p.Val1304Met) c.3907G>A (p.Val1303Met) c.3826G>A (p.Val1276Met) c.3757G>A (p.Val1253Met) c.3625G>A (p.Val1209Met) c.3493G>A (p.Val1165Met) | gnomAD v4 |
20 | g.32436358G>C | CA9808868 | ASXL1 | c.3646G>C (p.Val1216Leu) c.3463G>C (p.Val1155Leu) n.5999G>C c.1869+1777G>C (n.1869+1777G>C) c.3631G>C (p.Val1211Leu) c.3643G>C (p.Val1215Leu) c.3616G>C (p.Val1206Leu) c.3562G>C (p.Val1188Leu) c.2962G>C (p.Val988Leu) c.3910G>C (p.Val1304Leu) c.3907G>C (p.Val1303Leu) c.3826G>C (p.Val1276Leu) c.3757G>C (p.Val1253Leu) c.3625G>C (p.Val1209Leu) c.3493G>C (p.Val1165Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436358G= | CA2360293664 | ASXL1 | c.3646G= (p.Val1216=) c.3463G= (p.Val1155=) n.5999G= c.1869+1777G= (n.1869+1777G=) c.3631G= (p.Val1211=) c.3643G= (p.Val1215=) c.3616G= (p.Val1206=) c.3562G= (p.Val1188=) c.2962G= (p.Val988=) c.3910G= (p.Val1304=) c.3907G= (p.Val1303=) c.3826G= (p.Val1276=) c.3757G= (p.Val1253=) c.3625G= (p.Val1209=) c.3493G= (p.Val1165=) | |
20 | g.32436358G>T | CA408563500 | ASXL1 | c.3646G>T (p.Val1216Leu) c.3463G>T (p.Val1155Leu) n.5999G>T c.1869+1777G>T (n.1869+1777G>T) c.3631G>T (p.Val1211Leu) c.3643G>T (p.Val1215Leu) c.3616G>T (p.Val1206Leu) c.3562G>T (p.Val1188Leu) c.2962G>T (p.Val988Leu) c.3910G>T (p.Val1304Leu) c.3907G>T (p.Val1303Leu) c.3826G>T (p.Val1276Leu) c.3757G>T (p.Val1253Leu) c.3625G>T (p.Val1209Leu) c.3493G>T (p.Val1165Leu) | |
20 | g.32436359T>A | CA408563501 | ASXL1 | c.3647T>A (p.Val1216Glu) c.3464T>A (p.Val1155Glu) n.6000T>A c.1869+1778T>A (n.1869+1778T>A) c.3632T>A (p.Val1211Glu) c.3644T>A (p.Val1215Glu) c.3617T>A (p.Val1206Glu) c.3563T>A (p.Val1188Glu) c.2963T>A (p.Val988Glu) c.3911T>A (p.Val1304Glu) c.3908T>A (p.Val1303Glu) c.3827T>A (p.Val1276Glu) c.3758T>A (p.Val1253Glu) c.3626T>A (p.Val1209Glu) c.3494T>A (p.Val1165Glu) | |
20 | g.32436359T>C | CA408563502 | ASXL1 | c.3647T>C (p.Val1216Ala) c.3464T>C (p.Val1155Ala) n.6000T>C c.1869+1778T>C (n.1869+1778T>C) c.3632T>C (p.Val1211Ala) c.3644T>C (p.Val1215Ala) c.3617T>C (p.Val1206Ala) c.3563T>C (p.Val1188Ala) c.2963T>C (p.Val988Ala) c.3911T>C (p.Val1304Ala) c.3908T>C (p.Val1303Ala) c.3827T>C (p.Val1276Ala) c.3758T>C (p.Val1253Ala) c.3626T>C (p.Val1209Ala) c.3494T>C (p.Val1165Ala) | |
20 | g.32436359T>G | CA408563503 | ASXL1 | c.3647T>G (p.Val1216Gly) c.3464T>G (p.Val1155Gly) n.6000T>G c.1869+1778T>G (n.1869+1778T>G) c.3632T>G (p.Val1211Gly) c.3644T>G (p.Val1215Gly) c.3617T>G (p.Val1206Gly) c.3563T>G (p.Val1188Gly) c.2963T>G (p.Val988Gly) c.3911T>G (p.Val1304Gly) c.3908T>G (p.Val1303Gly) c.3827T>G (p.Val1276Gly) c.3758T>G (p.Val1253Gly) c.3626T>G (p.Val1209Gly) c.3494T>G (p.Val1165Gly) | |
20 | g.32436360G>A | CA510467382 | ASXL1 | c.3648G>A (p.Val1216=) c.3465G>A (p.Val1155=) n.6001G>A c.1869+1779G>A (n.1869+1779G>A) c.3633G>A (p.Val1211=) c.3645G>A (p.Val1215=) c.3618G>A (p.Val1206=) c.3564G>A (p.Val1188=) c.2964G>A (p.Val988=) c.3912G>A (p.Val1304=) c.3909G>A (p.Val1303=) c.3828G>A (p.Val1276=) c.3759G>A (p.Val1253=) c.3627G>A (p.Val1209=) c.3495G>A (p.Val1165=) | |
20 | g.32436360G>C | CA510467384 | ASXL1 | c.3648G>C (p.Val1216=) c.3465G>C (p.Val1155=) n.6001G>C c.1869+1779G>C (n.1869+1779G>C) c.3633G>C (p.Val1211=) c.3645G>C (p.Val1215=) c.3618G>C (p.Val1206=) c.3564G>C (p.Val1188=) c.2964G>C (p.Val988=) c.3912G>C (p.Val1304=) c.3909G>C (p.Val1303=) c.3828G>C (p.Val1276=) c.3759G>C (p.Val1253=) c.3627G>C (p.Val1209=) c.3495G>C (p.Val1165=) | dbSNP |
20 | g.32436360G>T | CA510467385 | ASXL1 | c.3648G>T (p.Val1216=) c.3465G>T (p.Val1155=) n.6001G>T c.1869+1779G>T (n.1869+1779G>T) c.3633G>T (p.Val1211=) c.3645G>T (p.Val1215=) c.3618G>T (p.Val1206=) c.3564G>T (p.Val1188=) c.2964G>T (p.Val988=) c.3912G>T (p.Val1304=) c.3909G>T (p.Val1303=) c.3828G>T (p.Val1276=) c.3759G>T (p.Val1253=) c.3627G>T (p.Val1209=) c.3495G>T (p.Val1165=) | |
20 | g.32436361A>C | CA408563504 | ASXL1 | c.3649A>C (p.Thr1217Pro) c.3466A>C (p.Thr1156Pro) n.6002A>C c.1869+1780A>C (n.1869+1780A>C) c.3634A>C (p.Thr1212Pro) c.3646A>C (p.Thr1216Pro) c.3619A>C (p.Thr1207Pro) c.3565A>C (p.Thr1189Pro) c.2965A>C (p.Thr989Pro) c.3913A>C (p.Thr1305Pro) c.3910A>C (p.Thr1304Pro) c.3829A>C (p.Thr1277Pro) c.3760A>C (p.Thr1254Pro) c.3628A>C (p.Thr1210Pro) c.3496A>C (p.Thr1166Pro) | |
20 | g.32436361A>G | CA408563505 | ASXL1 | c.3649A>G (p.Thr1217Ala) c.3466A>G (p.Thr1156Ala) n.6002A>G c.1869+1780A>G (n.1869+1780A>G) c.3634A>G (p.Thr1212Ala) c.3646A>G (p.Thr1216Ala) c.3619A>G (p.Thr1207Ala) c.3565A>G (p.Thr1189Ala) c.2965A>G (p.Thr989Ala) c.3913A>G (p.Thr1305Ala) c.3910A>G (p.Thr1304Ala) c.3829A>G (p.Thr1277Ala) c.3760A>G (p.Thr1254Ala) c.3628A>G (p.Thr1210Ala) c.3496A>G (p.Thr1166Ala) | gnomAD v4 |
20 | g.32436361A>T | CA408563506 | ASXL1 | c.3649A>T (p.Thr1217Ser) c.3466A>T (p.Thr1156Ser) n.6002A>T c.1869+1780A>T (n.1869+1780A>T) c.3634A>T (p.Thr1212Ser) c.3646A>T (p.Thr1216Ser) c.3619A>T (p.Thr1207Ser) c.3565A>T (p.Thr1189Ser) c.2965A>T (p.Thr989Ser) c.3913A>T (p.Thr1305Ser) c.3910A>T (p.Thr1304Ser) c.3829A>T (p.Thr1277Ser) c.3760A>T (p.Thr1254Ser) c.3628A>T (p.Thr1210Ser) c.3496A>T (p.Thr1166Ser) | |
20 | g.32436362C>A | CA408563507 | ASXL1 | c.3650C>A (p.Thr1217Lys) c.3467C>A (p.Thr1156Lys) n.6003C>A c.1869+1781C>A (n.1869+1781C>A) c.3635C>A (p.Thr1212Lys) c.3647C>A (p.Thr1216Lys) c.3620C>A (p.Thr1207Lys) c.3566C>A (p.Thr1189Lys) c.2966C>A (p.Thr989Lys) c.3914C>A (p.Thr1305Lys) c.3911C>A (p.Thr1304Lys) c.3830C>A (p.Thr1277Lys) c.3761C>A (p.Thr1254Lys) c.3629C>A (p.Thr1210Lys) c.3497C>A (p.Thr1166Lys) | |
20 | g.32436362C= | CA2360293665 | ASXL1 | c.3650C= (p.Thr1217=) c.3467C= (p.Thr1156=) n.6003C= c.1869+1781C= (n.1869+1781C=) c.3635C= (p.Thr1212=) c.3647C= (p.Thr1216=) c.3620C= (p.Thr1207=) c.3566C= (p.Thr1189=) c.2966C= (p.Thr989=) c.3914C= (p.Thr1305=) c.3911C= (p.Thr1304=) c.3830C= (p.Thr1277=) c.3761C= (p.Thr1254=) c.3629C= (p.Thr1210=) c.3497C= (p.Thr1166=) | |
20 | g.32436362C>G | CA408563508 | ASXL1 | c.3650C>G (p.Thr1217Arg) c.3467C>G (p.Thr1156Arg) n.6003C>G c.1869+1781C>G (n.1869+1781C>G) c.3635C>G (p.Thr1212Arg) c.3647C>G (p.Thr1216Arg) c.3620C>G (p.Thr1207Arg) c.3566C>G (p.Thr1189Arg) c.2966C>G (p.Thr989Arg) c.3914C>G (p.Thr1305Arg) c.3911C>G (p.Thr1304Arg) c.3830C>G (p.Thr1277Arg) c.3761C>G (p.Thr1254Arg) c.3629C>G (p.Thr1210Arg) c.3497C>G (p.Thr1166Arg) | |
20 | g.32436362C>T | CA408563509 | ASXL1 | c.3650C>T (p.Thr1217Ile) c.3467C>T (p.Thr1156Ile) n.6003C>T c.1869+1781C>T (n.1869+1781C>T) c.3635C>T (p.Thr1212Ile) c.3647C>T (p.Thr1216Ile) c.3620C>T (p.Thr1207Ile) c.3566C>T (p.Thr1189Ile) c.2966C>T (p.Thr989Ile) c.3914C>T (p.Thr1305Ile) c.3911C>T (p.Thr1304Ile) c.3830C>T (p.Thr1277Ile) c.3761C>T (p.Thr1254Ile) c.3629C>T (p.Thr1210Ile) c.3497C>T (p.Thr1166Ile) | |
20 | g.32436363A>C | CA510467391 | ASXL1 | c.3651A>C (p.Thr1217=) c.3468A>C (p.Thr1156=) n.6004A>C c.1869+1782A>C (n.1869+1782A>C) c.3636A>C (p.Thr1212=) c.3648A>C (p.Thr1216=) c.3621A>C (p.Thr1207=) c.3567A>C (p.Thr1189=) c.2967A>C (p.Thr989=) c.3915A>C (p.Thr1305=) c.3912A>C (p.Thr1304=) c.3831A>C (p.Thr1277=) c.3762A>C (p.Thr1254=) c.3630A>C (p.Thr1210=) c.3498A>C (p.Thr1166=) | |
20 | g.32436363A>G | CA510467389 | ASXL1 | c.3651A>G (p.Thr1217=) c.3468A>G (p.Thr1156=) n.6004A>G c.1869+1782A>G (n.1869+1782A>G) c.3636A>G (p.Thr1212=) c.3648A>G (p.Thr1216=) c.3621A>G (p.Thr1207=) c.3567A>G (p.Thr1189=) c.2967A>G (p.Thr989=) c.3915A>G (p.Thr1305=) c.3912A>G (p.Thr1304=) c.3831A>G (p.Thr1277=) c.3762A>G (p.Thr1254=) c.3630A>G (p.Thr1210=) c.3498A>G (p.Thr1166=) | |
20 | g.32436363A>T | CA510467387 | ASXL1 | c.3651A>T (p.Thr1217=) c.3468A>T (p.Thr1156=) n.6004A>T c.1869+1782A>T (n.1869+1782A>T) c.3636A>T (p.Thr1212=) c.3648A>T (p.Thr1216=) c.3621A>T (p.Thr1207=) c.3567A>T (p.Thr1189=) c.2967A>T (p.Thr989=) c.3915A>T (p.Thr1305=) c.3912A>T (p.Thr1304=) c.3831A>T (p.Thr1277=) c.3762A>T (p.Thr1254=) c.3630A>T (p.Thr1210=) c.3498A>T (p.Thr1166=) | |
20 | g.32436364_32436365dup | CA9808869 | ASXL1 | c.3652_3653dup (p.Asn1218LysfsTer?) c.3469_3470dup (p.Asn1157LysfsTer?) n.6005_6006dup c.1869+1783_1869+1784dup (n.1869+1783_1869+1784dup) c.3637_3638dup (p.Asn1213LysfsTer?) c.3649_3650dup (p.Asn1217LysfsTer?) c.3622_3623dup (p.Asn1208LysfsTer?) c.3568_3569dup (p.Asn1190LysfsTer?) c.2968_2969dup (p.Asn990LysfsTer?) c.3916_3917dup (p.Asn1306LysfsTer?) c.3913_3914dup (p.Asn1305LysfsTer?) c.3832_3833dup (p.Asn1278LysfsTer?) c.3763_3764dup (p.Asn1255LysfsTer?) c.3631_3632dup (p.Asn1211LysfsTer?) c.3499_3500dup (p.Asn1167LysfsTer?) | dbSNP ExAC gnomAD v2 |
20 | g.32436364_32436365del | CA2695229724 | ASXL1 | c.3652_3653del (p.Asn1218SerfsTer6) c.3469_3470del (p.Asn1157SerfsTer6) n.6005_6006del c.1869+1783_1869+1784del (n.1869+1783_1869+1784del) c.3637_3638del (p.Asn1213SerfsTer6) c.3649_3650del (p.Asn1217SerfsTer6) c.3622_3623del (p.Asn1208SerfsTer6) c.3568_3569del (p.Asn1190SerfsTer6) c.2968_2969del (p.Asn990SerfsTer6) c.3916_3917del (p.Asn1306SerfsTer6) c.3913_3914del (p.Asn1305SerfsTer6) c.3832_3833del (p.Asn1278SerfsTer6) c.3763_3764del (p.Asn1255SerfsTer6) c.3631_3632del (p.Asn1211SerfsTer6) c.3499_3500del (p.Asn1167SerfsTer6) | |
20 | g.32436364A>C | CA408563512 | ASXL1 | c.3652A>C (p.Asn1218His) c.3469A>C (p.Asn1157His) n.6005A>C c.1869+1783A>C (n.1869+1783A>C) c.3637A>C (p.Asn1213His) c.3649A>C (p.Asn1217His) c.3622A>C (p.Asn1208His) c.3568A>C (p.Asn1190His) c.2968A>C (p.Asn990His) c.3916A>C (p.Asn1306His) c.3913A>C (p.Asn1305His) c.3832A>C (p.Asn1278His) c.3763A>C (p.Asn1255His) c.3631A>C (p.Asn1211His) c.3499A>C (p.Asn1167His) | |
20 | g.32436364A>G | CA408563511 | ASXL1 | c.3652A>G (p.Asn1218Asp) c.3469A>G (p.Asn1157Asp) n.6005A>G c.1869+1783A>G (n.1869+1783A>G) c.3637A>G (p.Asn1213Asp) c.3649A>G (p.Asn1217Asp) c.3622A>G (p.Asn1208Asp) c.3568A>G (p.Asn1190Asp) c.2968A>G (p.Asn990Asp) c.3916A>G (p.Asn1306Asp) c.3913A>G (p.Asn1305Asp) c.3832A>G (p.Asn1278Asp) c.3763A>G (p.Asn1255Asp) c.3631A>G (p.Asn1211Asp) c.3499A>G (p.Asn1167Asp) | |
20 | g.32436364A>T | CA408563510 | ASXL1 | c.3652A>T (p.Asn1218Tyr) c.3469A>T (p.Asn1157Tyr) n.6005A>T c.1869+1783A>T (n.1869+1783A>T) c.3637A>T (p.Asn1213Tyr) c.3649A>T (p.Asn1217Tyr) c.3622A>T (p.Asn1208Tyr) c.3568A>T (p.Asn1190Tyr) c.2968A>T (p.Asn990Tyr) c.3916A>T (p.Asn1306Tyr) c.3913A>T (p.Asn1305Tyr) c.3832A>T (p.Asn1278Tyr) c.3763A>T (p.Asn1255Tyr) c.3631A>T (p.Asn1211Tyr) c.3499A>T (p.Asn1167Tyr) | |
20 | g.32436365A>C | CA408563513 | ASXL1 | c.3653A>C (p.Asn1218Thr) c.3470A>C (p.Asn1157Thr) n.6006A>C c.1869+1784A>C (n.1869+1784A>C) c.3638A>C (p.Asn1213Thr) c.3650A>C (p.Asn1217Thr) c.3623A>C (p.Asn1208Thr) c.3569A>C (p.Asn1190Thr) c.2969A>C (p.Asn990Thr) c.3917A>C (p.Asn1306Thr) c.3914A>C (p.Asn1305Thr) c.3833A>C (p.Asn1278Thr) c.3764A>C (p.Asn1255Thr) c.3632A>C (p.Asn1211Thr) c.3500A>C (p.Asn1167Thr) | |
20 | g.32436365A>G | CA408563515 | ASXL1 | c.3653A>G (p.Asn1218Ser) c.3470A>G (p.Asn1157Ser) n.6006A>G c.1869+1784A>G (n.1869+1784A>G) c.3638A>G (p.Asn1213Ser) c.3650A>G (p.Asn1217Ser) c.3623A>G (p.Asn1208Ser) c.3569A>G (p.Asn1190Ser) c.2969A>G (p.Asn990Ser) c.3917A>G (p.Asn1306Ser) c.3914A>G (p.Asn1305Ser) c.3833A>G (p.Asn1278Ser) c.3764A>G (p.Asn1255Ser) c.3632A>G (p.Asn1211Ser) c.3500A>G (p.Asn1167Ser) | |
20 | g.32436365A>T | CA408563514 | ASXL1 | c.3653A>T (p.Asn1218Ile) c.3470A>T (p.Asn1157Ile) n.6006A>T c.1869+1784A>T (n.1869+1784A>T) c.3638A>T (p.Asn1213Ile) c.3650A>T (p.Asn1217Ile) c.3623A>T (p.Asn1208Ile) c.3569A>T (p.Asn1190Ile) c.2969A>T (p.Asn990Ile) c.3917A>T (p.Asn1306Ile) c.3914A>T (p.Asn1305Ile) c.3833A>T (p.Asn1278Ile) c.3764A>T (p.Asn1255Ile) c.3632A>T (p.Asn1211Ile) c.3500A>T (p.Asn1167Ile) | |
20 | g.32436366T>A | CA408563516 | ASXL1 | c.3654T>A (p.Asn1218Lys) c.3471T>A (p.Asn1157Lys) n.6007T>A c.1869+1785T>A (n.1869+1785T>A) c.3639T>A (p.Asn1213Lys) c.3651T>A (p.Asn1217Lys) c.3624T>A (p.Asn1208Lys) c.3570T>A (p.Asn1190Lys) c.2970T>A (p.Asn990Lys) c.3918T>A (p.Asn1306Lys) c.3915T>A (p.Asn1305Lys) c.3834T>A (p.Asn1278Lys) c.3765T>A (p.Asn1255Lys) c.3633T>A (p.Asn1211Lys) c.3501T>A (p.Asn1167Lys) | |
20 | g.32436366T>C | CA510467393 | ASXL1 | c.3654T>C (p.Asn1218=) c.3471T>C (p.Asn1157=) n.6007T>C c.1869+1785T>C (n.1869+1785T>C) c.3639T>C (p.Asn1213=) c.3651T>C (p.Asn1217=) c.3624T>C (p.Asn1208=) c.3570T>C (p.Asn1190=) c.2970T>C (p.Asn990=) c.3918T>C (p.Asn1306=) c.3915T>C (p.Asn1305=) c.3834T>C (p.Asn1278=) c.3765T>C (p.Asn1255=) c.3633T>C (p.Asn1211=) c.3501T>C (p.Asn1167=) | |
20 | g.32436366T>G | CA408563517 | ASXL1 | c.3654T>G (p.Asn1218Lys) c.3471T>G (p.Asn1157Lys) n.6007T>G c.1869+1785T>G (n.1869+1785T>G) c.3639T>G (p.Asn1213Lys) c.3651T>G (p.Asn1217Lys) c.3624T>G (p.Asn1208Lys) c.3570T>G (p.Asn1190Lys) c.2970T>G (p.Asn990Lys) c.3918T>G (p.Asn1306Lys) c.3915T>G (p.Asn1305Lys) c.3834T>G (p.Asn1278Lys) c.3765T>G (p.Asn1255Lys) c.3633T>G (p.Asn1211Lys) c.3501T>G (p.Asn1167Lys) |