Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.25742388A>CCA346075062ASXL2c.3946T>G (p.Tyr1316Asp)
c.3949T>G (p.Tyr1317Asp)
c.3865T>G (p.Tyr1289Asp)
c.2398T>G (p.Tyr800Asp)
c.3583T>G (p.Tyr1195Asp)
c.3169T>G (p.Tyr1057Asp)
c.3775T>G (p.Tyr1259Asp)
c.4129T>G (p.Tyr1377Asp)
2g.25742388A>GCA346075063ASXL2c.3946T>C (p.Tyr1316His)
c.3949T>C (p.Tyr1317His)
c.3865T>C (p.Tyr1289His)
c.2398T>C (p.Tyr800His)
c.3583T>C (p.Tyr1195His)
c.3169T>C (p.Tyr1057His)
c.3775T>C (p.Tyr1259His)
c.4129T>C (p.Tyr1377His)
2g.25742388A>TCA346075064ASXL2c.3946T>A (p.Tyr1316Asn)
c.3949T>A (p.Tyr1317Asn)
c.3865T>A (p.Tyr1289Asn)
c.2398T>A (p.Tyr800Asn)
c.3583T>A (p.Tyr1195Asn)
c.3169T>A (p.Tyr1057Asn)
c.3775T>A (p.Tyr1259Asn)
c.4129T>A (p.Tyr1377Asn)
2g.25742389C>ACA346075066ASXL2c.3945G>T (p.Leu1315Phe)
c.3948G>T (p.Leu1316Phe)
c.3864G>T (p.Leu1288Phe)
c.2397G>T (p.Leu799Phe)
c.3582G>T (p.Leu1194Phe)
c.3168G>T (p.Leu1056Phe)
c.3774G>T (p.Leu1258Phe)
c.4128G>T (p.Leu1376Phe)
gnomAD v4
2g.25742389C=CA1239490440ASXL2c.3945G= (p.Leu1315=)
c.3948G= (p.Leu1316=)
c.3864G= (p.Leu1288=)
c.2397G= (p.Leu799=)
c.3582G= (p.Leu1194=)
c.3168G= (p.Leu1056=)
c.3774G= (p.Leu1258=)
c.4128G= (p.Leu1376=)
2g.25742389C>GCA346075069ASXL2c.3945G>C (p.Leu1315Phe)
c.3948G>C (p.Leu1316Phe)
c.3864G>C (p.Leu1288Phe)
c.2397G>C (p.Leu799Phe)
c.3582G>C (p.Leu1194Phe)
c.3168G>C (p.Leu1056Phe)
c.3774G>C (p.Leu1258Phe)
c.4128G>C (p.Leu1376Phe)
gnomAD v4
2g.25742389C>TCA43734255ASXL2c.3945G>A (p.Leu1315=)
c.3948G>A (p.Leu1316=)
c.3864G>A (p.Leu1288=)
c.2397G>A (p.Leu799=)
c.3582G>A (p.Leu1194=)
c.3168G>A (p.Leu1056=)
c.3774G>A (p.Leu1258=)
c.4128G>A (p.Leu1376=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742390A>CCA346075074ASXL2c.3944T>G (p.Leu1315Trp)
c.3947T>G (p.Leu1316Trp)
c.3863T>G (p.Leu1288Trp)
c.2396T>G (p.Leu799Trp)
c.3581T>G (p.Leu1194Trp)
c.3167T>G (p.Leu1056Trp)
c.3773T>G (p.Leu1258Trp)
c.4127T>G (p.Leu1376Trp)
2g.25742390A>GCA346075082ASXL2c.3944T>C (p.Leu1315Ser)
c.3947T>C (p.Leu1316Ser)
c.3863T>C (p.Leu1288Ser)
c.2396T>C (p.Leu799Ser)
c.3581T>C (p.Leu1194Ser)
c.3167T>C (p.Leu1056Ser)
c.3773T>C (p.Leu1258Ser)
c.4127T>C (p.Leu1376Ser)
2g.25742390A>TCA346075078ASXL2c.3944T>A (p.Leu1315Ter)
c.3947T>A (p.Leu1316Ter)
c.3863T>A (p.Leu1288Ter)
c.2396T>A (p.Leu799Ter)
c.3581T>A (p.Leu1194Ter)
c.3167T>A (p.Leu1056Ter)
c.3773T>A (p.Leu1258Ter)
c.4127T>A (p.Leu1376Ter)
2g.25742391A=CA1239490441ASXL2c.3943T= (p.Leu1315=)
c.3946T= (p.Leu1316=)
c.3862T= (p.Leu1288=)
c.2395T= (p.Leu799=)
c.3580T= (p.Leu1194=)
c.3166T= (p.Leu1056=)
c.3772T= (p.Leu1258=)
c.4126T= (p.Leu1376=)
2g.25742391A>CCA346075085ASXL2c.3943T>G (p.Leu1315Val)
c.3946T>G (p.Leu1316Val)
c.3862T>G (p.Leu1288Val)
c.2395T>G (p.Leu799Val)
c.3580T>G (p.Leu1194Val)
c.3166T>G (p.Leu1056Val)
c.3772T>G (p.Leu1258Val)
c.4126T>G (p.Leu1376Val)
2g.25742391A>GCA425354758ASXL2c.3943T>C (p.Leu1315=)
c.3946T>C (p.Leu1316=)
c.3862T>C (p.Leu1288=)
c.2395T>C (p.Leu799=)
c.3580T>C (p.Leu1194=)
c.3166T>C (p.Leu1056=)
c.3772T>C (p.Leu1258=)
c.4126T>C (p.Leu1376=)
2g.25742391A>TCA346075086ASXL2c.3943T>A (p.Leu1315Met)
c.3946T>A (p.Leu1316Met)
c.3862T>A (p.Leu1288Met)
c.2395T>A (p.Leu799Met)
c.3580T>A (p.Leu1194Met)
c.3166T>A (p.Leu1056Met)
c.3772T>A (p.Leu1258Met)
c.4126T>A (p.Leu1376Met)
dbSNP
2g.25742392C>ACA346075088ASXL2c.3942G>T (p.Lys1314Asn)
c.3945G>T (p.Lys1315Asn)
c.3861G>T (p.Lys1287Asn)
c.2394G>T (p.Lys798Asn)
c.3579G>T (p.Lys1193Asn)
c.3165G>T (p.Lys1055Asn)
c.3771G>T (p.Lys1257Asn)
c.4125G>T (p.Lys1375Asn)
2g.25742392C>GCA346075090ASXL2c.3942G>C (p.Lys1314Asn)
c.3945G>C (p.Lys1315Asn)
c.3861G>C (p.Lys1287Asn)
c.2394G>C (p.Lys798Asn)
c.3579G>C (p.Lys1193Asn)
c.3165G>C (p.Lys1055Asn)
c.3771G>C (p.Lys1257Asn)
c.4125G>C (p.Lys1375Asn)
2g.25742392C>TCA425354761ASXL2c.3942G>A (p.Lys1314=)
c.3945G>A (p.Lys1315=)
c.3861G>A (p.Lys1287=)
c.2394G>A (p.Lys798=)
c.3579G>A (p.Lys1193=)
c.3165G>A (p.Lys1055=)
c.3771G>A (p.Lys1257=)
c.4125G>A (p.Lys1375=)
2g.25742393T>ACA346075095ASXL2c.3941A>T (p.Lys1314Met)
c.3944A>T (p.Lys1315Met)
c.3860A>T (p.Lys1287Met)
c.2393A>T (p.Lys798Met)
c.3578A>T (p.Lys1193Met)
c.3164A>T (p.Lys1055Met)
c.3770A>T (p.Lys1257Met)
c.4124A>T (p.Lys1375Met)
2g.25742393T>CCA346075097ASXL2c.3941A>G (p.Lys1314Arg)
c.3944A>G (p.Lys1315Arg)
c.3860A>G (p.Lys1287Arg)
c.2393A>G (p.Lys798Arg)
c.3578A>G (p.Lys1193Arg)
c.3164A>G (p.Lys1055Arg)
c.3770A>G (p.Lys1257Arg)
c.4124A>G (p.Lys1375Arg)
COSMIC COSMIC
2g.25742393T>GCA346075099ASXL2c.3941A>C (p.Lys1314Thr)
c.3944A>C (p.Lys1315Thr)
c.3860A>C (p.Lys1287Thr)
c.2393A>C (p.Lys798Thr)
c.3578A>C (p.Lys1193Thr)
c.3164A>C (p.Lys1055Thr)
c.3770A>C (p.Lys1257Thr)
c.4124A>C (p.Lys1375Thr)
2g.25742394T>ACA346075103ASXL2c.3940A>T (p.Lys1314Ter)
c.3943A>T (p.Lys1315Ter)
c.3859A>T (p.Lys1287Ter)
c.2392A>T (p.Lys798Ter)
c.3577A>T (p.Lys1193Ter)
c.3163A>T (p.Lys1055Ter)
c.3769A>T (p.Lys1257Ter)
c.4123A>T (p.Lys1375Ter)
2g.25742394T>CCA346075106ASXL2c.3940A>G (p.Lys1314Glu)
c.3943A>G (p.Lys1315Glu)
c.3859A>G (p.Lys1287Glu)
c.2392A>G (p.Lys798Glu)
c.3577A>G (p.Lys1193Glu)
c.3163A>G (p.Lys1055Glu)
c.3769A>G (p.Lys1257Glu)
c.4123A>G (p.Lys1375Glu)
2g.25742394T>GCA346075108ASXL2c.3940A>C (p.Lys1314Gln)
c.3943A>C (p.Lys1315Gln)
c.3859A>C (p.Lys1287Gln)
c.2392A>C (p.Lys798Gln)
c.3577A>C (p.Lys1193Gln)
c.3163A>C (p.Lys1055Gln)
c.3769A>C (p.Lys1257Gln)
c.4123A>C (p.Lys1375Gln)
2g.25742395C>ACA425354768ASXL2c.3939G>T (p.Pro1313=)
c.3942G>T (p.Pro1314=)
c.3858G>T (p.Pro1286=)
c.2391G>T (p.Pro797=)
c.3576G>T (p.Pro1192=)
c.3162G>T (p.Pro1054=)
c.3768G>T (p.Pro1256=)
c.4122G>T (p.Pro1374=)
2g.25742395C=CA1239490442ASXL2c.3939G= (p.Pro1313=)
c.3942G= (p.Pro1314=)
c.3858G= (p.Pro1286=)
c.2391G= (p.Pro797=)
c.3576G= (p.Pro1192=)
c.3162G= (p.Pro1054=)
c.3768G= (p.Pro1256=)
c.4122G= (p.Pro1374=)
2g.25742395C>GCA425354766ASXL2c.3939G>C (p.Pro1313=)
c.3942G>C (p.Pro1314=)
c.3858G>C (p.Pro1286=)
c.2391G>C (p.Pro797=)
c.3576G>C (p.Pro1192=)
c.3162G>C (p.Pro1054=)
c.3768G>C (p.Pro1256=)
c.4122G>C (p.Pro1374=)
dbSNP gnomAD v4
2g.25742395C>TCA1557391ASXL2c.3939G>A (p.Pro1313=)
c.3942G>A (p.Pro1314=)
c.3858G>A (p.Pro1286=)
c.2391G>A (p.Pro797=)
c.3576G>A (p.Pro1192=)
c.3162G>A (p.Pro1054=)
c.3768G>A (p.Pro1256=)
c.4122G>A (p.Pro1374=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742396G>ACA1557393ASXL2c.3938C>T (p.Pro1313Leu)
c.3941C>T (p.Pro1314Leu)
c.3857C>T (p.Pro1286Leu)
c.2390C>T (p.Pro797Leu)
c.3575C>T (p.Pro1192Leu)
c.3161C>T (p.Pro1054Leu)
c.3767C>T (p.Pro1256Leu)
c.4121C>T (p.Pro1374Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742396G>CCA1557392ASXL2c.3938C>G (p.Pro1313Arg)
c.3941C>G (p.Pro1314Arg)
c.3857C>G (p.Pro1286Arg)
c.2390C>G (p.Pro797Arg)
c.3575C>G (p.Pro1192Arg)
c.3161C>G (p.Pro1054Arg)
c.3767C>G (p.Pro1256Arg)
c.4121C>G (p.Pro1374Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742396G=CA1239490443ASXL2c.3938C= (p.Pro1313=)
c.3941C= (p.Pro1314=)
c.3857C= (p.Pro1286=)
c.2390C= (p.Pro797=)
c.3575C= (p.Pro1192=)
c.3161C= (p.Pro1054=)
c.3767C= (p.Pro1256=)
c.4121C= (p.Pro1374=)
2g.25742396G>TCA346075115ASXL2c.3938C>A (p.Pro1313Gln)
c.3941C>A (p.Pro1314Gln)
c.3857C>A (p.Pro1286Gln)
c.2390C>A (p.Pro797Gln)
c.3575C>A (p.Pro1192Gln)
c.3161C>A (p.Pro1054Gln)
c.3767C>A (p.Pro1256Gln)
c.4121C>A (p.Pro1374Gln)
2g.25742397G>ACA346075120ASXL2c.3937C>T (p.Pro1313Ser)
c.3940C>T (p.Pro1314Ser)
c.3856C>T (p.Pro1286Ser)
c.2389C>T (p.Pro797Ser)
c.3574C>T (p.Pro1192Ser)
c.3160C>T (p.Pro1054Ser)
c.3766C>T (p.Pro1256Ser)
c.4120C>T (p.Pro1374Ser)
2g.25742397G>CCA346075122ASXL2c.3937C>G (p.Pro1313Ala)
c.3940C>G (p.Pro1314Ala)
c.3856C>G (p.Pro1286Ala)
c.2389C>G (p.Pro797Ala)
c.3574C>G (p.Pro1192Ala)
c.3160C>G (p.Pro1054Ala)
c.3766C>G (p.Pro1256Ala)
c.4120C>G (p.Pro1374Ala)
2g.25742397G=CA1239490444ASXL2c.3937C= (p.Pro1313=)
c.3940C= (p.Pro1314=)
c.3856C= (p.Pro1286=)
c.2389C= (p.Pro797=)
c.3574C= (p.Pro1192=)
c.3160C= (p.Pro1054=)
c.3766C= (p.Pro1256=)
c.4120C= (p.Pro1374=)
2g.25742397G>TCA1557394ASXL2c.3937C>A (p.Pro1313Thr)
c.3940C>A (p.Pro1314Thr)
c.3856C>A (p.Pro1286Thr)
c.2389C>A (p.Pro797Thr)
c.3574C>A (p.Pro1192Thr)
c.3160C>A (p.Pro1054Thr)
c.3766C>A (p.Pro1256Thr)
c.4120C>A (p.Pro1374Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742398G>ACA1557395ASXL2c.3936C>T (p.Thr1312=)
c.3939C>T (p.Thr1313=)
c.3855C>T (p.Thr1285=)
c.2388C>T (p.Thr796=)
c.3573C>T (p.Thr1191=)
c.3159C>T (p.Thr1053=)
c.3765C>T (p.Thr1255=)
c.4119C>T (p.Thr1373=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742398G>CCA425354775ASXL2c.3936C>G (p.Thr1312=)
c.3939C>G (p.Thr1313=)
c.3855C>G (p.Thr1285=)
c.2388C>G (p.Thr796=)
c.3573C>G (p.Thr1191=)
c.3159C>G (p.Thr1053=)
c.3765C>G (p.Thr1255=)
c.4119C>G (p.Thr1373=)
gnomAD v4
2g.25742398G=CA1239490445ASXL2c.3936C= (p.Thr1312=)
c.3939C= (p.Thr1313=)
c.3855C= (p.Thr1285=)
c.2388C= (p.Thr796=)
c.3573C= (p.Thr1191=)
c.3159C= (p.Thr1053=)
c.3765C= (p.Thr1255=)
c.4119C= (p.Thr1373=)
2g.25742398G>TCA425354777ASXL2c.3936C>A (p.Thr1312=)
c.3939C>A (p.Thr1313=)
c.3855C>A (p.Thr1285=)
c.2388C>A (p.Thr796=)
c.3573C>A (p.Thr1191=)
c.3159C>A (p.Thr1053=)
c.3765C>A (p.Thr1255=)
c.4119C>A (p.Thr1373=)
2g.25742399G>ACA346075132ASXL2c.3935C>T (p.Thr1312Ile)
c.3938C>T (p.Thr1313Ile)
c.3854C>T (p.Thr1285Ile)
c.2387C>T (p.Thr796Ile)
c.3572C>T (p.Thr1191Ile)
c.3158C>T (p.Thr1053Ile)
c.3764C>T (p.Thr1255Ile)
c.4118C>T (p.Thr1373Ile)
2g.25742399G>CCA346075135ASXL2c.3935C>G (p.Thr1312Ser)
c.3938C>G (p.Thr1313Ser)
c.3854C>G (p.Thr1285Ser)
c.2387C>G (p.Thr796Ser)
c.3572C>G (p.Thr1191Ser)
c.3158C>G (p.Thr1053Ser)
c.3764C>G (p.Thr1255Ser)
c.4118C>G (p.Thr1373Ser)
2g.25742399G>TCA346075138ASXL2c.3935C>A (p.Thr1312Asn)
c.3938C>A (p.Thr1313Asn)
c.3854C>A (p.Thr1285Asn)
c.2387C>A (p.Thr796Asn)
c.3572C>A (p.Thr1191Asn)
c.3158C>A (p.Thr1053Asn)
c.3764C>A (p.Thr1255Asn)
c.4118C>A (p.Thr1373Asn)
2g.25742400T>ACA346075141ASXL2c.3934A>T (p.Thr1312Ser)
c.3937A>T (p.Thr1313Ser)
c.3853A>T (p.Thr1285Ser)
c.2386A>T (p.Thr796Ser)
c.3571A>T (p.Thr1191Ser)
c.3157A>T (p.Thr1053Ser)
c.3763A>T (p.Thr1255Ser)
c.4117A>T (p.Thr1373Ser)
2g.25742400T>CCA346075144ASXL2c.3934A>G (p.Thr1312Ala)
c.3937A>G (p.Thr1313Ala)
c.3853A>G (p.Thr1285Ala)
c.2386A>G (p.Thr796Ala)
c.3571A>G (p.Thr1191Ala)
c.3157A>G (p.Thr1053Ala)
c.3763A>G (p.Thr1255Ala)
c.4117A>G (p.Thr1373Ala)
2g.25742400T>GCA346075147ASXL2c.3934A>C (p.Thr1312Pro)
c.3937A>C (p.Thr1313Pro)
c.3853A>C (p.Thr1285Pro)
c.2386A>C (p.Thr796Pro)
c.3571A>C (p.Thr1191Pro)
c.3157A>C (p.Thr1053Pro)
c.3763A>C (p.Thr1255Pro)
c.4117A>C (p.Thr1373Pro)
2g.25742401T>ACA346075151ASXL2c.3933A>T (p.Gln1311His)
c.3936A>T (p.Gln1312His)
c.3852A>T (p.Gln1284His)
c.2385A>T (p.Gln795His)
c.3570A>T (p.Gln1190His)
c.3156A>T (p.Gln1052His)
c.3762A>T (p.Gln1254His)
c.4116A>T (p.Gln1372His)
2g.25742401T>CCA425354782ASXL2c.3933A>G (p.Gln1311=)
c.3936A>G (p.Gln1312=)
c.3852A>G (p.Gln1284=)
c.2385A>G (p.Gln795=)
c.3570A>G (p.Gln1190=)
c.3156A>G (p.Gln1052=)
c.3762A>G (p.Gln1254=)
c.4116A>G (p.Gln1372=)
2g.25742401T>GCA346075154ASXL2c.3933A>C (p.Gln1311His)
c.3936A>C (p.Gln1312His)
c.3852A>C (p.Gln1284His)
c.2385A>C (p.Gln795His)
c.3570A>C (p.Gln1190His)
c.3156A>C (p.Gln1052His)
c.3762A>C (p.Gln1254His)
c.4116A>C (p.Gln1372His)
2g.25742402T>ACA346075161ASXL2c.3932A>T (p.Gln1311Leu)
c.3935A>T (p.Gln1312Leu)
c.3851A>T (p.Gln1284Leu)
c.2384A>T (p.Gln795Leu)
c.3569A>T (p.Gln1190Leu)
c.3155A>T (p.Gln1052Leu)
c.3761A>T (p.Gln1254Leu)
c.4115A>T (p.Gln1372Leu)
2g.25742402T>CCA346075163ASXL2c.3932A>G (p.Gln1311Arg)
c.3935A>G (p.Gln1312Arg)
c.3851A>G (p.Gln1284Arg)
c.2384A>G (p.Gln795Arg)
c.3569A>G (p.Gln1190Arg)
c.3155A>G (p.Gln1052Arg)
c.3761A>G (p.Gln1254Arg)
c.4115A>G (p.Gln1372Arg)
2g.25742402T>GCA346075158ASXL2c.3932A>C (p.Gln1311Pro)
c.3935A>C (p.Gln1312Pro)
c.3851A>C (p.Gln1284Pro)
c.2384A>C (p.Gln795Pro)
c.3569A>C (p.Gln1190Pro)
c.3155A>C (p.Gln1052Pro)
c.3761A>C (p.Gln1254Pro)
c.4115A>C (p.Gln1372Pro)
2g.25742403G>ACA346075169ASXL2c.3931C>T (p.Gln1311Ter)
c.3934C>T (p.Gln1312Ter)
c.3850C>T (p.Gln1284Ter)
c.2383C>T (p.Gln795Ter)
c.3568C>T (p.Gln1190Ter)
c.3154C>T (p.Gln1052Ter)
c.3760C>T (p.Gln1254Ter)
c.4114C>T (p.Gln1372Ter)
2g.25742403G>CCA346075167ASXL2c.3931C>G (p.Gln1311Glu)
c.3934C>G (p.Gln1312Glu)
c.3850C>G (p.Gln1284Glu)
c.2383C>G (p.Gln795Glu)
c.3568C>G (p.Gln1190Glu)
c.3154C>G (p.Gln1052Glu)
c.3760C>G (p.Gln1254Glu)
c.4114C>G (p.Gln1372Glu)
2g.25742403G>TCA346075173ASXL2c.3931C>A (p.Gln1311Lys)
c.3934C>A (p.Gln1312Lys)
c.3850C>A (p.Gln1284Lys)
c.2383C>A (p.Gln795Lys)
c.3568C>A (p.Gln1190Lys)
c.3154C>A (p.Gln1052Lys)
c.3760C>A (p.Gln1254Lys)
c.4114C>A (p.Gln1372Lys)
2g.25742404C>ACA425354789ASXL2c.3930G>T (p.Leu1310=)
c.3933G>T (p.Leu1311=)
c.3849G>T (p.Leu1283=)
c.2382G>T (p.Leu794=)
c.3567G>T (p.Leu1189=)
c.3153G>T (p.Leu1051=)
c.3759G>T (p.Leu1253=)
c.4113G>T (p.Leu1371=)
2g.25742404C=CA1239490446ASXL2c.3930G= (p.Leu1310=)
c.3933G= (p.Leu1311=)
c.3849G= (p.Leu1283=)
c.2382G= (p.Leu794=)
c.3567G= (p.Leu1189=)
c.3153G= (p.Leu1051=)
c.3759G= (p.Leu1253=)
c.4113G= (p.Leu1371=)
2g.25742404C>GCA425354793ASXL2c.3930G>C (p.Leu1310=)
c.3933G>C (p.Leu1311=)
c.3849G>C (p.Leu1283=)
c.2382G>C (p.Leu794=)
c.3567G>C (p.Leu1189=)
c.3153G>C (p.Leu1051=)
c.3759G>C (p.Leu1253=)
c.4113G>C (p.Leu1371=)
dbSNP gnomAD v2
2g.25742404C>TCA425354794ASXL2c.3930G>A (p.Leu1310=)
c.3933G>A (p.Leu1311=)
c.3849G>A (p.Leu1283=)
c.2382G>A (p.Leu794=)
c.3567G>A (p.Leu1189=)
c.3153G>A (p.Leu1051=)
c.3759G>A (p.Leu1253=)
c.4113G>A (p.Leu1371=)
gnomAD v4
2g.25742405A=CA1239490447ASXL2c.3929T= (p.Leu1310=)
c.3932T= (p.Leu1311=)
c.3848T= (p.Leu1283=)
c.2381T= (p.Leu794=)
c.3566T= (p.Leu1189=)
c.3152T= (p.Leu1051=)
c.3758T= (p.Leu1253=)
c.4112T= (p.Leu1371=)
2g.25742405A>CCA1557396ASXL2c.3929T>G (p.Leu1310Arg)
c.3932T>G (p.Leu1311Arg)
c.3848T>G (p.Leu1283Arg)
c.2381T>G (p.Leu794Arg)
c.3566T>G (p.Leu1189Arg)
c.3152T>G (p.Leu1051Arg)
c.3758T>G (p.Leu1253Arg)
c.4112T>G (p.Leu1371Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742405A>GCA346075177ASXL2c.3929T>C (p.Leu1310Pro)
c.3932T>C (p.Leu1311Pro)
c.3848T>C (p.Leu1283Pro)
c.2381T>C (p.Leu794Pro)
c.3566T>C (p.Leu1189Pro)
c.3152T>C (p.Leu1051Pro)
c.3758T>C (p.Leu1253Pro)
c.4112T>C (p.Leu1371Pro)
dbSNP
2g.25742405A>TCA346075180ASXL2c.3929T>A (p.Leu1310Gln)
c.3932T>A (p.Leu1311Gln)
c.3848T>A (p.Leu1283Gln)
c.2381T>A (p.Leu794Gln)
c.3566T>A (p.Leu1189Gln)
c.3152T>A (p.Leu1051Gln)
c.3758T>A (p.Leu1253Gln)
c.4112T>A (p.Leu1371Gln)
2g.25742406G>ACA425354797ASXL2c.3928C>T (p.Leu1310=)
c.3931C>T (p.Leu1311=)
c.3847C>T (p.Leu1283=)
c.2380C>T (p.Leu794=)
c.3565C>T (p.Leu1189=)
c.3151C>T (p.Leu1051=)
c.3757C>T (p.Leu1253=)
c.4111C>T (p.Leu1371=)
dbSNP gnomAD v4
2g.25742406G>CCA346075183ASXL2c.3928C>G (p.Leu1310Val)
c.3931C>G (p.Leu1311Val)
c.3847C>G (p.Leu1283Val)
c.2380C>G (p.Leu794Val)
c.3565C>G (p.Leu1189Val)
c.3151C>G (p.Leu1051Val)
c.3757C>G (p.Leu1253Val)
c.4111C>G (p.Leu1371Val)
2g.25742406G=CA1239490448ASXL2c.3928C= (p.Leu1310=)
c.3931C= (p.Leu1311=)
c.3847C= (p.Leu1283=)
c.2380C= (p.Leu794=)
c.3565C= (p.Leu1189=)
c.3151C= (p.Leu1051=)
c.3757C= (p.Leu1253=)
c.4111C= (p.Leu1371=)
2g.25742406G>TCA346075185ASXL2c.3928C>A (p.Leu1310Met)
c.3931C>A (p.Leu1311Met)
c.3847C>A (p.Leu1283Met)
c.2380C>A (p.Leu794Met)
c.3565C>A (p.Leu1189Met)
c.3151C>A (p.Leu1051Met)
c.3757C>A (p.Leu1253Met)
c.4111C>A (p.Leu1371Met)
2g.25742407G>ACA43734264ASXL2c.3927C>T (p.Pro1309=)
c.3930C>T (p.Pro1310=)
c.3846C>T (p.Pro1282=)
c.2379C>T (p.Pro793=)
c.3564C>T (p.Pro1188=)
c.3150C>T (p.Pro1050=)
c.3756C>T (p.Pro1252=)
c.4110C>T (p.Pro1370=)
dbSNP
2g.25742407G>CCA425354800ASXL2c.3927C>G (p.Pro1309=)
c.3930C>G (p.Pro1310=)
c.3846C>G (p.Pro1282=)
c.2379C>G (p.Pro793=)
c.3564C>G (p.Pro1188=)
c.3150C>G (p.Pro1050=)
c.3756C>G (p.Pro1252=)
c.4110C>G (p.Pro1370=)
gnomAD v4
2g.25742407G=CA1239490449ASXL2c.3927C= (p.Pro1309=)
c.3930C= (p.Pro1310=)
c.3846C= (p.Pro1282=)
c.2379C= (p.Pro793=)
c.3564C= (p.Pro1188=)
c.3150C= (p.Pro1050=)
c.3756C= (p.Pro1252=)
c.4110C= (p.Pro1370=)
2g.25742407G>TCA425354802ASXL2c.3927C>A (p.Pro1309=)
c.3930C>A (p.Pro1310=)
c.3846C>A (p.Pro1282=)
c.2379C>A (p.Pro793=)
c.3564C>A (p.Pro1188=)
c.3150C>A (p.Pro1050=)
c.3756C>A (p.Pro1252=)
c.4110C>A (p.Pro1370=)
2g.25742408G>ACA43734266ASXL2c.3926C>T (p.Pro1309Leu)
c.3929C>T (p.Pro1310Leu)
c.3845C>T (p.Pro1282Leu)
c.2378C>T (p.Pro793Leu)
c.3563C>T (p.Pro1188Leu)
c.3149C>T (p.Pro1050Leu)
c.3755C>T (p.Pro1252Leu)
c.4109C>T (p.Pro1370Leu)
dbSNP COSMIC COSMIC
2g.25742408G>CCA346075195ASXL2c.3926C>G (p.Pro1309Arg)
c.3929C>G (p.Pro1310Arg)
c.3845C>G (p.Pro1282Arg)
c.2378C>G (p.Pro793Arg)
c.3563C>G (p.Pro1188Arg)
c.3149C>G (p.Pro1050Arg)
c.3755C>G (p.Pro1252Arg)
c.4109C>G (p.Pro1370Arg)
2g.25742408G=CA1239490450ASXL2c.3926C= (p.Pro1309=)
c.3929C= (p.Pro1310=)
c.3845C= (p.Pro1282=)
c.2378C= (p.Pro793=)
c.3563C= (p.Pro1188=)
c.3149C= (p.Pro1050=)
c.3755C= (p.Pro1252=)
c.4109C= (p.Pro1370=)
2g.25742408G>TCA346075197ASXL2c.3926C>A (p.Pro1309His)
c.3929C>A (p.Pro1310His)
c.3845C>A (p.Pro1282His)
c.2378C>A (p.Pro793His)
c.3563C>A (p.Pro1188His)
c.3149C>A (p.Pro1050His)
c.3755C>A (p.Pro1252His)
c.4109C>A (p.Pro1370His)
gnomAD v4
2g.25742409G>ACA43734268ASXL2c.3925C>T (p.Pro1309Ser)
c.3928C>T (p.Pro1310Ser)
c.3844C>T (p.Pro1282Ser)
c.2377C>T (p.Pro793Ser)
c.3562C>T (p.Pro1188Ser)
c.3148C>T (p.Pro1050Ser)
c.3754C>T (p.Pro1252Ser)
c.4108C>T (p.Pro1370Ser)
dbSNP
2g.25742409G>CCA346075202ASXL2c.3925C>G (p.Pro1309Ala)
c.3928C>G (p.Pro1310Ala)
c.3844C>G (p.Pro1282Ala)
c.2377C>G (p.Pro793Ala)
c.3562C>G (p.Pro1188Ala)
c.3148C>G (p.Pro1050Ala)
c.3754C>G (p.Pro1252Ala)
c.4108C>G (p.Pro1370Ala)
2g.25742409G=CA1239490451ASXL2c.3925C= (p.Pro1309=)
c.3928C= (p.Pro1310=)
c.3844C= (p.Pro1282=)
c.2377C= (p.Pro793=)
c.3562C= (p.Pro1188=)
c.3148C= (p.Pro1050=)
c.3754C= (p.Pro1252=)
c.4108C= (p.Pro1370=)
2g.25742409G>TCA346075205ASXL2c.3925C>A (p.Pro1309Thr)
c.3928C>A (p.Pro1310Thr)
c.3844C>A (p.Pro1282Thr)
c.2377C>A (p.Pro793Thr)
c.3562C>A (p.Pro1188Thr)
c.3148C>A (p.Pro1050Thr)
c.3754C>A (p.Pro1252Thr)
c.4108C>A (p.Pro1370Thr)
2g.25742410delCA2594414440ASXL2c.3924del (p.Leu1310CysfsTer13)
c.3927del (p.Leu1311CysfsTer13)
c.3843del (p.Leu1283CysfsTer13)
c.2376del (p.Leu794CysfsTer13)
c.3561del (p.Leu1189CysfsTer13)
c.3147del (p.Leu1051CysfsTer13)
c.3753del (p.Leu1253CysfsTer13)
c.4107del (p.Leu1371CysfsTer13)
gnomAD v3 gnomAD v4
2g.25742410T>ACA425354811ASXL2c.3924A>T (p.Pro1308=)
c.3927A>T (p.Pro1309=)
c.3843A>T (p.Pro1281=)
c.2376A>T (p.Pro792=)
c.3561A>T (p.Pro1187=)
c.3147A>T (p.Pro1049=)
c.3753A>T (p.Pro1251=)
c.4107A>T (p.Pro1369=)
2g.25742410T>CCA425354813ASXL2c.3924A>G (p.Pro1308=)
c.3927A>G (p.Pro1309=)
c.3843A>G (p.Pro1281=)
c.2376A>G (p.Pro792=)
c.3561A>G (p.Pro1187=)
c.3147A>G (p.Pro1049=)
c.3753A>G (p.Pro1251=)
c.4107A>G (p.Pro1369=)
2g.25742410T>GCA425354815ASXL2c.3924A>C (p.Pro1308=)
c.3927A>C (p.Pro1309=)
c.3843A>C (p.Pro1281=)
c.2376A>C (p.Pro792=)
c.3561A>C (p.Pro1187=)
c.3147A>C (p.Pro1049=)
c.3753A>C (p.Pro1251=)
c.4107A>C (p.Pro1369=)
dbSNP gnomAD v3 gnomAD v4
2g.25742410T=CA1239490452ASXL2c.3924A= (p.Pro1308=)
c.3927A= (p.Pro1309=)
c.3843A= (p.Pro1281=)
c.2376A= (p.Pro792=)
c.3561A= (p.Pro1187=)
c.3147A= (p.Pro1049=)
c.3753A= (p.Pro1251=)
c.4107A= (p.Pro1369=)
2g.25742411G>ACA346075212ASXL2c.3923C>T (p.Pro1308Leu)
c.3926C>T (p.Pro1309Leu)
c.3842C>T (p.Pro1281Leu)
c.2375C>T (p.Pro792Leu)
c.3560C>T (p.Pro1187Leu)
c.3146C>T (p.Pro1049Leu)
c.3752C>T (p.Pro1251Leu)
c.4106C>T (p.Pro1369Leu)
dbSNP gnomAD v4 COSMIC COSMIC
2g.25742411G>CCA346075208ASXL2c.3923C>G (p.Pro1308Arg)
c.3926C>G (p.Pro1309Arg)
c.3842C>G (p.Pro1281Arg)
c.2375C>G (p.Pro792Arg)
c.3560C>G (p.Pro1187Arg)
c.3146C>G (p.Pro1049Arg)
c.3752C>G (p.Pro1251Arg)
c.4106C>G (p.Pro1369Arg)
2g.25742411G=CA1239490453ASXL2c.3923C= (p.Pro1308=)
c.3926C= (p.Pro1309=)
c.3842C= (p.Pro1281=)
c.2375C= (p.Pro792=)
c.3560C= (p.Pro1187=)
c.3146C= (p.Pro1049=)
c.3752C= (p.Pro1251=)
c.4106C= (p.Pro1369=)
2g.25742411G>TCA346075210ASXL2c.3923C>A (p.Pro1308Gln)
c.3926C>A (p.Pro1309Gln)
c.3842C>A (p.Pro1281Gln)
c.2375C>A (p.Pro792Gln)
c.3560C>A (p.Pro1187Gln)
c.3146C>A (p.Pro1049Gln)
c.3752C>A (p.Pro1251Gln)
c.4106C>A (p.Pro1369Gln)
gnomAD v4
2g.25742412G>ACA346075217ASXL2c.3922C>T (p.Pro1308Ser)
c.3925C>T (p.Pro1309Ser)
c.3841C>T (p.Pro1281Ser)
c.2374C>T (p.Pro792Ser)
c.3559C>T (p.Pro1187Ser)
c.3145C>T (p.Pro1049Ser)
c.3751C>T (p.Pro1251Ser)
c.4105C>T (p.Pro1369Ser)
2g.25742412G>CCA346075218ASXL2c.3922C>G (p.Pro1308Ala)
c.3925C>G (p.Pro1309Ala)
c.3841C>G (p.Pro1281Ala)
c.2374C>G (p.Pro792Ala)
c.3559C>G (p.Pro1187Ala)
c.3145C>G (p.Pro1049Ala)
c.3751C>G (p.Pro1251Ala)
c.4105C>G (p.Pro1369Ala)
2g.25742412G>TCA346075221ASXL2c.3922C>A (p.Pro1308Thr)
c.3925C>A (p.Pro1309Thr)
c.3841C>A (p.Pro1281Thr)
c.2374C>A (p.Pro792Thr)
c.3559C>A (p.Pro1187Thr)
c.3145C>A (p.Pro1049Thr)
c.3751C>A (p.Pro1251Thr)
c.4105C>A (p.Pro1369Thr)
gnomAD v4
2g.25742413A>CCA425354826ASXL2c.3921T>G (p.Leu1307=)
c.3924T>G (p.Leu1308=)
c.3840T>G (p.Leu1280=)
c.2373T>G (p.Leu791=)
c.3558T>G (p.Leu1186=)
c.3144T>G (p.Leu1048=)
c.3750T>G (p.Leu1250=)
c.4104T>G (p.Leu1368=)
2g.25742413A>GCA425354828ASXL2c.3921T>C (p.Leu1307=)
c.3924T>C (p.Leu1308=)
c.3840T>C (p.Leu1280=)
c.2373T>C (p.Leu791=)
c.3558T>C (p.Leu1186=)
c.3144T>C (p.Leu1048=)
c.3750T>C (p.Leu1250=)
c.4104T>C (p.Leu1368=)
2g.25742413A>TCA425354823ASXL2c.3921T>A (p.Leu1307=)
c.3924T>A (p.Leu1308=)
c.3840T>A (p.Leu1280=)
c.2373T>A (p.Leu791=)
c.3558T>A (p.Leu1186=)
c.3144T>A (p.Leu1048=)
c.3750T>A (p.Leu1250=)
c.4104T>A (p.Leu1368=)
2g.25742413_25742414delCA2658189296ASXL2c.3920_3921del (p.Leu1307ProfsTer20)
c.3923_3924del (p.Leu1308ProfsTer20)
c.3839_3840del (p.Leu1280ProfsTer20)
c.2372_2373del (p.Leu791ProfsTer20)
c.3557_3558del (p.Leu1186ProfsTer20)
c.3143_3144del (p.Leu1048ProfsTer20)
c.3749_3750del (p.Leu1250ProfsTer20)
c.4103_4104del (p.Leu1368ProfsTer20)
gnomAD v4
2g.25742413_25742416delinsAAGGCA1239490454ASXL2c.3918_3921delinsCCTT (p.Leu1306=)
c.3921_3924delinsCCTT (p.Leu1307=)
c.3837_3840delinsCCTT (p.Leu1279=)
c.2370_2373delinsCCTT (p.Leu790=)
c.3555_3558delinsCCTT (p.Leu1185=)
c.3141_3144delinsCCTT (p.Leu1047=)
c.3747_3750delinsCCTT (p.Leu1249=)
c.4101_4104delinsCCTT (p.Leu1367=)
2g.25742413_25742420delCA2594414441ASXL2c.3914_3921del (p.Leu1305ProfsTer20)
c.3917_3924del (p.Leu1306ProfsTer20)
c.3833_3840del (p.Leu1278ProfsTer20)
c.2366_2373del (p.Leu789ProfsTer20)
c.3551_3558del (p.Leu1184ProfsTer20)
c.3137_3144del (p.Leu1046ProfsTer20)
c.3743_3750del (p.Leu1248ProfsTer20)
c.4097_4104del (p.Leu1366ProfsTer20)
gnomAD v3 gnomAD v4
2g.25742414A>CCA346075224ASXL2c.3920T>G (p.Leu1307Arg)
c.3923T>G (p.Leu1308Arg)
c.3839T>G (p.Leu1280Arg)
c.2372T>G (p.Leu791Arg)
c.3557T>G (p.Leu1186Arg)
c.3143T>G (p.Leu1048Arg)
c.3749T>G (p.Leu1250Arg)
c.4103T>G (p.Leu1368Arg)
2g.25742414A>GCA346075225ASXL2c.3920T>C (p.Leu1307Pro)
c.3923T>C (p.Leu1308Pro)
c.3839T>C (p.Leu1280Pro)
c.2372T>C (p.Leu791Pro)
c.3557T>C (p.Leu1186Pro)
c.3143T>C (p.Leu1048Pro)
c.3749T>C (p.Leu1250Pro)
c.4103T>C (p.Leu1368Pro)
gnomAD v3 gnomAD v4
2g.25742414A>TCA346075227ASXL2c.3920T>A (p.Leu1307His)
c.3923T>A (p.Leu1308His)
c.3839T>A (p.Leu1280His)
c.2372T>A (p.Leu791His)
c.3557T>A (p.Leu1186His)
c.3143T>A (p.Leu1048His)
c.3749T>A (p.Leu1250His)
c.4103T>A (p.Leu1368His)
2g.25742416_25742418delCA1239490455ASXL2c.3918_3920del (p.Leu1307del)
c.3921_3923del (p.Leu1308del)
c.3837_3839del (p.Leu1280del)
c.2370_2372del (p.Leu791del)
c.3555_3557del (p.Leu1186del)
c.3141_3143del (p.Leu1048del)
c.3747_3749del (p.Leu1250del)
c.4101_4103del (p.Leu1368del)
dbSNP
2g.25742415G>ACA43734270ASXL2c.3919C>T (p.Leu1307Phe)
c.3922C>T (p.Leu1308Phe)
c.3838C>T (p.Leu1280Phe)
c.2371C>T (p.Leu791Phe)
c.3556C>T (p.Leu1186Phe)
c.3142C>T (p.Leu1048Phe)
c.3748C>T (p.Leu1250Phe)
c.4102C>T (p.Leu1368Phe)
dbSNP gnomAD v4
2g.25742415G>CCA346075229ASXL2c.3919C>G (p.Leu1307Val)
c.3922C>G (p.Leu1308Val)
c.3838C>G (p.Leu1280Val)
c.2371C>G (p.Leu791Val)
c.3556C>G (p.Leu1186Val)
c.3142C>G (p.Leu1048Val)
c.3748C>G (p.Leu1250Val)
c.4102C>G (p.Leu1368Val)
dbSNP
2g.25742415G=CA1239490456ASXL2c.3919C= (p.Leu1307=)
c.3922C= (p.Leu1308=)
c.3838C= (p.Leu1280=)
c.2371C= (p.Leu791=)
c.3556C= (p.Leu1186=)
c.3142C= (p.Leu1048=)
c.3748C= (p.Leu1250=)
c.4102C= (p.Leu1368=)
2g.25742415G>TCA346075230ASXL2c.3919C>A (p.Leu1307Ile)
c.3922C>A (p.Leu1308Ile)
c.3838C>A (p.Leu1280Ile)
c.2371C>A (p.Leu791Ile)
c.3556C>A (p.Leu1186Ile)
c.3142C>A (p.Leu1048Ile)
c.3748C>A (p.Leu1250Ile)
c.4102C>A (p.Leu1368Ile)
dbSNP gnomAD v2 gnomAD v4
2g.25742416G>ACA425354841ASXL2c.3918C>T (p.Leu1306=)
c.3921C>T (p.Leu1307=)
c.3837C>T (p.Leu1279=)
c.2370C>T (p.Leu790=)
c.3555C>T (p.Leu1185=)
c.3141C>T (p.Leu1047=)
c.3747C>T (p.Leu1249=)
c.4101C>T (p.Leu1367=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742416G>CCA425354843ASXL2c.3918C>G (p.Leu1306=)
c.3921C>G (p.Leu1307=)
c.3837C>G (p.Leu1279=)
c.2370C>G (p.Leu790=)
c.3555C>G (p.Leu1185=)
c.3141C>G (p.Leu1047=)
c.3747C>G (p.Leu1249=)
c.4101C>G (p.Leu1367=)
gnomAD v4
2g.25742416G=CA1239490457ASXL2c.3918C= (p.Leu1306=)
c.3921C= (p.Leu1307=)
c.3837C= (p.Leu1279=)
c.2370C= (p.Leu790=)
c.3555C= (p.Leu1185=)
c.3141C= (p.Leu1047=)
c.3747C= (p.Leu1249=)
c.4101C= (p.Leu1367=)
2g.25742416G>TCA425354847ASXL2c.3918C>A (p.Leu1306=)
c.3921C>A (p.Leu1307=)
c.3837C>A (p.Leu1279=)
c.2370C>A (p.Leu790=)
c.3555C>A (p.Leu1185=)
c.3141C>A (p.Leu1047=)
c.3747C>A (p.Leu1249=)
c.4101C>A (p.Leu1367=)
gnomAD v4
2g.25742417A>CCA346075231ASXL2c.3917T>G (p.Leu1306Arg)
c.3920T>G (p.Leu1307Arg)
c.3836T>G (p.Leu1279Arg)
c.2369T>G (p.Leu790Arg)
c.3554T>G (p.Leu1185Arg)
c.3140T>G (p.Leu1047Arg)
c.3746T>G (p.Leu1249Arg)
c.4100T>G (p.Leu1367Arg)
2g.25742417A>GCA346075232ASXL2c.3917T>C (p.Leu1306Pro)
c.3920T>C (p.Leu1307Pro)
c.3836T>C (p.Leu1279Pro)
c.2369T>C (p.Leu790Pro)
c.3554T>C (p.Leu1185Pro)
c.3140T>C (p.Leu1047Pro)
c.3746T>C (p.Leu1249Pro)
c.4100T>C (p.Leu1367Pro)
2g.25742417A>TCA346075233ASXL2c.3917T>A (p.Leu1306His)
c.3920T>A (p.Leu1307His)
c.3836T>A (p.Leu1279His)
c.2369T>A (p.Leu790His)
c.3554T>A (p.Leu1185His)
c.3140T>A (p.Leu1047His)
c.3746T>A (p.Leu1249His)
c.4100T>A (p.Leu1367His)
2g.25742417_25742420delCA2658189297ASXL2c.3914_3917del (p.Leu1305ProfsTer17)
c.3917_3920del (p.Leu1306ProfsTer17)
c.3833_3836del (p.Leu1278ProfsTer17)
c.2366_2369del (p.Leu789ProfsTer17)
c.3551_3554del (p.Leu1184ProfsTer17)
c.3137_3140del (p.Leu1046ProfsTer17)
c.3743_3746del (p.Leu1248ProfsTer17)
c.4097_4100del (p.Leu1366ProfsTer17)
gnomAD v4
2g.25742418G>ACA346075239ASXL2c.3916C>T (p.Leu1306Phe)
c.3919C>T (p.Leu1307Phe)
c.3835C>T (p.Leu1279Phe)
c.2368C>T (p.Leu790Phe)
c.3553C>T (p.Leu1185Phe)
c.3139C>T (p.Leu1047Phe)
c.3745C>T (p.Leu1249Phe)
c.4099C>T (p.Leu1367Phe)
2g.25742418G>CCA346075238ASXL2c.3916C>G (p.Leu1306Val)
c.3919C>G (p.Leu1307Val)
c.3835C>G (p.Leu1279Val)
c.2368C>G (p.Leu790Val)
c.3553C>G (p.Leu1185Val)
c.3139C>G (p.Leu1047Val)
c.3745C>G (p.Leu1249Val)
c.4099C>G (p.Leu1367Val)
gnomAD v4
2g.25742418G>TCA346075235ASXL2c.3916C>A (p.Leu1306Ile)
c.3919C>A (p.Leu1307Ile)
c.3835C>A (p.Leu1279Ile)
c.2368C>A (p.Leu790Ile)
c.3553C>A (p.Leu1185Ile)
c.3139C>A (p.Leu1047Ile)
c.3745C>A (p.Leu1249Ile)
c.4099C>A (p.Leu1367Ile)
gnomAD v4
2g.25742419T>ACA425354853ASXL2c.3915A>T (p.Leu1305=)
c.3918A>T (p.Leu1306=)
c.3834A>T (p.Leu1278=)
c.2367A>T (p.Leu789=)
c.3552A>T (p.Leu1184=)
c.3138A>T (p.Leu1046=)
c.3744A>T (p.Leu1248=)
c.4098A>T (p.Leu1366=)
2g.25742419T>CCA425354852ASXL2c.3915A>G (p.Leu1305=)
c.3918A>G (p.Leu1306=)
c.3834A>G (p.Leu1278=)
c.2367A>G (p.Leu789=)
c.3552A>G (p.Leu1184=)
c.3138A>G (p.Leu1046=)
c.3744A>G (p.Leu1248=)
c.4098A>G (p.Leu1366=)
2g.25742419T>GCA1557397ASXL2c.3915A>C (p.Leu1305=)
c.3918A>C (p.Leu1306=)
c.3834A>C (p.Leu1278=)
c.2367A>C (p.Leu789=)
c.3552A>C (p.Leu1184=)
c.3138A>C (p.Leu1046=)
c.3744A>C (p.Leu1248=)
c.4098A>C (p.Leu1366=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742419T=CA1239490458ASXL2c.3915A= (p.Leu1305=)
c.3918A= (p.Leu1306=)
c.3834A= (p.Leu1278=)
c.2367A= (p.Leu789=)
c.3552A= (p.Leu1184=)
c.3138A= (p.Leu1046=)
c.3744A= (p.Leu1248=)
c.4098A= (p.Leu1366=)
2g.25742420A=CA1239490459ASXL2c.3914T= (p.Leu1305=)
c.3917T= (p.Leu1306=)
c.3833T= (p.Leu1278=)
c.2366T= (p.Leu789=)
c.3551T= (p.Leu1184=)
c.3137T= (p.Leu1046=)
c.3743T= (p.Leu1248=)
c.4097T= (p.Leu1366=)
2g.25742420A>CCA346075243ASXL2c.3914T>G (p.Leu1305Arg)
c.3917T>G (p.Leu1306Arg)
c.3833T>G (p.Leu1278Arg)
c.2366T>G (p.Leu789Arg)
c.3551T>G (p.Leu1184Arg)
c.3137T>G (p.Leu1046Arg)
c.3743T>G (p.Leu1248Arg)
c.4097T>G (p.Leu1366Arg)
2g.25742420A>GCA346075245ASXL2c.3914T>C (p.Leu1305Pro)
c.3917T>C (p.Leu1306Pro)
c.3833T>C (p.Leu1278Pro)
c.2366T>C (p.Leu789Pro)
c.3551T>C (p.Leu1184Pro)
c.3137T>C (p.Leu1046Pro)
c.3743T>C (p.Leu1248Pro)
c.4097T>C (p.Leu1366Pro)
dbSNP
2g.25742420A>TCA346075248ASXL2c.3914T>A (p.Leu1305Gln)
c.3917T>A (p.Leu1306Gln)
c.3833T>A (p.Leu1278Gln)
c.2366T>A (p.Leu789Gln)
c.3551T>A (p.Leu1184Gln)
c.3137T>A (p.Leu1046Gln)
c.3743T>A (p.Leu1248Gln)
c.4097T>A (p.Leu1366Gln)
2g.25742421G>ACA43734274ASXL2c.3913C>T (p.Leu1305=)
c.3916C>T (p.Leu1306=)
c.3832C>T (p.Leu1278=)
c.2365C>T (p.Leu789=)
c.3550C>T (p.Leu1184=)
c.3136C>T (p.Leu1046=)
c.3742C>T (p.Leu1248=)
c.4096C>T (p.Leu1366=)
dbSNP
2g.25742421G>CCA346075253ASXL2c.3913C>G (p.Leu1305Val)
c.3916C>G (p.Leu1306Val)
c.3832C>G (p.Leu1278Val)
c.2365C>G (p.Leu789Val)
c.3550C>G (p.Leu1184Val)
c.3136C>G (p.Leu1046Val)
c.3742C>G (p.Leu1248Val)
c.4096C>G (p.Leu1366Val)
2g.25742421G=CA1239490460ASXL2c.3913C= (p.Leu1305=)
c.3916C= (p.Leu1306=)
c.3832C= (p.Leu1278=)
c.2365C= (p.Leu789=)
c.3550C= (p.Leu1184=)
c.3136C= (p.Leu1046=)
c.3742C= (p.Leu1248=)
c.4096C= (p.Leu1366=)
2g.25742421G>TCA346075256ASXL2c.3913C>A (p.Leu1305Ile)
c.3916C>A (p.Leu1306Ile)
c.3832C>A (p.Leu1278Ile)
c.2365C>A (p.Leu789Ile)
c.3550C>A (p.Leu1184Ile)
c.3136C>A (p.Leu1046Ile)
c.3742C>A (p.Leu1248Ile)
c.4096C>A (p.Leu1366Ile)
gnomAD v4
2g.25742428_25742440delCA2658189298ASXL2c.3901_3913del (p.Thr1301TyrfsTer18)
c.3904_3916del (p.Thr1302TyrfsTer18)
c.3820_3832del (p.Thr1274TyrfsTer18)
c.2353_2365del (p.Thr785TyrfsTer18)
c.3538_3550del (p.Thr1180TyrfsTer18)
c.3124_3136del (p.Thr1042TyrfsTer18)
c.3730_3742del (p.Thr1244TyrfsTer18)
c.4084_4096del (p.Thr1362TyrfsTer18)
gnomAD v4
2g.25742422G>ACA425354859ASXL2c.3912C>T (p.Pro1304=)
c.3915C>T (p.Pro1305=)
c.3831C>T (p.Pro1277=)
c.2364C>T (p.Pro788=)
c.3549C>T (p.Pro1183=)
c.3135C>T (p.Pro1045=)
c.3741C>T (p.Pro1247=)
c.4095C>T (p.Pro1365=)
gnomAD v4
2g.25742422G>CCA425354860ASXL2c.3912C>G (p.Pro1304=)
c.3915C>G (p.Pro1305=)
c.3831C>G (p.Pro1277=)
c.2364C>G (p.Pro788=)
c.3549C>G (p.Pro1183=)
c.3135C>G (p.Pro1045=)
c.3741C>G (p.Pro1247=)
c.4095C>G (p.Pro1365=)
2g.25742422G>TCA425354861ASXL2c.3912C>A (p.Pro1304=)
c.3915C>A (p.Pro1305=)
c.3831C>A (p.Pro1277=)
c.2364C>A (p.Pro788=)
c.3549C>A (p.Pro1183=)
c.3135C>A (p.Pro1045=)
c.3741C>A (p.Pro1247=)
c.4095C>A (p.Pro1365=)
2g.25742423G>ACA43734277ASXL2c.3911C>T (p.Pro1304Leu)
c.3914C>T (p.Pro1305Leu)
c.3830C>T (p.Pro1277Leu)
c.2363C>T (p.Pro788Leu)
c.3548C>T (p.Pro1183Leu)
c.3134C>T (p.Pro1045Leu)
c.3740C>T (p.Pro1247Leu)
c.4094C>T (p.Pro1365Leu)
dbSNP
2g.25742423G>CCA346075259ASXL2c.3911C>G (p.Pro1304Arg)
c.3914C>G (p.Pro1305Arg)
c.3830C>G (p.Pro1277Arg)
c.2363C>G (p.Pro788Arg)
c.3548C>G (p.Pro1183Arg)
c.3134C>G (p.Pro1045Arg)
c.3740C>G (p.Pro1247Arg)
c.4094C>G (p.Pro1365Arg)
2g.25742423G=CA1239490461ASXL2c.3911C= (p.Pro1304=)
c.3914C= (p.Pro1305=)
c.3830C= (p.Pro1277=)
c.2363C= (p.Pro788=)
c.3548C= (p.Pro1183=)
c.3134C= (p.Pro1045=)
c.3740C= (p.Pro1247=)
c.4094C= (p.Pro1365=)
2g.25742423G>TCA346075261ASXL2c.3911C>A (p.Pro1304His)
c.3914C>A (p.Pro1305His)
c.3830C>A (p.Pro1277His)
c.2363C>A (p.Pro788His)
c.3548C>A (p.Pro1183His)
c.3134C>A (p.Pro1045His)
c.3740C>A (p.Pro1247His)
c.4094C>A (p.Pro1365His)
gnomAD v4
2g.25742424G>ACA346075266ASXL2c.3910C>T (p.Pro1304Ser)
c.3913C>T (p.Pro1305Ser)
c.3829C>T (p.Pro1277Ser)
c.2362C>T (p.Pro788Ser)
c.3547C>T (p.Pro1183Ser)
c.3133C>T (p.Pro1045Ser)
c.3739C>T (p.Pro1247Ser)
c.4093C>T (p.Pro1365Ser)
dbSNP gnomAD v2 gnomAD v4
2g.25742424G>CCA346075268ASXL2c.3910C>G (p.Pro1304Ala)
c.3913C>G (p.Pro1305Ala)
c.3829C>G (p.Pro1277Ala)
c.2362C>G (p.Pro788Ala)
c.3547C>G (p.Pro1183Ala)
c.3133C>G (p.Pro1045Ala)
c.3739C>G (p.Pro1247Ala)
c.4093C>G (p.Pro1365Ala)
2g.25742424G=CA1239490462ASXL2c.3910C= (p.Pro1304=)
c.3913C= (p.Pro1305=)
c.3829C= (p.Pro1277=)
c.2362C= (p.Pro788=)
c.3547C= (p.Pro1183=)
c.3133C= (p.Pro1045=)
c.3739C= (p.Pro1247=)
c.4093C= (p.Pro1365=)
2g.25742424G>TCA346075271ASXL2c.3910C>A (p.Pro1304Thr)
c.3913C>A (p.Pro1305Thr)
c.3829C>A (p.Pro1277Thr)
c.2362C>A (p.Pro788Thr)
c.3547C>A (p.Pro1183Thr)
c.3133C>A (p.Pro1045Thr)
c.3739C>A (p.Pro1247Thr)
c.4093C>A (p.Pro1365Thr)
gnomAD v4
2g.25742425C>ACA1557398ASXL2c.3909G>T (p.Gln1303His)
c.3912G>T (p.Gln1304His)
c.3828G>T (p.Gln1276His)
c.2361G>T (p.Gln787His)
c.3546G>T (p.Gln1182His)
c.3132G>T (p.Gln1044His)
c.3738G>T (p.Gln1246His)
c.4092G>T (p.Gln1364His)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742425C=CA1239490463ASXL2c.3909G= (p.Gln1303=)
c.3912G= (p.Gln1304=)
c.3828G= (p.Gln1276=)
c.2361G= (p.Gln787=)
c.3546G= (p.Gln1182=)
c.3132G= (p.Gln1044=)
c.3738G= (p.Gln1246=)
c.4092G= (p.Gln1364=)
2g.25742425C>GCA346075276ASXL2c.3909G>C (p.Gln1303His)
c.3912G>C (p.Gln1304His)
c.3828G>C (p.Gln1276His)
c.2361G>C (p.Gln787His)
c.3546G>C (p.Gln1182His)
c.3132G>C (p.Gln1044His)
c.3738G>C (p.Gln1246His)
c.4092G>C (p.Gln1364His)
gnomAD v4
2g.25742425C>TCA425354871ASXL2c.3909G>A (p.Gln1303=)
c.3912G>A (p.Gln1304=)
c.3828G>A (p.Gln1276=)
c.2361G>A (p.Gln787=)
c.3546G>A (p.Gln1182=)
c.3132G>A (p.Gln1044=)
c.3738G>A (p.Gln1246=)
c.4092G>A (p.Gln1364=)
gnomAD v3 gnomAD v4
2g.25742425_25742426delCA2658189299ASXL2c.3908_3909del (p.Gln1303ProfsTer24)
c.3911_3912del (p.Gln1304ProfsTer24)
c.3827_3828del (p.Gln1276ProfsTer24)
c.2360_2361del (p.Gln787ProfsTer24)
c.3545_3546del (p.Gln1182ProfsTer24)
c.3131_3132del (p.Gln1044ProfsTer24)
c.3737_3738del (p.Gln1246ProfsTer24)
c.4091_4092del (p.Gln1364ProfsTer24)
gnomAD v4
2g.25742425_25742429delCA2594414443ASXL2c.3905_3909del (p.His1302ProfsTer24)
c.3908_3912del (p.His1303ProfsTer24)
c.3824_3828del (p.His1275ProfsTer24)
c.2357_2361del (p.His786ProfsTer24)
c.3542_3546del (p.His1181ProfsTer24)
c.3128_3132del (p.His1043ProfsTer24)
c.3734_3738del (p.His1245ProfsTer24)
c.4088_4092del (p.His1363ProfsTer24)
gnomAD v3 gnomAD v4
2g.25742426T>ACA346075279ASXL2c.3908A>T (p.Gln1303Leu)
c.3911A>T (p.Gln1304Leu)
c.3827A>T (p.Gln1276Leu)
c.2360A>T (p.Gln787Leu)
c.3545A>T (p.Gln1182Leu)
c.3131A>T (p.Gln1044Leu)
c.3737A>T (p.Gln1246Leu)
c.4091A>T (p.Gln1364Leu)
2g.25742426T>CCA346075282ASXL2c.3908A>G (p.Gln1303Arg)
c.3911A>G (p.Gln1304Arg)
c.3827A>G (p.Gln1276Arg)
c.2360A>G (p.Gln787Arg)
c.3545A>G (p.Gln1182Arg)
c.3131A>G (p.Gln1044Arg)
c.3737A>G (p.Gln1246Arg)
c.4091A>G (p.Gln1364Arg)
2g.25742426T>GCA346075281ASXL2c.3908A>C (p.Gln1303Pro)
c.3911A>C (p.Gln1304Pro)
c.3827A>C (p.Gln1276Pro)
c.2360A>C (p.Gln787Pro)
c.3545A>C (p.Gln1182Pro)
c.3131A>C (p.Gln1044Pro)
c.3737A>C (p.Gln1246Pro)
c.4091A>C (p.Gln1364Pro)
dbSNP gnomAD v3 gnomAD v4
2g.25742426T=CA1239490464ASXL2c.3908A= (p.Gln1303=)
c.3911A= (p.Gln1304=)
c.3827A= (p.Gln1276=)
c.2360A= (p.Gln787=)
c.3545A= (p.Gln1182=)
c.3131A= (p.Gln1044=)
c.3737A= (p.Gln1246=)
c.4091A= (p.Gln1364=)
2g.25742427G>ACA346075286ASXL2c.3907C>T (p.Gln1303Ter)
c.3910C>T (p.Gln1304Ter)
c.3826C>T (p.Gln1276Ter)
c.2359C>T (p.Gln787Ter)
c.3544C>T (p.Gln1182Ter)
c.3130C>T (p.Gln1044Ter)
c.3736C>T (p.Gln1246Ter)
c.4090C>T (p.Gln1364Ter)
2g.25742427G>CCA346075288ASXL2c.3907C>G (p.Gln1303Glu)
c.3910C>G (p.Gln1304Glu)
c.3826C>G (p.Gln1276Glu)
c.2359C>G (p.Gln787Glu)
c.3544C>G (p.Gln1182Glu)
c.3130C>G (p.Gln1044Glu)
c.3736C>G (p.Gln1246Glu)
c.4090C>G (p.Gln1364Glu)
2g.25742427G>TCA346075292ASXL2c.3907C>A (p.Gln1303Lys)
c.3910C>A (p.Gln1304Lys)
c.3826C>A (p.Gln1276Lys)
c.2359C>A (p.Gln787Lys)
c.3544C>A (p.Gln1182Lys)
c.3130C>A (p.Gln1044Lys)
c.3736C>A (p.Gln1246Lys)
c.4090C>A (p.Gln1364Lys)
gnomAD v4
2g.25742428delCA2658189300ASXL2c.3907del (p.Gln1303SerfsTer20)
c.3910del (p.Gln1304SerfsTer20)
c.3826del (p.Gln1276SerfsTer20)
c.2359del (p.Gln787SerfsTer20)
c.3544del (p.Gln1182SerfsTer20)
c.3130del (p.Gln1044SerfsTer20)
c.3736del (p.Gln1246SerfsTer20)
c.4090del (p.Gln1364SerfsTer20)
gnomAD v4
2g.25742433_25742436delCA2658189301ASXL2c.3904_3907del (p.His1302SerfsTer20)
c.3907_3910del (p.His1303SerfsTer20)
c.3823_3826del (p.His1275SerfsTer20)
c.2356_2359del (p.His786SerfsTer20)
c.3541_3544del (p.His1181SerfsTer20)
c.3127_3130del (p.His1043SerfsTer20)
c.3733_3736del (p.His1245SerfsTer20)
c.4087_4090del (p.His1363SerfsTer20)
gnomAD v4
2g.25742428G>ACA1557399ASXL2c.3906C>T (p.His1302=)
c.3909C>T (p.His1303=)
c.3825C>T (p.His1275=)
c.2358C>T (p.His786=)
c.3543C>T (p.His1181=)
c.3129C>T (p.His1043=)
c.3735C>T (p.His1245=)
c.4089C>T (p.His1363=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742428G>CCA346075297ASXL2c.3906C>G (p.His1302Gln)
c.3909C>G (p.His1303Gln)
c.3825C>G (p.His1275Gln)
c.2358C>G (p.His786Gln)
c.3543C>G (p.His1181Gln)
c.3129C>G (p.His1043Gln)
c.3735C>G (p.His1245Gln)
c.4089C>G (p.His1363Gln)
2g.25742428G=CA1239490465ASXL2c.3906C= (p.His1302=)
c.3909C= (p.His1303=)
c.3825C= (p.His1275=)
c.2358C= (p.His786=)
c.3543C= (p.His1181=)
c.3129C= (p.His1043=)
c.3735C= (p.His1245=)
c.4089C= (p.His1363=)
2g.25742428G>TCA346075300ASXL2c.3906C>A (p.His1302Gln)
c.3909C>A (p.His1303Gln)
c.3825C>A (p.His1275Gln)
c.2358C>A (p.His786Gln)
c.3543C>A (p.His1181Gln)
c.3129C>A (p.His1043Gln)
c.3735C>A (p.His1245Gln)
c.4089C>A (p.His1363Gln)
gnomAD v4
2g.25742429T>ACA346075303ASXL2c.3905A>T (p.His1302Leu)
c.3908A>T (p.His1303Leu)
c.3824A>T (p.His1275Leu)
c.2357A>T (p.His786Leu)
c.3542A>T (p.His1181Leu)
c.3128A>T (p.His1043Leu)
c.3734A>T (p.His1245Leu)
c.4088A>T (p.His1363Leu)
2g.25742429T>CCA346075304ASXL2c.3905A>G (p.His1302Arg)
c.3908A>G (p.His1303Arg)
c.3824A>G (p.His1275Arg)
c.2357A>G (p.His786Arg)
c.3542A>G (p.His1181Arg)
c.3128A>G (p.His1043Arg)
c.3734A>G (p.His1245Arg)
c.4088A>G (p.His1363Arg)
gnomAD v4
2g.25742429T>GCA346075306ASXL2c.3905A>C (p.His1302Pro)
c.3908A>C (p.His1303Pro)
c.3824A>C (p.His1275Pro)
c.2357A>C (p.His786Pro)
c.3542A>C (p.His1181Pro)
c.3128A>C (p.His1043Pro)
c.3734A>C (p.His1245Pro)
c.4088A>C (p.His1363Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742429T=CA1239490466ASXL2c.3905A= (p.His1302=)
c.3908A= (p.His1303=)
c.3824A= (p.His1275=)
c.2357A= (p.His786=)
c.3542A= (p.His1181=)
c.3128A= (p.His1043=)
c.3734A= (p.His1245=)
c.4088A= (p.His1363=)
2g.25742430G>ACA346075311ASXL2c.3904C>T (p.His1302Tyr)
c.3907C>T (p.His1303Tyr)
c.3823C>T (p.His1275Tyr)
c.2356C>T (p.His786Tyr)
c.3541C>T (p.His1181Tyr)
c.3127C>T (p.His1043Tyr)
c.3733C>T (p.His1245Tyr)
c.4087C>T (p.His1363Tyr)
gnomAD v4
2g.25742430G>CCA346075313ASXL2c.3904C>G (p.His1302Asp)
c.3907C>G (p.His1303Asp)
c.3823C>G (p.His1275Asp)
c.2356C>G (p.His786Asp)
c.3541C>G (p.His1181Asp)
c.3127C>G (p.His1043Asp)
c.3733C>G (p.His1245Asp)
c.4087C>G (p.His1363Asp)
2g.25742430G>TCA346075315ASXL2c.3904C>A (p.His1302Asn)
c.3907C>A (p.His1303Asn)
c.3823C>A (p.His1275Asn)
c.2356C>A (p.His786Asn)
c.3541C>A (p.His1181Asn)
c.3127C>A (p.His1043Asn)
c.3733C>A (p.His1245Asn)
c.4087C>A (p.His1363Asn)
gnomAD v4
2g.25742432delCA2658189302ASXL2c.3904del (p.His1302ThrfsTer21)
c.3907del (p.His1303ThrfsTer21)
c.3823del (p.His1275ThrfsTer21)
c.2356del (p.His786ThrfsTer21)
c.3541del (p.His1181ThrfsTer21)
c.3127del (p.His1043ThrfsTer21)
c.3733del (p.His1245ThrfsTer21)
c.4087del (p.His1363ThrfsTer21)
gnomAD v4
2g.25742431G>ACA425354889ASXL2c.3903C>T (p.Thr1301=)
c.3906C>T (p.Thr1302=)
c.3822C>T (p.Thr1274=)
c.2355C>T (p.Thr785=)
c.3540C>T (p.Thr1180=)
c.3126C>T (p.Thr1042=)
c.3732C>T (p.Thr1244=)
c.4086C>T (p.Thr1362=)
gnomAD v4
2g.25742431G>CCA425354890ASXL2c.3903C>G (p.Thr1301=)
c.3906C>G (p.Thr1302=)
c.3822C>G (p.Thr1274=)
c.2355C>G (p.Thr785=)
c.3540C>G (p.Thr1180=)
c.3126C>G (p.Thr1042=)
c.3732C>G (p.Thr1244=)
c.4086C>G (p.Thr1362=)
gnomAD v4
2g.25742431G=CA1239490467ASXL2c.3903C= (p.Thr1301=)
c.3906C= (p.Thr1302=)
c.3822C= (p.Thr1274=)
c.2355C= (p.Thr785=)
c.3540C= (p.Thr1180=)
c.3126C= (p.Thr1042=)
c.3732C= (p.Thr1244=)
c.4086C= (p.Thr1362=)
2g.25742431G>TCA425354891ASXL2c.3903C>A (p.Thr1301=)
c.3906C>A (p.Thr1302=)
c.3822C>A (p.Thr1274=)
c.2355C>A (p.Thr785=)
c.3540C>A (p.Thr1180=)
c.3126C>A (p.Thr1042=)
c.3732C>A (p.Thr1244=)
c.4086C>A (p.Thr1362=)
dbSNP gnomAD v4
2g.25742432G>ACA346075322ASXL2c.3902C>T (p.Thr1301Ile)
c.3905C>T (p.Thr1302Ile)
c.3821C>T (p.Thr1274Ile)
c.2354C>T (p.Thr785Ile)
c.3539C>T (p.Thr1180Ile)
c.3125C>T (p.Thr1042Ile)
c.3731C>T (p.Thr1244Ile)
c.4085C>T (p.Thr1362Ile)
2g.25742432G>CCA346075324ASXL2c.3902C>G (p.Thr1301Ser)
c.3905C>G (p.Thr1302Ser)
c.3821C>G (p.Thr1274Ser)
c.2354C>G (p.Thr785Ser)
c.3539C>G (p.Thr1180Ser)
c.3125C>G (p.Thr1042Ser)
c.3731C>G (p.Thr1244Ser)
c.4085C>G (p.Thr1362Ser)
2g.25742432G>TCA346075318ASXL2c.3902C>A (p.Thr1301Asn)
c.3905C>A (p.Thr1302Asn)
c.3821C>A (p.Thr1274Asn)
c.2354C>A (p.Thr785Asn)
c.3539C>A (p.Thr1180Asn)
c.3125C>A (p.Thr1042Asn)
c.3731C>A (p.Thr1244Asn)
c.4085C>A (p.Thr1362Asn)
gnomAD v4
2g.25742433T>ACA346075326ASXL2c.3901A>T (p.Thr1301Ser)
c.3904A>T (p.Thr1302Ser)
c.3820A>T (p.Thr1274Ser)
c.2353A>T (p.Thr785Ser)
c.3538A>T (p.Thr1180Ser)
c.3124A>T (p.Thr1042Ser)
c.3730A>T (p.Thr1244Ser)
c.4084A>T (p.Thr1362Ser)
2g.25742433T>CCA346075329ASXL2c.3901A>G (p.Thr1301Ala)
c.3904A>G (p.Thr1302Ala)
c.3820A>G (p.Thr1274Ala)
c.2353A>G (p.Thr785Ala)
c.3538A>G (p.Thr1180Ala)
c.3124A>G (p.Thr1042Ala)
c.3730A>G (p.Thr1244Ala)
c.4084A>G (p.Thr1362Ala)
ClinVar gnomAD v4
2g.25742433T>GCA1557400ASXL2c.3901A>C (p.Thr1301Pro)
c.3904A>C (p.Thr1302Pro)
c.3820A>C (p.Thr1274Pro)
c.2353A>C (p.Thr785Pro)
c.3538A>C (p.Thr1180Pro)
c.3124A>C (p.Thr1042Pro)
c.3730A>C (p.Thr1244Pro)
c.4084A>C (p.Thr1362Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742433T=CA1239490468ASXL2c.3901A= (p.Thr1301=)
c.3904A= (p.Thr1302=)
c.3820A= (p.Thr1274=)
c.2353A= (p.Thr785=)
c.3538A= (p.Thr1180=)
c.3124A= (p.Thr1042=)
c.3730A= (p.Thr1244=)
c.4084A= (p.Thr1362=)
2g.25742434G>ACA425354902ASXL2c.3900C>T (p.Pro1300=)
c.3903C>T (p.Pro1301=)
c.3819C>T (p.Pro1273=)
c.2352C>T (p.Pro784=)
c.3537C>T (p.Pro1179=)
c.3123C>T (p.Pro1041=)
c.3729C>T (p.Pro1243=)
c.4083C>T (p.Pro1361=)
dbSNP gnomAD v2 gnomAD v4
2g.25742434G>CCA425354906ASXL2c.3900C>G (p.Pro1300=)
c.3903C>G (p.Pro1301=)
c.3819C>G (p.Pro1273=)
c.2352C>G (p.Pro784=)
c.3537C>G (p.Pro1179=)
c.3123C>G (p.Pro1041=)
c.3729C>G (p.Pro1243=)
c.4083C>G (p.Pro1361=)
2g.25742434G=CA1239490469ASXL2c.3900C= (p.Pro1300=)
c.3903C= (p.Pro1301=)
c.3819C= (p.Pro1273=)
c.2352C= (p.Pro784=)
c.3537C= (p.Pro1179=)
c.3123C= (p.Pro1041=)
c.3729C= (p.Pro1243=)
c.4083C= (p.Pro1361=)
2g.25742434G>TCA425354907ASXL2c.3900C>A (p.Pro1300=)
c.3903C>A (p.Pro1301=)
c.3819C>A (p.Pro1273=)
c.2352C>A (p.Pro784=)
c.3537C>A (p.Pro1179=)
c.3123C>A (p.Pro1041=)
c.3729C>A (p.Pro1243=)
c.4083C>A (p.Pro1361=)
2g.25742435G>ACA43734282ASXL2c.3899C>T (p.Pro1300Leu)
c.3902C>T (p.Pro1301Leu)
c.3818C>T (p.Pro1273Leu)
c.2351C>T (p.Pro784Leu)
c.3536C>T (p.Pro1179Leu)
c.3122C>T (p.Pro1041Leu)
c.3728C>T (p.Pro1243Leu)
c.4082C>T (p.Pro1361Leu)
dbSNP gnomAD v3 gnomAD v4
2g.25742435G>CCA346075335ASXL2c.3899C>G (p.Pro1300Arg)
c.3902C>G (p.Pro1301Arg)
c.3818C>G (p.Pro1273Arg)
c.2351C>G (p.Pro784Arg)
c.3536C>G (p.Pro1179Arg)
c.3122C>G (p.Pro1041Arg)
c.3728C>G (p.Pro1243Arg)
c.4082C>G (p.Pro1361Arg)
2g.25742435G=CA1239490470ASXL2c.3899C= (p.Pro1300=)
c.3902C= (p.Pro1301=)
c.3818C= (p.Pro1273=)
c.2351C= (p.Pro784=)
c.3536C= (p.Pro1179=)
c.3122C= (p.Pro1041=)
c.3728C= (p.Pro1243=)
c.4082C= (p.Pro1361=)
2g.25742435G>TCA346075338ASXL2c.3899C>A (p.Pro1300His)
c.3902C>A (p.Pro1301His)
c.3818C>A (p.Pro1273His)
c.2351C>A (p.Pro784His)
c.3536C>A (p.Pro1179His)
c.3122C>A (p.Pro1041His)
c.3728C>A (p.Pro1243His)
c.4082C>A (p.Pro1361His)
gnomAD v4
2g.25742436G>ACA43734285ASXL2c.3898C>T (p.Pro1300Ser)
c.3901C>T (p.Pro1301Ser)
c.3817C>T (p.Pro1273Ser)
c.2350C>T (p.Pro784Ser)
c.3535C>T (p.Pro1179Ser)
c.3121C>T (p.Pro1041Ser)
c.3727C>T (p.Pro1243Ser)
c.4081C>T (p.Pro1361Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742436G>CCA346075341ASXL2c.3898C>G (p.Pro1300Ala)
c.3901C>G (p.Pro1301Ala)
c.3817C>G (p.Pro1273Ala)
c.2350C>G (p.Pro784Ala)
c.3535C>G (p.Pro1179Ala)
c.3121C>G (p.Pro1041Ala)
c.3727C>G (p.Pro1243Ala)
c.4081C>G (p.Pro1361Ala)
gnomAD v4
2g.25742436G=CA1239490471ASXL2c.3898C= (p.Pro1300=)
c.3901C= (p.Pro1301=)
c.3817C= (p.Pro1273=)
c.2350C= (p.Pro784=)
c.3535C= (p.Pro1179=)
c.3121C= (p.Pro1041=)
c.3727C= (p.Pro1243=)
c.4081C= (p.Pro1361=)
2g.25742436G>TCA1557401ASXL2c.3898C>A (p.Pro1300Thr)
c.3901C>A (p.Pro1301Thr)
c.3817C>A (p.Pro1273Thr)
c.2350C>A (p.Pro784Thr)
c.3535C>A (p.Pro1179Thr)
c.3121C>A (p.Pro1041Thr)
c.3727C>A (p.Pro1243Thr)
c.4081C>A (p.Pro1361Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742437G>ACA1557402ASXL2c.3897C>T (p.Ser1299=)
c.3900C>T (p.Ser1300=)
c.3816C>T (p.Ser1272=)
c.2349C>T (p.Ser783=)
c.3534C>T (p.Ser1178=)
c.3120C>T (p.Ser1040=)
c.3726C>T (p.Ser1242=)
c.4080C>T (p.Ser1360=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742437G>CCA346075356ASXL2c.3897C>G (p.Ser1299Arg)
c.3900C>G (p.Ser1300Arg)
c.3816C>G (p.Ser1272Arg)
c.2349C>G (p.Ser783Arg)
c.3534C>G (p.Ser1178Arg)
c.3120C>G (p.Ser1040Arg)
c.3726C>G (p.Ser1242Arg)
c.4080C>G (p.Ser1360Arg)
gnomAD v4
2g.25742437G=CA1239490472ASXL2c.3897C= (p.Ser1299=)
c.3900C= (p.Ser1300=)
c.3816C= (p.Ser1272=)
c.2349C= (p.Ser783=)
c.3534C= (p.Ser1178=)
c.3120C= (p.Ser1040=)
c.3726C= (p.Ser1242=)
c.4080C= (p.Ser1360=)
2g.25742437G>TCA346075358ASXL2c.3897C>A (p.Ser1299Arg)
c.3900C>A (p.Ser1300Arg)
c.3816C>A (p.Ser1272Arg)
c.2349C>A (p.Ser783Arg)
c.3534C>A (p.Ser1178Arg)
c.3120C>A (p.Ser1040Arg)
c.3726C>A (p.Ser1242Arg)
c.4080C>A (p.Ser1360Arg)
gnomAD v4
2g.25742437_25742438insGGCCCA2576695355ASXL2c.3896_3897insGGCC (p.Ser1299ArgfsTer30)
c.3899_3900insGGCC (p.Ser1300ArgfsTer30)
c.3815_3816insGGCC (p.Ser1272ArgfsTer30)
c.2348_2349insGGCC (p.Ser783ArgfsTer30)
c.3533_3534insGGCC (p.Ser1178ArgfsTer30)
c.3119_3120insGGCC (p.Ser1040ArgfsTer30)
c.3725_3726insGGCC (p.Ser1242ArgfsTer30)
c.4079_4080insGGCC (p.Ser1360ArgfsTer30)
2g.25742437_25742438insGGGCCA2576695354ASXL2c.3896_3897insGCCC (p.Ser1299ArgfsTer30)
c.3899_3900insGCCC (p.Ser1300ArgfsTer30)
c.3815_3816insGCCC (p.Ser1272ArgfsTer30)
c.2348_2349insGCCC (p.Ser783ArgfsTer30)
c.3533_3534insGCCC (p.Ser1178ArgfsTer30)
c.3119_3120insGCCC (p.Ser1040ArgfsTer30)
c.3725_3726insGCCC (p.Ser1242ArgfsTer30)
c.4079_4080insGCCC (p.Ser1360ArgfsTer30)
2g.25742438C>ACA346075362ASXL2c.3896G>T (p.Ser1299Ile)
c.3899G>T (p.Ser1300Ile)
c.3815G>T (p.Ser1272Ile)
c.2348G>T (p.Ser783Ile)
c.3533G>T (p.Ser1178Ile)
c.3119G>T (p.Ser1040Ile)
c.3725G>T (p.Ser1242Ile)
c.4079G>T (p.Ser1360Ile)
2g.25742438C>GCA346075364ASXL2c.3896G>C (p.Ser1299Thr)
c.3899G>C (p.Ser1300Thr)
c.3815G>C (p.Ser1272Thr)
c.2348G>C (p.Ser783Thr)
c.3533G>C (p.Ser1178Thr)
c.3119G>C (p.Ser1040Thr)
c.3725G>C (p.Ser1242Thr)
c.4079G>C (p.Ser1360Thr)
2g.25742438C>TCA346075367ASXL2c.3896G>A (p.Ser1299Asn)
c.3899G>A (p.Ser1300Asn)
c.3815G>A (p.Ser1272Asn)
c.2348G>A (p.Ser783Asn)
c.3533G>A (p.Ser1178Asn)
c.3119G>A (p.Ser1040Asn)
c.3725G>A (p.Ser1242Asn)
c.4079G>A (p.Ser1360Asn)
COSMIC COSMIC
2g.25742438_25742439insCCCA2576695356ASXL2c.3896_3897insGG (p.Ser1299ArgfsTer25)
c.3899_3900insGG (p.Ser1300ArgfsTer25)
c.3815_3816insGG (p.Ser1272ArgfsTer25)
c.2348_2349insGG (p.Ser783ArgfsTer25)
c.3533_3534insGG (p.Ser1178ArgfsTer25)
c.3119_3120insGG (p.Ser1040ArgfsTer25)
c.3725_3726insGG (p.Ser1242ArgfsTer25)
c.4079_4080insGG (p.Ser1360ArgfsTer25)
2g.25742438dupCA2576695357ASXL2c.3896dup (p.Ser1299ArgfsTer29)
c.3899dup (p.Ser1300ArgfsTer29)
c.3815dup (p.Ser1272ArgfsTer29)
c.2348dup (p.Ser783ArgfsTer29)
c.3533dup (p.Ser1178ArgfsTer29)
c.3119dup (p.Ser1040ArgfsTer29)
c.3725dup (p.Ser1242ArgfsTer29)
c.4079dup (p.Ser1360ArgfsTer29)
2g.25742439T>ACA346075371ASXL2c.3895A>T (p.Ser1299Cys)
c.3898A>T (p.Ser1300Cys)
c.3814A>T (p.Ser1272Cys)
c.2347A>T (p.Ser783Cys)
c.3532A>T (p.Ser1178Cys)
c.3118A>T (p.Ser1040Cys)
c.3724A>T (p.Ser1242Cys)
c.4078A>T (p.Ser1360Cys)
2g.25742439T>CCA346075377ASXL2c.3895A>G (p.Ser1299Gly)
c.3898A>G (p.Ser1300Gly)
c.3814A>G (p.Ser1272Gly)
c.2347A>G (p.Ser783Gly)
c.3532A>G (p.Ser1178Gly)
c.3118A>G (p.Ser1040Gly)
c.3724A>G (p.Ser1242Gly)
c.4078A>G (p.Ser1360Gly)
dbSNP gnomAD v2 gnomAD v4
2g.25742439T>GCA346075373ASXL2c.3895A>C (p.Ser1299Arg)
c.3898A>C (p.Ser1300Arg)
c.3814A>C (p.Ser1272Arg)
c.2347A>C (p.Ser783Arg)
c.3532A>C (p.Ser1178Arg)
c.3118A>C (p.Ser1040Arg)
c.3724A>C (p.Ser1242Arg)
c.4078A>C (p.Ser1360Arg)
2g.25742439T=CA1239490473ASXL2c.3895A= (p.Ser1299=)
c.3898A= (p.Ser1300=)
c.3814A= (p.Ser1272=)
c.2347A= (p.Ser783=)
c.3532A= (p.Ser1178=)
c.3118A= (p.Ser1040=)
c.3724A= (p.Ser1242=)
c.4078A= (p.Ser1360=)
2g.25742439_25742440insAGATCGGAAGAGCCA2533243214ASXL2c.3894_3895insGCTCTTCCGATCT (p.Ser1299AlafsTer5)
c.3897_3898insGCTCTTCCGATCT (p.Ser1300AlafsTer5)
c.3813_3814insGCTCTTCCGATCT (p.Ser1272AlafsTer5)
c.2346_2347insGCTCTTCCGATCT (p.Ser783AlafsTer5)
c.3531_3532insGCTCTTCCGATCT (p.Ser1178AlafsTer5)
c.3117_3118insGCTCTTCCGATCT (p.Ser1040AlafsTer5)
c.3723_3724insGCTCTTCCGATCT (p.Ser1242AlafsTer5)
c.4077_4078insGCTCTTCCGATCT (p.Ser1360AlafsTer5)
2g.25742440G>ACA425354920ASXL2c.3894C>T (p.Asp1298=)
c.3897C>T (p.Asp1299=)
c.3813C>T (p.Asp1271=)
c.2346C>T (p.Asp782=)
c.3531C>T (p.Asp1177=)
c.3117C>T (p.Asp1039=)
c.3723C>T (p.Asp1241=)
c.4077C>T (p.Asp1359=)
gnomAD v4
2g.25742440G>CCA346075379ASXL2c.3894C>G (p.Asp1298Glu)
c.3897C>G (p.Asp1299Glu)
c.3813C>G (p.Asp1271Glu)
c.2346C>G (p.Asp782Glu)
c.3531C>G (p.Asp1177Glu)
c.3117C>G (p.Asp1039Glu)
c.3723C>G (p.Asp1241Glu)
c.4077C>G (p.Asp1359Glu)
2g.25742440G>TCA346075381ASXL2c.3894C>A (p.Asp1298Glu)
c.3897C>A (p.Asp1299Glu)
c.3813C>A (p.Asp1271Glu)
c.2346C>A (p.Asp782Glu)
c.3531C>A (p.Asp1177Glu)
c.3117C>A (p.Asp1039Glu)
c.3723C>A (p.Asp1241Glu)
c.4077C>A (p.Asp1359Glu)
2g.25742441T>ACA346075383ASXL2c.3893A>T (p.Asp1298Val)
c.3896A>T (p.Asp1299Val)
c.3812A>T (p.Asp1271Val)
c.2345A>T (p.Asp782Val)
c.3530A>T (p.Asp1177Val)
c.3116A>T (p.Asp1039Val)
c.3722A>T (p.Asp1241Val)
c.4076A>T (p.Asp1359Val)
2g.25742441T>CCA1557403ASXL2c.3893A>G (p.Asp1298Gly)
c.3896A>G (p.Asp1299Gly)
c.3812A>G (p.Asp1271Gly)
c.2345A>G (p.Asp782Gly)
c.3530A>G (p.Asp1177Gly)
c.3116A>G (p.Asp1039Gly)
c.3722A>G (p.Asp1241Gly)
c.4076A>G (p.Asp1359Gly)
dbSNP ExAC gnomAD v3 gnomAD v4
2g.25742441T>GCA346075388ASXL2c.3893A>C (p.Asp1298Ala)
c.3896A>C (p.Asp1299Ala)
c.3812A>C (p.Asp1271Ala)
c.2345A>C (p.Asp782Ala)
c.3530A>C (p.Asp1177Ala)
c.3116A>C (p.Asp1039Ala)
c.3722A>C (p.Asp1241Ala)
c.4076A>C (p.Asp1359Ala)
2g.25742441T=CA1239490474ASXL2c.3893A= (p.Asp1298=)
c.3896A= (p.Asp1299=)
c.3812A= (p.Asp1271=)
c.2345A= (p.Asp782=)
c.3530A= (p.Asp1177=)
c.3116A= (p.Asp1039=)
c.3722A= (p.Asp1241=)
c.4076A= (p.Asp1359=)
2g.25742442C>ACA346075393ASXL2c.3892G>T (p.Asp1298Tyr)
c.3895G>T (p.Asp1299Tyr)
c.3811G>T (p.Asp1271Tyr)
c.2344G>T (p.Asp782Tyr)
c.3529G>T (p.Asp1177Tyr)
c.3115G>T (p.Asp1039Tyr)
c.3721G>T (p.Asp1241Tyr)
c.4075G>T (p.Asp1359Tyr)
2g.25742442C>GCA346075395ASXL2c.3892G>C (p.Asp1298His)
c.3895G>C (p.Asp1299His)
c.3811G>C (p.Asp1271His)
c.2344G>C (p.Asp782His)
c.3529G>C (p.Asp1177His)
c.3115G>C (p.Asp1039His)
c.3721G>C (p.Asp1241His)
c.4075G>C (p.Asp1359His)
2g.25742442C>TCA346075396ASXL2c.3892G>A (p.Asp1298Asn)
c.3895G>A (p.Asp1299Asn)
c.3811G>A (p.Asp1271Asn)
c.2344G>A (p.Asp782Asn)
c.3529G>A (p.Asp1177Asn)
c.3115G>A (p.Asp1039Asn)
c.3721G>A (p.Asp1241Asn)
c.4075G>A (p.Asp1359Asn)
gnomAD v4
2g.25742443T>ACA425354928ASXL2c.3891A>T (p.Ala1297=)
c.3894A>T (p.Ala1298=)
c.3810A>T (p.Ala1270=)
c.2343A>T (p.Ala781=)
c.3528A>T (p.Ala1176=)
c.3114A>T (p.Ala1038=)
c.3720A>T (p.Ala1240=)
c.4074A>T (p.Ala1358=)
2g.25742443T>CCA1557404ASXL2c.3891A>G (p.Ala1297=)
c.3894A>G (p.Ala1298=)
c.3810A>G (p.Ala1270=)
c.2343A>G (p.Ala781=)
c.3528A>G (p.Ala1176=)
c.3114A>G (p.Ala1038=)
c.3720A>G (p.Ala1240=)
c.4074A>G (p.Ala1358=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742443T>GCA425354929ASXL2c.3891A>C (p.Ala1297=)
c.3894A>C (p.Ala1298=)
c.3810A>C (p.Ala1270=)
c.2343A>C (p.Ala781=)
c.3528A>C (p.Ala1176=)
c.3114A>C (p.Ala1038=)
c.3720A>C (p.Ala1240=)
c.4074A>C (p.Ala1358=)
2g.25742443T=CA1239490475ASXL2c.3891A= (p.Ala1297=)
c.3894A= (p.Ala1298=)
c.3810A= (p.Ala1270=)
c.2343A= (p.Ala781=)
c.3528A= (p.Ala1176=)
c.3114A= (p.Ala1038=)
c.3720A= (p.Ala1240=)
c.4074A= (p.Ala1358=)
2g.25742444G>ACA346075398ASXL2c.3890C>T (p.Ala1297Val)
c.3893C>T (p.Ala1298Val)
c.3809C>T (p.Ala1270Val)
c.2342C>T (p.Ala781Val)
c.3527C>T (p.Ala1176Val)
c.3113C>T (p.Ala1038Val)
c.3719C>T (p.Ala1240Val)
c.4073C>T (p.Ala1358Val)
gnomAD v4
2g.25742444G>CCA346075400ASXL2c.3890C>G (p.Ala1297Gly)
c.3893C>G (p.Ala1298Gly)
c.3809C>G (p.Ala1270Gly)
c.2342C>G (p.Ala781Gly)
c.3527C>G (p.Ala1176Gly)
c.3113C>G (p.Ala1038Gly)
c.3719C>G (p.Ala1240Gly)
c.4073C>G (p.Ala1358Gly)
2g.25742444G>TCA346075397ASXL2c.3890C>A (p.Ala1297Glu)
c.3893C>A (p.Ala1298Glu)
c.3809C>A (p.Ala1270Glu)
c.2342C>A (p.Ala781Glu)
c.3527C>A (p.Ala1176Glu)
c.3113C>A (p.Ala1038Glu)
c.3719C>A (p.Ala1240Glu)
c.4073C>A (p.Ala1358Glu)
gnomAD v4
2g.25742445C>ACA346075402ASXL2c.3889G>T (p.Ala1297Ser)
c.3892G>T (p.Ala1298Ser)
c.3808G>T (p.Ala1270Ser)
c.2341G>T (p.Ala781Ser)
c.3526G>T (p.Ala1176Ser)
c.3112G>T (p.Ala1038Ser)
c.3718G>T (p.Ala1240Ser)
c.4072G>T (p.Ala1358Ser)
2g.25742445C>GCA346075405ASXL2c.3889G>C (p.Ala1297Pro)
c.3892G>C (p.Ala1298Pro)
c.3808G>C (p.Ala1270Pro)
c.2341G>C (p.Ala781Pro)
c.3526G>C (p.Ala1176Pro)
c.3112G>C (p.Ala1038Pro)
c.3718G>C (p.Ala1240Pro)
c.4072G>C (p.Ala1358Pro)
ClinVar
2g.25742445C>TCA346075407ASXL2c.3889G>A (p.Ala1297Thr)
c.3892G>A (p.Ala1298Thr)
c.3808G>A (p.Ala1270Thr)
c.2341G>A (p.Ala781Thr)
c.3526G>A (p.Ala1176Thr)
c.3112G>A (p.Ala1038Thr)
c.3718G>A (p.Ala1240Thr)
c.4072G>A (p.Ala1358Thr)
gnomAD v4
2g.25742446A=CA1239490476ASXL2c.3888T= (p.Pro1296=)
c.3891T= (p.Pro1297=)
c.3807T= (p.Pro1269=)
c.2340T= (p.Pro780=)
c.3525T= (p.Pro1175=)
c.3111T= (p.Pro1037=)
c.3717T= (p.Pro1239=)
c.4071T= (p.Pro1357=)
2g.25742446A>CCA1557405ASXL2c.3888T>G (p.Pro1296=)
c.3891T>G (p.Pro1297=)
c.3807T>G (p.Pro1269=)
c.2340T>G (p.Pro780=)
c.3525T>G (p.Pro1175=)
c.3111T>G (p.Pro1037=)
c.3717T>G (p.Pro1239=)
c.4071T>G (p.Pro1357=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742446A>GCA425354940ASXL2c.3888T>C (p.Pro1296=)
c.3891T>C (p.Pro1297=)
c.3807T>C (p.Pro1269=)
c.2340T>C (p.Pro780=)
c.3525T>C (p.Pro1175=)
c.3111T>C (p.Pro1037=)
c.3717T>C (p.Pro1239=)
c.4071T>C (p.Pro1357=)
2g.25742446A>TCA425354941ASXL2c.3888T>A (p.Pro1296=)
c.3891T>A (p.Pro1297=)
c.3807T>A (p.Pro1269=)
c.2340T>A (p.Pro780=)
c.3525T>A (p.Pro1175=)
c.3111T>A (p.Pro1037=)
c.3717T>A (p.Pro1239=)
c.4071T>A (p.Pro1357=)
2g.25742447G>ACA346075414ASXL2c.3887C>T (p.Pro1296Leu)
c.3890C>T (p.Pro1297Leu)
c.3806C>T (p.Pro1269Leu)
c.2339C>T (p.Pro780Leu)
c.3524C>T (p.Pro1175Leu)
c.3110C>T (p.Pro1037Leu)
c.3716C>T (p.Pro1239Leu)
c.4070C>T (p.Pro1357Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742447G>CCA346075416ASXL2c.3887C>G (p.Pro1296Arg)
c.3890C>G (p.Pro1297Arg)
c.3806C>G (p.Pro1269Arg)
c.2339C>G (p.Pro780Arg)
c.3524C>G (p.Pro1175Arg)
c.3110C>G (p.Pro1037Arg)
c.3716C>G (p.Pro1239Arg)
c.4070C>G (p.Pro1357Arg)
2g.25742447G=CA1239490477ASXL2c.3887C= (p.Pro1296=)
c.3890C= (p.Pro1297=)
c.3806C= (p.Pro1269=)
c.2339C= (p.Pro780=)
c.3524C= (p.Pro1175=)
c.3110C= (p.Pro1037=)
c.3716C= (p.Pro1239=)
c.4070C= (p.Pro1357=)
2g.25742447G>TCA346075418ASXL2c.3887C>A (p.Pro1296His)
c.3890C>A (p.Pro1297His)
c.3806C>A (p.Pro1269His)
c.2339C>A (p.Pro780His)
c.3524C>A (p.Pro1175His)
c.3110C>A (p.Pro1037His)
c.3716C>A (p.Pro1239His)
c.4070C>A (p.Pro1357His)
ClinVar
2g.25742448G>ACA346075424ASXL2c.3886C>T (p.Pro1296Ser)
c.3889C>T (p.Pro1297Ser)
c.3805C>T (p.Pro1269Ser)
c.2338C>T (p.Pro780Ser)
c.3523C>T (p.Pro1175Ser)
c.3109C>T (p.Pro1037Ser)
c.3715C>T (p.Pro1239Ser)
c.4069C>T (p.Pro1357Ser)
dbSNP gnomAD v3 gnomAD v4
2g.25742448G>CCA346075425ASXL2c.3886C>G (p.Pro1296Ala)
c.3889C>G (p.Pro1297Ala)
c.3805C>G (p.Pro1269Ala)
c.2338C>G (p.Pro780Ala)
c.3523C>G (p.Pro1175Ala)
c.3109C>G (p.Pro1037Ala)
c.3715C>G (p.Pro1239Ala)
c.4069C>G (p.Pro1357Ala)
2g.25742448G=CA1239490478ASXL2c.3886C= (p.Pro1296=)
c.3889C= (p.Pro1297=)
c.3805C= (p.Pro1269=)
c.2338C= (p.Pro780=)
c.3523C= (p.Pro1175=)
c.3109C= (p.Pro1037=)
c.3715C= (p.Pro1239=)
c.4069C= (p.Pro1357=)
2g.25742448G>TCA346075427ASXL2c.3886C>A (p.Pro1296Thr)
c.3889C>A (p.Pro1297Thr)
c.3805C>A (p.Pro1269Thr)
c.2338C>A (p.Pro780Thr)
c.3523C>A (p.Pro1175Thr)
c.3109C>A (p.Pro1037Thr)
c.3715C>A (p.Pro1239Thr)
c.4069C>A (p.Pro1357Thr)
2g.25742449C>ACA425354944ASXL2c.3885G>T (p.Leu1295=)
c.3888G>T (p.Leu1296=)
c.3804G>T (p.Leu1268=)
c.2337G>T (p.Leu779=)
c.3522G>T (p.Leu1174=)
c.3108G>T (p.Leu1036=)
c.3714G>T (p.Leu1238=)
c.4068G>T (p.Leu1356=)
2g.25742449C>GCA425354945ASXL2c.3885G>C (p.Leu1295=)
c.3888G>C (p.Leu1296=)
c.3804G>C (p.Leu1268=)
c.2337G>C (p.Leu779=)
c.3522G>C (p.Leu1174=)
c.3108G>C (p.Leu1036=)
c.3714G>C (p.Leu1238=)
c.4068G>C (p.Leu1356=)
2g.25742449C>TCA425354946ASXL2c.3885G>A (p.Leu1295=)
c.3888G>A (p.Leu1296=)
c.3804G>A (p.Leu1268=)
c.2337G>A (p.Leu779=)
c.3522G>A (p.Leu1174=)
c.3108G>A (p.Leu1036=)
c.3714G>A (p.Leu1238=)
c.4068G>A (p.Leu1356=)
2g.25742450A>CCA346075429ASXL2c.3884T>G (p.Leu1295Arg)
c.3887T>G (p.Leu1296Arg)
c.3803T>G (p.Leu1268Arg)
c.2336T>G (p.Leu779Arg)
c.3521T>G (p.Leu1174Arg)
c.3107T>G (p.Leu1036Arg)
c.3713T>G (p.Leu1238Arg)
c.4067T>G (p.Leu1356Arg)
2g.25742450A>GCA346075432ASXL2c.3884T>C (p.Leu1295Pro)
c.3887T>C (p.Leu1296Pro)
c.3803T>C (p.Leu1268Pro)
c.2336T>C (p.Leu779Pro)
c.3521T>C (p.Leu1174Pro)
c.3107T>C (p.Leu1036Pro)
c.3713T>C (p.Leu1238Pro)
c.4067T>C (p.Leu1356Pro)
2g.25742450A>TCA346075434ASXL2c.3884T>A (p.Leu1295Gln)
c.3887T>A (p.Leu1296Gln)
c.3803T>A (p.Leu1268Gln)
c.2336T>A (p.Leu779Gln)
c.3521T>A (p.Leu1174Gln)
c.3107T>A (p.Leu1036Gln)
c.3713T>A (p.Leu1238Gln)
c.4067T>A (p.Leu1356Gln)
gnomAD v4
2g.25742451G>ACA425354950ASXL2c.3883C>T (p.Leu1295=)
c.3886C>T (p.Leu1296=)
c.3802C>T (p.Leu1268=)
c.2335C>T (p.Leu779=)
c.3520C>T (p.Leu1174=)
c.3106C>T (p.Leu1036=)
c.3712C>T (p.Leu1238=)
c.4066C>T (p.Leu1356=)
dbSNP
2g.25742451G>CCA346075441ASXL2c.3883C>G (p.Leu1295Val)
c.3886C>G (p.Leu1296Val)
c.3802C>G (p.Leu1268Val)
c.2335C>G (p.Leu779Val)
c.3520C>G (p.Leu1174Val)
c.3106C>G (p.Leu1036Val)
c.3712C>G (p.Leu1238Val)
c.4066C>G (p.Leu1356Val)
2g.25742451G=CA1239490479ASXL2c.3883C= (p.Leu1295=)
c.3886C= (p.Leu1296=)
c.3802C= (p.Leu1268=)
c.2335C= (p.Leu779=)
c.3520C= (p.Leu1174=)
c.3106C= (p.Leu1036=)
c.3712C= (p.Leu1238=)
c.4066C= (p.Leu1356=)
2g.25742451G>TCA346075439ASXL2c.3883C>A (p.Leu1295Met)
c.3886C>A (p.Leu1296Met)
c.3802C>A (p.Leu1268Met)
c.2335C>A (p.Leu779Met)
c.3520C>A (p.Leu1174Met)
c.3106C>A (p.Leu1036Met)
c.3712C>A (p.Leu1238Met)
c.4066C>A (p.Leu1356Met)
2g.25742452A>CCA425354954ASXL2c.3882T>G (p.Pro1294=)
c.3885T>G (p.Pro1295=)
c.3801T>G (p.Pro1267=)
c.2334T>G (p.Pro778=)
c.3519T>G (p.Pro1173=)
c.3105T>G (p.Pro1035=)
c.3711T>G (p.Pro1237=)
c.4065T>G (p.Pro1355=)
2g.25742452A>GCA425354952ASXL2c.3882T>C (p.Pro1294=)
c.3885T>C (p.Pro1295=)
c.3801T>C (p.Pro1267=)
c.2334T>C (p.Pro778=)
c.3519T>C (p.Pro1173=)
c.3105T>C (p.Pro1035=)
c.3711T>C (p.Pro1237=)
c.4065T>C (p.Pro1355=)
2g.25742452A>TCA425354953ASXL2c.3882T>A (p.Pro1294=)
c.3885T>A (p.Pro1295=)
c.3801T>A (p.Pro1267=)
c.2334T>A (p.Pro778=)
c.3519T>A (p.Pro1173=)
c.3105T>A (p.Pro1035=)
c.3711T>A (p.Pro1237=)
c.4065T>A (p.Pro1355=)
2g.25742453G>ACA346075444ASXL2c.3881C>T (p.Pro1294Leu)
c.3884C>T (p.Pro1295Leu)
c.3800C>T (p.Pro1267Leu)
c.2333C>T (p.Pro778Leu)
c.3518C>T (p.Pro1173Leu)
c.3104C>T (p.Pro1035Leu)
c.3710C>T (p.Pro1237Leu)
c.4064C>T (p.Pro1355Leu)
gnomAD v4
2g.25742453G>CCA346075446ASXL2c.3881C>G (p.Pro1294Arg)
c.3884C>G (p.Pro1295Arg)
c.3800C>G (p.Pro1267Arg)
c.2333C>G (p.Pro778Arg)
c.3518C>G (p.Pro1173Arg)
c.3104C>G (p.Pro1035Arg)
c.3710C>G (p.Pro1237Arg)
c.4064C>G (p.Pro1355Arg)
2g.25742453G>TCA346075450ASXL2c.3881C>A (p.Pro1294His)
c.3884C>A (p.Pro1295His)
c.3800C>A (p.Pro1267His)
c.2333C>A (p.Pro778His)
c.3518C>A (p.Pro1173His)
c.3104C>A (p.Pro1035His)
c.3710C>A (p.Pro1237His)
c.4064C>A (p.Pro1355His)
2g.25742454G>ACA346075454ASXL2c.3880C>T (p.Pro1294Ser)
c.3883C>T (p.Pro1295Ser)
c.3799C>T (p.Pro1267Ser)
c.2332C>T (p.Pro778Ser)
c.3517C>T (p.Pro1173Ser)
c.3103C>T (p.Pro1035Ser)
c.3709C>T (p.Pro1237Ser)
c.4063C>T (p.Pro1355Ser)
gnomAD v4
2g.25742454G>CCA346075456ASXL2c.3880C>G (p.Pro1294Ala)
c.3883C>G (p.Pro1295Ala)
c.3799C>G (p.Pro1267Ala)
c.2332C>G (p.Pro778Ala)
c.3517C>G (p.Pro1173Ala)
c.3103C>G (p.Pro1035Ala)
c.3709C>G (p.Pro1237Ala)
c.4063C>G (p.Pro1355Ala)
dbSNP gnomAD v3 gnomAD v4
2g.25742454G=CA1239490480ASXL2c.3880C= (p.Pro1294=)
c.3883C= (p.Pro1295=)
c.3799C= (p.Pro1267=)
c.2332C= (p.Pro778=)
c.3517C= (p.Pro1173=)
c.3103C= (p.Pro1035=)
c.3709C= (p.Pro1237=)
c.4063C= (p.Pro1355=)
2g.25742454G>TCA346075460ASXL2c.3880C>A (p.Pro1294Thr)
c.3883C>A (p.Pro1295Thr)
c.3799C>A (p.Pro1267Thr)
c.2332C>A (p.Pro778Thr)
c.3517C>A (p.Pro1173Thr)
c.3103C>A (p.Pro1035Thr)
c.3709C>A (p.Pro1237Thr)
c.4063C>A (p.Pro1355Thr)
2g.25742455A=CA1239490481ASXL2c.3879T= (p.Leu1293=)
c.3882T= (p.Leu1294=)
c.3798T= (p.Leu1266=)
c.2331T= (p.Leu777=)
c.3516T= (p.Leu1172=)
c.3102T= (p.Leu1034=)
c.3708T= (p.Leu1236=)
c.4062T= (p.Leu1354=)
2g.25742455A>CCA425354959ASXL2c.3879T>G (p.Leu1293=)
c.3882T>G (p.Leu1294=)
c.3798T>G (p.Leu1266=)
c.2331T>G (p.Leu777=)
c.3516T>G (p.Leu1172=)
c.3102T>G (p.Leu1034=)
c.3708T>G (p.Leu1236=)
c.4062T>G (p.Leu1354=)
2g.25742455A>GCA425354964ASXL2c.3879T>C (p.Leu1293=)
c.3882T>C (p.Leu1294=)
c.3798T>C (p.Leu1266=)
c.2331T>C (p.Leu777=)
c.3516T>C (p.Leu1172=)
c.3102T>C (p.Leu1034=)
c.3708T>C (p.Leu1236=)
c.4062T>C (p.Leu1354=)
2g.25742455A>TCA1557406ASXL2c.3879T>A (p.Leu1293=)
c.3882T>A (p.Leu1294=)
c.3798T>A (p.Leu1266=)
c.2331T>A (p.Leu777=)
c.3516T>A (p.Leu1172=)
c.3102T>A (p.Leu1034=)
c.3708T>A (p.Leu1236=)
c.4062T>A (p.Leu1354=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742456A=CA1239490482ASXL2c.3878T= (p.Leu1293=)
c.3881T= (p.Leu1294=)
c.3797T= (p.Leu1266=)
c.2330T= (p.Leu777=)
c.3515T= (p.Leu1172=)
c.3101T= (p.Leu1034=)
c.3707T= (p.Leu1236=)
c.4061T= (p.Leu1354=)
2g.25742456A>CCA346075467ASXL2c.3878T>G (p.Leu1293Arg)
c.3881T>G (p.Leu1294Arg)
c.3797T>G (p.Leu1266Arg)
c.2330T>G (p.Leu777Arg)
c.3515T>G (p.Leu1172Arg)
c.3101T>G (p.Leu1034Arg)
c.3707T>G (p.Leu1236Arg)
c.4061T>G (p.Leu1354Arg)
2g.25742456A>GCA346075470ASXL2c.3878T>C (p.Leu1293Pro)
c.3881T>C (p.Leu1294Pro)
c.3797T>C (p.Leu1266Pro)
c.2330T>C (p.Leu777Pro)
c.3515T>C (p.Leu1172Pro)
c.3101T>C (p.Leu1034Pro)
c.3707T>C (p.Leu1236Pro)
c.4061T>C (p.Leu1354Pro)
dbSNP gnomAD v4
2g.25742456A>TCA346075472ASXL2c.3878T>A (p.Leu1293His)
c.3881T>A (p.Leu1294His)
c.3797T>A (p.Leu1266His)
c.2330T>A (p.Leu777His)
c.3515T>A (p.Leu1172His)
c.3101T>A (p.Leu1034His)
c.3707T>A (p.Leu1236His)
c.4061T>A (p.Leu1354His)
2g.25742457G>ACA43734294ASXL2c.3877C>T (p.Leu1293Phe)
c.3880C>T (p.Leu1294Phe)
c.3796C>T (p.Leu1266Phe)
c.2329C>T (p.Leu777Phe)
c.3514C>T (p.Leu1172Phe)
c.3100C>T (p.Leu1034Phe)
c.3706C>T (p.Leu1236Phe)
c.4060C>T (p.Leu1354Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742457G>CCA346075478ASXL2c.3877C>G (p.Leu1293Val)
c.3880C>G (p.Leu1294Val)
c.3796C>G (p.Leu1266Val)
c.2329C>G (p.Leu777Val)
c.3514C>G (p.Leu1172Val)
c.3100C>G (p.Leu1034Val)
c.3706C>G (p.Leu1236Val)
c.4060C>G (p.Leu1354Val)
COSMIC COSMIC
2g.25742457G=CA1239490483ASXL2c.3877C= (p.Leu1293=)
c.3880C= (p.Leu1294=)
c.3796C= (p.Leu1266=)
c.2329C= (p.Leu777=)
c.3514C= (p.Leu1172=)
c.3100C= (p.Leu1034=)
c.3706C= (p.Leu1236=)
c.4060C= (p.Leu1354=)
2g.25742457G>TCA346075480ASXL2c.3877C>A (p.Leu1293Ile)
c.3880C>A (p.Leu1294Ile)
c.3796C>A (p.Leu1266Ile)
c.2329C>A (p.Leu777Ile)
c.3514C>A (p.Leu1172Ile)
c.3100C>A (p.Leu1034Ile)
c.3706C>A (p.Leu1236Ile)
c.4060C>A (p.Leu1354Ile)
2g.25742458A>CCA425354970ASXL2c.3876T>G (p.Val1292=)
c.3879T>G (p.Val1293=)
c.3795T>G (p.Val1265=)
c.2328T>G (p.Val776=)
c.3513T>G (p.Val1171=)
c.3099T>G (p.Val1033=)
c.3705T>G (p.Val1235=)
c.4059T>G (p.Val1353=)
2g.25742458A>GCA425354972ASXL2c.3876T>C (p.Val1292=)
c.3879T>C (p.Val1293=)
c.3795T>C (p.Val1265=)
c.2328T>C (p.Val776=)
c.3513T>C (p.Val1171=)
c.3099T>C (p.Val1033=)
c.3705T>C (p.Val1235=)
c.4059T>C (p.Val1353=)
2g.25742458A>TCA425354974ASXL2c.3876T>A (p.Val1292=)
c.3879T>A (p.Val1293=)
c.3795T>A (p.Val1265=)
c.2328T>A (p.Val776=)
c.3513T>A (p.Val1171=)
c.3099T>A (p.Val1033=)
c.3705T>A (p.Val1235=)
c.4059T>A (p.Val1353=)
2g.25742459A>CCA346075490ASXL2c.3875T>G (p.Val1292Gly)
c.3878T>G (p.Val1293Gly)
c.3794T>G (p.Val1265Gly)
c.2327T>G (p.Val776Gly)
c.3512T>G (p.Val1171Gly)
c.3098T>G (p.Val1033Gly)
c.3704T>G (p.Val1235Gly)
c.4058T>G (p.Val1353Gly)
2g.25742459A>GCA346075487ASXL2c.3875T>C (p.Val1292Ala)
c.3878T>C (p.Val1293Ala)
c.3794T>C (p.Val1265Ala)
c.2327T>C (p.Val776Ala)
c.3512T>C (p.Val1171Ala)
c.3098T>C (p.Val1033Ala)
c.3704T>C (p.Val1235Ala)
c.4058T>C (p.Val1353Ala)
2g.25742459A>TCA346075484ASXL2c.3875T>A (p.Val1292Asp)
c.3878T>A (p.Val1293Asp)
c.3794T>A (p.Val1265Asp)
c.2327T>A (p.Val776Asp)
c.3512T>A (p.Val1171Asp)
c.3098T>A (p.Val1033Asp)
c.3704T>A (p.Val1235Asp)
c.4058T>A (p.Val1353Asp)
2g.25742460C>ACA346075495ASXL2c.3874G>T (p.Val1292Phe)
c.3877G>T (p.Val1293Phe)
c.3793G>T (p.Val1265Phe)
c.2326G>T (p.Val776Phe)
c.3511G>T (p.Val1171Phe)
c.3097G>T (p.Val1033Phe)
c.3703G>T (p.Val1235Phe)
c.4057G>T (p.Val1353Phe)
gnomAD v4
2g.25742460C=CA1239490484ASXL2c.3874G= (p.Val1292=)
c.3877G= (p.Val1293=)
c.3793G= (p.Val1265=)
c.2326G= (p.Val776=)
c.3511G= (p.Val1171=)
c.3097G= (p.Val1033=)
c.3703G= (p.Val1235=)
c.4057G= (p.Val1353=)
2g.25742460C>GCA43734296ASXL2c.3874G>C (p.Val1292Leu)
c.3877G>C (p.Val1293Leu)
c.3793G>C (p.Val1265Leu)
c.2326G>C (p.Val776Leu)
c.3511G>C (p.Val1171Leu)
c.3097G>C (p.Val1033Leu)
c.3703G>C (p.Val1235Leu)
c.4057G>C (p.Val1353Leu)
dbSNP
2g.25742460C>TCA346075498ASXL2c.3874G>A (p.Val1292Ile)
c.3877G>A (p.Val1293Ile)
c.3793G>A (p.Val1265Ile)
c.2326G>A (p.Val776Ile)
c.3511G>A (p.Val1171Ile)
c.3097G>A (p.Val1033Ile)
c.3703G>A (p.Val1235Ile)
c.4057G>A (p.Val1353Ile)
2g.25742461A=CA1239490485ASXL2c.3873T= (p.Thr1291=)
c.3876T= (p.Thr1292=)
c.3792T= (p.Thr1264=)
c.2325T= (p.Thr775=)
c.3510T= (p.Thr1170=)
c.3096T= (p.Thr1032=)
c.3702T= (p.Thr1234=)
c.4056T= (p.Thr1352=)
2g.25742461A>CCA425354980ASXL2c.3873T>G (p.Thr1291=)
c.3876T>G (p.Thr1292=)
c.3792T>G (p.Thr1264=)
c.2325T>G (p.Thr775=)
c.3510T>G (p.Thr1170=)
c.3096T>G (p.Thr1032=)
c.3702T>G (p.Thr1234=)
c.4056T>G (p.Thr1352=)
2g.25742461A>GCA425354981ASXL2c.3873T>C (p.Thr1291=)
c.3876T>C (p.Thr1292=)
c.3792T>C (p.Thr1264=)
c.2325T>C (p.Thr775=)
c.3510T>C (p.Thr1170=)
c.3096T>C (p.Thr1032=)
c.3702T>C (p.Thr1234=)
c.4056T>C (p.Thr1352=)
dbSNP gnomAD v2 gnomAD v4
2g.25742461A>TCA425354982ASXL2c.3873T>A (p.Thr1291=)
c.3876T>A (p.Thr1292=)
c.3792T>A (p.Thr1264=)
c.2325T>A (p.Thr775=)
c.3510T>A (p.Thr1170=)
c.3096T>A (p.Thr1032=)
c.3702T>A (p.Thr1234=)
c.4056T>A (p.Thr1352=)
2g.25742462G>ACA1557407ASXL2c.3872C>T (p.Thr1291Ile)
c.3875C>T (p.Thr1292Ile)
c.3791C>T (p.Thr1264Ile)
c.2324C>T (p.Thr775Ile)
c.3509C>T (p.Thr1170Ile)
c.3095C>T (p.Thr1032Ile)
c.3701C>T (p.Thr1234Ile)
c.4055C>T (p.Thr1352Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742462G>CCA346075506ASXL2c.3872C>G (p.Thr1291Ser)
c.3875C>G (p.Thr1292Ser)
c.3791C>G (p.Thr1264Ser)
c.2324C>G (p.Thr775Ser)
c.3509C>G (p.Thr1170Ser)
c.3095C>G (p.Thr1032Ser)
c.3701C>G (p.Thr1234Ser)
c.4055C>G (p.Thr1352Ser)
dbSNP
2g.25742462G=CA1239490486ASXL2c.3872C= (p.Thr1291=)
c.3875C= (p.Thr1292=)
c.3791C= (p.Thr1264=)
c.2324C= (p.Thr775=)
c.3509C= (p.Thr1170=)
c.3095C= (p.Thr1032=)
c.3701C= (p.Thr1234=)
c.4055C= (p.Thr1352=)
2g.25742462G>TCA346075508ASXL2c.3872C>A (p.Thr1291Asn)
c.3875C>A (p.Thr1292Asn)
c.3791C>A (p.Thr1264Asn)
c.2324C>A (p.Thr775Asn)
c.3509C>A (p.Thr1170Asn)
c.3095C>A (p.Thr1032Asn)
c.3701C>A (p.Thr1234Asn)
c.4055C>A (p.Thr1352Asn)
2g.25742463T>ACA346075510ASXL2c.3871A>T (p.Thr1291Ser)
c.3874A>T (p.Thr1292Ser)
c.3790A>T (p.Thr1264Ser)
c.2323A>T (p.Thr775Ser)
c.3508A>T (p.Thr1170Ser)
c.3094A>T (p.Thr1032Ser)
c.3700A>T (p.Thr1234Ser)
c.4054A>T (p.Thr1352Ser)
2g.25742463T>CCA1557408ASXL2c.3871A>G (p.Thr1291Ala)
c.3874A>G (p.Thr1292Ala)
c.3790A>G (p.Thr1264Ala)
c.2323A>G (p.Thr775Ala)
c.3508A>G (p.Thr1170Ala)
c.3094A>G (p.Thr1032Ala)
c.3700A>G (p.Thr1234Ala)
c.4054A>G (p.Thr1352Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742463T>GCA346075513ASXL2c.3871A>C (p.Thr1291Pro)
c.3874A>C (p.Thr1292Pro)
c.3790A>C (p.Thr1264Pro)
c.2323A>C (p.Thr775Pro)
c.3508A>C (p.Thr1170Pro)
c.3094A>C (p.Thr1032Pro)
c.3700A>C (p.Thr1234Pro)
c.4054A>C (p.Thr1352Pro)
2g.25742463T=CA1239490487ASXL2c.3871A= (p.Thr1291=)
c.3874A= (p.Thr1292=)
c.3790A= (p.Thr1264=)
c.2323A= (p.Thr775=)
c.3508A= (p.Thr1170=)
c.3094A= (p.Thr1032=)
c.3700A= (p.Thr1234=)
c.4054A= (p.Thr1352=)
2g.25742465_25742488dupCA2658189303ASXL2c.3848_3871dup (p.Ser1290_Thr1291insSerSerProGluLeuPheSerSer)
c.3851_3874dup (p.Ser1291_Thr1292insSerSerProGluLeuPheSerSer)
c.3767_3790dup (p.Ser1263_Thr1264insSerSerProGluLeuPheSerSer)
c.2300_2323dup (p.Ser774_Thr775insSerSerProGluLeuPheSerSer)
c.3485_3508dup (p.Ser1169_Thr1170insSerSerProGluLeuPheSerSer)
c.3071_3094dup (p.Ser1031_Thr1032insSerSerProGluLeuPheSerSer)
c.3677_3700dup (p.Ser1233_Thr1234insSerSerProGluLeuPheSerSer)
c.4031_4054dup (p.Ser1351_Thr1352insSerSerProGluLeuPheSerSer)
gnomAD v4
2g.25742464A>CCA425354988ASXL2c.3870T>G (p.Ser1290=)
c.3873T>G (p.Ser1291=)
c.3789T>G (p.Ser1263=)
c.2322T>G (p.Ser774=)
c.3507T>G (p.Ser1169=)
c.3093T>G (p.Ser1031=)
c.3699T>G (p.Ser1233=)
c.4053T>G (p.Ser1351=)
2g.25742464A>GCA425354989ASXL2c.3870T>C (p.Ser1290=)
c.3873T>C (p.Ser1291=)
c.3789T>C (p.Ser1263=)
c.2322T>C (p.Ser774=)
c.3507T>C (p.Ser1169=)
c.3093T>C (p.Ser1031=)
c.3699T>C (p.Ser1233=)
c.4053T>C (p.Ser1351=)
2g.25742464A>TCA425354990ASXL2c.3870T>A (p.Ser1290=)
c.3873T>A (p.Ser1291=)
c.3789T>A (p.Ser1263=)
c.2322T>A (p.Ser774=)
c.3507T>A (p.Ser1169=)
c.3093T>A (p.Ser1031=)
c.3699T>A (p.Ser1233=)
c.4053T>A (p.Ser1351=)
2g.25742465G>ACA346075516ASXL2c.3869C>T (p.Ser1290Phe)
c.3872C>T (p.Ser1291Phe)
c.3788C>T (p.Ser1263Phe)
c.2321C>T (p.Ser774Phe)
c.3506C>T (p.Ser1169Phe)
c.3092C>T (p.Ser1031Phe)
c.3698C>T (p.Ser1233Phe)
c.4052C>T (p.Ser1351Phe)
2g.25742465G>CCA346075518ASXL2c.3869C>G (p.Ser1290Cys)
c.3872C>G (p.Ser1291Cys)
c.3788C>G (p.Ser1263Cys)
c.2321C>G (p.Ser774Cys)
c.3506C>G (p.Ser1169Cys)
c.3092C>G (p.Ser1031Cys)
c.3698C>G (p.Ser1233Cys)
c.4052C>G (p.Ser1351Cys)
dbSNP gnomAD v3 gnomAD v4
2g.25742465G=CA1239490488ASXL2c.3869C= (p.Ser1290=)
c.3872C= (p.Ser1291=)
c.3788C= (p.Ser1263=)
c.2321C= (p.Ser774=)
c.3506C= (p.Ser1169=)
c.3092C= (p.Ser1031=)
c.3698C= (p.Ser1233=)
c.4052C= (p.Ser1351=)
2g.25742465G>TCA346075519ASXL2c.3869C>A (p.Ser1290Tyr)
c.3872C>A (p.Ser1291Tyr)
c.3788C>A (p.Ser1263Tyr)
c.2321C>A (p.Ser774Tyr)
c.3506C>A (p.Ser1169Tyr)
c.3092C>A (p.Ser1031Tyr)
c.3698C>A (p.Ser1233Tyr)
c.4052C>A (p.Ser1351Tyr)
2g.25742466A>CCA346075521ASXL2c.3868T>G (p.Ser1290Ala)
c.3871T>G (p.Ser1291Ala)
c.3787T>G (p.Ser1263Ala)
c.2320T>G (p.Ser774Ala)
c.3505T>G (p.Ser1169Ala)
c.3091T>G (p.Ser1031Ala)
c.3697T>G (p.Ser1233Ala)
c.4051T>G (p.Ser1351Ala)
2g.25742466A>GCA346075522ASXL2c.3868T>C (p.Ser1290Pro)
c.3871T>C (p.Ser1291Pro)
c.3787T>C (p.Ser1263Pro)
c.2320T>C (p.Ser774Pro)
c.3505T>C (p.Ser1169Pro)
c.3091T>C (p.Ser1031Pro)
c.3697T>C (p.Ser1233Pro)
c.4051T>C (p.Ser1351Pro)
2g.25742466A>TCA346075523ASXL2c.3868T>A (p.Ser1290Thr)
c.3871T>A (p.Ser1291Thr)
c.3787T>A (p.Ser1263Thr)
c.2320T>A (p.Ser774Thr)
c.3505T>A (p.Ser1169Thr)
c.3091T>A (p.Ser1031Thr)
c.3697T>A (p.Ser1233Thr)
c.4051T>A (p.Ser1351Thr)
2g.25742467A>CCA346075528ASXL2c.3867T>G (p.Ser1289Arg)
c.3870T>G (p.Ser1290Arg)
c.3786T>G (p.Ser1262Arg)
c.2319T>G (p.Ser773Arg)
c.3504T>G (p.Ser1168Arg)
c.3090T>G (p.Ser1030Arg)
c.3696T>G (p.Ser1232Arg)
c.4050T>G (p.Ser1350Arg)
2g.25742467A>GCA425353680ASXL2c.3867T>C (p.Ser1289=)
c.3870T>C (p.Ser1290=)
c.3786T>C (p.Ser1262=)
c.2319T>C (p.Ser773=)
c.3504T>C (p.Ser1168=)
c.3090T>C (p.Ser1030=)
c.3696T>C (p.Ser1232=)
c.4050T>C (p.Ser1350=)
2g.25742467A>TCA346075526ASXL2c.3867T>A (p.Ser1289Arg)
c.3870T>A (p.Ser1290Arg)
c.3786T>A (p.Ser1262Arg)
c.2319T>A (p.Ser773Arg)
c.3504T>A (p.Ser1168Arg)
c.3090T>A (p.Ser1030Arg)
c.3696T>A (p.Ser1232Arg)
c.4050T>A (p.Ser1350Arg)
2g.25742468C>ACA346075530ASXL2c.3866G>T (p.Ser1289Ile)
c.3869G>T (p.Ser1290Ile)
c.3785G>T (p.Ser1262Ile)
c.2318G>T (p.Ser773Ile)
c.3503G>T (p.Ser1168Ile)
c.3089G>T (p.Ser1030Ile)
c.3695G>T (p.Ser1232Ile)
c.4049G>T (p.Ser1350Ile)
2g.25742468C>GCA346075532ASXL2c.3866G>C (p.Ser1289Thr)
c.3869G>C (p.Ser1290Thr)
c.3785G>C (p.Ser1262Thr)
c.2318G>C (p.Ser773Thr)
c.3503G>C (p.Ser1168Thr)
c.3089G>C (p.Ser1030Thr)
c.3695G>C (p.Ser1232Thr)
c.4049G>C (p.Ser1350Thr)
COSMIC COSMIC
2g.25742468C>TCA346075535ASXL2c.3866G>A (p.Ser1289Asn)
c.3869G>A (p.Ser1290Asn)
c.3785G>A (p.Ser1262Asn)
c.2318G>A (p.Ser773Asn)
c.3503G>A (p.Ser1168Asn)
c.3089G>A (p.Ser1030Asn)
c.3695G>A (p.Ser1232Asn)
c.4049G>A (p.Ser1350Asn)
ClinVar dbSNP
2g.25742469T>ACA346075537ASXL2c.3865A>T (p.Ser1289Cys)
c.3868A>T (p.Ser1290Cys)
c.3784A>T (p.Ser1262Cys)
c.2317A>T (p.Ser773Cys)
c.3502A>T (p.Ser1168Cys)
c.3088A>T (p.Ser1030Cys)
c.3694A>T (p.Ser1232Cys)
c.4048A>T (p.Ser1350Cys)
2g.25742469T>CCA346075539ASXL2c.3865A>G (p.Ser1289Gly)
c.3868A>G (p.Ser1290Gly)
c.3784A>G (p.Ser1262Gly)
c.2317A>G (p.Ser773Gly)
c.3502A>G (p.Ser1168Gly)
c.3088A>G (p.Ser1030Gly)
c.3694A>G (p.Ser1232Gly)
c.4048A>G (p.Ser1350Gly)
2g.25742469T>GCA346075541ASXL2c.3865A>C (p.Ser1289Arg)
c.3868A>C (p.Ser1290Arg)
c.3784A>C (p.Ser1262Arg)
c.2317A>C (p.Ser773Arg)
c.3502A>C (p.Ser1168Arg)
c.3088A>C (p.Ser1030Arg)
c.3694A>C (p.Ser1232Arg)
c.4048A>C (p.Ser1350Arg)
2g.25742470G>ACA425353681ASXL2c.3864C>T (p.Phe1288=)
c.3867C>T (p.Phe1289=)
c.3783C>T (p.Phe1261=)
c.2316C>T (p.Phe772=)
c.3501C>T (p.Phe1167=)
c.3087C>T (p.Phe1029=)
c.3693C>T (p.Phe1231=)
c.4047C>T (p.Phe1349=)
2g.25742470G>CCA346075545ASXL2c.3864C>G (p.Phe1288Leu)
c.3867C>G (p.Phe1289Leu)
c.3783C>G (p.Phe1261Leu)
c.2316C>G (p.Phe772Leu)
c.3501C>G (p.Phe1167Leu)
c.3087C>G (p.Phe1029Leu)
c.3693C>G (p.Phe1231Leu)
c.4047C>G (p.Phe1349Leu)
2g.25742470G>TCA346075544ASXL2c.3864C>A (p.Phe1288Leu)
c.3867C>A (p.Phe1289Leu)
c.3783C>A (p.Phe1261Leu)
c.2316C>A (p.Phe772Leu)
c.3501C>A (p.Phe1167Leu)
c.3087C>A (p.Phe1029Leu)
c.3693C>A (p.Phe1231Leu)
c.4047C>A (p.Phe1349Leu)
2g.25742471A>CCA346075547ASXL2c.3863T>G (p.Phe1288Cys)
c.3866T>G (p.Phe1289Cys)
c.3782T>G (p.Phe1261Cys)
c.2315T>G (p.Phe772Cys)
c.3500T>G (p.Phe1167Cys)
c.3086T>G (p.Phe1029Cys)
c.3692T>G (p.Phe1231Cys)
c.4046T>G (p.Phe1349Cys)
2g.25742471A>GCA346075549ASXL2c.3863T>C (p.Phe1288Ser)
c.3866T>C (p.Phe1289Ser)
c.3782T>C (p.Phe1261Ser)
c.2315T>C (p.Phe772Ser)
c.3500T>C (p.Phe1167Ser)
c.3086T>C (p.Phe1029Ser)
c.3692T>C (p.Phe1231Ser)
c.4046T>C (p.Phe1349Ser)
2g.25742471A>TCA346075552ASXL2c.3863T>A (p.Phe1288Tyr)
c.3866T>A (p.Phe1289Tyr)
c.3782T>A (p.Phe1261Tyr)
c.2315T>A (p.Phe772Tyr)
c.3500T>A (p.Phe1167Tyr)
c.3086T>A (p.Phe1029Tyr)
c.3692T>A (p.Phe1231Tyr)
c.4046T>A (p.Phe1349Tyr)
2g.25742472A>CCA346075555ASXL2c.3862T>G (p.Phe1288Val)
c.3865T>G (p.Phe1289Val)
c.3781T>G (p.Phe1261Val)
c.2314T>G (p.Phe772Val)
c.3499T>G (p.Phe1167Val)
c.3085T>G (p.Phe1029Val)
c.3691T>G (p.Phe1231Val)
c.4045T>G (p.Phe1349Val)
2g.25742472A>GCA346075557ASXL2c.3862T>C (p.Phe1288Leu)
c.3865T>C (p.Phe1289Leu)
c.3781T>C (p.Phe1261Leu)
c.2314T>C (p.Phe772Leu)
c.3499T>C (p.Phe1167Leu)
c.3085T>C (p.Phe1029Leu)
c.3691T>C (p.Phe1231Leu)
c.4045T>C (p.Phe1349Leu)
2g.25742472A>TCA346075558ASXL2c.3862T>A (p.Phe1288Ile)
c.3865T>A (p.Phe1289Ile)
c.3781T>A (p.Phe1261Ile)
c.2314T>A (p.Phe772Ile)
c.3499T>A (p.Phe1167Ile)
c.3085T>A (p.Phe1029Ile)
c.3691T>A (p.Phe1231Ile)
c.4045T>A (p.Phe1349Ile)
2g.25742473A>CCA425353684ASXL2c.3861T>G (p.Leu1287=)
c.3864T>G (p.Leu1288=)
c.3780T>G (p.Leu1260=)
c.2313T>G (p.Leu771=)
c.3498T>G (p.Leu1166=)
c.3084T>G (p.Leu1028=)
c.3690T>G (p.Leu1230=)
c.4044T>G (p.Leu1348=)
gnomAD v4
2g.25742473A>GCA425353682ASXL2c.3861T>C (p.Leu1287=)
c.3864T>C (p.Leu1288=)
c.3780T>C (p.Leu1260=)
c.2313T>C (p.Leu771=)
c.3498T>C (p.Leu1166=)
c.3084T>C (p.Leu1028=)
c.3690T>C (p.Leu1230=)
c.4044T>C (p.Leu1348=)
2g.25742473A>TCA425353683ASXL2c.3861T>A (p.Leu1287=)
c.3864T>A (p.Leu1288=)
c.3780T>A (p.Leu1260=)
c.2313T>A (p.Leu771=)
c.3498T>A (p.Leu1166=)
c.3084T>A (p.Leu1028=)
c.3690T>A (p.Leu1230=)
c.4044T>A (p.Leu1348=)
2g.25742474A=CA1239490489ASXL2c.3860T= (p.Leu1287=)
c.3863T= (p.Leu1288=)
c.3779T= (p.Leu1260=)
c.2312T= (p.Leu771=)
c.3497T= (p.Leu1166=)
c.3083T= (p.Leu1028=)
c.3689T= (p.Leu1230=)
c.4043T= (p.Leu1348=)
2g.25742474A>CCA346075562ASXL2c.3860T>G (p.Leu1287Arg)
c.3863T>G (p.Leu1288Arg)
c.3779T>G (p.Leu1260Arg)
c.2312T>G (p.Leu771Arg)
c.3497T>G (p.Leu1166Arg)
c.3083T>G (p.Leu1028Arg)
c.3689T>G (p.Leu1230Arg)
c.4043T>G (p.Leu1348Arg)
dbSNP
2g.25742474A>GCA346075565ASXL2c.3860T>C (p.Leu1287Pro)
c.3863T>C (p.Leu1288Pro)
c.3779T>C (p.Leu1260Pro)
c.2312T>C (p.Leu771Pro)
c.3497T>C (p.Leu1166Pro)
c.3083T>C (p.Leu1028Pro)
c.3689T>C (p.Leu1230Pro)
c.4043T>C (p.Leu1348Pro)
2g.25742474A>TCA346075563ASXL2c.3860T>A (p.Leu1287His)
c.3863T>A (p.Leu1288His)
c.3779T>A (p.Leu1260His)
c.2312T>A (p.Leu771His)
c.3497T>A (p.Leu1166His)
c.3083T>A (p.Leu1028His)
c.3689T>A (p.Leu1230His)
c.4043T>A (p.Leu1348His)
2g.25742475G>ACA346075566ASXL2c.3859C>T (p.Leu1287Phe)
c.3862C>T (p.Leu1288Phe)
c.3778C>T (p.Leu1260Phe)
c.2311C>T (p.Leu771Phe)
c.3496C>T (p.Leu1166Phe)
c.3082C>T (p.Leu1028Phe)
c.3688C>T (p.Leu1230Phe)
c.4042C>T (p.Leu1348Phe)
2g.25742475G>CCA346075567ASXL2c.3859C>G (p.Leu1287Val)
c.3862C>G (p.Leu1288Val)
c.3778C>G (p.Leu1260Val)
c.2311C>G (p.Leu771Val)
c.3496C>G (p.Leu1166Val)
c.3082C>G (p.Leu1028Val)
c.3688C>G (p.Leu1230Val)
c.4042C>G (p.Leu1348Val)
2g.25742475G>TCA346075568ASXL2c.3859C>A (p.Leu1287Ile)
c.3862C>A (p.Leu1288Ile)
c.3778C>A (p.Leu1260Ile)
c.2311C>A (p.Leu771Ile)
c.3496C>A (p.Leu1166Ile)
c.3082C>A (p.Leu1028Ile)
c.3688C>A (p.Leu1230Ile)
c.4042C>A (p.Leu1348Ile)
gnomAD v4 COSMIC COSMIC
2g.25742476C>ACA346075569ASXL2c.3858G>T (p.Glu1286Asp)
c.3861G>T (p.Glu1287Asp)
c.3777G>T (p.Glu1259Asp)
c.2310G>T (p.Glu770Asp)
c.3495G>T (p.Glu1165Asp)
c.3081G>T (p.Glu1027Asp)
c.3687G>T (p.Glu1229Asp)
c.4041G>T (p.Glu1347Asp)
2g.25742476C=CA1239490490ASXL2c.3858G= (p.Glu1286=)
c.3861G= (p.Glu1287=)
c.3777G= (p.Glu1259=)
c.2310G= (p.Glu770=)
c.3495G= (p.Glu1165=)
c.3081G= (p.Glu1027=)
c.3687G= (p.Glu1229=)
c.4041G= (p.Glu1347=)
2g.25742476C>GCA346075570ASXL2c.3858G>C (p.Glu1286Asp)
c.3861G>C (p.Glu1287Asp)
c.3777G>C (p.Glu1259Asp)
c.2310G>C (p.Glu770Asp)
c.3495G>C (p.Glu1165Asp)
c.3081G>C (p.Glu1027Asp)
c.3687G>C (p.Glu1229Asp)
c.4041G>C (p.Glu1347Asp)
2g.25742476C>TCA425353685ASXL2c.3858G>A (p.Glu1286=)
c.3861G>A (p.Glu1287=)
c.3777G>A (p.Glu1259=)
c.2310G>A (p.Glu770=)
c.3495G>A (p.Glu1165=)
c.3081G>A (p.Glu1027=)
c.3687G>A (p.Glu1229=)
c.4041G>A (p.Glu1347=)
dbSNP gnomAD v2 gnomAD v4
2g.25742477T>ACA346075571ASXL2c.3857A>T (p.Glu1286Val)
c.3860A>T (p.Glu1287Val)
c.3776A>T (p.Glu1259Val)
c.2309A>T (p.Glu770Val)
c.3494A>T (p.Glu1165Val)
c.3080A>T (p.Glu1027Val)
c.3686A>T (p.Glu1229Val)
c.4040A>T (p.Glu1347Val)
2g.25742477T>CCA346075572ASXL2c.3857A>G (p.Glu1286Gly)
c.3860A>G (p.Glu1287Gly)
c.3776A>G (p.Glu1259Gly)
c.2309A>G (p.Glu770Gly)
c.3494A>G (p.Glu1165Gly)
c.3080A>G (p.Glu1027Gly)
c.3686A>G (p.Glu1229Gly)
c.4040A>G (p.Glu1347Gly)
2g.25742477T>GCA346075573ASXL2c.3857A>C (p.Glu1286Ala)
c.3860A>C (p.Glu1287Ala)
c.3776A>C (p.Glu1259Ala)
c.2309A>C (p.Glu770Ala)
c.3494A>C (p.Glu1165Ala)
c.3080A>C (p.Glu1027Ala)
c.3686A>C (p.Glu1229Ala)
c.4040A>C (p.Glu1347Ala)
2g.25742478C>ACA346075575ASXL2c.3856G>T (p.Glu1286Ter)
c.3859G>T (p.Glu1287Ter)
c.3775G>T (p.Glu1259Ter)
c.2308G>T (p.Glu770Ter)
c.3493G>T (p.Glu1165Ter)
c.3079G>T (p.Glu1027Ter)
c.3685G>T (p.Glu1229Ter)
c.4039G>T (p.Glu1347Ter)
2g.25742478C=CA1239490491ASXL2c.3856G= (p.Glu1286=)
c.3859G= (p.Glu1287=)
c.3775G= (p.Glu1259=)
c.2308G= (p.Glu770=)
c.3493G= (p.Glu1165=)
c.3079G= (p.Glu1027=)
c.3685G= (p.Glu1229=)
c.4039G= (p.Glu1347=)
2g.25742478C>GCA346075576ASXL2c.3856G>C (p.Glu1286Gln)
c.3859G>C (p.Glu1287Gln)
c.3775G>C (p.Glu1259Gln)
c.2308G>C (p.Glu770Gln)
c.3493G>C (p.Glu1165Gln)
c.3079G>C (p.Glu1027Gln)
c.3685G>C (p.Glu1229Gln)
c.4039G>C (p.Glu1347Gln)
gnomAD v4
2g.25742478C>TCA1557409ASXL2c.3856G>A (p.Glu1286Lys)
c.3859G>A (p.Glu1287Lys)
c.3775G>A (p.Glu1259Lys)
c.2308G>A (p.Glu770Lys)
c.3493G>A (p.Glu1165Lys)
c.3079G>A (p.Glu1027Lys)
c.3685G>A (p.Glu1229Lys)
c.4039G>A (p.Glu1347Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.25742479G>ACA1557410ASXL2c.3855C>T (p.Pro1285=)
c.3858C>T (p.Pro1286=)
c.3774C>T (p.Pro1258=)
c.2307C>T (p.Pro769=)
c.3492C>T (p.Pro1164=)
c.3078C>T (p.Pro1026=)
c.3684C>T (p.Pro1228=)
c.4038C>T (p.Pro1346=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742479G>CCA425353686ASXL2c.3855C>G (p.Pro1285=)
c.3858C>G (p.Pro1286=)
c.3774C>G (p.Pro1258=)
c.2307C>G (p.Pro769=)
c.3492C>G (p.Pro1164=)
c.3078C>G (p.Pro1026=)
c.3684C>G (p.Pro1228=)
c.4038C>G (p.Pro1346=)
gnomAD v3 gnomAD v4
2g.25742479G=CA1239490492ASXL2c.3855C= (p.Pro1285=)
c.3858C= (p.Pro1286=)
c.3774C= (p.Pro1258=)
c.2307C= (p.Pro769=)
c.3492C= (p.Pro1164=)
c.3078C= (p.Pro1026=)
c.3684C= (p.Pro1228=)
c.4038C= (p.Pro1346=)
2g.25742479G>TCA425353687ASXL2c.3855C>A (p.Pro1285=)
c.3858C>A (p.Pro1286=)
c.3774C>A (p.Pro1258=)
c.2307C>A (p.Pro769=)
c.3492C>A (p.Pro1164=)
c.3078C>A (p.Pro1026=)
c.3684C>A (p.Pro1228=)
c.4038C>A (p.Pro1346=)
2g.25742480G>ACA346075586ASXL2c.3854C>T (p.Pro1285Leu)
c.3857C>T (p.Pro1286Leu)
c.3773C>T (p.Pro1258Leu)
c.2306C>T (p.Pro769Leu)
c.3491C>T (p.Pro1164Leu)
c.3077C>T (p.Pro1026Leu)
c.3683C>T (p.Pro1228Leu)
c.4037C>T (p.Pro1346Leu)
gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.25742480G>CCA346075589ASXL2c.3854C>G (p.Pro1285Arg)
c.3857C>G (p.Pro1286Arg)
c.3773C>G (p.Pro1258Arg)
c.2306C>G (p.Pro769Arg)
c.3491C>G (p.Pro1164Arg)
c.3077C>G (p.Pro1026Arg)
c.3683C>G (p.Pro1228Arg)
c.4037C>G (p.Pro1346Arg)
2g.25742480G>TCA346075583ASXL2c.3854C>A (p.Pro1285His)
c.3857C>A (p.Pro1286His)
c.3773C>A (p.Pro1258His)
c.2306C>A (p.Pro769His)
c.3491C>A (p.Pro1164His)
c.3077C>A (p.Pro1026His)
c.3683C>A (p.Pro1228His)
c.4037C>A (p.Pro1346His)
2g.25742481G>ACA346075592ASXL2c.3853C>T (p.Pro1285Ser)
c.3856C>T (p.Pro1286Ser)
c.3772C>T (p.Pro1258Ser)
c.2305C>T (p.Pro769Ser)
c.3490C>T (p.Pro1164Ser)
c.3076C>T (p.Pro1026Ser)
c.3682C>T (p.Pro1228Ser)
c.4036C>T (p.Pro1346Ser)
dbSNP gnomAD v2
2g.25742481G>CCA346075595ASXL2c.3853C>G (p.Pro1285Ala)
c.3856C>G (p.Pro1286Ala)
c.3772C>G (p.Pro1258Ala)
c.2305C>G (p.Pro769Ala)
c.3490C>G (p.Pro1164Ala)
c.3076C>G (p.Pro1026Ala)
c.3682C>G (p.Pro1228Ala)
c.4036C>G (p.Pro1346Ala)
gnomAD v4
2g.25742481G=CA1239490493ASXL2c.3853C= (p.Pro1285=)
c.3856C= (p.Pro1286=)
c.3772C= (p.Pro1258=)
c.2305C= (p.Pro769=)
c.3490C= (p.Pro1164=)
c.3076C= (p.Pro1026=)
c.3682C= (p.Pro1228=)
c.4036C= (p.Pro1346=)
2g.25742481G>TCA346075598ASXL2c.3853C>A (p.Pro1285Thr)
c.3856C>A (p.Pro1286Thr)
c.3772C>A (p.Pro1258Thr)
c.2305C>A (p.Pro769Thr)
c.3490C>A (p.Pro1164Thr)
c.3076C>A (p.Pro1026Thr)
c.3682C>A (p.Pro1228Thr)
c.4036C>A (p.Pro1346Thr)
2g.25742482G>ACA425353688ASXL2c.3852C>T (p.Ser1284=)
c.3855C>T (p.Ser1285=)
c.3771C>T (p.Ser1257=)
c.2304C>T (p.Ser768=)
c.3489C>T (p.Ser1163=)
c.3075C>T (p.Ser1025=)
c.3681C>T (p.Ser1227=)
c.4035C>T (p.Ser1345=)
2g.25742482G>CCA346075601ASXL2c.3852C>G (p.Ser1284Arg)
c.3855C>G (p.Ser1285Arg)
c.3771C>G (p.Ser1257Arg)
c.2304C>G (p.Ser768Arg)
c.3489C>G (p.Ser1163Arg)
c.3075C>G (p.Ser1025Arg)
c.3681C>G (p.Ser1227Arg)
c.4035C>G (p.Ser1345Arg)
2g.25742482G>TCA346075604ASXL2c.3852C>A (p.Ser1284Arg)
c.3855C>A (p.Ser1285Arg)
c.3771C>A (p.Ser1257Arg)
c.2304C>A (p.Ser768Arg)
c.3489C>A (p.Ser1163Arg)
c.3075C>A (p.Ser1025Arg)
c.3681C>A (p.Ser1227Arg)
c.4035C>A (p.Ser1345Arg)
2g.25742483C>ACA346075613ASXL2c.3851G>T (p.Ser1284Ile)
c.3854G>T (p.Ser1285Ile)
c.3770G>T (p.Ser1257Ile)
c.2303G>T (p.Ser768Ile)
c.3488G>T (p.Ser1163Ile)
c.3074G>T (p.Ser1025Ile)
c.3680G>T (p.Ser1227Ile)
c.4034G>T (p.Ser1345Ile)
gnomAD v4
2g.25742483C>GCA346075608ASXL2c.3851G>C (p.Ser1284Thr)
c.3854G>C (p.Ser1285Thr)
c.3770G>C (p.Ser1257Thr)
c.2303G>C (p.Ser768Thr)
c.3488G>C (p.Ser1163Thr)
c.3074G>C (p.Ser1025Thr)
c.3680G>C (p.Ser1227Thr)
c.4034G>C (p.Ser1345Thr)
2g.25742483C>TCA346075610ASXL2c.3851G>A (p.Ser1284Asn)
c.3854G>A (p.Ser1285Asn)
c.3770G>A (p.Ser1257Asn)
c.2303G>A (p.Ser768Asn)
c.3488G>A (p.Ser1163Asn)
c.3074G>A (p.Ser1025Asn)
c.3680G>A (p.Ser1227Asn)
c.4034G>A (p.Ser1345Asn)
2g.25742483_25742484delinsCTCA1239490494ASXL2c.3850_3851delinsAG (p.Ser1284=)
c.3853_3854delinsAG (p.Ser1285=)
c.3769_3770delinsAG (p.Ser1257=)
c.2302_2303delinsAG (p.Ser768=)
c.3487_3488delinsAG (p.Ser1163=)
c.3073_3074delinsAG (p.Ser1025=)
c.3679_3680delinsAG (p.Ser1227=)
c.4033_4034delinsAG (p.Ser1345=)
2g.25742484delCA531761030ASXL2c.3850del (p.Ser1284AlafsTer?)
c.3853del (p.Ser1285AlafsTer?)
c.3769del (p.Ser1257AlafsTer?)
c.2302del (p.Ser768AlafsTer?)
c.3487del (p.Ser1163AlafsTer?)
c.3073del (p.Ser1025AlafsTer?)
c.3679del (p.Ser1227AlafsTer?)
c.4033del (p.Ser1345AlafsTer?)
dbSNP gnomAD v2 gnomAD v4
2g.25742484T>ACA346075615ASXL2c.3850A>T (p.Ser1284Cys)
c.3853A>T (p.Ser1285Cys)
c.3769A>T (p.Ser1257Cys)
c.2302A>T (p.Ser768Cys)
c.3487A>T (p.Ser1163Cys)
c.3073A>T (p.Ser1025Cys)
c.3679A>T (p.Ser1227Cys)
c.4033A>T (p.Ser1345Cys)
2g.25742484T>CCA346075617ASXL2c.3850A>G (p.Ser1284Gly)
c.3853A>G (p.Ser1285Gly)
c.3769A>G (p.Ser1257Gly)
c.2302A>G (p.Ser768Gly)
c.3487A>G (p.Ser1163Gly)
c.3073A>G (p.Ser1025Gly)
c.3679A>G (p.Ser1227Gly)
c.4033A>G (p.Ser1345Gly)
2g.25742484T>GCA346075618ASXL2c.3850A>C (p.Ser1284Arg)
c.3853A>C (p.Ser1285Arg)
c.3769A>C (p.Ser1257Arg)
c.2302A>C (p.Ser768Arg)
c.3487A>C (p.Ser1163Arg)
c.3073A>C (p.Ser1025Arg)
c.3679A>C (p.Ser1227Arg)
c.4033A>C (p.Ser1345Arg)
2g.25742485G>ACA425353689ASXL2c.3849C>T (p.Ser1283=)
c.3852C>T (p.Ser1284=)
c.3768C>T (p.Ser1256=)
c.2301C>T (p.Ser767=)
c.3486C>T (p.Ser1162=)
c.3072C>T (p.Ser1024=)
c.3678C>T (p.Ser1226=)
c.4032C>T (p.Ser1344=)
2g.25742485G>CCA346075621ASXL2c.3849C>G (p.Ser1283Arg)
c.3852C>G (p.Ser1284Arg)
c.3768C>G (p.Ser1256Arg)
c.2301C>G (p.Ser767Arg)
c.3486C>G (p.Ser1162Arg)
c.3072C>G (p.Ser1024Arg)
c.3678C>G (p.Ser1226Arg)
c.4032C>G (p.Ser1344Arg)
2g.25742485G>TCA346075623ASXL2c.3849C>A (p.Ser1283Arg)
c.3852C>A (p.Ser1284Arg)
c.3768C>A (p.Ser1256Arg)
c.2301C>A (p.Ser767Arg)
c.3486C>A (p.Ser1162Arg)
c.3072C>A (p.Ser1024Arg)
c.3678C>A (p.Ser1226Arg)
c.4032C>A (p.Ser1344Arg)
2g.25742486C>ACA346075628ASXL2c.3848G>T (p.Ser1283Ile)
c.3851G>T (p.Ser1284Ile)
c.3767G>T (p.Ser1256Ile)
c.2300G>T (p.Ser767Ile)
c.3485G>T (p.Ser1162Ile)
c.3071G>T (p.Ser1024Ile)
c.3677G>T (p.Ser1226Ile)
c.4031G>T (p.Ser1344Ile)
2g.25742486C>GCA346075635ASXL2c.3848G>C (p.Ser1283Thr)
c.3851G>C (p.Ser1284Thr)
c.3767G>C (p.Ser1256Thr)
c.2300G>C (p.Ser767Thr)
c.3485G>C (p.Ser1162Thr)
c.3071G>C (p.Ser1024Thr)
c.3677G>C (p.Ser1226Thr)
c.4031G>C (p.Ser1344Thr)
2g.25742486C>TCA346075632ASXL2c.3848G>A (p.Ser1283Asn)
c.3851G>A (p.Ser1284Asn)
c.3767G>A (p.Ser1256Asn)
c.2300G>A (p.Ser767Asn)
c.3485G>A (p.Ser1162Asn)
c.3071G>A (p.Ser1024Asn)
c.3677G>A (p.Ser1226Asn)
c.4031G>A (p.Ser1344Asn)
2g.25742487T>ACA346075638ASXL2c.3847A>T (p.Ser1283Cys)
c.3850A>T (p.Ser1284Cys)
c.3766A>T (p.Ser1256Cys)
c.2299A>T (p.Ser767Cys)
c.3484A>T (p.Ser1162Cys)
c.3070A>T (p.Ser1024Cys)
c.3676A>T (p.Ser1226Cys)
c.4030A>T (p.Ser1344Cys)
2g.25742487T>CCA1557411ASXL2c.3847A>G (p.Ser1283Gly)
c.3850A>G (p.Ser1284Gly)
c.3766A>G (p.Ser1256Gly)
c.2299A>G (p.Ser767Gly)
c.3484A>G (p.Ser1162Gly)
c.3070A>G (p.Ser1024Gly)
c.3676A>G (p.Ser1226Gly)
c.4030A>G (p.Ser1344Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742487T>GCA346075641ASXL2c.3847A>C (p.Ser1283Arg)
c.3850A>C (p.Ser1284Arg)
c.3766A>C (p.Ser1256Arg)
c.2299A>C (p.Ser767Arg)
c.3484A>C (p.Ser1162Arg)
c.3070A>C (p.Ser1024Arg)
c.3676A>C (p.Ser1226Arg)
c.4030A>C (p.Ser1344Arg)
2g.25742487T=CA1239490495ASXL2c.3847A= (p.Ser1283=)
c.3850A= (p.Ser1284=)
c.3766A= (p.Ser1256=)
c.2299A= (p.Ser767=)
c.3484A= (p.Ser1162=)
c.3070A= (p.Ser1024=)
c.3676A= (p.Ser1226=)
c.4030A= (p.Ser1344=)
2g.25742488A=CA1239490496ASXL2c.3846T= (p.Arg1282=)
c.3849T= (p.Arg1283=)
c.3765T= (p.Arg1255=)
c.2298T= (p.Arg766=)
c.3483T= (p.Arg1161=)
c.3069T= (p.Arg1023=)
c.3675T= (p.Arg1225=)
c.4029T= (p.Arg1343=)
2g.25742488A>CCA425353690ASXL2c.3846T>G (p.Arg1282=)
c.3849T>G (p.Arg1283=)
c.3765T>G (p.Arg1255=)
c.2298T>G (p.Arg766=)
c.3483T>G (p.Arg1161=)
c.3069T>G (p.Arg1023=)
c.3675T>G (p.Arg1225=)
c.4029T>G (p.Arg1343=)
2g.25742488A>GCA1557412ASXL2c.3846T>C (p.Arg1282=)
c.3849T>C (p.Arg1283=)
c.3765T>C (p.Arg1255=)
c.2298T>C (p.Arg766=)
c.3483T>C (p.Arg1161=)
c.3069T>C (p.Arg1023=)
c.3675T>C (p.Arg1225=)
c.4029T>C (p.Arg1343=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742488A>TCA425353691ASXL2c.3846T>A (p.Arg1282=)
c.3849T>A (p.Arg1283=)
c.3765T>A (p.Arg1255=)
c.2298T>A (p.Arg766=)
c.3483T>A (p.Arg1161=)
c.3069T>A (p.Arg1023=)
c.3675T>A (p.Arg1225=)
c.4029T>A (p.Arg1343=)

Number of alleles fetched