Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25742384C>A | CA346075048 | ASXL2 | c.3950G>T (p.Gly1317Val) c.3953G>T (p.Gly1318Val) c.3869G>T (p.Gly1290Val) c.2402G>T (p.Gly801Val) c.3587G>T (p.Gly1196Val) c.3173G>T (p.Gly1058Val) c.3779G>T (p.Gly1260Val) c.4133G>T (p.Gly1378Val) | |
2 | g.25742384C= | CA1239490439 | ASXL2 | c.3950G= (p.Gly1317=) c.3953G= (p.Gly1318=) c.3869G= (p.Gly1290=) c.2402G= (p.Gly801=) c.3587G= (p.Gly1196=) c.3173G= (p.Gly1058=) c.3779G= (p.Gly1260=) c.4133G= (p.Gly1378=) | |
2 | g.25742384C>G | CA346075051 | ASXL2 | c.3950G>C (p.Gly1317Ala) c.3953G>C (p.Gly1318Ala) c.3869G>C (p.Gly1290Ala) c.2402G>C (p.Gly801Ala) c.3587G>C (p.Gly1196Ala) c.3173G>C (p.Gly1058Ala) c.3779G>C (p.Gly1260Ala) c.4133G>C (p.Gly1378Ala) | gnomAD v4 |
2 | g.25742384C>T | CA1557390 | ASXL2 | c.3950G>A (p.Gly1317Glu) c.3953G>A (p.Gly1318Glu) c.3869G>A (p.Gly1290Glu) c.2402G>A (p.Gly801Glu) c.3587G>A (p.Gly1196Glu) c.3173G>A (p.Gly1058Glu) c.3779G>A (p.Gly1260Glu) c.4133G>A (p.Gly1378Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25742385C>A | CA346075054 | ASXL2 | c.3949G>T (p.Gly1317Ter) c.3952G>T (p.Gly1318Ter) c.3868G>T (p.Gly1290Ter) c.2401G>T (p.Gly801Ter) c.3586G>T (p.Gly1196Ter) c.3172G>T (p.Gly1058Ter) c.3778G>T (p.Gly1260Ter) c.4132G>T (p.Gly1378Ter) | |
2 | g.25742385C>G | CA346075056 | ASXL2 | c.3949G>C (p.Gly1317Arg) c.3952G>C (p.Gly1318Arg) c.3868G>C (p.Gly1290Arg) c.2401G>C (p.Gly801Arg) c.3586G>C (p.Gly1196Arg) c.3172G>C (p.Gly1058Arg) c.3778G>C (p.Gly1260Arg) c.4132G>C (p.Gly1378Arg) | |
2 | g.25742385C>T | CA346075055 | ASXL2 | c.3949G>A (p.Gly1317Arg) c.3952G>A (p.Gly1318Arg) c.3868G>A (p.Gly1290Arg) c.2401G>A (p.Gly801Arg) c.3586G>A (p.Gly1196Arg) c.3172G>A (p.Gly1058Arg) c.3778G>A (p.Gly1260Arg) c.4132G>A (p.Gly1378Arg) | |
2 | g.25742386A>C | CA346075057 | ASXL2 | c.3948T>G (p.Tyr1316Ter) c.3951T>G (p.Tyr1317Ter) c.3867T>G (p.Tyr1289Ter) c.2400T>G (p.Tyr800Ter) c.3585T>G (p.Tyr1195Ter) c.3171T>G (p.Tyr1057Ter) c.3777T>G (p.Tyr1259Ter) c.4131T>G (p.Tyr1377Ter) | |
2 | g.25742386A>G | CA425354754 | ASXL2 | c.3948T>C (p.Tyr1316=) c.3951T>C (p.Tyr1317=) c.3867T>C (p.Tyr1289=) c.2400T>C (p.Tyr800=) c.3585T>C (p.Tyr1195=) c.3171T>C (p.Tyr1057=) c.3777T>C (p.Tyr1259=) c.4131T>C (p.Tyr1377=) | |
2 | g.25742386A>T | CA346075058 | ASXL2 | c.3948T>A (p.Tyr1316Ter) c.3951T>A (p.Tyr1317Ter) c.3867T>A (p.Tyr1289Ter) c.2400T>A (p.Tyr800Ter) c.3585T>A (p.Tyr1195Ter) c.3171T>A (p.Tyr1057Ter) c.3777T>A (p.Tyr1259Ter) c.4131T>A (p.Tyr1377Ter) | |
2 | g.25742387T>A | CA346075059 | ASXL2 | c.3947A>T (p.Tyr1316Phe) c.3950A>T (p.Tyr1317Phe) c.3866A>T (p.Tyr1289Phe) c.2399A>T (p.Tyr800Phe) c.3584A>T (p.Tyr1195Phe) c.3170A>T (p.Tyr1057Phe) c.3776A>T (p.Tyr1259Phe) c.4130A>T (p.Tyr1377Phe) | |
2 | g.25742387T>C | CA346075060 | ASXL2 | c.3947A>G (p.Tyr1316Cys) c.3950A>G (p.Tyr1317Cys) c.3866A>G (p.Tyr1289Cys) c.2399A>G (p.Tyr800Cys) c.3584A>G (p.Tyr1195Cys) c.3170A>G (p.Tyr1057Cys) c.3776A>G (p.Tyr1259Cys) c.4130A>G (p.Tyr1377Cys) | gnomAD v4 |
2 | g.25742387T>G | CA346075061 | ASXL2 | c.3947A>C (p.Tyr1316Ser) c.3950A>C (p.Tyr1317Ser) c.3866A>C (p.Tyr1289Ser) c.2399A>C (p.Tyr800Ser) c.3584A>C (p.Tyr1195Ser) c.3170A>C (p.Tyr1057Ser) c.3776A>C (p.Tyr1259Ser) c.4130A>C (p.Tyr1377Ser) | |
2 | g.25742388A>C | CA346075062 | ASXL2 | c.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) | |
2 | g.25742388A>G | CA346075063 | ASXL2 | c.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) | |
2 | g.25742388A>T | CA346075064 | ASXL2 | c.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) | |
2 | g.25742389C>A | CA346075066 | ASXL2 | c.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 |
2 | g.25742389C= | CA1239490440 | ASXL2 | c.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=) | |
2 | g.25742389C>G | CA346075069 | ASXL2 | c.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 |
2 | g.25742389C>T | CA43734255 | ASXL2 | c.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 |
2 | g.25742390A>C | CA346075074 | ASXL2 | c.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) | |
2 | g.25742390A>G | CA346075082 | ASXL2 | c.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) | |
2 | g.25742390A>T | CA346075078 | ASXL2 | c.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) | |
2 | g.25742391A= | CA1239490441 | ASXL2 | c.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=) | |
2 | g.25742391A>C | CA346075085 | ASXL2 | c.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) | |
2 | g.25742391A>G | CA425354758 | ASXL2 | c.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=) | |
2 | g.25742391A>T | CA346075086 | ASXL2 | c.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 |
2 | g.25742392C>A | CA346075088 | ASXL2 | c.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) | |
2 | g.25742392C>G | CA346075090 | ASXL2 | c.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) | |
2 | g.25742392C>T | CA425354761 | ASXL2 | c.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=) | |
2 | g.25742393T>A | CA346075095 | ASXL2 | c.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) | |
2 | g.25742393T>C | CA346075097 | ASXL2 | c.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 |
2 | g.25742393T>G | CA346075099 | ASXL2 | c.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) | |
2 | g.25742394T>A | CA346075103 | ASXL2 | c.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) | |
2 | g.25742394T>C | CA346075106 | ASXL2 | c.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) | |
2 | g.25742394T>G | CA346075108 | ASXL2 | c.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) | |
2 | g.25742395C>A | CA425354768 | ASXL2 | c.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=) | |
2 | g.25742395C= | CA1239490442 | ASXL2 | c.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=) | |
2 | g.25742395C>G | CA425354766 | ASXL2 | c.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 |
2 | g.25742395C>T | CA1557391 | ASXL2 | c.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 |
2 | g.25742396G>A | CA1557393 | ASXL2 | c.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 |
2 | g.25742396G>C | CA1557392 | ASXL2 | c.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 |
2 | g.25742396G= | CA1239490443 | ASXL2 | c.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=) | |
2 | g.25742396G>T | CA346075115 | ASXL2 | c.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) | |
2 | g.25742397G>A | CA346075120 | ASXL2 | c.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) | |
2 | g.25742397G>C | CA346075122 | ASXL2 | c.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) | |
2 | g.25742397G= | CA1239490444 | ASXL2 | c.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=) | |
2 | g.25742397G>T | CA1557394 | ASXL2 | c.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 |
2 | g.25742398G>A | CA1557395 | ASXL2 | c.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 |
2 | g.25742398G>C | CA425354775 | ASXL2 | c.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 |
2 | g.25742398G= | CA1239490445 | ASXL2 | c.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=) | |
2 | g.25742398G>T | CA425354777 | ASXL2 | c.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=) | |
2 | g.25742399G>A | CA346075132 | ASXL2 | c.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) | |
2 | g.25742399G>C | CA346075135 | ASXL2 | c.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) | |
2 | g.25742399G>T | CA346075138 | ASXL2 | c.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) | |
2 | g.25742400T>A | CA346075141 | ASXL2 | c.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) | |
2 | g.25742400T>C | CA346075144 | ASXL2 | c.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) | |
2 | g.25742400T>G | CA346075147 | ASXL2 | c.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) | |
2 | g.25742401T>A | CA346075151 | ASXL2 | c.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) | |
2 | g.25742401T>C | CA425354782 | ASXL2 | c.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=) | |
2 | g.25742401T>G | CA346075154 | ASXL2 | c.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) | |
2 | g.25742402T>A | CA346075161 | ASXL2 | c.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) | |
2 | g.25742402T>C | CA346075163 | ASXL2 | c.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) | |
2 | g.25742402T>G | CA346075158 | ASXL2 | c.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) | |
2 | g.25742403G>A | CA346075169 | ASXL2 | c.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) | |
2 | g.25742403G>C | CA346075167 | ASXL2 | c.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) | |
2 | g.25742403G>T | CA346075173 | ASXL2 | c.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) | |
2 | g.25742404C>A | CA425354789 | ASXL2 | c.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=) | |
2 | g.25742404C= | CA1239490446 | ASXL2 | c.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=) | |
2 | g.25742404C>G | CA425354793 | ASXL2 | c.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 |
2 | g.25742404C>T | CA425354794 | ASXL2 | c.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 |
2 | g.25742405A= | CA1239490447 | ASXL2 | c.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=) | |
2 | g.25742405A>C | CA1557396 | ASXL2 | c.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 |
2 | g.25742405A>G | CA346075177 | ASXL2 | c.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 |
2 | g.25742405A>T | CA346075180 | ASXL2 | c.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) | |
2 | g.25742406G>A | CA425354797 | ASXL2 | c.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 |
2 | g.25742406G>C | CA346075183 | ASXL2 | c.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) | |
2 | g.25742406G= | CA1239490448 | ASXL2 | c.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=) | |
2 | g.25742406G>T | CA346075185 | ASXL2 | c.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) | |
2 | g.25742407G>A | CA43734264 | ASXL2 | c.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 |
2 | g.25742407G>C | CA425354800 | ASXL2 | c.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 |
2 | g.25742407G= | CA1239490449 | ASXL2 | c.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=) | |
2 | g.25742407G>T | CA425354802 | ASXL2 | c.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=) | |
2 | g.25742408G>A | CA43734266 | ASXL2 | c.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 |
2 | g.25742408G>C | CA346075195 | ASXL2 | c.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) | |
2 | g.25742408G= | CA1239490450 | ASXL2 | c.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=) | |
2 | g.25742408G>T | CA346075197 | ASXL2 | c.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 |
2 | g.25742409G>A | CA43734268 | ASXL2 | c.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 |
2 | g.25742409G>C | CA346075202 | ASXL2 | c.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) | |
2 | g.25742409G= | CA1239490451 | ASXL2 | c.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=) | |
2 | g.25742409G>T | CA346075205 | ASXL2 | c.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) | |
2 | g.25742410del | CA2594414440 | ASXL2 | c.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 |
2 | g.25742410T>A | CA425354811 | ASXL2 | c.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=) | |
2 | g.25742410T>C | CA425354813 | ASXL2 | c.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=) | |
2 | g.25742410T>G | CA425354815 | ASXL2 | c.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 |
2 | g.25742410T= | CA1239490452 | ASXL2 | c.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=) | |
2 | g.25742411G>A | CA346075212 | ASXL2 | c.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 |
2 | g.25742411G>C | CA346075208 | ASXL2 | c.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) | |
2 | g.25742411G= | CA1239490453 | ASXL2 | c.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=) | |
2 | g.25742411G>T | CA346075210 | ASXL2 | c.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 |
2 | g.25742412G>A | CA346075217 | ASXL2 | c.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) | |
2 | g.25742412G>C | CA346075218 | ASXL2 | c.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) | |
2 | g.25742412G>T | CA346075221 | ASXL2 | c.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 |
2 | g.25742413A>C | CA425354826 | ASXL2 | c.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=) | |
2 | g.25742413A>G | CA425354828 | ASXL2 | c.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=) | |
2 | g.25742413A>T | CA425354823 | ASXL2 | c.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=) | |
2 | g.25742413_25742414del | CA2658189296 | ASXL2 | c.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 |
2 | g.25742413_25742416delinsAAGG | CA1239490454 | ASXL2 | c.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=) | |
2 | g.25742413_25742420del | CA2594414441 | ASXL2 | c.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 |
2 | g.25742414A>C | CA346075224 | ASXL2 | c.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) | |
2 | g.25742414A>G | CA346075225 | ASXL2 | c.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 |
2 | g.25742414A>T | CA346075227 | ASXL2 | c.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) | |
2 | g.25742416_25742418del | CA1239490455 | ASXL2 | c.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 |
2 | g.25742415G>A | CA43734270 | ASXL2 | c.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 |
2 | g.25742415G>C | CA346075229 | ASXL2 | c.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 |
2 | g.25742415G= | CA1239490456 | ASXL2 | c.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=) | |
2 | g.25742415G>T | CA346075230 | ASXL2 | c.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 |
2 | g.25742416G>A | CA425354841 | ASXL2 | c.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 |
2 | g.25742416G>C | CA425354843 | ASXL2 | c.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 |
2 | g.25742416G= | CA1239490457 | ASXL2 | c.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=) | |
2 | g.25742416G>T | CA425354847 | ASXL2 | c.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 |
2 | g.25742417A>C | CA346075231 | ASXL2 | c.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) | |
2 | g.25742417A>G | CA346075232 | ASXL2 | c.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) | |
2 | g.25742417A>T | CA346075233 | ASXL2 | c.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) | |
2 | g.25742417_25742420del | CA2658189297 | ASXL2 | c.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 |
2 | g.25742418G>A | CA346075239 | ASXL2 | c.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) | |
2 | g.25742418G>C | CA346075238 | ASXL2 | c.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 |
2 | g.25742418G>T | CA346075235 | ASXL2 | c.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 |
2 | g.25742419T>A | CA425354853 | ASXL2 | c.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=) | |
2 | g.25742419T>C | CA425354852 | ASXL2 | c.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=) | |
2 | g.25742419T>G | CA1557397 | ASXL2 | c.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 |
2 | g.25742419T= | CA1239490458 | ASXL2 | c.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=) | |
2 | g.25742420A= | CA1239490459 | ASXL2 | c.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=) | |
2 | g.25742420A>C | CA346075243 | ASXL2 | c.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) | |
2 | g.25742420A>G | CA346075245 | ASXL2 | c.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 |
2 | g.25742420A>T | CA346075248 | ASXL2 | c.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) | |
2 | g.25742421G>A | CA43734274 | ASXL2 | c.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 |
2 | g.25742421G>C | CA346075253 | ASXL2 | c.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) | |
2 | g.25742421G= | CA1239490460 | ASXL2 | c.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=) | |
2 | g.25742421G>T | CA346075256 | ASXL2 | c.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 |
2 | g.25742428_25742440del | CA2658189298 | ASXL2 | c.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 |
2 | g.25742422G>A | CA425354859 | ASXL2 | c.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 |
2 | g.25742422G>C | CA425354860 | ASXL2 | c.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=) | |
2 | g.25742422G>T | CA425354861 | ASXL2 | c.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=) | |
2 | g.25742423G>A | CA43734277 | ASXL2 | c.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 |
2 | g.25742423G>C | CA346075259 | ASXL2 | c.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) | |
2 | g.25742423G= | CA1239490461 | ASXL2 | c.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=) | |
2 | g.25742423G>T | CA346075261 | ASXL2 | c.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 |
2 | g.25742424G>A | CA346075266 | ASXL2 | c.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 |
2 | g.25742424G>C | CA346075268 | ASXL2 | c.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) | |
2 | g.25742424G= | CA1239490462 | ASXL2 | c.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=) | |
2 | g.25742424G>T | CA346075271 | ASXL2 | c.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 |
2 | g.25742425C>A | CA1557398 | ASXL2 | c.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 |
2 | g.25742425C= | CA1239490463 | ASXL2 | c.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=) | |
2 | g.25742425C>G | CA346075276 | ASXL2 | c.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 |
2 | g.25742425C>T | CA425354871 | ASXL2 | c.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 |
2 | g.25742425_25742426del | CA2658189299 | ASXL2 | c.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 |
2 | g.25742425_25742429del | CA2594414443 | ASXL2 | c.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 |
2 | g.25742426T>A | CA346075279 | ASXL2 | c.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) | |
2 | g.25742426T>C | CA346075282 | ASXL2 | c.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) | |
2 | g.25742426T>G | CA346075281 | ASXL2 | c.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 |
2 | g.25742426T= | CA1239490464 | ASXL2 | c.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=) | |
2 | g.25742427G>A | CA346075286 | ASXL2 | c.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) | |
2 | g.25742427G>C | CA346075288 | ASXL2 | c.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) | |
2 | g.25742427G>T | CA346075292 | ASXL2 | c.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 |
2 | g.25742428del | CA2658189300 | ASXL2 | c.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 |
2 | g.25742433_25742436del | CA2658189301 | ASXL2 | c.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 |
2 | g.25742428G>A | CA1557399 | ASXL2 | c.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 |
2 | g.25742428G>C | CA346075297 | ASXL2 | c.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) | |
2 | g.25742428G= | CA1239490465 | ASXL2 | c.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=) | |
2 | g.25742428G>T | CA346075300 | ASXL2 | c.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 |
2 | g.25742429T>A | CA346075303 | ASXL2 | c.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) | |
2 | g.25742429T>C | CA346075304 | ASXL2 | c.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 |
2 | g.25742429T>G | CA346075306 | ASXL2 | c.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 |
2 | g.25742429T= | CA1239490466 | ASXL2 | c.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=) | |
2 | g.25742430G>A | CA346075311 | ASXL2 | c.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 |
2 | g.25742430G>C | CA346075313 | ASXL2 | c.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) | |
2 | g.25742430G>T | CA346075315 | ASXL2 | c.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 |
2 | g.25742432del | CA2658189302 | ASXL2 | c.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 |
2 | g.25742431G>A | CA425354889 | ASXL2 | c.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 |
2 | g.25742431G>C | CA425354890 | ASXL2 | c.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 |
2 | g.25742431G= | CA1239490467 | ASXL2 | c.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=) | |
2 | g.25742431G>T | CA425354891 | ASXL2 | c.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 |
2 | g.25742432G>A | CA346075322 | ASXL2 | c.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) | |
2 | g.25742432G>C | CA346075324 | ASXL2 | c.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) | |
2 | g.25742432G>T | CA346075318 | ASXL2 | c.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 |
2 | g.25742433T>A | CA346075326 | ASXL2 | c.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) | |
2 | g.25742433T>C | CA346075329 | ASXL2 | c.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 |
2 | g.25742433T>G | CA1557400 | ASXL2 | c.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 |
2 | g.25742433T= | CA1239490468 | ASXL2 | c.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=) | |
2 | g.25742434G>A | CA425354902 | ASXL2 | c.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 |
2 | g.25742434G>C | CA425354906 | ASXL2 | c.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=) | |
2 | g.25742434G= | CA1239490469 | ASXL2 | c.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=) | |
2 | g.25742434G>T | CA425354907 | ASXL2 | c.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=) | |
2 | g.25742435G>A | CA43734282 | ASXL2 | c.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 |
2 | g.25742435G>C | CA346075335 | ASXL2 | c.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) | |
2 | g.25742435G= | CA1239490470 | ASXL2 | c.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=) | |
2 | g.25742435G>T | CA346075338 | ASXL2 | c.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 |
2 | g.25742436G>A | CA43734285 | ASXL2 | c.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 |
2 | g.25742436G>C | CA346075341 | ASXL2 | c.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 |
2 | g.25742436G= | CA1239490471 | ASXL2 | c.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=) | |
2 | g.25742436G>T | CA1557401 | ASXL2 | c.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 |
2 | g.25742437G>A | CA1557402 | ASXL2 | c.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 |
2 | g.25742437G>C | CA346075356 | ASXL2 | c.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 |
2 | g.25742437G= | CA1239490472 | ASXL2 | c.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=) | |
2 | g.25742437G>T | CA346075358 | ASXL2 | c.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 |
2 | g.25742437_25742438insGGCC | CA2576695355 | ASXL2 | c.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) | |
2 | g.25742437_25742438insGGGC | CA2576695354 | ASXL2 | c.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) | |
2 | g.25742438C>A | CA346075362 | ASXL2 | c.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) | |
2 | g.25742438C>G | CA346075364 | ASXL2 | c.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) | |
2 | g.25742438C>T | CA346075367 | ASXL2 | c.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 |
2 | g.25742438_25742439insCC | CA2576695356 | ASXL2 | c.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) | |
2 | g.25742438dup | CA2576695357 | ASXL2 | c.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) | |
2 | g.25742439T>A | CA346075371 | ASXL2 | c.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) | |
2 | g.25742439T>C | CA346075377 | ASXL2 | c.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 |
2 | g.25742439T>G | CA346075373 | ASXL2 | c.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) | |
2 | g.25742439T= | CA1239490473 | ASXL2 | c.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=) | |
2 | g.25742439_25742440insAGATCGGAAGAGC | CA2533243214 | ASXL2 | c.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) | |
2 | g.25742440G>A | CA425354920 | ASXL2 | c.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 |
2 | g.25742440G>C | CA346075379 | ASXL2 | c.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) | |
2 | g.25742440G>T | CA346075381 | ASXL2 | c.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) | |
2 | g.25742441T>A | CA346075383 | ASXL2 | c.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) | |
2 | g.25742441T>C | CA1557403 | ASXL2 | c.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 |
2 | g.25742441T>G | CA346075388 | ASXL2 | c.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) | |
2 | g.25742441T= | CA1239490474 | ASXL2 | c.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=) | |
2 | g.25742442C>A | CA346075393 | ASXL2 | c.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) | |
2 | g.25742442C>G | CA346075395 | ASXL2 | c.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) | |
2 | g.25742442C>T | CA346075396 | ASXL2 | c.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 |
2 | g.25742443T>A | CA425354928 | ASXL2 | c.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=) | |
2 | g.25742443T>C | CA1557404 | ASXL2 | c.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 |
2 | g.25742443T>G | CA425354929 | ASXL2 | c.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=) | |
2 | g.25742443T= | CA1239490475 | ASXL2 | c.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=) | |
2 | g.25742444G>A | CA346075398 | ASXL2 | c.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 |
2 | g.25742444G>C | CA346075400 | ASXL2 | c.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) | |
2 | g.25742444G>T | CA346075397 | ASXL2 | c.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 |
2 | g.25742445C>A | CA346075402 | ASXL2 | c.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) | |
2 | g.25742445C>G | CA346075405 | ASXL2 | c.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 |
2 | g.25742445C>T | CA346075407 | ASXL2 | c.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 |
2 | g.25742446A= | CA1239490476 | ASXL2 | c.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=) | |
2 | g.25742446A>C | CA1557405 | ASXL2 | c.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 |
2 | g.25742446A>G | CA425354940 | ASXL2 | c.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=) | |
2 | g.25742446A>T | CA425354941 | ASXL2 | c.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=) | |
2 | g.25742447G>A | CA346075414 | ASXL2 | c.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 |
2 | g.25742447G>C | CA346075416 | ASXL2 | c.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) | |
2 | g.25742447G= | CA1239490477 | ASXL2 | c.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=) | |
2 | g.25742447G>T | CA346075418 | ASXL2 | c.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 |
2 | g.25742448G>A | CA346075424 | ASXL2 | c.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 |
2 | g.25742448G>C | CA346075425 | ASXL2 | c.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) | |
2 | g.25742448G= | CA1239490478 | ASXL2 | c.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=) | |
2 | g.25742448G>T | CA346075427 | ASXL2 | c.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) | |
2 | g.25742449C>A | CA425354944 | ASXL2 | c.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=) | |
2 | g.25742449C>G | CA425354945 | ASXL2 | c.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=) | |
2 | g.25742449C>T | CA425354946 | ASXL2 | c.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=) | |
2 | g.25742450A>C | CA346075429 | ASXL2 | c.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) | |
2 | g.25742450A>G | CA346075432 | ASXL2 | c.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) | |
2 | g.25742450A>T | CA346075434 | ASXL2 | c.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 |
2 | g.25742451G>A | CA425354950 | ASXL2 | c.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 |
2 | g.25742451G>C | CA346075441 | ASXL2 | c.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) | |
2 | g.25742451G= | CA1239490479 | ASXL2 | c.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=) | |
2 | g.25742451G>T | CA346075439 | ASXL2 | c.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) | |
2 | g.25742452A>C | CA425354954 | ASXL2 | c.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=) | |
2 | g.25742452A>G | CA425354952 | ASXL2 | c.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=) | |
2 | g.25742452A>T | CA425354953 | ASXL2 | c.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=) | |
2 | g.25742453G>A | CA346075444 | ASXL2 | c.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 |
2 | g.25742453G>C | CA346075446 | ASXL2 | c.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) | |
2 | g.25742453G>T | CA346075450 | ASXL2 | c.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) | |
2 | g.25742454G>A | CA346075454 | ASXL2 | c.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 |
2 | g.25742454G>C | CA346075456 | ASXL2 | c.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 |
2 | g.25742454G= | CA1239490480 | ASXL2 | c.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=) | |
2 | g.25742454G>T | CA346075460 | ASXL2 | c.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) | |
2 | g.25742455A= | CA1239490481 | ASXL2 | c.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=) | |
2 | g.25742455A>C | CA425354959 | ASXL2 | c.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=) | |
2 | g.25742455A>G | CA425354964 | ASXL2 | c.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=) | |
2 | g.25742455A>T | CA1557406 | ASXL2 | c.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 |
2 | g.25742456A= | CA1239490482 | ASXL2 | c.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=) | |
2 | g.25742456A>C | CA346075467 | ASXL2 | c.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) | |
2 | g.25742456A>G | CA346075470 | ASXL2 | c.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 |
2 | g.25742456A>T | CA346075472 | ASXL2 | c.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) | |
2 | g.25742457G>A | CA43734294 | ASXL2 | c.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 |
2 | g.25742457G>C | CA346075478 | ASXL2 | c.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 |
2 | g.25742457G= | CA1239490483 | ASXL2 | c.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=) | |
2 | g.25742457G>T | CA346075480 | ASXL2 | c.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) | |
2 | g.25742458A>C | CA425354970 | ASXL2 | c.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=) | |
2 | g.25742458A>G | CA425354972 | ASXL2 | c.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=) | |
2 | g.25742458A>T | CA425354974 | ASXL2 | c.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=) | |
2 | g.25742459A>C | CA346075490 | ASXL2 | c.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) | |
2 | g.25742459A>G | CA346075487 | ASXL2 | c.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) | |
2 | g.25742459A>T | CA346075484 | ASXL2 | c.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) | |
2 | g.25742460C>A | CA346075495 | ASXL2 | c.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 |
2 | g.25742460C= | CA1239490484 | ASXL2 | c.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=) | |
2 | g.25742460C>G | CA43734296 | ASXL2 | c.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 |
2 | g.25742460C>T | CA346075498 | ASXL2 | c.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) | |
2 | g.25742461A= | CA1239490485 | ASXL2 | c.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=) | |
2 | g.25742461A>C | CA425354980 | ASXL2 | c.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=) | |
2 | g.25742461A>G | CA425354981 | ASXL2 | c.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 |
2 | g.25742461A>T | CA425354982 | ASXL2 | c.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=) | |
2 | g.25742462G>A | CA1557407 | ASXL2 | c.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 |
2 | g.25742462G>C | CA346075506 | ASXL2 | c.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 |
2 | g.25742462G= | CA1239490486 | ASXL2 | c.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=) | |
2 | g.25742462G>T | CA346075508 | ASXL2 | c.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) | |
2 | g.25742463T>A | CA346075510 | ASXL2 | c.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) | |
2 | g.25742463T>C | CA1557408 | ASXL2 | c.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 |
2 | g.25742463T>G | CA346075513 | ASXL2 | c.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) | |
2 | g.25742463T= | CA1239490487 | ASXL2 | c.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=) | |
2 | g.25742465_25742488dup | CA2658189303 | ASXL2 | c.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 |
2 | g.25742464A>C | CA425354988 | ASXL2 | c.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=) | |
2 | g.25742464A>G | CA425354989 | ASXL2 | c.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=) | |
2 | g.25742464A>T | CA425354990 | ASXL2 | c.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=) | |
2 | g.25742465G>A | CA346075516 | ASXL2 | c.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) | |
2 | g.25742465G>C | CA346075518 | ASXL2 | c.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 |
2 | g.25742465G= | CA1239490488 | ASXL2 | c.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=) | |
2 | g.25742465G>T | CA346075519 | ASXL2 | c.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) | |
2 | g.25742466A>C | CA346075521 | ASXL2 | c.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) | |
2 | g.25742466A>G | CA346075522 | ASXL2 | c.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) | |
2 | g.25742466A>T | CA346075523 | ASXL2 | c.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) | |
2 | g.25742467A>C | CA346075528 | ASXL2 | c.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) | |
2 | g.25742467A>G | CA425353680 | ASXL2 | c.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=) | |
2 | g.25742467A>T | CA346075526 | ASXL2 | c.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) | |
2 | g.25742468C>A | CA346075530 | ASXL2 | c.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) | |
2 | g.25742468C>G | CA346075532 | ASXL2 | c.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 |
2 | g.25742468C>T | CA346075535 | ASXL2 | c.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 |
2 | g.25742469T>A | CA346075537 | ASXL2 | c.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) | |
2 | g.25742469T>C | CA346075539 | ASXL2 | c.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) | |
2 | g.25742469T>G | CA346075541 | ASXL2 | c.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) | |
2 | g.25742470G>A | CA425353681 | ASXL2 | c.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=) | |
2 | g.25742470G>C | CA346075545 | ASXL2 | c.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) | |
2 | g.25742470G>T | CA346075544 | ASXL2 | c.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) | |
2 | g.25742471A>C | CA346075547 | ASXL2 | c.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) | |
2 | g.25742471A>G | CA346075549 | ASXL2 | c.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) | |
2 | g.25742471A>T | CA346075552 | ASXL2 | c.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) | |
2 | g.25742472A>C | CA346075555 | ASXL2 | c.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) | |
2 | g.25742472A>G | CA346075557 | ASXL2 | c.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) | |
2 | g.25742472A>T | CA346075558 | ASXL2 | c.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) | |
2 | g.25742473A>C | CA425353684 | ASXL2 | c.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 |
2 | g.25742473A>G | CA425353682 | ASXL2 | c.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=) | |
2 | g.25742473A>T | CA425353683 | ASXL2 | c.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=) | |
2 | g.25742474A= | CA1239490489 | ASXL2 | c.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=) | |
2 | g.25742474A>C | CA346075562 | ASXL2 | c.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 |
2 | g.25742474A>G | CA346075565 | ASXL2 | c.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) | |
2 | g.25742474A>T | CA346075563 | ASXL2 | c.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) | |
2 | g.25742475G>A | CA346075566 | ASXL2 | c.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) | |
2 | g.25742475G>C | CA346075567 | ASXL2 | c.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) | |
2 | g.25742475G>T | CA346075568 | ASXL2 | c.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 |
2 | g.25742476C>A | CA346075569 | ASXL2 | c.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) | |
2 | g.25742476C= | CA1239490490 | ASXL2 | c.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=) | |
2 | g.25742476C>G | CA346075570 | ASXL2 | c.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) | |
2 | g.25742476C>T | CA425353685 | ASXL2 | c.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 |
2 | g.25742477T>A | CA346075571 | ASXL2 | c.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) | |
2 | g.25742477T>C | CA346075572 | ASXL2 | c.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) | |
2 | g.25742477T>G | CA346075573 | ASXL2 | c.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) | |
2 | g.25742478C>A | CA346075575 | ASXL2 | c.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) | |
2 | g.25742478C= | CA1239490491 | ASXL2 | c.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=) | |
2 | g.25742478C>G | CA346075576 | ASXL2 | c.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 |
2 | g.25742478C>T | CA1557409 | ASXL2 | c.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 |
2 | g.25742479G>A | CA1557410 | ASXL2 | c.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 |
2 | g.25742479G>C | CA425353686 | ASXL2 | c.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 |
2 | g.25742479G= | CA1239490492 | ASXL2 | c.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=) | |
2 | g.25742479G>T | CA425353687 | ASXL2 | c.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=) | |
2 | g.25742480G>A | CA346075586 | ASXL2 | c.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 |
2 | g.25742480G>C | CA346075589 | ASXL2 | c.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) | |
2 | g.25742480G>T | CA346075583 | ASXL2 | c.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) | |
2 | g.25742481G>A | CA346075592 | ASXL2 | c.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 |
2 | g.25742481G>C | CA346075595 | ASXL2 | c.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 |
2 | g.25742481G= | CA1239490493 | ASXL2 | c.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=) | |
2 | g.25742481G>T | CA346075598 | ASXL2 | c.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) | |
2 | g.25742482G>A | CA425353688 | ASXL2 | c.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=) | |
2 | g.25742482G>C | CA346075601 | ASXL2 | c.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) | |
2 | g.25742482G>T | CA346075604 | ASXL2 | c.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) | |
2 | g.25742483C>A | CA346075613 | ASXL2 | c.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 |
2 | g.25742483C>G | CA346075608 | ASXL2 | c.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) | |
2 | g.25742483C>T | CA346075610 | ASXL2 | c.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) | |
2 | g.25742483_25742484delinsCT | CA1239490494 | ASXL2 | c.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=) | |
2 | g.25742484del | CA531761030 | ASXL2 | c.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 |
2 | g.25742484T>A | CA346075615 | ASXL2 | c.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) | |
2 | g.25742484T>C | CA346075617 | ASXL2 | c.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) | |
2 | g.25742484T>G | CA346075618 | ASXL2 | c.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) |