Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.32436619A>C | CA408564046 | ASXL1 | c.3907A>C (p.Lys1303Gln) c.3724A>C (p.Lys1242Gln) n.6260A>C c.1870-1811A>C (n.1870-1811A>C) c.3892A>C (p.Lys1298Gln) c.3904A>C (p.Lys1302Gln) c.3877A>C (p.Lys1293Gln) c.3823A>C (p.Lys1275Gln) c.3223A>C (p.Lys1075Gln) c.4171A>C (p.Lys1391Gln) c.4168A>C (p.Lys1390Gln) c.4087A>C (p.Lys1363Gln) c.4018A>C (p.Lys1340Gln) c.3886A>C (p.Lys1296Gln) c.3754A>C (p.Lys1252Gln) | gnomAD v4 |
20 | g.32436619A>G | CA408564047 | ASXL1 | c.3907A>G (p.Lys1303Glu) c.3724A>G (p.Lys1242Glu) n.6260A>G c.1870-1811A>G (n.1870-1811A>G) c.3892A>G (p.Lys1298Glu) c.3904A>G (p.Lys1302Glu) c.3877A>G (p.Lys1293Glu) c.3823A>G (p.Lys1275Glu) c.3223A>G (p.Lys1075Glu) c.4171A>G (p.Lys1391Glu) c.4168A>G (p.Lys1390Glu) c.4087A>G (p.Lys1363Glu) c.4018A>G (p.Lys1340Glu) c.3886A>G (p.Lys1296Glu) c.3754A>G (p.Lys1252Glu) | |
20 | g.32436619A>T | CA408564048 | ASXL1 | c.3907A>T (p.Lys1303Ter) c.3724A>T (p.Lys1242Ter) n.6260A>T c.1870-1811A>T (n.1870-1811A>T) c.3892A>T (p.Lys1298Ter) c.3904A>T (p.Lys1302Ter) c.3877A>T (p.Lys1293Ter) c.3823A>T (p.Lys1275Ter) c.3223A>T (p.Lys1075Ter) c.4171A>T (p.Lys1391Ter) c.4168A>T (p.Lys1390Ter) c.4087A>T (p.Lys1363Ter) c.4018A>T (p.Lys1340Ter) c.3886A>T (p.Lys1296Ter) c.3754A>T (p.Lys1252Ter) | |
20 | g.32436620A>C | CA408564050 | ASXL1 | c.3908A>C (p.Lys1303Thr) c.3725A>C (p.Lys1242Thr) n.6261A>C c.1870-1810A>C (n.1870-1810A>C) c.3893A>C (p.Lys1298Thr) c.3905A>C (p.Lys1302Thr) c.3878A>C (p.Lys1293Thr) c.3824A>C (p.Lys1275Thr) c.3224A>C (p.Lys1075Thr) c.4172A>C (p.Lys1391Thr) c.4169A>C (p.Lys1390Thr) c.4088A>C (p.Lys1363Thr) c.4019A>C (p.Lys1340Thr) c.3887A>C (p.Lys1296Thr) c.3755A>C (p.Lys1252Thr) | |
20 | g.32436620A>G | CA408564051 | ASXL1 | c.3908A>G (p.Lys1303Arg) c.3725A>G (p.Lys1242Arg) n.6261A>G c.1870-1810A>G (n.1870-1810A>G) c.3893A>G (p.Lys1298Arg) c.3905A>G (p.Lys1302Arg) c.3878A>G (p.Lys1293Arg) c.3824A>G (p.Lys1275Arg) c.3224A>G (p.Lys1075Arg) c.4172A>G (p.Lys1391Arg) c.4169A>G (p.Lys1390Arg) c.4088A>G (p.Lys1363Arg) c.4019A>G (p.Lys1340Arg) c.3887A>G (p.Lys1296Arg) c.3755A>G (p.Lys1252Arg) | |
20 | g.32436620A>T | CA408564049 | ASXL1 | c.3908A>T (p.Lys1303Met) c.3725A>T (p.Lys1242Met) n.6261A>T c.1870-1810A>T (n.1870-1810A>T) c.3893A>T (p.Lys1298Met) c.3905A>T (p.Lys1302Met) c.3878A>T (p.Lys1293Met) c.3824A>T (p.Lys1275Met) c.3224A>T (p.Lys1075Met) c.4172A>T (p.Lys1391Met) c.4169A>T (p.Lys1390Met) c.4088A>T (p.Lys1363Met) c.4019A>T (p.Lys1340Met) c.3887A>T (p.Lys1296Met) c.3755A>T (p.Lys1252Met) | |
20 | g.32436621G>A | CA510467486 | ASXL1 | c.3909G>A (p.Lys1303=) c.3726G>A (p.Lys1242=) n.6262G>A c.1870-1809G>A (n.1870-1809G>A) c.3894G>A (p.Lys1298=) c.3906G>A (p.Lys1302=) c.3879G>A (p.Lys1293=) c.3825G>A (p.Lys1275=) c.3225G>A (p.Lys1075=) c.4173G>A (p.Lys1391=) c.4170G>A (p.Lys1390=) c.4089G>A (p.Lys1363=) c.4020G>A (p.Lys1340=) c.3888G>A (p.Lys1296=) c.3756G>A (p.Lys1252=) | dbSNP |
20 | g.32436621G>C | CA408564052 | ASXL1 | c.3909G>C (p.Lys1303Asn) c.3726G>C (p.Lys1242Asn) n.6262G>C c.1870-1809G>C (n.1870-1809G>C) c.3894G>C (p.Lys1298Asn) c.3906G>C (p.Lys1302Asn) c.3879G>C (p.Lys1293Asn) c.3825G>C (p.Lys1275Asn) c.3225G>C (p.Lys1075Asn) c.4173G>C (p.Lys1391Asn) c.4170G>C (p.Lys1390Asn) c.4089G>C (p.Lys1363Asn) c.4020G>C (p.Lys1340Asn) c.3888G>C (p.Lys1296Asn) c.3756G>C (p.Lys1252Asn) | |
20 | g.32436621G= | CA2360293790 | ASXL1 | c.3909G= (p.Lys1303=) c.3726G= (p.Lys1242=) n.6262G= c.1870-1809G= (n.1870-1809G=) c.3894G= (p.Lys1298=) c.3906G= (p.Lys1302=) c.3879G= (p.Lys1293=) c.3825G= (p.Lys1275=) c.3225G= (p.Lys1075=) c.4173G= (p.Lys1391=) c.4170G= (p.Lys1390=) c.4089G= (p.Lys1363=) c.4020G= (p.Lys1340=) c.3888G= (p.Lys1296=) c.3756G= (p.Lys1252=) | |
20 | g.32436621G>T | CA408564053 | ASXL1 | c.3909G>T (p.Lys1303Asn) c.3726G>T (p.Lys1242Asn) n.6262G>T c.1870-1809G>T (n.1870-1809G>T) c.3894G>T (p.Lys1298Asn) c.3906G>T (p.Lys1302Asn) c.3879G>T (p.Lys1293Asn) c.3825G>T (p.Lys1275Asn) c.3225G>T (p.Lys1075Asn) c.4173G>T (p.Lys1391Asn) c.4170G>T (p.Lys1390Asn) c.4089G>T (p.Lys1363Asn) c.4020G>T (p.Lys1340Asn) c.3888G>T (p.Lys1296Asn) c.3756G>T (p.Lys1252Asn) | |
20 | g.32436622del | CA2652401272 | ASXL1 | c.3910del (p.Leu1304PhefsTer?) c.3727del (p.Leu1243PhefsTer?) n.6263del c.1870-1808del (n.1870-1808del) c.3895del (p.Leu1299PhefsTer?) c.3907del (p.Leu1303PhefsTer?) c.3880del (p.Leu1294PhefsTer?) c.3826del (p.Leu1276PhefsTer?) c.3226del (p.Leu1076PhefsTer?) c.4174del (p.Leu1392PhefsTer?) c.4171del (p.Leu1391PhefsTer?) c.4090del (p.Leu1364PhefsTer?) c.4021del (p.Leu1341PhefsTer?) c.3889del (p.Leu1297PhefsTer?) c.3757del (p.Leu1253PhefsTer?) | gnomAD v4 |
20 | g.32436622C>A | CA9808923 | ASXL1 | c.3910C>A (p.Leu1304Ile) c.3727C>A (p.Leu1243Ile) n.6263C>A c.1870-1808C>A (n.1870-1808C>A) c.3895C>A (p.Leu1299Ile) c.3907C>A (p.Leu1303Ile) c.3880C>A (p.Leu1294Ile) c.3826C>A (p.Leu1276Ile) c.3226C>A (p.Leu1076Ile) c.4174C>A (p.Leu1392Ile) c.4171C>A (p.Leu1391Ile) c.4090C>A (p.Leu1364Ile) c.4021C>A (p.Leu1341Ile) c.3889C>A (p.Leu1297Ile) c.3757C>A (p.Leu1253Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436622C= | CA2360293791 | ASXL1 | c.3910C= (p.Leu1304=) c.3727C= (p.Leu1243=) n.6263C= c.1870-1808C= (n.1870-1808C=) c.3895C= (p.Leu1299=) c.3907C= (p.Leu1303=) c.3880C= (p.Leu1294=) c.3826C= (p.Leu1276=) c.3226C= (p.Leu1076=) c.4174C= (p.Leu1392=) c.4171C= (p.Leu1391=) c.4090C= (p.Leu1364=) c.4021C= (p.Leu1341=) c.3889C= (p.Leu1297=) c.3757C= (p.Leu1253=) | |
20 | g.32436622C>G | CA9808922 | ASXL1 | c.3910C>G (p.Leu1304Val) c.3727C>G (p.Leu1243Val) n.6263C>G c.1870-1808C>G (n.1870-1808C>G) c.3895C>G (p.Leu1299Val) c.3907C>G (p.Leu1303Val) c.3880C>G (p.Leu1294Val) c.3826C>G (p.Leu1276Val) c.3226C>G (p.Leu1076Val) c.4174C>G (p.Leu1392Val) c.4171C>G (p.Leu1391Val) c.4090C>G (p.Leu1364Val) c.4021C>G (p.Leu1341Val) c.3889C>G (p.Leu1297Val) c.3757C>G (p.Leu1253Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436622C>T | CA408564054 | ASXL1 | c.3910C>T (p.Leu1304Phe) c.3727C>T (p.Leu1243Phe) n.6263C>T c.1870-1808C>T (n.1870-1808C>T) c.3895C>T (p.Leu1299Phe) c.3907C>T (p.Leu1303Phe) c.3880C>T (p.Leu1294Phe) c.3826C>T (p.Leu1276Phe) c.3226C>T (p.Leu1076Phe) c.4174C>T (p.Leu1392Phe) c.4171C>T (p.Leu1391Phe) c.4090C>T (p.Leu1364Phe) c.4021C>T (p.Leu1341Phe) c.3889C>T (p.Leu1297Phe) c.3757C>T (p.Leu1253Phe) | |
20 | g.32436623T>A | CA408564055 | ASXL1 | c.3911T>A (p.Leu1304His) c.3728T>A (p.Leu1243His) n.6264T>A c.1870-1807T>A (n.1870-1807T>A) c.3896T>A (p.Leu1299His) c.3908T>A (p.Leu1303His) c.3881T>A (p.Leu1294His) c.3827T>A (p.Leu1276His) c.3227T>A (p.Leu1076His) c.4175T>A (p.Leu1392His) c.4172T>A (p.Leu1391His) c.4091T>A (p.Leu1364His) c.4022T>A (p.Leu1341His) c.3890T>A (p.Leu1297His) c.3758T>A (p.Leu1253His) | COSMIC COSMIC |
20 | g.32436623T>C | CA408564056 | ASXL1 | c.3911T>C (p.Leu1304Pro) c.3728T>C (p.Leu1243Pro) n.6264T>C c.1870-1807T>C (n.1870-1807T>C) c.3896T>C (p.Leu1299Pro) c.3908T>C (p.Leu1303Pro) c.3881T>C (p.Leu1294Pro) c.3827T>C (p.Leu1276Pro) c.3227T>C (p.Leu1076Pro) c.4175T>C (p.Leu1392Pro) c.4172T>C (p.Leu1391Pro) c.4091T>C (p.Leu1364Pro) c.4022T>C (p.Leu1341Pro) c.3890T>C (p.Leu1297Pro) c.3758T>C (p.Leu1253Pro) | |
20 | g.32436623T>G | CA408564057 | ASXL1 | c.3911T>G (p.Leu1304Arg) c.3728T>G (p.Leu1243Arg) n.6264T>G c.1870-1807T>G (n.1870-1807T>G) c.3896T>G (p.Leu1299Arg) c.3908T>G (p.Leu1303Arg) c.3881T>G (p.Leu1294Arg) c.3827T>G (p.Leu1276Arg) c.3227T>G (p.Leu1076Arg) c.4175T>G (p.Leu1392Arg) c.4172T>G (p.Leu1391Arg) c.4091T>G (p.Leu1364Arg) c.4022T>G (p.Leu1341Arg) c.3890T>G (p.Leu1297Arg) c.3758T>G (p.Leu1253Arg) | |
20 | g.32436627del | CA2652401274 | ASXL1 | c.3915del (p.Phe1305LeufsTer?) c.3732del (p.Phe1244LeufsTer?) n.6268del c.1870-1803del (n.1870-1803del) c.3900del (p.Phe1300LeufsTer?) c.3912del (p.Phe1304LeufsTer?) c.3885del (p.Phe1295LeufsTer?) c.3831del (p.Phe1277LeufsTer?) c.3231del (p.Phe1077LeufsTer?) c.4179del (p.Phe1393LeufsTer?) c.4176del (p.Phe1392LeufsTer?) c.4095del (p.Phe1365LeufsTer?) c.4026del (p.Phe1342LeufsTer?) c.3894del (p.Phe1298LeufsTer?) c.3762del (p.Phe1254LeufsTer?) | dbSNP gnomAD v4 |
20 | g.32436626_32436627del | CA2652401273 | ASXL1 | c.3914_3915del (p.Phe1305TrpfsTer23) c.3731_3732del (p.Phe1244TrpfsTer23) n.6267_6268del c.1870-1804_1870-1803del (n.1870-1804_1870-1803del) c.3899_3900del (p.Phe1300TrpfsTer23) c.3911_3912del (p.Phe1304TrpfsTer23) c.3884_3885del (p.Phe1295TrpfsTer23) c.3830_3831del (p.Phe1277TrpfsTer23) c.3230_3231del (p.Phe1077TrpfsTer23) c.4178_4179del (p.Phe1393TrpfsTer23) c.4175_4176del (p.Phe1392TrpfsTer23) c.4094_4095del (p.Phe1365TrpfsTer23) c.4025_4026del (p.Phe1342TrpfsTer23) c.3893_3894del (p.Phe1298TrpfsTer23) c.3761_3762del (p.Phe1254TrpfsTer23) | gnomAD v4 |
20 | g.32436624T>A | CA510467487 | ASXL1 | c.3912T>A (p.Leu1304=) c.3729T>A (p.Leu1243=) n.6265T>A c.1870-1806T>A (n.1870-1806T>A) c.3897T>A (p.Leu1299=) c.3909T>A (p.Leu1303=) c.3882T>A (p.Leu1294=) c.3828T>A (p.Leu1276=) c.3228T>A (p.Leu1076=) c.4176T>A (p.Leu1392=) c.4173T>A (p.Leu1391=) c.4092T>A (p.Leu1364=) c.4023T>A (p.Leu1341=) c.3891T>A (p.Leu1297=) c.3759T>A (p.Leu1253=) | |
20 | g.32436624T>C | CA9808924 | ASXL1 | c.3912T>C (p.Leu1304=) c.3729T>C (p.Leu1243=) n.6265T>C c.1870-1806T>C (n.1870-1806T>C) c.3897T>C (p.Leu1299=) c.3909T>C (p.Leu1303=) c.3882T>C (p.Leu1294=) c.3828T>C (p.Leu1276=) c.3228T>C (p.Leu1076=) c.4176T>C (p.Leu1392=) c.4173T>C (p.Leu1391=) c.4092T>C (p.Leu1364=) c.4023T>C (p.Leu1341=) c.3891T>C (p.Leu1297=) c.3759T>C (p.Leu1253=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436624T>G | CA510467488 | ASXL1 | c.3912T>G (p.Leu1304=) c.3729T>G (p.Leu1243=) n.6265T>G c.1870-1806T>G (n.1870-1806T>G) c.3897T>G (p.Leu1299=) c.3909T>G (p.Leu1303=) c.3882T>G (p.Leu1294=) c.3828T>G (p.Leu1276=) c.3228T>G (p.Leu1076=) c.4176T>G (p.Leu1392=) c.4173T>G (p.Leu1391=) c.4092T>G (p.Leu1364=) c.4023T>G (p.Leu1341=) c.3891T>G (p.Leu1297=) c.3759T>G (p.Leu1253=) | |
20 | g.32436624T= | CA2360293792 | ASXL1 | c.3912T= (p.Leu1304=) c.3729T= (p.Leu1243=) n.6265T= c.1870-1806T= (n.1870-1806T=) c.3897T= (p.Leu1299=) c.3909T= (p.Leu1303=) c.3882T= (p.Leu1294=) c.3828T= (p.Leu1276=) c.3228T= (p.Leu1076=) c.4176T= (p.Leu1392=) c.4173T= (p.Leu1391=) c.4092T= (p.Leu1364=) c.4023T= (p.Leu1341=) c.3891T= (p.Leu1297=) c.3759T= (p.Leu1253=) | |
20 | g.32436625T>A | CA408564058 | ASXL1 | c.3913T>A (p.Phe1305Ile) c.3730T>A (p.Phe1244Ile) n.6266T>A c.1870-1805T>A (n.1870-1805T>A) c.3898T>A (p.Phe1300Ile) c.3910T>A (p.Phe1304Ile) c.3883T>A (p.Phe1295Ile) c.3829T>A (p.Phe1277Ile) c.3229T>A (p.Phe1077Ile) c.4177T>A (p.Phe1393Ile) c.4174T>A (p.Phe1392Ile) c.4093T>A (p.Phe1365Ile) c.4024T>A (p.Phe1342Ile) c.3892T>A (p.Phe1298Ile) c.3760T>A (p.Phe1254Ile) | |
20 | g.32436625T>C | CA408564059 | ASXL1 | c.3913T>C (p.Phe1305Leu) c.3730T>C (p.Phe1244Leu) n.6266T>C c.1870-1805T>C (n.1870-1805T>C) c.3898T>C (p.Phe1300Leu) c.3910T>C (p.Phe1304Leu) c.3883T>C (p.Phe1295Leu) c.3829T>C (p.Phe1277Leu) c.3229T>C (p.Phe1077Leu) c.4177T>C (p.Phe1393Leu) c.4174T>C (p.Phe1392Leu) c.4093T>C (p.Phe1365Leu) c.4024T>C (p.Phe1342Leu) c.3892T>C (p.Phe1298Leu) c.3760T>C (p.Phe1254Leu) | dbSNP gnomAD v4 |
20 | g.32436625T>G | CA408564060 | ASXL1 | c.3913T>G (p.Phe1305Val) c.3730T>G (p.Phe1244Val) n.6266T>G c.1870-1805T>G (n.1870-1805T>G) c.3898T>G (p.Phe1300Val) c.3910T>G (p.Phe1304Val) c.3883T>G (p.Phe1295Val) c.3829T>G (p.Phe1277Val) c.3229T>G (p.Phe1077Val) c.4177T>G (p.Phe1393Val) c.4174T>G (p.Phe1392Val) c.4093T>G (p.Phe1365Val) c.4024T>G (p.Phe1342Val) c.3892T>G (p.Phe1298Val) c.3760T>G (p.Phe1254Val) | |
20 | g.32436625T= | CA2360293793 | ASXL1 | c.3913T= (p.Phe1305=) c.3730T= (p.Phe1244=) n.6266T= c.1870-1805T= (n.1870-1805T=) c.3898T= (p.Phe1300=) c.3910T= (p.Phe1304=) c.3883T= (p.Phe1295=) c.3829T= (p.Phe1277=) c.3229T= (p.Phe1077=) c.4177T= (p.Phe1393=) c.4174T= (p.Phe1392=) c.4093T= (p.Phe1365=) c.4024T= (p.Phe1342=) c.3892T= (p.Phe1298=) c.3760T= (p.Phe1254=) | |
20 | g.32436626T>A | CA10652454 | ASXL1 | c.3914T>A (p.Phe1305Tyr) c.3731T>A (p.Phe1244Tyr) n.6267T>A c.1870-1804T>A (n.1870-1804T>A) c.3899T>A (p.Phe1300Tyr) c.3911T>A (p.Phe1304Tyr) c.3884T>A (p.Phe1295Tyr) c.3830T>A (p.Phe1277Tyr) c.3230T>A (p.Phe1077Tyr) c.4178T>A (p.Phe1393Tyr) c.4175T>A (p.Phe1392Tyr) c.4094T>A (p.Phe1365Tyr) c.4025T>A (p.Phe1342Tyr) c.3893T>A (p.Phe1298Tyr) c.3761T>A (p.Phe1254Tyr) | dbSNP |
20 | g.32436626T>C | CA9808925 | ASXL1 | c.3914T>C (p.Phe1305Ser) c.3731T>C (p.Phe1244Ser) n.6267T>C c.1870-1804T>C (n.1870-1804T>C) c.3899T>C (p.Phe1300Ser) c.3911T>C (p.Phe1304Ser) c.3884T>C (p.Phe1295Ser) c.3830T>C (p.Phe1277Ser) c.3230T>C (p.Phe1077Ser) c.4178T>C (p.Phe1393Ser) c.4175T>C (p.Phe1392Ser) c.4094T>C (p.Phe1365Ser) c.4025T>C (p.Phe1342Ser) c.3893T>C (p.Phe1298Ser) c.3761T>C (p.Phe1254Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436626T>G | CA408564061 | ASXL1 | c.3914T>G (p.Phe1305Cys) c.3731T>G (p.Phe1244Cys) n.6267T>G c.1870-1804T>G (n.1870-1804T>G) c.3899T>G (p.Phe1300Cys) c.3911T>G (p.Phe1304Cys) c.3884T>G (p.Phe1295Cys) c.3830T>G (p.Phe1277Cys) c.3230T>G (p.Phe1077Cys) c.4178T>G (p.Phe1393Cys) c.4175T>G (p.Phe1392Cys) c.4094T>G (p.Phe1365Cys) c.4025T>G (p.Phe1342Cys) c.3893T>G (p.Phe1298Cys) c.3761T>G (p.Phe1254Cys) | ClinVar |
20 | g.32436626T= | CA2360293794 | ASXL1 | c.3914T= (p.Phe1305=) c.3731T= (p.Phe1244=) n.6267T= c.1870-1804T= (n.1870-1804T=) c.3899T= (p.Phe1300=) c.3911T= (p.Phe1304=) c.3884T= (p.Phe1295=) c.3830T= (p.Phe1277=) c.3230T= (p.Phe1077=) c.4178T= (p.Phe1393=) c.4175T= (p.Phe1392=) c.4094T= (p.Phe1365=) c.4025T= (p.Phe1342=) c.3893T= (p.Phe1298=) c.3761T= (p.Phe1254=) | |
20 | g.32436627T>A | CA408564062 | ASXL1 | c.3915T>A (p.Phe1305Leu) c.3732T>A (p.Phe1244Leu) n.6268T>A c.1870-1803T>A (n.1870-1803T>A) c.3900T>A (p.Phe1300Leu) c.3912T>A (p.Phe1304Leu) c.3885T>A (p.Phe1295Leu) c.3831T>A (p.Phe1277Leu) c.3231T>A (p.Phe1077Leu) c.4179T>A (p.Phe1393Leu) c.4176T>A (p.Phe1392Leu) c.4095T>A (p.Phe1365Leu) c.4026T>A (p.Phe1342Leu) c.3894T>A (p.Phe1298Leu) c.3762T>A (p.Phe1254Leu) | |
20 | g.32436627T>C | CA510467489 | ASXL1 | c.3915T>C (p.Phe1305=) c.3732T>C (p.Phe1244=) n.6268T>C c.1870-1803T>C (n.1870-1803T>C) c.3900T>C (p.Phe1300=) c.3912T>C (p.Phe1304=) c.3885T>C (p.Phe1295=) c.3831T>C (p.Phe1277=) c.3231T>C (p.Phe1077=) c.4179T>C (p.Phe1393=) c.4176T>C (p.Phe1392=) c.4095T>C (p.Phe1365=) c.4026T>C (p.Phe1342=) c.3894T>C (p.Phe1298=) c.3762T>C (p.Phe1254=) | |
20 | g.32436627T>G | CA408564063 | ASXL1 | c.3915T>G (p.Phe1305Leu) c.3732T>G (p.Phe1244Leu) n.6268T>G c.1870-1803T>G (n.1870-1803T>G) c.3900T>G (p.Phe1300Leu) c.3912T>G (p.Phe1304Leu) c.3885T>G (p.Phe1295Leu) c.3831T>G (p.Phe1277Leu) c.3231T>G (p.Phe1077Leu) c.4179T>G (p.Phe1393Leu) c.4176T>G (p.Phe1392Leu) c.4095T>G (p.Phe1365Leu) c.4026T>G (p.Phe1342Leu) c.3894T>G (p.Phe1298Leu) c.3762T>G (p.Phe1254Leu) | ClinVar dbSNP |
20 | g.32436628G>A | CA408564064 | ASXL1 | c.3916G>A (p.Gly1306Ser) c.3733G>A (p.Gly1245Ser) n.6269G>A c.1870-1802G>A (n.1870-1802G>A) c.3901G>A (p.Gly1301Ser) c.3913G>A (p.Gly1305Ser) c.3886G>A (p.Gly1296Ser) c.3832G>A (p.Gly1278Ser) c.3232G>A (p.Gly1078Ser) c.4180G>A (p.Gly1394Ser) c.4177G>A (p.Gly1393Ser) c.4096G>A (p.Gly1366Ser) c.4027G>A (p.Gly1343Ser) c.3895G>A (p.Gly1299Ser) c.3763G>A (p.Gly1255Ser) | |
20 | g.32436628G>C | CA408564065 | ASXL1 | c.3916G>C (p.Gly1306Arg) c.3733G>C (p.Gly1245Arg) n.6269G>C c.1870-1802G>C (n.1870-1802G>C) c.3901G>C (p.Gly1301Arg) c.3913G>C (p.Gly1305Arg) c.3886G>C (p.Gly1296Arg) c.3832G>C (p.Gly1278Arg) c.3232G>C (p.Gly1078Arg) c.4180G>C (p.Gly1394Arg) c.4177G>C (p.Gly1393Arg) c.4096G>C (p.Gly1366Arg) c.4027G>C (p.Gly1343Arg) c.3895G>C (p.Gly1299Arg) c.3763G>C (p.Gly1255Arg) | |
20 | g.32436628G>T | CA408564066 | ASXL1 | c.3916G>T (p.Gly1306Cys) c.3733G>T (p.Gly1245Cys) n.6269G>T c.1870-1802G>T (n.1870-1802G>T) c.3901G>T (p.Gly1301Cys) c.3913G>T (p.Gly1305Cys) c.3886G>T (p.Gly1296Cys) c.3832G>T (p.Gly1278Cys) c.3232G>T (p.Gly1078Cys) c.4180G>T (p.Gly1394Cys) c.4177G>T (p.Gly1393Cys) c.4096G>T (p.Gly1366Cys) c.4027G>T (p.Gly1343Cys) c.3895G>T (p.Gly1299Cys) c.3763G>T (p.Gly1255Cys) | |
20 | g.32436629G>A | CA9808926 | ASXL1 | c.3917G>A (p.Gly1306Asp) c.3734G>A (p.Gly1245Asp) n.6270G>A c.1870-1801G>A (n.1870-1801G>A) c.3902G>A (p.Gly1301Asp) c.3914G>A (p.Gly1305Asp) c.3887G>A (p.Gly1296Asp) c.3833G>A (p.Gly1278Asp) c.3233G>A (p.Gly1078Asp) c.4181G>A (p.Gly1394Asp) c.4178G>A (p.Gly1393Asp) c.4097G>A (p.Gly1366Asp) c.4028G>A (p.Gly1343Asp) c.3896G>A (p.Gly1299Asp) c.3764G>A (p.Gly1255Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436629G>C | CA408564067 | ASXL1 | c.3917G>C (p.Gly1306Ala) c.3734G>C (p.Gly1245Ala) n.6270G>C c.1870-1801G>C (n.1870-1801G>C) c.3902G>C (p.Gly1301Ala) c.3914G>C (p.Gly1305Ala) c.3887G>C (p.Gly1296Ala) c.3833G>C (p.Gly1278Ala) c.3233G>C (p.Gly1078Ala) c.4181G>C (p.Gly1394Ala) c.4178G>C (p.Gly1393Ala) c.4097G>C (p.Gly1366Ala) c.4028G>C (p.Gly1343Ala) c.3896G>C (p.Gly1299Ala) c.3764G>C (p.Gly1255Ala) | |
20 | g.32436629G= | CA2360293795 | ASXL1 | c.3917G= (p.Gly1306=) c.3734G= (p.Gly1245=) n.6270G= c.1870-1801G= (n.1870-1801G=) c.3902G= (p.Gly1301=) c.3914G= (p.Gly1305=) c.3887G= (p.Gly1296=) c.3833G= (p.Gly1278=) c.3233G= (p.Gly1078=) c.4181G= (p.Gly1394=) c.4178G= (p.Gly1393=) c.4097G= (p.Gly1366=) c.4028G= (p.Gly1343=) c.3896G= (p.Gly1299=) c.3764G= (p.Gly1255=) | |
20 | g.32436629G>T | CA313926367 | ASXL1 | c.3917G>T (p.Gly1306Val) c.3734G>T (p.Gly1245Val) n.6270G>T c.1870-1801G>T (n.1870-1801G>T) c.3902G>T (p.Gly1301Val) c.3914G>T (p.Gly1305Val) c.3887G>T (p.Gly1296Val) c.3833G>T (p.Gly1278Val) c.3233G>T (p.Gly1078Val) c.4181G>T (p.Gly1394Val) c.4178G>T (p.Gly1393Val) c.4097G>T (p.Gly1366Val) c.4028G>T (p.Gly1343Val) c.3896G>T (p.Gly1299Val) c.3764G>T (p.Gly1255Val) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436630C>A | CA510467490 | ASXL1 | c.3918C>A (p.Gly1306=) c.3735C>A (p.Gly1245=) n.6271C>A c.1870-1800C>A (n.1870-1800C>A) c.3903C>A (p.Gly1301=) c.3915C>A (p.Gly1305=) c.3888C>A (p.Gly1296=) c.3834C>A (p.Gly1278=) c.3234C>A (p.Gly1078=) c.4182C>A (p.Gly1394=) c.4179C>A (p.Gly1393=) c.4098C>A (p.Gly1366=) c.4029C>A (p.Gly1343=) c.3897C>A (p.Gly1299=) c.3765C>A (p.Gly1255=) | |
20 | g.32436630C= | CA2360293796 | ASXL1 | c.3918C= (p.Gly1306=) c.3735C= (p.Gly1245=) n.6271C= c.1870-1800C= (n.1870-1800C=) c.3903C= (p.Gly1301=) c.3915C= (p.Gly1305=) c.3888C= (p.Gly1296=) c.3834C= (p.Gly1278=) c.3234C= (p.Gly1078=) c.4182C= (p.Gly1394=) c.4179C= (p.Gly1393=) c.4098C= (p.Gly1366=) c.4029C= (p.Gly1343=) c.3897C= (p.Gly1299=) c.3765C= (p.Gly1255=) | |
20 | g.32436630C>G | CA510467492 | ASXL1 | c.3918C>G (p.Gly1306=) c.3735C>G (p.Gly1245=) n.6271C>G c.1870-1800C>G (n.1870-1800C>G) c.3903C>G (p.Gly1301=) c.3915C>G (p.Gly1305=) c.3888C>G (p.Gly1296=) c.3834C>G (p.Gly1278=) c.3234C>G (p.Gly1078=) c.4182C>G (p.Gly1394=) c.4179C>G (p.Gly1393=) c.4098C>G (p.Gly1366=) c.4029C>G (p.Gly1343=) c.3897C>G (p.Gly1299=) c.3765C>G (p.Gly1255=) | |
20 | g.32436630C>T | CA510467491 | ASXL1 | c.3918C>T (p.Gly1306=) c.3735C>T (p.Gly1245=) n.6271C>T c.1870-1800C>T (n.1870-1800C>T) c.3903C>T (p.Gly1301=) c.3915C>T (p.Gly1305=) c.3888C>T (p.Gly1296=) c.3834C>T (p.Gly1278=) c.3234C>T (p.Gly1078=) c.4182C>T (p.Gly1394=) c.4179C>T (p.Gly1393=) c.4098C>T (p.Gly1366=) c.4029C>T (p.Gly1343=) c.3897C>T (p.Gly1299=) c.3765C>T (p.Gly1255=) | dbSNP gnomAD v4 |
20 | g.32436631T>A | CA408564068 | ASXL1 | c.3919T>A (p.Ser1307Thr) c.3736T>A (p.Ser1246Thr) n.6272T>A c.1870-1799T>A (n.1870-1799T>A) c.3904T>A (p.Ser1302Thr) c.3916T>A (p.Ser1306Thr) c.3889T>A (p.Ser1297Thr) c.3835T>A (p.Ser1279Thr) c.3235T>A (p.Ser1079Thr) c.4183T>A (p.Ser1395Thr) c.4180T>A (p.Ser1394Thr) c.4099T>A (p.Ser1367Thr) c.4030T>A (p.Ser1344Thr) c.3898T>A (p.Ser1300Thr) c.3766T>A (p.Ser1256Thr) | |
20 | g.32436631T>C | CA408564069 | ASXL1 | c.3919T>C (p.Ser1307Pro) c.3736T>C (p.Ser1246Pro) n.6272T>C c.1870-1799T>C (n.1870-1799T>C) c.3904T>C (p.Ser1302Pro) c.3916T>C (p.Ser1306Pro) c.3889T>C (p.Ser1297Pro) c.3835T>C (p.Ser1279Pro) c.3235T>C (p.Ser1079Pro) c.4183T>C (p.Ser1395Pro) c.4180T>C (p.Ser1394Pro) c.4099T>C (p.Ser1367Pro) c.4030T>C (p.Ser1344Pro) c.3898T>C (p.Ser1300Pro) c.3766T>C (p.Ser1256Pro) | gnomAD v4 |
20 | g.32436631T>G | CA408564070 | ASXL1 | c.3919T>G (p.Ser1307Ala) c.3736T>G (p.Ser1246Ala) n.6272T>G c.1870-1799T>G (n.1870-1799T>G) c.3904T>G (p.Ser1302Ala) c.3916T>G (p.Ser1306Ala) c.3889T>G (p.Ser1297Ala) c.3835T>G (p.Ser1279Ala) c.3235T>G (p.Ser1079Ala) c.4183T>G (p.Ser1395Ala) c.4180T>G (p.Ser1394Ala) c.4099T>G (p.Ser1367Ala) c.4030T>G (p.Ser1344Ala) c.3898T>G (p.Ser1300Ala) c.3766T>G (p.Ser1256Ala) | |
20 | g.32436632C>A | CA408564071 | ASXL1 | c.3920C>A (p.Ser1307Tyr) c.3737C>A (p.Ser1246Tyr) n.6273C>A c.1870-1798C>A (n.1870-1798C>A) c.3905C>A (p.Ser1302Tyr) c.3917C>A (p.Ser1306Tyr) c.3890C>A (p.Ser1297Tyr) c.3836C>A (p.Ser1279Tyr) c.3236C>A (p.Ser1079Tyr) c.4184C>A (p.Ser1395Tyr) c.4181C>A (p.Ser1394Tyr) c.4100C>A (p.Ser1367Tyr) c.4031C>A (p.Ser1344Tyr) c.3899C>A (p.Ser1300Tyr) c.3767C>A (p.Ser1256Tyr) | |
20 | g.32436632C>G | CA408564072 | ASXL1 | c.3920C>G (p.Ser1307Cys) c.3737C>G (p.Ser1246Cys) n.6273C>G c.1870-1798C>G (n.1870-1798C>G) c.3905C>G (p.Ser1302Cys) c.3917C>G (p.Ser1306Cys) c.3890C>G (p.Ser1297Cys) c.3836C>G (p.Ser1279Cys) c.3236C>G (p.Ser1079Cys) c.4184C>G (p.Ser1395Cys) c.4181C>G (p.Ser1394Cys) c.4100C>G (p.Ser1367Cys) c.4031C>G (p.Ser1344Cys) c.3899C>G (p.Ser1300Cys) c.3767C>G (p.Ser1256Cys) | |
20 | g.32436632C>T | CA408564073 | ASXL1 | c.3920C>T (p.Ser1307Phe) c.3737C>T (p.Ser1246Phe) n.6273C>T c.1870-1798C>T (n.1870-1798C>T) c.3905C>T (p.Ser1302Phe) c.3917C>T (p.Ser1306Phe) c.3890C>T (p.Ser1297Phe) c.3836C>T (p.Ser1279Phe) c.3236C>T (p.Ser1079Phe) c.4184C>T (p.Ser1395Phe) c.4181C>T (p.Ser1394Phe) c.4100C>T (p.Ser1367Phe) c.4031C>T (p.Ser1344Phe) c.3899C>T (p.Ser1300Phe) c.3767C>T (p.Ser1256Phe) | |
20 | g.32436633T>A | CA510467493 | ASXL1 | c.3921T>A (p.Ser1307=) c.3738T>A (p.Ser1246=) n.6274T>A c.1870-1797T>A (n.1870-1797T>A) c.3906T>A (p.Ser1302=) c.3918T>A (p.Ser1306=) c.3891T>A (p.Ser1297=) c.3837T>A (p.Ser1279=) c.3237T>A (p.Ser1079=) c.4185T>A (p.Ser1395=) c.4182T>A (p.Ser1394=) c.4101T>A (p.Ser1367=) c.4032T>A (p.Ser1344=) c.3900T>A (p.Ser1300=) c.3768T>A (p.Ser1256=) | |
20 | g.32436633T>C | CA510467494 | ASXL1 | c.3921T>C (p.Ser1307=) c.3738T>C (p.Ser1246=) n.6274T>C c.1870-1797T>C (n.1870-1797T>C) c.3906T>C (p.Ser1302=) c.3918T>C (p.Ser1306=) c.3891T>C (p.Ser1297=) c.3837T>C (p.Ser1279=) c.3237T>C (p.Ser1079=) c.4185T>C (p.Ser1395=) c.4182T>C (p.Ser1394=) c.4101T>C (p.Ser1367=) c.4032T>C (p.Ser1344=) c.3900T>C (p.Ser1300=) c.3768T>C (p.Ser1256=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436633T>G | CA510467495 | ASXL1 | c.3921T>G (p.Ser1307=) c.3738T>G (p.Ser1246=) n.6274T>G c.1870-1797T>G (n.1870-1797T>G) c.3906T>G (p.Ser1302=) c.3918T>G (p.Ser1306=) c.3891T>G (p.Ser1297=) c.3837T>G (p.Ser1279=) c.3237T>G (p.Ser1079=) c.4185T>G (p.Ser1395=) c.4182T>G (p.Ser1394=) c.4101T>G (p.Ser1367=) c.4032T>G (p.Ser1344=) c.3900T>G (p.Ser1300=) c.3768T>G (p.Ser1256=) | |
20 | g.32436633T= | CA2360293797 | ASXL1 | c.3921T= (p.Ser1307=) c.3738T= (p.Ser1246=) n.6274T= c.1870-1797T= (n.1870-1797T=) c.3906T= (p.Ser1302=) c.3918T= (p.Ser1306=) c.3891T= (p.Ser1297=) c.3837T= (p.Ser1279=) c.3237T= (p.Ser1079=) c.4185T= (p.Ser1395=) c.4182T= (p.Ser1394=) c.4101T= (p.Ser1367=) c.4032T= (p.Ser1344=) c.3900T= (p.Ser1300=) c.3768T= (p.Ser1256=) | |
20 | g.32436636_32436643del | CA2695202520 | ASXL1 | c.3924_3931del (p.Asn1309CysfsTer17) c.3741_3748del (p.Asn1248CysfsTer17) n.6277_6284del c.1870-1794_1870-1787del (n.1870-1794_1870-1787del) c.3909_3916del (p.Asn1304CysfsTer17) c.3921_3928del (p.Asn1308CysfsTer17) c.3894_3901del (p.Asn1299CysfsTer17) c.3840_3847del (p.Asn1281CysfsTer17) c.3240_3247del (p.Asn1081CysfsTer17) c.4188_4195del (p.Asn1397CysfsTer17) c.4185_4192del (p.Asn1396CysfsTer17) c.4104_4111del (p.Asn1369CysfsTer17) c.4035_4042del (p.Asn1346CysfsTer17) c.3903_3910del (p.Asn1302CysfsTer17) c.3771_3778del (p.Asn1258CysfsTer17) | |
20 | g.32436634G>A | CA408564074 | ASXL1 | c.3922G>A (p.Gly1308Arg) c.3739G>A (p.Gly1247Arg) n.6275G>A c.1870-1796G>A (n.1870-1796G>A) c.3907G>A (p.Gly1303Arg) c.3919G>A (p.Gly1307Arg) c.3892G>A (p.Gly1298Arg) c.3838G>A (p.Gly1280Arg) c.3238G>A (p.Gly1080Arg) c.4186G>A (p.Gly1396Arg) c.4183G>A (p.Gly1395Arg) c.4102G>A (p.Gly1368Arg) c.4033G>A (p.Gly1345Arg) c.3901G>A (p.Gly1301Arg) c.3769G>A (p.Gly1257Arg) | gnomAD v4 |
20 | g.32436634G>C | CA408564076 | ASXL1 | c.3922G>C (p.Gly1308Arg) c.3739G>C (p.Gly1247Arg) n.6275G>C c.1870-1796G>C (n.1870-1796G>C) c.3907G>C (p.Gly1303Arg) c.3919G>C (p.Gly1307Arg) c.3892G>C (p.Gly1298Arg) c.3838G>C (p.Gly1280Arg) c.3238G>C (p.Gly1080Arg) c.4186G>C (p.Gly1396Arg) c.4183G>C (p.Gly1395Arg) c.4102G>C (p.Gly1368Arg) c.4033G>C (p.Gly1345Arg) c.3901G>C (p.Gly1301Arg) c.3769G>C (p.Gly1257Arg) | |
20 | g.32436634G>T | CA408564075 | ASXL1 | c.3922G>T (p.Gly1308Trp) c.3739G>T (p.Gly1247Trp) n.6275G>T c.1870-1796G>T (n.1870-1796G>T) c.3907G>T (p.Gly1303Trp) c.3919G>T (p.Gly1307Trp) c.3892G>T (p.Gly1298Trp) c.3838G>T (p.Gly1280Trp) c.3238G>T (p.Gly1080Trp) c.4186G>T (p.Gly1396Trp) c.4183G>T (p.Gly1395Trp) c.4102G>T (p.Gly1368Trp) c.4033G>T (p.Gly1345Trp) c.3901G>T (p.Gly1301Trp) c.3769G>T (p.Gly1257Trp) | |
20 | g.32436635G>A | CA408564077 | ASXL1 | c.3923G>A (p.Gly1308Glu) c.3740G>A (p.Gly1247Glu) n.6276G>A c.1870-1795G>A (n.1870-1795G>A) c.3908G>A (p.Gly1303Glu) c.3920G>A (p.Gly1307Glu) c.3893G>A (p.Gly1298Glu) c.3839G>A (p.Gly1280Glu) c.3239G>A (p.Gly1080Glu) c.4187G>A (p.Gly1396Glu) c.4184G>A (p.Gly1395Glu) c.4103G>A (p.Gly1368Glu) c.4034G>A (p.Gly1345Glu) c.3902G>A (p.Gly1301Glu) c.3770G>A (p.Gly1257Glu) | dbSNP |
20 | g.32436635G>C | CA408564079 | ASXL1 | c.3923G>C (p.Gly1308Ala) c.3740G>C (p.Gly1247Ala) n.6276G>C c.1870-1795G>C (n.1870-1795G>C) c.3908G>C (p.Gly1303Ala) c.3920G>C (p.Gly1307Ala) c.3893G>C (p.Gly1298Ala) c.3839G>C (p.Gly1280Ala) c.3239G>C (p.Gly1080Ala) c.4187G>C (p.Gly1396Ala) c.4184G>C (p.Gly1395Ala) c.4103G>C (p.Gly1368Ala) c.4034G>C (p.Gly1345Ala) c.3902G>C (p.Gly1301Ala) c.3770G>C (p.Gly1257Ala) | |
20 | g.32436635G= | CA2360293798 | ASXL1 | c.3923G= (p.Gly1308=) c.3740G= (p.Gly1247=) n.6276G= c.1870-1795G= (n.1870-1795G=) c.3908G= (p.Gly1303=) c.3920G= (p.Gly1307=) c.3893G= (p.Gly1298=) c.3839G= (p.Gly1280=) c.3239G= (p.Gly1080=) c.4187G= (p.Gly1396=) c.4184G= (p.Gly1395=) c.4103G= (p.Gly1368=) c.4034G= (p.Gly1345=) c.3902G= (p.Gly1301=) c.3770G= (p.Gly1257=) | |
20 | g.32436635G>T | CA408564078 | ASXL1 | c.3923G>T (p.Gly1308Val) c.3740G>T (p.Gly1247Val) n.6276G>T c.1870-1795G>T (n.1870-1795G>T) c.3908G>T (p.Gly1303Val) c.3920G>T (p.Gly1307Val) c.3893G>T (p.Gly1298Val) c.3839G>T (p.Gly1280Val) c.3239G>T (p.Gly1080Val) c.4187G>T (p.Gly1396Val) c.4184G>T (p.Gly1395Val) c.4103G>T (p.Gly1368Val) c.4034G>T (p.Gly1345Val) c.3902G>T (p.Gly1301Val) c.3770G>T (p.Gly1257Val) | dbSNP |
20 | g.32436636G>A | CA510467496 | ASXL1 | c.3924G>A (p.Gly1308=) c.3741G>A (p.Gly1247=) n.6277G>A c.1870-1794G>A (n.1870-1794G>A) c.3909G>A (p.Gly1303=) c.3921G>A (p.Gly1307=) c.3894G>A (p.Gly1298=) c.3840G>A (p.Gly1280=) c.3240G>A (p.Gly1080=) c.4188G>A (p.Gly1396=) c.4185G>A (p.Gly1395=) c.4104G>A (p.Gly1368=) c.4035G>A (p.Gly1345=) c.3903G>A (p.Gly1301=) c.3771G>A (p.Gly1257=) | |
20 | g.32436636G>C | CA510467497 | ASXL1 | c.3924G>C (p.Gly1308=) c.3741G>C (p.Gly1247=) n.6277G>C c.1870-1794G>C (n.1870-1794G>C) c.3909G>C (p.Gly1303=) c.3921G>C (p.Gly1307=) c.3894G>C (p.Gly1298=) c.3840G>C (p.Gly1280=) c.3240G>C (p.Gly1080=) c.4188G>C (p.Gly1396=) c.4185G>C (p.Gly1395=) c.4104G>C (p.Gly1368=) c.4035G>C (p.Gly1345=) c.3903G>C (p.Gly1301=) c.3771G>C (p.Gly1257=) | |
20 | g.32436636G>T | CA510467498 | ASXL1 | c.3924G>T (p.Gly1308=) c.3741G>T (p.Gly1247=) n.6277G>T c.1870-1794G>T (n.1870-1794G>T) c.3909G>T (p.Gly1303=) c.3921G>T (p.Gly1307=) c.3894G>T (p.Gly1298=) c.3840G>T (p.Gly1280=) c.3240G>T (p.Gly1080=) c.4188G>T (p.Gly1396=) c.4185G>T (p.Gly1395=) c.4104G>T (p.Gly1368=) c.4035G>T (p.Gly1345=) c.3903G>T (p.Gly1301=) c.3771G>T (p.Gly1257=) | gnomAD v4 |
20 | g.32436637A>C | CA408564080 | ASXL1 | c.3925A>C (p.Asn1309His) c.3742A>C (p.Asn1248His) n.6278A>C c.1870-1793A>C (n.1870-1793A>C) c.3910A>C (p.Asn1304His) c.3922A>C (p.Asn1308His) c.3895A>C (p.Asn1299His) c.3841A>C (p.Asn1281His) c.3241A>C (p.Asn1081His) c.4189A>C (p.Asn1397His) c.4186A>C (p.Asn1396His) c.4105A>C (p.Asn1369His) c.4036A>C (p.Asn1346His) c.3904A>C (p.Asn1302His) c.3772A>C (p.Asn1258His) | |
20 | g.32436637A>G | CA408564082 | ASXL1 | c.3925A>G (p.Asn1309Asp) c.3742A>G (p.Asn1248Asp) n.6278A>G c.1870-1793A>G (n.1870-1793A>G) c.3910A>G (p.Asn1304Asp) c.3922A>G (p.Asn1308Asp) c.3895A>G (p.Asn1299Asp) c.3841A>G (p.Asn1281Asp) c.3241A>G (p.Asn1081Asp) c.4189A>G (p.Asn1397Asp) c.4186A>G (p.Asn1396Asp) c.4105A>G (p.Asn1369Asp) c.4036A>G (p.Asn1346Asp) c.3904A>G (p.Asn1302Asp) c.3772A>G (p.Asn1258Asp) | |
20 | g.32436637A>T | CA408564081 | ASXL1 | c.3925A>T (p.Asn1309Tyr) c.3742A>T (p.Asn1248Tyr) n.6278A>T c.1870-1793A>T (n.1870-1793A>T) c.3910A>T (p.Asn1304Tyr) c.3922A>T (p.Asn1308Tyr) c.3895A>T (p.Asn1299Tyr) c.3841A>T (p.Asn1281Tyr) c.3241A>T (p.Asn1081Tyr) c.4189A>T (p.Asn1397Tyr) c.4186A>T (p.Asn1396Tyr) c.4105A>T (p.Asn1369Tyr) c.4036A>T (p.Asn1346Tyr) c.3904A>T (p.Asn1302Tyr) c.3772A>T (p.Asn1258Tyr) | |
20 | g.32436638A>C | CA408564083 | ASXL1 | c.3926A>C (p.Asn1309Thr) c.3743A>C (p.Asn1248Thr) n.6279A>C c.1870-1792A>C (n.1870-1792A>C) c.3911A>C (p.Asn1304Thr) c.3923A>C (p.Asn1308Thr) c.3896A>C (p.Asn1299Thr) c.3842A>C (p.Asn1281Thr) c.3242A>C (p.Asn1081Thr) c.4190A>C (p.Asn1397Thr) c.4187A>C (p.Asn1396Thr) c.4106A>C (p.Asn1369Thr) c.4037A>C (p.Asn1346Thr) c.3905A>C (p.Asn1302Thr) c.3773A>C (p.Asn1258Thr) | |
20 | g.32436638A>G | CA408564084 | ASXL1 | c.3926A>G (p.Asn1309Ser) c.3743A>G (p.Asn1248Ser) n.6279A>G c.1870-1792A>G (n.1870-1792A>G) c.3911A>G (p.Asn1304Ser) c.3923A>G (p.Asn1308Ser) c.3896A>G (p.Asn1299Ser) c.3842A>G (p.Asn1281Ser) c.3242A>G (p.Asn1081Ser) c.4190A>G (p.Asn1397Ser) c.4187A>G (p.Asn1396Ser) c.4106A>G (p.Asn1369Ser) c.4037A>G (p.Asn1346Ser) c.3905A>G (p.Asn1302Ser) c.3773A>G (p.Asn1258Ser) | |
20 | g.32436638A>T | CA408564085 | ASXL1 | c.3926A>T (p.Asn1309Ile) c.3743A>T (p.Asn1248Ile) n.6279A>T c.1870-1792A>T (n.1870-1792A>T) c.3911A>T (p.Asn1304Ile) c.3923A>T (p.Asn1308Ile) c.3896A>T (p.Asn1299Ile) c.3842A>T (p.Asn1281Ile) c.3242A>T (p.Asn1081Ile) c.4190A>T (p.Asn1397Ile) c.4187A>T (p.Asn1396Ile) c.4106A>T (p.Asn1369Ile) c.4037A>T (p.Asn1346Ile) c.3905A>T (p.Asn1302Ile) c.3773A>T (p.Asn1258Ile) | |
20 | g.32436639T>A | CA408564086 | ASXL1 | c.3927T>A (p.Asn1309Lys) c.3744T>A (p.Asn1248Lys) n.6280T>A c.1870-1791T>A (n.1870-1791T>A) c.3912T>A (p.Asn1304Lys) c.3924T>A (p.Asn1308Lys) c.3897T>A (p.Asn1299Lys) c.3843T>A (p.Asn1281Lys) c.3243T>A (p.Asn1081Lys) c.4191T>A (p.Asn1397Lys) c.4188T>A (p.Asn1396Lys) c.4107T>A (p.Asn1369Lys) c.4038T>A (p.Asn1346Lys) c.3906T>A (p.Asn1302Lys) c.3774T>A (p.Asn1258Lys) | |
20 | g.32436639T>C | CA510467499 | ASXL1 | c.3927T>C (p.Asn1309=) c.3744T>C (p.Asn1248=) n.6280T>C c.1870-1791T>C (n.1870-1791T>C) c.3912T>C (p.Asn1304=) c.3924T>C (p.Asn1308=) c.3897T>C (p.Asn1299=) c.3843T>C (p.Asn1281=) c.3243T>C (p.Asn1081=) c.4191T>C (p.Asn1397=) c.4188T>C (p.Asn1396=) c.4107T>C (p.Asn1369=) c.4038T>C (p.Asn1346=) c.3906T>C (p.Asn1302=) c.3774T>C (p.Asn1258=) | |
20 | g.32436639T>G | CA408564087 | ASXL1 | c.3927T>G (p.Asn1309Lys) c.3744T>G (p.Asn1248Lys) n.6280T>G c.1870-1791T>G (n.1870-1791T>G) c.3912T>G (p.Asn1304Lys) c.3924T>G (p.Asn1308Lys) c.3897T>G (p.Asn1299Lys) c.3843T>G (p.Asn1281Lys) c.3243T>G (p.Asn1081Lys) c.4191T>G (p.Asn1397Lys) c.4188T>G (p.Asn1396Lys) c.4107T>G (p.Asn1369Lys) c.4038T>G (p.Asn1346Lys) c.3906T>G (p.Asn1302Lys) c.3774T>G (p.Asn1258Lys) | |
20 | g.32436641_32436642del | CA2695202521 | ASXL1 | c.3929_3930del (p.Val1310GlyfsTer18) c.3746_3747del (p.Val1249GlyfsTer18) n.6282_6283del c.1870-1789_1870-1788del (n.1870-1789_1870-1788del) c.3914_3915del (p.Val1305GlyfsTer18) c.3926_3927del (p.Val1309GlyfsTer18) c.3899_3900del (p.Val1300GlyfsTer18) c.3845_3846del (p.Val1282GlyfsTer18) c.3245_3246del (p.Val1082GlyfsTer18) c.4193_4194del (p.Val1398GlyfsTer18) c.4190_4191del (p.Val1397GlyfsTer18) c.4109_4110del (p.Val1370GlyfsTer18) c.4040_4041del (p.Val1347GlyfsTer18) c.3908_3909del (p.Val1303GlyfsTer18) c.3776_3777del (p.Val1259GlyfsTer18) | |
20 | g.32436640G>A | CA408564088 | ASXL1 | c.3928G>A (p.Val1310Met) c.3745G>A (p.Val1249Met) n.6281G>A c.1870-1790G>A (n.1870-1790G>A) c.3913G>A (p.Val1305Met) c.3925G>A (p.Val1309Met) c.3898G>A (p.Val1300Met) c.3844G>A (p.Val1282Met) c.3244G>A (p.Val1082Met) c.4192G>A (p.Val1398Met) c.4189G>A (p.Val1397Met) c.4108G>A (p.Val1370Met) c.4039G>A (p.Val1347Met) c.3907G>A (p.Val1303Met) c.3775G>A (p.Val1259Met) | dbSNP gnomAD v4 |
20 | g.32436640G>C | CA408564089 | ASXL1 | c.3928G>C (p.Val1310Leu) c.3745G>C (p.Val1249Leu) n.6281G>C c.1870-1790G>C (n.1870-1790G>C) c.3913G>C (p.Val1305Leu) c.3925G>C (p.Val1309Leu) c.3898G>C (p.Val1300Leu) c.3844G>C (p.Val1282Leu) c.3244G>C (p.Val1082Leu) c.4192G>C (p.Val1398Leu) c.4189G>C (p.Val1397Leu) c.4108G>C (p.Val1370Leu) c.4039G>C (p.Val1347Leu) c.3907G>C (p.Val1303Leu) c.3775G>C (p.Val1259Leu) | |
20 | g.32436640G>T | CA408564090 | ASXL1 | c.3928G>T (p.Val1310Leu) c.3745G>T (p.Val1249Leu) n.6281G>T c.1870-1790G>T (n.1870-1790G>T) c.3913G>T (p.Val1305Leu) c.3925G>T (p.Val1309Leu) c.3898G>T (p.Val1300Leu) c.3844G>T (p.Val1282Leu) c.3244G>T (p.Val1082Leu) c.4192G>T (p.Val1398Leu) c.4189G>T (p.Val1397Leu) c.4108G>T (p.Val1370Leu) c.4039G>T (p.Val1347Leu) c.3907G>T (p.Val1303Leu) c.3775G>T (p.Val1259Leu) | |
20 | g.32436641T>A | CA408564091 | ASXL1 | c.3929T>A (p.Val1310Glu) c.3746T>A (p.Val1249Glu) n.6282T>A c.1870-1789T>A (n.1870-1789T>A) c.3914T>A (p.Val1305Glu) c.3926T>A (p.Val1309Glu) c.3899T>A (p.Val1300Glu) c.3845T>A (p.Val1282Glu) c.3245T>A (p.Val1082Glu) c.4193T>A (p.Val1398Glu) c.4190T>A (p.Val1397Glu) c.4109T>A (p.Val1370Glu) c.4040T>A (p.Val1347Glu) c.3908T>A (p.Val1303Glu) c.3776T>A (p.Val1259Glu) | |
20 | g.32436641T>C | CA408564092 | ASXL1 | c.3929T>C (p.Val1310Ala) c.3746T>C (p.Val1249Ala) n.6282T>C c.1870-1789T>C (n.1870-1789T>C) c.3914T>C (p.Val1305Ala) c.3926T>C (p.Val1309Ala) c.3899T>C (p.Val1300Ala) c.3845T>C (p.Val1282Ala) c.3245T>C (p.Val1082Ala) c.4193T>C (p.Val1398Ala) c.4190T>C (p.Val1397Ala) c.4109T>C (p.Val1370Ala) c.4040T>C (p.Val1347Ala) c.3908T>C (p.Val1303Ala) c.3776T>C (p.Val1259Ala) | |
20 | g.32436641T>G | CA408564093 | ASXL1 | c.3929T>G (p.Val1310Gly) c.3746T>G (p.Val1249Gly) n.6282T>G c.1870-1789T>G (n.1870-1789T>G) c.3914T>G (p.Val1305Gly) c.3926T>G (p.Val1309Gly) c.3899T>G (p.Val1300Gly) c.3845T>G (p.Val1282Gly) c.3245T>G (p.Val1082Gly) c.4193T>G (p.Val1398Gly) c.4190T>G (p.Val1397Gly) c.4109T>G (p.Val1370Gly) c.4040T>G (p.Val1347Gly) c.3908T>G (p.Val1303Gly) c.3776T>G (p.Val1259Gly) | gnomAD v4 |
20 | g.32436642G>A | CA510467500 | ASXL1 | c.3930G>A (p.Val1310=) c.3747G>A (p.Val1249=) n.6283G>A c.1870-1788G>A (n.1870-1788G>A) c.3915G>A (p.Val1305=) c.3927G>A (p.Val1309=) c.3900G>A (p.Val1300=) c.3846G>A (p.Val1282=) c.3246G>A (p.Val1082=) c.4194G>A (p.Val1398=) c.4191G>A (p.Val1397=) c.4110G>A (p.Val1370=) c.4041G>A (p.Val1347=) c.3909G>A (p.Val1303=) c.3777G>A (p.Val1259=) | |
20 | g.32436642G>C | CA510467501 | ASXL1 | c.3930G>C (p.Val1310=) c.3747G>C (p.Val1249=) n.6283G>C c.1870-1788G>C (n.1870-1788G>C) c.3915G>C (p.Val1305=) c.3927G>C (p.Val1309=) c.3900G>C (p.Val1300=) c.3846G>C (p.Val1282=) c.3246G>C (p.Val1082=) c.4194G>C (p.Val1398=) c.4191G>C (p.Val1397=) c.4110G>C (p.Val1370=) c.4041G>C (p.Val1347=) c.3909G>C (p.Val1303=) c.3777G>C (p.Val1259=) | |
20 | g.32436642G>T | CA510467502 | ASXL1 | c.3930G>T (p.Val1310=) c.3747G>T (p.Val1249=) n.6283G>T c.1870-1788G>T (n.1870-1788G>T) c.3915G>T (p.Val1305=) c.3927G>T (p.Val1309=) c.3900G>T (p.Val1300=) c.3846G>T (p.Val1282=) c.3246G>T (p.Val1082=) c.4194G>T (p.Val1398=) c.4191G>T (p.Val1397=) c.4110G>T (p.Val1370=) c.4041G>T (p.Val1347=) c.3909G>T (p.Val1303=) c.3777G>T (p.Val1259=) | dbSNP |
20 | g.32436643G>A | CA408564096 | ASXL1 | c.3931G>A (p.Ala1311Thr) c.3748G>A (p.Ala1250Thr) n.6284G>A c.1870-1787G>A (n.1870-1787G>A) c.3916G>A (p.Ala1306Thr) c.3928G>A (p.Ala1310Thr) c.3901G>A (p.Ala1301Thr) c.3847G>A (p.Ala1283Thr) c.3247G>A (p.Ala1083Thr) c.4195G>A (p.Ala1399Thr) c.4192G>A (p.Ala1398Thr) c.4111G>A (p.Ala1371Thr) c.4042G>A (p.Ala1348Thr) c.3910G>A (p.Ala1304Thr) c.3778G>A (p.Ala1260Thr) | COSMIC COSMIC |
20 | g.32436643G>C | CA408564094 | ASXL1 | c.3931G>C (p.Ala1311Pro) c.3748G>C (p.Ala1250Pro) n.6284G>C c.1870-1787G>C (n.1870-1787G>C) c.3916G>C (p.Ala1306Pro) c.3928G>C (p.Ala1310Pro) c.3901G>C (p.Ala1301Pro) c.3847G>C (p.Ala1283Pro) c.3247G>C (p.Ala1083Pro) c.4195G>C (p.Ala1399Pro) c.4192G>C (p.Ala1398Pro) c.4111G>C (p.Ala1371Pro) c.4042G>C (p.Ala1348Pro) c.3910G>C (p.Ala1304Pro) c.3778G>C (p.Ala1260Pro) | dbSNP |
20 | g.32436643G>T | CA408564095 | ASXL1 | c.3931G>T (p.Ala1311Ser) c.3748G>T (p.Ala1250Ser) n.6284G>T c.1870-1787G>T (n.1870-1787G>T) c.3916G>T (p.Ala1306Ser) c.3928G>T (p.Ala1310Ser) c.3901G>T (p.Ala1301Ser) c.3847G>T (p.Ala1283Ser) c.3247G>T (p.Ala1083Ser) c.4195G>T (p.Ala1399Ser) c.4192G>T (p.Ala1398Ser) c.4111G>T (p.Ala1371Ser) c.4042G>T (p.Ala1348Ser) c.3910G>T (p.Ala1304Ser) c.3778G>T (p.Ala1260Ser) | |
20 | g.32436644C>A | CA408564097 | ASXL1 | c.3932C>A (p.Ala1311Asp) c.3749C>A (p.Ala1250Asp) n.6285C>A c.1870-1786C>A (n.1870-1786C>A) c.3917C>A (p.Ala1306Asp) c.3929C>A (p.Ala1310Asp) c.3902C>A (p.Ala1301Asp) c.3848C>A (p.Ala1283Asp) c.3248C>A (p.Ala1083Asp) c.4196C>A (p.Ala1399Asp) c.4193C>A (p.Ala1398Asp) c.4112C>A (p.Ala1371Asp) c.4043C>A (p.Ala1348Asp) c.3911C>A (p.Ala1304Asp) c.3779C>A (p.Ala1260Asp) | |
20 | g.32436644C>G | CA408564098 | ASXL1 | c.3932C>G (p.Ala1311Gly) c.3749C>G (p.Ala1250Gly) n.6285C>G c.1870-1786C>G (n.1870-1786C>G) c.3917C>G (p.Ala1306Gly) c.3929C>G (p.Ala1310Gly) c.3902C>G (p.Ala1301Gly) c.3848C>G (p.Ala1283Gly) c.3248C>G (p.Ala1083Gly) c.4196C>G (p.Ala1399Gly) c.4193C>G (p.Ala1398Gly) c.4112C>G (p.Ala1371Gly) c.4043C>G (p.Ala1348Gly) c.3911C>G (p.Ala1304Gly) c.3779C>G (p.Ala1260Gly) | dbSNP |
20 | g.32436644C>T | CA408564099 | ASXL1 | c.3932C>T (p.Ala1311Val) c.3749C>T (p.Ala1250Val) n.6285C>T c.1870-1786C>T (n.1870-1786C>T) c.3917C>T (p.Ala1306Val) c.3929C>T (p.Ala1310Val) c.3902C>T (p.Ala1301Val) c.3848C>T (p.Ala1283Val) c.3248C>T (p.Ala1083Val) c.4196C>T (p.Ala1399Val) c.4193C>T (p.Ala1398Val) c.4112C>T (p.Ala1371Val) c.4043C>T (p.Ala1348Val) c.3911C>T (p.Ala1304Val) c.3779C>T (p.Ala1260Val) | ClinVar |
20 | g.32436645T>A | CA510467504 | ASXL1 | c.3933T>A (p.Ala1311=) c.3750T>A (p.Ala1250=) n.6286T>A c.1870-1785T>A (n.1870-1785T>A) c.3918T>A (p.Ala1306=) c.3930T>A (p.Ala1310=) c.3903T>A (p.Ala1301=) c.3849T>A (p.Ala1283=) c.3249T>A (p.Ala1083=) c.4197T>A (p.Ala1399=) c.4194T>A (p.Ala1398=) c.4113T>A (p.Ala1371=) c.4044T>A (p.Ala1348=) c.3912T>A (p.Ala1304=) c.3780T>A (p.Ala1260=) | |
20 | g.32436645T>C | CA9808927 | ASXL1 | c.3933T>C (p.Ala1311=) c.3750T>C (p.Ala1250=) n.6286T>C c.1870-1785T>C (n.1870-1785T>C) c.3918T>C (p.Ala1306=) c.3930T>C (p.Ala1310=) c.3903T>C (p.Ala1301=) c.3849T>C (p.Ala1283=) c.3249T>C (p.Ala1083=) c.4197T>C (p.Ala1399=) c.4194T>C (p.Ala1398=) c.4113T>C (p.Ala1371=) c.4044T>C (p.Ala1348=) c.3912T>C (p.Ala1304=) c.3780T>C (p.Ala1260=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436645T>G | CA510467503 | ASXL1 | c.3933T>G (p.Ala1311=) c.3750T>G (p.Ala1250=) n.6286T>G c.1870-1785T>G (n.1870-1785T>G) c.3918T>G (p.Ala1306=) c.3930T>G (p.Ala1310=) c.3903T>G (p.Ala1301=) c.3849T>G (p.Ala1283=) c.3249T>G (p.Ala1083=) c.4197T>G (p.Ala1399=) c.4194T>G (p.Ala1398=) c.4113T>G (p.Ala1371=) c.4044T>G (p.Ala1348=) c.3912T>G (p.Ala1304=) c.3780T>G (p.Ala1260=) | |
20 | g.32436645T= | CA2360293799 | ASXL1 | c.3933T= (p.Ala1311=) c.3750T= (p.Ala1250=) n.6286T= c.1870-1785T= (n.1870-1785T=) c.3918T= (p.Ala1306=) c.3930T= (p.Ala1310=) c.3903T= (p.Ala1301=) c.3849T= (p.Ala1283=) c.3249T= (p.Ala1083=) c.4197T= (p.Ala1399=) c.4194T= (p.Ala1398=) c.4113T= (p.Ala1371=) c.4044T= (p.Ala1348=) c.3912T= (p.Ala1304=) c.3780T= (p.Ala1260=) | |
20 | g.32436646G>A | CA408564100 | ASXL1 | c.3934G>A (p.Ala1312Thr) c.3751G>A (p.Ala1251Thr) n.6287G>A c.1870-1784G>A (n.1870-1784G>A) c.3919G>A (p.Ala1307Thr) c.3931G>A (p.Ala1311Thr) c.3904G>A (p.Ala1302Thr) c.3850G>A (p.Ala1284Thr) c.3250G>A (p.Ala1084Thr) c.4198G>A (p.Ala1400Thr) c.4195G>A (p.Ala1399Thr) c.4114G>A (p.Ala1372Thr) c.4045G>A (p.Ala1349Thr) c.3913G>A (p.Ala1305Thr) c.3781G>A (p.Ala1261Thr) | dbSNP |
20 | g.32436646G>C | CA408564101 | ASXL1 | c.3934G>C (p.Ala1312Pro) c.3751G>C (p.Ala1251Pro) n.6287G>C c.1870-1784G>C (n.1870-1784G>C) c.3919G>C (p.Ala1307Pro) c.3931G>C (p.Ala1311Pro) c.3904G>C (p.Ala1302Pro) c.3850G>C (p.Ala1284Pro) c.3250G>C (p.Ala1084Pro) c.4198G>C (p.Ala1400Pro) c.4195G>C (p.Ala1399Pro) c.4114G>C (p.Ala1372Pro) c.4045G>C (p.Ala1349Pro) c.3913G>C (p.Ala1305Pro) c.3781G>C (p.Ala1261Pro) | |
20 | g.32436646G>T | CA408564102 | ASXL1 | c.3934G>T (p.Ala1312Ser) c.3751G>T (p.Ala1251Ser) n.6287G>T c.1870-1784G>T (n.1870-1784G>T) c.3919G>T (p.Ala1307Ser) c.3931G>T (p.Ala1311Ser) c.3904G>T (p.Ala1302Ser) c.3850G>T (p.Ala1284Ser) c.3250G>T (p.Ala1084Ser) c.4198G>T (p.Ala1400Ser) c.4195G>T (p.Ala1399Ser) c.4114G>T (p.Ala1372Ser) c.4045G>T (p.Ala1349Ser) c.3913G>T (p.Ala1305Ser) c.3781G>T (p.Ala1261Ser) | COSMIC |
20 | g.32436646dup | CA510467505 | ASXL1 | c.3934dup (p.Ala1312GlyfsTer17) c.3751dup (p.Ala1251GlyfsTer17) n.6287dup c.1870-1784dup (n.1870-1784dup) c.3919dup (p.Ala1307GlyfsTer17) c.3931dup (p.Ala1311GlyfsTer17) c.3904dup (p.Ala1302GlyfsTer17) c.3850dup (p.Ala1284GlyfsTer17) c.3250dup (p.Ala1084GlyfsTer17) c.4198dup (p.Ala1400GlyfsTer17) c.4195dup (p.Ala1399GlyfsTer17) c.4114dup (p.Ala1372GlyfsTer17) c.4045dup (p.Ala1349GlyfsTer17) c.3913dup (p.Ala1305GlyfsTer17) c.3781dup (p.Ala1261GlyfsTer17) | COSMIC |
20 | g.32436647C>A | CA408564103 | ASXL1 | c.3935C>A (p.Ala1312Glu) c.3752C>A (p.Ala1251Glu) n.6288C>A c.1870-1783C>A (n.1870-1783C>A) c.3920C>A (p.Ala1307Glu) c.3932C>A (p.Ala1311Glu) c.3905C>A (p.Ala1302Glu) c.3851C>A (p.Ala1284Glu) c.3251C>A (p.Ala1084Glu) c.4199C>A (p.Ala1400Glu) c.4196C>A (p.Ala1399Glu) c.4115C>A (p.Ala1372Glu) c.4046C>A (p.Ala1349Glu) c.3914C>A (p.Ala1305Glu) c.3782C>A (p.Ala1261Glu) | COSMIC |
20 | g.32436647C= | CA2360293800 | ASXL1 | c.3935C= (p.Ala1312=) c.3752C= (p.Ala1251=) n.6288C= c.1870-1783C= (n.1870-1783C=) c.3920C= (p.Ala1307=) c.3932C= (p.Ala1311=) c.3905C= (p.Ala1302=) c.3851C= (p.Ala1284=) c.3251C= (p.Ala1084=) c.4199C= (p.Ala1400=) c.4196C= (p.Ala1399=) c.4115C= (p.Ala1372=) c.4046C= (p.Ala1349=) c.3914C= (p.Ala1305=) c.3782C= (p.Ala1261=) | |
20 | g.32436647C>G | CA408564104 | ASXL1 | c.3935C>G (p.Ala1312Gly) c.3752C>G (p.Ala1251Gly) n.6288C>G c.1870-1783C>G (n.1870-1783C>G) c.3920C>G (p.Ala1307Gly) c.3932C>G (p.Ala1311Gly) c.3905C>G (p.Ala1302Gly) c.3851C>G (p.Ala1284Gly) c.3251C>G (p.Ala1084Gly) c.4199C>G (p.Ala1400Gly) c.4196C>G (p.Ala1399Gly) c.4115C>G (p.Ala1372Gly) c.4046C>G (p.Ala1349Gly) c.3914C>G (p.Ala1305Gly) c.3782C>G (p.Ala1261Gly) | dbSNP |
20 | g.32436647C>T | CA157017 | ASXL1 | c.3935C>T (p.Ala1312Val) c.3752C>T (p.Ala1251Val) n.6288C>T c.1870-1783C>T (n.1870-1783C>T) c.3920C>T (p.Ala1307Val) c.3932C>T (p.Ala1311Val) c.3905C>T (p.Ala1302Val) c.3851C>T (p.Ala1284Val) c.3251C>T (p.Ala1084Val) c.4199C>T (p.Ala1400Val) c.4196C>T (p.Ala1399Val) c.4115C>T (p.Ala1372Val) c.4046C>T (p.Ala1349Val) c.3914C>T (p.Ala1305Val) c.3782C>T (p.Ala1261Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.32436648A>C | CA510467506 | ASXL1 | c.3936A>C (p.Ala1312=) c.3753A>C (p.Ala1251=) n.6289A>C c.1870-1782A>C (n.1870-1782A>C) c.3921A>C (p.Ala1307=) c.3933A>C (p.Ala1311=) c.3906A>C (p.Ala1302=) c.3852A>C (p.Ala1284=) c.3252A>C (p.Ala1084=) c.4200A>C (p.Ala1400=) c.4197A>C (p.Ala1399=) c.4116A>C (p.Ala1372=) c.4047A>C (p.Ala1349=) c.3915A>C (p.Ala1305=) c.3783A>C (p.Ala1261=) | |
20 | g.32436648A>G | CA510467507 | ASXL1 | c.3936A>G (p.Ala1312=) c.3753A>G (p.Ala1251=) n.6289A>G c.1870-1782A>G (n.1870-1782A>G) c.3921A>G (p.Ala1307=) c.3933A>G (p.Ala1311=) c.3906A>G (p.Ala1302=) c.3852A>G (p.Ala1284=) c.3252A>G (p.Ala1084=) c.4200A>G (p.Ala1400=) c.4197A>G (p.Ala1399=) c.4116A>G (p.Ala1372=) c.4047A>G (p.Ala1349=) c.3915A>G (p.Ala1305=) c.3783A>G (p.Ala1261=) | |
20 | g.32436648A>T | CA510467508 | ASXL1 | c.3936A>T (p.Ala1312=) c.3753A>T (p.Ala1251=) n.6289A>T c.1870-1782A>T (n.1870-1782A>T) c.3921A>T (p.Ala1307=) c.3933A>T (p.Ala1311=) c.3906A>T (p.Ala1302=) c.3852A>T (p.Ala1284=) c.3252A>T (p.Ala1084=) c.4200A>T (p.Ala1400=) c.4197A>T (p.Ala1399=) c.4116A>T (p.Ala1372=) c.4047A>T (p.Ala1349=) c.3915A>T (p.Ala1305=) c.3783A>T (p.Ala1261=) | |
20 | g.32436649A>C | CA408564106 | ASXL1 | c.3937A>C (p.Thr1313Pro) c.3754A>C (p.Thr1252Pro) n.6290A>C c.1870-1781A>C (n.1870-1781A>C) c.3922A>C (p.Thr1308Pro) c.3934A>C (p.Thr1312Pro) c.3907A>C (p.Thr1303Pro) c.3853A>C (p.Thr1285Pro) c.3253A>C (p.Thr1085Pro) c.4201A>C (p.Thr1401Pro) c.4198A>C (p.Thr1400Pro) c.4117A>C (p.Thr1373Pro) c.4048A>C (p.Thr1350Pro) c.3916A>C (p.Thr1306Pro) c.3784A>C (p.Thr1262Pro) | |
20 | g.32436649A>G | CA408564107 | ASXL1 | c.3937A>G (p.Thr1313Ala) c.3754A>G (p.Thr1252Ala) n.6290A>G c.1870-1781A>G (n.1870-1781A>G) c.3922A>G (p.Thr1308Ala) c.3934A>G (p.Thr1312Ala) c.3907A>G (p.Thr1303Ala) c.3853A>G (p.Thr1285Ala) c.3253A>G (p.Thr1085Ala) c.4201A>G (p.Thr1401Ala) c.4198A>G (p.Thr1400Ala) c.4117A>G (p.Thr1373Ala) c.4048A>G (p.Thr1350Ala) c.3916A>G (p.Thr1306Ala) c.3784A>G (p.Thr1262Ala) | |
20 | g.32436649A>T | CA408564105 | ASXL1 | c.3937A>T (p.Thr1313Ser) c.3754A>T (p.Thr1252Ser) n.6290A>T c.1870-1781A>T (n.1870-1781A>T) c.3922A>T (p.Thr1308Ser) c.3934A>T (p.Thr1312Ser) c.3907A>T (p.Thr1303Ser) c.3853A>T (p.Thr1285Ser) c.3253A>T (p.Thr1085Ser) c.4201A>T (p.Thr1401Ser) c.4198A>T (p.Thr1400Ser) c.4117A>T (p.Thr1373Ser) c.4048A>T (p.Thr1350Ser) c.3916A>T (p.Thr1306Ser) c.3784A>T (p.Thr1262Ser) | dbSNP |
20 | g.32436650C>A | CA408564108 | ASXL1 | c.3938C>A (p.Thr1313Asn) c.3755C>A (p.Thr1252Asn) n.6291C>A c.1870-1780C>A (n.1870-1780C>A) c.3923C>A (p.Thr1308Asn) c.3935C>A (p.Thr1312Asn) c.3908C>A (p.Thr1303Asn) c.3854C>A (p.Thr1285Asn) c.3254C>A (p.Thr1085Asn) c.4202C>A (p.Thr1401Asn) c.4199C>A (p.Thr1400Asn) c.4118C>A (p.Thr1373Asn) c.4049C>A (p.Thr1350Asn) c.3917C>A (p.Thr1306Asn) c.3785C>A (p.Thr1262Asn) | gnomAD v4 |
20 | g.32436650C>G | CA408564109 | ASXL1 | c.3938C>G (p.Thr1313Ser) c.3755C>G (p.Thr1252Ser) n.6291C>G c.1870-1780C>G (n.1870-1780C>G) c.3923C>G (p.Thr1308Ser) c.3935C>G (p.Thr1312Ser) c.3908C>G (p.Thr1303Ser) c.3854C>G (p.Thr1285Ser) c.3254C>G (p.Thr1085Ser) c.4202C>G (p.Thr1401Ser) c.4199C>G (p.Thr1400Ser) c.4118C>G (p.Thr1373Ser) c.4049C>G (p.Thr1350Ser) c.3917C>G (p.Thr1306Ser) c.3785C>G (p.Thr1262Ser) | dbSNP |
20 | g.32436650C>T | CA408564110 | ASXL1 | c.3938C>T (p.Thr1313Ile) c.3755C>T (p.Thr1252Ile) n.6291C>T c.1870-1780C>T (n.1870-1780C>T) c.3923C>T (p.Thr1308Ile) c.3935C>T (p.Thr1312Ile) c.3908C>T (p.Thr1303Ile) c.3854C>T (p.Thr1285Ile) c.3254C>T (p.Thr1085Ile) c.4202C>T (p.Thr1401Ile) c.4199C>T (p.Thr1400Ile) c.4118C>T (p.Thr1373Ile) c.4049C>T (p.Thr1350Ile) c.3917C>T (p.Thr1306Ile) c.3785C>T (p.Thr1262Ile) | ClinVar dbSNP gnomAD v4 |
20 | g.32436651C>A | CA510467509 | ASXL1 | c.3939C>A (p.Thr1313=) c.3756C>A (p.Thr1252=) n.6292C>A c.1870-1779C>A (n.1870-1779C>A) c.3924C>A (p.Thr1308=) c.3936C>A (p.Thr1312=) c.3909C>A (p.Thr1303=) c.3855C>A (p.Thr1285=) c.3255C>A (p.Thr1085=) c.4203C>A (p.Thr1401=) c.4200C>A (p.Thr1400=) c.4119C>A (p.Thr1373=) c.4050C>A (p.Thr1350=) c.3918C>A (p.Thr1306=) c.3786C>A (p.Thr1262=) | |
20 | g.32436651C= | CA2360293801 | ASXL1 | c.3939C= (p.Thr1313=) c.3756C= (p.Thr1252=) n.6292C= c.1870-1779C= (n.1870-1779C=) c.3924C= (p.Thr1308=) c.3936C= (p.Thr1312=) c.3909C= (p.Thr1303=) c.3855C= (p.Thr1285=) c.3255C= (p.Thr1085=) c.4203C= (p.Thr1401=) c.4200C= (p.Thr1400=) c.4119C= (p.Thr1373=) c.4050C= (p.Thr1350=) c.3918C= (p.Thr1306=) c.3786C= (p.Thr1262=) | |
20 | g.32436651C>G | CA510467510 | ASXL1 | c.3939C>G (p.Thr1313=) c.3756C>G (p.Thr1252=) n.6292C>G c.1870-1779C>G (n.1870-1779C>G) c.3924C>G (p.Thr1308=) c.3936C>G (p.Thr1312=) c.3909C>G (p.Thr1303=) c.3855C>G (p.Thr1285=) c.3255C>G (p.Thr1085=) c.4203C>G (p.Thr1401=) c.4200C>G (p.Thr1400=) c.4119C>G (p.Thr1373=) c.4050C>G (p.Thr1350=) c.3918C>G (p.Thr1306=) c.3786C>G (p.Thr1262=) | |
20 | g.32436651C>T | CA510467511 | ASXL1 | c.3939C>T (p.Thr1313=) c.3756C>T (p.Thr1252=) n.6292C>T c.1870-1779C>T (n.1870-1779C>T) c.3924C>T (p.Thr1308=) c.3936C>T (p.Thr1312=) c.3909C>T (p.Thr1303=) c.3855C>T (p.Thr1285=) c.3255C>T (p.Thr1085=) c.4203C>T (p.Thr1401=) c.4200C>T (p.Thr1400=) c.4119C>T (p.Thr1373=) c.4050C>T (p.Thr1350=) c.3918C>T (p.Thr1306=) c.3786C>T (p.Thr1262=) | ClinVar dbSNP gnomAD v4 |
20 | g.32436654_32436669del | CA2580098170 | ASXL1 | c.3942_3957del (p.Gln1315ArgfsTer?) c.3759_3774del (p.Gln1254ArgfsTer?) n.6295_6310del c.1870-1776_1870-1761del (n.1870-1776_1870-1761del) c.3927_3942del (p.Gln1310ArgfsTer?) c.3939_3954del (p.Gln1314ArgfsTer?) c.3912_3927del (p.Gln1305ArgfsTer?) c.3858_3873del (p.Gln1287ArgfsTer?) c.3258_3273del (p.Gln1087ArgfsTer?) c.4206_4221del (p.Gln1403ArgfsTer?) c.4203_4218del (p.Gln1402ArgfsTer?) c.4122_4137del (p.Gln1375ArgfsTer?) c.4053_4068del (p.Gln1352ArgfsTer?) c.3921_3936del (p.Gln1308ArgfsTer?) c.3789_3804del (p.Gln1264ArgfsTer?) | ClinVar |
20 | g.32436652C>A | CA408564111 | ASXL1 | c.3940C>A (p.Leu1314Ile) c.3757C>A (p.Leu1253Ile) n.6293C>A c.1870-1778C>A (n.1870-1778C>A) c.3925C>A (p.Leu1309Ile) c.3937C>A (p.Leu1313Ile) c.3910C>A (p.Leu1304Ile) c.3856C>A (p.Leu1286Ile) c.3256C>A (p.Leu1086Ile) c.4204C>A (p.Leu1402Ile) c.4201C>A (p.Leu1401Ile) c.4120C>A (p.Leu1374Ile) c.4051C>A (p.Leu1351Ile) c.3919C>A (p.Leu1307Ile) c.3787C>A (p.Leu1263Ile) | dbSNP |
20 | g.32436652C= | CA2360293802 | ASXL1 | c.3940C= (p.Leu1314=) c.3757C= (p.Leu1253=) n.6293C= c.1870-1778C= (n.1870-1778C=) c.3925C= (p.Leu1309=) c.3937C= (p.Leu1313=) c.3910C= (p.Leu1304=) c.3856C= (p.Leu1286=) c.3256C= (p.Leu1086=) c.4204C= (p.Leu1402=) c.4201C= (p.Leu1401=) c.4120C= (p.Leu1374=) c.4051C= (p.Leu1351=) c.3919C= (p.Leu1307=) c.3787C= (p.Leu1263=) | |
20 | g.32436652C>G | CA408564112 | ASXL1 | c.3940C>G (p.Leu1314Val) c.3757C>G (p.Leu1253Val) n.6293C>G c.1870-1778C>G (n.1870-1778C>G) c.3925C>G (p.Leu1309Val) c.3937C>G (p.Leu1313Val) c.3910C>G (p.Leu1304Val) c.3856C>G (p.Leu1286Val) c.3256C>G (p.Leu1086Val) c.4204C>G (p.Leu1402Val) c.4201C>G (p.Leu1401Val) c.4120C>G (p.Leu1374Val) c.4051C>G (p.Leu1351Val) c.3919C>G (p.Leu1307Val) c.3787C>G (p.Leu1263Val) | gnomAD v4 |
20 | g.32436652C>T | CA9808928 | ASXL1 | c.3940C>T (p.Leu1314Phe) c.3757C>T (p.Leu1253Phe) n.6293C>T c.1870-1778C>T (n.1870-1778C>T) c.3925C>T (p.Leu1309Phe) c.3937C>T (p.Leu1313Phe) c.3910C>T (p.Leu1304Phe) c.3856C>T (p.Leu1286Phe) c.3256C>T (p.Leu1086Phe) c.4204C>T (p.Leu1402Phe) c.4201C>T (p.Leu1401Phe) c.4120C>T (p.Leu1374Phe) c.4051C>T (p.Leu1351Phe) c.3919C>T (p.Leu1307Phe) c.3787C>T (p.Leu1263Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436653T>A | CA408564113 | ASXL1 | c.3941T>A (p.Leu1314His) c.3758T>A (p.Leu1253His) n.6294T>A c.1870-1777T>A (n.1870-1777T>A) c.3926T>A (p.Leu1309His) c.3938T>A (p.Leu1313His) c.3911T>A (p.Leu1304His) c.3857T>A (p.Leu1286His) c.3257T>A (p.Leu1086His) c.4205T>A (p.Leu1402His) c.4202T>A (p.Leu1401His) c.4121T>A (p.Leu1374His) c.4052T>A (p.Leu1351His) c.3920T>A (p.Leu1307His) c.3788T>A (p.Leu1263His) | |
20 | g.32436653T>C | CA408564114 | ASXL1 | c.3941T>C (p.Leu1314Pro) c.3758T>C (p.Leu1253Pro) n.6294T>C c.1870-1777T>C (n.1870-1777T>C) c.3926T>C (p.Leu1309Pro) c.3938T>C (p.Leu1313Pro) c.3911T>C (p.Leu1304Pro) c.3857T>C (p.Leu1286Pro) c.3257T>C (p.Leu1086Pro) c.4205T>C (p.Leu1402Pro) c.4202T>C (p.Leu1401Pro) c.4121T>C (p.Leu1374Pro) c.4052T>C (p.Leu1351Pro) c.3920T>C (p.Leu1307Pro) c.3788T>C (p.Leu1263Pro) | |
20 | g.32436653T>G | CA408564115 | ASXL1 | c.3941T>G (p.Leu1314Arg) c.3758T>G (p.Leu1253Arg) n.6294T>G c.1870-1777T>G (n.1870-1777T>G) c.3926T>G (p.Leu1309Arg) c.3938T>G (p.Leu1313Arg) c.3911T>G (p.Leu1304Arg) c.3857T>G (p.Leu1286Arg) c.3257T>G (p.Leu1086Arg) c.4205T>G (p.Leu1402Arg) c.4202T>G (p.Leu1401Arg) c.4121T>G (p.Leu1374Arg) c.4052T>G (p.Leu1351Arg) c.3920T>G (p.Leu1307Arg) c.3788T>G (p.Leu1263Arg) | |
20 | g.32436654dup | CA2652401275 | ASXL1 | c.3942dup (p.Gln1315SerfsTer14) c.3759dup (p.Gln1254SerfsTer14) n.6295dup c.1870-1776dup (n.1870-1776dup) c.3927dup (p.Gln1310SerfsTer14) c.3939dup (p.Gln1314SerfsTer14) c.3912dup (p.Gln1305SerfsTer14) c.3858dup (p.Gln1287SerfsTer14) c.3258dup (p.Gln1087SerfsTer14) c.4206dup (p.Gln1403SerfsTer14) c.4203dup (p.Gln1402SerfsTer14) c.4122dup (p.Gln1375SerfsTer14) c.4053dup (p.Gln1352SerfsTer14) c.3921dup (p.Gln1308SerfsTer14) c.3789dup (p.Gln1264SerfsTer14) | gnomAD v4 |
20 | g.32436654del | CA645612973 | ASXL1 | c.3942del (p.Gln1315SerfsTer?) c.3759del (p.Gln1254SerfsTer?) n.6295del c.1870-1776del (n.1870-1776del) c.3927del (p.Gln1310SerfsTer?) c.3939del (p.Gln1314SerfsTer?) c.3912del (p.Gln1305SerfsTer?) c.3858del (p.Gln1287SerfsTer?) c.3258del (p.Gln1087SerfsTer?) c.4206del (p.Gln1403SerfsTer?) c.4203del (p.Gln1402SerfsTer?) c.4122del (p.Gln1375SerfsTer?) c.4053del (p.Gln1352SerfsTer?) c.3921del (p.Gln1308SerfsTer?) c.3789del (p.Gln1264SerfsTer?) | COSMIC COSMIC |
20 | g.32436654T>A | CA510467512 | ASXL1 | c.3942T>A (p.Leu1314=) c.3759T>A (p.Leu1253=) n.6295T>A c.1870-1776T>A (n.1870-1776T>A) c.3927T>A (p.Leu1309=) c.3939T>A (p.Leu1313=) c.3912T>A (p.Leu1304=) c.3858T>A (p.Leu1286=) c.3258T>A (p.Leu1086=) c.4206T>A (p.Leu1402=) c.4203T>A (p.Leu1401=) c.4122T>A (p.Leu1374=) c.4053T>A (p.Leu1351=) c.3921T>A (p.Leu1307=) c.3789T>A (p.Leu1263=) | |
20 | g.32436654T>C | CA510467513 | ASXL1 | c.3942T>C (p.Leu1314=) c.3759T>C (p.Leu1253=) n.6295T>C c.1870-1776T>C (n.1870-1776T>C) c.3927T>C (p.Leu1309=) c.3939T>C (p.Leu1313=) c.3912T>C (p.Leu1304=) c.3858T>C (p.Leu1286=) c.3258T>C (p.Leu1086=) c.4206T>C (p.Leu1402=) c.4203T>C (p.Leu1401=) c.4122T>C (p.Leu1374=) c.4053T>C (p.Leu1351=) c.3921T>C (p.Leu1307=) c.3789T>C (p.Leu1263=) | |
20 | g.32436654T>G | CA510467514 | ASXL1 | c.3942T>G (p.Leu1314=) c.3759T>G (p.Leu1253=) n.6295T>G c.1870-1776T>G (n.1870-1776T>G) c.3927T>G (p.Leu1309=) c.3939T>G (p.Leu1313=) c.3912T>G (p.Leu1304=) c.3858T>G (p.Leu1286=) c.3258T>G (p.Leu1086=) c.4206T>G (p.Leu1402=) c.4203T>G (p.Leu1401=) c.4122T>G (p.Leu1374=) c.4053T>G (p.Leu1351=) c.3921T>G (p.Leu1307=) c.3789T>G (p.Leu1263=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436654T= | CA2360293803 | ASXL1 | c.3942T= (p.Leu1314=) c.3759T= (p.Leu1253=) n.6295T= c.1870-1776T= (n.1870-1776T=) c.3927T= (p.Leu1309=) c.3939T= (p.Leu1313=) c.3912T= (p.Leu1304=) c.3858T= (p.Leu1286=) c.3258T= (p.Leu1086=) c.4206T= (p.Leu1402=) c.4203T= (p.Leu1401=) c.4122T= (p.Leu1374=) c.4053T= (p.Leu1351=) c.3921T= (p.Leu1307=) c.3789T= (p.Leu1263=) | |
20 | g.32436655C>A | CA408564116 | ASXL1 | c.3943C>A (p.Gln1315Lys) c.3760C>A (p.Gln1254Lys) n.6296C>A c.1870-1775C>A (n.1870-1775C>A) c.3928C>A (p.Gln1310Lys) c.3940C>A (p.Gln1314Lys) c.3913C>A (p.Gln1305Lys) c.3859C>A (p.Gln1287Lys) c.3259C>A (p.Gln1087Lys) c.4207C>A (p.Gln1403Lys) c.4204C>A (p.Gln1402Lys) c.4123C>A (p.Gln1375Lys) c.4054C>A (p.Gln1352Lys) c.3922C>A (p.Gln1308Lys) c.3790C>A (p.Gln1264Lys) | |
20 | g.32436655C>G | CA408564117 | ASXL1 | c.3943C>G (p.Gln1315Glu) c.3760C>G (p.Gln1254Glu) n.6296C>G c.1870-1775C>G (n.1870-1775C>G) c.3928C>G (p.Gln1310Glu) c.3940C>G (p.Gln1314Glu) c.3913C>G (p.Gln1305Glu) c.3859C>G (p.Gln1287Glu) c.3259C>G (p.Gln1087Glu) c.4207C>G (p.Gln1403Glu) c.4204C>G (p.Gln1402Glu) c.4123C>G (p.Gln1375Glu) c.4054C>G (p.Gln1352Glu) c.3922C>G (p.Gln1308Glu) c.3790C>G (p.Gln1264Glu) | |
20 | g.32436655C>T | CA408564118 | ASXL1 | c.3943C>T (p.Gln1315Ter) c.3760C>T (p.Gln1254Ter) n.6296C>T c.1870-1775C>T (n.1870-1775C>T) c.3928C>T (p.Gln1310Ter) c.3940C>T (p.Gln1314Ter) c.3913C>T (p.Gln1305Ter) c.3859C>T (p.Gln1287Ter) c.3259C>T (p.Gln1087Ter) c.4207C>T (p.Gln1403Ter) c.4204C>T (p.Gln1402Ter) c.4123C>T (p.Gln1375Ter) c.4054C>T (p.Gln1352Ter) c.3922C>T (p.Gln1308Ter) c.3790C>T (p.Gln1264Ter) | gnomAD v4 |
20 | g.32436656A>C | CA408564120 | ASXL1 | c.3944A>C (p.Gln1315Pro) c.3761A>C (p.Gln1254Pro) n.6297A>C c.1870-1774A>C (n.1870-1774A>C) c.3929A>C (p.Gln1310Pro) c.3941A>C (p.Gln1314Pro) c.3914A>C (p.Gln1305Pro) c.3860A>C (p.Gln1287Pro) c.3260A>C (p.Gln1087Pro) c.4208A>C (p.Gln1403Pro) c.4205A>C (p.Gln1402Pro) c.4124A>C (p.Gln1375Pro) c.4055A>C (p.Gln1352Pro) c.3923A>C (p.Gln1308Pro) c.3791A>C (p.Gln1264Pro) | gnomAD v4 |
20 | g.32436656A>G | CA408564121 | ASXL1 | c.3944A>G (p.Gln1315Arg) c.3761A>G (p.Gln1254Arg) n.6297A>G c.1870-1774A>G (n.1870-1774A>G) c.3929A>G (p.Gln1310Arg) c.3941A>G (p.Gln1314Arg) c.3914A>G (p.Gln1305Arg) c.3860A>G (p.Gln1287Arg) c.3260A>G (p.Gln1087Arg) c.4208A>G (p.Gln1403Arg) c.4205A>G (p.Gln1402Arg) c.4124A>G (p.Gln1375Arg) c.4055A>G (p.Gln1352Arg) c.3923A>G (p.Gln1308Arg) c.3791A>G (p.Gln1264Arg) | |
20 | g.32436656A>T | CA408564119 | ASXL1 | c.3944A>T (p.Gln1315Leu) c.3761A>T (p.Gln1254Leu) n.6297A>T c.1870-1774A>T (n.1870-1774A>T) c.3929A>T (p.Gln1310Leu) c.3941A>T (p.Gln1314Leu) c.3914A>T (p.Gln1305Leu) c.3860A>T (p.Gln1287Leu) c.3260A>T (p.Gln1087Leu) c.4208A>T (p.Gln1403Leu) c.4205A>T (p.Gln1402Leu) c.4124A>T (p.Gln1375Leu) c.4055A>T (p.Gln1352Leu) c.3923A>T (p.Gln1308Leu) c.3791A>T (p.Gln1264Leu) | |
20 | g.32436657G>A | CA510467515 | ASXL1 | c.3945G>A (p.Gln1315=) c.3762G>A (p.Gln1254=) n.6298G>A c.1870-1773G>A (n.1870-1773G>A) c.3930G>A (p.Gln1310=) c.3942G>A (p.Gln1314=) c.3915G>A (p.Gln1305=) c.3861G>A (p.Gln1287=) c.3261G>A (p.Gln1087=) c.4209G>A (p.Gln1403=) c.4206G>A (p.Gln1402=) c.4125G>A (p.Gln1375=) c.4056G>A (p.Gln1352=) c.3924G>A (p.Gln1308=) c.3792G>A (p.Gln1264=) | dbSNP |
20 | g.32436657G>C | CA408564122 | ASXL1 | c.3945G>C (p.Gln1315His) c.3762G>C (p.Gln1254His) n.6298G>C c.1870-1773G>C (n.1870-1773G>C) c.3930G>C (p.Gln1310His) c.3942G>C (p.Gln1314His) c.3915G>C (p.Gln1305His) c.3861G>C (p.Gln1287His) c.3261G>C (p.Gln1087His) c.4209G>C (p.Gln1403His) c.4206G>C (p.Gln1402His) c.4125G>C (p.Gln1375His) c.4056G>C (p.Gln1352His) c.3924G>C (p.Gln1308His) c.3792G>C (p.Gln1264His) | |
20 | g.32436657G>T | CA408564123 | ASXL1 | c.3945G>T (p.Gln1315His) c.3762G>T (p.Gln1254His) n.6298G>T c.1870-1773G>T (n.1870-1773G>T) c.3930G>T (p.Gln1310His) c.3942G>T (p.Gln1314His) c.3915G>T (p.Gln1305His) c.3861G>T (p.Gln1287His) c.3261G>T (p.Gln1087His) c.4209G>T (p.Gln1403His) c.4206G>T (p.Gln1402His) c.4125G>T (p.Gln1375His) c.4056G>T (p.Gln1352His) c.3924G>T (p.Gln1308His) c.3792G>T (p.Gln1264His) | |
20 | g.32436658C>A | CA408564124 | ASXL1 | c.3946C>A (p.Arg1316Ser) c.3763C>A (p.Arg1255Ser) n.6299C>A c.1870-1772C>A (n.1870-1772C>A) c.3931C>A (p.Arg1311Ser) c.3943C>A (p.Arg1315Ser) c.3916C>A (p.Arg1306Ser) c.3862C>A (p.Arg1288Ser) c.3262C>A (p.Arg1088Ser) c.4210C>A (p.Arg1404Ser) c.4207C>A (p.Arg1403Ser) c.4126C>A (p.Arg1376Ser) c.4057C>A (p.Arg1353Ser) c.3925C>A (p.Arg1309Ser) c.3793C>A (p.Arg1265Ser) | |
20 | g.32436658C= | CA2360293804 | ASXL1 | c.3946C= (p.Arg1316=) c.3763C= (p.Arg1255=) n.6299C= c.1870-1772C= (n.1870-1772C=) c.3931C= (p.Arg1311=) c.3943C= (p.Arg1315=) c.3916C= (p.Arg1306=) c.3862C= (p.Arg1288=) c.3262C= (p.Arg1088=) c.4210C= (p.Arg1404=) c.4207C= (p.Arg1403=) c.4126C= (p.Arg1376=) c.4057C= (p.Arg1353=) c.3925C= (p.Arg1309=) c.3793C= (p.Arg1265=) | |
20 | g.32436658C>G | CA408564125 | ASXL1 | c.3946C>G (p.Arg1316Gly) c.3763C>G (p.Arg1255Gly) n.6299C>G c.1870-1772C>G (n.1870-1772C>G) c.3931C>G (p.Arg1311Gly) c.3943C>G (p.Arg1315Gly) c.3916C>G (p.Arg1306Gly) c.3862C>G (p.Arg1288Gly) c.3262C>G (p.Arg1088Gly) c.4210C>G (p.Arg1404Gly) c.4207C>G (p.Arg1403Gly) c.4126C>G (p.Arg1376Gly) c.4057C>G (p.Arg1353Gly) c.3925C>G (p.Arg1309Gly) c.3793C>G (p.Arg1265Gly) | ClinVar dbSNP gnomAD v4 |
20 | g.32436658C>T | CA9808929 | ASXL1 | c.3946C>T (p.Arg1316Cys) c.3763C>T (p.Arg1255Cys) n.6299C>T c.1870-1772C>T (n.1870-1772C>T) c.3931C>T (p.Arg1311Cys) c.3943C>T (p.Arg1315Cys) c.3916C>T (p.Arg1306Cys) c.3862C>T (p.Arg1288Cys) c.3262C>T (p.Arg1088Cys) c.4210C>T (p.Arg1404Cys) c.4207C>T (p.Arg1403Cys) c.4126C>T (p.Arg1376Cys) c.4057C>T (p.Arg1353Cys) c.3925C>T (p.Arg1309Cys) c.3793C>T (p.Arg1265Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436659G>A | CA9808930 | ASXL1 | c.3947G>A (p.Arg1316His) c.3764G>A (p.Arg1255His) n.6300G>A c.1870-1771G>A (n.1870-1771G>A) c.3932G>A (p.Arg1311His) c.3944G>A (p.Arg1315His) c.3917G>A (p.Arg1306His) c.3863G>A (p.Arg1288His) c.3263G>A (p.Arg1088His) c.4211G>A (p.Arg1404His) c.4208G>A (p.Arg1403His) c.4127G>A (p.Arg1376His) c.4058G>A (p.Arg1353His) c.3926G>A (p.Arg1309His) c.3794G>A (p.Arg1265His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.32436659G>C | CA408564126 | ASXL1 | c.3947G>C (p.Arg1316Pro) c.3764G>C (p.Arg1255Pro) n.6300G>C c.1870-1771G>C (n.1870-1771G>C) c.3932G>C (p.Arg1311Pro) c.3944G>C (p.Arg1315Pro) c.3917G>C (p.Arg1306Pro) c.3863G>C (p.Arg1288Pro) c.3263G>C (p.Arg1088Pro) c.4211G>C (p.Arg1404Pro) c.4208G>C (p.Arg1403Pro) c.4127G>C (p.Arg1376Pro) c.4058G>C (p.Arg1353Pro) c.3926G>C (p.Arg1309Pro) c.3794G>C (p.Arg1265Pro) | dbSNP |
20 | g.32436659G= | CA2360293805 | ASXL1 | c.3947G= (p.Arg1316=) c.3764G= (p.Arg1255=) n.6300G= c.1870-1771G= (n.1870-1771G=) c.3932G= (p.Arg1311=) c.3944G= (p.Arg1315=) c.3917G= (p.Arg1306=) c.3863G= (p.Arg1288=) c.3263G= (p.Arg1088=) c.4211G= (p.Arg1404=) c.4208G= (p.Arg1403=) c.4127G= (p.Arg1376=) c.4058G= (p.Arg1353=) c.3926G= (p.Arg1309=) c.3794G= (p.Arg1265=) | |
20 | g.32436659G>T | CA9808931 | ASXL1 | c.3947G>T (p.Arg1316Leu) c.3764G>T (p.Arg1255Leu) n.6300G>T c.1870-1771G>T (n.1870-1771G>T) c.3932G>T (p.Arg1311Leu) c.3944G>T (p.Arg1315Leu) c.3917G>T (p.Arg1306Leu) c.3863G>T (p.Arg1288Leu) c.3263G>T (p.Arg1088Leu) c.4211G>T (p.Arg1404Leu) c.4208G>T (p.Arg1403Leu) c.4127G>T (p.Arg1376Leu) c.4058G>T (p.Arg1353Leu) c.3926G>T (p.Arg1309Leu) c.3794G>T (p.Arg1265Leu) | dbSNP ExAC gnomAD v4 |
20 | g.32436660C>A | CA510467516 | ASXL1 | c.3948C>A (p.Arg1316=) c.3765C>A (p.Arg1255=) n.6301C>A c.1870-1770C>A (n.1870-1770C>A) c.3933C>A (p.Arg1311=) c.3945C>A (p.Arg1315=) c.3918C>A (p.Arg1306=) c.3864C>A (p.Arg1288=) c.3264C>A (p.Arg1088=) c.4212C>A (p.Arg1404=) c.4209C>A (p.Arg1403=) c.4128C>A (p.Arg1376=) c.4059C>A (p.Arg1353=) c.3927C>A (p.Arg1309=) c.3795C>A (p.Arg1265=) | dbSNP |
20 | g.32436660C>G | CA510467517 | ASXL1 | c.3948C>G (p.Arg1316=) c.3765C>G (p.Arg1255=) n.6301C>G c.1870-1770C>G (n.1870-1770C>G) c.3933C>G (p.Arg1311=) c.3945C>G (p.Arg1315=) c.3918C>G (p.Arg1306=) c.3864C>G (p.Arg1288=) c.3264C>G (p.Arg1088=) c.4212C>G (p.Arg1404=) c.4209C>G (p.Arg1403=) c.4128C>G (p.Arg1376=) c.4059C>G (p.Arg1353=) c.3927C>G (p.Arg1309=) c.3795C>G (p.Arg1265=) | |
20 | g.32436660C>T | CA510467518 | ASXL1 | c.3948C>T (p.Arg1316=) c.3765C>T (p.Arg1255=) n.6301C>T c.1870-1770C>T (n.1870-1770C>T) c.3933C>T (p.Arg1311=) c.3945C>T (p.Arg1315=) c.3918C>T (p.Arg1306=) c.3864C>T (p.Arg1288=) c.3264C>T (p.Arg1088=) c.4212C>T (p.Arg1404=) c.4209C>T (p.Arg1403=) c.4128C>T (p.Arg1376=) c.4059C>T (p.Arg1353=) c.3927C>T (p.Arg1309=) c.3795C>T (p.Arg1265=) | |
20 | g.32436661C>A | CA313926368 | ASXL1 | c.3949C>A (p.Pro1317Thr) c.3766C>A (p.Pro1256Thr) n.6302C>A c.1870-1769C>A (n.1870-1769C>A) c.3934C>A (p.Pro1312Thr) c.3946C>A (p.Pro1316Thr) c.3919C>A (p.Pro1307Thr) c.3865C>A (p.Pro1289Thr) c.3265C>A (p.Pro1089Thr) c.4213C>A (p.Pro1405Thr) c.4210C>A (p.Pro1404Thr) c.4129C>A (p.Pro1377Thr) c.4060C>A (p.Pro1354Thr) c.3928C>A (p.Pro1310Thr) c.3796C>A (p.Pro1266Thr) | ClinVar dbSNP gnomAD v4 |
20 | g.32436661C= | CA2360293806 | ASXL1 | c.3949C= (p.Pro1317=) c.3766C= (p.Pro1256=) n.6302C= c.1870-1769C= (n.1870-1769C=) c.3934C= (p.Pro1312=) c.3946C= (p.Pro1316=) c.3919C= (p.Pro1307=) c.3865C= (p.Pro1289=) c.3265C= (p.Pro1089=) c.4213C= (p.Pro1405=) c.4210C= (p.Pro1404=) c.4129C= (p.Pro1377=) c.4060C= (p.Pro1354=) c.3928C= (p.Pro1310=) c.3796C= (p.Pro1266=) | |
20 | g.32436661C>G | CA408564127 | ASXL1 | c.3949C>G (p.Pro1317Ala) c.3766C>G (p.Pro1256Ala) n.6302C>G c.1870-1769C>G (n.1870-1769C>G) c.3934C>G (p.Pro1312Ala) c.3946C>G (p.Pro1316Ala) c.3919C>G (p.Pro1307Ala) c.3865C>G (p.Pro1289Ala) c.3265C>G (p.Pro1089Ala) c.4213C>G (p.Pro1405Ala) c.4210C>G (p.Pro1404Ala) c.4129C>G (p.Pro1377Ala) c.4060C>G (p.Pro1354Ala) c.3928C>G (p.Pro1310Ala) c.3796C>G (p.Pro1266Ala) | |
20 | g.32436661C>T | CA408564128 | ASXL1 | c.3949C>T (p.Pro1317Ser) c.3766C>T (p.Pro1256Ser) n.6302C>T c.1870-1769C>T (n.1870-1769C>T) c.3934C>T (p.Pro1312Ser) c.3946C>T (p.Pro1316Ser) c.3919C>T (p.Pro1307Ser) c.3865C>T (p.Pro1289Ser) c.3265C>T (p.Pro1089Ser) c.4213C>T (p.Pro1405Ser) c.4210C>T (p.Pro1404Ser) c.4129C>T (p.Pro1377Ser) c.4060C>T (p.Pro1354Ser) c.3928C>T (p.Pro1310Ser) c.3796C>T (p.Pro1266Ser) | |
20 | g.32436662C>A | CA408564129 | ASXL1 | c.3950C>A (p.Pro1317His) c.3767C>A (p.Pro1256His) n.6303C>A c.1870-1768C>A (n.1870-1768C>A) c.3935C>A (p.Pro1312His) c.3947C>A (p.Pro1316His) c.3920C>A (p.Pro1307His) c.3866C>A (p.Pro1289His) c.3266C>A (p.Pro1089His) c.4214C>A (p.Pro1405His) c.4211C>A (p.Pro1404His) c.4130C>A (p.Pro1377His) c.4061C>A (p.Pro1354His) c.3929C>A (p.Pro1310His) c.3797C>A (p.Pro1266His) | dbSNP |
20 | g.32436662C>G | CA408564130 | ASXL1 | c.3950C>G (p.Pro1317Arg) c.3767C>G (p.Pro1256Arg) n.6303C>G c.1870-1768C>G (n.1870-1768C>G) c.3935C>G (p.Pro1312Arg) c.3947C>G (p.Pro1316Arg) c.3920C>G (p.Pro1307Arg) c.3866C>G (p.Pro1289Arg) c.3266C>G (p.Pro1089Arg) c.4214C>G (p.Pro1405Arg) c.4211C>G (p.Pro1404Arg) c.4130C>G (p.Pro1377Arg) c.4061C>G (p.Pro1354Arg) c.3929C>G (p.Pro1310Arg) c.3797C>G (p.Pro1266Arg) | dbSNP |
20 | g.32436662C>T | CA408564131 | ASXL1 | c.3950C>T (p.Pro1317Leu) c.3767C>T (p.Pro1256Leu) n.6303C>T c.1870-1768C>T (n.1870-1768C>T) c.3935C>T (p.Pro1312Leu) c.3947C>T (p.Pro1316Leu) c.3920C>T (p.Pro1307Leu) c.3866C>T (p.Pro1289Leu) c.3266C>T (p.Pro1089Leu) c.4214C>T (p.Pro1405Leu) c.4211C>T (p.Pro1404Leu) c.4130C>T (p.Pro1377Leu) c.4061C>T (p.Pro1354Leu) c.3929C>T (p.Pro1310Leu) c.3797C>T (p.Pro1266Leu) | |
20 | g.32436663C>A | CA510467519 | ASXL1 | c.3951C>A (p.Pro1317=) c.3768C>A (p.Pro1256=) n.6304C>A c.1870-1767C>A (n.1870-1767C>A) c.3936C>A (p.Pro1312=) c.3948C>A (p.Pro1316=) c.3921C>A (p.Pro1307=) c.3867C>A (p.Pro1289=) c.3267C>A (p.Pro1089=) c.4215C>A (p.Pro1405=) c.4212C>A (p.Pro1404=) c.4131C>A (p.Pro1377=) c.4062C>A (p.Pro1354=) c.3930C>A (p.Pro1310=) c.3798C>A (p.Pro1266=) | |
20 | g.32436663C= | CA2360293807 | ASXL1 | c.3951C= (p.Pro1317=) c.3768C= (p.Pro1256=) n.6304C= c.1870-1767C= (n.1870-1767C=) c.3936C= (p.Pro1312=) c.3948C= (p.Pro1316=) c.3921C= (p.Pro1307=) c.3867C= (p.Pro1289=) c.3267C= (p.Pro1089=) c.4215C= (p.Pro1405=) c.4212C= (p.Pro1404=) c.4131C= (p.Pro1377=) c.4062C= (p.Pro1354=) c.3930C= (p.Pro1310=) c.3798C= (p.Pro1266=) | |
20 | g.32436663C>G | CA510467521 | ASXL1 | c.3951C>G (p.Pro1317=) c.3768C>G (p.Pro1256=) n.6304C>G c.1870-1767C>G (n.1870-1767C>G) c.3936C>G (p.Pro1312=) c.3948C>G (p.Pro1316=) c.3921C>G (p.Pro1307=) c.3867C>G (p.Pro1289=) c.3267C>G (p.Pro1089=) c.4215C>G (p.Pro1405=) c.4212C>G (p.Pro1404=) c.4131C>G (p.Pro1377=) c.4062C>G (p.Pro1354=) c.3930C>G (p.Pro1310=) c.3798C>G (p.Pro1266=) | dbSNP gnomAD v4 |
20 | g.32436663C>T | CA510467520 | ASXL1 | c.3951C>T (p.Pro1317=) c.3768C>T (p.Pro1256=) n.6304C>T c.1870-1767C>T (n.1870-1767C>T) c.3936C>T (p.Pro1312=) c.3948C>T (p.Pro1316=) c.3921C>T (p.Pro1307=) c.3867C>T (p.Pro1289=) c.3267C>T (p.Pro1089=) c.4215C>T (p.Pro1405=) c.4212C>T (p.Pro1404=) c.4131C>T (p.Pro1377=) c.4062C>T (p.Pro1354=) c.3930C>T (p.Pro1310=) c.3798C>T (p.Pro1266=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436664A= | CA2360293808 | ASXL1 | c.3952A= (p.Arg1318=) c.3769A= (p.Arg1257=) n.6305A= c.1870-1766A= (n.1870-1766A=) c.3937A= (p.Arg1313=) c.3949A= (p.Arg1317=) c.3922A= (p.Arg1308=) c.3868A= (p.Arg1290=) c.3268A= (p.Arg1090=) c.4216A= (p.Arg1406=) c.4213A= (p.Arg1405=) c.4132A= (p.Arg1378=) c.4063A= (p.Arg1355=) c.3931A= (p.Arg1311=) c.3799A= (p.Arg1267=) | |
20 | g.32436664A>C | CA510467522 | ASXL1 | c.3952A>C (p.Arg1318=) c.3769A>C (p.Arg1257=) n.6305A>C c.1870-1766A>C (n.1870-1766A>C) c.3937A>C (p.Arg1313=) c.3949A>C (p.Arg1317=) c.3922A>C (p.Arg1308=) c.3868A>C (p.Arg1290=) c.3268A>C (p.Arg1090=) c.4216A>C (p.Arg1406=) c.4213A>C (p.Arg1405=) c.4132A>C (p.Arg1378=) c.4063A>C (p.Arg1355=) c.3931A>C (p.Arg1311=) c.3799A>C (p.Arg1267=) | |
20 | g.32436664A>G | CA408564132 | ASXL1 | c.3952A>G (p.Arg1318Gly) c.3769A>G (p.Arg1257Gly) n.6305A>G c.1870-1766A>G (n.1870-1766A>G) c.3937A>G (p.Arg1313Gly) c.3949A>G (p.Arg1317Gly) c.3922A>G (p.Arg1308Gly) c.3868A>G (p.Arg1290Gly) c.3268A>G (p.Arg1090Gly) c.4216A>G (p.Arg1406Gly) c.4213A>G (p.Arg1405Gly) c.4132A>G (p.Arg1378Gly) c.4063A>G (p.Arg1355Gly) c.3931A>G (p.Arg1311Gly) c.3799A>G (p.Arg1267Gly) | |
20 | g.32436664A>T | CA9808932 | ASXL1 | c.3952A>T (p.Arg1318Trp) c.3769A>T (p.Arg1257Trp) n.6305A>T c.1870-1766A>T (n.1870-1766A>T) c.3937A>T (p.Arg1313Trp) c.3949A>T (p.Arg1317Trp) c.3922A>T (p.Arg1308Trp) c.3868A>T (p.Arg1290Trp) c.3268A>T (p.Arg1090Trp) c.4216A>T (p.Arg1406Trp) c.4213A>T (p.Arg1405Trp) c.4132A>T (p.Arg1378Trp) c.4063A>T (p.Arg1355Trp) c.3931A>T (p.Arg1311Trp) c.3799A>T (p.Arg1267Trp) | ClinVar dbSNP ExAC gnomAD v4 |
20 | g.32436665G>A | CA408564133 | ASXL1 | c.3953G>A (p.Arg1318Lys) c.3770G>A (p.Arg1257Lys) n.6306G>A c.1870-1765G>A (n.1870-1765G>A) c.3938G>A (p.Arg1313Lys) c.3950G>A (p.Arg1317Lys) c.3923G>A (p.Arg1308Lys) c.3869G>A (p.Arg1290Lys) c.3269G>A (p.Arg1090Lys) c.4217G>A (p.Arg1406Lys) c.4214G>A (p.Arg1405Lys) c.4133G>A (p.Arg1378Lys) c.4064G>A (p.Arg1355Lys) c.3932G>A (p.Arg1311Lys) c.3800G>A (p.Arg1267Lys) | gnomAD v4 |
20 | g.32436665G>C | CA408564135 | ASXL1 | c.3953G>C (p.Arg1318Thr) c.3770G>C (p.Arg1257Thr) n.6306G>C c.1870-1765G>C (n.1870-1765G>C) c.3938G>C (p.Arg1313Thr) c.3950G>C (p.Arg1317Thr) c.3923G>C (p.Arg1308Thr) c.3869G>C (p.Arg1290Thr) c.3269G>C (p.Arg1090Thr) c.4217G>C (p.Arg1406Thr) c.4214G>C (p.Arg1405Thr) c.4133G>C (p.Arg1378Thr) c.4064G>C (p.Arg1355Thr) c.3932G>C (p.Arg1311Thr) c.3800G>C (p.Arg1267Thr) | dbSNP |
20 | g.32436665G>T | CA408564134 | ASXL1 | c.3953G>T (p.Arg1318Met) c.3770G>T (p.Arg1257Met) n.6306G>T c.1870-1765G>T (n.1870-1765G>T) c.3938G>T (p.Arg1313Met) c.3950G>T (p.Arg1317Met) c.3923G>T (p.Arg1308Met) c.3869G>T (p.Arg1290Met) c.3269G>T (p.Arg1090Met) c.4217G>T (p.Arg1406Met) c.4214G>T (p.Arg1405Met) c.4133G>T (p.Arg1378Met) c.4064G>T (p.Arg1355Met) c.3932G>T (p.Arg1311Met) c.3800G>T (p.Arg1267Met) | |
20 | g.32436666G>A | CA510467523 | ASXL1 | c.3954G>A (p.Arg1318=) c.3771G>A (p.Arg1257=) n.6307G>A c.1870-1764G>A (n.1870-1764G>A) c.3939G>A (p.Arg1313=) c.3951G>A (p.Arg1317=) c.3924G>A (p.Arg1308=) c.3870G>A (p.Arg1290=) c.3270G>A (p.Arg1090=) c.4218G>A (p.Arg1406=) c.4215G>A (p.Arg1405=) c.4134G>A (p.Arg1378=) c.4065G>A (p.Arg1355=) c.3933G>A (p.Arg1311=) c.3801G>A (p.Arg1267=) | gnomAD v4 |
20 | g.32436666G>C | CA408564136 | ASXL1 | c.3954G>C (p.Arg1318Ser) c.3771G>C (p.Arg1257Ser) n.6307G>C c.1870-1764G>C (n.1870-1764G>C) c.3939G>C (p.Arg1313Ser) c.3951G>C (p.Arg1317Ser) c.3924G>C (p.Arg1308Ser) c.3870G>C (p.Arg1290Ser) c.3270G>C (p.Arg1090Ser) c.4218G>C (p.Arg1406Ser) c.4215G>C (p.Arg1405Ser) c.4134G>C (p.Arg1378Ser) c.4065G>C (p.Arg1355Ser) c.3933G>C (p.Arg1311Ser) c.3801G>C (p.Arg1267Ser) | dbSNP |
20 | g.32436666G>T | CA408564137 | ASXL1 | c.3954G>T (p.Arg1318Ser) c.3771G>T (p.Arg1257Ser) n.6307G>T c.1870-1764G>T (n.1870-1764G>T) c.3939G>T (p.Arg1313Ser) c.3951G>T (p.Arg1317Ser) c.3924G>T (p.Arg1308Ser) c.3870G>T (p.Arg1290Ser) c.3270G>T (p.Arg1090Ser) c.4218G>T (p.Arg1406Ser) c.4215G>T (p.Arg1405Ser) c.4134G>T (p.Arg1378Ser) c.4065G>T (p.Arg1355Ser) c.3933G>T (p.Arg1311Ser) c.3801G>T (p.Arg1267Ser) | |
20 | g.32436667C>A | CA408564138 | ASXL1 | c.3955C>A (p.Pro1319Thr) c.3772C>A (p.Pro1258Thr) n.6308C>A c.1870-1763C>A (n.1870-1763C>A) c.3940C>A (p.Pro1314Thr) c.3952C>A (p.Pro1318Thr) c.3925C>A (p.Pro1309Thr) c.3871C>A (p.Pro1291Thr) c.3271C>A (p.Pro1091Thr) c.4219C>A (p.Pro1407Thr) c.4216C>A (p.Pro1406Thr) c.4135C>A (p.Pro1379Thr) c.4066C>A (p.Pro1356Thr) c.3934C>A (p.Pro1312Thr) c.3802C>A (p.Pro1268Thr) | dbSNP gnomAD v4 |
20 | g.32436667C>G | CA408564139 | ASXL1 | c.3955C>G (p.Pro1319Ala) c.3772C>G (p.Pro1258Ala) n.6308C>G c.1870-1763C>G (n.1870-1763C>G) c.3940C>G (p.Pro1314Ala) c.3952C>G (p.Pro1318Ala) c.3925C>G (p.Pro1309Ala) c.3871C>G (p.Pro1291Ala) c.3271C>G (p.Pro1091Ala) c.4219C>G (p.Pro1407Ala) c.4216C>G (p.Pro1406Ala) c.4135C>G (p.Pro1379Ala) c.4066C>G (p.Pro1356Ala) c.3934C>G (p.Pro1312Ala) c.3802C>G (p.Pro1268Ala) | |
20 | g.32436667C>T | CA408564140 | ASXL1 | c.3955C>T (p.Pro1319Ser) c.3772C>T (p.Pro1258Ser) n.6308C>T c.1870-1763C>T (n.1870-1763C>T) c.3940C>T (p.Pro1314Ser) c.3952C>T (p.Pro1318Ser) c.3925C>T (p.Pro1309Ser) c.3871C>T (p.Pro1291Ser) c.3271C>T (p.Pro1091Ser) c.4219C>T (p.Pro1407Ser) c.4216C>T (p.Pro1406Ser) c.4135C>T (p.Pro1379Ser) c.4066C>T (p.Pro1356Ser) c.3934C>T (p.Pro1312Ser) c.3802C>T (p.Pro1268Ser) | dbSNP |
20 | g.32436668C>A | CA408564141 | ASXL1 | c.3956C>A (p.Pro1319His) c.3773C>A (p.Pro1258His) n.6309C>A c.1870-1762C>A (n.1870-1762C>A) c.3941C>A (p.Pro1314His) c.3953C>A (p.Pro1318His) c.3926C>A (p.Pro1309His) c.3872C>A (p.Pro1291His) c.3272C>A (p.Pro1091His) c.4220C>A (p.Pro1407His) c.4217C>A (p.Pro1406His) c.4136C>A (p.Pro1379His) c.4067C>A (p.Pro1356His) c.3935C>A (p.Pro1312His) c.3803C>A (p.Pro1268His) | |
20 | g.32436668C= | CA2360293809 | ASXL1 | c.3956C= (p.Pro1319=) c.3773C= (p.Pro1258=) n.6309C= c.1870-1762C= (n.1870-1762C=) c.3941C= (p.Pro1314=) c.3953C= (p.Pro1318=) c.3926C= (p.Pro1309=) c.3872C= (p.Pro1291=) c.3272C= (p.Pro1091=) c.4220C= (p.Pro1407=) c.4217C= (p.Pro1406=) c.4136C= (p.Pro1379=) c.4067C= (p.Pro1356=) c.3935C= (p.Pro1312=) c.3803C= (p.Pro1268=) | |
20 | g.32436668C>G | CA408564142 | ASXL1 | c.3956C>G (p.Pro1319Arg) c.3773C>G (p.Pro1258Arg) n.6309C>G c.1870-1762C>G (n.1870-1762C>G) c.3941C>G (p.Pro1314Arg) c.3953C>G (p.Pro1318Arg) c.3926C>G (p.Pro1309Arg) c.3872C>G (p.Pro1291Arg) c.3272C>G (p.Pro1091Arg) c.4220C>G (p.Pro1407Arg) c.4217C>G (p.Pro1406Arg) c.4136C>G (p.Pro1379Arg) c.4067C>G (p.Pro1356Arg) c.3935C>G (p.Pro1312Arg) c.3803C>G (p.Pro1268Arg) | |
20 | g.32436668C>T | CA313926369 | ASXL1 | c.3956C>T (p.Pro1319Leu) c.3773C>T (p.Pro1258Leu) n.6309C>T c.1870-1762C>T (n.1870-1762C>T) c.3941C>T (p.Pro1314Leu) c.3953C>T (p.Pro1318Leu) c.3926C>T (p.Pro1309Leu) c.3872C>T (p.Pro1291Leu) c.3272C>T (p.Pro1091Leu) c.4220C>T (p.Pro1407Leu) c.4217C>T (p.Pro1406Leu) c.4136C>T (p.Pro1379Leu) c.4067C>T (p.Pro1356Leu) c.3935C>T (p.Pro1312Leu) c.3803C>T (p.Pro1268Leu) | dbSNP gnomAD v4 |
20 | g.32436669T>A | CA510467526 | ASXL1 | c.3957T>A (p.Pro1319=) c.3774T>A (p.Pro1258=) n.6310T>A c.1870-1761T>A (n.1870-1761T>A) c.3942T>A (p.Pro1314=) c.3954T>A (p.Pro1318=) c.3927T>A (p.Pro1309=) c.3873T>A (p.Pro1291=) c.3273T>A (p.Pro1091=) c.4221T>A (p.Pro1407=) c.4218T>A (p.Pro1406=) c.4137T>A (p.Pro1379=) c.4068T>A (p.Pro1356=) c.3936T>A (p.Pro1312=) c.3804T>A (p.Pro1268=) | |
20 | g.32436669T>C | CA510467525 | ASXL1 | c.3957T>C (p.Pro1319=) c.3774T>C (p.Pro1258=) n.6310T>C c.1870-1761T>C (n.1870-1761T>C) c.3942T>C (p.Pro1314=) c.3954T>C (p.Pro1318=) c.3927T>C (p.Pro1309=) c.3873T>C (p.Pro1291=) c.3273T>C (p.Pro1091=) c.4221T>C (p.Pro1407=) c.4218T>C (p.Pro1406=) c.4137T>C (p.Pro1379=) c.4068T>C (p.Pro1356=) c.3936T>C (p.Pro1312=) c.3804T>C (p.Pro1268=) | gnomAD v4 |
20 | g.32436669T>G | CA510467524 | ASXL1 | c.3957T>G (p.Pro1319=) c.3774T>G (p.Pro1258=) n.6310T>G c.1870-1761T>G (n.1870-1761T>G) c.3942T>G (p.Pro1314=) c.3954T>G (p.Pro1318=) c.3927T>G (p.Pro1309=) c.3873T>G (p.Pro1291=) c.3273T>G (p.Pro1091=) c.4221T>G (p.Pro1407=) c.4218T>G (p.Pro1406=) c.4137T>G (p.Pro1379=) c.4068T>G (p.Pro1356=) c.3936T>G (p.Pro1312=) c.3804T>G (p.Pro1268=) | |
20 | g.32436670G>A | CA408564143 | ASXL1 | c.3958G>A (p.Ala1320Thr) c.3775G>A (p.Ala1259Thr) n.6311G>A c.1870-1760G>A (n.1870-1760G>A) c.3943G>A (p.Ala1315Thr) c.3955G>A (p.Ala1319Thr) c.3928G>A (p.Ala1310Thr) c.3874G>A (p.Ala1292Thr) c.3274G>A (p.Ala1092Thr) c.4222G>A (p.Ala1408Thr) c.4219G>A (p.Ala1407Thr) c.4138G>A (p.Ala1380Thr) c.4069G>A (p.Ala1357Thr) c.3937G>A (p.Ala1313Thr) c.3805G>A (p.Ala1269Thr) | gnomAD v4 |
20 | g.32436670G>C | CA408564144 | ASXL1 | c.3958G>C (p.Ala1320Pro) c.3775G>C (p.Ala1259Pro) n.6311G>C c.1870-1760G>C (n.1870-1760G>C) c.3943G>C (p.Ala1315Pro) c.3955G>C (p.Ala1319Pro) c.3928G>C (p.Ala1310Pro) c.3874G>C (p.Ala1292Pro) c.3274G>C (p.Ala1092Pro) c.4222G>C (p.Ala1408Pro) c.4219G>C (p.Ala1407Pro) c.4138G>C (p.Ala1380Pro) c.4069G>C (p.Ala1357Pro) c.3937G>C (p.Ala1313Pro) c.3805G>C (p.Ala1269Pro) | dbSNP |
20 | g.32436670G>T | CA408564145 | ASXL1 | c.3958G>T (p.Ala1320Ser) c.3775G>T (p.Ala1259Ser) n.6311G>T c.1870-1760G>T (n.1870-1760G>T) c.3943G>T (p.Ala1315Ser) c.3955G>T (p.Ala1319Ser) c.3928G>T (p.Ala1310Ser) c.3874G>T (p.Ala1292Ser) c.3274G>T (p.Ala1092Ser) c.4222G>T (p.Ala1408Ser) c.4219G>T (p.Ala1407Ser) c.4138G>T (p.Ala1380Ser) c.4069G>T (p.Ala1357Ser) c.3937G>T (p.Ala1313Ser) c.3805G>T (p.Ala1269Ser) | |
20 | g.32436671C>A | CA408564147 | ASXL1 | c.3959C>A (p.Ala1320Glu) c.3776C>A (p.Ala1259Glu) n.6312C>A c.1870-1759C>A (n.1870-1759C>A) c.3944C>A (p.Ala1315Glu) c.3956C>A (p.Ala1319Glu) c.3929C>A (p.Ala1310Glu) c.3875C>A (p.Ala1292Glu) c.3275C>A (p.Ala1092Glu) c.4223C>A (p.Ala1408Glu) c.4220C>A (p.Ala1407Glu) c.4139C>A (p.Ala1380Glu) c.4070C>A (p.Ala1357Glu) c.3938C>A (p.Ala1313Glu) c.3806C>A (p.Ala1269Glu) | dbSNP |
20 | g.32436671C= | CA2360293810 | ASXL1 | c.3959C= (p.Ala1320=) c.3776C= (p.Ala1259=) n.6312C= c.1870-1759C= (n.1870-1759C=) c.3944C= (p.Ala1315=) c.3956C= (p.Ala1319=) c.3929C= (p.Ala1310=) c.3875C= (p.Ala1292=) c.3275C= (p.Ala1092=) c.4223C= (p.Ala1408=) c.4220C= (p.Ala1407=) c.4139C= (p.Ala1380=) c.4070C= (p.Ala1357=) c.3938C= (p.Ala1313=) c.3806C= (p.Ala1269=) | |
20 | g.32436671C>G | CA408564146 | ASXL1 | c.3959C>G (p.Ala1320Gly) c.3776C>G (p.Ala1259Gly) n.6312C>G c.1870-1759C>G (n.1870-1759C>G) c.3944C>G (p.Ala1315Gly) c.3956C>G (p.Ala1319Gly) c.3929C>G (p.Ala1310Gly) c.3875C>G (p.Ala1292Gly) c.3275C>G (p.Ala1092Gly) c.4223C>G (p.Ala1408Gly) c.4220C>G (p.Ala1407Gly) c.4139C>G (p.Ala1380Gly) c.4070C>G (p.Ala1357Gly) c.3938C>G (p.Ala1313Gly) c.3806C>G (p.Ala1269Gly) | |
20 | g.32436671C>T | CA9808933 | ASXL1 | c.3959C>T (p.Ala1320Val) c.3776C>T (p.Ala1259Val) n.6312C>T c.1870-1759C>T (n.1870-1759C>T) c.3944C>T (p.Ala1315Val) c.3956C>T (p.Ala1319Val) c.3929C>T (p.Ala1310Val) c.3875C>T (p.Ala1292Val) c.3275C>T (p.Ala1092Val) c.4223C>T (p.Ala1408Val) c.4220C>T (p.Ala1407Val) c.4139C>T (p.Ala1380Val) c.4070C>T (p.Ala1357Val) c.3938C>T (p.Ala1313Val) c.3806C>T (p.Ala1269Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.32436672G>A | CA510467527 | ASXL1 | c.3960G>A (p.Ala1320=) c.3777G>A (p.Ala1259=) n.6313G>A c.1870-1758G>A (n.1870-1758G>A) c.3945G>A (p.Ala1315=) c.3957G>A (p.Ala1319=) c.3930G>A (p.Ala1310=) c.3876G>A (p.Ala1292=) c.3276G>A (p.Ala1092=) c.4224G>A (p.Ala1408=) c.4221G>A (p.Ala1407=) c.4140G>A (p.Ala1380=) c.4071G>A (p.Ala1357=) c.3939G>A (p.Ala1313=) c.3807G>A (p.Ala1269=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436672G>C | CA510467528 | ASXL1 | c.3960G>C (p.Ala1320=) c.3777G>C (p.Ala1259=) n.6313G>C c.1870-1758G>C (n.1870-1758G>C) c.3945G>C (p.Ala1315=) c.3957G>C (p.Ala1319=) c.3930G>C (p.Ala1310=) c.3876G>C (p.Ala1292=) c.3276G>C (p.Ala1092=) c.4224G>C (p.Ala1408=) c.4221G>C (p.Ala1407=) c.4140G>C (p.Ala1380=) c.4071G>C (p.Ala1357=) c.3939G>C (p.Ala1313=) c.3807G>C (p.Ala1269=) | dbSNP |
20 | g.32436672G= | CA2360293811 | ASXL1 | c.3960G= (p.Ala1320=) c.3777G= (p.Ala1259=) n.6313G= c.1870-1758G= (n.1870-1758G=) c.3945G= (p.Ala1315=) c.3957G= (p.Ala1319=) c.3930G= (p.Ala1310=) c.3876G= (p.Ala1292=) c.3276G= (p.Ala1092=) c.4224G= (p.Ala1408=) c.4221G= (p.Ala1407=) c.4140G= (p.Ala1380=) c.4071G= (p.Ala1357=) c.3939G= (p.Ala1313=) c.3807G= (p.Ala1269=) | |
20 | g.32436672G>T | CA510467529 | ASXL1 | c.3960G>T (p.Ala1320=) c.3777G>T (p.Ala1259=) n.6313G>T c.1870-1758G>T (n.1870-1758G>T) c.3945G>T (p.Ala1315=) c.3957G>T (p.Ala1319=) c.3930G>T (p.Ala1310=) c.3876G>T (p.Ala1292=) c.3276G>T (p.Ala1092=) c.4224G>T (p.Ala1408=) c.4221G>T (p.Ala1407=) c.4140G>T (p.Ala1380=) c.4071G>T (p.Ala1357=) c.3939G>T (p.Ala1313=) c.3807G>T (p.Ala1269=) | |
20 | g.32436673G>A | CA408564148 | ASXL1 | c.3961G>A (p.Asp1321Asn) c.3778G>A (p.Asp1260Asn) n.6314G>A c.1870-1757G>A (n.1870-1757G>A) c.3946G>A (p.Asp1316Asn) c.3958G>A (p.Asp1320Asn) c.3931G>A (p.Asp1311Asn) c.3877G>A (p.Asp1293Asn) c.3277G>A (p.Asp1093Asn) c.4225G>A (p.Asp1409Asn) c.4222G>A (p.Asp1408Asn) c.4141G>A (p.Asp1381Asn) c.4072G>A (p.Asp1358Asn) c.3940G>A (p.Asp1314Asn) c.3808G>A (p.Asp1270Asn) | |
20 | g.32436673G>C | CA408564149 | ASXL1 | c.3961G>C (p.Asp1321His) c.3778G>C (p.Asp1260His) n.6314G>C c.1870-1757G>C (n.1870-1757G>C) c.3946G>C (p.Asp1316His) c.3958G>C (p.Asp1320His) c.3931G>C (p.Asp1311His) c.3877G>C (p.Asp1293His) c.3277G>C (p.Asp1093His) c.4225G>C (p.Asp1409His) c.4222G>C (p.Asp1408His) c.4141G>C (p.Asp1381His) c.4072G>C (p.Asp1358His) c.3940G>C (p.Asp1314His) c.3808G>C (p.Asp1270His) | dbSNP |
20 | g.32436673G>T | CA408564150 | ASXL1 | c.3961G>T (p.Asp1321Tyr) c.3778G>T (p.Asp1260Tyr) n.6314G>T c.1870-1757G>T (n.1870-1757G>T) c.3946G>T (p.Asp1316Tyr) c.3958G>T (p.Asp1320Tyr) c.3931G>T (p.Asp1311Tyr) c.3877G>T (p.Asp1293Tyr) c.3277G>T (p.Asp1093Tyr) c.4225G>T (p.Asp1409Tyr) c.4222G>T (p.Asp1408Tyr) c.4141G>T (p.Asp1381Tyr) c.4072G>T (p.Asp1358Tyr) c.3940G>T (p.Asp1314Tyr) c.3808G>T (p.Asp1270Tyr) | |
20 | g.32436674A>C | CA408564151 | ASXL1 | c.3962A>C (p.Asp1321Ala) c.3779A>C (p.Asp1260Ala) n.6315A>C c.1870-1756A>C (n.1870-1756A>C) c.3947A>C (p.Asp1316Ala) c.3959A>C (p.Asp1320Ala) c.3932A>C (p.Asp1311Ala) c.3878A>C (p.Asp1293Ala) c.3278A>C (p.Asp1093Ala) c.4226A>C (p.Asp1409Ala) c.4223A>C (p.Asp1408Ala) c.4142A>C (p.Asp1381Ala) c.4073A>C (p.Asp1358Ala) c.3941A>C (p.Asp1314Ala) c.3809A>C (p.Asp1270Ala) | dbSNP |
20 | g.32436674A>G | CA408564152 | ASXL1 | c.3962A>G (p.Asp1321Gly) c.3779A>G (p.Asp1260Gly) n.6315A>G c.1870-1756A>G (n.1870-1756A>G) c.3947A>G (p.Asp1316Gly) c.3959A>G (p.Asp1320Gly) c.3932A>G (p.Asp1311Gly) c.3878A>G (p.Asp1293Gly) c.3278A>G (p.Asp1093Gly) c.4226A>G (p.Asp1409Gly) c.4223A>G (p.Asp1408Gly) c.4142A>G (p.Asp1381Gly) c.4073A>G (p.Asp1358Gly) c.3941A>G (p.Asp1314Gly) c.3809A>G (p.Asp1270Gly) | |
20 | g.32436674A>T | CA408564153 | ASXL1 | c.3962A>T (p.Asp1321Val) c.3779A>T (p.Asp1260Val) n.6315A>T c.1870-1756A>T (n.1870-1756A>T) c.3947A>T (p.Asp1316Val) c.3959A>T (p.Asp1320Val) c.3932A>T (p.Asp1311Val) c.3878A>T (p.Asp1293Val) c.3278A>T (p.Asp1093Val) c.4226A>T (p.Asp1409Val) c.4223A>T (p.Asp1408Val) c.4142A>T (p.Asp1381Val) c.4073A>T (p.Asp1358Val) c.3941A>T (p.Asp1314Val) c.3809A>T (p.Asp1270Val) | dbSNP |
20 | g.32436675C>A | CA408564154 | ASXL1 | c.3963C>A (p.Asp1321Glu) c.3780C>A (p.Asp1260Glu) n.6316C>A c.1870-1755C>A (n.1870-1755C>A) c.3948C>A (p.Asp1316Glu) c.3960C>A (p.Asp1320Glu) c.3933C>A (p.Asp1311Glu) c.3879C>A (p.Asp1293Glu) c.3279C>A (p.Asp1093Glu) c.4227C>A (p.Asp1409Glu) c.4224C>A (p.Asp1408Glu) c.4143C>A (p.Asp1381Glu) c.4074C>A (p.Asp1358Glu) c.3942C>A (p.Asp1314Glu) c.3810C>A (p.Asp1270Glu) | dbSNP |
20 | g.32436675C>G | CA408564155 | ASXL1 | c.3963C>G (p.Asp1321Glu) c.3780C>G (p.Asp1260Glu) n.6316C>G c.1870-1755C>G (n.1870-1755C>G) c.3948C>G (p.Asp1316Glu) c.3960C>G (p.Asp1320Glu) c.3933C>G (p.Asp1311Glu) c.3879C>G (p.Asp1293Glu) c.3279C>G (p.Asp1093Glu) c.4227C>G (p.Asp1409Glu) c.4224C>G (p.Asp1408Glu) c.4143C>G (p.Asp1381Glu) c.4074C>G (p.Asp1358Glu) c.3942C>G (p.Asp1314Glu) c.3810C>G (p.Asp1270Glu) | |
20 | g.32436675C>T | CA510467530 | ASXL1 | c.3963C>T (p.Asp1321=) c.3780C>T (p.Asp1260=) n.6316C>T c.1870-1755C>T (n.1870-1755C>T) c.3948C>T (p.Asp1316=) c.3960C>T (p.Asp1320=) c.3933C>T (p.Asp1311=) c.3879C>T (p.Asp1293=) c.3279C>T (p.Asp1093=) c.4227C>T (p.Asp1409=) c.4224C>T (p.Asp1408=) c.4143C>T (p.Asp1381=) c.4074C>T (p.Asp1358=) c.3942C>T (p.Asp1314=) c.3810C>T (p.Asp1270=) | |
20 | g.32436676C>A | CA408564156 | ASXL1 | c.3964C>A (p.Pro1322Thr) c.3781C>A (p.Pro1261Thr) n.6317C>A c.1870-1754C>A (n.1870-1754C>A) c.3949C>A (p.Pro1317Thr) c.3961C>A (p.Pro1321Thr) c.3934C>A (p.Pro1312Thr) c.3880C>A (p.Pro1294Thr) c.3280C>A (p.Pro1094Thr) c.4228C>A (p.Pro1410Thr) c.4225C>A (p.Pro1409Thr) c.4144C>A (p.Pro1382Thr) c.4075C>A (p.Pro1359Thr) c.3943C>A (p.Pro1315Thr) c.3811C>A (p.Pro1271Thr) | |
20 | g.32436676C= | CA2360293812 | ASXL1 | c.3964C= (p.Pro1322=) c.3781C= (p.Pro1261=) n.6317C= c.1870-1754C= (n.1870-1754C=) c.3949C= (p.Pro1317=) c.3961C= (p.Pro1321=) c.3934C= (p.Pro1312=) c.3880C= (p.Pro1294=) c.3280C= (p.Pro1094=) c.4228C= (p.Pro1410=) c.4225C= (p.Pro1409=) c.4144C= (p.Pro1382=) c.4075C= (p.Pro1359=) c.3943C= (p.Pro1315=) c.3811C= (p.Pro1271=) | |
20 | g.32436676C>G | CA408564157 | ASXL1 | c.3964C>G (p.Pro1322Ala) c.3781C>G (p.Pro1261Ala) n.6317C>G c.1870-1754C>G (n.1870-1754C>G) c.3949C>G (p.Pro1317Ala) c.3961C>G (p.Pro1321Ala) c.3934C>G (p.Pro1312Ala) c.3880C>G (p.Pro1294Ala) c.3280C>G (p.Pro1094Ala) c.4228C>G (p.Pro1410Ala) c.4225C>G (p.Pro1409Ala) c.4144C>G (p.Pro1382Ala) c.4075C>G (p.Pro1359Ala) c.3943C>G (p.Pro1315Ala) c.3811C>G (p.Pro1271Ala) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436676C>T | CA408564158 | ASXL1 | c.3964C>T (p.Pro1322Ser) c.3781C>T (p.Pro1261Ser) n.6317C>T c.1870-1754C>T (n.1870-1754C>T) c.3949C>T (p.Pro1317Ser) c.3961C>T (p.Pro1321Ser) c.3934C>T (p.Pro1312Ser) c.3880C>T (p.Pro1294Ser) c.3280C>T (p.Pro1094Ser) c.4228C>T (p.Pro1410Ser) c.4225C>T (p.Pro1409Ser) c.4144C>T (p.Pro1382Ser) c.4075C>T (p.Pro1359Ser) c.3943C>T (p.Pro1315Ser) c.3811C>T (p.Pro1271Ser) | dbSNP gnomAD v4 |
20 | g.32436677C>A | CA408564159 | ASXL1 | c.3965C>A (p.Pro1322Gln) c.3782C>A (p.Pro1261Gln) n.6318C>A c.1870-1753C>A (n.1870-1753C>A) c.3950C>A (p.Pro1317Gln) c.3962C>A (p.Pro1321Gln) c.3935C>A (p.Pro1312Gln) c.3881C>A (p.Pro1294Gln) c.3281C>A (p.Pro1094Gln) c.4229C>A (p.Pro1410Gln) c.4226C>A (p.Pro1409Gln) c.4145C>A (p.Pro1382Gln) c.4076C>A (p.Pro1359Gln) c.3944C>A (p.Pro1315Gln) c.3812C>A (p.Pro1271Gln) | dbSNP |
20 | g.32436677C= | CA2360293813 | ASXL1 | c.3965C= (p.Pro1322=) c.3782C= (p.Pro1261=) n.6318C= c.1870-1753C= (n.1870-1753C=) c.3950C= (p.Pro1317=) c.3962C= (p.Pro1321=) c.3935C= (p.Pro1312=) c.3881C= (p.Pro1294=) c.3281C= (p.Pro1094=) c.4229C= (p.Pro1410=) c.4226C= (p.Pro1409=) c.4145C= (p.Pro1382=) c.4076C= (p.Pro1359=) c.3944C= (p.Pro1315=) c.3812C= (p.Pro1271=) | |
20 | g.32436677C>G | CA9808934 | ASXL1 | c.3965C>G (p.Pro1322Arg) c.3782C>G (p.Pro1261Arg) n.6318C>G c.1870-1753C>G (n.1870-1753C>G) c.3950C>G (p.Pro1317Arg) c.3962C>G (p.Pro1321Arg) c.3935C>G (p.Pro1312Arg) c.3881C>G (p.Pro1294Arg) c.3281C>G (p.Pro1094Arg) c.4229C>G (p.Pro1410Arg) c.4226C>G (p.Pro1409Arg) c.4145C>G (p.Pro1382Arg) c.4076C>G (p.Pro1359Arg) c.3944C>G (p.Pro1315Arg) c.3812C>G (p.Pro1271Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.32436677C>T | CA9808935 | ASXL1 | c.3965C>T (p.Pro1322Leu) c.3782C>T (p.Pro1261Leu) n.6318C>T c.1870-1753C>T (n.1870-1753C>T) c.3950C>T (p.Pro1317Leu) c.3962C>T (p.Pro1321Leu) c.3935C>T (p.Pro1312Leu) c.3881C>T (p.Pro1294Leu) c.3281C>T (p.Pro1094Leu) c.4229C>T (p.Pro1410Leu) c.4226C>T (p.Pro1409Leu) c.4145C>T (p.Pro1382Leu) c.4076C>T (p.Pro1359Leu) c.3944C>T (p.Pro1315Leu) c.3812C>T (p.Pro1271Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436678G>A | CA9808936 | ASXL1 | c.3966G>A (p.Pro1322=) c.3783G>A (p.Pro1261=) n.6319G>A c.1870-1752G>A (n.1870-1752G>A) c.3951G>A (p.Pro1317=) c.3963G>A (p.Pro1321=) c.3936G>A (p.Pro1312=) c.3882G>A (p.Pro1294=) c.3282G>A (p.Pro1094=) c.4230G>A (p.Pro1410=) c.4227G>A (p.Pro1409=) c.4146G>A (p.Pro1382=) c.4077G>A (p.Pro1359=) c.3945G>A (p.Pro1315=) c.3813G>A (p.Pro1271=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436678G>C | CA510467531 | ASXL1 | c.3966G>C (p.Pro1322=) c.3783G>C (p.Pro1261=) n.6319G>C c.1870-1752G>C (n.1870-1752G>C) c.3951G>C (p.Pro1317=) c.3963G>C (p.Pro1321=) c.3936G>C (p.Pro1312=) c.3882G>C (p.Pro1294=) c.3282G>C (p.Pro1094=) c.4230G>C (p.Pro1410=) c.4227G>C (p.Pro1409=) c.4146G>C (p.Pro1382=) c.4077G>C (p.Pro1359=) c.3945G>C (p.Pro1315=) c.3813G>C (p.Pro1271=) | dbSNP |
20 | g.32436678G= | CA2360293814 | ASXL1 | c.3966G= (p.Pro1322=) c.3783G= (p.Pro1261=) n.6319G= c.1870-1752G= (n.1870-1752G=) c.3951G= (p.Pro1317=) c.3963G= (p.Pro1321=) c.3936G= (p.Pro1312=) c.3882G= (p.Pro1294=) c.3282G= (p.Pro1094=) c.4230G= (p.Pro1410=) c.4227G= (p.Pro1409=) c.4146G= (p.Pro1382=) c.4077G= (p.Pro1359=) c.3945G= (p.Pro1315=) c.3813G= (p.Pro1271=) | |
20 | g.32436678G>T | CA510467532 | ASXL1 | c.3966G>T (p.Pro1322=) c.3783G>T (p.Pro1261=) n.6319G>T c.1870-1752G>T (n.1870-1752G>T) c.3951G>T (p.Pro1317=) c.3963G>T (p.Pro1321=) c.3936G>T (p.Pro1312=) c.3882G>T (p.Pro1294=) c.3282G>T (p.Pro1094=) c.4230G>T (p.Pro1410=) c.4227G>T (p.Pro1409=) c.4146G>T (p.Pro1382=) c.4077G>T (p.Pro1359=) c.3945G>T (p.Pro1315=) c.3813G>T (p.Pro1271=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
20 | g.32436678_32436679del | CA635268571 | ASXL1 | c.3966_3967del (p.Met1323AlafsTer5) c.3783_3784del (p.Met1262AlafsTer5) n.6319_6320del c.1870-1752_1870-1751del (n.1870-1752_1870-1751del) c.3951_3952del (p.Met1318AlafsTer5) c.3963_3964del (p.Met1322AlafsTer5) c.3936_3937del (p.Met1313AlafsTer5) c.3882_3883del (p.Met1295AlafsTer5) c.3282_3283del (p.Met1095AlafsTer5) c.4230_4231del (p.Met1411AlafsTer5) c.4227_4228del (p.Met1410AlafsTer5) c.4146_4147del (p.Met1383AlafsTer5) c.4077_4078del (p.Met1360AlafsTer5) c.3945_3946del (p.Met1316AlafsTer5) c.3813_3814del (p.Met1272AlafsTer5) | gnomAD v2 gnomAD v4 |
20 | g.32436679A= | CA2360293815 | ASXL1 | c.3967A= (p.Met1323=) c.3784A= (p.Met1262=) n.6320A= c.1870-1751A= (n.1870-1751A=) c.3952A= (p.Met1318=) c.3964A= (p.Met1322=) c.3937A= (p.Met1313=) c.3883A= (p.Met1295=) c.3283A= (p.Met1095=) c.4231A= (p.Met1411=) c.4228A= (p.Met1410=) c.4147A= (p.Met1383=) c.4078A= (p.Met1360=) c.3946A= (p.Met1316=) c.3814A= (p.Met1272=) | |
20 | g.32436679A>C | CA408564160 | ASXL1 | c.3967A>C (p.Met1323Leu) c.3784A>C (p.Met1262Leu) n.6320A>C c.1870-1751A>C (n.1870-1751A>C) c.3952A>C (p.Met1318Leu) c.3964A>C (p.Met1322Leu) c.3937A>C (p.Met1313Leu) c.3883A>C (p.Met1295Leu) c.3283A>C (p.Met1095Leu) c.4231A>C (p.Met1411Leu) c.4228A>C (p.Met1410Leu) c.4147A>C (p.Met1383Leu) c.4078A>C (p.Met1360Leu) c.3946A>C (p.Met1316Leu) c.3814A>C (p.Met1272Leu) | |
20 | g.32436679A>G | CA408564161 | ASXL1 | c.3967A>G (p.Met1323Val) c.3784A>G (p.Met1262Val) n.6320A>G c.1870-1751A>G (n.1870-1751A>G) c.3952A>G (p.Met1318Val) c.3964A>G (p.Met1322Val) c.3937A>G (p.Met1313Val) c.3883A>G (p.Met1295Val) c.3283A>G (p.Met1095Val) c.4231A>G (p.Met1411Val) c.4228A>G (p.Met1410Val) c.4147A>G (p.Met1383Val) c.4078A>G (p.Met1360Val) c.3946A>G (p.Met1316Val) c.3814A>G (p.Met1272Val) | dbSNP gnomAD v4 COSMIC COSMIC |
20 | g.32436679A>T | CA408564162 | ASXL1 | c.3967A>T (p.Met1323Leu) c.3784A>T (p.Met1262Leu) n.6320A>T c.1870-1751A>T (n.1870-1751A>T) c.3952A>T (p.Met1318Leu) c.3964A>T (p.Met1322Leu) c.3937A>T (p.Met1313Leu) c.3883A>T (p.Met1295Leu) c.3283A>T (p.Met1095Leu) c.4231A>T (p.Met1411Leu) c.4228A>T (p.Met1410Leu) c.4147A>T (p.Met1383Leu) c.4078A>T (p.Met1360Leu) c.3946A>T (p.Met1316Leu) c.3814A>T (p.Met1272Leu) | dbSNP |
20 | g.32436680T>A | CA408564163 | ASXL1 | c.3968T>A (p.Met1323Lys) c.3785T>A (p.Met1262Lys) n.6321T>A c.1870-1750T>A (n.1870-1750T>A) c.3953T>A (p.Met1318Lys) c.3965T>A (p.Met1322Lys) c.3938T>A (p.Met1313Lys) c.3884T>A (p.Met1295Lys) c.3284T>A (p.Met1095Lys) c.4232T>A (p.Met1411Lys) c.4229T>A (p.Met1410Lys) c.4148T>A (p.Met1383Lys) c.4079T>A (p.Met1360Lys) c.3947T>A (p.Met1316Lys) c.3815T>A (p.Met1272Lys) | |
20 | g.32436680T>C | CA408564164 | ASXL1 | c.3968T>C (p.Met1323Thr) c.3785T>C (p.Met1262Thr) n.6321T>C c.1870-1750T>C (n.1870-1750T>C) c.3953T>C (p.Met1318Thr) c.3965T>C (p.Met1322Thr) c.3938T>C (p.Met1313Thr) c.3884T>C (p.Met1295Thr) c.3284T>C (p.Met1095Thr) c.4232T>C (p.Met1411Thr) c.4229T>C (p.Met1410Thr) c.4148T>C (p.Met1383Thr) c.4079T>C (p.Met1360Thr) c.3947T>C (p.Met1316Thr) c.3815T>C (p.Met1272Thr) | |
20 | g.32436680T>G | CA408564165 | ASXL1 | c.3968T>G (p.Met1323Arg) c.3785T>G (p.Met1262Arg) n.6321T>G c.1870-1750T>G (n.1870-1750T>G) c.3953T>G (p.Met1318Arg) c.3965T>G (p.Met1322Arg) c.3938T>G (p.Met1313Arg) c.3884T>G (p.Met1295Arg) c.3284T>G (p.Met1095Arg) c.4232T>G (p.Met1411Arg) c.4229T>G (p.Met1410Arg) c.4148T>G (p.Met1383Arg) c.4079T>G (p.Met1360Arg) c.3947T>G (p.Met1316Arg) c.3815T>G (p.Met1272Arg) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436680T= | CA2360293816 | ASXL1 | c.3968T= (p.Met1323=) c.3785T= (p.Met1262=) n.6321T= c.1870-1750T= (n.1870-1750T=) c.3953T= (p.Met1318=) c.3965T= (p.Met1322=) c.3938T= (p.Met1313=) c.3884T= (p.Met1295=) c.3284T= (p.Met1095=) c.4232T= (p.Met1411=) c.4229T= (p.Met1410=) c.4148T= (p.Met1383=) c.4079T= (p.Met1360=) c.3947T= (p.Met1316=) c.3815T= (p.Met1272=) | |
20 | g.32436681G>A | CA408564166 | ASXL1 | c.3969G>A (p.Met1323Ile) c.3786G>A (p.Met1262Ile) n.6322G>A c.1870-1749G>A (n.1870-1749G>A) c.3954G>A (p.Met1318Ile) c.3966G>A (p.Met1322Ile) c.3939G>A (p.Met1313Ile) c.3885G>A (p.Met1295Ile) c.3285G>A (p.Met1095Ile) c.4233G>A (p.Met1411Ile) c.4230G>A (p.Met1410Ile) c.4149G>A (p.Met1383Ile) c.4080G>A (p.Met1360Ile) c.3948G>A (p.Met1316Ile) c.3816G>A (p.Met1272Ile) | dbSNP gnomAD v4 |
20 | g.32436681G>C | CA408564167 | ASXL1 | c.3969G>C (p.Met1323Ile) c.3786G>C (p.Met1262Ile) n.6322G>C c.1870-1749G>C (n.1870-1749G>C) c.3954G>C (p.Met1318Ile) c.3966G>C (p.Met1322Ile) c.3939G>C (p.Met1313Ile) c.3885G>C (p.Met1295Ile) c.3285G>C (p.Met1095Ile) c.4233G>C (p.Met1411Ile) c.4230G>C (p.Met1410Ile) c.4149G>C (p.Met1383Ile) c.4080G>C (p.Met1360Ile) c.3948G>C (p.Met1316Ile) c.3816G>C (p.Met1272Ile) | ClinVar |
20 | g.32436681G>T | CA408564168 | ASXL1 | c.3969G>T (p.Met1323Ile) c.3786G>T (p.Met1262Ile) n.6322G>T c.1870-1749G>T (n.1870-1749G>T) c.3954G>T (p.Met1318Ile) c.3966G>T (p.Met1322Ile) c.3939G>T (p.Met1313Ile) c.3885G>T (p.Met1295Ile) c.3285G>T (p.Met1095Ile) c.4233G>T (p.Met1411Ile) c.4230G>T (p.Met1410Ile) c.4149G>T (p.Met1383Ile) c.4080G>T (p.Met1360Ile) c.3948G>T (p.Met1316Ile) c.3816G>T (p.Met1272Ile) | |
20 | g.32436682C>A | CA408564169 | ASXL1 | c.3970C>A (p.Pro1324Thr) c.3787C>A (p.Pro1263Thr) n.6323C>A c.1870-1748C>A (n.1870-1748C>A) c.3955C>A (p.Pro1319Thr) c.3967C>A (p.Pro1323Thr) c.3940C>A (p.Pro1314Thr) c.3886C>A (p.Pro1296Thr) c.3286C>A (p.Pro1096Thr) c.4234C>A (p.Pro1412Thr) c.4231C>A (p.Pro1411Thr) c.4150C>A (p.Pro1384Thr) c.4081C>A (p.Pro1361Thr) c.3949C>A (p.Pro1317Thr) c.3817C>A (p.Pro1273Thr) | gnomAD v4 |
20 | g.32436682C>G | CA408564170 | ASXL1 | c.3970C>G (p.Pro1324Ala) c.3787C>G (p.Pro1263Ala) n.6323C>G c.1870-1748C>G (n.1870-1748C>G) c.3955C>G (p.Pro1319Ala) c.3967C>G (p.Pro1323Ala) c.3940C>G (p.Pro1314Ala) c.3886C>G (p.Pro1296Ala) c.3286C>G (p.Pro1096Ala) c.4234C>G (p.Pro1412Ala) c.4231C>G (p.Pro1411Ala) c.4150C>G (p.Pro1384Ala) c.4081C>G (p.Pro1361Ala) c.3949C>G (p.Pro1317Ala) c.3817C>G (p.Pro1273Ala) | gnomAD v4 |
20 | g.32436682C>T | CA408564171 | ASXL1 | c.3970C>T (p.Pro1324Ser) c.3787C>T (p.Pro1263Ser) n.6323C>T c.1870-1748C>T (n.1870-1748C>T) c.3955C>T (p.Pro1319Ser) c.3967C>T (p.Pro1323Ser) c.3940C>T (p.Pro1314Ser) c.3886C>T (p.Pro1296Ser) c.3286C>T (p.Pro1096Ser) c.4234C>T (p.Pro1412Ser) c.4231C>T (p.Pro1411Ser) c.4150C>T (p.Pro1384Ser) c.4081C>T (p.Pro1361Ser) c.3949C>T (p.Pro1317Ser) c.3817C>T (p.Pro1273Ser) | dbSNP |
20 | g.32436683C>A | CA408564174 | ASXL1 | c.3971C>A (p.Pro1324His) c.3788C>A (p.Pro1263His) n.6324C>A c.1870-1747C>A (n.1870-1747C>A) c.3956C>A (p.Pro1319His) c.3968C>A (p.Pro1323His) c.3941C>A (p.Pro1314His) c.3887C>A (p.Pro1296His) c.3287C>A (p.Pro1096His) c.4235C>A (p.Pro1412His) c.4232C>A (p.Pro1411His) c.4151C>A (p.Pro1384His) c.4082C>A (p.Pro1361His) c.3950C>A (p.Pro1317His) c.3818C>A (p.Pro1273His) | |
20 | g.32436683C>G | CA408564173 | ASXL1 | c.3971C>G (p.Pro1324Arg) c.3788C>G (p.Pro1263Arg) n.6324C>G c.1870-1747C>G (n.1870-1747C>G) c.3956C>G (p.Pro1319Arg) c.3968C>G (p.Pro1323Arg) c.3941C>G (p.Pro1314Arg) c.3887C>G (p.Pro1296Arg) c.3287C>G (p.Pro1096Arg) c.4235C>G (p.Pro1412Arg) c.4232C>G (p.Pro1411Arg) c.4151C>G (p.Pro1384Arg) c.4082C>G (p.Pro1361Arg) c.3950C>G (p.Pro1317Arg) c.3818C>G (p.Pro1273Arg) | |
20 | g.32436683C>T | CA408564172 | ASXL1 | c.3971C>T (p.Pro1324Leu) c.3788C>T (p.Pro1263Leu) n.6324C>T c.1870-1747C>T (n.1870-1747C>T) c.3956C>T (p.Pro1319Leu) c.3968C>T (p.Pro1323Leu) c.3941C>T (p.Pro1314Leu) c.3887C>T (p.Pro1296Leu) c.3287C>T (p.Pro1096Leu) c.4235C>T (p.Pro1412Leu) c.4232C>T (p.Pro1411Leu) c.4151C>T (p.Pro1384Leu) c.4082C>T (p.Pro1361Leu) c.3950C>T (p.Pro1317Leu) c.3818C>T (p.Pro1273Leu) | gnomAD v4 |
20 | g.32436684T>A | CA510467534 | ASXL1 | c.3972T>A (p.Pro1324=) c.3789T>A (p.Pro1263=) n.6325T>A c.1870-1746T>A (n.1870-1746T>A) c.3957T>A (p.Pro1319=) c.3969T>A (p.Pro1323=) c.3942T>A (p.Pro1314=) c.3888T>A (p.Pro1296=) c.3288T>A (p.Pro1096=) c.4236T>A (p.Pro1412=) c.4233T>A (p.Pro1411=) c.4152T>A (p.Pro1384=) c.4083T>A (p.Pro1361=) c.3951T>A (p.Pro1317=) c.3819T>A (p.Pro1273=) | |
20 | g.32436684T>C | CA9808937 | ASXL1 | c.3972T>C (p.Pro1324=) c.3789T>C (p.Pro1263=) n.6325T>C c.1870-1746T>C (n.1870-1746T>C) c.3957T>C (p.Pro1319=) c.3969T>C (p.Pro1323=) c.3942T>C (p.Pro1314=) c.3888T>C (p.Pro1296=) c.3288T>C (p.Pro1096=) c.4236T>C (p.Pro1412=) c.4233T>C (p.Pro1411=) c.4152T>C (p.Pro1384=) c.4083T>C (p.Pro1361=) c.3951T>C (p.Pro1317=) c.3819T>C (p.Pro1273=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436684T>G | CA510467533 | ASXL1 | c.3972T>G (p.Pro1324=) c.3789T>G (p.Pro1263=) n.6325T>G c.1870-1746T>G (n.1870-1746T>G) c.3957T>G (p.Pro1319=) c.3969T>G (p.Pro1323=) c.3942T>G (p.Pro1314=) c.3888T>G (p.Pro1296=) c.3288T>G (p.Pro1096=) c.4236T>G (p.Pro1412=) c.4233T>G (p.Pro1411=) c.4152T>G (p.Pro1384=) c.4083T>G (p.Pro1361=) c.3951T>G (p.Pro1317=) c.3819T>G (p.Pro1273=) | |
20 | g.32436684T= | CA2360293817 | ASXL1 | c.3972T= (p.Pro1324=) c.3789T= (p.Pro1263=) n.6325T= c.1870-1746T= (n.1870-1746T=) c.3957T= (p.Pro1319=) c.3969T= (p.Pro1323=) c.3942T= (p.Pro1314=) c.3888T= (p.Pro1296=) c.3288T= (p.Pro1096=) c.4236T= (p.Pro1412=) c.4233T= (p.Pro1411=) c.4152T= (p.Pro1384=) c.4083T= (p.Pro1361=) c.3951T= (p.Pro1317=) c.3819T= (p.Pro1273=) | |
20 | g.32436684_32436685delinsCT | CA2573156975 | ASXL1 | c.3972_3973delinsCT (p.Leu1325Phe) c.3789_3790delinsCT (p.Leu1264Phe) n.6325_6326delinsCT c.1870-1746_1870-1745delinsCT (n.1870-1746_1870-1745delinsCT) c.3957_3958delinsCT (p.Leu1320Phe) c.3969_3970delinsCT (p.Leu1324Phe) c.3942_3943delinsCT (p.Leu1315Phe) c.3888_3889delinsCT (p.Leu1297Phe) c.3288_3289delinsCT (p.Leu1097Phe) c.4236_4237delinsCT (p.Leu1413Phe) c.4233_4234delinsCT (p.Leu1412Phe) c.4152_4153delinsCT (p.Leu1385Phe) c.4083_4084delinsCT (p.Leu1362Phe) c.3951_3952delinsCT (p.Leu1318Phe) c.3819_3820delinsCT (p.Leu1274Phe) | ClinVar dbSNP |
20 | g.32436685C>A | CA408564175 | ASXL1 | c.3973C>A (p.Leu1325Ile) c.3790C>A (p.Leu1264Ile) n.6326C>A c.1870-1745C>A (n.1870-1745C>A) c.3958C>A (p.Leu1320Ile) c.3970C>A (p.Leu1324Ile) c.3943C>A (p.Leu1315Ile) c.3889C>A (p.Leu1297Ile) c.3289C>A (p.Leu1097Ile) c.4237C>A (p.Leu1413Ile) c.4234C>A (p.Leu1412Ile) c.4153C>A (p.Leu1385Ile) c.4084C>A (p.Leu1362Ile) c.3952C>A (p.Leu1318Ile) c.3820C>A (p.Leu1274Ile) | |
20 | g.32436685C= | CA2360293818 | ASXL1 | c.3973C= (p.Leu1325=) c.3790C= (p.Leu1264=) n.6326C= c.1870-1745C= (n.1870-1745C=) c.3958C= (p.Leu1320=) c.3970C= (p.Leu1324=) c.3943C= (p.Leu1315=) c.3889C= (p.Leu1297=) c.3289C= (p.Leu1097=) c.4237C= (p.Leu1413=) c.4234C= (p.Leu1412=) c.4153C= (p.Leu1385=) c.4084C= (p.Leu1362=) c.3952C= (p.Leu1318=) c.3820C= (p.Leu1274=) | |
20 | g.32436685C>G | CA408564176 | ASXL1 | c.3973C>G (p.Leu1325Val) c.3790C>G (p.Leu1264Val) n.6326C>G c.1870-1745C>G (n.1870-1745C>G) c.3958C>G (p.Leu1320Val) c.3970C>G (p.Leu1324Val) c.3943C>G (p.Leu1315Val) c.3889C>G (p.Leu1297Val) c.3289C>G (p.Leu1097Val) c.4237C>G (p.Leu1413Val) c.4234C>G (p.Leu1412Val) c.4153C>G (p.Leu1385Val) c.4084C>G (p.Leu1362Val) c.3952C>G (p.Leu1318Val) c.3820C>G (p.Leu1274Val) | |
20 | g.32436685C>T | CA157020 | ASXL1 | c.3973C>T (p.Leu1325Phe) c.3790C>T (p.Leu1264Phe) n.6326C>T c.1870-1745C>T (n.1870-1745C>T) c.3958C>T (p.Leu1320Phe) c.3970C>T (p.Leu1324Phe) c.3943C>T (p.Leu1315Phe) c.3889C>T (p.Leu1297Phe) c.3289C>T (p.Leu1097Phe) c.4237C>T (p.Leu1413Phe) c.4234C>T (p.Leu1412Phe) c.4153C>T (p.Leu1385Phe) c.4084C>T (p.Leu1362Phe) c.3952C>T (p.Leu1318Phe) c.3820C>T (p.Leu1274Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436686T>A | CA408564177 | ASXL1 | c.3974T>A (p.Leu1325His) c.3791T>A (p.Leu1264His) n.6327T>A c.1870-1744T>A (n.1870-1744T>A) c.3959T>A (p.Leu1320His) c.3971T>A (p.Leu1324His) c.3944T>A (p.Leu1315His) c.3890T>A (p.Leu1297His) c.3290T>A (p.Leu1097His) c.4238T>A (p.Leu1413His) c.4235T>A (p.Leu1412His) c.4154T>A (p.Leu1385His) c.4085T>A (p.Leu1362His) c.3953T>A (p.Leu1318His) c.3821T>A (p.Leu1274His) | |
20 | g.32436686T>C | CA408564178 | ASXL1 | c.3974T>C (p.Leu1325Pro) c.3791T>C (p.Leu1264Pro) n.6327T>C c.1870-1744T>C (n.1870-1744T>C) c.3959T>C (p.Leu1320Pro) c.3971T>C (p.Leu1324Pro) c.3944T>C (p.Leu1315Pro) c.3890T>C (p.Leu1297Pro) c.3290T>C (p.Leu1097Pro) c.4238T>C (p.Leu1413Pro) c.4235T>C (p.Leu1412Pro) c.4154T>C (p.Leu1385Pro) c.4085T>C (p.Leu1362Pro) c.3953T>C (p.Leu1318Pro) c.3821T>C (p.Leu1274Pro) | |
20 | g.32436686T>G | CA408564179 | ASXL1 | c.3974T>G (p.Leu1325Arg) c.3791T>G (p.Leu1264Arg) n.6327T>G c.1870-1744T>G (n.1870-1744T>G) c.3959T>G (p.Leu1320Arg) c.3971T>G (p.Leu1324Arg) c.3944T>G (p.Leu1315Arg) c.3890T>G (p.Leu1297Arg) c.3290T>G (p.Leu1097Arg) c.4238T>G (p.Leu1413Arg) c.4235T>G (p.Leu1412Arg) c.4154T>G (p.Leu1385Arg) c.4085T>G (p.Leu1362Arg) c.3953T>G (p.Leu1318Arg) c.3821T>G (p.Leu1274Arg) | |
20 | g.32436687T>A | CA510467535 | ASXL1 | c.3975T>A (p.Leu1325=) c.3792T>A (p.Leu1264=) n.6328T>A c.1870-1743T>A (n.1870-1743T>A) c.3960T>A (p.Leu1320=) c.3972T>A (p.Leu1324=) c.3945T>A (p.Leu1315=) c.3891T>A (p.Leu1297=) c.3291T>A (p.Leu1097=) c.4239T>A (p.Leu1413=) c.4236T>A (p.Leu1412=) c.4155T>A (p.Leu1385=) c.4086T>A (p.Leu1362=) c.3954T>A (p.Leu1318=) c.3822T>A (p.Leu1274=) | |
20 | g.32436687T>C | CA510467536 | ASXL1 | c.3975T>C (p.Leu1325=) c.3792T>C (p.Leu1264=) n.6328T>C c.1870-1743T>C (n.1870-1743T>C) c.3960T>C (p.Leu1320=) c.3972T>C (p.Leu1324=) c.3945T>C (p.Leu1315=) c.3891T>C (p.Leu1297=) c.3291T>C (p.Leu1097=) c.4239T>C (p.Leu1413=) c.4236T>C (p.Leu1412=) c.4155T>C (p.Leu1385=) c.4086T>C (p.Leu1362=) c.3954T>C (p.Leu1318=) c.3822T>C (p.Leu1274=) | gnomAD v4 |
20 | g.32436687T>G | CA510467537 | ASXL1 | c.3975T>G (p.Leu1325=) c.3792T>G (p.Leu1264=) n.6328T>G c.1870-1743T>G (n.1870-1743T>G) c.3960T>G (p.Leu1320=) c.3972T>G (p.Leu1324=) c.3945T>G (p.Leu1315=) c.3891T>G (p.Leu1297=) c.3291T>G (p.Leu1097=) c.4239T>G (p.Leu1413=) c.4236T>G (p.Leu1412=) c.4155T>G (p.Leu1385=) c.4086T>G (p.Leu1362=) c.3954T>G (p.Leu1318=) c.3822T>G (p.Leu1274=) | |
20 | g.32436688C>A | CA408564180 | ASXL1 | c.3976C>A (p.Pro1326Thr) c.3793C>A (p.Pro1265Thr) n.6329C>A c.1870-1742C>A (n.1870-1742C>A) c.3961C>A (p.Pro1321Thr) c.3973C>A (p.Pro1325Thr) c.3946C>A (p.Pro1316Thr) c.3892C>A (p.Pro1298Thr) c.3292C>A (p.Pro1098Thr) c.4240C>A (p.Pro1414Thr) c.4237C>A (p.Pro1413Thr) c.4156C>A (p.Pro1386Thr) c.4087C>A (p.Pro1363Thr) c.3955C>A (p.Pro1319Thr) c.3823C>A (p.Pro1275Thr) | |
20 | g.32436688C>G | CA408564181 | ASXL1 | c.3976C>G (p.Pro1326Ala) c.3793C>G (p.Pro1265Ala) n.6329C>G c.1870-1742C>G (n.1870-1742C>G) c.3961C>G (p.Pro1321Ala) c.3973C>G (p.Pro1325Ala) c.3946C>G (p.Pro1316Ala) c.3892C>G (p.Pro1298Ala) c.3292C>G (p.Pro1098Ala) c.4240C>G (p.Pro1414Ala) c.4237C>G (p.Pro1413Ala) c.4156C>G (p.Pro1386Ala) c.4087C>G (p.Pro1363Ala) c.3955C>G (p.Pro1319Ala) c.3823C>G (p.Pro1275Ala) | |
20 | g.32436688C>T | CA408564182 | ASXL1 | c.3976C>T (p.Pro1326Ser) c.3793C>T (p.Pro1265Ser) n.6329C>T c.1870-1742C>T (n.1870-1742C>T) c.3961C>T (p.Pro1321Ser) c.3973C>T (p.Pro1325Ser) c.3946C>T (p.Pro1316Ser) c.3892C>T (p.Pro1298Ser) c.3292C>T (p.Pro1098Ser) c.4240C>T (p.Pro1414Ser) c.4237C>T (p.Pro1413Ser) c.4156C>T (p.Pro1386Ser) c.4087C>T (p.Pro1363Ser) c.3955C>T (p.Pro1319Ser) c.3823C>T (p.Pro1275Ser) | |
20 | g.32436689C>A | CA408564183 | ASXL1 | c.3977C>A (p.Pro1326His) c.3794C>A (p.Pro1265His) n.6330C>A c.1870-1741C>A (n.1870-1741C>A) c.3962C>A (p.Pro1321His) c.3974C>A (p.Pro1325His) c.3947C>A (p.Pro1316His) c.3893C>A (p.Pro1298His) c.3293C>A (p.Pro1098His) c.4241C>A (p.Pro1414His) c.4238C>A (p.Pro1413His) c.4157C>A (p.Pro1386His) c.4088C>A (p.Pro1363His) c.3956C>A (p.Pro1319His) c.3824C>A (p.Pro1275His) | |
20 | g.32436689C= | CA2360293819 | ASXL1 | c.3977C= (p.Pro1326=) c.3794C= (p.Pro1265=) n.6330C= c.1870-1741C= (n.1870-1741C=) c.3962C= (p.Pro1321=) c.3974C= (p.Pro1325=) c.3947C= (p.Pro1316=) c.3893C= (p.Pro1298=) c.3293C= (p.Pro1098=) c.4241C= (p.Pro1414=) c.4238C= (p.Pro1413=) c.4157C= (p.Pro1386=) c.4088C= (p.Pro1363=) c.3956C= (p.Pro1319=) c.3824C= (p.Pro1275=) | |
20 | g.32436689C>G | CA9808938 | ASXL1 | c.3977C>G (p.Pro1326Arg) c.3794C>G (p.Pro1265Arg) n.6330C>G c.1870-1741C>G (n.1870-1741C>G) c.3962C>G (p.Pro1321Arg) c.3974C>G (p.Pro1325Arg) c.3947C>G (p.Pro1316Arg) c.3893C>G (p.Pro1298Arg) c.3293C>G (p.Pro1098Arg) c.4241C>G (p.Pro1414Arg) c.4238C>G (p.Pro1413Arg) c.4157C>G (p.Pro1386Arg) c.4088C>G (p.Pro1363Arg) c.3956C>G (p.Pro1319Arg) c.3824C>G (p.Pro1275Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436689C>T | CA9808939 | ASXL1 | c.3977C>T (p.Pro1326Leu) c.3794C>T (p.Pro1265Leu) n.6330C>T c.1870-1741C>T (n.1870-1741C>T) c.3962C>T (p.Pro1321Leu) c.3974C>T (p.Pro1325Leu) c.3947C>T (p.Pro1316Leu) c.3893C>T (p.Pro1298Leu) c.3293C>T (p.Pro1098Leu) c.4241C>T (p.Pro1414Leu) c.4238C>T (p.Pro1413Leu) c.4157C>T (p.Pro1386Leu) c.4088C>T (p.Pro1363Leu) c.3956C>T (p.Pro1319Leu) c.3824C>T (p.Pro1275Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436690T>A | CA510467538 | ASXL1 | c.3978T>A (p.Pro1326=) c.3795T>A (p.Pro1265=) n.6331T>A c.1870-1740T>A (n.1870-1740T>A) c.3963T>A (p.Pro1321=) c.3975T>A (p.Pro1325=) c.3948T>A (p.Pro1316=) c.3894T>A (p.Pro1298=) c.3294T>A (p.Pro1098=) c.4242T>A (p.Pro1414=) c.4239T>A (p.Pro1413=) c.4158T>A (p.Pro1386=) c.4089T>A (p.Pro1363=) c.3957T>A (p.Pro1319=) c.3825T>A (p.Pro1275=) | |
20 | g.32436690T>C | CA510467539 | ASXL1 | c.3978T>C (p.Pro1326=) c.3795T>C (p.Pro1265=) n.6331T>C c.1870-1740T>C (n.1870-1740T>C) c.3963T>C (p.Pro1321=) c.3975T>C (p.Pro1325=) c.3948T>C (p.Pro1316=) c.3894T>C (p.Pro1298=) c.3294T>C (p.Pro1098=) c.4242T>C (p.Pro1414=) c.4239T>C (p.Pro1413=) c.4158T>C (p.Pro1386=) c.4089T>C (p.Pro1363=) c.3957T>C (p.Pro1319=) c.3825T>C (p.Pro1275=) | ClinVar |
20 | g.32436690T>G | CA510467540 | ASXL1 | c.3978T>G (p.Pro1326=) c.3795T>G (p.Pro1265=) n.6331T>G c.1870-1740T>G (n.1870-1740T>G) c.3963T>G (p.Pro1321=) c.3975T>G (p.Pro1325=) c.3948T>G (p.Pro1316=) c.3894T>G (p.Pro1298=) c.3294T>G (p.Pro1098=) c.4242T>G (p.Pro1414=) c.4239T>G (p.Pro1413=) c.4158T>G (p.Pro1386=) c.4089T>G (p.Pro1363=) c.3957T>G (p.Pro1319=) c.3825T>G (p.Pro1275=) | |
20 | g.32436691G>A | CA408564185 | ASXL1 | c.3979G>A (p.Ala1327Thr) c.3796G>A (p.Ala1266Thr) n.6332G>A c.1870-1739G>A (n.1870-1739G>A) c.3964G>A (p.Ala1322Thr) c.3976G>A (p.Ala1326Thr) c.3949G>A (p.Ala1317Thr) c.3895G>A (p.Ala1299Thr) c.3295G>A (p.Ala1099Thr) c.4243G>A (p.Ala1415Thr) c.4240G>A (p.Ala1414Thr) c.4159G>A (p.Ala1387Thr) c.4090G>A (p.Ala1364Thr) c.3958G>A (p.Ala1320Thr) c.3826G>A (p.Ala1276Thr) | dbSNP |
20 | g.32436691G>C | CA408564186 | ASXL1 | c.3979G>C (p.Ala1327Pro) c.3796G>C (p.Ala1266Pro) n.6332G>C c.1870-1739G>C (n.1870-1739G>C) c.3964G>C (p.Ala1322Pro) c.3976G>C (p.Ala1326Pro) c.3949G>C (p.Ala1317Pro) c.3895G>C (p.Ala1299Pro) c.3295G>C (p.Ala1099Pro) c.4243G>C (p.Ala1415Pro) c.4240G>C (p.Ala1414Pro) c.4159G>C (p.Ala1387Pro) c.4090G>C (p.Ala1364Pro) c.3958G>C (p.Ala1320Pro) c.3826G>C (p.Ala1276Pro) | dbSNP |
20 | g.32436691G>T | CA408564184 | ASXL1 | c.3979G>T (p.Ala1327Ser) c.3796G>T (p.Ala1266Ser) n.6332G>T c.1870-1739G>T (n.1870-1739G>T) c.3964G>T (p.Ala1322Ser) c.3976G>T (p.Ala1326Ser) c.3949G>T (p.Ala1317Ser) c.3895G>T (p.Ala1299Ser) c.3295G>T (p.Ala1099Ser) c.4243G>T (p.Ala1415Ser) c.4240G>T (p.Ala1414Ser) c.4159G>T (p.Ala1387Ser) c.4090G>T (p.Ala1364Ser) c.3958G>T (p.Ala1320Ser) c.3826G>T (p.Ala1276Ser) | |
20 | g.32436692C>A | CA408564188 | ASXL1 | c.3980C>A (p.Ala1327Asp) c.3797C>A (p.Ala1266Asp) n.6333C>A c.1870-1738C>A (n.1870-1738C>A) c.3965C>A (p.Ala1322Asp) c.3977C>A (p.Ala1326Asp) c.3950C>A (p.Ala1317Asp) c.3896C>A (p.Ala1299Asp) c.3296C>A (p.Ala1099Asp) c.4244C>A (p.Ala1415Asp) c.4241C>A (p.Ala1414Asp) c.4160C>A (p.Ala1387Asp) c.4091C>A (p.Ala1364Asp) c.3959C>A (p.Ala1320Asp) c.3827C>A (p.Ala1276Asp) | dbSNP |
20 | g.32436692C= | CA2360293820 | ASXL1 | c.3980C= (p.Ala1327=) c.3797C= (p.Ala1266=) n.6333C= c.1870-1738C= (n.1870-1738C=) c.3965C= (p.Ala1322=) c.3977C= (p.Ala1326=) c.3950C= (p.Ala1317=) c.3896C= (p.Ala1299=) c.3296C= (p.Ala1099=) c.4244C= (p.Ala1415=) c.4241C= (p.Ala1414=) c.4160C= (p.Ala1387=) c.4091C= (p.Ala1364=) c.3959C= (p.Ala1320=) c.3827C= (p.Ala1276=) | |
20 | g.32436692C>G | CA408564187 | ASXL1 | c.3980C>G (p.Ala1327Gly) c.3797C>G (p.Ala1266Gly) n.6333C>G c.1870-1738C>G (n.1870-1738C>G) c.3965C>G (p.Ala1322Gly) c.3977C>G (p.Ala1326Gly) c.3950C>G (p.Ala1317Gly) c.3896C>G (p.Ala1299Gly) c.3296C>G (p.Ala1099Gly) c.4244C>G (p.Ala1415Gly) c.4241C>G (p.Ala1414Gly) c.4160C>G (p.Ala1387Gly) c.4091C>G (p.Ala1364Gly) c.3959C>G (p.Ala1320Gly) c.3827C>G (p.Ala1276Gly) | |
20 | g.32436692C>T | CA408564189 | ASXL1 | c.3980C>T (p.Ala1327Val) c.3797C>T (p.Ala1266Val) n.6333C>T c.1870-1738C>T (n.1870-1738C>T) c.3965C>T (p.Ala1322Val) c.3977C>T (p.Ala1326Val) c.3950C>T (p.Ala1317Val) c.3896C>T (p.Ala1299Val) c.3296C>T (p.Ala1099Val) c.4244C>T (p.Ala1415Val) c.4241C>T (p.Ala1414Val) c.4160C>T (p.Ala1387Val) c.4091C>T (p.Ala1364Val) c.3959C>T (p.Ala1320Val) c.3827C>T (p.Ala1276Val) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436693T>A | CA510467543 | ASXL1 | c.3981T>A (p.Ala1327=) c.3798T>A (p.Ala1266=) n.6334T>A c.1870-1737T>A (n.1870-1737T>A) c.3966T>A (p.Ala1322=) c.3978T>A (p.Ala1326=) c.3951T>A (p.Ala1317=) c.3897T>A (p.Ala1299=) c.3297T>A (p.Ala1099=) c.4245T>A (p.Ala1415=) c.4242T>A (p.Ala1414=) c.4161T>A (p.Ala1387=) c.4092T>A (p.Ala1364=) c.3960T>A (p.Ala1320=) c.3828T>A (p.Ala1276=) | |
20 | g.32436693T>C | CA510467544 | ASXL1 | c.3981T>C (p.Ala1327=) c.3798T>C (p.Ala1266=) n.6334T>C c.1870-1737T>C (n.1870-1737T>C) c.3966T>C (p.Ala1322=) c.3978T>C (p.Ala1326=) c.3951T>C (p.Ala1317=) c.3897T>C (p.Ala1299=) c.3297T>C (p.Ala1099=) c.4245T>C (p.Ala1415=) c.4242T>C (p.Ala1414=) c.4161T>C (p.Ala1387=) c.4092T>C (p.Ala1364=) c.3960T>C (p.Ala1320=) c.3828T>C (p.Ala1276=) | gnomAD v4 |
20 | g.32436693T>G | CA9808940 | ASXL1 | c.3981T>G (p.Ala1327=) c.3798T>G (p.Ala1266=) n.6334T>G c.1870-1737T>G (n.1870-1737T>G) c.3966T>G (p.Ala1322=) c.3978T>G (p.Ala1326=) c.3951T>G (p.Ala1317=) c.3897T>G (p.Ala1299=) c.3297T>G (p.Ala1099=) c.4245T>G (p.Ala1415=) c.4242T>G (p.Ala1414=) c.4161T>G (p.Ala1387=) c.4092T>G (p.Ala1364=) c.3960T>G (p.Ala1320=) c.3828T>G (p.Ala1276=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436693T= | CA2360293821 | ASXL1 | c.3981T= (p.Ala1327=) c.3798T= (p.Ala1266=) n.6334T= c.1870-1737T= (n.1870-1737T=) c.3966T= (p.Ala1322=) c.3978T= (p.Ala1326=) c.3951T= (p.Ala1317=) c.3897T= (p.Ala1299=) c.3297T= (p.Ala1099=) c.4245T= (p.Ala1415=) c.4242T= (p.Ala1414=) c.4161T= (p.Ala1387=) c.4092T= (p.Ala1364=) c.3960T= (p.Ala1320=) c.3828T= (p.Ala1276=) | |
20 | g.32436694G>A | CA408564190 | ASXL1 | c.3982G>A (p.Glu1328Lys) c.3799G>A (p.Glu1267Lys) n.6335G>A c.1870-1736G>A (n.1870-1736G>A) c.3967G>A (p.Glu1323Lys) c.3979G>A (p.Glu1327Lys) c.3952G>A (p.Glu1318Lys) c.3898G>A (p.Glu1300Lys) c.3298G>A (p.Glu1100Lys) c.4246G>A (p.Glu1416Lys) c.4243G>A (p.Glu1415Lys) c.4162G>A (p.Glu1388Lys) c.4093G>A (p.Glu1365Lys) c.3961G>A (p.Glu1321Lys) c.3829G>A (p.Glu1277Lys) | |
20 | g.32436694G>C | CA408564191 | ASXL1 | c.3982G>C (p.Glu1328Gln) c.3799G>C (p.Glu1267Gln) n.6335G>C c.1870-1736G>C (n.1870-1736G>C) c.3967G>C (p.Glu1323Gln) c.3979G>C (p.Glu1327Gln) c.3952G>C (p.Glu1318Gln) c.3898G>C (p.Glu1300Gln) c.3298G>C (p.Glu1100Gln) c.4246G>C (p.Glu1416Gln) c.4243G>C (p.Glu1415Gln) c.4162G>C (p.Glu1388Gln) c.4093G>C (p.Glu1365Gln) c.3961G>C (p.Glu1321Gln) c.3829G>C (p.Glu1277Gln) | |
20 | g.32436694G>T | CA408564192 | ASXL1 | c.3982G>T (p.Glu1328Ter) c.3799G>T (p.Glu1267Ter) n.6335G>T c.1870-1736G>T (n.1870-1736G>T) c.3967G>T (p.Glu1323Ter) c.3979G>T (p.Glu1327Ter) c.3952G>T (p.Glu1318Ter) c.3898G>T (p.Glu1300Ter) c.3298G>T (p.Glu1100Ter) c.4246G>T (p.Glu1416Ter) c.4243G>T (p.Glu1415Ter) c.4162G>T (p.Glu1388Ter) c.4093G>T (p.Glu1365Ter) c.3961G>T (p.Glu1321Ter) c.3829G>T (p.Glu1277Ter) | |
20 | g.32436695A>C | CA408564193 | ASXL1 | c.3983A>C (p.Glu1328Ala) c.3800A>C (p.Glu1267Ala) n.6336A>C c.1870-1735A>C (n.1870-1735A>C) c.3968A>C (p.Glu1323Ala) c.3980A>C (p.Glu1327Ala) c.3953A>C (p.Glu1318Ala) c.3899A>C (p.Glu1300Ala) c.3299A>C (p.Glu1100Ala) c.4247A>C (p.Glu1416Ala) c.4244A>C (p.Glu1415Ala) c.4163A>C (p.Glu1388Ala) c.4094A>C (p.Glu1365Ala) c.3962A>C (p.Glu1321Ala) c.3830A>C (p.Glu1277Ala) | |
20 | g.32436695A>G | CA408564194 | ASXL1 | c.3983A>G (p.Glu1328Gly) c.3800A>G (p.Glu1267Gly) n.6336A>G c.1870-1735A>G (n.1870-1735A>G) c.3968A>G (p.Glu1323Gly) c.3980A>G (p.Glu1327Gly) c.3953A>G (p.Glu1318Gly) c.3899A>G (p.Glu1300Gly) c.3299A>G (p.Glu1100Gly) c.4247A>G (p.Glu1416Gly) c.4244A>G (p.Glu1415Gly) c.4163A>G (p.Glu1388Gly) c.4094A>G (p.Glu1365Gly) c.3962A>G (p.Glu1321Gly) c.3830A>G (p.Glu1277Gly) | dbSNP |
20 | g.32436695A>T | CA408564195 | ASXL1 | c.3983A>T (p.Glu1328Val) c.3800A>T (p.Glu1267Val) n.6336A>T c.1870-1735A>T (n.1870-1735A>T) c.3968A>T (p.Glu1323Val) c.3980A>T (p.Glu1327Val) c.3953A>T (p.Glu1318Val) c.3899A>T (p.Glu1300Val) c.3299A>T (p.Glu1100Val) c.4247A>T (p.Glu1416Val) c.4244A>T (p.Glu1415Val) c.4163A>T (p.Glu1388Val) c.4094A>T (p.Glu1365Val) c.3962A>T (p.Glu1321Val) c.3830A>T (p.Glu1277Val) | dbSNP |
20 | g.32436696G>A | CA510467548 | ASXL1 | c.3984G>A (p.Glu1328=) c.3801G>A (p.Glu1267=) n.6337G>A c.1870-1734G>A (n.1870-1734G>A) c.3969G>A (p.Glu1323=) c.3981G>A (p.Glu1327=) c.3954G>A (p.Glu1318=) c.3900G>A (p.Glu1300=) c.3300G>A (p.Glu1100=) c.4248G>A (p.Glu1416=) c.4245G>A (p.Glu1415=) c.4164G>A (p.Glu1388=) c.4095G>A (p.Glu1365=) c.3963G>A (p.Glu1321=) c.3831G>A (p.Glu1277=) | gnomAD v2 |
20 | g.32436696G>C | CA408564196 | ASXL1 | c.3984G>C (p.Glu1328Asp) c.3801G>C (p.Glu1267Asp) n.6337G>C c.1870-1734G>C (n.1870-1734G>C) c.3969G>C (p.Glu1323Asp) c.3981G>C (p.Glu1327Asp) c.3954G>C (p.Glu1318Asp) c.3900G>C (p.Glu1300Asp) c.3300G>C (p.Glu1100Asp) c.4248G>C (p.Glu1416Asp) c.4245G>C (p.Glu1415Asp) c.4164G>C (p.Glu1388Asp) c.4095G>C (p.Glu1365Asp) c.3963G>C (p.Glu1321Asp) c.3831G>C (p.Glu1277Asp) | |
20 | g.32436696G>T | CA408564197 | ASXL1 | c.3984G>T (p.Glu1328Asp) c.3801G>T (p.Glu1267Asp) n.6337G>T c.1870-1734G>T (n.1870-1734G>T) c.3969G>T (p.Glu1323Asp) c.3981G>T (p.Glu1327Asp) c.3954G>T (p.Glu1318Asp) c.3900G>T (p.Glu1300Asp) c.3300G>T (p.Glu1100Asp) c.4248G>T (p.Glu1416Asp) c.4245G>T (p.Glu1415Asp) c.4164G>T (p.Glu1388Asp) c.4095G>T (p.Glu1365Asp) c.3963G>T (p.Glu1321Asp) c.3831G>T (p.Glu1277Asp) | |
20 | g.32436696_32436697delinsGA | CA2360293822 | ASXL1 | c.3984_3985delinsGA (p.Glu1328=) c.3801_3802delinsGA (p.Glu1267=) n.6337_6338delinsGA c.1870-1734_1870-1733delinsGA (n.1870-1734_1870-1733delinsGA) c.3969_3970delinsGA (p.Glu1323=) c.3981_3982delinsGA (p.Glu1327=) c.3954_3955delinsGA (p.Glu1318=) c.3900_3901delinsGA (p.Glu1300=) c.3300_3301delinsGA (p.Glu1100=) c.4248_4249delinsGA (p.Glu1416=) c.4245_4246delinsGA (p.Glu1415=) c.4164_4165delinsGA (p.Glu1388=) c.4095_4096delinsGA (p.Glu1365=) c.3963_3964delinsGA (p.Glu1321=) c.3831_3832delinsGA (p.Glu1277=) | |
20 | g.32436697del | CA9808941 | ASXL1 | c.3985del (p.Ile1329SerfsTer?) c.3802del (p.Ile1268SerfsTer?) n.6338del c.1870-1733del (n.1870-1733del) c.3970del (p.Ile1324SerfsTer?) c.3982del (p.Ile1328SerfsTer?) c.3955del (p.Ile1319SerfsTer?) c.3901del (p.Ile1301SerfsTer?) c.3301del (p.Ile1101SerfsTer?) c.4249del (p.Ile1417SerfsTer?) c.4246del (p.Ile1416SerfsTer?) c.4165del (p.Ile1389SerfsTer?) c.4096del (p.Ile1366SerfsTer?) c.3964del (p.Ile1322SerfsTer?) c.3832del (p.Ile1278SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436697A= | CA2360293823 | ASXL1 | c.3985A= (p.Ile1329=) c.3802A= (p.Ile1268=) n.6338A= c.1870-1733A= (n.1870-1733A=) c.3970A= (p.Ile1324=) c.3982A= (p.Ile1328=) c.3955A= (p.Ile1319=) c.3901A= (p.Ile1301=) c.3301A= (p.Ile1101=) c.4249A= (p.Ile1417=) c.4246A= (p.Ile1416=) c.4165A= (p.Ile1389=) c.4096A= (p.Ile1366=) c.3964A= (p.Ile1322=) c.3832A= (p.Ile1278=) | |
20 | g.32436697A>C | CA408564198 | ASXL1 | c.3985A>C (p.Ile1329Leu) c.3802A>C (p.Ile1268Leu) n.6338A>C c.1870-1733A>C (n.1870-1733A>C) c.3970A>C (p.Ile1324Leu) c.3982A>C (p.Ile1328Leu) c.3955A>C (p.Ile1319Leu) c.3901A>C (p.Ile1301Leu) c.3301A>C (p.Ile1101Leu) c.4249A>C (p.Ile1417Leu) c.4246A>C (p.Ile1416Leu) c.4165A>C (p.Ile1389Leu) c.4096A>C (p.Ile1366Leu) c.3964A>C (p.Ile1322Leu) c.3832A>C (p.Ile1278Leu) | |
20 | g.32436697A>G | CA408564199 | ASXL1 | c.3985A>G (p.Ile1329Val) c.3802A>G (p.Ile1268Val) n.6338A>G c.1870-1733A>G (n.1870-1733A>G) c.3970A>G (p.Ile1324Val) c.3982A>G (p.Ile1328Val) c.3955A>G (p.Ile1319Val) c.3901A>G (p.Ile1301Val) c.3301A>G (p.Ile1101Val) c.4249A>G (p.Ile1417Val) c.4246A>G (p.Ile1416Val) c.4165A>G (p.Ile1389Val) c.4096A>G (p.Ile1366Val) c.3964A>G (p.Ile1322Val) c.3832A>G (p.Ile1278Val) | |
20 | g.32436697A>T | CA408564200 | ASXL1 | c.3985A>T (p.Ile1329Phe) c.3802A>T (p.Ile1268Phe) n.6338A>T c.1870-1733A>T (n.1870-1733A>T) c.3970A>T (p.Ile1324Phe) c.3982A>T (p.Ile1328Phe) c.3955A>T (p.Ile1319Phe) c.3901A>T (p.Ile1301Phe) c.3301A>T (p.Ile1101Phe) c.4249A>T (p.Ile1417Phe) c.4246A>T (p.Ile1416Phe) c.4165A>T (p.Ile1389Phe) c.4096A>T (p.Ile1366Phe) c.3964A>T (p.Ile1322Phe) c.3832A>T (p.Ile1278Phe) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436698T>A | CA408564201 | ASXL1 | c.3986T>A (p.Ile1329Asn) c.3803T>A (p.Ile1268Asn) n.6339T>A c.1870-1732T>A (n.1870-1732T>A) c.3971T>A (p.Ile1324Asn) c.3983T>A (p.Ile1328Asn) c.3956T>A (p.Ile1319Asn) c.3902T>A (p.Ile1301Asn) c.3302T>A (p.Ile1101Asn) c.4250T>A (p.Ile1417Asn) c.4247T>A (p.Ile1416Asn) c.4166T>A (p.Ile1389Asn) c.4097T>A (p.Ile1366Asn) c.3965T>A (p.Ile1322Asn) c.3833T>A (p.Ile1278Asn) | |
20 | g.32436698T>C | CA408564202 | ASXL1 | c.3986T>C (p.Ile1329Thr) c.3803T>C (p.Ile1268Thr) n.6339T>C c.1870-1732T>C (n.1870-1732T>C) c.3971T>C (p.Ile1324Thr) c.3983T>C (p.Ile1328Thr) c.3956T>C (p.Ile1319Thr) c.3902T>C (p.Ile1301Thr) c.3302T>C (p.Ile1101Thr) c.4250T>C (p.Ile1417Thr) c.4247T>C (p.Ile1416Thr) c.4166T>C (p.Ile1389Thr) c.4097T>C (p.Ile1366Thr) c.3965T>C (p.Ile1322Thr) c.3833T>C (p.Ile1278Thr) | |
20 | g.32436698T>G | CA408564203 | ASXL1 | c.3986T>G (p.Ile1329Ser) c.3803T>G (p.Ile1268Ser) n.6339T>G c.1870-1732T>G (n.1870-1732T>G) c.3971T>G (p.Ile1324Ser) c.3983T>G (p.Ile1328Ser) c.3956T>G (p.Ile1319Ser) c.3902T>G (p.Ile1301Ser) c.3302T>G (p.Ile1101Ser) c.4250T>G (p.Ile1417Ser) c.4247T>G (p.Ile1416Ser) c.4166T>G (p.Ile1389Ser) c.4097T>G (p.Ile1366Ser) c.3965T>G (p.Ile1322Ser) c.3833T>G (p.Ile1278Ser) | |
20 | g.32436699C>A | CA510467550 | ASXL1 | c.3987C>A (p.Ile1329=) c.3804C>A (p.Ile1268=) n.6340C>A c.1870-1731C>A (n.1870-1731C>A) c.3972C>A (p.Ile1324=) c.3984C>A (p.Ile1328=) c.3957C>A (p.Ile1319=) c.3903C>A (p.Ile1301=) c.3303C>A (p.Ile1101=) c.4251C>A (p.Ile1417=) c.4248C>A (p.Ile1416=) c.4167C>A (p.Ile1389=) c.4098C>A (p.Ile1366=) c.3966C>A (p.Ile1322=) c.3834C>A (p.Ile1278=) | |
20 | g.32436699C= | CA2360293824 | ASXL1 | c.3987C= (p.Ile1329=) c.3804C= (p.Ile1268=) n.6340C= c.1870-1731C= (n.1870-1731C=) c.3972C= (p.Ile1324=) c.3984C= (p.Ile1328=) c.3957C= (p.Ile1319=) c.3903C= (p.Ile1301=) c.3303C= (p.Ile1101=) c.4251C= (p.Ile1417=) c.4248C= (p.Ile1416=) c.4167C= (p.Ile1389=) c.4098C= (p.Ile1366=) c.3966C= (p.Ile1322=) c.3834C= (p.Ile1278=) | |
20 | g.32436699C>G | CA313926370 | ASXL1 | c.3987C>G (p.Ile1329Met) c.3804C>G (p.Ile1268Met) n.6340C>G c.1870-1731C>G (n.1870-1731C>G) c.3972C>G (p.Ile1324Met) c.3984C>G (p.Ile1328Met) c.3957C>G (p.Ile1319Met) c.3903C>G (p.Ile1301Met) c.3303C>G (p.Ile1101Met) c.4251C>G (p.Ile1417Met) c.4248C>G (p.Ile1416Met) c.4167C>G (p.Ile1389Met) c.4098C>G (p.Ile1366Met) c.3966C>G (p.Ile1322Met) c.3834C>G (p.Ile1278Met) | dbSNP gnomAD v4 |
20 | g.32436699C>T | CA510467551 | ASXL1 | c.3987C>T (p.Ile1329=) c.3804C>T (p.Ile1268=) n.6340C>T c.1870-1731C>T (n.1870-1731C>T) c.3972C>T (p.Ile1324=) c.3984C>T (p.Ile1328=) c.3957C>T (p.Ile1319=) c.3903C>T (p.Ile1301=) c.3303C>T (p.Ile1101=) c.4251C>T (p.Ile1417=) c.4248C>T (p.Ile1416=) c.4167C>T (p.Ile1389=) c.4098C>T (p.Ile1366=) c.3966C>T (p.Ile1322=) c.3834C>T (p.Ile1278=) | |
20 | g.32436699_32436700insA | CA9808942 | ASXL1 | c.3987_3988insA (p.Pro1330ThrfsTer?) c.3804_3805insA (p.Pro1269ThrfsTer?) n.6340_6341insA c.1870-1731_1870-1730insA (n.1870-1731_1870-1730insA) c.3972_3973insA (p.Pro1325ThrfsTer?) c.3984_3985insA (p.Pro1329ThrfsTer?) c.3957_3958insA (p.Pro1320ThrfsTer?) c.3903_3904insA (p.Pro1302ThrfsTer?) c.3303_3304insA (p.Pro1102ThrfsTer?) c.4251_4252insA (p.Pro1418ThrfsTer?) c.4248_4249insA (p.Pro1417ThrfsTer?) c.4167_4168insA (p.Pro1390ThrfsTer?) c.4098_4099insA (p.Pro1367ThrfsTer?) c.3966_3967insA (p.Pro1323ThrfsTer?) c.3834_3835insA (p.Pro1279ThrfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436700C>A | CA408564204 | ASXL1 | c.3988C>A (p.Pro1330Thr) c.3805C>A (p.Pro1269Thr) n.6341C>A c.1870-1730C>A (n.1870-1730C>A) c.3973C>A (p.Pro1325Thr) c.3985C>A (p.Pro1329Thr) c.3958C>A (p.Pro1320Thr) c.3904C>A (p.Pro1302Thr) c.3304C>A (p.Pro1102Thr) c.4252C>A (p.Pro1418Thr) c.4249C>A (p.Pro1417Thr) c.4168C>A (p.Pro1390Thr) c.4099C>A (p.Pro1367Thr) c.3967C>A (p.Pro1323Thr) c.3835C>A (p.Pro1279Thr) | |
20 | g.32436700C= | CA2360293825 | ASXL1 | c.3988C= (p.Pro1330=) c.3805C= (p.Pro1269=) n.6341C= c.1870-1730C= (n.1870-1730C=) c.3973C= (p.Pro1325=) c.3985C= (p.Pro1329=) c.3958C= (p.Pro1320=) c.3904C= (p.Pro1302=) c.3304C= (p.Pro1102=) c.4252C= (p.Pro1418=) c.4249C= (p.Pro1417=) c.4168C= (p.Pro1390=) c.4099C= (p.Pro1367=) c.3967C= (p.Pro1323=) c.3835C= (p.Pro1279=) | |
20 | g.32436700C>G | CA408564205 | ASXL1 | c.3988C>G (p.Pro1330Ala) c.3805C>G (p.Pro1269Ala) n.6341C>G c.1870-1730C>G (n.1870-1730C>G) c.3973C>G (p.Pro1325Ala) c.3985C>G (p.Pro1329Ala) c.3958C>G (p.Pro1320Ala) c.3904C>G (p.Pro1302Ala) c.3304C>G (p.Pro1102Ala) c.4252C>G (p.Pro1418Ala) c.4249C>G (p.Pro1417Ala) c.4168C>G (p.Pro1390Ala) c.4099C>G (p.Pro1367Ala) c.3967C>G (p.Pro1323Ala) c.3835C>G (p.Pro1279Ala) | |
20 | g.32436700C>T | CA408564206 | ASXL1 | c.3988C>T (p.Pro1330Ser) c.3805C>T (p.Pro1269Ser) n.6341C>T c.1870-1730C>T (n.1870-1730C>T) c.3973C>T (p.Pro1325Ser) c.3985C>T (p.Pro1329Ser) c.3958C>T (p.Pro1320Ser) c.3904C>T (p.Pro1302Ser) c.3304C>T (p.Pro1102Ser) c.4252C>T (p.Pro1418Ser) c.4249C>T (p.Pro1417Ser) c.4168C>T (p.Pro1390Ser) c.4099C>T (p.Pro1367Ser) c.3967C>T (p.Pro1323Ser) c.3835C>T (p.Pro1279Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.32436701C>A | CA408564207 | ASXL1 | c.3989C>A (p.Pro1330His) c.3806C>A (p.Pro1269His) n.6342C>A c.1870-1729C>A (n.1870-1729C>A) c.3974C>A (p.Pro1325His) c.3986C>A (p.Pro1329His) c.3959C>A (p.Pro1320His) c.3905C>A (p.Pro1302His) c.3305C>A (p.Pro1102His) c.4253C>A (p.Pro1418His) c.4250C>A (p.Pro1417His) c.4169C>A (p.Pro1390His) c.4100C>A (p.Pro1367His) c.3968C>A (p.Pro1323His) c.3836C>A (p.Pro1279His) | |
20 | g.32436701C= | CA2360293826 | ASXL1 | c.3989C= (p.Pro1330=) c.3806C= (p.Pro1269=) n.6342C= c.1870-1729C= (n.1870-1729C=) c.3974C= (p.Pro1325=) c.3986C= (p.Pro1329=) c.3959C= (p.Pro1320=) c.3905C= (p.Pro1302=) c.3305C= (p.Pro1102=) c.4253C= (p.Pro1418=) c.4250C= (p.Pro1417=) c.4169C= (p.Pro1390=) c.4100C= (p.Pro1367=) c.3968C= (p.Pro1323=) c.3836C= (p.Pro1279=) | |
20 | g.32436701C>G | CA408564208 | ASXL1 | c.3989C>G (p.Pro1330Arg) c.3806C>G (p.Pro1269Arg) n.6342C>G c.1870-1729C>G (n.1870-1729C>G) c.3974C>G (p.Pro1325Arg) c.3986C>G (p.Pro1329Arg) c.3959C>G (p.Pro1320Arg) c.3905C>G (p.Pro1302Arg) c.3305C>G (p.Pro1102Arg) c.4253C>G (p.Pro1418Arg) c.4250C>G (p.Pro1417Arg) c.4169C>G (p.Pro1390Arg) c.4100C>G (p.Pro1367Arg) c.3968C>G (p.Pro1323Arg) c.3836C>G (p.Pro1279Arg) | ClinVar |
20 | g.32436701C>T | CA9808943 | ASXL1 | c.3989C>T (p.Pro1330Leu) c.3806C>T (p.Pro1269Leu) n.6342C>T c.1870-1729C>T (n.1870-1729C>T) c.3974C>T (p.Pro1325Leu) c.3986C>T (p.Pro1329Leu) c.3959C>T (p.Pro1320Leu) c.3905C>T (p.Pro1302Leu) c.3305C>T (p.Pro1102Leu) c.4253C>T (p.Pro1418Leu) c.4250C>T (p.Pro1417Leu) c.4169C>T (p.Pro1390Leu) c.4100C>T (p.Pro1367Leu) c.3968C>T (p.Pro1323Leu) c.3836C>T (p.Pro1279Leu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
20 | g.32436702T>A | CA510467553 | ASXL1 | c.3990T>A (p.Pro1330=) c.3807T>A (p.Pro1269=) n.6343T>A c.1870-1728T>A (n.1870-1728T>A) c.3975T>A (p.Pro1325=) c.3987T>A (p.Pro1329=) c.3960T>A (p.Pro1320=) c.3906T>A (p.Pro1302=) c.3306T>A (p.Pro1102=) c.4254T>A (p.Pro1418=) c.4251T>A (p.Pro1417=) c.4170T>A (p.Pro1390=) c.4101T>A (p.Pro1367=) c.3969T>A (p.Pro1323=) c.3837T>A (p.Pro1279=) | |
20 | g.32436702T>C | CA510467554 | ASXL1 | c.3990T>C (p.Pro1330=) c.3807T>C (p.Pro1269=) n.6343T>C c.1870-1728T>C (n.1870-1728T>C) c.3975T>C (p.Pro1325=) c.3987T>C (p.Pro1329=) c.3960T>C (p.Pro1320=) c.3906T>C (p.Pro1302=) c.3306T>C (p.Pro1102=) c.4254T>C (p.Pro1418=) c.4251T>C (p.Pro1417=) c.4170T>C (p.Pro1390=) c.4101T>C (p.Pro1367=) c.3969T>C (p.Pro1323=) c.3837T>C (p.Pro1279=) | |
20 | g.32436702T>G | CA9808944 | ASXL1 | c.3990T>G (p.Pro1330=) c.3807T>G (p.Pro1269=) n.6343T>G c.1870-1728T>G (n.1870-1728T>G) c.3975T>G (p.Pro1325=) c.3987T>G (p.Pro1329=) c.3960T>G (p.Pro1320=) c.3906T>G (p.Pro1302=) c.3306T>G (p.Pro1102=) c.4254T>G (p.Pro1418=) c.4251T>G (p.Pro1417=) c.4170T>G (p.Pro1390=) c.4101T>G (p.Pro1367=) c.3969T>G (p.Pro1323=) c.3837T>G (p.Pro1279=) | dbSNP ExAC gnomAD v2 |
20 | g.32436702T= | CA2360293827 | ASXL1 | c.3990T= (p.Pro1330=) c.3807T= (p.Pro1269=) n.6343T= c.1870-1728T= (n.1870-1728T=) c.3975T= (p.Pro1325=) c.3987T= (p.Pro1329=) c.3960T= (p.Pro1320=) c.3906T= (p.Pro1302=) c.3306T= (p.Pro1102=) c.4254T= (p.Pro1418=) c.4251T= (p.Pro1417=) c.4170T= (p.Pro1390=) c.4101T= (p.Pro1367=) c.3969T= (p.Pro1323=) c.3837T= (p.Pro1279=) | |
20 | g.32436703C>A | CA408564209 | ASXL1 | c.3991C>A (p.Pro1331Thr) c.3808C>A (p.Pro1270Thr) n.6344C>A c.1870-1727C>A (n.1870-1727C>A) c.3976C>A (p.Pro1326Thr) c.3988C>A (p.Pro1330Thr) c.3961C>A (p.Pro1321Thr) c.3907C>A (p.Pro1303Thr) c.3307C>A (p.Pro1103Thr) c.4255C>A (p.Pro1419Thr) c.4252C>A (p.Pro1418Thr) c.4171C>A (p.Pro1391Thr) c.4102C>A (p.Pro1368Thr) c.3970C>A (p.Pro1324Thr) c.3838C>A (p.Pro1280Thr) | |
20 | g.32436703C>G | CA408564210 | ASXL1 | c.3991C>G (p.Pro1331Ala) c.3808C>G (p.Pro1270Ala) n.6344C>G c.1870-1727C>G (n.1870-1727C>G) c.3976C>G (p.Pro1326Ala) c.3988C>G (p.Pro1330Ala) c.3961C>G (p.Pro1321Ala) c.3907C>G (p.Pro1303Ala) c.3307C>G (p.Pro1103Ala) c.4255C>G (p.Pro1419Ala) c.4252C>G (p.Pro1418Ala) c.4171C>G (p.Pro1391Ala) c.4102C>G (p.Pro1368Ala) c.3970C>G (p.Pro1324Ala) c.3838C>G (p.Pro1280Ala) | gnomAD v4 |
20 | g.32436703C>T | CA408564211 | ASXL1 | c.3991C>T (p.Pro1331Ser) c.3808C>T (p.Pro1270Ser) n.6344C>T c.1870-1727C>T (n.1870-1727C>T) c.3976C>T (p.Pro1326Ser) c.3988C>T (p.Pro1330Ser) c.3961C>T (p.Pro1321Ser) c.3907C>T (p.Pro1303Ser) c.3307C>T (p.Pro1103Ser) c.4255C>T (p.Pro1419Ser) c.4252C>T (p.Pro1418Ser) c.4171C>T (p.Pro1391Ser) c.4102C>T (p.Pro1368Ser) c.3970C>T (p.Pro1324Ser) c.3838C>T (p.Pro1280Ser) | gnomAD v4 COSMIC COSMIC |
20 | g.32436703_32436704delinsT | CA645612975 | ASXL1 | c.3991_3992delinsT (p.Pro1331Ter) c.3808_3809delinsT (p.Pro1270Ter) n.6344_6345delinsT c.1870-1727_1870-1726delinsT (n.1870-1727_1870-1726delinsT) c.3976_3977delinsT (p.Pro1326Ter) c.3988_3989delinsT (p.Pro1330Ter) c.3961_3962delinsT (p.Pro1321Ter) c.3907_3908delinsT (p.Pro1303Ter) c.3307_3308delinsT (p.Pro1103Ter) c.4255_4256delinsT (p.Pro1419Ter) c.4252_4253delinsT (p.Pro1418Ter) c.4171_4172delinsT (p.Pro1391Ter) c.4102_4103delinsT (p.Pro1368Ter) c.3970_3971delinsT (p.Pro1324Ter) c.3838_3839delinsT (p.Pro1280Ter) | COSMIC |
20 | g.32436704C>A | CA408564212 | ASXL1 | c.3992C>A (p.Pro1331Gln) c.3809C>A (p.Pro1270Gln) n.6345C>A c.1870-1726C>A (n.1870-1726C>A) c.3977C>A (p.Pro1326Gln) c.3989C>A (p.Pro1330Gln) c.3962C>A (p.Pro1321Gln) c.3908C>A (p.Pro1303Gln) c.3308C>A (p.Pro1103Gln) c.4256C>A (p.Pro1419Gln) c.4253C>A (p.Pro1418Gln) c.4172C>A (p.Pro1391Gln) c.4103C>A (p.Pro1368Gln) c.3971C>A (p.Pro1324Gln) c.3839C>A (p.Pro1280Gln) | |
20 | g.32436704C>G | CA408564213 | ASXL1 | c.3992C>G (p.Pro1331Arg) c.3809C>G (p.Pro1270Arg) n.6345C>G c.1870-1726C>G (n.1870-1726C>G) c.3977C>G (p.Pro1326Arg) c.3989C>G (p.Pro1330Arg) c.3962C>G (p.Pro1321Arg) c.3908C>G (p.Pro1303Arg) c.3308C>G (p.Pro1103Arg) c.4256C>G (p.Pro1419Arg) c.4253C>G (p.Pro1418Arg) c.4172C>G (p.Pro1391Arg) c.4103C>G (p.Pro1368Arg) c.3971C>G (p.Pro1324Arg) c.3839C>G (p.Pro1280Arg) | ClinVar |
20 | g.32436704C>T | CA408564214 | ASXL1 | c.3992C>T (p.Pro1331Leu) c.3809C>T (p.Pro1270Leu) n.6345C>T c.1870-1726C>T (n.1870-1726C>T) c.3977C>T (p.Pro1326Leu) c.3989C>T (p.Pro1330Leu) c.3962C>T (p.Pro1321Leu) c.3908C>T (p.Pro1303Leu) c.3308C>T (p.Pro1103Leu) c.4256C>T (p.Pro1419Leu) c.4253C>T (p.Pro1418Leu) c.4172C>T (p.Pro1391Leu) c.4103C>T (p.Pro1368Leu) c.3971C>T (p.Pro1324Leu) c.3839C>T (p.Pro1280Leu) | dbSNP |
20 | g.32436705A= | CA2360293828 | ASXL1 | c.3993A= (p.Pro1331=) c.3810A= (p.Pro1270=) n.6346A= c.1870-1725A= (n.1870-1725A=) c.3978A= (p.Pro1326=) c.3990A= (p.Pro1330=) c.3963A= (p.Pro1321=) c.3909A= (p.Pro1303=) c.3309A= (p.Pro1103=) c.4257A= (p.Pro1419=) c.4254A= (p.Pro1418=) c.4173A= (p.Pro1391=) c.4104A= (p.Pro1368=) c.3972A= (p.Pro1324=) c.3840A= (p.Pro1280=) | |
20 | g.32436705A>C | CA510467555 | ASXL1 | c.3993A>C (p.Pro1331=) c.3810A>C (p.Pro1270=) n.6346A>C c.1870-1725A>C (n.1870-1725A>C) c.3978A>C (p.Pro1326=) c.3990A>C (p.Pro1330=) c.3963A>C (p.Pro1321=) c.3909A>C (p.Pro1303=) c.3309A>C (p.Pro1103=) c.4257A>C (p.Pro1419=) c.4254A>C (p.Pro1418=) c.4173A>C (p.Pro1391=) c.4104A>C (p.Pro1368=) c.3972A>C (p.Pro1324=) c.3840A>C (p.Pro1280=) | |
20 | g.32436705A>G | CA510467556 | ASXL1 | c.3993A>G (p.Pro1331=) c.3810A>G (p.Pro1270=) n.6346A>G c.1870-1725A>G (n.1870-1725A>G) c.3978A>G (p.Pro1326=) c.3990A>G (p.Pro1330=) c.3963A>G (p.Pro1321=) c.3909A>G (p.Pro1303=) c.3309A>G (p.Pro1103=) c.4257A>G (p.Pro1419=) c.4254A>G (p.Pro1418=) c.4173A>G (p.Pro1391=) c.4104A>G (p.Pro1368=) c.3972A>G (p.Pro1324=) c.3840A>G (p.Pro1280=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436705A>T | CA510467557 | ASXL1 | c.3993A>T (p.Pro1331=) c.3810A>T (p.Pro1270=) n.6346A>T c.1870-1725A>T (n.1870-1725A>T) c.3978A>T (p.Pro1326=) c.3990A>T (p.Pro1330=) c.3963A>T (p.Pro1321=) c.3909A>T (p.Pro1303=) c.3309A>T (p.Pro1103=) c.4257A>T (p.Pro1419=) c.4254A>T (p.Pro1418=) c.4173A>T (p.Pro1391=) c.4104A>T (p.Pro1368=) c.3972A>T (p.Pro1324=) c.3840A>T (p.Pro1280=) | |
20 | g.32436706G>A | CA408564215 | ASXL1 | c.3994G>A (p.Val1332Ile) c.3811G>A (p.Val1271Ile) n.6347G>A c.1870-1724G>A (n.1870-1724G>A) c.3979G>A (p.Val1327Ile) c.3991G>A (p.Val1331Ile) c.3964G>A (p.Val1322Ile) c.3910G>A (p.Val1304Ile) c.3310G>A (p.Val1104Ile) c.4258G>A (p.Val1420Ile) c.4255G>A (p.Val1419Ile) c.4174G>A (p.Val1392Ile) c.4105G>A (p.Val1369Ile) c.3973G>A (p.Val1325Ile) c.3841G>A (p.Val1281Ile) | |
20 | g.32436706G>C | CA408564217 | ASXL1 | c.3994G>C (p.Val1332Leu) c.3811G>C (p.Val1271Leu) n.6347G>C c.1870-1724G>C (n.1870-1724G>C) c.3979G>C (p.Val1327Leu) c.3991G>C (p.Val1331Leu) c.3964G>C (p.Val1322Leu) c.3910G>C (p.Val1304Leu) c.3310G>C (p.Val1104Leu) c.4258G>C (p.Val1420Leu) c.4255G>C (p.Val1419Leu) c.4174G>C (p.Val1392Leu) c.4105G>C (p.Val1369Leu) c.3973G>C (p.Val1325Leu) c.3841G>C (p.Val1281Leu) | |
20 | g.32436706G>T | CA408564216 | ASXL1 | c.3994G>T (p.Val1332Phe) c.3811G>T (p.Val1271Phe) n.6347G>T c.1870-1724G>T (n.1870-1724G>T) c.3979G>T (p.Val1327Phe) c.3991G>T (p.Val1331Phe) c.3964G>T (p.Val1322Phe) c.3910G>T (p.Val1304Phe) c.3310G>T (p.Val1104Phe) c.4258G>T (p.Val1420Phe) c.4255G>T (p.Val1419Phe) c.4174G>T (p.Val1392Phe) c.4105G>T (p.Val1369Phe) c.3973G>T (p.Val1325Phe) c.3841G>T (p.Val1281Phe) | |
20 | g.32436707T>A | CA408564218 | ASXL1 | c.3995T>A (p.Val1332Asp) c.3812T>A (p.Val1271Asp) n.6348T>A c.1870-1723T>A (n.1870-1723T>A) c.3980T>A (p.Val1327Asp) c.3992T>A (p.Val1331Asp) c.3965T>A (p.Val1322Asp) c.3911T>A (p.Val1304Asp) c.3311T>A (p.Val1104Asp) c.4259T>A (p.Val1420Asp) c.4256T>A (p.Val1419Asp) c.4175T>A (p.Val1392Asp) c.4106T>A (p.Val1369Asp) c.3974T>A (p.Val1325Asp) c.3842T>A (p.Val1281Asp) | |
20 | g.32436707T>C | CA408564219 | ASXL1 | c.3995T>C (p.Val1332Ala) c.3812T>C (p.Val1271Ala) n.6348T>C c.1870-1723T>C (n.1870-1723T>C) c.3980T>C (p.Val1327Ala) c.3992T>C (p.Val1331Ala) c.3965T>C (p.Val1322Ala) c.3911T>C (p.Val1304Ala) c.3311T>C (p.Val1104Ala) c.4259T>C (p.Val1420Ala) c.4256T>C (p.Val1419Ala) c.4175T>C (p.Val1392Ala) c.4106T>C (p.Val1369Ala) c.3974T>C (p.Val1325Ala) c.3842T>C (p.Val1281Ala) | |
20 | g.32436707T>G | CA408564220 | ASXL1 | c.3995T>G (p.Val1332Gly) c.3812T>G (p.Val1271Gly) n.6348T>G c.1870-1723T>G (n.1870-1723T>G) c.3980T>G (p.Val1327Gly) c.3992T>G (p.Val1331Gly) c.3965T>G (p.Val1322Gly) c.3911T>G (p.Val1304Gly) c.3311T>G (p.Val1104Gly) c.4259T>G (p.Val1420Gly) c.4256T>G (p.Val1419Gly) c.4175T>G (p.Val1392Gly) c.4106T>G (p.Val1369Gly) c.3974T>G (p.Val1325Gly) c.3842T>G (p.Val1281Gly) | |
20 | g.32436711del | CA2736734513 | ASXL1 | c.3999del (p.Ser1335ValfsTer?) c.3816del (p.Ser1274ValfsTer?) n.6352del c.1870-1719del (n.1870-1719del) c.3984del (p.Ser1330ValfsTer?) c.3996del (p.Ser1334ValfsTer?) c.3969del (p.Ser1325ValfsTer?) c.3915del (p.Ser1307ValfsTer?) c.3315del (p.Ser1107ValfsTer?) c.4263del (p.Ser1423ValfsTer?) c.4260del (p.Ser1422ValfsTer?) c.4179del (p.Ser1395ValfsTer?) c.4110del (p.Ser1372ValfsTer?) c.3978del (p.Ser1328ValfsTer?) c.3846del (p.Ser1284ValfsTer?) | dbSNP |
20 | g.32436708T>A | CA510467559 | ASXL1 | c.3996T>A (p.Val1332=) c.3813T>A (p.Val1271=) n.6349T>A c.1870-1722T>A (n.1870-1722T>A) c.3981T>A (p.Val1327=) c.3993T>A (p.Val1331=) c.3966T>A (p.Val1322=) c.3912T>A (p.Val1304=) c.3312T>A (p.Val1104=) c.4260T>A (p.Val1420=) c.4257T>A (p.Val1419=) c.4176T>A (p.Val1392=) c.4107T>A (p.Val1369=) c.3975T>A (p.Val1325=) c.3843T>A (p.Val1281=) | |
20 | g.32436708T>C | CA510467560 | ASXL1 | c.3996T>C (p.Val1332=) c.3813T>C (p.Val1271=) n.6349T>C c.1870-1722T>C (n.1870-1722T>C) c.3981T>C (p.Val1327=) c.3993T>C (p.Val1331=) c.3966T>C (p.Val1322=) c.3912T>C (p.Val1304=) c.3312T>C (p.Val1104=) c.4260T>C (p.Val1420=) c.4257T>C (p.Val1419=) c.4176T>C (p.Val1392=) c.4107T>C (p.Val1369=) c.3975T>C (p.Val1325=) c.3843T>C (p.Val1281=) | |
20 | g.32436708T>G | CA510467561 | ASXL1 | c.3996T>G (p.Val1332=) c.3813T>G (p.Val1271=) n.6349T>G c.1870-1722T>G (n.1870-1722T>G) c.3981T>G (p.Val1327=) c.3993T>G (p.Val1331=) c.3966T>G (p.Val1322=) c.3912T>G (p.Val1304=) c.3312T>G (p.Val1104=) c.4260T>G (p.Val1420=) c.4257T>G (p.Val1419=) c.4176T>G (p.Val1392=) c.4107T>G (p.Val1369=) c.3975T>G (p.Val1325=) c.3843T>G (p.Val1281=) | |
20 | g.32436709T>A | CA408564221 | ASXL1 | c.3997T>A (p.Phe1333Ile) c.3814T>A (p.Phe1272Ile) n.6350T>A c.1870-1721T>A (n.1870-1721T>A) c.3982T>A (p.Phe1328Ile) c.3994T>A (p.Phe1332Ile) c.3967T>A (p.Phe1323Ile) c.3913T>A (p.Phe1305Ile) c.3313T>A (p.Phe1105Ile) c.4261T>A (p.Phe1421Ile) c.4258T>A (p.Phe1420Ile) c.4177T>A (p.Phe1393Ile) c.4108T>A (p.Phe1370Ile) c.3976T>A (p.Phe1326Ile) c.3844T>A (p.Phe1282Ile) | |
20 | g.32436709T>C | CA408564222 | ASXL1 | c.3997T>C (p.Phe1333Leu) c.3814T>C (p.Phe1272Leu) n.6350T>C c.1870-1721T>C (n.1870-1721T>C) c.3982T>C (p.Phe1328Leu) c.3994T>C (p.Phe1332Leu) c.3967T>C (p.Phe1323Leu) c.3913T>C (p.Phe1305Leu) c.3313T>C (p.Phe1105Leu) c.4261T>C (p.Phe1421Leu) c.4258T>C (p.Phe1420Leu) c.4177T>C (p.Phe1393Leu) c.4108T>C (p.Phe1370Leu) c.3976T>C (p.Phe1326Leu) c.3844T>C (p.Phe1282Leu) | |
20 | g.32436709T>G | CA408564223 | ASXL1 | c.3997T>G (p.Phe1333Val) c.3814T>G (p.Phe1272Val) n.6350T>G c.1870-1721T>G (n.1870-1721T>G) c.3982T>G (p.Phe1328Val) c.3994T>G (p.Phe1332Val) c.3967T>G (p.Phe1323Val) c.3913T>G (p.Phe1305Val) c.3313T>G (p.Phe1105Val) c.4261T>G (p.Phe1421Val) c.4258T>G (p.Phe1420Val) c.4177T>G (p.Phe1393Val) c.4108T>G (p.Phe1370Val) c.3976T>G (p.Phe1326Val) c.3844T>G (p.Phe1282Val) | |
20 | g.32436710T>A | CA408564226 | ASXL1 | c.3998T>A (p.Phe1333Tyr) c.3815T>A (p.Phe1272Tyr) n.6351T>A c.1870-1720T>A (n.1870-1720T>A) c.3983T>A (p.Phe1328Tyr) c.3995T>A (p.Phe1332Tyr) c.3968T>A (p.Phe1323Tyr) c.3914T>A (p.Phe1305Tyr) c.3314T>A (p.Phe1105Tyr) c.4262T>A (p.Phe1421Tyr) c.4259T>A (p.Phe1420Tyr) c.4178T>A (p.Phe1393Tyr) c.4109T>A (p.Phe1370Tyr) c.3977T>A (p.Phe1326Tyr) c.3845T>A (p.Phe1282Tyr) | |
20 | g.32436710T>C | CA408564224 | ASXL1 | c.3998T>C (p.Phe1333Ser) c.3815T>C (p.Phe1272Ser) n.6351T>C c.1870-1720T>C (n.1870-1720T>C) c.3983T>C (p.Phe1328Ser) c.3995T>C (p.Phe1332Ser) c.3968T>C (p.Phe1323Ser) c.3914T>C (p.Phe1305Ser) c.3314T>C (p.Phe1105Ser) c.4262T>C (p.Phe1421Ser) c.4259T>C (p.Phe1420Ser) c.4178T>C (p.Phe1393Ser) c.4109T>C (p.Phe1370Ser) c.3977T>C (p.Phe1326Ser) c.3845T>C (p.Phe1282Ser) | dbSNP |
20 | g.32436710T>G | CA408564225 | ASXL1 | c.3998T>G (p.Phe1333Cys) c.3815T>G (p.Phe1272Cys) n.6351T>G c.1870-1720T>G (n.1870-1720T>G) c.3983T>G (p.Phe1328Cys) c.3995T>G (p.Phe1332Cys) c.3968T>G (p.Phe1323Cys) c.3914T>G (p.Phe1305Cys) c.3314T>G (p.Phe1105Cys) c.4262T>G (p.Phe1421Cys) c.4259T>G (p.Phe1420Cys) c.4178T>G (p.Phe1393Cys) c.4109T>G (p.Phe1370Cys) c.3977T>G (p.Phe1326Cys) c.3845T>G (p.Phe1282Cys) | |
20 | g.32436711T>A | CA408564227 | ASXL1 | c.3999T>A (p.Phe1333Leu) c.3816T>A (p.Phe1272Leu) n.6352T>A c.1870-1719T>A (n.1870-1719T>A) c.3984T>A (p.Phe1328Leu) c.3996T>A (p.Phe1332Leu) c.3969T>A (p.Phe1323Leu) c.3915T>A (p.Phe1305Leu) c.3315T>A (p.Phe1105Leu) c.4263T>A (p.Phe1421Leu) c.4260T>A (p.Phe1420Leu) c.4179T>A (p.Phe1393Leu) c.4110T>A (p.Phe1370Leu) c.3978T>A (p.Phe1326Leu) c.3846T>A (p.Phe1282Leu) | |
20 | g.32436711T>C | CA510467565 | ASXL1 | c.3999T>C (p.Phe1333=) c.3816T>C (p.Phe1272=) n.6352T>C c.1870-1719T>C (n.1870-1719T>C) c.3984T>C (p.Phe1328=) c.3996T>C (p.Phe1332=) c.3969T>C (p.Phe1323=) c.3915T>C (p.Phe1305=) c.3315T>C (p.Phe1105=) c.4263T>C (p.Phe1421=) c.4260T>C (p.Phe1420=) c.4179T>C (p.Phe1393=) c.4110T>C (p.Phe1370=) c.3978T>C (p.Phe1326=) c.3846T>C (p.Phe1282=) | |
20 | g.32436711T>G | CA408564228 | ASXL1 | c.3999T>G (p.Phe1333Leu) c.3816T>G (p.Phe1272Leu) n.6352T>G c.1870-1719T>G (n.1870-1719T>G) c.3984T>G (p.Phe1328Leu) c.3996T>G (p.Phe1332Leu) c.3969T>G (p.Phe1323Leu) c.3915T>G (p.Phe1305Leu) c.3315T>G (p.Phe1105Leu) c.4263T>G (p.Phe1421Leu) c.4260T>G (p.Phe1420Leu) c.4179T>G (p.Phe1393Leu) c.4110T>G (p.Phe1370Leu) c.3978T>G (p.Phe1326Leu) c.3846T>G (p.Phe1282Leu) | |
20 | g.32436712C>A | CA408564229 | ASXL1 | c.4000C>A (p.Pro1334Thr) c.3817C>A (p.Pro1273Thr) n.6353C>A c.1870-1718C>A (n.1870-1718C>A) c.3985C>A (p.Pro1329Thr) c.3997C>A (p.Pro1333Thr) c.3970C>A (p.Pro1324Thr) c.3916C>A (p.Pro1306Thr) c.3316C>A (p.Pro1106Thr) c.4264C>A (p.Pro1422Thr) c.4261C>A (p.Pro1421Thr) c.4180C>A (p.Pro1394Thr) c.4111C>A (p.Pro1371Thr) c.3979C>A (p.Pro1327Thr) c.3847C>A (p.Pro1283Thr) | |
20 | g.32436712C>G | CA408564230 | ASXL1 | c.4000C>G (p.Pro1334Ala) c.3817C>G (p.Pro1273Ala) n.6353C>G c.1870-1718C>G (n.1870-1718C>G) c.3985C>G (p.Pro1329Ala) c.3997C>G (p.Pro1333Ala) c.3970C>G (p.Pro1324Ala) c.3916C>G (p.Pro1306Ala) c.3316C>G (p.Pro1106Ala) c.4264C>G (p.Pro1422Ala) c.4261C>G (p.Pro1421Ala) c.4180C>G (p.Pro1394Ala) c.4111C>G (p.Pro1371Ala) c.3979C>G (p.Pro1327Ala) c.3847C>G (p.Pro1283Ala) | ClinVar |
20 | g.32436712C>T | CA408564231 | ASXL1 | c.4000C>T (p.Pro1334Ser) c.3817C>T (p.Pro1273Ser) n.6353C>T c.1870-1718C>T (n.1870-1718C>T) c.3985C>T (p.Pro1329Ser) c.3997C>T (p.Pro1333Ser) c.3970C>T (p.Pro1324Ser) c.3916C>T (p.Pro1306Ser) c.3316C>T (p.Pro1106Ser) c.4264C>T (p.Pro1422Ser) c.4261C>T (p.Pro1421Ser) c.4180C>T (p.Pro1394Ser) c.4111C>T (p.Pro1371Ser) c.3979C>T (p.Pro1327Ser) c.3847C>T (p.Pro1283Ser) | |
20 | g.32436714del | CA2580098171 | ASXL1 | c.4002del (p.Ser1335ValfsTer?) c.3819del (p.Ser1274ValfsTer?) n.6355del c.1870-1716del (n.1870-1716del) c.3987del (p.Ser1330ValfsTer?) c.3999del (p.Ser1334ValfsTer?) c.3972del (p.Ser1325ValfsTer?) c.3918del (p.Ser1307ValfsTer?) c.3318del (p.Ser1107ValfsTer?) c.4266del (p.Ser1423ValfsTer?) c.4263del (p.Ser1422ValfsTer?) c.4182del (p.Ser1395ValfsTer?) c.4113del (p.Ser1372ValfsTer?) c.3981del (p.Ser1328ValfsTer?) c.3849del (p.Ser1284ValfsTer?) | ClinVar |
20 | g.32436713C>A | CA408564232 | ASXL1 | c.4001C>A (p.Pro1334His) c.3818C>A (p.Pro1273His) n.6354C>A c.1870-1717C>A (n.1870-1717C>A) c.3986C>A (p.Pro1329His) c.3998C>A (p.Pro1333His) c.3971C>A (p.Pro1324His) c.3917C>A (p.Pro1306His) c.3317C>A (p.Pro1106His) c.4265C>A (p.Pro1422His) c.4262C>A (p.Pro1421His) c.4181C>A (p.Pro1394His) c.4112C>A (p.Pro1371His) c.3980C>A (p.Pro1327His) c.3848C>A (p.Pro1283His) | dbSNP |
20 | g.32436713C= | CA2360293829 | ASXL1 | c.4001C= (p.Pro1334=) c.3818C= (p.Pro1273=) n.6354C= c.1870-1717C= (n.1870-1717C=) c.3986C= (p.Pro1329=) c.3998C= (p.Pro1333=) c.3971C= (p.Pro1324=) c.3917C= (p.Pro1306=) c.3317C= (p.Pro1106=) c.4265C= (p.Pro1422=) c.4262C= (p.Pro1421=) c.4181C= (p.Pro1394=) c.4112C= (p.Pro1371=) c.3980C= (p.Pro1327=) c.3848C= (p.Pro1283=) | |
20 | g.32436713C>G | CA408564234 | ASXL1 | c.4001C>G (p.Pro1334Arg) c.3818C>G (p.Pro1273Arg) n.6354C>G c.1870-1717C>G (n.1870-1717C>G) c.3986C>G (p.Pro1329Arg) c.3998C>G (p.Pro1333Arg) c.3971C>G (p.Pro1324Arg) c.3917C>G (p.Pro1306Arg) c.3317C>G (p.Pro1106Arg) c.4265C>G (p.Pro1422Arg) c.4262C>G (p.Pro1421Arg) c.4181C>G (p.Pro1394Arg) c.4112C>G (p.Pro1371Arg) c.3980C>G (p.Pro1327Arg) c.3848C>G (p.Pro1283Arg) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436713C>T | CA408564233 | ASXL1 | c.4001C>T (p.Pro1334Leu) c.3818C>T (p.Pro1273Leu) n.6354C>T c.1870-1717C>T (n.1870-1717C>T) c.3986C>T (p.Pro1329Leu) c.3998C>T (p.Pro1333Leu) c.3971C>T (p.Pro1324Leu) c.3917C>T (p.Pro1306Leu) c.3317C>T (p.Pro1106Leu) c.4265C>T (p.Pro1422Leu) c.4262C>T (p.Pro1421Leu) c.4181C>T (p.Pro1394Leu) c.4112C>T (p.Pro1371Leu) c.3980C>T (p.Pro1327Leu) c.3848C>T (p.Pro1283Leu) | COSMIC COSMIC |
20 | g.32436714C>A | CA510467569 | ASXL1 | c.4002C>A (p.Pro1334=) c.3819C>A (p.Pro1273=) n.6355C>A c.1870-1716C>A (n.1870-1716C>A) c.3987C>A (p.Pro1329=) c.3999C>A (p.Pro1333=) c.3972C>A (p.Pro1324=) c.3918C>A (p.Pro1306=) c.3318C>A (p.Pro1106=) c.4266C>A (p.Pro1422=) c.4263C>A (p.Pro1421=) c.4182C>A (p.Pro1394=) c.4113C>A (p.Pro1371=) c.3981C>A (p.Pro1327=) c.3849C>A (p.Pro1283=) | |
20 | g.32436714C>G | CA510467568 | ASXL1 | c.4002C>G (p.Pro1334=) c.3819C>G (p.Pro1273=) n.6355C>G c.1870-1716C>G (n.1870-1716C>G) c.3987C>G (p.Pro1329=) c.3999C>G (p.Pro1333=) c.3972C>G (p.Pro1324=) c.3918C>G (p.Pro1306=) c.3318C>G (p.Pro1106=) c.4266C>G (p.Pro1422=) c.4263C>G (p.Pro1421=) c.4182C>G (p.Pro1394=) c.4113C>G (p.Pro1371=) c.3981C>G (p.Pro1327=) c.3849C>G (p.Pro1283=) | |
20 | g.32436714C>T | CA510467567 | ASXL1 | c.4002C>T (p.Pro1334=) c.3819C>T (p.Pro1273=) n.6355C>T c.1870-1716C>T (n.1870-1716C>T) c.3987C>T (p.Pro1329=) c.3999C>T (p.Pro1333=) c.3972C>T (p.Pro1324=) c.3918C>T (p.Pro1306=) c.3318C>T (p.Pro1106=) c.4266C>T (p.Pro1422=) c.4263C>T (p.Pro1421=) c.4182C>T (p.Pro1394=) c.4113C>T (p.Pro1371=) c.3981C>T (p.Pro1327=) c.3849C>T (p.Pro1283=) | |
20 | g.32436715A>C | CA408564235 | ASXL1 | c.4003A>C (p.Ser1335Arg) c.3820A>C (p.Ser1274Arg) n.6356A>C c.1870-1715A>C (n.1870-1715A>C) c.3988A>C (p.Ser1330Arg) c.4000A>C (p.Ser1334Arg) c.3973A>C (p.Ser1325Arg) c.3919A>C (p.Ser1307Arg) c.3319A>C (p.Ser1107Arg) c.4267A>C (p.Ser1423Arg) c.4264A>C (p.Ser1422Arg) c.4183A>C (p.Ser1395Arg) c.4114A>C (p.Ser1372Arg) c.3982A>C (p.Ser1328Arg) c.3850A>C (p.Ser1284Arg) | |
20 | g.32436715A>G | CA408564236 | ASXL1 | c.4003A>G (p.Ser1335Gly) c.3820A>G (p.Ser1274Gly) n.6356A>G c.1870-1715A>G (n.1870-1715A>G) c.3988A>G (p.Ser1330Gly) c.4000A>G (p.Ser1334Gly) c.3973A>G (p.Ser1325Gly) c.3919A>G (p.Ser1307Gly) c.3319A>G (p.Ser1107Gly) c.4267A>G (p.Ser1423Gly) c.4264A>G (p.Ser1422Gly) c.4183A>G (p.Ser1395Gly) c.4114A>G (p.Ser1372Gly) c.3982A>G (p.Ser1328Gly) c.3850A>G (p.Ser1284Gly) | gnomAD v4 |
20 | g.32436715A>T | CA408564237 | ASXL1 | c.4003A>T (p.Ser1335Cys) c.3820A>T (p.Ser1274Cys) n.6356A>T c.1870-1715A>T (n.1870-1715A>T) c.3988A>T (p.Ser1330Cys) c.4000A>T (p.Ser1334Cys) c.3973A>T (p.Ser1325Cys) c.3919A>T (p.Ser1307Cys) c.3319A>T (p.Ser1107Cys) c.4267A>T (p.Ser1423Cys) c.4264A>T (p.Ser1422Cys) c.4183A>T (p.Ser1395Cys) c.4114A>T (p.Ser1372Cys) c.3982A>T (p.Ser1328Cys) c.3850A>T (p.Ser1284Cys) | |
20 | g.32436716G>A | CA9808945 | ASXL1 | c.4004G>A (p.Ser1335Asn) c.3821G>A (p.Ser1274Asn) n.6357G>A c.1870-1714G>A (n.1870-1714G>A) c.3989G>A (p.Ser1330Asn) c.4001G>A (p.Ser1334Asn) c.3974G>A (p.Ser1325Asn) c.3920G>A (p.Ser1307Asn) c.3320G>A (p.Ser1107Asn) c.4268G>A (p.Ser1423Asn) c.4265G>A (p.Ser1422Asn) c.4184G>A (p.Ser1395Asn) c.4115G>A (p.Ser1372Asn) c.3983G>A (p.Ser1328Asn) c.3851G>A (p.Ser1284Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436716G>C | CA408564238 | ASXL1 | c.4004G>C (p.Ser1335Thr) c.3821G>C (p.Ser1274Thr) n.6357G>C c.1870-1714G>C (n.1870-1714G>C) c.3989G>C (p.Ser1330Thr) c.4001G>C (p.Ser1334Thr) c.3974G>C (p.Ser1325Thr) c.3920G>C (p.Ser1307Thr) c.3320G>C (p.Ser1107Thr) c.4268G>C (p.Ser1423Thr) c.4265G>C (p.Ser1422Thr) c.4184G>C (p.Ser1395Thr) c.4115G>C (p.Ser1372Thr) c.3983G>C (p.Ser1328Thr) c.3851G>C (p.Ser1284Thr) | |
20 | g.32436716G= | CA2360293830 | ASXL1 | c.4004G= (p.Ser1335=) c.3821G= (p.Ser1274=) n.6357G= c.1870-1714G= (n.1870-1714G=) c.3989G= (p.Ser1330=) c.4001G= (p.Ser1334=) c.3974G= (p.Ser1325=) c.3920G= (p.Ser1307=) c.3320G= (p.Ser1107=) c.4268G= (p.Ser1423=) c.4265G= (p.Ser1422=) c.4184G= (p.Ser1395=) c.4115G= (p.Ser1372=) c.3983G= (p.Ser1328=) c.3851G= (p.Ser1284=) | |
20 | g.32436716G>T | CA408564239 | ASXL1 | c.4004G>T (p.Ser1335Ile) c.3821G>T (p.Ser1274Ile) n.6357G>T c.1870-1714G>T (n.1870-1714G>T) c.3989G>T (p.Ser1330Ile) c.4001G>T (p.Ser1334Ile) c.3974G>T (p.Ser1325Ile) c.3920G>T (p.Ser1307Ile) c.3320G>T (p.Ser1107Ile) c.4268G>T (p.Ser1423Ile) c.4265G>T (p.Ser1422Ile) c.4184G>T (p.Ser1395Ile) c.4115G>T (p.Ser1372Ile) c.3983G>T (p.Ser1328Ile) c.3851G>T (p.Ser1284Ile) | |
20 | g.32436717T>A | CA408564240 | ASXL1 | c.4005T>A (p.Ser1335Arg) c.3822T>A (p.Ser1274Arg) n.6358T>A c.1870-1713T>A (n.1870-1713T>A) c.3990T>A (p.Ser1330Arg) c.4002T>A (p.Ser1334Arg) c.3975T>A (p.Ser1325Arg) c.3921T>A (p.Ser1307Arg) c.3321T>A (p.Ser1107Arg) c.4269T>A (p.Ser1423Arg) c.4266T>A (p.Ser1422Arg) c.4185T>A (p.Ser1395Arg) c.4116T>A (p.Ser1372Arg) c.3984T>A (p.Ser1328Arg) c.3852T>A (p.Ser1284Arg) | |
20 | g.32436717T>C | CA510467570 | ASXL1 | c.4005T>C (p.Ser1335=) c.3822T>C (p.Ser1274=) n.6358T>C c.1870-1713T>C (n.1870-1713T>C) c.3990T>C (p.Ser1330=) c.4002T>C (p.Ser1334=) c.3975T>C (p.Ser1325=) c.3921T>C (p.Ser1307=) c.3321T>C (p.Ser1107=) c.4269T>C (p.Ser1423=) c.4266T>C (p.Ser1422=) c.4185T>C (p.Ser1395=) c.4116T>C (p.Ser1372=) c.3984T>C (p.Ser1328=) c.3852T>C (p.Ser1284=) | |
20 | g.32436717T>G | CA408564241 | ASXL1 | c.4005T>G (p.Ser1335Arg) c.3822T>G (p.Ser1274Arg) n.6358T>G c.1870-1713T>G (n.1870-1713T>G) c.3990T>G (p.Ser1330Arg) c.4002T>G (p.Ser1334Arg) c.3975T>G (p.Ser1325Arg) c.3921T>G (p.Ser1307Arg) c.3321T>G (p.Ser1107Arg) c.4269T>G (p.Ser1423Arg) c.4266T>G (p.Ser1422Arg) c.4185T>G (p.Ser1395Arg) c.4116T>G (p.Ser1372Arg) c.3984T>G (p.Ser1328Arg) c.3852T>G (p.Ser1284Arg) | |
20 | g.32436718G>A | CA408564242 | ASXL1 | c.4006G>A (p.Gly1336Arg) c.3823G>A (p.Gly1275Arg) n.6359G>A c.1870-1712G>A (n.1870-1712G>A) c.3991G>A (p.Gly1331Arg) c.4003G>A (p.Gly1335Arg) c.3976G>A (p.Gly1326Arg) c.3922G>A (p.Gly1308Arg) c.3322G>A (p.Gly1108Arg) c.4270G>A (p.Gly1424Arg) c.4267G>A (p.Gly1423Arg) c.4186G>A (p.Gly1396Arg) c.4117G>A (p.Gly1373Arg) c.3985G>A (p.Gly1329Arg) c.3853G>A (p.Gly1285Arg) | gnomAD v4 |
20 | g.32436718G>C | CA408564243 | ASXL1 | c.4006G>C (p.Gly1336Arg) c.3823G>C (p.Gly1275Arg) n.6359G>C c.1870-1712G>C (n.1870-1712G>C) c.3991G>C (p.Gly1331Arg) c.4003G>C (p.Gly1335Arg) c.3976G>C (p.Gly1326Arg) c.3922G>C (p.Gly1308Arg) c.3322G>C (p.Gly1108Arg) c.4270G>C (p.Gly1424Arg) c.4267G>C (p.Gly1423Arg) c.4186G>C (p.Gly1396Arg) c.4117G>C (p.Gly1373Arg) c.3985G>C (p.Gly1329Arg) c.3853G>C (p.Gly1285Arg) | |
20 | g.32436718G>T | CA408564244 | ASXL1 | c.4006G>T (p.Gly1336Trp) c.3823G>T (p.Gly1275Trp) n.6359G>T c.1870-1712G>T (n.1870-1712G>T) c.3991G>T (p.Gly1331Trp) c.4003G>T (p.Gly1335Trp) c.3976G>T (p.Gly1326Trp) c.3922G>T (p.Gly1308Trp) c.3322G>T (p.Gly1108Trp) c.4270G>T (p.Gly1424Trp) c.4267G>T (p.Gly1423Trp) c.4186G>T (p.Gly1396Trp) c.4117G>T (p.Gly1373Trp) c.3985G>T (p.Gly1329Trp) c.3853G>T (p.Gly1285Trp) | |
20 | g.32436719G>A | CA408564245 | ASXL1 | c.4007G>A (p.Gly1336Glu) c.3824G>A (p.Gly1275Glu) n.6360G>A c.1870-1711G>A (n.1870-1711G>A) c.3992G>A (p.Gly1331Glu) c.4004G>A (p.Gly1335Glu) c.3977G>A (p.Gly1326Glu) c.3923G>A (p.Gly1308Glu) c.3323G>A (p.Gly1108Glu) c.4271G>A (p.Gly1424Glu) c.4268G>A (p.Gly1423Glu) c.4187G>A (p.Gly1396Glu) c.4118G>A (p.Gly1373Glu) c.3986G>A (p.Gly1329Glu) c.3854G>A (p.Gly1285Glu) | |
20 | g.32436719G>C | CA408564247 | ASXL1 | c.4007G>C (p.Gly1336Ala) c.3824G>C (p.Gly1275Ala) n.6360G>C c.1870-1711G>C (n.1870-1711G>C) c.3992G>C (p.Gly1331Ala) c.4004G>C (p.Gly1335Ala) c.3977G>C (p.Gly1326Ala) c.3923G>C (p.Gly1308Ala) c.3323G>C (p.Gly1108Ala) c.4271G>C (p.Gly1424Ala) c.4268G>C (p.Gly1423Ala) c.4187G>C (p.Gly1396Ala) c.4118G>C (p.Gly1373Ala) c.3986G>C (p.Gly1329Ala) c.3854G>C (p.Gly1285Ala) | |
20 | g.32436719G>T | CA408564246 | ASXL1 | c.4007G>T (p.Gly1336Val) c.3824G>T (p.Gly1275Val) n.6360G>T c.1870-1711G>T (n.1870-1711G>T) c.3992G>T (p.Gly1331Val) c.4004G>T (p.Gly1335Val) c.3977G>T (p.Gly1326Val) c.3923G>T (p.Gly1308Val) c.3323G>T (p.Gly1108Val) c.4271G>T (p.Gly1424Val) c.4268G>T (p.Gly1423Val) c.4187G>T (p.Gly1396Val) c.4118G>T (p.Gly1373Val) c.3986G>T (p.Gly1329Val) c.3854G>T (p.Gly1285Val) |