Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25742421G>A | CA43734274 | ASXL2 | c.3913C>T (p.Leu1305=) c.3916C>T (p.Leu1306=) c.3832C>T (p.Leu1278=) c.2365C>T (p.Leu789=) c.3550C>T (p.Leu1184=) c.3136C>T (p.Leu1046=) c.3742C>T (p.Leu1248=) c.4096C>T (p.Leu1366=) | dbSNP |
2 | g.25742421G>C | CA346075253 | ASXL2 | c.3913C>G (p.Leu1305Val) c.3916C>G (p.Leu1306Val) c.3832C>G (p.Leu1278Val) c.2365C>G (p.Leu789Val) c.3550C>G (p.Leu1184Val) c.3136C>G (p.Leu1046Val) c.3742C>G (p.Leu1248Val) c.4096C>G (p.Leu1366Val) | |
2 | g.25742421G= | CA1239490460 | ASXL2 | c.3913C= (p.Leu1305=) c.3916C= (p.Leu1306=) c.3832C= (p.Leu1278=) c.2365C= (p.Leu789=) c.3550C= (p.Leu1184=) c.3136C= (p.Leu1046=) c.3742C= (p.Leu1248=) c.4096C= (p.Leu1366=) | |
2 | g.25742421G>T | CA346075256 | ASXL2 | c.3913C>A (p.Leu1305Ile) c.3916C>A (p.Leu1306Ile) c.3832C>A (p.Leu1278Ile) c.2365C>A (p.Leu789Ile) c.3550C>A (p.Leu1184Ile) c.3136C>A (p.Leu1046Ile) c.3742C>A (p.Leu1248Ile) c.4096C>A (p.Leu1366Ile) | gnomAD v4 |
2 | g.25742428_25742440del | CA2658189298 | ASXL2 | c.3901_3913del (p.Thr1301TyrfsTer18) c.3904_3916del (p.Thr1302TyrfsTer18) c.3820_3832del (p.Thr1274TyrfsTer18) c.2353_2365del (p.Thr785TyrfsTer18) c.3538_3550del (p.Thr1180TyrfsTer18) c.3124_3136del (p.Thr1042TyrfsTer18) c.3730_3742del (p.Thr1244TyrfsTer18) c.4084_4096del (p.Thr1362TyrfsTer18) | gnomAD v4 |
2 | g.25742422G>A | CA425354859 | ASXL2 | c.3912C>T (p.Pro1304=) c.3915C>T (p.Pro1305=) c.3831C>T (p.Pro1277=) c.2364C>T (p.Pro788=) c.3549C>T (p.Pro1183=) c.3135C>T (p.Pro1045=) c.3741C>T (p.Pro1247=) c.4095C>T (p.Pro1365=) | gnomAD v4 |
2 | g.25742422G>C | CA425354860 | ASXL2 | c.3912C>G (p.Pro1304=) c.3915C>G (p.Pro1305=) c.3831C>G (p.Pro1277=) c.2364C>G (p.Pro788=) c.3549C>G (p.Pro1183=) c.3135C>G (p.Pro1045=) c.3741C>G (p.Pro1247=) c.4095C>G (p.Pro1365=) | |
2 | g.25742422G>T | CA425354861 | ASXL2 | c.3912C>A (p.Pro1304=) c.3915C>A (p.Pro1305=) c.3831C>A (p.Pro1277=) c.2364C>A (p.Pro788=) c.3549C>A (p.Pro1183=) c.3135C>A (p.Pro1045=) c.3741C>A (p.Pro1247=) c.4095C>A (p.Pro1365=) | |
2 | g.25742423G>A | CA43734277 | ASXL2 | c.3911C>T (p.Pro1304Leu) c.3914C>T (p.Pro1305Leu) c.3830C>T (p.Pro1277Leu) c.2363C>T (p.Pro788Leu) c.3548C>T (p.Pro1183Leu) c.3134C>T (p.Pro1045Leu) c.3740C>T (p.Pro1247Leu) c.4094C>T (p.Pro1365Leu) | dbSNP |
2 | g.25742423G>C | CA346075259 | ASXL2 | c.3911C>G (p.Pro1304Arg) c.3914C>G (p.Pro1305Arg) c.3830C>G (p.Pro1277Arg) c.2363C>G (p.Pro788Arg) c.3548C>G (p.Pro1183Arg) c.3134C>G (p.Pro1045Arg) c.3740C>G (p.Pro1247Arg) c.4094C>G (p.Pro1365Arg) | |
2 | g.25742423G= | CA1239490461 | ASXL2 | c.3911C= (p.Pro1304=) c.3914C= (p.Pro1305=) c.3830C= (p.Pro1277=) c.2363C= (p.Pro788=) c.3548C= (p.Pro1183=) c.3134C= (p.Pro1045=) c.3740C= (p.Pro1247=) c.4094C= (p.Pro1365=) | |
2 | g.25742423G>T | CA346075261 | ASXL2 | c.3911C>A (p.Pro1304His) c.3914C>A (p.Pro1305His) c.3830C>A (p.Pro1277His) c.2363C>A (p.Pro788His) c.3548C>A (p.Pro1183His) c.3134C>A (p.Pro1045His) c.3740C>A (p.Pro1247His) c.4094C>A (p.Pro1365His) | gnomAD v4 |
2 | g.25742424G>A | CA346075266 | ASXL2 | c.3910C>T (p.Pro1304Ser) c.3913C>T (p.Pro1305Ser) c.3829C>T (p.Pro1277Ser) c.2362C>T (p.Pro788Ser) c.3547C>T (p.Pro1183Ser) c.3133C>T (p.Pro1045Ser) c.3739C>T (p.Pro1247Ser) c.4093C>T (p.Pro1365Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25742424G>C | CA346075268 | ASXL2 | c.3910C>G (p.Pro1304Ala) c.3913C>G (p.Pro1305Ala) c.3829C>G (p.Pro1277Ala) c.2362C>G (p.Pro788Ala) c.3547C>G (p.Pro1183Ala) c.3133C>G (p.Pro1045Ala) c.3739C>G (p.Pro1247Ala) c.4093C>G (p.Pro1365Ala) | |
2 | g.25742424G= | CA1239490462 | ASXL2 | c.3910C= (p.Pro1304=) c.3913C= (p.Pro1305=) c.3829C= (p.Pro1277=) c.2362C= (p.Pro788=) c.3547C= (p.Pro1183=) c.3133C= (p.Pro1045=) c.3739C= (p.Pro1247=) c.4093C= (p.Pro1365=) | |
2 | g.25742424G>T | CA346075271 | ASXL2 | c.3910C>A (p.Pro1304Thr) c.3913C>A (p.Pro1305Thr) c.3829C>A (p.Pro1277Thr) c.2362C>A (p.Pro788Thr) c.3547C>A (p.Pro1183Thr) c.3133C>A (p.Pro1045Thr) c.3739C>A (p.Pro1247Thr) c.4093C>A (p.Pro1365Thr) | gnomAD v4 |
2 | g.25742425C>A | CA1557398 | ASXL2 | c.3909G>T (p.Gln1303His) c.3912G>T (p.Gln1304His) c.3828G>T (p.Gln1276His) c.2361G>T (p.Gln787His) c.3546G>T (p.Gln1182His) c.3132G>T (p.Gln1044His) c.3738G>T (p.Gln1246His) c.4092G>T (p.Gln1364His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25742425C= | CA1239490463 | ASXL2 | c.3909G= (p.Gln1303=) c.3912G= (p.Gln1304=) c.3828G= (p.Gln1276=) c.2361G= (p.Gln787=) c.3546G= (p.Gln1182=) c.3132G= (p.Gln1044=) c.3738G= (p.Gln1246=) c.4092G= (p.Gln1364=) | |
2 | g.25742425C>G | CA346075276 | ASXL2 | c.3909G>C (p.Gln1303His) c.3912G>C (p.Gln1304His) c.3828G>C (p.Gln1276His) c.2361G>C (p.Gln787His) c.3546G>C (p.Gln1182His) c.3132G>C (p.Gln1044His) c.3738G>C (p.Gln1246His) c.4092G>C (p.Gln1364His) | gnomAD v4 |
2 | g.25742425C>T | CA425354871 | ASXL2 | c.3909G>A (p.Gln1303=) c.3912G>A (p.Gln1304=) c.3828G>A (p.Gln1276=) c.2361G>A (p.Gln787=) c.3546G>A (p.Gln1182=) c.3132G>A (p.Gln1044=) c.3738G>A (p.Gln1246=) c.4092G>A (p.Gln1364=) | gnomAD v3 gnomAD v4 |
2 | g.25742425_25742426del | CA2658189299 | ASXL2 | c.3908_3909del (p.Gln1303ProfsTer24) c.3911_3912del (p.Gln1304ProfsTer24) c.3827_3828del (p.Gln1276ProfsTer24) c.2360_2361del (p.Gln787ProfsTer24) c.3545_3546del (p.Gln1182ProfsTer24) c.3131_3132del (p.Gln1044ProfsTer24) c.3737_3738del (p.Gln1246ProfsTer24) c.4091_4092del (p.Gln1364ProfsTer24) | gnomAD v4 |
2 | g.25742425_25742429del | CA2594414443 | ASXL2 | c.3905_3909del (p.His1302ProfsTer24) c.3908_3912del (p.His1303ProfsTer24) c.3824_3828del (p.His1275ProfsTer24) c.2357_2361del (p.His786ProfsTer24) c.3542_3546del (p.His1181ProfsTer24) c.3128_3132del (p.His1043ProfsTer24) c.3734_3738del (p.His1245ProfsTer24) c.4088_4092del (p.His1363ProfsTer24) | gnomAD v3 gnomAD v4 |
2 | g.25742426T>A | CA346075279 | ASXL2 | c.3908A>T (p.Gln1303Leu) c.3911A>T (p.Gln1304Leu) c.3827A>T (p.Gln1276Leu) c.2360A>T (p.Gln787Leu) c.3545A>T (p.Gln1182Leu) c.3131A>T (p.Gln1044Leu) c.3737A>T (p.Gln1246Leu) c.4091A>T (p.Gln1364Leu) | |
2 | g.25742426T>C | CA346075282 | ASXL2 | c.3908A>G (p.Gln1303Arg) c.3911A>G (p.Gln1304Arg) c.3827A>G (p.Gln1276Arg) c.2360A>G (p.Gln787Arg) c.3545A>G (p.Gln1182Arg) c.3131A>G (p.Gln1044Arg) c.3737A>G (p.Gln1246Arg) c.4091A>G (p.Gln1364Arg) | |
2 | g.25742426T>G | CA346075281 | ASXL2 | c.3908A>C (p.Gln1303Pro) c.3911A>C (p.Gln1304Pro) c.3827A>C (p.Gln1276Pro) c.2360A>C (p.Gln787Pro) c.3545A>C (p.Gln1182Pro) c.3131A>C (p.Gln1044Pro) c.3737A>C (p.Gln1246Pro) c.4091A>C (p.Gln1364Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25742426T= | CA1239490464 | ASXL2 | c.3908A= (p.Gln1303=) c.3911A= (p.Gln1304=) c.3827A= (p.Gln1276=) c.2360A= (p.Gln787=) c.3545A= (p.Gln1182=) c.3131A= (p.Gln1044=) c.3737A= (p.Gln1246=) c.4091A= (p.Gln1364=) | |
2 | g.25742427G>A | CA346075286 | ASXL2 | c.3907C>T (p.Gln1303Ter) c.3910C>T (p.Gln1304Ter) c.3826C>T (p.Gln1276Ter) c.2359C>T (p.Gln787Ter) c.3544C>T (p.Gln1182Ter) c.3130C>T (p.Gln1044Ter) c.3736C>T (p.Gln1246Ter) c.4090C>T (p.Gln1364Ter) | |
2 | g.25742427G>C | CA346075288 | ASXL2 | c.3907C>G (p.Gln1303Glu) c.3910C>G (p.Gln1304Glu) c.3826C>G (p.Gln1276Glu) c.2359C>G (p.Gln787Glu) c.3544C>G (p.Gln1182Glu) c.3130C>G (p.Gln1044Glu) c.3736C>G (p.Gln1246Glu) c.4090C>G (p.Gln1364Glu) | |
2 | g.25742427G>T | CA346075292 | ASXL2 | c.3907C>A (p.Gln1303Lys) c.3910C>A (p.Gln1304Lys) c.3826C>A (p.Gln1276Lys) c.2359C>A (p.Gln787Lys) c.3544C>A (p.Gln1182Lys) c.3130C>A (p.Gln1044Lys) c.3736C>A (p.Gln1246Lys) c.4090C>A (p.Gln1364Lys) | gnomAD v4 |
2 | g.25742428del | CA2658189300 | ASXL2 | c.3907del (p.Gln1303SerfsTer20) c.3910del (p.Gln1304SerfsTer20) c.3826del (p.Gln1276SerfsTer20) c.2359del (p.Gln787SerfsTer20) c.3544del (p.Gln1182SerfsTer20) c.3130del (p.Gln1044SerfsTer20) c.3736del (p.Gln1246SerfsTer20) c.4090del (p.Gln1364SerfsTer20) | gnomAD v4 |
2 | g.25742433_25742436del | CA2658189301 | ASXL2 | c.3904_3907del (p.His1302SerfsTer20) c.3907_3910del (p.His1303SerfsTer20) c.3823_3826del (p.His1275SerfsTer20) c.2356_2359del (p.His786SerfsTer20) c.3541_3544del (p.His1181SerfsTer20) c.3127_3130del (p.His1043SerfsTer20) c.3733_3736del (p.His1245SerfsTer20) c.4087_4090del (p.His1363SerfsTer20) | gnomAD v4 |
2 | g.25742428G>A | CA1557399 | ASXL2 | c.3906C>T (p.His1302=) c.3909C>T (p.His1303=) c.3825C>T (p.His1275=) c.2358C>T (p.His786=) c.3543C>T (p.His1181=) c.3129C>T (p.His1043=) c.3735C>T (p.His1245=) c.4089C>T (p.His1363=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742428G>C | CA346075297 | ASXL2 | c.3906C>G (p.His1302Gln) c.3909C>G (p.His1303Gln) c.3825C>G (p.His1275Gln) c.2358C>G (p.His786Gln) c.3543C>G (p.His1181Gln) c.3129C>G (p.His1043Gln) c.3735C>G (p.His1245Gln) c.4089C>G (p.His1363Gln) | |
2 | g.25742428G= | CA1239490465 | ASXL2 | c.3906C= (p.His1302=) c.3909C= (p.His1303=) c.3825C= (p.His1275=) c.2358C= (p.His786=) c.3543C= (p.His1181=) c.3129C= (p.His1043=) c.3735C= (p.His1245=) c.4089C= (p.His1363=) | |
2 | g.25742428G>T | CA346075300 | ASXL2 | c.3906C>A (p.His1302Gln) c.3909C>A (p.His1303Gln) c.3825C>A (p.His1275Gln) c.2358C>A (p.His786Gln) c.3543C>A (p.His1181Gln) c.3129C>A (p.His1043Gln) c.3735C>A (p.His1245Gln) c.4089C>A (p.His1363Gln) | gnomAD v4 |
2 | g.25742429T>A | CA346075303 | ASXL2 | c.3905A>T (p.His1302Leu) c.3908A>T (p.His1303Leu) c.3824A>T (p.His1275Leu) c.2357A>T (p.His786Leu) c.3542A>T (p.His1181Leu) c.3128A>T (p.His1043Leu) c.3734A>T (p.His1245Leu) c.4088A>T (p.His1363Leu) | |
2 | g.25742429T>C | CA346075304 | ASXL2 | c.3905A>G (p.His1302Arg) c.3908A>G (p.His1303Arg) c.3824A>G (p.His1275Arg) c.2357A>G (p.His786Arg) c.3542A>G (p.His1181Arg) c.3128A>G (p.His1043Arg) c.3734A>G (p.His1245Arg) c.4088A>G (p.His1363Arg) | gnomAD v4 |
2 | g.25742429T>G | CA346075306 | ASXL2 | c.3905A>C (p.His1302Pro) c.3908A>C (p.His1303Pro) c.3824A>C (p.His1275Pro) c.2357A>C (p.His786Pro) c.3542A>C (p.His1181Pro) c.3128A>C (p.His1043Pro) c.3734A>C (p.His1245Pro) c.4088A>C (p.His1363Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742429T= | CA1239490466 | ASXL2 | c.3905A= (p.His1302=) c.3908A= (p.His1303=) c.3824A= (p.His1275=) c.2357A= (p.His786=) c.3542A= (p.His1181=) c.3128A= (p.His1043=) c.3734A= (p.His1245=) c.4088A= (p.His1363=) | |
2 | g.25742430G>A | CA346075311 | ASXL2 | c.3904C>T (p.His1302Tyr) c.3907C>T (p.His1303Tyr) c.3823C>T (p.His1275Tyr) c.2356C>T (p.His786Tyr) c.3541C>T (p.His1181Tyr) c.3127C>T (p.His1043Tyr) c.3733C>T (p.His1245Tyr) c.4087C>T (p.His1363Tyr) | gnomAD v4 |
2 | g.25742430G>C | CA346075313 | ASXL2 | c.3904C>G (p.His1302Asp) c.3907C>G (p.His1303Asp) c.3823C>G (p.His1275Asp) c.2356C>G (p.His786Asp) c.3541C>G (p.His1181Asp) c.3127C>G (p.His1043Asp) c.3733C>G (p.His1245Asp) c.4087C>G (p.His1363Asp) | |
2 | g.25742430G>T | CA346075315 | ASXL2 | c.3904C>A (p.His1302Asn) c.3907C>A (p.His1303Asn) c.3823C>A (p.His1275Asn) c.2356C>A (p.His786Asn) c.3541C>A (p.His1181Asn) c.3127C>A (p.His1043Asn) c.3733C>A (p.His1245Asn) c.4087C>A (p.His1363Asn) | gnomAD v4 |
2 | g.25742432del | CA2658189302 | ASXL2 | c.3904del (p.His1302ThrfsTer21) c.3907del (p.His1303ThrfsTer21) c.3823del (p.His1275ThrfsTer21) c.2356del (p.His786ThrfsTer21) c.3541del (p.His1181ThrfsTer21) c.3127del (p.His1043ThrfsTer21) c.3733del (p.His1245ThrfsTer21) c.4087del (p.His1363ThrfsTer21) | gnomAD v4 |
2 | g.25742431G>A | CA425354889 | ASXL2 | c.3903C>T (p.Thr1301=) c.3906C>T (p.Thr1302=) c.3822C>T (p.Thr1274=) c.2355C>T (p.Thr785=) c.3540C>T (p.Thr1180=) c.3126C>T (p.Thr1042=) c.3732C>T (p.Thr1244=) c.4086C>T (p.Thr1362=) | gnomAD v4 |
2 | g.25742431G>C | CA425354890 | ASXL2 | c.3903C>G (p.Thr1301=) c.3906C>G (p.Thr1302=) c.3822C>G (p.Thr1274=) c.2355C>G (p.Thr785=) c.3540C>G (p.Thr1180=) c.3126C>G (p.Thr1042=) c.3732C>G (p.Thr1244=) c.4086C>G (p.Thr1362=) | gnomAD v4 |
2 | g.25742431G= | CA1239490467 | ASXL2 | c.3903C= (p.Thr1301=) c.3906C= (p.Thr1302=) c.3822C= (p.Thr1274=) c.2355C= (p.Thr785=) c.3540C= (p.Thr1180=) c.3126C= (p.Thr1042=) c.3732C= (p.Thr1244=) c.4086C= (p.Thr1362=) | |
2 | g.25742431G>T | CA425354891 | ASXL2 | c.3903C>A (p.Thr1301=) c.3906C>A (p.Thr1302=) c.3822C>A (p.Thr1274=) c.2355C>A (p.Thr785=) c.3540C>A (p.Thr1180=) c.3126C>A (p.Thr1042=) c.3732C>A (p.Thr1244=) c.4086C>A (p.Thr1362=) | dbSNP gnomAD v4 |
2 | g.25742432G>A | CA346075322 | ASXL2 | c.3902C>T (p.Thr1301Ile) c.3905C>T (p.Thr1302Ile) c.3821C>T (p.Thr1274Ile) c.2354C>T (p.Thr785Ile) c.3539C>T (p.Thr1180Ile) c.3125C>T (p.Thr1042Ile) c.3731C>T (p.Thr1244Ile) c.4085C>T (p.Thr1362Ile) | |
2 | g.25742432G>C | CA346075324 | ASXL2 | c.3902C>G (p.Thr1301Ser) c.3905C>G (p.Thr1302Ser) c.3821C>G (p.Thr1274Ser) c.2354C>G (p.Thr785Ser) c.3539C>G (p.Thr1180Ser) c.3125C>G (p.Thr1042Ser) c.3731C>G (p.Thr1244Ser) c.4085C>G (p.Thr1362Ser) | |
2 | g.25742432G>T | CA346075318 | ASXL2 | c.3902C>A (p.Thr1301Asn) c.3905C>A (p.Thr1302Asn) c.3821C>A (p.Thr1274Asn) c.2354C>A (p.Thr785Asn) c.3539C>A (p.Thr1180Asn) c.3125C>A (p.Thr1042Asn) c.3731C>A (p.Thr1244Asn) c.4085C>A (p.Thr1362Asn) | gnomAD v4 |
2 | g.25742433T>A | CA346075326 | ASXL2 | c.3901A>T (p.Thr1301Ser) c.3904A>T (p.Thr1302Ser) c.3820A>T (p.Thr1274Ser) c.2353A>T (p.Thr785Ser) c.3538A>T (p.Thr1180Ser) c.3124A>T (p.Thr1042Ser) c.3730A>T (p.Thr1244Ser) c.4084A>T (p.Thr1362Ser) | |
2 | g.25742433T>C | CA346075329 | ASXL2 | c.3901A>G (p.Thr1301Ala) c.3904A>G (p.Thr1302Ala) c.3820A>G (p.Thr1274Ala) c.2353A>G (p.Thr785Ala) c.3538A>G (p.Thr1180Ala) c.3124A>G (p.Thr1042Ala) c.3730A>G (p.Thr1244Ala) c.4084A>G (p.Thr1362Ala) | ClinVar gnomAD v4 |
2 | g.25742433T>G | CA1557400 | ASXL2 | c.3901A>C (p.Thr1301Pro) c.3904A>C (p.Thr1302Pro) c.3820A>C (p.Thr1274Pro) c.2353A>C (p.Thr785Pro) c.3538A>C (p.Thr1180Pro) c.3124A>C (p.Thr1042Pro) c.3730A>C (p.Thr1244Pro) c.4084A>C (p.Thr1362Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742433T= | CA1239490468 | ASXL2 | c.3901A= (p.Thr1301=) c.3904A= (p.Thr1302=) c.3820A= (p.Thr1274=) c.2353A= (p.Thr785=) c.3538A= (p.Thr1180=) c.3124A= (p.Thr1042=) c.3730A= (p.Thr1244=) c.4084A= (p.Thr1362=) | |
2 | g.25742434G>A | CA425354902 | ASXL2 | c.3900C>T (p.Pro1300=) c.3903C>T (p.Pro1301=) c.3819C>T (p.Pro1273=) c.2352C>T (p.Pro784=) c.3537C>T (p.Pro1179=) c.3123C>T (p.Pro1041=) c.3729C>T (p.Pro1243=) c.4083C>T (p.Pro1361=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25742434G>C | CA425354906 | ASXL2 | c.3900C>G (p.Pro1300=) c.3903C>G (p.Pro1301=) c.3819C>G (p.Pro1273=) c.2352C>G (p.Pro784=) c.3537C>G (p.Pro1179=) c.3123C>G (p.Pro1041=) c.3729C>G (p.Pro1243=) c.4083C>G (p.Pro1361=) | |
2 | g.25742434G= | CA1239490469 | ASXL2 | c.3900C= (p.Pro1300=) c.3903C= (p.Pro1301=) c.3819C= (p.Pro1273=) c.2352C= (p.Pro784=) c.3537C= (p.Pro1179=) c.3123C= (p.Pro1041=) c.3729C= (p.Pro1243=) c.4083C= (p.Pro1361=) | |
2 | g.25742434G>T | CA425354907 | ASXL2 | c.3900C>A (p.Pro1300=) c.3903C>A (p.Pro1301=) c.3819C>A (p.Pro1273=) c.2352C>A (p.Pro784=) c.3537C>A (p.Pro1179=) c.3123C>A (p.Pro1041=) c.3729C>A (p.Pro1243=) c.4083C>A (p.Pro1361=) | |
2 | g.25742435G>A | CA43734282 | ASXL2 | c.3899C>T (p.Pro1300Leu) c.3902C>T (p.Pro1301Leu) c.3818C>T (p.Pro1273Leu) c.2351C>T (p.Pro784Leu) c.3536C>T (p.Pro1179Leu) c.3122C>T (p.Pro1041Leu) c.3728C>T (p.Pro1243Leu) c.4082C>T (p.Pro1361Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25742435G>C | CA346075335 | ASXL2 | c.3899C>G (p.Pro1300Arg) c.3902C>G (p.Pro1301Arg) c.3818C>G (p.Pro1273Arg) c.2351C>G (p.Pro784Arg) c.3536C>G (p.Pro1179Arg) c.3122C>G (p.Pro1041Arg) c.3728C>G (p.Pro1243Arg) c.4082C>G (p.Pro1361Arg) | |
2 | g.25742435G= | CA1239490470 | ASXL2 | c.3899C= (p.Pro1300=) c.3902C= (p.Pro1301=) c.3818C= (p.Pro1273=) c.2351C= (p.Pro784=) c.3536C= (p.Pro1179=) c.3122C= (p.Pro1041=) c.3728C= (p.Pro1243=) c.4082C= (p.Pro1361=) | |
2 | g.25742435G>T | CA346075338 | ASXL2 | c.3899C>A (p.Pro1300His) c.3902C>A (p.Pro1301His) c.3818C>A (p.Pro1273His) c.2351C>A (p.Pro784His) c.3536C>A (p.Pro1179His) c.3122C>A (p.Pro1041His) c.3728C>A (p.Pro1243His) c.4082C>A (p.Pro1361His) | gnomAD v4 |
2 | g.25742436G>A | CA43734285 | ASXL2 | c.3898C>T (p.Pro1300Ser) c.3901C>T (p.Pro1301Ser) c.3817C>T (p.Pro1273Ser) c.2350C>T (p.Pro784Ser) c.3535C>T (p.Pro1179Ser) c.3121C>T (p.Pro1041Ser) c.3727C>T (p.Pro1243Ser) c.4081C>T (p.Pro1361Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742436G>C | CA346075341 | ASXL2 | c.3898C>G (p.Pro1300Ala) c.3901C>G (p.Pro1301Ala) c.3817C>G (p.Pro1273Ala) c.2350C>G (p.Pro784Ala) c.3535C>G (p.Pro1179Ala) c.3121C>G (p.Pro1041Ala) c.3727C>G (p.Pro1243Ala) c.4081C>G (p.Pro1361Ala) | gnomAD v4 |
2 | g.25742436G= | CA1239490471 | ASXL2 | c.3898C= (p.Pro1300=) c.3901C= (p.Pro1301=) c.3817C= (p.Pro1273=) c.2350C= (p.Pro784=) c.3535C= (p.Pro1179=) c.3121C= (p.Pro1041=) c.3727C= (p.Pro1243=) c.4081C= (p.Pro1361=) | |
2 | g.25742436G>T | CA1557401 | ASXL2 | c.3898C>A (p.Pro1300Thr) c.3901C>A (p.Pro1301Thr) c.3817C>A (p.Pro1273Thr) c.2350C>A (p.Pro784Thr) c.3535C>A (p.Pro1179Thr) c.3121C>A (p.Pro1041Thr) c.3727C>A (p.Pro1243Thr) c.4081C>A (p.Pro1361Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25742437G>A | CA1557402 | ASXL2 | c.3897C>T (p.Ser1299=) c.3900C>T (p.Ser1300=) c.3816C>T (p.Ser1272=) c.2349C>T (p.Ser783=) c.3534C>T (p.Ser1178=) c.3120C>T (p.Ser1040=) c.3726C>T (p.Ser1242=) c.4080C>T (p.Ser1360=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25742437G>C | CA346075356 | ASXL2 | c.3897C>G (p.Ser1299Arg) c.3900C>G (p.Ser1300Arg) c.3816C>G (p.Ser1272Arg) c.2349C>G (p.Ser783Arg) c.3534C>G (p.Ser1178Arg) c.3120C>G (p.Ser1040Arg) c.3726C>G (p.Ser1242Arg) c.4080C>G (p.Ser1360Arg) | gnomAD v4 |
2 | g.25742437G= | CA1239490472 | ASXL2 | c.3897C= (p.Ser1299=) c.3900C= (p.Ser1300=) c.3816C= (p.Ser1272=) c.2349C= (p.Ser783=) c.3534C= (p.Ser1178=) c.3120C= (p.Ser1040=) c.3726C= (p.Ser1242=) c.4080C= (p.Ser1360=) | |
2 | g.25742437G>T | CA346075358 | ASXL2 | c.3897C>A (p.Ser1299Arg) c.3900C>A (p.Ser1300Arg) c.3816C>A (p.Ser1272Arg) c.2349C>A (p.Ser783Arg) c.3534C>A (p.Ser1178Arg) c.3120C>A (p.Ser1040Arg) c.3726C>A (p.Ser1242Arg) c.4080C>A (p.Ser1360Arg) | gnomAD v4 |
2 | g.25742437_25742438insGGCC | CA2576695355 | ASXL2 | c.3896_3897insGGCC (p.Ser1299ArgfsTer30) c.3899_3900insGGCC (p.Ser1300ArgfsTer30) c.3815_3816insGGCC (p.Ser1272ArgfsTer30) c.2348_2349insGGCC (p.Ser783ArgfsTer30) c.3533_3534insGGCC (p.Ser1178ArgfsTer30) c.3119_3120insGGCC (p.Ser1040ArgfsTer30) c.3725_3726insGGCC (p.Ser1242ArgfsTer30) c.4079_4080insGGCC (p.Ser1360ArgfsTer30) | |
2 | g.25742437_25742438insGGGC | CA2576695354 | ASXL2 | c.3896_3897insGCCC (p.Ser1299ArgfsTer30) c.3899_3900insGCCC (p.Ser1300ArgfsTer30) c.3815_3816insGCCC (p.Ser1272ArgfsTer30) c.2348_2349insGCCC (p.Ser783ArgfsTer30) c.3533_3534insGCCC (p.Ser1178ArgfsTer30) c.3119_3120insGCCC (p.Ser1040ArgfsTer30) c.3725_3726insGCCC (p.Ser1242ArgfsTer30) c.4079_4080insGCCC (p.Ser1360ArgfsTer30) | |
2 | g.25742438C>A | CA346075362 | ASXL2 | c.3896G>T (p.Ser1299Ile) c.3899G>T (p.Ser1300Ile) c.3815G>T (p.Ser1272Ile) c.2348G>T (p.Ser783Ile) c.3533G>T (p.Ser1178Ile) c.3119G>T (p.Ser1040Ile) c.3725G>T (p.Ser1242Ile) c.4079G>T (p.Ser1360Ile) | |
2 | g.25742438C>G | CA346075364 | ASXL2 | c.3896G>C (p.Ser1299Thr) c.3899G>C (p.Ser1300Thr) c.3815G>C (p.Ser1272Thr) c.2348G>C (p.Ser783Thr) c.3533G>C (p.Ser1178Thr) c.3119G>C (p.Ser1040Thr) c.3725G>C (p.Ser1242Thr) c.4079G>C (p.Ser1360Thr) | |
2 | g.25742438C>T | CA346075367 | ASXL2 | c.3896G>A (p.Ser1299Asn) c.3899G>A (p.Ser1300Asn) c.3815G>A (p.Ser1272Asn) c.2348G>A (p.Ser783Asn) c.3533G>A (p.Ser1178Asn) c.3119G>A (p.Ser1040Asn) c.3725G>A (p.Ser1242Asn) c.4079G>A (p.Ser1360Asn) | COSMIC COSMIC |
2 | g.25742438_25742439insCC | CA2576695356 | ASXL2 | c.3896_3897insGG (p.Ser1299ArgfsTer25) c.3899_3900insGG (p.Ser1300ArgfsTer25) c.3815_3816insGG (p.Ser1272ArgfsTer25) c.2348_2349insGG (p.Ser783ArgfsTer25) c.3533_3534insGG (p.Ser1178ArgfsTer25) c.3119_3120insGG (p.Ser1040ArgfsTer25) c.3725_3726insGG (p.Ser1242ArgfsTer25) c.4079_4080insGG (p.Ser1360ArgfsTer25) | |
2 | g.25742438dup | CA2576695357 | ASXL2 | c.3896dup (p.Ser1299ArgfsTer29) c.3899dup (p.Ser1300ArgfsTer29) c.3815dup (p.Ser1272ArgfsTer29) c.2348dup (p.Ser783ArgfsTer29) c.3533dup (p.Ser1178ArgfsTer29) c.3119dup (p.Ser1040ArgfsTer29) c.3725dup (p.Ser1242ArgfsTer29) c.4079dup (p.Ser1360ArgfsTer29) | |
2 | g.25742439T>A | CA346075371 | ASXL2 | c.3895A>T (p.Ser1299Cys) c.3898A>T (p.Ser1300Cys) c.3814A>T (p.Ser1272Cys) c.2347A>T (p.Ser783Cys) c.3532A>T (p.Ser1178Cys) c.3118A>T (p.Ser1040Cys) c.3724A>T (p.Ser1242Cys) c.4078A>T (p.Ser1360Cys) | |
2 | g.25742439T>C | CA346075377 | ASXL2 | c.3895A>G (p.Ser1299Gly) c.3898A>G (p.Ser1300Gly) c.3814A>G (p.Ser1272Gly) c.2347A>G (p.Ser783Gly) c.3532A>G (p.Ser1178Gly) c.3118A>G (p.Ser1040Gly) c.3724A>G (p.Ser1242Gly) c.4078A>G (p.Ser1360Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25742439T>G | CA346075373 | ASXL2 | c.3895A>C (p.Ser1299Arg) c.3898A>C (p.Ser1300Arg) c.3814A>C (p.Ser1272Arg) c.2347A>C (p.Ser783Arg) c.3532A>C (p.Ser1178Arg) c.3118A>C (p.Ser1040Arg) c.3724A>C (p.Ser1242Arg) c.4078A>C (p.Ser1360Arg) | |
2 | g.25742439T= | CA1239490473 | ASXL2 | c.3895A= (p.Ser1299=) c.3898A= (p.Ser1300=) c.3814A= (p.Ser1272=) c.2347A= (p.Ser783=) c.3532A= (p.Ser1178=) c.3118A= (p.Ser1040=) c.3724A= (p.Ser1242=) c.4078A= (p.Ser1360=) | |
2 | g.25742439_25742440insAGATCGGAAGAGC | CA2533243214 | ASXL2 | c.3894_3895insGCTCTTCCGATCT (p.Ser1299AlafsTer5) c.3897_3898insGCTCTTCCGATCT (p.Ser1300AlafsTer5) c.3813_3814insGCTCTTCCGATCT (p.Ser1272AlafsTer5) c.2346_2347insGCTCTTCCGATCT (p.Ser783AlafsTer5) c.3531_3532insGCTCTTCCGATCT (p.Ser1178AlafsTer5) c.3117_3118insGCTCTTCCGATCT (p.Ser1040AlafsTer5) c.3723_3724insGCTCTTCCGATCT (p.Ser1242AlafsTer5) c.4077_4078insGCTCTTCCGATCT (p.Ser1360AlafsTer5) | |
2 | g.25742440G>A | CA425354920 | ASXL2 | c.3894C>T (p.Asp1298=) c.3897C>T (p.Asp1299=) c.3813C>T (p.Asp1271=) c.2346C>T (p.Asp782=) c.3531C>T (p.Asp1177=) c.3117C>T (p.Asp1039=) c.3723C>T (p.Asp1241=) c.4077C>T (p.Asp1359=) | gnomAD v4 |
2 | g.25742440G>C | CA346075379 | ASXL2 | c.3894C>G (p.Asp1298Glu) c.3897C>G (p.Asp1299Glu) c.3813C>G (p.Asp1271Glu) c.2346C>G (p.Asp782Glu) c.3531C>G (p.Asp1177Glu) c.3117C>G (p.Asp1039Glu) c.3723C>G (p.Asp1241Glu) c.4077C>G (p.Asp1359Glu) | |
2 | g.25742440G>T | CA346075381 | ASXL2 | c.3894C>A (p.Asp1298Glu) c.3897C>A (p.Asp1299Glu) c.3813C>A (p.Asp1271Glu) c.2346C>A (p.Asp782Glu) c.3531C>A (p.Asp1177Glu) c.3117C>A (p.Asp1039Glu) c.3723C>A (p.Asp1241Glu) c.4077C>A (p.Asp1359Glu) | |
2 | g.25742441T>A | CA346075383 | ASXL2 | c.3893A>T (p.Asp1298Val) c.3896A>T (p.Asp1299Val) c.3812A>T (p.Asp1271Val) c.2345A>T (p.Asp782Val) c.3530A>T (p.Asp1177Val) c.3116A>T (p.Asp1039Val) c.3722A>T (p.Asp1241Val) c.4076A>T (p.Asp1359Val) | |
2 | g.25742441T>C | CA1557403 | ASXL2 | c.3893A>G (p.Asp1298Gly) c.3896A>G (p.Asp1299Gly) c.3812A>G (p.Asp1271Gly) c.2345A>G (p.Asp782Gly) c.3530A>G (p.Asp1177Gly) c.3116A>G (p.Asp1039Gly) c.3722A>G (p.Asp1241Gly) c.4076A>G (p.Asp1359Gly) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.25742441T>G | CA346075388 | ASXL2 | c.3893A>C (p.Asp1298Ala) c.3896A>C (p.Asp1299Ala) c.3812A>C (p.Asp1271Ala) c.2345A>C (p.Asp782Ala) c.3530A>C (p.Asp1177Ala) c.3116A>C (p.Asp1039Ala) c.3722A>C (p.Asp1241Ala) c.4076A>C (p.Asp1359Ala) | |
2 | g.25742441T= | CA1239490474 | ASXL2 | c.3893A= (p.Asp1298=) c.3896A= (p.Asp1299=) c.3812A= (p.Asp1271=) c.2345A= (p.Asp782=) c.3530A= (p.Asp1177=) c.3116A= (p.Asp1039=) c.3722A= (p.Asp1241=) c.4076A= (p.Asp1359=) | |
2 | g.25742442C>A | CA346075393 | ASXL2 | c.3892G>T (p.Asp1298Tyr) c.3895G>T (p.Asp1299Tyr) c.3811G>T (p.Asp1271Tyr) c.2344G>T (p.Asp782Tyr) c.3529G>T (p.Asp1177Tyr) c.3115G>T (p.Asp1039Tyr) c.3721G>T (p.Asp1241Tyr) c.4075G>T (p.Asp1359Tyr) | |
2 | g.25742442C>G | CA346075395 | ASXL2 | c.3892G>C (p.Asp1298His) c.3895G>C (p.Asp1299His) c.3811G>C (p.Asp1271His) c.2344G>C (p.Asp782His) c.3529G>C (p.Asp1177His) c.3115G>C (p.Asp1039His) c.3721G>C (p.Asp1241His) c.4075G>C (p.Asp1359His) | |
2 | g.25742442C>T | CA346075396 | ASXL2 | c.3892G>A (p.Asp1298Asn) c.3895G>A (p.Asp1299Asn) c.3811G>A (p.Asp1271Asn) c.2344G>A (p.Asp782Asn) c.3529G>A (p.Asp1177Asn) c.3115G>A (p.Asp1039Asn) c.3721G>A (p.Asp1241Asn) c.4075G>A (p.Asp1359Asn) | gnomAD v4 |
2 | g.25742443T>A | CA425354928 | ASXL2 | c.3891A>T (p.Ala1297=) c.3894A>T (p.Ala1298=) c.3810A>T (p.Ala1270=) c.2343A>T (p.Ala781=) c.3528A>T (p.Ala1176=) c.3114A>T (p.Ala1038=) c.3720A>T (p.Ala1240=) c.4074A>T (p.Ala1358=) | |
2 | g.25742443T>C | CA1557404 | ASXL2 | c.3891A>G (p.Ala1297=) c.3894A>G (p.Ala1298=) c.3810A>G (p.Ala1270=) c.2343A>G (p.Ala781=) c.3528A>G (p.Ala1176=) c.3114A>G (p.Ala1038=) c.3720A>G (p.Ala1240=) c.4074A>G (p.Ala1358=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742443T>G | CA425354929 | ASXL2 | c.3891A>C (p.Ala1297=) c.3894A>C (p.Ala1298=) c.3810A>C (p.Ala1270=) c.2343A>C (p.Ala781=) c.3528A>C (p.Ala1176=) c.3114A>C (p.Ala1038=) c.3720A>C (p.Ala1240=) c.4074A>C (p.Ala1358=) | |
2 | g.25742443T= | CA1239490475 | ASXL2 | c.3891A= (p.Ala1297=) c.3894A= (p.Ala1298=) c.3810A= (p.Ala1270=) c.2343A= (p.Ala781=) c.3528A= (p.Ala1176=) c.3114A= (p.Ala1038=) c.3720A= (p.Ala1240=) c.4074A= (p.Ala1358=) | |
2 | g.25742444G>A | CA346075398 | ASXL2 | c.3890C>T (p.Ala1297Val) c.3893C>T (p.Ala1298Val) c.3809C>T (p.Ala1270Val) c.2342C>T (p.Ala781Val) c.3527C>T (p.Ala1176Val) c.3113C>T (p.Ala1038Val) c.3719C>T (p.Ala1240Val) c.4073C>T (p.Ala1358Val) | gnomAD v4 |
2 | g.25742444G>C | CA346075400 | ASXL2 | c.3890C>G (p.Ala1297Gly) c.3893C>G (p.Ala1298Gly) c.3809C>G (p.Ala1270Gly) c.2342C>G (p.Ala781Gly) c.3527C>G (p.Ala1176Gly) c.3113C>G (p.Ala1038Gly) c.3719C>G (p.Ala1240Gly) c.4073C>G (p.Ala1358Gly) | |
2 | g.25742444G>T | CA346075397 | ASXL2 | c.3890C>A (p.Ala1297Glu) c.3893C>A (p.Ala1298Glu) c.3809C>A (p.Ala1270Glu) c.2342C>A (p.Ala781Glu) c.3527C>A (p.Ala1176Glu) c.3113C>A (p.Ala1038Glu) c.3719C>A (p.Ala1240Glu) c.4073C>A (p.Ala1358Glu) | gnomAD v4 |
2 | g.25742445C>A | CA346075402 | ASXL2 | c.3889G>T (p.Ala1297Ser) c.3892G>T (p.Ala1298Ser) c.3808G>T (p.Ala1270Ser) c.2341G>T (p.Ala781Ser) c.3526G>T (p.Ala1176Ser) c.3112G>T (p.Ala1038Ser) c.3718G>T (p.Ala1240Ser) c.4072G>T (p.Ala1358Ser) | |
2 | g.25742445C>G | CA346075405 | ASXL2 | c.3889G>C (p.Ala1297Pro) c.3892G>C (p.Ala1298Pro) c.3808G>C (p.Ala1270Pro) c.2341G>C (p.Ala781Pro) c.3526G>C (p.Ala1176Pro) c.3112G>C (p.Ala1038Pro) c.3718G>C (p.Ala1240Pro) c.4072G>C (p.Ala1358Pro) | ClinVar |
2 | g.25742445C>T | CA346075407 | ASXL2 | c.3889G>A (p.Ala1297Thr) c.3892G>A (p.Ala1298Thr) c.3808G>A (p.Ala1270Thr) c.2341G>A (p.Ala781Thr) c.3526G>A (p.Ala1176Thr) c.3112G>A (p.Ala1038Thr) c.3718G>A (p.Ala1240Thr) c.4072G>A (p.Ala1358Thr) | gnomAD v4 |
2 | g.25742446A= | CA1239490476 | ASXL2 | c.3888T= (p.Pro1296=) c.3891T= (p.Pro1297=) c.3807T= (p.Pro1269=) c.2340T= (p.Pro780=) c.3525T= (p.Pro1175=) c.3111T= (p.Pro1037=) c.3717T= (p.Pro1239=) c.4071T= (p.Pro1357=) | |
2 | g.25742446A>C | CA1557405 | ASXL2 | c.3888T>G (p.Pro1296=) c.3891T>G (p.Pro1297=) c.3807T>G (p.Pro1269=) c.2340T>G (p.Pro780=) c.3525T>G (p.Pro1175=) c.3111T>G (p.Pro1037=) c.3717T>G (p.Pro1239=) c.4071T>G (p.Pro1357=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25742446A>G | CA425354940 | ASXL2 | c.3888T>C (p.Pro1296=) c.3891T>C (p.Pro1297=) c.3807T>C (p.Pro1269=) c.2340T>C (p.Pro780=) c.3525T>C (p.Pro1175=) c.3111T>C (p.Pro1037=) c.3717T>C (p.Pro1239=) c.4071T>C (p.Pro1357=) | |
2 | g.25742446A>T | CA425354941 | ASXL2 | c.3888T>A (p.Pro1296=) c.3891T>A (p.Pro1297=) c.3807T>A (p.Pro1269=) c.2340T>A (p.Pro780=) c.3525T>A (p.Pro1175=) c.3111T>A (p.Pro1037=) c.3717T>A (p.Pro1239=) c.4071T>A (p.Pro1357=) | |
2 | g.25742447G>A | CA346075414 | ASXL2 | c.3887C>T (p.Pro1296Leu) c.3890C>T (p.Pro1297Leu) c.3806C>T (p.Pro1269Leu) c.2339C>T (p.Pro780Leu) c.3524C>T (p.Pro1175Leu) c.3110C>T (p.Pro1037Leu) c.3716C>T (p.Pro1239Leu) c.4070C>T (p.Pro1357Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742447G>C | CA346075416 | ASXL2 | c.3887C>G (p.Pro1296Arg) c.3890C>G (p.Pro1297Arg) c.3806C>G (p.Pro1269Arg) c.2339C>G (p.Pro780Arg) c.3524C>G (p.Pro1175Arg) c.3110C>G (p.Pro1037Arg) c.3716C>G (p.Pro1239Arg) c.4070C>G (p.Pro1357Arg) | |
2 | g.25742447G= | CA1239490477 | ASXL2 | c.3887C= (p.Pro1296=) c.3890C= (p.Pro1297=) c.3806C= (p.Pro1269=) c.2339C= (p.Pro780=) c.3524C= (p.Pro1175=) c.3110C= (p.Pro1037=) c.3716C= (p.Pro1239=) c.4070C= (p.Pro1357=) | |
2 | g.25742447G>T | CA346075418 | ASXL2 | c.3887C>A (p.Pro1296His) c.3890C>A (p.Pro1297His) c.3806C>A (p.Pro1269His) c.2339C>A (p.Pro780His) c.3524C>A (p.Pro1175His) c.3110C>A (p.Pro1037His) c.3716C>A (p.Pro1239His) c.4070C>A (p.Pro1357His) | ClinVar |
2 | g.25742448G>A | CA346075424 | ASXL2 | c.3886C>T (p.Pro1296Ser) c.3889C>T (p.Pro1297Ser) c.3805C>T (p.Pro1269Ser) c.2338C>T (p.Pro780Ser) c.3523C>T (p.Pro1175Ser) c.3109C>T (p.Pro1037Ser) c.3715C>T (p.Pro1239Ser) c.4069C>T (p.Pro1357Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25742448G>C | CA346075425 | ASXL2 | c.3886C>G (p.Pro1296Ala) c.3889C>G (p.Pro1297Ala) c.3805C>G (p.Pro1269Ala) c.2338C>G (p.Pro780Ala) c.3523C>G (p.Pro1175Ala) c.3109C>G (p.Pro1037Ala) c.3715C>G (p.Pro1239Ala) c.4069C>G (p.Pro1357Ala) | |
2 | g.25742448G= | CA1239490478 | ASXL2 | c.3886C= (p.Pro1296=) c.3889C= (p.Pro1297=) c.3805C= (p.Pro1269=) c.2338C= (p.Pro780=) c.3523C= (p.Pro1175=) c.3109C= (p.Pro1037=) c.3715C= (p.Pro1239=) c.4069C= (p.Pro1357=) | |
2 | g.25742448G>T | CA346075427 | ASXL2 | c.3886C>A (p.Pro1296Thr) c.3889C>A (p.Pro1297Thr) c.3805C>A (p.Pro1269Thr) c.2338C>A (p.Pro780Thr) c.3523C>A (p.Pro1175Thr) c.3109C>A (p.Pro1037Thr) c.3715C>A (p.Pro1239Thr) c.4069C>A (p.Pro1357Thr) | |
2 | g.25742449C>A | CA425354944 | ASXL2 | c.3885G>T (p.Leu1295=) c.3888G>T (p.Leu1296=) c.3804G>T (p.Leu1268=) c.2337G>T (p.Leu779=) c.3522G>T (p.Leu1174=) c.3108G>T (p.Leu1036=) c.3714G>T (p.Leu1238=) c.4068G>T (p.Leu1356=) | |
2 | g.25742449C>G | CA425354945 | ASXL2 | c.3885G>C (p.Leu1295=) c.3888G>C (p.Leu1296=) c.3804G>C (p.Leu1268=) c.2337G>C (p.Leu779=) c.3522G>C (p.Leu1174=) c.3108G>C (p.Leu1036=) c.3714G>C (p.Leu1238=) c.4068G>C (p.Leu1356=) | |
2 | g.25742449C>T | CA425354946 | ASXL2 | c.3885G>A (p.Leu1295=) c.3888G>A (p.Leu1296=) c.3804G>A (p.Leu1268=) c.2337G>A (p.Leu779=) c.3522G>A (p.Leu1174=) c.3108G>A (p.Leu1036=) c.3714G>A (p.Leu1238=) c.4068G>A (p.Leu1356=) | |
2 | g.25742450A>C | CA346075429 | ASXL2 | c.3884T>G (p.Leu1295Arg) c.3887T>G (p.Leu1296Arg) c.3803T>G (p.Leu1268Arg) c.2336T>G (p.Leu779Arg) c.3521T>G (p.Leu1174Arg) c.3107T>G (p.Leu1036Arg) c.3713T>G (p.Leu1238Arg) c.4067T>G (p.Leu1356Arg) | |
2 | g.25742450A>G | CA346075432 | ASXL2 | c.3884T>C (p.Leu1295Pro) c.3887T>C (p.Leu1296Pro) c.3803T>C (p.Leu1268Pro) c.2336T>C (p.Leu779Pro) c.3521T>C (p.Leu1174Pro) c.3107T>C (p.Leu1036Pro) c.3713T>C (p.Leu1238Pro) c.4067T>C (p.Leu1356Pro) | |
2 | g.25742450A>T | CA346075434 | ASXL2 | c.3884T>A (p.Leu1295Gln) c.3887T>A (p.Leu1296Gln) c.3803T>A (p.Leu1268Gln) c.2336T>A (p.Leu779Gln) c.3521T>A (p.Leu1174Gln) c.3107T>A (p.Leu1036Gln) c.3713T>A (p.Leu1238Gln) c.4067T>A (p.Leu1356Gln) | gnomAD v4 |
2 | g.25742451G>A | CA425354950 | ASXL2 | c.3883C>T (p.Leu1295=) c.3886C>T (p.Leu1296=) c.3802C>T (p.Leu1268=) c.2335C>T (p.Leu779=) c.3520C>T (p.Leu1174=) c.3106C>T (p.Leu1036=) c.3712C>T (p.Leu1238=) c.4066C>T (p.Leu1356=) | dbSNP |
2 | g.25742451G>C | CA346075441 | ASXL2 | c.3883C>G (p.Leu1295Val) c.3886C>G (p.Leu1296Val) c.3802C>G (p.Leu1268Val) c.2335C>G (p.Leu779Val) c.3520C>G (p.Leu1174Val) c.3106C>G (p.Leu1036Val) c.3712C>G (p.Leu1238Val) c.4066C>G (p.Leu1356Val) | |
2 | g.25742451G= | CA1239490479 | ASXL2 | c.3883C= (p.Leu1295=) c.3886C= (p.Leu1296=) c.3802C= (p.Leu1268=) c.2335C= (p.Leu779=) c.3520C= (p.Leu1174=) c.3106C= (p.Leu1036=) c.3712C= (p.Leu1238=) c.4066C= (p.Leu1356=) | |
2 | g.25742451G>T | CA346075439 | ASXL2 | c.3883C>A (p.Leu1295Met) c.3886C>A (p.Leu1296Met) c.3802C>A (p.Leu1268Met) c.2335C>A (p.Leu779Met) c.3520C>A (p.Leu1174Met) c.3106C>A (p.Leu1036Met) c.3712C>A (p.Leu1238Met) c.4066C>A (p.Leu1356Met) | |
2 | g.25742452A>C | CA425354954 | ASXL2 | c.3882T>G (p.Pro1294=) c.3885T>G (p.Pro1295=) c.3801T>G (p.Pro1267=) c.2334T>G (p.Pro778=) c.3519T>G (p.Pro1173=) c.3105T>G (p.Pro1035=) c.3711T>G (p.Pro1237=) c.4065T>G (p.Pro1355=) | |
2 | g.25742452A>G | CA425354952 | ASXL2 | c.3882T>C (p.Pro1294=) c.3885T>C (p.Pro1295=) c.3801T>C (p.Pro1267=) c.2334T>C (p.Pro778=) c.3519T>C (p.Pro1173=) c.3105T>C (p.Pro1035=) c.3711T>C (p.Pro1237=) c.4065T>C (p.Pro1355=) | |
2 | g.25742452A>T | CA425354953 | ASXL2 | c.3882T>A (p.Pro1294=) c.3885T>A (p.Pro1295=) c.3801T>A (p.Pro1267=) c.2334T>A (p.Pro778=) c.3519T>A (p.Pro1173=) c.3105T>A (p.Pro1035=) c.3711T>A (p.Pro1237=) c.4065T>A (p.Pro1355=) | |
2 | g.25742453G>A | CA346075444 | ASXL2 | c.3881C>T (p.Pro1294Leu) c.3884C>T (p.Pro1295Leu) c.3800C>T (p.Pro1267Leu) c.2333C>T (p.Pro778Leu) c.3518C>T (p.Pro1173Leu) c.3104C>T (p.Pro1035Leu) c.3710C>T (p.Pro1237Leu) c.4064C>T (p.Pro1355Leu) | gnomAD v4 |
2 | g.25742453G>C | CA346075446 | ASXL2 | c.3881C>G (p.Pro1294Arg) c.3884C>G (p.Pro1295Arg) c.3800C>G (p.Pro1267Arg) c.2333C>G (p.Pro778Arg) c.3518C>G (p.Pro1173Arg) c.3104C>G (p.Pro1035Arg) c.3710C>G (p.Pro1237Arg) c.4064C>G (p.Pro1355Arg) | |
2 | g.25742453G>T | CA346075450 | ASXL2 | c.3881C>A (p.Pro1294His) c.3884C>A (p.Pro1295His) c.3800C>A (p.Pro1267His) c.2333C>A (p.Pro778His) c.3518C>A (p.Pro1173His) c.3104C>A (p.Pro1035His) c.3710C>A (p.Pro1237His) c.4064C>A (p.Pro1355His) | |
2 | g.25742454G>A | CA346075454 | ASXL2 | c.3880C>T (p.Pro1294Ser) c.3883C>T (p.Pro1295Ser) c.3799C>T (p.Pro1267Ser) c.2332C>T (p.Pro778Ser) c.3517C>T (p.Pro1173Ser) c.3103C>T (p.Pro1035Ser) c.3709C>T (p.Pro1237Ser) c.4063C>T (p.Pro1355Ser) | gnomAD v4 |
2 | g.25742454G>C | CA346075456 | ASXL2 | c.3880C>G (p.Pro1294Ala) c.3883C>G (p.Pro1295Ala) c.3799C>G (p.Pro1267Ala) c.2332C>G (p.Pro778Ala) c.3517C>G (p.Pro1173Ala) c.3103C>G (p.Pro1035Ala) c.3709C>G (p.Pro1237Ala) c.4063C>G (p.Pro1355Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25742454G= | CA1239490480 | ASXL2 | c.3880C= (p.Pro1294=) c.3883C= (p.Pro1295=) c.3799C= (p.Pro1267=) c.2332C= (p.Pro778=) c.3517C= (p.Pro1173=) c.3103C= (p.Pro1035=) c.3709C= (p.Pro1237=) c.4063C= (p.Pro1355=) | |
2 | g.25742454G>T | CA346075460 | ASXL2 | c.3880C>A (p.Pro1294Thr) c.3883C>A (p.Pro1295Thr) c.3799C>A (p.Pro1267Thr) c.2332C>A (p.Pro778Thr) c.3517C>A (p.Pro1173Thr) c.3103C>A (p.Pro1035Thr) c.3709C>A (p.Pro1237Thr) c.4063C>A (p.Pro1355Thr) | |
2 | g.25742455A= | CA1239490481 | ASXL2 | c.3879T= (p.Leu1293=) c.3882T= (p.Leu1294=) c.3798T= (p.Leu1266=) c.2331T= (p.Leu777=) c.3516T= (p.Leu1172=) c.3102T= (p.Leu1034=) c.3708T= (p.Leu1236=) c.4062T= (p.Leu1354=) | |
2 | g.25742455A>C | CA425354959 | ASXL2 | c.3879T>G (p.Leu1293=) c.3882T>G (p.Leu1294=) c.3798T>G (p.Leu1266=) c.2331T>G (p.Leu777=) c.3516T>G (p.Leu1172=) c.3102T>G (p.Leu1034=) c.3708T>G (p.Leu1236=) c.4062T>G (p.Leu1354=) | |
2 | g.25742455A>G | CA425354964 | ASXL2 | c.3879T>C (p.Leu1293=) c.3882T>C (p.Leu1294=) c.3798T>C (p.Leu1266=) c.2331T>C (p.Leu777=) c.3516T>C (p.Leu1172=) c.3102T>C (p.Leu1034=) c.3708T>C (p.Leu1236=) c.4062T>C (p.Leu1354=) | |
2 | g.25742455A>T | CA1557406 | ASXL2 | c.3879T>A (p.Leu1293=) c.3882T>A (p.Leu1294=) c.3798T>A (p.Leu1266=) c.2331T>A (p.Leu777=) c.3516T>A (p.Leu1172=) c.3102T>A (p.Leu1034=) c.3708T>A (p.Leu1236=) c.4062T>A (p.Leu1354=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742456A= | CA1239490482 | ASXL2 | c.3878T= (p.Leu1293=) c.3881T= (p.Leu1294=) c.3797T= (p.Leu1266=) c.2330T= (p.Leu777=) c.3515T= (p.Leu1172=) c.3101T= (p.Leu1034=) c.3707T= (p.Leu1236=) c.4061T= (p.Leu1354=) | |
2 | g.25742456A>C | CA346075467 | ASXL2 | c.3878T>G (p.Leu1293Arg) c.3881T>G (p.Leu1294Arg) c.3797T>G (p.Leu1266Arg) c.2330T>G (p.Leu777Arg) c.3515T>G (p.Leu1172Arg) c.3101T>G (p.Leu1034Arg) c.3707T>G (p.Leu1236Arg) c.4061T>G (p.Leu1354Arg) | |
2 | g.25742456A>G | CA346075470 | ASXL2 | c.3878T>C (p.Leu1293Pro) c.3881T>C (p.Leu1294Pro) c.3797T>C (p.Leu1266Pro) c.2330T>C (p.Leu777Pro) c.3515T>C (p.Leu1172Pro) c.3101T>C (p.Leu1034Pro) c.3707T>C (p.Leu1236Pro) c.4061T>C (p.Leu1354Pro) | dbSNP gnomAD v4 |
2 | g.25742456A>T | CA346075472 | ASXL2 | c.3878T>A (p.Leu1293His) c.3881T>A (p.Leu1294His) c.3797T>A (p.Leu1266His) c.2330T>A (p.Leu777His) c.3515T>A (p.Leu1172His) c.3101T>A (p.Leu1034His) c.3707T>A (p.Leu1236His) c.4061T>A (p.Leu1354His) | |
2 | g.25742457G>A | CA43734294 | ASXL2 | c.3877C>T (p.Leu1293Phe) c.3880C>T (p.Leu1294Phe) c.3796C>T (p.Leu1266Phe) c.2329C>T (p.Leu777Phe) c.3514C>T (p.Leu1172Phe) c.3100C>T (p.Leu1034Phe) c.3706C>T (p.Leu1236Phe) c.4060C>T (p.Leu1354Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742457G>C | CA346075478 | ASXL2 | c.3877C>G (p.Leu1293Val) c.3880C>G (p.Leu1294Val) c.3796C>G (p.Leu1266Val) c.2329C>G (p.Leu777Val) c.3514C>G (p.Leu1172Val) c.3100C>G (p.Leu1034Val) c.3706C>G (p.Leu1236Val) c.4060C>G (p.Leu1354Val) | COSMIC COSMIC |
2 | g.25742457G= | CA1239490483 | ASXL2 | c.3877C= (p.Leu1293=) c.3880C= (p.Leu1294=) c.3796C= (p.Leu1266=) c.2329C= (p.Leu777=) c.3514C= (p.Leu1172=) c.3100C= (p.Leu1034=) c.3706C= (p.Leu1236=) c.4060C= (p.Leu1354=) | |
2 | g.25742457G>T | CA346075480 | ASXL2 | c.3877C>A (p.Leu1293Ile) c.3880C>A (p.Leu1294Ile) c.3796C>A (p.Leu1266Ile) c.2329C>A (p.Leu777Ile) c.3514C>A (p.Leu1172Ile) c.3100C>A (p.Leu1034Ile) c.3706C>A (p.Leu1236Ile) c.4060C>A (p.Leu1354Ile) | |
2 | g.25742458A>C | CA425354970 | ASXL2 | c.3876T>G (p.Val1292=) c.3879T>G (p.Val1293=) c.3795T>G (p.Val1265=) c.2328T>G (p.Val776=) c.3513T>G (p.Val1171=) c.3099T>G (p.Val1033=) c.3705T>G (p.Val1235=) c.4059T>G (p.Val1353=) | |
2 | g.25742458A>G | CA425354972 | ASXL2 | c.3876T>C (p.Val1292=) c.3879T>C (p.Val1293=) c.3795T>C (p.Val1265=) c.2328T>C (p.Val776=) c.3513T>C (p.Val1171=) c.3099T>C (p.Val1033=) c.3705T>C (p.Val1235=) c.4059T>C (p.Val1353=) | |
2 | g.25742458A>T | CA425354974 | ASXL2 | c.3876T>A (p.Val1292=) c.3879T>A (p.Val1293=) c.3795T>A (p.Val1265=) c.2328T>A (p.Val776=) c.3513T>A (p.Val1171=) c.3099T>A (p.Val1033=) c.3705T>A (p.Val1235=) c.4059T>A (p.Val1353=) | |
2 | g.25742459A>C | CA346075490 | ASXL2 | c.3875T>G (p.Val1292Gly) c.3878T>G (p.Val1293Gly) c.3794T>G (p.Val1265Gly) c.2327T>G (p.Val776Gly) c.3512T>G (p.Val1171Gly) c.3098T>G (p.Val1033Gly) c.3704T>G (p.Val1235Gly) c.4058T>G (p.Val1353Gly) | |
2 | g.25742459A>G | CA346075487 | ASXL2 | c.3875T>C (p.Val1292Ala) c.3878T>C (p.Val1293Ala) c.3794T>C (p.Val1265Ala) c.2327T>C (p.Val776Ala) c.3512T>C (p.Val1171Ala) c.3098T>C (p.Val1033Ala) c.3704T>C (p.Val1235Ala) c.4058T>C (p.Val1353Ala) | |
2 | g.25742459A>T | CA346075484 | ASXL2 | c.3875T>A (p.Val1292Asp) c.3878T>A (p.Val1293Asp) c.3794T>A (p.Val1265Asp) c.2327T>A (p.Val776Asp) c.3512T>A (p.Val1171Asp) c.3098T>A (p.Val1033Asp) c.3704T>A (p.Val1235Asp) c.4058T>A (p.Val1353Asp) | |
2 | g.25742460C>A | CA346075495 | ASXL2 | c.3874G>T (p.Val1292Phe) c.3877G>T (p.Val1293Phe) c.3793G>T (p.Val1265Phe) c.2326G>T (p.Val776Phe) c.3511G>T (p.Val1171Phe) c.3097G>T (p.Val1033Phe) c.3703G>T (p.Val1235Phe) c.4057G>T (p.Val1353Phe) | gnomAD v4 |
2 | g.25742460C= | CA1239490484 | ASXL2 | c.3874G= (p.Val1292=) c.3877G= (p.Val1293=) c.3793G= (p.Val1265=) c.2326G= (p.Val776=) c.3511G= (p.Val1171=) c.3097G= (p.Val1033=) c.3703G= (p.Val1235=) c.4057G= (p.Val1353=) | |
2 | g.25742460C>G | CA43734296 | ASXL2 | c.3874G>C (p.Val1292Leu) c.3877G>C (p.Val1293Leu) c.3793G>C (p.Val1265Leu) c.2326G>C (p.Val776Leu) c.3511G>C (p.Val1171Leu) c.3097G>C (p.Val1033Leu) c.3703G>C (p.Val1235Leu) c.4057G>C (p.Val1353Leu) | dbSNP |
2 | g.25742460C>T | CA346075498 | ASXL2 | c.3874G>A (p.Val1292Ile) c.3877G>A (p.Val1293Ile) c.3793G>A (p.Val1265Ile) c.2326G>A (p.Val776Ile) c.3511G>A (p.Val1171Ile) c.3097G>A (p.Val1033Ile) c.3703G>A (p.Val1235Ile) c.4057G>A (p.Val1353Ile) | |
2 | g.25742461A= | CA1239490485 | ASXL2 | c.3873T= (p.Thr1291=) c.3876T= (p.Thr1292=) c.3792T= (p.Thr1264=) c.2325T= (p.Thr775=) c.3510T= (p.Thr1170=) c.3096T= (p.Thr1032=) c.3702T= (p.Thr1234=) c.4056T= (p.Thr1352=) | |
2 | g.25742461A>C | CA425354980 | ASXL2 | c.3873T>G (p.Thr1291=) c.3876T>G (p.Thr1292=) c.3792T>G (p.Thr1264=) c.2325T>G (p.Thr775=) c.3510T>G (p.Thr1170=) c.3096T>G (p.Thr1032=) c.3702T>G (p.Thr1234=) c.4056T>G (p.Thr1352=) | |
2 | g.25742461A>G | CA425354981 | ASXL2 | c.3873T>C (p.Thr1291=) c.3876T>C (p.Thr1292=) c.3792T>C (p.Thr1264=) c.2325T>C (p.Thr775=) c.3510T>C (p.Thr1170=) c.3096T>C (p.Thr1032=) c.3702T>C (p.Thr1234=) c.4056T>C (p.Thr1352=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25742461A>T | CA425354982 | ASXL2 | c.3873T>A (p.Thr1291=) c.3876T>A (p.Thr1292=) c.3792T>A (p.Thr1264=) c.2325T>A (p.Thr775=) c.3510T>A (p.Thr1170=) c.3096T>A (p.Thr1032=) c.3702T>A (p.Thr1234=) c.4056T>A (p.Thr1352=) | |
2 | g.25742462G>A | CA1557407 | ASXL2 | c.3872C>T (p.Thr1291Ile) c.3875C>T (p.Thr1292Ile) c.3791C>T (p.Thr1264Ile) c.2324C>T (p.Thr775Ile) c.3509C>T (p.Thr1170Ile) c.3095C>T (p.Thr1032Ile) c.3701C>T (p.Thr1234Ile) c.4055C>T (p.Thr1352Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742462G>C | CA346075506 | ASXL2 | c.3872C>G (p.Thr1291Ser) c.3875C>G (p.Thr1292Ser) c.3791C>G (p.Thr1264Ser) c.2324C>G (p.Thr775Ser) c.3509C>G (p.Thr1170Ser) c.3095C>G (p.Thr1032Ser) c.3701C>G (p.Thr1234Ser) c.4055C>G (p.Thr1352Ser) | dbSNP |
2 | g.25742462G= | CA1239490486 | ASXL2 | c.3872C= (p.Thr1291=) c.3875C= (p.Thr1292=) c.3791C= (p.Thr1264=) c.2324C= (p.Thr775=) c.3509C= (p.Thr1170=) c.3095C= (p.Thr1032=) c.3701C= (p.Thr1234=) c.4055C= (p.Thr1352=) | |
2 | g.25742462G>T | CA346075508 | ASXL2 | c.3872C>A (p.Thr1291Asn) c.3875C>A (p.Thr1292Asn) c.3791C>A (p.Thr1264Asn) c.2324C>A (p.Thr775Asn) c.3509C>A (p.Thr1170Asn) c.3095C>A (p.Thr1032Asn) c.3701C>A (p.Thr1234Asn) c.4055C>A (p.Thr1352Asn) | |
2 | g.25742463T>A | CA346075510 | ASXL2 | c.3871A>T (p.Thr1291Ser) c.3874A>T (p.Thr1292Ser) c.3790A>T (p.Thr1264Ser) c.2323A>T (p.Thr775Ser) c.3508A>T (p.Thr1170Ser) c.3094A>T (p.Thr1032Ser) c.3700A>T (p.Thr1234Ser) c.4054A>T (p.Thr1352Ser) | |
2 | g.25742463T>C | CA1557408 | ASXL2 | c.3871A>G (p.Thr1291Ala) c.3874A>G (p.Thr1292Ala) c.3790A>G (p.Thr1264Ala) c.2323A>G (p.Thr775Ala) c.3508A>G (p.Thr1170Ala) c.3094A>G (p.Thr1032Ala) c.3700A>G (p.Thr1234Ala) c.4054A>G (p.Thr1352Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25742463T>G | CA346075513 | ASXL2 | c.3871A>C (p.Thr1291Pro) c.3874A>C (p.Thr1292Pro) c.3790A>C (p.Thr1264Pro) c.2323A>C (p.Thr775Pro) c.3508A>C (p.Thr1170Pro) c.3094A>C (p.Thr1032Pro) c.3700A>C (p.Thr1234Pro) c.4054A>C (p.Thr1352Pro) | |
2 | g.25742463T= | CA1239490487 | ASXL2 | c.3871A= (p.Thr1291=) c.3874A= (p.Thr1292=) c.3790A= (p.Thr1264=) c.2323A= (p.Thr775=) c.3508A= (p.Thr1170=) c.3094A= (p.Thr1032=) c.3700A= (p.Thr1234=) c.4054A= (p.Thr1352=) | |
2 | g.25742465_25742488dup | CA2658189303 | ASXL2 | c.3848_3871dup (p.Ser1290_Thr1291insSerSerProGluLeuPheSerSer) c.3851_3874dup (p.Ser1291_Thr1292insSerSerProGluLeuPheSerSer) c.3767_3790dup (p.Ser1263_Thr1264insSerSerProGluLeuPheSerSer) c.2300_2323dup (p.Ser774_Thr775insSerSerProGluLeuPheSerSer) c.3485_3508dup (p.Ser1169_Thr1170insSerSerProGluLeuPheSerSer) c.3071_3094dup (p.Ser1031_Thr1032insSerSerProGluLeuPheSerSer) c.3677_3700dup (p.Ser1233_Thr1234insSerSerProGluLeuPheSerSer) c.4031_4054dup (p.Ser1351_Thr1352insSerSerProGluLeuPheSerSer) | gnomAD v4 |
2 | g.25742464A>C | CA425354988 | ASXL2 | c.3870T>G (p.Ser1290=) c.3873T>G (p.Ser1291=) c.3789T>G (p.Ser1263=) c.2322T>G (p.Ser774=) c.3507T>G (p.Ser1169=) c.3093T>G (p.Ser1031=) c.3699T>G (p.Ser1233=) c.4053T>G (p.Ser1351=) | |
2 | g.25742464A>G | CA425354989 | ASXL2 | c.3870T>C (p.Ser1290=) c.3873T>C (p.Ser1291=) c.3789T>C (p.Ser1263=) c.2322T>C (p.Ser774=) c.3507T>C (p.Ser1169=) c.3093T>C (p.Ser1031=) c.3699T>C (p.Ser1233=) c.4053T>C (p.Ser1351=) | |
2 | g.25742464A>T | CA425354990 | ASXL2 | c.3870T>A (p.Ser1290=) c.3873T>A (p.Ser1291=) c.3789T>A (p.Ser1263=) c.2322T>A (p.Ser774=) c.3507T>A (p.Ser1169=) c.3093T>A (p.Ser1031=) c.3699T>A (p.Ser1233=) c.4053T>A (p.Ser1351=) | |
2 | g.25742465G>A | CA346075516 | ASXL2 | c.3869C>T (p.Ser1290Phe) c.3872C>T (p.Ser1291Phe) c.3788C>T (p.Ser1263Phe) c.2321C>T (p.Ser774Phe) c.3506C>T (p.Ser1169Phe) c.3092C>T (p.Ser1031Phe) c.3698C>T (p.Ser1233Phe) c.4052C>T (p.Ser1351Phe) | |
2 | g.25742465G>C | CA346075518 | ASXL2 | c.3869C>G (p.Ser1290Cys) c.3872C>G (p.Ser1291Cys) c.3788C>G (p.Ser1263Cys) c.2321C>G (p.Ser774Cys) c.3506C>G (p.Ser1169Cys) c.3092C>G (p.Ser1031Cys) c.3698C>G (p.Ser1233Cys) c.4052C>G (p.Ser1351Cys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25742465G= | CA1239490488 | ASXL2 | c.3869C= (p.Ser1290=) c.3872C= (p.Ser1291=) c.3788C= (p.Ser1263=) c.2321C= (p.Ser774=) c.3506C= (p.Ser1169=) c.3092C= (p.Ser1031=) c.3698C= (p.Ser1233=) c.4052C= (p.Ser1351=) | |
2 | g.25742465G>T | CA346075519 | ASXL2 | c.3869C>A (p.Ser1290Tyr) c.3872C>A (p.Ser1291Tyr) c.3788C>A (p.Ser1263Tyr) c.2321C>A (p.Ser774Tyr) c.3506C>A (p.Ser1169Tyr) c.3092C>A (p.Ser1031Tyr) c.3698C>A (p.Ser1233Tyr) c.4052C>A (p.Ser1351Tyr) | |
2 | g.25742466A>C | CA346075521 | ASXL2 | c.3868T>G (p.Ser1290Ala) c.3871T>G (p.Ser1291Ala) c.3787T>G (p.Ser1263Ala) c.2320T>G (p.Ser774Ala) c.3505T>G (p.Ser1169Ala) c.3091T>G (p.Ser1031Ala) c.3697T>G (p.Ser1233Ala) c.4051T>G (p.Ser1351Ala) | |
2 | g.25742466A>G | CA346075522 | ASXL2 | c.3868T>C (p.Ser1290Pro) c.3871T>C (p.Ser1291Pro) c.3787T>C (p.Ser1263Pro) c.2320T>C (p.Ser774Pro) c.3505T>C (p.Ser1169Pro) c.3091T>C (p.Ser1031Pro) c.3697T>C (p.Ser1233Pro) c.4051T>C (p.Ser1351Pro) | |
2 | g.25742466A>T | CA346075523 | ASXL2 | c.3868T>A (p.Ser1290Thr) c.3871T>A (p.Ser1291Thr) c.3787T>A (p.Ser1263Thr) c.2320T>A (p.Ser774Thr) c.3505T>A (p.Ser1169Thr) c.3091T>A (p.Ser1031Thr) c.3697T>A (p.Ser1233Thr) c.4051T>A (p.Ser1351Thr) | |
2 | g.25742467A>C | CA346075528 | ASXL2 | c.3867T>G (p.Ser1289Arg) c.3870T>G (p.Ser1290Arg) c.3786T>G (p.Ser1262Arg) c.2319T>G (p.Ser773Arg) c.3504T>G (p.Ser1168Arg) c.3090T>G (p.Ser1030Arg) c.3696T>G (p.Ser1232Arg) c.4050T>G (p.Ser1350Arg) | |
2 | g.25742467A>G | CA425353680 | ASXL2 | c.3867T>C (p.Ser1289=) c.3870T>C (p.Ser1290=) c.3786T>C (p.Ser1262=) c.2319T>C (p.Ser773=) c.3504T>C (p.Ser1168=) c.3090T>C (p.Ser1030=) c.3696T>C (p.Ser1232=) c.4050T>C (p.Ser1350=) | |
2 | g.25742467A>T | CA346075526 | ASXL2 | c.3867T>A (p.Ser1289Arg) c.3870T>A (p.Ser1290Arg) c.3786T>A (p.Ser1262Arg) c.2319T>A (p.Ser773Arg) c.3504T>A (p.Ser1168Arg) c.3090T>A (p.Ser1030Arg) c.3696T>A (p.Ser1232Arg) c.4050T>A (p.Ser1350Arg) | |
2 | g.25742468C>A | CA346075530 | ASXL2 | c.3866G>T (p.Ser1289Ile) c.3869G>T (p.Ser1290Ile) c.3785G>T (p.Ser1262Ile) c.2318G>T (p.Ser773Ile) c.3503G>T (p.Ser1168Ile) c.3089G>T (p.Ser1030Ile) c.3695G>T (p.Ser1232Ile) c.4049G>T (p.Ser1350Ile) | |
2 | g.25742468C>G | CA346075532 | ASXL2 | c.3866G>C (p.Ser1289Thr) c.3869G>C (p.Ser1290Thr) c.3785G>C (p.Ser1262Thr) c.2318G>C (p.Ser773Thr) c.3503G>C (p.Ser1168Thr) c.3089G>C (p.Ser1030Thr) c.3695G>C (p.Ser1232Thr) c.4049G>C (p.Ser1350Thr) | COSMIC COSMIC |
2 | g.25742468C>T | CA346075535 | ASXL2 | c.3866G>A (p.Ser1289Asn) c.3869G>A (p.Ser1290Asn) c.3785G>A (p.Ser1262Asn) c.2318G>A (p.Ser773Asn) c.3503G>A (p.Ser1168Asn) c.3089G>A (p.Ser1030Asn) c.3695G>A (p.Ser1232Asn) c.4049G>A (p.Ser1350Asn) | ClinVar dbSNP |
2 | g.25742469T>A | CA346075537 | ASXL2 | c.3865A>T (p.Ser1289Cys) c.3868A>T (p.Ser1290Cys) c.3784A>T (p.Ser1262Cys) c.2317A>T (p.Ser773Cys) c.3502A>T (p.Ser1168Cys) c.3088A>T (p.Ser1030Cys) c.3694A>T (p.Ser1232Cys) c.4048A>T (p.Ser1350Cys) | |
2 | g.25742469T>C | CA346075539 | ASXL2 | c.3865A>G (p.Ser1289Gly) c.3868A>G (p.Ser1290Gly) c.3784A>G (p.Ser1262Gly) c.2317A>G (p.Ser773Gly) c.3502A>G (p.Ser1168Gly) c.3088A>G (p.Ser1030Gly) c.3694A>G (p.Ser1232Gly) c.4048A>G (p.Ser1350Gly) | |
2 | g.25742469T>G | CA346075541 | ASXL2 | c.3865A>C (p.Ser1289Arg) c.3868A>C (p.Ser1290Arg) c.3784A>C (p.Ser1262Arg) c.2317A>C (p.Ser773Arg) c.3502A>C (p.Ser1168Arg) c.3088A>C (p.Ser1030Arg) c.3694A>C (p.Ser1232Arg) c.4048A>C (p.Ser1350Arg) | |
2 | g.25742470G>A | CA425353681 | ASXL2 | c.3864C>T (p.Phe1288=) c.3867C>T (p.Phe1289=) c.3783C>T (p.Phe1261=) c.2316C>T (p.Phe772=) c.3501C>T (p.Phe1167=) c.3087C>T (p.Phe1029=) c.3693C>T (p.Phe1231=) c.4047C>T (p.Phe1349=) | |
2 | g.25742470G>C | CA346075545 | ASXL2 | c.3864C>G (p.Phe1288Leu) c.3867C>G (p.Phe1289Leu) c.3783C>G (p.Phe1261Leu) c.2316C>G (p.Phe772Leu) c.3501C>G (p.Phe1167Leu) c.3087C>G (p.Phe1029Leu) c.3693C>G (p.Phe1231Leu) c.4047C>G (p.Phe1349Leu) | |
2 | g.25742470G>T | CA346075544 | ASXL2 | c.3864C>A (p.Phe1288Leu) c.3867C>A (p.Phe1289Leu) c.3783C>A (p.Phe1261Leu) c.2316C>A (p.Phe772Leu) c.3501C>A (p.Phe1167Leu) c.3087C>A (p.Phe1029Leu) c.3693C>A (p.Phe1231Leu) c.4047C>A (p.Phe1349Leu) | |
2 | g.25742471A>C | CA346075547 | ASXL2 | c.3863T>G (p.Phe1288Cys) c.3866T>G (p.Phe1289Cys) c.3782T>G (p.Phe1261Cys) c.2315T>G (p.Phe772Cys) c.3500T>G (p.Phe1167Cys) c.3086T>G (p.Phe1029Cys) c.3692T>G (p.Phe1231Cys) c.4046T>G (p.Phe1349Cys) | |
2 | g.25742471A>G | CA346075549 | ASXL2 | c.3863T>C (p.Phe1288Ser) c.3866T>C (p.Phe1289Ser) c.3782T>C (p.Phe1261Ser) c.2315T>C (p.Phe772Ser) c.3500T>C (p.Phe1167Ser) c.3086T>C (p.Phe1029Ser) c.3692T>C (p.Phe1231Ser) c.4046T>C (p.Phe1349Ser) | |
2 | g.25742471A>T | CA346075552 | ASXL2 | c.3863T>A (p.Phe1288Tyr) c.3866T>A (p.Phe1289Tyr) c.3782T>A (p.Phe1261Tyr) c.2315T>A (p.Phe772Tyr) c.3500T>A (p.Phe1167Tyr) c.3086T>A (p.Phe1029Tyr) c.3692T>A (p.Phe1231Tyr) c.4046T>A (p.Phe1349Tyr) | |
2 | g.25742472A>C | CA346075555 | ASXL2 | c.3862T>G (p.Phe1288Val) c.3865T>G (p.Phe1289Val) c.3781T>G (p.Phe1261Val) c.2314T>G (p.Phe772Val) c.3499T>G (p.Phe1167Val) c.3085T>G (p.Phe1029Val) c.3691T>G (p.Phe1231Val) c.4045T>G (p.Phe1349Val) | |
2 | g.25742472A>G | CA346075557 | ASXL2 | c.3862T>C (p.Phe1288Leu) c.3865T>C (p.Phe1289Leu) c.3781T>C (p.Phe1261Leu) c.2314T>C (p.Phe772Leu) c.3499T>C (p.Phe1167Leu) c.3085T>C (p.Phe1029Leu) c.3691T>C (p.Phe1231Leu) c.4045T>C (p.Phe1349Leu) | |
2 | g.25742472A>T | CA346075558 | ASXL2 | c.3862T>A (p.Phe1288Ile) c.3865T>A (p.Phe1289Ile) c.3781T>A (p.Phe1261Ile) c.2314T>A (p.Phe772Ile) c.3499T>A (p.Phe1167Ile) c.3085T>A (p.Phe1029Ile) c.3691T>A (p.Phe1231Ile) c.4045T>A (p.Phe1349Ile) | |
2 | g.25742473A>C | CA425353684 | ASXL2 | c.3861T>G (p.Leu1287=) c.3864T>G (p.Leu1288=) c.3780T>G (p.Leu1260=) c.2313T>G (p.Leu771=) c.3498T>G (p.Leu1166=) c.3084T>G (p.Leu1028=) c.3690T>G (p.Leu1230=) c.4044T>G (p.Leu1348=) | gnomAD v4 |
2 | g.25742473A>G | CA425353682 | ASXL2 | c.3861T>C (p.Leu1287=) c.3864T>C (p.Leu1288=) c.3780T>C (p.Leu1260=) c.2313T>C (p.Leu771=) c.3498T>C (p.Leu1166=) c.3084T>C (p.Leu1028=) c.3690T>C (p.Leu1230=) c.4044T>C (p.Leu1348=) | |
2 | g.25742473A>T | CA425353683 | ASXL2 | c.3861T>A (p.Leu1287=) c.3864T>A (p.Leu1288=) c.3780T>A (p.Leu1260=) c.2313T>A (p.Leu771=) c.3498T>A (p.Leu1166=) c.3084T>A (p.Leu1028=) c.3690T>A (p.Leu1230=) c.4044T>A (p.Leu1348=) | |
2 | g.25742474A= | CA1239490489 | ASXL2 | c.3860T= (p.Leu1287=) c.3863T= (p.Leu1288=) c.3779T= (p.Leu1260=) c.2312T= (p.Leu771=) c.3497T= (p.Leu1166=) c.3083T= (p.Leu1028=) c.3689T= (p.Leu1230=) c.4043T= (p.Leu1348=) | |
2 | g.25742474A>C | CA346075562 | ASXL2 | c.3860T>G (p.Leu1287Arg) c.3863T>G (p.Leu1288Arg) c.3779T>G (p.Leu1260Arg) c.2312T>G (p.Leu771Arg) c.3497T>G (p.Leu1166Arg) c.3083T>G (p.Leu1028Arg) c.3689T>G (p.Leu1230Arg) c.4043T>G (p.Leu1348Arg) | dbSNP |
2 | g.25742474A>G | CA346075565 | ASXL2 | c.3860T>C (p.Leu1287Pro) c.3863T>C (p.Leu1288Pro) c.3779T>C (p.Leu1260Pro) c.2312T>C (p.Leu771Pro) c.3497T>C (p.Leu1166Pro) c.3083T>C (p.Leu1028Pro) c.3689T>C (p.Leu1230Pro) c.4043T>C (p.Leu1348Pro) | |
2 | g.25742474A>T | CA346075563 | ASXL2 | c.3860T>A (p.Leu1287His) c.3863T>A (p.Leu1288His) c.3779T>A (p.Leu1260His) c.2312T>A (p.Leu771His) c.3497T>A (p.Leu1166His) c.3083T>A (p.Leu1028His) c.3689T>A (p.Leu1230His) c.4043T>A (p.Leu1348His) | |
2 | g.25742475G>A | CA346075566 | ASXL2 | c.3859C>T (p.Leu1287Phe) c.3862C>T (p.Leu1288Phe) c.3778C>T (p.Leu1260Phe) c.2311C>T (p.Leu771Phe) c.3496C>T (p.Leu1166Phe) c.3082C>T (p.Leu1028Phe) c.3688C>T (p.Leu1230Phe) c.4042C>T (p.Leu1348Phe) | |
2 | g.25742475G>C | CA346075567 | ASXL2 | c.3859C>G (p.Leu1287Val) c.3862C>G (p.Leu1288Val) c.3778C>G (p.Leu1260Val) c.2311C>G (p.Leu771Val) c.3496C>G (p.Leu1166Val) c.3082C>G (p.Leu1028Val) c.3688C>G (p.Leu1230Val) c.4042C>G (p.Leu1348Val) | |
2 | g.25742475G>T | CA346075568 | ASXL2 | c.3859C>A (p.Leu1287Ile) c.3862C>A (p.Leu1288Ile) c.3778C>A (p.Leu1260Ile) c.2311C>A (p.Leu771Ile) c.3496C>A (p.Leu1166Ile) c.3082C>A (p.Leu1028Ile) c.3688C>A (p.Leu1230Ile) c.4042C>A (p.Leu1348Ile) | gnomAD v4 COSMIC COSMIC |
2 | g.25742476C>A | CA346075569 | ASXL2 | c.3858G>T (p.Glu1286Asp) c.3861G>T (p.Glu1287Asp) c.3777G>T (p.Glu1259Asp) c.2310G>T (p.Glu770Asp) c.3495G>T (p.Glu1165Asp) c.3081G>T (p.Glu1027Asp) c.3687G>T (p.Glu1229Asp) c.4041G>T (p.Glu1347Asp) | |
2 | g.25742476C= | CA1239490490 | ASXL2 | c.3858G= (p.Glu1286=) c.3861G= (p.Glu1287=) c.3777G= (p.Glu1259=) c.2310G= (p.Glu770=) c.3495G= (p.Glu1165=) c.3081G= (p.Glu1027=) c.3687G= (p.Glu1229=) c.4041G= (p.Glu1347=) | |
2 | g.25742476C>G | CA346075570 | ASXL2 | c.3858G>C (p.Glu1286Asp) c.3861G>C (p.Glu1287Asp) c.3777G>C (p.Glu1259Asp) c.2310G>C (p.Glu770Asp) c.3495G>C (p.Glu1165Asp) c.3081G>C (p.Glu1027Asp) c.3687G>C (p.Glu1229Asp) c.4041G>C (p.Glu1347Asp) | |
2 | g.25742476C>T | CA425353685 | ASXL2 | c.3858G>A (p.Glu1286=) c.3861G>A (p.Glu1287=) c.3777G>A (p.Glu1259=) c.2310G>A (p.Glu770=) c.3495G>A (p.Glu1165=) c.3081G>A (p.Glu1027=) c.3687G>A (p.Glu1229=) c.4041G>A (p.Glu1347=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25742477T>A | CA346075571 | ASXL2 | c.3857A>T (p.Glu1286Val) c.3860A>T (p.Glu1287Val) c.3776A>T (p.Glu1259Val) c.2309A>T (p.Glu770Val) c.3494A>T (p.Glu1165Val) c.3080A>T (p.Glu1027Val) c.3686A>T (p.Glu1229Val) c.4040A>T (p.Glu1347Val) | |
2 | g.25742477T>C | CA346075572 | ASXL2 | c.3857A>G (p.Glu1286Gly) c.3860A>G (p.Glu1287Gly) c.3776A>G (p.Glu1259Gly) c.2309A>G (p.Glu770Gly) c.3494A>G (p.Glu1165Gly) c.3080A>G (p.Glu1027Gly) c.3686A>G (p.Glu1229Gly) c.4040A>G (p.Glu1347Gly) | |
2 | g.25742477T>G | CA346075573 | ASXL2 | c.3857A>C (p.Glu1286Ala) c.3860A>C (p.Glu1287Ala) c.3776A>C (p.Glu1259Ala) c.2309A>C (p.Glu770Ala) c.3494A>C (p.Glu1165Ala) c.3080A>C (p.Glu1027Ala) c.3686A>C (p.Glu1229Ala) c.4040A>C (p.Glu1347Ala) | |
2 | g.25742478C>A | CA346075575 | ASXL2 | c.3856G>T (p.Glu1286Ter) c.3859G>T (p.Glu1287Ter) c.3775G>T (p.Glu1259Ter) c.2308G>T (p.Glu770Ter) c.3493G>T (p.Glu1165Ter) c.3079G>T (p.Glu1027Ter) c.3685G>T (p.Glu1229Ter) c.4039G>T (p.Glu1347Ter) | |
2 | g.25742478C= | CA1239490491 | ASXL2 | c.3856G= (p.Glu1286=) c.3859G= (p.Glu1287=) c.3775G= (p.Glu1259=) c.2308G= (p.Glu770=) c.3493G= (p.Glu1165=) c.3079G= (p.Glu1027=) c.3685G= (p.Glu1229=) c.4039G= (p.Glu1347=) | |
2 | g.25742478C>G | CA346075576 | ASXL2 | c.3856G>C (p.Glu1286Gln) c.3859G>C (p.Glu1287Gln) c.3775G>C (p.Glu1259Gln) c.2308G>C (p.Glu770Gln) c.3493G>C (p.Glu1165Gln) c.3079G>C (p.Glu1027Gln) c.3685G>C (p.Glu1229Gln) c.4039G>C (p.Glu1347Gln) | gnomAD v4 |
2 | g.25742478C>T | CA1557409 | ASXL2 | c.3856G>A (p.Glu1286Lys) c.3859G>A (p.Glu1287Lys) c.3775G>A (p.Glu1259Lys) c.2308G>A (p.Glu770Lys) c.3493G>A (p.Glu1165Lys) c.3079G>A (p.Glu1027Lys) c.3685G>A (p.Glu1229Lys) c.4039G>A (p.Glu1347Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.25742479G>A | CA1557410 | ASXL2 | c.3855C>T (p.Pro1285=) c.3858C>T (p.Pro1286=) c.3774C>T (p.Pro1258=) c.2307C>T (p.Pro769=) c.3492C>T (p.Pro1164=) c.3078C>T (p.Pro1026=) c.3684C>T (p.Pro1228=) c.4038C>T (p.Pro1346=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742479G>C | CA425353686 | ASXL2 | c.3855C>G (p.Pro1285=) c.3858C>G (p.Pro1286=) c.3774C>G (p.Pro1258=) c.2307C>G (p.Pro769=) c.3492C>G (p.Pro1164=) c.3078C>G (p.Pro1026=) c.3684C>G (p.Pro1228=) c.4038C>G (p.Pro1346=) | gnomAD v3 gnomAD v4 |
2 | g.25742479G= | CA1239490492 | ASXL2 | c.3855C= (p.Pro1285=) c.3858C= (p.Pro1286=) c.3774C= (p.Pro1258=) c.2307C= (p.Pro769=) c.3492C= (p.Pro1164=) c.3078C= (p.Pro1026=) c.3684C= (p.Pro1228=) c.4038C= (p.Pro1346=) | |
2 | g.25742479G>T | CA425353687 | ASXL2 | c.3855C>A (p.Pro1285=) c.3858C>A (p.Pro1286=) c.3774C>A (p.Pro1258=) c.2307C>A (p.Pro769=) c.3492C>A (p.Pro1164=) c.3078C>A (p.Pro1026=) c.3684C>A (p.Pro1228=) c.4038C>A (p.Pro1346=) | |
2 | g.25742480G>A | CA346075586 | ASXL2 | c.3854C>T (p.Pro1285Leu) c.3857C>T (p.Pro1286Leu) c.3773C>T (p.Pro1258Leu) c.2306C>T (p.Pro769Leu) c.3491C>T (p.Pro1164Leu) c.3077C>T (p.Pro1026Leu) c.3683C>T (p.Pro1228Leu) c.4037C>T (p.Pro1346Leu) | gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.25742480G>C | CA346075589 | ASXL2 | c.3854C>G (p.Pro1285Arg) c.3857C>G (p.Pro1286Arg) c.3773C>G (p.Pro1258Arg) c.2306C>G (p.Pro769Arg) c.3491C>G (p.Pro1164Arg) c.3077C>G (p.Pro1026Arg) c.3683C>G (p.Pro1228Arg) c.4037C>G (p.Pro1346Arg) | |
2 | g.25742480G>T | CA346075583 | ASXL2 | c.3854C>A (p.Pro1285His) c.3857C>A (p.Pro1286His) c.3773C>A (p.Pro1258His) c.2306C>A (p.Pro769His) c.3491C>A (p.Pro1164His) c.3077C>A (p.Pro1026His) c.3683C>A (p.Pro1228His) c.4037C>A (p.Pro1346His) | |
2 | g.25742481G>A | CA346075592 | ASXL2 | c.3853C>T (p.Pro1285Ser) c.3856C>T (p.Pro1286Ser) c.3772C>T (p.Pro1258Ser) c.2305C>T (p.Pro769Ser) c.3490C>T (p.Pro1164Ser) c.3076C>T (p.Pro1026Ser) c.3682C>T (p.Pro1228Ser) c.4036C>T (p.Pro1346Ser) | dbSNP gnomAD v2 |
2 | g.25742481G>C | CA346075595 | ASXL2 | c.3853C>G (p.Pro1285Ala) c.3856C>G (p.Pro1286Ala) c.3772C>G (p.Pro1258Ala) c.2305C>G (p.Pro769Ala) c.3490C>G (p.Pro1164Ala) c.3076C>G (p.Pro1026Ala) c.3682C>G (p.Pro1228Ala) c.4036C>G (p.Pro1346Ala) | gnomAD v4 |
2 | g.25742481G= | CA1239490493 | ASXL2 | c.3853C= (p.Pro1285=) c.3856C= (p.Pro1286=) c.3772C= (p.Pro1258=) c.2305C= (p.Pro769=) c.3490C= (p.Pro1164=) c.3076C= (p.Pro1026=) c.3682C= (p.Pro1228=) c.4036C= (p.Pro1346=) | |
2 | g.25742481G>T | CA346075598 | ASXL2 | c.3853C>A (p.Pro1285Thr) c.3856C>A (p.Pro1286Thr) c.3772C>A (p.Pro1258Thr) c.2305C>A (p.Pro769Thr) c.3490C>A (p.Pro1164Thr) c.3076C>A (p.Pro1026Thr) c.3682C>A (p.Pro1228Thr) c.4036C>A (p.Pro1346Thr) | |
2 | g.25742482G>A | CA425353688 | ASXL2 | c.3852C>T (p.Ser1284=) c.3855C>T (p.Ser1285=) c.3771C>T (p.Ser1257=) c.2304C>T (p.Ser768=) c.3489C>T (p.Ser1163=) c.3075C>T (p.Ser1025=) c.3681C>T (p.Ser1227=) c.4035C>T (p.Ser1345=) | |
2 | g.25742482G>C | CA346075601 | ASXL2 | c.3852C>G (p.Ser1284Arg) c.3855C>G (p.Ser1285Arg) c.3771C>G (p.Ser1257Arg) c.2304C>G (p.Ser768Arg) c.3489C>G (p.Ser1163Arg) c.3075C>G (p.Ser1025Arg) c.3681C>G (p.Ser1227Arg) c.4035C>G (p.Ser1345Arg) | |
2 | g.25742482G>T | CA346075604 | ASXL2 | c.3852C>A (p.Ser1284Arg) c.3855C>A (p.Ser1285Arg) c.3771C>A (p.Ser1257Arg) c.2304C>A (p.Ser768Arg) c.3489C>A (p.Ser1163Arg) c.3075C>A (p.Ser1025Arg) c.3681C>A (p.Ser1227Arg) c.4035C>A (p.Ser1345Arg) | |
2 | g.25742483C>A | CA346075613 | ASXL2 | c.3851G>T (p.Ser1284Ile) c.3854G>T (p.Ser1285Ile) c.3770G>T (p.Ser1257Ile) c.2303G>T (p.Ser768Ile) c.3488G>T (p.Ser1163Ile) c.3074G>T (p.Ser1025Ile) c.3680G>T (p.Ser1227Ile) c.4034G>T (p.Ser1345Ile) | gnomAD v4 |
2 | g.25742483C>G | CA346075608 | ASXL2 | c.3851G>C (p.Ser1284Thr) c.3854G>C (p.Ser1285Thr) c.3770G>C (p.Ser1257Thr) c.2303G>C (p.Ser768Thr) c.3488G>C (p.Ser1163Thr) c.3074G>C (p.Ser1025Thr) c.3680G>C (p.Ser1227Thr) c.4034G>C (p.Ser1345Thr) | |
2 | g.25742483C>T | CA346075610 | ASXL2 | c.3851G>A (p.Ser1284Asn) c.3854G>A (p.Ser1285Asn) c.3770G>A (p.Ser1257Asn) c.2303G>A (p.Ser768Asn) c.3488G>A (p.Ser1163Asn) c.3074G>A (p.Ser1025Asn) c.3680G>A (p.Ser1227Asn) c.4034G>A (p.Ser1345Asn) | |
2 | g.25742483_25742484delinsCT | CA1239490494 | ASXL2 | c.3850_3851delinsAG (p.Ser1284=) c.3853_3854delinsAG (p.Ser1285=) c.3769_3770delinsAG (p.Ser1257=) c.2302_2303delinsAG (p.Ser768=) c.3487_3488delinsAG (p.Ser1163=) c.3073_3074delinsAG (p.Ser1025=) c.3679_3680delinsAG (p.Ser1227=) c.4033_4034delinsAG (p.Ser1345=) | |
2 | g.25742484del | CA531761030 | ASXL2 | c.3850del (p.Ser1284AlafsTer?) c.3853del (p.Ser1285AlafsTer?) c.3769del (p.Ser1257AlafsTer?) c.2302del (p.Ser768AlafsTer?) c.3487del (p.Ser1163AlafsTer?) c.3073del (p.Ser1025AlafsTer?) c.3679del (p.Ser1227AlafsTer?) c.4033del (p.Ser1345AlafsTer?) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25742484T>A | CA346075615 | ASXL2 | c.3850A>T (p.Ser1284Cys) c.3853A>T (p.Ser1285Cys) c.3769A>T (p.Ser1257Cys) c.2302A>T (p.Ser768Cys) c.3487A>T (p.Ser1163Cys) c.3073A>T (p.Ser1025Cys) c.3679A>T (p.Ser1227Cys) c.4033A>T (p.Ser1345Cys) | |
2 | g.25742484T>C | CA346075617 | ASXL2 | c.3850A>G (p.Ser1284Gly) c.3853A>G (p.Ser1285Gly) c.3769A>G (p.Ser1257Gly) c.2302A>G (p.Ser768Gly) c.3487A>G (p.Ser1163Gly) c.3073A>G (p.Ser1025Gly) c.3679A>G (p.Ser1227Gly) c.4033A>G (p.Ser1345Gly) | |
2 | g.25742484T>G | CA346075618 | ASXL2 | c.3850A>C (p.Ser1284Arg) c.3853A>C (p.Ser1285Arg) c.3769A>C (p.Ser1257Arg) c.2302A>C (p.Ser768Arg) c.3487A>C (p.Ser1163Arg) c.3073A>C (p.Ser1025Arg) c.3679A>C (p.Ser1227Arg) c.4033A>C (p.Ser1345Arg) | |
2 | g.25742485G>A | CA425353689 | ASXL2 | c.3849C>T (p.Ser1283=) c.3852C>T (p.Ser1284=) c.3768C>T (p.Ser1256=) c.2301C>T (p.Ser767=) c.3486C>T (p.Ser1162=) c.3072C>T (p.Ser1024=) c.3678C>T (p.Ser1226=) c.4032C>T (p.Ser1344=) | |
2 | g.25742485G>C | CA346075621 | ASXL2 | c.3849C>G (p.Ser1283Arg) c.3852C>G (p.Ser1284Arg) c.3768C>G (p.Ser1256Arg) c.2301C>G (p.Ser767Arg) c.3486C>G (p.Ser1162Arg) c.3072C>G (p.Ser1024Arg) c.3678C>G (p.Ser1226Arg) c.4032C>G (p.Ser1344Arg) | |
2 | g.25742485G>T | CA346075623 | ASXL2 | c.3849C>A (p.Ser1283Arg) c.3852C>A (p.Ser1284Arg) c.3768C>A (p.Ser1256Arg) c.2301C>A (p.Ser767Arg) c.3486C>A (p.Ser1162Arg) c.3072C>A (p.Ser1024Arg) c.3678C>A (p.Ser1226Arg) c.4032C>A (p.Ser1344Arg) | |
2 | g.25742486C>A | CA346075628 | ASXL2 | c.3848G>T (p.Ser1283Ile) c.3851G>T (p.Ser1284Ile) c.3767G>T (p.Ser1256Ile) c.2300G>T (p.Ser767Ile) c.3485G>T (p.Ser1162Ile) c.3071G>T (p.Ser1024Ile) c.3677G>T (p.Ser1226Ile) c.4031G>T (p.Ser1344Ile) | |
2 | g.25742486C>G | CA346075635 | ASXL2 | c.3848G>C (p.Ser1283Thr) c.3851G>C (p.Ser1284Thr) c.3767G>C (p.Ser1256Thr) c.2300G>C (p.Ser767Thr) c.3485G>C (p.Ser1162Thr) c.3071G>C (p.Ser1024Thr) c.3677G>C (p.Ser1226Thr) c.4031G>C (p.Ser1344Thr) | |
2 | g.25742486C>T | CA346075632 | ASXL2 | c.3848G>A (p.Ser1283Asn) c.3851G>A (p.Ser1284Asn) c.3767G>A (p.Ser1256Asn) c.2300G>A (p.Ser767Asn) c.3485G>A (p.Ser1162Asn) c.3071G>A (p.Ser1024Asn) c.3677G>A (p.Ser1226Asn) c.4031G>A (p.Ser1344Asn) | |
2 | g.25742487T>A | CA346075638 | ASXL2 | c.3847A>T (p.Ser1283Cys) c.3850A>T (p.Ser1284Cys) c.3766A>T (p.Ser1256Cys) c.2299A>T (p.Ser767Cys) c.3484A>T (p.Ser1162Cys) c.3070A>T (p.Ser1024Cys) c.3676A>T (p.Ser1226Cys) c.4030A>T (p.Ser1344Cys) | |
2 | g.25742487T>C | CA1557411 | ASXL2 | c.3847A>G (p.Ser1283Gly) c.3850A>G (p.Ser1284Gly) c.3766A>G (p.Ser1256Gly) c.2299A>G (p.Ser767Gly) c.3484A>G (p.Ser1162Gly) c.3070A>G (p.Ser1024Gly) c.3676A>G (p.Ser1226Gly) c.4030A>G (p.Ser1344Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25742487T>G | CA346075641 | ASXL2 | c.3847A>C (p.Ser1283Arg) c.3850A>C (p.Ser1284Arg) c.3766A>C (p.Ser1256Arg) c.2299A>C (p.Ser767Arg) c.3484A>C (p.Ser1162Arg) c.3070A>C (p.Ser1024Arg) c.3676A>C (p.Ser1226Arg) c.4030A>C (p.Ser1344Arg) | |
2 | g.25742487T= | CA1239490495 | ASXL2 | c.3847A= (p.Ser1283=) c.3850A= (p.Ser1284=) c.3766A= (p.Ser1256=) c.2299A= (p.Ser767=) c.3484A= (p.Ser1162=) c.3070A= (p.Ser1024=) c.3676A= (p.Ser1226=) c.4030A= (p.Ser1344=) | |
2 | g.25742488A= | CA1239490496 | ASXL2 | c.3846T= (p.Arg1282=) c.3849T= (p.Arg1283=) c.3765T= (p.Arg1255=) c.2298T= (p.Arg766=) c.3483T= (p.Arg1161=) c.3069T= (p.Arg1023=) c.3675T= (p.Arg1225=) c.4029T= (p.Arg1343=) | |
2 | g.25742488A>C | CA425353690 | ASXL2 | c.3846T>G (p.Arg1282=) c.3849T>G (p.Arg1283=) c.3765T>G (p.Arg1255=) c.2298T>G (p.Arg766=) c.3483T>G (p.Arg1161=) c.3069T>G (p.Arg1023=) c.3675T>G (p.Arg1225=) c.4029T>G (p.Arg1343=) | |
2 | g.25742488A>G | CA1557412 | ASXL2 | c.3846T>C (p.Arg1282=) c.3849T>C (p.Arg1283=) c.3765T>C (p.Arg1255=) c.2298T>C (p.Arg766=) c.3483T>C (p.Arg1161=) c.3069T>C (p.Arg1023=) c.3675T>C (p.Arg1225=) c.4029T>C (p.Arg1343=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742488A>T | CA425353691 | ASXL2 | c.3846T>A (p.Arg1282=) c.3849T>A (p.Arg1283=) c.3765T>A (p.Arg1255=) c.2298T>A (p.Arg766=) c.3483T>A (p.Arg1161=) c.3069T>A (p.Arg1023=) c.3675T>A (p.Arg1225=) c.4029T>A (p.Arg1343=) | |
2 | g.25742489C>A | CA1557414 | ASXL2 | c.3845G>T (p.Arg1282Leu) c.3848G>T (p.Arg1283Leu) c.3764G>T (p.Arg1255Leu) c.2297G>T (p.Arg766Leu) c.3482G>T (p.Arg1161Leu) c.3068G>T (p.Arg1023Leu) c.3674G>T (p.Arg1225Leu) c.4028G>T (p.Arg1343Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25742489C= | CA1239490497 | ASXL2 | c.3845G= (p.Arg1282=) c.3848G= (p.Arg1283=) c.3764G= (p.Arg1255=) c.2297G= (p.Arg766=) c.3482G= (p.Arg1161=) c.3068G= (p.Arg1023=) c.3674G= (p.Arg1225=) c.4028G= (p.Arg1343=) | |
2 | g.25742489C>G | CA346075652 | ASXL2 | c.3845G>C (p.Arg1282Pro) c.3848G>C (p.Arg1283Pro) c.3764G>C (p.Arg1255Pro) c.2297G>C (p.Arg766Pro) c.3482G>C (p.Arg1161Pro) c.3068G>C (p.Arg1023Pro) c.3674G>C (p.Arg1225Pro) c.4028G>C (p.Arg1343Pro) | |
2 | g.25742489C>T | CA1557413 | ASXL2 | c.3845G>A (p.Arg1282His) c.3848G>A (p.Arg1283His) c.3764G>A (p.Arg1255His) c.2297G>A (p.Arg766His) c.3482G>A (p.Arg1161His) c.3068G>A (p.Arg1023His) c.3674G>A (p.Arg1225His) c.4028G>A (p.Arg1343His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742490G>A | CA1557415 | ASXL2 | c.3844C>T (p.Arg1282Cys) c.3847C>T (p.Arg1283Cys) c.3763C>T (p.Arg1255Cys) c.2296C>T (p.Arg766Cys) c.3481C>T (p.Arg1161Cys) c.3067C>T (p.Arg1023Cys) c.3673C>T (p.Arg1225Cys) c.4027C>T (p.Arg1343Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742490G>C | CA346075660 | ASXL2 | c.3844C>G (p.Arg1282Gly) c.3847C>G (p.Arg1283Gly) c.3763C>G (p.Arg1255Gly) c.2296C>G (p.Arg766Gly) c.3481C>G (p.Arg1161Gly) c.3067C>G (p.Arg1023Gly) c.3673C>G (p.Arg1225Gly) c.4027C>G (p.Arg1343Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25742490G= | CA1239490498 | ASXL2 | c.3844C= (p.Arg1282=) c.3847C= (p.Arg1283=) c.3763C= (p.Arg1255=) c.2296C= (p.Arg766=) c.3481C= (p.Arg1161=) c.3067C= (p.Arg1023=) c.3673C= (p.Arg1225=) c.4027C= (p.Arg1343=) | |
2 | g.25742490G>T | CA346075663 | ASXL2 | c.3844C>A (p.Arg1282Ser) c.3847C>A (p.Arg1283Ser) c.3763C>A (p.Arg1255Ser) c.2296C>A (p.Arg766Ser) c.3481C>A (p.Arg1161Ser) c.3067C>A (p.Arg1023Ser) c.3673C>A (p.Arg1225Ser) c.4027C>A (p.Arg1343Ser) | |
2 | g.25742491G>A | CA425353692 | ASXL2 | c.3843C>T (p.Ile1281=) c.3846C>T (p.Ile1282=) c.3762C>T (p.Ile1254=) c.2295C>T (p.Ile765=) c.3480C>T (p.Ile1160=) c.3066C>T (p.Ile1022=) c.3672C>T (p.Ile1224=) c.4026C>T (p.Ile1342=) | |
2 | g.25742491G>C | CA346075666 | ASXL2 | c.3843C>G (p.Ile1281Met) c.3846C>G (p.Ile1282Met) c.3762C>G (p.Ile1254Met) c.2295C>G (p.Ile765Met) c.3480C>G (p.Ile1160Met) c.3066C>G (p.Ile1022Met) c.3672C>G (p.Ile1224Met) c.4026C>G (p.Ile1342Met) | |
2 | g.25742491G>T | CA425353693 | ASXL2 | c.3843C>A (p.Ile1281=) c.3846C>A (p.Ile1282=) c.3762C>A (p.Ile1254=) c.2295C>A (p.Ile765=) c.3480C>A (p.Ile1160=) c.3066C>A (p.Ile1022=) c.3672C>A (p.Ile1224=) c.4026C>A (p.Ile1342=) | |
2 | g.25742492A>C | CA346075668 | ASXL2 | c.3842T>G (p.Ile1281Ser) c.3845T>G (p.Ile1282Ser) c.3761T>G (p.Ile1254Ser) c.2294T>G (p.Ile765Ser) c.3479T>G (p.Ile1160Ser) c.3065T>G (p.Ile1022Ser) c.3671T>G (p.Ile1224Ser) c.4025T>G (p.Ile1342Ser) | |
2 | g.25742492A>G | CA346075670 | ASXL2 | c.3842T>C (p.Ile1281Thr) c.3845T>C (p.Ile1282Thr) c.3761T>C (p.Ile1254Thr) c.2294T>C (p.Ile765Thr) c.3479T>C (p.Ile1160Thr) c.3065T>C (p.Ile1022Thr) c.3671T>C (p.Ile1224Thr) c.4025T>C (p.Ile1342Thr) | |
2 | g.25742492A>T | CA346075673 | ASXL2 | c.3842T>A (p.Ile1281Asn) c.3845T>A (p.Ile1282Asn) c.3761T>A (p.Ile1254Asn) c.2294T>A (p.Ile765Asn) c.3479T>A (p.Ile1160Asn) c.3065T>A (p.Ile1022Asn) c.3671T>A (p.Ile1224Asn) c.4025T>A (p.Ile1342Asn) | |
2 | g.25742493T>A | CA1557416 | ASXL2 | c.3841A>T (p.Ile1281Phe) c.3844A>T (p.Ile1282Phe) c.3760A>T (p.Ile1254Phe) c.2293A>T (p.Ile765Phe) c.3478A>T (p.Ile1160Phe) c.3064A>T (p.Ile1022Phe) c.3670A>T (p.Ile1224Phe) c.4024A>T (p.Ile1342Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742493T>C | CA346075681 | ASXL2 | c.3841A>G (p.Ile1281Val) c.3844A>G (p.Ile1282Val) c.3760A>G (p.Ile1254Val) c.2293A>G (p.Ile765Val) c.3478A>G (p.Ile1160Val) c.3064A>G (p.Ile1022Val) c.3670A>G (p.Ile1224Val) c.4024A>G (p.Ile1342Val) | gnomAD v4 |
2 | g.25742493T>G | CA346075677 | ASXL2 | c.3841A>C (p.Ile1281Leu) c.3844A>C (p.Ile1282Leu) c.3760A>C (p.Ile1254Leu) c.2293A>C (p.Ile765Leu) c.3478A>C (p.Ile1160Leu) c.3064A>C (p.Ile1022Leu) c.3670A>C (p.Ile1224Leu) c.4024A>C (p.Ile1342Leu) | |
2 | g.25742493T= | CA1239490499 | ASXL2 | c.3841A= (p.Ile1281=) c.3844A= (p.Ile1282=) c.3760A= (p.Ile1254=) c.2293A= (p.Ile765=) c.3478A= (p.Ile1160=) c.3064A= (p.Ile1022=) c.3670A= (p.Ile1224=) c.4024A= (p.Ile1342=) | |
2 | g.25742494T>A | CA425353694 | ASXL2 | c.3840A>T (p.Ala1280=) c.3843A>T (p.Ala1281=) c.3759A>T (p.Ala1253=) c.2292A>T (p.Ala764=) c.3477A>T (p.Ala1159=) c.3063A>T (p.Ala1021=) c.3669A>T (p.Ala1223=) c.4023A>T (p.Ala1341=) | |
2 | g.25742494T>C | CA425353695 | ASXL2 | c.3840A>G (p.Ala1280=) c.3843A>G (p.Ala1281=) c.3759A>G (p.Ala1253=) c.2292A>G (p.Ala764=) c.3477A>G (p.Ala1159=) c.3063A>G (p.Ala1021=) c.3669A>G (p.Ala1223=) c.4023A>G (p.Ala1341=) | |
2 | g.25742494T>G | CA425353696 | ASXL2 | c.3840A>C (p.Ala1280=) c.3843A>C (p.Ala1281=) c.3759A>C (p.Ala1253=) c.2292A>C (p.Ala764=) c.3477A>C (p.Ala1159=) c.3063A>C (p.Ala1021=) c.3669A>C (p.Ala1223=) c.4023A>C (p.Ala1341=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25742494T= | CA1239490500 | ASXL2 | c.3840A= (p.Ala1280=) c.3843A= (p.Ala1281=) c.3759A= (p.Ala1253=) c.2292A= (p.Ala764=) c.3477A= (p.Ala1159=) c.3063A= (p.Ala1021=) c.3669A= (p.Ala1223=) c.4023A= (p.Ala1341=) | |
2 | g.25742494_25742495insAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTG | CA531761031 | ASXL2 | c.3839_3840insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT (p.Ile1281ThrfsTer15) c.3842_3843insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT (p.Ile1282ThrfsTer15) c.3758_3759insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT (p.Ile1254ThrfsTer15) c.2291_2292insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT (p.Ile765ThrfsTer15) c.3476_3477insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT (p.Ile1160ThrfsTer15) c.3062_3063insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT (p.Ile1022ThrfsTer15) c.3668_3669insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT (p.Ile1224ThrfsTer15) c.4022_4023insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT (p.Ile1342ThrfsTer15) | dbSNP gnomAD v2 |
2 | g.25742495G>A | CA346075688 | ASXL2 | c.3839C>T (p.Ala1280Val) c.3842C>T (p.Ala1281Val) c.3758C>T (p.Ala1253Val) c.2291C>T (p.Ala764Val) c.3476C>T (p.Ala1159Val) c.3062C>T (p.Ala1021Val) c.3668C>T (p.Ala1223Val) c.4022C>T (p.Ala1341Val) | |
2 | g.25742495G>C | CA346075690 | ASXL2 | c.3839C>G (p.Ala1280Gly) c.3842C>G (p.Ala1281Gly) c.3758C>G (p.Ala1253Gly) c.2291C>G (p.Ala764Gly) c.3476C>G (p.Ala1159Gly) c.3062C>G (p.Ala1021Gly) c.3668C>G (p.Ala1223Gly) c.4022C>G (p.Ala1341Gly) | |
2 | g.25742495G>T | CA346075691 | ASXL2 | c.3839C>A (p.Ala1280Glu) c.3842C>A (p.Ala1281Glu) c.3758C>A (p.Ala1253Glu) c.2291C>A (p.Ala764Glu) c.3476C>A (p.Ala1159Glu) c.3062C>A (p.Ala1021Glu) c.3668C>A (p.Ala1223Glu) c.4022C>A (p.Ala1341Glu) | |
2 | g.25742496C>A | CA346075696 | ASXL2 | c.3838G>T (p.Ala1280Ser) c.3841G>T (p.Ala1281Ser) c.3757G>T (p.Ala1253Ser) c.2290G>T (p.Ala764Ser) c.3475G>T (p.Ala1159Ser) c.3061G>T (p.Ala1021Ser) c.3667G>T (p.Ala1223Ser) c.4021G>T (p.Ala1341Ser) | |
2 | g.25742496C>G | CA346075698 | ASXL2 | c.3838G>C (p.Ala1280Pro) c.3841G>C (p.Ala1281Pro) c.3757G>C (p.Ala1253Pro) c.2290G>C (p.Ala764Pro) c.3475G>C (p.Ala1159Pro) c.3061G>C (p.Ala1021Pro) c.3667G>C (p.Ala1223Pro) c.4021G>C (p.Ala1341Pro) | |
2 | g.25742496C>T | CA346075702 | ASXL2 | c.3838G>A (p.Ala1280Thr) c.3841G>A (p.Ala1281Thr) c.3757G>A (p.Ala1253Thr) c.2290G>A (p.Ala764Thr) c.3475G>A (p.Ala1159Thr) c.3061G>A (p.Ala1021Thr) c.3667G>A (p.Ala1223Thr) c.4021G>A (p.Ala1341Thr) | |
2 | g.25742497C>A | CA346075704 | ASXL2 | c.3837G>T (p.Lys1279Asn) c.3840G>T (p.Lys1280Asn) c.3756G>T (p.Lys1252Asn) c.2289G>T (p.Lys763Asn) c.3474G>T (p.Lys1158Asn) c.3060G>T (p.Lys1020Asn) c.3666G>T (p.Lys1222Asn) c.4020G>T (p.Lys1340Asn) | |
2 | g.25742497C= | CA1239490501 | ASXL2 | c.3837G= (p.Lys1279=) c.3840G= (p.Lys1280=) c.3756G= (p.Lys1252=) c.2289G= (p.Lys763=) c.3474G= (p.Lys1158=) c.3060G= (p.Lys1020=) c.3666G= (p.Lys1222=) c.4020G= (p.Lys1340=) | |
2 | g.25742497C>G | CA346075706 | ASXL2 | c.3837G>C (p.Lys1279Asn) c.3840G>C (p.Lys1280Asn) c.3756G>C (p.Lys1252Asn) c.2289G>C (p.Lys763Asn) c.3474G>C (p.Lys1158Asn) c.3060G>C (p.Lys1020Asn) c.3666G>C (p.Lys1222Asn) c.4020G>C (p.Lys1340Asn) | |
2 | g.25742497C>T | CA425353697 | ASXL2 | c.3837G>A (p.Lys1279=) c.3840G>A (p.Lys1280=) c.3756G>A (p.Lys1252=) c.2289G>A (p.Lys763=) c.3474G>A (p.Lys1158=) c.3060G>A (p.Lys1020=) c.3666G>A (p.Lys1222=) c.4020G>A (p.Lys1340=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742498T>A | CA346075709 | ASXL2 | c.3836A>T (p.Lys1279Met) c.3839A>T (p.Lys1280Met) c.3755A>T (p.Lys1252Met) c.2288A>T (p.Lys763Met) c.3473A>T (p.Lys1158Met) c.3059A>T (p.Lys1020Met) c.3665A>T (p.Lys1222Met) c.4019A>T (p.Lys1340Met) | ClinVar gnomAD v4 |
2 | g.25742498T>C | CA346075711 | ASXL2 | c.3836A>G (p.Lys1279Arg) c.3839A>G (p.Lys1280Arg) c.3755A>G (p.Lys1252Arg) c.2288A>G (p.Lys763Arg) c.3473A>G (p.Lys1158Arg) c.3059A>G (p.Lys1020Arg) c.3665A>G (p.Lys1222Arg) c.4019A>G (p.Lys1340Arg) | |
2 | g.25742498T>G | CA346075714 | ASXL2 | c.3836A>C (p.Lys1279Thr) c.3839A>C (p.Lys1280Thr) c.3755A>C (p.Lys1252Thr) c.2288A>C (p.Lys763Thr) c.3473A>C (p.Lys1158Thr) c.3059A>C (p.Lys1020Thr) c.3665A>C (p.Lys1222Thr) c.4019A>C (p.Lys1340Thr) | ClinVar dbSNP |
2 | g.25742498T= | CA1239490502 | ASXL2 | c.3836A= (p.Lys1279=) c.3839A= (p.Lys1280=) c.3755A= (p.Lys1252=) c.2288A= (p.Lys763=) c.3473A= (p.Lys1158=) c.3059A= (p.Lys1020=) c.3665A= (p.Lys1222=) c.4019A= (p.Lys1340=) | |
2 | g.25742499T>A | CA346075725 | ASXL2 | c.3835A>T (p.Lys1279Ter) c.3838A>T (p.Lys1280Ter) c.3754A>T (p.Lys1252Ter) c.2287A>T (p.Lys763Ter) c.3472A>T (p.Lys1158Ter) c.3058A>T (p.Lys1020Ter) c.3664A>T (p.Lys1222Ter) c.4018A>T (p.Lys1340Ter) | |
2 | g.25742499T>C | CA346075721 | ASXL2 | c.3835A>G (p.Lys1279Glu) c.3838A>G (p.Lys1280Glu) c.3754A>G (p.Lys1252Glu) c.2287A>G (p.Lys763Glu) c.3472A>G (p.Lys1158Glu) c.3058A>G (p.Lys1020Glu) c.3664A>G (p.Lys1222Glu) c.4018A>G (p.Lys1340Glu) | dbSNP gnomAD v4 |
2 | g.25742499T>G | CA346075718 | ASXL2 | c.3835A>C (p.Lys1279Gln) c.3838A>C (p.Lys1280Gln) c.3754A>C (p.Lys1252Gln) c.2287A>C (p.Lys763Gln) c.3472A>C (p.Lys1158Gln) c.3058A>C (p.Lys1020Gln) c.3664A>C (p.Lys1222Gln) c.4018A>C (p.Lys1340Gln) | |
2 | g.25742499T= | CA1239490503 | ASXL2 | c.3835A= (p.Lys1279=) c.3838A= (p.Lys1280=) c.3754A= (p.Lys1252=) c.2287A= (p.Lys763=) c.3472A= (p.Lys1158=) c.3058A= (p.Lys1020=) c.3664A= (p.Lys1222=) c.4018A= (p.Lys1340=) | |
2 | g.25742500A>C | CA425353699 | ASXL2 | c.3834T>G (p.Gly1278=) c.3837T>G (p.Gly1279=) c.3753T>G (p.Gly1251=) c.2286T>G (p.Gly762=) c.3471T>G (p.Gly1157=) c.3057T>G (p.Gly1019=) c.3663T>G (p.Gly1221=) c.4017T>G (p.Gly1339=) | gnomAD v4 |
2 | g.25742500A>G | CA425353700 | ASXL2 | c.3834T>C (p.Gly1278=) c.3837T>C (p.Gly1279=) c.3753T>C (p.Gly1251=) c.2286T>C (p.Gly762=) c.3471T>C (p.Gly1157=) c.3057T>C (p.Gly1019=) c.3663T>C (p.Gly1221=) c.4017T>C (p.Gly1339=) | |
2 | g.25742500A>T | CA425353698 | ASXL2 | c.3834T>A (p.Gly1278=) c.3837T>A (p.Gly1279=) c.3753T>A (p.Gly1251=) c.2286T>A (p.Gly762=) c.3471T>A (p.Gly1157=) c.3057T>A (p.Gly1019=) c.3663T>A (p.Gly1221=) c.4017T>A (p.Gly1339=) | |
2 | g.25742501C>A | CA346075728 | ASXL2 | c.3833G>T (p.Gly1278Val) c.3836G>T (p.Gly1279Val) c.3752G>T (p.Gly1251Val) c.2285G>T (p.Gly762Val) c.3470G>T (p.Gly1157Val) c.3056G>T (p.Gly1019Val) c.3662G>T (p.Gly1221Val) c.4016G>T (p.Gly1339Val) | |
2 | g.25742501C>G | CA346075730 | ASXL2 | c.3833G>C (p.Gly1278Ala) c.3836G>C (p.Gly1279Ala) c.3752G>C (p.Gly1251Ala) c.2285G>C (p.Gly762Ala) c.3470G>C (p.Gly1157Ala) c.3056G>C (p.Gly1019Ala) c.3662G>C (p.Gly1221Ala) c.4016G>C (p.Gly1339Ala) | |
2 | g.25742501C>T | CA346075733 | ASXL2 | c.3833G>A (p.Gly1278Asp) c.3836G>A (p.Gly1279Asp) c.3752G>A (p.Gly1251Asp) c.2285G>A (p.Gly762Asp) c.3470G>A (p.Gly1157Asp) c.3056G>A (p.Gly1019Asp) c.3662G>A (p.Gly1221Asp) c.4016G>A (p.Gly1339Asp) | |
2 | g.25742502C>A | CA346075736 | ASXL2 | c.3832G>T (p.Gly1278Cys) c.3835G>T (p.Gly1279Cys) c.3751G>T (p.Gly1251Cys) c.2284G>T (p.Gly762Cys) c.3469G>T (p.Gly1157Cys) c.3055G>T (p.Gly1019Cys) c.3661G>T (p.Gly1221Cys) c.4015G>T (p.Gly1339Cys) | |
2 | g.25742502C= | CA1239490504 | ASXL2 | c.3832G= (p.Gly1278=) c.3835G= (p.Gly1279=) c.3751G= (p.Gly1251=) c.2284G= (p.Gly762=) c.3469G= (p.Gly1157=) c.3055G= (p.Gly1019=) c.3661G= (p.Gly1221=) c.4015G= (p.Gly1339=) | |
2 | g.25742502C>G | CA346075737 | ASXL2 | c.3832G>C (p.Gly1278Arg) c.3835G>C (p.Gly1279Arg) c.3751G>C (p.Gly1251Arg) c.2284G>C (p.Gly762Arg) c.3469G>C (p.Gly1157Arg) c.3055G>C (p.Gly1019Arg) c.3661G>C (p.Gly1221Arg) c.4015G>C (p.Gly1339Arg) | |
2 | g.25742502C>T | CA346075738 | ASXL2 | c.3832G>A (p.Gly1278Ser) c.3835G>A (p.Gly1279Ser) c.3751G>A (p.Gly1251Ser) c.2284G>A (p.Gly762Ser) c.3469G>A (p.Gly1157Ser) c.3055G>A (p.Gly1019Ser) c.3661G>A (p.Gly1221Ser) c.4015G>A (p.Gly1339Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25742503T>A | CA346075739 | ASXL2 | c.3831A>T (p.Arg1277Ser) c.3834A>T (p.Arg1278Ser) c.3750A>T (p.Arg1250Ser) c.2283A>T (p.Arg761Ser) c.3468A>T (p.Arg1156Ser) c.3054A>T (p.Arg1018Ser) c.3660A>T (p.Arg1220Ser) c.4014A>T (p.Arg1338Ser) | |
2 | g.25742503T>C | CA425353701 | ASXL2 | c.3831A>G (p.Arg1277=) c.3834A>G (p.Arg1278=) c.3750A>G (p.Arg1250=) c.2283A>G (p.Arg761=) c.3468A>G (p.Arg1156=) c.3054A>G (p.Arg1018=) c.3660A>G (p.Arg1220=) c.4014A>G (p.Arg1338=) | |
2 | g.25742503T>G | CA346075740 | ASXL2 | c.3831A>C (p.Arg1277Ser) c.3834A>C (p.Arg1278Ser) c.3750A>C (p.Arg1250Ser) c.2283A>C (p.Arg761Ser) c.3468A>C (p.Arg1156Ser) c.3054A>C (p.Arg1018Ser) c.3660A>C (p.Arg1220Ser) c.4014A>C (p.Arg1338Ser) | |
2 | g.25742504C>A | CA346075742 | ASXL2 | c.3830G>T (p.Arg1277Ile) c.3833G>T (p.Arg1278Ile) c.3749G>T (p.Arg1250Ile) c.2282G>T (p.Arg761Ile) c.3467G>T (p.Arg1156Ile) c.3053G>T (p.Arg1018Ile) c.3659G>T (p.Arg1220Ile) c.4013G>T (p.Arg1338Ile) | |
2 | g.25742504C= | CA1239490505 | ASXL2 | c.3830G= (p.Arg1277=) c.3833G= (p.Arg1278=) c.3749G= (p.Arg1250=) c.2282G= (p.Arg761=) c.3467G= (p.Arg1156=) c.3053G= (p.Arg1018=) c.3659G= (p.Arg1220=) c.4013G= (p.Arg1338=) | |
2 | g.25742504C>G | CA346075754 | ASXL2 | c.3830G>C (p.Arg1277Thr) c.3833G>C (p.Arg1278Thr) c.3749G>C (p.Arg1250Thr) c.2282G>C (p.Arg761Thr) c.3467G>C (p.Arg1156Thr) c.3053G>C (p.Arg1018Thr) c.3659G>C (p.Arg1220Thr) c.4013G>C (p.Arg1338Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742504C>T | CA346075758 | ASXL2 | c.3830G>A (p.Arg1277Lys) c.3833G>A (p.Arg1278Lys) c.3749G>A (p.Arg1250Lys) c.2282G>A (p.Arg761Lys) c.3467G>A (p.Arg1156Lys) c.3053G>A (p.Arg1018Lys) c.3659G>A (p.Arg1220Lys) c.4013G>A (p.Arg1338Lys) | |
2 | g.25742505T>A | CA346075761 | ASXL2 | c.3829A>T (p.Arg1277Ter) c.3832A>T (p.Arg1278Ter) c.3748A>T (p.Arg1250Ter) c.2281A>T (p.Arg761Ter) c.3466A>T (p.Arg1156Ter) c.3052A>T (p.Arg1018Ter) c.3658A>T (p.Arg1220Ter) c.4012A>T (p.Arg1338Ter) | |
2 | g.25742505T>C | CA346075763 | ASXL2 | c.3829A>G (p.Arg1277Gly) c.3832A>G (p.Arg1278Gly) c.3748A>G (p.Arg1250Gly) c.2281A>G (p.Arg761Gly) c.3466A>G (p.Arg1156Gly) c.3052A>G (p.Arg1018Gly) c.3658A>G (p.Arg1220Gly) c.4012A>G (p.Arg1338Gly) | |
2 | g.25742505T>G | CA425353702 | ASXL2 | c.3829A>C (p.Arg1277=) c.3832A>C (p.Arg1278=) c.3748A>C (p.Arg1250=) c.2281A>C (p.Arg761=) c.3466A>C (p.Arg1156=) c.3052A>C (p.Arg1018=) c.3658A>C (p.Arg1220=) c.4012A>C (p.Arg1338=) | |
2 | g.25742506C>A | CA425353703 | ASXL2 | c.3828G>T (p.Val1276=) c.3831G>T (p.Val1277=) c.3747G>T (p.Val1249=) c.2280G>T (p.Val760=) c.3465G>T (p.Val1155=) c.3051G>T (p.Val1017=) c.3657G>T (p.Val1219=) c.4011G>T (p.Val1337=) | |
2 | g.25742506C>G | CA425353705 | ASXL2 | c.3828G>C (p.Val1276=) c.3831G>C (p.Val1277=) c.3747G>C (p.Val1249=) c.2280G>C (p.Val760=) c.3465G>C (p.Val1155=) c.3051G>C (p.Val1017=) c.3657G>C (p.Val1219=) c.4011G>C (p.Val1337=) | |
2 | g.25742506C>T | CA425353704 | ASXL2 | c.3828G>A (p.Val1276=) c.3831G>A (p.Val1277=) c.3747G>A (p.Val1249=) c.2280G>A (p.Val760=) c.3465G>A (p.Val1155=) c.3051G>A (p.Val1017=) c.3657G>A (p.Val1219=) c.4011G>A (p.Val1337=) | |
2 | g.25742507A= | CA1239490506 | ASXL2 | c.3827T= (p.Val1276=) c.3830T= (p.Val1277=) c.3746T= (p.Val1249=) c.2279T= (p.Val760=) c.3464T= (p.Val1155=) c.3050T= (p.Val1017=) c.3656T= (p.Val1219=) c.4010T= (p.Val1337=) | |
2 | g.25742507A>C | CA346075771 | ASXL2 | c.3827T>G (p.Val1276Gly) c.3830T>G (p.Val1277Gly) c.3746T>G (p.Val1249Gly) c.2279T>G (p.Val760Gly) c.3464T>G (p.Val1155Gly) c.3050T>G (p.Val1017Gly) c.3656T>G (p.Val1219Gly) c.4010T>G (p.Val1337Gly) | |
2 | g.25742507A>G | CA1557417 | ASXL2 | c.3827T>C (p.Val1276Ala) c.3830T>C (p.Val1277Ala) c.3746T>C (p.Val1249Ala) c.2279T>C (p.Val760Ala) c.3464T>C (p.Val1155Ala) c.3050T>C (p.Val1017Ala) c.3656T>C (p.Val1219Ala) c.4010T>C (p.Val1337Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742507A>T | CA346075769 | ASXL2 | c.3827T>A (p.Val1276Glu) c.3830T>A (p.Val1277Glu) c.3746T>A (p.Val1249Glu) c.2279T>A (p.Val760Glu) c.3464T>A (p.Val1155Glu) c.3050T>A (p.Val1017Glu) c.3656T>A (p.Val1219Glu) c.4010T>A (p.Val1337Glu) | |
2 | g.25742508C>A | CA346075774 | ASXL2 | c.3826G>T (p.Val1276Leu) c.3829G>T (p.Val1277Leu) c.3745G>T (p.Val1249Leu) c.2278G>T (p.Val760Leu) c.3463G>T (p.Val1155Leu) c.3049G>T (p.Val1017Leu) c.3655G>T (p.Val1219Leu) c.4009G>T (p.Val1337Leu) | |
2 | g.25742508C>G | CA346075777 | ASXL2 | c.3826G>C (p.Val1276Leu) c.3829G>C (p.Val1277Leu) c.3745G>C (p.Val1249Leu) c.2278G>C (p.Val760Leu) c.3463G>C (p.Val1155Leu) c.3049G>C (p.Val1017Leu) c.3655G>C (p.Val1219Leu) c.4009G>C (p.Val1337Leu) | ClinVar |
2 | g.25742508C>T | CA346075780 | ASXL2 | c.3826G>A (p.Val1276Met) c.3829G>A (p.Val1277Met) c.3745G>A (p.Val1249Met) c.2278G>A (p.Val760Met) c.3463G>A (p.Val1155Met) c.3049G>A (p.Val1017Met) c.3655G>A (p.Val1219Met) c.4009G>A (p.Val1337Met) | |
2 | g.25742509T>A | CA425353706 | ASXL2 | c.3825A>T (p.Ala1275=) c.3828A>T (p.Ala1276=) c.3744A>T (p.Ala1248=) c.2277A>T (p.Ala759=) c.3462A>T (p.Ala1154=) c.3048A>T (p.Ala1016=) c.3654A>T (p.Ala1218=) c.4008A>T (p.Ala1336=) | |
2 | g.25742509T>C | CA43734310 | ASXL2 | c.3825A>G (p.Ala1275=) c.3828A>G (p.Ala1276=) c.3744A>G (p.Ala1248=) c.2277A>G (p.Ala759=) c.3462A>G (p.Ala1154=) c.3048A>G (p.Ala1016=) c.3654A>G (p.Ala1218=) c.4008A>G (p.Ala1336=) | dbSNP |
2 | g.25742509T>G | CA425353707 | ASXL2 | c.3825A>C (p.Ala1275=) c.3828A>C (p.Ala1276=) c.3744A>C (p.Ala1248=) c.2277A>C (p.Ala759=) c.3462A>C (p.Ala1154=) c.3048A>C (p.Ala1016=) c.3654A>C (p.Ala1218=) c.4008A>C (p.Ala1336=) | |
2 | g.25742509T= | CA1239490507 | ASXL2 | c.3825A= (p.Ala1275=) c.3828A= (p.Ala1276=) c.3744A= (p.Ala1248=) c.2277A= (p.Ala759=) c.3462A= (p.Ala1154=) c.3048A= (p.Ala1016=) c.3654A= (p.Ala1218=) c.4008A= (p.Ala1336=) | |
2 | g.25742510G>A | CA346075783 | ASXL2 | c.3824C>T (p.Ala1275Val) c.3827C>T (p.Ala1276Val) c.3743C>T (p.Ala1248Val) c.2276C>T (p.Ala759Val) c.3461C>T (p.Ala1154Val) c.3047C>T (p.Ala1016Val) c.3653C>T (p.Ala1218Val) c.4007C>T (p.Ala1336Val) | gnomAD v4 |
2 | g.25742510G>C | CA346075786 | ASXL2 | c.3824C>G (p.Ala1275Gly) c.3827C>G (p.Ala1276Gly) c.3743C>G (p.Ala1248Gly) c.2276C>G (p.Ala759Gly) c.3461C>G (p.Ala1154Gly) c.3047C>G (p.Ala1016Gly) c.3653C>G (p.Ala1218Gly) c.4007C>G (p.Ala1336Gly) | |
2 | g.25742510G>T | CA346075789 | ASXL2 | c.3824C>A (p.Ala1275Glu) c.3827C>A (p.Ala1276Glu) c.3743C>A (p.Ala1248Glu) c.2276C>A (p.Ala759Glu) c.3461C>A (p.Ala1154Glu) c.3047C>A (p.Ala1016Glu) c.3653C>A (p.Ala1218Glu) c.4007C>A (p.Ala1336Glu) | |
2 | g.25742511C>A | CA346075792 | ASXL2 | c.3823G>T (p.Ala1275Ser) c.3826G>T (p.Ala1276Ser) c.3742G>T (p.Ala1248Ser) c.2275G>T (p.Ala759Ser) c.3460G>T (p.Ala1154Ser) c.3046G>T (p.Ala1016Ser) c.3652G>T (p.Ala1218Ser) c.4006G>T (p.Ala1336Ser) | |
2 | g.25742511C>G | CA346075795 | ASXL2 | c.3823G>C (p.Ala1275Pro) c.3826G>C (p.Ala1276Pro) c.3742G>C (p.Ala1248Pro) c.2275G>C (p.Ala759Pro) c.3460G>C (p.Ala1154Pro) c.3046G>C (p.Ala1016Pro) c.3652G>C (p.Ala1218Pro) c.4006G>C (p.Ala1336Pro) | |
2 | g.25742511C>T | CA346075798 | ASXL2 | c.3823G>A (p.Ala1275Thr) c.3826G>A (p.Ala1276Thr) c.3742G>A (p.Ala1248Thr) c.2275G>A (p.Ala759Thr) c.3460G>A (p.Ala1154Thr) c.3046G>A (p.Ala1016Thr) c.3652G>A (p.Ala1218Thr) c.4006G>A (p.Ala1336Thr) | |
2 | g.25742512A= | CA1239490508 | ASXL2 | c.3822T= (p.His1274=) c.3825T= (p.His1275=) c.3741T= (p.His1247=) c.2274T= (p.His758=) c.3459T= (p.His1153=) c.3045T= (p.His1015=) c.3651T= (p.His1217=) c.4005T= (p.His1335=) | |
2 | g.25742512A>C | CA346075801 | ASXL2 | c.3822T>G (p.His1274Gln) c.3825T>G (p.His1275Gln) c.3741T>G (p.His1247Gln) c.2274T>G (p.His758Gln) c.3459T>G (p.His1153Gln) c.3045T>G (p.His1015Gln) c.3651T>G (p.His1217Gln) c.4005T>G (p.His1335Gln) | |
2 | g.25742512A>G | CA43734314 | ASXL2 | c.3822T>C (p.His1274=) c.3825T>C (p.His1275=) c.3741T>C (p.His1247=) c.2274T>C (p.His758=) c.3459T>C (p.His1153=) c.3045T>C (p.His1015=) c.3651T>C (p.His1217=) c.4005T>C (p.His1335=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742512A>T | CA346075805 | ASXL2 | c.3822T>A (p.His1274Gln) c.3825T>A (p.His1275Gln) c.3741T>A (p.His1247Gln) c.2274T>A (p.His758Gln) c.3459T>A (p.His1153Gln) c.3045T>A (p.His1015Gln) c.3651T>A (p.His1217Gln) c.4005T>A (p.His1335Gln) | |
2 | g.25742513T>A | CA346075812 | ASXL2 | c.3821A>T (p.His1274Leu) c.3824A>T (p.His1275Leu) c.3740A>T (p.His1247Leu) c.2273A>T (p.His758Leu) c.3458A>T (p.His1153Leu) c.3044A>T (p.His1015Leu) c.3650A>T (p.His1217Leu) c.4004A>T (p.His1335Leu) | |
2 | g.25742513T>C | CA346075813 | ASXL2 | c.3821A>G (p.His1274Arg) c.3824A>G (p.His1275Arg) c.3740A>G (p.His1247Arg) c.2273A>G (p.His758Arg) c.3458A>G (p.His1153Arg) c.3044A>G (p.His1015Arg) c.3650A>G (p.His1217Arg) c.4004A>G (p.His1335Arg) | gnomAD v4 |
2 | g.25742513T>G | CA346075809 | ASXL2 | c.3821A>C (p.His1274Pro) c.3824A>C (p.His1275Pro) c.3740A>C (p.His1247Pro) c.2273A>C (p.His758Pro) c.3458A>C (p.His1153Pro) c.3044A>C (p.His1015Pro) c.3650A>C (p.His1217Pro) c.4004A>C (p.His1335Pro) | dbSNP gnomAD v4 |
2 | g.25742513T= | CA1239490509 | ASXL2 | c.3821A= (p.His1274=) c.3824A= (p.His1275=) c.3740A= (p.His1247=) c.2273A= (p.His758=) c.3458A= (p.His1153=) c.3044A= (p.His1015=) c.3650A= (p.His1217=) c.4004A= (p.His1335=) | |
2 | g.25742514G>A | CA1557418 | ASXL2 | c.3820C>T (p.His1274Tyr) c.3823C>T (p.His1275Tyr) c.3739C>T (p.His1247Tyr) c.2272C>T (p.His758Tyr) c.3457C>T (p.His1153Tyr) c.3043C>T (p.His1015Tyr) c.3649C>T (p.His1217Tyr) c.4003C>T (p.His1335Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742514G>C | CA346075817 | ASXL2 | c.3820C>G (p.His1274Asp) c.3823C>G (p.His1275Asp) c.3739C>G (p.His1247Asp) c.2272C>G (p.His758Asp) c.3457C>G (p.His1153Asp) c.3043C>G (p.His1015Asp) c.3649C>G (p.His1217Asp) c.4003C>G (p.His1335Asp) | |
2 | g.25742514G= | CA1239490510 | ASXL2 | c.3820C= (p.His1274=) c.3823C= (p.His1275=) c.3739C= (p.His1247=) c.2272C= (p.His758=) c.3457C= (p.His1153=) c.3043C= (p.His1015=) c.3649C= (p.His1217=) c.4003C= (p.His1335=) | |
2 | g.25742514G>T | CA346075823 | ASXL2 | c.3820C>A (p.His1274Asn) c.3823C>A (p.His1275Asn) c.3739C>A (p.His1247Asn) c.2272C>A (p.His758Asn) c.3457C>A (p.His1153Asn) c.3043C>A (p.His1015Asn) c.3649C>A (p.His1217Asn) c.4003C>A (p.His1335Asn) | |
2 | g.25742515A>C | CA425353708 | ASXL2 | c.3819T>G (p.Ala1273=) c.3822T>G (p.Ala1274=) c.3738T>G (p.Ala1246=) c.2271T>G (p.Ala757=) c.3456T>G (p.Ala1152=) c.3042T>G (p.Ala1014=) c.3648T>G (p.Ala1216=) c.4002T>G (p.Ala1334=) | |
2 | g.25742515A>G | CA425353709 | ASXL2 | c.3819T>C (p.Ala1273=) c.3822T>C (p.Ala1274=) c.3738T>C (p.Ala1246=) c.2271T>C (p.Ala757=) c.3456T>C (p.Ala1152=) c.3042T>C (p.Ala1014=) c.3648T>C (p.Ala1216=) c.4002T>C (p.Ala1334=) | |
2 | g.25742515A>T | CA425353710 | ASXL2 | c.3819T>A (p.Ala1273=) c.3822T>A (p.Ala1274=) c.3738T>A (p.Ala1246=) c.2271T>A (p.Ala757=) c.3456T>A (p.Ala1152=) c.3042T>A (p.Ala1014=) c.3648T>A (p.Ala1216=) c.4002T>A (p.Ala1334=) | |
2 | g.25742516G>A | CA346075827 | ASXL2 | c.3818C>T (p.Ala1273Val) c.3821C>T (p.Ala1274Val) c.3737C>T (p.Ala1246Val) c.2270C>T (p.Ala757Val) c.3455C>T (p.Ala1152Val) c.3041C>T (p.Ala1014Val) c.3647C>T (p.Ala1216Val) c.4001C>T (p.Ala1334Val) | |
2 | g.25742516G>C | CA346075831 | ASXL2 | c.3818C>G (p.Ala1273Gly) c.3821C>G (p.Ala1274Gly) c.3737C>G (p.Ala1246Gly) c.2270C>G (p.Ala757Gly) c.3455C>G (p.Ala1152Gly) c.3041C>G (p.Ala1014Gly) c.3647C>G (p.Ala1216Gly) c.4001C>G (p.Ala1334Gly) | |
2 | g.25742516G>T | CA346075830 | ASXL2 | c.3818C>A (p.Ala1273Asp) c.3821C>A (p.Ala1274Asp) c.3737C>A (p.Ala1246Asp) c.2270C>A (p.Ala757Asp) c.3455C>A (p.Ala1152Asp) c.3041C>A (p.Ala1014Asp) c.3647C>A (p.Ala1216Asp) c.4001C>A (p.Ala1334Asp) | |
2 | g.25742517C>A | CA346075832 | ASXL2 | c.3817G>T (p.Ala1273Ser) c.3820G>T (p.Ala1274Ser) c.3736G>T (p.Ala1246Ser) c.2269G>T (p.Ala757Ser) c.3454G>T (p.Ala1152Ser) c.3040G>T (p.Ala1014Ser) c.3646G>T (p.Ala1216Ser) c.4000G>T (p.Ala1334Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25742517C= | CA1239490511 | ASXL2 | c.3817G= (p.Ala1273=) c.3820G= (p.Ala1274=) c.3736G= (p.Ala1246=) c.2269G= (p.Ala757=) c.3454G= (p.Ala1152=) c.3040G= (p.Ala1014=) c.3646G= (p.Ala1216=) c.4000G= (p.Ala1334=) | |
2 | g.25742517C>G | CA43734318 | ASXL2 | c.3817G>C (p.Ala1273Pro) c.3820G>C (p.Ala1274Pro) c.3736G>C (p.Ala1246Pro) c.2269G>C (p.Ala757Pro) c.3454G>C (p.Ala1152Pro) c.3040G>C (p.Ala1014Pro) c.3646G>C (p.Ala1216Pro) c.4000G>C (p.Ala1334Pro) | dbSNP |
2 | g.25742517C>T | CA346075836 | ASXL2 | c.3817G>A (p.Ala1273Thr) c.3820G>A (p.Ala1274Thr) c.3736G>A (p.Ala1246Thr) c.2269G>A (p.Ala757Thr) c.3454G>A (p.Ala1152Thr) c.3040G>A (p.Ala1014Thr) c.3646G>A (p.Ala1216Thr) c.4000G>A (p.Ala1334Thr) | |
2 | g.25742518C>A | CA346075842 | ASXL2 | c.3816G>T (p.Met1272Ile) c.3819G>T (p.Met1273Ile) c.3735G>T (p.Met1245Ile) c.2268G>T (p.Met756Ile) c.3453G>T (p.Met1151Ile) c.3039G>T (p.Met1013Ile) c.3645G>T (p.Met1215Ile) c.3999G>T (p.Met1333Ile) | gnomAD v4 |
2 | g.25742518C>G | CA346075845 | ASXL2 | c.3816G>C (p.Met1272Ile) c.3819G>C (p.Met1273Ile) c.3735G>C (p.Met1245Ile) c.2268G>C (p.Met756Ile) c.3453G>C (p.Met1151Ile) c.3039G>C (p.Met1013Ile) c.3645G>C (p.Met1215Ile) c.3999G>C (p.Met1333Ile) | |
2 | g.25742518C>T | CA346075847 | ASXL2 | c.3816G>A (p.Met1272Ile) c.3819G>A (p.Met1273Ile) c.3735G>A (p.Met1245Ile) c.2268G>A (p.Met756Ile) c.3453G>A (p.Met1151Ile) c.3039G>A (p.Met1013Ile) c.3645G>A (p.Met1215Ile) c.3999G>A (p.Met1333Ile) | ClinVar dbSNP |
2 | g.25742519A>C | CA346075849 | ASXL2 | c.3815T>G (p.Met1272Arg) c.3818T>G (p.Met1273Arg) c.3734T>G (p.Met1245Arg) c.2267T>G (p.Met756Arg) c.3452T>G (p.Met1151Arg) c.3038T>G (p.Met1013Arg) c.3644T>G (p.Met1215Arg) c.3998T>G (p.Met1333Arg) | |
2 | g.25742519A>G | CA346075852 | ASXL2 | c.3815T>C (p.Met1272Thr) c.3818T>C (p.Met1273Thr) c.3734T>C (p.Met1245Thr) c.2267T>C (p.Met756Thr) c.3452T>C (p.Met1151Thr) c.3038T>C (p.Met1013Thr) c.3644T>C (p.Met1215Thr) c.3998T>C (p.Met1333Thr) | |
2 | g.25742519A>T | CA346075855 | ASXL2 | c.3815T>A (p.Met1272Lys) c.3818T>A (p.Met1273Lys) c.3734T>A (p.Met1245Lys) c.2267T>A (p.Met756Lys) c.3452T>A (p.Met1151Lys) c.3038T>A (p.Met1013Lys) c.3644T>A (p.Met1215Lys) c.3998T>A (p.Met1333Lys) | |
2 | g.25742520T>A | CA346075858 | ASXL2 | c.3814A>T (p.Met1272Leu) c.3817A>T (p.Met1273Leu) c.3733A>T (p.Met1245Leu) c.2266A>T (p.Met756Leu) c.3451A>T (p.Met1151Leu) c.3037A>T (p.Met1013Leu) c.3643A>T (p.Met1215Leu) c.3997A>T (p.Met1333Leu) | |
2 | g.25742520T>C | CA346075861 | ASXL2 | c.3814A>G (p.Met1272Val) c.3817A>G (p.Met1273Val) c.3733A>G (p.Met1245Val) c.2266A>G (p.Met756Val) c.3451A>G (p.Met1151Val) c.3037A>G (p.Met1013Val) c.3643A>G (p.Met1215Val) c.3997A>G (p.Met1333Val) | |
2 | g.25742520T>G | CA346075865 | ASXL2 | c.3814A>C (p.Met1272Leu) c.3817A>C (p.Met1273Leu) c.3733A>C (p.Met1245Leu) c.2266A>C (p.Met756Leu) c.3451A>C (p.Met1151Leu) c.3037A>C (p.Met1013Leu) c.3643A>C (p.Met1215Leu) c.3997A>C (p.Met1333Leu) | |
2 | g.25742521C>A | CA1557419 | ASXL2 | c.3813G>T (p.Gln1271His) c.3816G>T (p.Gln1272His) c.3732G>T (p.Gln1244His) c.2265G>T (p.Gln755His) c.3450G>T (p.Gln1150His) c.3036G>T (p.Gln1012His) c.3642G>T (p.Gln1214His) c.3996G>T (p.Gln1332His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742521C= | CA1239490512 | ASXL2 | c.3813G= (p.Gln1271=) c.3816G= (p.Gln1272=) c.3732G= (p.Gln1244=) c.2265G= (p.Gln755=) c.3450G= (p.Gln1150=) c.3036G= (p.Gln1012=) c.3642G= (p.Gln1214=) c.3996G= (p.Gln1332=) | |
2 | g.25742521C>G | CA346075873 | ASXL2 | c.3813G>C (p.Gln1271His) c.3816G>C (p.Gln1272His) c.3732G>C (p.Gln1244His) c.2265G>C (p.Gln755His) c.3450G>C (p.Gln1150His) c.3036G>C (p.Gln1012His) c.3642G>C (p.Gln1214His) c.3996G>C (p.Gln1332His) | |
2 | g.25742521C>T | CA1557420 | ASXL2 | c.3813G>A (p.Gln1271=) c.3816G>A (p.Gln1272=) c.3732G>A (p.Gln1244=) c.2265G>A (p.Gln755=) c.3450G>A (p.Gln1150=) c.3036G>A (p.Gln1012=) c.3642G>A (p.Gln1214=) c.3996G>A (p.Gln1332=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |