Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.25742421G>ACA43734274ASXL2c.3913C>T (p.Leu1305=)
c.3916C>T (p.Leu1306=)
c.3832C>T (p.Leu1278=)
c.2365C>T (p.Leu789=)
c.3550C>T (p.Leu1184=)
c.3136C>T (p.Leu1046=)
c.3742C>T (p.Leu1248=)
c.4096C>T (p.Leu1366=)
dbSNP
2g.25742421G>CCA346075253ASXL2c.3913C>G (p.Leu1305Val)
c.3916C>G (p.Leu1306Val)
c.3832C>G (p.Leu1278Val)
c.2365C>G (p.Leu789Val)
c.3550C>G (p.Leu1184Val)
c.3136C>G (p.Leu1046Val)
c.3742C>G (p.Leu1248Val)
c.4096C>G (p.Leu1366Val)
2g.25742421G=CA1239490460ASXL2c.3913C= (p.Leu1305=)
c.3916C= (p.Leu1306=)
c.3832C= (p.Leu1278=)
c.2365C= (p.Leu789=)
c.3550C= (p.Leu1184=)
c.3136C= (p.Leu1046=)
c.3742C= (p.Leu1248=)
c.4096C= (p.Leu1366=)
2g.25742421G>TCA346075256ASXL2c.3913C>A (p.Leu1305Ile)
c.3916C>A (p.Leu1306Ile)
c.3832C>A (p.Leu1278Ile)
c.2365C>A (p.Leu789Ile)
c.3550C>A (p.Leu1184Ile)
c.3136C>A (p.Leu1046Ile)
c.3742C>A (p.Leu1248Ile)
c.4096C>A (p.Leu1366Ile)
gnomAD v4
2g.25742428_25742440delCA2658189298ASXL2c.3901_3913del (p.Thr1301TyrfsTer18)
c.3904_3916del (p.Thr1302TyrfsTer18)
c.3820_3832del (p.Thr1274TyrfsTer18)
c.2353_2365del (p.Thr785TyrfsTer18)
c.3538_3550del (p.Thr1180TyrfsTer18)
c.3124_3136del (p.Thr1042TyrfsTer18)
c.3730_3742del (p.Thr1244TyrfsTer18)
c.4084_4096del (p.Thr1362TyrfsTer18)
gnomAD v4
2g.25742422G>ACA425354859ASXL2c.3912C>T (p.Pro1304=)
c.3915C>T (p.Pro1305=)
c.3831C>T (p.Pro1277=)
c.2364C>T (p.Pro788=)
c.3549C>T (p.Pro1183=)
c.3135C>T (p.Pro1045=)
c.3741C>T (p.Pro1247=)
c.4095C>T (p.Pro1365=)
gnomAD v4
2g.25742422G>CCA425354860ASXL2c.3912C>G (p.Pro1304=)
c.3915C>G (p.Pro1305=)
c.3831C>G (p.Pro1277=)
c.2364C>G (p.Pro788=)
c.3549C>G (p.Pro1183=)
c.3135C>G (p.Pro1045=)
c.3741C>G (p.Pro1247=)
c.4095C>G (p.Pro1365=)
2g.25742422G>TCA425354861ASXL2c.3912C>A (p.Pro1304=)
c.3915C>A (p.Pro1305=)
c.3831C>A (p.Pro1277=)
c.2364C>A (p.Pro788=)
c.3549C>A (p.Pro1183=)
c.3135C>A (p.Pro1045=)
c.3741C>A (p.Pro1247=)
c.4095C>A (p.Pro1365=)
2g.25742423G>ACA43734277ASXL2c.3911C>T (p.Pro1304Leu)
c.3914C>T (p.Pro1305Leu)
c.3830C>T (p.Pro1277Leu)
c.2363C>T (p.Pro788Leu)
c.3548C>T (p.Pro1183Leu)
c.3134C>T (p.Pro1045Leu)
c.3740C>T (p.Pro1247Leu)
c.4094C>T (p.Pro1365Leu)
dbSNP
2g.25742423G>CCA346075259ASXL2c.3911C>G (p.Pro1304Arg)
c.3914C>G (p.Pro1305Arg)
c.3830C>G (p.Pro1277Arg)
c.2363C>G (p.Pro788Arg)
c.3548C>G (p.Pro1183Arg)
c.3134C>G (p.Pro1045Arg)
c.3740C>G (p.Pro1247Arg)
c.4094C>G (p.Pro1365Arg)
2g.25742423G=CA1239490461ASXL2c.3911C= (p.Pro1304=)
c.3914C= (p.Pro1305=)
c.3830C= (p.Pro1277=)
c.2363C= (p.Pro788=)
c.3548C= (p.Pro1183=)
c.3134C= (p.Pro1045=)
c.3740C= (p.Pro1247=)
c.4094C= (p.Pro1365=)
2g.25742423G>TCA346075261ASXL2c.3911C>A (p.Pro1304His)
c.3914C>A (p.Pro1305His)
c.3830C>A (p.Pro1277His)
c.2363C>A (p.Pro788His)
c.3548C>A (p.Pro1183His)
c.3134C>A (p.Pro1045His)
c.3740C>A (p.Pro1247His)
c.4094C>A (p.Pro1365His)
gnomAD v4
2g.25742424G>ACA346075266ASXL2c.3910C>T (p.Pro1304Ser)
c.3913C>T (p.Pro1305Ser)
c.3829C>T (p.Pro1277Ser)
c.2362C>T (p.Pro788Ser)
c.3547C>T (p.Pro1183Ser)
c.3133C>T (p.Pro1045Ser)
c.3739C>T (p.Pro1247Ser)
c.4093C>T (p.Pro1365Ser)
dbSNP gnomAD v2 gnomAD v4
2g.25742424G>CCA346075268ASXL2c.3910C>G (p.Pro1304Ala)
c.3913C>G (p.Pro1305Ala)
c.3829C>G (p.Pro1277Ala)
c.2362C>G (p.Pro788Ala)
c.3547C>G (p.Pro1183Ala)
c.3133C>G (p.Pro1045Ala)
c.3739C>G (p.Pro1247Ala)
c.4093C>G (p.Pro1365Ala)
2g.25742424G=CA1239490462ASXL2c.3910C= (p.Pro1304=)
c.3913C= (p.Pro1305=)
c.3829C= (p.Pro1277=)
c.2362C= (p.Pro788=)
c.3547C= (p.Pro1183=)
c.3133C= (p.Pro1045=)
c.3739C= (p.Pro1247=)
c.4093C= (p.Pro1365=)
2g.25742424G>TCA346075271ASXL2c.3910C>A (p.Pro1304Thr)
c.3913C>A (p.Pro1305Thr)
c.3829C>A (p.Pro1277Thr)
c.2362C>A (p.Pro788Thr)
c.3547C>A (p.Pro1183Thr)
c.3133C>A (p.Pro1045Thr)
c.3739C>A (p.Pro1247Thr)
c.4093C>A (p.Pro1365Thr)
gnomAD v4
2g.25742425C>ACA1557398ASXL2c.3909G>T (p.Gln1303His)
c.3912G>T (p.Gln1304His)
c.3828G>T (p.Gln1276His)
c.2361G>T (p.Gln787His)
c.3546G>T (p.Gln1182His)
c.3132G>T (p.Gln1044His)
c.3738G>T (p.Gln1246His)
c.4092G>T (p.Gln1364His)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742425C=CA1239490463ASXL2c.3909G= (p.Gln1303=)
c.3912G= (p.Gln1304=)
c.3828G= (p.Gln1276=)
c.2361G= (p.Gln787=)
c.3546G= (p.Gln1182=)
c.3132G= (p.Gln1044=)
c.3738G= (p.Gln1246=)
c.4092G= (p.Gln1364=)
2g.25742425C>GCA346075276ASXL2c.3909G>C (p.Gln1303His)
c.3912G>C (p.Gln1304His)
c.3828G>C (p.Gln1276His)
c.2361G>C (p.Gln787His)
c.3546G>C (p.Gln1182His)
c.3132G>C (p.Gln1044His)
c.3738G>C (p.Gln1246His)
c.4092G>C (p.Gln1364His)
gnomAD v4
2g.25742425C>TCA425354871ASXL2c.3909G>A (p.Gln1303=)
c.3912G>A (p.Gln1304=)
c.3828G>A (p.Gln1276=)
c.2361G>A (p.Gln787=)
c.3546G>A (p.Gln1182=)
c.3132G>A (p.Gln1044=)
c.3738G>A (p.Gln1246=)
c.4092G>A (p.Gln1364=)
gnomAD v3 gnomAD v4
2g.25742425_25742426delCA2658189299ASXL2c.3908_3909del (p.Gln1303ProfsTer24)
c.3911_3912del (p.Gln1304ProfsTer24)
c.3827_3828del (p.Gln1276ProfsTer24)
c.2360_2361del (p.Gln787ProfsTer24)
c.3545_3546del (p.Gln1182ProfsTer24)
c.3131_3132del (p.Gln1044ProfsTer24)
c.3737_3738del (p.Gln1246ProfsTer24)
c.4091_4092del (p.Gln1364ProfsTer24)
gnomAD v4
2g.25742425_25742429delCA2594414443ASXL2c.3905_3909del (p.His1302ProfsTer24)
c.3908_3912del (p.His1303ProfsTer24)
c.3824_3828del (p.His1275ProfsTer24)
c.2357_2361del (p.His786ProfsTer24)
c.3542_3546del (p.His1181ProfsTer24)
c.3128_3132del (p.His1043ProfsTer24)
c.3734_3738del (p.His1245ProfsTer24)
c.4088_4092del (p.His1363ProfsTer24)
gnomAD v3 gnomAD v4
2g.25742426T>ACA346075279ASXL2c.3908A>T (p.Gln1303Leu)
c.3911A>T (p.Gln1304Leu)
c.3827A>T (p.Gln1276Leu)
c.2360A>T (p.Gln787Leu)
c.3545A>T (p.Gln1182Leu)
c.3131A>T (p.Gln1044Leu)
c.3737A>T (p.Gln1246Leu)
c.4091A>T (p.Gln1364Leu)
2g.25742426T>CCA346075282ASXL2c.3908A>G (p.Gln1303Arg)
c.3911A>G (p.Gln1304Arg)
c.3827A>G (p.Gln1276Arg)
c.2360A>G (p.Gln787Arg)
c.3545A>G (p.Gln1182Arg)
c.3131A>G (p.Gln1044Arg)
c.3737A>G (p.Gln1246Arg)
c.4091A>G (p.Gln1364Arg)
2g.25742426T>GCA346075281ASXL2c.3908A>C (p.Gln1303Pro)
c.3911A>C (p.Gln1304Pro)
c.3827A>C (p.Gln1276Pro)
c.2360A>C (p.Gln787Pro)
c.3545A>C (p.Gln1182Pro)
c.3131A>C (p.Gln1044Pro)
c.3737A>C (p.Gln1246Pro)
c.4091A>C (p.Gln1364Pro)
dbSNP gnomAD v3 gnomAD v4
2g.25742426T=CA1239490464ASXL2c.3908A= (p.Gln1303=)
c.3911A= (p.Gln1304=)
c.3827A= (p.Gln1276=)
c.2360A= (p.Gln787=)
c.3545A= (p.Gln1182=)
c.3131A= (p.Gln1044=)
c.3737A= (p.Gln1246=)
c.4091A= (p.Gln1364=)
2g.25742427G>ACA346075286ASXL2c.3907C>T (p.Gln1303Ter)
c.3910C>T (p.Gln1304Ter)
c.3826C>T (p.Gln1276Ter)
c.2359C>T (p.Gln787Ter)
c.3544C>T (p.Gln1182Ter)
c.3130C>T (p.Gln1044Ter)
c.3736C>T (p.Gln1246Ter)
c.4090C>T (p.Gln1364Ter)
2g.25742427G>CCA346075288ASXL2c.3907C>G (p.Gln1303Glu)
c.3910C>G (p.Gln1304Glu)
c.3826C>G (p.Gln1276Glu)
c.2359C>G (p.Gln787Glu)
c.3544C>G (p.Gln1182Glu)
c.3130C>G (p.Gln1044Glu)
c.3736C>G (p.Gln1246Glu)
c.4090C>G (p.Gln1364Glu)
2g.25742427G>TCA346075292ASXL2c.3907C>A (p.Gln1303Lys)
c.3910C>A (p.Gln1304Lys)
c.3826C>A (p.Gln1276Lys)
c.2359C>A (p.Gln787Lys)
c.3544C>A (p.Gln1182Lys)
c.3130C>A (p.Gln1044Lys)
c.3736C>A (p.Gln1246Lys)
c.4090C>A (p.Gln1364Lys)
gnomAD v4
2g.25742428delCA2658189300ASXL2c.3907del (p.Gln1303SerfsTer20)
c.3910del (p.Gln1304SerfsTer20)
c.3826del (p.Gln1276SerfsTer20)
c.2359del (p.Gln787SerfsTer20)
c.3544del (p.Gln1182SerfsTer20)
c.3130del (p.Gln1044SerfsTer20)
c.3736del (p.Gln1246SerfsTer20)
c.4090del (p.Gln1364SerfsTer20)
gnomAD v4
2g.25742433_25742436delCA2658189301ASXL2c.3904_3907del (p.His1302SerfsTer20)
c.3907_3910del (p.His1303SerfsTer20)
c.3823_3826del (p.His1275SerfsTer20)
c.2356_2359del (p.His786SerfsTer20)
c.3541_3544del (p.His1181SerfsTer20)
c.3127_3130del (p.His1043SerfsTer20)
c.3733_3736del (p.His1245SerfsTer20)
c.4087_4090del (p.His1363SerfsTer20)
gnomAD v4
2g.25742428G>ACA1557399ASXL2c.3906C>T (p.His1302=)
c.3909C>T (p.His1303=)
c.3825C>T (p.His1275=)
c.2358C>T (p.His786=)
c.3543C>T (p.His1181=)
c.3129C>T (p.His1043=)
c.3735C>T (p.His1245=)
c.4089C>T (p.His1363=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742428G>CCA346075297ASXL2c.3906C>G (p.His1302Gln)
c.3909C>G (p.His1303Gln)
c.3825C>G (p.His1275Gln)
c.2358C>G (p.His786Gln)
c.3543C>G (p.His1181Gln)
c.3129C>G (p.His1043Gln)
c.3735C>G (p.His1245Gln)
c.4089C>G (p.His1363Gln)
2g.25742428G=CA1239490465ASXL2c.3906C= (p.His1302=)
c.3909C= (p.His1303=)
c.3825C= (p.His1275=)
c.2358C= (p.His786=)
c.3543C= (p.His1181=)
c.3129C= (p.His1043=)
c.3735C= (p.His1245=)
c.4089C= (p.His1363=)
2g.25742428G>TCA346075300ASXL2c.3906C>A (p.His1302Gln)
c.3909C>A (p.His1303Gln)
c.3825C>A (p.His1275Gln)
c.2358C>A (p.His786Gln)
c.3543C>A (p.His1181Gln)
c.3129C>A (p.His1043Gln)
c.3735C>A (p.His1245Gln)
c.4089C>A (p.His1363Gln)
gnomAD v4
2g.25742429T>ACA346075303ASXL2c.3905A>T (p.His1302Leu)
c.3908A>T (p.His1303Leu)
c.3824A>T (p.His1275Leu)
c.2357A>T (p.His786Leu)
c.3542A>T (p.His1181Leu)
c.3128A>T (p.His1043Leu)
c.3734A>T (p.His1245Leu)
c.4088A>T (p.His1363Leu)
2g.25742429T>CCA346075304ASXL2c.3905A>G (p.His1302Arg)
c.3908A>G (p.His1303Arg)
c.3824A>G (p.His1275Arg)
c.2357A>G (p.His786Arg)
c.3542A>G (p.His1181Arg)
c.3128A>G (p.His1043Arg)
c.3734A>G (p.His1245Arg)
c.4088A>G (p.His1363Arg)
gnomAD v4
2g.25742429T>GCA346075306ASXL2c.3905A>C (p.His1302Pro)
c.3908A>C (p.His1303Pro)
c.3824A>C (p.His1275Pro)
c.2357A>C (p.His786Pro)
c.3542A>C (p.His1181Pro)
c.3128A>C (p.His1043Pro)
c.3734A>C (p.His1245Pro)
c.4088A>C (p.His1363Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742429T=CA1239490466ASXL2c.3905A= (p.His1302=)
c.3908A= (p.His1303=)
c.3824A= (p.His1275=)
c.2357A= (p.His786=)
c.3542A= (p.His1181=)
c.3128A= (p.His1043=)
c.3734A= (p.His1245=)
c.4088A= (p.His1363=)
2g.25742430G>ACA346075311ASXL2c.3904C>T (p.His1302Tyr)
c.3907C>T (p.His1303Tyr)
c.3823C>T (p.His1275Tyr)
c.2356C>T (p.His786Tyr)
c.3541C>T (p.His1181Tyr)
c.3127C>T (p.His1043Tyr)
c.3733C>T (p.His1245Tyr)
c.4087C>T (p.His1363Tyr)
gnomAD v4
2g.25742430G>CCA346075313ASXL2c.3904C>G (p.His1302Asp)
c.3907C>G (p.His1303Asp)
c.3823C>G (p.His1275Asp)
c.2356C>G (p.His786Asp)
c.3541C>G (p.His1181Asp)
c.3127C>G (p.His1043Asp)
c.3733C>G (p.His1245Asp)
c.4087C>G (p.His1363Asp)
2g.25742430G>TCA346075315ASXL2c.3904C>A (p.His1302Asn)
c.3907C>A (p.His1303Asn)
c.3823C>A (p.His1275Asn)
c.2356C>A (p.His786Asn)
c.3541C>A (p.His1181Asn)
c.3127C>A (p.His1043Asn)
c.3733C>A (p.His1245Asn)
c.4087C>A (p.His1363Asn)
gnomAD v4
2g.25742432delCA2658189302ASXL2c.3904del (p.His1302ThrfsTer21)
c.3907del (p.His1303ThrfsTer21)
c.3823del (p.His1275ThrfsTer21)
c.2356del (p.His786ThrfsTer21)
c.3541del (p.His1181ThrfsTer21)
c.3127del (p.His1043ThrfsTer21)
c.3733del (p.His1245ThrfsTer21)
c.4087del (p.His1363ThrfsTer21)
gnomAD v4
2g.25742431G>ACA425354889ASXL2c.3903C>T (p.Thr1301=)
c.3906C>T (p.Thr1302=)
c.3822C>T (p.Thr1274=)
c.2355C>T (p.Thr785=)
c.3540C>T (p.Thr1180=)
c.3126C>T (p.Thr1042=)
c.3732C>T (p.Thr1244=)
c.4086C>T (p.Thr1362=)
gnomAD v4
2g.25742431G>CCA425354890ASXL2c.3903C>G (p.Thr1301=)
c.3906C>G (p.Thr1302=)
c.3822C>G (p.Thr1274=)
c.2355C>G (p.Thr785=)
c.3540C>G (p.Thr1180=)
c.3126C>G (p.Thr1042=)
c.3732C>G (p.Thr1244=)
c.4086C>G (p.Thr1362=)
gnomAD v4
2g.25742431G=CA1239490467ASXL2c.3903C= (p.Thr1301=)
c.3906C= (p.Thr1302=)
c.3822C= (p.Thr1274=)
c.2355C= (p.Thr785=)
c.3540C= (p.Thr1180=)
c.3126C= (p.Thr1042=)
c.3732C= (p.Thr1244=)
c.4086C= (p.Thr1362=)
2g.25742431G>TCA425354891ASXL2c.3903C>A (p.Thr1301=)
c.3906C>A (p.Thr1302=)
c.3822C>A (p.Thr1274=)
c.2355C>A (p.Thr785=)
c.3540C>A (p.Thr1180=)
c.3126C>A (p.Thr1042=)
c.3732C>A (p.Thr1244=)
c.4086C>A (p.Thr1362=)
dbSNP gnomAD v4
2g.25742432G>ACA346075322ASXL2c.3902C>T (p.Thr1301Ile)
c.3905C>T (p.Thr1302Ile)
c.3821C>T (p.Thr1274Ile)
c.2354C>T (p.Thr785Ile)
c.3539C>T (p.Thr1180Ile)
c.3125C>T (p.Thr1042Ile)
c.3731C>T (p.Thr1244Ile)
c.4085C>T (p.Thr1362Ile)
2g.25742432G>CCA346075324ASXL2c.3902C>G (p.Thr1301Ser)
c.3905C>G (p.Thr1302Ser)
c.3821C>G (p.Thr1274Ser)
c.2354C>G (p.Thr785Ser)
c.3539C>G (p.Thr1180Ser)
c.3125C>G (p.Thr1042Ser)
c.3731C>G (p.Thr1244Ser)
c.4085C>G (p.Thr1362Ser)
2g.25742432G>TCA346075318ASXL2c.3902C>A (p.Thr1301Asn)
c.3905C>A (p.Thr1302Asn)
c.3821C>A (p.Thr1274Asn)
c.2354C>A (p.Thr785Asn)
c.3539C>A (p.Thr1180Asn)
c.3125C>A (p.Thr1042Asn)
c.3731C>A (p.Thr1244Asn)
c.4085C>A (p.Thr1362Asn)
gnomAD v4
2g.25742433T>ACA346075326ASXL2c.3901A>T (p.Thr1301Ser)
c.3904A>T (p.Thr1302Ser)
c.3820A>T (p.Thr1274Ser)
c.2353A>T (p.Thr785Ser)
c.3538A>T (p.Thr1180Ser)
c.3124A>T (p.Thr1042Ser)
c.3730A>T (p.Thr1244Ser)
c.4084A>T (p.Thr1362Ser)
2g.25742433T>CCA346075329ASXL2c.3901A>G (p.Thr1301Ala)
c.3904A>G (p.Thr1302Ala)
c.3820A>G (p.Thr1274Ala)
c.2353A>G (p.Thr785Ala)
c.3538A>G (p.Thr1180Ala)
c.3124A>G (p.Thr1042Ala)
c.3730A>G (p.Thr1244Ala)
c.4084A>G (p.Thr1362Ala)
ClinVar gnomAD v4
2g.25742433T>GCA1557400ASXL2c.3901A>C (p.Thr1301Pro)
c.3904A>C (p.Thr1302Pro)
c.3820A>C (p.Thr1274Pro)
c.2353A>C (p.Thr785Pro)
c.3538A>C (p.Thr1180Pro)
c.3124A>C (p.Thr1042Pro)
c.3730A>C (p.Thr1244Pro)
c.4084A>C (p.Thr1362Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742433T=CA1239490468ASXL2c.3901A= (p.Thr1301=)
c.3904A= (p.Thr1302=)
c.3820A= (p.Thr1274=)
c.2353A= (p.Thr785=)
c.3538A= (p.Thr1180=)
c.3124A= (p.Thr1042=)
c.3730A= (p.Thr1244=)
c.4084A= (p.Thr1362=)
2g.25742434G>ACA425354902ASXL2c.3900C>T (p.Pro1300=)
c.3903C>T (p.Pro1301=)
c.3819C>T (p.Pro1273=)
c.2352C>T (p.Pro784=)
c.3537C>T (p.Pro1179=)
c.3123C>T (p.Pro1041=)
c.3729C>T (p.Pro1243=)
c.4083C>T (p.Pro1361=)
dbSNP gnomAD v2 gnomAD v4
2g.25742434G>CCA425354906ASXL2c.3900C>G (p.Pro1300=)
c.3903C>G (p.Pro1301=)
c.3819C>G (p.Pro1273=)
c.2352C>G (p.Pro784=)
c.3537C>G (p.Pro1179=)
c.3123C>G (p.Pro1041=)
c.3729C>G (p.Pro1243=)
c.4083C>G (p.Pro1361=)
2g.25742434G=CA1239490469ASXL2c.3900C= (p.Pro1300=)
c.3903C= (p.Pro1301=)
c.3819C= (p.Pro1273=)
c.2352C= (p.Pro784=)
c.3537C= (p.Pro1179=)
c.3123C= (p.Pro1041=)
c.3729C= (p.Pro1243=)
c.4083C= (p.Pro1361=)
2g.25742434G>TCA425354907ASXL2c.3900C>A (p.Pro1300=)
c.3903C>A (p.Pro1301=)
c.3819C>A (p.Pro1273=)
c.2352C>A (p.Pro784=)
c.3537C>A (p.Pro1179=)
c.3123C>A (p.Pro1041=)
c.3729C>A (p.Pro1243=)
c.4083C>A (p.Pro1361=)
2g.25742435G>ACA43734282ASXL2c.3899C>T (p.Pro1300Leu)
c.3902C>T (p.Pro1301Leu)
c.3818C>T (p.Pro1273Leu)
c.2351C>T (p.Pro784Leu)
c.3536C>T (p.Pro1179Leu)
c.3122C>T (p.Pro1041Leu)
c.3728C>T (p.Pro1243Leu)
c.4082C>T (p.Pro1361Leu)
dbSNP gnomAD v3 gnomAD v4
2g.25742435G>CCA346075335ASXL2c.3899C>G (p.Pro1300Arg)
c.3902C>G (p.Pro1301Arg)
c.3818C>G (p.Pro1273Arg)
c.2351C>G (p.Pro784Arg)
c.3536C>G (p.Pro1179Arg)
c.3122C>G (p.Pro1041Arg)
c.3728C>G (p.Pro1243Arg)
c.4082C>G (p.Pro1361Arg)
2g.25742435G=CA1239490470ASXL2c.3899C= (p.Pro1300=)
c.3902C= (p.Pro1301=)
c.3818C= (p.Pro1273=)
c.2351C= (p.Pro784=)
c.3536C= (p.Pro1179=)
c.3122C= (p.Pro1041=)
c.3728C= (p.Pro1243=)
c.4082C= (p.Pro1361=)
2g.25742435G>TCA346075338ASXL2c.3899C>A (p.Pro1300His)
c.3902C>A (p.Pro1301His)
c.3818C>A (p.Pro1273His)
c.2351C>A (p.Pro784His)
c.3536C>A (p.Pro1179His)
c.3122C>A (p.Pro1041His)
c.3728C>A (p.Pro1243His)
c.4082C>A (p.Pro1361His)
gnomAD v4
2g.25742436G>ACA43734285ASXL2c.3898C>T (p.Pro1300Ser)
c.3901C>T (p.Pro1301Ser)
c.3817C>T (p.Pro1273Ser)
c.2350C>T (p.Pro784Ser)
c.3535C>T (p.Pro1179Ser)
c.3121C>T (p.Pro1041Ser)
c.3727C>T (p.Pro1243Ser)
c.4081C>T (p.Pro1361Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742436G>CCA346075341ASXL2c.3898C>G (p.Pro1300Ala)
c.3901C>G (p.Pro1301Ala)
c.3817C>G (p.Pro1273Ala)
c.2350C>G (p.Pro784Ala)
c.3535C>G (p.Pro1179Ala)
c.3121C>G (p.Pro1041Ala)
c.3727C>G (p.Pro1243Ala)
c.4081C>G (p.Pro1361Ala)
gnomAD v4
2g.25742436G=CA1239490471ASXL2c.3898C= (p.Pro1300=)
c.3901C= (p.Pro1301=)
c.3817C= (p.Pro1273=)
c.2350C= (p.Pro784=)
c.3535C= (p.Pro1179=)
c.3121C= (p.Pro1041=)
c.3727C= (p.Pro1243=)
c.4081C= (p.Pro1361=)
2g.25742436G>TCA1557401ASXL2c.3898C>A (p.Pro1300Thr)
c.3901C>A (p.Pro1301Thr)
c.3817C>A (p.Pro1273Thr)
c.2350C>A (p.Pro784Thr)
c.3535C>A (p.Pro1179Thr)
c.3121C>A (p.Pro1041Thr)
c.3727C>A (p.Pro1243Thr)
c.4081C>A (p.Pro1361Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742437G>ACA1557402ASXL2c.3897C>T (p.Ser1299=)
c.3900C>T (p.Ser1300=)
c.3816C>T (p.Ser1272=)
c.2349C>T (p.Ser783=)
c.3534C>T (p.Ser1178=)
c.3120C>T (p.Ser1040=)
c.3726C>T (p.Ser1242=)
c.4080C>T (p.Ser1360=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742437G>CCA346075356ASXL2c.3897C>G (p.Ser1299Arg)
c.3900C>G (p.Ser1300Arg)
c.3816C>G (p.Ser1272Arg)
c.2349C>G (p.Ser783Arg)
c.3534C>G (p.Ser1178Arg)
c.3120C>G (p.Ser1040Arg)
c.3726C>G (p.Ser1242Arg)
c.4080C>G (p.Ser1360Arg)
gnomAD v4
2g.25742437G=CA1239490472ASXL2c.3897C= (p.Ser1299=)
c.3900C= (p.Ser1300=)
c.3816C= (p.Ser1272=)
c.2349C= (p.Ser783=)
c.3534C= (p.Ser1178=)
c.3120C= (p.Ser1040=)
c.3726C= (p.Ser1242=)
c.4080C= (p.Ser1360=)
2g.25742437G>TCA346075358ASXL2c.3897C>A (p.Ser1299Arg)
c.3900C>A (p.Ser1300Arg)
c.3816C>A (p.Ser1272Arg)
c.2349C>A (p.Ser783Arg)
c.3534C>A (p.Ser1178Arg)
c.3120C>A (p.Ser1040Arg)
c.3726C>A (p.Ser1242Arg)
c.4080C>A (p.Ser1360Arg)
gnomAD v4
2g.25742437_25742438insGGCCCA2576695355ASXL2c.3896_3897insGGCC (p.Ser1299ArgfsTer30)
c.3899_3900insGGCC (p.Ser1300ArgfsTer30)
c.3815_3816insGGCC (p.Ser1272ArgfsTer30)
c.2348_2349insGGCC (p.Ser783ArgfsTer30)
c.3533_3534insGGCC (p.Ser1178ArgfsTer30)
c.3119_3120insGGCC (p.Ser1040ArgfsTer30)
c.3725_3726insGGCC (p.Ser1242ArgfsTer30)
c.4079_4080insGGCC (p.Ser1360ArgfsTer30)
2g.25742437_25742438insGGGCCA2576695354ASXL2c.3896_3897insGCCC (p.Ser1299ArgfsTer30)
c.3899_3900insGCCC (p.Ser1300ArgfsTer30)
c.3815_3816insGCCC (p.Ser1272ArgfsTer30)
c.2348_2349insGCCC (p.Ser783ArgfsTer30)
c.3533_3534insGCCC (p.Ser1178ArgfsTer30)
c.3119_3120insGCCC (p.Ser1040ArgfsTer30)
c.3725_3726insGCCC (p.Ser1242ArgfsTer30)
c.4079_4080insGCCC (p.Ser1360ArgfsTer30)
2g.25742438C>ACA346075362ASXL2c.3896G>T (p.Ser1299Ile)
c.3899G>T (p.Ser1300Ile)
c.3815G>T (p.Ser1272Ile)
c.2348G>T (p.Ser783Ile)
c.3533G>T (p.Ser1178Ile)
c.3119G>T (p.Ser1040Ile)
c.3725G>T (p.Ser1242Ile)
c.4079G>T (p.Ser1360Ile)
2g.25742438C>GCA346075364ASXL2c.3896G>C (p.Ser1299Thr)
c.3899G>C (p.Ser1300Thr)
c.3815G>C (p.Ser1272Thr)
c.2348G>C (p.Ser783Thr)
c.3533G>C (p.Ser1178Thr)
c.3119G>C (p.Ser1040Thr)
c.3725G>C (p.Ser1242Thr)
c.4079G>C (p.Ser1360Thr)
2g.25742438C>TCA346075367ASXL2c.3896G>A (p.Ser1299Asn)
c.3899G>A (p.Ser1300Asn)
c.3815G>A (p.Ser1272Asn)
c.2348G>A (p.Ser783Asn)
c.3533G>A (p.Ser1178Asn)
c.3119G>A (p.Ser1040Asn)
c.3725G>A (p.Ser1242Asn)
c.4079G>A (p.Ser1360Asn)
COSMIC COSMIC
2g.25742438_25742439insCCCA2576695356ASXL2c.3896_3897insGG (p.Ser1299ArgfsTer25)
c.3899_3900insGG (p.Ser1300ArgfsTer25)
c.3815_3816insGG (p.Ser1272ArgfsTer25)
c.2348_2349insGG (p.Ser783ArgfsTer25)
c.3533_3534insGG (p.Ser1178ArgfsTer25)
c.3119_3120insGG (p.Ser1040ArgfsTer25)
c.3725_3726insGG (p.Ser1242ArgfsTer25)
c.4079_4080insGG (p.Ser1360ArgfsTer25)
2g.25742438dupCA2576695357ASXL2c.3896dup (p.Ser1299ArgfsTer29)
c.3899dup (p.Ser1300ArgfsTer29)
c.3815dup (p.Ser1272ArgfsTer29)
c.2348dup (p.Ser783ArgfsTer29)
c.3533dup (p.Ser1178ArgfsTer29)
c.3119dup (p.Ser1040ArgfsTer29)
c.3725dup (p.Ser1242ArgfsTer29)
c.4079dup (p.Ser1360ArgfsTer29)
2g.25742439T>ACA346075371ASXL2c.3895A>T (p.Ser1299Cys)
c.3898A>T (p.Ser1300Cys)
c.3814A>T (p.Ser1272Cys)
c.2347A>T (p.Ser783Cys)
c.3532A>T (p.Ser1178Cys)
c.3118A>T (p.Ser1040Cys)
c.3724A>T (p.Ser1242Cys)
c.4078A>T (p.Ser1360Cys)
2g.25742439T>CCA346075377ASXL2c.3895A>G (p.Ser1299Gly)
c.3898A>G (p.Ser1300Gly)
c.3814A>G (p.Ser1272Gly)
c.2347A>G (p.Ser783Gly)
c.3532A>G (p.Ser1178Gly)
c.3118A>G (p.Ser1040Gly)
c.3724A>G (p.Ser1242Gly)
c.4078A>G (p.Ser1360Gly)
dbSNP gnomAD v2 gnomAD v4
2g.25742439T>GCA346075373ASXL2c.3895A>C (p.Ser1299Arg)
c.3898A>C (p.Ser1300Arg)
c.3814A>C (p.Ser1272Arg)
c.2347A>C (p.Ser783Arg)
c.3532A>C (p.Ser1178Arg)
c.3118A>C (p.Ser1040Arg)
c.3724A>C (p.Ser1242Arg)
c.4078A>C (p.Ser1360Arg)
2g.25742439T=CA1239490473ASXL2c.3895A= (p.Ser1299=)
c.3898A= (p.Ser1300=)
c.3814A= (p.Ser1272=)
c.2347A= (p.Ser783=)
c.3532A= (p.Ser1178=)
c.3118A= (p.Ser1040=)
c.3724A= (p.Ser1242=)
c.4078A= (p.Ser1360=)
2g.25742439_25742440insAGATCGGAAGAGCCA2533243214ASXL2c.3894_3895insGCTCTTCCGATCT (p.Ser1299AlafsTer5)
c.3897_3898insGCTCTTCCGATCT (p.Ser1300AlafsTer5)
c.3813_3814insGCTCTTCCGATCT (p.Ser1272AlafsTer5)
c.2346_2347insGCTCTTCCGATCT (p.Ser783AlafsTer5)
c.3531_3532insGCTCTTCCGATCT (p.Ser1178AlafsTer5)
c.3117_3118insGCTCTTCCGATCT (p.Ser1040AlafsTer5)
c.3723_3724insGCTCTTCCGATCT (p.Ser1242AlafsTer5)
c.4077_4078insGCTCTTCCGATCT (p.Ser1360AlafsTer5)
2g.25742440G>ACA425354920ASXL2c.3894C>T (p.Asp1298=)
c.3897C>T (p.Asp1299=)
c.3813C>T (p.Asp1271=)
c.2346C>T (p.Asp782=)
c.3531C>T (p.Asp1177=)
c.3117C>T (p.Asp1039=)
c.3723C>T (p.Asp1241=)
c.4077C>T (p.Asp1359=)
gnomAD v4
2g.25742440G>CCA346075379ASXL2c.3894C>G (p.Asp1298Glu)
c.3897C>G (p.Asp1299Glu)
c.3813C>G (p.Asp1271Glu)
c.2346C>G (p.Asp782Glu)
c.3531C>G (p.Asp1177Glu)
c.3117C>G (p.Asp1039Glu)
c.3723C>G (p.Asp1241Glu)
c.4077C>G (p.Asp1359Glu)
2g.25742440G>TCA346075381ASXL2c.3894C>A (p.Asp1298Glu)
c.3897C>A (p.Asp1299Glu)
c.3813C>A (p.Asp1271Glu)
c.2346C>A (p.Asp782Glu)
c.3531C>A (p.Asp1177Glu)
c.3117C>A (p.Asp1039Glu)
c.3723C>A (p.Asp1241Glu)
c.4077C>A (p.Asp1359Glu)
2g.25742441T>ACA346075383ASXL2c.3893A>T (p.Asp1298Val)
c.3896A>T (p.Asp1299Val)
c.3812A>T (p.Asp1271Val)
c.2345A>T (p.Asp782Val)
c.3530A>T (p.Asp1177Val)
c.3116A>T (p.Asp1039Val)
c.3722A>T (p.Asp1241Val)
c.4076A>T (p.Asp1359Val)
2g.25742441T>CCA1557403ASXL2c.3893A>G (p.Asp1298Gly)
c.3896A>G (p.Asp1299Gly)
c.3812A>G (p.Asp1271Gly)
c.2345A>G (p.Asp782Gly)
c.3530A>G (p.Asp1177Gly)
c.3116A>G (p.Asp1039Gly)
c.3722A>G (p.Asp1241Gly)
c.4076A>G (p.Asp1359Gly)
dbSNP ExAC gnomAD v3 gnomAD v4
2g.25742441T>GCA346075388ASXL2c.3893A>C (p.Asp1298Ala)
c.3896A>C (p.Asp1299Ala)
c.3812A>C (p.Asp1271Ala)
c.2345A>C (p.Asp782Ala)
c.3530A>C (p.Asp1177Ala)
c.3116A>C (p.Asp1039Ala)
c.3722A>C (p.Asp1241Ala)
c.4076A>C (p.Asp1359Ala)
2g.25742441T=CA1239490474ASXL2c.3893A= (p.Asp1298=)
c.3896A= (p.Asp1299=)
c.3812A= (p.Asp1271=)
c.2345A= (p.Asp782=)
c.3530A= (p.Asp1177=)
c.3116A= (p.Asp1039=)
c.3722A= (p.Asp1241=)
c.4076A= (p.Asp1359=)
2g.25742442C>ACA346075393ASXL2c.3892G>T (p.Asp1298Tyr)
c.3895G>T (p.Asp1299Tyr)
c.3811G>T (p.Asp1271Tyr)
c.2344G>T (p.Asp782Tyr)
c.3529G>T (p.Asp1177Tyr)
c.3115G>T (p.Asp1039Tyr)
c.3721G>T (p.Asp1241Tyr)
c.4075G>T (p.Asp1359Tyr)
2g.25742442C>GCA346075395ASXL2c.3892G>C (p.Asp1298His)
c.3895G>C (p.Asp1299His)
c.3811G>C (p.Asp1271His)
c.2344G>C (p.Asp782His)
c.3529G>C (p.Asp1177His)
c.3115G>C (p.Asp1039His)
c.3721G>C (p.Asp1241His)
c.4075G>C (p.Asp1359His)
2g.25742442C>TCA346075396ASXL2c.3892G>A (p.Asp1298Asn)
c.3895G>A (p.Asp1299Asn)
c.3811G>A (p.Asp1271Asn)
c.2344G>A (p.Asp782Asn)
c.3529G>A (p.Asp1177Asn)
c.3115G>A (p.Asp1039Asn)
c.3721G>A (p.Asp1241Asn)
c.4075G>A (p.Asp1359Asn)
gnomAD v4
2g.25742443T>ACA425354928ASXL2c.3891A>T (p.Ala1297=)
c.3894A>T (p.Ala1298=)
c.3810A>T (p.Ala1270=)
c.2343A>T (p.Ala781=)
c.3528A>T (p.Ala1176=)
c.3114A>T (p.Ala1038=)
c.3720A>T (p.Ala1240=)
c.4074A>T (p.Ala1358=)
2g.25742443T>CCA1557404ASXL2c.3891A>G (p.Ala1297=)
c.3894A>G (p.Ala1298=)
c.3810A>G (p.Ala1270=)
c.2343A>G (p.Ala781=)
c.3528A>G (p.Ala1176=)
c.3114A>G (p.Ala1038=)
c.3720A>G (p.Ala1240=)
c.4074A>G (p.Ala1358=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742443T>GCA425354929ASXL2c.3891A>C (p.Ala1297=)
c.3894A>C (p.Ala1298=)
c.3810A>C (p.Ala1270=)
c.2343A>C (p.Ala781=)
c.3528A>C (p.Ala1176=)
c.3114A>C (p.Ala1038=)
c.3720A>C (p.Ala1240=)
c.4074A>C (p.Ala1358=)
2g.25742443T=CA1239490475ASXL2c.3891A= (p.Ala1297=)
c.3894A= (p.Ala1298=)
c.3810A= (p.Ala1270=)
c.2343A= (p.Ala781=)
c.3528A= (p.Ala1176=)
c.3114A= (p.Ala1038=)
c.3720A= (p.Ala1240=)
c.4074A= (p.Ala1358=)
2g.25742444G>ACA346075398ASXL2c.3890C>T (p.Ala1297Val)
c.3893C>T (p.Ala1298Val)
c.3809C>T (p.Ala1270Val)
c.2342C>T (p.Ala781Val)
c.3527C>T (p.Ala1176Val)
c.3113C>T (p.Ala1038Val)
c.3719C>T (p.Ala1240Val)
c.4073C>T (p.Ala1358Val)
gnomAD v4
2g.25742444G>CCA346075400ASXL2c.3890C>G (p.Ala1297Gly)
c.3893C>G (p.Ala1298Gly)
c.3809C>G (p.Ala1270Gly)
c.2342C>G (p.Ala781Gly)
c.3527C>G (p.Ala1176Gly)
c.3113C>G (p.Ala1038Gly)
c.3719C>G (p.Ala1240Gly)
c.4073C>G (p.Ala1358Gly)
2g.25742444G>TCA346075397ASXL2c.3890C>A (p.Ala1297Glu)
c.3893C>A (p.Ala1298Glu)
c.3809C>A (p.Ala1270Glu)
c.2342C>A (p.Ala781Glu)
c.3527C>A (p.Ala1176Glu)
c.3113C>A (p.Ala1038Glu)
c.3719C>A (p.Ala1240Glu)
c.4073C>A (p.Ala1358Glu)
gnomAD v4
2g.25742445C>ACA346075402ASXL2c.3889G>T (p.Ala1297Ser)
c.3892G>T (p.Ala1298Ser)
c.3808G>T (p.Ala1270Ser)
c.2341G>T (p.Ala781Ser)
c.3526G>T (p.Ala1176Ser)
c.3112G>T (p.Ala1038Ser)
c.3718G>T (p.Ala1240Ser)
c.4072G>T (p.Ala1358Ser)
2g.25742445C>GCA346075405ASXL2c.3889G>C (p.Ala1297Pro)
c.3892G>C (p.Ala1298Pro)
c.3808G>C (p.Ala1270Pro)
c.2341G>C (p.Ala781Pro)
c.3526G>C (p.Ala1176Pro)
c.3112G>C (p.Ala1038Pro)
c.3718G>C (p.Ala1240Pro)
c.4072G>C (p.Ala1358Pro)
ClinVar
2g.25742445C>TCA346075407ASXL2c.3889G>A (p.Ala1297Thr)
c.3892G>A (p.Ala1298Thr)
c.3808G>A (p.Ala1270Thr)
c.2341G>A (p.Ala781Thr)
c.3526G>A (p.Ala1176Thr)
c.3112G>A (p.Ala1038Thr)
c.3718G>A (p.Ala1240Thr)
c.4072G>A (p.Ala1358Thr)
gnomAD v4
2g.25742446A=CA1239490476ASXL2c.3888T= (p.Pro1296=)
c.3891T= (p.Pro1297=)
c.3807T= (p.Pro1269=)
c.2340T= (p.Pro780=)
c.3525T= (p.Pro1175=)
c.3111T= (p.Pro1037=)
c.3717T= (p.Pro1239=)
c.4071T= (p.Pro1357=)
2g.25742446A>CCA1557405ASXL2c.3888T>G (p.Pro1296=)
c.3891T>G (p.Pro1297=)
c.3807T>G (p.Pro1269=)
c.2340T>G (p.Pro780=)
c.3525T>G (p.Pro1175=)
c.3111T>G (p.Pro1037=)
c.3717T>G (p.Pro1239=)
c.4071T>G (p.Pro1357=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742446A>GCA425354940ASXL2c.3888T>C (p.Pro1296=)
c.3891T>C (p.Pro1297=)
c.3807T>C (p.Pro1269=)
c.2340T>C (p.Pro780=)
c.3525T>C (p.Pro1175=)
c.3111T>C (p.Pro1037=)
c.3717T>C (p.Pro1239=)
c.4071T>C (p.Pro1357=)
2g.25742446A>TCA425354941ASXL2c.3888T>A (p.Pro1296=)
c.3891T>A (p.Pro1297=)
c.3807T>A (p.Pro1269=)
c.2340T>A (p.Pro780=)
c.3525T>A (p.Pro1175=)
c.3111T>A (p.Pro1037=)
c.3717T>A (p.Pro1239=)
c.4071T>A (p.Pro1357=)
2g.25742447G>ACA346075414ASXL2c.3887C>T (p.Pro1296Leu)
c.3890C>T (p.Pro1297Leu)
c.3806C>T (p.Pro1269Leu)
c.2339C>T (p.Pro780Leu)
c.3524C>T (p.Pro1175Leu)
c.3110C>T (p.Pro1037Leu)
c.3716C>T (p.Pro1239Leu)
c.4070C>T (p.Pro1357Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742447G>CCA346075416ASXL2c.3887C>G (p.Pro1296Arg)
c.3890C>G (p.Pro1297Arg)
c.3806C>G (p.Pro1269Arg)
c.2339C>G (p.Pro780Arg)
c.3524C>G (p.Pro1175Arg)
c.3110C>G (p.Pro1037Arg)
c.3716C>G (p.Pro1239Arg)
c.4070C>G (p.Pro1357Arg)
2g.25742447G=CA1239490477ASXL2c.3887C= (p.Pro1296=)
c.3890C= (p.Pro1297=)
c.3806C= (p.Pro1269=)
c.2339C= (p.Pro780=)
c.3524C= (p.Pro1175=)
c.3110C= (p.Pro1037=)
c.3716C= (p.Pro1239=)
c.4070C= (p.Pro1357=)
2g.25742447G>TCA346075418ASXL2c.3887C>A (p.Pro1296His)
c.3890C>A (p.Pro1297His)
c.3806C>A (p.Pro1269His)
c.2339C>A (p.Pro780His)
c.3524C>A (p.Pro1175His)
c.3110C>A (p.Pro1037His)
c.3716C>A (p.Pro1239His)
c.4070C>A (p.Pro1357His)
ClinVar
2g.25742448G>ACA346075424ASXL2c.3886C>T (p.Pro1296Ser)
c.3889C>T (p.Pro1297Ser)
c.3805C>T (p.Pro1269Ser)
c.2338C>T (p.Pro780Ser)
c.3523C>T (p.Pro1175Ser)
c.3109C>T (p.Pro1037Ser)
c.3715C>T (p.Pro1239Ser)
c.4069C>T (p.Pro1357Ser)
dbSNP gnomAD v3 gnomAD v4
2g.25742448G>CCA346075425ASXL2c.3886C>G (p.Pro1296Ala)
c.3889C>G (p.Pro1297Ala)
c.3805C>G (p.Pro1269Ala)
c.2338C>G (p.Pro780Ala)
c.3523C>G (p.Pro1175Ala)
c.3109C>G (p.Pro1037Ala)
c.3715C>G (p.Pro1239Ala)
c.4069C>G (p.Pro1357Ala)
2g.25742448G=CA1239490478ASXL2c.3886C= (p.Pro1296=)
c.3889C= (p.Pro1297=)
c.3805C= (p.Pro1269=)
c.2338C= (p.Pro780=)
c.3523C= (p.Pro1175=)
c.3109C= (p.Pro1037=)
c.3715C= (p.Pro1239=)
c.4069C= (p.Pro1357=)
2g.25742448G>TCA346075427ASXL2c.3886C>A (p.Pro1296Thr)
c.3889C>A (p.Pro1297Thr)
c.3805C>A (p.Pro1269Thr)
c.2338C>A (p.Pro780Thr)
c.3523C>A (p.Pro1175Thr)
c.3109C>A (p.Pro1037Thr)
c.3715C>A (p.Pro1239Thr)
c.4069C>A (p.Pro1357Thr)
2g.25742449C>ACA425354944ASXL2c.3885G>T (p.Leu1295=)
c.3888G>T (p.Leu1296=)
c.3804G>T (p.Leu1268=)
c.2337G>T (p.Leu779=)
c.3522G>T (p.Leu1174=)
c.3108G>T (p.Leu1036=)
c.3714G>T (p.Leu1238=)
c.4068G>T (p.Leu1356=)
2g.25742449C>GCA425354945ASXL2c.3885G>C (p.Leu1295=)
c.3888G>C (p.Leu1296=)
c.3804G>C (p.Leu1268=)
c.2337G>C (p.Leu779=)
c.3522G>C (p.Leu1174=)
c.3108G>C (p.Leu1036=)
c.3714G>C (p.Leu1238=)
c.4068G>C (p.Leu1356=)
2g.25742449C>TCA425354946ASXL2c.3885G>A (p.Leu1295=)
c.3888G>A (p.Leu1296=)
c.3804G>A (p.Leu1268=)
c.2337G>A (p.Leu779=)
c.3522G>A (p.Leu1174=)
c.3108G>A (p.Leu1036=)
c.3714G>A (p.Leu1238=)
c.4068G>A (p.Leu1356=)
2g.25742450A>CCA346075429ASXL2c.3884T>G (p.Leu1295Arg)
c.3887T>G (p.Leu1296Arg)
c.3803T>G (p.Leu1268Arg)
c.2336T>G (p.Leu779Arg)
c.3521T>G (p.Leu1174Arg)
c.3107T>G (p.Leu1036Arg)
c.3713T>G (p.Leu1238Arg)
c.4067T>G (p.Leu1356Arg)
2g.25742450A>GCA346075432ASXL2c.3884T>C (p.Leu1295Pro)
c.3887T>C (p.Leu1296Pro)
c.3803T>C (p.Leu1268Pro)
c.2336T>C (p.Leu779Pro)
c.3521T>C (p.Leu1174Pro)
c.3107T>C (p.Leu1036Pro)
c.3713T>C (p.Leu1238Pro)
c.4067T>C (p.Leu1356Pro)
2g.25742450A>TCA346075434ASXL2c.3884T>A (p.Leu1295Gln)
c.3887T>A (p.Leu1296Gln)
c.3803T>A (p.Leu1268Gln)
c.2336T>A (p.Leu779Gln)
c.3521T>A (p.Leu1174Gln)
c.3107T>A (p.Leu1036Gln)
c.3713T>A (p.Leu1238Gln)
c.4067T>A (p.Leu1356Gln)
gnomAD v4
2g.25742451G>ACA425354950ASXL2c.3883C>T (p.Leu1295=)
c.3886C>T (p.Leu1296=)
c.3802C>T (p.Leu1268=)
c.2335C>T (p.Leu779=)
c.3520C>T (p.Leu1174=)
c.3106C>T (p.Leu1036=)
c.3712C>T (p.Leu1238=)
c.4066C>T (p.Leu1356=)
dbSNP
2g.25742451G>CCA346075441ASXL2c.3883C>G (p.Leu1295Val)
c.3886C>G (p.Leu1296Val)
c.3802C>G (p.Leu1268Val)
c.2335C>G (p.Leu779Val)
c.3520C>G (p.Leu1174Val)
c.3106C>G (p.Leu1036Val)
c.3712C>G (p.Leu1238Val)
c.4066C>G (p.Leu1356Val)
2g.25742451G=CA1239490479ASXL2c.3883C= (p.Leu1295=)
c.3886C= (p.Leu1296=)
c.3802C= (p.Leu1268=)
c.2335C= (p.Leu779=)
c.3520C= (p.Leu1174=)
c.3106C= (p.Leu1036=)
c.3712C= (p.Leu1238=)
c.4066C= (p.Leu1356=)
2g.25742451G>TCA346075439ASXL2c.3883C>A (p.Leu1295Met)
c.3886C>A (p.Leu1296Met)
c.3802C>A (p.Leu1268Met)
c.2335C>A (p.Leu779Met)
c.3520C>A (p.Leu1174Met)
c.3106C>A (p.Leu1036Met)
c.3712C>A (p.Leu1238Met)
c.4066C>A (p.Leu1356Met)
2g.25742452A>CCA425354954ASXL2c.3882T>G (p.Pro1294=)
c.3885T>G (p.Pro1295=)
c.3801T>G (p.Pro1267=)
c.2334T>G (p.Pro778=)
c.3519T>G (p.Pro1173=)
c.3105T>G (p.Pro1035=)
c.3711T>G (p.Pro1237=)
c.4065T>G (p.Pro1355=)
2g.25742452A>GCA425354952ASXL2c.3882T>C (p.Pro1294=)
c.3885T>C (p.Pro1295=)
c.3801T>C (p.Pro1267=)
c.2334T>C (p.Pro778=)
c.3519T>C (p.Pro1173=)
c.3105T>C (p.Pro1035=)
c.3711T>C (p.Pro1237=)
c.4065T>C (p.Pro1355=)
2g.25742452A>TCA425354953ASXL2c.3882T>A (p.Pro1294=)
c.3885T>A (p.Pro1295=)
c.3801T>A (p.Pro1267=)
c.2334T>A (p.Pro778=)
c.3519T>A (p.Pro1173=)
c.3105T>A (p.Pro1035=)
c.3711T>A (p.Pro1237=)
c.4065T>A (p.Pro1355=)
2g.25742453G>ACA346075444ASXL2c.3881C>T (p.Pro1294Leu)
c.3884C>T (p.Pro1295Leu)
c.3800C>T (p.Pro1267Leu)
c.2333C>T (p.Pro778Leu)
c.3518C>T (p.Pro1173Leu)
c.3104C>T (p.Pro1035Leu)
c.3710C>T (p.Pro1237Leu)
c.4064C>T (p.Pro1355Leu)
gnomAD v4
2g.25742453G>CCA346075446ASXL2c.3881C>G (p.Pro1294Arg)
c.3884C>G (p.Pro1295Arg)
c.3800C>G (p.Pro1267Arg)
c.2333C>G (p.Pro778Arg)
c.3518C>G (p.Pro1173Arg)
c.3104C>G (p.Pro1035Arg)
c.3710C>G (p.Pro1237Arg)
c.4064C>G (p.Pro1355Arg)
2g.25742453G>TCA346075450ASXL2c.3881C>A (p.Pro1294His)
c.3884C>A (p.Pro1295His)
c.3800C>A (p.Pro1267His)
c.2333C>A (p.Pro778His)
c.3518C>A (p.Pro1173His)
c.3104C>A (p.Pro1035His)
c.3710C>A (p.Pro1237His)
c.4064C>A (p.Pro1355His)
2g.25742454G>ACA346075454ASXL2c.3880C>T (p.Pro1294Ser)
c.3883C>T (p.Pro1295Ser)
c.3799C>T (p.Pro1267Ser)
c.2332C>T (p.Pro778Ser)
c.3517C>T (p.Pro1173Ser)
c.3103C>T (p.Pro1035Ser)
c.3709C>T (p.Pro1237Ser)
c.4063C>T (p.Pro1355Ser)
gnomAD v4
2g.25742454G>CCA346075456ASXL2c.3880C>G (p.Pro1294Ala)
c.3883C>G (p.Pro1295Ala)
c.3799C>G (p.Pro1267Ala)
c.2332C>G (p.Pro778Ala)
c.3517C>G (p.Pro1173Ala)
c.3103C>G (p.Pro1035Ala)
c.3709C>G (p.Pro1237Ala)
c.4063C>G (p.Pro1355Ala)
dbSNP gnomAD v3 gnomAD v4
2g.25742454G=CA1239490480ASXL2c.3880C= (p.Pro1294=)
c.3883C= (p.Pro1295=)
c.3799C= (p.Pro1267=)
c.2332C= (p.Pro778=)
c.3517C= (p.Pro1173=)
c.3103C= (p.Pro1035=)
c.3709C= (p.Pro1237=)
c.4063C= (p.Pro1355=)
2g.25742454G>TCA346075460ASXL2c.3880C>A (p.Pro1294Thr)
c.3883C>A (p.Pro1295Thr)
c.3799C>A (p.Pro1267Thr)
c.2332C>A (p.Pro778Thr)
c.3517C>A (p.Pro1173Thr)
c.3103C>A (p.Pro1035Thr)
c.3709C>A (p.Pro1237Thr)
c.4063C>A (p.Pro1355Thr)
2g.25742455A=CA1239490481ASXL2c.3879T= (p.Leu1293=)
c.3882T= (p.Leu1294=)
c.3798T= (p.Leu1266=)
c.2331T= (p.Leu777=)
c.3516T= (p.Leu1172=)
c.3102T= (p.Leu1034=)
c.3708T= (p.Leu1236=)
c.4062T= (p.Leu1354=)
2g.25742455A>CCA425354959ASXL2c.3879T>G (p.Leu1293=)
c.3882T>G (p.Leu1294=)
c.3798T>G (p.Leu1266=)
c.2331T>G (p.Leu777=)
c.3516T>G (p.Leu1172=)
c.3102T>G (p.Leu1034=)
c.3708T>G (p.Leu1236=)
c.4062T>G (p.Leu1354=)
2g.25742455A>GCA425354964ASXL2c.3879T>C (p.Leu1293=)
c.3882T>C (p.Leu1294=)
c.3798T>C (p.Leu1266=)
c.2331T>C (p.Leu777=)
c.3516T>C (p.Leu1172=)
c.3102T>C (p.Leu1034=)
c.3708T>C (p.Leu1236=)
c.4062T>C (p.Leu1354=)
2g.25742455A>TCA1557406ASXL2c.3879T>A (p.Leu1293=)
c.3882T>A (p.Leu1294=)
c.3798T>A (p.Leu1266=)
c.2331T>A (p.Leu777=)
c.3516T>A (p.Leu1172=)
c.3102T>A (p.Leu1034=)
c.3708T>A (p.Leu1236=)
c.4062T>A (p.Leu1354=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742456A=CA1239490482ASXL2c.3878T= (p.Leu1293=)
c.3881T= (p.Leu1294=)
c.3797T= (p.Leu1266=)
c.2330T= (p.Leu777=)
c.3515T= (p.Leu1172=)
c.3101T= (p.Leu1034=)
c.3707T= (p.Leu1236=)
c.4061T= (p.Leu1354=)
2g.25742456A>CCA346075467ASXL2c.3878T>G (p.Leu1293Arg)
c.3881T>G (p.Leu1294Arg)
c.3797T>G (p.Leu1266Arg)
c.2330T>G (p.Leu777Arg)
c.3515T>G (p.Leu1172Arg)
c.3101T>G (p.Leu1034Arg)
c.3707T>G (p.Leu1236Arg)
c.4061T>G (p.Leu1354Arg)
2g.25742456A>GCA346075470ASXL2c.3878T>C (p.Leu1293Pro)
c.3881T>C (p.Leu1294Pro)
c.3797T>C (p.Leu1266Pro)
c.2330T>C (p.Leu777Pro)
c.3515T>C (p.Leu1172Pro)
c.3101T>C (p.Leu1034Pro)
c.3707T>C (p.Leu1236Pro)
c.4061T>C (p.Leu1354Pro)
dbSNP gnomAD v4
2g.25742456A>TCA346075472ASXL2c.3878T>A (p.Leu1293His)
c.3881T>A (p.Leu1294His)
c.3797T>A (p.Leu1266His)
c.2330T>A (p.Leu777His)
c.3515T>A (p.Leu1172His)
c.3101T>A (p.Leu1034His)
c.3707T>A (p.Leu1236His)
c.4061T>A (p.Leu1354His)
2g.25742457G>ACA43734294ASXL2c.3877C>T (p.Leu1293Phe)
c.3880C>T (p.Leu1294Phe)
c.3796C>T (p.Leu1266Phe)
c.2329C>T (p.Leu777Phe)
c.3514C>T (p.Leu1172Phe)
c.3100C>T (p.Leu1034Phe)
c.3706C>T (p.Leu1236Phe)
c.4060C>T (p.Leu1354Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742457G>CCA346075478ASXL2c.3877C>G (p.Leu1293Val)
c.3880C>G (p.Leu1294Val)
c.3796C>G (p.Leu1266Val)
c.2329C>G (p.Leu777Val)
c.3514C>G (p.Leu1172Val)
c.3100C>G (p.Leu1034Val)
c.3706C>G (p.Leu1236Val)
c.4060C>G (p.Leu1354Val)
COSMIC COSMIC
2g.25742457G=CA1239490483ASXL2c.3877C= (p.Leu1293=)
c.3880C= (p.Leu1294=)
c.3796C= (p.Leu1266=)
c.2329C= (p.Leu777=)
c.3514C= (p.Leu1172=)
c.3100C= (p.Leu1034=)
c.3706C= (p.Leu1236=)
c.4060C= (p.Leu1354=)
2g.25742457G>TCA346075480ASXL2c.3877C>A (p.Leu1293Ile)
c.3880C>A (p.Leu1294Ile)
c.3796C>A (p.Leu1266Ile)
c.2329C>A (p.Leu777Ile)
c.3514C>A (p.Leu1172Ile)
c.3100C>A (p.Leu1034Ile)
c.3706C>A (p.Leu1236Ile)
c.4060C>A (p.Leu1354Ile)
2g.25742458A>CCA425354970ASXL2c.3876T>G (p.Val1292=)
c.3879T>G (p.Val1293=)
c.3795T>G (p.Val1265=)
c.2328T>G (p.Val776=)
c.3513T>G (p.Val1171=)
c.3099T>G (p.Val1033=)
c.3705T>G (p.Val1235=)
c.4059T>G (p.Val1353=)
2g.25742458A>GCA425354972ASXL2c.3876T>C (p.Val1292=)
c.3879T>C (p.Val1293=)
c.3795T>C (p.Val1265=)
c.2328T>C (p.Val776=)
c.3513T>C (p.Val1171=)
c.3099T>C (p.Val1033=)
c.3705T>C (p.Val1235=)
c.4059T>C (p.Val1353=)
2g.25742458A>TCA425354974ASXL2c.3876T>A (p.Val1292=)
c.3879T>A (p.Val1293=)
c.3795T>A (p.Val1265=)
c.2328T>A (p.Val776=)
c.3513T>A (p.Val1171=)
c.3099T>A (p.Val1033=)
c.3705T>A (p.Val1235=)
c.4059T>A (p.Val1353=)
2g.25742459A>CCA346075490ASXL2c.3875T>G (p.Val1292Gly)
c.3878T>G (p.Val1293Gly)
c.3794T>G (p.Val1265Gly)
c.2327T>G (p.Val776Gly)
c.3512T>G (p.Val1171Gly)
c.3098T>G (p.Val1033Gly)
c.3704T>G (p.Val1235Gly)
c.4058T>G (p.Val1353Gly)
2g.25742459A>GCA346075487ASXL2c.3875T>C (p.Val1292Ala)
c.3878T>C (p.Val1293Ala)
c.3794T>C (p.Val1265Ala)
c.2327T>C (p.Val776Ala)
c.3512T>C (p.Val1171Ala)
c.3098T>C (p.Val1033Ala)
c.3704T>C (p.Val1235Ala)
c.4058T>C (p.Val1353Ala)
2g.25742459A>TCA346075484ASXL2c.3875T>A (p.Val1292Asp)
c.3878T>A (p.Val1293Asp)
c.3794T>A (p.Val1265Asp)
c.2327T>A (p.Val776Asp)
c.3512T>A (p.Val1171Asp)
c.3098T>A (p.Val1033Asp)
c.3704T>A (p.Val1235Asp)
c.4058T>A (p.Val1353Asp)
2g.25742460C>ACA346075495ASXL2c.3874G>T (p.Val1292Phe)
c.3877G>T (p.Val1293Phe)
c.3793G>T (p.Val1265Phe)
c.2326G>T (p.Val776Phe)
c.3511G>T (p.Val1171Phe)
c.3097G>T (p.Val1033Phe)
c.3703G>T (p.Val1235Phe)
c.4057G>T (p.Val1353Phe)
gnomAD v4
2g.25742460C=CA1239490484ASXL2c.3874G= (p.Val1292=)
c.3877G= (p.Val1293=)
c.3793G= (p.Val1265=)
c.2326G= (p.Val776=)
c.3511G= (p.Val1171=)
c.3097G= (p.Val1033=)
c.3703G= (p.Val1235=)
c.4057G= (p.Val1353=)
2g.25742460C>GCA43734296ASXL2c.3874G>C (p.Val1292Leu)
c.3877G>C (p.Val1293Leu)
c.3793G>C (p.Val1265Leu)
c.2326G>C (p.Val776Leu)
c.3511G>C (p.Val1171Leu)
c.3097G>C (p.Val1033Leu)
c.3703G>C (p.Val1235Leu)
c.4057G>C (p.Val1353Leu)
dbSNP
2g.25742460C>TCA346075498ASXL2c.3874G>A (p.Val1292Ile)
c.3877G>A (p.Val1293Ile)
c.3793G>A (p.Val1265Ile)
c.2326G>A (p.Val776Ile)
c.3511G>A (p.Val1171Ile)
c.3097G>A (p.Val1033Ile)
c.3703G>A (p.Val1235Ile)
c.4057G>A (p.Val1353Ile)
2g.25742461A=CA1239490485ASXL2c.3873T= (p.Thr1291=)
c.3876T= (p.Thr1292=)
c.3792T= (p.Thr1264=)
c.2325T= (p.Thr775=)
c.3510T= (p.Thr1170=)
c.3096T= (p.Thr1032=)
c.3702T= (p.Thr1234=)
c.4056T= (p.Thr1352=)
2g.25742461A>CCA425354980ASXL2c.3873T>G (p.Thr1291=)
c.3876T>G (p.Thr1292=)
c.3792T>G (p.Thr1264=)
c.2325T>G (p.Thr775=)
c.3510T>G (p.Thr1170=)
c.3096T>G (p.Thr1032=)
c.3702T>G (p.Thr1234=)
c.4056T>G (p.Thr1352=)
2g.25742461A>GCA425354981ASXL2c.3873T>C (p.Thr1291=)
c.3876T>C (p.Thr1292=)
c.3792T>C (p.Thr1264=)
c.2325T>C (p.Thr775=)
c.3510T>C (p.Thr1170=)
c.3096T>C (p.Thr1032=)
c.3702T>C (p.Thr1234=)
c.4056T>C (p.Thr1352=)
dbSNP gnomAD v2 gnomAD v4
2g.25742461A>TCA425354982ASXL2c.3873T>A (p.Thr1291=)
c.3876T>A (p.Thr1292=)
c.3792T>A (p.Thr1264=)
c.2325T>A (p.Thr775=)
c.3510T>A (p.Thr1170=)
c.3096T>A (p.Thr1032=)
c.3702T>A (p.Thr1234=)
c.4056T>A (p.Thr1352=)
2g.25742462G>ACA1557407ASXL2c.3872C>T (p.Thr1291Ile)
c.3875C>T (p.Thr1292Ile)
c.3791C>T (p.Thr1264Ile)
c.2324C>T (p.Thr775Ile)
c.3509C>T (p.Thr1170Ile)
c.3095C>T (p.Thr1032Ile)
c.3701C>T (p.Thr1234Ile)
c.4055C>T (p.Thr1352Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742462G>CCA346075506ASXL2c.3872C>G (p.Thr1291Ser)
c.3875C>G (p.Thr1292Ser)
c.3791C>G (p.Thr1264Ser)
c.2324C>G (p.Thr775Ser)
c.3509C>G (p.Thr1170Ser)
c.3095C>G (p.Thr1032Ser)
c.3701C>G (p.Thr1234Ser)
c.4055C>G (p.Thr1352Ser)
dbSNP
2g.25742462G=CA1239490486ASXL2c.3872C= (p.Thr1291=)
c.3875C= (p.Thr1292=)
c.3791C= (p.Thr1264=)
c.2324C= (p.Thr775=)
c.3509C= (p.Thr1170=)
c.3095C= (p.Thr1032=)
c.3701C= (p.Thr1234=)
c.4055C= (p.Thr1352=)
2g.25742462G>TCA346075508ASXL2c.3872C>A (p.Thr1291Asn)
c.3875C>A (p.Thr1292Asn)
c.3791C>A (p.Thr1264Asn)
c.2324C>A (p.Thr775Asn)
c.3509C>A (p.Thr1170Asn)
c.3095C>A (p.Thr1032Asn)
c.3701C>A (p.Thr1234Asn)
c.4055C>A (p.Thr1352Asn)
2g.25742463T>ACA346075510ASXL2c.3871A>T (p.Thr1291Ser)
c.3874A>T (p.Thr1292Ser)
c.3790A>T (p.Thr1264Ser)
c.2323A>T (p.Thr775Ser)
c.3508A>T (p.Thr1170Ser)
c.3094A>T (p.Thr1032Ser)
c.3700A>T (p.Thr1234Ser)
c.4054A>T (p.Thr1352Ser)
2g.25742463T>CCA1557408ASXL2c.3871A>G (p.Thr1291Ala)
c.3874A>G (p.Thr1292Ala)
c.3790A>G (p.Thr1264Ala)
c.2323A>G (p.Thr775Ala)
c.3508A>G (p.Thr1170Ala)
c.3094A>G (p.Thr1032Ala)
c.3700A>G (p.Thr1234Ala)
c.4054A>G (p.Thr1352Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742463T>GCA346075513ASXL2c.3871A>C (p.Thr1291Pro)
c.3874A>C (p.Thr1292Pro)
c.3790A>C (p.Thr1264Pro)
c.2323A>C (p.Thr775Pro)
c.3508A>C (p.Thr1170Pro)
c.3094A>C (p.Thr1032Pro)
c.3700A>C (p.Thr1234Pro)
c.4054A>C (p.Thr1352Pro)
2g.25742463T=CA1239490487ASXL2c.3871A= (p.Thr1291=)
c.3874A= (p.Thr1292=)
c.3790A= (p.Thr1264=)
c.2323A= (p.Thr775=)
c.3508A= (p.Thr1170=)
c.3094A= (p.Thr1032=)
c.3700A= (p.Thr1234=)
c.4054A= (p.Thr1352=)
2g.25742465_25742488dupCA2658189303ASXL2c.3848_3871dup (p.Ser1290_Thr1291insSerSerProGluLeuPheSerSer)
c.3851_3874dup (p.Ser1291_Thr1292insSerSerProGluLeuPheSerSer)
c.3767_3790dup (p.Ser1263_Thr1264insSerSerProGluLeuPheSerSer)
c.2300_2323dup (p.Ser774_Thr775insSerSerProGluLeuPheSerSer)
c.3485_3508dup (p.Ser1169_Thr1170insSerSerProGluLeuPheSerSer)
c.3071_3094dup (p.Ser1031_Thr1032insSerSerProGluLeuPheSerSer)
c.3677_3700dup (p.Ser1233_Thr1234insSerSerProGluLeuPheSerSer)
c.4031_4054dup (p.Ser1351_Thr1352insSerSerProGluLeuPheSerSer)
gnomAD v4
2g.25742464A>CCA425354988ASXL2c.3870T>G (p.Ser1290=)
c.3873T>G (p.Ser1291=)
c.3789T>G (p.Ser1263=)
c.2322T>G (p.Ser774=)
c.3507T>G (p.Ser1169=)
c.3093T>G (p.Ser1031=)
c.3699T>G (p.Ser1233=)
c.4053T>G (p.Ser1351=)
2g.25742464A>GCA425354989ASXL2c.3870T>C (p.Ser1290=)
c.3873T>C (p.Ser1291=)
c.3789T>C (p.Ser1263=)
c.2322T>C (p.Ser774=)
c.3507T>C (p.Ser1169=)
c.3093T>C (p.Ser1031=)
c.3699T>C (p.Ser1233=)
c.4053T>C (p.Ser1351=)
2g.25742464A>TCA425354990ASXL2c.3870T>A (p.Ser1290=)
c.3873T>A (p.Ser1291=)
c.3789T>A (p.Ser1263=)
c.2322T>A (p.Ser774=)
c.3507T>A (p.Ser1169=)
c.3093T>A (p.Ser1031=)
c.3699T>A (p.Ser1233=)
c.4053T>A (p.Ser1351=)
2g.25742465G>ACA346075516ASXL2c.3869C>T (p.Ser1290Phe)
c.3872C>T (p.Ser1291Phe)
c.3788C>T (p.Ser1263Phe)
c.2321C>T (p.Ser774Phe)
c.3506C>T (p.Ser1169Phe)
c.3092C>T (p.Ser1031Phe)
c.3698C>T (p.Ser1233Phe)
c.4052C>T (p.Ser1351Phe)
2g.25742465G>CCA346075518ASXL2c.3869C>G (p.Ser1290Cys)
c.3872C>G (p.Ser1291Cys)
c.3788C>G (p.Ser1263Cys)
c.2321C>G (p.Ser774Cys)
c.3506C>G (p.Ser1169Cys)
c.3092C>G (p.Ser1031Cys)
c.3698C>G (p.Ser1233Cys)
c.4052C>G (p.Ser1351Cys)
dbSNP gnomAD v3 gnomAD v4
2g.25742465G=CA1239490488ASXL2c.3869C= (p.Ser1290=)
c.3872C= (p.Ser1291=)
c.3788C= (p.Ser1263=)
c.2321C= (p.Ser774=)
c.3506C= (p.Ser1169=)
c.3092C= (p.Ser1031=)
c.3698C= (p.Ser1233=)
c.4052C= (p.Ser1351=)
2g.25742465G>TCA346075519ASXL2c.3869C>A (p.Ser1290Tyr)
c.3872C>A (p.Ser1291Tyr)
c.3788C>A (p.Ser1263Tyr)
c.2321C>A (p.Ser774Tyr)
c.3506C>A (p.Ser1169Tyr)
c.3092C>A (p.Ser1031Tyr)
c.3698C>A (p.Ser1233Tyr)
c.4052C>A (p.Ser1351Tyr)
2g.25742466A>CCA346075521ASXL2c.3868T>G (p.Ser1290Ala)
c.3871T>G (p.Ser1291Ala)
c.3787T>G (p.Ser1263Ala)
c.2320T>G (p.Ser774Ala)
c.3505T>G (p.Ser1169Ala)
c.3091T>G (p.Ser1031Ala)
c.3697T>G (p.Ser1233Ala)
c.4051T>G (p.Ser1351Ala)
2g.25742466A>GCA346075522ASXL2c.3868T>C (p.Ser1290Pro)
c.3871T>C (p.Ser1291Pro)
c.3787T>C (p.Ser1263Pro)
c.2320T>C (p.Ser774Pro)
c.3505T>C (p.Ser1169Pro)
c.3091T>C (p.Ser1031Pro)
c.3697T>C (p.Ser1233Pro)
c.4051T>C (p.Ser1351Pro)
2g.25742466A>TCA346075523ASXL2c.3868T>A (p.Ser1290Thr)
c.3871T>A (p.Ser1291Thr)
c.3787T>A (p.Ser1263Thr)
c.2320T>A (p.Ser774Thr)
c.3505T>A (p.Ser1169Thr)
c.3091T>A (p.Ser1031Thr)
c.3697T>A (p.Ser1233Thr)
c.4051T>A (p.Ser1351Thr)
2g.25742467A>CCA346075528ASXL2c.3867T>G (p.Ser1289Arg)
c.3870T>G (p.Ser1290Arg)
c.3786T>G (p.Ser1262Arg)
c.2319T>G (p.Ser773Arg)
c.3504T>G (p.Ser1168Arg)
c.3090T>G (p.Ser1030Arg)
c.3696T>G (p.Ser1232Arg)
c.4050T>G (p.Ser1350Arg)
2g.25742467A>GCA425353680ASXL2c.3867T>C (p.Ser1289=)
c.3870T>C (p.Ser1290=)
c.3786T>C (p.Ser1262=)
c.2319T>C (p.Ser773=)
c.3504T>C (p.Ser1168=)
c.3090T>C (p.Ser1030=)
c.3696T>C (p.Ser1232=)
c.4050T>C (p.Ser1350=)
2g.25742467A>TCA346075526ASXL2c.3867T>A (p.Ser1289Arg)
c.3870T>A (p.Ser1290Arg)
c.3786T>A (p.Ser1262Arg)
c.2319T>A (p.Ser773Arg)
c.3504T>A (p.Ser1168Arg)
c.3090T>A (p.Ser1030Arg)
c.3696T>A (p.Ser1232Arg)
c.4050T>A (p.Ser1350Arg)
2g.25742468C>ACA346075530ASXL2c.3866G>T (p.Ser1289Ile)
c.3869G>T (p.Ser1290Ile)
c.3785G>T (p.Ser1262Ile)
c.2318G>T (p.Ser773Ile)
c.3503G>T (p.Ser1168Ile)
c.3089G>T (p.Ser1030Ile)
c.3695G>T (p.Ser1232Ile)
c.4049G>T (p.Ser1350Ile)
2g.25742468C>GCA346075532ASXL2c.3866G>C (p.Ser1289Thr)
c.3869G>C (p.Ser1290Thr)
c.3785G>C (p.Ser1262Thr)
c.2318G>C (p.Ser773Thr)
c.3503G>C (p.Ser1168Thr)
c.3089G>C (p.Ser1030Thr)
c.3695G>C (p.Ser1232Thr)
c.4049G>C (p.Ser1350Thr)
COSMIC COSMIC
2g.25742468C>TCA346075535ASXL2c.3866G>A (p.Ser1289Asn)
c.3869G>A (p.Ser1290Asn)
c.3785G>A (p.Ser1262Asn)
c.2318G>A (p.Ser773Asn)
c.3503G>A (p.Ser1168Asn)
c.3089G>A (p.Ser1030Asn)
c.3695G>A (p.Ser1232Asn)
c.4049G>A (p.Ser1350Asn)
ClinVar dbSNP
2g.25742469T>ACA346075537ASXL2c.3865A>T (p.Ser1289Cys)
c.3868A>T (p.Ser1290Cys)
c.3784A>T (p.Ser1262Cys)
c.2317A>T (p.Ser773Cys)
c.3502A>T (p.Ser1168Cys)
c.3088A>T (p.Ser1030Cys)
c.3694A>T (p.Ser1232Cys)
c.4048A>T (p.Ser1350Cys)
2g.25742469T>CCA346075539ASXL2c.3865A>G (p.Ser1289Gly)
c.3868A>G (p.Ser1290Gly)
c.3784A>G (p.Ser1262Gly)
c.2317A>G (p.Ser773Gly)
c.3502A>G (p.Ser1168Gly)
c.3088A>G (p.Ser1030Gly)
c.3694A>G (p.Ser1232Gly)
c.4048A>G (p.Ser1350Gly)
2g.25742469T>GCA346075541ASXL2c.3865A>C (p.Ser1289Arg)
c.3868A>C (p.Ser1290Arg)
c.3784A>C (p.Ser1262Arg)
c.2317A>C (p.Ser773Arg)
c.3502A>C (p.Ser1168Arg)
c.3088A>C (p.Ser1030Arg)
c.3694A>C (p.Ser1232Arg)
c.4048A>C (p.Ser1350Arg)
2g.25742470G>ACA425353681ASXL2c.3864C>T (p.Phe1288=)
c.3867C>T (p.Phe1289=)
c.3783C>T (p.Phe1261=)
c.2316C>T (p.Phe772=)
c.3501C>T (p.Phe1167=)
c.3087C>T (p.Phe1029=)
c.3693C>T (p.Phe1231=)
c.4047C>T (p.Phe1349=)
2g.25742470G>CCA346075545ASXL2c.3864C>G (p.Phe1288Leu)
c.3867C>G (p.Phe1289Leu)
c.3783C>G (p.Phe1261Leu)
c.2316C>G (p.Phe772Leu)
c.3501C>G (p.Phe1167Leu)
c.3087C>G (p.Phe1029Leu)
c.3693C>G (p.Phe1231Leu)
c.4047C>G (p.Phe1349Leu)
2g.25742470G>TCA346075544ASXL2c.3864C>A (p.Phe1288Leu)
c.3867C>A (p.Phe1289Leu)
c.3783C>A (p.Phe1261Leu)
c.2316C>A (p.Phe772Leu)
c.3501C>A (p.Phe1167Leu)
c.3087C>A (p.Phe1029Leu)
c.3693C>A (p.Phe1231Leu)
c.4047C>A (p.Phe1349Leu)
2g.25742471A>CCA346075547ASXL2c.3863T>G (p.Phe1288Cys)
c.3866T>G (p.Phe1289Cys)
c.3782T>G (p.Phe1261Cys)
c.2315T>G (p.Phe772Cys)
c.3500T>G (p.Phe1167Cys)
c.3086T>G (p.Phe1029Cys)
c.3692T>G (p.Phe1231Cys)
c.4046T>G (p.Phe1349Cys)
2g.25742471A>GCA346075549ASXL2c.3863T>C (p.Phe1288Ser)
c.3866T>C (p.Phe1289Ser)
c.3782T>C (p.Phe1261Ser)
c.2315T>C (p.Phe772Ser)
c.3500T>C (p.Phe1167Ser)
c.3086T>C (p.Phe1029Ser)
c.3692T>C (p.Phe1231Ser)
c.4046T>C (p.Phe1349Ser)
2g.25742471A>TCA346075552ASXL2c.3863T>A (p.Phe1288Tyr)
c.3866T>A (p.Phe1289Tyr)
c.3782T>A (p.Phe1261Tyr)
c.2315T>A (p.Phe772Tyr)
c.3500T>A (p.Phe1167Tyr)
c.3086T>A (p.Phe1029Tyr)
c.3692T>A (p.Phe1231Tyr)
c.4046T>A (p.Phe1349Tyr)
2g.25742472A>CCA346075555ASXL2c.3862T>G (p.Phe1288Val)
c.3865T>G (p.Phe1289Val)
c.3781T>G (p.Phe1261Val)
c.2314T>G (p.Phe772Val)
c.3499T>G (p.Phe1167Val)
c.3085T>G (p.Phe1029Val)
c.3691T>G (p.Phe1231Val)
c.4045T>G (p.Phe1349Val)
2g.25742472A>GCA346075557ASXL2c.3862T>C (p.Phe1288Leu)
c.3865T>C (p.Phe1289Leu)
c.3781T>C (p.Phe1261Leu)
c.2314T>C (p.Phe772Leu)
c.3499T>C (p.Phe1167Leu)
c.3085T>C (p.Phe1029Leu)
c.3691T>C (p.Phe1231Leu)
c.4045T>C (p.Phe1349Leu)
2g.25742472A>TCA346075558ASXL2c.3862T>A (p.Phe1288Ile)
c.3865T>A (p.Phe1289Ile)
c.3781T>A (p.Phe1261Ile)
c.2314T>A (p.Phe772Ile)
c.3499T>A (p.Phe1167Ile)
c.3085T>A (p.Phe1029Ile)
c.3691T>A (p.Phe1231Ile)
c.4045T>A (p.Phe1349Ile)
2g.25742473A>CCA425353684ASXL2c.3861T>G (p.Leu1287=)
c.3864T>G (p.Leu1288=)
c.3780T>G (p.Leu1260=)
c.2313T>G (p.Leu771=)
c.3498T>G (p.Leu1166=)
c.3084T>G (p.Leu1028=)
c.3690T>G (p.Leu1230=)
c.4044T>G (p.Leu1348=)
gnomAD v4
2g.25742473A>GCA425353682ASXL2c.3861T>C (p.Leu1287=)
c.3864T>C (p.Leu1288=)
c.3780T>C (p.Leu1260=)
c.2313T>C (p.Leu771=)
c.3498T>C (p.Leu1166=)
c.3084T>C (p.Leu1028=)
c.3690T>C (p.Leu1230=)
c.4044T>C (p.Leu1348=)
2g.25742473A>TCA425353683ASXL2c.3861T>A (p.Leu1287=)
c.3864T>A (p.Leu1288=)
c.3780T>A (p.Leu1260=)
c.2313T>A (p.Leu771=)
c.3498T>A (p.Leu1166=)
c.3084T>A (p.Leu1028=)
c.3690T>A (p.Leu1230=)
c.4044T>A (p.Leu1348=)
2g.25742474A=CA1239490489ASXL2c.3860T= (p.Leu1287=)
c.3863T= (p.Leu1288=)
c.3779T= (p.Leu1260=)
c.2312T= (p.Leu771=)
c.3497T= (p.Leu1166=)
c.3083T= (p.Leu1028=)
c.3689T= (p.Leu1230=)
c.4043T= (p.Leu1348=)
2g.25742474A>CCA346075562ASXL2c.3860T>G (p.Leu1287Arg)
c.3863T>G (p.Leu1288Arg)
c.3779T>G (p.Leu1260Arg)
c.2312T>G (p.Leu771Arg)
c.3497T>G (p.Leu1166Arg)
c.3083T>G (p.Leu1028Arg)
c.3689T>G (p.Leu1230Arg)
c.4043T>G (p.Leu1348Arg)
dbSNP
2g.25742474A>GCA346075565ASXL2c.3860T>C (p.Leu1287Pro)
c.3863T>C (p.Leu1288Pro)
c.3779T>C (p.Leu1260Pro)
c.2312T>C (p.Leu771Pro)
c.3497T>C (p.Leu1166Pro)
c.3083T>C (p.Leu1028Pro)
c.3689T>C (p.Leu1230Pro)
c.4043T>C (p.Leu1348Pro)
2g.25742474A>TCA346075563ASXL2c.3860T>A (p.Leu1287His)
c.3863T>A (p.Leu1288His)
c.3779T>A (p.Leu1260His)
c.2312T>A (p.Leu771His)
c.3497T>A (p.Leu1166His)
c.3083T>A (p.Leu1028His)
c.3689T>A (p.Leu1230His)
c.4043T>A (p.Leu1348His)
2g.25742475G>ACA346075566ASXL2c.3859C>T (p.Leu1287Phe)
c.3862C>T (p.Leu1288Phe)
c.3778C>T (p.Leu1260Phe)
c.2311C>T (p.Leu771Phe)
c.3496C>T (p.Leu1166Phe)
c.3082C>T (p.Leu1028Phe)
c.3688C>T (p.Leu1230Phe)
c.4042C>T (p.Leu1348Phe)
2g.25742475G>CCA346075567ASXL2c.3859C>G (p.Leu1287Val)
c.3862C>G (p.Leu1288Val)
c.3778C>G (p.Leu1260Val)
c.2311C>G (p.Leu771Val)
c.3496C>G (p.Leu1166Val)
c.3082C>G (p.Leu1028Val)
c.3688C>G (p.Leu1230Val)
c.4042C>G (p.Leu1348Val)
2g.25742475G>TCA346075568ASXL2c.3859C>A (p.Leu1287Ile)
c.3862C>A (p.Leu1288Ile)
c.3778C>A (p.Leu1260Ile)
c.2311C>A (p.Leu771Ile)
c.3496C>A (p.Leu1166Ile)
c.3082C>A (p.Leu1028Ile)
c.3688C>A (p.Leu1230Ile)
c.4042C>A (p.Leu1348Ile)
gnomAD v4 COSMIC COSMIC
2g.25742476C>ACA346075569ASXL2c.3858G>T (p.Glu1286Asp)
c.3861G>T (p.Glu1287Asp)
c.3777G>T (p.Glu1259Asp)
c.2310G>T (p.Glu770Asp)
c.3495G>T (p.Glu1165Asp)
c.3081G>T (p.Glu1027Asp)
c.3687G>T (p.Glu1229Asp)
c.4041G>T (p.Glu1347Asp)
2g.25742476C=CA1239490490ASXL2c.3858G= (p.Glu1286=)
c.3861G= (p.Glu1287=)
c.3777G= (p.Glu1259=)
c.2310G= (p.Glu770=)
c.3495G= (p.Glu1165=)
c.3081G= (p.Glu1027=)
c.3687G= (p.Glu1229=)
c.4041G= (p.Glu1347=)
2g.25742476C>GCA346075570ASXL2c.3858G>C (p.Glu1286Asp)
c.3861G>C (p.Glu1287Asp)
c.3777G>C (p.Glu1259Asp)
c.2310G>C (p.Glu770Asp)
c.3495G>C (p.Glu1165Asp)
c.3081G>C (p.Glu1027Asp)
c.3687G>C (p.Glu1229Asp)
c.4041G>C (p.Glu1347Asp)
2g.25742476C>TCA425353685ASXL2c.3858G>A (p.Glu1286=)
c.3861G>A (p.Glu1287=)
c.3777G>A (p.Glu1259=)
c.2310G>A (p.Glu770=)
c.3495G>A (p.Glu1165=)
c.3081G>A (p.Glu1027=)
c.3687G>A (p.Glu1229=)
c.4041G>A (p.Glu1347=)
dbSNP gnomAD v2 gnomAD v4
2g.25742477T>ACA346075571ASXL2c.3857A>T (p.Glu1286Val)
c.3860A>T (p.Glu1287Val)
c.3776A>T (p.Glu1259Val)
c.2309A>T (p.Glu770Val)
c.3494A>T (p.Glu1165Val)
c.3080A>T (p.Glu1027Val)
c.3686A>T (p.Glu1229Val)
c.4040A>T (p.Glu1347Val)
2g.25742477T>CCA346075572ASXL2c.3857A>G (p.Glu1286Gly)
c.3860A>G (p.Glu1287Gly)
c.3776A>G (p.Glu1259Gly)
c.2309A>G (p.Glu770Gly)
c.3494A>G (p.Glu1165Gly)
c.3080A>G (p.Glu1027Gly)
c.3686A>G (p.Glu1229Gly)
c.4040A>G (p.Glu1347Gly)
2g.25742477T>GCA346075573ASXL2c.3857A>C (p.Glu1286Ala)
c.3860A>C (p.Glu1287Ala)
c.3776A>C (p.Glu1259Ala)
c.2309A>C (p.Glu770Ala)
c.3494A>C (p.Glu1165Ala)
c.3080A>C (p.Glu1027Ala)
c.3686A>C (p.Glu1229Ala)
c.4040A>C (p.Glu1347Ala)
2g.25742478C>ACA346075575ASXL2c.3856G>T (p.Glu1286Ter)
c.3859G>T (p.Glu1287Ter)
c.3775G>T (p.Glu1259Ter)
c.2308G>T (p.Glu770Ter)
c.3493G>T (p.Glu1165Ter)
c.3079G>T (p.Glu1027Ter)
c.3685G>T (p.Glu1229Ter)
c.4039G>T (p.Glu1347Ter)
2g.25742478C=CA1239490491ASXL2c.3856G= (p.Glu1286=)
c.3859G= (p.Glu1287=)
c.3775G= (p.Glu1259=)
c.2308G= (p.Glu770=)
c.3493G= (p.Glu1165=)
c.3079G= (p.Glu1027=)
c.3685G= (p.Glu1229=)
c.4039G= (p.Glu1347=)
2g.25742478C>GCA346075576ASXL2c.3856G>C (p.Glu1286Gln)
c.3859G>C (p.Glu1287Gln)
c.3775G>C (p.Glu1259Gln)
c.2308G>C (p.Glu770Gln)
c.3493G>C (p.Glu1165Gln)
c.3079G>C (p.Glu1027Gln)
c.3685G>C (p.Glu1229Gln)
c.4039G>C (p.Glu1347Gln)
gnomAD v4
2g.25742478C>TCA1557409ASXL2c.3856G>A (p.Glu1286Lys)
c.3859G>A (p.Glu1287Lys)
c.3775G>A (p.Glu1259Lys)
c.2308G>A (p.Glu770Lys)
c.3493G>A (p.Glu1165Lys)
c.3079G>A (p.Glu1027Lys)
c.3685G>A (p.Glu1229Lys)
c.4039G>A (p.Glu1347Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.25742479G>ACA1557410ASXL2c.3855C>T (p.Pro1285=)
c.3858C>T (p.Pro1286=)
c.3774C>T (p.Pro1258=)
c.2307C>T (p.Pro769=)
c.3492C>T (p.Pro1164=)
c.3078C>T (p.Pro1026=)
c.3684C>T (p.Pro1228=)
c.4038C>T (p.Pro1346=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742479G>CCA425353686ASXL2c.3855C>G (p.Pro1285=)
c.3858C>G (p.Pro1286=)
c.3774C>G (p.Pro1258=)
c.2307C>G (p.Pro769=)
c.3492C>G (p.Pro1164=)
c.3078C>G (p.Pro1026=)
c.3684C>G (p.Pro1228=)
c.4038C>G (p.Pro1346=)
gnomAD v3 gnomAD v4
2g.25742479G=CA1239490492ASXL2c.3855C= (p.Pro1285=)
c.3858C= (p.Pro1286=)
c.3774C= (p.Pro1258=)
c.2307C= (p.Pro769=)
c.3492C= (p.Pro1164=)
c.3078C= (p.Pro1026=)
c.3684C= (p.Pro1228=)
c.4038C= (p.Pro1346=)
2g.25742479G>TCA425353687ASXL2c.3855C>A (p.Pro1285=)
c.3858C>A (p.Pro1286=)
c.3774C>A (p.Pro1258=)
c.2307C>A (p.Pro769=)
c.3492C>A (p.Pro1164=)
c.3078C>A (p.Pro1026=)
c.3684C>A (p.Pro1228=)
c.4038C>A (p.Pro1346=)
2g.25742480G>ACA346075586ASXL2c.3854C>T (p.Pro1285Leu)
c.3857C>T (p.Pro1286Leu)
c.3773C>T (p.Pro1258Leu)
c.2306C>T (p.Pro769Leu)
c.3491C>T (p.Pro1164Leu)
c.3077C>T (p.Pro1026Leu)
c.3683C>T (p.Pro1228Leu)
c.4037C>T (p.Pro1346Leu)
gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.25742480G>CCA346075589ASXL2c.3854C>G (p.Pro1285Arg)
c.3857C>G (p.Pro1286Arg)
c.3773C>G (p.Pro1258Arg)
c.2306C>G (p.Pro769Arg)
c.3491C>G (p.Pro1164Arg)
c.3077C>G (p.Pro1026Arg)
c.3683C>G (p.Pro1228Arg)
c.4037C>G (p.Pro1346Arg)
2g.25742480G>TCA346075583ASXL2c.3854C>A (p.Pro1285His)
c.3857C>A (p.Pro1286His)
c.3773C>A (p.Pro1258His)
c.2306C>A (p.Pro769His)
c.3491C>A (p.Pro1164His)
c.3077C>A (p.Pro1026His)
c.3683C>A (p.Pro1228His)
c.4037C>A (p.Pro1346His)
2g.25742481G>ACA346075592ASXL2c.3853C>T (p.Pro1285Ser)
c.3856C>T (p.Pro1286Ser)
c.3772C>T (p.Pro1258Ser)
c.2305C>T (p.Pro769Ser)
c.3490C>T (p.Pro1164Ser)
c.3076C>T (p.Pro1026Ser)
c.3682C>T (p.Pro1228Ser)
c.4036C>T (p.Pro1346Ser)
dbSNP gnomAD v2
2g.25742481G>CCA346075595ASXL2c.3853C>G (p.Pro1285Ala)
c.3856C>G (p.Pro1286Ala)
c.3772C>G (p.Pro1258Ala)
c.2305C>G (p.Pro769Ala)
c.3490C>G (p.Pro1164Ala)
c.3076C>G (p.Pro1026Ala)
c.3682C>G (p.Pro1228Ala)
c.4036C>G (p.Pro1346Ala)
gnomAD v4
2g.25742481G=CA1239490493ASXL2c.3853C= (p.Pro1285=)
c.3856C= (p.Pro1286=)
c.3772C= (p.Pro1258=)
c.2305C= (p.Pro769=)
c.3490C= (p.Pro1164=)
c.3076C= (p.Pro1026=)
c.3682C= (p.Pro1228=)
c.4036C= (p.Pro1346=)
2g.25742481G>TCA346075598ASXL2c.3853C>A (p.Pro1285Thr)
c.3856C>A (p.Pro1286Thr)
c.3772C>A (p.Pro1258Thr)
c.2305C>A (p.Pro769Thr)
c.3490C>A (p.Pro1164Thr)
c.3076C>A (p.Pro1026Thr)
c.3682C>A (p.Pro1228Thr)
c.4036C>A (p.Pro1346Thr)
2g.25742482G>ACA425353688ASXL2c.3852C>T (p.Ser1284=)
c.3855C>T (p.Ser1285=)
c.3771C>T (p.Ser1257=)
c.2304C>T (p.Ser768=)
c.3489C>T (p.Ser1163=)
c.3075C>T (p.Ser1025=)
c.3681C>T (p.Ser1227=)
c.4035C>T (p.Ser1345=)
2g.25742482G>CCA346075601ASXL2c.3852C>G (p.Ser1284Arg)
c.3855C>G (p.Ser1285Arg)
c.3771C>G (p.Ser1257Arg)
c.2304C>G (p.Ser768Arg)
c.3489C>G (p.Ser1163Arg)
c.3075C>G (p.Ser1025Arg)
c.3681C>G (p.Ser1227Arg)
c.4035C>G (p.Ser1345Arg)
2g.25742482G>TCA346075604ASXL2c.3852C>A (p.Ser1284Arg)
c.3855C>A (p.Ser1285Arg)
c.3771C>A (p.Ser1257Arg)
c.2304C>A (p.Ser768Arg)
c.3489C>A (p.Ser1163Arg)
c.3075C>A (p.Ser1025Arg)
c.3681C>A (p.Ser1227Arg)
c.4035C>A (p.Ser1345Arg)
2g.25742483C>ACA346075613ASXL2c.3851G>T (p.Ser1284Ile)
c.3854G>T (p.Ser1285Ile)
c.3770G>T (p.Ser1257Ile)
c.2303G>T (p.Ser768Ile)
c.3488G>T (p.Ser1163Ile)
c.3074G>T (p.Ser1025Ile)
c.3680G>T (p.Ser1227Ile)
c.4034G>T (p.Ser1345Ile)
gnomAD v4
2g.25742483C>GCA346075608ASXL2c.3851G>C (p.Ser1284Thr)
c.3854G>C (p.Ser1285Thr)
c.3770G>C (p.Ser1257Thr)
c.2303G>C (p.Ser768Thr)
c.3488G>C (p.Ser1163Thr)
c.3074G>C (p.Ser1025Thr)
c.3680G>C (p.Ser1227Thr)
c.4034G>C (p.Ser1345Thr)
2g.25742483C>TCA346075610ASXL2c.3851G>A (p.Ser1284Asn)
c.3854G>A (p.Ser1285Asn)
c.3770G>A (p.Ser1257Asn)
c.2303G>A (p.Ser768Asn)
c.3488G>A (p.Ser1163Asn)
c.3074G>A (p.Ser1025Asn)
c.3680G>A (p.Ser1227Asn)
c.4034G>A (p.Ser1345Asn)
2g.25742483_25742484delinsCTCA1239490494ASXL2c.3850_3851delinsAG (p.Ser1284=)
c.3853_3854delinsAG (p.Ser1285=)
c.3769_3770delinsAG (p.Ser1257=)
c.2302_2303delinsAG (p.Ser768=)
c.3487_3488delinsAG (p.Ser1163=)
c.3073_3074delinsAG (p.Ser1025=)
c.3679_3680delinsAG (p.Ser1227=)
c.4033_4034delinsAG (p.Ser1345=)
2g.25742484delCA531761030ASXL2c.3850del (p.Ser1284AlafsTer?)
c.3853del (p.Ser1285AlafsTer?)
c.3769del (p.Ser1257AlafsTer?)
c.2302del (p.Ser768AlafsTer?)
c.3487del (p.Ser1163AlafsTer?)
c.3073del (p.Ser1025AlafsTer?)
c.3679del (p.Ser1227AlafsTer?)
c.4033del (p.Ser1345AlafsTer?)
dbSNP gnomAD v2 gnomAD v4
2g.25742484T>ACA346075615ASXL2c.3850A>T (p.Ser1284Cys)
c.3853A>T (p.Ser1285Cys)
c.3769A>T (p.Ser1257Cys)
c.2302A>T (p.Ser768Cys)
c.3487A>T (p.Ser1163Cys)
c.3073A>T (p.Ser1025Cys)
c.3679A>T (p.Ser1227Cys)
c.4033A>T (p.Ser1345Cys)
2g.25742484T>CCA346075617ASXL2c.3850A>G (p.Ser1284Gly)
c.3853A>G (p.Ser1285Gly)
c.3769A>G (p.Ser1257Gly)
c.2302A>G (p.Ser768Gly)
c.3487A>G (p.Ser1163Gly)
c.3073A>G (p.Ser1025Gly)
c.3679A>G (p.Ser1227Gly)
c.4033A>G (p.Ser1345Gly)
2g.25742484T>GCA346075618ASXL2c.3850A>C (p.Ser1284Arg)
c.3853A>C (p.Ser1285Arg)
c.3769A>C (p.Ser1257Arg)
c.2302A>C (p.Ser768Arg)
c.3487A>C (p.Ser1163Arg)
c.3073A>C (p.Ser1025Arg)
c.3679A>C (p.Ser1227Arg)
c.4033A>C (p.Ser1345Arg)
2g.25742485G>ACA425353689ASXL2c.3849C>T (p.Ser1283=)
c.3852C>T (p.Ser1284=)
c.3768C>T (p.Ser1256=)
c.2301C>T (p.Ser767=)
c.3486C>T (p.Ser1162=)
c.3072C>T (p.Ser1024=)
c.3678C>T (p.Ser1226=)
c.4032C>T (p.Ser1344=)
2g.25742485G>CCA346075621ASXL2c.3849C>G (p.Ser1283Arg)
c.3852C>G (p.Ser1284Arg)
c.3768C>G (p.Ser1256Arg)
c.2301C>G (p.Ser767Arg)
c.3486C>G (p.Ser1162Arg)
c.3072C>G (p.Ser1024Arg)
c.3678C>G (p.Ser1226Arg)
c.4032C>G (p.Ser1344Arg)
2g.25742485G>TCA346075623ASXL2c.3849C>A (p.Ser1283Arg)
c.3852C>A (p.Ser1284Arg)
c.3768C>A (p.Ser1256Arg)
c.2301C>A (p.Ser767Arg)
c.3486C>A (p.Ser1162Arg)
c.3072C>A (p.Ser1024Arg)
c.3678C>A (p.Ser1226Arg)
c.4032C>A (p.Ser1344Arg)
2g.25742486C>ACA346075628ASXL2c.3848G>T (p.Ser1283Ile)
c.3851G>T (p.Ser1284Ile)
c.3767G>T (p.Ser1256Ile)
c.2300G>T (p.Ser767Ile)
c.3485G>T (p.Ser1162Ile)
c.3071G>T (p.Ser1024Ile)
c.3677G>T (p.Ser1226Ile)
c.4031G>T (p.Ser1344Ile)
2g.25742486C>GCA346075635ASXL2c.3848G>C (p.Ser1283Thr)
c.3851G>C (p.Ser1284Thr)
c.3767G>C (p.Ser1256Thr)
c.2300G>C (p.Ser767Thr)
c.3485G>C (p.Ser1162Thr)
c.3071G>C (p.Ser1024Thr)
c.3677G>C (p.Ser1226Thr)
c.4031G>C (p.Ser1344Thr)
2g.25742486C>TCA346075632ASXL2c.3848G>A (p.Ser1283Asn)
c.3851G>A (p.Ser1284Asn)
c.3767G>A (p.Ser1256Asn)
c.2300G>A (p.Ser767Asn)
c.3485G>A (p.Ser1162Asn)
c.3071G>A (p.Ser1024Asn)
c.3677G>A (p.Ser1226Asn)
c.4031G>A (p.Ser1344Asn)
2g.25742487T>ACA346075638ASXL2c.3847A>T (p.Ser1283Cys)
c.3850A>T (p.Ser1284Cys)
c.3766A>T (p.Ser1256Cys)
c.2299A>T (p.Ser767Cys)
c.3484A>T (p.Ser1162Cys)
c.3070A>T (p.Ser1024Cys)
c.3676A>T (p.Ser1226Cys)
c.4030A>T (p.Ser1344Cys)
2g.25742487T>CCA1557411ASXL2c.3847A>G (p.Ser1283Gly)
c.3850A>G (p.Ser1284Gly)
c.3766A>G (p.Ser1256Gly)
c.2299A>G (p.Ser767Gly)
c.3484A>G (p.Ser1162Gly)
c.3070A>G (p.Ser1024Gly)
c.3676A>G (p.Ser1226Gly)
c.4030A>G (p.Ser1344Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742487T>GCA346075641ASXL2c.3847A>C (p.Ser1283Arg)
c.3850A>C (p.Ser1284Arg)
c.3766A>C (p.Ser1256Arg)
c.2299A>C (p.Ser767Arg)
c.3484A>C (p.Ser1162Arg)
c.3070A>C (p.Ser1024Arg)
c.3676A>C (p.Ser1226Arg)
c.4030A>C (p.Ser1344Arg)
2g.25742487T=CA1239490495ASXL2c.3847A= (p.Ser1283=)
c.3850A= (p.Ser1284=)
c.3766A= (p.Ser1256=)
c.2299A= (p.Ser767=)
c.3484A= (p.Ser1162=)
c.3070A= (p.Ser1024=)
c.3676A= (p.Ser1226=)
c.4030A= (p.Ser1344=)
2g.25742488A=CA1239490496ASXL2c.3846T= (p.Arg1282=)
c.3849T= (p.Arg1283=)
c.3765T= (p.Arg1255=)
c.2298T= (p.Arg766=)
c.3483T= (p.Arg1161=)
c.3069T= (p.Arg1023=)
c.3675T= (p.Arg1225=)
c.4029T= (p.Arg1343=)
2g.25742488A>CCA425353690ASXL2c.3846T>G (p.Arg1282=)
c.3849T>G (p.Arg1283=)
c.3765T>G (p.Arg1255=)
c.2298T>G (p.Arg766=)
c.3483T>G (p.Arg1161=)
c.3069T>G (p.Arg1023=)
c.3675T>G (p.Arg1225=)
c.4029T>G (p.Arg1343=)
2g.25742488A>GCA1557412ASXL2c.3846T>C (p.Arg1282=)
c.3849T>C (p.Arg1283=)
c.3765T>C (p.Arg1255=)
c.2298T>C (p.Arg766=)
c.3483T>C (p.Arg1161=)
c.3069T>C (p.Arg1023=)
c.3675T>C (p.Arg1225=)
c.4029T>C (p.Arg1343=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742488A>TCA425353691ASXL2c.3846T>A (p.Arg1282=)
c.3849T>A (p.Arg1283=)
c.3765T>A (p.Arg1255=)
c.2298T>A (p.Arg766=)
c.3483T>A (p.Arg1161=)
c.3069T>A (p.Arg1023=)
c.3675T>A (p.Arg1225=)
c.4029T>A (p.Arg1343=)
2g.25742489C>ACA1557414ASXL2c.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
2g.25742489C=CA1239490497ASXL2c.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=)
2g.25742489C>GCA346075652ASXL2c.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)
2g.25742489C>TCA1557413ASXL2c.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
2g.25742490G>ACA1557415ASXL2c.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
2g.25742490G>CCA346075660ASXL2c.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
2g.25742490G=CA1239490498ASXL2c.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=)
2g.25742490G>TCA346075663ASXL2c.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)
2g.25742491G>ACA425353692ASXL2c.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=)
2g.25742491G>CCA346075666ASXL2c.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)
2g.25742491G>TCA425353693ASXL2c.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=)
2g.25742492A>CCA346075668ASXL2c.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)
2g.25742492A>GCA346075670ASXL2c.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)
2g.25742492A>TCA346075673ASXL2c.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)
2g.25742493T>ACA1557416ASXL2c.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
2g.25742493T>CCA346075681ASXL2c.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
2g.25742493T>GCA346075677ASXL2c.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)
2g.25742493T=CA1239490499ASXL2c.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=)
2g.25742494T>ACA425353694ASXL2c.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=)
2g.25742494T>CCA425353695ASXL2c.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=)
2g.25742494T>GCA425353696ASXL2c.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
2g.25742494T=CA1239490500ASXL2c.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=)
2g.25742494_25742495insAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGCA531761031ASXL2c.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
2g.25742495G>ACA346075688ASXL2c.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)
2g.25742495G>CCA346075690ASXL2c.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)
2g.25742495G>TCA346075691ASXL2c.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)
2g.25742496C>ACA346075696ASXL2c.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)
2g.25742496C>GCA346075698ASXL2c.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)
2g.25742496C>TCA346075702ASXL2c.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)
2g.25742497C>ACA346075704ASXL2c.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)
2g.25742497C=CA1239490501ASXL2c.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=)
2g.25742497C>GCA346075706ASXL2c.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)
2g.25742497C>TCA425353697ASXL2c.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
2g.25742498T>ACA346075709ASXL2c.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
2g.25742498T>CCA346075711ASXL2c.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)
2g.25742498T>GCA346075714ASXL2c.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
2g.25742498T=CA1239490502ASXL2c.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=)
2g.25742499T>ACA346075725ASXL2c.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)
2g.25742499T>CCA346075721ASXL2c.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
2g.25742499T>GCA346075718ASXL2c.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)
2g.25742499T=CA1239490503ASXL2c.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=)
2g.25742500A>CCA425353699ASXL2c.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
2g.25742500A>GCA425353700ASXL2c.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=)
2g.25742500A>TCA425353698ASXL2c.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=)
2g.25742501C>ACA346075728ASXL2c.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)
2g.25742501C>GCA346075730ASXL2c.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)
2g.25742501C>TCA346075733ASXL2c.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)
2g.25742502C>ACA346075736ASXL2c.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)
2g.25742502C=CA1239490504ASXL2c.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=)
2g.25742502C>GCA346075737ASXL2c.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)
2g.25742502C>TCA346075738ASXL2c.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
2g.25742503T>ACA346075739ASXL2c.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)
2g.25742503T>CCA425353701ASXL2c.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=)
2g.25742503T>GCA346075740ASXL2c.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)
2g.25742504C>ACA346075742ASXL2c.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)
2g.25742504C=CA1239490505ASXL2c.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=)
2g.25742504C>GCA346075754ASXL2c.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
2g.25742504C>TCA346075758ASXL2c.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)
2g.25742505T>ACA346075761ASXL2c.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)
2g.25742505T>CCA346075763ASXL2c.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)
2g.25742505T>GCA425353702ASXL2c.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=)
2g.25742506C>ACA425353703ASXL2c.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=)
2g.25742506C>GCA425353705ASXL2c.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=)
2g.25742506C>TCA425353704ASXL2c.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=)
2g.25742507A=CA1239490506ASXL2c.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=)
2g.25742507A>CCA346075771ASXL2c.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)
2g.25742507A>GCA1557417ASXL2c.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
2g.25742507A>TCA346075769ASXL2c.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)
2g.25742508C>ACA346075774ASXL2c.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)
2g.25742508C>GCA346075777ASXL2c.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
2g.25742508C>TCA346075780ASXL2c.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)
2g.25742509T>ACA425353706ASXL2c.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=)
2g.25742509T>CCA43734310ASXL2c.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
2g.25742509T>GCA425353707ASXL2c.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=)
2g.25742509T=CA1239490507ASXL2c.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=)
2g.25742510G>ACA346075783ASXL2c.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
2g.25742510G>CCA346075786ASXL2c.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)
2g.25742510G>TCA346075789ASXL2c.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)
2g.25742511C>ACA346075792ASXL2c.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)
2g.25742511C>GCA346075795ASXL2c.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)
2g.25742511C>TCA346075798ASXL2c.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)
2g.25742512A=CA1239490508ASXL2c.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=)
2g.25742512A>CCA346075801ASXL2c.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)
2g.25742512A>GCA43734314ASXL2c.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
2g.25742512A>TCA346075805ASXL2c.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)
2g.25742513T>ACA346075812ASXL2c.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)
2g.25742513T>CCA346075813ASXL2c.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
2g.25742513T>GCA346075809ASXL2c.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
2g.25742513T=CA1239490509ASXL2c.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=)
2g.25742514G>ACA1557418ASXL2c.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
2g.25742514G>CCA346075817ASXL2c.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)
2g.25742514G=CA1239490510ASXL2c.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=)
2g.25742514G>TCA346075823ASXL2c.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)
2g.25742515A>CCA425353708ASXL2c.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=)
2g.25742515A>GCA425353709ASXL2c.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=)
2g.25742515A>TCA425353710ASXL2c.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=)
2g.25742516G>ACA346075827ASXL2c.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)
2g.25742516G>CCA346075831ASXL2c.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)
2g.25742516G>TCA346075830ASXL2c.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)
2g.25742517C>ACA346075832ASXL2c.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
2g.25742517C=CA1239490511ASXL2c.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=)
2g.25742517C>GCA43734318ASXL2c.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
2g.25742517C>TCA346075836ASXL2c.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)
2g.25742518C>ACA346075842ASXL2c.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
2g.25742518C>GCA346075845ASXL2c.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)
2g.25742518C>TCA346075847ASXL2c.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
2g.25742519A>CCA346075849ASXL2c.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)
2g.25742519A>GCA346075852ASXL2c.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)
2g.25742519A>TCA346075855ASXL2c.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)
2g.25742520T>ACA346075858ASXL2c.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)
2g.25742520T>CCA346075861ASXL2c.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)
2g.25742520T>GCA346075865ASXL2c.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)
2g.25742521C>ACA1557419ASXL2c.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
2g.25742521C=CA1239490512ASXL2c.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=)
2g.25742521C>GCA346075873ASXL2c.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)
2g.25742521C>TCA1557420ASXL2c.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

Number of alleles fetched