Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.33740509_33743845delinsAGAAGCCTAGGTGTACCA2740091793ASXL3c.3042+66_4000delinsAGAAGCCTAGGTGTAC
c.3039+66_3997delinsAGAAGCCTAGGTGTAC
c.2919+66_3877delinsAGAAGCCTAGGTGTAC
c.3015+66_3973delinsAGAAGCCTAGGTGTAC
c.2961+66_3919delinsAGAAGCCTAGGTGTAC
c.2922+66_3880delinsAGAAGCCTAGGTGTAC
c.2871+66_3829delinsAGAAGCCTAGGTGTAC
 ClinVar
18g.33743700C>ACA503770277ASXL3c.3855C>A (p.Thr1285=)
c.3852C>A (p.Thr1284=)
c.3732C>A (p.Thr1244=)
c.3828C>A (p.Thr1276=)
c.3774C>A (p.Thr1258=)
c.3735C>A (p.Thr1245=)
c.3684C>A (p.Thr1228=)
c.816C>A (p.Thr272=)
18g.33743700C=CA2294857810ASXL3c.3855C= (p.Thr1285=)
c.3852C= (p.Thr1284=)
c.3732C= (p.Thr1244=)
c.3828C= (p.Thr1276=)
c.3774C= (p.Thr1258=)
c.3735C= (p.Thr1245=)
c.3684C= (p.Thr1228=)
c.816C= (p.Thr272=)
18g.33743700C>GCA503770278ASXL3c.3855C>G (p.Thr1285=)
c.3852C>G (p.Thr1284=)
c.3732C>G (p.Thr1244=)
c.3828C>G (p.Thr1276=)
c.3774C>G (p.Thr1258=)
c.3735C>G (p.Thr1245=)
c.3684C>G (p.Thr1228=)
c.816C>G (p.Thr272=)
18g.33743700C>TCA503770280ASXL3c.3855C>T (p.Thr1285=)
c.3852C>T (p.Thr1284=)
c.3732C>T (p.Thr1244=)
c.3828C>T (p.Thr1276=)
c.3774C>T (p.Thr1258=)
c.3735C>T (p.Thr1245=)
c.3684C>T (p.Thr1228=)
c.816C>T (p.Thr272=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743701A=CA2294857811ASXL3c.3856A= (p.Ile1286=)
c.3853A= (p.Ile1285=)
c.3733A= (p.Ile1245=)
c.3829A= (p.Ile1277=)
c.3775A= (p.Ile1259=)
c.3736A= (p.Ile1246=)
c.3685A= (p.Ile1229=)
c.817A= (p.Ile273=)
18g.33743701A>CCA8934130ASXL3c.3856A>C (p.Ile1286Leu)
c.3853A>C (p.Ile1285Leu)
c.3733A>C (p.Ile1245Leu)
c.3829A>C (p.Ile1277Leu)
c.3775A>C (p.Ile1259Leu)
c.3736A>C (p.Ile1246Leu)
c.3685A>C (p.Ile1229Leu)
c.817A>C (p.Ile273Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743701A>GCA402186247ASXL3c.3856A>G (p.Ile1286Val)
c.3853A>G (p.Ile1285Val)
c.3733A>G (p.Ile1245Val)
c.3829A>G (p.Ile1277Val)
c.3775A>G (p.Ile1259Val)
c.3736A>G (p.Ile1246Val)
c.3685A>G (p.Ile1229Val)
c.817A>G (p.Ile273Val)
 gnomAD v4 COSMIC
18g.33743701A>TCA402186246ASXL3c.3856A>T (p.Ile1286Phe)
c.3853A>T (p.Ile1285Phe)
c.3733A>T (p.Ile1245Phe)
c.3829A>T (p.Ile1277Phe)
c.3775A>T (p.Ile1259Phe)
c.3736A>T (p.Ile1246Phe)
c.3685A>T (p.Ile1229Phe)
c.817A>T (p.Ile273Phe)
 gnomAD v4
18g.33743702T>ACA402188325ASXL3c.3857T>A (p.Ile1286Asn)
c.3854T>A (p.Ile1285Asn)
c.3734T>A (p.Ile1245Asn)
c.3830T>A (p.Ile1277Asn)
c.3776T>A (p.Ile1259Asn)
c.3737T>A (p.Ile1246Asn)
c.3686T>A (p.Ile1229Asn)
c.818T>A (p.Ile273Asn)
18g.33743702T>CCA402188321ASXL3c.3857T>C (p.Ile1286Thr)
c.3854T>C (p.Ile1285Thr)
c.3734T>C (p.Ile1245Thr)
c.3830T>C (p.Ile1277Thr)
c.3776T>C (p.Ile1259Thr)
c.3737T>C (p.Ile1246Thr)
c.3686T>C (p.Ile1229Thr)
c.818T>C (p.Ile273Thr)
 COSMIC
18g.33743702T>GCA402188328ASXL3c.3857T>G (p.Ile1286Ser)
c.3854T>G (p.Ile1285Ser)
c.3734T>G (p.Ile1245Ser)
c.3830T>G (p.Ile1277Ser)
c.3776T>G (p.Ile1259Ser)
c.3737T>G (p.Ile1246Ser)
c.3686T>G (p.Ile1229Ser)
c.818T>G (p.Ile273Ser)
18g.33743703C>ACA503769772ASXL3c.3858C>A (p.Ile1286=)
c.3855C>A (p.Ile1285=)
c.3735C>A (p.Ile1245=)
c.3831C>A (p.Ile1277=)
c.3777C>A (p.Ile1259=)
c.3738C>A (p.Ile1246=)
c.3687C>A (p.Ile1229=)
c.819C>A (p.Ile273=)
18g.33743703C>GCA402188331ASXL3c.3858C>G (p.Ile1286Met)
c.3855C>G (p.Ile1285Met)
c.3735C>G (p.Ile1245Met)
c.3831C>G (p.Ile1277Met)
c.3777C>G (p.Ile1259Met)
c.3738C>G (p.Ile1246Met)
c.3687C>G (p.Ile1229Met)
c.819C>G (p.Ile273Met)
18g.33743703C>TCA503769773ASXL3c.3858C>T (p.Ile1286=)
c.3855C>T (p.Ile1285=)
c.3735C>T (p.Ile1245=)
c.3831C>T (p.Ile1277=)
c.3777C>T (p.Ile1259=)
c.3738C>T (p.Ile1246=)
c.3687C>T (p.Ile1229=)
c.819C>T (p.Ile273=)
18g.33743704C>ACA402188342ASXL3c.3859C>A (p.Gln1287Lys)
c.3856C>A (p.Gln1286Lys)
c.3736C>A (p.Gln1246Lys)
c.3832C>A (p.Gln1278Lys)
c.3778C>A (p.Gln1260Lys)
c.3739C>A (p.Gln1247Lys)
c.3688C>A (p.Gln1230Lys)
c.820C>A (p.Gln274Lys)
18g.33743704C>GCA402188336ASXL3c.3859C>G (p.Gln1287Glu)
c.3856C>G (p.Gln1286Glu)
c.3736C>G (p.Gln1246Glu)
c.3832C>G (p.Gln1278Glu)
c.3778C>G (p.Gln1260Glu)
c.3739C>G (p.Gln1247Glu)
c.3688C>G (p.Gln1230Glu)
c.820C>G (p.Gln274Glu)
18g.33743704C>TCA402188339ASXL3c.3859C>T (p.Gln1287Ter)
c.3856C>T (p.Gln1286Ter)
c.3736C>T (p.Gln1246Ter)
c.3832C>T (p.Gln1278Ter)
c.3778C>T (p.Gln1260Ter)
c.3739C>T (p.Gln1247Ter)
c.3688C>T (p.Gln1230Ter)
c.820C>T (p.Gln274Ter)
 COSMIC
18g.33743705A=CA2294857812ASXL3c.3860A= (p.Gln1287=)
c.3857A= (p.Gln1286=)
c.3737A= (p.Gln1246=)
c.3833A= (p.Gln1278=)
c.3779A= (p.Gln1260=)
c.3740A= (p.Gln1247=)
c.3689A= (p.Gln1230=)
c.821A= (p.Gln274=)
18g.33743705A>CCA402188345ASXL3c.3860A>C (p.Gln1287Pro)
c.3857A>C (p.Gln1286Pro)
c.3737A>C (p.Gln1246Pro)
c.3833A>C (p.Gln1278Pro)
c.3779A>C (p.Gln1260Pro)
c.3740A>C (p.Gln1247Pro)
c.3689A>C (p.Gln1230Pro)
c.821A>C (p.Gln274Pro)
 dbSNP gnomAD v2 gnomAD v4
18g.33743705A>GCA402188348ASXL3c.3860A>G (p.Gln1287Arg)
c.3857A>G (p.Gln1286Arg)
c.3737A>G (p.Gln1246Arg)
c.3833A>G (p.Gln1278Arg)
c.3779A>G (p.Gln1260Arg)
c.3740A>G (p.Gln1247Arg)
c.3689A>G (p.Gln1230Arg)
c.821A>G (p.Gln274Arg)
 dbSNP gnomAD v4
18g.33743705A>TCA402188350ASXL3c.3860A>T (p.Gln1287Leu)
c.3857A>T (p.Gln1286Leu)
c.3737A>T (p.Gln1246Leu)
c.3833A>T (p.Gln1278Leu)
c.3779A>T (p.Gln1260Leu)
c.3740A>T (p.Gln1247Leu)
c.3689A>T (p.Gln1230Leu)
c.821A>T (p.Gln274Leu)
18g.33743706G>ACA503769784ASXL3c.3861G>A (p.Gln1287=)
c.3858G>A (p.Gln1286=)
c.3738G>A (p.Gln1246=)
c.3834G>A (p.Gln1278=)
c.3780G>A (p.Gln1260=)
c.3741G>A (p.Gln1247=)
c.3690G>A (p.Gln1230=)
c.822G>A (p.Gln274=)
18g.33743706G>CCA402188353ASXL3c.3861G>C (p.Gln1287His)
c.3858G>C (p.Gln1286His)
c.3738G>C (p.Gln1246His)
c.3834G>C (p.Gln1278His)
c.3780G>C (p.Gln1260His)
c.3741G>C (p.Gln1247His)
c.3690G>C (p.Gln1230His)
c.822G>C (p.Gln274His)
 COSMIC
18g.33743706G>TCA402188355ASXL3c.3861G>T (p.Gln1287His)
c.3858G>T (p.Gln1286His)
c.3738G>T (p.Gln1246His)
c.3834G>T (p.Gln1278His)
c.3780G>T (p.Gln1260His)
c.3741G>T (p.Gln1247His)
c.3690G>T (p.Gln1230His)
c.822G>T (p.Gln274His)
 COSMIC
18g.33743707G>ACA402188365ASXL3c.3862G>A (p.Gly1288Arg)
c.3859G>A (p.Gly1287Arg)
c.3739G>A (p.Gly1247Arg)
c.3835G>A (p.Gly1279Arg)
c.3781G>A (p.Gly1261Arg)
c.3742G>A (p.Gly1248Arg)
c.3691G>A (p.Gly1231Arg)
c.823G>A (p.Gly275Arg)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
18g.33743707G>CCA402188366ASXL3c.3862G>C (p.Gly1288Arg)
c.3859G>C (p.Gly1287Arg)
c.3739G>C (p.Gly1247Arg)
c.3835G>C (p.Gly1279Arg)
c.3781G>C (p.Gly1261Arg)
c.3742G>C (p.Gly1248Arg)
c.3691G>C (p.Gly1231Arg)
c.823G>C (p.Gly275Arg)
18g.33743707G=CA2294857813ASXL3c.3862G= (p.Gly1288=)
c.3859G= (p.Gly1287=)
c.3739G= (p.Gly1247=)
c.3835G= (p.Gly1279=)
c.3781G= (p.Gly1261=)
c.3742G= (p.Gly1248=)
c.3691G= (p.Gly1231=)
c.823G= (p.Gly275=)
18g.33743707G>TCA402188369ASXL3c.3862G>T (p.Gly1288Ter)
c.3859G>T (p.Gly1287Ter)
c.3739G>T (p.Gly1247Ter)
c.3835G>T (p.Gly1279Ter)
c.3781G>T (p.Gly1261Ter)
c.3742G>T (p.Gly1248Ter)
c.3691G>T (p.Gly1231Ter)
c.823G>T (p.Gly275Ter)
18g.33743708G>ACA402188373ASXL3c.3863G>A (p.Gly1288Glu)
c.3860G>A (p.Gly1287Glu)
c.3740G>A (p.Gly1247Glu)
c.3836G>A (p.Gly1279Glu)
c.3782G>A (p.Gly1261Glu)
c.3743G>A (p.Gly1248Glu)
c.3692G>A (p.Gly1231Glu)
c.824G>A (p.Gly275Glu)
18g.33743708G>CCA402188375ASXL3c.3863G>C (p.Gly1288Ala)
c.3860G>C (p.Gly1287Ala)
c.3740G>C (p.Gly1247Ala)
c.3836G>C (p.Gly1279Ala)
c.3782G>C (p.Gly1261Ala)
c.3743G>C (p.Gly1248Ala)
c.3692G>C (p.Gly1231Ala)
c.824G>C (p.Gly275Ala)
 gnomAD v4
18g.33743708G>TCA402188379ASXL3c.3863G>T (p.Gly1288Val)
c.3860G>T (p.Gly1287Val)
c.3740G>T (p.Gly1247Val)
c.3836G>T (p.Gly1279Val)
c.3782G>T (p.Gly1261Val)
c.3743G>T (p.Gly1248Val)
c.3692G>T (p.Gly1231Val)
c.824G>T (p.Gly275Val)
18g.33743709A=CA2294857814ASXL3c.3864A= (p.Gly1288=)
c.3861A= (p.Gly1287=)
c.3741A= (p.Gly1247=)
c.3837A= (p.Gly1279=)
c.3783A= (p.Gly1261=)
c.3744A= (p.Gly1248=)
c.3693A= (p.Gly1231=)
c.825A= (p.Gly275=)
18g.33743709A>CCA503769790ASXL3c.3864A>C (p.Gly1288=)
c.3861A>C (p.Gly1287=)
c.3741A>C (p.Gly1247=)
c.3837A>C (p.Gly1279=)
c.3783A>C (p.Gly1261=)
c.3744A>C (p.Gly1248=)
c.3693A>C (p.Gly1231=)
c.825A>C (p.Gly275=)
18g.33743709A>GCA503769791ASXL3c.3864A>G (p.Gly1288=)
c.3861A>G (p.Gly1287=)
c.3741A>G (p.Gly1247=)
c.3837A>G (p.Gly1279=)
c.3783A>G (p.Gly1261=)
c.3744A>G (p.Gly1248=)
c.3693A>G (p.Gly1231=)
c.825A>G (p.Gly275=)
 gnomAD v4
18g.33743709A>TCA8934131ASXL3c.3864A>T (p.Gly1288=)
c.3861A>T (p.Gly1287=)
c.3741A>T (p.Gly1247=)
c.3837A>T (p.Gly1279=)
c.3783A>T (p.Gly1261=)
c.3744A>T (p.Gly1248=)
c.3693A>T (p.Gly1231=)
c.825A>T (p.Gly275=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743710A=CA2294857815ASXL3c.3865A= (p.Thr1289=)
c.3862A= (p.Thr1288=)
c.3742A= (p.Thr1248=)
c.3838A= (p.Thr1280=)
c.3784A= (p.Thr1262=)
c.3745A= (p.Thr1249=)
c.3694A= (p.Thr1232=)
c.826A= (p.Thr276=)
18g.33743710A>CCA402188387ASXL3c.3865A>C (p.Thr1289Pro)
c.3862A>C (p.Thr1288Pro)
c.3742A>C (p.Thr1248Pro)
c.3838A>C (p.Thr1280Pro)
c.3784A>C (p.Thr1262Pro)
c.3745A>C (p.Thr1249Pro)
c.3694A>C (p.Thr1232Pro)
c.826A>C (p.Thr276Pro)
18g.33743710A>GCA402188390ASXL3c.3865A>G (p.Thr1289Ala)
c.3862A>G (p.Thr1288Ala)
c.3742A>G (p.Thr1248Ala)
c.3838A>G (p.Thr1280Ala)
c.3784A>G (p.Thr1262Ala)
c.3745A>G (p.Thr1249Ala)
c.3694A>G (p.Thr1232Ala)
c.826A>G (p.Thr276Ala)
18g.33743710A>TCA402188393ASXL3c.3865A>T (p.Thr1289Ser)
c.3862A>T (p.Thr1288Ser)
c.3742A>T (p.Thr1248Ser)
c.3838A>T (p.Thr1280Ser)
c.3784A>T (p.Thr1262Ser)
c.3745A>T (p.Thr1249Ser)
c.3694A>T (p.Thr1232Ser)
c.826A>T (p.Thr276Ser)
18g.33743711C>ACA402188401ASXL3c.3866C>A (p.Thr1289Asn)
c.3863C>A (p.Thr1288Asn)
c.3743C>A (p.Thr1248Asn)
c.3839C>A (p.Thr1280Asn)
c.3785C>A (p.Thr1262Asn)
c.3746C>A (p.Thr1249Asn)
c.3695C>A (p.Thr1232Asn)
c.827C>A (p.Thr276Asn)
 gnomAD v4
18g.33743711C>GCA402188404ASXL3c.3866C>G (p.Thr1289Ser)
c.3863C>G (p.Thr1288Ser)
c.3743C>G (p.Thr1248Ser)
c.3839C>G (p.Thr1280Ser)
c.3785C>G (p.Thr1262Ser)
c.3746C>G (p.Thr1249Ser)
c.3695C>G (p.Thr1232Ser)
c.827C>G (p.Thr276Ser)
18g.33743711C>TCA402188408ASXL3c.3866C>T (p.Thr1289Ile)
c.3863C>T (p.Thr1288Ile)
c.3743C>T (p.Thr1248Ile)
c.3839C>T (p.Thr1280Ile)
c.3785C>T (p.Thr1262Ile)
c.3746C>T (p.Thr1249Ile)
c.3695C>T (p.Thr1232Ile)
c.827C>T (p.Thr276Ile)
18g.33743711dupCA297793209ASXL3c.3866dup (p.Asp1290Ter)
c.3863dup (p.Asp1289Ter)
c.3743dup (p.Asp1249Ter)
c.3839dup (p.Asp1281Ter)
c.3785dup (p.Asp1263Ter)
c.3746dup (p.Asp1250Ter)
c.3695dup (p.Asp1233Ter)
c.827dup (p.Asp277Ter)
 dbSNP
18g.33743712T>ACA503769805ASXL3c.3867T>A (p.Thr1289=)
c.3864T>A (p.Thr1288=)
c.3744T>A (p.Thr1248=)
c.3840T>A (p.Thr1280=)
c.3786T>A (p.Thr1262=)
c.3747T>A (p.Thr1249=)
c.3696T>A (p.Thr1232=)
c.828T>A (p.Thr276=)
18g.33743712T>CCA503769802ASXL3c.3867T>C (p.Thr1289=)
c.3864T>C (p.Thr1288=)
c.3744T>C (p.Thr1248=)
c.3840T>C (p.Thr1280=)
c.3786T>C (p.Thr1262=)
c.3747T>C (p.Thr1249=)
c.3696T>C (p.Thr1232=)
c.828T>C (p.Thr276=)
18g.33743712T>GCA503769804ASXL3c.3867T>G (p.Thr1289=)
c.3864T>G (p.Thr1288=)
c.3744T>G (p.Thr1248=)
c.3840T>G (p.Thr1280=)
c.3786T>G (p.Thr1262=)
c.3747T>G (p.Thr1249=)
c.3696T>G (p.Thr1232=)
c.828T>G (p.Thr276=)
18g.33743713G>ACA402188411ASXL3c.3868G>A (p.Asp1290Asn)
c.3865G>A (p.Asp1289Asn)
c.3745G>A (p.Asp1249Asn)
c.3841G>A (p.Asp1281Asn)
c.3787G>A (p.Asp1263Asn)
c.3748G>A (p.Asp1250Asn)
c.3697G>A (p.Asp1233Asn)
c.829G>A (p.Asp277Asn)
 gnomAD v4
18g.33743713G>CCA402188413ASXL3c.3868G>C (p.Asp1290His)
c.3865G>C (p.Asp1289His)
c.3745G>C (p.Asp1249His)
c.3841G>C (p.Asp1281His)
c.3787G>C (p.Asp1263His)
c.3748G>C (p.Asp1250His)
c.3697G>C (p.Asp1233His)
c.829G>C (p.Asp277His)
18g.33743713G>TCA402188416ASXL3c.3868G>T (p.Asp1290Tyr)
c.3865G>T (p.Asp1289Tyr)
c.3745G>T (p.Asp1249Tyr)
c.3841G>T (p.Asp1281Tyr)
c.3787G>T (p.Asp1263Tyr)
c.3748G>T (p.Asp1250Tyr)
c.3697G>T (p.Asp1233Tyr)
c.829G>T (p.Asp277Tyr)
18g.33743714A>CCA402188420ASXL3c.3869A>C (p.Asp1290Ala)
c.3866A>C (p.Asp1289Ala)
c.3746A>C (p.Asp1249Ala)
c.3842A>C (p.Asp1281Ala)
c.3788A>C (p.Asp1263Ala)
c.3749A>C (p.Asp1250Ala)
c.3698A>C (p.Asp1233Ala)
c.830A>C (p.Asp277Ala)
18g.33743714A>GCA402188423ASXL3c.3869A>G (p.Asp1290Gly)
c.3866A>G (p.Asp1289Gly)
c.3746A>G (p.Asp1249Gly)
c.3842A>G (p.Asp1281Gly)
c.3788A>G (p.Asp1263Gly)
c.3749A>G (p.Asp1250Gly)
c.3698A>G (p.Asp1233Gly)
c.830A>G (p.Asp277Gly)
 gnomAD v4
18g.33743714A>TCA402188425ASXL3c.3869A>T (p.Asp1290Val)
c.3866A>T (p.Asp1289Val)
c.3746A>T (p.Asp1249Val)
c.3842A>T (p.Asp1281Val)
c.3788A>T (p.Asp1263Val)
c.3749A>T (p.Asp1250Val)
c.3698A>T (p.Asp1233Val)
c.830A>T (p.Asp277Val)
18g.33743715C>ACA402188430ASXL3c.3870C>A (p.Asp1290Glu)
c.3867C>A (p.Asp1289Glu)
c.3747C>A (p.Asp1249Glu)
c.3843C>A (p.Asp1281Glu)
c.3789C>A (p.Asp1263Glu)
c.3750C>A (p.Asp1250Glu)
c.3699C>A (p.Asp1233Glu)
c.831C>A (p.Asp277Glu)
18g.33743715C>GCA402188432ASXL3c.3870C>G (p.Asp1290Glu)
c.3867C>G (p.Asp1289Glu)
c.3747C>G (p.Asp1249Glu)
c.3843C>G (p.Asp1281Glu)
c.3789C>G (p.Asp1263Glu)
c.3750C>G (p.Asp1250Glu)
c.3699C>G (p.Asp1233Glu)
c.831C>G (p.Asp277Glu)
18g.33743715C>TCA503769811ASXL3c.3870C>T (p.Asp1290=)
c.3867C>T (p.Asp1289=)
c.3747C>T (p.Asp1249=)
c.3843C>T (p.Asp1281=)
c.3789C>T (p.Asp1263=)
c.3750C>T (p.Asp1250=)
c.3699C>T (p.Asp1233=)
c.831C>T (p.Asp277=)
18g.33743716A>CCA402188436ASXL3c.3871A>C (p.Thr1291Pro)
c.3868A>C (p.Thr1290Pro)
c.3748A>C (p.Thr1250Pro)
c.3844A>C (p.Thr1282Pro)
c.3790A>C (p.Thr1264Pro)
c.3751A>C (p.Thr1251Pro)
c.3700A>C (p.Thr1234Pro)
c.832A>C (p.Thr278Pro)
18g.33743716A>GCA402188439ASXL3c.3871A>G (p.Thr1291Ala)
c.3868A>G (p.Thr1290Ala)
c.3748A>G (p.Thr1250Ala)
c.3844A>G (p.Thr1282Ala)
c.3790A>G (p.Thr1264Ala)
c.3751A>G (p.Thr1251Ala)
c.3700A>G (p.Thr1234Ala)
c.832A>G (p.Thr278Ala)
18g.33743716A>TCA402188442ASXL3c.3871A>T (p.Thr1291Ser)
c.3868A>T (p.Thr1290Ser)
c.3748A>T (p.Thr1250Ser)
c.3844A>T (p.Thr1282Ser)
c.3790A>T (p.Thr1264Ser)
c.3751A>T (p.Thr1251Ser)
c.3700A>T (p.Thr1234Ser)
c.832A>T (p.Thr278Ser)
18g.33743717C>ACA402188445ASXL3c.3872C>A (p.Thr1291Asn)
c.3869C>A (p.Thr1290Asn)
c.3749C>A (p.Thr1250Asn)
c.3845C>A (p.Thr1282Asn)
c.3791C>A (p.Thr1264Asn)
c.3752C>A (p.Thr1251Asn)
c.3701C>A (p.Thr1234Asn)
c.833C>A (p.Thr278Asn)
 gnomAD v4
18g.33743717C=CA2294857816ASXL3c.3872C= (p.Thr1291=)
c.3869C= (p.Thr1290=)
c.3749C= (p.Thr1250=)
c.3845C= (p.Thr1282=)
c.3791C= (p.Thr1264=)
c.3752C= (p.Thr1251=)
c.3701C= (p.Thr1234=)
c.833C= (p.Thr278=)
18g.33743717C>GCA402188446ASXL3c.3872C>G (p.Thr1291Ser)
c.3869C>G (p.Thr1290Ser)
c.3749C>G (p.Thr1250Ser)
c.3845C>G (p.Thr1282Ser)
c.3791C>G (p.Thr1264Ser)
c.3752C>G (p.Thr1251Ser)
c.3701C>G (p.Thr1234Ser)
c.833C>G (p.Thr278Ser)
18g.33743717C>TCA8934132ASXL3c.3872C>T (p.Thr1291Ile)
c.3869C>T (p.Thr1290Ile)
c.3749C>T (p.Thr1250Ile)
c.3845C>T (p.Thr1282Ile)
c.3791C>T (p.Thr1264Ile)
c.3752C>T (p.Thr1251Ile)
c.3701C>T (p.Thr1234Ile)
c.833C>T (p.Thr278Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743718T>ACA503769814ASXL3c.3873T>A (p.Thr1291=)
c.3870T>A (p.Thr1290=)
c.3750T>A (p.Thr1250=)
c.3846T>A (p.Thr1282=)
c.3792T>A (p.Thr1264=)
c.3753T>A (p.Thr1251=)
c.3702T>A (p.Thr1234=)
c.834T>A (p.Thr278=)
18g.33743718T>CCA503769815ASXL3c.3873T>C (p.Thr1291=)
c.3870T>C (p.Thr1290=)
c.3750T>C (p.Thr1250=)
c.3846T>C (p.Thr1282=)
c.3792T>C (p.Thr1264=)
c.3753T>C (p.Thr1251=)
c.3702T>C (p.Thr1234=)
c.834T>C (p.Thr278=)
18g.33743718T>GCA503769816ASXL3c.3873T>G (p.Thr1291=)
c.3870T>G (p.Thr1290=)
c.3750T>G (p.Thr1250=)
c.3846T>G (p.Thr1282=)
c.3792T>G (p.Thr1264=)
c.3753T>G (p.Thr1251=)
c.3702T>G (p.Thr1234=)
c.834T>G (p.Thr278=)
18g.33743719C>ACA402188452ASXL3c.3874C>A (p.Pro1292Thr)
c.3871C>A (p.Pro1291Thr)
c.3751C>A (p.Pro1251Thr)
c.3847C>A (p.Pro1283Thr)
c.3793C>A (p.Pro1265Thr)
c.3754C>A (p.Pro1252Thr)
c.3703C>A (p.Pro1235Thr)
c.835C>A (p.Pro279Thr)
18g.33743719C>GCA402188454ASXL3c.3874C>G (p.Pro1292Ala)
c.3871C>G (p.Pro1291Ala)
c.3751C>G (p.Pro1251Ala)
c.3847C>G (p.Pro1283Ala)
c.3793C>G (p.Pro1265Ala)
c.3754C>G (p.Pro1252Ala)
c.3703C>G (p.Pro1235Ala)
c.835C>G (p.Pro279Ala)
 gnomAD v4
18g.33743719C>TCA402188457ASXL3c.3874C>T (p.Pro1292Ser)
c.3871C>T (p.Pro1291Ser)
c.3751C>T (p.Pro1251Ser)
c.3847C>T (p.Pro1283Ser)
c.3793C>T (p.Pro1265Ser)
c.3754C>T (p.Pro1252Ser)
c.3703C>T (p.Pro1235Ser)
c.835C>T (p.Pro279Ser)
18g.33743720C>ACA402188462ASXL3c.3875C>A (p.Pro1292Gln)
c.3872C>A (p.Pro1291Gln)
c.3752C>A (p.Pro1251Gln)
c.3848C>A (p.Pro1283Gln)
c.3794C>A (p.Pro1265Gln)
c.3755C>A (p.Pro1252Gln)
c.3704C>A (p.Pro1235Gln)
c.836C>A (p.Pro279Gln)
18g.33743720C>GCA402188465ASXL3c.3875C>G (p.Pro1292Arg)
c.3872C>G (p.Pro1291Arg)
c.3752C>G (p.Pro1251Arg)
c.3848C>G (p.Pro1283Arg)
c.3794C>G (p.Pro1265Arg)
c.3755C>G (p.Pro1252Arg)
c.3704C>G (p.Pro1235Arg)
c.836C>G (p.Pro279Arg)
18g.33743720C>TCA402188467ASXL3c.3875C>T (p.Pro1292Leu)
c.3872C>T (p.Pro1291Leu)
c.3752C>T (p.Pro1251Leu)
c.3848C>T (p.Pro1283Leu)
c.3794C>T (p.Pro1265Leu)
c.3755C>T (p.Pro1252Leu)
c.3704C>T (p.Pro1235Leu)
c.836C>T (p.Pro279Leu)
 dbSNP gnomAD v3 gnomAD v4
18g.33743721A=CA2294857817ASXL3c.3876A= (p.Pro1292=)
c.3873A= (p.Pro1291=)
c.3753A= (p.Pro1251=)
c.3849A= (p.Pro1283=)
c.3795A= (p.Pro1265=)
c.3756A= (p.Pro1252=)
c.3705A= (p.Pro1235=)
c.837A= (p.Pro279=)
18g.33743721A>CCA503769822ASXL3c.3876A>C (p.Pro1292=)
c.3873A>C (p.Pro1291=)
c.3753A>C (p.Pro1251=)
c.3849A>C (p.Pro1283=)
c.3795A>C (p.Pro1265=)
c.3756A>C (p.Pro1252=)
c.3705A>C (p.Pro1235=)
c.837A>C (p.Pro279=)
18g.33743721A>GCA503769823ASXL3c.3876A>G (p.Pro1292=)
c.3873A>G (p.Pro1291=)
c.3753A>G (p.Pro1251=)
c.3849A>G (p.Pro1283=)
c.3795A>G (p.Pro1265=)
c.3756A>G (p.Pro1252=)
c.3705A>G (p.Pro1235=)
c.837A>G (p.Pro279=)
 dbSNP gnomAD v3 gnomAD v4
18g.33743721A>TCA503769824ASXL3c.3876A>T (p.Pro1292=)
c.3873A>T (p.Pro1291=)
c.3753A>T (p.Pro1251=)
c.3849A>T (p.Pro1283=)
c.3795A>T (p.Pro1265=)
c.3756A>T (p.Pro1252=)
c.3705A>T (p.Pro1235=)
c.837A>T (p.Pro279=)
18g.33743722T>ACA402188476ASXL3c.3877T>A (p.Cys1293Ser)
c.3874T>A (p.Cys1292Ser)
c.3754T>A (p.Cys1252Ser)
c.3850T>A (p.Cys1284Ser)
c.3796T>A (p.Cys1266Ser)
c.3757T>A (p.Cys1253Ser)
c.3706T>A (p.Cys1236Ser)
c.838T>A (p.Cys280Ser)
18g.33743722T>CCA402188470ASXL3c.3877T>C (p.Cys1293Arg)
c.3874T>C (p.Cys1292Arg)
c.3754T>C (p.Cys1252Arg)
c.3850T>C (p.Cys1284Arg)
c.3796T>C (p.Cys1266Arg)
c.3757T>C (p.Cys1253Arg)
c.3706T>C (p.Cys1236Arg)
c.838T>C (p.Cys280Arg)
18g.33743722T>GCA402188473ASXL3c.3877T>G (p.Cys1293Gly)
c.3874T>G (p.Cys1292Gly)
c.3754T>G (p.Cys1252Gly)
c.3850T>G (p.Cys1284Gly)
c.3796T>G (p.Cys1266Gly)
c.3757T>G (p.Cys1253Gly)
c.3706T>G (p.Cys1236Gly)
c.838T>G (p.Cys280Gly)
18g.33743723G>ACA8934133ASXL3c.3878G>A (p.Cys1293Tyr)
c.3875G>A (p.Cys1292Tyr)
c.3755G>A (p.Cys1252Tyr)
c.3851G>A (p.Cys1284Tyr)
c.3797G>A (p.Cys1266Tyr)
c.3758G>A (p.Cys1253Tyr)
c.3707G>A (p.Cys1236Tyr)
c.839G>A (p.Cys280Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743723G>CCA402188484ASXL3c.3878G>C (p.Cys1293Ser)
c.3875G>C (p.Cys1292Ser)
c.3755G>C (p.Cys1252Ser)
c.3851G>C (p.Cys1284Ser)
c.3797G>C (p.Cys1266Ser)
c.3758G>C (p.Cys1253Ser)
c.3707G>C (p.Cys1236Ser)
c.839G>C (p.Cys280Ser)
18g.33743723G=CA2294857818ASXL3c.3878G= (p.Cys1293=)
c.3875G= (p.Cys1292=)
c.3755G= (p.Cys1252=)
c.3851G= (p.Cys1284=)
c.3797G= (p.Cys1266=)
c.3758G= (p.Cys1253=)
c.3707G= (p.Cys1236=)
c.839G= (p.Cys280=)
18g.33743723G>TCA402188487ASXL3c.3878G>T (p.Cys1293Phe)
c.3875G>T (p.Cys1292Phe)
c.3755G>T (p.Cys1252Phe)
c.3851G>T (p.Cys1284Phe)
c.3797G>T (p.Cys1266Phe)
c.3758G>T (p.Cys1253Phe)
c.3707G>T (p.Cys1236Phe)
c.839G>T (p.Cys280Phe)
 gnomAD v4
18g.33743724C>ACA402188491ASXL3c.3879C>A (p.Cys1293Ter)
c.3876C>A (p.Cys1292Ter)
c.3756C>A (p.Cys1252Ter)
c.3852C>A (p.Cys1284Ter)
c.3798C>A (p.Cys1266Ter)
c.3759C>A (p.Cys1253Ter)
c.3708C>A (p.Cys1236Ter)
c.840C>A (p.Cys280Ter)
18g.33743724C>GCA402188495ASXL3c.3879C>G (p.Cys1293Trp)
c.3876C>G (p.Cys1292Trp)
c.3756C>G (p.Cys1252Trp)
c.3852C>G (p.Cys1284Trp)
c.3798C>G (p.Cys1266Trp)
c.3759C>G (p.Cys1253Trp)
c.3708C>G (p.Cys1236Trp)
c.840C>G (p.Cys280Trp)
18g.33743724C>TCA503769828ASXL3c.3879C>T (p.Cys1293=)
c.3876C>T (p.Cys1292=)
c.3756C>T (p.Cys1252=)
c.3852C>T (p.Cys1284=)
c.3798C>T (p.Cys1266=)
c.3759C>T (p.Cys1253=)
c.3708C>T (p.Cys1236=)
c.840C>T (p.Cys280=)
18g.33743725A=CA2294857819ASXL3c.3880A= (p.Ile1294=)
c.3877A= (p.Ile1293=)
c.3757A= (p.Ile1253=)
c.3853A= (p.Ile1285=)
c.3799A= (p.Ile1267=)
c.3760A= (p.Ile1254=)
c.3709A= (p.Ile1237=)
c.841A= (p.Ile281=)
18g.33743725A>CCA402188499ASXL3c.3880A>C (p.Ile1294Leu)
c.3877A>C (p.Ile1293Leu)
c.3757A>C (p.Ile1253Leu)
c.3853A>C (p.Ile1285Leu)
c.3799A>C (p.Ile1267Leu)
c.3760A>C (p.Ile1254Leu)
c.3709A>C (p.Ile1237Leu)
c.841A>C (p.Ile281Leu)
 gnomAD v4
18g.33743725A>GCA402188502ASXL3c.3880A>G (p.Ile1294Val)
c.3877A>G (p.Ile1293Val)
c.3757A>G (p.Ile1253Val)
c.3853A>G (p.Ile1285Val)
c.3799A>G (p.Ile1267Val)
c.3760A>G (p.Ile1254Val)
c.3709A>G (p.Ile1237Val)
c.841A>G (p.Ile281Val)
 dbSNP gnomAD v2 gnomAD v4
18g.33743725A>TCA402188504ASXL3c.3880A>T (p.Ile1294Leu)
c.3877A>T (p.Ile1293Leu)
c.3757A>T (p.Ile1253Leu)
c.3853A>T (p.Ile1285Leu)
c.3799A>T (p.Ile1267Leu)
c.3760A>T (p.Ile1254Leu)
c.3709A>T (p.Ile1237Leu)
c.841A>T (p.Ile281Leu)
18g.33743726T>ACA402188506ASXL3c.3881T>A (p.Ile1294Lys)
c.3878T>A (p.Ile1293Lys)
c.3758T>A (p.Ile1253Lys)
c.3854T>A (p.Ile1285Lys)
c.3800T>A (p.Ile1267Lys)
c.3761T>A (p.Ile1254Lys)
c.3710T>A (p.Ile1237Lys)
c.842T>A (p.Ile281Lys)
18g.33743726T>CCA402188507ASXL3c.3881T>C (p.Ile1294Thr)
c.3878T>C (p.Ile1293Thr)
c.3758T>C (p.Ile1253Thr)
c.3854T>C (p.Ile1285Thr)
c.3800T>C (p.Ile1267Thr)
c.3761T>C (p.Ile1254Thr)
c.3710T>C (p.Ile1237Thr)
c.842T>C (p.Ile281Thr)
18g.33743726T>GCA402188508ASXL3c.3881T>G (p.Ile1294Arg)
c.3878T>G (p.Ile1293Arg)
c.3758T>G (p.Ile1253Arg)
c.3854T>G (p.Ile1285Arg)
c.3800T>G (p.Ile1267Arg)
c.3761T>G (p.Ile1254Arg)
c.3710T>G (p.Ile1237Arg)
c.842T>G (p.Ile281Arg)
18g.33743727A>CCA503769835ASXL3c.3882A>C (p.Ile1294=)
c.3879A>C (p.Ile1293=)
c.3759A>C (p.Ile1253=)
c.3855A>C (p.Ile1285=)
c.3801A>C (p.Ile1267=)
c.3762A>C (p.Ile1254=)
c.3711A>C (p.Ile1237=)
c.843A>C (p.Ile281=)
18g.33743727A>GCA402188510ASXL3c.3882A>G (p.Ile1294Met)
c.3879A>G (p.Ile1293Met)
c.3759A>G (p.Ile1253Met)
c.3855A>G (p.Ile1285Met)
c.3801A>G (p.Ile1267Met)
c.3762A>G (p.Ile1254Met)
c.3711A>G (p.Ile1237Met)
c.843A>G (p.Ile281Met)
18g.33743727A>TCA503769838ASXL3c.3882A>T (p.Ile1294=)
c.3879A>T (p.Ile1293=)
c.3759A>T (p.Ile1253=)
c.3855A>T (p.Ile1285=)
c.3801A>T (p.Ile1267=)
c.3762A>T (p.Ile1254=)
c.3711A>T (p.Ile1237=)
c.843A>T (p.Ile281=)
18g.33743728G>ACA402188516ASXL3c.3883G>A (p.Ala1295Thr)
c.3880G>A (p.Ala1294Thr)
c.3760G>A (p.Ala1254Thr)
c.3856G>A (p.Ala1286Thr)
c.3802G>A (p.Ala1268Thr)
c.3763G>A (p.Ala1255Thr)
c.3712G>A (p.Ala1238Thr)
c.844G>A (p.Ala282Thr)
 dbSNP
18g.33743728G>CCA402188519ASXL3c.3883G>C (p.Ala1295Pro)
c.3880G>C (p.Ala1294Pro)
c.3760G>C (p.Ala1254Pro)
c.3856G>C (p.Ala1286Pro)
c.3802G>C (p.Ala1268Pro)
c.3763G>C (p.Ala1255Pro)
c.3712G>C (p.Ala1238Pro)
c.844G>C (p.Ala282Pro)
 COSMIC
18g.33743728G=CA2294857820ASXL3c.3883G= (p.Ala1295=)
c.3880G= (p.Ala1294=)
c.3760G= (p.Ala1254=)
c.3856G= (p.Ala1286=)
c.3802G= (p.Ala1268=)
c.3763G= (p.Ala1255=)
c.3712G= (p.Ala1238=)
c.844G= (p.Ala282=)
18g.33743728G>TCA402188513ASXL3c.3883G>T (p.Ala1295Ser)
c.3880G>T (p.Ala1294Ser)
c.3760G>T (p.Ala1254Ser)
c.3856G>T (p.Ala1286Ser)
c.3802G>T (p.Ala1268Ser)
c.3763G>T (p.Ala1255Ser)
c.3712G>T (p.Ala1238Ser)
c.844G>T (p.Ala282Ser)
18g.33743729C>ACA402188528ASXL3c.3884C>A (p.Ala1295Asp)
c.3881C>A (p.Ala1294Asp)
c.3761C>A (p.Ala1254Asp)
c.3857C>A (p.Ala1286Asp)
c.3803C>A (p.Ala1268Asp)
c.3764C>A (p.Ala1255Asp)
c.3713C>A (p.Ala1238Asp)
c.845C>A (p.Ala282Asp)
18g.33743729C=CA2294857821ASXL3c.3884C= (p.Ala1295=)
c.3881C= (p.Ala1294=)
c.3761C= (p.Ala1254=)
c.3857C= (p.Ala1286=)
c.3803C= (p.Ala1268=)
c.3764C= (p.Ala1255=)
c.3713C= (p.Ala1238=)
c.845C= (p.Ala282=)
18g.33743729C>GCA402188523ASXL3c.3884C>G (p.Ala1295Gly)
c.3881C>G (p.Ala1294Gly)
c.3761C>G (p.Ala1254Gly)
c.3857C>G (p.Ala1286Gly)
c.3803C>G (p.Ala1268Gly)
c.3764C>G (p.Ala1255Gly)
c.3713C>G (p.Ala1238Gly)
c.845C>G (p.Ala282Gly)
18g.33743729C>TCA402188526ASXL3c.3884C>T (p.Ala1295Val)
c.3881C>T (p.Ala1294Val)
c.3761C>T (p.Ala1254Val)
c.3857C>T (p.Ala1286Val)
c.3803C>T (p.Ala1268Val)
c.3764C>T (p.Ala1255Val)
c.3713C>T (p.Ala1238Val)
c.845C>T (p.Ala282Val)
 dbSNP gnomAD v2 gnomAD v4
18g.33743730C>ACA503769846ASXL3c.3885C>A (p.Ala1295=)
c.3882C>A (p.Ala1294=)
c.3762C>A (p.Ala1254=)
c.3858C>A (p.Ala1286=)
c.3804C>A (p.Ala1268=)
c.3765C>A (p.Ala1255=)
c.3714C>A (p.Ala1238=)
c.846C>A (p.Ala282=)
18g.33743730C>GCA503769847ASXL3c.3885C>G (p.Ala1295=)
c.3882C>G (p.Ala1294=)
c.3762C>G (p.Ala1254=)
c.3858C>G (p.Ala1286=)
c.3804C>G (p.Ala1268=)
c.3765C>G (p.Ala1255=)
c.3714C>G (p.Ala1238=)
c.846C>G (p.Ala282=)
18g.33743730C>TCA503769848ASXL3c.3885C>T (p.Ala1295=)
c.3882C>T (p.Ala1294=)
c.3762C>T (p.Ala1254=)
c.3858C>T (p.Ala1286=)
c.3804C>T (p.Ala1268=)
c.3765C>T (p.Ala1255=)
c.3714C>T (p.Ala1238=)
c.846C>T (p.Ala282=)
18g.33743731A>CCA402188531ASXL3c.3886A>C (p.Ile1296Leu)
c.3883A>C (p.Ile1295Leu)
c.3763A>C (p.Ile1255Leu)
c.3859A>C (p.Ile1287Leu)
c.3805A>C (p.Ile1269Leu)
c.3766A>C (p.Ile1256Leu)
c.3715A>C (p.Ile1239Leu)
c.847A>C (p.Ile283Leu)
18g.33743731A>GCA402188533ASXL3c.3886A>G (p.Ile1296Val)
c.3883A>G (p.Ile1295Val)
c.3763A>G (p.Ile1255Val)
c.3859A>G (p.Ile1287Val)
c.3805A>G (p.Ile1269Val)
c.3766A>G (p.Ile1256Val)
c.3715A>G (p.Ile1239Val)
c.847A>G (p.Ile283Val)
18g.33743731A>TCA402188537ASXL3c.3886A>T (p.Ile1296Phe)
c.3883A>T (p.Ile1295Phe)
c.3763A>T (p.Ile1255Phe)
c.3859A>T (p.Ile1287Phe)
c.3805A>T (p.Ile1269Phe)
c.3766A>T (p.Ile1256Phe)
c.3715A>T (p.Ile1239Phe)
c.847A>T (p.Ile283Phe)
18g.33743732T>ACA402188543ASXL3c.3887T>A (p.Ile1296Asn)
c.3884T>A (p.Ile1295Asn)
c.3764T>A (p.Ile1255Asn)
c.3860T>A (p.Ile1287Asn)
c.3806T>A (p.Ile1269Asn)
c.3767T>A (p.Ile1256Asn)
c.3716T>A (p.Ile1239Asn)
c.848T>A (p.Ile283Asn)
18g.33743732T>CCA402188545ASXL3c.3887T>C (p.Ile1296Thr)
c.3884T>C (p.Ile1295Thr)
c.3764T>C (p.Ile1255Thr)
c.3860T>C (p.Ile1287Thr)
c.3806T>C (p.Ile1269Thr)
c.3767T>C (p.Ile1256Thr)
c.3716T>C (p.Ile1239Thr)
c.848T>C (p.Ile283Thr)
18g.33743732T>GCA402188549ASXL3c.3887T>G (p.Ile1296Ser)
c.3884T>G (p.Ile1295Ser)
c.3764T>G (p.Ile1255Ser)
c.3860T>G (p.Ile1287Ser)
c.3806T>G (p.Ile1269Ser)
c.3767T>G (p.Ile1256Ser)
c.3716T>G (p.Ile1239Ser)
c.848T>G (p.Ile283Ser)
18g.33743733T>ACA503769855ASXL3c.3888T>A (p.Ile1296=)
c.3885T>A (p.Ile1295=)
c.3765T>A (p.Ile1255=)
c.3861T>A (p.Ile1287=)
c.3807T>A (p.Ile1269=)
c.3768T>A (p.Ile1256=)
c.3717T>A (p.Ile1239=)
c.849T>A (p.Ile283=)
18g.33743733T>CCA503769854ASXL3c.3888T>C (p.Ile1296=)
c.3885T>C (p.Ile1295=)
c.3765T>C (p.Ile1255=)
c.3861T>C (p.Ile1287=)
c.3807T>C (p.Ile1269=)
c.3768T>C (p.Ile1256=)
c.3717T>C (p.Ile1239=)
c.849T>C (p.Ile283=)
18g.33743733T>GCA402188552ASXL3c.3888T>G (p.Ile1296Met)
c.3885T>G (p.Ile1295Met)
c.3765T>G (p.Ile1255Met)
c.3861T>G (p.Ile1287Met)
c.3807T>G (p.Ile1269Met)
c.3768T>G (p.Ile1256Met)
c.3717T>G (p.Ile1239Met)
c.849T>G (p.Ile283Met)
18g.33743734A=CA2294857822ASXL3c.3889A= (p.Ile1297=)
c.3886A= (p.Ile1296=)
c.3766A= (p.Ile1256=)
c.3862A= (p.Ile1288=)
c.3808A= (p.Ile1270=)
c.3769A= (p.Ile1257=)
c.3718A= (p.Ile1240=)
c.850A= (p.Ile284=)
18g.33743734A>CCA402188555ASXL3c.3889A>C (p.Ile1297Leu)
c.3886A>C (p.Ile1296Leu)
c.3766A>C (p.Ile1256Leu)
c.3862A>C (p.Ile1288Leu)
c.3808A>C (p.Ile1270Leu)
c.3769A>C (p.Ile1257Leu)
c.3718A>C (p.Ile1240Leu)
c.850A>C (p.Ile284Leu)
18g.33743734A>GCA402188558ASXL3c.3889A>G (p.Ile1297Val)
c.3886A>G (p.Ile1296Val)
c.3766A>G (p.Ile1256Val)
c.3862A>G (p.Ile1288Val)
c.3808A>G (p.Ile1270Val)
c.3769A>G (p.Ile1257Val)
c.3718A>G (p.Ile1240Val)
c.850A>G (p.Ile284Val)
 dbSNP gnomAD v2
18g.33743734A>TCA402188561ASXL3c.3889A>T (p.Ile1297Leu)
c.3886A>T (p.Ile1296Leu)
c.3766A>T (p.Ile1256Leu)
c.3862A>T (p.Ile1288Leu)
c.3808A>T (p.Ile1270Leu)
c.3769A>T (p.Ile1257Leu)
c.3718A>T (p.Ile1240Leu)
c.850A>T (p.Ile284Leu)
18g.33743735T>ACA402188567ASXL3c.3890T>A (p.Ile1297Lys)
c.3887T>A (p.Ile1296Lys)
c.3767T>A (p.Ile1256Lys)
c.3863T>A (p.Ile1288Lys)
c.3809T>A (p.Ile1270Lys)
c.3770T>A (p.Ile1257Lys)
c.3719T>A (p.Ile1240Lys)
c.851T>A (p.Ile284Lys)
18g.33743735T>CCA402188569ASXL3c.3890T>C (p.Ile1297Thr)
c.3887T>C (p.Ile1296Thr)
c.3767T>C (p.Ile1256Thr)
c.3863T>C (p.Ile1288Thr)
c.3809T>C (p.Ile1270Thr)
c.3770T>C (p.Ile1257Thr)
c.3719T>C (p.Ile1240Thr)
c.851T>C (p.Ile284Thr)
 gnomAD v4 COSMIC
18g.33743735T>GCA402188565ASXL3c.3890T>G (p.Ile1297Arg)
c.3887T>G (p.Ile1296Arg)
c.3767T>G (p.Ile1256Arg)
c.3863T>G (p.Ile1288Arg)
c.3809T>G (p.Ile1270Arg)
c.3770T>G (p.Ile1257Arg)
c.3719T>G (p.Ile1240Arg)
c.851T>G (p.Ile284Arg)
18g.33743736A>CCA503769865ASXL3c.3891A>C (p.Ile1297=)
c.3888A>C (p.Ile1296=)
c.3768A>C (p.Ile1256=)
c.3864A>C (p.Ile1288=)
c.3810A>C (p.Ile1270=)
c.3771A>C (p.Ile1257=)
c.3720A>C (p.Ile1240=)
c.852A>C (p.Ile284=)
18g.33743736A>GCA402188575ASXL3c.3891A>G (p.Ile1297Met)
c.3888A>G (p.Ile1296Met)
c.3768A>G (p.Ile1256Met)
c.3864A>G (p.Ile1288Met)
c.3810A>G (p.Ile1270Met)
c.3771A>G (p.Ile1257Met)
c.3720A>G (p.Ile1240Met)
c.852A>G (p.Ile284Met)
18g.33743736A>TCA503769867ASXL3c.3891A>T (p.Ile1297=)
c.3888A>T (p.Ile1296=)
c.3768A>T (p.Ile1256=)
c.3864A>T (p.Ile1288=)
c.3810A>T (p.Ile1270=)
c.3771A>T (p.Ile1257=)
c.3720A>T (p.Ile1240=)
c.852A>T (p.Ile284=)
18g.33743737C>ACA402188578ASXL3c.3892C>A (p.Pro1298Thr)
c.3889C>A (p.Pro1297Thr)
c.3769C>A (p.Pro1257Thr)
c.3865C>A (p.Pro1289Thr)
c.3811C>A (p.Pro1271Thr)
c.3772C>A (p.Pro1258Thr)
c.3721C>A (p.Pro1241Thr)
c.853C>A (p.Pro285Thr)
 gnomAD v4 COSMIC
18g.33743737C=CA2294857823ASXL3c.3892C= (p.Pro1298=)
c.3889C= (p.Pro1297=)
c.3769C= (p.Pro1257=)
c.3865C= (p.Pro1289=)
c.3811C= (p.Pro1271=)
c.3772C= (p.Pro1258=)
c.3721C= (p.Pro1241=)
c.853C= (p.Pro285=)
18g.33743737C>GCA402188581ASXL3c.3892C>G (p.Pro1298Ala)
c.3889C>G (p.Pro1297Ala)
c.3769C>G (p.Pro1257Ala)
c.3865C>G (p.Pro1289Ala)
c.3811C>G (p.Pro1271Ala)
c.3772C>G (p.Pro1258Ala)
c.3721C>G (p.Pro1241Ala)
c.853C>G (p.Pro285Ala)
 gnomAD v4
18g.33743737C>TCA8934134ASXL3c.3892C>T (p.Pro1298Ser)
c.3889C>T (p.Pro1297Ser)
c.3769C>T (p.Pro1257Ser)
c.3865C>T (p.Pro1289Ser)
c.3811C>T (p.Pro1271Ser)
c.3772C>T (p.Pro1258Ser)
c.3721C>T (p.Pro1241Ser)
c.853C>T (p.Pro285Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743738C>ACA402188594ASXL3c.3893C>A (p.Pro1298Gln)
c.3890C>A (p.Pro1297Gln)
c.3770C>A (p.Pro1257Gln)
c.3866C>A (p.Pro1289Gln)
c.3812C>A (p.Pro1271Gln)
c.3773C>A (p.Pro1258Gln)
c.3722C>A (p.Pro1241Gln)
c.854C>A (p.Pro285Gln)
18g.33743738C=CA2294857824ASXL3c.3893C= (p.Pro1298=)
c.3890C= (p.Pro1297=)
c.3770C= (p.Pro1257=)
c.3866C= (p.Pro1289=)
c.3812C= (p.Pro1271=)
c.3773C= (p.Pro1258=)
c.3722C= (p.Pro1241=)
c.854C= (p.Pro285=)
18g.33743738C>GCA402188591ASXL3c.3893C>G (p.Pro1298Arg)
c.3890C>G (p.Pro1297Arg)
c.3770C>G (p.Pro1257Arg)
c.3866C>G (p.Pro1289Arg)
c.3812C>G (p.Pro1271Arg)
c.3773C>G (p.Pro1258Arg)
c.3722C>G (p.Pro1241Arg)
c.854C>G (p.Pro285Arg)
18g.33743738C>TCA402188588ASXL3c.3893C>T (p.Pro1298Leu)
c.3890C>T (p.Pro1297Leu)
c.3770C>T (p.Pro1257Leu)
c.3866C>T (p.Pro1289Leu)
c.3812C>T (p.Pro1271Leu)
c.3773C>T (p.Pro1258Leu)
c.3722C>T (p.Pro1241Leu)
c.854C>T (p.Pro285Leu)
 dbSNP
18g.33743739A>CCA503769872ASXL3c.3894A>C (p.Pro1298=)
c.3891A>C (p.Pro1297=)
c.3771A>C (p.Pro1257=)
c.3867A>C (p.Pro1289=)
c.3813A>C (p.Pro1271=)
c.3774A>C (p.Pro1258=)
c.3723A>C (p.Pro1241=)
c.855A>C (p.Pro285=)
18g.33743739A>GCA503769874ASXL3c.3894A>G (p.Pro1298=)
c.3891A>G (p.Pro1297=)
c.3771A>G (p.Pro1257=)
c.3867A>G (p.Pro1289=)
c.3813A>G (p.Pro1271=)
c.3774A>G (p.Pro1258=)
c.3723A>G (p.Pro1241=)
c.855A>G (p.Pro285=)
18g.33743739A>TCA503769873ASXL3c.3894A>T (p.Pro1298=)
c.3891A>T (p.Pro1297=)
c.3771A>T (p.Pro1257=)
c.3867A>T (p.Pro1289=)
c.3813A>T (p.Pro1271=)
c.3774A>T (p.Pro1258=)
c.3723A>T (p.Pro1241=)
c.855A>T (p.Pro285=)
18g.33743742dupCA2580095659ASXL3c.3897dup (p.Cys1300MetfsTer3)
c.3894dup (p.Cys1299MetfsTer3)
c.3774dup (p.Cys1259MetfsTer3)
c.3870dup (p.Cys1291MetfsTer3)
c.3816dup (p.Cys1273MetfsTer3)
c.3777dup (p.Cys1260MetfsTer3)
c.3726dup (p.Cys1243MetfsTer3)
c.858dup (p.Cys287MetfsTer3)
 ClinVar
18g.33743740A=CA2294857825ASXL3c.3895A= (p.Lys1299=)
c.3892A= (p.Lys1298=)
c.3772A= (p.Lys1258=)
c.3868A= (p.Lys1290=)
c.3814A= (p.Lys1272=)
c.3775A= (p.Lys1259=)
c.3724A= (p.Lys1242=)
c.856A= (p.Lys286=)
18g.33743740A>CCA8934136ASXL3c.3895A>C (p.Lys1299Gln)
c.3892A>C (p.Lys1298Gln)
c.3772A>C (p.Lys1258Gln)
c.3868A>C (p.Lys1290Gln)
c.3814A>C (p.Lys1272Gln)
c.3775A>C (p.Lys1259Gln)
c.3724A>C (p.Lys1242Gln)
c.856A>C (p.Lys286Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743740A>GCA8934135ASXL3c.3895A>G (p.Lys1299Glu)
c.3892A>G (p.Lys1298Glu)
c.3772A>G (p.Lys1258Glu)
c.3868A>G (p.Lys1290Glu)
c.3814A>G (p.Lys1272Glu)
c.3775A>G (p.Lys1259Glu)
c.3724A>G (p.Lys1242Glu)
c.856A>G (p.Lys286Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743740A>TCA402188599ASXL3c.3895A>T (p.Lys1299Ter)
c.3892A>T (p.Lys1298Ter)
c.3772A>T (p.Lys1258Ter)
c.3868A>T (p.Lys1290Ter)
c.3814A>T (p.Lys1272Ter)
c.3775A>T (p.Lys1259Ter)
c.3724A>T (p.Lys1242Ter)
c.856A>T (p.Lys286Ter)
18g.33743741A>CCA402188605ASXL3c.3896A>C (p.Lys1299Thr)
c.3893A>C (p.Lys1298Thr)
c.3773A>C (p.Lys1258Thr)
c.3869A>C (p.Lys1290Thr)
c.3815A>C (p.Lys1272Thr)
c.3776A>C (p.Lys1259Thr)
c.3725A>C (p.Lys1242Thr)
c.857A>C (p.Lys286Thr)
18g.33743741A>GCA402188608ASXL3c.3896A>G (p.Lys1299Arg)
c.3893A>G (p.Lys1298Arg)
c.3773A>G (p.Lys1258Arg)
c.3869A>G (p.Lys1290Arg)
c.3815A>G (p.Lys1272Arg)
c.3776A>G (p.Lys1259Arg)
c.3725A>G (p.Lys1242Arg)
c.857A>G (p.Lys286Arg)
18g.33743741A>TCA402188618ASXL3c.3896A>T (p.Lys1299Ile)
c.3893A>T (p.Lys1298Ile)
c.3773A>T (p.Lys1258Ile)
c.3869A>T (p.Lys1290Ile)
c.3815A>T (p.Lys1272Ile)
c.3776A>T (p.Lys1259Ile)
c.3725A>T (p.Lys1242Ile)
c.857A>T (p.Lys286Ile)
18g.33743742A=CA2294857826ASXL3c.3897A= (p.Lys1299=)
c.3894A= (p.Lys1298=)
c.3774A= (p.Lys1258=)
c.3870A= (p.Lys1290=)
c.3816A= (p.Lys1272=)
c.3777A= (p.Lys1259=)
c.3726A= (p.Lys1242=)
c.858A= (p.Lys286=)
18g.33743742A>CCA402188629ASXL3c.3897A>C (p.Lys1299Asn)
c.3894A>C (p.Lys1298Asn)
c.3774A>C (p.Lys1258Asn)
c.3870A>C (p.Lys1290Asn)
c.3816A>C (p.Lys1272Asn)
c.3777A>C (p.Lys1259Asn)
c.3726A>C (p.Lys1242Asn)
c.858A>C (p.Lys286Asn)
18g.33743742A>GCA8934137ASXL3c.3897A>G (p.Lys1299=)
c.3894A>G (p.Lys1298=)
c.3774A>G (p.Lys1258=)
c.3870A>G (p.Lys1290=)
c.3816A>G (p.Lys1272=)
c.3777A>G (p.Lys1259=)
c.3726A>G (p.Lys1242=)
c.858A>G (p.Lys286=)
 dbSNP ExAC gnomAD v2
18g.33743742A>TCA402188624ASXL3c.3897A>T (p.Lys1299Asn)
c.3894A>T (p.Lys1298Asn)
c.3774A>T (p.Lys1258Asn)
c.3870A>T (p.Lys1290Asn)
c.3816A>T (p.Lys1272Asn)
c.3777A>T (p.Lys1259Asn)
c.3726A>T (p.Lys1242Asn)
c.858A>T (p.Lys286Asn)
18g.33743743T>ACA402188635ASXL3c.3898T>A (p.Cys1300Ser)
c.3895T>A (p.Cys1299Ser)
c.3775T>A (p.Cys1259Ser)
c.3871T>A (p.Cys1291Ser)
c.3817T>A (p.Cys1273Ser)
c.3778T>A (p.Cys1260Ser)
c.3727T>A (p.Cys1243Ser)
c.859T>A (p.Cys287Ser)
18g.33743743T>CCA402188637ASXL3c.3898T>C (p.Cys1300Arg)
c.3895T>C (p.Cys1299Arg)
c.3775T>C (p.Cys1259Arg)
c.3871T>C (p.Cys1291Arg)
c.3817T>C (p.Cys1273Arg)
c.3778T>C (p.Cys1260Arg)
c.3727T>C (p.Cys1243Arg)
c.859T>C (p.Cys287Arg)
18g.33743743T>GCA402188640ASXL3c.3898T>G (p.Cys1300Gly)
c.3895T>G (p.Cys1299Gly)
c.3775T>G (p.Cys1259Gly)
c.3871T>G (p.Cys1291Gly)
c.3817T>G (p.Cys1273Gly)
c.3778T>G (p.Cys1260Gly)
c.3727T>G (p.Cys1243Gly)
c.859T>G (p.Cys287Gly)
 dbSNP
18g.33743743T=CA2294857827ASXL3c.3898T= (p.Cys1300=)
c.3895T= (p.Cys1299=)
c.3775T= (p.Cys1259=)
c.3871T= (p.Cys1291=)
c.3817T= (p.Cys1273=)
c.3778T= (p.Cys1260=)
c.3727T= (p.Cys1243=)
c.859T= (p.Cys287=)
18g.33743744G>ACA402188646ASXL3c.3899G>A (p.Cys1300Tyr)
c.3896G>A (p.Cys1299Tyr)
c.3776G>A (p.Cys1259Tyr)
c.3872G>A (p.Cys1291Tyr)
c.3818G>A (p.Cys1273Tyr)
c.3779G>A (p.Cys1260Tyr)
c.3728G>A (p.Cys1243Tyr)
c.860G>A (p.Cys287Tyr)
18g.33743744G>CCA402188647ASXL3c.3899G>C (p.Cys1300Ser)
c.3896G>C (p.Cys1299Ser)
c.3776G>C (p.Cys1259Ser)
c.3872G>C (p.Cys1291Ser)
c.3818G>C (p.Cys1273Ser)
c.3779G>C (p.Cys1260Ser)
c.3728G>C (p.Cys1243Ser)
c.860G>C (p.Cys287Ser)
18g.33743744G>TCA402188650ASXL3c.3899G>T (p.Cys1300Phe)
c.3896G>T (p.Cys1299Phe)
c.3776G>T (p.Cys1259Phe)
c.3872G>T (p.Cys1291Phe)
c.3818G>T (p.Cys1273Phe)
c.3779G>T (p.Cys1260Phe)
c.3728G>T (p.Cys1243Phe)
c.860G>T (p.Cys287Phe)
18g.33743745T>ACA402188655ASXL3c.3900T>A (p.Cys1300Ter)
c.3897T>A (p.Cys1299Ter)
c.3777T>A (p.Cys1259Ter)
c.3873T>A (p.Cys1291Ter)
c.3819T>A (p.Cys1273Ter)
c.3780T>A (p.Cys1260Ter)
c.3729T>A (p.Cys1243Ter)
c.861T>A (p.Cys287Ter)
18g.33743745T>CCA503769891ASXL3c.3900T>C (p.Cys1300=)
c.3897T>C (p.Cys1299=)
c.3777T>C (p.Cys1259=)
c.3873T>C (p.Cys1291=)
c.3819T>C (p.Cys1273=)
c.3780T>C (p.Cys1260=)
c.3729T>C (p.Cys1243=)
c.861T>C (p.Cys287=)
 gnomAD v4
18g.33743745T>GCA402188657ASXL3c.3900T>G (p.Cys1300Trp)
c.3897T>G (p.Cys1299Trp)
c.3777T>G (p.Cys1259Trp)
c.3873T>G (p.Cys1291Trp)
c.3819T>G (p.Cys1273Trp)
c.3780T>G (p.Cys1260Trp)
c.3729T>G (p.Cys1243Trp)
c.861T>G (p.Cys287Trp)
18g.33743746A>CCA402188660ASXL3c.3901A>C (p.Ile1301Leu)
c.3898A>C (p.Ile1300Leu)
c.3778A>C (p.Ile1260Leu)
c.3874A>C (p.Ile1292Leu)
c.3820A>C (p.Ile1274Leu)
c.3781A>C (p.Ile1261Leu)
c.3730A>C (p.Ile1244Leu)
c.862A>C (p.Ile288Leu)
18g.33743746A>GCA402188662ASXL3c.3901A>G (p.Ile1301Val)
c.3898A>G (p.Ile1300Val)
c.3778A>G (p.Ile1260Val)
c.3874A>G (p.Ile1292Val)
c.3820A>G (p.Ile1274Val)
c.3781A>G (p.Ile1261Val)
c.3730A>G (p.Ile1244Val)
c.862A>G (p.Ile288Val)
18g.33743746A>TCA402188663ASXL3c.3901A>T (p.Ile1301Phe)
c.3898A>T (p.Ile1300Phe)
c.3778A>T (p.Ile1260Phe)
c.3874A>T (p.Ile1292Phe)
c.3820A>T (p.Ile1274Phe)
c.3781A>T (p.Ile1261Phe)
c.3730A>T (p.Ile1244Phe)
c.862A>T (p.Ile288Phe)
18g.33743747T>ACA402188669ASXL3c.3902T>A (p.Ile1301Asn)
c.3899T>A (p.Ile1300Asn)
c.3779T>A (p.Ile1260Asn)
c.3875T>A (p.Ile1292Asn)
c.3821T>A (p.Ile1274Asn)
c.3782T>A (p.Ile1261Asn)
c.3731T>A (p.Ile1244Asn)
c.863T>A (p.Ile288Asn)
18g.33743747T>CCA8934138ASXL3c.3902T>C (p.Ile1301Thr)
c.3899T>C (p.Ile1300Thr)
c.3779T>C (p.Ile1260Thr)
c.3875T>C (p.Ile1292Thr)
c.3821T>C (p.Ile1274Thr)
c.3782T>C (p.Ile1261Thr)
c.3731T>C (p.Ile1244Thr)
c.863T>C (p.Ile288Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743747T>GCA402188675ASXL3c.3902T>G (p.Ile1301Ser)
c.3899T>G (p.Ile1300Ser)
c.3779T>G (p.Ile1260Ser)
c.3875T>G (p.Ile1292Ser)
c.3821T>G (p.Ile1274Ser)
c.3782T>G (p.Ile1261Ser)
c.3731T>G (p.Ile1244Ser)
c.863T>G (p.Ile288Ser)
18g.33743747T=CA2294857828ASXL3c.3902T= (p.Ile1301=)
c.3899T= (p.Ile1300=)
c.3779T= (p.Ile1260=)
c.3875T= (p.Ile1292=)
c.3821T= (p.Ile1274=)
c.3782T= (p.Ile1261=)
c.3731T= (p.Ile1244=)
c.863T= (p.Ile288=)
18g.33743748T>ACA503769899ASXL3c.3903T>A (p.Ile1301=)
c.3900T>A (p.Ile1300=)
c.3780T>A (p.Ile1260=)
c.3876T>A (p.Ile1292=)
c.3822T>A (p.Ile1274=)
c.3783T>A (p.Ile1261=)
c.3732T>A (p.Ile1244=)
c.864T>A (p.Ile288=)
18g.33743748T>CCA503769902ASXL3c.3903T>C (p.Ile1301=)
c.3900T>C (p.Ile1300=)
c.3780T>C (p.Ile1260=)
c.3876T>C (p.Ile1292=)
c.3822T>C (p.Ile1274=)
c.3783T>C (p.Ile1261=)
c.3732T>C (p.Ile1244=)
c.864T>C (p.Ile288=)
18g.33743748T>GCA402188678ASXL3c.3903T>G (p.Ile1301Met)
c.3900T>G (p.Ile1300Met)
c.3780T>G (p.Ile1260Met)
c.3876T>G (p.Ile1292Met)
c.3822T>G (p.Ile1274Met)
c.3783T>G (p.Ile1261Met)
c.3732T>G (p.Ile1244Met)
c.864T>G (p.Ile288Met)
18g.33743749G>ACA402188682ASXL3c.3904G>A (p.Glu1302Lys)
c.3901G>A (p.Glu1301Lys)
c.3781G>A (p.Glu1261Lys)
c.3877G>A (p.Glu1293Lys)
c.3823G>A (p.Glu1275Lys)
c.3784G>A (p.Glu1262Lys)
c.3733G>A (p.Glu1245Lys)
c.865G>A (p.Glu289Lys)
 dbSNP gnomAD v2 gnomAD v4
18g.33743749G>CCA402188685ASXL3c.3904G>C (p.Glu1302Gln)
c.3901G>C (p.Glu1301Gln)
c.3781G>C (p.Glu1261Gln)
c.3877G>C (p.Glu1293Gln)
c.3823G>C (p.Glu1275Gln)
c.3784G>C (p.Glu1262Gln)
c.3733G>C (p.Glu1245Gln)
c.865G>C (p.Glu289Gln)
18g.33743749G=CA2294857829ASXL3c.3904G= (p.Glu1302=)
c.3901G= (p.Glu1301=)
c.3781G= (p.Glu1261=)
c.3877G= (p.Glu1293=)
c.3823G= (p.Glu1275=)
c.3784G= (p.Glu1262=)
c.3733G= (p.Glu1245=)
c.865G= (p.Glu289=)
18g.33743749G>TCA402188688ASXL3c.3904G>T (p.Glu1302Ter)
c.3901G>T (p.Glu1301Ter)
c.3781G>T (p.Glu1261Ter)
c.3877G>T (p.Glu1293Ter)
c.3823G>T (p.Glu1275Ter)
c.3784G>T (p.Glu1262Ter)
c.3733G>T (p.Glu1245Ter)
c.865G>T (p.Glu289Ter)
18g.33743750A>CCA402188692ASXL3c.3905A>C (p.Glu1302Ala)
c.3902A>C (p.Glu1301Ala)
c.3782A>C (p.Glu1261Ala)
c.3878A>C (p.Glu1293Ala)
c.3824A>C (p.Glu1275Ala)
c.3785A>C (p.Glu1262Ala)
c.3734A>C (p.Glu1245Ala)
c.866A>C (p.Glu289Ala)
18g.33743750A>GCA402188694ASXL3c.3905A>G (p.Glu1302Gly)
c.3902A>G (p.Glu1301Gly)
c.3782A>G (p.Glu1261Gly)
c.3878A>G (p.Glu1293Gly)
c.3824A>G (p.Glu1275Gly)
c.3785A>G (p.Glu1262Gly)
c.3734A>G (p.Glu1245Gly)
c.866A>G (p.Glu289Gly)
18g.33743750A>TCA402188697ASXL3c.3905A>T (p.Glu1302Val)
c.3902A>T (p.Glu1301Val)
c.3782A>T (p.Glu1261Val)
c.3878A>T (p.Glu1293Val)
c.3824A>T (p.Glu1275Val)
c.3785A>T (p.Glu1262Val)
c.3734A>T (p.Glu1245Val)
c.866A>T (p.Glu289Val)
18g.33743751A>CCA402188700ASXL3c.3906A>C (p.Glu1302Asp)
c.3903A>C (p.Glu1301Asp)
c.3783A>C (p.Glu1261Asp)
c.3879A>C (p.Glu1293Asp)
c.3825A>C (p.Glu1275Asp)
c.3786A>C (p.Glu1262Asp)
c.3735A>C (p.Glu1245Asp)
c.867A>C (p.Glu289Asp)
18g.33743751A>GCA503769913ASXL3c.3906A>G (p.Glu1302=)
c.3903A>G (p.Glu1301=)
c.3783A>G (p.Glu1261=)
c.3879A>G (p.Glu1293=)
c.3825A>G (p.Glu1275=)
c.3786A>G (p.Glu1262=)
c.3735A>G (p.Glu1245=)
c.867A>G (p.Glu289=)
18g.33743751A>TCA402188703ASXL3c.3906A>T (p.Glu1302Asp)
c.3903A>T (p.Glu1301Asp)
c.3783A>T (p.Glu1261Asp)
c.3879A>T (p.Glu1293Asp)
c.3825A>T (p.Glu1275Asp)
c.3786A>T (p.Glu1262Asp)
c.3735A>T (p.Glu1245Asp)
c.867A>T (p.Glu289Asp)
18g.33743752A>CCA402188706ASXL3c.3907A>C (p.Ser1303Arg)
c.3904A>C (p.Ser1302Arg)
c.3784A>C (p.Ser1262Arg)
c.3880A>C (p.Ser1294Arg)
c.3826A>C (p.Ser1276Arg)
c.3787A>C (p.Ser1263Arg)
c.3736A>C (p.Ser1246Arg)
c.868A>C (p.Ser290Arg)
18g.33743752A>GCA402188708ASXL3c.3907A>G (p.Ser1303Gly)
c.3904A>G (p.Ser1302Gly)
c.3784A>G (p.Ser1262Gly)
c.3880A>G (p.Ser1294Gly)
c.3826A>G (p.Ser1276Gly)
c.3787A>G (p.Ser1263Gly)
c.3736A>G (p.Ser1246Gly)
c.868A>G (p.Ser290Gly)
 gnomAD v4
18g.33743752A>TCA402188711ASXL3c.3907A>T (p.Ser1303Cys)
c.3904A>T (p.Ser1302Cys)
c.3784A>T (p.Ser1262Cys)
c.3880A>T (p.Ser1294Cys)
c.3826A>T (p.Ser1276Cys)
c.3787A>T (p.Ser1263Cys)
c.3736A>T (p.Ser1246Cys)
c.868A>T (p.Ser290Cys)
18g.33743753G>ACA402188714ASXL3c.3908G>A (p.Ser1303Asn)
c.3905G>A (p.Ser1302Asn)
c.3785G>A (p.Ser1262Asn)
c.3881G>A (p.Ser1294Asn)
c.3827G>A (p.Ser1276Asn)
c.3788G>A (p.Ser1263Asn)
c.3737G>A (p.Ser1246Asn)
c.869G>A (p.Ser290Asn)
 gnomAD v4
18g.33743753G>CCA402188716ASXL3c.3908G>C (p.Ser1303Thr)
c.3905G>C (p.Ser1302Thr)
c.3785G>C (p.Ser1262Thr)
c.3881G>C (p.Ser1294Thr)
c.3827G>C (p.Ser1276Thr)
c.3788G>C (p.Ser1263Thr)
c.3737G>C (p.Ser1246Thr)
c.869G>C (p.Ser290Thr)
18g.33743753G>TCA402188718ASXL3c.3908G>T (p.Ser1303Ile)
c.3905G>T (p.Ser1302Ile)
c.3785G>T (p.Ser1262Ile)
c.3881G>T (p.Ser1294Ile)
c.3827G>T (p.Ser1276Ile)
c.3788G>T (p.Ser1263Ile)
c.3737G>T (p.Ser1246Ile)
c.869G>T (p.Ser290Ile)
 COSMIC
18g.33743754C>ACA402188724ASXL3c.3909C>A (p.Ser1303Arg)
c.3906C>A (p.Ser1302Arg)
c.3786C>A (p.Ser1262Arg)
c.3882C>A (p.Ser1294Arg)
c.3828C>A (p.Ser1276Arg)
c.3789C>A (p.Ser1263Arg)
c.3738C>A (p.Ser1246Arg)
c.870C>A (p.Ser290Arg)
18g.33743754C>GCA402188721ASXL3c.3909C>G (p.Ser1303Arg)
c.3906C>G (p.Ser1302Arg)
c.3786C>G (p.Ser1262Arg)
c.3882C>G (p.Ser1294Arg)
c.3828C>G (p.Ser1276Arg)
c.3789C>G (p.Ser1263Arg)
c.3738C>G (p.Ser1246Arg)
c.870C>G (p.Ser290Arg)
18g.33743754C>TCA503769926ASXL3c.3909C>T (p.Ser1303=)
c.3906C>T (p.Ser1302=)
c.3786C>T (p.Ser1262=)
c.3882C>T (p.Ser1294=)
c.3828C>T (p.Ser1276=)
c.3789C>T (p.Ser1263=)
c.3738C>T (p.Ser1246=)
c.870C>T (p.Ser290=)
18g.33743755A=CA2294857830ASXL3c.3910A= (p.Thr1304=)
c.3907A= (p.Thr1303=)
c.3787A= (p.Thr1263=)
c.3883A= (p.Thr1295=)
c.3829A= (p.Thr1277=)
c.3790A= (p.Thr1264=)
c.3739A= (p.Thr1247=)
c.871A= (p.Thr291=)
18g.33743755A>CCA402188728ASXL3c.3910A>C (p.Thr1304Pro)
c.3907A>C (p.Thr1303Pro)
c.3787A>C (p.Thr1263Pro)
c.3883A>C (p.Thr1295Pro)
c.3829A>C (p.Thr1277Pro)
c.3790A>C (p.Thr1264Pro)
c.3739A>C (p.Thr1247Pro)
c.871A>C (p.Thr291Pro)
 dbSNP
18g.33743755A>GCA8934139ASXL3c.3910A>G (p.Thr1304Ala)
c.3907A>G (p.Thr1303Ala)
c.3787A>G (p.Thr1263Ala)
c.3883A>G (p.Thr1295Ala)
c.3829A>G (p.Thr1277Ala)
c.3790A>G (p.Thr1264Ala)
c.3739A>G (p.Thr1247Ala)
c.871A>G (p.Thr291Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743755A>TCA402188734ASXL3c.3910A>T (p.Thr1304Ser)
c.3907A>T (p.Thr1303Ser)
c.3787A>T (p.Thr1263Ser)
c.3883A>T (p.Thr1295Ser)
c.3829A>T (p.Thr1277Ser)
c.3790A>T (p.Thr1264Ser)
c.3739A>T (p.Thr1247Ser)
c.871A>T (p.Thr291Ser)
18g.33743756C>ACA402188738ASXL3c.3911C>A (p.Thr1304Asn)
c.3908C>A (p.Thr1303Asn)
c.3788C>A (p.Thr1263Asn)
c.3884C>A (p.Thr1295Asn)
c.3830C>A (p.Thr1277Asn)
c.3791C>A (p.Thr1264Asn)
c.3740C>A (p.Thr1247Asn)
c.872C>A (p.Thr291Asn)
18g.33743756C>GCA402188742ASXL3c.3911C>G (p.Thr1304Ser)
c.3908C>G (p.Thr1303Ser)
c.3788C>G (p.Thr1263Ser)
c.3884C>G (p.Thr1295Ser)
c.3830C>G (p.Thr1277Ser)
c.3791C>G (p.Thr1264Ser)
c.3740C>G (p.Thr1247Ser)
c.872C>G (p.Thr291Ser)
18g.33743756C>TCA402188745ASXL3c.3911C>T (p.Thr1304Ile)
c.3908C>T (p.Thr1303Ile)
c.3788C>T (p.Thr1263Ile)
c.3884C>T (p.Thr1295Ile)
c.3830C>T (p.Thr1277Ile)
c.3791C>T (p.Thr1264Ile)
c.3740C>T (p.Thr1247Ile)
c.872C>T (p.Thr291Ile)
18g.33743757T>ACA503769930ASXL3c.3912T>A (p.Thr1304=)
c.3909T>A (p.Thr1303=)
c.3789T>A (p.Thr1263=)
c.3885T>A (p.Thr1295=)
c.3831T>A (p.Thr1277=)
c.3792T>A (p.Thr1264=)
c.3741T>A (p.Thr1247=)
c.873T>A (p.Thr291=)
18g.33743757T>CCA503769932ASXL3c.3912T>C (p.Thr1304=)
c.3909T>C (p.Thr1303=)
c.3789T>C (p.Thr1263=)
c.3885T>C (p.Thr1295=)
c.3831T>C (p.Thr1277=)
c.3792T>C (p.Thr1264=)
c.3741T>C (p.Thr1247=)
c.873T>C (p.Thr291=)
18g.33743757T>GCA503769933ASXL3c.3912T>G (p.Thr1304=)
c.3909T>G (p.Thr1303=)
c.3789T>G (p.Thr1263=)
c.3885T>G (p.Thr1295=)
c.3831T>G (p.Thr1277=)
c.3792T>G (p.Thr1264=)
c.3741T>G (p.Thr1247=)
c.873T>G (p.Thr291=)
18g.33743758C>ACA402188753ASXL3c.3913C>A (p.Pro1305Thr)
c.3910C>A (p.Pro1304Thr)
c.3790C>A (p.Pro1264Thr)
c.3886C>A (p.Pro1296Thr)
c.3832C>A (p.Pro1278Thr)
c.3793C>A (p.Pro1265Thr)
c.3742C>A (p.Pro1248Thr)
c.874C>A (p.Pro292Thr)
18g.33743758C>GCA402188751ASXL3c.3913C>G (p.Pro1305Ala)
c.3910C>G (p.Pro1304Ala)
c.3790C>G (p.Pro1264Ala)
c.3886C>G (p.Pro1296Ala)
c.3832C>G (p.Pro1278Ala)
c.3793C>G (p.Pro1265Ala)
c.3742C>G (p.Pro1248Ala)
c.874C>G (p.Pro292Ala)
18g.33743758C>TCA402188750ASXL3c.3913C>T (p.Pro1305Ser)
c.3910C>T (p.Pro1304Ser)
c.3790C>T (p.Pro1264Ser)
c.3886C>T (p.Pro1296Ser)
c.3832C>T (p.Pro1278Ser)
c.3793C>T (p.Pro1265Ser)
c.3742C>T (p.Pro1248Ser)
c.874C>T (p.Pro292Ser)
18g.33743759C>ACA402188759ASXL3c.3914C>A (p.Pro1305His)
c.3911C>A (p.Pro1304His)
c.3791C>A (p.Pro1264His)
c.3887C>A (p.Pro1296His)
c.3833C>A (p.Pro1278His)
c.3794C>A (p.Pro1265His)
c.3743C>A (p.Pro1248His)
c.875C>A (p.Pro292His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743759C=CA2294857831ASXL3c.3914C= (p.Pro1305=)
c.3911C= (p.Pro1304=)
c.3791C= (p.Pro1264=)
c.3887C= (p.Pro1296=)
c.3833C= (p.Pro1278=)
c.3794C= (p.Pro1265=)
c.3743C= (p.Pro1248=)
c.875C= (p.Pro292=)
18g.33743759C>GCA402188761ASXL3c.3914C>G (p.Pro1305Arg)
c.3911C>G (p.Pro1304Arg)
c.3791C>G (p.Pro1264Arg)
c.3887C>G (p.Pro1296Arg)
c.3833C>G (p.Pro1278Arg)
c.3794C>G (p.Pro1265Arg)
c.3743C>G (p.Pro1248Arg)
c.875C>G (p.Pro292Arg)
18g.33743759C>TCA402188764ASXL3c.3914C>T (p.Pro1305Leu)
c.3911C>T (p.Pro1304Leu)
c.3791C>T (p.Pro1264Leu)
c.3887C>T (p.Pro1296Leu)
c.3833C>T (p.Pro1278Leu)
c.3794C>T (p.Pro1265Leu)
c.3743C>T (p.Pro1248Leu)
c.875C>T (p.Pro292Leu)
 gnomAD v4
18g.33743760C>ACA503769937ASXL3c.3915C>A (p.Pro1305=)
c.3912C>A (p.Pro1304=)
c.3792C>A (p.Pro1264=)
c.3888C>A (p.Pro1296=)
c.3834C>A (p.Pro1278=)
c.3795C>A (p.Pro1265=)
c.3744C>A (p.Pro1248=)
c.876C>A (p.Pro292=)
18g.33743760C>GCA503769939ASXL3c.3915C>G (p.Pro1305=)
c.3912C>G (p.Pro1304=)
c.3792C>G (p.Pro1264=)
c.3888C>G (p.Pro1296=)
c.3834C>G (p.Pro1278=)
c.3795C>G (p.Pro1265=)
c.3744C>G (p.Pro1248=)
c.876C>G (p.Pro292=)
18g.33743760C>TCA503769936ASXL3c.3915C>T (p.Pro1305=)
c.3912C>T (p.Pro1304=)
c.3792C>T (p.Pro1264=)
c.3888C>T (p.Pro1296=)
c.3834C>T (p.Pro1278=)
c.3795C>T (p.Pro1265=)
c.3744C>T (p.Pro1248=)
c.876C>T (p.Pro292=)
18g.33743761A>CCA402188768ASXL3c.3916A>C (p.Ile1306Leu)
c.3913A>C (p.Ile1305Leu)
c.3793A>C (p.Ile1265Leu)
c.3889A>C (p.Ile1297Leu)
c.3835A>C (p.Ile1279Leu)
c.3796A>C (p.Ile1266Leu)
c.3745A>C (p.Ile1249Leu)
c.877A>C (p.Ile293Leu)
18g.33743761A>GCA402188770ASXL3c.3916A>G (p.Ile1306Val)
c.3913A>G (p.Ile1305Val)
c.3793A>G (p.Ile1265Val)
c.3889A>G (p.Ile1297Val)
c.3835A>G (p.Ile1279Val)
c.3796A>G (p.Ile1266Val)
c.3745A>G (p.Ile1249Val)
c.877A>G (p.Ile293Val)
18g.33743761A>TCA402188773ASXL3c.3916A>T (p.Ile1306Phe)
c.3913A>T (p.Ile1305Phe)
c.3793A>T (p.Ile1265Phe)
c.3889A>T (p.Ile1297Phe)
c.3835A>T (p.Ile1279Phe)
c.3796A>T (p.Ile1266Phe)
c.3745A>T (p.Ile1249Phe)
c.877A>T (p.Ile293Phe)
18g.33743762T>ACA402188783ASXL3c.3917T>A (p.Ile1306Asn)
c.3914T>A (p.Ile1305Asn)
c.3794T>A (p.Ile1265Asn)
c.3890T>A (p.Ile1297Asn)
c.3836T>A (p.Ile1279Asn)
c.3797T>A (p.Ile1266Asn)
c.3746T>A (p.Ile1249Asn)
c.878T>A (p.Ile293Asn)
18g.33743762T>CCA402188777ASXL3c.3917T>C (p.Ile1306Thr)
c.3914T>C (p.Ile1305Thr)
c.3794T>C (p.Ile1265Thr)
c.3890T>C (p.Ile1297Thr)
c.3836T>C (p.Ile1279Thr)
c.3797T>C (p.Ile1266Thr)
c.3746T>C (p.Ile1249Thr)
c.878T>C (p.Ile293Thr)
18g.33743762T>GCA402188780ASXL3c.3917T>G (p.Ile1306Ser)
c.3914T>G (p.Ile1305Ser)
c.3794T>G (p.Ile1265Ser)
c.3890T>G (p.Ile1297Ser)
c.3836T>G (p.Ile1279Ser)
c.3797T>G (p.Ile1266Ser)
c.3746T>G (p.Ile1249Ser)
c.878T>G (p.Ile293Ser)
18g.33743763T>ACA503769949ASXL3c.3918T>A (p.Ile1306=)
c.3915T>A (p.Ile1305=)
c.3795T>A (p.Ile1265=)
c.3891T>A (p.Ile1297=)
c.3837T>A (p.Ile1279=)
c.3798T>A (p.Ile1266=)
c.3747T>A (p.Ile1249=)
c.879T>A (p.Ile293=)
18g.33743763T>CCA503769946ASXL3c.3918T>C (p.Ile1306=)
c.3915T>C (p.Ile1305=)
c.3795T>C (p.Ile1265=)
c.3891T>C (p.Ile1297=)
c.3837T>C (p.Ile1279=)
c.3798T>C (p.Ile1266=)
c.3747T>C (p.Ile1249=)
c.879T>C (p.Ile293=)
18g.33743763T>GCA402188786ASXL3c.3918T>G (p.Ile1306Met)
c.3915T>G (p.Ile1305Met)
c.3795T>G (p.Ile1265Met)
c.3891T>G (p.Ile1297Met)
c.3837T>G (p.Ile1279Met)
c.3798T>G (p.Ile1266Met)
c.3747T>G (p.Ile1249Met)
c.879T>G (p.Ile293Met)
18g.33743764T>ACA402188791ASXL3c.3919T>A (p.Ser1307Thr)
c.3916T>A (p.Ser1306Thr)
c.3796T>A (p.Ser1266Thr)
c.3892T>A (p.Ser1298Thr)
c.3838T>A (p.Ser1280Thr)
c.3799T>A (p.Ser1267Thr)
c.3748T>A (p.Ser1250Thr)
c.880T>A (p.Ser294Thr)
18g.33743764T>CCA402188794ASXL3c.3919T>C (p.Ser1307Pro)
c.3916T>C (p.Ser1306Pro)
c.3796T>C (p.Ser1266Pro)
c.3892T>C (p.Ser1298Pro)
c.3838T>C (p.Ser1280Pro)
c.3799T>C (p.Ser1267Pro)
c.3748T>C (p.Ser1250Pro)
c.880T>C (p.Ser294Pro)
18g.33743764T>GCA402188796ASXL3c.3919T>G (p.Ser1307Ala)
c.3916T>G (p.Ser1306Ala)
c.3796T>G (p.Ser1266Ala)
c.3892T>G (p.Ser1298Ala)
c.3838T>G (p.Ser1280Ala)
c.3799T>G (p.Ser1267Ala)
c.3748T>G (p.Ser1250Ala)
c.880T>G (p.Ser294Ala)
 gnomAD v4
18g.33743765C>ACA402188800ASXL3c.3920C>A (p.Ser1307Ter)
c.3917C>A (p.Ser1306Ter)
c.3797C>A (p.Ser1266Ter)
c.3893C>A (p.Ser1298Ter)
c.3839C>A (p.Ser1280Ter)
c.3800C>A (p.Ser1267Ter)
c.3749C>A (p.Ser1250Ter)
c.881C>A (p.Ser294Ter)
18g.33743765C>GCA402188803ASXL3c.3920C>G (p.Ser1307Ter)
c.3917C>G (p.Ser1306Ter)
c.3797C>G (p.Ser1266Ter)
c.3893C>G (p.Ser1298Ter)
c.3839C>G (p.Ser1280Ter)
c.3800C>G (p.Ser1267Ter)
c.3749C>G (p.Ser1250Ter)
c.881C>G (p.Ser294Ter)
18g.33743765C>TCA402188805ASXL3c.3920C>T (p.Ser1307Leu)
c.3917C>T (p.Ser1306Leu)
c.3797C>T (p.Ser1266Leu)
c.3893C>T (p.Ser1298Leu)
c.3839C>T (p.Ser1280Leu)
c.3800C>T (p.Ser1267Leu)
c.3749C>T (p.Ser1250Leu)
c.881C>T (p.Ser294Leu)
18g.33743766A>CCA503769956ASXL3c.3921A>C (p.Ser1307=)
c.3918A>C (p.Ser1306=)
c.3798A>C (p.Ser1266=)
c.3894A>C (p.Ser1298=)
c.3840A>C (p.Ser1280=)
c.3801A>C (p.Ser1267=)
c.3750A>C (p.Ser1250=)
c.882A>C (p.Ser294=)
18g.33743766A>GCA503769965ASXL3c.3921A>G (p.Ser1307=)
c.3918A>G (p.Ser1306=)
c.3798A>G (p.Ser1266=)
c.3894A>G (p.Ser1298=)
c.3840A>G (p.Ser1280=)
c.3801A>G (p.Ser1267=)
c.3750A>G (p.Ser1250=)
c.882A>G (p.Ser294=)
18g.33743766A>TCA503769964ASXL3c.3921A>T (p.Ser1307=)
c.3918A>T (p.Ser1306=)
c.3798A>T (p.Ser1266=)
c.3894A>T (p.Ser1298=)
c.3840A>T (p.Ser1280=)
c.3801A>T (p.Ser1267=)
c.3750A>T (p.Ser1250=)
c.882A>T (p.Ser294=)
18g.33743767G>ACA402188808ASXL3c.3922G>A (p.Ala1308Thr)
c.3919G>A (p.Ala1307Thr)
c.3799G>A (p.Ala1267Thr)
c.3895G>A (p.Ala1299Thr)
c.3841G>A (p.Ala1281Thr)
c.3802G>A (p.Ala1268Thr)
c.3751G>A (p.Ala1251Thr)
c.883G>A (p.Ala295Thr)
 gnomAD v4
18g.33743767G>CCA402188810ASXL3c.3922G>C (p.Ala1308Pro)
c.3919G>C (p.Ala1307Pro)
c.3799G>C (p.Ala1267Pro)
c.3895G>C (p.Ala1299Pro)
c.3841G>C (p.Ala1281Pro)
c.3802G>C (p.Ala1268Pro)
c.3751G>C (p.Ala1251Pro)
c.883G>C (p.Ala295Pro)
 gnomAD v4
18g.33743767G>TCA402188812ASXL3c.3922G>T (p.Ala1308Ser)
c.3919G>T (p.Ala1307Ser)
c.3799G>T (p.Ala1267Ser)
c.3895G>T (p.Ala1299Ser)
c.3841G>T (p.Ala1281Ser)
c.3802G>T (p.Ala1268Ser)
c.3751G>T (p.Ala1251Ser)
c.883G>T (p.Ala295Ser)
 gnomAD v4
18g.33743768C>ACA402188816ASXL3c.3923C>A (p.Ala1308Asp)
c.3920C>A (p.Ala1307Asp)
c.3800C>A (p.Ala1267Asp)
c.3896C>A (p.Ala1299Asp)
c.3842C>A (p.Ala1281Asp)
c.3803C>A (p.Ala1268Asp)
c.3752C>A (p.Ala1251Asp)
c.884C>A (p.Ala295Asp)
18g.33743768C>GCA402188818ASXL3c.3923C>G (p.Ala1308Gly)
c.3920C>G (p.Ala1307Gly)
c.3800C>G (p.Ala1267Gly)
c.3896C>G (p.Ala1299Gly)
c.3842C>G (p.Ala1281Gly)
c.3803C>G (p.Ala1268Gly)
c.3752C>G (p.Ala1251Gly)
c.884C>G (p.Ala295Gly)
18g.33743768C>TCA402188821ASXL3c.3923C>T (p.Ala1308Val)
c.3920C>T (p.Ala1307Val)
c.3800C>T (p.Ala1267Val)
c.3896C>T (p.Ala1299Val)
c.3842C>T (p.Ala1281Val)
c.3803C>T (p.Ala1268Val)
c.3752C>T (p.Ala1251Val)
c.884C>T (p.Ala295Val)
18g.33743769C>ACA503769974ASXL3c.3924C>A (p.Ala1308=)
c.3921C>A (p.Ala1307=)
c.3801C>A (p.Ala1267=)
c.3897C>A (p.Ala1299=)
c.3843C>A (p.Ala1281=)
c.3804C>A (p.Ala1268=)
c.3753C>A (p.Ala1251=)
c.885C>A (p.Ala295=)
18g.33743769C=CA2294857832ASXL3c.3924C= (p.Ala1308=)
c.3921C= (p.Ala1307=)
c.3801C= (p.Ala1267=)
c.3897C= (p.Ala1299=)
c.3843C= (p.Ala1281=)
c.3804C= (p.Ala1268=)
c.3753C= (p.Ala1251=)
c.885C= (p.Ala295=)
18g.33743769C>GCA503769976ASXL3c.3924C>G (p.Ala1308=)
c.3921C>G (p.Ala1307=)
c.3801C>G (p.Ala1267=)
c.3897C>G (p.Ala1299=)
c.3843C>G (p.Ala1281=)
c.3804C>G (p.Ala1268=)
c.3753C>G (p.Ala1251=)
c.885C>G (p.Ala295=)
 gnomAD v4
18g.33743769C>TCA503769978ASXL3c.3924C>T (p.Ala1308=)
c.3921C>T (p.Ala1307=)
c.3801C>T (p.Ala1267=)
c.3897C>T (p.Ala1299=)
c.3843C>T (p.Ala1281=)
c.3804C>T (p.Ala1268=)
c.3753C>T (p.Ala1251=)
c.885C>T (p.Ala295=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743770A>CCA402188832ASXL3c.3925A>C (p.Thr1309Pro)
c.3922A>C (p.Thr1308Pro)
c.3802A>C (p.Thr1268Pro)
c.3898A>C (p.Thr1300Pro)
c.3844A>C (p.Thr1282Pro)
c.3805A>C (p.Thr1269Pro)
c.3754A>C (p.Thr1252Pro)
c.886A>C (p.Thr296Pro)
18g.33743770A>GCA402188826ASXL3c.3925A>G (p.Thr1309Ala)
c.3922A>G (p.Thr1308Ala)
c.3802A>G (p.Thr1268Ala)
c.3898A>G (p.Thr1300Ala)
c.3844A>G (p.Thr1282Ala)
c.3805A>G (p.Thr1269Ala)
c.3754A>G (p.Thr1252Ala)
c.886A>G (p.Thr296Ala)
18g.33743770A>TCA402188830ASXL3c.3925A>T (p.Thr1309Ser)
c.3922A>T (p.Thr1308Ser)
c.3802A>T (p.Thr1268Ser)
c.3898A>T (p.Thr1300Ser)
c.3844A>T (p.Thr1282Ser)
c.3805A>T (p.Thr1269Ser)
c.3754A>T (p.Thr1252Ser)
c.886A>T (p.Thr296Ser)
18g.33743771C>ACA402188835ASXL3c.3926C>A (p.Thr1309Asn)
c.3923C>A (p.Thr1308Asn)
c.3803C>A (p.Thr1268Asn)
c.3899C>A (p.Thr1300Asn)
c.3845C>A (p.Thr1282Asn)
c.3806C>A (p.Thr1269Asn)
c.3755C>A (p.Thr1252Asn)
c.887C>A (p.Thr296Asn)
18g.33743771C>GCA402188841ASXL3c.3926C>G (p.Thr1309Ser)
c.3923C>G (p.Thr1308Ser)
c.3803C>G (p.Thr1268Ser)
c.3899C>G (p.Thr1300Ser)
c.3845C>G (p.Thr1282Ser)
c.3806C>G (p.Thr1269Ser)
c.3755C>G (p.Thr1252Ser)
c.887C>G (p.Thr296Ser)
18g.33743771C>TCA402188838ASXL3c.3926C>T (p.Thr1309Ile)
c.3923C>T (p.Thr1308Ile)
c.3803C>T (p.Thr1268Ile)
c.3899C>T (p.Thr1300Ile)
c.3845C>T (p.Thr1282Ile)
c.3806C>T (p.Thr1269Ile)
c.3755C>T (p.Thr1252Ile)
c.887C>T (p.Thr296Ile)
 gnomAD v4
18g.33743772T>ACA503769983ASXL3c.3927T>A (p.Thr1309=)
c.3924T>A (p.Thr1308=)
c.3804T>A (p.Thr1268=)
c.3900T>A (p.Thr1300=)
c.3846T>A (p.Thr1282=)
c.3807T>A (p.Thr1269=)
c.3756T>A (p.Thr1252=)
c.888T>A (p.Thr296=)
18g.33743772T>CCA503769986ASXL3c.3927T>C (p.Thr1309=)
c.3924T>C (p.Thr1308=)
c.3804T>C (p.Thr1268=)
c.3900T>C (p.Thr1300=)
c.3846T>C (p.Thr1282=)
c.3807T>C (p.Thr1269=)
c.3756T>C (p.Thr1252=)
c.888T>C (p.Thr296=)
18g.33743772T>GCA503769989ASXL3c.3927T>G (p.Thr1309=)
c.3924T>G (p.Thr1308=)
c.3804T>G (p.Thr1268=)
c.3900T>G (p.Thr1300=)
c.3846T>G (p.Thr1282=)
c.3807T>G (p.Thr1269=)
c.3756T>G (p.Thr1252=)
c.888T>G (p.Thr296=)
18g.33743772_33743773delCA2542545564ASXL3c.3927_3928del (p.Thr1310ArgfsTer11)
c.3924_3925del (p.Thr1309ArgfsTer11)
c.3804_3805del (p.Thr1269ArgfsTer11)
c.3900_3901del (p.Thr1301ArgfsTer11)
c.3846_3847del (p.Thr1283ArgfsTer11)
c.3807_3808del (p.Thr1270ArgfsTer11)
c.3756_3757del (p.Thr1253ArgfsTer11)
c.888_889del (p.Thr297ArgfsTer11)
18g.33743773A=CA2294857833ASXL3c.3928A= (p.Thr1310=)
c.3925A= (p.Thr1309=)
c.3805A= (p.Thr1269=)
c.3901A= (p.Thr1301=)
c.3847A= (p.Thr1283=)
c.3808A= (p.Thr1270=)
c.3757A= (p.Thr1253=)
c.889A= (p.Thr297=)
18g.33743773A>CCA402188845ASXL3c.3928A>C (p.Thr1310Pro)
c.3925A>C (p.Thr1309Pro)
c.3805A>C (p.Thr1269Pro)
c.3901A>C (p.Thr1301Pro)
c.3847A>C (p.Thr1283Pro)
c.3808A>C (p.Thr1270Pro)
c.3757A>C (p.Thr1253Pro)
c.889A>C (p.Thr297Pro)
18g.33743773A>GCA8934140ASXL3c.3928A>G (p.Thr1310Ala)
c.3925A>G (p.Thr1309Ala)
c.3805A>G (p.Thr1269Ala)
c.3901A>G (p.Thr1301Ala)
c.3847A>G (p.Thr1283Ala)
c.3808A>G (p.Thr1270Ala)
c.3757A>G (p.Thr1253Ala)
c.889A>G (p.Thr297Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743773A>TCA402188847ASXL3c.3928A>T (p.Thr1310Ser)
c.3925A>T (p.Thr1309Ser)
c.3805A>T (p.Thr1269Ser)
c.3901A>T (p.Thr1301Ser)
c.3847A>T (p.Thr1283Ser)
c.3808A>T (p.Thr1270Ser)
c.3757A>T (p.Thr1253Ser)
c.889A>T (p.Thr297Ser)
18g.33743774C>ACA402188853ASXL3c.3929C>A (p.Thr1310Lys)
c.3926C>A (p.Thr1309Lys)
c.3806C>A (p.Thr1269Lys)
c.3902C>A (p.Thr1301Lys)
c.3848C>A (p.Thr1283Lys)
c.3809C>A (p.Thr1270Lys)
c.3758C>A (p.Thr1253Lys)
c.890C>A (p.Thr297Lys)
18g.33743774C>GCA402188855ASXL3c.3929C>G (p.Thr1310Arg)
c.3926C>G (p.Thr1309Arg)
c.3806C>G (p.Thr1269Arg)
c.3902C>G (p.Thr1301Arg)
c.3848C>G (p.Thr1283Arg)
c.3809C>G (p.Thr1270Arg)
c.3758C>G (p.Thr1253Arg)
c.890C>G (p.Thr297Arg)
 gnomAD v4
18g.33743774C>TCA402188857ASXL3c.3929C>T (p.Thr1310Ile)
c.3926C>T (p.Thr1309Ile)
c.3806C>T (p.Thr1269Ile)
c.3902C>T (p.Thr1301Ile)
c.3848C>T (p.Thr1283Ile)
c.3809C>T (p.Thr1270Ile)
c.3758C>T (p.Thr1253Ile)
c.890C>T (p.Thr297Ile)
18g.33743775A>CCA503769997ASXL3c.3930A>C (p.Thr1310=)
c.3927A>C (p.Thr1309=)
c.3807A>C (p.Thr1269=)
c.3903A>C (p.Thr1301=)
c.3849A>C (p.Thr1283=)
c.3810A>C (p.Thr1270=)
c.3759A>C (p.Thr1253=)
c.891A>C (p.Thr297=)
18g.33743775A>GCA503769999ASXL3c.3930A>G (p.Thr1310=)
c.3927A>G (p.Thr1309=)
c.3807A>G (p.Thr1269=)
c.3903A>G (p.Thr1301=)
c.3849A>G (p.Thr1283=)
c.3810A>G (p.Thr1270=)
c.3759A>G (p.Thr1253=)
c.891A>G (p.Thr297=)
18g.33743775A>TCA503770001ASXL3c.3930A>T (p.Thr1310=)
c.3927A>T (p.Thr1309=)
c.3807A>T (p.Thr1269=)
c.3903A>T (p.Thr1301=)
c.3849A>T (p.Thr1283=)
c.3810A>T (p.Thr1270=)
c.3759A>T (p.Thr1253=)
c.891A>T (p.Thr297=)
18g.33743775_33743776insAGCA2566674930ASXL3c.3930_3931insAG (p.Glu1311ArgfsTer16)
c.3927_3928insAG (p.Glu1310ArgfsTer16)
c.3807_3808insAG (p.Glu1270ArgfsTer16)
c.3903_3904insAG (p.Glu1302ArgfsTer16)
c.3849_3850insAG (p.Glu1284ArgfsTer16)
c.3810_3811insAG (p.Glu1271ArgfsTer16)
c.3759_3760insAG (p.Glu1254ArgfsTer16)
c.891_892insAG (p.Glu298ArgfsTer16)
18g.33743776G>ACA402188860ASXL3c.3931G>A (p.Glu1311Lys)
c.3928G>A (p.Glu1310Lys)
c.3808G>A (p.Glu1270Lys)
c.3904G>A (p.Glu1302Lys)
c.3850G>A (p.Glu1284Lys)
c.3811G>A (p.Glu1271Lys)
c.3760G>A (p.Glu1254Lys)
c.892G>A (p.Glu298Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
18g.33743776G>CCA402188863ASXL3c.3931G>C (p.Glu1311Gln)
c.3928G>C (p.Glu1310Gln)
c.3808G>C (p.Glu1270Gln)
c.3904G>C (p.Glu1302Gln)
c.3850G>C (p.Glu1284Gln)
c.3811G>C (p.Glu1271Gln)
c.3760G>C (p.Glu1254Gln)
c.892G>C (p.Glu298Gln)
18g.33743776G=CA2294857834ASXL3c.3931G= (p.Glu1311=)
c.3928G= (p.Glu1310=)
c.3808G= (p.Glu1270=)
c.3904G= (p.Glu1302=)
c.3850G= (p.Glu1284=)
c.3811G= (p.Glu1271=)
c.3760G= (p.Glu1254=)
c.892G= (p.Glu298=)
18g.33743776G>TCA402188865ASXL3c.3931G>T (p.Glu1311Ter)
c.3928G>T (p.Glu1310Ter)
c.3808G>T (p.Glu1270Ter)
c.3904G>T (p.Glu1302Ter)
c.3850G>T (p.Glu1284Ter)
c.3811G>T (p.Glu1271Ter)
c.3760G>T (p.Glu1254Ter)
c.892G>T (p.Glu298Ter)
18g.33743777A=CA2294857835ASXL3c.3932A= (p.Glu1311=)
c.3929A= (p.Glu1310=)
c.3809A= (p.Glu1270=)
c.3905A= (p.Glu1302=)
c.3851A= (p.Glu1284=)
c.3812A= (p.Glu1271=)
c.3761A= (p.Glu1254=)
c.893A= (p.Glu298=)
18g.33743777A>CCA8934141ASXL3c.3932A>C (p.Glu1311Ala)
c.3929A>C (p.Glu1310Ala)
c.3809A>C (p.Glu1270Ala)
c.3905A>C (p.Glu1302Ala)
c.3851A>C (p.Glu1284Ala)
c.3812A>C (p.Glu1271Ala)
c.3761A>C (p.Glu1254Ala)
c.893A>C (p.Glu298Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743777A>GCA402188872ASXL3c.3932A>G (p.Glu1311Gly)
c.3929A>G (p.Glu1310Gly)
c.3809A>G (p.Glu1270Gly)
c.3905A>G (p.Glu1302Gly)
c.3851A>G (p.Glu1284Gly)
c.3812A>G (p.Glu1271Gly)
c.3761A>G (p.Glu1254Gly)
c.893A>G (p.Glu298Gly)
 dbSNP gnomAD v3 gnomAD v4
18g.33743777A>TCA402188874ASXL3c.3932A>T (p.Glu1311Val)
c.3929A>T (p.Glu1310Val)
c.3809A>T (p.Glu1270Val)
c.3905A>T (p.Glu1302Val)
c.3851A>T (p.Glu1284Val)
c.3812A>T (p.Glu1271Val)
c.3761A>T (p.Glu1254Val)
c.893A>T (p.Glu298Val)
18g.33743778G>ACA503770004ASXL3c.3933G>A (p.Glu1311=)
c.3930G>A (p.Glu1310=)
c.3810G>A (p.Glu1270=)
c.3906G>A (p.Glu1302=)
c.3852G>A (p.Glu1284=)
c.3813G>A (p.Glu1271=)
c.3762G>A (p.Glu1254=)
c.894G>A (p.Glu298=)
 dbSNP
18g.33743778G>CCA402188877ASXL3c.3933G>C (p.Glu1311Asp)
c.3930G>C (p.Glu1310Asp)
c.3810G>C (p.Glu1270Asp)
c.3906G>C (p.Glu1302Asp)
c.3852G>C (p.Glu1284Asp)
c.3813G>C (p.Glu1271Asp)
c.3762G>C (p.Glu1254Asp)
c.894G>C (p.Glu298Asp)
18g.33743778G=CA2294857836ASXL3c.3933G= (p.Glu1311=)
c.3930G= (p.Glu1310=)
c.3810G= (p.Glu1270=)
c.3906G= (p.Glu1302=)
c.3852G= (p.Glu1284=)
c.3813G= (p.Glu1271=)
c.3762G= (p.Glu1254=)
c.894G= (p.Glu298=)
18g.33743778G>TCA402188878ASXL3c.3933G>T (p.Glu1311Asp)
c.3930G>T (p.Glu1310Asp)
c.3810G>T (p.Glu1270Asp)
c.3906G>T (p.Glu1302Asp)
c.3852G>T (p.Glu1284Asp)
c.3813G>T (p.Glu1271Asp)
c.3762G>T (p.Glu1254Asp)
c.894G>T (p.Glu298Asp)
18g.33743779G>ACA402188879ASXL3c.3934G>A (p.Gly1312Ser)
c.3931G>A (p.Gly1311Ser)
c.3811G>A (p.Gly1271Ser)
c.3907G>A (p.Gly1303Ser)
c.3853G>A (p.Gly1285Ser)
c.3814G>A (p.Gly1272Ser)
c.3763G>A (p.Gly1255Ser)
c.895G>A (p.Gly299Ser)
 gnomAD v4
18g.33743779G>CCA402188880ASXL3c.3934G>C (p.Gly1312Arg)
c.3931G>C (p.Gly1311Arg)
c.3811G>C (p.Gly1271Arg)
c.3907G>C (p.Gly1303Arg)
c.3853G>C (p.Gly1285Arg)
c.3814G>C (p.Gly1272Arg)
c.3763G>C (p.Gly1255Arg)
c.895G>C (p.Gly299Arg)
18g.33743779G>TCA402188882ASXL3c.3934G>T (p.Gly1312Cys)
c.3931G>T (p.Gly1311Cys)
c.3811G>T (p.Gly1271Cys)
c.3907G>T (p.Gly1303Cys)
c.3853G>T (p.Gly1285Cys)
c.3814G>T (p.Gly1272Cys)
c.3763G>T (p.Gly1255Cys)
c.895G>T (p.Gly299Cys)
18g.33743780G>ACA8934142ASXL3c.3935G>A (p.Gly1312Asp)
c.3932G>A (p.Gly1311Asp)
c.3812G>A (p.Gly1271Asp)
c.3908G>A (p.Gly1303Asp)
c.3854G>A (p.Gly1285Asp)
c.3815G>A (p.Gly1272Asp)
c.3764G>A (p.Gly1255Asp)
c.896G>A (p.Gly299Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743780G>CCA402188884ASXL3c.3935G>C (p.Gly1312Ala)
c.3932G>C (p.Gly1311Ala)
c.3812G>C (p.Gly1271Ala)
c.3908G>C (p.Gly1303Ala)
c.3854G>C (p.Gly1285Ala)
c.3815G>C (p.Gly1272Ala)
c.3764G>C (p.Gly1255Ala)
c.896G>C (p.Gly299Ala)
18g.33743780G=CA2294857837ASXL3c.3935G= (p.Gly1312=)
c.3932G= (p.Gly1311=)
c.3812G= (p.Gly1271=)
c.3908G= (p.Gly1303=)
c.3854G= (p.Gly1285=)
c.3815G= (p.Gly1272=)
c.3764G= (p.Gly1255=)
c.896G= (p.Gly299=)
18g.33743780G>TCA402188886ASXL3c.3935G>T (p.Gly1312Val)
c.3932G>T (p.Gly1311Val)
c.3812G>T (p.Gly1271Val)
c.3908G>T (p.Gly1303Val)
c.3854G>T (p.Gly1285Val)
c.3815G>T (p.Gly1272Val)
c.3764G>T (p.Gly1255Val)
c.896G>T (p.Gly299Val)
18g.33743781C>ACA503770016ASXL3c.3936C>A (p.Gly1312=)
c.3933C>A (p.Gly1311=)
c.3813C>A (p.Gly1271=)
c.3909C>A (p.Gly1303=)
c.3855C>A (p.Gly1285=)
c.3816C>A (p.Gly1272=)
c.3765C>A (p.Gly1255=)
c.897C>A (p.Gly299=)
 COSMIC
18g.33743781C=CA2294857838ASXL3c.3936C= (p.Gly1312=)
c.3933C= (p.Gly1311=)
c.3813C= (p.Gly1271=)
c.3909C= (p.Gly1303=)
c.3855C= (p.Gly1285=)
c.3816C= (p.Gly1272=)
c.3765C= (p.Gly1255=)
c.897C= (p.Gly299=)
18g.33743781C>GCA503770021ASXL3c.3936C>G (p.Gly1312=)
c.3933C>G (p.Gly1311=)
c.3813C>G (p.Gly1271=)
c.3909C>G (p.Gly1303=)
c.3855C>G (p.Gly1285=)
c.3816C>G (p.Gly1272=)
c.3765C>G (p.Gly1255=)
c.897C>G (p.Gly299=)
18g.33743781C>TCA503770018ASXL3c.3936C>T (p.Gly1312=)
c.3933C>T (p.Gly1311=)
c.3813C>T (p.Gly1271=)
c.3909C>T (p.Gly1303=)
c.3855C>T (p.Gly1285=)
c.3816C>T (p.Gly1272=)
c.3765C>T (p.Gly1255=)
c.897C>T (p.Gly299=)
 dbSNP gnomAD v3 gnomAD v4
18g.33743782T>ACA402188890ASXL3c.3937T>A (p.Ser1313Thr)
c.3934T>A (p.Ser1312Thr)
c.3814T>A (p.Ser1272Thr)
c.3910T>A (p.Ser1304Thr)
c.3856T>A (p.Ser1286Thr)
c.3817T>A (p.Ser1273Thr)
c.3766T>A (p.Ser1256Thr)
c.898T>A (p.Ser300Thr)
18g.33743782T>CCA402188892ASXL3c.3937T>C (p.Ser1313Pro)
c.3934T>C (p.Ser1312Pro)
c.3814T>C (p.Ser1272Pro)
c.3910T>C (p.Ser1304Pro)
c.3856T>C (p.Ser1286Pro)
c.3817T>C (p.Ser1273Pro)
c.3766T>C (p.Ser1256Pro)
c.898T>C (p.Ser300Pro)
18g.33743782T>GCA402188896ASXL3c.3937T>G (p.Ser1313Ala)
c.3934T>G (p.Ser1312Ala)
c.3814T>G (p.Ser1272Ala)
c.3910T>G (p.Ser1304Ala)
c.3856T>G (p.Ser1286Ala)
c.3817T>G (p.Ser1273Ala)
c.3766T>G (p.Ser1256Ala)
c.898T>G (p.Ser300Ala)
18g.33743783C>ACA402188899ASXL3c.3938C>A (p.Ser1313Tyr)
c.3935C>A (p.Ser1312Tyr)
c.3815C>A (p.Ser1272Tyr)
c.3911C>A (p.Ser1304Tyr)
c.3857C>A (p.Ser1286Tyr)
c.3818C>A (p.Ser1273Tyr)
c.3767C>A (p.Ser1256Tyr)
c.899C>A (p.Ser300Tyr)
18g.33743783C=CA2294857839ASXL3c.3938C= (p.Ser1313=)
c.3935C= (p.Ser1312=)
c.3815C= (p.Ser1272=)
c.3911C= (p.Ser1304=)
c.3857C= (p.Ser1286=)
c.3818C= (p.Ser1273=)
c.3767C= (p.Ser1256=)
c.899C= (p.Ser300=)
18g.33743783C>GCA402188901ASXL3c.3938C>G (p.Ser1313Cys)
c.3935C>G (p.Ser1312Cys)
c.3815C>G (p.Ser1272Cys)
c.3911C>G (p.Ser1304Cys)
c.3857C>G (p.Ser1286Cys)
c.3818C>G (p.Ser1273Cys)
c.3767C>G (p.Ser1256Cys)
c.899C>G (p.Ser300Cys)
 gnomAD v4
18g.33743783C>TCA402188904ASXL3c.3938C>T (p.Ser1313Phe)
c.3935C>T (p.Ser1312Phe)
c.3815C>T (p.Ser1272Phe)
c.3911C>T (p.Ser1304Phe)
c.3857C>T (p.Ser1286Phe)
c.3818C>T (p.Ser1273Phe)
c.3767C>T (p.Ser1256Phe)
c.899C>T (p.Ser300Phe)
 dbSNP
18g.33743784delCA645603028ASXL3c.3939del (p.Ser1314AlafsTer12)
c.3936del (p.Ser1313AlafsTer12)
c.3816del (p.Ser1273AlafsTer12)
c.3912del (p.Ser1305AlafsTer12)
c.3858del (p.Ser1287AlafsTer12)
c.3819del (p.Ser1274AlafsTer12)
c.3768del (p.Ser1257AlafsTer12)
c.900del (p.Ser301AlafsTer12)
 COSMIC
18g.33743784C>ACA503770031ASXL3c.3939C>A (p.Ser1313=)
c.3936C>A (p.Ser1312=)
c.3816C>A (p.Ser1272=)
c.3912C>A (p.Ser1304=)
c.3858C>A (p.Ser1286=)
c.3819C>A (p.Ser1273=)
c.3768C>A (p.Ser1256=)
c.900C>A (p.Ser300=)
18g.33743784C>GCA503770032ASXL3c.3939C>G (p.Ser1313=)
c.3936C>G (p.Ser1312=)
c.3816C>G (p.Ser1272=)
c.3912C>G (p.Ser1304=)
c.3858C>G (p.Ser1286=)
c.3819C>G (p.Ser1273=)
c.3768C>G (p.Ser1256=)
c.900C>G (p.Ser300=)
18g.33743784C>TCA503770033ASXL3c.3939C>T (p.Ser1313=)
c.3936C>T (p.Ser1312=)
c.3816C>T (p.Ser1272=)
c.3912C>T (p.Ser1304=)
c.3858C>T (p.Ser1286=)
c.3819C>T (p.Ser1273=)
c.3768C>T (p.Ser1256=)
c.900C>T (p.Ser300=)
 gnomAD v4
18g.33743785A=CA2294857840ASXL3c.3940A= (p.Ser1314=)
c.3937A= (p.Ser1313=)
c.3817A= (p.Ser1273=)
c.3913A= (p.Ser1305=)
c.3859A= (p.Ser1287=)
c.3820A= (p.Ser1274=)
c.3769A= (p.Ser1257=)
c.901A= (p.Ser301=)
18g.33743785A>CCA297793231ASXL3c.3940A>C (p.Ser1314Arg)
c.3937A>C (p.Ser1313Arg)
c.3817A>C (p.Ser1273Arg)
c.3913A>C (p.Ser1305Arg)
c.3859A>C (p.Ser1287Arg)
c.3820A>C (p.Ser1274Arg)
c.3769A>C (p.Ser1257Arg)
c.901A>C (p.Ser301Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743785A>GCA402188916ASXL3c.3940A>G (p.Ser1314Gly)
c.3937A>G (p.Ser1313Gly)
c.3817A>G (p.Ser1273Gly)
c.3913A>G (p.Ser1305Gly)
c.3859A>G (p.Ser1287Gly)
c.3820A>G (p.Ser1274Gly)
c.3769A>G (p.Ser1257Gly)
c.901A>G (p.Ser301Gly)
18g.33743785A>TCA402188912ASXL3c.3940A>T (p.Ser1314Cys)
c.3937A>T (p.Ser1313Cys)
c.3817A>T (p.Ser1273Cys)
c.3913A>T (p.Ser1305Cys)
c.3859A>T (p.Ser1287Cys)
c.3820A>T (p.Ser1274Cys)
c.3769A>T (p.Ser1257Cys)
c.901A>T (p.Ser301Cys)
18g.33743786G>ACA402188920ASXL3c.3941G>A (p.Ser1314Asn)
c.3938G>A (p.Ser1313Asn)
c.3818G>A (p.Ser1273Asn)
c.3914G>A (p.Ser1305Asn)
c.3860G>A (p.Ser1287Asn)
c.3821G>A (p.Ser1274Asn)
c.3770G>A (p.Ser1257Asn)
c.902G>A (p.Ser301Asn)
18g.33743786G>CCA402188925ASXL3c.3941G>C (p.Ser1314Thr)
c.3938G>C (p.Ser1313Thr)
c.3818G>C (p.Ser1273Thr)
c.3914G>C (p.Ser1305Thr)
c.3860G>C (p.Ser1287Thr)
c.3821G>C (p.Ser1274Thr)
c.3770G>C (p.Ser1257Thr)
c.902G>C (p.Ser301Thr)
18g.33743786G>TCA402188923ASXL3c.3941G>T (p.Ser1314Ile)
c.3938G>T (p.Ser1313Ile)
c.3818G>T (p.Ser1273Ile)
c.3914G>T (p.Ser1305Ile)
c.3860G>T (p.Ser1287Ile)
c.3821G>T (p.Ser1274Ile)
c.3770G>T (p.Ser1257Ile)
c.902G>T (p.Ser301Ile)
 gnomAD v4
18g.33743787C>ACA402188927ASXL3c.3942C>A (p.Ser1314Arg)
c.3939C>A (p.Ser1313Arg)
c.3819C>A (p.Ser1273Arg)
c.3915C>A (p.Ser1305Arg)
c.3861C>A (p.Ser1287Arg)
c.3822C>A (p.Ser1274Arg)
c.3771C>A (p.Ser1257Arg)
c.903C>A (p.Ser301Arg)
18g.33743787C>GCA402188931ASXL3c.3942C>G (p.Ser1314Arg)
c.3939C>G (p.Ser1313Arg)
c.3819C>G (p.Ser1273Arg)
c.3915C>G (p.Ser1305Arg)
c.3861C>G (p.Ser1287Arg)
c.3822C>G (p.Ser1274Arg)
c.3771C>G (p.Ser1257Arg)
c.903C>G (p.Ser301Arg)
18g.33743787C>TCA503770047ASXL3c.3942C>T (p.Ser1314=)
c.3939C>T (p.Ser1313=)
c.3819C>T (p.Ser1273=)
c.3915C>T (p.Ser1305=)
c.3861C>T (p.Ser1287=)
c.3822C>T (p.Ser1274=)
c.3771C>T (p.Ser1257=)
c.903C>T (p.Ser301=)
18g.33743788A=CA2294857841ASXL3c.3943A= (p.Ile1315=)
c.3940A= (p.Ile1314=)
c.3820A= (p.Ile1274=)
c.3916A= (p.Ile1306=)
c.3862A= (p.Ile1288=)
c.3823A= (p.Ile1275=)
c.3772A= (p.Ile1258=)
c.904A= (p.Ile302=)
18g.33743788A>CCA402188935ASXL3c.3943A>C (p.Ile1315Leu)
c.3940A>C (p.Ile1314Leu)
c.3820A>C (p.Ile1274Leu)
c.3916A>C (p.Ile1306Leu)
c.3862A>C (p.Ile1288Leu)
c.3823A>C (p.Ile1275Leu)
c.3772A>C (p.Ile1258Leu)
c.904A>C (p.Ile302Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743788A>GCA8934143ASXL3c.3943A>G (p.Ile1315Val)
c.3940A>G (p.Ile1314Val)
c.3820A>G (p.Ile1274Val)
c.3916A>G (p.Ile1306Val)
c.3862A>G (p.Ile1288Val)
c.3823A>G (p.Ile1275Val)
c.3772A>G (p.Ile1258Val)
c.904A>G (p.Ile302Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743788A>TCA402188938ASXL3c.3943A>T (p.Ile1315Leu)
c.3940A>T (p.Ile1314Leu)
c.3820A>T (p.Ile1274Leu)
c.3916A>T (p.Ile1306Leu)
c.3862A>T (p.Ile1288Leu)
c.3823A>T (p.Ile1275Leu)
c.3772A>T (p.Ile1258Leu)
c.904A>T (p.Ile302Leu)
18g.33743788_33743791delCA2535609441ASXL3c.3943_3946del (p.Ile1315GlnfsTer10)
c.3940_3943del (p.Ile1314GlnfsTer10)
c.3820_3823del (p.Ile1274GlnfsTer10)
c.3916_3919del (p.Ile1306GlnfsTer10)
c.3862_3865del (p.Ile1288GlnfsTer10)
c.3823_3826del (p.Ile1275GlnfsTer10)
c.3772_3775del (p.Ile1258GlnfsTer10)
c.904_907del (p.Ile302GlnfsTer10)
18g.33743789T>ACA402188941ASXL3c.3944T>A (p.Ile1315Lys)
c.3941T>A (p.Ile1314Lys)
c.3821T>A (p.Ile1274Lys)
c.3917T>A (p.Ile1306Lys)
c.3863T>A (p.Ile1288Lys)
c.3824T>A (p.Ile1275Lys)
c.3773T>A (p.Ile1258Lys)
c.905T>A (p.Ile302Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743789T>CCA402188943ASXL3c.3944T>C (p.Ile1315Thr)
c.3941T>C (p.Ile1314Thr)
c.3821T>C (p.Ile1274Thr)
c.3917T>C (p.Ile1306Thr)
c.3863T>C (p.Ile1288Thr)
c.3824T>C (p.Ile1275Thr)
c.3773T>C (p.Ile1258Thr)
c.905T>C (p.Ile302Thr)
 dbSNP gnomAD v4
18g.33743789T>GCA402188945ASXL3c.3944T>G (p.Ile1315Arg)
c.3941T>G (p.Ile1314Arg)
c.3821T>G (p.Ile1274Arg)
c.3917T>G (p.Ile1306Arg)
c.3863T>G (p.Ile1288Arg)
c.3824T>G (p.Ile1275Arg)
c.3773T>G (p.Ile1258Arg)
c.905T>G (p.Ile302Arg)
18g.33743789T=CA2294857842ASXL3c.3944T= (p.Ile1315=)
c.3941T= (p.Ile1314=)
c.3821T= (p.Ile1274=)
c.3917T= (p.Ile1306=)
c.3863T= (p.Ile1288=)
c.3824T= (p.Ile1275=)
c.3773T= (p.Ile1258=)
c.905T= (p.Ile302=)
18g.33743790A=CA2294857843ASXL3c.3945A= (p.Ile1315=)
c.3942A= (p.Ile1314=)
c.3822A= (p.Ile1274=)
c.3918A= (p.Ile1306=)
c.3864A= (p.Ile1288=)
c.3825A= (p.Ile1275=)
c.3774A= (p.Ile1258=)
c.906A= (p.Ile302=)
18g.33743790A>CCA503770054ASXL3c.3945A>C (p.Ile1315=)
c.3942A>C (p.Ile1314=)
c.3822A>C (p.Ile1274=)
c.3918A>C (p.Ile1306=)
c.3864A>C (p.Ile1288=)
c.3825A>C (p.Ile1275=)
c.3774A>C (p.Ile1258=)
c.906A>C (p.Ile302=)
18g.33743790A>GCA402188947ASXL3c.3945A>G (p.Ile1315Met)
c.3942A>G (p.Ile1314Met)
c.3822A>G (p.Ile1274Met)
c.3918A>G (p.Ile1306Met)
c.3864A>G (p.Ile1288Met)
c.3825A>G (p.Ile1275Met)
c.3774A>G (p.Ile1258Met)
c.906A>G (p.Ile302Met)
 dbSNP
18g.33743790A>TCA503770056ASXL3c.3945A>T (p.Ile1315=)
c.3942A>T (p.Ile1314=)
c.3822A>T (p.Ile1274=)
c.3918A>T (p.Ile1306=)
c.3864A>T (p.Ile1288=)
c.3825A>T (p.Ile1275=)
c.3774A>T (p.Ile1258=)
c.906A>T (p.Ile302=)
18g.33743791T>ACA402188950ASXL3c.3946T>A (p.Ser1316Thr)
c.3943T>A (p.Ser1315Thr)
c.3823T>A (p.Ser1275Thr)
c.3919T>A (p.Ser1307Thr)
c.3865T>A (p.Ser1289Thr)
c.3826T>A (p.Ser1276Thr)
c.3775T>A (p.Ser1259Thr)
c.907T>A (p.Ser303Thr)
18g.33743791T>CCA402188954ASXL3c.3946T>C (p.Ser1316Pro)
c.3943T>C (p.Ser1315Pro)
c.3823T>C (p.Ser1275Pro)
c.3919T>C (p.Ser1307Pro)
c.3865T>C (p.Ser1289Pro)
c.3826T>C (p.Ser1276Pro)
c.3775T>C (p.Ser1259Pro)
c.907T>C (p.Ser303Pro)
18g.33743791T>GCA402188957ASXL3c.3946T>G (p.Ser1316Ala)
c.3943T>G (p.Ser1315Ala)
c.3823T>G (p.Ser1275Ala)
c.3919T>G (p.Ser1307Ala)
c.3865T>G (p.Ser1289Ala)
c.3826T>G (p.Ser1276Ala)
c.3775T>G (p.Ser1259Ala)
c.907T>G (p.Ser303Ala)
18g.33743792C>ACA402188965ASXL3c.3947C>A (p.Ser1316Ter)
c.3944C>A (p.Ser1315Ter)
c.3824C>A (p.Ser1275Ter)
c.3920C>A (p.Ser1307Ter)
c.3866C>A (p.Ser1289Ter)
c.3827C>A (p.Ser1276Ter)
c.3776C>A (p.Ser1259Ter)
c.908C>A (p.Ser303Ter)
18g.33743792C=CA2294857844ASXL3c.3947C= (p.Ser1316=)
c.3944C= (p.Ser1315=)
c.3824C= (p.Ser1275=)
c.3920C= (p.Ser1307=)
c.3866C= (p.Ser1289=)
c.3827C= (p.Ser1276=)
c.3776C= (p.Ser1259=)
c.908C= (p.Ser303=)
18g.33743792C>GCA402188961ASXL3c.3947C>G (p.Ser1316Ter)
c.3944C>G (p.Ser1315Ter)
c.3824C>G (p.Ser1275Ter)
c.3920C>G (p.Ser1307Ter)
c.3866C>G (p.Ser1289Ter)
c.3827C>G (p.Ser1276Ter)
c.3776C>G (p.Ser1259Ter)
c.908C>G (p.Ser303Ter)
 ClinVar dbSNP
18g.33743792C>TCA297793237ASXL3c.3947C>T (p.Ser1316Leu)
c.3944C>T (p.Ser1315Leu)
c.3824C>T (p.Ser1275Leu)
c.3920C>T (p.Ser1307Leu)
c.3866C>T (p.Ser1289Leu)
c.3827C>T (p.Ser1276Leu)
c.3776C>T (p.Ser1259Leu)
c.908C>T (p.Ser303Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743793A>CCA503770069ASXL3c.3948A>C (p.Ser1316=)
c.3945A>C (p.Ser1315=)
c.3825A>C (p.Ser1275=)
c.3921A>C (p.Ser1307=)
c.3867A>C (p.Ser1289=)
c.3828A>C (p.Ser1276=)
c.3777A>C (p.Ser1259=)
c.909A>C (p.Ser303=)
18g.33743793A>GCA503770070ASXL3c.3948A>G (p.Ser1316=)
c.3945A>G (p.Ser1315=)
c.3825A>G (p.Ser1275=)
c.3921A>G (p.Ser1307=)
c.3867A>G (p.Ser1289=)
c.3828A>G (p.Ser1276=)
c.3777A>G (p.Ser1259=)
c.909A>G (p.Ser303=)
18g.33743793A>TCA503770071ASXL3c.3948A>T (p.Ser1316=)
c.3945A>T (p.Ser1315=)
c.3825A>T (p.Ser1275=)
c.3921A>T (p.Ser1307=)
c.3867A>T (p.Ser1289=)
c.3828A>T (p.Ser1276=)
c.3777A>T (p.Ser1259=)
c.909A>T (p.Ser303=)
18g.33743793_33743794insGGTGCA2540531965ASXL3c.3948_3949insGGTG (p.Ser1317GlyfsTer6)
c.3945_3946insGGTG (p.Ser1316GlyfsTer6)
c.3825_3826insGGTG (p.Ser1276GlyfsTer6)
c.3921_3922insGGTG (p.Ser1308GlyfsTer6)
c.3867_3868insGGTG (p.Ser1290GlyfsTer6)
c.3828_3829insGGTG (p.Ser1277GlyfsTer6)
c.3777_3778insGGTG (p.Ser1260GlyfsTer6)
c.909_910insGGTG (p.Ser304GlyfsTer6)
18g.33743794A>CCA402188969ASXL3c.3949A>C (p.Ser1317Arg)
c.3946A>C (p.Ser1316Arg)
c.3826A>C (p.Ser1276Arg)
c.3922A>C (p.Ser1308Arg)
c.3868A>C (p.Ser1290Arg)
c.3829A>C (p.Ser1277Arg)
c.3778A>C (p.Ser1260Arg)
c.910A>C (p.Ser304Arg)
18g.33743794A>GCA402188972ASXL3c.3949A>G (p.Ser1317Gly)
c.3946A>G (p.Ser1316Gly)
c.3826A>G (p.Ser1276Gly)
c.3922A>G (p.Ser1308Gly)
c.3868A>G (p.Ser1290Gly)
c.3829A>G (p.Ser1277Gly)
c.3778A>G (p.Ser1260Gly)
c.910A>G (p.Ser304Gly)
 gnomAD v4
18g.33743794A>TCA402188975ASXL3c.3949A>T (p.Ser1317Cys)
c.3946A>T (p.Ser1316Cys)
c.3826A>T (p.Ser1276Cys)
c.3922A>T (p.Ser1308Cys)
c.3868A>T (p.Ser1290Cys)
c.3829A>T (p.Ser1277Cys)
c.3778A>T (p.Ser1260Cys)
c.910A>T (p.Ser304Cys)
18g.33743795G>ACA8934144ASXL3c.3950G>A (p.Ser1317Asn)
c.3947G>A (p.Ser1316Asn)
c.3827G>A (p.Ser1276Asn)
c.3923G>A (p.Ser1308Asn)
c.3869G>A (p.Ser1290Asn)
c.3830G>A (p.Ser1277Asn)
c.3779G>A (p.Ser1260Asn)
c.911G>A (p.Ser304Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743795G>CCA402188982ASXL3c.3950G>C (p.Ser1317Thr)
c.3947G>C (p.Ser1316Thr)
c.3827G>C (p.Ser1276Thr)
c.3923G>C (p.Ser1308Thr)
c.3869G>C (p.Ser1290Thr)
c.3830G>C (p.Ser1277Thr)
c.3779G>C (p.Ser1260Thr)
c.911G>C (p.Ser304Thr)
 gnomAD v4
18g.33743795G=CA2294857845ASXL3c.3950G= (p.Ser1317=)
c.3947G= (p.Ser1316=)
c.3827G= (p.Ser1276=)
c.3923G= (p.Ser1308=)
c.3869G= (p.Ser1290=)
c.3830G= (p.Ser1277=)
c.3779G= (p.Ser1260=)
c.911G= (p.Ser304=)
18g.33743795G>TCA402188984ASXL3c.3950G>T (p.Ser1317Ile)
c.3947G>T (p.Ser1316Ile)
c.3827G>T (p.Ser1276Ile)
c.3923G>T (p.Ser1308Ile)
c.3869G>T (p.Ser1290Ile)
c.3830G>T (p.Ser1277Ile)
c.3779G>T (p.Ser1260Ile)
c.911G>T (p.Ser304Ile)
 gnomAD v4
18g.33743796C>ACA402188986ASXL3c.3951C>A (p.Ser1317Arg)
c.3948C>A (p.Ser1316Arg)
c.3828C>A (p.Ser1276Arg)
c.3924C>A (p.Ser1308Arg)
c.3870C>A (p.Ser1290Arg)
c.3831C>A (p.Ser1277Arg)
c.3780C>A (p.Ser1260Arg)
c.912C>A (p.Ser304Arg)
18g.33743796C=CA2294857846ASXL3c.3951C= (p.Ser1317=)
c.3948C= (p.Ser1316=)
c.3828C= (p.Ser1276=)
c.3924C= (p.Ser1308=)
c.3870C= (p.Ser1290=)
c.3831C= (p.Ser1277=)
c.3780C= (p.Ser1260=)
c.912C= (p.Ser304=)
18g.33743796C>GCA402188989ASXL3c.3951C>G (p.Ser1317Arg)
c.3948C>G (p.Ser1316Arg)
c.3828C>G (p.Ser1276Arg)
c.3924C>G (p.Ser1308Arg)
c.3870C>G (p.Ser1290Arg)
c.3831C>G (p.Ser1277Arg)
c.3780C>G (p.Ser1260Arg)
c.912C>G (p.Ser304Arg)
18g.33743796C>TCA503770077ASXL3c.3951C>T (p.Ser1317=)
c.3948C>T (p.Ser1316=)
c.3828C>T (p.Ser1276=)
c.3924C>T (p.Ser1308=)
c.3870C>T (p.Ser1290=)
c.3831C>T (p.Ser1277=)
c.3780C>T (p.Ser1260=)
c.912C>T (p.Ser304=)
 dbSNP
18g.33743797T>ACA402188993ASXL3c.3952T>A (p.Ser1318Thr)
c.3949T>A (p.Ser1317Thr)
c.3829T>A (p.Ser1277Thr)
c.3925T>A (p.Ser1309Thr)
c.3871T>A (p.Ser1291Thr)
c.3832T>A (p.Ser1278Thr)
c.3781T>A (p.Ser1261Thr)
c.913T>A (p.Ser305Thr)
18g.33743797T>CCA402188996ASXL3c.3952T>C (p.Ser1318Pro)
c.3949T>C (p.Ser1317Pro)
c.3829T>C (p.Ser1277Pro)
c.3925T>C (p.Ser1309Pro)
c.3871T>C (p.Ser1291Pro)
c.3832T>C (p.Ser1278Pro)
c.3781T>C (p.Ser1261Pro)
c.913T>C (p.Ser305Pro)
 gnomAD v4
18g.33743797T>GCA402188999ASXL3c.3952T>G (p.Ser1318Ala)
c.3949T>G (p.Ser1317Ala)
c.3829T>G (p.Ser1277Ala)
c.3925T>G (p.Ser1309Ala)
c.3871T>G (p.Ser1291Ala)
c.3832T>G (p.Ser1278Ala)
c.3781T>G (p.Ser1261Ala)
c.913T>G (p.Ser305Ala)
18g.33743798C>ACA402189007ASXL3c.3953C>A (p.Ser1318Tyr)
c.3950C>A (p.Ser1317Tyr)
c.3830C>A (p.Ser1277Tyr)
c.3926C>A (p.Ser1309Tyr)
c.3872C>A (p.Ser1291Tyr)
c.3833C>A (p.Ser1278Tyr)
c.3782C>A (p.Ser1261Tyr)
c.914C>A (p.Ser305Tyr)
18g.33743798C>GCA402189005ASXL3c.3953C>G (p.Ser1318Cys)
c.3950C>G (p.Ser1317Cys)
c.3830C>G (p.Ser1277Cys)
c.3926C>G (p.Ser1309Cys)
c.3872C>G (p.Ser1291Cys)
c.3833C>G (p.Ser1278Cys)
c.3782C>G (p.Ser1261Cys)
c.914C>G (p.Ser305Cys)
18g.33743798C>TCA402189002ASXL3c.3953C>T (p.Ser1318Phe)
c.3950C>T (p.Ser1317Phe)
c.3830C>T (p.Ser1277Phe)
c.3926C>T (p.Ser1309Phe)
c.3872C>T (p.Ser1291Phe)
c.3833C>T (p.Ser1278Phe)
c.3782C>T (p.Ser1261Phe)
c.914C>T (p.Ser305Phe)
18g.33743799C>ACA503770091ASXL3c.3954C>A (p.Ser1318=)
c.3951C>A (p.Ser1317=)
c.3831C>A (p.Ser1277=)
c.3927C>A (p.Ser1309=)
c.3873C>A (p.Ser1291=)
c.3834C>A (p.Ser1278=)
c.3783C>A (p.Ser1261=)
c.915C>A (p.Ser305=)
18g.33743799C>GCA503770092ASXL3c.3954C>G (p.Ser1318=)
c.3951C>G (p.Ser1317=)
c.3831C>G (p.Ser1277=)
c.3927C>G (p.Ser1309=)
c.3873C>G (p.Ser1291=)
c.3834C>G (p.Ser1278=)
c.3783C>G (p.Ser1261=)
c.915C>G (p.Ser305=)
18g.33743799C>TCA503770094ASXL3c.3954C>T (p.Ser1318=)
c.3951C>T (p.Ser1317=)
c.3831C>T (p.Ser1277=)
c.3927C>T (p.Ser1309=)
c.3873C>T (p.Ser1291=)
c.3834C>T (p.Ser1278=)
c.3783C>T (p.Ser1261=)
c.915C>T (p.Ser305=)
 COSMIC
18g.33743800A=CA2294857847ASXL3c.3955A= (p.Met1319=)
c.3952A= (p.Met1318=)
c.3832A= (p.Met1278=)
c.3928A= (p.Met1310=)
c.3874A= (p.Met1292=)
c.3835A= (p.Met1279=)
c.3784A= (p.Met1262=)
c.916A= (p.Met306=)
18g.33743800A>CCA402189011ASXL3c.3955A>C (p.Met1319Leu)
c.3952A>C (p.Met1318Leu)
c.3832A>C (p.Met1278Leu)
c.3928A>C (p.Met1310Leu)
c.3874A>C (p.Met1292Leu)
c.3835A>C (p.Met1279Leu)
c.3784A>C (p.Met1262Leu)
c.916A>C (p.Met306Leu)
18g.33743800A>GCA8934145ASXL3c.3955A>G (p.Met1319Val)
c.3952A>G (p.Met1318Val)
c.3832A>G (p.Met1278Val)
c.3928A>G (p.Met1310Val)
c.3874A>G (p.Met1292Val)
c.3835A>G (p.Met1279Val)
c.3784A>G (p.Met1262Val)
c.916A>G (p.Met306Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743800A>TCA402189017ASXL3c.3955A>T (p.Met1319Leu)
c.3952A>T (p.Met1318Leu)
c.3832A>T (p.Met1278Leu)
c.3928A>T (p.Met1310Leu)
c.3874A>T (p.Met1292Leu)
c.3835A>T (p.Met1279Leu)
c.3784A>T (p.Met1262Leu)
c.916A>T (p.Met306Leu)

Number of alleles fetched