Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.25742226G>ACA346073943ASXL2c.4108C>T (p.Gln1370Ter)
c.4111C>T (p.Gln1371Ter)
c.4027C>T (p.Gln1343Ter)
c.2560C>T (p.Gln854Ter)
c.3745C>T (p.Gln1249Ter)
c.3331C>T (p.Gln1111Ter)
c.3937C>T (p.Gln1313Ter)
c.4291C>T (p.Gln1431Ter)
2g.25742226G>CCA346073944ASXL2c.4108C>G (p.Gln1370Glu)
c.4111C>G (p.Gln1371Glu)
c.4027C>G (p.Gln1343Glu)
c.2560C>G (p.Gln854Glu)
c.3745C>G (p.Gln1249Glu)
c.3331C>G (p.Gln1111Glu)
c.3937C>G (p.Gln1313Glu)
c.4291C>G (p.Gln1431Glu)
2g.25742226G=CA1239490371ASXL2c.4108C= (p.Gln1370=)
c.4111C= (p.Gln1371=)
c.4027C= (p.Gln1343=)
c.2560C= (p.Gln854=)
c.3745C= (p.Gln1249=)
c.3331C= (p.Gln1111=)
c.3937C= (p.Gln1313=)
c.4291C= (p.Gln1431=)
2g.25742226G>TCA1557360ASXL2c.4108C>A (p.Gln1370Lys)
c.4111C>A (p.Gln1371Lys)
c.4027C>A (p.Gln1343Lys)
c.2560C>A (p.Gln854Lys)
c.3745C>A (p.Gln1249Lys)
c.3331C>A (p.Gln1111Lys)
c.3937C>A (p.Gln1313Lys)
c.4291C>A (p.Gln1431Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742227G>ACA425354311ASXL2c.4107C>T (p.Ser1369=)
c.4110C>T (p.Ser1370=)
c.4026C>T (p.Ser1342=)
c.2559C>T (p.Ser853=)
c.3744C>T (p.Ser1248=)
c.3330C>T (p.Ser1110=)
c.3936C>T (p.Ser1312=)
c.4290C>T (p.Ser1430=)
 gnomAD v4
2g.25742227G>CCA346073948ASXL2c.4107C>G (p.Ser1369Arg)
c.4110C>G (p.Ser1370Arg)
c.4026C>G (p.Ser1342Arg)
c.2559C>G (p.Ser853Arg)
c.3744C>G (p.Ser1248Arg)
c.3330C>G (p.Ser1110Arg)
c.3936C>G (p.Ser1312Arg)
c.4290C>G (p.Ser1430Arg)
2g.25742227G>TCA346073949ASXL2c.4107C>A (p.Ser1369Arg)
c.4110C>A (p.Ser1370Arg)
c.4026C>A (p.Ser1342Arg)
c.2559C>A (p.Ser853Arg)
c.3744C>A (p.Ser1248Arg)
c.3330C>A (p.Ser1110Arg)
c.3936C>A (p.Ser1312Arg)
c.4290C>A (p.Ser1430Arg)
2g.25742228C>ACA346073952ASXL2c.4106G>T (p.Ser1369Ile)
c.4109G>T (p.Ser1370Ile)
c.4025G>T (p.Ser1342Ile)
c.2558G>T (p.Ser853Ile)
c.3743G>T (p.Ser1248Ile)
c.3329G>T (p.Ser1110Ile)
c.3935G>T (p.Ser1312Ile)
c.4289G>T (p.Ser1430Ile)
2g.25742228C>GCA346073954ASXL2c.4106G>C (p.Ser1369Thr)
c.4109G>C (p.Ser1370Thr)
c.4025G>C (p.Ser1342Thr)
c.2558G>C (p.Ser853Thr)
c.3743G>C (p.Ser1248Thr)
c.3329G>C (p.Ser1110Thr)
c.3935G>C (p.Ser1312Thr)
c.4289G>C (p.Ser1430Thr)
2g.25742228C>TCA346073956ASXL2c.4106G>A (p.Ser1369Asn)
c.4109G>A (p.Ser1370Asn)
c.4025G>A (p.Ser1342Asn)
c.2558G>A (p.Ser853Asn)
c.3743G>A (p.Ser1248Asn)
c.3329G>A (p.Ser1110Asn)
c.3935G>A (p.Ser1312Asn)
c.4289G>A (p.Ser1430Asn)
 gnomAD v4
2g.25742229T>ACA346073959ASXL2c.4105A>T (p.Ser1369Cys)
c.4108A>T (p.Ser1370Cys)
c.4024A>T (p.Ser1342Cys)
c.2557A>T (p.Ser853Cys)
c.3742A>T (p.Ser1248Cys)
c.3328A>T (p.Ser1110Cys)
c.3934A>T (p.Ser1312Cys)
c.4288A>T (p.Ser1430Cys)
2g.25742229T>CCA346073961ASXL2c.4105A>G (p.Ser1369Gly)
c.4108A>G (p.Ser1370Gly)
c.4024A>G (p.Ser1342Gly)
c.2557A>G (p.Ser853Gly)
c.3742A>G (p.Ser1248Gly)
c.3328A>G (p.Ser1110Gly)
c.3934A>G (p.Ser1312Gly)
c.4288A>G (p.Ser1430Gly)
2g.25742229T>GCA346073963ASXL2c.4105A>C (p.Ser1369Arg)
c.4108A>C (p.Ser1370Arg)
c.4024A>C (p.Ser1342Arg)
c.2557A>C (p.Ser853Arg)
c.3742A>C (p.Ser1248Arg)
c.3328A>C (p.Ser1110Arg)
c.3934A>C (p.Ser1312Arg)
c.4288A>C (p.Ser1430Arg)
2g.25742230A=CA1239490372ASXL2c.4104T= (p.Ala1368=)
c.4107T= (p.Ala1369=)
c.4023T= (p.Ala1341=)
c.2556T= (p.Ala852=)
c.3741T= (p.Ala1247=)
c.3327T= (p.Ala1109=)
c.3933T= (p.Ala1311=)
c.4287T= (p.Ala1429=)
2g.25742230A>CCA425354315ASXL2c.4104T>G (p.Ala1368=)
c.4107T>G (p.Ala1369=)
c.4023T>G (p.Ala1341=)
c.2556T>G (p.Ala852=)
c.3741T>G (p.Ala1247=)
c.3327T>G (p.Ala1109=)
c.3933T>G (p.Ala1311=)
c.4287T>G (p.Ala1429=)
2g.25742230A>GCA425354317ASXL2c.4104T>C (p.Ala1368=)
c.4107T>C (p.Ala1369=)
c.4023T>C (p.Ala1341=)
c.2556T>C (p.Ala852=)
c.3741T>C (p.Ala1247=)
c.3327T>C (p.Ala1109=)
c.3933T>C (p.Ala1311=)
c.4287T>C (p.Ala1429=)
2g.25742230A>TCA1557361ASXL2c.4104T>A (p.Ala1368=)
c.4107T>A (p.Ala1369=)
c.4023T>A (p.Ala1341=)
c.2556T>A (p.Ala852=)
c.3741T>A (p.Ala1247=)
c.3327T>A (p.Ala1109=)
c.3933T>A (p.Ala1311=)
c.4287T>A (p.Ala1429=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742231G>ACA346073969ASXL2c.4103C>T (p.Ala1368Val)
c.4106C>T (p.Ala1369Val)
c.4022C>T (p.Ala1341Val)
c.2555C>T (p.Ala852Val)
c.3740C>T (p.Ala1247Val)
c.3326C>T (p.Ala1109Val)
c.3932C>T (p.Ala1311Val)
c.4286C>T (p.Ala1429Val)
 dbSNP gnomAD v3 gnomAD v4
2g.25742231G>CCA346073971ASXL2c.4103C>G (p.Ala1368Gly)
c.4106C>G (p.Ala1369Gly)
c.4022C>G (p.Ala1341Gly)
c.2555C>G (p.Ala852Gly)
c.3740C>G (p.Ala1247Gly)
c.3326C>G (p.Ala1109Gly)
c.3932C>G (p.Ala1311Gly)
c.4286C>G (p.Ala1429Gly)
2g.25742231G=CA1239490373ASXL2c.4103C= (p.Ala1368=)
c.4106C= (p.Ala1369=)
c.4022C= (p.Ala1341=)
c.2555C= (p.Ala852=)
c.3740C= (p.Ala1247=)
c.3326C= (p.Ala1109=)
c.3932C= (p.Ala1311=)
c.4286C= (p.Ala1429=)
2g.25742231G>TCA346073967ASXL2c.4103C>A (p.Ala1368Asp)
c.4106C>A (p.Ala1369Asp)
c.4022C>A (p.Ala1341Asp)
c.2555C>A (p.Ala852Asp)
c.3740C>A (p.Ala1247Asp)
c.3326C>A (p.Ala1109Asp)
c.3932C>A (p.Ala1311Asp)
c.4286C>A (p.Ala1429Asp)
2g.25742232C>ACA346073973ASXL2c.4102G>T (p.Ala1368Ser)
c.4105G>T (p.Ala1369Ser)
c.4021G>T (p.Ala1341Ser)
c.2554G>T (p.Ala852Ser)
c.3739G>T (p.Ala1247Ser)
c.3325G>T (p.Ala1109Ser)
c.3931G>T (p.Ala1311Ser)
c.4285G>T (p.Ala1429Ser)
 ClinVar dbSNP
2g.25742232C>GCA346073975ASXL2c.4102G>C (p.Ala1368Pro)
c.4105G>C (p.Ala1369Pro)
c.4021G>C (p.Ala1341Pro)
c.2554G>C (p.Ala852Pro)
c.3739G>C (p.Ala1247Pro)
c.3325G>C (p.Ala1109Pro)
c.3931G>C (p.Ala1311Pro)
c.4285G>C (p.Ala1429Pro)
2g.25742232C>TCA346073977ASXL2c.4102G>A (p.Ala1368Thr)
c.4105G>A (p.Ala1369Thr)
c.4021G>A (p.Ala1341Thr)
c.2554G>A (p.Ala852Thr)
c.3739G>A (p.Ala1247Thr)
c.3325G>A (p.Ala1109Thr)
c.3931G>A (p.Ala1311Thr)
c.4285G>A (p.Ala1429Thr)
2g.25742233A>CCA425354324ASXL2c.4101T>G (p.Pro1367=)
c.4104T>G (p.Pro1368=)
c.4020T>G (p.Pro1340=)
c.2553T>G (p.Pro851=)
c.3738T>G (p.Pro1246=)
c.3324T>G (p.Pro1108=)
c.3930T>G (p.Pro1310=)
c.4284T>G (p.Pro1428=)
2g.25742233A>GCA425354323ASXL2c.4101T>C (p.Pro1367=)
c.4104T>C (p.Pro1368=)
c.4020T>C (p.Pro1340=)
c.2553T>C (p.Pro851=)
c.3738T>C (p.Pro1246=)
c.3324T>C (p.Pro1108=)
c.3930T>C (p.Pro1310=)
c.4284T>C (p.Pro1428=)
2g.25742233A>TCA425354322ASXL2c.4101T>A (p.Pro1367=)
c.4104T>A (p.Pro1368=)
c.4020T>A (p.Pro1340=)
c.2553T>A (p.Pro851=)
c.3738T>A (p.Pro1246=)
c.3324T>A (p.Pro1108=)
c.3930T>A (p.Pro1310=)
c.4284T>A (p.Pro1428=)
2g.25742234G>ACA346073980ASXL2c.4100C>T (p.Pro1367Leu)
c.4103C>T (p.Pro1368Leu)
c.4019C>T (p.Pro1340Leu)
c.2552C>T (p.Pro851Leu)
c.3737C>T (p.Pro1246Leu)
c.3323C>T (p.Pro1108Leu)
c.3929C>T (p.Pro1310Leu)
c.4283C>T (p.Pro1428Leu)
2g.25742234G>CCA346073981ASXL2c.4100C>G (p.Pro1367Arg)
c.4103C>G (p.Pro1368Arg)
c.4019C>G (p.Pro1340Arg)
c.2552C>G (p.Pro851Arg)
c.3737C>G (p.Pro1246Arg)
c.3323C>G (p.Pro1108Arg)
c.3929C>G (p.Pro1310Arg)
c.4283C>G (p.Pro1428Arg)
2g.25742234G>TCA346073984ASXL2c.4100C>A (p.Pro1367His)
c.4103C>A (p.Pro1368His)
c.4019C>A (p.Pro1340His)
c.2552C>A (p.Pro851His)
c.3737C>A (p.Pro1246His)
c.3323C>A (p.Pro1108His)
c.3929C>A (p.Pro1310His)
c.4283C>A (p.Pro1428His)
2g.25742235G>ACA346073987ASXL2c.4099C>T (p.Pro1367Ser)
c.4102C>T (p.Pro1368Ser)
c.4018C>T (p.Pro1340Ser)
c.2551C>T (p.Pro851Ser)
c.3736C>T (p.Pro1246Ser)
c.3322C>T (p.Pro1108Ser)
c.3928C>T (p.Pro1310Ser)
c.4282C>T (p.Pro1428Ser)
2g.25742235G>CCA1557362ASXL2c.4099C>G (p.Pro1367Ala)
c.4102C>G (p.Pro1368Ala)
c.4018C>G (p.Pro1340Ala)
c.2551C>G (p.Pro851Ala)
c.3736C>G (p.Pro1246Ala)
c.3322C>G (p.Pro1108Ala)
c.3928C>G (p.Pro1310Ala)
c.4282C>G (p.Pro1428Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742235G=CA1239490374ASXL2c.4099C= (p.Pro1367=)
c.4102C= (p.Pro1368=)
c.4018C= (p.Pro1340=)
c.2551C= (p.Pro851=)
c.3736C= (p.Pro1246=)
c.3322C= (p.Pro1108=)
c.3928C= (p.Pro1310=)
c.4282C= (p.Pro1428=)
2g.25742235G>TCA346073989ASXL2c.4099C>A (p.Pro1367Thr)
c.4102C>A (p.Pro1368Thr)
c.4018C>A (p.Pro1340Thr)
c.2551C>A (p.Pro851Thr)
c.3736C>A (p.Pro1246Thr)
c.3322C>A (p.Pro1108Thr)
c.3928C>A (p.Pro1310Thr)
c.4282C>A (p.Pro1428Thr)
2g.25742236G>ACA425354327ASXL2c.4098C>T (p.Ile1366=)
c.4101C>T (p.Ile1367=)
c.4017C>T (p.Ile1339=)
c.2550C>T (p.Ile850=)
c.3735C>T (p.Ile1245=)
c.3321C>T (p.Ile1107=)
c.3927C>T (p.Ile1309=)
c.4281C>T (p.Ile1427=)
2g.25742236G>CCA346073991ASXL2c.4098C>G (p.Ile1366Met)
c.4101C>G (p.Ile1367Met)
c.4017C>G (p.Ile1339Met)
c.2550C>G (p.Ile850Met)
c.3735C>G (p.Ile1245Met)
c.3321C>G (p.Ile1107Met)
c.3927C>G (p.Ile1309Met)
c.4281C>G (p.Ile1427Met)
2g.25742236G>TCA425354328ASXL2c.4098C>A (p.Ile1366=)
c.4101C>A (p.Ile1367=)
c.4017C>A (p.Ile1339=)
c.2550C>A (p.Ile850=)
c.3735C>A (p.Ile1245=)
c.3321C>A (p.Ile1107=)
c.3927C>A (p.Ile1309=)
c.4281C>A (p.Ile1427=)
2g.25742237A>CCA346073993ASXL2c.4097T>G (p.Ile1366Ser)
c.4100T>G (p.Ile1367Ser)
c.4016T>G (p.Ile1339Ser)
c.2549T>G (p.Ile850Ser)
c.3734T>G (p.Ile1245Ser)
c.3320T>G (p.Ile1107Ser)
c.3926T>G (p.Ile1309Ser)
c.4280T>G (p.Ile1427Ser)
2g.25742237A>GCA346073996ASXL2c.4097T>C (p.Ile1366Thr)
c.4100T>C (p.Ile1367Thr)
c.4016T>C (p.Ile1339Thr)
c.2549T>C (p.Ile850Thr)
c.3734T>C (p.Ile1245Thr)
c.3320T>C (p.Ile1107Thr)
c.3926T>C (p.Ile1309Thr)
c.4280T>C (p.Ile1427Thr)
2g.25742237A>TCA346073998ASXL2c.4097T>A (p.Ile1366Asn)
c.4100T>A (p.Ile1367Asn)
c.4016T>A (p.Ile1339Asn)
c.2549T>A (p.Ile850Asn)
c.3734T>A (p.Ile1245Asn)
c.3320T>A (p.Ile1107Asn)
c.3926T>A (p.Ile1309Asn)
c.4280T>A (p.Ile1427Asn)
2g.25742238T>ACA346074000ASXL2c.4096A>T (p.Ile1366Phe)
c.4099A>T (p.Ile1367Phe)
c.4015A>T (p.Ile1339Phe)
c.2548A>T (p.Ile850Phe)
c.3733A>T (p.Ile1245Phe)
c.3319A>T (p.Ile1107Phe)
c.3925A>T (p.Ile1309Phe)
c.4279A>T (p.Ile1427Phe)
2g.25742238T>CCA346074004ASXL2c.4096A>G (p.Ile1366Val)
c.4099A>G (p.Ile1367Val)
c.4015A>G (p.Ile1339Val)
c.2548A>G (p.Ile850Val)
c.3733A>G (p.Ile1245Val)
c.3319A>G (p.Ile1107Val)
c.3925A>G (p.Ile1309Val)
c.4279A>G (p.Ile1427Val)
 dbSNP gnomAD v3 gnomAD v4
2g.25742238T>GCA346074002ASXL2c.4096A>C (p.Ile1366Leu)
c.4099A>C (p.Ile1367Leu)
c.4015A>C (p.Ile1339Leu)
c.2548A>C (p.Ile850Leu)
c.3733A>C (p.Ile1245Leu)
c.3319A>C (p.Ile1107Leu)
c.3925A>C (p.Ile1309Leu)
c.4279A>C (p.Ile1427Leu)
2g.25742238T=CA1239490375ASXL2c.4096A= (p.Ile1366=)
c.4099A= (p.Ile1367=)
c.4015A= (p.Ile1339=)
c.2548A= (p.Ile850=)
c.3733A= (p.Ile1245=)
c.3319A= (p.Ile1107=)
c.3925A= (p.Ile1309=)
c.4279A= (p.Ile1427=)
2g.25742239G>ACA425354332ASXL2c.4095C>T (p.Thr1365=)
c.4098C>T (p.Thr1366=)
c.4014C>T (p.Thr1338=)
c.2547C>T (p.Thr849=)
c.3732C>T (p.Thr1244=)
c.3318C>T (p.Thr1106=)
c.3924C>T (p.Thr1308=)
c.4278C>T (p.Thr1426=)
2g.25742239G>CCA425354333ASXL2c.4095C>G (p.Thr1365=)
c.4098C>G (p.Thr1366=)
c.4014C>G (p.Thr1338=)
c.2547C>G (p.Thr849=)
c.3732C>G (p.Thr1244=)
c.3318C>G (p.Thr1106=)
c.3924C>G (p.Thr1308=)
c.4278C>G (p.Thr1426=)
2g.25742239G>TCA425354334ASXL2c.4095C>A (p.Thr1365=)
c.4098C>A (p.Thr1366=)
c.4014C>A (p.Thr1338=)
c.2547C>A (p.Thr849=)
c.3732C>A (p.Thr1244=)
c.3318C>A (p.Thr1106=)
c.3924C>A (p.Thr1308=)
c.4278C>A (p.Thr1426=)
2g.25742240G>ACA346074006ASXL2c.4094C>T (p.Thr1365Ile)
c.4097C>T (p.Thr1366Ile)
c.4013C>T (p.Thr1338Ile)
c.2546C>T (p.Thr849Ile)
c.3731C>T (p.Thr1244Ile)
c.3317C>T (p.Thr1106Ile)
c.3923C>T (p.Thr1308Ile)
c.4277C>T (p.Thr1426Ile)
 COSMIC COSMIC
2g.25742240G>CCA346074011ASXL2c.4094C>G (p.Thr1365Ser)
c.4097C>G (p.Thr1366Ser)
c.4013C>G (p.Thr1338Ser)
c.2546C>G (p.Thr849Ser)
c.3731C>G (p.Thr1244Ser)
c.3317C>G (p.Thr1106Ser)
c.3923C>G (p.Thr1308Ser)
c.4277C>G (p.Thr1426Ser)
2g.25742240G>TCA346074009ASXL2c.4094C>A (p.Thr1365Asn)
c.4097C>A (p.Thr1366Asn)
c.4013C>A (p.Thr1338Asn)
c.2546C>A (p.Thr849Asn)
c.3731C>A (p.Thr1244Asn)
c.3317C>A (p.Thr1106Asn)
c.3923C>A (p.Thr1308Asn)
c.4277C>A (p.Thr1426Asn)
2g.25742241T>ACA346074013ASXL2c.4093A>T (p.Thr1365Ser)
c.4096A>T (p.Thr1366Ser)
c.4012A>T (p.Thr1338Ser)
c.2545A>T (p.Thr849Ser)
c.3730A>T (p.Thr1244Ser)
c.3316A>T (p.Thr1106Ser)
c.3922A>T (p.Thr1308Ser)
c.4276A>T (p.Thr1426Ser)
2g.25742241T>CCA346074018ASXL2c.4093A>G (p.Thr1365Ala)
c.4096A>G (p.Thr1366Ala)
c.4012A>G (p.Thr1338Ala)
c.2545A>G (p.Thr849Ala)
c.3730A>G (p.Thr1244Ala)
c.3316A>G (p.Thr1106Ala)
c.3922A>G (p.Thr1308Ala)
c.4276A>G (p.Thr1426Ala)
 gnomAD v4
2g.25742241T>GCA346074015ASXL2c.4093A>C (p.Thr1365Pro)
c.4096A>C (p.Thr1366Pro)
c.4012A>C (p.Thr1338Pro)
c.2545A>C (p.Thr849Pro)
c.3730A>C (p.Thr1244Pro)
c.3316A>C (p.Thr1106Pro)
c.3922A>C (p.Thr1308Pro)
c.4276A>C (p.Thr1426Pro)
2g.25742242A>CCA425354338ASXL2c.4092T>G (p.Thr1364=)
c.4095T>G (p.Thr1365=)
c.4011T>G (p.Thr1337=)
c.2544T>G (p.Thr848=)
c.3729T>G (p.Thr1243=)
c.3315T>G (p.Thr1105=)
c.3921T>G (p.Thr1307=)
c.4275T>G (p.Thr1425=)
2g.25742242A>GCA425354339ASXL2c.4092T>C (p.Thr1364=)
c.4095T>C (p.Thr1365=)
c.4011T>C (p.Thr1337=)
c.2544T>C (p.Thr848=)
c.3729T>C (p.Thr1243=)
c.3315T>C (p.Thr1105=)
c.3921T>C (p.Thr1307=)
c.4275T>C (p.Thr1425=)
2g.25742242A>TCA425354340ASXL2c.4092T>A (p.Thr1364=)
c.4095T>A (p.Thr1365=)
c.4011T>A (p.Thr1337=)
c.2544T>A (p.Thr848=)
c.3729T>A (p.Thr1243=)
c.3315T>A (p.Thr1105=)
c.3921T>A (p.Thr1307=)
c.4275T>A (p.Thr1425=)
2g.25742243G>ACA346074020ASXL2c.4091C>T (p.Thr1364Ile)
c.4094C>T (p.Thr1365Ile)
c.4010C>T (p.Thr1337Ile)
c.2543C>T (p.Thr848Ile)
c.3728C>T (p.Thr1243Ile)
c.3314C>T (p.Thr1105Ile)
c.3920C>T (p.Thr1307Ile)
c.4274C>T (p.Thr1425Ile)
 dbSNP
2g.25742243G>CCA346074022ASXL2c.4091C>G (p.Thr1364Ser)
c.4094C>G (p.Thr1365Ser)
c.4010C>G (p.Thr1337Ser)
c.2543C>G (p.Thr848Ser)
c.3728C>G (p.Thr1243Ser)
c.3314C>G (p.Thr1105Ser)
c.3920C>G (p.Thr1307Ser)
c.4274C>G (p.Thr1425Ser)
2g.25742243G=CA1239490376ASXL2c.4091C= (p.Thr1364=)
c.4094C= (p.Thr1365=)
c.4010C= (p.Thr1337=)
c.2543C= (p.Thr848=)
c.3728C= (p.Thr1243=)
c.3314C= (p.Thr1105=)
c.3920C= (p.Thr1307=)
c.4274C= (p.Thr1425=)
2g.25742243G>TCA346074024ASXL2c.4091C>A (p.Thr1364Asn)
c.4094C>A (p.Thr1365Asn)
c.4010C>A (p.Thr1337Asn)
c.2543C>A (p.Thr848Asn)
c.3728C>A (p.Thr1243Asn)
c.3314C>A (p.Thr1105Asn)
c.3920C>A (p.Thr1307Asn)
c.4274C>A (p.Thr1425Asn)
2g.25742244T>ACA346074027ASXL2c.4090A>T (p.Thr1364Ser)
c.4093A>T (p.Thr1365Ser)
c.4009A>T (p.Thr1337Ser)
c.2542A>T (p.Thr848Ser)
c.3727A>T (p.Thr1243Ser)
c.3313A>T (p.Thr1105Ser)
c.3919A>T (p.Thr1307Ser)
c.4273A>T (p.Thr1425Ser)
2g.25742244T>CCA346074029ASXL2c.4090A>G (p.Thr1364Ala)
c.4093A>G (p.Thr1365Ala)
c.4009A>G (p.Thr1337Ala)
c.2542A>G (p.Thr848Ala)
c.3727A>G (p.Thr1243Ala)
c.3313A>G (p.Thr1105Ala)
c.3919A>G (p.Thr1307Ala)
c.4273A>G (p.Thr1425Ala)
 gnomAD v4
2g.25742244T>GCA346074030ASXL2c.4090A>C (p.Thr1364Pro)
c.4093A>C (p.Thr1365Pro)
c.4009A>C (p.Thr1337Pro)
c.2542A>C (p.Thr848Pro)
c.3727A>C (p.Thr1243Pro)
c.3313A>C (p.Thr1105Pro)
c.3919A>C (p.Thr1307Pro)
c.4273A>C (p.Thr1425Pro)
2g.25742244_25742247dupCA2658189294ASXL2c.4087_4090dup (p.Thr1364SerfsTer7)
c.4090_4093dup (p.Thr1365SerfsTer7)
c.4006_4009dup (p.Thr1337SerfsTer7)
c.2539_2542dup (p.Thr848SerfsTer7)
c.3724_3727dup (p.Thr1243SerfsTer7)
c.3310_3313dup (p.Thr1105SerfsTer7)
c.3916_3919dup (p.Thr1307SerfsTer7)
c.4270_4273dup (p.Thr1425SerfsTer7)
 gnomAD v4
2g.25742245G>ACA425354345ASXL2c.4089C>T (p.Val1363=)
c.4092C>T (p.Val1364=)
c.4008C>T (p.Val1336=)
c.2541C>T (p.Val847=)
c.3726C>T (p.Val1242=)
c.3312C>T (p.Val1104=)
c.3918C>T (p.Val1306=)
c.4272C>T (p.Val1424=)
 gnomAD v4
2g.25742245G>CCA425354346ASXL2c.4089C>G (p.Val1363=)
c.4092C>G (p.Val1364=)
c.4008C>G (p.Val1336=)
c.2541C>G (p.Val847=)
c.3726C>G (p.Val1242=)
c.3312C>G (p.Val1104=)
c.3918C>G (p.Val1306=)
c.4272C>G (p.Val1424=)
2g.25742245G>TCA425354347ASXL2c.4089C>A (p.Val1363=)
c.4092C>A (p.Val1364=)
c.4008C>A (p.Val1336=)
c.2541C>A (p.Val847=)
c.3726C>A (p.Val1242=)
c.3312C>A (p.Val1104=)
c.3918C>A (p.Val1306=)
c.4272C>A (p.Val1424=)
2g.25742246A>CCA346074031ASXL2c.4088T>G (p.Val1363Gly)
c.4091T>G (p.Val1364Gly)
c.4007T>G (p.Val1336Gly)
c.2540T>G (p.Val847Gly)
c.3725T>G (p.Val1242Gly)
c.3311T>G (p.Val1104Gly)
c.3917T>G (p.Val1306Gly)
c.4271T>G (p.Val1424Gly)
2g.25742246A>GCA346074032ASXL2c.4088T>C (p.Val1363Ala)
c.4091T>C (p.Val1364Ala)
c.4007T>C (p.Val1336Ala)
c.2540T>C (p.Val847Ala)
c.3725T>C (p.Val1242Ala)
c.3311T>C (p.Val1104Ala)
c.3917T>C (p.Val1306Ala)
c.4271T>C (p.Val1424Ala)
2g.25742246A>TCA346074034ASXL2c.4088T>A (p.Val1363Asp)
c.4091T>A (p.Val1364Asp)
c.4007T>A (p.Val1336Asp)
c.2540T>A (p.Val847Asp)
c.3725T>A (p.Val1242Asp)
c.3311T>A (p.Val1104Asp)
c.3917T>A (p.Val1306Asp)
c.4271T>A (p.Val1424Asp)
2g.25742247C>ACA346074037ASXL2c.4087G>T (p.Val1363Phe)
c.4090G>T (p.Val1364Phe)
c.4006G>T (p.Val1336Phe)
c.2539G>T (p.Val847Phe)
c.3724G>T (p.Val1242Phe)
c.3310G>T (p.Val1104Phe)
c.3916G>T (p.Val1306Phe)
c.4270G>T (p.Val1424Phe)
2g.25742247C>GCA346074039ASXL2c.4087G>C (p.Val1363Leu)
c.4090G>C (p.Val1364Leu)
c.4006G>C (p.Val1336Leu)
c.2539G>C (p.Val847Leu)
c.3724G>C (p.Val1242Leu)
c.3310G>C (p.Val1104Leu)
c.3916G>C (p.Val1306Leu)
c.4270G>C (p.Val1424Leu)
2g.25742247C>TCA346074042ASXL2c.4087G>A (p.Val1363Ile)
c.4090G>A (p.Val1364Ile)
c.4006G>A (p.Val1336Ile)
c.2539G>A (p.Val847Ile)
c.3724G>A (p.Val1242Ile)
c.3310G>A (p.Val1104Ile)
c.3916G>A (p.Val1306Ile)
c.4270G>A (p.Val1424Ile)
 gnomAD v4
2g.25742248A=CA1239490377ASXL2c.4086T= (p.Thr1362=)
c.4089T= (p.Thr1363=)
c.4005T= (p.Thr1335=)
c.2538T= (p.Thr846=)
c.3723T= (p.Thr1241=)
c.3309T= (p.Thr1103=)
c.3915T= (p.Thr1305=)
c.4269T= (p.Thr1423=)
2g.25742248A>CCA425354351ASXL2c.4086T>G (p.Thr1362=)
c.4089T>G (p.Thr1363=)
c.4005T>G (p.Thr1335=)
c.2538T>G (p.Thr846=)
c.3723T>G (p.Thr1241=)
c.3309T>G (p.Thr1103=)
c.3915T>G (p.Thr1305=)
c.4269T>G (p.Thr1423=)
 gnomAD v4
2g.25742248A>GCA1557363ASXL2c.4086T>C (p.Thr1362=)
c.4089T>C (p.Thr1363=)
c.4005T>C (p.Thr1335=)
c.2538T>C (p.Thr846=)
c.3723T>C (p.Thr1241=)
c.3309T>C (p.Thr1103=)
c.3915T>C (p.Thr1305=)
c.4269T>C (p.Thr1423=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742248A>TCA425354352ASXL2c.4086T>A (p.Thr1362=)
c.4089T>A (p.Thr1363=)
c.4005T>A (p.Thr1335=)
c.2538T>A (p.Thr846=)
c.3723T>A (p.Thr1241=)
c.3309T>A (p.Thr1103=)
c.3915T>A (p.Thr1305=)
c.4269T>A (p.Thr1423=)
2g.25742249G>ACA346074047ASXL2c.4085C>T (p.Thr1362Ile)
c.4088C>T (p.Thr1363Ile)
c.4004C>T (p.Thr1335Ile)
c.2537C>T (p.Thr846Ile)
c.3722C>T (p.Thr1241Ile)
c.3308C>T (p.Thr1103Ile)
c.3914C>T (p.Thr1305Ile)
c.4268C>T (p.Thr1423Ile)
2g.25742249G>CCA346074056ASXL2c.4085C>G (p.Thr1362Ser)
c.4088C>G (p.Thr1363Ser)
c.4004C>G (p.Thr1335Ser)
c.2537C>G (p.Thr846Ser)
c.3722C>G (p.Thr1241Ser)
c.3308C>G (p.Thr1103Ser)
c.3914C>G (p.Thr1305Ser)
c.4268C>G (p.Thr1423Ser)
2g.25742249G>TCA346074051ASXL2c.4085C>A (p.Thr1362Asn)
c.4088C>A (p.Thr1363Asn)
c.4004C>A (p.Thr1335Asn)
c.2537C>A (p.Thr846Asn)
c.3722C>A (p.Thr1241Asn)
c.3308C>A (p.Thr1103Asn)
c.3914C>A (p.Thr1305Asn)
c.4268C>A (p.Thr1423Asn)
2g.25742250T>ACA346074059ASXL2c.4084A>T (p.Thr1362Ser)
c.4087A>T (p.Thr1363Ser)
c.4003A>T (p.Thr1335Ser)
c.2536A>T (p.Thr846Ser)
c.3721A>T (p.Thr1241Ser)
c.3307A>T (p.Thr1103Ser)
c.3913A>T (p.Thr1305Ser)
c.4267A>T (p.Thr1423Ser)
2g.25742250T>CCA1557364ASXL2c.4084A>G (p.Thr1362Ala)
c.4087A>G (p.Thr1363Ala)
c.4003A>G (p.Thr1335Ala)
c.2536A>G (p.Thr846Ala)
c.3721A>G (p.Thr1241Ala)
c.3307A>G (p.Thr1103Ala)
c.3913A>G (p.Thr1305Ala)
c.4267A>G (p.Thr1423Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742250T>GCA346074064ASXL2c.4084A>C (p.Thr1362Pro)
c.4087A>C (p.Thr1363Pro)
c.4003A>C (p.Thr1335Pro)
c.2536A>C (p.Thr846Pro)
c.3721A>C (p.Thr1241Pro)
c.3307A>C (p.Thr1103Pro)
c.3913A>C (p.Thr1305Pro)
c.4267A>C (p.Thr1423Pro)
2g.25742250T=CA1239490378ASXL2c.4084A= (p.Thr1362=)
c.4087A= (p.Thr1363=)
c.4003A= (p.Thr1335=)
c.2536A= (p.Thr846=)
c.3721A= (p.Thr1241=)
c.3307A= (p.Thr1103=)
c.3913A= (p.Thr1305=)
c.4267A= (p.Thr1423=)
2g.25742251C>ACA425354355ASXL2c.4083G>T (p.Val1361=)
c.4086G>T (p.Val1362=)
c.4002G>T (p.Val1334=)
c.2535G>T (p.Val845=)
c.3720G>T (p.Val1240=)
c.3306G>T (p.Val1102=)
c.3912G>T (p.Val1304=)
c.4266G>T (p.Val1422=)
 gnomAD v4
2g.25742251C>GCA425354356ASXL2c.4083G>C (p.Val1361=)
c.4086G>C (p.Val1362=)
c.4002G>C (p.Val1334=)
c.2535G>C (p.Val845=)
c.3720G>C (p.Val1240=)
c.3306G>C (p.Val1102=)
c.3912G>C (p.Val1304=)
c.4266G>C (p.Val1422=)
2g.25742251C>TCA425354357ASXL2c.4083G>A (p.Val1361=)
c.4086G>A (p.Val1362=)
c.4002G>A (p.Val1334=)
c.2535G>A (p.Val845=)
c.3720G>A (p.Val1240=)
c.3306G>A (p.Val1102=)
c.3912G>A (p.Val1304=)
c.4266G>A (p.Val1422=)
2g.25742252A>CCA346074069ASXL2c.4082T>G (p.Val1361Gly)
c.4085T>G (p.Val1362Gly)
c.4001T>G (p.Val1334Gly)
c.2534T>G (p.Val845Gly)
c.3719T>G (p.Val1240Gly)
c.3305T>G (p.Val1102Gly)
c.3911T>G (p.Val1304Gly)
c.4265T>G (p.Val1422Gly)
2g.25742252A>GCA346074071ASXL2c.4082T>C (p.Val1361Ala)
c.4085T>C (p.Val1362Ala)
c.4001T>C (p.Val1334Ala)
c.2534T>C (p.Val845Ala)
c.3719T>C (p.Val1240Ala)
c.3305T>C (p.Val1102Ala)
c.3911T>C (p.Val1304Ala)
c.4265T>C (p.Val1422Ala)
2g.25742252A>TCA346074073ASXL2c.4082T>A (p.Val1361Glu)
c.4085T>A (p.Val1362Glu)
c.4001T>A (p.Val1334Glu)
c.2534T>A (p.Val845Glu)
c.3719T>A (p.Val1240Glu)
c.3305T>A (p.Val1102Glu)
c.3911T>A (p.Val1304Glu)
c.4265T>A (p.Val1422Glu)
2g.25742253C>ACA346074084ASXL2c.4081G>T (p.Val1361Leu)
c.4084G>T (p.Val1362Leu)
c.4000G>T (p.Val1334Leu)
c.2533G>T (p.Val845Leu)
c.3718G>T (p.Val1240Leu)
c.3304G>T (p.Val1102Leu)
c.3910G>T (p.Val1304Leu)
c.4264G>T (p.Val1422Leu)
2g.25742253C>GCA346074085ASXL2c.4081G>C (p.Val1361Leu)
c.4084G>C (p.Val1362Leu)
c.4000G>C (p.Val1334Leu)
c.2533G>C (p.Val845Leu)
c.3718G>C (p.Val1240Leu)
c.3304G>C (p.Val1102Leu)
c.3910G>C (p.Val1304Leu)
c.4264G>C (p.Val1422Leu)
2g.25742253C>TCA346074087ASXL2c.4081G>A (p.Val1361Met)
c.4084G>A (p.Val1362Met)
c.4000G>A (p.Val1334Met)
c.2533G>A (p.Val845Met)
c.3718G>A (p.Val1240Met)
c.3304G>A (p.Val1102Met)
c.3910G>A (p.Val1304Met)
c.4264G>A (p.Val1422Met)
2g.25742254T>ACA425354361ASXL2c.4080A>T (p.Ser1360=)
c.4083A>T (p.Ser1361=)
c.3999A>T (p.Ser1333=)
c.2532A>T (p.Ser844=)
c.3717A>T (p.Ser1239=)
c.3303A>T (p.Ser1101=)
c.3909A>T (p.Ser1303=)
c.4263A>T (p.Ser1421=)
2g.25742254T>CCA425354364ASXL2c.4080A>G (p.Ser1360=)
c.4083A>G (p.Ser1361=)
c.3999A>G (p.Ser1333=)
c.2532A>G (p.Ser844=)
c.3717A>G (p.Ser1239=)
c.3303A>G (p.Ser1101=)
c.3909A>G (p.Ser1303=)
c.4263A>G (p.Ser1421=)
2g.25742254T>GCA425354363ASXL2c.4080A>C (p.Ser1360=)
c.4083A>C (p.Ser1361=)
c.3999A>C (p.Ser1333=)
c.2532A>C (p.Ser844=)
c.3717A>C (p.Ser1239=)
c.3303A>C (p.Ser1101=)
c.3909A>C (p.Ser1303=)
c.4263A>C (p.Ser1421=)
2g.25742255G>ACA346074097ASXL2c.4079C>T (p.Ser1360Leu)
c.4082C>T (p.Ser1361Leu)
c.3998C>T (p.Ser1333Leu)
c.2531C>T (p.Ser844Leu)
c.3716C>T (p.Ser1239Leu)
c.3302C>T (p.Ser1101Leu)
c.3908C>T (p.Ser1303Leu)
c.4262C>T (p.Ser1421Leu)
 gnomAD v4 COSMIC COSMIC
2g.25742255G>CCA346074094ASXL2c.4079C>G (p.Ser1360Ter)
c.4082C>G (p.Ser1361Ter)
c.3998C>G (p.Ser1333Ter)
c.2531C>G (p.Ser844Ter)
c.3716C>G (p.Ser1239Ter)
c.3302C>G (p.Ser1101Ter)
c.3908C>G (p.Ser1303Ter)
c.4262C>G (p.Ser1421Ter)
2g.25742255G>TCA346074092ASXL2c.4079C>A (p.Ser1360Ter)
c.4082C>A (p.Ser1361Ter)
c.3998C>A (p.Ser1333Ter)
c.2531C>A (p.Ser844Ter)
c.3716C>A (p.Ser1239Ter)
c.3302C>A (p.Ser1101Ter)
c.3908C>A (p.Ser1303Ter)
c.4262C>A (p.Ser1421Ter)
2g.25742256A>CCA346074101ASXL2c.4078T>G (p.Ser1360Ala)
c.4081T>G (p.Ser1361Ala)
c.3997T>G (p.Ser1333Ala)
c.2530T>G (p.Ser844Ala)
c.3715T>G (p.Ser1239Ala)
c.3301T>G (p.Ser1101Ala)
c.3907T>G (p.Ser1303Ala)
c.4261T>G (p.Ser1421Ala)
2g.25742256A>GCA346074104ASXL2c.4078T>C (p.Ser1360Pro)
c.4081T>C (p.Ser1361Pro)
c.3997T>C (p.Ser1333Pro)
c.2530T>C (p.Ser844Pro)
c.3715T>C (p.Ser1239Pro)
c.3301T>C (p.Ser1101Pro)
c.3907T>C (p.Ser1303Pro)
c.4261T>C (p.Ser1421Pro)
2g.25742256A>TCA346074109ASXL2c.4078T>A (p.Ser1360Thr)
c.4081T>A (p.Ser1361Thr)
c.3997T>A (p.Ser1333Thr)
c.2530T>A (p.Ser844Thr)
c.3715T>A (p.Ser1239Thr)
c.3301T>A (p.Ser1101Thr)
c.3907T>A (p.Ser1303Thr)
c.4261T>A (p.Ser1421Thr)
2g.25742257A>CCA346074112ASXL2c.4077T>G (p.Phe1359Leu)
c.4080T>G (p.Phe1360Leu)
c.3996T>G (p.Phe1332Leu)
c.2529T>G (p.Phe843Leu)
c.3714T>G (p.Phe1238Leu)
c.3300T>G (p.Phe1100Leu)
c.3906T>G (p.Phe1302Leu)
c.4260T>G (p.Phe1420Leu)
2g.25742257A>GCA425354367ASXL2c.4077T>C (p.Phe1359=)
c.4080T>C (p.Phe1360=)
c.3996T>C (p.Phe1332=)
c.2529T>C (p.Phe843=)
c.3714T>C (p.Phe1238=)
c.3300T>C (p.Phe1100=)
c.3906T>C (p.Phe1302=)
c.4260T>C (p.Phe1420=)
2g.25742257A>TCA346074115ASXL2c.4077T>A (p.Phe1359Leu)
c.4080T>A (p.Phe1360Leu)
c.3996T>A (p.Phe1332Leu)
c.2529T>A (p.Phe843Leu)
c.3714T>A (p.Phe1238Leu)
c.3300T>A (p.Phe1100Leu)
c.3906T>A (p.Phe1302Leu)
c.4260T>A (p.Phe1420Leu)
2g.25742258A>CCA346074119ASXL2c.4076T>G (p.Phe1359Cys)
c.4079T>G (p.Phe1360Cys)
c.3995T>G (p.Phe1332Cys)
c.2528T>G (p.Phe843Cys)
c.3713T>G (p.Phe1238Cys)
c.3299T>G (p.Phe1100Cys)
c.3905T>G (p.Phe1302Cys)
c.4259T>G (p.Phe1420Cys)
2g.25742258A>GCA346074121ASXL2c.4076T>C (p.Phe1359Ser)
c.4079T>C (p.Phe1360Ser)
c.3995T>C (p.Phe1332Ser)
c.2528T>C (p.Phe843Ser)
c.3713T>C (p.Phe1238Ser)
c.3299T>C (p.Phe1100Ser)
c.3905T>C (p.Phe1302Ser)
c.4259T>C (p.Phe1420Ser)
2g.25742258A>TCA346074123ASXL2c.4076T>A (p.Phe1359Tyr)
c.4079T>A (p.Phe1360Tyr)
c.3995T>A (p.Phe1332Tyr)
c.2528T>A (p.Phe843Tyr)
c.3713T>A (p.Phe1238Tyr)
c.3299T>A (p.Phe1100Tyr)
c.3905T>A (p.Phe1302Tyr)
c.4259T>A (p.Phe1420Tyr)
2g.25742259A>CCA346074129ASXL2c.4075T>G (p.Phe1359Val)
c.4078T>G (p.Phe1360Val)
c.3994T>G (p.Phe1332Val)
c.2527T>G (p.Phe843Val)
c.3712T>G (p.Phe1238Val)
c.3298T>G (p.Phe1100Val)
c.3904T>G (p.Phe1302Val)
c.4258T>G (p.Phe1420Val)
2g.25742259A>GCA346074131ASXL2c.4075T>C (p.Phe1359Leu)
c.4078T>C (p.Phe1360Leu)
c.3994T>C (p.Phe1332Leu)
c.2527T>C (p.Phe843Leu)
c.3712T>C (p.Phe1238Leu)
c.3298T>C (p.Phe1100Leu)
c.3904T>C (p.Phe1302Leu)
c.4258T>C (p.Phe1420Leu)
2g.25742259A>TCA346074133ASXL2c.4075T>A (p.Phe1359Ile)
c.4078T>A (p.Phe1360Ile)
c.3994T>A (p.Phe1332Ile)
c.2527T>A (p.Phe843Ile)
c.3712T>A (p.Phe1238Ile)
c.3298T>A (p.Phe1100Ile)
c.3904T>A (p.Phe1302Ile)
c.4258T>A (p.Phe1420Ile)
2g.25742260T>ACA425354374ASXL2c.4074A>T (p.Ser1358=)
c.4077A>T (p.Ser1359=)
c.3993A>T (p.Ser1331=)
c.2526A>T (p.Ser842=)
c.3711A>T (p.Ser1237=)
c.3297A>T (p.Ser1099=)
c.3903A>T (p.Ser1301=)
c.4257A>T (p.Ser1419=)
2g.25742260T>CCA425354375ASXL2c.4074A>G (p.Ser1358=)
c.4077A>G (p.Ser1359=)
c.3993A>G (p.Ser1331=)
c.2526A>G (p.Ser842=)
c.3711A>G (p.Ser1237=)
c.3297A>G (p.Ser1099=)
c.3903A>G (p.Ser1301=)
c.4257A>G (p.Ser1419=)
2g.25742260T>GCA425354376ASXL2c.4074A>C (p.Ser1358=)
c.4077A>C (p.Ser1359=)
c.3993A>C (p.Ser1331=)
c.2526A>C (p.Ser842=)
c.3711A>C (p.Ser1237=)
c.3297A>C (p.Ser1099=)
c.3903A>C (p.Ser1301=)
c.4257A>C (p.Ser1419=)
2g.25742261G>ACA346074143ASXL2c.4073C>T (p.Ser1358Leu)
c.4076C>T (p.Ser1359Leu)
c.3992C>T (p.Ser1331Leu)
c.2525C>T (p.Ser842Leu)
c.3710C>T (p.Ser1237Leu)
c.3296C>T (p.Ser1099Leu)
c.3902C>T (p.Ser1301Leu)
c.4256C>T (p.Ser1419Leu)
2g.25742261G>CCA346074141ASXL2c.4073C>G (p.Ser1358Ter)
c.4076C>G (p.Ser1359Ter)
c.3992C>G (p.Ser1331Ter)
c.2525C>G (p.Ser842Ter)
c.3710C>G (p.Ser1237Ter)
c.3296C>G (p.Ser1099Ter)
c.3902C>G (p.Ser1301Ter)
c.4256C>G (p.Ser1419Ter)
2g.25742261G>TCA346074138ASXL2c.4073C>A (p.Ser1358Ter)
c.4076C>A (p.Ser1359Ter)
c.3992C>A (p.Ser1331Ter)
c.2525C>A (p.Ser842Ter)
c.3710C>A (p.Ser1237Ter)
c.3296C>A (p.Ser1099Ter)
c.3902C>A (p.Ser1301Ter)
c.4256C>A (p.Ser1419Ter)
2g.25742262A>CCA346074147ASXL2c.4072T>G (p.Ser1358Ala)
c.4075T>G (p.Ser1359Ala)
c.3991T>G (p.Ser1331Ala)
c.2524T>G (p.Ser842Ala)
c.3709T>G (p.Ser1237Ala)
c.3295T>G (p.Ser1099Ala)
c.3901T>G (p.Ser1301Ala)
c.4255T>G (p.Ser1419Ala)
2g.25742262A>GCA346074151ASXL2c.4072T>C (p.Ser1358Pro)
c.4075T>C (p.Ser1359Pro)
c.3991T>C (p.Ser1331Pro)
c.2524T>C (p.Ser842Pro)
c.3709T>C (p.Ser1237Pro)
c.3295T>C (p.Ser1099Pro)
c.3901T>C (p.Ser1301Pro)
c.4255T>C (p.Ser1419Pro)
2g.25742262A>TCA346074154ASXL2c.4072T>A (p.Ser1358Thr)
c.4075T>A (p.Ser1359Thr)
c.3991T>A (p.Ser1331Thr)
c.2524T>A (p.Ser842Thr)
c.3709T>A (p.Ser1237Thr)
c.3295T>A (p.Ser1099Thr)
c.3901T>A (p.Ser1301Thr)
c.4255T>A (p.Ser1419Thr)
2g.25742263C>ACA346074157ASXL2c.4071G>T (p.Met1357Ile)
c.4074G>T (p.Met1358Ile)
c.3990G>T (p.Met1330Ile)
c.2523G>T (p.Met841Ile)
c.3708G>T (p.Met1236Ile)
c.3294G>T (p.Met1098Ile)
c.3900G>T (p.Met1300Ile)
c.4254G>T (p.Met1418Ile)
2g.25742263C>GCA346074162ASXL2c.4071G>C (p.Met1357Ile)
c.4074G>C (p.Met1358Ile)
c.3990G>C (p.Met1330Ile)
c.2523G>C (p.Met841Ile)
c.3708G>C (p.Met1236Ile)
c.3294G>C (p.Met1098Ile)
c.3900G>C (p.Met1300Ile)
c.4254G>C (p.Met1418Ile)
2g.25742263C>TCA346074165ASXL2c.4071G>A (p.Met1357Ile)
c.4074G>A (p.Met1358Ile)
c.3990G>A (p.Met1330Ile)
c.2523G>A (p.Met841Ile)
c.3708G>A (p.Met1236Ile)
c.3294G>A (p.Met1098Ile)
c.3900G>A (p.Met1300Ile)
c.4254G>A (p.Met1418Ile)
 gnomAD v4
2g.25742264A>CCA346074170ASXL2c.4070T>G (p.Met1357Arg)
c.4073T>G (p.Met1358Arg)
c.3989T>G (p.Met1330Arg)
c.2522T>G (p.Met841Arg)
c.3707T>G (p.Met1236Arg)
c.3293T>G (p.Met1098Arg)
c.3899T>G (p.Met1300Arg)
c.4253T>G (p.Met1418Arg)
2g.25742264A>GCA346074172ASXL2c.4070T>C (p.Met1357Thr)
c.4073T>C (p.Met1358Thr)
c.3989T>C (p.Met1330Thr)
c.2522T>C (p.Met841Thr)
c.3707T>C (p.Met1236Thr)
c.3293T>C (p.Met1098Thr)
c.3899T>C (p.Met1300Thr)
c.4253T>C (p.Met1418Thr)
2g.25742264A>TCA346074175ASXL2c.4070T>A (p.Met1357Lys)
c.4073T>A (p.Met1358Lys)
c.3989T>A (p.Met1330Lys)
c.2522T>A (p.Met841Lys)
c.3707T>A (p.Met1236Lys)
c.3293T>A (p.Met1098Lys)
c.3899T>A (p.Met1300Lys)
c.4253T>A (p.Met1418Lys)
2g.25742265T>ACA346074180ASXL2c.4069A>T (p.Met1357Leu)
c.4072A>T (p.Met1358Leu)
c.3988A>T (p.Met1330Leu)
c.2521A>T (p.Met841Leu)
c.3706A>T (p.Met1236Leu)
c.3292A>T (p.Met1098Leu)
c.3898A>T (p.Met1300Leu)
c.4252A>T (p.Met1418Leu)
2g.25742265T>CCA346074184ASXL2c.4069A>G (p.Met1357Val)
c.4072A>G (p.Met1358Val)
c.3988A>G (p.Met1330Val)
c.2521A>G (p.Met841Val)
c.3706A>G (p.Met1236Val)
c.3292A>G (p.Met1098Val)
c.3898A>G (p.Met1300Val)
c.4252A>G (p.Met1418Val)
 gnomAD v4
2g.25742265T>GCA346074187ASXL2c.4069A>C (p.Met1357Leu)
c.4072A>C (p.Met1358Leu)
c.3988A>C (p.Met1330Leu)
c.2521A>C (p.Met841Leu)
c.3706A>C (p.Met1236Leu)
c.3292A>C (p.Met1098Leu)
c.3898A>C (p.Met1300Leu)
c.4252A>C (p.Met1418Leu)
2g.25742266G>ACA425354389ASXL2c.4068C>T (p.Val1356=)
c.4071C>T (p.Val1357=)
c.3987C>T (p.Val1329=)
c.2520C>T (p.Val840=)
c.3705C>T (p.Val1235=)
c.3291C>T (p.Val1097=)
c.3897C>T (p.Val1299=)
c.4251C>T (p.Val1417=)
 dbSNP gnomAD v2 gnomAD v4
2g.25742266G>CCA425354392ASXL2c.4068C>G (p.Val1356=)
c.4071C>G (p.Val1357=)
c.3987C>G (p.Val1329=)
c.2520C>G (p.Val840=)
c.3705C>G (p.Val1235=)
c.3291C>G (p.Val1097=)
c.3897C>G (p.Val1299=)
c.4251C>G (p.Val1417=)
 gnomAD v4
2g.25742266G=CA1239490379ASXL2c.4068C= (p.Val1356=)
c.4071C= (p.Val1357=)
c.3987C= (p.Val1329=)
c.2520C= (p.Val840=)
c.3705C= (p.Val1235=)
c.3291C= (p.Val1097=)
c.3897C= (p.Val1299=)
c.4251C= (p.Val1417=)
2g.25742266G>TCA425354391ASXL2c.4068C>A (p.Val1356=)
c.4071C>A (p.Val1357=)
c.3987C>A (p.Val1329=)
c.2520C>A (p.Val840=)
c.3705C>A (p.Val1235=)
c.3291C>A (p.Val1097=)
c.3897C>A (p.Val1299=)
c.4251C>A (p.Val1417=)
2g.25742267A>CCA346074198ASXL2c.4067T>G (p.Val1356Gly)
c.4070T>G (p.Val1357Gly)
c.3986T>G (p.Val1329Gly)
c.2519T>G (p.Val840Gly)
c.3704T>G (p.Val1235Gly)
c.3290T>G (p.Val1097Gly)
c.3896T>G (p.Val1299Gly)
c.4250T>G (p.Val1417Gly)
2g.25742267A>GCA346074194ASXL2c.4067T>C (p.Val1356Ala)
c.4070T>C (p.Val1357Ala)
c.3986T>C (p.Val1329Ala)
c.2519T>C (p.Val840Ala)
c.3704T>C (p.Val1235Ala)
c.3290T>C (p.Val1097Ala)
c.3896T>C (p.Val1299Ala)
c.4250T>C (p.Val1417Ala)
2g.25742267A>TCA346074192ASXL2c.4067T>A (p.Val1356Asp)
c.4070T>A (p.Val1357Asp)
c.3986T>A (p.Val1329Asp)
c.2519T>A (p.Val840Asp)
c.3704T>A (p.Val1235Asp)
c.3290T>A (p.Val1097Asp)
c.3896T>A (p.Val1299Asp)
c.4250T>A (p.Val1417Asp)
2g.25742268C>ACA346074208ASXL2c.4066G>T (p.Val1356Phe)
c.4069G>T (p.Val1357Phe)
c.3985G>T (p.Val1329Phe)
c.2518G>T (p.Val840Phe)
c.3703G>T (p.Val1235Phe)
c.3289G>T (p.Val1097Phe)
c.3895G>T (p.Val1299Phe)
c.4249G>T (p.Val1417Phe)
2g.25742268C=CA1239490380ASXL2c.4066G= (p.Val1356=)
c.4069G= (p.Val1357=)
c.3985G= (p.Val1329=)
c.2518G= (p.Val840=)
c.3703G= (p.Val1235=)
c.3289G= (p.Val1097=)
c.3895G= (p.Val1299=)
c.4249G= (p.Val1417=)
2g.25742268C>GCA346074213ASXL2c.4066G>C (p.Val1356Leu)
c.4069G>C (p.Val1357Leu)
c.3985G>C (p.Val1329Leu)
c.2518G>C (p.Val840Leu)
c.3703G>C (p.Val1235Leu)
c.3289G>C (p.Val1097Leu)
c.3895G>C (p.Val1299Leu)
c.4249G>C (p.Val1417Leu)
2g.25742268C>TCA346074211ASXL2c.4066G>A (p.Val1356Ile)
c.4069G>A (p.Val1357Ile)
c.3985G>A (p.Val1329Ile)
c.2518G>A (p.Val840Ile)
c.3703G>A (p.Val1235Ile)
c.3289G>A (p.Val1097Ile)
c.3895G>A (p.Val1299Ile)
c.4249G>A (p.Val1417Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.25742269A=CA1239490381ASXL2c.4065T= (p.Asp1355=)
c.4068T= (p.Asp1356=)
c.3984T= (p.Asp1328=)
c.2517T= (p.Asp839=)
c.3702T= (p.Asp1234=)
c.3288T= (p.Asp1096=)
c.3894T= (p.Asp1298=)
c.4248T= (p.Asp1416=)
2g.25742269A>CCA346074216ASXL2c.4065T>G (p.Asp1355Glu)
c.4068T>G (p.Asp1356Glu)
c.3984T>G (p.Asp1328Glu)
c.2517T>G (p.Asp839Glu)
c.3702T>G (p.Asp1234Glu)
c.3288T>G (p.Asp1096Glu)
c.3894T>G (p.Asp1298Glu)
c.4248T>G (p.Asp1416Glu)
2g.25742269A>GCA43734199ASXL2c.4065T>C (p.Asp1355=)
c.4068T>C (p.Asp1356=)
c.3984T>C (p.Asp1328=)
c.2517T>C (p.Asp839=)
c.3702T>C (p.Asp1234=)
c.3288T>C (p.Asp1096=)
c.3894T>C (p.Asp1298=)
c.4248T>C (p.Asp1416=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.25742269A>TCA346074219ASXL2c.4065T>A (p.Asp1355Glu)
c.4068T>A (p.Asp1356Glu)
c.3984T>A (p.Asp1328Glu)
c.2517T>A (p.Asp839Glu)
c.3702T>A (p.Asp1234Glu)
c.3288T>A (p.Asp1096Glu)
c.3894T>A (p.Asp1298Glu)
c.4248T>A (p.Asp1416Glu)
2g.25742270T>ACA346074226ASXL2c.4064A>T (p.Asp1355Val)
c.4067A>T (p.Asp1356Val)
c.3983A>T (p.Asp1328Val)
c.2516A>T (p.Asp839Val)
c.3701A>T (p.Asp1234Val)
c.3287A>T (p.Asp1096Val)
c.3893A>T (p.Asp1298Val)
c.4247A>T (p.Asp1416Val)
2g.25742270T>CCA1557365ASXL2c.4064A>G (p.Asp1355Gly)
c.4067A>G (p.Asp1356Gly)
c.3983A>G (p.Asp1328Gly)
c.2516A>G (p.Asp839Gly)
c.3701A>G (p.Asp1234Gly)
c.3287A>G (p.Asp1096Gly)
c.3893A>G (p.Asp1298Gly)
c.4247A>G (p.Asp1416Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742270T>GCA346074231ASXL2c.4064A>C (p.Asp1355Ala)
c.4067A>C (p.Asp1356Ala)
c.3983A>C (p.Asp1328Ala)
c.2516A>C (p.Asp839Ala)
c.3701A>C (p.Asp1234Ala)
c.3287A>C (p.Asp1096Ala)
c.3893A>C (p.Asp1298Ala)
c.4247A>C (p.Asp1416Ala)
2g.25742270T=CA1239490382ASXL2c.4064A= (p.Asp1355=)
c.4067A= (p.Asp1356=)
c.3983A= (p.Asp1328=)
c.2516A= (p.Asp839=)
c.3701A= (p.Asp1234=)
c.3287A= (p.Asp1096=)
c.3893A= (p.Asp1298=)
c.4247A= (p.Asp1416=)
2g.25742271C>ACA346074236ASXL2c.4063G>T (p.Asp1355Tyr)
c.4066G>T (p.Asp1356Tyr)
c.3982G>T (p.Asp1328Tyr)
c.2515G>T (p.Asp839Tyr)
c.3700G>T (p.Asp1234Tyr)
c.3286G>T (p.Asp1096Tyr)
c.3892G>T (p.Asp1298Tyr)
c.4246G>T (p.Asp1416Tyr)
2g.25742271C>GCA346074238ASXL2c.4063G>C (p.Asp1355His)
c.4066G>C (p.Asp1356His)
c.3982G>C (p.Asp1328His)
c.2515G>C (p.Asp839His)
c.3700G>C (p.Asp1234His)
c.3286G>C (p.Asp1096His)
c.3892G>C (p.Asp1298His)
c.4246G>C (p.Asp1416His)
2g.25742271C>TCA346074242ASXL2c.4063G>A (p.Asp1355Asn)
c.4066G>A (p.Asp1356Asn)
c.3982G>A (p.Asp1328Asn)
c.2515G>A (p.Asp839Asn)
c.3700G>A (p.Asp1234Asn)
c.3286G>A (p.Asp1096Asn)
c.3892G>A (p.Asp1298Asn)
c.4246G>A (p.Asp1416Asn)
2g.25742272A=CA1239490383ASXL2c.4062T= (p.Gly1354=)
c.4065T= (p.Gly1355=)
c.3981T= (p.Gly1327=)
c.2514T= (p.Gly838=)
c.3699T= (p.Gly1233=)
c.3285T= (p.Gly1095=)
c.3891T= (p.Gly1297=)
c.4245T= (p.Gly1415=)
2g.25742272A>CCA1557366ASXL2c.4062T>G (p.Gly1354=)
c.4065T>G (p.Gly1355=)
c.3981T>G (p.Gly1327=)
c.2514T>G (p.Gly838=)
c.3699T>G (p.Gly1233=)
c.3285T>G (p.Gly1095=)
c.3891T>G (p.Gly1297=)
c.4245T>G (p.Gly1415=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742272A>GCA425354408ASXL2c.4062T>C (p.Gly1354=)
c.4065T>C (p.Gly1355=)
c.3981T>C (p.Gly1327=)
c.2514T>C (p.Gly838=)
c.3699T>C (p.Gly1233=)
c.3285T>C (p.Gly1095=)
c.3891T>C (p.Gly1297=)
c.4245T>C (p.Gly1415=)
 gnomAD v4
2g.25742272A>TCA425354409ASXL2c.4062T>A (p.Gly1354=)
c.4065T>A (p.Gly1355=)
c.3981T>A (p.Gly1327=)
c.2514T>A (p.Gly838=)
c.3699T>A (p.Gly1233=)
c.3285T>A (p.Gly1095=)
c.3891T>A (p.Gly1297=)
c.4245T>A (p.Gly1415=)
2g.25742273C>ACA346074247ASXL2c.4061G>T (p.Gly1354Val)
c.4064G>T (p.Gly1355Val)
c.3980G>T (p.Gly1327Val)
c.2513G>T (p.Gly838Val)
c.3698G>T (p.Gly1233Val)
c.3284G>T (p.Gly1095Val)
c.3890G>T (p.Gly1297Val)
c.4244G>T (p.Gly1415Val)
2g.25742273C=CA1239490384ASXL2c.4061G= (p.Gly1354=)
c.4064G= (p.Gly1355=)
c.3980G= (p.Gly1327=)
c.2513G= (p.Gly838=)
c.3698G= (p.Gly1233=)
c.3284G= (p.Gly1095=)
c.3890G= (p.Gly1297=)
c.4244G= (p.Gly1415=)
2g.25742273C>GCA346074249ASXL2c.4061G>C (p.Gly1354Ala)
c.4064G>C (p.Gly1355Ala)
c.3980G>C (p.Gly1327Ala)
c.2513G>C (p.Gly838Ala)
c.3698G>C (p.Gly1233Ala)
c.3284G>C (p.Gly1095Ala)
c.3890G>C (p.Gly1297Ala)
c.4244G>C (p.Gly1415Ala)
2g.25742273C>TCA1557367ASXL2c.4061G>A (p.Gly1354Asp)
c.4064G>A (p.Gly1355Asp)
c.3980G>A (p.Gly1327Asp)
c.2513G>A (p.Gly838Asp)
c.3698G>A (p.Gly1233Asp)
c.3284G>A (p.Gly1095Asp)
c.3890G>A (p.Gly1297Asp)
c.4244G>A (p.Gly1415Asp)
 dbSNP ExAC gnomAD v2
2g.25742274C>ACA346074258ASXL2c.4060G>T (p.Gly1354Cys)
c.4063G>T (p.Gly1355Cys)
c.3979G>T (p.Gly1327Cys)
c.2512G>T (p.Gly838Cys)
c.3697G>T (p.Gly1233Cys)
c.3283G>T (p.Gly1095Cys)
c.3889G>T (p.Gly1297Cys)
c.4243G>T (p.Gly1415Cys)
2g.25742274C=CA1239490385ASXL2c.4060G= (p.Gly1354=)
c.4063G= (p.Gly1355=)
c.3979G= (p.Gly1327=)
c.2512G= (p.Gly838=)
c.3697G= (p.Gly1233=)
c.3283G= (p.Gly1095=)
c.3889G= (p.Gly1297=)
c.4243G= (p.Gly1415=)
2g.25742274C>GCA346074253ASXL2c.4060G>C (p.Gly1354Arg)
c.4063G>C (p.Gly1355Arg)
c.3979G>C (p.Gly1327Arg)
c.2512G>C (p.Gly838Arg)
c.3697G>C (p.Gly1233Arg)
c.3283G>C (p.Gly1095Arg)
c.3889G>C (p.Gly1297Arg)
c.4243G>C (p.Gly1415Arg)
2g.25742274C>TCA1557368ASXL2c.4060G>A (p.Gly1354Ser)
c.4063G>A (p.Gly1355Ser)
c.3979G>A (p.Gly1327Ser)
c.2512G>A (p.Gly838Ser)
c.3697G>A (p.Gly1233Ser)
c.3283G>A (p.Gly1095Ser)
c.3889G>A (p.Gly1297Ser)
c.4243G>A (p.Gly1415Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742275T>ACA425354421ASXL2c.4059A>T (p.Val1353=)
c.4062A>T (p.Val1354=)
c.3978A>T (p.Val1326=)
c.2511A>T (p.Val837=)
c.3696A>T (p.Val1232=)
c.3282A>T (p.Val1094=)
c.3888A>T (p.Val1296=)
c.4242A>T (p.Val1414=)
2g.25742275T>CCA425354423ASXL2c.4059A>G (p.Val1353=)
c.4062A>G (p.Val1354=)
c.3978A>G (p.Val1326=)
c.2511A>G (p.Val837=)
c.3696A>G (p.Val1232=)
c.3282A>G (p.Val1094=)
c.3888A>G (p.Val1296=)
c.4242A>G (p.Val1414=)
2g.25742275T>GCA425354429ASXL2c.4059A>C (p.Val1353=)
c.4062A>C (p.Val1354=)
c.3978A>C (p.Val1326=)
c.2511A>C (p.Val837=)
c.3696A>C (p.Val1232=)
c.3282A>C (p.Val1094=)
c.3888A>C (p.Val1296=)
c.4242A>C (p.Val1414=)
2g.25742276A=CA1239490386ASXL2c.4058T= (p.Val1353=)
c.4061T= (p.Val1354=)
c.3977T= (p.Val1326=)
c.2510T= (p.Val837=)
c.3695T= (p.Val1232=)
c.3281T= (p.Val1094=)
c.3887T= (p.Val1296=)
c.4241T= (p.Val1414=)
2g.25742276A>CCA346074261ASXL2c.4058T>G (p.Val1353Gly)
c.4061T>G (p.Val1354Gly)
c.3977T>G (p.Val1326Gly)
c.2510T>G (p.Val837Gly)
c.3695T>G (p.Val1232Gly)
c.3281T>G (p.Val1094Gly)
c.3887T>G (p.Val1296Gly)
c.4241T>G (p.Val1414Gly)
2g.25742276A>GCA1557369ASXL2c.4058T>C (p.Val1353Ala)
c.4061T>C (p.Val1354Ala)
c.3977T>C (p.Val1326Ala)
c.2510T>C (p.Val837Ala)
c.3695T>C (p.Val1232Ala)
c.3281T>C (p.Val1094Ala)
c.3887T>C (p.Val1296Ala)
c.4241T>C (p.Val1414Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742276A>TCA346074266ASXL2c.4058T>A (p.Val1353Glu)
c.4061T>A (p.Val1354Glu)
c.3977T>A (p.Val1326Glu)
c.2510T>A (p.Val837Glu)
c.3695T>A (p.Val1232Glu)
c.3281T>A (p.Val1094Glu)
c.3887T>A (p.Val1296Glu)
c.4241T>A (p.Val1414Glu)
2g.25742277C>ACA346074270ASXL2c.4057G>T (p.Val1353Leu)
c.4060G>T (p.Val1354Leu)
c.3976G>T (p.Val1326Leu)
c.2509G>T (p.Val837Leu)
c.3694G>T (p.Val1232Leu)
c.3280G>T (p.Val1094Leu)
c.3886G>T (p.Val1296Leu)
c.4240G>T (p.Val1414Leu)
2g.25742277C>GCA346074273ASXL2c.4057G>C (p.Val1353Leu)
c.4060G>C (p.Val1354Leu)
c.3976G>C (p.Val1326Leu)
c.2509G>C (p.Val837Leu)
c.3694G>C (p.Val1232Leu)
c.3280G>C (p.Val1094Leu)
c.3886G>C (p.Val1296Leu)
c.4240G>C (p.Val1414Leu)
2g.25742277C>TCA346074276ASXL2c.4057G>A (p.Val1353Ile)
c.4060G>A (p.Val1354Ile)
c.3976G>A (p.Val1326Ile)
c.2509G>A (p.Val837Ile)
c.3694G>A (p.Val1232Ile)
c.3280G>A (p.Val1094Ile)
c.3886G>A (p.Val1296Ile)
c.4240G>A (p.Val1414Ile)
2g.25742278A>CCA346074280ASXL2c.4056T>G (p.Asn1352Lys)
c.4059T>G (p.Asn1353Lys)
c.3975T>G (p.Asn1325Lys)
c.2508T>G (p.Asn836Lys)
c.3693T>G (p.Asn1231Lys)
c.3279T>G (p.Asn1093Lys)
c.3885T>G (p.Asn1295Lys)
c.4239T>G (p.Asn1413Lys)
2g.25742278A>GCA425354433ASXL2c.4056T>C (p.Asn1352=)
c.4059T>C (p.Asn1353=)
c.3975T>C (p.Asn1325=)
c.2508T>C (p.Asn836=)
c.3693T>C (p.Asn1231=)
c.3279T>C (p.Asn1093=)
c.3885T>C (p.Asn1295=)
c.4239T>C (p.Asn1413=)
2g.25742278A>TCA346074282ASXL2c.4056T>A (p.Asn1352Lys)
c.4059T>A (p.Asn1353Lys)
c.3975T>A (p.Asn1325Lys)
c.2508T>A (p.Asn836Lys)
c.3693T>A (p.Asn1231Lys)
c.3279T>A (p.Asn1093Lys)
c.3885T>A (p.Asn1295Lys)
c.4239T>A (p.Asn1413Lys)
2g.25742279T>ACA346074287ASXL2c.4055A>T (p.Asn1352Ile)
c.4058A>T (p.Asn1353Ile)
c.3974A>T (p.Asn1325Ile)
c.2507A>T (p.Asn836Ile)
c.3692A>T (p.Asn1231Ile)
c.3278A>T (p.Asn1093Ile)
c.3884A>T (p.Asn1295Ile)
c.4238A>T (p.Asn1413Ile)
 dbSNP
2g.25742279T>CCA43734208ASXL2c.4055A>G (p.Asn1352Ser)
c.4058A>G (p.Asn1353Ser)
c.3974A>G (p.Asn1325Ser)
c.2507A>G (p.Asn836Ser)
c.3692A>G (p.Asn1231Ser)
c.3278A>G (p.Asn1093Ser)
c.3884A>G (p.Asn1295Ser)
c.4238A>G (p.Asn1413Ser)
 dbSNP gnomAD v4
2g.25742279T>GCA346074291ASXL2c.4055A>C (p.Asn1352Thr)
c.4058A>C (p.Asn1353Thr)
c.3974A>C (p.Asn1325Thr)
c.2507A>C (p.Asn836Thr)
c.3692A>C (p.Asn1231Thr)
c.3278A>C (p.Asn1093Thr)
c.3884A>C (p.Asn1295Thr)
c.4238A>C (p.Asn1413Thr)
2g.25742279T=CA1239490387ASXL2c.4055A= (p.Asn1352=)
c.4058A= (p.Asn1353=)
c.3974A= (p.Asn1325=)
c.2507A= (p.Asn836=)
c.3692A= (p.Asn1231=)
c.3278A= (p.Asn1093=)
c.3884A= (p.Asn1295=)
c.4238A= (p.Asn1413=)
2g.25742280T>ACA346074301ASXL2c.4054A>T (p.Asn1352Tyr)
c.4057A>T (p.Asn1353Tyr)
c.3973A>T (p.Asn1325Tyr)
c.2506A>T (p.Asn836Tyr)
c.3691A>T (p.Asn1231Tyr)
c.3277A>T (p.Asn1093Tyr)
c.3883A>T (p.Asn1295Tyr)
c.4237A>T (p.Asn1413Tyr)
2g.25742280T>CCA346074298ASXL2c.4054A>G (p.Asn1352Asp)
c.4057A>G (p.Asn1353Asp)
c.3973A>G (p.Asn1325Asp)
c.2506A>G (p.Asn836Asp)
c.3691A>G (p.Asn1231Asp)
c.3277A>G (p.Asn1093Asp)
c.3883A>G (p.Asn1295Asp)
c.4237A>G (p.Asn1413Asp)
2g.25742280T>GCA346074297ASXL2c.4054A>C (p.Asn1352His)
c.4057A>C (p.Asn1353His)
c.3973A>C (p.Asn1325His)
c.2506A>C (p.Asn836His)
c.3691A>C (p.Asn1231His)
c.3277A>C (p.Asn1093His)
c.3883A>C (p.Asn1295His)
c.4237A>C (p.Asn1413His)
2g.25742281G>ACA425354440ASXL2c.4053C>T (p.Ser1351=)
c.4056C>T (p.Ser1352=)
c.3972C>T (p.Ser1324=)
c.2505C>T (p.Ser835=)
c.3690C>T (p.Ser1230=)
c.3276C>T (p.Ser1092=)
c.3882C>T (p.Ser1294=)
c.4236C>T (p.Ser1412=)
2g.25742281G>CCA346074303ASXL2c.4053C>G (p.Ser1351Arg)
c.4056C>G (p.Ser1352Arg)
c.3972C>G (p.Ser1324Arg)
c.2505C>G (p.Ser835Arg)
c.3690C>G (p.Ser1230Arg)
c.3276C>G (p.Ser1092Arg)
c.3882C>G (p.Ser1294Arg)
c.4236C>G (p.Ser1412Arg)
2g.25742281G>TCA346074316ASXL2c.4053C>A (p.Ser1351Arg)
c.4056C>A (p.Ser1352Arg)
c.3972C>A (p.Ser1324Arg)
c.2505C>A (p.Ser835Arg)
c.3690C>A (p.Ser1230Arg)
c.3276C>A (p.Ser1092Arg)
c.3882C>A (p.Ser1294Arg)
c.4236C>A (p.Ser1412Arg)
2g.25742282C>ACA346074319ASXL2c.4052G>T (p.Ser1351Ile)
c.4055G>T (p.Ser1352Ile)
c.3971G>T (p.Ser1324Ile)
c.2504G>T (p.Ser835Ile)
c.3689G>T (p.Ser1230Ile)
c.3275G>T (p.Ser1092Ile)
c.3881G>T (p.Ser1294Ile)
c.4235G>T (p.Ser1412Ile)
2g.25742282C>GCA346074322ASXL2c.4052G>C (p.Ser1351Thr)
c.4055G>C (p.Ser1352Thr)
c.3971G>C (p.Ser1324Thr)
c.2504G>C (p.Ser835Thr)
c.3689G>C (p.Ser1230Thr)
c.3275G>C (p.Ser1092Thr)
c.3881G>C (p.Ser1294Thr)
c.4235G>C (p.Ser1412Thr)
2g.25742282C>TCA346074325ASXL2c.4052G>A (p.Ser1351Asn)
c.4055G>A (p.Ser1352Asn)
c.3971G>A (p.Ser1324Asn)
c.2504G>A (p.Ser835Asn)
c.3689G>A (p.Ser1230Asn)
c.3275G>A (p.Ser1092Asn)
c.3881G>A (p.Ser1294Asn)
c.4235G>A (p.Ser1412Asn)
 gnomAD v4
2g.25742283T>ACA346074335ASXL2c.4051A>T (p.Ser1351Cys)
c.4054A>T (p.Ser1352Cys)
c.3970A>T (p.Ser1324Cys)
c.2503A>T (p.Ser835Cys)
c.3688A>T (p.Ser1230Cys)
c.3274A>T (p.Ser1092Cys)
c.3880A>T (p.Ser1294Cys)
c.4234A>T (p.Ser1412Cys)
2g.25742283T>CCA346074332ASXL2c.4051A>G (p.Ser1351Gly)
c.4054A>G (p.Ser1352Gly)
c.3970A>G (p.Ser1324Gly)
c.2503A>G (p.Ser835Gly)
c.3688A>G (p.Ser1230Gly)
c.3274A>G (p.Ser1092Gly)
c.3880A>G (p.Ser1294Gly)
c.4234A>G (p.Ser1412Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.25742283T>GCA346074330ASXL2c.4051A>C (p.Ser1351Arg)
c.4054A>C (p.Ser1352Arg)
c.3970A>C (p.Ser1324Arg)
c.2503A>C (p.Ser835Arg)
c.3688A>C (p.Ser1230Arg)
c.3274A>C (p.Ser1092Arg)
c.3880A>C (p.Ser1294Arg)
c.4234A>C (p.Ser1412Arg)
2g.25742283T=CA1239490388ASXL2c.4051A= (p.Ser1351=)
c.4054A= (p.Ser1352=)
c.3970A= (p.Ser1324=)
c.2503A= (p.Ser835=)
c.3688A= (p.Ser1230=)
c.3274A= (p.Ser1092=)
c.3880A= (p.Ser1294=)
c.4234A= (p.Ser1412=)
2g.25742284A>CCA425354449ASXL2c.4050T>G (p.Ser1350=)
c.4053T>G (p.Ser1351=)
c.3969T>G (p.Ser1323=)
c.2502T>G (p.Ser834=)
c.3687T>G (p.Ser1229=)
c.3273T>G (p.Ser1091=)
c.3879T>G (p.Ser1293=)
c.4233T>G (p.Ser1411=)
2g.25742284A>GCA425354450ASXL2c.4050T>C (p.Ser1350=)
c.4053T>C (p.Ser1351=)
c.3969T>C (p.Ser1323=)
c.2502T>C (p.Ser834=)
c.3687T>C (p.Ser1229=)
c.3273T>C (p.Ser1091=)
c.3879T>C (p.Ser1293=)
c.4233T>C (p.Ser1411=)
2g.25742284A>TCA425354451ASXL2c.4050T>A (p.Ser1350=)
c.4053T>A (p.Ser1351=)
c.3969T>A (p.Ser1323=)
c.2502T>A (p.Ser834=)
c.3687T>A (p.Ser1229=)
c.3273T>A (p.Ser1091=)
c.3879T>A (p.Ser1293=)
c.4233T>A (p.Ser1411=)
2g.25742285G>ACA1557370ASXL2c.4049C>T (p.Ser1350Phe)
c.4052C>T (p.Ser1351Phe)
c.3968C>T (p.Ser1323Phe)
c.2501C>T (p.Ser834Phe)
c.3686C>T (p.Ser1229Phe)
c.3272C>T (p.Ser1091Phe)
c.3878C>T (p.Ser1293Phe)
c.4232C>T (p.Ser1411Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742285G>CCA346074343ASXL2c.4049C>G (p.Ser1350Cys)
c.4052C>G (p.Ser1351Cys)
c.3968C>G (p.Ser1323Cys)
c.2501C>G (p.Ser834Cys)
c.3686C>G (p.Ser1229Cys)
c.3272C>G (p.Ser1091Cys)
c.3878C>G (p.Ser1293Cys)
c.4232C>G (p.Ser1411Cys)
2g.25742285G=CA1239490389ASXL2c.4049C= (p.Ser1350=)
c.4052C= (p.Ser1351=)
c.3968C= (p.Ser1323=)
c.2501C= (p.Ser834=)
c.3686C= (p.Ser1229=)
c.3272C= (p.Ser1091=)
c.3878C= (p.Ser1293=)
c.4232C= (p.Ser1411=)
2g.25742285G>TCA346074346ASXL2c.4049C>A (p.Ser1350Tyr)
c.4052C>A (p.Ser1351Tyr)
c.3968C>A (p.Ser1323Tyr)
c.2501C>A (p.Ser834Tyr)
c.3686C>A (p.Ser1229Tyr)
c.3272C>A (p.Ser1091Tyr)
c.3878C>A (p.Ser1293Tyr)
c.4232C>A (p.Ser1411Tyr)
2g.25742286A=CA1239490391ASXL2c.4048T= (p.Ser1350=)
c.4051T= (p.Ser1351=)
c.3967T= (p.Ser1323=)
c.2500T= (p.Ser834=)
c.3685T= (p.Ser1229=)
c.3271T= (p.Ser1091=)
c.3877T= (p.Ser1293=)
c.4231T= (p.Ser1411=)
2g.25742286A>CCA346074349ASXL2c.4048T>G (p.Ser1350Ala)
c.4051T>G (p.Ser1351Ala)
c.3967T>G (p.Ser1323Ala)
c.2500T>G (p.Ser834Ala)
c.3685T>G (p.Ser1229Ala)
c.3271T>G (p.Ser1091Ala)
c.3877T>G (p.Ser1293Ala)
c.4231T>G (p.Ser1411Ala)
2g.25742286A>GCA346074352ASXL2c.4048T>C (p.Ser1350Pro)
c.4051T>C (p.Ser1351Pro)
c.3967T>C (p.Ser1323Pro)
c.2500T>C (p.Ser834Pro)
c.3685T>C (p.Ser1229Pro)
c.3271T>C (p.Ser1091Pro)
c.3877T>C (p.Ser1293Pro)
c.4231T>C (p.Ser1411Pro)
2g.25742286A>TCA346074355ASXL2c.4048T>A (p.Ser1350Thr)
c.4051T>A (p.Ser1351Thr)
c.3967T>A (p.Ser1323Thr)
c.2500T>A (p.Ser834Thr)
c.3685T>A (p.Ser1229Thr)
c.3271T>A (p.Ser1091Thr)
c.3877T>A (p.Ser1293Thr)
c.4231T>A (p.Ser1411Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.25742286_25742294delinsATACCTGGCCA1239490390ASXL2c.4040_4048delinsGCCAGGTAT (p.Ser1347=)
c.4043_4051delinsGCCAGGTAT (p.Ser1348=)
c.3959_3967delinsGCCAGGTAT (p.Ser1320=)
c.2492_2500delinsGCCAGGTAT (p.Ser831=)
c.3677_3685delinsGCCAGGTAT (p.Ser1226=)
c.3263_3271delinsGCCAGGTAT (p.Ser1088=)
c.3869_3877delinsGCCAGGTAT (p.Ser1290=)
c.4223_4231delinsGCCAGGTAT (p.Ser1408=)
2g.25742287T>ACA425354454ASXL2c.4047A>T (p.Val1349=)
c.4050A>T (p.Val1350=)
c.3966A>T (p.Val1322=)
c.2499A>T (p.Val833=)
c.3684A>T (p.Val1228=)
c.3270A>T (p.Val1090=)
c.3876A>T (p.Val1292=)
c.4230A>T (p.Val1410=)
2g.25742287T>CCA425354455ASXL2c.4047A>G (p.Val1349=)
c.4050A>G (p.Val1350=)
c.3966A>G (p.Val1322=)
c.2499A>G (p.Val833=)
c.3684A>G (p.Val1228=)
c.3270A>G (p.Val1090=)
c.3876A>G (p.Val1292=)
c.4230A>G (p.Val1410=)
 COSMIC COSMIC
2g.25742287T>GCA425354456ASXL2c.4047A>C (p.Val1349=)
c.4050A>C (p.Val1350=)
c.3966A>C (p.Val1322=)
c.2499A>C (p.Val833=)
c.3684A>C (p.Val1228=)
c.3270A>C (p.Val1090=)
c.3876A>C (p.Val1292=)
c.4230A>C (p.Val1410=)
2g.25742294_25742301delCA1557371ASXL2c.4040_4047del (p.Ser1347IlefsTer2)
c.4043_4050del (p.Ser1348IlefsTer2)
c.3959_3966del (p.Ser1320IlefsTer2)
c.2492_2499del (p.Ser831IlefsTer2)
c.3677_3684del (p.Ser1226IlefsTer2)
c.3263_3270del (p.Ser1088IlefsTer2)
c.3869_3876del (p.Ser1290IlefsTer2)
c.4223_4230del (p.Ser1408IlefsTer2)
 dbSNP ExAC
2g.25742288A>CCA346074371ASXL2c.4046T>G (p.Val1349Gly)
c.4049T>G (p.Val1350Gly)
c.3965T>G (p.Val1322Gly)
c.2498T>G (p.Val833Gly)
c.3683T>G (p.Val1228Gly)
c.3269T>G (p.Val1090Gly)
c.3875T>G (p.Val1292Gly)
c.4229T>G (p.Val1410Gly)
2g.25742288A>GCA346074367ASXL2c.4046T>C (p.Val1349Ala)
c.4049T>C (p.Val1350Ala)
c.3965T>C (p.Val1322Ala)
c.2498T>C (p.Val833Ala)
c.3683T>C (p.Val1228Ala)
c.3269T>C (p.Val1090Ala)
c.3875T>C (p.Val1292Ala)
c.4229T>C (p.Val1410Ala)
 gnomAD v4
2g.25742288A>TCA346074369ASXL2c.4046T>A (p.Val1349Glu)
c.4049T>A (p.Val1350Glu)
c.3965T>A (p.Val1322Glu)
c.2498T>A (p.Val833Glu)
c.3683T>A (p.Val1228Glu)
c.3269T>A (p.Val1090Glu)
c.3875T>A (p.Val1292Glu)
c.4229T>A (p.Val1410Glu)
2g.25742289C>ACA346074372ASXL2c.4045G>T (p.Val1349Leu)
c.4048G>T (p.Val1350Leu)
c.3964G>T (p.Val1322Leu)
c.2497G>T (p.Val833Leu)
c.3682G>T (p.Val1228Leu)
c.3268G>T (p.Val1090Leu)
c.3874G>T (p.Val1292Leu)
c.4228G>T (p.Val1410Leu)
2g.25742289C>GCA346074373ASXL2c.4045G>C (p.Val1349Leu)
c.4048G>C (p.Val1350Leu)
c.3964G>C (p.Val1322Leu)
c.2497G>C (p.Val833Leu)
c.3682G>C (p.Val1228Leu)
c.3268G>C (p.Val1090Leu)
c.3874G>C (p.Val1292Leu)
c.4228G>C (p.Val1410Leu)
2g.25742289C>TCA346074375ASXL2c.4045G>A (p.Val1349Ile)
c.4048G>A (p.Val1350Ile)
c.3964G>A (p.Val1322Ile)
c.2497G>A (p.Val833Ile)
c.3682G>A (p.Val1228Ile)
c.3268G>A (p.Val1090Ile)
c.3874G>A (p.Val1292Ile)
c.4228G>A (p.Val1410Ile)
2g.25742290C>ACA1557372ASXL2c.4044G>T (p.Gln1348His)
c.4047G>T (p.Gln1349His)
c.3963G>T (p.Gln1321His)
c.2496G>T (p.Gln832His)
c.3681G>T (p.Gln1227His)
c.3267G>T (p.Gln1089His)
c.3873G>T (p.Gln1291His)
c.4227G>T (p.Gln1409His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742290C=CA1239490392ASXL2c.4044G= (p.Gln1348=)
c.4047G= (p.Gln1349=)
c.3963G= (p.Gln1321=)
c.2496G= (p.Gln832=)
c.3681G= (p.Gln1227=)
c.3267G= (p.Gln1089=)
c.3873G= (p.Gln1291=)
c.4227G= (p.Gln1409=)
2g.25742290C>GCA1557373ASXL2c.4044G>C (p.Gln1348His)
c.4047G>C (p.Gln1349His)
c.3963G>C (p.Gln1321His)
c.2496G>C (p.Gln832His)
c.3681G>C (p.Gln1227His)
c.3267G>C (p.Gln1089His)
c.3873G>C (p.Gln1291His)
c.4227G>C (p.Gln1409His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742290C>TCA43734215ASXL2c.4044G>A (p.Gln1348=)
c.4047G>A (p.Gln1349=)
c.3963G>A (p.Gln1321=)
c.2496G>A (p.Gln832=)
c.3681G>A (p.Gln1227=)
c.3267G>A (p.Gln1089=)
c.3873G>A (p.Gln1291=)
c.4227G>A (p.Gln1409=)
 dbSNP
2g.25742291T>ACA346074381ASXL2c.4043A>T (p.Gln1348Leu)
c.4046A>T (p.Gln1349Leu)
c.3962A>T (p.Gln1321Leu)
c.2495A>T (p.Gln832Leu)
c.3680A>T (p.Gln1227Leu)
c.3266A>T (p.Gln1089Leu)
c.3872A>T (p.Gln1291Leu)
c.4226A>T (p.Gln1409Leu)
2g.25742291T>CCA1557374ASXL2c.4043A>G (p.Gln1348Arg)
c.4046A>G (p.Gln1349Arg)
c.3962A>G (p.Gln1321Arg)
c.2495A>G (p.Gln832Arg)
c.3680A>G (p.Gln1227Arg)
c.3266A>G (p.Gln1089Arg)
c.3872A>G (p.Gln1291Arg)
c.4226A>G (p.Gln1409Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742291T>GCA346074384ASXL2c.4043A>C (p.Gln1348Pro)
c.4046A>C (p.Gln1349Pro)
c.3962A>C (p.Gln1321Pro)
c.2495A>C (p.Gln832Pro)
c.3680A>C (p.Gln1227Pro)
c.3266A>C (p.Gln1089Pro)
c.3872A>C (p.Gln1291Pro)
c.4226A>C (p.Gln1409Pro)
2g.25742291T=CA1239490393ASXL2c.4043A= (p.Gln1348=)
c.4046A= (p.Gln1349=)
c.3962A= (p.Gln1321=)
c.2495A= (p.Gln832=)
c.3680A= (p.Gln1227=)
c.3266A= (p.Gln1089=)
c.3872A= (p.Gln1291=)
c.4226A= (p.Gln1409=)
2g.25742292G>ACA346074386ASXL2c.4042C>T (p.Gln1348Ter)
c.4045C>T (p.Gln1349Ter)
c.3961C>T (p.Gln1321Ter)
c.2494C>T (p.Gln832Ter)
c.3679C>T (p.Gln1227Ter)
c.3265C>T (p.Gln1089Ter)
c.3871C>T (p.Gln1291Ter)
c.4225C>T (p.Gln1409Ter)
2g.25742292G>CCA346074389ASXL2c.4042C>G (p.Gln1348Glu)
c.4045C>G (p.Gln1349Glu)
c.3961C>G (p.Gln1321Glu)
c.2494C>G (p.Gln832Glu)
c.3679C>G (p.Gln1227Glu)
c.3265C>G (p.Gln1089Glu)
c.3871C>G (p.Gln1291Glu)
c.4225C>G (p.Gln1409Glu)
2g.25742292G>TCA346074387ASXL2c.4042C>A (p.Gln1348Lys)
c.4045C>A (p.Gln1349Lys)
c.3961C>A (p.Gln1321Lys)
c.2494C>A (p.Gln832Lys)
c.3679C>A (p.Gln1227Lys)
c.3265C>A (p.Gln1089Lys)
c.3871C>A (p.Gln1291Lys)
c.4225C>A (p.Gln1409Lys)
2g.25742293G>ACA1557375ASXL2c.4041C>T (p.Ser1347=)
c.4044C>T (p.Ser1348=)
c.3960C>T (p.Ser1320=)
c.2493C>T (p.Ser831=)
c.3678C>T (p.Ser1226=)
c.3264C>T (p.Ser1088=)
c.3870C>T (p.Ser1290=)
c.4224C>T (p.Ser1408=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742293G>CCA346074395ASXL2c.4041C>G (p.Ser1347Arg)
c.4044C>G (p.Ser1348Arg)
c.3960C>G (p.Ser1320Arg)
c.2493C>G (p.Ser831Arg)
c.3678C>G (p.Ser1226Arg)
c.3264C>G (p.Ser1088Arg)
c.3870C>G (p.Ser1290Arg)
c.4224C>G (p.Ser1408Arg)
2g.25742293G=CA1239490394ASXL2c.4041C= (p.Ser1347=)
c.4044C= (p.Ser1348=)
c.3960C= (p.Ser1320=)
c.2493C= (p.Ser831=)
c.3678C= (p.Ser1226=)
c.3264C= (p.Ser1088=)
c.3870C= (p.Ser1290=)
c.4224C= (p.Ser1408=)
2g.25742293G>TCA346074393ASXL2c.4041C>A (p.Ser1347Arg)
c.4044C>A (p.Ser1348Arg)
c.3960C>A (p.Ser1320Arg)
c.2493C>A (p.Ser831Arg)
c.3678C>A (p.Ser1226Arg)
c.3264C>A (p.Ser1088Arg)
c.3870C>A (p.Ser1290Arg)
c.4224C>A (p.Ser1408Arg)
2g.25742294C>ACA346074397ASXL2c.4040G>T (p.Ser1347Ile)
c.4043G>T (p.Ser1348Ile)
c.3959G>T (p.Ser1320Ile)
c.2492G>T (p.Ser831Ile)
c.3677G>T (p.Ser1226Ile)
c.3263G>T (p.Ser1088Ile)
c.3869G>T (p.Ser1290Ile)
c.4223G>T (p.Ser1408Ile)
2g.25742294C=CA1239490395ASXL2c.4040G= (p.Ser1347=)
c.4043G= (p.Ser1348=)
c.3959G= (p.Ser1320=)
c.2492G= (p.Ser831=)
c.3677G= (p.Ser1226=)
c.3263G= (p.Ser1088=)
c.3869G= (p.Ser1290=)
c.4223G= (p.Ser1408=)
2g.25742294C>GCA346074402ASXL2c.4040G>C (p.Ser1347Thr)
c.4043G>C (p.Ser1348Thr)
c.3959G>C (p.Ser1320Thr)
c.2492G>C (p.Ser831Thr)
c.3677G>C (p.Ser1226Thr)
c.3263G>C (p.Ser1088Thr)
c.3869G>C (p.Ser1290Thr)
c.4223G>C (p.Ser1408Thr)
2g.25742294C>TCA346074400ASXL2c.4040G>A (p.Ser1347Asn)
c.4043G>A (p.Ser1348Asn)
c.3959G>A (p.Ser1320Asn)
c.2492G>A (p.Ser831Asn)
c.3677G>A (p.Ser1226Asn)
c.3263G>A (p.Ser1088Asn)
c.3869G>A (p.Ser1290Asn)
c.4223G>A (p.Ser1408Asn)
 dbSNP
2g.25742295T>ACA346074404ASXL2c.4039A>T (p.Ser1347Cys)
c.4042A>T (p.Ser1348Cys)
c.3958A>T (p.Ser1320Cys)
c.2491A>T (p.Ser831Cys)
c.3676A>T (p.Ser1226Cys)
c.3262A>T (p.Ser1088Cys)
c.3868A>T (p.Ser1290Cys)
c.4222A>T (p.Ser1408Cys)
2g.25742295T>CCA346074409ASXL2c.4039A>G (p.Ser1347Gly)
c.4042A>G (p.Ser1348Gly)
c.3958A>G (p.Ser1320Gly)
c.2491A>G (p.Ser831Gly)
c.3676A>G (p.Ser1226Gly)
c.3262A>G (p.Ser1088Gly)
c.3868A>G (p.Ser1290Gly)
c.4222A>G (p.Ser1408Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.25742295T>GCA346074407ASXL2c.4039A>C (p.Ser1347Arg)
c.4042A>C (p.Ser1348Arg)
c.3958A>C (p.Ser1320Arg)
c.2491A>C (p.Ser831Arg)
c.3676A>C (p.Ser1226Arg)
c.3262A>C (p.Ser1088Arg)
c.3868A>C (p.Ser1290Arg)
c.4222A>C (p.Ser1408Arg)
2g.25742295T=CA1239490396ASXL2c.4039A= (p.Ser1347=)
c.4042A= (p.Ser1348=)
c.3958A= (p.Ser1320=)
c.2491A= (p.Ser831=)
c.3676A= (p.Ser1226=)
c.3262A= (p.Ser1088=)
c.3868A= (p.Ser1290=)
c.4222A= (p.Ser1408=)
2g.25742296A>CCA425354477ASXL2c.4038T>G (p.Gly1346=)
c.4041T>G (p.Gly1347=)
c.3957T>G (p.Gly1319=)
c.2490T>G (p.Gly830=)
c.3675T>G (p.Gly1225=)
c.3261T>G (p.Gly1087=)
c.3867T>G (p.Gly1289=)
c.4221T>G (p.Gly1407=)
2g.25742296A>GCA425354478ASXL2c.4038T>C (p.Gly1346=)
c.4041T>C (p.Gly1347=)
c.3957T>C (p.Gly1319=)
c.2490T>C (p.Gly830=)
c.3675T>C (p.Gly1225=)
c.3261T>C (p.Gly1087=)
c.3867T>C (p.Gly1289=)
c.4221T>C (p.Gly1407=)
2g.25742296A>TCA425354479ASXL2c.4038T>A (p.Gly1346=)
c.4041T>A (p.Gly1347=)
c.3957T>A (p.Gly1319=)
c.2490T>A (p.Gly830=)
c.3675T>A (p.Gly1225=)
c.3261T>A (p.Gly1087=)
c.3867T>A (p.Gly1289=)
c.4221T>A (p.Gly1407=)
2g.25742297C>ACA346074412ASXL2c.4037G>T (p.Gly1346Val)
c.4040G>T (p.Gly1347Val)
c.3956G>T (p.Gly1319Val)
c.2489G>T (p.Gly830Val)
c.3674G>T (p.Gly1225Val)
c.3260G>T (p.Gly1087Val)
c.3866G>T (p.Gly1289Val)
c.4220G>T (p.Gly1407Val)
2g.25742297C>GCA346074416ASXL2c.4037G>C (p.Gly1346Ala)
c.4040G>C (p.Gly1347Ala)
c.3956G>C (p.Gly1319Ala)
c.2489G>C (p.Gly830Ala)
c.3674G>C (p.Gly1225Ala)
c.3260G>C (p.Gly1087Ala)
c.3866G>C (p.Gly1289Ala)
c.4220G>C (p.Gly1407Ala)
2g.25742297C>TCA346074414ASXL2c.4037G>A (p.Gly1346Asp)
c.4040G>A (p.Gly1347Asp)
c.3956G>A (p.Gly1319Asp)
c.2489G>A (p.Gly830Asp)
c.3674G>A (p.Gly1225Asp)
c.3260G>A (p.Gly1087Asp)
c.3866G>A (p.Gly1289Asp)
c.4220G>A (p.Gly1407Asp)
 gnomAD v4
2g.25742297_25742298insAGTCAGGCATCCCA2550423779ASXL2c.4037_4038insGATGCCTGACTG (p.Gly1346_Ser1347insMetProAspCys)
c.4040_4041insGATGCCTGACTG (p.Gly1347_Ser1348insMetProAspCys)
c.3956_3957insGATGCCTGACTG (p.Gly1319_Ser1320insMetProAspCys)
c.2489_2490insGATGCCTGACTG (p.Gly830_Ser831insMetProAspCys)
c.3674_3675insGATGCCTGACTG (p.Gly1225_Ser1226insMetProAspCys)
c.3260_3261insGATGCCTGACTG (p.Gly1087_Ser1088insMetProAspCys)
c.3866_3867insGATGCCTGACTG (p.Gly1289_Ser1290insMetProAspCys)
c.4220_4221insGATGCCTGACTG (p.Gly1407_Ser1408insMetProAspCys)
2g.25742298C>ACA346074418ASXL2c.4036G>T (p.Gly1346Cys)
c.4039G>T (p.Gly1347Cys)
c.3955G>T (p.Gly1319Cys)
c.2488G>T (p.Gly830Cys)
c.3673G>T (p.Gly1225Cys)
c.3259G>T (p.Gly1087Cys)
c.3865G>T (p.Gly1289Cys)
c.4219G>T (p.Gly1407Cys)
2g.25742298C=CA1239490397ASXL2c.4036G= (p.Gly1346=)
c.4039G= (p.Gly1347=)
c.3955G= (p.Gly1319=)
c.2488G= (p.Gly830=)
c.3673G= (p.Gly1225=)
c.3259G= (p.Gly1087=)
c.3865G= (p.Gly1289=)
c.4219G= (p.Gly1407=)
2g.25742298C>GCA346074422ASXL2c.4036G>C (p.Gly1346Arg)
c.4039G>C (p.Gly1347Arg)
c.3955G>C (p.Gly1319Arg)
c.2488G>C (p.Gly830Arg)
c.3673G>C (p.Gly1225Arg)
c.3259G>C (p.Gly1087Arg)
c.3865G>C (p.Gly1289Arg)
c.4219G>C (p.Gly1407Arg)
2g.25742298C>TCA346074420ASXL2c.4036G>A (p.Gly1346Ser)
c.4039G>A (p.Gly1347Ser)
c.3955G>A (p.Gly1319Ser)
c.2488G>A (p.Gly830Ser)
c.3673G>A (p.Gly1225Ser)
c.3259G>A (p.Gly1087Ser)
c.3865G>A (p.Gly1289Ser)
c.4219G>A (p.Gly1407Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.25742299T>ACA425354488ASXL2c.4035A>T (p.Pro1345=)
c.4038A>T (p.Pro1346=)
c.3954A>T (p.Pro1318=)
c.2487A>T (p.Pro829=)
c.3672A>T (p.Pro1224=)
c.3258A>T (p.Pro1086=)
c.3864A>T (p.Pro1288=)
c.4218A>T (p.Pro1406=)
2g.25742299T>CCA425354491ASXL2c.4035A>G (p.Pro1345=)
c.4038A>G (p.Pro1346=)
c.3954A>G (p.Pro1318=)
c.2487A>G (p.Pro829=)
c.3672A>G (p.Pro1224=)
c.3258A>G (p.Pro1086=)
c.3864A>G (p.Pro1288=)
c.4218A>G (p.Pro1406=)
 gnomAD v4
2g.25742299T>GCA425354489ASXL2c.4035A>C (p.Pro1345=)
c.4038A>C (p.Pro1346=)
c.3954A>C (p.Pro1318=)
c.2487A>C (p.Pro829=)
c.3672A>C (p.Pro1224=)
c.3258A>C (p.Pro1086=)
c.3864A>C (p.Pro1288=)
c.4218A>C (p.Pro1406=)
2g.25742300G>ACA346074426ASXL2c.4034C>T (p.Pro1345Leu)
c.4037C>T (p.Pro1346Leu)
c.3953C>T (p.Pro1318Leu)
c.2486C>T (p.Pro829Leu)
c.3671C>T (p.Pro1224Leu)
c.3257C>T (p.Pro1086Leu)
c.3863C>T (p.Pro1288Leu)
c.4217C>T (p.Pro1406Leu)
 dbSNP
2g.25742300G>CCA346074432ASXL2c.4034C>G (p.Pro1345Arg)
c.4037C>G (p.Pro1346Arg)
c.3953C>G (p.Pro1318Arg)
c.2486C>G (p.Pro829Arg)
c.3671C>G (p.Pro1224Arg)
c.3257C>G (p.Pro1086Arg)
c.3863C>G (p.Pro1288Arg)
c.4217C>G (p.Pro1406Arg)
2g.25742300G=CA1239490398ASXL2c.4034C= (p.Pro1345=)
c.4037C= (p.Pro1346=)
c.3953C= (p.Pro1318=)
c.2486C= (p.Pro829=)
c.3671C= (p.Pro1224=)
c.3257C= (p.Pro1086=)
c.3863C= (p.Pro1288=)
c.4217C= (p.Pro1406=)
2g.25742300G>TCA346074429ASXL2c.4034C>A (p.Pro1345Gln)
c.4037C>A (p.Pro1346Gln)
c.3953C>A (p.Pro1318Gln)
c.2486C>A (p.Pro829Gln)
c.3671C>A (p.Pro1224Gln)
c.3257C>A (p.Pro1086Gln)
c.3863C>A (p.Pro1288Gln)
c.4217C>A (p.Pro1406Gln)
2g.25742301G>ACA346074436ASXL2c.4033C>T (p.Pro1345Ser)
c.4036C>T (p.Pro1346Ser)
c.3952C>T (p.Pro1318Ser)
c.2485C>T (p.Pro829Ser)
c.3670C>T (p.Pro1224Ser)
c.3256C>T (p.Pro1086Ser)
c.3862C>T (p.Pro1288Ser)
c.4216C>T (p.Pro1406Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742301G>CCA346074442ASXL2c.4033C>G (p.Pro1345Ala)
c.4036C>G (p.Pro1346Ala)
c.3952C>G (p.Pro1318Ala)
c.2485C>G (p.Pro829Ala)
c.3670C>G (p.Pro1224Ala)
c.3256C>G (p.Pro1086Ala)
c.3862C>G (p.Pro1288Ala)
c.4216C>G (p.Pro1406Ala)
2g.25742301G=CA1239490399ASXL2c.4033C= (p.Pro1345=)
c.4036C= (p.Pro1346=)
c.3952C= (p.Pro1318=)
c.2485C= (p.Pro829=)
c.3670C= (p.Pro1224=)
c.3256C= (p.Pro1086=)
c.3862C= (p.Pro1288=)
c.4216C= (p.Pro1406=)
2g.25742301G>TCA346074439ASXL2c.4033C>A (p.Pro1345Thr)
c.4036C>A (p.Pro1346Thr)
c.3952C>A (p.Pro1318Thr)
c.2485C>A (p.Pro829Thr)
c.3670C>A (p.Pro1224Thr)
c.3256C>A (p.Pro1086Thr)
c.3862C>A (p.Pro1288Thr)
c.4216C>A (p.Pro1406Thr)
2g.25742302T>ACA425354502ASXL2c.4032A>T (p.Val1344=)
c.4035A>T (p.Val1345=)
c.3951A>T (p.Val1317=)
c.2484A>T (p.Val828=)
c.3669A>T (p.Val1223=)
c.3255A>T (p.Val1085=)
c.3861A>T (p.Val1287=)
c.4215A>T (p.Val1405=)
2g.25742302T>CCA425354504ASXL2c.4032A>G (p.Val1344=)
c.4035A>G (p.Val1345=)
c.3951A>G (p.Val1317=)
c.2484A>G (p.Val828=)
c.3669A>G (p.Val1223=)
c.3255A>G (p.Val1085=)
c.3861A>G (p.Val1287=)
c.4215A>G (p.Val1405=)
2g.25742302T>GCA425354506ASXL2c.4032A>C (p.Val1344=)
c.4035A>C (p.Val1345=)
c.3951A>C (p.Val1317=)
c.2484A>C (p.Val828=)
c.3669A>C (p.Val1223=)
c.3255A>C (p.Val1085=)
c.3861A>C (p.Val1287=)
c.4215A>C (p.Val1405=)
2g.25742303A>CCA346074446ASXL2c.4031T>G (p.Val1344Gly)
c.4034T>G (p.Val1345Gly)
c.3950T>G (p.Val1317Gly)
c.2483T>G (p.Val828Gly)
c.3668T>G (p.Val1223Gly)
c.3254T>G (p.Val1085Gly)
c.3860T>G (p.Val1287Gly)
c.4214T>G (p.Val1405Gly)
2g.25742303A>GCA346074449ASXL2c.4031T>C (p.Val1344Ala)
c.4034T>C (p.Val1345Ala)
c.3950T>C (p.Val1317Ala)
c.2483T>C (p.Val828Ala)
c.3668T>C (p.Val1223Ala)
c.3254T>C (p.Val1085Ala)
c.3860T>C (p.Val1287Ala)
c.4214T>C (p.Val1405Ala)
2g.25742303A>TCA346074452ASXL2c.4031T>A (p.Val1344Glu)
c.4034T>A (p.Val1345Glu)
c.3950T>A (p.Val1317Glu)
c.2483T>A (p.Val828Glu)
c.3668T>A (p.Val1223Glu)
c.3254T>A (p.Val1085Glu)
c.3860T>A (p.Val1287Glu)
c.4214T>A (p.Val1405Glu)
2g.25742304C>ACA346074457ASXL2c.4030G>T (p.Val1344Leu)
c.4033G>T (p.Val1345Leu)
c.3949G>T (p.Val1317Leu)
c.2482G>T (p.Val828Leu)
c.3667G>T (p.Val1223Leu)
c.3253G>T (p.Val1085Leu)
c.3859G>T (p.Val1287Leu)
c.4213G>T (p.Val1405Leu)
2g.25742304C>GCA346074459ASXL2c.4030G>C (p.Val1344Leu)
c.4033G>C (p.Val1345Leu)
c.3949G>C (p.Val1317Leu)
c.2482G>C (p.Val828Leu)
c.3667G>C (p.Val1223Leu)
c.3253G>C (p.Val1085Leu)
c.3859G>C (p.Val1287Leu)
c.4213G>C (p.Val1405Leu)
 gnomAD v4
2g.25742304C>TCA346074461ASXL2c.4030G>A (p.Val1344Ile)
c.4033G>A (p.Val1345Ile)
c.3949G>A (p.Val1317Ile)
c.2482G>A (p.Val828Ile)
c.3667G>A (p.Val1223Ile)
c.3253G>A (p.Val1085Ile)
c.3859G>A (p.Val1287Ile)
c.4213G>A (p.Val1405Ile)
 COSMIC COSMIC
2g.25742305A>CCA425354510ASXL2c.4029T>G (p.Ala1343=)
c.4032T>G (p.Ala1344=)
c.3948T>G (p.Ala1316=)
c.2481T>G (p.Ala827=)
c.3666T>G (p.Ala1222=)
c.3252T>G (p.Ala1084=)
c.3858T>G (p.Ala1286=)
c.4212T>G (p.Ala1404=)
2g.25742305A>GCA425354513ASXL2c.4029T>C (p.Ala1343=)
c.4032T>C (p.Ala1344=)
c.3948T>C (p.Ala1316=)
c.2481T>C (p.Ala827=)
c.3666T>C (p.Ala1222=)
c.3252T>C (p.Ala1084=)
c.3858T>C (p.Ala1286=)
c.4212T>C (p.Ala1404=)
 gnomAD v4
2g.25742305A>TCA425354515ASXL2c.4029T>A (p.Ala1343=)
c.4032T>A (p.Ala1344=)
c.3948T>A (p.Ala1316=)
c.2481T>A (p.Ala827=)
c.3666T>A (p.Ala1222=)
c.3252T>A (p.Ala1084=)
c.3858T>A (p.Ala1286=)
c.4212T>A (p.Ala1404=)
2g.25742306G>ACA346074467ASXL2c.4028C>T (p.Ala1343Val)
c.4031C>T (p.Ala1344Val)
c.3947C>T (p.Ala1316Val)
c.2480C>T (p.Ala827Val)
c.3665C>T (p.Ala1222Val)
c.3251C>T (p.Ala1084Val)
c.3857C>T (p.Ala1286Val)
c.4211C>T (p.Ala1404Val)
 gnomAD v4
2g.25742306G>CCA346074469ASXL2c.4028C>G (p.Ala1343Gly)
c.4031C>G (p.Ala1344Gly)
c.3947C>G (p.Ala1316Gly)
c.2480C>G (p.Ala827Gly)
c.3665C>G (p.Ala1222Gly)
c.3251C>G (p.Ala1084Gly)
c.3857C>G (p.Ala1286Gly)
c.4211C>G (p.Ala1404Gly)
 gnomAD v4
2g.25742306G>TCA346074472ASXL2c.4028C>A (p.Ala1343Asp)
c.4031C>A (p.Ala1344Asp)
c.3947C>A (p.Ala1316Asp)
c.2480C>A (p.Ala827Asp)
c.3665C>A (p.Ala1222Asp)
c.3251C>A (p.Ala1084Asp)
c.3857C>A (p.Ala1286Asp)
c.4211C>A (p.Ala1404Asp)
2g.25742307C>ACA346074481ASXL2c.4027G>T (p.Ala1343Ser)
c.4030G>T (p.Ala1344Ser)
c.3946G>T (p.Ala1316Ser)
c.2479G>T (p.Ala827Ser)
c.3664G>T (p.Ala1222Ser)
c.3250G>T (p.Ala1084Ser)
c.3856G>T (p.Ala1286Ser)
c.4210G>T (p.Ala1404Ser)
2g.25742307C>GCA346074478ASXL2c.4027G>C (p.Ala1343Pro)
c.4030G>C (p.Ala1344Pro)
c.3946G>C (p.Ala1316Pro)
c.2479G>C (p.Ala827Pro)
c.3664G>C (p.Ala1222Pro)
c.3250G>C (p.Ala1084Pro)
c.3856G>C (p.Ala1286Pro)
c.4210G>C (p.Ala1404Pro)
2g.25742307C>TCA346074475ASXL2c.4027G>A (p.Ala1343Thr)
c.4030G>A (p.Ala1344Thr)
c.3946G>A (p.Ala1316Thr)
c.2479G>A (p.Ala827Thr)
c.3664G>A (p.Ala1222Thr)
c.3250G>A (p.Ala1084Thr)
c.3856G>A (p.Ala1286Thr)
c.4210G>A (p.Ala1404Thr)
 ClinVar COSMIC COSMIC
2g.25742307_25742309delinsCAGCA1239490400ASXL2c.4025_4027delinsCTG (p.Ser1342=)
c.4028_4030delinsCTG (p.Ser1343=)
c.3944_3946delinsCTG (p.Ser1315=)
c.2477_2479delinsCTG (p.Ser826=)
c.3662_3664delinsCTG (p.Ser1221=)
c.3248_3250delinsCTG (p.Ser1083=)
c.3854_3856delinsCTG (p.Ser1285=)
c.4208_4210delinsCTG (p.Ser1403=)
2g.25742308A>CCA425354523ASXL2c.4026T>G (p.Ser1342=)
c.4029T>G (p.Ser1343=)
c.3945T>G (p.Ser1315=)
c.2478T>G (p.Ser826=)
c.3663T>G (p.Ser1221=)
c.3249T>G (p.Ser1083=)
c.3855T>G (p.Ser1285=)
c.4209T>G (p.Ser1403=)
2g.25742308A>GCA425354524ASXL2c.4026T>C (p.Ser1342=)
c.4029T>C (p.Ser1343=)
c.3945T>C (p.Ser1315=)
c.2478T>C (p.Ser826=)
c.3663T>C (p.Ser1221=)
c.3249T>C (p.Ser1083=)
c.3855T>C (p.Ser1285=)
c.4209T>C (p.Ser1403=)
 gnomAD v4
2g.25742308A>TCA425354526ASXL2c.4026T>A (p.Ser1342=)
c.4029T>A (p.Ser1343=)
c.3945T>A (p.Ser1315=)
c.2478T>A (p.Ser826=)
c.3663T>A (p.Ser1221=)
c.3249T>A (p.Ser1083=)
c.3855T>A (p.Ser1285=)
c.4209T>A (p.Ser1403=)
2g.25742310_25742311delCA1239490401ASXL2c.4025_4026del (p.Ser1342CysfsTer5)
c.4028_4029del (p.Ser1343CysfsTer5)
c.3944_3945del (p.Ser1315CysfsTer5)
c.2477_2478del (p.Ser826CysfsTer5)
c.3662_3663del (p.Ser1221CysfsTer5)
c.3248_3249del (p.Ser1083CysfsTer5)
c.3854_3855del (p.Ser1285CysfsTer5)
c.4208_4209del (p.Ser1403CysfsTer5)
 dbSNP
2g.25742309G>ACA346074483ASXL2c.4025C>T (p.Ser1342Phe)
c.4028C>T (p.Ser1343Phe)
c.3944C>T (p.Ser1315Phe)
c.2477C>T (p.Ser826Phe)
c.3662C>T (p.Ser1221Phe)
c.3248C>T (p.Ser1083Phe)
c.3854C>T (p.Ser1285Phe)
c.4208C>T (p.Ser1403Phe)
2g.25742309G>CCA346074488ASXL2c.4025C>G (p.Ser1342Cys)
c.4028C>G (p.Ser1343Cys)
c.3944C>G (p.Ser1315Cys)
c.2477C>G (p.Ser826Cys)
c.3662C>G (p.Ser1221Cys)
c.3248C>G (p.Ser1083Cys)
c.3854C>G (p.Ser1285Cys)
c.4208C>G (p.Ser1403Cys)
2g.25742309G>TCA346074491ASXL2c.4025C>A (p.Ser1342Tyr)
c.4028C>A (p.Ser1343Tyr)
c.3944C>A (p.Ser1315Tyr)
c.2477C>A (p.Ser826Tyr)
c.3662C>A (p.Ser1221Tyr)
c.3248C>A (p.Ser1083Tyr)
c.3854C>A (p.Ser1285Tyr)
c.4208C>A (p.Ser1403Tyr)
2g.25742310A=CA1239490402ASXL2c.4024T= (p.Ser1342=)
c.4027T= (p.Ser1343=)
c.3943T= (p.Ser1315=)
c.2476T= (p.Ser826=)
c.3661T= (p.Ser1221=)
c.3247T= (p.Ser1083=)
c.3853T= (p.Ser1285=)
c.4207T= (p.Ser1403=)
2g.25742310A>CCA346074497ASXL2c.4024T>G (p.Ser1342Ala)
c.4027T>G (p.Ser1343Ala)
c.3943T>G (p.Ser1315Ala)
c.2476T>G (p.Ser826Ala)
c.3661T>G (p.Ser1221Ala)
c.3247T>G (p.Ser1083Ala)
c.3853T>G (p.Ser1285Ala)
c.4207T>G (p.Ser1403Ala)
2g.25742310A>GCA346074499ASXL2c.4024T>C (p.Ser1342Pro)
c.4027T>C (p.Ser1343Pro)
c.3943T>C (p.Ser1315Pro)
c.2476T>C (p.Ser826Pro)
c.3661T>C (p.Ser1221Pro)
c.3247T>C (p.Ser1083Pro)
c.3853T>C (p.Ser1285Pro)
c.4207T>C (p.Ser1403Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.25742310A>TCA346074502ASXL2c.4024T>A (p.Ser1342Thr)
c.4027T>A (p.Ser1343Thr)
c.3943T>A (p.Ser1315Thr)
c.2476T>A (p.Ser826Thr)
c.3661T>A (p.Ser1221Thr)
c.3247T>A (p.Ser1083Thr)
c.3853T>A (p.Ser1285Thr)
c.4207T>A (p.Ser1403Thr)
2g.25742311G>ACA425354536ASXL2c.4023C>T (p.Asn1341=)
c.4026C>T (p.Asn1342=)
c.3942C>T (p.Asn1314=)
c.2475C>T (p.Asn825=)
c.3660C>T (p.Asn1220=)
c.3246C>T (p.Asn1082=)
c.3852C>T (p.Asn1284=)
c.4206C>T (p.Asn1402=)
 dbSNP gnomAD v2 gnomAD v4
2g.25742311G>CCA346074505ASXL2c.4023C>G (p.Asn1341Lys)
c.4026C>G (p.Asn1342Lys)
c.3942C>G (p.Asn1314Lys)
c.2475C>G (p.Asn825Lys)
c.3660C>G (p.Asn1220Lys)
c.3246C>G (p.Asn1082Lys)
c.3852C>G (p.Asn1284Lys)
c.4206C>G (p.Asn1402Lys)
 ClinVar dbSNP gnomAD v4
2g.25742311G=CA1239490403ASXL2c.4023C= (p.Asn1341=)
c.4026C= (p.Asn1342=)
c.3942C= (p.Asn1314=)
c.2475C= (p.Asn825=)
c.3660C= (p.Asn1220=)
c.3246C= (p.Asn1082=)
c.3852C= (p.Asn1284=)
c.4206C= (p.Asn1402=)
2g.25742311G>TCA346074509ASXL2c.4023C>A (p.Asn1341Lys)
c.4026C>A (p.Asn1342Lys)
c.3942C>A (p.Asn1314Lys)
c.2475C>A (p.Asn825Lys)
c.3660C>A (p.Asn1220Lys)
c.3246C>A (p.Asn1082Lys)
c.3852C>A (p.Asn1284Lys)
c.4206C>A (p.Asn1402Lys)
2g.25742313_25742318delCA425354537ASXL2c.4018_4023del (p.His1340_Asn1341del)
c.4021_4026del (p.His1341_Asn1342del)
c.3937_3942del (p.His1313_Asn1314del)
c.2470_2475del (p.His824_Asn825del)
c.3655_3660del (p.His1219_Asn1220del)
c.3241_3246del (p.His1081_Asn1082del)
c.3847_3852del (p.His1283_Asn1284del)
c.4201_4206del (p.His1401_Asn1402del)
2g.25742312T>ACA346074512ASXL2c.4022A>T (p.Asn1341Ile)
c.4025A>T (p.Asn1342Ile)
c.3941A>T (p.Asn1314Ile)
c.2474A>T (p.Asn825Ile)
c.3659A>T (p.Asn1220Ile)
c.3245A>T (p.Asn1082Ile)
c.3851A>T (p.Asn1284Ile)
c.4205A>T (p.Asn1402Ile)
2g.25742312T>CCA1557376ASXL2c.4022A>G (p.Asn1341Ser)
c.4025A>G (p.Asn1342Ser)
c.3941A>G (p.Asn1314Ser)
c.2474A>G (p.Asn825Ser)
c.3659A>G (p.Asn1220Ser)
c.3245A>G (p.Asn1082Ser)
c.3851A>G (p.Asn1284Ser)
c.4205A>G (p.Asn1402Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742312T>GCA346074517ASXL2c.4022A>C (p.Asn1341Thr)
c.4025A>C (p.Asn1342Thr)
c.3941A>C (p.Asn1314Thr)
c.2474A>C (p.Asn825Thr)
c.3659A>C (p.Asn1220Thr)
c.3245A>C (p.Asn1082Thr)
c.3851A>C (p.Asn1284Thr)
c.4205A>C (p.Asn1402Thr)
2g.25742312T=CA1239490404ASXL2c.4022A= (p.Asn1341=)
c.4025A= (p.Asn1342=)
c.3941A= (p.Asn1314=)
c.2474A= (p.Asn825=)
c.3659A= (p.Asn1220=)
c.3245A= (p.Asn1082=)
c.3851A= (p.Asn1284=)
c.4205A= (p.Asn1402=)
2g.25742313T>ACA346074523ASXL2c.4021A>T (p.Asn1341Tyr)
c.4024A>T (p.Asn1342Tyr)
c.3940A>T (p.Asn1314Tyr)
c.2473A>T (p.Asn825Tyr)
c.3658A>T (p.Asn1220Tyr)
c.3244A>T (p.Asn1082Tyr)
c.3850A>T (p.Asn1284Tyr)
c.4204A>T (p.Asn1402Tyr)
2g.25742313T>CCA346074526ASXL2c.4021A>G (p.Asn1341Asp)
c.4024A>G (p.Asn1342Asp)
c.3940A>G (p.Asn1314Asp)
c.2473A>G (p.Asn825Asp)
c.3658A>G (p.Asn1220Asp)
c.3244A>G (p.Asn1082Asp)
c.3850A>G (p.Asn1284Asp)
c.4204A>G (p.Asn1402Asp)
2g.25742313T>GCA346074521ASXL2c.4021A>C (p.Asn1341His)
c.4024A>C (p.Asn1342His)
c.3940A>C (p.Asn1314His)
c.2473A>C (p.Asn825His)
c.3658A>C (p.Asn1220His)
c.3244A>C (p.Asn1082His)
c.3850A>C (p.Asn1284His)
c.4204A>C (p.Asn1402His)
2g.25742314A=CA1239490405ASXL2c.4020T= (p.His1340=)
c.4023T= (p.His1341=)
c.3939T= (p.His1313=)
c.2472T= (p.His824=)
c.3657T= (p.His1219=)
c.3243T= (p.His1081=)
c.3849T= (p.His1283=)
c.4203T= (p.His1401=)
2g.25742314A>CCA346074530ASXL2c.4020T>G (p.His1340Gln)
c.4023T>G (p.His1341Gln)
c.3939T>G (p.His1313Gln)
c.2472T>G (p.His824Gln)
c.3657T>G (p.His1219Gln)
c.3243T>G (p.His1081Gln)
c.3849T>G (p.His1283Gln)
c.4203T>G (p.His1401Gln)
2g.25742314A>GCA1557377ASXL2c.4020T>C (p.His1340=)
c.4023T>C (p.His1341=)
c.3939T>C (p.His1313=)
c.2472T>C (p.His824=)
c.3657T>C (p.His1219=)
c.3243T>C (p.His1081=)
c.3849T>C (p.His1283=)
c.4203T>C (p.His1401=)
 dbSNP ExAC gnomAD v2
2g.25742314A>TCA346074535ASXL2c.4020T>A (p.His1340Gln)
c.4023T>A (p.His1341Gln)
c.3939T>A (p.His1313Gln)
c.2472T>A (p.His824Gln)
c.3657T>A (p.His1219Gln)
c.3243T>A (p.His1081Gln)
c.3849T>A (p.His1283Gln)
c.4203T>A (p.His1401Gln)
2g.25742315T>ACA346074539ASXL2c.4019A>T (p.His1340Leu)
c.4022A>T (p.His1341Leu)
c.3938A>T (p.His1313Leu)
c.2471A>T (p.His824Leu)
c.3656A>T (p.His1219Leu)
c.3242A>T (p.His1081Leu)
c.3848A>T (p.His1283Leu)
c.4202A>T (p.His1401Leu)
2g.25742315T>CCA346074542ASXL2c.4019A>G (p.His1340Arg)
c.4022A>G (p.His1341Arg)
c.3938A>G (p.His1313Arg)
c.2471A>G (p.His824Arg)
c.3656A>G (p.His1219Arg)
c.3242A>G (p.His1081Arg)
c.3848A>G (p.His1283Arg)
c.4202A>G (p.His1401Arg)
2g.25742315T>GCA346074543ASXL2c.4019A>C (p.His1340Pro)
c.4022A>C (p.His1341Pro)
c.3938A>C (p.His1313Pro)
c.2471A>C (p.His824Pro)
c.3656A>C (p.His1219Pro)
c.3242A>C (p.His1081Pro)
c.3848A>C (p.His1283Pro)
c.4202A>C (p.His1401Pro)
2g.25742316G>ACA346074544ASXL2c.4018C>T (p.His1340Tyr)
c.4021C>T (p.His1341Tyr)
c.3937C>T (p.His1313Tyr)
c.2470C>T (p.His824Tyr)
c.3655C>T (p.His1219Tyr)
c.3241C>T (p.His1081Tyr)
c.3847C>T (p.His1283Tyr)
c.4201C>T (p.His1401Tyr)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.25742316G>CCA346074545ASXL2c.4018C>G (p.His1340Asp)
c.4021C>G (p.His1341Asp)
c.3937C>G (p.His1313Asp)
c.2470C>G (p.His824Asp)
c.3655C>G (p.His1219Asp)
c.3241C>G (p.His1081Asp)
c.3847C>G (p.His1283Asp)
c.4201C>G (p.His1401Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.25742316G=CA1239490406ASXL2c.4018C= (p.His1340=)
c.4021C= (p.His1341=)
c.3937C= (p.His1313=)
c.2470C= (p.His824=)
c.3655C= (p.His1219=)
c.3241C= (p.His1081=)
c.3847C= (p.His1283=)
c.4201C= (p.His1401=)
2g.25742316G>TCA346074546ASXL2c.4018C>A (p.His1340Asn)
c.4021C>A (p.His1341Asn)
c.3937C>A (p.His1313Asn)
c.2470C>A (p.His824Asn)
c.3655C>A (p.His1219Asn)
c.3241C>A (p.His1081Asn)
c.3847C>A (p.His1283Asn)
c.4201C>A (p.His1401Asn)
 gnomAD v4
2g.25742317G>ACA425354558ASXL2c.4017C>T (p.Asp1339=)
c.4020C>T (p.Asp1340=)
c.3936C>T (p.Asp1312=)
c.2469C>T (p.Asp823=)
c.3654C>T (p.Asp1218=)
c.3240C>T (p.Asp1080=)
c.3846C>T (p.Asp1282=)
c.4200C>T (p.Asp1400=)
 dbSNP
2g.25742317G>CCA346074548ASXL2c.4017C>G (p.Asp1339Glu)
c.4020C>G (p.Asp1340Glu)
c.3936C>G (p.Asp1312Glu)
c.2469C>G (p.Asp823Glu)
c.3654C>G (p.Asp1218Glu)
c.3240C>G (p.Asp1080Glu)
c.3846C>G (p.Asp1282Glu)
c.4200C>G (p.Asp1400Glu)
2g.25742317G=CA1239490407ASXL2c.4017C= (p.Asp1339=)
c.4020C= (p.Asp1340=)
c.3936C= (p.Asp1312=)
c.2469C= (p.Asp823=)
c.3654C= (p.Asp1218=)
c.3240C= (p.Asp1080=)
c.3846C= (p.Asp1282=)
c.4200C= (p.Asp1400=)
2g.25742317G>TCA346074549ASXL2c.4017C>A (p.Asp1339Glu)
c.4020C>A (p.Asp1340Glu)
c.3936C>A (p.Asp1312Glu)
c.2469C>A (p.Asp823Glu)
c.3654C>A (p.Asp1218Glu)
c.3240C>A (p.Asp1080Glu)
c.3846C>A (p.Asp1282Glu)
c.4200C>A (p.Asp1400Glu)
 gnomAD v4
2g.25742318T>ACA346074554ASXL2c.4016A>T (p.Asp1339Val)
c.4019A>T (p.Asp1340Val)
c.3935A>T (p.Asp1312Val)
c.2468A>T (p.Asp823Val)
c.3653A>T (p.Asp1218Val)
c.3239A>T (p.Asp1080Val)
c.3845A>T (p.Asp1282Val)
c.4199A>T (p.Asp1400Val)
2g.25742318T>CCA346074556ASXL2c.4016A>G (p.Asp1339Gly)
c.4019A>G (p.Asp1340Gly)
c.3935A>G (p.Asp1312Gly)
c.2468A>G (p.Asp823Gly)
c.3653A>G (p.Asp1218Gly)
c.3239A>G (p.Asp1080Gly)
c.3845A>G (p.Asp1282Gly)
c.4199A>G (p.Asp1400Gly)
2g.25742318T>GCA346074551ASXL2c.4016A>C (p.Asp1339Ala)
c.4019A>C (p.Asp1340Ala)
c.3935A>C (p.Asp1312Ala)
c.2468A>C (p.Asp823Ala)
c.3653A>C (p.Asp1218Ala)
c.3239A>C (p.Asp1080Ala)
c.3845A>C (p.Asp1282Ala)
c.4199A>C (p.Asp1400Ala)
 gnomAD v4
2g.25742319C>ACA346074563ASXL2c.4015G>T (p.Asp1339Tyr)
c.4018G>T (p.Asp1340Tyr)
c.3934G>T (p.Asp1312Tyr)
c.2467G>T (p.Asp823Tyr)
c.3652G>T (p.Asp1218Tyr)
c.3238G>T (p.Asp1080Tyr)
c.3844G>T (p.Asp1282Tyr)
c.4198G>T (p.Asp1400Tyr)
 gnomAD v4
2g.25742319C>GCA346074565ASXL2c.4015G>C (p.Asp1339His)
c.4018G>C (p.Asp1340His)
c.3934G>C (p.Asp1312His)
c.2467G>C (p.Asp823His)
c.3652G>C (p.Asp1218His)
c.3238G>C (p.Asp1080His)
c.3844G>C (p.Asp1282His)
c.4198G>C (p.Asp1400His)
2g.25742319C>TCA346074567ASXL2c.4015G>A (p.Asp1339Asn)
c.4018G>A (p.Asp1340Asn)
c.3934G>A (p.Asp1312Asn)
c.2467G>A (p.Asp823Asn)
c.3652G>A (p.Asp1218Asn)
c.3238G>A (p.Asp1080Asn)
c.3844G>A (p.Asp1282Asn)
c.4198G>A (p.Asp1400Asn)
 gnomAD v4
2g.25742320C>ACA346074572ASXL2c.4014G>T (p.Met1338Ile)
c.4017G>T (p.Met1339Ile)
c.3933G>T (p.Met1311Ile)
c.2466G>T (p.Met822Ile)
c.3651G>T (p.Met1217Ile)
c.3237G>T (p.Met1079Ile)
c.3843G>T (p.Met1281Ile)
c.4197G>T (p.Met1399Ile)
2g.25742320C>GCA346074574ASXL2c.4014G>C (p.Met1338Ile)
c.4017G>C (p.Met1339Ile)
c.3933G>C (p.Met1311Ile)
c.2466G>C (p.Met822Ile)
c.3651G>C (p.Met1217Ile)
c.3237G>C (p.Met1079Ile)
c.3843G>C (p.Met1281Ile)
c.4197G>C (p.Met1399Ile)
2g.25742320C>TCA346074578ASXL2c.4014G>A (p.Met1338Ile)
c.4017G>A (p.Met1339Ile)
c.3933G>A (p.Met1311Ile)
c.2466G>A (p.Met822Ile)
c.3651G>A (p.Met1217Ile)
c.3237G>A (p.Met1079Ile)
c.3843G>A (p.Met1281Ile)
c.4197G>A (p.Met1399Ile)
 dbSNP gnomAD v4
2g.25742321A=CA1239490408ASXL2c.4013T= (p.Met1338=)
c.4016T= (p.Met1339=)
c.3932T= (p.Met1311=)
c.2465T= (p.Met822=)
c.3650T= (p.Met1217=)
c.3236T= (p.Met1079=)
c.3842T= (p.Met1281=)
c.4196T= (p.Met1399=)
2g.25742321A>CCA346074580ASXL2c.4013T>G (p.Met1338Arg)
c.4016T>G (p.Met1339Arg)
c.3932T>G (p.Met1311Arg)
c.2465T>G (p.Met822Arg)
c.3650T>G (p.Met1217Arg)
c.3236T>G (p.Met1079Arg)
c.3842T>G (p.Met1281Arg)
c.4196T>G (p.Met1399Arg)
 dbSNP
2g.25742321A>GCA43734223ASXL2c.4013T>C (p.Met1338Thr)
c.4016T>C (p.Met1339Thr)
c.3932T>C (p.Met1311Thr)
c.2465T>C (p.Met822Thr)
c.3650T>C (p.Met1217Thr)
c.3236T>C (p.Met1079Thr)
c.3842T>C (p.Met1281Thr)
c.4196T>C (p.Met1399Thr)
 dbSNP gnomAD v4
2g.25742321A>TCA346074582ASXL2c.4013T>A (p.Met1338Lys)
c.4016T>A (p.Met1339Lys)
c.3932T>A (p.Met1311Lys)
c.2465T>A (p.Met822Lys)
c.3650T>A (p.Met1217Lys)
c.3236T>A (p.Met1079Lys)
c.3842T>A (p.Met1281Lys)
c.4196T>A (p.Met1399Lys)
2g.25742322T>ACA346074588ASXL2c.4012A>T (p.Met1338Leu)
c.4015A>T (p.Met1339Leu)
c.3931A>T (p.Met1311Leu)
c.2464A>T (p.Met822Leu)
c.3649A>T (p.Met1217Leu)
c.3235A>T (p.Met1079Leu)
c.3841A>T (p.Met1281Leu)
c.4195A>T (p.Met1399Leu)
2g.25742322T>CCA1557378ASXL2c.4012A>G (p.Met1338Val)
c.4015A>G (p.Met1339Val)
c.3931A>G (p.Met1311Val)
c.2464A>G (p.Met822Val)
c.3649A>G (p.Met1217Val)
c.3235A>G (p.Met1079Val)
c.3841A>G (p.Met1281Val)
c.4195A>G (p.Met1399Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742322T>GCA346074591ASXL2c.4012A>C (p.Met1338Leu)
c.4015A>C (p.Met1339Leu)
c.3931A>C (p.Met1311Leu)
c.2464A>C (p.Met822Leu)
c.3649A>C (p.Met1217Leu)
c.3235A>C (p.Met1079Leu)
c.3841A>C (p.Met1281Leu)
c.4195A>C (p.Met1399Leu)
2g.25742322T=CA1239490409ASXL2c.4012A= (p.Met1338=)
c.4015A= (p.Met1339=)
c.3931A= (p.Met1311=)
c.2464A= (p.Met822=)
c.3649A= (p.Met1217=)
c.3235A= (p.Met1079=)
c.3841A= (p.Met1281=)
c.4195A= (p.Met1399=)
2g.25742323G>ACA425354573ASXL2c.4011C>T (p.Asp1337=)
c.4014C>T (p.Asp1338=)
c.3930C>T (p.Asp1310=)
c.2463C>T (p.Asp821=)
c.3648C>T (p.Asp1216=)
c.3234C>T (p.Asp1078=)
c.3840C>T (p.Asp1280=)
c.4194C>T (p.Asp1398=)
2g.25742323G>CCA346074594ASXL2c.4011C>G (p.Asp1337Glu)
c.4014C>G (p.Asp1338Glu)
c.3930C>G (p.Asp1310Glu)
c.2463C>G (p.Asp821Glu)
c.3648C>G (p.Asp1216Glu)
c.3234C>G (p.Asp1078Glu)
c.3840C>G (p.Asp1280Glu)
c.4194C>G (p.Asp1398Glu)
2g.25742323G>TCA346074596ASXL2c.4011C>A (p.Asp1337Glu)
c.4014C>A (p.Asp1338Glu)
c.3930C>A (p.Asp1310Glu)
c.2463C>A (p.Asp821Glu)
c.3648C>A (p.Asp1216Glu)
c.3234C>A (p.Asp1078Glu)
c.3840C>A (p.Asp1280Glu)
c.4194C>A (p.Asp1398Glu)
2g.25742324T>ACA346074603ASXL2c.4010A>T (p.Asp1337Val)
c.4013A>T (p.Asp1338Val)
c.3929A>T (p.Asp1310Val)
c.2462A>T (p.Asp821Val)
c.3647A>T (p.Asp1216Val)
c.3233A>T (p.Asp1078Val)
c.3839A>T (p.Asp1280Val)
c.4193A>T (p.Asp1398Val)
2g.25742324T>CCA346074601ASXL2c.4010A>G (p.Asp1337Gly)
c.4013A>G (p.Asp1338Gly)
c.3929A>G (p.Asp1310Gly)
c.2462A>G (p.Asp821Gly)
c.3647A>G (p.Asp1216Gly)
c.3233A>G (p.Asp1078Gly)
c.3839A>G (p.Asp1280Gly)
c.4193A>G (p.Asp1398Gly)
2g.25742324T>GCA346074598ASXL2c.4010A>C (p.Asp1337Ala)
c.4013A>C (p.Asp1338Ala)
c.3929A>C (p.Asp1310Ala)
c.2462A>C (p.Asp821Ala)
c.3647A>C (p.Asp1216Ala)
c.3233A>C (p.Asp1078Ala)
c.3839A>C (p.Asp1280Ala)
c.4193A>C (p.Asp1398Ala)
2g.25742325C>ACA346074610ASXL2c.4009G>T (p.Asp1337Tyr)
c.4012G>T (p.Asp1338Tyr)
c.3928G>T (p.Asp1310Tyr)
c.2461G>T (p.Asp821Tyr)
c.3646G>T (p.Asp1216Tyr)
c.3232G>T (p.Asp1078Tyr)
c.3838G>T (p.Asp1280Tyr)
c.4192G>T (p.Asp1398Tyr)
2g.25742325C=CA1239490410ASXL2c.4009G= (p.Asp1337=)
c.4012G= (p.Asp1338=)
c.3928G= (p.Asp1310=)
c.2461G= (p.Asp821=)
c.3646G= (p.Asp1216=)
c.3232G= (p.Asp1078=)
c.3838G= (p.Asp1280=)
c.4192G= (p.Asp1398=)
2g.25742325C>GCA346074608ASXL2c.4009G>C (p.Asp1337His)
c.4012G>C (p.Asp1338His)
c.3928G>C (p.Asp1310His)
c.2461G>C (p.Asp821His)
c.3646G>C (p.Asp1216His)
c.3232G>C (p.Asp1078His)
c.3838G>C (p.Asp1280His)
c.4192G>C (p.Asp1398His)
 dbSNP gnomAD v3 gnomAD v4
2g.25742325C>TCA346074613ASXL2c.4009G>A (p.Asp1337Asn)
c.4012G>A (p.Asp1338Asn)
c.3928G>A (p.Asp1310Asn)
c.2461G>A (p.Asp821Asn)
c.3646G>A (p.Asp1216Asn)
c.3232G>A (p.Asp1078Asn)
c.3838G>A (p.Asp1280Asn)
c.4192G>A (p.Asp1398Asn)
 ClinVar dbSNP
2g.25742326A>CCA425354579ASXL2c.4008T>G (p.Ser1336=)
c.4011T>G (p.Ser1337=)
c.3927T>G (p.Ser1309=)
c.2460T>G (p.Ser820=)
c.3645T>G (p.Ser1215=)
c.3231T>G (p.Ser1077=)
c.3837T>G (p.Ser1279=)
c.4191T>G (p.Ser1397=)
2g.25742326A>GCA425354580ASXL2c.4008T>C (p.Ser1336=)
c.4011T>C (p.Ser1337=)
c.3927T>C (p.Ser1309=)
c.2460T>C (p.Ser820=)
c.3645T>C (p.Ser1215=)
c.3231T>C (p.Ser1077=)
c.3837T>C (p.Ser1279=)
c.4191T>C (p.Ser1397=)
2g.25742326A>TCA425354581ASXL2c.4008T>A (p.Ser1336=)
c.4011T>A (p.Ser1337=)
c.3927T>A (p.Ser1309=)
c.2460T>A (p.Ser820=)
c.3645T>A (p.Ser1215=)
c.3231T>A (p.Ser1077=)
c.3837T>A (p.Ser1279=)
c.4191T>A (p.Ser1397=)

Number of alleles fetched