Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.25742356A>CCA346074838ASXL2c.3978T>G (p.Tyr1326Ter)
c.3981T>G (p.Tyr1327Ter)
c.3897T>G (p.Tyr1299Ter)
c.2430T>G (p.Tyr810Ter)
c.3615T>G (p.Tyr1205Ter)
c.3201T>G (p.Tyr1067Ter)
c.3807T>G (p.Tyr1269Ter)
c.4161T>G (p.Tyr1387Ter)
2g.25742356A>GCA425354670ASXL2c.3978T>C (p.Tyr1326=)
c.3981T>C (p.Tyr1327=)
c.3897T>C (p.Tyr1299=)
c.2430T>C (p.Tyr810=)
c.3615T>C (p.Tyr1205=)
c.3201T>C (p.Tyr1067=)
c.3807T>C (p.Tyr1269=)
c.4161T>C (p.Tyr1387=)
2g.25742356A>TCA346074840ASXL2c.3978T>A (p.Tyr1326Ter)
c.3981T>A (p.Tyr1327Ter)
c.3897T>A (p.Tyr1299Ter)
c.2430T>A (p.Tyr810Ter)
c.3615T>A (p.Tyr1205Ter)
c.3201T>A (p.Tyr1067Ter)
c.3807T>A (p.Tyr1269Ter)
c.4161T>A (p.Tyr1387Ter)
2g.25742357T>ACA346074844ASXL2c.3977A>T (p.Tyr1326Phe)
c.3980A>T (p.Tyr1327Phe)
c.3896A>T (p.Tyr1299Phe)
c.2429A>T (p.Tyr810Phe)
c.3614A>T (p.Tyr1205Phe)
c.3200A>T (p.Tyr1067Phe)
c.3806A>T (p.Tyr1269Phe)
c.4160A>T (p.Tyr1387Phe)
2g.25742357T>CCA346074846ASXL2c.3977A>G (p.Tyr1326Cys)
c.3980A>G (p.Tyr1327Cys)
c.3896A>G (p.Tyr1299Cys)
c.2429A>G (p.Tyr810Cys)
c.3614A>G (p.Tyr1205Cys)
c.3200A>G (p.Tyr1067Cys)
c.3806A>G (p.Tyr1269Cys)
c.4160A>G (p.Tyr1387Cys)
 dbSNP
2g.25742357T>GCA346074849ASXL2c.3977A>C (p.Tyr1326Ser)
c.3980A>C (p.Tyr1327Ser)
c.3896A>C (p.Tyr1299Ser)
c.2429A>C (p.Tyr810Ser)
c.3614A>C (p.Tyr1205Ser)
c.3200A>C (p.Tyr1067Ser)
c.3806A>C (p.Tyr1269Ser)
c.4160A>C (p.Tyr1387Ser)
2g.25742357T=CA1239490424ASXL2c.3977A= (p.Tyr1326=)
c.3980A= (p.Tyr1327=)
c.3896A= (p.Tyr1299=)
c.2429A= (p.Tyr810=)
c.3614A= (p.Tyr1205=)
c.3200A= (p.Tyr1067=)
c.3806A= (p.Tyr1269=)
c.4160A= (p.Tyr1387=)
2g.25742358A>CCA346074854ASXL2c.3976T>G (p.Tyr1326Asp)
c.3979T>G (p.Tyr1327Asp)
c.3895T>G (p.Tyr1299Asp)
c.2428T>G (p.Tyr810Asp)
c.3613T>G (p.Tyr1205Asp)
c.3199T>G (p.Tyr1067Asp)
c.3805T>G (p.Tyr1269Asp)
c.4159T>G (p.Tyr1387Asp)
2g.25742358A>GCA346074856ASXL2c.3976T>C (p.Tyr1326His)
c.3979T>C (p.Tyr1327His)
c.3895T>C (p.Tyr1299His)
c.2428T>C (p.Tyr810His)
c.3613T>C (p.Tyr1205His)
c.3199T>C (p.Tyr1067His)
c.3805T>C (p.Tyr1269His)
c.4159T>C (p.Tyr1387His)
 gnomAD v4
2g.25742358A>TCA346074855ASXL2c.3976T>A (p.Tyr1326Asn)
c.3979T>A (p.Tyr1327Asn)
c.3895T>A (p.Tyr1299Asn)
c.2428T>A (p.Tyr810Asn)
c.3613T>A (p.Tyr1205Asn)
c.3199T>A (p.Tyr1067Asn)
c.3805T>A (p.Tyr1269Asn)
c.4159T>A (p.Tyr1387Asn)
 gnomAD v4
2g.25742359G>ACA425354683ASXL2c.3975C>T (p.Ser1325=)
c.3978C>T (p.Ser1326=)
c.3894C>T (p.Ser1298=)
c.2427C>T (p.Ser809=)
c.3612C>T (p.Ser1204=)
c.3198C>T (p.Ser1066=)
c.3804C>T (p.Ser1268=)
c.4158C>T (p.Ser1386=)
2g.25742359G>CCA346074860ASXL2c.3975C>G (p.Ser1325Arg)
c.3978C>G (p.Ser1326Arg)
c.3894C>G (p.Ser1298Arg)
c.2427C>G (p.Ser809Arg)
c.3612C>G (p.Ser1204Arg)
c.3198C>G (p.Ser1066Arg)
c.3804C>G (p.Ser1268Arg)
c.4158C>G (p.Ser1386Arg)
2g.25742359G>TCA346074862ASXL2c.3975C>A (p.Ser1325Arg)
c.3978C>A (p.Ser1326Arg)
c.3894C>A (p.Ser1298Arg)
c.2427C>A (p.Ser809Arg)
c.3612C>A (p.Ser1204Arg)
c.3198C>A (p.Ser1066Arg)
c.3804C>A (p.Ser1268Arg)
c.4158C>A (p.Ser1386Arg)
2g.25742360C>ACA346074865ASXL2c.3974G>T (p.Ser1325Ile)
c.3977G>T (p.Ser1326Ile)
c.3893G>T (p.Ser1298Ile)
c.2426G>T (p.Ser809Ile)
c.3611G>T (p.Ser1204Ile)
c.3197G>T (p.Ser1066Ile)
c.3803G>T (p.Ser1268Ile)
c.4157G>T (p.Ser1386Ile)
2g.25742360C>GCA346074867ASXL2c.3974G>C (p.Ser1325Thr)
c.3977G>C (p.Ser1326Thr)
c.3893G>C (p.Ser1298Thr)
c.2426G>C (p.Ser809Thr)
c.3611G>C (p.Ser1204Thr)
c.3197G>C (p.Ser1066Thr)
c.3803G>C (p.Ser1268Thr)
c.4157G>C (p.Ser1386Thr)
 gnomAD v4
2g.25742360C>TCA346074869ASXL2c.3974G>A (p.Ser1325Asn)
c.3977G>A (p.Ser1326Asn)
c.3893G>A (p.Ser1298Asn)
c.2426G>A (p.Ser809Asn)
c.3611G>A (p.Ser1204Asn)
c.3197G>A (p.Ser1066Asn)
c.3803G>A (p.Ser1268Asn)
c.4157G>A (p.Ser1386Asn)
2g.25742361T>ACA346074873ASXL2c.3973A>T (p.Ser1325Cys)
c.3976A>T (p.Ser1326Cys)
c.3892A>T (p.Ser1298Cys)
c.2425A>T (p.Ser809Cys)
c.3610A>T (p.Ser1204Cys)
c.3196A>T (p.Ser1066Cys)
c.3802A>T (p.Ser1268Cys)
c.4156A>T (p.Ser1386Cys)
2g.25742361T>CCA346074875ASXL2c.3973A>G (p.Ser1325Gly)
c.3976A>G (p.Ser1326Gly)
c.3892A>G (p.Ser1298Gly)
c.2425A>G (p.Ser809Gly)
c.3610A>G (p.Ser1204Gly)
c.3196A>G (p.Ser1066Gly)
c.3802A>G (p.Ser1268Gly)
c.4156A>G (p.Ser1386Gly)
2g.25742361T>GCA346074877ASXL2c.3973A>C (p.Ser1325Arg)
c.3976A>C (p.Ser1326Arg)
c.3892A>C (p.Ser1298Arg)
c.2425A>C (p.Ser809Arg)
c.3610A>C (p.Ser1204Arg)
c.3196A>C (p.Ser1066Arg)
c.3802A>C (p.Ser1268Arg)
c.4156A>C (p.Ser1386Arg)
2g.25742362T>ACA425354685ASXL2c.3972A>T (p.Pro1324=)
c.3975A>T (p.Pro1325=)
c.3891A>T (p.Pro1297=)
c.2424A>T (p.Pro808=)
c.3609A>T (p.Pro1203=)
c.3195A>T (p.Pro1065=)
c.3801A>T (p.Pro1267=)
c.4155A>T (p.Pro1385=)
2g.25742362T>CCA1557384ASXL2c.3972A>G (p.Pro1324=)
c.3975A>G (p.Pro1325=)
c.3891A>G (p.Pro1297=)
c.2424A>G (p.Pro808=)
c.3609A>G (p.Pro1203=)
c.3195A>G (p.Pro1065=)
c.3801A>G (p.Pro1267=)
c.4155A>G (p.Pro1385=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742362T>GCA425354689ASXL2c.3972A>C (p.Pro1324=)
c.3975A>C (p.Pro1325=)
c.3891A>C (p.Pro1297=)
c.2424A>C (p.Pro808=)
c.3609A>C (p.Pro1203=)
c.3195A>C (p.Pro1065=)
c.3801A>C (p.Pro1267=)
c.4155A>C (p.Pro1385=)
2g.25742362T=CA1239490425ASXL2c.3972A= (p.Pro1324=)
c.3975A= (p.Pro1325=)
c.3891A= (p.Pro1297=)
c.2424A= (p.Pro808=)
c.3609A= (p.Pro1203=)
c.3195A= (p.Pro1065=)
c.3801A= (p.Pro1267=)
c.4155A= (p.Pro1385=)
2g.25742363G>ACA346074881ASXL2c.3971C>T (p.Pro1324Leu)
c.3974C>T (p.Pro1325Leu)
c.3890C>T (p.Pro1297Leu)
c.2423C>T (p.Pro808Leu)
c.3608C>T (p.Pro1203Leu)
c.3194C>T (p.Pro1065Leu)
c.3800C>T (p.Pro1267Leu)
c.4154C>T (p.Pro1385Leu)
 gnomAD v4
2g.25742363G>CCA1557385ASXL2c.3971C>G (p.Pro1324Arg)
c.3974C>G (p.Pro1325Arg)
c.3890C>G (p.Pro1297Arg)
c.2423C>G (p.Pro808Arg)
c.3608C>G (p.Pro1203Arg)
c.3194C>G (p.Pro1065Arg)
c.3800C>G (p.Pro1267Arg)
c.4154C>G (p.Pro1385Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742363G=CA1239490426ASXL2c.3971C= (p.Pro1324=)
c.3974C= (p.Pro1325=)
c.3890C= (p.Pro1297=)
c.2423C= (p.Pro808=)
c.3608C= (p.Pro1203=)
c.3194C= (p.Pro1065=)
c.3800C= (p.Pro1267=)
c.4154C= (p.Pro1385=)
2g.25742363G>TCA346074897ASXL2c.3971C>A (p.Pro1324Gln)
c.3974C>A (p.Pro1325Gln)
c.3890C>A (p.Pro1297Gln)
c.2423C>A (p.Pro808Gln)
c.3608C>A (p.Pro1203Gln)
c.3194C>A (p.Pro1065Gln)
c.3800C>A (p.Pro1267Gln)
c.4154C>A (p.Pro1385Gln)
2g.25742364G>ACA1557386ASXL2c.3970C>T (p.Pro1324Ser)
c.3973C>T (p.Pro1325Ser)
c.3889C>T (p.Pro1297Ser)
c.2422C>T (p.Pro808Ser)
c.3607C>T (p.Pro1203Ser)
c.3193C>T (p.Pro1065Ser)
c.3799C>T (p.Pro1267Ser)
c.4153C>T (p.Pro1385Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742364G>CCA346074908ASXL2c.3970C>G (p.Pro1324Ala)
c.3973C>G (p.Pro1325Ala)
c.3889C>G (p.Pro1297Ala)
c.2422C>G (p.Pro808Ala)
c.3607C>G (p.Pro1203Ala)
c.3193C>G (p.Pro1065Ala)
c.3799C>G (p.Pro1267Ala)
c.4153C>G (p.Pro1385Ala)
 gnomAD v4
2g.25742364G=CA1239490427ASXL2c.3970C= (p.Pro1324=)
c.3973C= (p.Pro1325=)
c.3889C= (p.Pro1297=)
c.2422C= (p.Pro808=)
c.3607C= (p.Pro1203=)
c.3193C= (p.Pro1065=)
c.3799C= (p.Pro1267=)
c.4153C= (p.Pro1385=)
2g.25742364G>TCA346074905ASXL2c.3970C>A (p.Pro1324Thr)
c.3973C>A (p.Pro1325Thr)
c.3889C>A (p.Pro1297Thr)
c.2422C>A (p.Pro808Thr)
c.3607C>A (p.Pro1203Thr)
c.3193C>A (p.Pro1065Thr)
c.3799C>A (p.Pro1267Thr)
c.4153C>A (p.Pro1385Thr)
2g.25742365C>ACA425354692ASXL2c.3969G>T (p.Gly1323=)
c.3972G>T (p.Gly1324=)
c.3888G>T (p.Gly1296=)
c.2421G>T (p.Gly807=)
c.3606G>T (p.Gly1202=)
c.3192G>T (p.Gly1064=)
c.3798G>T (p.Gly1266=)
c.4152G>T (p.Gly1384=)
2g.25742365C>GCA425354693ASXL2c.3969G>C (p.Gly1323=)
c.3972G>C (p.Gly1324=)
c.3888G>C (p.Gly1296=)
c.2421G>C (p.Gly807=)
c.3606G>C (p.Gly1202=)
c.3192G>C (p.Gly1064=)
c.3798G>C (p.Gly1266=)
c.4152G>C (p.Gly1384=)
2g.25742365C>TCA425354694ASXL2c.3969G>A (p.Gly1323=)
c.3972G>A (p.Gly1324=)
c.3888G>A (p.Gly1296=)
c.2421G>A (p.Gly807=)
c.3606G>A (p.Gly1202=)
c.3192G>A (p.Gly1064=)
c.3798G>A (p.Gly1266=)
c.4152G>A (p.Gly1384=)
2g.25742366C>ACA346074911ASXL2c.3968G>T (p.Gly1323Val)
c.3971G>T (p.Gly1324Val)
c.3887G>T (p.Gly1296Val)
c.2420G>T (p.Gly807Val)
c.3605G>T (p.Gly1202Val)
c.3191G>T (p.Gly1064Val)
c.3797G>T (p.Gly1266Val)
c.4151G>T (p.Gly1384Val)
2g.25742366C=CA1239490428ASXL2c.3968G= (p.Gly1323=)
c.3971G= (p.Gly1324=)
c.3887G= (p.Gly1296=)
c.2420G= (p.Gly807=)
c.3605G= (p.Gly1202=)
c.3191G= (p.Gly1064=)
c.3797G= (p.Gly1266=)
c.4151G= (p.Gly1384=)
2g.25742366C>GCA346074915ASXL2c.3968G>C (p.Gly1323Ala)
c.3971G>C (p.Gly1324Ala)
c.3887G>C (p.Gly1296Ala)
c.2420G>C (p.Gly807Ala)
c.3605G>C (p.Gly1202Ala)
c.3191G>C (p.Gly1064Ala)
c.3797G>C (p.Gly1266Ala)
c.4151G>C (p.Gly1384Ala)
 gnomAD v4
2g.25742366C>TCA1557387ASXL2c.3968G>A (p.Gly1323Glu)
c.3971G>A (p.Gly1324Glu)
c.3887G>A (p.Gly1296Glu)
c.2420G>A (p.Gly807Glu)
c.3605G>A (p.Gly1202Glu)
c.3191G>A (p.Gly1064Glu)
c.3797G>A (p.Gly1266Glu)
c.4151G>A (p.Gly1384Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742367C>ACA346074921ASXL2c.3967G>T (p.Gly1323Trp)
c.3970G>T (p.Gly1324Trp)
c.3886G>T (p.Gly1296Trp)
c.2419G>T (p.Gly807Trp)
c.3604G>T (p.Gly1202Trp)
c.3190G>T (p.Gly1064Trp)
c.3796G>T (p.Gly1266Trp)
c.4150G>T (p.Gly1384Trp)
2g.25742367C>GCA346074926ASXL2c.3967G>C (p.Gly1323Arg)
c.3970G>C (p.Gly1324Arg)
c.3886G>C (p.Gly1296Arg)
c.2419G>C (p.Gly807Arg)
c.3604G>C (p.Gly1202Arg)
c.3190G>C (p.Gly1064Arg)
c.3796G>C (p.Gly1266Arg)
c.4150G>C (p.Gly1384Arg)
2g.25742367C>TCA346074929ASXL2c.3967G>A (p.Gly1323Arg)
c.3970G>A (p.Gly1324Arg)
c.3886G>A (p.Gly1296Arg)
c.2419G>A (p.Gly807Arg)
c.3604G>A (p.Gly1202Arg)
c.3190G>A (p.Gly1064Arg)
c.3796G>A (p.Gly1266Arg)
c.4150G>A (p.Gly1384Arg)
2g.25742368T>ACA425354698ASXL2c.3966A>T (p.Ile1322=)
c.3969A>T (p.Ile1323=)
c.3885A>T (p.Ile1295=)
c.2418A>T (p.Ile806=)
c.3603A>T (p.Ile1201=)
c.3189A>T (p.Ile1063=)
c.3795A>T (p.Ile1265=)
c.4149A>T (p.Ile1383=)
2g.25742368T>CCA346074935ASXL2c.3966A>G (p.Ile1322Met)
c.3969A>G (p.Ile1323Met)
c.3885A>G (p.Ile1295Met)
c.2418A>G (p.Ile806Met)
c.3603A>G (p.Ile1201Met)
c.3189A>G (p.Ile1063Met)
c.3795A>G (p.Ile1265Met)
c.4149A>G (p.Ile1383Met)
 gnomAD v4
2g.25742368T>GCA425354700ASXL2c.3966A>C (p.Ile1322=)
c.3969A>C (p.Ile1323=)
c.3885A>C (p.Ile1295=)
c.2418A>C (p.Ile806=)
c.3603A>C (p.Ile1201=)
c.3189A>C (p.Ile1063=)
c.3795A>C (p.Ile1265=)
c.4149A>C (p.Ile1383=)
2g.25742369A>CCA346074937ASXL2c.3965T>G (p.Ile1322Arg)
c.3968T>G (p.Ile1323Arg)
c.3884T>G (p.Ile1295Arg)
c.2417T>G (p.Ile806Arg)
c.3602T>G (p.Ile1201Arg)
c.3188T>G (p.Ile1063Arg)
c.3794T>G (p.Ile1265Arg)
c.4148T>G (p.Ile1383Arg)
2g.25742369A>GCA346074940ASXL2c.3965T>C (p.Ile1322Thr)
c.3968T>C (p.Ile1323Thr)
c.3884T>C (p.Ile1295Thr)
c.2417T>C (p.Ile806Thr)
c.3602T>C (p.Ile1201Thr)
c.3188T>C (p.Ile1063Thr)
c.3794T>C (p.Ile1265Thr)
c.4148T>C (p.Ile1383Thr)
2g.25742369A>TCA346074944ASXL2c.3965T>A (p.Ile1322Lys)
c.3968T>A (p.Ile1323Lys)
c.3884T>A (p.Ile1295Lys)
c.2417T>A (p.Ile806Lys)
c.3602T>A (p.Ile1201Lys)
c.3188T>A (p.Ile1063Lys)
c.3794T>A (p.Ile1265Lys)
c.4148T>A (p.Ile1383Lys)
2g.25742370T>ACA43734244ASXL2c.3964A>T (p.Ile1322Leu)
c.3967A>T (p.Ile1323Leu)
c.3883A>T (p.Ile1295Leu)
c.2416A>T (p.Ile806Leu)
c.3601A>T (p.Ile1201Leu)
c.3187A>T (p.Ile1063Leu)
c.3793A>T (p.Ile1265Leu)
c.4147A>T (p.Ile1383Leu)
 dbSNP gnomAD v2
2g.25742370T>CCA346074950ASXL2c.3964A>G (p.Ile1322Val)
c.3967A>G (p.Ile1323Val)
c.3883A>G (p.Ile1295Val)
c.2416A>G (p.Ile806Val)
c.3601A>G (p.Ile1201Val)
c.3187A>G (p.Ile1063Val)
c.3793A>G (p.Ile1265Val)
c.4147A>G (p.Ile1383Val)
2g.25742370T>GCA346074954ASXL2c.3964A>C (p.Ile1322Leu)
c.3967A>C (p.Ile1323Leu)
c.3883A>C (p.Ile1295Leu)
c.2416A>C (p.Ile806Leu)
c.3601A>C (p.Ile1201Leu)
c.3187A>C (p.Ile1063Leu)
c.3793A>C (p.Ile1265Leu)
c.4147A>C (p.Ile1383Leu)
2g.25742370T=CA1239490429ASXL2c.3964A= (p.Ile1322=)
c.3967A= (p.Ile1323=)
c.3883A= (p.Ile1295=)
c.2416A= (p.Ile806=)
c.3601A= (p.Ile1201=)
c.3187A= (p.Ile1063=)
c.3793A= (p.Ile1265=)
c.4147A= (p.Ile1383=)
2g.25742371C>ACA346074958ASXL2c.3963G>T (p.Gln1321His)
c.3966G>T (p.Gln1322His)
c.3882G>T (p.Gln1294His)
c.2415G>T (p.Gln805His)
c.3600G>T (p.Gln1200His)
c.3186G>T (p.Gln1062His)
c.3792G>T (p.Gln1264His)
c.4146G>T (p.Gln1382His)
2g.25742371C=CA1239490430ASXL2c.3963G= (p.Gln1321=)
c.3966G= (p.Gln1322=)
c.3882G= (p.Gln1294=)
c.2415G= (p.Gln805=)
c.3600G= (p.Gln1200=)
c.3186G= (p.Gln1062=)
c.3792G= (p.Gln1264=)
c.4146G= (p.Gln1382=)
2g.25742371C>GCA43734245ASXL2c.3963G>C (p.Gln1321His)
c.3966G>C (p.Gln1322His)
c.3882G>C (p.Gln1294His)
c.2415G>C (p.Gln805His)
c.3600G>C (p.Gln1200His)
c.3186G>C (p.Gln1062His)
c.3792G>C (p.Gln1264His)
c.4146G>C (p.Gln1382His)
 dbSNP COSMIC COSMIC
2g.25742371C>TCA425354707ASXL2c.3963G>A (p.Gln1321=)
c.3966G>A (p.Gln1322=)
c.3882G>A (p.Gln1294=)
c.2415G>A (p.Gln805=)
c.3600G>A (p.Gln1200=)
c.3186G>A (p.Gln1062=)
c.3792G>A (p.Gln1264=)
c.4146G>A (p.Gln1382=)
 COSMIC COSMIC
2g.25742372T>ACA346074962ASXL2c.3962A>T (p.Gln1321Leu)
c.3965A>T (p.Gln1322Leu)
c.3881A>T (p.Gln1294Leu)
c.2414A>T (p.Gln805Leu)
c.3599A>T (p.Gln1200Leu)
c.3185A>T (p.Gln1062Leu)
c.3791A>T (p.Gln1264Leu)
c.4145A>T (p.Gln1382Leu)
2g.25742372T>CCA346074966ASXL2c.3962A>G (p.Gln1321Arg)
c.3965A>G (p.Gln1322Arg)
c.3881A>G (p.Gln1294Arg)
c.2414A>G (p.Gln805Arg)
c.3599A>G (p.Gln1200Arg)
c.3185A>G (p.Gln1062Arg)
c.3791A>G (p.Gln1264Arg)
c.4145A>G (p.Gln1382Arg)
2g.25742372T>GCA346074969ASXL2c.3962A>C (p.Gln1321Pro)
c.3965A>C (p.Gln1322Pro)
c.3881A>C (p.Gln1294Pro)
c.2414A>C (p.Gln805Pro)
c.3599A>C (p.Gln1200Pro)
c.3185A>C (p.Gln1062Pro)
c.3791A>C (p.Gln1264Pro)
c.4145A>C (p.Gln1382Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.25742372T=CA1239490431ASXL2c.3962A= (p.Gln1321=)
c.3965A= (p.Gln1322=)
c.3881A= (p.Gln1294=)
c.2414A= (p.Gln805=)
c.3599A= (p.Gln1200=)
c.3185A= (p.Gln1062=)
c.3791A= (p.Gln1264=)
c.4145A= (p.Gln1382=)
2g.25742373G>ACA346074973ASXL2c.3961C>T (p.Gln1321Ter)
c.3964C>T (p.Gln1322Ter)
c.3880C>T (p.Gln1294Ter)
c.2413C>T (p.Gln805Ter)
c.3598C>T (p.Gln1200Ter)
c.3184C>T (p.Gln1062Ter)
c.3790C>T (p.Gln1264Ter)
c.4144C>T (p.Gln1382Ter)
2g.25742373G>CCA346074976ASXL2c.3961C>G (p.Gln1321Glu)
c.3964C>G (p.Gln1322Glu)
c.3880C>G (p.Gln1294Glu)
c.2413C>G (p.Gln805Glu)
c.3598C>G (p.Gln1200Glu)
c.3184C>G (p.Gln1062Glu)
c.3790C>G (p.Gln1264Glu)
c.4144C>G (p.Gln1382Glu)
2g.25742373G=CA1239490432ASXL2c.3961C= (p.Gln1321=)
c.3964C= (p.Gln1322=)
c.3880C= (p.Gln1294=)
c.2413C= (p.Gln805=)
c.3598C= (p.Gln1200=)
c.3184C= (p.Gln1062=)
c.3790C= (p.Gln1264=)
c.4144C= (p.Gln1382=)
2g.25742373G>TCA346074978ASXL2c.3961C>A (p.Gln1321Lys)
c.3964C>A (p.Gln1322Lys)
c.3880C>A (p.Gln1294Lys)
c.2413C>A (p.Gln805Lys)
c.3598C>A (p.Gln1200Lys)
c.3184C>A (p.Gln1062Lys)
c.3790C>A (p.Gln1264Lys)
c.4144C>A (p.Gln1382Lys)
 dbSNP
2g.25742374G>ACA425354719ASXL2c.3960C>T (p.Thr1320=)
c.3963C>T (p.Thr1321=)
c.3879C>T (p.Thr1293=)
c.2412C>T (p.Thr804=)
c.3597C>T (p.Thr1199=)
c.3183C>T (p.Thr1061=)
c.3789C>T (p.Thr1263=)
c.4143C>T (p.Thr1381=)
 dbSNP gnomAD v2 gnomAD v4
2g.25742374G>CCA425354720ASXL2c.3960C>G (p.Thr1320=)
c.3963C>G (p.Thr1321=)
c.3879C>G (p.Thr1293=)
c.2412C>G (p.Thr804=)
c.3597C>G (p.Thr1199=)
c.3183C>G (p.Thr1061=)
c.3789C>G (p.Thr1263=)
c.4143C>G (p.Thr1381=)
2g.25742374G=CA1239490433ASXL2c.3960C= (p.Thr1320=)
c.3963C= (p.Thr1321=)
c.3879C= (p.Thr1293=)
c.2412C= (p.Thr804=)
c.3597C= (p.Thr1199=)
c.3183C= (p.Thr1061=)
c.3789C= (p.Thr1263=)
c.4143C= (p.Thr1381=)
2g.25742374G>TCA425354723ASXL2c.3960C>A (p.Thr1320=)
c.3963C>A (p.Thr1321=)
c.3879C>A (p.Thr1293=)
c.2412C>A (p.Thr804=)
c.3597C>A (p.Thr1199=)
c.3183C>A (p.Thr1061=)
c.3789C>A (p.Thr1263=)
c.4143C>A (p.Thr1381=)
 dbSNP gnomAD v2 gnomAD v4
2g.25742375G>ACA346074983ASXL2c.3959C>T (p.Thr1320Ile)
c.3962C>T (p.Thr1321Ile)
c.3878C>T (p.Thr1293Ile)
c.2411C>T (p.Thr804Ile)
c.3596C>T (p.Thr1199Ile)
c.3182C>T (p.Thr1061Ile)
c.3788C>T (p.Thr1263Ile)
c.4142C>T (p.Thr1381Ile)
 gnomAD v4
2g.25742375G>CCA346074986ASXL2c.3959C>G (p.Thr1320Ser)
c.3962C>G (p.Thr1321Ser)
c.3878C>G (p.Thr1293Ser)
c.2411C>G (p.Thr804Ser)
c.3596C>G (p.Thr1199Ser)
c.3182C>G (p.Thr1061Ser)
c.3788C>G (p.Thr1263Ser)
c.4142C>G (p.Thr1381Ser)
2g.25742375G=CA1239490434ASXL2c.3959C= (p.Thr1320=)
c.3962C= (p.Thr1321=)
c.3878C= (p.Thr1293=)
c.2411C= (p.Thr804=)
c.3596C= (p.Thr1199=)
c.3182C= (p.Thr1061=)
c.3788C= (p.Thr1263=)
c.4142C= (p.Thr1381=)
2g.25742375G>TCA1557388ASXL2c.3959C>A (p.Thr1320Asn)
c.3962C>A (p.Thr1321Asn)
c.3878C>A (p.Thr1293Asn)
c.2411C>A (p.Thr804Asn)
c.3596C>A (p.Thr1199Asn)
c.3182C>A (p.Thr1061Asn)
c.3788C>A (p.Thr1263Asn)
c.4142C>A (p.Thr1381Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742376T>ACA346074992ASXL2c.3958A>T (p.Thr1320Ser)
c.3961A>T (p.Thr1321Ser)
c.3877A>T (p.Thr1293Ser)
c.2410A>T (p.Thr804Ser)
c.3595A>T (p.Thr1199Ser)
c.3181A>T (p.Thr1061Ser)
c.3787A>T (p.Thr1263Ser)
c.4141A>T (p.Thr1381Ser)
2g.25742376T>CCA346074995ASXL2c.3958A>G (p.Thr1320Ala)
c.3961A>G (p.Thr1321Ala)
c.3877A>G (p.Thr1293Ala)
c.2410A>G (p.Thr804Ala)
c.3595A>G (p.Thr1199Ala)
c.3181A>G (p.Thr1061Ala)
c.3787A>G (p.Thr1263Ala)
c.4141A>G (p.Thr1381Ala)
2g.25742376T>GCA43734250ASXL2c.3958A>C (p.Thr1320Pro)
c.3961A>C (p.Thr1321Pro)
c.3877A>C (p.Thr1293Pro)
c.2410A>C (p.Thr804Pro)
c.3595A>C (p.Thr1199Pro)
c.3181A>C (p.Thr1061Pro)
c.3787A>C (p.Thr1263Pro)
c.4141A>C (p.Thr1381Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.25742376T=CA1239490435ASXL2c.3958A= (p.Thr1320=)
c.3961A= (p.Thr1321=)
c.3877A= (p.Thr1293=)
c.2410A= (p.Thr804=)
c.3595A= (p.Thr1199=)
c.3181A= (p.Thr1061=)
c.3787A= (p.Thr1263=)
c.4141A= (p.Thr1381=)
2g.25742377G>ACA425354729ASXL2c.3957C>T (p.Pro1319=)
c.3960C>T (p.Pro1320=)
c.3876C>T (p.Pro1292=)
c.2409C>T (p.Pro803=)
c.3594C>T (p.Pro1198=)
c.3180C>T (p.Pro1060=)
c.3786C>T (p.Pro1262=)
c.4140C>T (p.Pro1380=)
2g.25742377G>CCA425354731ASXL2c.3957C>G (p.Pro1319=)
c.3960C>G (p.Pro1320=)
c.3876C>G (p.Pro1292=)
c.2409C>G (p.Pro803=)
c.3594C>G (p.Pro1198=)
c.3180C>G (p.Pro1060=)
c.3786C>G (p.Pro1262=)
c.4140C>G (p.Pro1380=)
2g.25742377G>TCA425354734ASXL2c.3957C>A (p.Pro1319=)
c.3960C>A (p.Pro1320=)
c.3876C>A (p.Pro1292=)
c.2409C>A (p.Pro803=)
c.3594C>A (p.Pro1198=)
c.3180C>A (p.Pro1060=)
c.3786C>A (p.Pro1262=)
c.4140C>A (p.Pro1380=)
2g.25742378G>ACA346075002ASXL2c.3956C>T (p.Pro1319Leu)
c.3959C>T (p.Pro1320Leu)
c.3875C>T (p.Pro1292Leu)
c.2408C>T (p.Pro803Leu)
c.3593C>T (p.Pro1198Leu)
c.3179C>T (p.Pro1060Leu)
c.3785C>T (p.Pro1262Leu)
c.4139C>T (p.Pro1380Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742378G>CCA346075008ASXL2c.3956C>G (p.Pro1319Arg)
c.3959C>G (p.Pro1320Arg)
c.3875C>G (p.Pro1292Arg)
c.2408C>G (p.Pro803Arg)
c.3593C>G (p.Pro1198Arg)
c.3179C>G (p.Pro1060Arg)
c.3785C>G (p.Pro1262Arg)
c.4139C>G (p.Pro1380Arg)
2g.25742378G=CA1239490436ASXL2c.3956C= (p.Pro1319=)
c.3959C= (p.Pro1320=)
c.3875C= (p.Pro1292=)
c.2408C= (p.Pro803=)
c.3593C= (p.Pro1198=)
c.3179C= (p.Pro1060=)
c.3785C= (p.Pro1262=)
c.4139C= (p.Pro1380=)
2g.25742378G>TCA346075007ASXL2c.3956C>A (p.Pro1319His)
c.3959C>A (p.Pro1320His)
c.3875C>A (p.Pro1292His)
c.2408C>A (p.Pro803His)
c.3593C>A (p.Pro1198His)
c.3179C>A (p.Pro1060His)
c.3785C>A (p.Pro1262His)
c.4139C>A (p.Pro1380His)
2g.25742379G>ACA346075010ASXL2c.3955C>T (p.Pro1319Ser)
c.3958C>T (p.Pro1320Ser)
c.3874C>T (p.Pro1292Ser)
c.2407C>T (p.Pro803Ser)
c.3592C>T (p.Pro1198Ser)
c.3178C>T (p.Pro1060Ser)
c.3784C>T (p.Pro1262Ser)
c.4138C>T (p.Pro1380Ser)
 dbSNP gnomAD v4
2g.25742379G>CCA346075012ASXL2c.3955C>G (p.Pro1319Ala)
c.3958C>G (p.Pro1320Ala)
c.3874C>G (p.Pro1292Ala)
c.2407C>G (p.Pro803Ala)
c.3592C>G (p.Pro1198Ala)
c.3178C>G (p.Pro1060Ala)
c.3784C>G (p.Pro1262Ala)
c.4138C>G (p.Pro1380Ala)
2g.25742379G=CA1239490437ASXL2c.3955C= (p.Pro1319=)
c.3958C= (p.Pro1320=)
c.3874C= (p.Pro1292=)
c.2407C= (p.Pro803=)
c.3592C= (p.Pro1198=)
c.3178C= (p.Pro1060=)
c.3784C= (p.Pro1262=)
c.4138C= (p.Pro1380=)
2g.25742379G>TCA1557389ASXL2c.3955C>A (p.Pro1319Thr)
c.3958C>A (p.Pro1320Thr)
c.3874C>A (p.Pro1292Thr)
c.2407C>A (p.Pro803Thr)
c.3592C>A (p.Pro1198Thr)
c.3178C>A (p.Pro1060Thr)
c.3784C>A (p.Pro1262Thr)
c.4138C>A (p.Pro1380Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742380G>ACA425354739ASXL2c.3954C>T (p.Ser1318=)
c.3957C>T (p.Ser1319=)
c.3873C>T (p.Ser1291=)
c.2406C>T (p.Ser802=)
c.3591C>T (p.Ser1197=)
c.3177C>T (p.Ser1059=)
c.3783C>T (p.Ser1261=)
c.4137C>T (p.Ser1379=)
 dbSNP gnomAD v3 gnomAD v4
2g.25742380G>CCA346075020ASXL2c.3954C>G (p.Ser1318Arg)
c.3957C>G (p.Ser1319Arg)
c.3873C>G (p.Ser1291Arg)
c.2406C>G (p.Ser802Arg)
c.3591C>G (p.Ser1197Arg)
c.3177C>G (p.Ser1059Arg)
c.3783C>G (p.Ser1261Arg)
c.4137C>G (p.Ser1379Arg)
2g.25742380G=CA1239490438ASXL2c.3954C= (p.Ser1318=)
c.3957C= (p.Ser1319=)
c.3873C= (p.Ser1291=)
c.2406C= (p.Ser802=)
c.3591C= (p.Ser1197=)
c.3177C= (p.Ser1059=)
c.3783C= (p.Ser1261=)
c.4137C= (p.Ser1379=)
2g.25742380G>TCA346075022ASXL2c.3954C>A (p.Ser1318Arg)
c.3957C>A (p.Ser1319Arg)
c.3873C>A (p.Ser1291Arg)
c.2406C>A (p.Ser802Arg)
c.3591C>A (p.Ser1197Arg)
c.3177C>A (p.Ser1059Arg)
c.3783C>A (p.Ser1261Arg)
c.4137C>A (p.Ser1379Arg)
2g.25742381C>ACA346075033ASXL2c.3953G>T (p.Ser1318Ile)
c.3956G>T (p.Ser1319Ile)
c.3872G>T (p.Ser1291Ile)
c.2405G>T (p.Ser802Ile)
c.3590G>T (p.Ser1197Ile)
c.3176G>T (p.Ser1059Ile)
c.3782G>T (p.Ser1261Ile)
c.4136G>T (p.Ser1379Ile)
2g.25742381C>GCA346075029ASXL2c.3953G>C (p.Ser1318Thr)
c.3956G>C (p.Ser1319Thr)
c.3872G>C (p.Ser1291Thr)
c.2405G>C (p.Ser802Thr)
c.3590G>C (p.Ser1197Thr)
c.3176G>C (p.Ser1059Thr)
c.3782G>C (p.Ser1261Thr)
c.4136G>C (p.Ser1379Thr)
2g.25742381C>TCA346075027ASXL2c.3953G>A (p.Ser1318Asn)
c.3956G>A (p.Ser1319Asn)
c.3872G>A (p.Ser1291Asn)
c.2405G>A (p.Ser802Asn)
c.3590G>A (p.Ser1197Asn)
c.3176G>A (p.Ser1059Asn)
c.3782G>A (p.Ser1261Asn)
c.4136G>A (p.Ser1379Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.25742382T>ACA346075037ASXL2c.3952A>T (p.Ser1318Cys)
c.3955A>T (p.Ser1319Cys)
c.3871A>T (p.Ser1291Cys)
c.2404A>T (p.Ser802Cys)
c.3589A>T (p.Ser1197Cys)
c.3175A>T (p.Ser1059Cys)
c.3781A>T (p.Ser1261Cys)
c.4135A>T (p.Ser1379Cys)
2g.25742382T>CCA346075039ASXL2c.3952A>G (p.Ser1318Gly)
c.3955A>G (p.Ser1319Gly)
c.3871A>G (p.Ser1291Gly)
c.2404A>G (p.Ser802Gly)
c.3589A>G (p.Ser1197Gly)
c.3175A>G (p.Ser1059Gly)
c.3781A>G (p.Ser1261Gly)
c.4135A>G (p.Ser1379Gly)
2g.25742382T>GCA346075045ASXL2c.3952A>C (p.Ser1318Arg)
c.3955A>C (p.Ser1319Arg)
c.3871A>C (p.Ser1291Arg)
c.2404A>C (p.Ser802Arg)
c.3589A>C (p.Ser1197Arg)
c.3175A>C (p.Ser1059Arg)
c.3781A>C (p.Ser1261Arg)
c.4135A>C (p.Ser1379Arg)
2g.25742383T>ACA425354746ASXL2c.3951A>T (p.Gly1317=)
c.3954A>T (p.Gly1318=)
c.3870A>T (p.Gly1290=)
c.2403A>T (p.Gly801=)
c.3588A>T (p.Gly1196=)
c.3174A>T (p.Gly1058=)
c.3780A>T (p.Gly1260=)
c.4134A>T (p.Gly1378=)
2g.25742383T>CCA425354747ASXL2c.3951A>G (p.Gly1317=)
c.3954A>G (p.Gly1318=)
c.3870A>G (p.Gly1290=)
c.2403A>G (p.Gly801=)
c.3588A>G (p.Gly1196=)
c.3174A>G (p.Gly1058=)
c.3780A>G (p.Gly1260=)
c.4134A>G (p.Gly1378=)
2g.25742383T>GCA425354748ASXL2c.3951A>C (p.Gly1317=)
c.3954A>C (p.Gly1318=)
c.3870A>C (p.Gly1290=)
c.2403A>C (p.Gly801=)
c.3588A>C (p.Gly1196=)
c.3174A>C (p.Gly1058=)
c.3780A>C (p.Gly1260=)
c.4134A>C (p.Gly1378=)
2g.25742384C>ACA346075048ASXL2c.3950G>T (p.Gly1317Val)
c.3953G>T (p.Gly1318Val)
c.3869G>T (p.Gly1290Val)
c.2402G>T (p.Gly801Val)
c.3587G>T (p.Gly1196Val)
c.3173G>T (p.Gly1058Val)
c.3779G>T (p.Gly1260Val)
c.4133G>T (p.Gly1378Val)
2g.25742384C=CA1239490439ASXL2c.3950G= (p.Gly1317=)
c.3953G= (p.Gly1318=)
c.3869G= (p.Gly1290=)
c.2402G= (p.Gly801=)
c.3587G= (p.Gly1196=)
c.3173G= (p.Gly1058=)
c.3779G= (p.Gly1260=)
c.4133G= (p.Gly1378=)
2g.25742384C>GCA346075051ASXL2c.3950G>C (p.Gly1317Ala)
c.3953G>C (p.Gly1318Ala)
c.3869G>C (p.Gly1290Ala)
c.2402G>C (p.Gly801Ala)
c.3587G>C (p.Gly1196Ala)
c.3173G>C (p.Gly1058Ala)
c.3779G>C (p.Gly1260Ala)
c.4133G>C (p.Gly1378Ala)
 gnomAD v4
2g.25742384C>TCA1557390ASXL2c.3950G>A (p.Gly1317Glu)
c.3953G>A (p.Gly1318Glu)
c.3869G>A (p.Gly1290Glu)
c.2402G>A (p.Gly801Glu)
c.3587G>A (p.Gly1196Glu)
c.3173G>A (p.Gly1058Glu)
c.3779G>A (p.Gly1260Glu)
c.4133G>A (p.Gly1378Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742385C>ACA346075054ASXL2c.3949G>T (p.Gly1317Ter)
c.3952G>T (p.Gly1318Ter)
c.3868G>T (p.Gly1290Ter)
c.2401G>T (p.Gly801Ter)
c.3586G>T (p.Gly1196Ter)
c.3172G>T (p.Gly1058Ter)
c.3778G>T (p.Gly1260Ter)
c.4132G>T (p.Gly1378Ter)
2g.25742385C>GCA346075056ASXL2c.3949G>C (p.Gly1317Arg)
c.3952G>C (p.Gly1318Arg)
c.3868G>C (p.Gly1290Arg)
c.2401G>C (p.Gly801Arg)
c.3586G>C (p.Gly1196Arg)
c.3172G>C (p.Gly1058Arg)
c.3778G>C (p.Gly1260Arg)
c.4132G>C (p.Gly1378Arg)
2g.25742385C>TCA346075055ASXL2c.3949G>A (p.Gly1317Arg)
c.3952G>A (p.Gly1318Arg)
c.3868G>A (p.Gly1290Arg)
c.2401G>A (p.Gly801Arg)
c.3586G>A (p.Gly1196Arg)
c.3172G>A (p.Gly1058Arg)
c.3778G>A (p.Gly1260Arg)
c.4132G>A (p.Gly1378Arg)
2g.25742386A>CCA346075057ASXL2c.3948T>G (p.Tyr1316Ter)
c.3951T>G (p.Tyr1317Ter)
c.3867T>G (p.Tyr1289Ter)
c.2400T>G (p.Tyr800Ter)
c.3585T>G (p.Tyr1195Ter)
c.3171T>G (p.Tyr1057Ter)
c.3777T>G (p.Tyr1259Ter)
c.4131T>G (p.Tyr1377Ter)
2g.25742386A>GCA425354754ASXL2c.3948T>C (p.Tyr1316=)
c.3951T>C (p.Tyr1317=)
c.3867T>C (p.Tyr1289=)
c.2400T>C (p.Tyr800=)
c.3585T>C (p.Tyr1195=)
c.3171T>C (p.Tyr1057=)
c.3777T>C (p.Tyr1259=)
c.4131T>C (p.Tyr1377=)
2g.25742386A>TCA346075058ASXL2c.3948T>A (p.Tyr1316Ter)
c.3951T>A (p.Tyr1317Ter)
c.3867T>A (p.Tyr1289Ter)
c.2400T>A (p.Tyr800Ter)
c.3585T>A (p.Tyr1195Ter)
c.3171T>A (p.Tyr1057Ter)
c.3777T>A (p.Tyr1259Ter)
c.4131T>A (p.Tyr1377Ter)
2g.25742387T>ACA346075059ASXL2c.3947A>T (p.Tyr1316Phe)
c.3950A>T (p.Tyr1317Phe)
c.3866A>T (p.Tyr1289Phe)
c.2399A>T (p.Tyr800Phe)
c.3584A>T (p.Tyr1195Phe)
c.3170A>T (p.Tyr1057Phe)
c.3776A>T (p.Tyr1259Phe)
c.4130A>T (p.Tyr1377Phe)
2g.25742387T>CCA346075060ASXL2c.3947A>G (p.Tyr1316Cys)
c.3950A>G (p.Tyr1317Cys)
c.3866A>G (p.Tyr1289Cys)
c.2399A>G (p.Tyr800Cys)
c.3584A>G (p.Tyr1195Cys)
c.3170A>G (p.Tyr1057Cys)
c.3776A>G (p.Tyr1259Cys)
c.4130A>G (p.Tyr1377Cys)
 gnomAD v4
2g.25742387T>GCA346075061ASXL2c.3947A>C (p.Tyr1316Ser)
c.3950A>C (p.Tyr1317Ser)
c.3866A>C (p.Tyr1289Ser)
c.2399A>C (p.Tyr800Ser)
c.3584A>C (p.Tyr1195Ser)
c.3170A>C (p.Tyr1057Ser)
c.3776A>C (p.Tyr1259Ser)
c.4130A>C (p.Tyr1377Ser)
2g.25742388A>CCA346075062ASXL2c.3946T>G (p.Tyr1316Asp)
c.3949T>G (p.Tyr1317Asp)
c.3865T>G (p.Tyr1289Asp)
c.2398T>G (p.Tyr800Asp)
c.3583T>G (p.Tyr1195Asp)
c.3169T>G (p.Tyr1057Asp)
c.3775T>G (p.Tyr1259Asp)
c.4129T>G (p.Tyr1377Asp)
2g.25742388A>GCA346075063ASXL2c.3946T>C (p.Tyr1316His)
c.3949T>C (p.Tyr1317His)
c.3865T>C (p.Tyr1289His)
c.2398T>C (p.Tyr800His)
c.3583T>C (p.Tyr1195His)
c.3169T>C (p.Tyr1057His)
c.3775T>C (p.Tyr1259His)
c.4129T>C (p.Tyr1377His)
2g.25742388A>TCA346075064ASXL2c.3946T>A (p.Tyr1316Asn)
c.3949T>A (p.Tyr1317Asn)
c.3865T>A (p.Tyr1289Asn)
c.2398T>A (p.Tyr800Asn)
c.3583T>A (p.Tyr1195Asn)
c.3169T>A (p.Tyr1057Asn)
c.3775T>A (p.Tyr1259Asn)
c.4129T>A (p.Tyr1377Asn)
2g.25742389C>ACA346075066ASXL2c.3945G>T (p.Leu1315Phe)
c.3948G>T (p.Leu1316Phe)
c.3864G>T (p.Leu1288Phe)
c.2397G>T (p.Leu799Phe)
c.3582G>T (p.Leu1194Phe)
c.3168G>T (p.Leu1056Phe)
c.3774G>T (p.Leu1258Phe)
c.4128G>T (p.Leu1376Phe)
 gnomAD v4
2g.25742389C=CA1239490440ASXL2c.3945G= (p.Leu1315=)
c.3948G= (p.Leu1316=)
c.3864G= (p.Leu1288=)
c.2397G= (p.Leu799=)
c.3582G= (p.Leu1194=)
c.3168G= (p.Leu1056=)
c.3774G= (p.Leu1258=)
c.4128G= (p.Leu1376=)
2g.25742389C>GCA346075069ASXL2c.3945G>C (p.Leu1315Phe)
c.3948G>C (p.Leu1316Phe)
c.3864G>C (p.Leu1288Phe)
c.2397G>C (p.Leu799Phe)
c.3582G>C (p.Leu1194Phe)
c.3168G>C (p.Leu1056Phe)
c.3774G>C (p.Leu1258Phe)
c.4128G>C (p.Leu1376Phe)
 gnomAD v4
2g.25742389C>TCA43734255ASXL2c.3945G>A (p.Leu1315=)
c.3948G>A (p.Leu1316=)
c.3864G>A (p.Leu1288=)
c.2397G>A (p.Leu799=)
c.3582G>A (p.Leu1194=)
c.3168G>A (p.Leu1056=)
c.3774G>A (p.Leu1258=)
c.4128G>A (p.Leu1376=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742390A>CCA346075074ASXL2c.3944T>G (p.Leu1315Trp)
c.3947T>G (p.Leu1316Trp)
c.3863T>G (p.Leu1288Trp)
c.2396T>G (p.Leu799Trp)
c.3581T>G (p.Leu1194Trp)
c.3167T>G (p.Leu1056Trp)
c.3773T>G (p.Leu1258Trp)
c.4127T>G (p.Leu1376Trp)
2g.25742390A>GCA346075082ASXL2c.3944T>C (p.Leu1315Ser)
c.3947T>C (p.Leu1316Ser)
c.3863T>C (p.Leu1288Ser)
c.2396T>C (p.Leu799Ser)
c.3581T>C (p.Leu1194Ser)
c.3167T>C (p.Leu1056Ser)
c.3773T>C (p.Leu1258Ser)
c.4127T>C (p.Leu1376Ser)
2g.25742390A>TCA346075078ASXL2c.3944T>A (p.Leu1315Ter)
c.3947T>A (p.Leu1316Ter)
c.3863T>A (p.Leu1288Ter)
c.2396T>A (p.Leu799Ter)
c.3581T>A (p.Leu1194Ter)
c.3167T>A (p.Leu1056Ter)
c.3773T>A (p.Leu1258Ter)
c.4127T>A (p.Leu1376Ter)
2g.25742391A=CA1239490441ASXL2c.3943T= (p.Leu1315=)
c.3946T= (p.Leu1316=)
c.3862T= (p.Leu1288=)
c.2395T= (p.Leu799=)
c.3580T= (p.Leu1194=)
c.3166T= (p.Leu1056=)
c.3772T= (p.Leu1258=)
c.4126T= (p.Leu1376=)
2g.25742391A>CCA346075085ASXL2c.3943T>G (p.Leu1315Val)
c.3946T>G (p.Leu1316Val)
c.3862T>G (p.Leu1288Val)
c.2395T>G (p.Leu799Val)
c.3580T>G (p.Leu1194Val)
c.3166T>G (p.Leu1056Val)
c.3772T>G (p.Leu1258Val)
c.4126T>G (p.Leu1376Val)
2g.25742391A>GCA425354758ASXL2c.3943T>C (p.Leu1315=)
c.3946T>C (p.Leu1316=)
c.3862T>C (p.Leu1288=)
c.2395T>C (p.Leu799=)
c.3580T>C (p.Leu1194=)
c.3166T>C (p.Leu1056=)
c.3772T>C (p.Leu1258=)
c.4126T>C (p.Leu1376=)
2g.25742391A>TCA346075086ASXL2c.3943T>A (p.Leu1315Met)
c.3946T>A (p.Leu1316Met)
c.3862T>A (p.Leu1288Met)
c.2395T>A (p.Leu799Met)
c.3580T>A (p.Leu1194Met)
c.3166T>A (p.Leu1056Met)
c.3772T>A (p.Leu1258Met)
c.4126T>A (p.Leu1376Met)
 dbSNP
2g.25742392C>ACA346075088ASXL2c.3942G>T (p.Lys1314Asn)
c.3945G>T (p.Lys1315Asn)
c.3861G>T (p.Lys1287Asn)
c.2394G>T (p.Lys798Asn)
c.3579G>T (p.Lys1193Asn)
c.3165G>T (p.Lys1055Asn)
c.3771G>T (p.Lys1257Asn)
c.4125G>T (p.Lys1375Asn)
2g.25742392C>GCA346075090ASXL2c.3942G>C (p.Lys1314Asn)
c.3945G>C (p.Lys1315Asn)
c.3861G>C (p.Lys1287Asn)
c.2394G>C (p.Lys798Asn)
c.3579G>C (p.Lys1193Asn)
c.3165G>C (p.Lys1055Asn)
c.3771G>C (p.Lys1257Asn)
c.4125G>C (p.Lys1375Asn)
2g.25742392C>TCA425354761ASXL2c.3942G>A (p.Lys1314=)
c.3945G>A (p.Lys1315=)
c.3861G>A (p.Lys1287=)
c.2394G>A (p.Lys798=)
c.3579G>A (p.Lys1193=)
c.3165G>A (p.Lys1055=)
c.3771G>A (p.Lys1257=)
c.4125G>A (p.Lys1375=)
2g.25742393T>ACA346075095ASXL2c.3941A>T (p.Lys1314Met)
c.3944A>T (p.Lys1315Met)
c.3860A>T (p.Lys1287Met)
c.2393A>T (p.Lys798Met)
c.3578A>T (p.Lys1193Met)
c.3164A>T (p.Lys1055Met)
c.3770A>T (p.Lys1257Met)
c.4124A>T (p.Lys1375Met)
2g.25742393T>CCA346075097ASXL2c.3941A>G (p.Lys1314Arg)
c.3944A>G (p.Lys1315Arg)
c.3860A>G (p.Lys1287Arg)
c.2393A>G (p.Lys798Arg)
c.3578A>G (p.Lys1193Arg)
c.3164A>G (p.Lys1055Arg)
c.3770A>G (p.Lys1257Arg)
c.4124A>G (p.Lys1375Arg)
 COSMIC COSMIC
2g.25742393T>GCA346075099ASXL2c.3941A>C (p.Lys1314Thr)
c.3944A>C (p.Lys1315Thr)
c.3860A>C (p.Lys1287Thr)
c.2393A>C (p.Lys798Thr)
c.3578A>C (p.Lys1193Thr)
c.3164A>C (p.Lys1055Thr)
c.3770A>C (p.Lys1257Thr)
c.4124A>C (p.Lys1375Thr)
2g.25742394T>ACA346075103ASXL2c.3940A>T (p.Lys1314Ter)
c.3943A>T (p.Lys1315Ter)
c.3859A>T (p.Lys1287Ter)
c.2392A>T (p.Lys798Ter)
c.3577A>T (p.Lys1193Ter)
c.3163A>T (p.Lys1055Ter)
c.3769A>T (p.Lys1257Ter)
c.4123A>T (p.Lys1375Ter)
2g.25742394T>CCA346075106ASXL2c.3940A>G (p.Lys1314Glu)
c.3943A>G (p.Lys1315Glu)
c.3859A>G (p.Lys1287Glu)
c.2392A>G (p.Lys798Glu)
c.3577A>G (p.Lys1193Glu)
c.3163A>G (p.Lys1055Glu)
c.3769A>G (p.Lys1257Glu)
c.4123A>G (p.Lys1375Glu)
2g.25742394T>GCA346075108ASXL2c.3940A>C (p.Lys1314Gln)
c.3943A>C (p.Lys1315Gln)
c.3859A>C (p.Lys1287Gln)
c.2392A>C (p.Lys798Gln)
c.3577A>C (p.Lys1193Gln)
c.3163A>C (p.Lys1055Gln)
c.3769A>C (p.Lys1257Gln)
c.4123A>C (p.Lys1375Gln)
2g.25742395C>ACA425354768ASXL2c.3939G>T (p.Pro1313=)
c.3942G>T (p.Pro1314=)
c.3858G>T (p.Pro1286=)
c.2391G>T (p.Pro797=)
c.3576G>T (p.Pro1192=)
c.3162G>T (p.Pro1054=)
c.3768G>T (p.Pro1256=)
c.4122G>T (p.Pro1374=)
2g.25742395C=CA1239490442ASXL2c.3939G= (p.Pro1313=)
c.3942G= (p.Pro1314=)
c.3858G= (p.Pro1286=)
c.2391G= (p.Pro797=)
c.3576G= (p.Pro1192=)
c.3162G= (p.Pro1054=)
c.3768G= (p.Pro1256=)
c.4122G= (p.Pro1374=)
2g.25742395C>GCA425354766ASXL2c.3939G>C (p.Pro1313=)
c.3942G>C (p.Pro1314=)
c.3858G>C (p.Pro1286=)
c.2391G>C (p.Pro797=)
c.3576G>C (p.Pro1192=)
c.3162G>C (p.Pro1054=)
c.3768G>C (p.Pro1256=)
c.4122G>C (p.Pro1374=)
 dbSNP gnomAD v4
2g.25742395C>TCA1557391ASXL2c.3939G>A (p.Pro1313=)
c.3942G>A (p.Pro1314=)
c.3858G>A (p.Pro1286=)
c.2391G>A (p.Pro797=)
c.3576G>A (p.Pro1192=)
c.3162G>A (p.Pro1054=)
c.3768G>A (p.Pro1256=)
c.4122G>A (p.Pro1374=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742396G>ACA1557393ASXL2c.3938C>T (p.Pro1313Leu)
c.3941C>T (p.Pro1314Leu)
c.3857C>T (p.Pro1286Leu)
c.2390C>T (p.Pro797Leu)
c.3575C>T (p.Pro1192Leu)
c.3161C>T (p.Pro1054Leu)
c.3767C>T (p.Pro1256Leu)
c.4121C>T (p.Pro1374Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742396G>CCA1557392ASXL2c.3938C>G (p.Pro1313Arg)
c.3941C>G (p.Pro1314Arg)
c.3857C>G (p.Pro1286Arg)
c.2390C>G (p.Pro797Arg)
c.3575C>G (p.Pro1192Arg)
c.3161C>G (p.Pro1054Arg)
c.3767C>G (p.Pro1256Arg)
c.4121C>G (p.Pro1374Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742396G=CA1239490443ASXL2c.3938C= (p.Pro1313=)
c.3941C= (p.Pro1314=)
c.3857C= (p.Pro1286=)
c.2390C= (p.Pro797=)
c.3575C= (p.Pro1192=)
c.3161C= (p.Pro1054=)
c.3767C= (p.Pro1256=)
c.4121C= (p.Pro1374=)
2g.25742396G>TCA346075115ASXL2c.3938C>A (p.Pro1313Gln)
c.3941C>A (p.Pro1314Gln)
c.3857C>A (p.Pro1286Gln)
c.2390C>A (p.Pro797Gln)
c.3575C>A (p.Pro1192Gln)
c.3161C>A (p.Pro1054Gln)
c.3767C>A (p.Pro1256Gln)
c.4121C>A (p.Pro1374Gln)
2g.25742397G>ACA346075120ASXL2c.3937C>T (p.Pro1313Ser)
c.3940C>T (p.Pro1314Ser)
c.3856C>T (p.Pro1286Ser)
c.2389C>T (p.Pro797Ser)
c.3574C>T (p.Pro1192Ser)
c.3160C>T (p.Pro1054Ser)
c.3766C>T (p.Pro1256Ser)
c.4120C>T (p.Pro1374Ser)
2g.25742397G>CCA346075122ASXL2c.3937C>G (p.Pro1313Ala)
c.3940C>G (p.Pro1314Ala)
c.3856C>G (p.Pro1286Ala)
c.2389C>G (p.Pro797Ala)
c.3574C>G (p.Pro1192Ala)
c.3160C>G (p.Pro1054Ala)
c.3766C>G (p.Pro1256Ala)
c.4120C>G (p.Pro1374Ala)
2g.25742397G=CA1239490444ASXL2c.3937C= (p.Pro1313=)
c.3940C= (p.Pro1314=)
c.3856C= (p.Pro1286=)
c.2389C= (p.Pro797=)
c.3574C= (p.Pro1192=)
c.3160C= (p.Pro1054=)
c.3766C= (p.Pro1256=)
c.4120C= (p.Pro1374=)
2g.25742397G>TCA1557394ASXL2c.3937C>A (p.Pro1313Thr)
c.3940C>A (p.Pro1314Thr)
c.3856C>A (p.Pro1286Thr)
c.2389C>A (p.Pro797Thr)
c.3574C>A (p.Pro1192Thr)
c.3160C>A (p.Pro1054Thr)
c.3766C>A (p.Pro1256Thr)
c.4120C>A (p.Pro1374Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742398G>ACA1557395ASXL2c.3936C>T (p.Thr1312=)
c.3939C>T (p.Thr1313=)
c.3855C>T (p.Thr1285=)
c.2388C>T (p.Thr796=)
c.3573C>T (p.Thr1191=)
c.3159C>T (p.Thr1053=)
c.3765C>T (p.Thr1255=)
c.4119C>T (p.Thr1373=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742398G>CCA425354775ASXL2c.3936C>G (p.Thr1312=)
c.3939C>G (p.Thr1313=)
c.3855C>G (p.Thr1285=)
c.2388C>G (p.Thr796=)
c.3573C>G (p.Thr1191=)
c.3159C>G (p.Thr1053=)
c.3765C>G (p.Thr1255=)
c.4119C>G (p.Thr1373=)
 gnomAD v4
2g.25742398G=CA1239490445ASXL2c.3936C= (p.Thr1312=)
c.3939C= (p.Thr1313=)
c.3855C= (p.Thr1285=)
c.2388C= (p.Thr796=)
c.3573C= (p.Thr1191=)
c.3159C= (p.Thr1053=)
c.3765C= (p.Thr1255=)
c.4119C= (p.Thr1373=)
2g.25742398G>TCA425354777ASXL2c.3936C>A (p.Thr1312=)
c.3939C>A (p.Thr1313=)
c.3855C>A (p.Thr1285=)
c.2388C>A (p.Thr796=)
c.3573C>A (p.Thr1191=)
c.3159C>A (p.Thr1053=)
c.3765C>A (p.Thr1255=)
c.4119C>A (p.Thr1373=)
2g.25742399G>ACA346075132ASXL2c.3935C>T (p.Thr1312Ile)
c.3938C>T (p.Thr1313Ile)
c.3854C>T (p.Thr1285Ile)
c.2387C>T (p.Thr796Ile)
c.3572C>T (p.Thr1191Ile)
c.3158C>T (p.Thr1053Ile)
c.3764C>T (p.Thr1255Ile)
c.4118C>T (p.Thr1373Ile)
2g.25742399G>CCA346075135ASXL2c.3935C>G (p.Thr1312Ser)
c.3938C>G (p.Thr1313Ser)
c.3854C>G (p.Thr1285Ser)
c.2387C>G (p.Thr796Ser)
c.3572C>G (p.Thr1191Ser)
c.3158C>G (p.Thr1053Ser)
c.3764C>G (p.Thr1255Ser)
c.4118C>G (p.Thr1373Ser)
2g.25742399G>TCA346075138ASXL2c.3935C>A (p.Thr1312Asn)
c.3938C>A (p.Thr1313Asn)
c.3854C>A (p.Thr1285Asn)
c.2387C>A (p.Thr796Asn)
c.3572C>A (p.Thr1191Asn)
c.3158C>A (p.Thr1053Asn)
c.3764C>A (p.Thr1255Asn)
c.4118C>A (p.Thr1373Asn)
2g.25742400T>ACA346075141ASXL2c.3934A>T (p.Thr1312Ser)
c.3937A>T (p.Thr1313Ser)
c.3853A>T (p.Thr1285Ser)
c.2386A>T (p.Thr796Ser)
c.3571A>T (p.Thr1191Ser)
c.3157A>T (p.Thr1053Ser)
c.3763A>T (p.Thr1255Ser)
c.4117A>T (p.Thr1373Ser)
2g.25742400T>CCA346075144ASXL2c.3934A>G (p.Thr1312Ala)
c.3937A>G (p.Thr1313Ala)
c.3853A>G (p.Thr1285Ala)
c.2386A>G (p.Thr796Ala)
c.3571A>G (p.Thr1191Ala)
c.3157A>G (p.Thr1053Ala)
c.3763A>G (p.Thr1255Ala)
c.4117A>G (p.Thr1373Ala)
2g.25742400T>GCA346075147ASXL2c.3934A>C (p.Thr1312Pro)
c.3937A>C (p.Thr1313Pro)
c.3853A>C (p.Thr1285Pro)
c.2386A>C (p.Thr796Pro)
c.3571A>C (p.Thr1191Pro)
c.3157A>C (p.Thr1053Pro)
c.3763A>C (p.Thr1255Pro)
c.4117A>C (p.Thr1373Pro)
2g.25742401T>ACA346075151ASXL2c.3933A>T (p.Gln1311His)
c.3936A>T (p.Gln1312His)
c.3852A>T (p.Gln1284His)
c.2385A>T (p.Gln795His)
c.3570A>T (p.Gln1190His)
c.3156A>T (p.Gln1052His)
c.3762A>T (p.Gln1254His)
c.4116A>T (p.Gln1372His)
2g.25742401T>CCA425354782ASXL2c.3933A>G (p.Gln1311=)
c.3936A>G (p.Gln1312=)
c.3852A>G (p.Gln1284=)
c.2385A>G (p.Gln795=)
c.3570A>G (p.Gln1190=)
c.3156A>G (p.Gln1052=)
c.3762A>G (p.Gln1254=)
c.4116A>G (p.Gln1372=)
2g.25742401T>GCA346075154ASXL2c.3933A>C (p.Gln1311His)
c.3936A>C (p.Gln1312His)
c.3852A>C (p.Gln1284His)
c.2385A>C (p.Gln795His)
c.3570A>C (p.Gln1190His)
c.3156A>C (p.Gln1052His)
c.3762A>C (p.Gln1254His)
c.4116A>C (p.Gln1372His)
2g.25742402T>ACA346075161ASXL2c.3932A>T (p.Gln1311Leu)
c.3935A>T (p.Gln1312Leu)
c.3851A>T (p.Gln1284Leu)
c.2384A>T (p.Gln795Leu)
c.3569A>T (p.Gln1190Leu)
c.3155A>T (p.Gln1052Leu)
c.3761A>T (p.Gln1254Leu)
c.4115A>T (p.Gln1372Leu)
2g.25742402T>CCA346075163ASXL2c.3932A>G (p.Gln1311Arg)
c.3935A>G (p.Gln1312Arg)
c.3851A>G (p.Gln1284Arg)
c.2384A>G (p.Gln795Arg)
c.3569A>G (p.Gln1190Arg)
c.3155A>G (p.Gln1052Arg)
c.3761A>G (p.Gln1254Arg)
c.4115A>G (p.Gln1372Arg)
2g.25742402T>GCA346075158ASXL2c.3932A>C (p.Gln1311Pro)
c.3935A>C (p.Gln1312Pro)
c.3851A>C (p.Gln1284Pro)
c.2384A>C (p.Gln795Pro)
c.3569A>C (p.Gln1190Pro)
c.3155A>C (p.Gln1052Pro)
c.3761A>C (p.Gln1254Pro)
c.4115A>C (p.Gln1372Pro)
2g.25742403G>ACA346075169ASXL2c.3931C>T (p.Gln1311Ter)
c.3934C>T (p.Gln1312Ter)
c.3850C>T (p.Gln1284Ter)
c.2383C>T (p.Gln795Ter)
c.3568C>T (p.Gln1190Ter)
c.3154C>T (p.Gln1052Ter)
c.3760C>T (p.Gln1254Ter)
c.4114C>T (p.Gln1372Ter)
2g.25742403G>CCA346075167ASXL2c.3931C>G (p.Gln1311Glu)
c.3934C>G (p.Gln1312Glu)
c.3850C>G (p.Gln1284Glu)
c.2383C>G (p.Gln795Glu)
c.3568C>G (p.Gln1190Glu)
c.3154C>G (p.Gln1052Glu)
c.3760C>G (p.Gln1254Glu)
c.4114C>G (p.Gln1372Glu)
2g.25742403G>TCA346075173ASXL2c.3931C>A (p.Gln1311Lys)
c.3934C>A (p.Gln1312Lys)
c.3850C>A (p.Gln1284Lys)
c.2383C>A (p.Gln795Lys)
c.3568C>A (p.Gln1190Lys)
c.3154C>A (p.Gln1052Lys)
c.3760C>A (p.Gln1254Lys)
c.4114C>A (p.Gln1372Lys)
2g.25742404C>ACA425354789ASXL2c.3930G>T (p.Leu1310=)
c.3933G>T (p.Leu1311=)
c.3849G>T (p.Leu1283=)
c.2382G>T (p.Leu794=)
c.3567G>T (p.Leu1189=)
c.3153G>T (p.Leu1051=)
c.3759G>T (p.Leu1253=)
c.4113G>T (p.Leu1371=)
2g.25742404C=CA1239490446ASXL2c.3930G= (p.Leu1310=)
c.3933G= (p.Leu1311=)
c.3849G= (p.Leu1283=)
c.2382G= (p.Leu794=)
c.3567G= (p.Leu1189=)
c.3153G= (p.Leu1051=)
c.3759G= (p.Leu1253=)
c.4113G= (p.Leu1371=)
2g.25742404C>GCA425354793ASXL2c.3930G>C (p.Leu1310=)
c.3933G>C (p.Leu1311=)
c.3849G>C (p.Leu1283=)
c.2382G>C (p.Leu794=)
c.3567G>C (p.Leu1189=)
c.3153G>C (p.Leu1051=)
c.3759G>C (p.Leu1253=)
c.4113G>C (p.Leu1371=)
 dbSNP gnomAD v2
2g.25742404C>TCA425354794ASXL2c.3930G>A (p.Leu1310=)
c.3933G>A (p.Leu1311=)
c.3849G>A (p.Leu1283=)
c.2382G>A (p.Leu794=)
c.3567G>A (p.Leu1189=)
c.3153G>A (p.Leu1051=)
c.3759G>A (p.Leu1253=)
c.4113G>A (p.Leu1371=)
 gnomAD v4
2g.25742405A=CA1239490447ASXL2c.3929T= (p.Leu1310=)
c.3932T= (p.Leu1311=)
c.3848T= (p.Leu1283=)
c.2381T= (p.Leu794=)
c.3566T= (p.Leu1189=)
c.3152T= (p.Leu1051=)
c.3758T= (p.Leu1253=)
c.4112T= (p.Leu1371=)
2g.25742405A>CCA1557396ASXL2c.3929T>G (p.Leu1310Arg)
c.3932T>G (p.Leu1311Arg)
c.3848T>G (p.Leu1283Arg)
c.2381T>G (p.Leu794Arg)
c.3566T>G (p.Leu1189Arg)
c.3152T>G (p.Leu1051Arg)
c.3758T>G (p.Leu1253Arg)
c.4112T>G (p.Leu1371Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742405A>GCA346075177ASXL2c.3929T>C (p.Leu1310Pro)
c.3932T>C (p.Leu1311Pro)
c.3848T>C (p.Leu1283Pro)
c.2381T>C (p.Leu794Pro)
c.3566T>C (p.Leu1189Pro)
c.3152T>C (p.Leu1051Pro)
c.3758T>C (p.Leu1253Pro)
c.4112T>C (p.Leu1371Pro)
 dbSNP
2g.25742405A>TCA346075180ASXL2c.3929T>A (p.Leu1310Gln)
c.3932T>A (p.Leu1311Gln)
c.3848T>A (p.Leu1283Gln)
c.2381T>A (p.Leu794Gln)
c.3566T>A (p.Leu1189Gln)
c.3152T>A (p.Leu1051Gln)
c.3758T>A (p.Leu1253Gln)
c.4112T>A (p.Leu1371Gln)
2g.25742406G>ACA425354797ASXL2c.3928C>T (p.Leu1310=)
c.3931C>T (p.Leu1311=)
c.3847C>T (p.Leu1283=)
c.2380C>T (p.Leu794=)
c.3565C>T (p.Leu1189=)
c.3151C>T (p.Leu1051=)
c.3757C>T (p.Leu1253=)
c.4111C>T (p.Leu1371=)
 dbSNP gnomAD v4
2g.25742406G>CCA346075183ASXL2c.3928C>G (p.Leu1310Val)
c.3931C>G (p.Leu1311Val)
c.3847C>G (p.Leu1283Val)
c.2380C>G (p.Leu794Val)
c.3565C>G (p.Leu1189Val)
c.3151C>G (p.Leu1051Val)
c.3757C>G (p.Leu1253Val)
c.4111C>G (p.Leu1371Val)
2g.25742406G=CA1239490448ASXL2c.3928C= (p.Leu1310=)
c.3931C= (p.Leu1311=)
c.3847C= (p.Leu1283=)
c.2380C= (p.Leu794=)
c.3565C= (p.Leu1189=)
c.3151C= (p.Leu1051=)
c.3757C= (p.Leu1253=)
c.4111C= (p.Leu1371=)
2g.25742406G>TCA346075185ASXL2c.3928C>A (p.Leu1310Met)
c.3931C>A (p.Leu1311Met)
c.3847C>A (p.Leu1283Met)
c.2380C>A (p.Leu794Met)
c.3565C>A (p.Leu1189Met)
c.3151C>A (p.Leu1051Met)
c.3757C>A (p.Leu1253Met)
c.4111C>A (p.Leu1371Met)
2g.25742407G>ACA43734264ASXL2c.3927C>T (p.Pro1309=)
c.3930C>T (p.Pro1310=)
c.3846C>T (p.Pro1282=)
c.2379C>T (p.Pro793=)
c.3564C>T (p.Pro1188=)
c.3150C>T (p.Pro1050=)
c.3756C>T (p.Pro1252=)
c.4110C>T (p.Pro1370=)
 dbSNP
2g.25742407G>CCA425354800ASXL2c.3927C>G (p.Pro1309=)
c.3930C>G (p.Pro1310=)
c.3846C>G (p.Pro1282=)
c.2379C>G (p.Pro793=)
c.3564C>G (p.Pro1188=)
c.3150C>G (p.Pro1050=)
c.3756C>G (p.Pro1252=)
c.4110C>G (p.Pro1370=)
 gnomAD v4
2g.25742407G=CA1239490449ASXL2c.3927C= (p.Pro1309=)
c.3930C= (p.Pro1310=)
c.3846C= (p.Pro1282=)
c.2379C= (p.Pro793=)
c.3564C= (p.Pro1188=)
c.3150C= (p.Pro1050=)
c.3756C= (p.Pro1252=)
c.4110C= (p.Pro1370=)
2g.25742407G>TCA425354802ASXL2c.3927C>A (p.Pro1309=)
c.3930C>A (p.Pro1310=)
c.3846C>A (p.Pro1282=)
c.2379C>A (p.Pro793=)
c.3564C>A (p.Pro1188=)
c.3150C>A (p.Pro1050=)
c.3756C>A (p.Pro1252=)
c.4110C>A (p.Pro1370=)
2g.25742408G>ACA43734266ASXL2c.3926C>T (p.Pro1309Leu)
c.3929C>T (p.Pro1310Leu)
c.3845C>T (p.Pro1282Leu)
c.2378C>T (p.Pro793Leu)
c.3563C>T (p.Pro1188Leu)
c.3149C>T (p.Pro1050Leu)
c.3755C>T (p.Pro1252Leu)
c.4109C>T (p.Pro1370Leu)
 dbSNP COSMIC COSMIC
2g.25742408G>CCA346075195ASXL2c.3926C>G (p.Pro1309Arg)
c.3929C>G (p.Pro1310Arg)
c.3845C>G (p.Pro1282Arg)
c.2378C>G (p.Pro793Arg)
c.3563C>G (p.Pro1188Arg)
c.3149C>G (p.Pro1050Arg)
c.3755C>G (p.Pro1252Arg)
c.4109C>G (p.Pro1370Arg)
2g.25742408G=CA1239490450ASXL2c.3926C= (p.Pro1309=)
c.3929C= (p.Pro1310=)
c.3845C= (p.Pro1282=)
c.2378C= (p.Pro793=)
c.3563C= (p.Pro1188=)
c.3149C= (p.Pro1050=)
c.3755C= (p.Pro1252=)
c.4109C= (p.Pro1370=)
2g.25742408G>TCA346075197ASXL2c.3926C>A (p.Pro1309His)
c.3929C>A (p.Pro1310His)
c.3845C>A (p.Pro1282His)
c.2378C>A (p.Pro793His)
c.3563C>A (p.Pro1188His)
c.3149C>A (p.Pro1050His)
c.3755C>A (p.Pro1252His)
c.4109C>A (p.Pro1370His)
 gnomAD v4
2g.25742409G>ACA43734268ASXL2c.3925C>T (p.Pro1309Ser)
c.3928C>T (p.Pro1310Ser)
c.3844C>T (p.Pro1282Ser)
c.2377C>T (p.Pro793Ser)
c.3562C>T (p.Pro1188Ser)
c.3148C>T (p.Pro1050Ser)
c.3754C>T (p.Pro1252Ser)
c.4108C>T (p.Pro1370Ser)
 dbSNP
2g.25742409G>CCA346075202ASXL2c.3925C>G (p.Pro1309Ala)
c.3928C>G (p.Pro1310Ala)
c.3844C>G (p.Pro1282Ala)
c.2377C>G (p.Pro793Ala)
c.3562C>G (p.Pro1188Ala)
c.3148C>G (p.Pro1050Ala)
c.3754C>G (p.Pro1252Ala)
c.4108C>G (p.Pro1370Ala)
2g.25742409G=CA1239490451ASXL2c.3925C= (p.Pro1309=)
c.3928C= (p.Pro1310=)
c.3844C= (p.Pro1282=)
c.2377C= (p.Pro793=)
c.3562C= (p.Pro1188=)
c.3148C= (p.Pro1050=)
c.3754C= (p.Pro1252=)
c.4108C= (p.Pro1370=)
2g.25742409G>TCA346075205ASXL2c.3925C>A (p.Pro1309Thr)
c.3928C>A (p.Pro1310Thr)
c.3844C>A (p.Pro1282Thr)
c.2377C>A (p.Pro793Thr)
c.3562C>A (p.Pro1188Thr)
c.3148C>A (p.Pro1050Thr)
c.3754C>A (p.Pro1252Thr)
c.4108C>A (p.Pro1370Thr)
2g.25742410delCA2594414440ASXL2c.3924del (p.Leu1310CysfsTer13)
c.3927del (p.Leu1311CysfsTer13)
c.3843del (p.Leu1283CysfsTer13)
c.2376del (p.Leu794CysfsTer13)
c.3561del (p.Leu1189CysfsTer13)
c.3147del (p.Leu1051CysfsTer13)
c.3753del (p.Leu1253CysfsTer13)
c.4107del (p.Leu1371CysfsTer13)
 gnomAD v3 gnomAD v4
2g.25742410T>ACA425354811ASXL2c.3924A>T (p.Pro1308=)
c.3927A>T (p.Pro1309=)
c.3843A>T (p.Pro1281=)
c.2376A>T (p.Pro792=)
c.3561A>T (p.Pro1187=)
c.3147A>T (p.Pro1049=)
c.3753A>T (p.Pro1251=)
c.4107A>T (p.Pro1369=)
2g.25742410T>CCA425354813ASXL2c.3924A>G (p.Pro1308=)
c.3927A>G (p.Pro1309=)
c.3843A>G (p.Pro1281=)
c.2376A>G (p.Pro792=)
c.3561A>G (p.Pro1187=)
c.3147A>G (p.Pro1049=)
c.3753A>G (p.Pro1251=)
c.4107A>G (p.Pro1369=)
2g.25742410T>GCA425354815ASXL2c.3924A>C (p.Pro1308=)
c.3927A>C (p.Pro1309=)
c.3843A>C (p.Pro1281=)
c.2376A>C (p.Pro792=)
c.3561A>C (p.Pro1187=)
c.3147A>C (p.Pro1049=)
c.3753A>C (p.Pro1251=)
c.4107A>C (p.Pro1369=)
 dbSNP gnomAD v3 gnomAD v4
2g.25742410T=CA1239490452ASXL2c.3924A= (p.Pro1308=)
c.3927A= (p.Pro1309=)
c.3843A= (p.Pro1281=)
c.2376A= (p.Pro792=)
c.3561A= (p.Pro1187=)
c.3147A= (p.Pro1049=)
c.3753A= (p.Pro1251=)
c.4107A= (p.Pro1369=)
2g.25742411G>ACA346075212ASXL2c.3923C>T (p.Pro1308Leu)
c.3926C>T (p.Pro1309Leu)
c.3842C>T (p.Pro1281Leu)
c.2375C>T (p.Pro792Leu)
c.3560C>T (p.Pro1187Leu)
c.3146C>T (p.Pro1049Leu)
c.3752C>T (p.Pro1251Leu)
c.4106C>T (p.Pro1369Leu)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.25742411G>CCA346075208ASXL2c.3923C>G (p.Pro1308Arg)
c.3926C>G (p.Pro1309Arg)
c.3842C>G (p.Pro1281Arg)
c.2375C>G (p.Pro792Arg)
c.3560C>G (p.Pro1187Arg)
c.3146C>G (p.Pro1049Arg)
c.3752C>G (p.Pro1251Arg)
c.4106C>G (p.Pro1369Arg)
2g.25742411G=CA1239490453ASXL2c.3923C= (p.Pro1308=)
c.3926C= (p.Pro1309=)
c.3842C= (p.Pro1281=)
c.2375C= (p.Pro792=)
c.3560C= (p.Pro1187=)
c.3146C= (p.Pro1049=)
c.3752C= (p.Pro1251=)
c.4106C= (p.Pro1369=)
2g.25742411G>TCA346075210ASXL2c.3923C>A (p.Pro1308Gln)
c.3926C>A (p.Pro1309Gln)
c.3842C>A (p.Pro1281Gln)
c.2375C>A (p.Pro792Gln)
c.3560C>A (p.Pro1187Gln)
c.3146C>A (p.Pro1049Gln)
c.3752C>A (p.Pro1251Gln)
c.4106C>A (p.Pro1369Gln)
 gnomAD v4
2g.25742412G>ACA346075217ASXL2c.3922C>T (p.Pro1308Ser)
c.3925C>T (p.Pro1309Ser)
c.3841C>T (p.Pro1281Ser)
c.2374C>T (p.Pro792Ser)
c.3559C>T (p.Pro1187Ser)
c.3145C>T (p.Pro1049Ser)
c.3751C>T (p.Pro1251Ser)
c.4105C>T (p.Pro1369Ser)
2g.25742412G>CCA346075218ASXL2c.3922C>G (p.Pro1308Ala)
c.3925C>G (p.Pro1309Ala)
c.3841C>G (p.Pro1281Ala)
c.2374C>G (p.Pro792Ala)
c.3559C>G (p.Pro1187Ala)
c.3145C>G (p.Pro1049Ala)
c.3751C>G (p.Pro1251Ala)
c.4105C>G (p.Pro1369Ala)
2g.25742412G>TCA346075221ASXL2c.3922C>A (p.Pro1308Thr)
c.3925C>A (p.Pro1309Thr)
c.3841C>A (p.Pro1281Thr)
c.2374C>A (p.Pro792Thr)
c.3559C>A (p.Pro1187Thr)
c.3145C>A (p.Pro1049Thr)
c.3751C>A (p.Pro1251Thr)
c.4105C>A (p.Pro1369Thr)
 gnomAD v4
2g.25742413A>CCA425354826ASXL2c.3921T>G (p.Leu1307=)
c.3924T>G (p.Leu1308=)
c.3840T>G (p.Leu1280=)
c.2373T>G (p.Leu791=)
c.3558T>G (p.Leu1186=)
c.3144T>G (p.Leu1048=)
c.3750T>G (p.Leu1250=)
c.4104T>G (p.Leu1368=)
2g.25742413A>GCA425354828ASXL2c.3921T>C (p.Leu1307=)
c.3924T>C (p.Leu1308=)
c.3840T>C (p.Leu1280=)
c.2373T>C (p.Leu791=)
c.3558T>C (p.Leu1186=)
c.3144T>C (p.Leu1048=)
c.3750T>C (p.Leu1250=)
c.4104T>C (p.Leu1368=)
2g.25742413A>TCA425354823ASXL2c.3921T>A (p.Leu1307=)
c.3924T>A (p.Leu1308=)
c.3840T>A (p.Leu1280=)
c.2373T>A (p.Leu791=)
c.3558T>A (p.Leu1186=)
c.3144T>A (p.Leu1048=)
c.3750T>A (p.Leu1250=)
c.4104T>A (p.Leu1368=)
2g.25742413_25742414delCA2658189296ASXL2c.3920_3921del (p.Leu1307ProfsTer20)
c.3923_3924del (p.Leu1308ProfsTer20)
c.3839_3840del (p.Leu1280ProfsTer20)
c.2372_2373del (p.Leu791ProfsTer20)
c.3557_3558del (p.Leu1186ProfsTer20)
c.3143_3144del (p.Leu1048ProfsTer20)
c.3749_3750del (p.Leu1250ProfsTer20)
c.4103_4104del (p.Leu1368ProfsTer20)
 gnomAD v4
2g.25742413_25742416delinsAAGGCA1239490454ASXL2c.3918_3921delinsCCTT (p.Leu1306=)
c.3921_3924delinsCCTT (p.Leu1307=)
c.3837_3840delinsCCTT (p.Leu1279=)
c.2370_2373delinsCCTT (p.Leu790=)
c.3555_3558delinsCCTT (p.Leu1185=)
c.3141_3144delinsCCTT (p.Leu1047=)
c.3747_3750delinsCCTT (p.Leu1249=)
c.4101_4104delinsCCTT (p.Leu1367=)
2g.25742413_25742420delCA2594414441ASXL2c.3914_3921del (p.Leu1305ProfsTer20)
c.3917_3924del (p.Leu1306ProfsTer20)
c.3833_3840del (p.Leu1278ProfsTer20)
c.2366_2373del (p.Leu789ProfsTer20)
c.3551_3558del (p.Leu1184ProfsTer20)
c.3137_3144del (p.Leu1046ProfsTer20)
c.3743_3750del (p.Leu1248ProfsTer20)
c.4097_4104del (p.Leu1366ProfsTer20)
 gnomAD v3 gnomAD v4
2g.25742414A>CCA346075224ASXL2c.3920T>G (p.Leu1307Arg)
c.3923T>G (p.Leu1308Arg)
c.3839T>G (p.Leu1280Arg)
c.2372T>G (p.Leu791Arg)
c.3557T>G (p.Leu1186Arg)
c.3143T>G (p.Leu1048Arg)
c.3749T>G (p.Leu1250Arg)
c.4103T>G (p.Leu1368Arg)
2g.25742414A>GCA346075225ASXL2c.3920T>C (p.Leu1307Pro)
c.3923T>C (p.Leu1308Pro)
c.3839T>C (p.Leu1280Pro)
c.2372T>C (p.Leu791Pro)
c.3557T>C (p.Leu1186Pro)
c.3143T>C (p.Leu1048Pro)
c.3749T>C (p.Leu1250Pro)
c.4103T>C (p.Leu1368Pro)
 gnomAD v3 gnomAD v4
2g.25742414A>TCA346075227ASXL2c.3920T>A (p.Leu1307His)
c.3923T>A (p.Leu1308His)
c.3839T>A (p.Leu1280His)
c.2372T>A (p.Leu791His)
c.3557T>A (p.Leu1186His)
c.3143T>A (p.Leu1048His)
c.3749T>A (p.Leu1250His)
c.4103T>A (p.Leu1368His)
2g.25742416_25742418delCA1239490455ASXL2c.3918_3920del (p.Leu1307del)
c.3921_3923del (p.Leu1308del)
c.3837_3839del (p.Leu1280del)
c.2370_2372del (p.Leu791del)
c.3555_3557del (p.Leu1186del)
c.3141_3143del (p.Leu1048del)
c.3747_3749del (p.Leu1250del)
c.4101_4103del (p.Leu1368del)
 dbSNP
2g.25742415G>ACA43734270ASXL2c.3919C>T (p.Leu1307Phe)
c.3922C>T (p.Leu1308Phe)
c.3838C>T (p.Leu1280Phe)
c.2371C>T (p.Leu791Phe)
c.3556C>T (p.Leu1186Phe)
c.3142C>T (p.Leu1048Phe)
c.3748C>T (p.Leu1250Phe)
c.4102C>T (p.Leu1368Phe)
 dbSNP gnomAD v4
2g.25742415G>CCA346075229ASXL2c.3919C>G (p.Leu1307Val)
c.3922C>G (p.Leu1308Val)
c.3838C>G (p.Leu1280Val)
c.2371C>G (p.Leu791Val)
c.3556C>G (p.Leu1186Val)
c.3142C>G (p.Leu1048Val)
c.3748C>G (p.Leu1250Val)
c.4102C>G (p.Leu1368Val)
 dbSNP
2g.25742415G=CA1239490456ASXL2c.3919C= (p.Leu1307=)
c.3922C= (p.Leu1308=)
c.3838C= (p.Leu1280=)
c.2371C= (p.Leu791=)
c.3556C= (p.Leu1186=)
c.3142C= (p.Leu1048=)
c.3748C= (p.Leu1250=)
c.4102C= (p.Leu1368=)
2g.25742415G>TCA346075230ASXL2c.3919C>A (p.Leu1307Ile)
c.3922C>A (p.Leu1308Ile)
c.3838C>A (p.Leu1280Ile)
c.2371C>A (p.Leu791Ile)
c.3556C>A (p.Leu1186Ile)
c.3142C>A (p.Leu1048Ile)
c.3748C>A (p.Leu1250Ile)
c.4102C>A (p.Leu1368Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.25742416G>ACA425354841ASXL2c.3918C>T (p.Leu1306=)
c.3921C>T (p.Leu1307=)
c.3837C>T (p.Leu1279=)
c.2370C>T (p.Leu790=)
c.3555C>T (p.Leu1185=)
c.3141C>T (p.Leu1047=)
c.3747C>T (p.Leu1249=)
c.4101C>T (p.Leu1367=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742416G>CCA425354843ASXL2c.3918C>G (p.Leu1306=)
c.3921C>G (p.Leu1307=)
c.3837C>G (p.Leu1279=)
c.2370C>G (p.Leu790=)
c.3555C>G (p.Leu1185=)
c.3141C>G (p.Leu1047=)
c.3747C>G (p.Leu1249=)
c.4101C>G (p.Leu1367=)
 gnomAD v4
2g.25742416G=CA1239490457ASXL2c.3918C= (p.Leu1306=)
c.3921C= (p.Leu1307=)
c.3837C= (p.Leu1279=)
c.2370C= (p.Leu790=)
c.3555C= (p.Leu1185=)
c.3141C= (p.Leu1047=)
c.3747C= (p.Leu1249=)
c.4101C= (p.Leu1367=)
2g.25742416G>TCA425354847ASXL2c.3918C>A (p.Leu1306=)
c.3921C>A (p.Leu1307=)
c.3837C>A (p.Leu1279=)
c.2370C>A (p.Leu790=)
c.3555C>A (p.Leu1185=)
c.3141C>A (p.Leu1047=)
c.3747C>A (p.Leu1249=)
c.4101C>A (p.Leu1367=)
 gnomAD v4
2g.25742417A>CCA346075231ASXL2c.3917T>G (p.Leu1306Arg)
c.3920T>G (p.Leu1307Arg)
c.3836T>G (p.Leu1279Arg)
c.2369T>G (p.Leu790Arg)
c.3554T>G (p.Leu1185Arg)
c.3140T>G (p.Leu1047Arg)
c.3746T>G (p.Leu1249Arg)
c.4100T>G (p.Leu1367Arg)
2g.25742417A>GCA346075232ASXL2c.3917T>C (p.Leu1306Pro)
c.3920T>C (p.Leu1307Pro)
c.3836T>C (p.Leu1279Pro)
c.2369T>C (p.Leu790Pro)
c.3554T>C (p.Leu1185Pro)
c.3140T>C (p.Leu1047Pro)
c.3746T>C (p.Leu1249Pro)
c.4100T>C (p.Leu1367Pro)
2g.25742417A>TCA346075233ASXL2c.3917T>A (p.Leu1306His)
c.3920T>A (p.Leu1307His)
c.3836T>A (p.Leu1279His)
c.2369T>A (p.Leu790His)
c.3554T>A (p.Leu1185His)
c.3140T>A (p.Leu1047His)
c.3746T>A (p.Leu1249His)
c.4100T>A (p.Leu1367His)
2g.25742417_25742420delCA2658189297ASXL2c.3914_3917del (p.Leu1305ProfsTer17)
c.3917_3920del (p.Leu1306ProfsTer17)
c.3833_3836del (p.Leu1278ProfsTer17)
c.2366_2369del (p.Leu789ProfsTer17)
c.3551_3554del (p.Leu1184ProfsTer17)
c.3137_3140del (p.Leu1046ProfsTer17)
c.3743_3746del (p.Leu1248ProfsTer17)
c.4097_4100del (p.Leu1366ProfsTer17)
 gnomAD v4
2g.25742418G>ACA346075239ASXL2c.3916C>T (p.Leu1306Phe)
c.3919C>T (p.Leu1307Phe)
c.3835C>T (p.Leu1279Phe)
c.2368C>T (p.Leu790Phe)
c.3553C>T (p.Leu1185Phe)
c.3139C>T (p.Leu1047Phe)
c.3745C>T (p.Leu1249Phe)
c.4099C>T (p.Leu1367Phe)
2g.25742418G>CCA346075238ASXL2c.3916C>G (p.Leu1306Val)
c.3919C>G (p.Leu1307Val)
c.3835C>G (p.Leu1279Val)
c.2368C>G (p.Leu790Val)
c.3553C>G (p.Leu1185Val)
c.3139C>G (p.Leu1047Val)
c.3745C>G (p.Leu1249Val)
c.4099C>G (p.Leu1367Val)
 gnomAD v4
2g.25742418G>TCA346075235ASXL2c.3916C>A (p.Leu1306Ile)
c.3919C>A (p.Leu1307Ile)
c.3835C>A (p.Leu1279Ile)
c.2368C>A (p.Leu790Ile)
c.3553C>A (p.Leu1185Ile)
c.3139C>A (p.Leu1047Ile)
c.3745C>A (p.Leu1249Ile)
c.4099C>A (p.Leu1367Ile)
 gnomAD v4
2g.25742419T>ACA425354853ASXL2c.3915A>T (p.Leu1305=)
c.3918A>T (p.Leu1306=)
c.3834A>T (p.Leu1278=)
c.2367A>T (p.Leu789=)
c.3552A>T (p.Leu1184=)
c.3138A>T (p.Leu1046=)
c.3744A>T (p.Leu1248=)
c.4098A>T (p.Leu1366=)
2g.25742419T>CCA425354852ASXL2c.3915A>G (p.Leu1305=)
c.3918A>G (p.Leu1306=)
c.3834A>G (p.Leu1278=)
c.2367A>G (p.Leu789=)
c.3552A>G (p.Leu1184=)
c.3138A>G (p.Leu1046=)
c.3744A>G (p.Leu1248=)
c.4098A>G (p.Leu1366=)
2g.25742419T>GCA1557397ASXL2c.3915A>C (p.Leu1305=)
c.3918A>C (p.Leu1306=)
c.3834A>C (p.Leu1278=)
c.2367A>C (p.Leu789=)
c.3552A>C (p.Leu1184=)
c.3138A>C (p.Leu1046=)
c.3744A>C (p.Leu1248=)
c.4098A>C (p.Leu1366=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742419T=CA1239490458ASXL2c.3915A= (p.Leu1305=)
c.3918A= (p.Leu1306=)
c.3834A= (p.Leu1278=)
c.2367A= (p.Leu789=)
c.3552A= (p.Leu1184=)
c.3138A= (p.Leu1046=)
c.3744A= (p.Leu1248=)
c.4098A= (p.Leu1366=)
2g.25742420A=CA1239490459ASXL2c.3914T= (p.Leu1305=)
c.3917T= (p.Leu1306=)
c.3833T= (p.Leu1278=)
c.2366T= (p.Leu789=)
c.3551T= (p.Leu1184=)
c.3137T= (p.Leu1046=)
c.3743T= (p.Leu1248=)
c.4097T= (p.Leu1366=)
2g.25742420A>CCA346075243ASXL2c.3914T>G (p.Leu1305Arg)
c.3917T>G (p.Leu1306Arg)
c.3833T>G (p.Leu1278Arg)
c.2366T>G (p.Leu789Arg)
c.3551T>G (p.Leu1184Arg)
c.3137T>G (p.Leu1046Arg)
c.3743T>G (p.Leu1248Arg)
c.4097T>G (p.Leu1366Arg)
2g.25742420A>GCA346075245ASXL2c.3914T>C (p.Leu1305Pro)
c.3917T>C (p.Leu1306Pro)
c.3833T>C (p.Leu1278Pro)
c.2366T>C (p.Leu789Pro)
c.3551T>C (p.Leu1184Pro)
c.3137T>C (p.Leu1046Pro)
c.3743T>C (p.Leu1248Pro)
c.4097T>C (p.Leu1366Pro)
 dbSNP
2g.25742420A>TCA346075248ASXL2c.3914T>A (p.Leu1305Gln)
c.3917T>A (p.Leu1306Gln)
c.3833T>A (p.Leu1278Gln)
c.2366T>A (p.Leu789Gln)
c.3551T>A (p.Leu1184Gln)
c.3137T>A (p.Leu1046Gln)
c.3743T>A (p.Leu1248Gln)
c.4097T>A (p.Leu1366Gln)
2g.25742421G>ACA43734274ASXL2c.3913C>T (p.Leu1305=)
c.3916C>T (p.Leu1306=)
c.3832C>T (p.Leu1278=)
c.2365C>T (p.Leu789=)
c.3550C>T (p.Leu1184=)
c.3136C>T (p.Leu1046=)
c.3742C>T (p.Leu1248=)
c.4096C>T (p.Leu1366=)
 dbSNP
2g.25742421G>CCA346075253ASXL2c.3913C>G (p.Leu1305Val)
c.3916C>G (p.Leu1306Val)
c.3832C>G (p.Leu1278Val)
c.2365C>G (p.Leu789Val)
c.3550C>G (p.Leu1184Val)
c.3136C>G (p.Leu1046Val)
c.3742C>G (p.Leu1248Val)
c.4096C>G (p.Leu1366Val)
2g.25742421G=CA1239490460ASXL2c.3913C= (p.Leu1305=)
c.3916C= (p.Leu1306=)
c.3832C= (p.Leu1278=)
c.2365C= (p.Leu789=)
c.3550C= (p.Leu1184=)
c.3136C= (p.Leu1046=)
c.3742C= (p.Leu1248=)
c.4096C= (p.Leu1366=)
2g.25742421G>TCA346075256ASXL2c.3913C>A (p.Leu1305Ile)
c.3916C>A (p.Leu1306Ile)
c.3832C>A (p.Leu1278Ile)
c.2365C>A (p.Leu789Ile)
c.3550C>A (p.Leu1184Ile)
c.3136C>A (p.Leu1046Ile)
c.3742C>A (p.Leu1248Ile)
c.4096C>A (p.Leu1366Ile)
 gnomAD v4
2g.25742428_25742440delCA2658189298ASXL2c.3901_3913del (p.Thr1301TyrfsTer18)
c.3904_3916del (p.Thr1302TyrfsTer18)
c.3820_3832del (p.Thr1274TyrfsTer18)
c.2353_2365del (p.Thr785TyrfsTer18)
c.3538_3550del (p.Thr1180TyrfsTer18)
c.3124_3136del (p.Thr1042TyrfsTer18)
c.3730_3742del (p.Thr1244TyrfsTer18)
c.4084_4096del (p.Thr1362TyrfsTer18)
 gnomAD v4
2g.25742422G>ACA425354859ASXL2c.3912C>T (p.Pro1304=)
c.3915C>T (p.Pro1305=)
c.3831C>T (p.Pro1277=)
c.2364C>T (p.Pro788=)
c.3549C>T (p.Pro1183=)
c.3135C>T (p.Pro1045=)
c.3741C>T (p.Pro1247=)
c.4095C>T (p.Pro1365=)
 gnomAD v4
2g.25742422G>CCA425354860ASXL2c.3912C>G (p.Pro1304=)
c.3915C>G (p.Pro1305=)
c.3831C>G (p.Pro1277=)
c.2364C>G (p.Pro788=)
c.3549C>G (p.Pro1183=)
c.3135C>G (p.Pro1045=)
c.3741C>G (p.Pro1247=)
c.4095C>G (p.Pro1365=)
2g.25742422G>TCA425354861ASXL2c.3912C>A (p.Pro1304=)
c.3915C>A (p.Pro1305=)
c.3831C>A (p.Pro1277=)
c.2364C>A (p.Pro788=)
c.3549C>A (p.Pro1183=)
c.3135C>A (p.Pro1045=)
c.3741C>A (p.Pro1247=)
c.4095C>A (p.Pro1365=)
2g.25742423G>ACA43734277ASXL2c.3911C>T (p.Pro1304Leu)
c.3914C>T (p.Pro1305Leu)
c.3830C>T (p.Pro1277Leu)
c.2363C>T (p.Pro788Leu)
c.3548C>T (p.Pro1183Leu)
c.3134C>T (p.Pro1045Leu)
c.3740C>T (p.Pro1247Leu)
c.4094C>T (p.Pro1365Leu)
 dbSNP
2g.25742423G>CCA346075259ASXL2c.3911C>G (p.Pro1304Arg)
c.3914C>G (p.Pro1305Arg)
c.3830C>G (p.Pro1277Arg)
c.2363C>G (p.Pro788Arg)
c.3548C>G (p.Pro1183Arg)
c.3134C>G (p.Pro1045Arg)
c.3740C>G (p.Pro1247Arg)
c.4094C>G (p.Pro1365Arg)
2g.25742423G=CA1239490461ASXL2c.3911C= (p.Pro1304=)
c.3914C= (p.Pro1305=)
c.3830C= (p.Pro1277=)
c.2363C= (p.Pro788=)
c.3548C= (p.Pro1183=)
c.3134C= (p.Pro1045=)
c.3740C= (p.Pro1247=)
c.4094C= (p.Pro1365=)
2g.25742423G>TCA346075261ASXL2c.3911C>A (p.Pro1304His)
c.3914C>A (p.Pro1305His)
c.3830C>A (p.Pro1277His)
c.2363C>A (p.Pro788His)
c.3548C>A (p.Pro1183His)
c.3134C>A (p.Pro1045His)
c.3740C>A (p.Pro1247His)
c.4094C>A (p.Pro1365His)
 gnomAD v4
2g.25742424G>ACA346075266ASXL2c.3910C>T (p.Pro1304Ser)
c.3913C>T (p.Pro1305Ser)
c.3829C>T (p.Pro1277Ser)
c.2362C>T (p.Pro788Ser)
c.3547C>T (p.Pro1183Ser)
c.3133C>T (p.Pro1045Ser)
c.3739C>T (p.Pro1247Ser)
c.4093C>T (p.Pro1365Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.25742424G>CCA346075268ASXL2c.3910C>G (p.Pro1304Ala)
c.3913C>G (p.Pro1305Ala)
c.3829C>G (p.Pro1277Ala)
c.2362C>G (p.Pro788Ala)
c.3547C>G (p.Pro1183Ala)
c.3133C>G (p.Pro1045Ala)
c.3739C>G (p.Pro1247Ala)
c.4093C>G (p.Pro1365Ala)
2g.25742424G=CA1239490462ASXL2c.3910C= (p.Pro1304=)
c.3913C= (p.Pro1305=)
c.3829C= (p.Pro1277=)
c.2362C= (p.Pro788=)
c.3547C= (p.Pro1183=)
c.3133C= (p.Pro1045=)
c.3739C= (p.Pro1247=)
c.4093C= (p.Pro1365=)
2g.25742424G>TCA346075271ASXL2c.3910C>A (p.Pro1304Thr)
c.3913C>A (p.Pro1305Thr)
c.3829C>A (p.Pro1277Thr)
c.2362C>A (p.Pro788Thr)
c.3547C>A (p.Pro1183Thr)
c.3133C>A (p.Pro1045Thr)
c.3739C>A (p.Pro1247Thr)
c.4093C>A (p.Pro1365Thr)
 gnomAD v4
2g.25742425C>ACA1557398ASXL2c.3909G>T (p.Gln1303His)
c.3912G>T (p.Gln1304His)
c.3828G>T (p.Gln1276His)
c.2361G>T (p.Gln787His)
c.3546G>T (p.Gln1182His)
c.3132G>T (p.Gln1044His)
c.3738G>T (p.Gln1246His)
c.4092G>T (p.Gln1364His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742425C=CA1239490463ASXL2c.3909G= (p.Gln1303=)
c.3912G= (p.Gln1304=)
c.3828G= (p.Gln1276=)
c.2361G= (p.Gln787=)
c.3546G= (p.Gln1182=)
c.3132G= (p.Gln1044=)
c.3738G= (p.Gln1246=)
c.4092G= (p.Gln1364=)
2g.25742425C>GCA346075276ASXL2c.3909G>C (p.Gln1303His)
c.3912G>C (p.Gln1304His)
c.3828G>C (p.Gln1276His)
c.2361G>C (p.Gln787His)
c.3546G>C (p.Gln1182His)
c.3132G>C (p.Gln1044His)
c.3738G>C (p.Gln1246His)
c.4092G>C (p.Gln1364His)
 gnomAD v4
2g.25742425C>TCA425354871ASXL2c.3909G>A (p.Gln1303=)
c.3912G>A (p.Gln1304=)
c.3828G>A (p.Gln1276=)
c.2361G>A (p.Gln787=)
c.3546G>A (p.Gln1182=)
c.3132G>A (p.Gln1044=)
c.3738G>A (p.Gln1246=)
c.4092G>A (p.Gln1364=)
 gnomAD v3 gnomAD v4
2g.25742425_25742426delCA2658189299ASXL2c.3908_3909del (p.Gln1303ProfsTer24)
c.3911_3912del (p.Gln1304ProfsTer24)
c.3827_3828del (p.Gln1276ProfsTer24)
c.2360_2361del (p.Gln787ProfsTer24)
c.3545_3546del (p.Gln1182ProfsTer24)
c.3131_3132del (p.Gln1044ProfsTer24)
c.3737_3738del (p.Gln1246ProfsTer24)
c.4091_4092del (p.Gln1364ProfsTer24)
 gnomAD v4
2g.25742425_25742429delCA2594414443ASXL2c.3905_3909del (p.His1302ProfsTer24)
c.3908_3912del (p.His1303ProfsTer24)
c.3824_3828del (p.His1275ProfsTer24)
c.2357_2361del (p.His786ProfsTer24)
c.3542_3546del (p.His1181ProfsTer24)
c.3128_3132del (p.His1043ProfsTer24)
c.3734_3738del (p.His1245ProfsTer24)
c.4088_4092del (p.His1363ProfsTer24)
 gnomAD v3 gnomAD v4
2g.25742426T>ACA346075279ASXL2c.3908A>T (p.Gln1303Leu)
c.3911A>T (p.Gln1304Leu)
c.3827A>T (p.Gln1276Leu)
c.2360A>T (p.Gln787Leu)
c.3545A>T (p.Gln1182Leu)
c.3131A>T (p.Gln1044Leu)
c.3737A>T (p.Gln1246Leu)
c.4091A>T (p.Gln1364Leu)
2g.25742426T>CCA346075282ASXL2c.3908A>G (p.Gln1303Arg)
c.3911A>G (p.Gln1304Arg)
c.3827A>G (p.Gln1276Arg)
c.2360A>G (p.Gln787Arg)
c.3545A>G (p.Gln1182Arg)
c.3131A>G (p.Gln1044Arg)
c.3737A>G (p.Gln1246Arg)
c.4091A>G (p.Gln1364Arg)
2g.25742426T>GCA346075281ASXL2c.3908A>C (p.Gln1303Pro)
c.3911A>C (p.Gln1304Pro)
c.3827A>C (p.Gln1276Pro)
c.2360A>C (p.Gln787Pro)
c.3545A>C (p.Gln1182Pro)
c.3131A>C (p.Gln1044Pro)
c.3737A>C (p.Gln1246Pro)
c.4091A>C (p.Gln1364Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.25742426T=CA1239490464ASXL2c.3908A= (p.Gln1303=)
c.3911A= (p.Gln1304=)
c.3827A= (p.Gln1276=)
c.2360A= (p.Gln787=)
c.3545A= (p.Gln1182=)
c.3131A= (p.Gln1044=)
c.3737A= (p.Gln1246=)
c.4091A= (p.Gln1364=)
2g.25742427G>ACA346075286ASXL2c.3907C>T (p.Gln1303Ter)
c.3910C>T (p.Gln1304Ter)
c.3826C>T (p.Gln1276Ter)
c.2359C>T (p.Gln787Ter)
c.3544C>T (p.Gln1182Ter)
c.3130C>T (p.Gln1044Ter)
c.3736C>T (p.Gln1246Ter)
c.4090C>T (p.Gln1364Ter)
2g.25742427G>CCA346075288ASXL2c.3907C>G (p.Gln1303Glu)
c.3910C>G (p.Gln1304Glu)
c.3826C>G (p.Gln1276Glu)
c.2359C>G (p.Gln787Glu)
c.3544C>G (p.Gln1182Glu)
c.3130C>G (p.Gln1044Glu)
c.3736C>G (p.Gln1246Glu)
c.4090C>G (p.Gln1364Glu)
2g.25742427G>TCA346075292ASXL2c.3907C>A (p.Gln1303Lys)
c.3910C>A (p.Gln1304Lys)
c.3826C>A (p.Gln1276Lys)
c.2359C>A (p.Gln787Lys)
c.3544C>A (p.Gln1182Lys)
c.3130C>A (p.Gln1044Lys)
c.3736C>A (p.Gln1246Lys)
c.4090C>A (p.Gln1364Lys)
 gnomAD v4
2g.25742428delCA2658189300ASXL2c.3907del (p.Gln1303SerfsTer20)
c.3910del (p.Gln1304SerfsTer20)
c.3826del (p.Gln1276SerfsTer20)
c.2359del (p.Gln787SerfsTer20)
c.3544del (p.Gln1182SerfsTer20)
c.3130del (p.Gln1044SerfsTer20)
c.3736del (p.Gln1246SerfsTer20)
c.4090del (p.Gln1364SerfsTer20)
 gnomAD v4
2g.25742433_25742436delCA2658189301ASXL2c.3904_3907del (p.His1302SerfsTer20)
c.3907_3910del (p.His1303SerfsTer20)
c.3823_3826del (p.His1275SerfsTer20)
c.2356_2359del (p.His786SerfsTer20)
c.3541_3544del (p.His1181SerfsTer20)
c.3127_3130del (p.His1043SerfsTer20)
c.3733_3736del (p.His1245SerfsTer20)
c.4087_4090del (p.His1363SerfsTer20)
 gnomAD v4
2g.25742428G>ACA1557399ASXL2c.3906C>T (p.His1302=)
c.3909C>T (p.His1303=)
c.3825C>T (p.His1275=)
c.2358C>T (p.His786=)
c.3543C>T (p.His1181=)
c.3129C>T (p.His1043=)
c.3735C>T (p.His1245=)
c.4089C>T (p.His1363=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742428G>CCA346075297ASXL2c.3906C>G (p.His1302Gln)
c.3909C>G (p.His1303Gln)
c.3825C>G (p.His1275Gln)
c.2358C>G (p.His786Gln)
c.3543C>G (p.His1181Gln)
c.3129C>G (p.His1043Gln)
c.3735C>G (p.His1245Gln)
c.4089C>G (p.His1363Gln)
2g.25742428G=CA1239490465ASXL2c.3906C= (p.His1302=)
c.3909C= (p.His1303=)
c.3825C= (p.His1275=)
c.2358C= (p.His786=)
c.3543C= (p.His1181=)
c.3129C= (p.His1043=)
c.3735C= (p.His1245=)
c.4089C= (p.His1363=)
2g.25742428G>TCA346075300ASXL2c.3906C>A (p.His1302Gln)
c.3909C>A (p.His1303Gln)
c.3825C>A (p.His1275Gln)
c.2358C>A (p.His786Gln)
c.3543C>A (p.His1181Gln)
c.3129C>A (p.His1043Gln)
c.3735C>A (p.His1245Gln)
c.4089C>A (p.His1363Gln)
 gnomAD v4
2g.25742429T>ACA346075303ASXL2c.3905A>T (p.His1302Leu)
c.3908A>T (p.His1303Leu)
c.3824A>T (p.His1275Leu)
c.2357A>T (p.His786Leu)
c.3542A>T (p.His1181Leu)
c.3128A>T (p.His1043Leu)
c.3734A>T (p.His1245Leu)
c.4088A>T (p.His1363Leu)
2g.25742429T>CCA346075304ASXL2c.3905A>G (p.His1302Arg)
c.3908A>G (p.His1303Arg)
c.3824A>G (p.His1275Arg)
c.2357A>G (p.His786Arg)
c.3542A>G (p.His1181Arg)
c.3128A>G (p.His1043Arg)
c.3734A>G (p.His1245Arg)
c.4088A>G (p.His1363Arg)
 gnomAD v4
2g.25742429T>GCA346075306ASXL2c.3905A>C (p.His1302Pro)
c.3908A>C (p.His1303Pro)
c.3824A>C (p.His1275Pro)
c.2357A>C (p.His786Pro)
c.3542A>C (p.His1181Pro)
c.3128A>C (p.His1043Pro)
c.3734A>C (p.His1245Pro)
c.4088A>C (p.His1363Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742429T=CA1239490466ASXL2c.3905A= (p.His1302=)
c.3908A= (p.His1303=)
c.3824A= (p.His1275=)
c.2357A= (p.His786=)
c.3542A= (p.His1181=)
c.3128A= (p.His1043=)
c.3734A= (p.His1245=)
c.4088A= (p.His1363=)
2g.25742430G>ACA346075311ASXL2c.3904C>T (p.His1302Tyr)
c.3907C>T (p.His1303Tyr)
c.3823C>T (p.His1275Tyr)
c.2356C>T (p.His786Tyr)
c.3541C>T (p.His1181Tyr)
c.3127C>T (p.His1043Tyr)
c.3733C>T (p.His1245Tyr)
c.4087C>T (p.His1363Tyr)
 gnomAD v4
2g.25742430G>CCA346075313ASXL2c.3904C>G (p.His1302Asp)
c.3907C>G (p.His1303Asp)
c.3823C>G (p.His1275Asp)
c.2356C>G (p.His786Asp)
c.3541C>G (p.His1181Asp)
c.3127C>G (p.His1043Asp)
c.3733C>G (p.His1245Asp)
c.4087C>G (p.His1363Asp)
2g.25742430G>TCA346075315ASXL2c.3904C>A (p.His1302Asn)
c.3907C>A (p.His1303Asn)
c.3823C>A (p.His1275Asn)
c.2356C>A (p.His786Asn)
c.3541C>A (p.His1181Asn)
c.3127C>A (p.His1043Asn)
c.3733C>A (p.His1245Asn)
c.4087C>A (p.His1363Asn)
 gnomAD v4
2g.25742432delCA2658189302ASXL2c.3904del (p.His1302ThrfsTer21)
c.3907del (p.His1303ThrfsTer21)
c.3823del (p.His1275ThrfsTer21)
c.2356del (p.His786ThrfsTer21)
c.3541del (p.His1181ThrfsTer21)
c.3127del (p.His1043ThrfsTer21)
c.3733del (p.His1245ThrfsTer21)
c.4087del (p.His1363ThrfsTer21)
 gnomAD v4
2g.25742431G>ACA425354889ASXL2c.3903C>T (p.Thr1301=)
c.3906C>T (p.Thr1302=)
c.3822C>T (p.Thr1274=)
c.2355C>T (p.Thr785=)
c.3540C>T (p.Thr1180=)
c.3126C>T (p.Thr1042=)
c.3732C>T (p.Thr1244=)
c.4086C>T (p.Thr1362=)
 gnomAD v4
2g.25742431G>CCA425354890ASXL2c.3903C>G (p.Thr1301=)
c.3906C>G (p.Thr1302=)
c.3822C>G (p.Thr1274=)
c.2355C>G (p.Thr785=)
c.3540C>G (p.Thr1180=)
c.3126C>G (p.Thr1042=)
c.3732C>G (p.Thr1244=)
c.4086C>G (p.Thr1362=)
 gnomAD v4
2g.25742431G=CA1239490467ASXL2c.3903C= (p.Thr1301=)
c.3906C= (p.Thr1302=)
c.3822C= (p.Thr1274=)
c.2355C= (p.Thr785=)
c.3540C= (p.Thr1180=)
c.3126C= (p.Thr1042=)
c.3732C= (p.Thr1244=)
c.4086C= (p.Thr1362=)
2g.25742431G>TCA425354891ASXL2c.3903C>A (p.Thr1301=)
c.3906C>A (p.Thr1302=)
c.3822C>A (p.Thr1274=)
c.2355C>A (p.Thr785=)
c.3540C>A (p.Thr1180=)
c.3126C>A (p.Thr1042=)
c.3732C>A (p.Thr1244=)
c.4086C>A (p.Thr1362=)
 dbSNP gnomAD v4
2g.25742432G>ACA346075322ASXL2c.3902C>T (p.Thr1301Ile)
c.3905C>T (p.Thr1302Ile)
c.3821C>T (p.Thr1274Ile)
c.2354C>T (p.Thr785Ile)
c.3539C>T (p.Thr1180Ile)
c.3125C>T (p.Thr1042Ile)
c.3731C>T (p.Thr1244Ile)
c.4085C>T (p.Thr1362Ile)
2g.25742432G>CCA346075324ASXL2c.3902C>G (p.Thr1301Ser)
c.3905C>G (p.Thr1302Ser)
c.3821C>G (p.Thr1274Ser)
c.2354C>G (p.Thr785Ser)
c.3539C>G (p.Thr1180Ser)
c.3125C>G (p.Thr1042Ser)
c.3731C>G (p.Thr1244Ser)
c.4085C>G (p.Thr1362Ser)
2g.25742432G>TCA346075318ASXL2c.3902C>A (p.Thr1301Asn)
c.3905C>A (p.Thr1302Asn)
c.3821C>A (p.Thr1274Asn)
c.2354C>A (p.Thr785Asn)
c.3539C>A (p.Thr1180Asn)
c.3125C>A (p.Thr1042Asn)
c.3731C>A (p.Thr1244Asn)
c.4085C>A (p.Thr1362Asn)
 gnomAD v4
2g.25742433T>ACA346075326ASXL2c.3901A>T (p.Thr1301Ser)
c.3904A>T (p.Thr1302Ser)
c.3820A>T (p.Thr1274Ser)
c.2353A>T (p.Thr785Ser)
c.3538A>T (p.Thr1180Ser)
c.3124A>T (p.Thr1042Ser)
c.3730A>T (p.Thr1244Ser)
c.4084A>T (p.Thr1362Ser)
2g.25742433T>CCA346075329ASXL2c.3901A>G (p.Thr1301Ala)
c.3904A>G (p.Thr1302Ala)
c.3820A>G (p.Thr1274Ala)
c.2353A>G (p.Thr785Ala)
c.3538A>G (p.Thr1180Ala)
c.3124A>G (p.Thr1042Ala)
c.3730A>G (p.Thr1244Ala)
c.4084A>G (p.Thr1362Ala)
 ClinVar gnomAD v4
2g.25742433T>GCA1557400ASXL2c.3901A>C (p.Thr1301Pro)
c.3904A>C (p.Thr1302Pro)
c.3820A>C (p.Thr1274Pro)
c.2353A>C (p.Thr785Pro)
c.3538A>C (p.Thr1180Pro)
c.3124A>C (p.Thr1042Pro)
c.3730A>C (p.Thr1244Pro)
c.4084A>C (p.Thr1362Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742433T=CA1239490468ASXL2c.3901A= (p.Thr1301=)
c.3904A= (p.Thr1302=)
c.3820A= (p.Thr1274=)
c.2353A= (p.Thr785=)
c.3538A= (p.Thr1180=)
c.3124A= (p.Thr1042=)
c.3730A= (p.Thr1244=)
c.4084A= (p.Thr1362=)
2g.25742434G>ACA425354902ASXL2c.3900C>T (p.Pro1300=)
c.3903C>T (p.Pro1301=)
c.3819C>T (p.Pro1273=)
c.2352C>T (p.Pro784=)
c.3537C>T (p.Pro1179=)
c.3123C>T (p.Pro1041=)
c.3729C>T (p.Pro1243=)
c.4083C>T (p.Pro1361=)
 dbSNP gnomAD v2 gnomAD v4
2g.25742434G>CCA425354906ASXL2c.3900C>G (p.Pro1300=)
c.3903C>G (p.Pro1301=)
c.3819C>G (p.Pro1273=)
c.2352C>G (p.Pro784=)
c.3537C>G (p.Pro1179=)
c.3123C>G (p.Pro1041=)
c.3729C>G (p.Pro1243=)
c.4083C>G (p.Pro1361=)
2g.25742434G=CA1239490469ASXL2c.3900C= (p.Pro1300=)
c.3903C= (p.Pro1301=)
c.3819C= (p.Pro1273=)
c.2352C= (p.Pro784=)
c.3537C= (p.Pro1179=)
c.3123C= (p.Pro1041=)
c.3729C= (p.Pro1243=)
c.4083C= (p.Pro1361=)
2g.25742434G>TCA425354907ASXL2c.3900C>A (p.Pro1300=)
c.3903C>A (p.Pro1301=)
c.3819C>A (p.Pro1273=)
c.2352C>A (p.Pro784=)
c.3537C>A (p.Pro1179=)
c.3123C>A (p.Pro1041=)
c.3729C>A (p.Pro1243=)
c.4083C>A (p.Pro1361=)
2g.25742435G>ACA43734282ASXL2c.3899C>T (p.Pro1300Leu)
c.3902C>T (p.Pro1301Leu)
c.3818C>T (p.Pro1273Leu)
c.2351C>T (p.Pro784Leu)
c.3536C>T (p.Pro1179Leu)
c.3122C>T (p.Pro1041Leu)
c.3728C>T (p.Pro1243Leu)
c.4082C>T (p.Pro1361Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.25742435G>CCA346075335ASXL2c.3899C>G (p.Pro1300Arg)
c.3902C>G (p.Pro1301Arg)
c.3818C>G (p.Pro1273Arg)
c.2351C>G (p.Pro784Arg)
c.3536C>G (p.Pro1179Arg)
c.3122C>G (p.Pro1041Arg)
c.3728C>G (p.Pro1243Arg)
c.4082C>G (p.Pro1361Arg)
2g.25742435G=CA1239490470ASXL2c.3899C= (p.Pro1300=)
c.3902C= (p.Pro1301=)
c.3818C= (p.Pro1273=)
c.2351C= (p.Pro784=)
c.3536C= (p.Pro1179=)
c.3122C= (p.Pro1041=)
c.3728C= (p.Pro1243=)
c.4082C= (p.Pro1361=)
2g.25742435G>TCA346075338ASXL2c.3899C>A (p.Pro1300His)
c.3902C>A (p.Pro1301His)
c.3818C>A (p.Pro1273His)
c.2351C>A (p.Pro784His)
c.3536C>A (p.Pro1179His)
c.3122C>A (p.Pro1041His)
c.3728C>A (p.Pro1243His)
c.4082C>A (p.Pro1361His)
 gnomAD v4
2g.25742436G>ACA43734285ASXL2c.3898C>T (p.Pro1300Ser)
c.3901C>T (p.Pro1301Ser)
c.3817C>T (p.Pro1273Ser)
c.2350C>T (p.Pro784Ser)
c.3535C>T (p.Pro1179Ser)
c.3121C>T (p.Pro1041Ser)
c.3727C>T (p.Pro1243Ser)
c.4081C>T (p.Pro1361Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742436G>CCA346075341ASXL2c.3898C>G (p.Pro1300Ala)
c.3901C>G (p.Pro1301Ala)
c.3817C>G (p.Pro1273Ala)
c.2350C>G (p.Pro784Ala)
c.3535C>G (p.Pro1179Ala)
c.3121C>G (p.Pro1041Ala)
c.3727C>G (p.Pro1243Ala)
c.4081C>G (p.Pro1361Ala)
 gnomAD v4
2g.25742436G=CA1239490471ASXL2c.3898C= (p.Pro1300=)
c.3901C= (p.Pro1301=)
c.3817C= (p.Pro1273=)
c.2350C= (p.Pro784=)
c.3535C= (p.Pro1179=)
c.3121C= (p.Pro1041=)
c.3727C= (p.Pro1243=)
c.4081C= (p.Pro1361=)
2g.25742436G>TCA1557401ASXL2c.3898C>A (p.Pro1300Thr)
c.3901C>A (p.Pro1301Thr)
c.3817C>A (p.Pro1273Thr)
c.2350C>A (p.Pro784Thr)
c.3535C>A (p.Pro1179Thr)
c.3121C>A (p.Pro1041Thr)
c.3727C>A (p.Pro1243Thr)
c.4081C>A (p.Pro1361Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742437G>ACA1557402ASXL2c.3897C>T (p.Ser1299=)
c.3900C>T (p.Ser1300=)
c.3816C>T (p.Ser1272=)
c.2349C>T (p.Ser783=)
c.3534C>T (p.Ser1178=)
c.3120C>T (p.Ser1040=)
c.3726C>T (p.Ser1242=)
c.4080C>T (p.Ser1360=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742437G>CCA346075356ASXL2c.3897C>G (p.Ser1299Arg)
c.3900C>G (p.Ser1300Arg)
c.3816C>G (p.Ser1272Arg)
c.2349C>G (p.Ser783Arg)
c.3534C>G (p.Ser1178Arg)
c.3120C>G (p.Ser1040Arg)
c.3726C>G (p.Ser1242Arg)
c.4080C>G (p.Ser1360Arg)
 gnomAD v4
2g.25742437G=CA1239490472ASXL2c.3897C= (p.Ser1299=)
c.3900C= (p.Ser1300=)
c.3816C= (p.Ser1272=)
c.2349C= (p.Ser783=)
c.3534C= (p.Ser1178=)
c.3120C= (p.Ser1040=)
c.3726C= (p.Ser1242=)
c.4080C= (p.Ser1360=)
2g.25742437G>TCA346075358ASXL2c.3897C>A (p.Ser1299Arg)
c.3900C>A (p.Ser1300Arg)
c.3816C>A (p.Ser1272Arg)
c.2349C>A (p.Ser783Arg)
c.3534C>A (p.Ser1178Arg)
c.3120C>A (p.Ser1040Arg)
c.3726C>A (p.Ser1242Arg)
c.4080C>A (p.Ser1360Arg)
 gnomAD v4
2g.25742437_25742438insGGCCCA2576695355ASXL2c.3896_3897insGGCC (p.Ser1299ArgfsTer30)
c.3899_3900insGGCC (p.Ser1300ArgfsTer30)
c.3815_3816insGGCC (p.Ser1272ArgfsTer30)
c.2348_2349insGGCC (p.Ser783ArgfsTer30)
c.3533_3534insGGCC (p.Ser1178ArgfsTer30)
c.3119_3120insGGCC (p.Ser1040ArgfsTer30)
c.3725_3726insGGCC (p.Ser1242ArgfsTer30)
c.4079_4080insGGCC (p.Ser1360ArgfsTer30)
2g.25742437_25742438insGGGCCA2576695354ASXL2c.3896_3897insGCCC (p.Ser1299ArgfsTer30)
c.3899_3900insGCCC (p.Ser1300ArgfsTer30)
c.3815_3816insGCCC (p.Ser1272ArgfsTer30)
c.2348_2349insGCCC (p.Ser783ArgfsTer30)
c.3533_3534insGCCC (p.Ser1178ArgfsTer30)
c.3119_3120insGCCC (p.Ser1040ArgfsTer30)
c.3725_3726insGCCC (p.Ser1242ArgfsTer30)
c.4079_4080insGCCC (p.Ser1360ArgfsTer30)
2g.25742438C>ACA346075362ASXL2c.3896G>T (p.Ser1299Ile)
c.3899G>T (p.Ser1300Ile)
c.3815G>T (p.Ser1272Ile)
c.2348G>T (p.Ser783Ile)
c.3533G>T (p.Ser1178Ile)
c.3119G>T (p.Ser1040Ile)
c.3725G>T (p.Ser1242Ile)
c.4079G>T (p.Ser1360Ile)
2g.25742438C>GCA346075364ASXL2c.3896G>C (p.Ser1299Thr)
c.3899G>C (p.Ser1300Thr)
c.3815G>C (p.Ser1272Thr)
c.2348G>C (p.Ser783Thr)
c.3533G>C (p.Ser1178Thr)
c.3119G>C (p.Ser1040Thr)
c.3725G>C (p.Ser1242Thr)
c.4079G>C (p.Ser1360Thr)
2g.25742438C>TCA346075367ASXL2c.3896G>A (p.Ser1299Asn)
c.3899G>A (p.Ser1300Asn)
c.3815G>A (p.Ser1272Asn)
c.2348G>A (p.Ser783Asn)
c.3533G>A (p.Ser1178Asn)
c.3119G>A (p.Ser1040Asn)
c.3725G>A (p.Ser1242Asn)
c.4079G>A (p.Ser1360Asn)
 COSMIC COSMIC
2g.25742438_25742439insCCCA2576695356ASXL2c.3896_3897insGG (p.Ser1299ArgfsTer25)
c.3899_3900insGG (p.Ser1300ArgfsTer25)
c.3815_3816insGG (p.Ser1272ArgfsTer25)
c.2348_2349insGG (p.Ser783ArgfsTer25)
c.3533_3534insGG (p.Ser1178ArgfsTer25)
c.3119_3120insGG (p.Ser1040ArgfsTer25)
c.3725_3726insGG (p.Ser1242ArgfsTer25)
c.4079_4080insGG (p.Ser1360ArgfsTer25)
2g.25742438dupCA2576695357ASXL2c.3896dup (p.Ser1299ArgfsTer29)
c.3899dup (p.Ser1300ArgfsTer29)
c.3815dup (p.Ser1272ArgfsTer29)
c.2348dup (p.Ser783ArgfsTer29)
c.3533dup (p.Ser1178ArgfsTer29)
c.3119dup (p.Ser1040ArgfsTer29)
c.3725dup (p.Ser1242ArgfsTer29)
c.4079dup (p.Ser1360ArgfsTer29)
2g.25742439T>ACA346075371ASXL2c.3895A>T (p.Ser1299Cys)
c.3898A>T (p.Ser1300Cys)
c.3814A>T (p.Ser1272Cys)
c.2347A>T (p.Ser783Cys)
c.3532A>T (p.Ser1178Cys)
c.3118A>T (p.Ser1040Cys)
c.3724A>T (p.Ser1242Cys)
c.4078A>T (p.Ser1360Cys)
2g.25742439T>CCA346075377ASXL2c.3895A>G (p.Ser1299Gly)
c.3898A>G (p.Ser1300Gly)
c.3814A>G (p.Ser1272Gly)
c.2347A>G (p.Ser783Gly)
c.3532A>G (p.Ser1178Gly)
c.3118A>G (p.Ser1040Gly)
c.3724A>G (p.Ser1242Gly)
c.4078A>G (p.Ser1360Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.25742439T>GCA346075373ASXL2c.3895A>C (p.Ser1299Arg)
c.3898A>C (p.Ser1300Arg)
c.3814A>C (p.Ser1272Arg)
c.2347A>C (p.Ser783Arg)
c.3532A>C (p.Ser1178Arg)
c.3118A>C (p.Ser1040Arg)
c.3724A>C (p.Ser1242Arg)
c.4078A>C (p.Ser1360Arg)
2g.25742439T=CA1239490473ASXL2c.3895A= (p.Ser1299=)
c.3898A= (p.Ser1300=)
c.3814A= (p.Ser1272=)
c.2347A= (p.Ser783=)
c.3532A= (p.Ser1178=)
c.3118A= (p.Ser1040=)
c.3724A= (p.Ser1242=)
c.4078A= (p.Ser1360=)
2g.25742439_25742440insAGATCGGAAGAGCCA2533243214ASXL2c.3894_3895insGCTCTTCCGATCT (p.Ser1299AlafsTer5)
c.3897_3898insGCTCTTCCGATCT (p.Ser1300AlafsTer5)
c.3813_3814insGCTCTTCCGATCT (p.Ser1272AlafsTer5)
c.2346_2347insGCTCTTCCGATCT (p.Ser783AlafsTer5)
c.3531_3532insGCTCTTCCGATCT (p.Ser1178AlafsTer5)
c.3117_3118insGCTCTTCCGATCT (p.Ser1040AlafsTer5)
c.3723_3724insGCTCTTCCGATCT (p.Ser1242AlafsTer5)
c.4077_4078insGCTCTTCCGATCT (p.Ser1360AlafsTer5)
2g.25742440G>ACA425354920ASXL2c.3894C>T (p.Asp1298=)
c.3897C>T (p.Asp1299=)
c.3813C>T (p.Asp1271=)
c.2346C>T (p.Asp782=)
c.3531C>T (p.Asp1177=)
c.3117C>T (p.Asp1039=)
c.3723C>T (p.Asp1241=)
c.4077C>T (p.Asp1359=)
 gnomAD v4
2g.25742440G>CCA346075379ASXL2c.3894C>G (p.Asp1298Glu)
c.3897C>G (p.Asp1299Glu)
c.3813C>G (p.Asp1271Glu)
c.2346C>G (p.Asp782Glu)
c.3531C>G (p.Asp1177Glu)
c.3117C>G (p.Asp1039Glu)
c.3723C>G (p.Asp1241Glu)
c.4077C>G (p.Asp1359Glu)
2g.25742440G>TCA346075381ASXL2c.3894C>A (p.Asp1298Glu)
c.3897C>A (p.Asp1299Glu)
c.3813C>A (p.Asp1271Glu)
c.2346C>A (p.Asp782Glu)
c.3531C>A (p.Asp1177Glu)
c.3117C>A (p.Asp1039Glu)
c.3723C>A (p.Asp1241Glu)
c.4077C>A (p.Asp1359Glu)
2g.25742441T>ACA346075383ASXL2c.3893A>T (p.Asp1298Val)
c.3896A>T (p.Asp1299Val)
c.3812A>T (p.Asp1271Val)
c.2345A>T (p.Asp782Val)
c.3530A>T (p.Asp1177Val)
c.3116A>T (p.Asp1039Val)
c.3722A>T (p.Asp1241Val)
c.4076A>T (p.Asp1359Val)
2g.25742441T>CCA1557403ASXL2c.3893A>G (p.Asp1298Gly)
c.3896A>G (p.Asp1299Gly)
c.3812A>G (p.Asp1271Gly)
c.2345A>G (p.Asp782Gly)
c.3530A>G (p.Asp1177Gly)
c.3116A>G (p.Asp1039Gly)
c.3722A>G (p.Asp1241Gly)
c.4076A>G (p.Asp1359Gly)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.25742441T>GCA346075388ASXL2c.3893A>C (p.Asp1298Ala)
c.3896A>C (p.Asp1299Ala)
c.3812A>C (p.Asp1271Ala)
c.2345A>C (p.Asp782Ala)
c.3530A>C (p.Asp1177Ala)
c.3116A>C (p.Asp1039Ala)
c.3722A>C (p.Asp1241Ala)
c.4076A>C (p.Asp1359Ala)
2g.25742441T=CA1239490474ASXL2c.3893A= (p.Asp1298=)
c.3896A= (p.Asp1299=)
c.3812A= (p.Asp1271=)
c.2345A= (p.Asp782=)
c.3530A= (p.Asp1177=)
c.3116A= (p.Asp1039=)
c.3722A= (p.Asp1241=)
c.4076A= (p.Asp1359=)
2g.25742442C>ACA346075393ASXL2c.3892G>T (p.Asp1298Tyr)
c.3895G>T (p.Asp1299Tyr)
c.3811G>T (p.Asp1271Tyr)
c.2344G>T (p.Asp782Tyr)
c.3529G>T (p.Asp1177Tyr)
c.3115G>T (p.Asp1039Tyr)
c.3721G>T (p.Asp1241Tyr)
c.4075G>T (p.Asp1359Tyr)
2g.25742442C>GCA346075395ASXL2c.3892G>C (p.Asp1298His)
c.3895G>C (p.Asp1299His)
c.3811G>C (p.Asp1271His)
c.2344G>C (p.Asp782His)
c.3529G>C (p.Asp1177His)
c.3115G>C (p.Asp1039His)
c.3721G>C (p.Asp1241His)
c.4075G>C (p.Asp1359His)
2g.25742442C>TCA346075396ASXL2c.3892G>A (p.Asp1298Asn)
c.3895G>A (p.Asp1299Asn)
c.3811G>A (p.Asp1271Asn)
c.2344G>A (p.Asp782Asn)
c.3529G>A (p.Asp1177Asn)
c.3115G>A (p.Asp1039Asn)
c.3721G>A (p.Asp1241Asn)
c.4075G>A (p.Asp1359Asn)
 gnomAD v4
2g.25742443T>ACA425354928ASXL2c.3891A>T (p.Ala1297=)
c.3894A>T (p.Ala1298=)
c.3810A>T (p.Ala1270=)
c.2343A>T (p.Ala781=)
c.3528A>T (p.Ala1176=)
c.3114A>T (p.Ala1038=)
c.3720A>T (p.Ala1240=)
c.4074A>T (p.Ala1358=)
2g.25742443T>CCA1557404ASXL2c.3891A>G (p.Ala1297=)
c.3894A>G (p.Ala1298=)
c.3810A>G (p.Ala1270=)
c.2343A>G (p.Ala781=)
c.3528A>G (p.Ala1176=)
c.3114A>G (p.Ala1038=)
c.3720A>G (p.Ala1240=)
c.4074A>G (p.Ala1358=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742443T>GCA425354929ASXL2c.3891A>C (p.Ala1297=)
c.3894A>C (p.Ala1298=)
c.3810A>C (p.Ala1270=)
c.2343A>C (p.Ala781=)
c.3528A>C (p.Ala1176=)
c.3114A>C (p.Ala1038=)
c.3720A>C (p.Ala1240=)
c.4074A>C (p.Ala1358=)
2g.25742443T=CA1239490475ASXL2c.3891A= (p.Ala1297=)
c.3894A= (p.Ala1298=)
c.3810A= (p.Ala1270=)
c.2343A= (p.Ala781=)
c.3528A= (p.Ala1176=)
c.3114A= (p.Ala1038=)
c.3720A= (p.Ala1240=)
c.4074A= (p.Ala1358=)
2g.25742444G>ACA346075398ASXL2c.3890C>T (p.Ala1297Val)
c.3893C>T (p.Ala1298Val)
c.3809C>T (p.Ala1270Val)
c.2342C>T (p.Ala781Val)
c.3527C>T (p.Ala1176Val)
c.3113C>T (p.Ala1038Val)
c.3719C>T (p.Ala1240Val)
c.4073C>T (p.Ala1358Val)
 gnomAD v4
2g.25742444G>CCA346075400ASXL2c.3890C>G (p.Ala1297Gly)
c.3893C>G (p.Ala1298Gly)
c.3809C>G (p.Ala1270Gly)
c.2342C>G (p.Ala781Gly)
c.3527C>G (p.Ala1176Gly)
c.3113C>G (p.Ala1038Gly)
c.3719C>G (p.Ala1240Gly)
c.4073C>G (p.Ala1358Gly)
2g.25742444G>TCA346075397ASXL2c.3890C>A (p.Ala1297Glu)
c.3893C>A (p.Ala1298Glu)
c.3809C>A (p.Ala1270Glu)
c.2342C>A (p.Ala781Glu)
c.3527C>A (p.Ala1176Glu)
c.3113C>A (p.Ala1038Glu)
c.3719C>A (p.Ala1240Glu)
c.4073C>A (p.Ala1358Glu)
 gnomAD v4
2g.25742445C>ACA346075402ASXL2c.3889G>T (p.Ala1297Ser)
c.3892G>T (p.Ala1298Ser)
c.3808G>T (p.Ala1270Ser)
c.2341G>T (p.Ala781Ser)
c.3526G>T (p.Ala1176Ser)
c.3112G>T (p.Ala1038Ser)
c.3718G>T (p.Ala1240Ser)
c.4072G>T (p.Ala1358Ser)
2g.25742445C>GCA346075405ASXL2c.3889G>C (p.Ala1297Pro)
c.3892G>C (p.Ala1298Pro)
c.3808G>C (p.Ala1270Pro)
c.2341G>C (p.Ala781Pro)
c.3526G>C (p.Ala1176Pro)
c.3112G>C (p.Ala1038Pro)
c.3718G>C (p.Ala1240Pro)
c.4072G>C (p.Ala1358Pro)
 ClinVar
2g.25742445C>TCA346075407ASXL2c.3889G>A (p.Ala1297Thr)
c.3892G>A (p.Ala1298Thr)
c.3808G>A (p.Ala1270Thr)
c.2341G>A (p.Ala781Thr)
c.3526G>A (p.Ala1176Thr)
c.3112G>A (p.Ala1038Thr)
c.3718G>A (p.Ala1240Thr)
c.4072G>A (p.Ala1358Thr)
 gnomAD v4
2g.25742446A=CA1239490476ASXL2c.3888T= (p.Pro1296=)
c.3891T= (p.Pro1297=)
c.3807T= (p.Pro1269=)
c.2340T= (p.Pro780=)
c.3525T= (p.Pro1175=)
c.3111T= (p.Pro1037=)
c.3717T= (p.Pro1239=)
c.4071T= (p.Pro1357=)
2g.25742446A>CCA1557405ASXL2c.3888T>G (p.Pro1296=)
c.3891T>G (p.Pro1297=)
c.3807T>G (p.Pro1269=)
c.2340T>G (p.Pro780=)
c.3525T>G (p.Pro1175=)
c.3111T>G (p.Pro1037=)
c.3717T>G (p.Pro1239=)
c.4071T>G (p.Pro1357=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742446A>GCA425354940ASXL2c.3888T>C (p.Pro1296=)
c.3891T>C (p.Pro1297=)
c.3807T>C (p.Pro1269=)
c.2340T>C (p.Pro780=)
c.3525T>C (p.Pro1175=)
c.3111T>C (p.Pro1037=)
c.3717T>C (p.Pro1239=)
c.4071T>C (p.Pro1357=)
2g.25742446A>TCA425354941ASXL2c.3888T>A (p.Pro1296=)
c.3891T>A (p.Pro1297=)
c.3807T>A (p.Pro1269=)
c.2340T>A (p.Pro780=)
c.3525T>A (p.Pro1175=)
c.3111T>A (p.Pro1037=)
c.3717T>A (p.Pro1239=)
c.4071T>A (p.Pro1357=)
2g.25742447G>ACA346075414ASXL2c.3887C>T (p.Pro1296Leu)
c.3890C>T (p.Pro1297Leu)
c.3806C>T (p.Pro1269Leu)
c.2339C>T (p.Pro780Leu)
c.3524C>T (p.Pro1175Leu)
c.3110C>T (p.Pro1037Leu)
c.3716C>T (p.Pro1239Leu)
c.4070C>T (p.Pro1357Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742447G>CCA346075416ASXL2c.3887C>G (p.Pro1296Arg)
c.3890C>G (p.Pro1297Arg)
c.3806C>G (p.Pro1269Arg)
c.2339C>G (p.Pro780Arg)
c.3524C>G (p.Pro1175Arg)
c.3110C>G (p.Pro1037Arg)
c.3716C>G (p.Pro1239Arg)
c.4070C>G (p.Pro1357Arg)
2g.25742447G=CA1239490477ASXL2c.3887C= (p.Pro1296=)
c.3890C= (p.Pro1297=)
c.3806C= (p.Pro1269=)
c.2339C= (p.Pro780=)
c.3524C= (p.Pro1175=)
c.3110C= (p.Pro1037=)
c.3716C= (p.Pro1239=)
c.4070C= (p.Pro1357=)
2g.25742447G>TCA346075418ASXL2c.3887C>A (p.Pro1296His)
c.3890C>A (p.Pro1297His)
c.3806C>A (p.Pro1269His)
c.2339C>A (p.Pro780His)
c.3524C>A (p.Pro1175His)
c.3110C>A (p.Pro1037His)
c.3716C>A (p.Pro1239His)
c.4070C>A (p.Pro1357His)
 ClinVar
2g.25742448G>ACA346075424ASXL2c.3886C>T (p.Pro1296Ser)
c.3889C>T (p.Pro1297Ser)
c.3805C>T (p.Pro1269Ser)
c.2338C>T (p.Pro780Ser)
c.3523C>T (p.Pro1175Ser)
c.3109C>T (p.Pro1037Ser)
c.3715C>T (p.Pro1239Ser)
c.4069C>T (p.Pro1357Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.25742448G>CCA346075425ASXL2c.3886C>G (p.Pro1296Ala)
c.3889C>G (p.Pro1297Ala)
c.3805C>G (p.Pro1269Ala)
c.2338C>G (p.Pro780Ala)
c.3523C>G (p.Pro1175Ala)
c.3109C>G (p.Pro1037Ala)
c.3715C>G (p.Pro1239Ala)
c.4069C>G (p.Pro1357Ala)
2g.25742448G=CA1239490478ASXL2c.3886C= (p.Pro1296=)
c.3889C= (p.Pro1297=)
c.3805C= (p.Pro1269=)
c.2338C= (p.Pro780=)
c.3523C= (p.Pro1175=)
c.3109C= (p.Pro1037=)
c.3715C= (p.Pro1239=)
c.4069C= (p.Pro1357=)
2g.25742448G>TCA346075427ASXL2c.3886C>A (p.Pro1296Thr)
c.3889C>A (p.Pro1297Thr)
c.3805C>A (p.Pro1269Thr)
c.2338C>A (p.Pro780Thr)
c.3523C>A (p.Pro1175Thr)
c.3109C>A (p.Pro1037Thr)
c.3715C>A (p.Pro1239Thr)
c.4069C>A (p.Pro1357Thr)
2g.25742449C>ACA425354944ASXL2c.3885G>T (p.Leu1295=)
c.3888G>T (p.Leu1296=)
c.3804G>T (p.Leu1268=)
c.2337G>T (p.Leu779=)
c.3522G>T (p.Leu1174=)
c.3108G>T (p.Leu1036=)
c.3714G>T (p.Leu1238=)
c.4068G>T (p.Leu1356=)
2g.25742449C>GCA425354945ASXL2c.3885G>C (p.Leu1295=)
c.3888G>C (p.Leu1296=)
c.3804G>C (p.Leu1268=)
c.2337G>C (p.Leu779=)
c.3522G>C (p.Leu1174=)
c.3108G>C (p.Leu1036=)
c.3714G>C (p.Leu1238=)
c.4068G>C (p.Leu1356=)
2g.25742449C>TCA425354946ASXL2c.3885G>A (p.Leu1295=)
c.3888G>A (p.Leu1296=)
c.3804G>A (p.Leu1268=)
c.2337G>A (p.Leu779=)
c.3522G>A (p.Leu1174=)
c.3108G>A (p.Leu1036=)
c.3714G>A (p.Leu1238=)
c.4068G>A (p.Leu1356=)
2g.25742450A>CCA346075429ASXL2c.3884T>G (p.Leu1295Arg)
c.3887T>G (p.Leu1296Arg)
c.3803T>G (p.Leu1268Arg)
c.2336T>G (p.Leu779Arg)
c.3521T>G (p.Leu1174Arg)
c.3107T>G (p.Leu1036Arg)
c.3713T>G (p.Leu1238Arg)
c.4067T>G (p.Leu1356Arg)
2g.25742450A>GCA346075432ASXL2c.3884T>C (p.Leu1295Pro)
c.3887T>C (p.Leu1296Pro)
c.3803T>C (p.Leu1268Pro)
c.2336T>C (p.Leu779Pro)
c.3521T>C (p.Leu1174Pro)
c.3107T>C (p.Leu1036Pro)
c.3713T>C (p.Leu1238Pro)
c.4067T>C (p.Leu1356Pro)
2g.25742450A>TCA346075434ASXL2c.3884T>A (p.Leu1295Gln)
c.3887T>A (p.Leu1296Gln)
c.3803T>A (p.Leu1268Gln)
c.2336T>A (p.Leu779Gln)
c.3521T>A (p.Leu1174Gln)
c.3107T>A (p.Leu1036Gln)
c.3713T>A (p.Leu1238Gln)
c.4067T>A (p.Leu1356Gln)
 gnomAD v4
2g.25742451G>ACA425354950ASXL2c.3883C>T (p.Leu1295=)
c.3886C>T (p.Leu1296=)
c.3802C>T (p.Leu1268=)
c.2335C>T (p.Leu779=)
c.3520C>T (p.Leu1174=)
c.3106C>T (p.Leu1036=)
c.3712C>T (p.Leu1238=)
c.4066C>T (p.Leu1356=)
 dbSNP
2g.25742451G>CCA346075441ASXL2c.3883C>G (p.Leu1295Val)
c.3886C>G (p.Leu1296Val)
c.3802C>G (p.Leu1268Val)
c.2335C>G (p.Leu779Val)
c.3520C>G (p.Leu1174Val)
c.3106C>G (p.Leu1036Val)
c.3712C>G (p.Leu1238Val)
c.4066C>G (p.Leu1356Val)
2g.25742451G=CA1239490479ASXL2c.3883C= (p.Leu1295=)
c.3886C= (p.Leu1296=)
c.3802C= (p.Leu1268=)
c.2335C= (p.Leu779=)
c.3520C= (p.Leu1174=)
c.3106C= (p.Leu1036=)
c.3712C= (p.Leu1238=)
c.4066C= (p.Leu1356=)
2g.25742451G>TCA346075439ASXL2c.3883C>A (p.Leu1295Met)
c.3886C>A (p.Leu1296Met)
c.3802C>A (p.Leu1268Met)
c.2335C>A (p.Leu779Met)
c.3520C>A (p.Leu1174Met)
c.3106C>A (p.Leu1036Met)
c.3712C>A (p.Leu1238Met)
c.4066C>A (p.Leu1356Met)
2g.25742452A>CCA425354954ASXL2c.3882T>G (p.Pro1294=)
c.3885T>G (p.Pro1295=)
c.3801T>G (p.Pro1267=)
c.2334T>G (p.Pro778=)
c.3519T>G (p.Pro1173=)
c.3105T>G (p.Pro1035=)
c.3711T>G (p.Pro1237=)
c.4065T>G (p.Pro1355=)
2g.25742452A>GCA425354952ASXL2c.3882T>C (p.Pro1294=)
c.3885T>C (p.Pro1295=)
c.3801T>C (p.Pro1267=)
c.2334T>C (p.Pro778=)
c.3519T>C (p.Pro1173=)
c.3105T>C (p.Pro1035=)
c.3711T>C (p.Pro1237=)
c.4065T>C (p.Pro1355=)
2g.25742452A>TCA425354953ASXL2c.3882T>A (p.Pro1294=)
c.3885T>A (p.Pro1295=)
c.3801T>A (p.Pro1267=)
c.2334T>A (p.Pro778=)
c.3519T>A (p.Pro1173=)
c.3105T>A (p.Pro1035=)
c.3711T>A (p.Pro1237=)
c.4065T>A (p.Pro1355=)
2g.25742453G>ACA346075444ASXL2c.3881C>T (p.Pro1294Leu)
c.3884C>T (p.Pro1295Leu)
c.3800C>T (p.Pro1267Leu)
c.2333C>T (p.Pro778Leu)
c.3518C>T (p.Pro1173Leu)
c.3104C>T (p.Pro1035Leu)
c.3710C>T (p.Pro1237Leu)
c.4064C>T (p.Pro1355Leu)
 gnomAD v4
2g.25742453G>CCA346075446ASXL2c.3881C>G (p.Pro1294Arg)
c.3884C>G (p.Pro1295Arg)
c.3800C>G (p.Pro1267Arg)
c.2333C>G (p.Pro778Arg)
c.3518C>G (p.Pro1173Arg)
c.3104C>G (p.Pro1035Arg)
c.3710C>G (p.Pro1237Arg)
c.4064C>G (p.Pro1355Arg)
2g.25742453G>TCA346075450ASXL2c.3881C>A (p.Pro1294His)
c.3884C>A (p.Pro1295His)
c.3800C>A (p.Pro1267His)
c.2333C>A (p.Pro778His)
c.3518C>A (p.Pro1173His)
c.3104C>A (p.Pro1035His)
c.3710C>A (p.Pro1237His)
c.4064C>A (p.Pro1355His)
2g.25742454G>ACA346075454ASXL2c.3880C>T (p.Pro1294Ser)
c.3883C>T (p.Pro1295Ser)
c.3799C>T (p.Pro1267Ser)
c.2332C>T (p.Pro778Ser)
c.3517C>T (p.Pro1173Ser)
c.3103C>T (p.Pro1035Ser)
c.3709C>T (p.Pro1237Ser)
c.4063C>T (p.Pro1355Ser)
 gnomAD v4
2g.25742454G>CCA346075456ASXL2c.3880C>G (p.Pro1294Ala)
c.3883C>G (p.Pro1295Ala)
c.3799C>G (p.Pro1267Ala)
c.2332C>G (p.Pro778Ala)
c.3517C>G (p.Pro1173Ala)
c.3103C>G (p.Pro1035Ala)
c.3709C>G (p.Pro1237Ala)
c.4063C>G (p.Pro1355Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.25742454G=CA1239490480ASXL2c.3880C= (p.Pro1294=)
c.3883C= (p.Pro1295=)
c.3799C= (p.Pro1267=)
c.2332C= (p.Pro778=)
c.3517C= (p.Pro1173=)
c.3103C= (p.Pro1035=)
c.3709C= (p.Pro1237=)
c.4063C= (p.Pro1355=)
2g.25742454G>TCA346075460ASXL2c.3880C>A (p.Pro1294Thr)
c.3883C>A (p.Pro1295Thr)
c.3799C>A (p.Pro1267Thr)
c.2332C>A (p.Pro778Thr)
c.3517C>A (p.Pro1173Thr)
c.3103C>A (p.Pro1035Thr)
c.3709C>A (p.Pro1237Thr)
c.4063C>A (p.Pro1355Thr)
2g.25742455A=CA1239490481ASXL2c.3879T= (p.Leu1293=)
c.3882T= (p.Leu1294=)
c.3798T= (p.Leu1266=)
c.2331T= (p.Leu777=)
c.3516T= (p.Leu1172=)
c.3102T= (p.Leu1034=)
c.3708T= (p.Leu1236=)
c.4062T= (p.Leu1354=)
2g.25742455A>CCA425354959ASXL2c.3879T>G (p.Leu1293=)
c.3882T>G (p.Leu1294=)
c.3798T>G (p.Leu1266=)
c.2331T>G (p.Leu777=)
c.3516T>G (p.Leu1172=)
c.3102T>G (p.Leu1034=)
c.3708T>G (p.Leu1236=)
c.4062T>G (p.Leu1354=)
2g.25742455A>GCA425354964ASXL2c.3879T>C (p.Leu1293=)
c.3882T>C (p.Leu1294=)
c.3798T>C (p.Leu1266=)
c.2331T>C (p.Leu777=)
c.3516T>C (p.Leu1172=)
c.3102T>C (p.Leu1034=)
c.3708T>C (p.Leu1236=)
c.4062T>C (p.Leu1354=)
2g.25742455A>TCA1557406ASXL2c.3879T>A (p.Leu1293=)
c.3882T>A (p.Leu1294=)
c.3798T>A (p.Leu1266=)
c.2331T>A (p.Leu777=)
c.3516T>A (p.Leu1172=)
c.3102T>A (p.Leu1034=)
c.3708T>A (p.Leu1236=)
c.4062T>A (p.Leu1354=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742456A=CA1239490482ASXL2c.3878T= (p.Leu1293=)
c.3881T= (p.Leu1294=)
c.3797T= (p.Leu1266=)
c.2330T= (p.Leu777=)
c.3515T= (p.Leu1172=)
c.3101T= (p.Leu1034=)
c.3707T= (p.Leu1236=)
c.4061T= (p.Leu1354=)
2g.25742456A>CCA346075467ASXL2c.3878T>G (p.Leu1293Arg)
c.3881T>G (p.Leu1294Arg)
c.3797T>G (p.Leu1266Arg)
c.2330T>G (p.Leu777Arg)
c.3515T>G (p.Leu1172Arg)
c.3101T>G (p.Leu1034Arg)
c.3707T>G (p.Leu1236Arg)
c.4061T>G (p.Leu1354Arg)
2g.25742456A>GCA346075470ASXL2c.3878T>C (p.Leu1293Pro)
c.3881T>C (p.Leu1294Pro)
c.3797T>C (p.Leu1266Pro)
c.2330T>C (p.Leu777Pro)
c.3515T>C (p.Leu1172Pro)
c.3101T>C (p.Leu1034Pro)
c.3707T>C (p.Leu1236Pro)
c.4061T>C (p.Leu1354Pro)
 dbSNP gnomAD v4
2g.25742456A>TCA346075472ASXL2c.3878T>A (p.Leu1293His)
c.3881T>A (p.Leu1294His)
c.3797T>A (p.Leu1266His)
c.2330T>A (p.Leu777His)
c.3515T>A (p.Leu1172His)
c.3101T>A (p.Leu1034His)
c.3707T>A (p.Leu1236His)
c.4061T>A (p.Leu1354His)

Number of alleles fetched