Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.33740509_33743845delinsAGAAGCCTAGGTGTACCA2740091793ASXL3c.3042+66_4000delinsAGAAGCCTAGGTGTAC
c.3039+66_3997delinsAGAAGCCTAGGTGTAC
c.2919+66_3877delinsAGAAGCCTAGGTGTAC
c.3015+66_3973delinsAGAAGCCTAGGTGTAC
c.2961+66_3919delinsAGAAGCCTAGGTGTAC
c.2922+66_3880delinsAGAAGCCTAGGTGTAC
c.2871+66_3829delinsAGAAGCCTAGGTGTAC
ClinVar
18g.33743755A=CA2294857830ASXL3c.3910A= (p.Thr1304=)
c.3907A= (p.Thr1303=)
c.3787A= (p.Thr1263=)
c.3883A= (p.Thr1295=)
c.3829A= (p.Thr1277=)
c.3790A= (p.Thr1264=)
c.3739A= (p.Thr1247=)
c.871A= (p.Thr291=)
18g.33743755A>CCA402188728ASXL3c.3910A>C (p.Thr1304Pro)
c.3907A>C (p.Thr1303Pro)
c.3787A>C (p.Thr1263Pro)
c.3883A>C (p.Thr1295Pro)
c.3829A>C (p.Thr1277Pro)
c.3790A>C (p.Thr1264Pro)
c.3739A>C (p.Thr1247Pro)
c.871A>C (p.Thr291Pro)
dbSNP
18g.33743755A>GCA8934139ASXL3c.3910A>G (p.Thr1304Ala)
c.3907A>G (p.Thr1303Ala)
c.3787A>G (p.Thr1263Ala)
c.3883A>G (p.Thr1295Ala)
c.3829A>G (p.Thr1277Ala)
c.3790A>G (p.Thr1264Ala)
c.3739A>G (p.Thr1247Ala)
c.871A>G (p.Thr291Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743755A>TCA402188734ASXL3c.3910A>T (p.Thr1304Ser)
c.3907A>T (p.Thr1303Ser)
c.3787A>T (p.Thr1263Ser)
c.3883A>T (p.Thr1295Ser)
c.3829A>T (p.Thr1277Ser)
c.3790A>T (p.Thr1264Ser)
c.3739A>T (p.Thr1247Ser)
c.871A>T (p.Thr291Ser)
18g.33743756C>ACA402188738ASXL3c.3911C>A (p.Thr1304Asn)
c.3908C>A (p.Thr1303Asn)
c.3788C>A (p.Thr1263Asn)
c.3884C>A (p.Thr1295Asn)
c.3830C>A (p.Thr1277Asn)
c.3791C>A (p.Thr1264Asn)
c.3740C>A (p.Thr1247Asn)
c.872C>A (p.Thr291Asn)
18g.33743756C>GCA402188742ASXL3c.3911C>G (p.Thr1304Ser)
c.3908C>G (p.Thr1303Ser)
c.3788C>G (p.Thr1263Ser)
c.3884C>G (p.Thr1295Ser)
c.3830C>G (p.Thr1277Ser)
c.3791C>G (p.Thr1264Ser)
c.3740C>G (p.Thr1247Ser)
c.872C>G (p.Thr291Ser)
18g.33743756C>TCA402188745ASXL3c.3911C>T (p.Thr1304Ile)
c.3908C>T (p.Thr1303Ile)
c.3788C>T (p.Thr1263Ile)
c.3884C>T (p.Thr1295Ile)
c.3830C>T (p.Thr1277Ile)
c.3791C>T (p.Thr1264Ile)
c.3740C>T (p.Thr1247Ile)
c.872C>T (p.Thr291Ile)
18g.33743757T>ACA503769930ASXL3c.3912T>A (p.Thr1304=)
c.3909T>A (p.Thr1303=)
c.3789T>A (p.Thr1263=)
c.3885T>A (p.Thr1295=)
c.3831T>A (p.Thr1277=)
c.3792T>A (p.Thr1264=)
c.3741T>A (p.Thr1247=)
c.873T>A (p.Thr291=)
18g.33743757T>CCA503769932ASXL3c.3912T>C (p.Thr1304=)
c.3909T>C (p.Thr1303=)
c.3789T>C (p.Thr1263=)
c.3885T>C (p.Thr1295=)
c.3831T>C (p.Thr1277=)
c.3792T>C (p.Thr1264=)
c.3741T>C (p.Thr1247=)
c.873T>C (p.Thr291=)
18g.33743757T>GCA503769933ASXL3c.3912T>G (p.Thr1304=)
c.3909T>G (p.Thr1303=)
c.3789T>G (p.Thr1263=)
c.3885T>G (p.Thr1295=)
c.3831T>G (p.Thr1277=)
c.3792T>G (p.Thr1264=)
c.3741T>G (p.Thr1247=)
c.873T>G (p.Thr291=)
18g.33743758C>ACA402188753ASXL3c.3913C>A (p.Pro1305Thr)
c.3910C>A (p.Pro1304Thr)
c.3790C>A (p.Pro1264Thr)
c.3886C>A (p.Pro1296Thr)
c.3832C>A (p.Pro1278Thr)
c.3793C>A (p.Pro1265Thr)
c.3742C>A (p.Pro1248Thr)
c.874C>A (p.Pro292Thr)
18g.33743758C>GCA402188751ASXL3c.3913C>G (p.Pro1305Ala)
c.3910C>G (p.Pro1304Ala)
c.3790C>G (p.Pro1264Ala)
c.3886C>G (p.Pro1296Ala)
c.3832C>G (p.Pro1278Ala)
c.3793C>G (p.Pro1265Ala)
c.3742C>G (p.Pro1248Ala)
c.874C>G (p.Pro292Ala)
18g.33743758C>TCA402188750ASXL3c.3913C>T (p.Pro1305Ser)
c.3910C>T (p.Pro1304Ser)
c.3790C>T (p.Pro1264Ser)
c.3886C>T (p.Pro1296Ser)
c.3832C>T (p.Pro1278Ser)
c.3793C>T (p.Pro1265Ser)
c.3742C>T (p.Pro1248Ser)
c.874C>T (p.Pro292Ser)
18g.33743759C>ACA402188759ASXL3c.3914C>A (p.Pro1305His)
c.3911C>A (p.Pro1304His)
c.3791C>A (p.Pro1264His)
c.3887C>A (p.Pro1296His)
c.3833C>A (p.Pro1278His)
c.3794C>A (p.Pro1265His)
c.3743C>A (p.Pro1248His)
c.875C>A (p.Pro292His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743759C=CA2294857831ASXL3c.3914C= (p.Pro1305=)
c.3911C= (p.Pro1304=)
c.3791C= (p.Pro1264=)
c.3887C= (p.Pro1296=)
c.3833C= (p.Pro1278=)
c.3794C= (p.Pro1265=)
c.3743C= (p.Pro1248=)
c.875C= (p.Pro292=)
18g.33743759C>GCA402188761ASXL3c.3914C>G (p.Pro1305Arg)
c.3911C>G (p.Pro1304Arg)
c.3791C>G (p.Pro1264Arg)
c.3887C>G (p.Pro1296Arg)
c.3833C>G (p.Pro1278Arg)
c.3794C>G (p.Pro1265Arg)
c.3743C>G (p.Pro1248Arg)
c.875C>G (p.Pro292Arg)
18g.33743759C>TCA402188764ASXL3c.3914C>T (p.Pro1305Leu)
c.3911C>T (p.Pro1304Leu)
c.3791C>T (p.Pro1264Leu)
c.3887C>T (p.Pro1296Leu)
c.3833C>T (p.Pro1278Leu)
c.3794C>T (p.Pro1265Leu)
c.3743C>T (p.Pro1248Leu)
c.875C>T (p.Pro292Leu)
gnomAD v4
18g.33743760C>ACA503769937ASXL3c.3915C>A (p.Pro1305=)
c.3912C>A (p.Pro1304=)
c.3792C>A (p.Pro1264=)
c.3888C>A (p.Pro1296=)
c.3834C>A (p.Pro1278=)
c.3795C>A (p.Pro1265=)
c.3744C>A (p.Pro1248=)
c.876C>A (p.Pro292=)
18g.33743760C>GCA503769939ASXL3c.3915C>G (p.Pro1305=)
c.3912C>G (p.Pro1304=)
c.3792C>G (p.Pro1264=)
c.3888C>G (p.Pro1296=)
c.3834C>G (p.Pro1278=)
c.3795C>G (p.Pro1265=)
c.3744C>G (p.Pro1248=)
c.876C>G (p.Pro292=)
18g.33743760C>TCA503769936ASXL3c.3915C>T (p.Pro1305=)
c.3912C>T (p.Pro1304=)
c.3792C>T (p.Pro1264=)
c.3888C>T (p.Pro1296=)
c.3834C>T (p.Pro1278=)
c.3795C>T (p.Pro1265=)
c.3744C>T (p.Pro1248=)
c.876C>T (p.Pro292=)
18g.33743761A>CCA402188768ASXL3c.3916A>C (p.Ile1306Leu)
c.3913A>C (p.Ile1305Leu)
c.3793A>C (p.Ile1265Leu)
c.3889A>C (p.Ile1297Leu)
c.3835A>C (p.Ile1279Leu)
c.3796A>C (p.Ile1266Leu)
c.3745A>C (p.Ile1249Leu)
c.877A>C (p.Ile293Leu)
18g.33743761A>GCA402188770ASXL3c.3916A>G (p.Ile1306Val)
c.3913A>G (p.Ile1305Val)
c.3793A>G (p.Ile1265Val)
c.3889A>G (p.Ile1297Val)
c.3835A>G (p.Ile1279Val)
c.3796A>G (p.Ile1266Val)
c.3745A>G (p.Ile1249Val)
c.877A>G (p.Ile293Val)
18g.33743761A>TCA402188773ASXL3c.3916A>T (p.Ile1306Phe)
c.3913A>T (p.Ile1305Phe)
c.3793A>T (p.Ile1265Phe)
c.3889A>T (p.Ile1297Phe)
c.3835A>T (p.Ile1279Phe)
c.3796A>T (p.Ile1266Phe)
c.3745A>T (p.Ile1249Phe)
c.877A>T (p.Ile293Phe)
18g.33743762T>ACA402188783ASXL3c.3917T>A (p.Ile1306Asn)
c.3914T>A (p.Ile1305Asn)
c.3794T>A (p.Ile1265Asn)
c.3890T>A (p.Ile1297Asn)
c.3836T>A (p.Ile1279Asn)
c.3797T>A (p.Ile1266Asn)
c.3746T>A (p.Ile1249Asn)
c.878T>A (p.Ile293Asn)
18g.33743762T>CCA402188777ASXL3c.3917T>C (p.Ile1306Thr)
c.3914T>C (p.Ile1305Thr)
c.3794T>C (p.Ile1265Thr)
c.3890T>C (p.Ile1297Thr)
c.3836T>C (p.Ile1279Thr)
c.3797T>C (p.Ile1266Thr)
c.3746T>C (p.Ile1249Thr)
c.878T>C (p.Ile293Thr)
18g.33743762T>GCA402188780ASXL3c.3917T>G (p.Ile1306Ser)
c.3914T>G (p.Ile1305Ser)
c.3794T>G (p.Ile1265Ser)
c.3890T>G (p.Ile1297Ser)
c.3836T>G (p.Ile1279Ser)
c.3797T>G (p.Ile1266Ser)
c.3746T>G (p.Ile1249Ser)
c.878T>G (p.Ile293Ser)
18g.33743763T>ACA503769949ASXL3c.3918T>A (p.Ile1306=)
c.3915T>A (p.Ile1305=)
c.3795T>A (p.Ile1265=)
c.3891T>A (p.Ile1297=)
c.3837T>A (p.Ile1279=)
c.3798T>A (p.Ile1266=)
c.3747T>A (p.Ile1249=)
c.879T>A (p.Ile293=)
18g.33743763T>CCA503769946ASXL3c.3918T>C (p.Ile1306=)
c.3915T>C (p.Ile1305=)
c.3795T>C (p.Ile1265=)
c.3891T>C (p.Ile1297=)
c.3837T>C (p.Ile1279=)
c.3798T>C (p.Ile1266=)
c.3747T>C (p.Ile1249=)
c.879T>C (p.Ile293=)
18g.33743763T>GCA402188786ASXL3c.3918T>G (p.Ile1306Met)
c.3915T>G (p.Ile1305Met)
c.3795T>G (p.Ile1265Met)
c.3891T>G (p.Ile1297Met)
c.3837T>G (p.Ile1279Met)
c.3798T>G (p.Ile1266Met)
c.3747T>G (p.Ile1249Met)
c.879T>G (p.Ile293Met)
18g.33743764T>ACA402188791ASXL3c.3919T>A (p.Ser1307Thr)
c.3916T>A (p.Ser1306Thr)
c.3796T>A (p.Ser1266Thr)
c.3892T>A (p.Ser1298Thr)
c.3838T>A (p.Ser1280Thr)
c.3799T>A (p.Ser1267Thr)
c.3748T>A (p.Ser1250Thr)
c.880T>A (p.Ser294Thr)
18g.33743764T>CCA402188794ASXL3c.3919T>C (p.Ser1307Pro)
c.3916T>C (p.Ser1306Pro)
c.3796T>C (p.Ser1266Pro)
c.3892T>C (p.Ser1298Pro)
c.3838T>C (p.Ser1280Pro)
c.3799T>C (p.Ser1267Pro)
c.3748T>C (p.Ser1250Pro)
c.880T>C (p.Ser294Pro)
18g.33743764T>GCA402188796ASXL3c.3919T>G (p.Ser1307Ala)
c.3916T>G (p.Ser1306Ala)
c.3796T>G (p.Ser1266Ala)
c.3892T>G (p.Ser1298Ala)
c.3838T>G (p.Ser1280Ala)
c.3799T>G (p.Ser1267Ala)
c.3748T>G (p.Ser1250Ala)
c.880T>G (p.Ser294Ala)
gnomAD v4
18g.33743765C>ACA402188800ASXL3c.3920C>A (p.Ser1307Ter)
c.3917C>A (p.Ser1306Ter)
c.3797C>A (p.Ser1266Ter)
c.3893C>A (p.Ser1298Ter)
c.3839C>A (p.Ser1280Ter)
c.3800C>A (p.Ser1267Ter)
c.3749C>A (p.Ser1250Ter)
c.881C>A (p.Ser294Ter)
18g.33743765C>GCA402188803ASXL3c.3920C>G (p.Ser1307Ter)
c.3917C>G (p.Ser1306Ter)
c.3797C>G (p.Ser1266Ter)
c.3893C>G (p.Ser1298Ter)
c.3839C>G (p.Ser1280Ter)
c.3800C>G (p.Ser1267Ter)
c.3749C>G (p.Ser1250Ter)
c.881C>G (p.Ser294Ter)
18g.33743765C>TCA402188805ASXL3c.3920C>T (p.Ser1307Leu)
c.3917C>T (p.Ser1306Leu)
c.3797C>T (p.Ser1266Leu)
c.3893C>T (p.Ser1298Leu)
c.3839C>T (p.Ser1280Leu)
c.3800C>T (p.Ser1267Leu)
c.3749C>T (p.Ser1250Leu)
c.881C>T (p.Ser294Leu)
18g.33743766A>CCA503769956ASXL3c.3921A>C (p.Ser1307=)
c.3918A>C (p.Ser1306=)
c.3798A>C (p.Ser1266=)
c.3894A>C (p.Ser1298=)
c.3840A>C (p.Ser1280=)
c.3801A>C (p.Ser1267=)
c.3750A>C (p.Ser1250=)
c.882A>C (p.Ser294=)
18g.33743766A>GCA503769965ASXL3c.3921A>G (p.Ser1307=)
c.3918A>G (p.Ser1306=)
c.3798A>G (p.Ser1266=)
c.3894A>G (p.Ser1298=)
c.3840A>G (p.Ser1280=)
c.3801A>G (p.Ser1267=)
c.3750A>G (p.Ser1250=)
c.882A>G (p.Ser294=)
18g.33743766A>TCA503769964ASXL3c.3921A>T (p.Ser1307=)
c.3918A>T (p.Ser1306=)
c.3798A>T (p.Ser1266=)
c.3894A>T (p.Ser1298=)
c.3840A>T (p.Ser1280=)
c.3801A>T (p.Ser1267=)
c.3750A>T (p.Ser1250=)
c.882A>T (p.Ser294=)
18g.33743767G>ACA402188808ASXL3c.3922G>A (p.Ala1308Thr)
c.3919G>A (p.Ala1307Thr)
c.3799G>A (p.Ala1267Thr)
c.3895G>A (p.Ala1299Thr)
c.3841G>A (p.Ala1281Thr)
c.3802G>A (p.Ala1268Thr)
c.3751G>A (p.Ala1251Thr)
c.883G>A (p.Ala295Thr)
gnomAD v4
18g.33743767G>CCA402188810ASXL3c.3922G>C (p.Ala1308Pro)
c.3919G>C (p.Ala1307Pro)
c.3799G>C (p.Ala1267Pro)
c.3895G>C (p.Ala1299Pro)
c.3841G>C (p.Ala1281Pro)
c.3802G>C (p.Ala1268Pro)
c.3751G>C (p.Ala1251Pro)
c.883G>C (p.Ala295Pro)
gnomAD v4
18g.33743767G>TCA402188812ASXL3c.3922G>T (p.Ala1308Ser)
c.3919G>T (p.Ala1307Ser)
c.3799G>T (p.Ala1267Ser)
c.3895G>T (p.Ala1299Ser)
c.3841G>T (p.Ala1281Ser)
c.3802G>T (p.Ala1268Ser)
c.3751G>T (p.Ala1251Ser)
c.883G>T (p.Ala295Ser)
gnomAD v4
18g.33743768C>ACA402188816ASXL3c.3923C>A (p.Ala1308Asp)
c.3920C>A (p.Ala1307Asp)
c.3800C>A (p.Ala1267Asp)
c.3896C>A (p.Ala1299Asp)
c.3842C>A (p.Ala1281Asp)
c.3803C>A (p.Ala1268Asp)
c.3752C>A (p.Ala1251Asp)
c.884C>A (p.Ala295Asp)
18g.33743768C>GCA402188818ASXL3c.3923C>G (p.Ala1308Gly)
c.3920C>G (p.Ala1307Gly)
c.3800C>G (p.Ala1267Gly)
c.3896C>G (p.Ala1299Gly)
c.3842C>G (p.Ala1281Gly)
c.3803C>G (p.Ala1268Gly)
c.3752C>G (p.Ala1251Gly)
c.884C>G (p.Ala295Gly)
18g.33743768C>TCA402188821ASXL3c.3923C>T (p.Ala1308Val)
c.3920C>T (p.Ala1307Val)
c.3800C>T (p.Ala1267Val)
c.3896C>T (p.Ala1299Val)
c.3842C>T (p.Ala1281Val)
c.3803C>T (p.Ala1268Val)
c.3752C>T (p.Ala1251Val)
c.884C>T (p.Ala295Val)
18g.33743769C>ACA503769974ASXL3c.3924C>A (p.Ala1308=)
c.3921C>A (p.Ala1307=)
c.3801C>A (p.Ala1267=)
c.3897C>A (p.Ala1299=)
c.3843C>A (p.Ala1281=)
c.3804C>A (p.Ala1268=)
c.3753C>A (p.Ala1251=)
c.885C>A (p.Ala295=)
18g.33743769C=CA2294857832ASXL3c.3924C= (p.Ala1308=)
c.3921C= (p.Ala1307=)
c.3801C= (p.Ala1267=)
c.3897C= (p.Ala1299=)
c.3843C= (p.Ala1281=)
c.3804C= (p.Ala1268=)
c.3753C= (p.Ala1251=)
c.885C= (p.Ala295=)
18g.33743769C>GCA503769976ASXL3c.3924C>G (p.Ala1308=)
c.3921C>G (p.Ala1307=)
c.3801C>G (p.Ala1267=)
c.3897C>G (p.Ala1299=)
c.3843C>G (p.Ala1281=)
c.3804C>G (p.Ala1268=)
c.3753C>G (p.Ala1251=)
c.885C>G (p.Ala295=)
gnomAD v4
18g.33743769C>TCA503769978ASXL3c.3924C>T (p.Ala1308=)
c.3921C>T (p.Ala1307=)
c.3801C>T (p.Ala1267=)
c.3897C>T (p.Ala1299=)
c.3843C>T (p.Ala1281=)
c.3804C>T (p.Ala1268=)
c.3753C>T (p.Ala1251=)
c.885C>T (p.Ala295=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743770A>CCA402188832ASXL3c.3925A>C (p.Thr1309Pro)
c.3922A>C (p.Thr1308Pro)
c.3802A>C (p.Thr1268Pro)
c.3898A>C (p.Thr1300Pro)
c.3844A>C (p.Thr1282Pro)
c.3805A>C (p.Thr1269Pro)
c.3754A>C (p.Thr1252Pro)
c.886A>C (p.Thr296Pro)
18g.33743770A>GCA402188826ASXL3c.3925A>G (p.Thr1309Ala)
c.3922A>G (p.Thr1308Ala)
c.3802A>G (p.Thr1268Ala)
c.3898A>G (p.Thr1300Ala)
c.3844A>G (p.Thr1282Ala)
c.3805A>G (p.Thr1269Ala)
c.3754A>G (p.Thr1252Ala)
c.886A>G (p.Thr296Ala)
18g.33743770A>TCA402188830ASXL3c.3925A>T (p.Thr1309Ser)
c.3922A>T (p.Thr1308Ser)
c.3802A>T (p.Thr1268Ser)
c.3898A>T (p.Thr1300Ser)
c.3844A>T (p.Thr1282Ser)
c.3805A>T (p.Thr1269Ser)
c.3754A>T (p.Thr1252Ser)
c.886A>T (p.Thr296Ser)
18g.33743771C>ACA402188835ASXL3c.3926C>A (p.Thr1309Asn)
c.3923C>A (p.Thr1308Asn)
c.3803C>A (p.Thr1268Asn)
c.3899C>A (p.Thr1300Asn)
c.3845C>A (p.Thr1282Asn)
c.3806C>A (p.Thr1269Asn)
c.3755C>A (p.Thr1252Asn)
c.887C>A (p.Thr296Asn)
18g.33743771C>GCA402188841ASXL3c.3926C>G (p.Thr1309Ser)
c.3923C>G (p.Thr1308Ser)
c.3803C>G (p.Thr1268Ser)
c.3899C>G (p.Thr1300Ser)
c.3845C>G (p.Thr1282Ser)
c.3806C>G (p.Thr1269Ser)
c.3755C>G (p.Thr1252Ser)
c.887C>G (p.Thr296Ser)
18g.33743771C>TCA402188838ASXL3c.3926C>T (p.Thr1309Ile)
c.3923C>T (p.Thr1308Ile)
c.3803C>T (p.Thr1268Ile)
c.3899C>T (p.Thr1300Ile)
c.3845C>T (p.Thr1282Ile)
c.3806C>T (p.Thr1269Ile)
c.3755C>T (p.Thr1252Ile)
c.887C>T (p.Thr296Ile)
gnomAD v4
18g.33743772T>ACA503769983ASXL3c.3927T>A (p.Thr1309=)
c.3924T>A (p.Thr1308=)
c.3804T>A (p.Thr1268=)
c.3900T>A (p.Thr1300=)
c.3846T>A (p.Thr1282=)
c.3807T>A (p.Thr1269=)
c.3756T>A (p.Thr1252=)
c.888T>A (p.Thr296=)
18g.33743772T>CCA503769986ASXL3c.3927T>C (p.Thr1309=)
c.3924T>C (p.Thr1308=)
c.3804T>C (p.Thr1268=)
c.3900T>C (p.Thr1300=)
c.3846T>C (p.Thr1282=)
c.3807T>C (p.Thr1269=)
c.3756T>C (p.Thr1252=)
c.888T>C (p.Thr296=)
18g.33743772T>GCA503769989ASXL3c.3927T>G (p.Thr1309=)
c.3924T>G (p.Thr1308=)
c.3804T>G (p.Thr1268=)
c.3900T>G (p.Thr1300=)
c.3846T>G (p.Thr1282=)
c.3807T>G (p.Thr1269=)
c.3756T>G (p.Thr1252=)
c.888T>G (p.Thr296=)
18g.33743772_33743773delCA2542545564ASXL3c.3927_3928del (p.Thr1310ArgfsTer11)
c.3924_3925del (p.Thr1309ArgfsTer11)
c.3804_3805del (p.Thr1269ArgfsTer11)
c.3900_3901del (p.Thr1301ArgfsTer11)
c.3846_3847del (p.Thr1283ArgfsTer11)
c.3807_3808del (p.Thr1270ArgfsTer11)
c.3756_3757del (p.Thr1253ArgfsTer11)
c.888_889del (p.Thr297ArgfsTer11)
18g.33743773A=CA2294857833ASXL3c.3928A= (p.Thr1310=)
c.3925A= (p.Thr1309=)
c.3805A= (p.Thr1269=)
c.3901A= (p.Thr1301=)
c.3847A= (p.Thr1283=)
c.3808A= (p.Thr1270=)
c.3757A= (p.Thr1253=)
c.889A= (p.Thr297=)
18g.33743773A>CCA402188845ASXL3c.3928A>C (p.Thr1310Pro)
c.3925A>C (p.Thr1309Pro)
c.3805A>C (p.Thr1269Pro)
c.3901A>C (p.Thr1301Pro)
c.3847A>C (p.Thr1283Pro)
c.3808A>C (p.Thr1270Pro)
c.3757A>C (p.Thr1253Pro)
c.889A>C (p.Thr297Pro)
18g.33743773A>GCA8934140ASXL3c.3928A>G (p.Thr1310Ala)
c.3925A>G (p.Thr1309Ala)
c.3805A>G (p.Thr1269Ala)
c.3901A>G (p.Thr1301Ala)
c.3847A>G (p.Thr1283Ala)
c.3808A>G (p.Thr1270Ala)
c.3757A>G (p.Thr1253Ala)
c.889A>G (p.Thr297Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743773A>TCA402188847ASXL3c.3928A>T (p.Thr1310Ser)
c.3925A>T (p.Thr1309Ser)
c.3805A>T (p.Thr1269Ser)
c.3901A>T (p.Thr1301Ser)
c.3847A>T (p.Thr1283Ser)
c.3808A>T (p.Thr1270Ser)
c.3757A>T (p.Thr1253Ser)
c.889A>T (p.Thr297Ser)
18g.33743774C>ACA402188853ASXL3c.3929C>A (p.Thr1310Lys)
c.3926C>A (p.Thr1309Lys)
c.3806C>A (p.Thr1269Lys)
c.3902C>A (p.Thr1301Lys)
c.3848C>A (p.Thr1283Lys)
c.3809C>A (p.Thr1270Lys)
c.3758C>A (p.Thr1253Lys)
c.890C>A (p.Thr297Lys)
18g.33743774C>GCA402188855ASXL3c.3929C>G (p.Thr1310Arg)
c.3926C>G (p.Thr1309Arg)
c.3806C>G (p.Thr1269Arg)
c.3902C>G (p.Thr1301Arg)
c.3848C>G (p.Thr1283Arg)
c.3809C>G (p.Thr1270Arg)
c.3758C>G (p.Thr1253Arg)
c.890C>G (p.Thr297Arg)
gnomAD v4
18g.33743774C>TCA402188857ASXL3c.3929C>T (p.Thr1310Ile)
c.3926C>T (p.Thr1309Ile)
c.3806C>T (p.Thr1269Ile)
c.3902C>T (p.Thr1301Ile)
c.3848C>T (p.Thr1283Ile)
c.3809C>T (p.Thr1270Ile)
c.3758C>T (p.Thr1253Ile)
c.890C>T (p.Thr297Ile)
18g.33743775A>CCA503769997ASXL3c.3930A>C (p.Thr1310=)
c.3927A>C (p.Thr1309=)
c.3807A>C (p.Thr1269=)
c.3903A>C (p.Thr1301=)
c.3849A>C (p.Thr1283=)
c.3810A>C (p.Thr1270=)
c.3759A>C (p.Thr1253=)
c.891A>C (p.Thr297=)
18g.33743775A>GCA503769999ASXL3c.3930A>G (p.Thr1310=)
c.3927A>G (p.Thr1309=)
c.3807A>G (p.Thr1269=)
c.3903A>G (p.Thr1301=)
c.3849A>G (p.Thr1283=)
c.3810A>G (p.Thr1270=)
c.3759A>G (p.Thr1253=)
c.891A>G (p.Thr297=)
18g.33743775A>TCA503770001ASXL3c.3930A>T (p.Thr1310=)
c.3927A>T (p.Thr1309=)
c.3807A>T (p.Thr1269=)
c.3903A>T (p.Thr1301=)
c.3849A>T (p.Thr1283=)
c.3810A>T (p.Thr1270=)
c.3759A>T (p.Thr1253=)
c.891A>T (p.Thr297=)
18g.33743775_33743776insAGCA2566674930ASXL3c.3930_3931insAG (p.Glu1311ArgfsTer16)
c.3927_3928insAG (p.Glu1310ArgfsTer16)
c.3807_3808insAG (p.Glu1270ArgfsTer16)
c.3903_3904insAG (p.Glu1302ArgfsTer16)
c.3849_3850insAG (p.Glu1284ArgfsTer16)
c.3810_3811insAG (p.Glu1271ArgfsTer16)
c.3759_3760insAG (p.Glu1254ArgfsTer16)
c.891_892insAG (p.Glu298ArgfsTer16)
18g.33743776G>ACA402188860ASXL3c.3931G>A (p.Glu1311Lys)
c.3928G>A (p.Glu1310Lys)
c.3808G>A (p.Glu1270Lys)
c.3904G>A (p.Glu1302Lys)
c.3850G>A (p.Glu1284Lys)
c.3811G>A (p.Glu1271Lys)
c.3760G>A (p.Glu1254Lys)
c.892G>A (p.Glu298Lys)
dbSNP gnomAD v2 gnomAD v4 COSMIC
18g.33743776G>CCA402188863ASXL3c.3931G>C (p.Glu1311Gln)
c.3928G>C (p.Glu1310Gln)
c.3808G>C (p.Glu1270Gln)
c.3904G>C (p.Glu1302Gln)
c.3850G>C (p.Glu1284Gln)
c.3811G>C (p.Glu1271Gln)
c.3760G>C (p.Glu1254Gln)
c.892G>C (p.Glu298Gln)
18g.33743776G=CA2294857834ASXL3c.3931G= (p.Glu1311=)
c.3928G= (p.Glu1310=)
c.3808G= (p.Glu1270=)
c.3904G= (p.Glu1302=)
c.3850G= (p.Glu1284=)
c.3811G= (p.Glu1271=)
c.3760G= (p.Glu1254=)
c.892G= (p.Glu298=)
18g.33743776G>TCA402188865ASXL3c.3931G>T (p.Glu1311Ter)
c.3928G>T (p.Glu1310Ter)
c.3808G>T (p.Glu1270Ter)
c.3904G>T (p.Glu1302Ter)
c.3850G>T (p.Glu1284Ter)
c.3811G>T (p.Glu1271Ter)
c.3760G>T (p.Glu1254Ter)
c.892G>T (p.Glu298Ter)
18g.33743777A=CA2294857835ASXL3c.3932A= (p.Glu1311=)
c.3929A= (p.Glu1310=)
c.3809A= (p.Glu1270=)
c.3905A= (p.Glu1302=)
c.3851A= (p.Glu1284=)
c.3812A= (p.Glu1271=)
c.3761A= (p.Glu1254=)
c.893A= (p.Glu298=)
18g.33743777A>CCA8934141ASXL3c.3932A>C (p.Glu1311Ala)
c.3929A>C (p.Glu1310Ala)
c.3809A>C (p.Glu1270Ala)
c.3905A>C (p.Glu1302Ala)
c.3851A>C (p.Glu1284Ala)
c.3812A>C (p.Glu1271Ala)
c.3761A>C (p.Glu1254Ala)
c.893A>C (p.Glu298Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743777A>GCA402188872ASXL3c.3932A>G (p.Glu1311Gly)
c.3929A>G (p.Glu1310Gly)
c.3809A>G (p.Glu1270Gly)
c.3905A>G (p.Glu1302Gly)
c.3851A>G (p.Glu1284Gly)
c.3812A>G (p.Glu1271Gly)
c.3761A>G (p.Glu1254Gly)
c.893A>G (p.Glu298Gly)
dbSNP gnomAD v3 gnomAD v4
18g.33743777A>TCA402188874ASXL3c.3932A>T (p.Glu1311Val)
c.3929A>T (p.Glu1310Val)
c.3809A>T (p.Glu1270Val)
c.3905A>T (p.Glu1302Val)
c.3851A>T (p.Glu1284Val)
c.3812A>T (p.Glu1271Val)
c.3761A>T (p.Glu1254Val)
c.893A>T (p.Glu298Val)
18g.33743778G>ACA503770004ASXL3c.3933G>A (p.Glu1311=)
c.3930G>A (p.Glu1310=)
c.3810G>A (p.Glu1270=)
c.3906G>A (p.Glu1302=)
c.3852G>A (p.Glu1284=)
c.3813G>A (p.Glu1271=)
c.3762G>A (p.Glu1254=)
c.894G>A (p.Glu298=)
dbSNP
18g.33743778G>CCA402188877ASXL3c.3933G>C (p.Glu1311Asp)
c.3930G>C (p.Glu1310Asp)
c.3810G>C (p.Glu1270Asp)
c.3906G>C (p.Glu1302Asp)
c.3852G>C (p.Glu1284Asp)
c.3813G>C (p.Glu1271Asp)
c.3762G>C (p.Glu1254Asp)
c.894G>C (p.Glu298Asp)
18g.33743778G=CA2294857836ASXL3c.3933G= (p.Glu1311=)
c.3930G= (p.Glu1310=)
c.3810G= (p.Glu1270=)
c.3906G= (p.Glu1302=)
c.3852G= (p.Glu1284=)
c.3813G= (p.Glu1271=)
c.3762G= (p.Glu1254=)
c.894G= (p.Glu298=)
18g.33743778G>TCA402188878ASXL3c.3933G>T (p.Glu1311Asp)
c.3930G>T (p.Glu1310Asp)
c.3810G>T (p.Glu1270Asp)
c.3906G>T (p.Glu1302Asp)
c.3852G>T (p.Glu1284Asp)
c.3813G>T (p.Glu1271Asp)
c.3762G>T (p.Glu1254Asp)
c.894G>T (p.Glu298Asp)
18g.33743779G>ACA402188879ASXL3c.3934G>A (p.Gly1312Ser)
c.3931G>A (p.Gly1311Ser)
c.3811G>A (p.Gly1271Ser)
c.3907G>A (p.Gly1303Ser)
c.3853G>A (p.Gly1285Ser)
c.3814G>A (p.Gly1272Ser)
c.3763G>A (p.Gly1255Ser)
c.895G>A (p.Gly299Ser)
gnomAD v4
18g.33743779G>CCA402188880ASXL3c.3934G>C (p.Gly1312Arg)
c.3931G>C (p.Gly1311Arg)
c.3811G>C (p.Gly1271Arg)
c.3907G>C (p.Gly1303Arg)
c.3853G>C (p.Gly1285Arg)
c.3814G>C (p.Gly1272Arg)
c.3763G>C (p.Gly1255Arg)
c.895G>C (p.Gly299Arg)
18g.33743779G>TCA402188882ASXL3c.3934G>T (p.Gly1312Cys)
c.3931G>T (p.Gly1311Cys)
c.3811G>T (p.Gly1271Cys)
c.3907G>T (p.Gly1303Cys)
c.3853G>T (p.Gly1285Cys)
c.3814G>T (p.Gly1272Cys)
c.3763G>T (p.Gly1255Cys)
c.895G>T (p.Gly299Cys)
18g.33743780G>ACA8934142ASXL3c.3935G>A (p.Gly1312Asp)
c.3932G>A (p.Gly1311Asp)
c.3812G>A (p.Gly1271Asp)
c.3908G>A (p.Gly1303Asp)
c.3854G>A (p.Gly1285Asp)
c.3815G>A (p.Gly1272Asp)
c.3764G>A (p.Gly1255Asp)
c.896G>A (p.Gly299Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743780G>CCA402188884ASXL3c.3935G>C (p.Gly1312Ala)
c.3932G>C (p.Gly1311Ala)
c.3812G>C (p.Gly1271Ala)
c.3908G>C (p.Gly1303Ala)
c.3854G>C (p.Gly1285Ala)
c.3815G>C (p.Gly1272Ala)
c.3764G>C (p.Gly1255Ala)
c.896G>C (p.Gly299Ala)
18g.33743780G=CA2294857837ASXL3c.3935G= (p.Gly1312=)
c.3932G= (p.Gly1311=)
c.3812G= (p.Gly1271=)
c.3908G= (p.Gly1303=)
c.3854G= (p.Gly1285=)
c.3815G= (p.Gly1272=)
c.3764G= (p.Gly1255=)
c.896G= (p.Gly299=)
18g.33743780G>TCA402188886ASXL3c.3935G>T (p.Gly1312Val)
c.3932G>T (p.Gly1311Val)
c.3812G>T (p.Gly1271Val)
c.3908G>T (p.Gly1303Val)
c.3854G>T (p.Gly1285Val)
c.3815G>T (p.Gly1272Val)
c.3764G>T (p.Gly1255Val)
c.896G>T (p.Gly299Val)
18g.33743781C>ACA503770016ASXL3c.3936C>A (p.Gly1312=)
c.3933C>A (p.Gly1311=)
c.3813C>A (p.Gly1271=)
c.3909C>A (p.Gly1303=)
c.3855C>A (p.Gly1285=)
c.3816C>A (p.Gly1272=)
c.3765C>A (p.Gly1255=)
c.897C>A (p.Gly299=)
COSMIC
18g.33743781C=CA2294857838ASXL3c.3936C= (p.Gly1312=)
c.3933C= (p.Gly1311=)
c.3813C= (p.Gly1271=)
c.3909C= (p.Gly1303=)
c.3855C= (p.Gly1285=)
c.3816C= (p.Gly1272=)
c.3765C= (p.Gly1255=)
c.897C= (p.Gly299=)
18g.33743781C>GCA503770021ASXL3c.3936C>G (p.Gly1312=)
c.3933C>G (p.Gly1311=)
c.3813C>G (p.Gly1271=)
c.3909C>G (p.Gly1303=)
c.3855C>G (p.Gly1285=)
c.3816C>G (p.Gly1272=)
c.3765C>G (p.Gly1255=)
c.897C>G (p.Gly299=)
18g.33743781C>TCA503770018ASXL3c.3936C>T (p.Gly1312=)
c.3933C>T (p.Gly1311=)
c.3813C>T (p.Gly1271=)
c.3909C>T (p.Gly1303=)
c.3855C>T (p.Gly1285=)
c.3816C>T (p.Gly1272=)
c.3765C>T (p.Gly1255=)
c.897C>T (p.Gly299=)
dbSNP gnomAD v3 gnomAD v4
18g.33743782T>ACA402188890ASXL3c.3937T>A (p.Ser1313Thr)
c.3934T>A (p.Ser1312Thr)
c.3814T>A (p.Ser1272Thr)
c.3910T>A (p.Ser1304Thr)
c.3856T>A (p.Ser1286Thr)
c.3817T>A (p.Ser1273Thr)
c.3766T>A (p.Ser1256Thr)
c.898T>A (p.Ser300Thr)
18g.33743782T>CCA402188892ASXL3c.3937T>C (p.Ser1313Pro)
c.3934T>C (p.Ser1312Pro)
c.3814T>C (p.Ser1272Pro)
c.3910T>C (p.Ser1304Pro)
c.3856T>C (p.Ser1286Pro)
c.3817T>C (p.Ser1273Pro)
c.3766T>C (p.Ser1256Pro)
c.898T>C (p.Ser300Pro)
18g.33743782T>GCA402188896ASXL3c.3937T>G (p.Ser1313Ala)
c.3934T>G (p.Ser1312Ala)
c.3814T>G (p.Ser1272Ala)
c.3910T>G (p.Ser1304Ala)
c.3856T>G (p.Ser1286Ala)
c.3817T>G (p.Ser1273Ala)
c.3766T>G (p.Ser1256Ala)
c.898T>G (p.Ser300Ala)
18g.33743783C>ACA402188899ASXL3c.3938C>A (p.Ser1313Tyr)
c.3935C>A (p.Ser1312Tyr)
c.3815C>A (p.Ser1272Tyr)
c.3911C>A (p.Ser1304Tyr)
c.3857C>A (p.Ser1286Tyr)
c.3818C>A (p.Ser1273Tyr)
c.3767C>A (p.Ser1256Tyr)
c.899C>A (p.Ser300Tyr)
18g.33743783C=CA2294857839ASXL3c.3938C= (p.Ser1313=)
c.3935C= (p.Ser1312=)
c.3815C= (p.Ser1272=)
c.3911C= (p.Ser1304=)
c.3857C= (p.Ser1286=)
c.3818C= (p.Ser1273=)
c.3767C= (p.Ser1256=)
c.899C= (p.Ser300=)
18g.33743783C>GCA402188901ASXL3c.3938C>G (p.Ser1313Cys)
c.3935C>G (p.Ser1312Cys)
c.3815C>G (p.Ser1272Cys)
c.3911C>G (p.Ser1304Cys)
c.3857C>G (p.Ser1286Cys)
c.3818C>G (p.Ser1273Cys)
c.3767C>G (p.Ser1256Cys)
c.899C>G (p.Ser300Cys)
gnomAD v4
18g.33743783C>TCA402188904ASXL3c.3938C>T (p.Ser1313Phe)
c.3935C>T (p.Ser1312Phe)
c.3815C>T (p.Ser1272Phe)
c.3911C>T (p.Ser1304Phe)
c.3857C>T (p.Ser1286Phe)
c.3818C>T (p.Ser1273Phe)
c.3767C>T (p.Ser1256Phe)
c.899C>T (p.Ser300Phe)
dbSNP
18g.33743784delCA645603028ASXL3c.3939del (p.Ser1314AlafsTer12)
c.3936del (p.Ser1313AlafsTer12)
c.3816del (p.Ser1273AlafsTer12)
c.3912del (p.Ser1305AlafsTer12)
c.3858del (p.Ser1287AlafsTer12)
c.3819del (p.Ser1274AlafsTer12)
c.3768del (p.Ser1257AlafsTer12)
c.900del (p.Ser301AlafsTer12)
COSMIC
18g.33743784C>ACA503770031ASXL3c.3939C>A (p.Ser1313=)
c.3936C>A (p.Ser1312=)
c.3816C>A (p.Ser1272=)
c.3912C>A (p.Ser1304=)
c.3858C>A (p.Ser1286=)
c.3819C>A (p.Ser1273=)
c.3768C>A (p.Ser1256=)
c.900C>A (p.Ser300=)
18g.33743784C>GCA503770032ASXL3c.3939C>G (p.Ser1313=)
c.3936C>G (p.Ser1312=)
c.3816C>G (p.Ser1272=)
c.3912C>G (p.Ser1304=)
c.3858C>G (p.Ser1286=)
c.3819C>G (p.Ser1273=)
c.3768C>G (p.Ser1256=)
c.900C>G (p.Ser300=)
18g.33743784C>TCA503770033ASXL3c.3939C>T (p.Ser1313=)
c.3936C>T (p.Ser1312=)
c.3816C>T (p.Ser1272=)
c.3912C>T (p.Ser1304=)
c.3858C>T (p.Ser1286=)
c.3819C>T (p.Ser1273=)
c.3768C>T (p.Ser1256=)
c.900C>T (p.Ser300=)
gnomAD v4
18g.33743785A=CA2294857840ASXL3c.3940A= (p.Ser1314=)
c.3937A= (p.Ser1313=)
c.3817A= (p.Ser1273=)
c.3913A= (p.Ser1305=)
c.3859A= (p.Ser1287=)
c.3820A= (p.Ser1274=)
c.3769A= (p.Ser1257=)
c.901A= (p.Ser301=)
18g.33743785A>CCA297793231ASXL3c.3940A>C (p.Ser1314Arg)
c.3937A>C (p.Ser1313Arg)
c.3817A>C (p.Ser1273Arg)
c.3913A>C (p.Ser1305Arg)
c.3859A>C (p.Ser1287Arg)
c.3820A>C (p.Ser1274Arg)
c.3769A>C (p.Ser1257Arg)
c.901A>C (p.Ser301Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743785A>GCA402188916ASXL3c.3940A>G (p.Ser1314Gly)
c.3937A>G (p.Ser1313Gly)
c.3817A>G (p.Ser1273Gly)
c.3913A>G (p.Ser1305Gly)
c.3859A>G (p.Ser1287Gly)
c.3820A>G (p.Ser1274Gly)
c.3769A>G (p.Ser1257Gly)
c.901A>G (p.Ser301Gly)
18g.33743785A>TCA402188912ASXL3c.3940A>T (p.Ser1314Cys)
c.3937A>T (p.Ser1313Cys)
c.3817A>T (p.Ser1273Cys)
c.3913A>T (p.Ser1305Cys)
c.3859A>T (p.Ser1287Cys)
c.3820A>T (p.Ser1274Cys)
c.3769A>T (p.Ser1257Cys)
c.901A>T (p.Ser301Cys)
18g.33743786G>ACA402188920ASXL3c.3941G>A (p.Ser1314Asn)
c.3938G>A (p.Ser1313Asn)
c.3818G>A (p.Ser1273Asn)
c.3914G>A (p.Ser1305Asn)
c.3860G>A (p.Ser1287Asn)
c.3821G>A (p.Ser1274Asn)
c.3770G>A (p.Ser1257Asn)
c.902G>A (p.Ser301Asn)
18g.33743786G>CCA402188925ASXL3c.3941G>C (p.Ser1314Thr)
c.3938G>C (p.Ser1313Thr)
c.3818G>C (p.Ser1273Thr)
c.3914G>C (p.Ser1305Thr)
c.3860G>C (p.Ser1287Thr)
c.3821G>C (p.Ser1274Thr)
c.3770G>C (p.Ser1257Thr)
c.902G>C (p.Ser301Thr)
18g.33743786G>TCA402188923ASXL3c.3941G>T (p.Ser1314Ile)
c.3938G>T (p.Ser1313Ile)
c.3818G>T (p.Ser1273Ile)
c.3914G>T (p.Ser1305Ile)
c.3860G>T (p.Ser1287Ile)
c.3821G>T (p.Ser1274Ile)
c.3770G>T (p.Ser1257Ile)
c.902G>T (p.Ser301Ile)
gnomAD v4
18g.33743787C>ACA402188927ASXL3c.3942C>A (p.Ser1314Arg)
c.3939C>A (p.Ser1313Arg)
c.3819C>A (p.Ser1273Arg)
c.3915C>A (p.Ser1305Arg)
c.3861C>A (p.Ser1287Arg)
c.3822C>A (p.Ser1274Arg)
c.3771C>A (p.Ser1257Arg)
c.903C>A (p.Ser301Arg)
18g.33743787C>GCA402188931ASXL3c.3942C>G (p.Ser1314Arg)
c.3939C>G (p.Ser1313Arg)
c.3819C>G (p.Ser1273Arg)
c.3915C>G (p.Ser1305Arg)
c.3861C>G (p.Ser1287Arg)
c.3822C>G (p.Ser1274Arg)
c.3771C>G (p.Ser1257Arg)
c.903C>G (p.Ser301Arg)
18g.33743787C>TCA503770047ASXL3c.3942C>T (p.Ser1314=)
c.3939C>T (p.Ser1313=)
c.3819C>T (p.Ser1273=)
c.3915C>T (p.Ser1305=)
c.3861C>T (p.Ser1287=)
c.3822C>T (p.Ser1274=)
c.3771C>T (p.Ser1257=)
c.903C>T (p.Ser301=)
18g.33743788A=CA2294857841ASXL3c.3943A= (p.Ile1315=)
c.3940A= (p.Ile1314=)
c.3820A= (p.Ile1274=)
c.3916A= (p.Ile1306=)
c.3862A= (p.Ile1288=)
c.3823A= (p.Ile1275=)
c.3772A= (p.Ile1258=)
c.904A= (p.Ile302=)
18g.33743788A>CCA402188935ASXL3c.3943A>C (p.Ile1315Leu)
c.3940A>C (p.Ile1314Leu)
c.3820A>C (p.Ile1274Leu)
c.3916A>C (p.Ile1306Leu)
c.3862A>C (p.Ile1288Leu)
c.3823A>C (p.Ile1275Leu)
c.3772A>C (p.Ile1258Leu)
c.904A>C (p.Ile302Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743788A>GCA8934143ASXL3c.3943A>G (p.Ile1315Val)
c.3940A>G (p.Ile1314Val)
c.3820A>G (p.Ile1274Val)
c.3916A>G (p.Ile1306Val)
c.3862A>G (p.Ile1288Val)
c.3823A>G (p.Ile1275Val)
c.3772A>G (p.Ile1258Val)
c.904A>G (p.Ile302Val)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743788A>TCA402188938ASXL3c.3943A>T (p.Ile1315Leu)
c.3940A>T (p.Ile1314Leu)
c.3820A>T (p.Ile1274Leu)
c.3916A>T (p.Ile1306Leu)
c.3862A>T (p.Ile1288Leu)
c.3823A>T (p.Ile1275Leu)
c.3772A>T (p.Ile1258Leu)
c.904A>T (p.Ile302Leu)
18g.33743788_33743791delCA2535609441ASXL3c.3943_3946del (p.Ile1315GlnfsTer10)
c.3940_3943del (p.Ile1314GlnfsTer10)
c.3820_3823del (p.Ile1274GlnfsTer10)
c.3916_3919del (p.Ile1306GlnfsTer10)
c.3862_3865del (p.Ile1288GlnfsTer10)
c.3823_3826del (p.Ile1275GlnfsTer10)
c.3772_3775del (p.Ile1258GlnfsTer10)
c.904_907del (p.Ile302GlnfsTer10)
18g.33743789T>ACA402188941ASXL3c.3944T>A (p.Ile1315Lys)
c.3941T>A (p.Ile1314Lys)
c.3821T>A (p.Ile1274Lys)
c.3917T>A (p.Ile1306Lys)
c.3863T>A (p.Ile1288Lys)
c.3824T>A (p.Ile1275Lys)
c.3773T>A (p.Ile1258Lys)
c.905T>A (p.Ile302Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743789T>CCA402188943ASXL3c.3944T>C (p.Ile1315Thr)
c.3941T>C (p.Ile1314Thr)
c.3821T>C (p.Ile1274Thr)
c.3917T>C (p.Ile1306Thr)
c.3863T>C (p.Ile1288Thr)
c.3824T>C (p.Ile1275Thr)
c.3773T>C (p.Ile1258Thr)
c.905T>C (p.Ile302Thr)
dbSNP gnomAD v4
18g.33743789T>GCA402188945ASXL3c.3944T>G (p.Ile1315Arg)
c.3941T>G (p.Ile1314Arg)
c.3821T>G (p.Ile1274Arg)
c.3917T>G (p.Ile1306Arg)
c.3863T>G (p.Ile1288Arg)
c.3824T>G (p.Ile1275Arg)
c.3773T>G (p.Ile1258Arg)
c.905T>G (p.Ile302Arg)
18g.33743789T=CA2294857842ASXL3c.3944T= (p.Ile1315=)
c.3941T= (p.Ile1314=)
c.3821T= (p.Ile1274=)
c.3917T= (p.Ile1306=)
c.3863T= (p.Ile1288=)
c.3824T= (p.Ile1275=)
c.3773T= (p.Ile1258=)
c.905T= (p.Ile302=)
18g.33743790A=CA2294857843ASXL3c.3945A= (p.Ile1315=)
c.3942A= (p.Ile1314=)
c.3822A= (p.Ile1274=)
c.3918A= (p.Ile1306=)
c.3864A= (p.Ile1288=)
c.3825A= (p.Ile1275=)
c.3774A= (p.Ile1258=)
c.906A= (p.Ile302=)
18g.33743790A>CCA503770054ASXL3c.3945A>C (p.Ile1315=)
c.3942A>C (p.Ile1314=)
c.3822A>C (p.Ile1274=)
c.3918A>C (p.Ile1306=)
c.3864A>C (p.Ile1288=)
c.3825A>C (p.Ile1275=)
c.3774A>C (p.Ile1258=)
c.906A>C (p.Ile302=)
18g.33743790A>GCA402188947ASXL3c.3945A>G (p.Ile1315Met)
c.3942A>G (p.Ile1314Met)
c.3822A>G (p.Ile1274Met)
c.3918A>G (p.Ile1306Met)
c.3864A>G (p.Ile1288Met)
c.3825A>G (p.Ile1275Met)
c.3774A>G (p.Ile1258Met)
c.906A>G (p.Ile302Met)
dbSNP
18g.33743790A>TCA503770056ASXL3c.3945A>T (p.Ile1315=)
c.3942A>T (p.Ile1314=)
c.3822A>T (p.Ile1274=)
c.3918A>T (p.Ile1306=)
c.3864A>T (p.Ile1288=)
c.3825A>T (p.Ile1275=)
c.3774A>T (p.Ile1258=)
c.906A>T (p.Ile302=)
18g.33743791T>ACA402188950ASXL3c.3946T>A (p.Ser1316Thr)
c.3943T>A (p.Ser1315Thr)
c.3823T>A (p.Ser1275Thr)
c.3919T>A (p.Ser1307Thr)
c.3865T>A (p.Ser1289Thr)
c.3826T>A (p.Ser1276Thr)
c.3775T>A (p.Ser1259Thr)
c.907T>A (p.Ser303Thr)
18g.33743791T>CCA402188954ASXL3c.3946T>C (p.Ser1316Pro)
c.3943T>C (p.Ser1315Pro)
c.3823T>C (p.Ser1275Pro)
c.3919T>C (p.Ser1307Pro)
c.3865T>C (p.Ser1289Pro)
c.3826T>C (p.Ser1276Pro)
c.3775T>C (p.Ser1259Pro)
c.907T>C (p.Ser303Pro)
18g.33743791T>GCA402188957ASXL3c.3946T>G (p.Ser1316Ala)
c.3943T>G (p.Ser1315Ala)
c.3823T>G (p.Ser1275Ala)
c.3919T>G (p.Ser1307Ala)
c.3865T>G (p.Ser1289Ala)
c.3826T>G (p.Ser1276Ala)
c.3775T>G (p.Ser1259Ala)
c.907T>G (p.Ser303Ala)
18g.33743792C>ACA402188965ASXL3c.3947C>A (p.Ser1316Ter)
c.3944C>A (p.Ser1315Ter)
c.3824C>A (p.Ser1275Ter)
c.3920C>A (p.Ser1307Ter)
c.3866C>A (p.Ser1289Ter)
c.3827C>A (p.Ser1276Ter)
c.3776C>A (p.Ser1259Ter)
c.908C>A (p.Ser303Ter)
18g.33743792C=CA2294857844ASXL3c.3947C= (p.Ser1316=)
c.3944C= (p.Ser1315=)
c.3824C= (p.Ser1275=)
c.3920C= (p.Ser1307=)
c.3866C= (p.Ser1289=)
c.3827C= (p.Ser1276=)
c.3776C= (p.Ser1259=)
c.908C= (p.Ser303=)
18g.33743792C>GCA402188961ASXL3c.3947C>G (p.Ser1316Ter)
c.3944C>G (p.Ser1315Ter)
c.3824C>G (p.Ser1275Ter)
c.3920C>G (p.Ser1307Ter)
c.3866C>G (p.Ser1289Ter)
c.3827C>G (p.Ser1276Ter)
c.3776C>G (p.Ser1259Ter)
c.908C>G (p.Ser303Ter)
ClinVar dbSNP
18g.33743792C>TCA297793237ASXL3c.3947C>T (p.Ser1316Leu)
c.3944C>T (p.Ser1315Leu)
c.3824C>T (p.Ser1275Leu)
c.3920C>T (p.Ser1307Leu)
c.3866C>T (p.Ser1289Leu)
c.3827C>T (p.Ser1276Leu)
c.3776C>T (p.Ser1259Leu)
c.908C>T (p.Ser303Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743793A>CCA503770069ASXL3c.3948A>C (p.Ser1316=)
c.3945A>C (p.Ser1315=)
c.3825A>C (p.Ser1275=)
c.3921A>C (p.Ser1307=)
c.3867A>C (p.Ser1289=)
c.3828A>C (p.Ser1276=)
c.3777A>C (p.Ser1259=)
c.909A>C (p.Ser303=)
18g.33743793A>GCA503770070ASXL3c.3948A>G (p.Ser1316=)
c.3945A>G (p.Ser1315=)
c.3825A>G (p.Ser1275=)
c.3921A>G (p.Ser1307=)
c.3867A>G (p.Ser1289=)
c.3828A>G (p.Ser1276=)
c.3777A>G (p.Ser1259=)
c.909A>G (p.Ser303=)
18g.33743793A>TCA503770071ASXL3c.3948A>T (p.Ser1316=)
c.3945A>T (p.Ser1315=)
c.3825A>T (p.Ser1275=)
c.3921A>T (p.Ser1307=)
c.3867A>T (p.Ser1289=)
c.3828A>T (p.Ser1276=)
c.3777A>T (p.Ser1259=)
c.909A>T (p.Ser303=)
18g.33743793_33743794insGGTGCA2540531965ASXL3c.3948_3949insGGTG (p.Ser1317GlyfsTer6)
c.3945_3946insGGTG (p.Ser1316GlyfsTer6)
c.3825_3826insGGTG (p.Ser1276GlyfsTer6)
c.3921_3922insGGTG (p.Ser1308GlyfsTer6)
c.3867_3868insGGTG (p.Ser1290GlyfsTer6)
c.3828_3829insGGTG (p.Ser1277GlyfsTer6)
c.3777_3778insGGTG (p.Ser1260GlyfsTer6)
c.909_910insGGTG (p.Ser304GlyfsTer6)
18g.33743794A>CCA402188969ASXL3c.3949A>C (p.Ser1317Arg)
c.3946A>C (p.Ser1316Arg)
c.3826A>C (p.Ser1276Arg)
c.3922A>C (p.Ser1308Arg)
c.3868A>C (p.Ser1290Arg)
c.3829A>C (p.Ser1277Arg)
c.3778A>C (p.Ser1260Arg)
c.910A>C (p.Ser304Arg)
18g.33743794A>GCA402188972ASXL3c.3949A>G (p.Ser1317Gly)
c.3946A>G (p.Ser1316Gly)
c.3826A>G (p.Ser1276Gly)
c.3922A>G (p.Ser1308Gly)
c.3868A>G (p.Ser1290Gly)
c.3829A>G (p.Ser1277Gly)
c.3778A>G (p.Ser1260Gly)
c.910A>G (p.Ser304Gly)
gnomAD v4
18g.33743794A>TCA402188975ASXL3c.3949A>T (p.Ser1317Cys)
c.3946A>T (p.Ser1316Cys)
c.3826A>T (p.Ser1276Cys)
c.3922A>T (p.Ser1308Cys)
c.3868A>T (p.Ser1290Cys)
c.3829A>T (p.Ser1277Cys)
c.3778A>T (p.Ser1260Cys)
c.910A>T (p.Ser304Cys)
18g.33743795G>ACA8934144ASXL3c.3950G>A (p.Ser1317Asn)
c.3947G>A (p.Ser1316Asn)
c.3827G>A (p.Ser1276Asn)
c.3923G>A (p.Ser1308Asn)
c.3869G>A (p.Ser1290Asn)
c.3830G>A (p.Ser1277Asn)
c.3779G>A (p.Ser1260Asn)
c.911G>A (p.Ser304Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743795G>CCA402188982ASXL3c.3950G>C (p.Ser1317Thr)
c.3947G>C (p.Ser1316Thr)
c.3827G>C (p.Ser1276Thr)
c.3923G>C (p.Ser1308Thr)
c.3869G>C (p.Ser1290Thr)
c.3830G>C (p.Ser1277Thr)
c.3779G>C (p.Ser1260Thr)
c.911G>C (p.Ser304Thr)
gnomAD v4
18g.33743795G=CA2294857845ASXL3c.3950G= (p.Ser1317=)
c.3947G= (p.Ser1316=)
c.3827G= (p.Ser1276=)
c.3923G= (p.Ser1308=)
c.3869G= (p.Ser1290=)
c.3830G= (p.Ser1277=)
c.3779G= (p.Ser1260=)
c.911G= (p.Ser304=)
18g.33743795G>TCA402188984ASXL3c.3950G>T (p.Ser1317Ile)
c.3947G>T (p.Ser1316Ile)
c.3827G>T (p.Ser1276Ile)
c.3923G>T (p.Ser1308Ile)
c.3869G>T (p.Ser1290Ile)
c.3830G>T (p.Ser1277Ile)
c.3779G>T (p.Ser1260Ile)
c.911G>T (p.Ser304Ile)
gnomAD v4
18g.33743796C>ACA402188986ASXL3c.3951C>A (p.Ser1317Arg)
c.3948C>A (p.Ser1316Arg)
c.3828C>A (p.Ser1276Arg)
c.3924C>A (p.Ser1308Arg)
c.3870C>A (p.Ser1290Arg)
c.3831C>A (p.Ser1277Arg)
c.3780C>A (p.Ser1260Arg)
c.912C>A (p.Ser304Arg)
18g.33743796C=CA2294857846ASXL3c.3951C= (p.Ser1317=)
c.3948C= (p.Ser1316=)
c.3828C= (p.Ser1276=)
c.3924C= (p.Ser1308=)
c.3870C= (p.Ser1290=)
c.3831C= (p.Ser1277=)
c.3780C= (p.Ser1260=)
c.912C= (p.Ser304=)
18g.33743796C>GCA402188989ASXL3c.3951C>G (p.Ser1317Arg)
c.3948C>G (p.Ser1316Arg)
c.3828C>G (p.Ser1276Arg)
c.3924C>G (p.Ser1308Arg)
c.3870C>G (p.Ser1290Arg)
c.3831C>G (p.Ser1277Arg)
c.3780C>G (p.Ser1260Arg)
c.912C>G (p.Ser304Arg)
18g.33743796C>TCA503770077ASXL3c.3951C>T (p.Ser1317=)
c.3948C>T (p.Ser1316=)
c.3828C>T (p.Ser1276=)
c.3924C>T (p.Ser1308=)
c.3870C>T (p.Ser1290=)
c.3831C>T (p.Ser1277=)
c.3780C>T (p.Ser1260=)
c.912C>T (p.Ser304=)
dbSNP
18g.33743797T>ACA402188993ASXL3c.3952T>A (p.Ser1318Thr)
c.3949T>A (p.Ser1317Thr)
c.3829T>A (p.Ser1277Thr)
c.3925T>A (p.Ser1309Thr)
c.3871T>A (p.Ser1291Thr)
c.3832T>A (p.Ser1278Thr)
c.3781T>A (p.Ser1261Thr)
c.913T>A (p.Ser305Thr)
18g.33743797T>CCA402188996ASXL3c.3952T>C (p.Ser1318Pro)
c.3949T>C (p.Ser1317Pro)
c.3829T>C (p.Ser1277Pro)
c.3925T>C (p.Ser1309Pro)
c.3871T>C (p.Ser1291Pro)
c.3832T>C (p.Ser1278Pro)
c.3781T>C (p.Ser1261Pro)
c.913T>C (p.Ser305Pro)
gnomAD v4
18g.33743797T>GCA402188999ASXL3c.3952T>G (p.Ser1318Ala)
c.3949T>G (p.Ser1317Ala)
c.3829T>G (p.Ser1277Ala)
c.3925T>G (p.Ser1309Ala)
c.3871T>G (p.Ser1291Ala)
c.3832T>G (p.Ser1278Ala)
c.3781T>G (p.Ser1261Ala)
c.913T>G (p.Ser305Ala)
18g.33743798C>ACA402189007ASXL3c.3953C>A (p.Ser1318Tyr)
c.3950C>A (p.Ser1317Tyr)
c.3830C>A (p.Ser1277Tyr)
c.3926C>A (p.Ser1309Tyr)
c.3872C>A (p.Ser1291Tyr)
c.3833C>A (p.Ser1278Tyr)
c.3782C>A (p.Ser1261Tyr)
c.914C>A (p.Ser305Tyr)
18g.33743798C>GCA402189005ASXL3c.3953C>G (p.Ser1318Cys)
c.3950C>G (p.Ser1317Cys)
c.3830C>G (p.Ser1277Cys)
c.3926C>G (p.Ser1309Cys)
c.3872C>G (p.Ser1291Cys)
c.3833C>G (p.Ser1278Cys)
c.3782C>G (p.Ser1261Cys)
c.914C>G (p.Ser305Cys)
18g.33743798C>TCA402189002ASXL3c.3953C>T (p.Ser1318Phe)
c.3950C>T (p.Ser1317Phe)
c.3830C>T (p.Ser1277Phe)
c.3926C>T (p.Ser1309Phe)
c.3872C>T (p.Ser1291Phe)
c.3833C>T (p.Ser1278Phe)
c.3782C>T (p.Ser1261Phe)
c.914C>T (p.Ser305Phe)
18g.33743799C>ACA503770091ASXL3c.3954C>A (p.Ser1318=)
c.3951C>A (p.Ser1317=)
c.3831C>A (p.Ser1277=)
c.3927C>A (p.Ser1309=)
c.3873C>A (p.Ser1291=)
c.3834C>A (p.Ser1278=)
c.3783C>A (p.Ser1261=)
c.915C>A (p.Ser305=)
18g.33743799C>GCA503770092ASXL3c.3954C>G (p.Ser1318=)
c.3951C>G (p.Ser1317=)
c.3831C>G (p.Ser1277=)
c.3927C>G (p.Ser1309=)
c.3873C>G (p.Ser1291=)
c.3834C>G (p.Ser1278=)
c.3783C>G (p.Ser1261=)
c.915C>G (p.Ser305=)
18g.33743799C>TCA503770094ASXL3c.3954C>T (p.Ser1318=)
c.3951C>T (p.Ser1317=)
c.3831C>T (p.Ser1277=)
c.3927C>T (p.Ser1309=)
c.3873C>T (p.Ser1291=)
c.3834C>T (p.Ser1278=)
c.3783C>T (p.Ser1261=)
c.915C>T (p.Ser305=)
COSMIC
18g.33743800A=CA2294857847ASXL3c.3955A= (p.Met1319=)
c.3952A= (p.Met1318=)
c.3832A= (p.Met1278=)
c.3928A= (p.Met1310=)
c.3874A= (p.Met1292=)
c.3835A= (p.Met1279=)
c.3784A= (p.Met1262=)
c.916A= (p.Met306=)
18g.33743800A>CCA402189011ASXL3c.3955A>C (p.Met1319Leu)
c.3952A>C (p.Met1318Leu)
c.3832A>C (p.Met1278Leu)
c.3928A>C (p.Met1310Leu)
c.3874A>C (p.Met1292Leu)
c.3835A>C (p.Met1279Leu)
c.3784A>C (p.Met1262Leu)
c.916A>C (p.Met306Leu)
18g.33743800A>GCA8934145ASXL3c.3955A>G (p.Met1319Val)
c.3952A>G (p.Met1318Val)
c.3832A>G (p.Met1278Val)
c.3928A>G (p.Met1310Val)
c.3874A>G (p.Met1292Val)
c.3835A>G (p.Met1279Val)
c.3784A>G (p.Met1262Val)
c.916A>G (p.Met306Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743800A>TCA402189017ASXL3c.3955A>T (p.Met1319Leu)
c.3952A>T (p.Met1318Leu)
c.3832A>T (p.Met1278Leu)
c.3928A>T (p.Met1310Leu)
c.3874A>T (p.Met1292Leu)
c.3835A>T (p.Met1279Leu)
c.3784A>T (p.Met1262Leu)
c.916A>T (p.Met306Leu)
18g.33743801T>ACA402189022ASXL3c.3956T>A (p.Met1319Lys)
c.3953T>A (p.Met1318Lys)
c.3833T>A (p.Met1278Lys)
c.3929T>A (p.Met1310Lys)
c.3875T>A (p.Met1292Lys)
c.3836T>A (p.Met1279Lys)
c.3785T>A (p.Met1262Lys)
c.917T>A (p.Met306Lys)
18g.33743801T>CCA402189024ASXL3c.3956T>C (p.Met1319Thr)
c.3953T>C (p.Met1318Thr)
c.3833T>C (p.Met1278Thr)
c.3929T>C (p.Met1310Thr)
c.3875T>C (p.Met1292Thr)
c.3836T>C (p.Met1279Thr)
c.3785T>C (p.Met1262Thr)
c.917T>C (p.Met306Thr)
dbSNP
18g.33743801T>GCA402189027ASXL3c.3956T>G (p.Met1319Arg)
c.3953T>G (p.Met1318Arg)
c.3833T>G (p.Met1278Arg)
c.3929T>G (p.Met1310Arg)
c.3875T>G (p.Met1292Arg)
c.3836T>G (p.Met1279Arg)
c.3785T>G (p.Met1262Arg)
c.917T>G (p.Met306Arg)
18g.33743801T=CA2294857848ASXL3c.3956T= (p.Met1319=)
c.3953T= (p.Met1318=)
c.3833T= (p.Met1278=)
c.3929T= (p.Met1310=)
c.3875T= (p.Met1292=)
c.3836T= (p.Met1279=)
c.3785T= (p.Met1262=)
c.917T= (p.Met306=)
18g.33743802G>ACA402189031ASXL3c.3957G>A (p.Met1319Ile)
c.3954G>A (p.Met1318Ile)
c.3834G>A (p.Met1278Ile)
c.3930G>A (p.Met1310Ile)
c.3876G>A (p.Met1292Ile)
c.3837G>A (p.Met1279Ile)
c.3786G>A (p.Met1262Ile)
c.918G>A (p.Met306Ile)
dbSNP
18g.33743802G>CCA402189033ASXL3c.3957G>C (p.Met1319Ile)
c.3954G>C (p.Met1318Ile)
c.3834G>C (p.Met1278Ile)
c.3930G>C (p.Met1310Ile)
c.3876G>C (p.Met1292Ile)
c.3837G>C (p.Met1279Ile)
c.3786G>C (p.Met1262Ile)
c.918G>C (p.Met306Ile)
18g.33743802G=CA2294857849ASXL3c.3957G= (p.Met1319=)
c.3954G= (p.Met1318=)
c.3834G= (p.Met1278=)
c.3930G= (p.Met1310=)
c.3876G= (p.Met1292=)
c.3837G= (p.Met1279=)
c.3786G= (p.Met1262=)
c.918G= (p.Met306=)
18g.33743802G>TCA402189035ASXL3c.3957G>T (p.Met1319Ile)
c.3954G>T (p.Met1318Ile)
c.3834G>T (p.Met1278Ile)
c.3930G>T (p.Met1310Ile)
c.3876G>T (p.Met1292Ile)
c.3837G>T (p.Met1279Ile)
c.3786G>T (p.Met1262Ile)
c.918G>T (p.Met306Ile)
18g.33743803G>ACA402189049ASXL3c.3958G>A (p.Asp1320Asn)
c.3955G>A (p.Asp1319Asn)
c.3835G>A (p.Asp1279Asn)
c.3931G>A (p.Asp1311Asn)
c.3877G>A (p.Asp1293Asn)
c.3838G>A (p.Asp1280Asn)
c.3787G>A (p.Asp1263Asn)
c.919G>A (p.Asp307Asn)
gnomAD v4 COSMIC
18g.33743803G>CCA402189052ASXL3c.3958G>C (p.Asp1320His)
c.3955G>C (p.Asp1319His)
c.3835G>C (p.Asp1279His)
c.3931G>C (p.Asp1311His)
c.3877G>C (p.Asp1293His)
c.3838G>C (p.Asp1280His)
c.3787G>C (p.Asp1263His)
c.919G>C (p.Asp307His)
18g.33743803G=CA2294857850ASXL3c.3958G= (p.Asp1320=)
c.3955G= (p.Asp1319=)
c.3835G= (p.Asp1279=)
c.3931G= (p.Asp1311=)
c.3877G= (p.Asp1293=)
c.3838G= (p.Asp1280=)
c.3787G= (p.Asp1263=)
c.919G= (p.Asp307=)
18g.33743803G>TCA8934146ASXL3c.3958G>T (p.Asp1320Tyr)
c.3955G>T (p.Asp1319Tyr)
c.3835G>T (p.Asp1279Tyr)
c.3931G>T (p.Asp1311Tyr)
c.3877G>T (p.Asp1293Tyr)
c.3838G>T (p.Asp1280Tyr)
c.3787G>T (p.Asp1263Tyr)
c.919G>T (p.Asp307Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.33743804A>CCA402189065ASXL3c.3959A>C (p.Asp1320Ala)
c.3956A>C (p.Asp1319Ala)
c.3836A>C (p.Asp1279Ala)
c.3932A>C (p.Asp1311Ala)
c.3878A>C (p.Asp1293Ala)
c.3839A>C (p.Asp1280Ala)
c.3788A>C (p.Asp1263Ala)
c.920A>C (p.Asp307Ala)
18g.33743804A>GCA402189063ASXL3c.3959A>G (p.Asp1320Gly)
c.3956A>G (p.Asp1319Gly)
c.3836A>G (p.Asp1279Gly)
c.3932A>G (p.Asp1311Gly)
c.3878A>G (p.Asp1293Gly)
c.3839A>G (p.Asp1280Gly)
c.3788A>G (p.Asp1263Gly)
c.920A>G (p.Asp307Gly)
18g.33743804A>TCA402189060ASXL3c.3959A>T (p.Asp1320Val)
c.3956A>T (p.Asp1319Val)
c.3836A>T (p.Asp1279Val)
c.3932A>T (p.Asp1311Val)
c.3878A>T (p.Asp1293Val)
c.3839A>T (p.Asp1280Val)
c.3788A>T (p.Asp1263Val)
c.920A>T (p.Asp307Val)
18g.33743805T>ACA402189068ASXL3c.3960T>A (p.Asp1320Glu)
c.3957T>A (p.Asp1319Glu)
c.3837T>A (p.Asp1279Glu)
c.3933T>A (p.Asp1311Glu)
c.3879T>A (p.Asp1293Glu)
c.3840T>A (p.Asp1280Glu)
c.3789T>A (p.Asp1263Glu)
c.921T>A (p.Asp307Glu)
18g.33743805T>CCA503770124ASXL3c.3960T>C (p.Asp1320=)
c.3957T>C (p.Asp1319=)
c.3837T>C (p.Asp1279=)
c.3933T>C (p.Asp1311=)
c.3879T>C (p.Asp1293=)
c.3840T>C (p.Asp1280=)
c.3789T>C (p.Asp1263=)
c.921T>C (p.Asp307=)
gnomAD v4
18g.33743805T>GCA402189071ASXL3c.3960T>G (p.Asp1320Glu)
c.3957T>G (p.Asp1319Glu)
c.3837T>G (p.Asp1279Glu)
c.3933T>G (p.Asp1311Glu)
c.3879T>G (p.Asp1293Glu)
c.3840T>G (p.Asp1280Glu)
c.3789T>G (p.Asp1263Glu)
c.921T>G (p.Asp307Glu)
18g.33743806G>ACA297793253ASXL3c.3961G>A (p.Asp1321Asn)
c.3958G>A (p.Asp1320Asn)
c.3838G>A (p.Asp1280Asn)
c.3934G>A (p.Asp1312Asn)
c.3880G>A (p.Asp1294Asn)
c.3841G>A (p.Asp1281Asn)
c.3790G>A (p.Asp1264Asn)
c.922G>A (p.Asp308Asn)
dbSNP gnomAD v4 COSMIC
18g.33743806G>CCA402189077ASXL3c.3961G>C (p.Asp1321His)
c.3958G>C (p.Asp1320His)
c.3838G>C (p.Asp1280His)
c.3934G>C (p.Asp1312His)
c.3880G>C (p.Asp1294His)
c.3841G>C (p.Asp1281His)
c.3790G>C (p.Asp1264His)
c.922G>C (p.Asp308His)
18g.33743806G=CA2294857851ASXL3c.3961G= (p.Asp1321=)
c.3958G= (p.Asp1320=)
c.3838G= (p.Asp1280=)
c.3934G= (p.Asp1312=)
c.3880G= (p.Asp1294=)
c.3841G= (p.Asp1281=)
c.3790G= (p.Asp1264=)
c.922G= (p.Asp308=)
18g.33743806G>TCA402189079ASXL3c.3961G>T (p.Asp1321Tyr)
c.3958G>T (p.Asp1320Tyr)
c.3838G>T (p.Asp1280Tyr)
c.3934G>T (p.Asp1312Tyr)
c.3880G>T (p.Asp1294Tyr)
c.3841G>T (p.Asp1281Tyr)
c.3790G>T (p.Asp1264Tyr)
c.922G>T (p.Asp308Tyr)
18g.33743807A>CCA402189083ASXL3c.3962A>C (p.Asp1321Ala)
c.3959A>C (p.Asp1320Ala)
c.3839A>C (p.Asp1280Ala)
c.3935A>C (p.Asp1312Ala)
c.3881A>C (p.Asp1294Ala)
c.3842A>C (p.Asp1281Ala)
c.3791A>C (p.Asp1264Ala)
c.923A>C (p.Asp308Ala)
18g.33743807A>GCA402189086ASXL3c.3962A>G (p.Asp1321Gly)
c.3959A>G (p.Asp1320Gly)
c.3839A>G (p.Asp1280Gly)
c.3935A>G (p.Asp1312Gly)
c.3881A>G (p.Asp1294Gly)
c.3842A>G (p.Asp1281Gly)
c.3791A>G (p.Asp1264Gly)
c.923A>G (p.Asp308Gly)
18g.33743807A>TCA402189090ASXL3c.3962A>T (p.Asp1321Val)
c.3959A>T (p.Asp1320Val)
c.3839A>T (p.Asp1280Val)
c.3935A>T (p.Asp1312Val)
c.3881A>T (p.Asp1294Val)
c.3842A>T (p.Asp1281Val)
c.3791A>T (p.Asp1264Val)
c.923A>T (p.Asp308Val)
18g.33743808T>ACA402189094ASXL3c.3963T>A (p.Asp1321Glu)
c.3960T>A (p.Asp1320Glu)
c.3840T>A (p.Asp1280Glu)
c.3936T>A (p.Asp1312Glu)
c.3882T>A (p.Asp1294Glu)
c.3843T>A (p.Asp1281Glu)
c.3792T>A (p.Asp1264Glu)
c.924T>A (p.Asp308Glu)
18g.33743808T>CCA503770139ASXL3c.3963T>C (p.Asp1321=)
c.3960T>C (p.Asp1320=)
c.3840T>C (p.Asp1280=)
c.3936T>C (p.Asp1312=)
c.3882T>C (p.Asp1294=)
c.3843T>C (p.Asp1281=)
c.3792T>C (p.Asp1264=)
c.924T>C (p.Asp308=)
18g.33743808T>GCA402189097ASXL3c.3963T>G (p.Asp1321Glu)
c.3960T>G (p.Asp1320Glu)
c.3840T>G (p.Asp1280Glu)
c.3936T>G (p.Asp1312Glu)
c.3882T>G (p.Asp1294Glu)
c.3843T>G (p.Asp1281Glu)
c.3792T>G (p.Asp1264Glu)
c.924T>G (p.Asp308Glu)
18g.33743809A>CCA402189101ASXL3c.3964A>C (p.Lys1322Gln)
c.3961A>C (p.Lys1321Gln)
c.3841A>C (p.Lys1281Gln)
c.3937A>C (p.Lys1313Gln)
c.3883A>C (p.Lys1295Gln)
c.3844A>C (p.Lys1282Gln)
c.3793A>C (p.Lys1265Gln)
c.925A>C (p.Lys309Gln)
18g.33743809A>GCA402189102ASXL3c.3964A>G (p.Lys1322Glu)
c.3961A>G (p.Lys1321Glu)
c.3841A>G (p.Lys1281Glu)
c.3937A>G (p.Lys1313Glu)
c.3883A>G (p.Lys1295Glu)
c.3844A>G (p.Lys1282Glu)
c.3793A>G (p.Lys1265Glu)
c.925A>G (p.Lys309Glu)
18g.33743809A>TCA402189106ASXL3c.3964A>T (p.Lys1322Ter)
c.3961A>T (p.Lys1321Ter)
c.3841A>T (p.Lys1281Ter)
c.3937A>T (p.Lys1313Ter)
c.3883A>T (p.Lys1295Ter)
c.3844A>T (p.Lys1282Ter)
c.3793A>T (p.Lys1265Ter)
c.925A>T (p.Lys309Ter)
18g.33743810A>CCA402189113ASXL3c.3965A>C (p.Lys1322Thr)
c.3962A>C (p.Lys1321Thr)
c.3842A>C (p.Lys1281Thr)
c.3938A>C (p.Lys1313Thr)
c.3884A>C (p.Lys1295Thr)
c.3845A>C (p.Lys1282Thr)
c.3794A>C (p.Lys1265Thr)
c.926A>C (p.Lys309Thr)
18g.33743810A>GCA402189116ASXL3c.3965A>G (p.Lys1322Arg)
c.3962A>G (p.Lys1321Arg)
c.3842A>G (p.Lys1281Arg)
c.3938A>G (p.Lys1313Arg)
c.3884A>G (p.Lys1295Arg)
c.3845A>G (p.Lys1282Arg)
c.3794A>G (p.Lys1265Arg)
c.926A>G (p.Lys309Arg)
18g.33743810A>TCA402189110ASXL3c.3965A>T (p.Lys1322Met)
c.3962A>T (p.Lys1321Met)
c.3842A>T (p.Lys1281Met)
c.3938A>T (p.Lys1313Met)
c.3884A>T (p.Lys1295Met)
c.3845A>T (p.Lys1282Met)
c.3794A>T (p.Lys1265Met)
c.926A>T (p.Lys309Met)
ClinVar
18g.33743811G>ACA503770153ASXL3c.3966G>A (p.Lys1322=)
c.3963G>A (p.Lys1321=)
c.3843G>A (p.Lys1281=)
c.3939G>A (p.Lys1313=)
c.3885G>A (p.Lys1295=)
c.3846G>A (p.Lys1282=)
c.3795G>A (p.Lys1265=)
c.927G>A (p.Lys309=)
gnomAD v4
18g.33743811G>CCA402189121ASXL3c.3966G>C (p.Lys1322Asn)
c.3963G>C (p.Lys1321Asn)
c.3843G>C (p.Lys1281Asn)
c.3939G>C (p.Lys1313Asn)
c.3885G>C (p.Lys1295Asn)
c.3846G>C (p.Lys1282Asn)
c.3795G>C (p.Lys1265Asn)
c.927G>C (p.Lys309Asn)
18g.33743811G>TCA402189118ASXL3c.3966G>T (p.Lys1322Asn)
c.3963G>T (p.Lys1321Asn)
c.3843G>T (p.Lys1281Asn)
c.3939G>T (p.Lys1313Asn)
c.3885G>T (p.Lys1295Asn)
c.3846G>T (p.Lys1282Asn)
c.3795G>T (p.Lys1265Asn)
c.927G>T (p.Lys309Asn)
18g.33743812C>ACA402189129ASXL3c.3967C>A (p.Gln1323Lys)
c.3964C>A (p.Gln1322Lys)
c.3844C>A (p.Gln1282Lys)
c.3940C>A (p.Gln1314Lys)
c.3886C>A (p.Gln1296Lys)
c.3847C>A (p.Gln1283Lys)
c.3796C>A (p.Gln1266Lys)
c.928C>A (p.Gln310Lys)
18g.33743812C=CA2294857852ASXL3c.3967C= (p.Gln1323=)
c.3964C= (p.Gln1322=)
c.3844C= (p.Gln1282=)
c.3940C= (p.Gln1314=)
c.3886C= (p.Gln1296=)
c.3847C= (p.Gln1283=)
c.3796C= (p.Gln1266=)
c.928C= (p.Gln310=)
18g.33743812C>GCA402189125ASXL3c.3967C>G (p.Gln1323Glu)
c.3964C>G (p.Gln1322Glu)
c.3844C>G (p.Gln1282Glu)
c.3940C>G (p.Gln1314Glu)
c.3886C>G (p.Gln1296Glu)
c.3847C>G (p.Gln1283Glu)
c.3796C>G (p.Gln1266Glu)
c.928C>G (p.Gln310Glu)
18g.33743812C>TCA402189132ASXL3c.3967C>T (p.Gln1323Ter)
c.3964C>T (p.Gln1322Ter)
c.3844C>T (p.Gln1282Ter)
c.3940C>T (p.Gln1314Ter)
c.3886C>T (p.Gln1296Ter)
c.3847C>T (p.Gln1283Ter)
c.3796C>T (p.Gln1266Ter)
c.928C>T (p.Gln310Ter)
ClinVar dbSNP
18g.33743813A=CA2294857853ASXL3c.3968A= (p.Gln1323=)
c.3965A= (p.Gln1322=)
c.3845A= (p.Gln1282=)
c.3941A= (p.Gln1314=)
c.3887A= (p.Gln1296=)
c.3848A= (p.Gln1283=)
c.3797A= (p.Gln1266=)
c.929A= (p.Gln310=)
18g.33743813A>CCA402189134ASXL3c.3968A>C (p.Gln1323Pro)
c.3965A>C (p.Gln1322Pro)
c.3845A>C (p.Gln1282Pro)
c.3941A>C (p.Gln1314Pro)
c.3887A>C (p.Gln1296Pro)
c.3848A>C (p.Gln1283Pro)
c.3797A>C (p.Gln1266Pro)
c.929A>C (p.Gln310Pro)
dbSNP gnomAD v2
18g.33743813A>GCA402189140ASXL3c.3968A>G (p.Gln1323Arg)
c.3965A>G (p.Gln1322Arg)
c.3845A>G (p.Gln1282Arg)
c.3941A>G (p.Gln1314Arg)
c.3887A>G (p.Gln1296Arg)
c.3848A>G (p.Gln1283Arg)
c.3797A>G (p.Gln1266Arg)
c.929A>G (p.Gln310Arg)
18g.33743813A>TCA402189136ASXL3c.3968A>T (p.Gln1323Leu)
c.3965A>T (p.Gln1322Leu)
c.3845A>T (p.Gln1282Leu)
c.3941A>T (p.Gln1314Leu)
c.3887A>T (p.Gln1296Leu)
c.3848A>T (p.Gln1283Leu)
c.3797A>T (p.Gln1266Leu)
c.929A>T (p.Gln310Leu)
dbSNP gnomAD v4
18g.33743814G>ACA503770164ASXL3c.3969G>A (p.Gln1323=)
c.3966G>A (p.Gln1322=)
c.3846G>A (p.Gln1282=)
c.3942G>A (p.Gln1314=)
c.3888G>A (p.Gln1296=)
c.3849G>A (p.Gln1283=)
c.3798G>A (p.Gln1266=)
c.930G>A (p.Gln310=)
18g.33743814G>CCA402189143ASXL3c.3969G>C (p.Gln1323His)
c.3966G>C (p.Gln1322His)
c.3846G>C (p.Gln1282His)
c.3942G>C (p.Gln1314His)
c.3888G>C (p.Gln1296His)
c.3849G>C (p.Gln1283His)
c.3798G>C (p.Gln1266His)
c.930G>C (p.Gln310His)
18g.33743814G>TCA402189144ASXL3c.3969G>T (p.Gln1323His)
c.3966G>T (p.Gln1322His)
c.3846G>T (p.Gln1282His)
c.3942G>T (p.Gln1314His)
c.3888G>T (p.Gln1296His)
c.3849G>T (p.Gln1283His)
c.3798G>T (p.Gln1266His)
c.930G>T (p.Gln310His)
18g.33743815T>ACA402189152ASXL3c.3970T>A (p.Leu1324Ile)
c.3967T>A (p.Leu1323Ile)
c.3847T>A (p.Leu1283Ile)
c.3943T>A (p.Leu1315Ile)
c.3889T>A (p.Leu1297Ile)
c.3850T>A (p.Leu1284Ile)
c.3799T>A (p.Leu1267Ile)
c.931T>A (p.Leu311Ile)
18g.33743815T>CCA503770169ASXL3c.3970T>C (p.Leu1324=)
c.3967T>C (p.Leu1323=)
c.3847T>C (p.Leu1283=)
c.3943T>C (p.Leu1315=)
c.3889T>C (p.Leu1297=)
c.3850T>C (p.Leu1284=)
c.3799T>C (p.Leu1267=)
c.931T>C (p.Leu311=)
dbSNP
18g.33743815T>GCA402189154ASXL3c.3970T>G (p.Leu1324Val)
c.3967T>G (p.Leu1323Val)
c.3847T>G (p.Leu1283Val)
c.3943T>G (p.Leu1315Val)
c.3889T>G (p.Leu1297Val)
c.3850T>G (p.Leu1284Val)
c.3799T>G (p.Leu1267Val)
c.931T>G (p.Leu311Val)
18g.33743815T=CA2294857854ASXL3c.3970T= (p.Leu1324=)
c.3967T= (p.Leu1323=)
c.3847T= (p.Leu1283=)
c.3943T= (p.Leu1315=)
c.3889T= (p.Leu1297=)
c.3850T= (p.Leu1284=)
c.3799T= (p.Leu1267=)
c.931T= (p.Leu311=)
18g.33743816T>ACA402189156ASXL3c.3971T>A (p.Leu1324Ter)
c.3968T>A (p.Leu1323Ter)
c.3848T>A (p.Leu1283Ter)
c.3944T>A (p.Leu1315Ter)
c.3890T>A (p.Leu1297Ter)
c.3851T>A (p.Leu1284Ter)
c.3800T>A (p.Leu1267Ter)
c.932T>A (p.Leu311Ter)
18g.33743816T>CCA297793255ASXL3c.3971T>C (p.Leu1324Ser)
c.3968T>C (p.Leu1323Ser)
c.3848T>C (p.Leu1283Ser)
c.3944T>C (p.Leu1315Ser)
c.3890T>C (p.Leu1297Ser)
c.3851T>C (p.Leu1284Ser)
c.3800T>C (p.Leu1267Ser)
c.932T>C (p.Leu311Ser)
dbSNP gnomAD v3 gnomAD v4
18g.33743816T>GCA402189159ASXL3c.3971T>G (p.Leu1324Ter)
c.3968T>G (p.Leu1323Ter)
c.3848T>G (p.Leu1283Ter)
c.3944T>G (p.Leu1315Ter)
c.3890T>G (p.Leu1297Ter)
c.3851T>G (p.Leu1284Ter)
c.3800T>G (p.Leu1267Ter)
c.932T>G (p.Leu311Ter)
18g.33743816T=CA2294857855ASXL3c.3971T= (p.Leu1324=)
c.3968T= (p.Leu1323=)
c.3848T= (p.Leu1283=)
c.3944T= (p.Leu1315=)
c.3890T= (p.Leu1297=)
c.3851T= (p.Leu1284=)
c.3800T= (p.Leu1267=)
c.932T= (p.Leu311=)
18g.33743817A>CCA402189162ASXL3c.3972A>C (p.Leu1324Phe)
c.3969A>C (p.Leu1323Phe)
c.3849A>C (p.Leu1283Phe)
c.3945A>C (p.Leu1315Phe)
c.3891A>C (p.Leu1297Phe)
c.3852A>C (p.Leu1284Phe)
c.3801A>C (p.Leu1267Phe)
c.933A>C (p.Leu311Phe)
18g.33743817A>GCA503770175ASXL3c.3972A>G (p.Leu1324=)
c.3969A>G (p.Leu1323=)
c.3849A>G (p.Leu1283=)
c.3945A>G (p.Leu1315=)
c.3891A>G (p.Leu1297=)
c.3852A>G (p.Leu1284=)
c.3801A>G (p.Leu1267=)
c.933A>G (p.Leu311=)
18g.33743817A>TCA402189166ASXL3c.3972A>T (p.Leu1324Phe)
c.3969A>T (p.Leu1323Phe)
c.3849A>T (p.Leu1283Phe)
c.3945A>T (p.Leu1315Phe)
c.3891A>T (p.Leu1297Phe)
c.3852A>T (p.Leu1284Phe)
c.3801A>T (p.Leu1267Phe)
c.933A>T (p.Leu311Phe)
18g.33743818C>ACA8934147ASXL3c.3973C>A (p.Leu1325Ile)
c.3970C>A (p.Leu1324Ile)
c.3850C>A (p.Leu1284Ile)
c.3946C>A (p.Leu1316Ile)
c.3892C>A (p.Leu1298Ile)
c.3853C>A (p.Leu1285Ile)
c.3802C>A (p.Leu1268Ile)
c.934C>A (p.Leu312Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743818C=CA2294857856ASXL3c.3973C= (p.Leu1325=)
c.3970C= (p.Leu1324=)
c.3850C= (p.Leu1284=)
c.3946C= (p.Leu1316=)
c.3892C= (p.Leu1298=)
c.3853C= (p.Leu1285=)
c.3802C= (p.Leu1268=)
c.934C= (p.Leu312=)
18g.33743818C>GCA402189172ASXL3c.3973C>G (p.Leu1325Val)
c.3970C>G (p.Leu1324Val)
c.3850C>G (p.Leu1284Val)
c.3946C>G (p.Leu1316Val)
c.3892C>G (p.Leu1298Val)
c.3853C>G (p.Leu1285Val)
c.3802C>G (p.Leu1268Val)
c.934C>G (p.Leu312Val)
gnomAD v4
18g.33743818C>TCA503770185ASXL3c.3973C>T (p.Leu1325=)
c.3970C>T (p.Leu1324=)
c.3850C>T (p.Leu1284=)
c.3946C>T (p.Leu1316=)
c.3892C>T (p.Leu1298=)
c.3853C>T (p.Leu1285=)
c.3802C>T (p.Leu1268=)
c.934C>T (p.Leu312=)
18g.33743819T>ACA402189175ASXL3c.3974T>A (p.Leu1325Gln)
c.3971T>A (p.Leu1324Gln)
c.3851T>A (p.Leu1284Gln)
c.3947T>A (p.Leu1316Gln)
c.3893T>A (p.Leu1298Gln)
c.3854T>A (p.Leu1285Gln)
c.3803T>A (p.Leu1268Gln)
c.935T>A (p.Leu312Gln)
COSMIC
18g.33743819T>CCA402189177ASXL3c.3974T>C (p.Leu1325Pro)
c.3971T>C (p.Leu1324Pro)
c.3851T>C (p.Leu1284Pro)
c.3947T>C (p.Leu1316Pro)
c.3893T>C (p.Leu1298Pro)
c.3854T>C (p.Leu1285Pro)
c.3803T>C (p.Leu1268Pro)
c.935T>C (p.Leu312Pro)
18g.33743819T>GCA402189180ASXL3c.3974T>G (p.Leu1325Arg)
c.3971T>G (p.Leu1324Arg)
c.3851T>G (p.Leu1284Arg)
c.3947T>G (p.Leu1316Arg)
c.3893T>G (p.Leu1298Arg)
c.3854T>G (p.Leu1285Arg)
c.3803T>G (p.Leu1268Arg)
c.935T>G (p.Leu312Arg)
18g.33743820A>CCA503770192ASXL3c.3975A>C (p.Leu1325=)
c.3972A>C (p.Leu1324=)
c.3852A>C (p.Leu1284=)
c.3948A>C (p.Leu1316=)
c.3894A>C (p.Leu1298=)
c.3855A>C (p.Leu1285=)
c.3804A>C (p.Leu1268=)
c.936A>C (p.Leu312=)
18g.33743820A>GCA503770193ASXL3c.3975A>G (p.Leu1325=)
c.3972A>G (p.Leu1324=)
c.3852A>G (p.Leu1284=)
c.3948A>G (p.Leu1316=)
c.3894A>G (p.Leu1298=)
c.3855A>G (p.Leu1285=)
c.3804A>G (p.Leu1268=)
c.936A>G (p.Leu312=)
18g.33743820A>TCA503770195ASXL3c.3975A>T (p.Leu1325=)
c.3972A>T (p.Leu1324=)
c.3852A>T (p.Leu1284=)
c.3948A>T (p.Leu1316=)
c.3894A>T (p.Leu1298=)
c.3855A>T (p.Leu1285=)
c.3804A>T (p.Leu1268=)
c.936A>T (p.Leu312=)
18g.33743821A=CA2294857857ASXL3c.3976A= (p.Ile1326=)
c.3973A= (p.Ile1325=)
c.3853A= (p.Ile1285=)
c.3949A= (p.Ile1317=)
c.3895A= (p.Ile1299=)
c.3856A= (p.Ile1286=)
c.3805A= (p.Ile1269=)
c.937A= (p.Ile313=)
18g.33743821A>CCA402189188ASXL3c.3976A>C (p.Ile1326Leu)
c.3973A>C (p.Ile1325Leu)
c.3853A>C (p.Ile1285Leu)
c.3949A>C (p.Ile1317Leu)
c.3895A>C (p.Ile1299Leu)
c.3856A>C (p.Ile1286Leu)
c.3805A>C (p.Ile1269Leu)
c.937A>C (p.Ile313Leu)
18g.33743821A>GCA402189192ASXL3c.3976A>G (p.Ile1326Val)
c.3973A>G (p.Ile1325Val)
c.3853A>G (p.Ile1285Val)
c.3949A>G (p.Ile1317Val)
c.3895A>G (p.Ile1299Val)
c.3856A>G (p.Ile1286Val)
c.3805A>G (p.Ile1269Val)
c.937A>G (p.Ile313Val)
dbSNP gnomAD v3 gnomAD v4
18g.33743821A>TCA402189190ASXL3c.3976A>T (p.Ile1326Leu)
c.3973A>T (p.Ile1325Leu)
c.3853A>T (p.Ile1285Leu)
c.3949A>T (p.Ile1317Leu)
c.3895A>T (p.Ile1299Leu)
c.3856A>T (p.Ile1286Leu)
c.3805A>T (p.Ile1269Leu)
c.937A>T (p.Ile313Leu)
18g.33743822T>ACA402189197ASXL3c.3977T>A (p.Ile1326Lys)
c.3974T>A (p.Ile1325Lys)
c.3854T>A (p.Ile1285Lys)
c.3950T>A (p.Ile1317Lys)
c.3896T>A (p.Ile1299Lys)
c.3857T>A (p.Ile1286Lys)
c.3806T>A (p.Ile1269Lys)
c.938T>A (p.Ile313Lys)
18g.33743822T>CCA402189199ASXL3c.3977T>C (p.Ile1326Thr)
c.3974T>C (p.Ile1325Thr)
c.3854T>C (p.Ile1285Thr)
c.3950T>C (p.Ile1317Thr)
c.3896T>C (p.Ile1299Thr)
c.3857T>C (p.Ile1286Thr)
c.3806T>C (p.Ile1269Thr)
c.938T>C (p.Ile313Thr)
18g.33743822T>GCA402189201ASXL3c.3977T>G (p.Ile1326Arg)
c.3974T>G (p.Ile1325Arg)
c.3854T>G (p.Ile1285Arg)
c.3950T>G (p.Ile1317Arg)
c.3896T>G (p.Ile1299Arg)
c.3857T>G (p.Ile1286Arg)
c.3806T>G (p.Ile1269Arg)
c.938T>G (p.Ile313Arg)
18g.33743823A=CA2294857858ASXL3c.3978A= (p.Ile1326=)
c.3975A= (p.Ile1325=)
c.3855A= (p.Ile1285=)
c.3951A= (p.Ile1317=)
c.3897A= (p.Ile1299=)
c.3858A= (p.Ile1286=)
c.3807A= (p.Ile1269=)
c.939A= (p.Ile313=)
18g.33743823A>CCA503770206ASXL3c.3978A>C (p.Ile1326=)
c.3975A>C (p.Ile1325=)
c.3855A>C (p.Ile1285=)
c.3951A>C (p.Ile1317=)
c.3897A>C (p.Ile1299=)
c.3858A>C (p.Ile1286=)
c.3807A>C (p.Ile1269=)
c.939A>C (p.Ile313=)
18g.33743823A>GCA402189205ASXL3c.3978A>G (p.Ile1326Met)
c.3975A>G (p.Ile1325Met)
c.3855A>G (p.Ile1285Met)
c.3951A>G (p.Ile1317Met)
c.3897A>G (p.Ile1299Met)
c.3858A>G (p.Ile1286Met)
c.3807A>G (p.Ile1269Met)
c.939A>G (p.Ile313Met)
ClinVar dbSNP
18g.33743823A>TCA503770208ASXL3c.3978A>T (p.Ile1326=)
c.3975A>T (p.Ile1325=)
c.3855A>T (p.Ile1285=)
c.3951A>T (p.Ile1317=)
c.3897A>T (p.Ile1299=)
c.3858A>T (p.Ile1286=)
c.3807A>T (p.Ile1269=)
c.939A>T (p.Ile313=)
18g.33743824T>ACA402189207ASXL3c.3979T>A (p.Ser1327Thr)
c.3976T>A (p.Ser1326Thr)
c.3856T>A (p.Ser1286Thr)
c.3952T>A (p.Ser1318Thr)
c.3898T>A (p.Ser1300Thr)
c.3859T>A (p.Ser1287Thr)
c.3808T>A (p.Ser1270Thr)
c.940T>A (p.Ser314Thr)
18g.33743824T>CCA8934148ASXL3c.3979T>C (p.Ser1327Pro)
c.3976T>C (p.Ser1326Pro)
c.3856T>C (p.Ser1286Pro)
c.3952T>C (p.Ser1318Pro)
c.3898T>C (p.Ser1300Pro)
c.3859T>C (p.Ser1287Pro)
c.3808T>C (p.Ser1270Pro)
c.940T>C (p.Ser314Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743824T>GCA402189211ASXL3c.3979T>G (p.Ser1327Ala)
c.3976T>G (p.Ser1326Ala)
c.3856T>G (p.Ser1286Ala)
c.3952T>G (p.Ser1318Ala)
c.3898T>G (p.Ser1300Ala)
c.3859T>G (p.Ser1287Ala)
c.3808T>G (p.Ser1270Ala)
c.940T>G (p.Ser314Ala)
18g.33743824T=CA2294857859ASXL3c.3979T= (p.Ser1327=)
c.3976T= (p.Ser1326=)
c.3856T= (p.Ser1286=)
c.3952T= (p.Ser1318=)
c.3898T= (p.Ser1300=)
c.3859T= (p.Ser1287=)
c.3808T= (p.Ser1270=)
c.940T= (p.Ser314=)
18g.33743825C>ACA402189215ASXL3c.3980C>A (p.Ser1327Ter)
c.3977C>A (p.Ser1326Ter)
c.3857C>A (p.Ser1286Ter)
c.3953C>A (p.Ser1318Ter)
c.3899C>A (p.Ser1300Ter)
c.3860C>A (p.Ser1287Ter)
c.3809C>A (p.Ser1270Ter)
c.941C>A (p.Ser314Ter)
18g.33743825C>GCA402189217ASXL3c.3980C>G (p.Ser1327Ter)
c.3977C>G (p.Ser1326Ter)
c.3857C>G (p.Ser1286Ter)
c.3953C>G (p.Ser1318Ter)
c.3899C>G (p.Ser1300Ter)
c.3860C>G (p.Ser1287Ter)
c.3809C>G (p.Ser1270Ter)
c.941C>G (p.Ser314Ter)
18g.33743825C>TCA402189221ASXL3c.3980C>T (p.Ser1327Leu)
c.3977C>T (p.Ser1326Leu)
c.3857C>T (p.Ser1286Leu)
c.3953C>T (p.Ser1318Leu)
c.3899C>T (p.Ser1300Leu)
c.3860C>T (p.Ser1287Leu)
c.3809C>T (p.Ser1270Leu)
c.941C>T (p.Ser314Leu)
18g.33743826A>CCA503770222ASXL3c.3981A>C (p.Ser1327=)
c.3978A>C (p.Ser1326=)
c.3858A>C (p.Ser1286=)
c.3954A>C (p.Ser1318=)
c.3900A>C (p.Ser1300=)
c.3861A>C (p.Ser1287=)
c.3810A>C (p.Ser1270=)
c.942A>C (p.Ser314=)
18g.33743826A>GCA503770223ASXL3c.3981A>G (p.Ser1327=)
c.3978A>G (p.Ser1326=)
c.3858A>G (p.Ser1286=)
c.3954A>G (p.Ser1318=)
c.3900A>G (p.Ser1300=)
c.3861A>G (p.Ser1287=)
c.3810A>G (p.Ser1270=)
c.942A>G (p.Ser314=)
18g.33743826A>TCA503770224ASXL3c.3981A>T (p.Ser1327=)
c.3978A>T (p.Ser1326=)
c.3858A>T (p.Ser1286=)
c.3954A>T (p.Ser1318=)
c.3900A>T (p.Ser1300=)
c.3861A>T (p.Ser1287=)
c.3810A>T (p.Ser1270=)
c.942A>T (p.Ser314=)
18g.33743827A>CCA402189225ASXL3c.3982A>C (p.Ser1328Arg)
c.3979A>C (p.Ser1327Arg)
c.3859A>C (p.Ser1287Arg)
c.3955A>C (p.Ser1319Arg)
c.3901A>C (p.Ser1301Arg)
c.3862A>C (p.Ser1288Arg)
c.3811A>C (p.Ser1271Arg)
c.943A>C (p.Ser315Arg)
18g.33743827A>GCA402189231ASXL3c.3982A>G (p.Ser1328Gly)
c.3979A>G (p.Ser1327Gly)
c.3859A>G (p.Ser1287Gly)
c.3955A>G (p.Ser1319Gly)
c.3901A>G (p.Ser1301Gly)
c.3862A>G (p.Ser1288Gly)
c.3811A>G (p.Ser1271Gly)
c.943A>G (p.Ser315Gly)
18g.33743827A>TCA402189228ASXL3c.3982A>T (p.Ser1328Cys)
c.3979A>T (p.Ser1327Cys)
c.3859A>T (p.Ser1287Cys)
c.3955A>T (p.Ser1319Cys)
c.3901A>T (p.Ser1301Cys)
c.3862A>T (p.Ser1288Cys)
c.3811A>T (p.Ser1271Cys)
c.943A>T (p.Ser315Cys)
18g.33743828G>ACA402189234ASXL3c.3983G>A (p.Ser1328Asn)
c.3980G>A (p.Ser1327Asn)
c.3860G>A (p.Ser1287Asn)
c.3956G>A (p.Ser1319Asn)
c.3902G>A (p.Ser1301Asn)
c.3863G>A (p.Ser1288Asn)
c.3812G>A (p.Ser1271Asn)
c.944G>A (p.Ser315Asn)
18g.33743828G>CCA402189236ASXL3c.3983G>C (p.Ser1328Thr)
c.3980G>C (p.Ser1327Thr)
c.3860G>C (p.Ser1287Thr)
c.3956G>C (p.Ser1319Thr)
c.3902G>C (p.Ser1301Thr)
c.3863G>C (p.Ser1288Thr)
c.3812G>C (p.Ser1271Thr)
c.944G>C (p.Ser315Thr)
18g.33743828G>TCA402189237ASXL3c.3983G>T (p.Ser1328Ile)
c.3980G>T (p.Ser1327Ile)
c.3860G>T (p.Ser1287Ile)
c.3956G>T (p.Ser1319Ile)
c.3902G>T (p.Ser1301Ile)
c.3863G>T (p.Ser1288Ile)
c.3812G>T (p.Ser1271Ile)
c.944G>T (p.Ser315Ile)
gnomAD v4
18g.33743829C>ACA402189239ASXL3c.3984C>A (p.Ser1328Arg)
c.3981C>A (p.Ser1327Arg)
c.3861C>A (p.Ser1287Arg)
c.3957C>A (p.Ser1319Arg)
c.3903C>A (p.Ser1301Arg)
c.3864C>A (p.Ser1288Arg)
c.3813C>A (p.Ser1271Arg)
c.945C>A (p.Ser315Arg)
18g.33743829C=CA2294857860ASXL3c.3984C= (p.Ser1328=)
c.3981C= (p.Ser1327=)
c.3861C= (p.Ser1287=)
c.3957C= (p.Ser1319=)
c.3903C= (p.Ser1301=)
c.3864C= (p.Ser1288=)
c.3813C= (p.Ser1271=)
c.945C= (p.Ser315=)
18g.33743829C>GCA402189242ASXL3c.3984C>G (p.Ser1328Arg)
c.3981C>G (p.Ser1327Arg)
c.3861C>G (p.Ser1287Arg)
c.3957C>G (p.Ser1319Arg)
c.3903C>G (p.Ser1301Arg)
c.3864C>G (p.Ser1288Arg)
c.3813C>G (p.Ser1271Arg)
c.945C>G (p.Ser315Arg)
18g.33743829C>TCA8934149ASXL3c.3984C>T (p.Ser1328=)
c.3981C>T (p.Ser1327=)
c.3861C>T (p.Ser1287=)
c.3957C>T (p.Ser1319=)
c.3903C>T (p.Ser1301=)
c.3864C>T (p.Ser1288=)
c.3813C>T (p.Ser1271=)
c.945C>T (p.Ser315=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743830A>CCA402189247ASXL3c.3985A>C (p.Ser1329Arg)
c.3982A>C (p.Ser1328Arg)
c.3862A>C (p.Ser1288Arg)
c.3958A>C (p.Ser1320Arg)
c.3904A>C (p.Ser1302Arg)
c.3865A>C (p.Ser1289Arg)
c.3814A>C (p.Ser1272Arg)
c.946A>C (p.Ser316Arg)
18g.33743830A>GCA402189248ASXL3c.3985A>G (p.Ser1329Gly)
c.3982A>G (p.Ser1328Gly)
c.3862A>G (p.Ser1288Gly)
c.3958A>G (p.Ser1320Gly)
c.3904A>G (p.Ser1302Gly)
c.3865A>G (p.Ser1289Gly)
c.3814A>G (p.Ser1272Gly)
c.946A>G (p.Ser316Gly)
18g.33743830A>TCA402189251ASXL3c.3985A>T (p.Ser1329Cys)
c.3982A>T (p.Ser1328Cys)
c.3862A>T (p.Ser1288Cys)
c.3958A>T (p.Ser1320Cys)
c.3904A>T (p.Ser1302Cys)
c.3865A>T (p.Ser1289Cys)
c.3814A>T (p.Ser1272Cys)
c.946A>T (p.Ser316Cys)
18g.33743831G>ACA402189255ASXL3c.3986G>A (p.Ser1329Asn)
c.3983G>A (p.Ser1328Asn)
c.3863G>A (p.Ser1288Asn)
c.3959G>A (p.Ser1320Asn)
c.3905G>A (p.Ser1302Asn)
c.3866G>A (p.Ser1289Asn)
c.3815G>A (p.Ser1272Asn)
c.947G>A (p.Ser316Asn)
gnomAD v4
18g.33743831G>CCA402189258ASXL3c.3986G>C (p.Ser1329Thr)
c.3983G>C (p.Ser1328Thr)
c.3863G>C (p.Ser1288Thr)
c.3959G>C (p.Ser1320Thr)
c.3905G>C (p.Ser1302Thr)
c.3866G>C (p.Ser1289Thr)
c.3815G>C (p.Ser1272Thr)
c.947G>C (p.Ser316Thr)
18g.33743831G>TCA402189261ASXL3c.3986G>T (p.Ser1329Ile)
c.3983G>T (p.Ser1328Ile)
c.3863G>T (p.Ser1288Ile)
c.3959G>T (p.Ser1320Ile)
c.3905G>T (p.Ser1302Ile)
c.3866G>T (p.Ser1289Ile)
c.3815G>T (p.Ser1272Ile)
c.947G>T (p.Ser316Ile)
18g.33743832C>ACA402189264ASXL3c.3987C>A (p.Ser1329Arg)
c.3984C>A (p.Ser1328Arg)
c.3864C>A (p.Ser1288Arg)
c.3960C>A (p.Ser1320Arg)
c.3906C>A (p.Ser1302Arg)
c.3867C>A (p.Ser1289Arg)
c.3816C>A (p.Ser1272Arg)
c.948C>A (p.Ser316Arg)
18g.33743832C>GCA402189267ASXL3c.3987C>G (p.Ser1329Arg)
c.3984C>G (p.Ser1328Arg)
c.3864C>G (p.Ser1288Arg)
c.3960C>G (p.Ser1320Arg)
c.3906C>G (p.Ser1302Arg)
c.3867C>G (p.Ser1289Arg)
c.3816C>G (p.Ser1272Arg)
c.948C>G (p.Ser316Arg)
18g.33743832C>TCA503770242ASXL3c.3987C>T (p.Ser1329=)
c.3984C>T (p.Ser1328=)
c.3864C>T (p.Ser1288=)
c.3960C>T (p.Ser1320=)
c.3906C>T (p.Ser1302=)
c.3867C>T (p.Ser1289=)
c.3816C>T (p.Ser1272=)
c.948C>T (p.Ser316=)
gnomAD v4
18g.33743833A=CA2294857861ASXL3c.3988A= (p.Ser1330=)
c.3985A= (p.Ser1329=)
c.3865A= (p.Ser1289=)
c.3961A= (p.Ser1321=)
c.3907A= (p.Ser1303=)
c.3868A= (p.Ser1290=)
c.3817A= (p.Ser1273=)
c.949A= (p.Ser317=)
18g.33743833A>CCA402189271ASXL3c.3988A>C (p.Ser1330Arg)
c.3985A>C (p.Ser1329Arg)
c.3865A>C (p.Ser1289Arg)
c.3961A>C (p.Ser1321Arg)
c.3907A>C (p.Ser1303Arg)
c.3868A>C (p.Ser1290Arg)
c.3817A>C (p.Ser1273Arg)
c.949A>C (p.Ser317Arg)
18g.33743833A>GCA8934150ASXL3c.3988A>G (p.Ser1330Gly)
c.3985A>G (p.Ser1329Gly)
c.3865A>G (p.Ser1289Gly)
c.3961A>G (p.Ser1321Gly)
c.3907A>G (p.Ser1303Gly)
c.3868A>G (p.Ser1290Gly)
c.3817A>G (p.Ser1273Gly)
c.949A>G (p.Ser317Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743833A>TCA402189276ASXL3c.3988A>T (p.Ser1330Cys)
c.3985A>T (p.Ser1329Cys)
c.3865A>T (p.Ser1289Cys)
c.3961A>T (p.Ser1321Cys)
c.3907A>T (p.Ser1303Cys)
c.3868A>T (p.Ser1290Cys)
c.3817A>T (p.Ser1273Cys)
c.949A>T (p.Ser317Cys)
dbSNP gnomAD v2
18g.33743834G>ACA402189280ASXL3c.3989G>A (p.Ser1330Asn)
c.3986G>A (p.Ser1329Asn)
c.3866G>A (p.Ser1289Asn)
c.3962G>A (p.Ser1321Asn)
c.3908G>A (p.Ser1303Asn)
c.3869G>A (p.Ser1290Asn)
c.3818G>A (p.Ser1273Asn)
c.950G>A (p.Ser317Asn)
18g.33743834G>CCA402189283ASXL3c.3989G>C (p.Ser1330Thr)
c.3986G>C (p.Ser1329Thr)
c.3866G>C (p.Ser1289Thr)
c.3962G>C (p.Ser1321Thr)
c.3908G>C (p.Ser1303Thr)
c.3869G>C (p.Ser1290Thr)
c.3818G>C (p.Ser1273Thr)
c.950G>C (p.Ser317Thr)
18g.33743834G>TCA402189286ASXL3c.3989G>T (p.Ser1330Ile)
c.3986G>T (p.Ser1329Ile)
c.3866G>T (p.Ser1289Ile)
c.3962G>T (p.Ser1321Ile)
c.3908G>T (p.Ser1303Ile)
c.3869G>T (p.Ser1290Ile)
c.3818G>T (p.Ser1273Ile)
c.950G>T (p.Ser317Ile)
18g.33743835T>ACA402189290ASXL3c.3990T>A (p.Ser1330Arg)
c.3987T>A (p.Ser1329Arg)
c.3867T>A (p.Ser1289Arg)
c.3963T>A (p.Ser1321Arg)
c.3909T>A (p.Ser1303Arg)
c.3870T>A (p.Ser1290Arg)
c.3819T>A (p.Ser1273Arg)
c.951T>A (p.Ser317Arg)
18g.33743835T>CCA503770256ASXL3c.3990T>C (p.Ser1330=)
c.3987T>C (p.Ser1329=)
c.3867T>C (p.Ser1289=)
c.3963T>C (p.Ser1321=)
c.3909T>C (p.Ser1303=)
c.3870T>C (p.Ser1290=)
c.3819T>C (p.Ser1273=)
c.951T>C (p.Ser317=)
gnomAD v4
18g.33743835T>GCA402189292ASXL3c.3990T>G (p.Ser1330Arg)
c.3987T>G (p.Ser1329Arg)
c.3867T>G (p.Ser1289Arg)
c.3963T>G (p.Ser1321Arg)
c.3909T>G (p.Ser1303Arg)
c.3870T>G (p.Ser1290Arg)
c.3819T>G (p.Ser1273Arg)
c.951T>G (p.Ser317Arg)
18g.33743836G>ACA297793263ASXL3c.3991G>A (p.Ala1331Thr)
c.3988G>A (p.Ala1330Thr)
c.3868G>A (p.Ala1290Thr)
c.3964G>A (p.Ala1322Thr)
c.3910G>A (p.Ala1304Thr)
c.3871G>A (p.Ala1291Thr)
c.3820G>A (p.Ala1274Thr)
c.952G>A (p.Ala318Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743836G>CCA402189297ASXL3c.3991G>C (p.Ala1331Pro)
c.3988G>C (p.Ala1330Pro)
c.3868G>C (p.Ala1290Pro)
c.3964G>C (p.Ala1322Pro)
c.3910G>C (p.Ala1304Pro)
c.3871G>C (p.Ala1291Pro)
c.3820G>C (p.Ala1274Pro)
c.952G>C (p.Ala318Pro)
18g.33743836G=CA2294857862ASXL3c.3991G= (p.Ala1331=)
c.3988G= (p.Ala1330=)
c.3868G= (p.Ala1290=)
c.3964G= (p.Ala1322=)
c.3910G= (p.Ala1304=)
c.3871G= (p.Ala1291=)
c.3820G= (p.Ala1274=)
c.952G= (p.Ala318=)
18g.33743836G>TCA402189299ASXL3c.3991G>T (p.Ala1331Ser)
c.3988G>T (p.Ala1330Ser)
c.3868G>T (p.Ala1290Ser)
c.3964G>T (p.Ala1322Ser)
c.3910G>T (p.Ala1304Ser)
c.3871G>T (p.Ala1291Ser)
c.3820G>T (p.Ala1274Ser)
c.952G>T (p.Ala318Ser)
18g.33743837C>ACA402189306ASXL3c.3992C>A (p.Ala1331Asp)
c.3989C>A (p.Ala1330Asp)
c.3869C>A (p.Ala1290Asp)
c.3965C>A (p.Ala1322Asp)
c.3911C>A (p.Ala1304Asp)
c.3872C>A (p.Ala1291Asp)
c.3821C>A (p.Ala1274Asp)
c.953C>A (p.Ala318Asp)
COSMIC
18g.33743837C=CA2294857863ASXL3c.3992C= (p.Ala1331=)
c.3989C= (p.Ala1330=)
c.3869C= (p.Ala1290=)
c.3965C= (p.Ala1322=)
c.3911C= (p.Ala1304=)
c.3872C= (p.Ala1291=)
c.3821C= (p.Ala1274=)
c.953C= (p.Ala318=)
18g.33743837C>GCA402189309ASXL3c.3992C>G (p.Ala1331Gly)
c.3989C>G (p.Ala1330Gly)
c.3869C>G (p.Ala1290Gly)
c.3965C>G (p.Ala1322Gly)
c.3911C>G (p.Ala1304Gly)
c.3872C>G (p.Ala1291Gly)
c.3821C>G (p.Ala1274Gly)
c.953C>G (p.Ala318Gly)
18g.33743837C>TCA402189304ASXL3c.3992C>T (p.Ala1331Val)
c.3989C>T (p.Ala1330Val)
c.3869C>T (p.Ala1290Val)
c.3965C>T (p.Ala1322Val)
c.3911C>T (p.Ala1304Val)
c.3872C>T (p.Ala1291Val)
c.3821C>T (p.Ala1274Val)
c.953C>T (p.Ala318Val)
dbSNP gnomAD v4
18g.33743838T>ACA503770268ASXL3c.3993T>A (p.Ala1331=)
c.3990T>A (p.Ala1330=)
c.3870T>A (p.Ala1290=)
c.3966T>A (p.Ala1322=)
c.3912T>A (p.Ala1304=)
c.3873T>A (p.Ala1291=)
c.3822T>A (p.Ala1274=)
c.954T>A (p.Ala318=)
18g.33743838T>CCA503770270ASXL3c.3993T>C (p.Ala1331=)
c.3990T>C (p.Ala1330=)
c.3870T>C (p.Ala1290=)
c.3966T>C (p.Ala1322=)
c.3912T>C (p.Ala1304=)
c.3873T>C (p.Ala1291=)
c.3822T>C (p.Ala1274=)
c.954T>C (p.Ala318=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743838T>GCA503770272ASXL3c.3993T>G (p.Ala1331=)
c.3990T>G (p.Ala1330=)
c.3870T>G (p.Ala1290=)
c.3966T>G (p.Ala1322=)
c.3912T>G (p.Ala1304=)
c.3873T>G (p.Ala1291=)
c.3822T>G (p.Ala1274=)
c.954T>G (p.Ala318=)
18g.33743838T=CA2294857864ASXL3c.3993T= (p.Ala1331=)
c.3990T= (p.Ala1330=)
c.3870T= (p.Ala1290=)
c.3966T= (p.Ala1322=)
c.3912T= (p.Ala1304=)
c.3873T= (p.Ala1291=)
c.3822T= (p.Ala1274=)
c.954T= (p.Ala318=)
18g.33743839A>CCA402189317ASXL3c.3994A>C (p.Ser1332Arg)
c.3991A>C (p.Ser1331Arg)
c.3871A>C (p.Ser1291Arg)
c.3967A>C (p.Ser1323Arg)
c.3913A>C (p.Ser1305Arg)
c.3874A>C (p.Ser1292Arg)
c.3823A>C (p.Ser1275Arg)
c.955A>C (p.Ser319Arg)
18g.33743839A>GCA402189313ASXL3c.3994A>G (p.Ser1332Gly)
c.3991A>G (p.Ser1331Gly)
c.3871A>G (p.Ser1291Gly)
c.3967A>G (p.Ser1323Gly)
c.3913A>G (p.Ser1305Gly)
c.3874A>G (p.Ser1292Gly)
c.3823A>G (p.Ser1275Gly)
c.955A>G (p.Ser319Gly)
18g.33743839A>TCA402189315ASXL3c.3994A>T (p.Ser1332Cys)
c.3991A>T (p.Ser1331Cys)
c.3871A>T (p.Ser1291Cys)
c.3967A>T (p.Ser1323Cys)
c.3913A>T (p.Ser1305Cys)
c.3874A>T (p.Ser1292Cys)
c.3823A>T (p.Ser1275Cys)
c.955A>T (p.Ser319Cys)
18g.33743840G>ACA402189321ASXL3c.3995G>A (p.Ser1332Asn)
c.3992G>A (p.Ser1331Asn)
c.3872G>A (p.Ser1291Asn)
c.3968G>A (p.Ser1323Asn)
c.3914G>A (p.Ser1305Asn)
c.3875G>A (p.Ser1292Asn)
c.3824G>A (p.Ser1275Asn)
c.956G>A (p.Ser319Asn)
dbSNP gnomAD v2
18g.33743840G>CCA402189323ASXL3c.3995G>C (p.Ser1332Thr)
c.3992G>C (p.Ser1331Thr)
c.3872G>C (p.Ser1291Thr)
c.3968G>C (p.Ser1323Thr)
c.3914G>C (p.Ser1305Thr)
c.3875G>C (p.Ser1292Thr)
c.3824G>C (p.Ser1275Thr)
c.956G>C (p.Ser319Thr)
18g.33743840G=CA2294857865ASXL3c.3995G= (p.Ser1332=)
c.3992G= (p.Ser1331=)
c.3872G= (p.Ser1291=)
c.3968G= (p.Ser1323=)
c.3914G= (p.Ser1305=)
c.3875G= (p.Ser1292=)
c.3824G= (p.Ser1275=)
c.956G= (p.Ser319=)
18g.33743840G>TCA402189326ASXL3c.3995G>T (p.Ser1332Ile)
c.3992G>T (p.Ser1331Ile)
c.3872G>T (p.Ser1291Ile)
c.3968G>T (p.Ser1323Ile)
c.3914G>T (p.Ser1305Ile)
c.3875G>T (p.Ser1292Ile)
c.3824G>T (p.Ser1275Ile)
c.956G>T (p.Ser319Ile)
18g.33743841T>ACA402189330ASXL3c.3996T>A (p.Ser1332Arg)
c.3993T>A (p.Ser1331Arg)
c.3873T>A (p.Ser1291Arg)
c.3969T>A (p.Ser1323Arg)
c.3915T>A (p.Ser1305Arg)
c.3876T>A (p.Ser1292Arg)
c.3825T>A (p.Ser1275Arg)
c.957T>A (p.Ser319Arg)
COSMIC
18g.33743841T>CCA503770283ASXL3c.3996T>C (p.Ser1332=)
c.3993T>C (p.Ser1331=)
c.3873T>C (p.Ser1291=)
c.3969T>C (p.Ser1323=)
c.3915T>C (p.Ser1305=)
c.3876T>C (p.Ser1292=)
c.3825T>C (p.Ser1275=)
c.957T>C (p.Ser319=)
18g.33743841T>GCA402189331ASXL3c.3996T>G (p.Ser1332Arg)
c.3993T>G (p.Ser1331Arg)
c.3873T>G (p.Ser1291Arg)
c.3969T>G (p.Ser1323Arg)
c.3915T>G (p.Ser1305Arg)
c.3876T>G (p.Ser1292Arg)
c.3825T>G (p.Ser1275Arg)
c.957T>G (p.Ser319Arg)
18g.33743842A>CCA402189334ASXL3c.3997A>C (p.Asn1333His)
c.3994A>C (p.Asn1332His)
c.3874A>C (p.Asn1292His)
c.3970A>C (p.Asn1324His)
c.3916A>C (p.Asn1306His)
c.3877A>C (p.Asn1293His)
c.3826A>C (p.Asn1276His)
c.958A>C (p.Asn320His)
18g.33743842A>GCA402189336ASXL3c.3997A>G (p.Asn1333Asp)
c.3994A>G (p.Asn1332Asp)
c.3874A>G (p.Asn1292Asp)
c.3970A>G (p.Asn1324Asp)
c.3916A>G (p.Asn1306Asp)
c.3877A>G (p.Asn1293Asp)
c.3826A>G (p.Asn1276Asp)
c.958A>G (p.Asn320Asp)
18g.33743842A>TCA402189338ASXL3c.3997A>T (p.Asn1333Tyr)
c.3994A>T (p.Asn1332Tyr)
c.3874A>T (p.Asn1292Tyr)
c.3970A>T (p.Asn1324Tyr)
c.3916A>T (p.Asn1306Tyr)
c.3877A>T (p.Asn1293Tyr)
c.3826A>T (p.Asn1276Tyr)
c.958A>T (p.Asn320Tyr)
18g.33743843A>CCA402189340ASXL3c.3998A>C (p.Asn1333Thr)
c.3995A>C (p.Asn1332Thr)
c.3875A>C (p.Asn1292Thr)
c.3971A>C (p.Asn1324Thr)
c.3917A>C (p.Asn1306Thr)
c.3878A>C (p.Asn1293Thr)
c.3827A>C (p.Asn1276Thr)
c.959A>C (p.Asn320Thr)
18g.33743843A>GCA402189343ASXL3c.3998A>G (p.Asn1333Ser)
c.3995A>G (p.Asn1332Ser)
c.3875A>G (p.Asn1292Ser)
c.3971A>G (p.Asn1324Ser)
c.3917A>G (p.Asn1306Ser)
c.3878A>G (p.Asn1293Ser)
c.3827A>G (p.Asn1276Ser)
c.959A>G (p.Asn320Ser)
18g.33743843A>TCA402189345ASXL3c.3998A>T (p.Asn1333Ile)
c.3995A>T (p.Asn1332Ile)
c.3875A>T (p.Asn1292Ile)
c.3971A>T (p.Asn1324Ile)
c.3917A>T (p.Asn1306Ile)
c.3878A>T (p.Asn1293Ile)
c.3827A>T (p.Asn1276Ile)
c.959A>T (p.Asn320Ile)
gnomAD v4
18g.33743844C>ACA402189351ASXL3c.3999C>A (p.Asn1333Lys)
c.3996C>A (p.Asn1332Lys)
c.3876C>A (p.Asn1292Lys)
c.3972C>A (p.Asn1324Lys)
c.3918C>A (p.Asn1306Lys)
c.3879C>A (p.Asn1293Lys)
c.3828C>A (p.Asn1276Lys)
c.960C>A (p.Asn320Lys)
18g.33743844C=CA2294857866ASXL3c.3999C= (p.Asn1333=)
c.3996C= (p.Asn1332=)
c.3876C= (p.Asn1292=)
c.3972C= (p.Asn1324=)
c.3918C= (p.Asn1306=)
c.3879C= (p.Asn1293=)
c.3828C= (p.Asn1276=)
c.960C= (p.Asn320=)
18g.33743844C>GCA402189348ASXL3c.3999C>G (p.Asn1333Lys)
c.3996C>G (p.Asn1332Lys)
c.3876C>G (p.Asn1292Lys)
c.3972C>G (p.Asn1324Lys)
c.3918C>G (p.Asn1306Lys)
c.3879C>G (p.Asn1293Lys)
c.3828C>G (p.Asn1276Lys)
c.960C>G (p.Asn320Lys)
dbSNP gnomAD v4
18g.33743844C>TCA503770290ASXL3c.3999C>T (p.Asn1333=)
c.3996C>T (p.Asn1332=)
c.3876C>T (p.Asn1292=)
c.3972C>T (p.Asn1324=)
c.3918C>T (p.Asn1306=)
c.3879C>T (p.Asn1293=)
c.3828C>T (p.Asn1276=)
c.960C>T (p.Asn320=)
18g.33743845T>ACA402189355ASXL3c.4000T>A (p.Leu1334Ile)
c.3997T>A (p.Leu1333Ile)
c.3877T>A (p.Leu1293Ile)
c.3973T>A (p.Leu1325Ile)
c.3919T>A (p.Leu1307Ile)
c.3880T>A (p.Leu1294Ile)
c.3829T>A (p.Leu1277Ile)
c.961T>A (p.Leu321Ile)
18g.33743845T>CCA503770295ASXL3c.4000T>C (p.Leu1334=)
c.3997T>C (p.Leu1333=)
c.3877T>C (p.Leu1293=)
c.3973T>C (p.Leu1325=)
c.3919T>C (p.Leu1307=)
c.3880T>C (p.Leu1294=)
c.3829T>C (p.Leu1277=)
c.961T>C (p.Leu321=)
18g.33743845T>GCA402189356ASXL3c.4000T>G (p.Leu1334Val)
c.3997T>G (p.Leu1333Val)
c.3877T>G (p.Leu1293Val)
c.3973T>G (p.Leu1325Val)
c.3919T>G (p.Leu1307Val)
c.3880T>G (p.Leu1294Val)
c.3829T>G (p.Leu1277Val)
c.961T>G (p.Leu321Val)
18g.33743846T>ACA402189360ASXL3c.4001T>A (p.Leu1334Ter)
c.3998T>A (p.Leu1333Ter)
c.3878T>A (p.Leu1293Ter)
c.3974T>A (p.Leu1325Ter)
c.3920T>A (p.Leu1307Ter)
c.3881T>A (p.Leu1294Ter)
c.3830T>A (p.Leu1277Ter)
c.962T>A (p.Leu321Ter)
18g.33743846T>CCA402189363ASXL3c.4001T>C (p.Leu1334Ser)
c.3998T>C (p.Leu1333Ser)
c.3878T>C (p.Leu1293Ser)
c.3974T>C (p.Leu1325Ser)
c.3920T>C (p.Leu1307Ser)
c.3881T>C (p.Leu1294Ser)
c.3830T>C (p.Leu1277Ser)
c.962T>C (p.Leu321Ser)
18g.33743846T>GCA402189365ASXL3c.4001T>G (p.Leu1334Ter)
c.3998T>G (p.Leu1333Ter)
c.3878T>G (p.Leu1293Ter)
c.3974T>G (p.Leu1325Ter)
c.3920T>G (p.Leu1307Ter)
c.3881T>G (p.Leu1294Ter)
c.3830T>G (p.Leu1277Ter)
c.962T>G (p.Leu321Ter)
18g.33743847A>CCA402189367ASXL3c.4002A>C (p.Leu1334Phe)
c.3999A>C (p.Leu1333Phe)
c.3879A>C (p.Leu1293Phe)
c.3975A>C (p.Leu1325Phe)
c.3921A>C (p.Leu1307Phe)
c.3882A>C (p.Leu1294Phe)
c.3831A>C (p.Leu1277Phe)
c.963A>C (p.Leu321Phe)
18g.33743847A>GCA503770302ASXL3c.4002A>G (p.Leu1334=)
c.3999A>G (p.Leu1333=)
c.3879A>G (p.Leu1293=)
c.3975A>G (p.Leu1325=)
c.3921A>G (p.Leu1307=)
c.3882A>G (p.Leu1294=)
c.3831A>G (p.Leu1277=)
c.963A>G (p.Leu321=)
18g.33743847A>TCA402189370ASXL3c.4002A>T (p.Leu1334Phe)
c.3999A>T (p.Leu1333Phe)
c.3879A>T (p.Leu1293Phe)
c.3975A>T (p.Leu1325Phe)
c.3921A>T (p.Leu1307Phe)
c.3882A>T (p.Leu1294Phe)
c.3831A>T (p.Leu1277Phe)
c.963A>T (p.Leu321Phe)
18g.33743848G>ACA402189374ASXL3c.4003G>A (p.Val1335Ile)
c.4000G>A (p.Val1334Ile)
c.3880G>A (p.Val1294Ile)
c.3976G>A (p.Val1326Ile)
c.3922G>A (p.Val1308Ile)
c.3883G>A (p.Val1295Ile)
c.3832G>A (p.Val1278Ile)
c.964G>A (p.Val322Ile)
dbSNP gnomAD v4
18g.33743848G>CCA402189377ASXL3c.4003G>C (p.Val1335Leu)
c.4000G>C (p.Val1334Leu)
c.3880G>C (p.Val1294Leu)
c.3976G>C (p.Val1326Leu)
c.3922G>C (p.Val1308Leu)
c.3883G>C (p.Val1295Leu)
c.3832G>C (p.Val1278Leu)
c.964G>C (p.Val322Leu)
18g.33743848G>TCA402189380ASXL3c.4003G>T (p.Val1335Phe)
c.4000G>T (p.Val1334Phe)
c.3880G>T (p.Val1294Phe)
c.3976G>T (p.Val1326Phe)
c.3922G>T (p.Val1308Phe)
c.3883G>T (p.Val1295Phe)
c.3832G>T (p.Val1278Phe)
c.964G>T (p.Val322Phe)
18g.33743849T>ACA402189385ASXL3c.4004T>A (p.Val1335Asp)
c.4001T>A (p.Val1334Asp)
c.3881T>A (p.Val1294Asp)
c.3977T>A (p.Val1326Asp)
c.3923T>A (p.Val1308Asp)
c.3884T>A (p.Val1295Asp)
c.3833T>A (p.Val1278Asp)
c.965T>A (p.Val322Asp)
18g.33743849T>CCA402189389ASXL3c.4004T>C (p.Val1335Ala)
c.4001T>C (p.Val1334Ala)
c.3881T>C (p.Val1294Ala)
c.3977T>C (p.Val1326Ala)
c.3923T>C (p.Val1308Ala)
c.3884T>C (p.Val1295Ala)
c.3833T>C (p.Val1278Ala)
c.965T>C (p.Val322Ala)
18g.33743849T>GCA402189391ASXL3c.4004T>G (p.Val1335Gly)
c.4001T>G (p.Val1334Gly)
c.3881T>G (p.Val1294Gly)
c.3977T>G (p.Val1326Gly)
c.3923T>G (p.Val1308Gly)
c.3884T>G (p.Val1295Gly)
c.3833T>G (p.Val1278Gly)
c.965T>G (p.Val322Gly)
gnomAD v4
18g.33743850C>ACA503770311ASXL3c.4005C>A (p.Val1335=)
c.4002C>A (p.Val1334=)
c.3882C>A (p.Val1294=)
c.3978C>A (p.Val1326=)
c.3924C>A (p.Val1308=)
c.3885C>A (p.Val1295=)
c.3834C>A (p.Val1278=)
c.966C>A (p.Val322=)
18g.33743850C=CA2294857867ASXL3c.4005C= (p.Val1335=)
c.4002C= (p.Val1334=)
c.3882C= (p.Val1294=)
c.3978C= (p.Val1326=)
c.3924C= (p.Val1308=)
c.3885C= (p.Val1295=)
c.3834C= (p.Val1278=)
c.966C= (p.Val322=)
18g.33743850C>GCA8934151ASXL3c.4005C>G (p.Val1335=)
c.4002C>G (p.Val1334=)
c.3882C>G (p.Val1294=)
c.3978C>G (p.Val1326=)
c.3924C>G (p.Val1308=)
c.3885C>G (p.Val1295=)
c.3834C>G (p.Val1278=)
c.966C>G (p.Val322=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743850C>TCA503770317ASXL3c.4005C>T (p.Val1335=)
c.4002C>T (p.Val1334=)
c.3882C>T (p.Val1294=)
c.3978C>T (p.Val1326=)
c.3924C>T (p.Val1308=)
c.3885C>T (p.Val1295=)
c.3834C>T (p.Val1278=)
c.966C>T (p.Val322=)
18g.33743851T>ACA402189402ASXL3c.4006T>A (p.Ser1336Thr)
c.4003T>A (p.Ser1335Thr)
c.3883T>A (p.Ser1295Thr)
c.3979T>A (p.Ser1327Thr)
c.3925T>A (p.Ser1309Thr)
c.3886T>A (p.Ser1296Thr)
c.3835T>A (p.Ser1279Thr)
c.967T>A (p.Ser323Thr)
18g.33743851T>CCA402189396ASXL3c.4006T>C (p.Ser1336Pro)
c.4003T>C (p.Ser1335Pro)
c.3883T>C (p.Ser1295Pro)
c.3979T>C (p.Ser1327Pro)
c.3925T>C (p.Ser1309Pro)
c.3886T>C (p.Ser1296Pro)
c.3835T>C (p.Ser1279Pro)
c.967T>C (p.Ser323Pro)
dbSNP gnomAD v3 gnomAD v4
18g.33743851T>GCA402189399ASXL3c.4006T>G (p.Ser1336Ala)
c.4003T>G (p.Ser1335Ala)
c.3883T>G (p.Ser1295Ala)
c.3979T>G (p.Ser1327Ala)
c.3925T>G (p.Ser1309Ala)
c.3886T>G (p.Ser1296Ala)
c.3835T>G (p.Ser1279Ala)
c.967T>G (p.Ser323Ala)
18g.33743851T=CA2294857868ASXL3c.4006T= (p.Ser1336=)
c.4003T= (p.Ser1335=)
c.3883T= (p.Ser1295=)
c.3979T= (p.Ser1327=)
c.3925T= (p.Ser1309=)
c.3886T= (p.Ser1296=)
c.3835T= (p.Ser1279=)
c.967T= (p.Ser323=)
18g.33743852C>ACA402189406ASXL3c.4007C>A (p.Ser1336Tyr)
c.4004C>A (p.Ser1335Tyr)
c.3884C>A (p.Ser1295Tyr)
c.3980C>A (p.Ser1327Tyr)
c.3926C>A (p.Ser1309Tyr)
c.3887C>A (p.Ser1296Tyr)
c.3836C>A (p.Ser1279Tyr)
c.968C>A (p.Ser323Tyr)
18g.33743852C=CA2294857869ASXL3c.4007C= (p.Ser1336=)
c.4004C= (p.Ser1335=)
c.3884C= (p.Ser1295=)
c.3980C= (p.Ser1327=)
c.3926C= (p.Ser1309=)
c.3887C= (p.Ser1296=)
c.3836C= (p.Ser1279=)
c.968C= (p.Ser323=)
18g.33743852C>GCA402189409ASXL3c.4007C>G (p.Ser1336Cys)
c.4004C>G (p.Ser1335Cys)
c.3884C>G (p.Ser1295Cys)
c.3980C>G (p.Ser1327Cys)
c.3926C>G (p.Ser1309Cys)
c.3887C>G (p.Ser1296Cys)
c.3836C>G (p.Ser1279Cys)
c.968C>G (p.Ser323Cys)
18g.33743852C>TCA402189412ASXL3c.4007C>T (p.Ser1336Phe)
c.4004C>T (p.Ser1335Phe)
c.3884C>T (p.Ser1295Phe)
c.3980C>T (p.Ser1327Phe)
c.3926C>T (p.Ser1309Phe)
c.3887C>T (p.Ser1296Phe)
c.3836C>T (p.Ser1279Phe)
c.968C>T (p.Ser323Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743853C>ACA503770322ASXL3c.4008C>A (p.Ser1336=)
c.4005C>A (p.Ser1335=)
c.3885C>A (p.Ser1295=)
c.3981C>A (p.Ser1327=)
c.3927C>A (p.Ser1309=)
c.3888C>A (p.Ser1296=)
c.3837C>A (p.Ser1279=)
c.969C>A (p.Ser323=)
18g.33743853C=CA2294857870ASXL3c.4008C= (p.Ser1336=)
c.4005C= (p.Ser1335=)
c.3885C= (p.Ser1295=)
c.3981C= (p.Ser1327=)
c.3927C= (p.Ser1309=)
c.3888C= (p.Ser1296=)
c.3837C= (p.Ser1279=)
c.969C= (p.Ser323=)
18g.33743853C>GCA503770325ASXL3c.4008C>G (p.Ser1336=)
c.4005C>G (p.Ser1335=)
c.3885C>G (p.Ser1295=)
c.3981C>G (p.Ser1327=)
c.3927C>G (p.Ser1309=)
c.3888C>G (p.Ser1296=)
c.3837C>G (p.Ser1279=)
c.969C>G (p.Ser323=)
18g.33743853C>TCA8934152ASXL3c.4008C>T (p.Ser1336=)
c.4005C>T (p.Ser1335=)
c.3885C>T (p.Ser1295=)
c.3981C>T (p.Ser1327=)
c.3927C>T (p.Ser1309=)
c.3888C>T (p.Ser1296=)
c.3837C>T (p.Ser1279=)
c.969C>T (p.Ser323=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743854A>CCA402189418ASXL3c.4009A>C (p.Thr1337Pro)
c.4006A>C (p.Thr1336Pro)
c.3886A>C (p.Thr1296Pro)
c.3982A>C (p.Thr1328Pro)
c.3928A>C (p.Thr1310Pro)
c.3889A>C (p.Thr1297Pro)
c.3838A>C (p.Thr1280Pro)
c.970A>C (p.Thr324Pro)
18g.33743854A>GCA402189421ASXL3c.4009A>G (p.Thr1337Ala)
c.4006A>G (p.Thr1336Ala)
c.3886A>G (p.Thr1296Ala)
c.3982A>G (p.Thr1328Ala)
c.3928A>G (p.Thr1310Ala)
c.3889A>G (p.Thr1297Ala)
c.3838A>G (p.Thr1280Ala)
c.970A>G (p.Thr324Ala)
18g.33743854A>TCA402189424ASXL3c.4009A>T (p.Thr1337Ser)
c.4006A>T (p.Thr1336Ser)
c.3886A>T (p.Thr1296Ser)
c.3982A>T (p.Thr1328Ser)
c.3928A>T (p.Thr1310Ser)
c.3889A>T (p.Thr1297Ser)
c.3838A>T (p.Thr1280Ser)
c.970A>T (p.Thr324Ser)
18g.33743855C>ACA8934153ASXL3c.4010C>A (p.Thr1337Asn)
c.4007C>A (p.Thr1336Asn)
c.3887C>A (p.Thr1296Asn)
c.3983C>A (p.Thr1328Asn)
c.3929C>A (p.Thr1310Asn)
c.3890C>A (p.Thr1297Asn)
c.3839C>A (p.Thr1280Asn)
c.971C>A (p.Thr324Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743855C=CA2294857871ASXL3c.4010C= (p.Thr1337=)
c.4007C= (p.Thr1336=)
c.3887C= (p.Thr1296=)
c.3983C= (p.Thr1328=)
c.3929C= (p.Thr1310=)
c.3890C= (p.Thr1297=)
c.3839C= (p.Thr1280=)
c.971C= (p.Thr324=)
18g.33743855C>GCA402189430ASXL3c.4010C>G (p.Thr1337Ser)
c.4007C>G (p.Thr1336Ser)
c.3887C>G (p.Thr1296Ser)
c.3983C>G (p.Thr1328Ser)
c.3929C>G (p.Thr1310Ser)
c.3890C>G (p.Thr1297Ser)
c.3839C>G (p.Thr1280Ser)
c.971C>G (p.Thr324Ser)
dbSNP gnomAD v2 gnomAD v4
18g.33743855C>TCA402189432ASXL3c.4010C>T (p.Thr1337Ile)
c.4007C>T (p.Thr1336Ile)
c.3887C>T (p.Thr1296Ile)
c.3983C>T (p.Thr1328Ile)
c.3929C>T (p.Thr1310Ile)
c.3890C>T (p.Thr1297Ile)
c.3839C>T (p.Thr1280Ile)
c.971C>T (p.Thr324Ile)

Number of alleles fetched