Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.33740509_33743845delinsAGAAGCCTAGGTGTAC | CA2740091793 | ASXL3 | c.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 |
18 | g.33743755A= | CA2294857830 | ASXL3 | c.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=) | |
18 | g.33743755A>C | CA402188728 | ASXL3 | c.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 |
18 | g.33743755A>G | CA8934139 | ASXL3 | c.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 |
18 | g.33743755A>T | CA402188734 | ASXL3 | c.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) | |
18 | g.33743756C>A | CA402188738 | ASXL3 | c.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) | |
18 | g.33743756C>G | CA402188742 | ASXL3 | c.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) | |
18 | g.33743756C>T | CA402188745 | ASXL3 | c.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) | |
18 | g.33743757T>A | CA503769930 | ASXL3 | c.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=) | |
18 | g.33743757T>C | CA503769932 | ASXL3 | c.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=) | |
18 | g.33743757T>G | CA503769933 | ASXL3 | c.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=) | |
18 | g.33743758C>A | CA402188753 | ASXL3 | c.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) | |
18 | g.33743758C>G | CA402188751 | ASXL3 | c.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) | |
18 | g.33743758C>T | CA402188750 | ASXL3 | c.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) | |
18 | g.33743759C>A | CA402188759 | ASXL3 | c.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 |
18 | g.33743759C= | CA2294857831 | ASXL3 | c.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=) | |
18 | g.33743759C>G | CA402188761 | ASXL3 | c.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) | |
18 | g.33743759C>T | CA402188764 | ASXL3 | c.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 |
18 | g.33743760C>A | CA503769937 | ASXL3 | c.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=) | |
18 | g.33743760C>G | CA503769939 | ASXL3 | c.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=) | |
18 | g.33743760C>T | CA503769936 | ASXL3 | c.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=) | |
18 | g.33743761A>C | CA402188768 | ASXL3 | c.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) | |
18 | g.33743761A>G | CA402188770 | ASXL3 | c.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) | |
18 | g.33743761A>T | CA402188773 | ASXL3 | c.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) | |
18 | g.33743762T>A | CA402188783 | ASXL3 | c.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) | |
18 | g.33743762T>C | CA402188777 | ASXL3 | c.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) | |
18 | g.33743762T>G | CA402188780 | ASXL3 | c.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) | |
18 | g.33743763T>A | CA503769949 | ASXL3 | c.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=) | |
18 | g.33743763T>C | CA503769946 | ASXL3 | c.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=) | |
18 | g.33743763T>G | CA402188786 | ASXL3 | c.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) | |
18 | g.33743764T>A | CA402188791 | ASXL3 | c.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) | |
18 | g.33743764T>C | CA402188794 | ASXL3 | c.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) | |
18 | g.33743764T>G | CA402188796 | ASXL3 | c.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 |
18 | g.33743765C>A | CA402188800 | ASXL3 | c.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) | |
18 | g.33743765C>G | CA402188803 | ASXL3 | c.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) | |
18 | g.33743765C>T | CA402188805 | ASXL3 | c.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) | |
18 | g.33743766A>C | CA503769956 | ASXL3 | c.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=) | |
18 | g.33743766A>G | CA503769965 | ASXL3 | c.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=) | |
18 | g.33743766A>T | CA503769964 | ASXL3 | c.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=) | |
18 | g.33743767G>A | CA402188808 | ASXL3 | c.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 |
18 | g.33743767G>C | CA402188810 | ASXL3 | c.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 |
18 | g.33743767G>T | CA402188812 | ASXL3 | c.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 |
18 | g.33743768C>A | CA402188816 | ASXL3 | c.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) | |
18 | g.33743768C>G | CA402188818 | ASXL3 | c.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) | |
18 | g.33743768C>T | CA402188821 | ASXL3 | c.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) | |
18 | g.33743769C>A | CA503769974 | ASXL3 | c.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=) | |
18 | g.33743769C= | CA2294857832 | ASXL3 | c.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=) | |
18 | g.33743769C>G | CA503769976 | ASXL3 | c.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 |
18 | g.33743769C>T | CA503769978 | ASXL3 | c.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 |
18 | g.33743770A>C | CA402188832 | ASXL3 | c.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) | |
18 | g.33743770A>G | CA402188826 | ASXL3 | c.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) | |
18 | g.33743770A>T | CA402188830 | ASXL3 | c.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) | |
18 | g.33743771C>A | CA402188835 | ASXL3 | c.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) | |
18 | g.33743771C>G | CA402188841 | ASXL3 | c.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) | |
18 | g.33743771C>T | CA402188838 | ASXL3 | c.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 |
18 | g.33743772T>A | CA503769983 | ASXL3 | c.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=) | |
18 | g.33743772T>C | CA503769986 | ASXL3 | c.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=) | |
18 | g.33743772T>G | CA503769989 | ASXL3 | c.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=) | |
18 | g.33743772_33743773del | CA2542545564 | ASXL3 | c.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) | |
18 | g.33743773A= | CA2294857833 | ASXL3 | c.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=) | |
18 | g.33743773A>C | CA402188845 | ASXL3 | c.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) | |
18 | g.33743773A>G | CA8934140 | ASXL3 | c.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 |
18 | g.33743773A>T | CA402188847 | ASXL3 | c.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) | |
18 | g.33743774C>A | CA402188853 | ASXL3 | c.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) | |
18 | g.33743774C>G | CA402188855 | ASXL3 | c.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 |
18 | g.33743774C>T | CA402188857 | ASXL3 | c.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) | |
18 | g.33743775A>C | CA503769997 | ASXL3 | c.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=) | |
18 | g.33743775A>G | CA503769999 | ASXL3 | c.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=) | |
18 | g.33743775A>T | CA503770001 | ASXL3 | c.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=) | |
18 | g.33743775_33743776insAG | CA2566674930 | ASXL3 | c.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) | |
18 | g.33743776G>A | CA402188860 | ASXL3 | c.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 |
18 | g.33743776G>C | CA402188863 | ASXL3 | c.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) | |
18 | g.33743776G= | CA2294857834 | ASXL3 | c.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=) | |
18 | g.33743776G>T | CA402188865 | ASXL3 | c.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) | |
18 | g.33743777A= | CA2294857835 | ASXL3 | c.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=) | |
18 | g.33743777A>C | CA8934141 | ASXL3 | c.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 |
18 | g.33743777A>G | CA402188872 | ASXL3 | c.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 |
18 | g.33743777A>T | CA402188874 | ASXL3 | c.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) | |
18 | g.33743778G>A | CA503770004 | ASXL3 | c.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 |
18 | g.33743778G>C | CA402188877 | ASXL3 | c.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) | |
18 | g.33743778G= | CA2294857836 | ASXL3 | c.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=) | |
18 | g.33743778G>T | CA402188878 | ASXL3 | c.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) | |
18 | g.33743779G>A | CA402188879 | ASXL3 | c.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 |
18 | g.33743779G>C | CA402188880 | ASXL3 | c.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) | |
18 | g.33743779G>T | CA402188882 | ASXL3 | c.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) | |
18 | g.33743780G>A | CA8934142 | ASXL3 | c.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 |
18 | g.33743780G>C | CA402188884 | ASXL3 | c.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) | |
18 | g.33743780G= | CA2294857837 | ASXL3 | c.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=) | |
18 | g.33743780G>T | CA402188886 | ASXL3 | c.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) | |
18 | g.33743781C>A | CA503770016 | ASXL3 | c.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 |
18 | g.33743781C= | CA2294857838 | ASXL3 | c.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=) | |
18 | g.33743781C>G | CA503770021 | ASXL3 | c.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=) | |
18 | g.33743781C>T | CA503770018 | ASXL3 | c.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 |
18 | g.33743782T>A | CA402188890 | ASXL3 | c.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) | |
18 | g.33743782T>C | CA402188892 | ASXL3 | c.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) | |
18 | g.33743782T>G | CA402188896 | ASXL3 | c.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) | |
18 | g.33743783C>A | CA402188899 | ASXL3 | c.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) | |
18 | g.33743783C= | CA2294857839 | ASXL3 | c.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=) | |
18 | g.33743783C>G | CA402188901 | ASXL3 | c.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 |
18 | g.33743783C>T | CA402188904 | ASXL3 | c.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 |
18 | g.33743784del | CA645603028 | ASXL3 | c.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 |
18 | g.33743784C>A | CA503770031 | ASXL3 | c.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=) | |
18 | g.33743784C>G | CA503770032 | ASXL3 | c.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=) | |
18 | g.33743784C>T | CA503770033 | ASXL3 | c.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 |
18 | g.33743785A= | CA2294857840 | ASXL3 | c.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=) | |
18 | g.33743785A>C | CA297793231 | ASXL3 | c.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 |
18 | g.33743785A>G | CA402188916 | ASXL3 | c.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) | |
18 | g.33743785A>T | CA402188912 | ASXL3 | c.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) | |
18 | g.33743786G>A | CA402188920 | ASXL3 | c.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) | |
18 | g.33743786G>C | CA402188925 | ASXL3 | c.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) | |
18 | g.33743786G>T | CA402188923 | ASXL3 | c.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 |
18 | g.33743787C>A | CA402188927 | ASXL3 | c.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) | |
18 | g.33743787C>G | CA402188931 | ASXL3 | c.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) | |
18 | g.33743787C>T | CA503770047 | ASXL3 | c.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=) | |
18 | g.33743788A= | CA2294857841 | ASXL3 | c.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=) | |
18 | g.33743788A>C | CA402188935 | ASXL3 | c.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 |
18 | g.33743788A>G | CA8934143 | ASXL3 | c.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 |
18 | g.33743788A>T | CA402188938 | ASXL3 | c.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) | |
18 | g.33743788_33743791del | CA2535609441 | ASXL3 | c.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) | |
18 | g.33743789T>A | CA402188941 | ASXL3 | c.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 |
18 | g.33743789T>C | CA402188943 | ASXL3 | c.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 |
18 | g.33743789T>G | CA402188945 | ASXL3 | c.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) | |
18 | g.33743789T= | CA2294857842 | ASXL3 | c.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=) | |
18 | g.33743790A= | CA2294857843 | ASXL3 | c.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=) | |
18 | g.33743790A>C | CA503770054 | ASXL3 | c.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=) | |
18 | g.33743790A>G | CA402188947 | ASXL3 | c.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 |
18 | g.33743790A>T | CA503770056 | ASXL3 | c.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=) | |
18 | g.33743791T>A | CA402188950 | ASXL3 | c.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) | |
18 | g.33743791T>C | CA402188954 | ASXL3 | c.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) | |
18 | g.33743791T>G | CA402188957 | ASXL3 | c.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) | |
18 | g.33743792C>A | CA402188965 | ASXL3 | c.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) | |
18 | g.33743792C= | CA2294857844 | ASXL3 | c.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=) | |
18 | g.33743792C>G | CA402188961 | ASXL3 | c.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 |
18 | g.33743792C>T | CA297793237 | ASXL3 | c.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 |
18 | g.33743793A>C | CA503770069 | ASXL3 | c.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=) | |
18 | g.33743793A>G | CA503770070 | ASXL3 | c.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=) | |
18 | g.33743793A>T | CA503770071 | ASXL3 | c.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=) | |
18 | g.33743793_33743794insGGTG | CA2540531965 | ASXL3 | c.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) | |
18 | g.33743794A>C | CA402188969 | ASXL3 | c.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) | |
18 | g.33743794A>G | CA402188972 | ASXL3 | c.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 |
18 | g.33743794A>T | CA402188975 | ASXL3 | c.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) | |
18 | g.33743795G>A | CA8934144 | ASXL3 | c.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 |
18 | g.33743795G>C | CA402188982 | ASXL3 | c.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 |
18 | g.33743795G= | CA2294857845 | ASXL3 | c.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=) | |
18 | g.33743795G>T | CA402188984 | ASXL3 | c.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 |
18 | g.33743796C>A | CA402188986 | ASXL3 | c.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) | |
18 | g.33743796C= | CA2294857846 | ASXL3 | c.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=) | |
18 | g.33743796C>G | CA402188989 | ASXL3 | c.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) | |
18 | g.33743796C>T | CA503770077 | ASXL3 | c.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 |
18 | g.33743797T>A | CA402188993 | ASXL3 | c.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) | |
18 | g.33743797T>C | CA402188996 | ASXL3 | c.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 |
18 | g.33743797T>G | CA402188999 | ASXL3 | c.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) | |
18 | g.33743798C>A | CA402189007 | ASXL3 | c.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) | |
18 | g.33743798C>G | CA402189005 | ASXL3 | c.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) | |
18 | g.33743798C>T | CA402189002 | ASXL3 | c.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) | |
18 | g.33743799C>A | CA503770091 | ASXL3 | c.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=) | |
18 | g.33743799C>G | CA503770092 | ASXL3 | c.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=) | |
18 | g.33743799C>T | CA503770094 | ASXL3 | c.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 |
18 | g.33743800A= | CA2294857847 | ASXL3 | c.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=) | |
18 | g.33743800A>C | CA402189011 | ASXL3 | c.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) | |
18 | g.33743800A>G | CA8934145 | ASXL3 | c.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 |
18 | g.33743800A>T | CA402189017 | ASXL3 | c.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) | |
18 | g.33743801T>A | CA402189022 | ASXL3 | c.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) | |
18 | g.33743801T>C | CA402189024 | ASXL3 | c.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 |
18 | g.33743801T>G | CA402189027 | ASXL3 | c.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) | |
18 | g.33743801T= | CA2294857848 | ASXL3 | c.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=) | |
18 | g.33743802G>A | CA402189031 | ASXL3 | c.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 |
18 | g.33743802G>C | CA402189033 | ASXL3 | c.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) | |
18 | g.33743802G= | CA2294857849 | ASXL3 | c.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=) | |
18 | g.33743802G>T | CA402189035 | ASXL3 | c.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) | |
18 | g.33743803G>A | CA402189049 | ASXL3 | c.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 |
18 | g.33743803G>C | CA402189052 | ASXL3 | c.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) | |
18 | g.33743803G= | CA2294857850 | ASXL3 | c.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=) | |
18 | g.33743803G>T | CA8934146 | ASXL3 | c.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 |
18 | g.33743804A>C | CA402189065 | ASXL3 | c.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) | |
18 | g.33743804A>G | CA402189063 | ASXL3 | c.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) | |
18 | g.33743804A>T | CA402189060 | ASXL3 | c.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) | |
18 | g.33743805T>A | CA402189068 | ASXL3 | c.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) | |
18 | g.33743805T>C | CA503770124 | ASXL3 | c.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 |
18 | g.33743805T>G | CA402189071 | ASXL3 | c.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) | |
18 | g.33743806G>A | CA297793253 | ASXL3 | c.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 |
18 | g.33743806G>C | CA402189077 | ASXL3 | c.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) | |
18 | g.33743806G= | CA2294857851 | ASXL3 | c.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=) | |
18 | g.33743806G>T | CA402189079 | ASXL3 | c.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) | |
18 | g.33743807A>C | CA402189083 | ASXL3 | c.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) | |
18 | g.33743807A>G | CA402189086 | ASXL3 | c.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) | |
18 | g.33743807A>T | CA402189090 | ASXL3 | c.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) | |
18 | g.33743808T>A | CA402189094 | ASXL3 | c.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) | |
18 | g.33743808T>C | CA503770139 | ASXL3 | c.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=) | |
18 | g.33743808T>G | CA402189097 | ASXL3 | c.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) | |
18 | g.33743809A>C | CA402189101 | ASXL3 | c.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) | |
18 | g.33743809A>G | CA402189102 | ASXL3 | c.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) | |
18 | g.33743809A>T | CA402189106 | ASXL3 | c.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) | |
18 | g.33743810A>C | CA402189113 | ASXL3 | c.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) | |
18 | g.33743810A>G | CA402189116 | ASXL3 | c.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) | |
18 | g.33743810A>T | CA402189110 | ASXL3 | c.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 |
18 | g.33743811G>A | CA503770153 | ASXL3 | c.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 |
18 | g.33743811G>C | CA402189121 | ASXL3 | c.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) | |
18 | g.33743811G>T | CA402189118 | ASXL3 | c.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) | |
18 | g.33743812C>A | CA402189129 | ASXL3 | c.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) | |
18 | g.33743812C= | CA2294857852 | ASXL3 | c.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=) | |
18 | g.33743812C>G | CA402189125 | ASXL3 | c.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) | |
18 | g.33743812C>T | CA402189132 | ASXL3 | c.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 |
18 | g.33743813A= | CA2294857853 | ASXL3 | c.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=) | |
18 | g.33743813A>C | CA402189134 | ASXL3 | c.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 |
18 | g.33743813A>G | CA402189140 | ASXL3 | c.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) | |
18 | g.33743813A>T | CA402189136 | ASXL3 | c.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 |
18 | g.33743814G>A | CA503770164 | ASXL3 | c.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=) | |
18 | g.33743814G>C | CA402189143 | ASXL3 | c.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) | |
18 | g.33743814G>T | CA402189144 | ASXL3 | c.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) | |
18 | g.33743815T>A | CA402189152 | ASXL3 | c.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) | |
18 | g.33743815T>C | CA503770169 | ASXL3 | c.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 |
18 | g.33743815T>G | CA402189154 | ASXL3 | c.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) | |
18 | g.33743815T= | CA2294857854 | ASXL3 | c.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=) | |
18 | g.33743816T>A | CA402189156 | ASXL3 | c.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) | |
18 | g.33743816T>C | CA297793255 | ASXL3 | c.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 |
18 | g.33743816T>G | CA402189159 | ASXL3 | c.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) | |
18 | g.33743816T= | CA2294857855 | ASXL3 | c.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=) | |
18 | g.33743817A>C | CA402189162 | ASXL3 | c.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) | |
18 | g.33743817A>G | CA503770175 | ASXL3 | c.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=) | |
18 | g.33743817A>T | CA402189166 | ASXL3 | c.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) | |
18 | g.33743818C>A | CA8934147 | ASXL3 | c.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 |
18 | g.33743818C= | CA2294857856 | ASXL3 | c.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=) | |
18 | g.33743818C>G | CA402189172 | ASXL3 | c.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 |
18 | g.33743818C>T | CA503770185 | ASXL3 | c.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=) | |
18 | g.33743819T>A | CA402189175 | ASXL3 | c.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 |
18 | g.33743819T>C | CA402189177 | ASXL3 | c.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) | |
18 | g.33743819T>G | CA402189180 | ASXL3 | c.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) | |
18 | g.33743820A>C | CA503770192 | ASXL3 | c.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=) | |
18 | g.33743820A>G | CA503770193 | ASXL3 | c.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=) | |
18 | g.33743820A>T | CA503770195 | ASXL3 | c.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=) | |
18 | g.33743821A= | CA2294857857 | ASXL3 | c.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=) | |
18 | g.33743821A>C | CA402189188 | ASXL3 | c.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) | |
18 | g.33743821A>G | CA402189192 | ASXL3 | c.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 |
18 | g.33743821A>T | CA402189190 | ASXL3 | c.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) | |
18 | g.33743822T>A | CA402189197 | ASXL3 | c.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) | |
18 | g.33743822T>C | CA402189199 | ASXL3 | c.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) | |
18 | g.33743822T>G | CA402189201 | ASXL3 | c.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) | |
18 | g.33743823A= | CA2294857858 | ASXL3 | c.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=) | |
18 | g.33743823A>C | CA503770206 | ASXL3 | c.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=) | |
18 | g.33743823A>G | CA402189205 | ASXL3 | c.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 |
18 | g.33743823A>T | CA503770208 | ASXL3 | c.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=) | |
18 | g.33743824T>A | CA402189207 | ASXL3 | c.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) | |
18 | g.33743824T>C | CA8934148 | ASXL3 | c.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 |
18 | g.33743824T>G | CA402189211 | ASXL3 | c.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) | |
18 | g.33743824T= | CA2294857859 | ASXL3 | c.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=) | |
18 | g.33743825C>A | CA402189215 | ASXL3 | c.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) | |
18 | g.33743825C>G | CA402189217 | ASXL3 | c.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) | |
18 | g.33743825C>T | CA402189221 | ASXL3 | c.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) | |
18 | g.33743826A>C | CA503770222 | ASXL3 | c.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=) | |
18 | g.33743826A>G | CA503770223 | ASXL3 | c.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=) | |
18 | g.33743826A>T | CA503770224 | ASXL3 | c.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=) | |
18 | g.33743827A>C | CA402189225 | ASXL3 | c.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) | |
18 | g.33743827A>G | CA402189231 | ASXL3 | c.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) | |
18 | g.33743827A>T | CA402189228 | ASXL3 | c.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) | |
18 | g.33743828G>A | CA402189234 | ASXL3 | c.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) | |
18 | g.33743828G>C | CA402189236 | ASXL3 | c.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) | |
18 | g.33743828G>T | CA402189237 | ASXL3 | c.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 |
18 | g.33743829C>A | CA402189239 | ASXL3 | c.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) | |
18 | g.33743829C= | CA2294857860 | ASXL3 | c.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=) | |
18 | g.33743829C>G | CA402189242 | ASXL3 | c.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) | |
18 | g.33743829C>T | CA8934149 | ASXL3 | c.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 |
18 | g.33743830A>C | CA402189247 | ASXL3 | c.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) | |
18 | g.33743830A>G | CA402189248 | ASXL3 | c.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) | |
18 | g.33743830A>T | CA402189251 | ASXL3 | c.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) | |
18 | g.33743831G>A | CA402189255 | ASXL3 | c.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 |
18 | g.33743831G>C | CA402189258 | ASXL3 | c.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) | |
18 | g.33743831G>T | CA402189261 | ASXL3 | c.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) | |
18 | g.33743832C>A | CA402189264 | ASXL3 | c.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) | |
18 | g.33743832C>G | CA402189267 | ASXL3 | c.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) | |
18 | g.33743832C>T | CA503770242 | ASXL3 | c.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 |
18 | g.33743833A= | CA2294857861 | ASXL3 | c.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=) | |
18 | g.33743833A>C | CA402189271 | ASXL3 | c.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) | |
18 | g.33743833A>G | CA8934150 | ASXL3 | c.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 |
18 | g.33743833A>T | CA402189276 | ASXL3 | c.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 |
18 | g.33743834G>A | CA402189280 | ASXL3 | c.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) | |
18 | g.33743834G>C | CA402189283 | ASXL3 | c.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) | |
18 | g.33743834G>T | CA402189286 | ASXL3 | c.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) | |
18 | g.33743835T>A | CA402189290 | ASXL3 | c.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) | |
18 | g.33743835T>C | CA503770256 | ASXL3 | c.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 |
18 | g.33743835T>G | CA402189292 | ASXL3 | c.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) | |
18 | g.33743836G>A | CA297793263 | ASXL3 | c.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 |
18 | g.33743836G>C | CA402189297 | ASXL3 | c.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) | |
18 | g.33743836G= | CA2294857862 | ASXL3 | c.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=) | |
18 | g.33743836G>T | CA402189299 | ASXL3 | c.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) | |
18 | g.33743837C>A | CA402189306 | ASXL3 | c.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 |
18 | g.33743837C= | CA2294857863 | ASXL3 | c.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=) | |
18 | g.33743837C>G | CA402189309 | ASXL3 | c.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) | |
18 | g.33743837C>T | CA402189304 | ASXL3 | c.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 |
18 | g.33743838T>A | CA503770268 | ASXL3 | c.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=) | |
18 | g.33743838T>C | CA503770270 | ASXL3 | c.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 |
18 | g.33743838T>G | CA503770272 | ASXL3 | c.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=) | |
18 | g.33743838T= | CA2294857864 | ASXL3 | c.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=) | |
18 | g.33743839A>C | CA402189317 | ASXL3 | c.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) | |
18 | g.33743839A>G | CA402189313 | ASXL3 | c.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) | |
18 | g.33743839A>T | CA402189315 | ASXL3 | c.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) | |
18 | g.33743840G>A | CA402189321 | ASXL3 | c.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 |
18 | g.33743840G>C | CA402189323 | ASXL3 | c.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) | |
18 | g.33743840G= | CA2294857865 | ASXL3 | c.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=) | |
18 | g.33743840G>T | CA402189326 | ASXL3 | c.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) | |
18 | g.33743841T>A | CA402189330 | ASXL3 | c.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 |
18 | g.33743841T>C | CA503770283 | ASXL3 | c.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=) | |
18 | g.33743841T>G | CA402189331 | ASXL3 | c.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) | |
18 | g.33743842A>C | CA402189334 | ASXL3 | c.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) | |
18 | g.33743842A>G | CA402189336 | ASXL3 | c.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) | |
18 | g.33743842A>T | CA402189338 | ASXL3 | c.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) | |
18 | g.33743843A>C | CA402189340 | ASXL3 | c.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) | |
18 | g.33743843A>G | CA402189343 | ASXL3 | c.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) | |
18 | g.33743843A>T | CA402189345 | ASXL3 | c.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 |
18 | g.33743844C>A | CA402189351 | ASXL3 | c.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) | |
18 | g.33743844C= | CA2294857866 | ASXL3 | c.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=) | |
18 | g.33743844C>G | CA402189348 | ASXL3 | c.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 |
18 | g.33743844C>T | CA503770290 | ASXL3 | c.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=) | |
18 | g.33743845T>A | CA402189355 | ASXL3 | c.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) | |
18 | g.33743845T>C | CA503770295 | ASXL3 | c.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=) | |
18 | g.33743845T>G | CA402189356 | ASXL3 | c.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) | |
18 | g.33743846T>A | CA402189360 | ASXL3 | c.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) | |
18 | g.33743846T>C | CA402189363 | ASXL3 | c.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) | |
18 | g.33743846T>G | CA402189365 | ASXL3 | c.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) | |
18 | g.33743847A>C | CA402189367 | ASXL3 | c.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) | |
18 | g.33743847A>G | CA503770302 | ASXL3 | c.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=) | |
18 | g.33743847A>T | CA402189370 | ASXL3 | c.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) | |
18 | g.33743848G>A | CA402189374 | ASXL3 | c.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 |
18 | g.33743848G>C | CA402189377 | ASXL3 | c.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) | |
18 | g.33743848G>T | CA402189380 | ASXL3 | c.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) | |
18 | g.33743849T>A | CA402189385 | ASXL3 | c.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) | |
18 | g.33743849T>C | CA402189389 | ASXL3 | c.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) | |
18 | g.33743849T>G | CA402189391 | ASXL3 | c.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 |
18 | g.33743850C>A | CA503770311 | ASXL3 | c.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=) | |
18 | g.33743850C= | CA2294857867 | ASXL3 | c.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=) | |
18 | g.33743850C>G | CA8934151 | ASXL3 | c.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 |
18 | g.33743850C>T | CA503770317 | ASXL3 | c.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=) | |
18 | g.33743851T>A | CA402189402 | ASXL3 | c.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) | |
18 | g.33743851T>C | CA402189396 | ASXL3 | c.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 |
18 | g.33743851T>G | CA402189399 | ASXL3 | c.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) | |
18 | g.33743851T= | CA2294857868 | ASXL3 | c.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=) | |
18 | g.33743852C>A | CA402189406 | ASXL3 | c.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) | |
18 | g.33743852C= | CA2294857869 | ASXL3 | c.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=) | |
18 | g.33743852C>G | CA402189409 | ASXL3 | c.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) | |
18 | g.33743852C>T | CA402189412 | ASXL3 | c.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 |
18 | g.33743853C>A | CA503770322 | ASXL3 | c.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=) | |
18 | g.33743853C= | CA2294857870 | ASXL3 | c.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=) | |
18 | g.33743853C>G | CA503770325 | ASXL3 | c.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=) | |
18 | g.33743853C>T | CA8934152 | ASXL3 | c.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 |
18 | g.33743854A>C | CA402189418 | ASXL3 | c.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) | |
18 | g.33743854A>G | CA402189421 | ASXL3 | c.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) | |
18 | g.33743854A>T | CA402189424 | ASXL3 | c.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) | |
18 | g.33743855C>A | CA8934153 | ASXL3 | c.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 |
18 | g.33743855C= | CA2294857871 | ASXL3 | c.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=) | |
18 | g.33743855C>G | CA402189430 | ASXL3 | c.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 |
18 | g.33743855C>T | CA402189432 | ASXL3 | c.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) |