| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.32436344_32436348delinsACTCC | CA2360293654 | ASXL1 | c.3632_3636delinsACTCC (p.Asp1211=) c.3449_3453delinsACTCC (p.Asp1150=) n.5985_5989delinsACTCC c.1869+1763_1869+1767delinsACTCC (n.1869+1763_1869+1767delinsACTCC) c.3617_3621delinsACTCC (p.Asp1206=) c.3629_3633delinsACTCC (p.Asp1210=) c.3602_3606delinsACTCC (p.Asp1201=) c.3548_3552delinsACTCC (p.Asp1183=) c.2948_2952delinsACTCC (p.Asp983=) c.3896_3900delinsACTCC (p.Asp1299=) c.3893_3897delinsACTCC (p.Asp1298=) c.3812_3816delinsACTCC (p.Asp1271=) c.3743_3747delinsACTCC (p.Asp1248=) c.3611_3615delinsACTCC (p.Asp1204=) c.3479_3483delinsACTCC (p.Asp1160=) | |
| 20 | g.32436349_32436352dup | CA2577366315 | ASXL1 | c.3637_3640dup (p.His1214ProfsTer12) c.3454_3457dup (p.His1153ProfsTer12) n.5990_5993dup c.1869+1768_1869+1771dup (n.1869+1768_1869+1771dup) c.3622_3625dup (p.His1209ProfsTer12) c.3634_3637dup (p.His1213ProfsTer12) c.3607_3610dup (p.His1204ProfsTer12) c.3553_3556dup (p.His1186ProfsTer12) c.2953_2956dup (p.His986ProfsTer12) c.3901_3904dup (p.His1302ProfsTer12) c.3898_3901dup (p.His1301ProfsTer12) c.3817_3820dup (p.His1274ProfsTer12) c.3748_3751dup (p.His1251ProfsTer12) c.3616_3619dup (p.His1207ProfsTer12) c.3484_3487dup (p.His1163ProfsTer12) | |
| 20 | g.32436349_32436352del | CA645612969 | ASXL1 | c.3637_3640del (p.Leu1213IlefsTer3) c.3454_3457del (p.Leu1152IlefsTer3) n.5990_5993del c.1869+1768_1869+1771del (n.1869+1768_1869+1771del) c.3622_3625del (p.Leu1208IlefsTer3) c.3634_3637del (p.Leu1212IlefsTer3) c.3607_3610del (p.Leu1203IlefsTer3) c.3553_3556del (p.Leu1185IlefsTer3) c.2953_2956del (p.Leu985IlefsTer3) c.3901_3904del (p.Leu1301IlefsTer3) c.3898_3901del (p.Leu1300IlefsTer3) c.3817_3820del (p.Leu1273IlefsTer3) c.3748_3751del (p.Leu1250IlefsTer3) c.3616_3619del (p.Leu1206IlefsTer3) c.3484_3487del (p.Leu1162IlefsTer3) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 20 | g.32436346_32436347delinsTC | CA2360293656 | ASXL1 | c.3634_3635delinsTC (p.Ser1212=) c.3451_3452delinsTC (p.Ser1151=) n.5987_5988delinsTC c.1869+1765_1869+1766delinsTC (n.1869+1765_1869+1766delinsTC) c.3619_3620delinsTC (p.Ser1207=) c.3631_3632delinsTC (p.Ser1211=) c.3604_3605delinsTC (p.Ser1202=) c.3550_3551delinsTC (p.Ser1184=) c.2950_2951delinsTC (p.Ser984=) c.3898_3899delinsTC (p.Ser1300=) c.3895_3896delinsTC (p.Ser1299=) c.3814_3815delinsTC (p.Ser1272=) c.3745_3746delinsTC (p.Ser1249=) c.3613_3614delinsTC (p.Ser1205=) c.3481_3482delinsTC (p.Ser1161=) | |
| 20 | g.32436347C>A | CA408563477 | ASXL1 | c.3635C>A (p.Ser1212Tyr) c.3452C>A (p.Ser1151Tyr) n.5988C>A c.1869+1766C>A (n.1869+1766C>A) c.3620C>A (p.Ser1207Tyr) c.3632C>A (p.Ser1211Tyr) c.3605C>A (p.Ser1202Tyr) c.3551C>A (p.Ser1184Tyr) c.2951C>A (p.Ser984Tyr) c.3899C>A (p.Ser1300Tyr) c.3896C>A (p.Ser1299Tyr) c.3815C>A (p.Ser1272Tyr) c.3746C>A (p.Ser1249Tyr) c.3614C>A (p.Ser1205Tyr) c.3482C>A (p.Ser1161Tyr) | |
| 20 | g.32436347C= | CA2360293658 | ASXL1 | c.3635C= (p.Ser1212=) c.3452C= (p.Ser1151=) n.5988C= c.1869+1766C= (n.1869+1766C=) c.3620C= (p.Ser1207=) c.3632C= (p.Ser1211=) c.3605C= (p.Ser1202=) c.3551C= (p.Ser1184=) c.2951C= (p.Ser984=) c.3899C= (p.Ser1300=) c.3896C= (p.Ser1299=) c.3815C= (p.Ser1272=) c.3746C= (p.Ser1249=) c.3614C= (p.Ser1205=) c.3482C= (p.Ser1161=) | |
| 20 | g.32436347C>G | CA408563478 | ASXL1 | c.3635C>G (p.Ser1212Cys) c.3452C>G (p.Ser1151Cys) n.5988C>G c.1869+1766C>G (n.1869+1766C>G) c.3620C>G (p.Ser1207Cys) c.3632C>G (p.Ser1211Cys) c.3605C>G (p.Ser1202Cys) c.3551C>G (p.Ser1184Cys) c.2951C>G (p.Ser984Cys) c.3899C>G (p.Ser1300Cys) c.3896C>G (p.Ser1299Cys) c.3815C>G (p.Ser1272Cys) c.3746C>G (p.Ser1249Cys) c.3614C>G (p.Ser1205Cys) c.3482C>G (p.Ser1161Cys) | gnomAD v4 |
| 20 | g.32436347C>T | CA236150 | ASXL1 | c.3635C>T (p.Ser1212Phe) c.3452C>T (p.Ser1151Phe) n.5988C>T c.1869+1766C>T (n.1869+1766C>T) c.3620C>T (p.Ser1207Phe) c.3632C>T (p.Ser1211Phe) c.3605C>T (p.Ser1202Phe) c.3551C>T (p.Ser1184Phe) c.2951C>T (p.Ser984Phe) c.3899C>T (p.Ser1300Phe) c.3896C>T (p.Ser1299Phe) c.3815C>T (p.Ser1272Phe) c.3746C>T (p.Ser1249Phe) c.3614C>T (p.Ser1205Phe) c.3482C>T (p.Ser1161Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 20 | g.32436349del | CA645612970 | ASXL1 | c.3637del (p.Leu1213SerfsTer4) c.3454del (p.Leu1152SerfsTer4) n.5990del c.1869+1768del (n.1869+1768del) c.3622del (p.Leu1208SerfsTer4) c.3634del (p.Leu1212SerfsTer4) c.3607del (p.Leu1203SerfsTer4) c.3553del (p.Leu1185SerfsTer4) c.2953del (p.Leu985SerfsTer4) c.3901del (p.Leu1301SerfsTer4) c.3898del (p.Leu1300SerfsTer4) c.3817del (p.Leu1273SerfsTer4) c.3748del (p.Leu1250SerfsTer4) c.3616del (p.Leu1206SerfsTer4) c.3484del (p.Leu1162SerfsTer4) | ClinVar dbSNP COSMIC COSMIC |
| 20 | g.32436348C>A | CA510467370 | ASXL1 | c.3636C>A (p.Ser1212=) c.3453C>A (p.Ser1151=) n.5989C>A c.1869+1767C>A (n.1869+1767C>A) c.3621C>A (p.Ser1207=) c.3633C>A (p.Ser1211=) c.3606C>A (p.Ser1202=) c.3552C>A (p.Ser1184=) c.2952C>A (p.Ser984=) c.3900C>A (p.Ser1300=) c.3897C>A (p.Ser1299=) c.3816C>A (p.Ser1272=) c.3747C>A (p.Ser1249=) c.3615C>A (p.Ser1205=) c.3483C>A (p.Ser1161=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.32436348C= | CA2360293659 | ASXL1 | c.3636C= (p.Ser1212=) c.3453C= (p.Ser1151=) n.5989C= c.1869+1767C= (n.1869+1767C=) c.3621C= (p.Ser1207=) c.3633C= (p.Ser1211=) c.3606C= (p.Ser1202=) c.3552C= (p.Ser1184=) c.2952C= (p.Ser984=) c.3900C= (p.Ser1300=) c.3897C= (p.Ser1299=) c.3816C= (p.Ser1272=) c.3747C= (p.Ser1249=) c.3615C= (p.Ser1205=) c.3483C= (p.Ser1161=) | |
| 20 | g.32436348C>G | CA510467371 | ASXL1 | c.3636C>G (p.Ser1212=) c.3453C>G (p.Ser1151=) n.5989C>G c.1869+1767C>G (n.1869+1767C>G) c.3621C>G (p.Ser1207=) c.3633C>G (p.Ser1211=) c.3606C>G (p.Ser1202=) c.3552C>G (p.Ser1184=) c.2952C>G (p.Ser984=) c.3900C>G (p.Ser1300=) c.3897C>G (p.Ser1299=) c.3816C>G (p.Ser1272=) c.3747C>G (p.Ser1249=) c.3615C>G (p.Ser1205=) c.3483C>G (p.Ser1161=) | |
| 20 | g.32436348C>T | CA510467372 | ASXL1 | c.3636C>T (p.Ser1212=) c.3453C>T (p.Ser1151=) n.5989C>T c.1869+1767C>T (n.1869+1767C>T) c.3621C>T (p.Ser1207=) c.3633C>T (p.Ser1211=) c.3606C>T (p.Ser1202=) c.3552C>T (p.Ser1184=) c.2952C>T (p.Ser984=) c.3900C>T (p.Ser1300=) c.3897C>T (p.Ser1299=) c.3816C>T (p.Ser1272=) c.3747C>T (p.Ser1249=) c.3615C>T (p.Ser1205=) c.3483C>T (p.Ser1161=) | dbSNP gnomAD v4 |
| 20 | g.32436349C>A | CA408563479 | ASXL1 | c.3637C>A (p.Leu1213Ile) c.3454C>A (p.Leu1152Ile) n.5990C>A c.1869+1768C>A (n.1869+1768C>A) c.3622C>A (p.Leu1208Ile) c.3634C>A (p.Leu1212Ile) c.3607C>A (p.Leu1203Ile) c.3553C>A (p.Leu1185Ile) c.2953C>A (p.Leu985Ile) c.3901C>A (p.Leu1301Ile) c.3898C>A (p.Leu1300Ile) c.3817C>A (p.Leu1273Ile) c.3748C>A (p.Leu1250Ile) c.3616C>A (p.Leu1206Ile) c.3484C>A (p.Leu1162Ile) | dbSNP |
| 20 | g.32436349C= | CA2360293660 | ASXL1 | c.3637C= (p.Leu1213=) c.3454C= (p.Leu1152=) n.5990C= c.1869+1768C= (n.1869+1768C=) c.3622C= (p.Leu1208=) c.3634C= (p.Leu1212=) c.3607C= (p.Leu1203=) c.3553C= (p.Leu1185=) c.2953C= (p.Leu985=) c.3901C= (p.Leu1301=) c.3898C= (p.Leu1300=) c.3817C= (p.Leu1273=) c.3748C= (p.Leu1250=) c.3616C= (p.Leu1206=) c.3484C= (p.Leu1162=) | |
| 20 | g.32436349C>G | CA408563480 | ASXL1 | c.3637C>G (p.Leu1213Val) c.3454C>G (p.Leu1152Val) n.5990C>G c.1869+1768C>G (n.1869+1768C>G) c.3622C>G (p.Leu1208Val) c.3634C>G (p.Leu1212Val) c.3607C>G (p.Leu1203Val) c.3553C>G (p.Leu1185Val) c.2953C>G (p.Leu985Val) c.3901C>G (p.Leu1301Val) c.3898C>G (p.Leu1300Val) c.3817C>G (p.Leu1273Val) c.3748C>G (p.Leu1250Val) c.3616C>G (p.Leu1206Val) c.3484C>G (p.Leu1162Val) | dbSNP gnomAD v4 |
| 20 | g.32436349C>T | CA408563481 | ASXL1 | c.3637C>T (p.Leu1213Phe) c.3454C>T (p.Leu1152Phe) n.5990C>T c.1869+1768C>T (n.1869+1768C>T) c.3622C>T (p.Leu1208Phe) c.3634C>T (p.Leu1212Phe) c.3607C>T (p.Leu1203Phe) c.3553C>T (p.Leu1185Phe) c.2953C>T (p.Leu985Phe) c.3901C>T (p.Leu1301Phe) c.3898C>T (p.Leu1300Phe) c.3817C>T (p.Leu1273Phe) c.3748C>T (p.Leu1250Phe) c.3616C>T (p.Leu1206Phe) c.3484C>T (p.Leu1162Phe) | gnomAD v4 |
| 20 | g.32436350T>A | CA408563484 | ASXL1 | c.3638T>A (p.Leu1213His) c.3455T>A (p.Leu1152His) n.5991T>A c.1869+1769T>A (n.1869+1769T>A) c.3623T>A (p.Leu1208His) c.3635T>A (p.Leu1212His) c.3608T>A (p.Leu1203His) c.3554T>A (p.Leu1185His) c.2954T>A (p.Leu985His) c.3902T>A (p.Leu1301His) c.3899T>A (p.Leu1300His) c.3818T>A (p.Leu1273His) c.3749T>A (p.Leu1250His) c.3617T>A (p.Leu1206His) c.3485T>A (p.Leu1162His) | |
| 20 | g.32436350T>C | CA408563483 | ASXL1 | c.3638T>C (p.Leu1213Pro) c.3455T>C (p.Leu1152Pro) n.5991T>C c.1869+1769T>C (n.1869+1769T>C) c.3623T>C (p.Leu1208Pro) c.3635T>C (p.Leu1212Pro) c.3608T>C (p.Leu1203Pro) c.3554T>C (p.Leu1185Pro) c.2954T>C (p.Leu985Pro) c.3902T>C (p.Leu1301Pro) c.3899T>C (p.Leu1300Pro) c.3818T>C (p.Leu1273Pro) c.3749T>C (p.Leu1250Pro) c.3617T>C (p.Leu1206Pro) c.3485T>C (p.Leu1162Pro) | |
| 20 | g.32436350T>G | CA408563482 | ASXL1 | c.3638T>G (p.Leu1213Arg) c.3455T>G (p.Leu1152Arg) n.5991T>G c.1869+1769T>G (n.1869+1769T>G) c.3623T>G (p.Leu1208Arg) c.3635T>G (p.Leu1212Arg) c.3608T>G (p.Leu1203Arg) c.3554T>G (p.Leu1185Arg) c.2954T>G (p.Leu985Arg) c.3902T>G (p.Leu1301Arg) c.3899T>G (p.Leu1300Arg) c.3818T>G (p.Leu1273Arg) c.3749T>G (p.Leu1250Arg) c.3617T>G (p.Leu1206Arg) c.3485T>G (p.Leu1162Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.32436350T= | CA2360293661 | ASXL1 | c.3638T= (p.Leu1213=) c.3455T= (p.Leu1152=) n.5991T= c.1869+1769T= (n.1869+1769T=) c.3623T= (p.Leu1208=) c.3635T= (p.Leu1212=) c.3608T= (p.Leu1203=) c.3554T= (p.Leu1185=) c.2954T= (p.Leu985=) c.3902T= (p.Leu1301=) c.3899T= (p.Leu1300=) c.3818T= (p.Leu1273=) c.3749T= (p.Leu1250=) c.3617T= (p.Leu1206=) c.3485T= (p.Leu1162=) | |
| 20 | g.32436351C>A | CA510467373 | ASXL1 | c.3639C>A (p.Leu1213=) c.3456C>A (p.Leu1152=) n.5992C>A c.1869+1770C>A (n.1869+1770C>A) c.3624C>A (p.Leu1208=) c.3636C>A (p.Leu1212=) c.3609C>A (p.Leu1203=) c.3555C>A (p.Leu1185=) c.2955C>A (p.Leu985=) c.3903C>A (p.Leu1301=) c.3900C>A (p.Leu1300=) c.3819C>A (p.Leu1273=) c.3750C>A (p.Leu1250=) c.3618C>A (p.Leu1206=) c.3486C>A (p.Leu1162=) | dbSNP |
| 20 | g.32436351C= | CA2360293662 | ASXL1 | c.3639C= (p.Leu1213=) c.3456C= (p.Leu1152=) n.5992C= c.1869+1770C= (n.1869+1770C=) c.3624C= (p.Leu1208=) c.3636C= (p.Leu1212=) c.3609C= (p.Leu1203=) c.3555C= (p.Leu1185=) c.2955C= (p.Leu985=) c.3903C= (p.Leu1301=) c.3900C= (p.Leu1300=) c.3819C= (p.Leu1273=) c.3750C= (p.Leu1250=) c.3618C= (p.Leu1206=) c.3486C= (p.Leu1162=) | |
| 20 | g.32436351C>G | CA510467374 | ASXL1 | c.3639C>G (p.Leu1213=) c.3456C>G (p.Leu1152=) n.5992C>G c.1869+1770C>G (n.1869+1770C>G) c.3624C>G (p.Leu1208=) c.3636C>G (p.Leu1212=) c.3609C>G (p.Leu1203=) c.3555C>G (p.Leu1185=) c.2955C>G (p.Leu985=) c.3903C>G (p.Leu1301=) c.3900C>G (p.Leu1300=) c.3819C>G (p.Leu1273=) c.3750C>G (p.Leu1250=) c.3618C>G (p.Leu1206=) c.3486C>G (p.Leu1162=) | |
| 20 | g.32436351C>T | CA510467375 | ASXL1 | c.3639C>T (p.Leu1213=) c.3456C>T (p.Leu1152=) n.5992C>T c.1869+1770C>T (n.1869+1770C>T) c.3624C>T (p.Leu1208=) c.3636C>T (p.Leu1212=) c.3609C>T (p.Leu1203=) c.3555C>T (p.Leu1185=) c.2955C>T (p.Leu985=) c.3903C>T (p.Leu1301=) c.3900C>T (p.Leu1300=) c.3819C>T (p.Leu1273=) c.3750C>T (p.Leu1250=) c.3618C>T (p.Leu1206=) c.3486C>T (p.Leu1162=) | dbSNP |
| 20 | g.32436352C>A | CA408563485 | ASXL1 | c.3640C>A (p.His1214Asn) c.3457C>A (p.His1153Asn) n.5993C>A c.1869+1771C>A (n.1869+1771C>A) c.3625C>A (p.His1209Asn) c.3637C>A (p.His1213Asn) c.3610C>A (p.His1204Asn) c.3556C>A (p.His1186Asn) c.2956C>A (p.His986Asn) c.3904C>A (p.His1302Asn) c.3901C>A (p.His1301Asn) c.3820C>A (p.His1274Asn) c.3751C>A (p.His1251Asn) c.3619C>A (p.His1207Asn) c.3487C>A (p.His1163Asn) | |
| 20 | g.32436352C>G | CA408563486 | ASXL1 | c.3640C>G (p.His1214Asp) c.3457C>G (p.His1153Asp) n.5993C>G c.1869+1771C>G (n.1869+1771C>G) c.3625C>G (p.His1209Asp) c.3637C>G (p.His1213Asp) c.3610C>G (p.His1204Asp) c.3556C>G (p.His1186Asp) c.2956C>G (p.His986Asp) c.3904C>G (p.His1302Asp) c.3901C>G (p.His1301Asp) c.3820C>G (p.His1274Asp) c.3751C>G (p.His1251Asp) c.3619C>G (p.His1207Asp) c.3487C>G (p.His1163Asp) | |
| 20 | g.32436352C>T | CA408563487 | ASXL1 | c.3640C>T (p.His1214Tyr) c.3457C>T (p.His1153Tyr) n.5993C>T c.1869+1771C>T (n.1869+1771C>T) c.3625C>T (p.His1209Tyr) c.3637C>T (p.His1213Tyr) c.3610C>T (p.His1204Tyr) c.3556C>T (p.His1186Tyr) c.2956C>T (p.His986Tyr) c.3904C>T (p.His1302Tyr) c.3901C>T (p.His1301Tyr) c.3820C>T (p.His1274Tyr) c.3751C>T (p.His1251Tyr) c.3619C>T (p.His1207Tyr) c.3487C>T (p.His1163Tyr) | |
| 20 | g.32436353A>C | CA408563488 | ASXL1 | c.3641A>C (p.His1214Pro) c.3458A>C (p.His1153Pro) n.5994A>C c.1869+1772A>C (n.1869+1772A>C) c.3626A>C (p.His1209Pro) c.3638A>C (p.His1213Pro) c.3611A>C (p.His1204Pro) c.3557A>C (p.His1186Pro) c.2957A>C (p.His986Pro) c.3905A>C (p.His1302Pro) c.3902A>C (p.His1301Pro) c.3821A>C (p.His1274Pro) c.3752A>C (p.His1251Pro) c.3620A>C (p.His1207Pro) c.3488A>C (p.His1163Pro) | |
| 20 | g.32436353A>G | CA408563489 | ASXL1 | c.3641A>G (p.His1214Arg) c.3458A>G (p.His1153Arg) n.5994A>G c.1869+1772A>G (n.1869+1772A>G) c.3626A>G (p.His1209Arg) c.3638A>G (p.His1213Arg) c.3611A>G (p.His1204Arg) c.3557A>G (p.His1186Arg) c.2957A>G (p.His986Arg) c.3905A>G (p.His1302Arg) c.3902A>G (p.His1301Arg) c.3821A>G (p.His1274Arg) c.3752A>G (p.His1251Arg) c.3620A>G (p.His1207Arg) c.3488A>G (p.His1163Arg) | |
| 20 | g.32436353A>T | CA408563490 | ASXL1 | c.3641A>T (p.His1214Leu) c.3458A>T (p.His1153Leu) n.5994A>T c.1869+1772A>T (n.1869+1772A>T) c.3626A>T (p.His1209Leu) c.3638A>T (p.His1213Leu) c.3611A>T (p.His1204Leu) c.3557A>T (p.His1186Leu) c.2957A>T (p.His986Leu) c.3905A>T (p.His1302Leu) c.3902A>T (p.His1301Leu) c.3821A>T (p.His1274Leu) c.3752A>T (p.His1251Leu) c.3620A>T (p.His1207Leu) c.3488A>T (p.His1163Leu) | |
| 20 | g.32436354T>A | CA408563492 | ASXL1 | c.3642T>A (p.His1214Gln) c.3459T>A (p.His1153Gln) n.5995T>A c.1869+1773T>A (n.1869+1773T>A) c.3627T>A (p.His1209Gln) c.3639T>A (p.His1213Gln) c.3612T>A (p.His1204Gln) c.3558T>A (p.His1186Gln) c.2958T>A (p.His986Gln) c.3906T>A (p.His1302Gln) c.3903T>A (p.His1301Gln) c.3822T>A (p.His1274Gln) c.3753T>A (p.His1251Gln) c.3621T>A (p.His1207Gln) c.3489T>A (p.His1163Gln) | dbSNP |
| 20 | g.32436354T>C | CA510467376 | ASXL1 | c.3642T>C (p.His1214=) c.3459T>C (p.His1153=) n.5995T>C c.1869+1773T>C (n.1869+1773T>C) c.3627T>C (p.His1209=) c.3639T>C (p.His1213=) c.3612T>C (p.His1204=) c.3558T>C (p.His1186=) c.2958T>C (p.His986=) c.3906T>C (p.His1302=) c.3903T>C (p.His1301=) c.3822T>C (p.His1274=) c.3753T>C (p.His1251=) c.3621T>C (p.His1207=) c.3489T>C (p.His1163=) | |
| 20 | g.32436354T>G | CA408563491 | ASXL1 | c.3642T>G (p.His1214Gln) c.3459T>G (p.His1153Gln) n.5995T>G c.1869+1773T>G (n.1869+1773T>G) c.3627T>G (p.His1209Gln) c.3639T>G (p.His1213Gln) c.3612T>G (p.His1204Gln) c.3558T>G (p.His1186Gln) c.2958T>G (p.His986Gln) c.3906T>G (p.His1302Gln) c.3903T>G (p.His1301Gln) c.3822T>G (p.His1274Gln) c.3753T>G (p.His1251Gln) c.3621T>G (p.His1207Gln) c.3489T>G (p.His1163Gln) | |
| 20 | g.32436354T= | CA2360293663 | ASXL1 | c.3642T= (p.His1214=) c.3459T= (p.His1153=) n.5995T= c.1869+1773T= (n.1869+1773T=) c.3627T= (p.His1209=) c.3639T= (p.His1213=) c.3612T= (p.His1204=) c.3558T= (p.His1186=) c.2958T= (p.His986=) c.3906T= (p.His1302=) c.3903T= (p.His1301=) c.3822T= (p.His1274=) c.3753T= (p.His1251=) c.3621T= (p.His1207=) c.3489T= (p.His1163=) | |
| 20 | g.32436355C>A | CA408563493 | ASXL1 | c.3643C>A (p.Pro1215Thr) c.3460C>A (p.Pro1154Thr) n.5996C>A c.1869+1774C>A (n.1869+1774C>A) c.3628C>A (p.Pro1210Thr) c.3640C>A (p.Pro1214Thr) c.3613C>A (p.Pro1205Thr) c.3559C>A (p.Pro1187Thr) c.2959C>A (p.Pro987Thr) c.3907C>A (p.Pro1303Thr) c.3904C>A (p.Pro1302Thr) c.3823C>A (p.Pro1275Thr) c.3754C>A (p.Pro1252Thr) c.3622C>A (p.Pro1208Thr) c.3490C>A (p.Pro1164Thr) | |
| 20 | g.32436355C>G | CA408563494 | ASXL1 | c.3643C>G (p.Pro1215Ala) c.3460C>G (p.Pro1154Ala) n.5996C>G c.1869+1774C>G (n.1869+1774C>G) c.3628C>G (p.Pro1210Ala) c.3640C>G (p.Pro1214Ala) c.3613C>G (p.Pro1205Ala) c.3559C>G (p.Pro1187Ala) c.2959C>G (p.Pro987Ala) c.3907C>G (p.Pro1303Ala) c.3904C>G (p.Pro1302Ala) c.3823C>G (p.Pro1275Ala) c.3754C>G (p.Pro1252Ala) c.3622C>G (p.Pro1208Ala) c.3490C>G (p.Pro1164Ala) | dbSNP |
| 20 | g.32436355C>T | CA408563495 | ASXL1 | c.3643C>T (p.Pro1215Ser) c.3460C>T (p.Pro1154Ser) n.5996C>T c.1869+1774C>T (n.1869+1774C>T) c.3628C>T (p.Pro1210Ser) c.3640C>T (p.Pro1214Ser) c.3613C>T (p.Pro1205Ser) c.3559C>T (p.Pro1187Ser) c.2959C>T (p.Pro987Ser) c.3907C>T (p.Pro1303Ser) c.3904C>T (p.Pro1302Ser) c.3823C>T (p.Pro1275Ser) c.3754C>T (p.Pro1252Ser) c.3622C>T (p.Pro1208Ser) c.3490C>T (p.Pro1164Ser) | dbSNP gnomAD v4 |
| 20 | g.32436356C>A | CA408563496 | ASXL1 | c.3644C>A (p.Pro1215Gln) c.3461C>A (p.Pro1154Gln) n.5997C>A c.1869+1775C>A (n.1869+1775C>A) c.3629C>A (p.Pro1210Gln) c.3641C>A (p.Pro1214Gln) c.3614C>A (p.Pro1205Gln) c.3560C>A (p.Pro1187Gln) c.2960C>A (p.Pro987Gln) c.3908C>A (p.Pro1303Gln) c.3905C>A (p.Pro1302Gln) c.3824C>A (p.Pro1275Gln) c.3755C>A (p.Pro1252Gln) c.3623C>A (p.Pro1208Gln) c.3491C>A (p.Pro1164Gln) | |
| 20 | g.32436356C>G | CA408563497 | ASXL1 | c.3644C>G (p.Pro1215Arg) c.3461C>G (p.Pro1154Arg) n.5997C>G c.1869+1775C>G (n.1869+1775C>G) c.3629C>G (p.Pro1210Arg) c.3641C>G (p.Pro1214Arg) c.3614C>G (p.Pro1205Arg) c.3560C>G (p.Pro1187Arg) c.2960C>G (p.Pro987Arg) c.3908C>G (p.Pro1303Arg) c.3905C>G (p.Pro1302Arg) c.3824C>G (p.Pro1275Arg) c.3755C>G (p.Pro1252Arg) c.3623C>G (p.Pro1208Arg) c.3491C>G (p.Pro1164Arg) | |
| 20 | g.32436356C>T | CA408563498 | ASXL1 | c.3644C>T (p.Pro1215Leu) c.3461C>T (p.Pro1154Leu) n.5997C>T c.1869+1775C>T (n.1869+1775C>T) c.3629C>T (p.Pro1210Leu) c.3641C>T (p.Pro1214Leu) c.3614C>T (p.Pro1205Leu) c.3560C>T (p.Pro1187Leu) c.2960C>T (p.Pro987Leu) c.3908C>T (p.Pro1303Leu) c.3905C>T (p.Pro1302Leu) c.3824C>T (p.Pro1275Leu) c.3755C>T (p.Pro1252Leu) c.3623C>T (p.Pro1208Leu) c.3491C>T (p.Pro1164Leu) | |
| 20 | g.32436357A>C | CA510467377 | ASXL1 | c.3645A>C (p.Pro1215=) c.3462A>C (p.Pro1154=) n.5998A>C c.1869+1776A>C (n.1869+1776A>C) c.3630A>C (p.Pro1210=) c.3642A>C (p.Pro1214=) c.3615A>C (p.Pro1205=) c.3561A>C (p.Pro1187=) c.2961A>C (p.Pro987=) c.3909A>C (p.Pro1303=) c.3906A>C (p.Pro1302=) c.3825A>C (p.Pro1275=) c.3756A>C (p.Pro1252=) c.3624A>C (p.Pro1208=) c.3492A>C (p.Pro1164=) | |
| 20 | g.32436357A>G | CA510467378 | ASXL1 | c.3645A>G (p.Pro1215=) c.3462A>G (p.Pro1154=) n.5998A>G c.1869+1776A>G (n.1869+1776A>G) c.3630A>G (p.Pro1210=) c.3642A>G (p.Pro1214=) c.3615A>G (p.Pro1205=) c.3561A>G (p.Pro1187=) c.2961A>G (p.Pro987=) c.3909A>G (p.Pro1303=) c.3906A>G (p.Pro1302=) c.3825A>G (p.Pro1275=) c.3756A>G (p.Pro1252=) c.3624A>G (p.Pro1208=) c.3492A>G (p.Pro1164=) | gnomAD v4 |
| 20 | g.32436357A>T | CA510467379 | ASXL1 | c.3645A>T (p.Pro1215=) c.3462A>T (p.Pro1154=) n.5998A>T c.1869+1776A>T (n.1869+1776A>T) c.3630A>T (p.Pro1210=) c.3642A>T (p.Pro1214=) c.3615A>T (p.Pro1205=) c.3561A>T (p.Pro1187=) c.2961A>T (p.Pro987=) c.3909A>T (p.Pro1303=) c.3906A>T (p.Pro1302=) c.3825A>T (p.Pro1275=) c.3756A>T (p.Pro1252=) c.3624A>T (p.Pro1208=) c.3492A>T (p.Pro1164=) | |
| 20 | g.32436358G>A | CA408563499 | ASXL1 | c.3646G>A (p.Val1216Met) c.3463G>A (p.Val1155Met) n.5999G>A c.1869+1777G>A (n.1869+1777G>A) c.3631G>A (p.Val1211Met) c.3643G>A (p.Val1215Met) c.3616G>A (p.Val1206Met) c.3562G>A (p.Val1188Met) c.2962G>A (p.Val988Met) c.3910G>A (p.Val1304Met) c.3907G>A (p.Val1303Met) c.3826G>A (p.Val1276Met) c.3757G>A (p.Val1253Met) c.3625G>A (p.Val1209Met) c.3493G>A (p.Val1165Met) | gnomAD v4 |
| 20 | g.32436358G>C | CA9808868 | ASXL1 | c.3646G>C (p.Val1216Leu) c.3463G>C (p.Val1155Leu) n.5999G>C c.1869+1777G>C (n.1869+1777G>C) c.3631G>C (p.Val1211Leu) c.3643G>C (p.Val1215Leu) c.3616G>C (p.Val1206Leu) c.3562G>C (p.Val1188Leu) c.2962G>C (p.Val988Leu) c.3910G>C (p.Val1304Leu) c.3907G>C (p.Val1303Leu) c.3826G>C (p.Val1276Leu) c.3757G>C (p.Val1253Leu) c.3625G>C (p.Val1209Leu) c.3493G>C (p.Val1165Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.32436358G= | CA2360293664 | ASXL1 | c.3646G= (p.Val1216=) c.3463G= (p.Val1155=) n.5999G= c.1869+1777G= (n.1869+1777G=) c.3631G= (p.Val1211=) c.3643G= (p.Val1215=) c.3616G= (p.Val1206=) c.3562G= (p.Val1188=) c.2962G= (p.Val988=) c.3910G= (p.Val1304=) c.3907G= (p.Val1303=) c.3826G= (p.Val1276=) c.3757G= (p.Val1253=) c.3625G= (p.Val1209=) c.3493G= (p.Val1165=) | |
| 20 | g.32436358G>T | CA408563500 | ASXL1 | c.3646G>T (p.Val1216Leu) c.3463G>T (p.Val1155Leu) n.5999G>T c.1869+1777G>T (n.1869+1777G>T) c.3631G>T (p.Val1211Leu) c.3643G>T (p.Val1215Leu) c.3616G>T (p.Val1206Leu) c.3562G>T (p.Val1188Leu) c.2962G>T (p.Val988Leu) c.3910G>T (p.Val1304Leu) c.3907G>T (p.Val1303Leu) c.3826G>T (p.Val1276Leu) c.3757G>T (p.Val1253Leu) c.3625G>T (p.Val1209Leu) c.3493G>T (p.Val1165Leu) | |
| 20 | g.32436359T>A | CA408563501 | ASXL1 | c.3647T>A (p.Val1216Glu) c.3464T>A (p.Val1155Glu) n.6000T>A c.1869+1778T>A (n.1869+1778T>A) c.3632T>A (p.Val1211Glu) c.3644T>A (p.Val1215Glu) c.3617T>A (p.Val1206Glu) c.3563T>A (p.Val1188Glu) c.2963T>A (p.Val988Glu) c.3911T>A (p.Val1304Glu) c.3908T>A (p.Val1303Glu) c.3827T>A (p.Val1276Glu) c.3758T>A (p.Val1253Glu) c.3626T>A (p.Val1209Glu) c.3494T>A (p.Val1165Glu) | |
| 20 | g.32436359T>C | CA408563502 | ASXL1 | c.3647T>C (p.Val1216Ala) c.3464T>C (p.Val1155Ala) n.6000T>C c.1869+1778T>C (n.1869+1778T>C) c.3632T>C (p.Val1211Ala) c.3644T>C (p.Val1215Ala) c.3617T>C (p.Val1206Ala) c.3563T>C (p.Val1188Ala) c.2963T>C (p.Val988Ala) c.3911T>C (p.Val1304Ala) c.3908T>C (p.Val1303Ala) c.3827T>C (p.Val1276Ala) c.3758T>C (p.Val1253Ala) c.3626T>C (p.Val1209Ala) c.3494T>C (p.Val1165Ala) |