Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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) | |
20 | g.32436359T>G | CA408563503 | ASXL1 | c.3647T>G (p.Val1216Gly) c.3464T>G (p.Val1155Gly) n.6000T>G c.1869+1778T>G (n.1869+1778T>G) c.3632T>G (p.Val1211Gly) c.3644T>G (p.Val1215Gly) c.3617T>G (p.Val1206Gly) c.3563T>G (p.Val1188Gly) c.2963T>G (p.Val988Gly) c.3911T>G (p.Val1304Gly) c.3908T>G (p.Val1303Gly) c.3827T>G (p.Val1276Gly) c.3758T>G (p.Val1253Gly) c.3626T>G (p.Val1209Gly) c.3494T>G (p.Val1165Gly) | |
20 | g.32436360G>A | CA510467382 | ASXL1 | c.3648G>A (p.Val1216=) c.3465G>A (p.Val1155=) n.6001G>A c.1869+1779G>A (n.1869+1779G>A) c.3633G>A (p.Val1211=) c.3645G>A (p.Val1215=) c.3618G>A (p.Val1206=) c.3564G>A (p.Val1188=) c.2964G>A (p.Val988=) c.3912G>A (p.Val1304=) c.3909G>A (p.Val1303=) c.3828G>A (p.Val1276=) c.3759G>A (p.Val1253=) c.3627G>A (p.Val1209=) c.3495G>A (p.Val1165=) | |
20 | g.32436360G>C | CA510467384 | ASXL1 | c.3648G>C (p.Val1216=) c.3465G>C (p.Val1155=) n.6001G>C c.1869+1779G>C (n.1869+1779G>C) c.3633G>C (p.Val1211=) c.3645G>C (p.Val1215=) c.3618G>C (p.Val1206=) c.3564G>C (p.Val1188=) c.2964G>C (p.Val988=) c.3912G>C (p.Val1304=) c.3909G>C (p.Val1303=) c.3828G>C (p.Val1276=) c.3759G>C (p.Val1253=) c.3627G>C (p.Val1209=) c.3495G>C (p.Val1165=) | dbSNP |
20 | g.32436360G>T | CA510467385 | ASXL1 | c.3648G>T (p.Val1216=) c.3465G>T (p.Val1155=) n.6001G>T c.1869+1779G>T (n.1869+1779G>T) c.3633G>T (p.Val1211=) c.3645G>T (p.Val1215=) c.3618G>T (p.Val1206=) c.3564G>T (p.Val1188=) c.2964G>T (p.Val988=) c.3912G>T (p.Val1304=) c.3909G>T (p.Val1303=) c.3828G>T (p.Val1276=) c.3759G>T (p.Val1253=) c.3627G>T (p.Val1209=) c.3495G>T (p.Val1165=) | |
20 | g.32436361A>C | CA408563504 | ASXL1 | c.3649A>C (p.Thr1217Pro) c.3466A>C (p.Thr1156Pro) n.6002A>C c.1869+1780A>C (n.1869+1780A>C) c.3634A>C (p.Thr1212Pro) c.3646A>C (p.Thr1216Pro) c.3619A>C (p.Thr1207Pro) c.3565A>C (p.Thr1189Pro) c.2965A>C (p.Thr989Pro) c.3913A>C (p.Thr1305Pro) c.3910A>C (p.Thr1304Pro) c.3829A>C (p.Thr1277Pro) c.3760A>C (p.Thr1254Pro) c.3628A>C (p.Thr1210Pro) c.3496A>C (p.Thr1166Pro) | |
20 | g.32436361A>G | CA408563505 | ASXL1 | c.3649A>G (p.Thr1217Ala) c.3466A>G (p.Thr1156Ala) n.6002A>G c.1869+1780A>G (n.1869+1780A>G) c.3634A>G (p.Thr1212Ala) c.3646A>G (p.Thr1216Ala) c.3619A>G (p.Thr1207Ala) c.3565A>G (p.Thr1189Ala) c.2965A>G (p.Thr989Ala) c.3913A>G (p.Thr1305Ala) c.3910A>G (p.Thr1304Ala) c.3829A>G (p.Thr1277Ala) c.3760A>G (p.Thr1254Ala) c.3628A>G (p.Thr1210Ala) c.3496A>G (p.Thr1166Ala) | gnomAD v4 |
20 | g.32436361A>T | CA408563506 | ASXL1 | c.3649A>T (p.Thr1217Ser) c.3466A>T (p.Thr1156Ser) n.6002A>T c.1869+1780A>T (n.1869+1780A>T) c.3634A>T (p.Thr1212Ser) c.3646A>T (p.Thr1216Ser) c.3619A>T (p.Thr1207Ser) c.3565A>T (p.Thr1189Ser) c.2965A>T (p.Thr989Ser) c.3913A>T (p.Thr1305Ser) c.3910A>T (p.Thr1304Ser) c.3829A>T (p.Thr1277Ser) c.3760A>T (p.Thr1254Ser) c.3628A>T (p.Thr1210Ser) c.3496A>T (p.Thr1166Ser) | |
20 | g.32436362C>A | CA408563507 | ASXL1 | c.3650C>A (p.Thr1217Lys) c.3467C>A (p.Thr1156Lys) n.6003C>A c.1869+1781C>A (n.1869+1781C>A) c.3635C>A (p.Thr1212Lys) c.3647C>A (p.Thr1216Lys) c.3620C>A (p.Thr1207Lys) c.3566C>A (p.Thr1189Lys) c.2966C>A (p.Thr989Lys) c.3914C>A (p.Thr1305Lys) c.3911C>A (p.Thr1304Lys) c.3830C>A (p.Thr1277Lys) c.3761C>A (p.Thr1254Lys) c.3629C>A (p.Thr1210Lys) c.3497C>A (p.Thr1166Lys) | |
20 | g.32436362C= | CA2360293665 | ASXL1 | c.3650C= (p.Thr1217=) c.3467C= (p.Thr1156=) n.6003C= c.1869+1781C= (n.1869+1781C=) c.3635C= (p.Thr1212=) c.3647C= (p.Thr1216=) c.3620C= (p.Thr1207=) c.3566C= (p.Thr1189=) c.2966C= (p.Thr989=) c.3914C= (p.Thr1305=) c.3911C= (p.Thr1304=) c.3830C= (p.Thr1277=) c.3761C= (p.Thr1254=) c.3629C= (p.Thr1210=) c.3497C= (p.Thr1166=) | |
20 | g.32436362C>G | CA408563508 | ASXL1 | c.3650C>G (p.Thr1217Arg) c.3467C>G (p.Thr1156Arg) n.6003C>G c.1869+1781C>G (n.1869+1781C>G) c.3635C>G (p.Thr1212Arg) c.3647C>G (p.Thr1216Arg) c.3620C>G (p.Thr1207Arg) c.3566C>G (p.Thr1189Arg) c.2966C>G (p.Thr989Arg) c.3914C>G (p.Thr1305Arg) c.3911C>G (p.Thr1304Arg) c.3830C>G (p.Thr1277Arg) c.3761C>G (p.Thr1254Arg) c.3629C>G (p.Thr1210Arg) c.3497C>G (p.Thr1166Arg) | |
20 | g.32436362C>T | CA408563509 | ASXL1 | c.3650C>T (p.Thr1217Ile) c.3467C>T (p.Thr1156Ile) n.6003C>T c.1869+1781C>T (n.1869+1781C>T) c.3635C>T (p.Thr1212Ile) c.3647C>T (p.Thr1216Ile) c.3620C>T (p.Thr1207Ile) c.3566C>T (p.Thr1189Ile) c.2966C>T (p.Thr989Ile) c.3914C>T (p.Thr1305Ile) c.3911C>T (p.Thr1304Ile) c.3830C>T (p.Thr1277Ile) c.3761C>T (p.Thr1254Ile) c.3629C>T (p.Thr1210Ile) c.3497C>T (p.Thr1166Ile) | |
20 | g.32436363A>C | CA510467391 | ASXL1 | c.3651A>C (p.Thr1217=) c.3468A>C (p.Thr1156=) n.6004A>C c.1869+1782A>C (n.1869+1782A>C) c.3636A>C (p.Thr1212=) c.3648A>C (p.Thr1216=) c.3621A>C (p.Thr1207=) c.3567A>C (p.Thr1189=) c.2967A>C (p.Thr989=) c.3915A>C (p.Thr1305=) c.3912A>C (p.Thr1304=) c.3831A>C (p.Thr1277=) c.3762A>C (p.Thr1254=) c.3630A>C (p.Thr1210=) c.3498A>C (p.Thr1166=) | |
20 | g.32436363A>G | CA510467389 | ASXL1 | c.3651A>G (p.Thr1217=) c.3468A>G (p.Thr1156=) n.6004A>G c.1869+1782A>G (n.1869+1782A>G) c.3636A>G (p.Thr1212=) c.3648A>G (p.Thr1216=) c.3621A>G (p.Thr1207=) c.3567A>G (p.Thr1189=) c.2967A>G (p.Thr989=) c.3915A>G (p.Thr1305=) c.3912A>G (p.Thr1304=) c.3831A>G (p.Thr1277=) c.3762A>G (p.Thr1254=) c.3630A>G (p.Thr1210=) c.3498A>G (p.Thr1166=) | |
20 | g.32436363A>T | CA510467387 | ASXL1 | c.3651A>T (p.Thr1217=) c.3468A>T (p.Thr1156=) n.6004A>T c.1869+1782A>T (n.1869+1782A>T) c.3636A>T (p.Thr1212=) c.3648A>T (p.Thr1216=) c.3621A>T (p.Thr1207=) c.3567A>T (p.Thr1189=) c.2967A>T (p.Thr989=) c.3915A>T (p.Thr1305=) c.3912A>T (p.Thr1304=) c.3831A>T (p.Thr1277=) c.3762A>T (p.Thr1254=) c.3630A>T (p.Thr1210=) c.3498A>T (p.Thr1166=) | |
20 | g.32436364_32436365dup | CA9808869 | ASXL1 | c.3652_3653dup (p.Asn1218LysfsTer?) c.3469_3470dup (p.Asn1157LysfsTer?) n.6005_6006dup c.1869+1783_1869+1784dup (n.1869+1783_1869+1784dup) c.3637_3638dup (p.Asn1213LysfsTer?) c.3649_3650dup (p.Asn1217LysfsTer?) c.3622_3623dup (p.Asn1208LysfsTer?) c.3568_3569dup (p.Asn1190LysfsTer?) c.2968_2969dup (p.Asn990LysfsTer?) c.3916_3917dup (p.Asn1306LysfsTer?) c.3913_3914dup (p.Asn1305LysfsTer?) c.3832_3833dup (p.Asn1278LysfsTer?) c.3763_3764dup (p.Asn1255LysfsTer?) c.3631_3632dup (p.Asn1211LysfsTer?) c.3499_3500dup (p.Asn1167LysfsTer?) | dbSNP ExAC gnomAD v2 |
20 | g.32436364_32436365del | CA2695229724 | ASXL1 | c.3652_3653del (p.Asn1218SerfsTer6) c.3469_3470del (p.Asn1157SerfsTer6) n.6005_6006del c.1869+1783_1869+1784del (n.1869+1783_1869+1784del) c.3637_3638del (p.Asn1213SerfsTer6) c.3649_3650del (p.Asn1217SerfsTer6) c.3622_3623del (p.Asn1208SerfsTer6) c.3568_3569del (p.Asn1190SerfsTer6) c.2968_2969del (p.Asn990SerfsTer6) c.3916_3917del (p.Asn1306SerfsTer6) c.3913_3914del (p.Asn1305SerfsTer6) c.3832_3833del (p.Asn1278SerfsTer6) c.3763_3764del (p.Asn1255SerfsTer6) c.3631_3632del (p.Asn1211SerfsTer6) c.3499_3500del (p.Asn1167SerfsTer6) | |
20 | g.32436364A>C | CA408563512 | ASXL1 | c.3652A>C (p.Asn1218His) c.3469A>C (p.Asn1157His) n.6005A>C c.1869+1783A>C (n.1869+1783A>C) c.3637A>C (p.Asn1213His) c.3649A>C (p.Asn1217His) c.3622A>C (p.Asn1208His) c.3568A>C (p.Asn1190His) c.2968A>C (p.Asn990His) c.3916A>C (p.Asn1306His) c.3913A>C (p.Asn1305His) c.3832A>C (p.Asn1278His) c.3763A>C (p.Asn1255His) c.3631A>C (p.Asn1211His) c.3499A>C (p.Asn1167His) | |
20 | g.32436364A>G | CA408563511 | ASXL1 | c.3652A>G (p.Asn1218Asp) c.3469A>G (p.Asn1157Asp) n.6005A>G c.1869+1783A>G (n.1869+1783A>G) c.3637A>G (p.Asn1213Asp) c.3649A>G (p.Asn1217Asp) c.3622A>G (p.Asn1208Asp) c.3568A>G (p.Asn1190Asp) c.2968A>G (p.Asn990Asp) c.3916A>G (p.Asn1306Asp) c.3913A>G (p.Asn1305Asp) c.3832A>G (p.Asn1278Asp) c.3763A>G (p.Asn1255Asp) c.3631A>G (p.Asn1211Asp) c.3499A>G (p.Asn1167Asp) | |
20 | g.32436364A>T | CA408563510 | ASXL1 | c.3652A>T (p.Asn1218Tyr) c.3469A>T (p.Asn1157Tyr) n.6005A>T c.1869+1783A>T (n.1869+1783A>T) c.3637A>T (p.Asn1213Tyr) c.3649A>T (p.Asn1217Tyr) c.3622A>T (p.Asn1208Tyr) c.3568A>T (p.Asn1190Tyr) c.2968A>T (p.Asn990Tyr) c.3916A>T (p.Asn1306Tyr) c.3913A>T (p.Asn1305Tyr) c.3832A>T (p.Asn1278Tyr) c.3763A>T (p.Asn1255Tyr) c.3631A>T (p.Asn1211Tyr) c.3499A>T (p.Asn1167Tyr) | |
20 | g.32436365A>C | CA408563513 | ASXL1 | c.3653A>C (p.Asn1218Thr) c.3470A>C (p.Asn1157Thr) n.6006A>C c.1869+1784A>C (n.1869+1784A>C) c.3638A>C (p.Asn1213Thr) c.3650A>C (p.Asn1217Thr) c.3623A>C (p.Asn1208Thr) c.3569A>C (p.Asn1190Thr) c.2969A>C (p.Asn990Thr) c.3917A>C (p.Asn1306Thr) c.3914A>C (p.Asn1305Thr) c.3833A>C (p.Asn1278Thr) c.3764A>C (p.Asn1255Thr) c.3632A>C (p.Asn1211Thr) c.3500A>C (p.Asn1167Thr) | |
20 | g.32436365A>G | CA408563515 | ASXL1 | c.3653A>G (p.Asn1218Ser) c.3470A>G (p.Asn1157Ser) n.6006A>G c.1869+1784A>G (n.1869+1784A>G) c.3638A>G (p.Asn1213Ser) c.3650A>G (p.Asn1217Ser) c.3623A>G (p.Asn1208Ser) c.3569A>G (p.Asn1190Ser) c.2969A>G (p.Asn990Ser) c.3917A>G (p.Asn1306Ser) c.3914A>G (p.Asn1305Ser) c.3833A>G (p.Asn1278Ser) c.3764A>G (p.Asn1255Ser) c.3632A>G (p.Asn1211Ser) c.3500A>G (p.Asn1167Ser) | |
20 | g.32436365A>T | CA408563514 | ASXL1 | c.3653A>T (p.Asn1218Ile) c.3470A>T (p.Asn1157Ile) n.6006A>T c.1869+1784A>T (n.1869+1784A>T) c.3638A>T (p.Asn1213Ile) c.3650A>T (p.Asn1217Ile) c.3623A>T (p.Asn1208Ile) c.3569A>T (p.Asn1190Ile) c.2969A>T (p.Asn990Ile) c.3917A>T (p.Asn1306Ile) c.3914A>T (p.Asn1305Ile) c.3833A>T (p.Asn1278Ile) c.3764A>T (p.Asn1255Ile) c.3632A>T (p.Asn1211Ile) c.3500A>T (p.Asn1167Ile) | |
20 | g.32436366T>A | CA408563516 | ASXL1 | c.3654T>A (p.Asn1218Lys) c.3471T>A (p.Asn1157Lys) n.6007T>A c.1869+1785T>A (n.1869+1785T>A) c.3639T>A (p.Asn1213Lys) c.3651T>A (p.Asn1217Lys) c.3624T>A (p.Asn1208Lys) c.3570T>A (p.Asn1190Lys) c.2970T>A (p.Asn990Lys) c.3918T>A (p.Asn1306Lys) c.3915T>A (p.Asn1305Lys) c.3834T>A (p.Asn1278Lys) c.3765T>A (p.Asn1255Lys) c.3633T>A (p.Asn1211Lys) c.3501T>A (p.Asn1167Lys) | |
20 | g.32436366T>C | CA510467393 | ASXL1 | c.3654T>C (p.Asn1218=) c.3471T>C (p.Asn1157=) n.6007T>C c.1869+1785T>C (n.1869+1785T>C) c.3639T>C (p.Asn1213=) c.3651T>C (p.Asn1217=) c.3624T>C (p.Asn1208=) c.3570T>C (p.Asn1190=) c.2970T>C (p.Asn990=) c.3918T>C (p.Asn1306=) c.3915T>C (p.Asn1305=) c.3834T>C (p.Asn1278=) c.3765T>C (p.Asn1255=) c.3633T>C (p.Asn1211=) c.3501T>C (p.Asn1167=) | |
20 | g.32436366T>G | CA408563517 | ASXL1 | c.3654T>G (p.Asn1218Lys) c.3471T>G (p.Asn1157Lys) n.6007T>G c.1869+1785T>G (n.1869+1785T>G) c.3639T>G (p.Asn1213Lys) c.3651T>G (p.Asn1217Lys) c.3624T>G (p.Asn1208Lys) c.3570T>G (p.Asn1190Lys) c.2970T>G (p.Asn990Lys) c.3918T>G (p.Asn1306Lys) c.3915T>G (p.Asn1305Lys) c.3834T>G (p.Asn1278Lys) c.3765T>G (p.Asn1255Lys) c.3633T>G (p.Asn1211Lys) c.3501T>G (p.Asn1167Lys) | |
20 | g.32436367C>A | CA408563518 | ASXL1 | c.3655C>A (p.Pro1219Thr) c.3472C>A (p.Pro1158Thr) n.6008C>A c.1869+1786C>A (n.1869+1786C>A) c.3640C>A (p.Pro1214Thr) c.3652C>A (p.Pro1218Thr) c.3625C>A (p.Pro1209Thr) c.3571C>A (p.Pro1191Thr) c.2971C>A (p.Pro991Thr) c.3919C>A (p.Pro1307Thr) c.3916C>A (p.Pro1306Thr) c.3835C>A (p.Pro1279Thr) c.3766C>A (p.Pro1256Thr) c.3634C>A (p.Pro1212Thr) c.3502C>A (p.Pro1168Thr) | |
20 | g.32436367C= | CA2360293666 | ASXL1 | c.3655C= (p.Pro1219=) c.3472C= (p.Pro1158=) n.6008C= c.1869+1786C= (n.1869+1786C=) c.3640C= (p.Pro1214=) c.3652C= (p.Pro1218=) c.3625C= (p.Pro1209=) c.3571C= (p.Pro1191=) c.2971C= (p.Pro991=) c.3919C= (p.Pro1307=) c.3916C= (p.Pro1306=) c.3835C= (p.Pro1279=) c.3766C= (p.Pro1256=) c.3634C= (p.Pro1212=) c.3502C= (p.Pro1168=) | |
20 | g.32436367C>G | CA408563519 | ASXL1 | c.3655C>G (p.Pro1219Ala) c.3472C>G (p.Pro1158Ala) n.6008C>G c.1869+1786C>G (n.1869+1786C>G) c.3640C>G (p.Pro1214Ala) c.3652C>G (p.Pro1218Ala) c.3625C>G (p.Pro1209Ala) c.3571C>G (p.Pro1191Ala) c.2971C>G (p.Pro991Ala) c.3919C>G (p.Pro1307Ala) c.3916C>G (p.Pro1306Ala) c.3835C>G (p.Pro1279Ala) c.3766C>G (p.Pro1256Ala) c.3634C>G (p.Pro1212Ala) c.3502C>G (p.Pro1168Ala) | |
20 | g.32436367C>T | CA9808870 | ASXL1 | c.3655C>T (p.Pro1219Ser) c.3472C>T (p.Pro1158Ser) n.6008C>T c.1869+1786C>T (n.1869+1786C>T) c.3640C>T (p.Pro1214Ser) c.3652C>T (p.Pro1218Ser) c.3625C>T (p.Pro1209Ser) c.3571C>T (p.Pro1191Ser) c.2971C>T (p.Pro991Ser) c.3919C>T (p.Pro1307Ser) c.3916C>T (p.Pro1306Ser) c.3835C>T (p.Pro1279Ser) c.3766C>T (p.Pro1256Ser) c.3634C>T (p.Pro1212Ser) c.3502C>T (p.Pro1168Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436368C>A | CA408563520 | ASXL1 | c.3656C>A (p.Pro1219His) c.3473C>A (p.Pro1158His) n.6009C>A c.1869+1787C>A (n.1869+1787C>A) c.3641C>A (p.Pro1214His) c.3653C>A (p.Pro1218His) c.3626C>A (p.Pro1209His) c.3572C>A (p.Pro1191His) c.2972C>A (p.Pro991His) c.3920C>A (p.Pro1307His) c.3917C>A (p.Pro1306His) c.3836C>A (p.Pro1279His) c.3767C>A (p.Pro1256His) c.3635C>A (p.Pro1212His) c.3503C>A (p.Pro1168His) | |
20 | g.32436368C>G | CA408563521 | ASXL1 | c.3656C>G (p.Pro1219Arg) c.3473C>G (p.Pro1158Arg) n.6009C>G c.1869+1787C>G (n.1869+1787C>G) c.3641C>G (p.Pro1214Arg) c.3653C>G (p.Pro1218Arg) c.3626C>G (p.Pro1209Arg) c.3572C>G (p.Pro1191Arg) c.2972C>G (p.Pro991Arg) c.3920C>G (p.Pro1307Arg) c.3917C>G (p.Pro1306Arg) c.3836C>G (p.Pro1279Arg) c.3767C>G (p.Pro1256Arg) c.3635C>G (p.Pro1212Arg) c.3503C>G (p.Pro1168Arg) | |
20 | g.32436368C>T | CA408563522 | ASXL1 | c.3656C>T (p.Pro1219Leu) c.3473C>T (p.Pro1158Leu) n.6009C>T c.1869+1787C>T (n.1869+1787C>T) c.3641C>T (p.Pro1214Leu) c.3653C>T (p.Pro1218Leu) c.3626C>T (p.Pro1209Leu) c.3572C>T (p.Pro1191Leu) c.2972C>T (p.Pro991Leu) c.3920C>T (p.Pro1307Leu) c.3917C>T (p.Pro1306Leu) c.3836C>T (p.Pro1279Leu) c.3767C>T (p.Pro1256Leu) c.3635C>T (p.Pro1212Leu) c.3503C>T (p.Pro1168Leu) | gnomAD v4 |
20 | g.32436369C>A | CA510467396 | ASXL1 | c.3657C>A (p.Pro1219=) c.3474C>A (p.Pro1158=) n.6010C>A c.1869+1788C>A (n.1869+1788C>A) c.3642C>A (p.Pro1214=) c.3654C>A (p.Pro1218=) c.3627C>A (p.Pro1209=) c.3573C>A (p.Pro1191=) c.2973C>A (p.Pro991=) c.3921C>A (p.Pro1307=) c.3918C>A (p.Pro1306=) c.3837C>A (p.Pro1279=) c.3768C>A (p.Pro1256=) c.3636C>A (p.Pro1212=) c.3504C>A (p.Pro1168=) | |
20 | g.32436369C= | CA2360293667 | ASXL1 | c.3657C= (p.Pro1219=) c.3474C= (p.Pro1158=) n.6010C= c.1869+1788C= (n.1869+1788C=) c.3642C= (p.Pro1214=) c.3654C= (p.Pro1218=) c.3627C= (p.Pro1209=) c.3573C= (p.Pro1191=) c.2973C= (p.Pro991=) c.3921C= (p.Pro1307=) c.3918C= (p.Pro1306=) c.3837C= (p.Pro1279=) c.3768C= (p.Pro1256=) c.3636C= (p.Pro1212=) c.3504C= (p.Pro1168=) | |
20 | g.32436369C>G | CA510467397 | ASXL1 | c.3657C>G (p.Pro1219=) c.3474C>G (p.Pro1158=) n.6010C>G c.1869+1788C>G (n.1869+1788C>G) c.3642C>G (p.Pro1214=) c.3654C>G (p.Pro1218=) c.3627C>G (p.Pro1209=) c.3573C>G (p.Pro1191=) c.2973C>G (p.Pro991=) c.3921C>G (p.Pro1307=) c.3918C>G (p.Pro1306=) c.3837C>G (p.Pro1279=) c.3768C>G (p.Pro1256=) c.3636C>G (p.Pro1212=) c.3504C>G (p.Pro1168=) | |
20 | g.32436369C>T | CA510467399 | ASXL1 | c.3657C>T (p.Pro1219=) c.3474C>T (p.Pro1158=) n.6010C>T c.1869+1788C>T (n.1869+1788C>T) c.3642C>T (p.Pro1214=) c.3654C>T (p.Pro1218=) c.3627C>T (p.Pro1209=) c.3573C>T (p.Pro1191=) c.2973C>T (p.Pro991=) c.3921C>T (p.Pro1307=) c.3918C>T (p.Pro1306=) c.3837C>T (p.Pro1279=) c.3768C>T (p.Pro1256=) c.3636C>T (p.Pro1212=) c.3504C>T (p.Pro1168=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436370A= | CA2360293668 | ASXL1 | c.3658A= (p.Ile1220=) c.3475A= (p.Ile1159=) n.6011A= c.1869+1789A= (n.1869+1789A=) c.3643A= (p.Ile1215=) c.3655A= (p.Ile1219=) c.3628A= (p.Ile1210=) c.3574A= (p.Ile1192=) c.2974A= (p.Ile992=) c.3922A= (p.Ile1308=) c.3919A= (p.Ile1307=) c.3838A= (p.Ile1280=) c.3769A= (p.Ile1257=) c.3637A= (p.Ile1213=) c.3505A= (p.Ile1169=) | |
20 | g.32436370A>C | CA408563523 | ASXL1 | c.3658A>C (p.Ile1220Leu) c.3475A>C (p.Ile1159Leu) n.6011A>C c.1869+1789A>C (n.1869+1789A>C) c.3643A>C (p.Ile1215Leu) c.3655A>C (p.Ile1219Leu) c.3628A>C (p.Ile1210Leu) c.3574A>C (p.Ile1192Leu) c.2974A>C (p.Ile992Leu) c.3922A>C (p.Ile1308Leu) c.3919A>C (p.Ile1307Leu) c.3838A>C (p.Ile1280Leu) c.3769A>C (p.Ile1257Leu) c.3637A>C (p.Ile1213Leu) c.3505A>C (p.Ile1169Leu) | |
20 | g.32436370A>G | CA408563524 | ASXL1 | c.3658A>G (p.Ile1220Val) c.3475A>G (p.Ile1159Val) n.6011A>G c.1869+1789A>G (n.1869+1789A>G) c.3643A>G (p.Ile1215Val) c.3655A>G (p.Ile1219Val) c.3628A>G (p.Ile1210Val) c.3574A>G (p.Ile1192Val) c.2974A>G (p.Ile992Val) c.3922A>G (p.Ile1308Val) c.3919A>G (p.Ile1307Val) c.3838A>G (p.Ile1280Val) c.3769A>G (p.Ile1257Val) c.3637A>G (p.Ile1213Val) c.3505A>G (p.Ile1169Val) | |
20 | g.32436370A>T | CA9808871 | ASXL1 | c.3658A>T (p.Ile1220Phe) c.3475A>T (p.Ile1159Phe) n.6011A>T c.1869+1789A>T (n.1869+1789A>T) c.3643A>T (p.Ile1215Phe) c.3655A>T (p.Ile1219Phe) c.3628A>T (p.Ile1210Phe) c.3574A>T (p.Ile1192Phe) c.2974A>T (p.Ile992Phe) c.3922A>T (p.Ile1308Phe) c.3919A>T (p.Ile1307Phe) c.3838A>T (p.Ile1280Phe) c.3769A>T (p.Ile1257Phe) c.3637A>T (p.Ile1213Phe) c.3505A>T (p.Ile1169Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.32436371T>A | CA408563525 | ASXL1 | c.3659T>A (p.Ile1220Asn) c.3476T>A (p.Ile1159Asn) n.6012T>A c.1869+1790T>A (n.1869+1790T>A) c.3644T>A (p.Ile1215Asn) c.3656T>A (p.Ile1219Asn) c.3629T>A (p.Ile1210Asn) c.3575T>A (p.Ile1192Asn) c.2975T>A (p.Ile992Asn) c.3923T>A (p.Ile1308Asn) c.3920T>A (p.Ile1307Asn) c.3839T>A (p.Ile1280Asn) c.3770T>A (p.Ile1257Asn) c.3638T>A (p.Ile1213Asn) c.3506T>A (p.Ile1169Asn) | |
20 | g.32436371T>C | CA408563526 | ASXL1 | c.3659T>C (p.Ile1220Thr) c.3476T>C (p.Ile1159Thr) n.6012T>C c.1869+1790T>C (n.1869+1790T>C) c.3644T>C (p.Ile1215Thr) c.3656T>C (p.Ile1219Thr) c.3629T>C (p.Ile1210Thr) c.3575T>C (p.Ile1192Thr) c.2975T>C (p.Ile992Thr) c.3923T>C (p.Ile1308Thr) c.3920T>C (p.Ile1307Thr) c.3839T>C (p.Ile1280Thr) c.3770T>C (p.Ile1257Thr) c.3638T>C (p.Ile1213Thr) c.3506T>C (p.Ile1169Thr) | |
20 | g.32436371T>G | CA408563527 | ASXL1 | c.3659T>G (p.Ile1220Ser) c.3476T>G (p.Ile1159Ser) n.6012T>G c.1869+1790T>G (n.1869+1790T>G) c.3644T>G (p.Ile1215Ser) c.3656T>G (p.Ile1219Ser) c.3629T>G (p.Ile1210Ser) c.3575T>G (p.Ile1192Ser) c.2975T>G (p.Ile992Ser) c.3923T>G (p.Ile1308Ser) c.3920T>G (p.Ile1307Ser) c.3839T>G (p.Ile1280Ser) c.3770T>G (p.Ile1257Ser) c.3638T>G (p.Ile1213Ser) c.3506T>G (p.Ile1169Ser) | |
20 | g.32436372T>A | CA510467400 | ASXL1 | c.3660T>A (p.Ile1220=) c.3477T>A (p.Ile1159=) n.6013T>A c.1869+1791T>A (n.1869+1791T>A) c.3645T>A (p.Ile1215=) c.3657T>A (p.Ile1219=) c.3630T>A (p.Ile1210=) c.3576T>A (p.Ile1192=) c.2976T>A (p.Ile992=) c.3924T>A (p.Ile1308=) c.3921T>A (p.Ile1307=) c.3840T>A (p.Ile1280=) c.3771T>A (p.Ile1257=) c.3639T>A (p.Ile1213=) c.3507T>A (p.Ile1169=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436372T>C | CA510467402 | ASXL1 | c.3660T>C (p.Ile1220=) c.3477T>C (p.Ile1159=) n.6013T>C c.1869+1791T>C (n.1869+1791T>C) c.3645T>C (p.Ile1215=) c.3657T>C (p.Ile1219=) c.3630T>C (p.Ile1210=) c.3576T>C (p.Ile1192=) c.2976T>C (p.Ile992=) c.3924T>C (p.Ile1308=) c.3921T>C (p.Ile1307=) c.3840T>C (p.Ile1280=) c.3771T>C (p.Ile1257=) c.3639T>C (p.Ile1213=) c.3507T>C (p.Ile1169=) | |
20 | g.32436372T>G | CA408563528 | ASXL1 | c.3660T>G (p.Ile1220Met) c.3477T>G (p.Ile1159Met) n.6013T>G c.1869+1791T>G (n.1869+1791T>G) c.3645T>G (p.Ile1215Met) c.3657T>G (p.Ile1219Met) c.3630T>G (p.Ile1210Met) c.3576T>G (p.Ile1192Met) c.2976T>G (p.Ile992Met) c.3924T>G (p.Ile1308Met) c.3921T>G (p.Ile1307Met) c.3840T>G (p.Ile1280Met) c.3771T>G (p.Ile1257Met) c.3639T>G (p.Ile1213Met) c.3507T>G (p.Ile1169Met) | |
20 | g.32436372T= | CA2360293669 | ASXL1 | c.3660T= (p.Ile1220=) c.3477T= (p.Ile1159=) n.6013T= c.1869+1791T= (n.1869+1791T=) c.3645T= (p.Ile1215=) c.3657T= (p.Ile1219=) c.3630T= (p.Ile1210=) c.3576T= (p.Ile1192=) c.2976T= (p.Ile992=) c.3924T= (p.Ile1308=) c.3921T= (p.Ile1307=) c.3840T= (p.Ile1280=) c.3771T= (p.Ile1257=) c.3639T= (p.Ile1213=) c.3507T= (p.Ile1169=) | |
20 | g.32436373A>C | CA408563531 | ASXL1 | c.3661A>C (p.Thr1221Pro) c.3478A>C (p.Thr1160Pro) n.6014A>C c.1869+1792A>C (n.1869+1792A>C) c.3646A>C (p.Thr1216Pro) c.3658A>C (p.Thr1220Pro) c.3631A>C (p.Thr1211Pro) c.3577A>C (p.Thr1193Pro) c.2977A>C (p.Thr993Pro) c.3925A>C (p.Thr1309Pro) c.3922A>C (p.Thr1308Pro) c.3841A>C (p.Thr1281Pro) c.3772A>C (p.Thr1258Pro) c.3640A>C (p.Thr1214Pro) c.3508A>C (p.Thr1170Pro) | |
20 | g.32436373A>G | CA408563530 | ASXL1 | c.3661A>G (p.Thr1221Ala) c.3478A>G (p.Thr1160Ala) n.6014A>G c.1869+1792A>G (n.1869+1792A>G) c.3646A>G (p.Thr1216Ala) c.3658A>G (p.Thr1220Ala) c.3631A>G (p.Thr1211Ala) c.3577A>G (p.Thr1193Ala) c.2977A>G (p.Thr993Ala) c.3925A>G (p.Thr1309Ala) c.3922A>G (p.Thr1308Ala) c.3841A>G (p.Thr1281Ala) c.3772A>G (p.Thr1258Ala) c.3640A>G (p.Thr1214Ala) c.3508A>G (p.Thr1170Ala) | gnomAD v4 |
20 | g.32436373A>T | CA408563529 | ASXL1 | c.3661A>T (p.Thr1221Ser) c.3478A>T (p.Thr1160Ser) n.6014A>T c.1869+1792A>T (n.1869+1792A>T) c.3646A>T (p.Thr1216Ser) c.3658A>T (p.Thr1220Ser) c.3631A>T (p.Thr1211Ser) c.3577A>T (p.Thr1193Ser) c.2977A>T (p.Thr993Ser) c.3925A>T (p.Thr1309Ser) c.3922A>T (p.Thr1308Ser) c.3841A>T (p.Thr1281Ser) c.3772A>T (p.Thr1258Ser) c.3640A>T (p.Thr1214Ser) c.3508A>T (p.Thr1170Ser) | |
20 | g.32436374C>A | CA157008 | ASXL1 | c.3662C>A (p.Thr1221Lys) c.3479C>A (p.Thr1160Lys) n.6015C>A c.1869+1793C>A (n.1869+1793C>A) c.3647C>A (p.Thr1216Lys) c.3659C>A (p.Thr1220Lys) c.3632C>A (p.Thr1211Lys) c.3578C>A (p.Thr1193Lys) c.2978C>A (p.Thr993Lys) c.3926C>A (p.Thr1309Lys) c.3923C>A (p.Thr1308Lys) c.3842C>A (p.Thr1281Lys) c.3773C>A (p.Thr1258Lys) c.3641C>A (p.Thr1214Lys) c.3509C>A (p.Thr1170Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436374C= | CA2360293670 | ASXL1 | c.3662C= (p.Thr1221=) c.3479C= (p.Thr1160=) n.6015C= c.1869+1793C= (n.1869+1793C=) c.3647C= (p.Thr1216=) c.3659C= (p.Thr1220=) c.3632C= (p.Thr1211=) c.3578C= (p.Thr1193=) c.2978C= (p.Thr993=) c.3926C= (p.Thr1309=) c.3923C= (p.Thr1308=) c.3842C= (p.Thr1281=) c.3773C= (p.Thr1258=) c.3641C= (p.Thr1214=) c.3509C= (p.Thr1170=) | |
20 | g.32436374C>G | CA408563532 | ASXL1 | c.3662C>G (p.Thr1221Arg) c.3479C>G (p.Thr1160Arg) n.6015C>G c.1869+1793C>G (n.1869+1793C>G) c.3647C>G (p.Thr1216Arg) c.3659C>G (p.Thr1220Arg) c.3632C>G (p.Thr1211Arg) c.3578C>G (p.Thr1193Arg) c.2978C>G (p.Thr993Arg) c.3926C>G (p.Thr1309Arg) c.3923C>G (p.Thr1308Arg) c.3842C>G (p.Thr1281Arg) c.3773C>G (p.Thr1258Arg) c.3641C>G (p.Thr1214Arg) c.3509C>G (p.Thr1170Arg) | |
20 | g.32436374C>T | CA408563533 | ASXL1 | c.3662C>T (p.Thr1221Ile) c.3479C>T (p.Thr1160Ile) n.6015C>T c.1869+1793C>T (n.1869+1793C>T) c.3647C>T (p.Thr1216Ile) c.3659C>T (p.Thr1220Ile) c.3632C>T (p.Thr1211Ile) c.3578C>T (p.Thr1193Ile) c.2978C>T (p.Thr993Ile) c.3926C>T (p.Thr1309Ile) c.3923C>T (p.Thr1308Ile) c.3842C>T (p.Thr1281Ile) c.3773C>T (p.Thr1258Ile) c.3641C>T (p.Thr1214Ile) c.3509C>T (p.Thr1170Ile) | dbSNP gnomAD v4 |
20 | g.32436375A= | CA2360293671 | ASXL1 | c.3663A= (p.Thr1221=) c.3480A= (p.Thr1160=) n.6016A= c.1869+1794A= (n.1869+1794A=) c.3648A= (p.Thr1216=) c.3660A= (p.Thr1220=) c.3633A= (p.Thr1211=) c.3579A= (p.Thr1193=) c.2979A= (p.Thr993=) c.3927A= (p.Thr1309=) c.3924A= (p.Thr1308=) c.3843A= (p.Thr1281=) c.3774A= (p.Thr1258=) c.3642A= (p.Thr1214=) c.3510A= (p.Thr1170=) | |
20 | g.32436375A>C | CA9808872 | ASXL1 | c.3663A>C (p.Thr1221=) c.3480A>C (p.Thr1160=) n.6016A>C c.1869+1794A>C (n.1869+1794A>C) c.3648A>C (p.Thr1216=) c.3660A>C (p.Thr1220=) c.3633A>C (p.Thr1211=) c.3579A>C (p.Thr1193=) c.2979A>C (p.Thr993=) c.3927A>C (p.Thr1309=) c.3924A>C (p.Thr1308=) c.3843A>C (p.Thr1281=) c.3774A>C (p.Thr1258=) c.3642A>C (p.Thr1214=) c.3510A>C (p.Thr1170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436375A>G | CA510467405 | ASXL1 | c.3663A>G (p.Thr1221=) c.3480A>G (p.Thr1160=) n.6016A>G c.1869+1794A>G (n.1869+1794A>G) c.3648A>G (p.Thr1216=) c.3660A>G (p.Thr1220=) c.3633A>G (p.Thr1211=) c.3579A>G (p.Thr1193=) c.2979A>G (p.Thr993=) c.3927A>G (p.Thr1309=) c.3924A>G (p.Thr1308=) c.3843A>G (p.Thr1281=) c.3774A>G (p.Thr1258=) c.3642A>G (p.Thr1214=) c.3510A>G (p.Thr1170=) | ClinVar gnomAD v4 |
20 | g.32436375A>T | CA510467407 | ASXL1 | c.3663A>T (p.Thr1221=) c.3480A>T (p.Thr1160=) n.6016A>T c.1869+1794A>T (n.1869+1794A>T) c.3648A>T (p.Thr1216=) c.3660A>T (p.Thr1220=) c.3633A>T (p.Thr1211=) c.3579A>T (p.Thr1193=) c.2979A>T (p.Thr993=) c.3927A>T (p.Thr1309=) c.3924A>T (p.Thr1308=) c.3843A>T (p.Thr1281=) c.3774A>T (p.Thr1258=) c.3642A>T (p.Thr1214=) c.3510A>T (p.Thr1170=) | |
20 | g.32436376del | CA2816151306 | ASXL1 | c.3664del (p.Ser1222ProfsTer?) c.3481del (p.Ser1161ProfsTer?) n.6017del c.1869+1795del (n.1869+1795del) c.3649del (p.Ser1217ProfsTer?) c.3661del (p.Ser1221ProfsTer?) c.3634del (p.Ser1212ProfsTer?) c.3580del (p.Ser1194ProfsTer?) c.2980del (p.Ser994ProfsTer?) c.3928del (p.Ser1310ProfsTer?) c.3925del (p.Ser1309ProfsTer?) c.3844del (p.Ser1282ProfsTer?) c.3775del (p.Ser1259ProfsTer?) c.3643del (p.Ser1215ProfsTer?) c.3511del (p.Ser1171ProfsTer?) | |
20 | g.32436376T>A | CA408563534 | ASXL1 | c.3664T>A (p.Ser1222Thr) c.3481T>A (p.Ser1161Thr) n.6017T>A c.1869+1795T>A (n.1869+1795T>A) c.3649T>A (p.Ser1217Thr) c.3661T>A (p.Ser1221Thr) c.3634T>A (p.Ser1212Thr) c.3580T>A (p.Ser1194Thr) c.2980T>A (p.Ser994Thr) c.3928T>A (p.Ser1310Thr) c.3925T>A (p.Ser1309Thr) c.3844T>A (p.Ser1282Thr) c.3775T>A (p.Ser1259Thr) c.3643T>A (p.Ser1215Thr) c.3511T>A (p.Ser1171Thr) | |
20 | g.32436376T>C | CA408563535 | ASXL1 | c.3664T>C (p.Ser1222Pro) c.3481T>C (p.Ser1161Pro) n.6017T>C c.1869+1795T>C (n.1869+1795T>C) c.3649T>C (p.Ser1217Pro) c.3661T>C (p.Ser1221Pro) c.3634T>C (p.Ser1212Pro) c.3580T>C (p.Ser1194Pro) c.2980T>C (p.Ser994Pro) c.3928T>C (p.Ser1310Pro) c.3925T>C (p.Ser1309Pro) c.3844T>C (p.Ser1282Pro) c.3775T>C (p.Ser1259Pro) c.3643T>C (p.Ser1215Pro) c.3511T>C (p.Ser1171Pro) | |
20 | g.32436376T>G | CA9808873 | ASXL1 | c.3664T>G (p.Ser1222Ala) c.3481T>G (p.Ser1161Ala) n.6017T>G c.1869+1795T>G (n.1869+1795T>G) c.3649T>G (p.Ser1217Ala) c.3661T>G (p.Ser1221Ala) c.3634T>G (p.Ser1212Ala) c.3580T>G (p.Ser1194Ala) c.2980T>G (p.Ser994Ala) c.3928T>G (p.Ser1310Ala) c.3925T>G (p.Ser1309Ala) c.3844T>G (p.Ser1282Ala) c.3775T>G (p.Ser1259Ala) c.3643T>G (p.Ser1215Ala) c.3511T>G (p.Ser1171Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436376T= | CA2360293672 | ASXL1 | c.3664T= (p.Ser1222=) c.3481T= (p.Ser1161=) n.6017T= c.1869+1795T= (n.1869+1795T=) c.3649T= (p.Ser1217=) c.3661T= (p.Ser1221=) c.3634T= (p.Ser1212=) c.3580T= (p.Ser1194=) c.2980T= (p.Ser994=) c.3928T= (p.Ser1310=) c.3925T= (p.Ser1309=) c.3844T= (p.Ser1282=) c.3775T= (p.Ser1259=) c.3643T= (p.Ser1215=) c.3511T= (p.Ser1171=) | |
20 | g.32436378_32436380del | CA2652401236 | ASXL1 | c.3666_3668del (p.Ser1223del) c.3483_3485del (p.Ser1162del) n.6019_6021del c.1869+1797_1869+1799del (n.1869+1797_1869+1799del) c.3651_3653del (p.Ser1218del) c.3663_3665del (p.Ser1222del) c.3636_3638del (p.Ser1213del) c.3582_3584del (p.Ser1195del) c.2982_2984del (p.Ser995del) c.3930_3932del (p.Ser1311del) c.3927_3929del (p.Ser1310del) c.3846_3848del (p.Ser1283del) c.3777_3779del (p.Ser1260del) c.3645_3647del (p.Ser1216del) c.3513_3515del (p.Ser1172del) | gnomAD v4 |
20 | g.32436377C>A | CA408563536 | ASXL1 | c.3665C>A (p.Ser1222Tyr) c.3482C>A (p.Ser1161Tyr) n.6018C>A c.1869+1796C>A (n.1869+1796C>A) c.3650C>A (p.Ser1217Tyr) c.3662C>A (p.Ser1221Tyr) c.3635C>A (p.Ser1212Tyr) c.3581C>A (p.Ser1194Tyr) c.2981C>A (p.Ser994Tyr) c.3929C>A (p.Ser1310Tyr) c.3926C>A (p.Ser1309Tyr) c.3845C>A (p.Ser1282Tyr) c.3776C>A (p.Ser1259Tyr) c.3644C>A (p.Ser1215Tyr) c.3512C>A (p.Ser1171Tyr) | |
20 | g.32436377C= | CA2360293673 | ASXL1 | c.3665C= (p.Ser1222=) c.3482C= (p.Ser1161=) n.6018C= c.1869+1796C= (n.1869+1796C=) c.3650C= (p.Ser1217=) c.3662C= (p.Ser1221=) c.3635C= (p.Ser1212=) c.3581C= (p.Ser1194=) c.2981C= (p.Ser994=) c.3929C= (p.Ser1310=) c.3926C= (p.Ser1309=) c.3845C= (p.Ser1282=) c.3776C= (p.Ser1259=) c.3644C= (p.Ser1215=) c.3512C= (p.Ser1171=) | |
20 | g.32436377C>G | CA408563537 | ASXL1 | c.3665C>G (p.Ser1222Cys) c.3482C>G (p.Ser1161Cys) n.6018C>G c.1869+1796C>G (n.1869+1796C>G) c.3650C>G (p.Ser1217Cys) c.3662C>G (p.Ser1221Cys) c.3635C>G (p.Ser1212Cys) c.3581C>G (p.Ser1194Cys) c.2981C>G (p.Ser994Cys) c.3929C>G (p.Ser1310Cys) c.3926C>G (p.Ser1309Cys) c.3845C>G (p.Ser1282Cys) c.3776C>G (p.Ser1259Cys) c.3644C>G (p.Ser1215Cys) c.3512C>G (p.Ser1171Cys) | |
20 | g.32436377C>T | CA408563538 | ASXL1 | c.3665C>T (p.Ser1222Phe) c.3482C>T (p.Ser1161Phe) n.6018C>T c.1869+1796C>T (n.1869+1796C>T) c.3650C>T (p.Ser1217Phe) c.3662C>T (p.Ser1221Phe) c.3635C>T (p.Ser1212Phe) c.3581C>T (p.Ser1194Phe) c.2981C>T (p.Ser994Phe) c.3929C>T (p.Ser1310Phe) c.3926C>T (p.Ser1309Phe) c.3845C>T (p.Ser1282Phe) c.3776C>T (p.Ser1259Phe) c.3644C>T (p.Ser1215Phe) c.3512C>T (p.Ser1171Phe) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436378C>A | CA510467410 | ASXL1 | c.3666C>A (p.Ser1222=) c.3483C>A (p.Ser1161=) n.6019C>A c.1869+1797C>A (n.1869+1797C>A) c.3651C>A (p.Ser1217=) c.3663C>A (p.Ser1221=) c.3636C>A (p.Ser1212=) c.3582C>A (p.Ser1194=) c.2982C>A (p.Ser994=) c.3930C>A (p.Ser1310=) c.3927C>A (p.Ser1309=) c.3846C>A (p.Ser1282=) c.3777C>A (p.Ser1259=) c.3645C>A (p.Ser1215=) c.3513C>A (p.Ser1171=) | |
20 | g.32436378C= | CA2360293674 | ASXL1 | c.3666C= (p.Ser1222=) c.3483C= (p.Ser1161=) n.6019C= c.1869+1797C= (n.1869+1797C=) c.3651C= (p.Ser1217=) c.3663C= (p.Ser1221=) c.3636C= (p.Ser1212=) c.3582C= (p.Ser1194=) c.2982C= (p.Ser994=) c.3930C= (p.Ser1310=) c.3927C= (p.Ser1309=) c.3846C= (p.Ser1282=) c.3777C= (p.Ser1259=) c.3645C= (p.Ser1215=) c.3513C= (p.Ser1171=) | |
20 | g.32436378C>G | CA510467411 | ASXL1 | c.3666C>G (p.Ser1222=) c.3483C>G (p.Ser1161=) n.6019C>G c.1869+1797C>G (n.1869+1797C>G) c.3651C>G (p.Ser1217=) c.3663C>G (p.Ser1221=) c.3636C>G (p.Ser1212=) c.3582C>G (p.Ser1194=) c.2982C>G (p.Ser994=) c.3930C>G (p.Ser1310=) c.3927C>G (p.Ser1309=) c.3846C>G (p.Ser1282=) c.3777C>G (p.Ser1259=) c.3645C>G (p.Ser1215=) c.3513C>G (p.Ser1171=) | |
20 | g.32436378C>T | CA510467414 | ASXL1 | c.3666C>T (p.Ser1222=) c.3483C>T (p.Ser1161=) n.6019C>T c.1869+1797C>T (n.1869+1797C>T) c.3651C>T (p.Ser1217=) c.3663C>T (p.Ser1221=) c.3636C>T (p.Ser1212=) c.3582C>T (p.Ser1194=) c.2982C>T (p.Ser994=) c.3930C>T (p.Ser1310=) c.3927C>T (p.Ser1309=) c.3846C>T (p.Ser1282=) c.3777C>T (p.Ser1259=) c.3645C>T (p.Ser1215=) c.3513C>T (p.Ser1171=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436379T>A | CA408563539 | ASXL1 | c.3667T>A (p.Ser1223Thr) c.3484T>A (p.Ser1162Thr) n.6020T>A c.1869+1798T>A (n.1869+1798T>A) c.3652T>A (p.Ser1218Thr) c.3664T>A (p.Ser1222Thr) c.3637T>A (p.Ser1213Thr) c.3583T>A (p.Ser1195Thr) c.2983T>A (p.Ser995Thr) c.3931T>A (p.Ser1311Thr) c.3928T>A (p.Ser1310Thr) c.3847T>A (p.Ser1283Thr) c.3778T>A (p.Ser1260Thr) c.3646T>A (p.Ser1216Thr) c.3514T>A (p.Ser1172Thr) | |
20 | g.32436379T>C | CA408563540 | ASXL1 | c.3667T>C (p.Ser1223Pro) c.3484T>C (p.Ser1162Pro) n.6020T>C c.1869+1798T>C (n.1869+1798T>C) c.3652T>C (p.Ser1218Pro) c.3664T>C (p.Ser1222Pro) c.3637T>C (p.Ser1213Pro) c.3583T>C (p.Ser1195Pro) c.2983T>C (p.Ser995Pro) c.3931T>C (p.Ser1311Pro) c.3928T>C (p.Ser1310Pro) c.3847T>C (p.Ser1283Pro) c.3778T>C (p.Ser1260Pro) c.3646T>C (p.Ser1216Pro) c.3514T>C (p.Ser1172Pro) | |
20 | g.32436379T>G | CA408563541 | ASXL1 | c.3667T>G (p.Ser1223Ala) c.3484T>G (p.Ser1162Ala) n.6020T>G c.1869+1798T>G (n.1869+1798T>G) c.3652T>G (p.Ser1218Ala) c.3664T>G (p.Ser1222Ala) c.3637T>G (p.Ser1213Ala) c.3583T>G (p.Ser1195Ala) c.2983T>G (p.Ser995Ala) c.3931T>G (p.Ser1311Ala) c.3928T>G (p.Ser1310Ala) c.3847T>G (p.Ser1283Ala) c.3778T>G (p.Ser1260Ala) c.3646T>G (p.Ser1216Ala) c.3514T>G (p.Ser1172Ala) | gnomAD v4 |
20 | g.32436380C>A | CA408563543 | ASXL1 | c.3668C>A (p.Ser1223Tyr) c.3485C>A (p.Ser1162Tyr) n.6021C>A c.1869+1799C>A (n.1869+1799C>A) c.3653C>A (p.Ser1218Tyr) c.3665C>A (p.Ser1222Tyr) c.3638C>A (p.Ser1213Tyr) c.3584C>A (p.Ser1195Tyr) c.2984C>A (p.Ser995Tyr) c.3932C>A (p.Ser1311Tyr) c.3929C>A (p.Ser1310Tyr) c.3848C>A (p.Ser1283Tyr) c.3779C>A (p.Ser1260Tyr) c.3647C>A (p.Ser1216Tyr) c.3515C>A (p.Ser1172Tyr) | |
20 | g.32436380C= | CA2360293675 | ASXL1 | c.3668C= (p.Ser1223=) c.3485C= (p.Ser1162=) n.6021C= c.1869+1799C= (n.1869+1799C=) c.3653C= (p.Ser1218=) c.3665C= (p.Ser1222=) c.3638C= (p.Ser1213=) c.3584C= (p.Ser1195=) c.2984C= (p.Ser995=) c.3932C= (p.Ser1311=) c.3929C= (p.Ser1310=) c.3848C= (p.Ser1283=) c.3779C= (p.Ser1260=) c.3647C= (p.Ser1216=) c.3515C= (p.Ser1172=) | |
20 | g.32436380C>G | CA408563544 | ASXL1 | c.3668C>G (p.Ser1223Cys) c.3485C>G (p.Ser1162Cys) n.6021C>G c.1869+1799C>G (n.1869+1799C>G) c.3653C>G (p.Ser1218Cys) c.3665C>G (p.Ser1222Cys) c.3638C>G (p.Ser1213Cys) c.3584C>G (p.Ser1195Cys) c.2984C>G (p.Ser995Cys) c.3932C>G (p.Ser1311Cys) c.3929C>G (p.Ser1310Cys) c.3848C>G (p.Ser1283Cys) c.3779C>G (p.Ser1260Cys) c.3647C>G (p.Ser1216Cys) c.3515C>G (p.Ser1172Cys) | |
20 | g.32436380C>T | CA408563542 | ASXL1 | c.3668C>T (p.Ser1223Phe) c.3485C>T (p.Ser1162Phe) n.6021C>T c.1869+1799C>T (n.1869+1799C>T) c.3653C>T (p.Ser1218Phe) c.3665C>T (p.Ser1222Phe) c.3638C>T (p.Ser1213Phe) c.3584C>T (p.Ser1195Phe) c.2984C>T (p.Ser995Phe) c.3932C>T (p.Ser1311Phe) c.3929C>T (p.Ser1310Phe) c.3848C>T (p.Ser1283Phe) c.3779C>T (p.Ser1260Phe) c.3647C>T (p.Ser1216Phe) c.3515C>T (p.Ser1172Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436381T>A | CA510467416 | ASXL1 | c.3669T>A (p.Ser1223=) c.3486T>A (p.Ser1162=) n.6022T>A c.1869+1800T>A (n.1869+1800T>A) c.3654T>A (p.Ser1218=) c.3666T>A (p.Ser1222=) c.3639T>A (p.Ser1213=) c.3585T>A (p.Ser1195=) c.2985T>A (p.Ser995=) c.3933T>A (p.Ser1311=) c.3930T>A (p.Ser1310=) c.3849T>A (p.Ser1283=) c.3780T>A (p.Ser1260=) c.3648T>A (p.Ser1216=) c.3516T>A (p.Ser1172=) | |
20 | g.32436381T>C | CA510467417 | ASXL1 | c.3669T>C (p.Ser1223=) c.3486T>C (p.Ser1162=) n.6022T>C c.1869+1800T>C (n.1869+1800T>C) c.3654T>C (p.Ser1218=) c.3666T>C (p.Ser1222=) c.3639T>C (p.Ser1213=) c.3585T>C (p.Ser1195=) c.2985T>C (p.Ser995=) c.3933T>C (p.Ser1311=) c.3930T>C (p.Ser1310=) c.3849T>C (p.Ser1283=) c.3780T>C (p.Ser1260=) c.3648T>C (p.Ser1216=) c.3516T>C (p.Ser1172=) | |
20 | g.32436381T>G | CA510467418 | ASXL1 | c.3669T>G (p.Ser1223=) c.3486T>G (p.Ser1162=) n.6022T>G c.1869+1800T>G (n.1869+1800T>G) c.3654T>G (p.Ser1218=) c.3666T>G (p.Ser1222=) c.3639T>G (p.Ser1213=) c.3585T>G (p.Ser1195=) c.2985T>G (p.Ser995=) c.3933T>G (p.Ser1311=) c.3930T>G (p.Ser1310=) c.3849T>G (p.Ser1283=) c.3780T>G (p.Ser1260=) c.3648T>G (p.Ser1216=) c.3516T>G (p.Ser1172=) | |
20 | g.32436382A>C | CA510467420 | ASXL1 | c.3670A>C (p.Arg1224=) c.3487A>C (p.Arg1163=) n.6023A>C c.1869+1801A>C (n.1869+1801A>C) c.3655A>C (p.Arg1219=) c.3667A>C (p.Arg1223=) c.3640A>C (p.Arg1214=) c.3586A>C (p.Arg1196=) c.2986A>C (p.Arg996=) c.3934A>C (p.Arg1312=) c.3931A>C (p.Arg1311=) c.3850A>C (p.Arg1284=) c.3781A>C (p.Arg1261=) c.3649A>C (p.Arg1217=) c.3517A>C (p.Arg1173=) | |
20 | g.32436382A>G | CA408563545 | ASXL1 | c.3670A>G (p.Arg1224Gly) c.3487A>G (p.Arg1163Gly) n.6023A>G c.1869+1801A>G (n.1869+1801A>G) c.3655A>G (p.Arg1219Gly) c.3667A>G (p.Arg1223Gly) c.3640A>G (p.Arg1214Gly) c.3586A>G (p.Arg1196Gly) c.2986A>G (p.Arg996Gly) c.3934A>G (p.Arg1312Gly) c.3931A>G (p.Arg1311Gly) c.3850A>G (p.Arg1284Gly) c.3781A>G (p.Arg1261Gly) c.3649A>G (p.Arg1217Gly) c.3517A>G (p.Arg1173Gly) | gnomAD v4 |
20 | g.32436382A>T | CA408563546 | ASXL1 | c.3670A>T (p.Arg1224Trp) c.3487A>T (p.Arg1163Trp) n.6023A>T c.1869+1801A>T (n.1869+1801A>T) c.3655A>T (p.Arg1219Trp) c.3667A>T (p.Arg1223Trp) c.3640A>T (p.Arg1214Trp) c.3586A>T (p.Arg1196Trp) c.2986A>T (p.Arg996Trp) c.3934A>T (p.Arg1312Trp) c.3931A>T (p.Arg1311Trp) c.3850A>T (p.Arg1284Trp) c.3781A>T (p.Arg1261Trp) c.3649A>T (p.Arg1217Trp) c.3517A>T (p.Arg1173Trp) | |
20 | g.32436383G>A | CA408563547 | ASXL1 | c.3671G>A (p.Arg1224Lys) c.3488G>A (p.Arg1163Lys) n.6024G>A c.1869+1802G>A (n.1869+1802G>A) c.3656G>A (p.Arg1219Lys) c.3668G>A (p.Arg1223Lys) c.3641G>A (p.Arg1214Lys) c.3587G>A (p.Arg1196Lys) c.2987G>A (p.Arg996Lys) c.3935G>A (p.Arg1312Lys) c.3932G>A (p.Arg1311Lys) c.3851G>A (p.Arg1284Lys) c.3782G>A (p.Arg1261Lys) c.3650G>A (p.Arg1217Lys) c.3518G>A (p.Arg1173Lys) | |
20 | g.32436383G>C | CA9808874 | ASXL1 | c.3671G>C (p.Arg1224Thr) c.3488G>C (p.Arg1163Thr) n.6024G>C c.1869+1802G>C (n.1869+1802G>C) c.3656G>C (p.Arg1219Thr) c.3668G>C (p.Arg1223Thr) c.3641G>C (p.Arg1214Thr) c.3587G>C (p.Arg1196Thr) c.2987G>C (p.Arg996Thr) c.3935G>C (p.Arg1312Thr) c.3932G>C (p.Arg1311Thr) c.3851G>C (p.Arg1284Thr) c.3782G>C (p.Arg1261Thr) c.3650G>C (p.Arg1217Thr) c.3518G>C (p.Arg1173Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.32436383G= | CA2360293676 | ASXL1 | c.3671G= (p.Arg1224=) c.3488G= (p.Arg1163=) n.6024G= c.1869+1802G= (n.1869+1802G=) c.3656G= (p.Arg1219=) c.3668G= (p.Arg1223=) c.3641G= (p.Arg1214=) c.3587G= (p.Arg1196=) c.2987G= (p.Arg996=) c.3935G= (p.Arg1312=) c.3932G= (p.Arg1311=) c.3851G= (p.Arg1284=) c.3782G= (p.Arg1261=) c.3650G= (p.Arg1217=) c.3518G= (p.Arg1173=) | |
20 | g.32436383G>T | CA408563548 | ASXL1 | c.3671G>T (p.Arg1224Met) c.3488G>T (p.Arg1163Met) n.6024G>T c.1869+1802G>T (n.1869+1802G>T) c.3656G>T (p.Arg1219Met) c.3668G>T (p.Arg1223Met) c.3641G>T (p.Arg1214Met) c.3587G>T (p.Arg1196Met) c.2987G>T (p.Arg996Met) c.3935G>T (p.Arg1312Met) c.3932G>T (p.Arg1311Met) c.3851G>T (p.Arg1284Met) c.3782G>T (p.Arg1261Met) c.3650G>T (p.Arg1217Met) c.3518G>T (p.Arg1173Met) | |
20 | g.32436384G>A | CA510467421 | ASXL1 | c.3672G>A (p.Arg1224=) c.3489G>A (p.Arg1163=) n.6025G>A c.1869+1803G>A (n.1869+1803G>A) c.3657G>A (p.Arg1219=) c.3669G>A (p.Arg1223=) c.3642G>A (p.Arg1214=) c.3588G>A (p.Arg1196=) c.2988G>A (p.Arg996=) c.3936G>A (p.Arg1312=) c.3933G>A (p.Arg1311=) c.3852G>A (p.Arg1284=) c.3783G>A (p.Arg1261=) c.3651G>A (p.Arg1217=) c.3519G>A (p.Arg1173=) | |
20 | g.32436384G>C | CA408563549 | ASXL1 | c.3672G>C (p.Arg1224Ser) c.3489G>C (p.Arg1163Ser) n.6025G>C c.1869+1803G>C (n.1869+1803G>C) c.3657G>C (p.Arg1219Ser) c.3669G>C (p.Arg1223Ser) c.3642G>C (p.Arg1214Ser) c.3588G>C (p.Arg1196Ser) c.2988G>C (p.Arg996Ser) c.3936G>C (p.Arg1312Ser) c.3933G>C (p.Arg1311Ser) c.3852G>C (p.Arg1284Ser) c.3783G>C (p.Arg1261Ser) c.3651G>C (p.Arg1217Ser) c.3519G>C (p.Arg1173Ser) | dbSNP |
20 | g.32436384G>T | CA408563550 | ASXL1 | c.3672G>T (p.Arg1224Ser) c.3489G>T (p.Arg1163Ser) n.6025G>T c.1869+1803G>T (n.1869+1803G>T) c.3657G>T (p.Arg1219Ser) c.3669G>T (p.Arg1223Ser) c.3642G>T (p.Arg1214Ser) c.3588G>T (p.Arg1196Ser) c.2988G>T (p.Arg996Ser) c.3936G>T (p.Arg1312Ser) c.3933G>T (p.Arg1311Ser) c.3852G>T (p.Arg1284Ser) c.3783G>T (p.Arg1261Ser) c.3651G>T (p.Arg1217Ser) c.3519G>T (p.Arg1173Ser) | dbSNP |
20 | g.32436385A>C | CA408563551 | ASXL1 | c.3673A>C (p.Lys1225Gln) c.3490A>C (p.Lys1164Gln) n.6026A>C c.1869+1804A>C (n.1869+1804A>C) c.3658A>C (p.Lys1220Gln) c.3670A>C (p.Lys1224Gln) c.3643A>C (p.Lys1215Gln) c.3589A>C (p.Lys1197Gln) c.2989A>C (p.Lys997Gln) c.3937A>C (p.Lys1313Gln) c.3934A>C (p.Lys1312Gln) c.3853A>C (p.Lys1285Gln) c.3784A>C (p.Lys1262Gln) c.3652A>C (p.Lys1218Gln) c.3520A>C (p.Lys1174Gln) | |
20 | g.32436385A>G | CA408563552 | ASXL1 | c.3673A>G (p.Lys1225Glu) c.3490A>G (p.Lys1164Glu) n.6026A>G c.1869+1804A>G (n.1869+1804A>G) c.3658A>G (p.Lys1220Glu) c.3670A>G (p.Lys1224Glu) c.3643A>G (p.Lys1215Glu) c.3589A>G (p.Lys1197Glu) c.2989A>G (p.Lys997Glu) c.3937A>G (p.Lys1313Glu) c.3934A>G (p.Lys1312Glu) c.3853A>G (p.Lys1285Glu) c.3784A>G (p.Lys1262Glu) c.3652A>G (p.Lys1218Glu) c.3520A>G (p.Lys1174Glu) | |
20 | g.32436385A>T | CA408563553 | ASXL1 | c.3673A>T (p.Lys1225Ter) c.3490A>T (p.Lys1164Ter) n.6026A>T c.1869+1804A>T (n.1869+1804A>T) c.3658A>T (p.Lys1220Ter) c.3670A>T (p.Lys1224Ter) c.3643A>T (p.Lys1215Ter) c.3589A>T (p.Lys1197Ter) c.2989A>T (p.Lys997Ter) c.3937A>T (p.Lys1313Ter) c.3934A>T (p.Lys1312Ter) c.3853A>T (p.Lys1285Ter) c.3784A>T (p.Lys1262Ter) c.3652A>T (p.Lys1218Ter) c.3520A>T (p.Lys1174Ter) | |
20 | g.32436386A>C | CA408563554 | ASXL1 | c.3674A>C (p.Lys1225Thr) c.3491A>C (p.Lys1164Thr) n.6027A>C c.1869+1805A>C (n.1869+1805A>C) c.3659A>C (p.Lys1220Thr) c.3671A>C (p.Lys1224Thr) c.3644A>C (p.Lys1215Thr) c.3590A>C (p.Lys1197Thr) c.2990A>C (p.Lys997Thr) c.3938A>C (p.Lys1313Thr) c.3935A>C (p.Lys1312Thr) c.3854A>C (p.Lys1285Thr) c.3785A>C (p.Lys1262Thr) c.3653A>C (p.Lys1218Thr) c.3521A>C (p.Lys1174Thr) | |
20 | g.32436386A>G | CA408563555 | ASXL1 | c.3674A>G (p.Lys1225Arg) c.3491A>G (p.Lys1164Arg) n.6027A>G c.1869+1805A>G (n.1869+1805A>G) c.3659A>G (p.Lys1220Arg) c.3671A>G (p.Lys1224Arg) c.3644A>G (p.Lys1215Arg) c.3590A>G (p.Lys1197Arg) c.2990A>G (p.Lys997Arg) c.3938A>G (p.Lys1313Arg) c.3935A>G (p.Lys1312Arg) c.3854A>G (p.Lys1285Arg) c.3785A>G (p.Lys1262Arg) c.3653A>G (p.Lys1218Arg) c.3521A>G (p.Lys1174Arg) | ClinVar dbSNP gnomAD v4 |
20 | g.32436386A>T | CA408563556 | ASXL1 | c.3674A>T (p.Lys1225Ile) c.3491A>T (p.Lys1164Ile) n.6027A>T c.1869+1805A>T (n.1869+1805A>T) c.3659A>T (p.Lys1220Ile) c.3671A>T (p.Lys1224Ile) c.3644A>T (p.Lys1215Ile) c.3590A>T (p.Lys1197Ile) c.2990A>T (p.Lys997Ile) c.3938A>T (p.Lys1313Ile) c.3935A>T (p.Lys1312Ile) c.3854A>T (p.Lys1285Ile) c.3785A>T (p.Lys1262Ile) c.3653A>T (p.Lys1218Ile) c.3521A>T (p.Lys1174Ile) | |
20 | g.32436387A= | CA2360293677 | ASXL1 | c.3675A= (p.Lys1225=) c.3492A= (p.Lys1164=) n.6028A= c.1869+1806A= (n.1869+1806A=) c.3660A= (p.Lys1220=) c.3672A= (p.Lys1224=) c.3645A= (p.Lys1215=) c.3591A= (p.Lys1197=) c.2991A= (p.Lys997=) c.3939A= (p.Lys1313=) c.3936A= (p.Lys1312=) c.3855A= (p.Lys1285=) c.3786A= (p.Lys1262=) c.3654A= (p.Lys1218=) c.3522A= (p.Lys1174=) | |
20 | g.32436387A>C | CA408563557 | ASXL1 | c.3675A>C (p.Lys1225Asn) c.3492A>C (p.Lys1164Asn) n.6028A>C c.1869+1806A>C (n.1869+1806A>C) c.3660A>C (p.Lys1220Asn) c.3672A>C (p.Lys1224Asn) c.3645A>C (p.Lys1215Asn) c.3591A>C (p.Lys1197Asn) c.2991A>C (p.Lys997Asn) c.3939A>C (p.Lys1313Asn) c.3936A>C (p.Lys1312Asn) c.3855A>C (p.Lys1285Asn) c.3786A>C (p.Lys1262Asn) c.3654A>C (p.Lys1218Asn) c.3522A>C (p.Lys1174Asn) | dbSNP gnomAD v4 |
20 | g.32436387A>G | CA510467541 | ASXL1 | c.3675A>G (p.Lys1225=) c.3492A>G (p.Lys1164=) n.6028A>G c.1869+1806A>G (n.1869+1806A>G) c.3660A>G (p.Lys1220=) c.3672A>G (p.Lys1224=) c.3645A>G (p.Lys1215=) c.3591A>G (p.Lys1197=) c.2991A>G (p.Lys997=) c.3939A>G (p.Lys1313=) c.3936A>G (p.Lys1312=) c.3855A>G (p.Lys1285=) c.3786A>G (p.Lys1262=) c.3654A>G (p.Lys1218=) c.3522A>G (p.Lys1174=) | |
20 | g.32436387A>T | CA9808875 | ASXL1 | c.3675A>T (p.Lys1225Asn) c.3492A>T (p.Lys1164Asn) n.6028A>T c.1869+1806A>T (n.1869+1806A>T) c.3660A>T (p.Lys1220Asn) c.3672A>T (p.Lys1224Asn) c.3645A>T (p.Lys1215Asn) c.3591A>T (p.Lys1197Asn) c.2991A>T (p.Lys997Asn) c.3939A>T (p.Lys1313Asn) c.3936A>T (p.Lys1312Asn) c.3855A>T (p.Lys1285Asn) c.3786A>T (p.Lys1262Asn) c.3654A>T (p.Lys1218Asn) c.3522A>T (p.Lys1174Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436388C>A | CA408563558 | ASXL1 | c.3676C>A (p.Leu1226Met) c.3493C>A (p.Leu1165Met) n.6029C>A c.1869+1807C>A (n.1869+1807C>A) c.3661C>A (p.Leu1221Met) c.3673C>A (p.Leu1225Met) c.3646C>A (p.Leu1216Met) c.3592C>A (p.Leu1198Met) c.2992C>A (p.Leu998Met) c.3940C>A (p.Leu1314Met) c.3937C>A (p.Leu1313Met) c.3856C>A (p.Leu1286Met) c.3787C>A (p.Leu1263Met) c.3655C>A (p.Leu1219Met) c.3523C>A (p.Leu1175Met) | |
20 | g.32436388C= | CA2360293678 | ASXL1 | c.3676C= (p.Leu1226=) c.3493C= (p.Leu1165=) n.6029C= c.1869+1807C= (n.1869+1807C=) c.3661C= (p.Leu1221=) c.3673C= (p.Leu1225=) c.3646C= (p.Leu1216=) c.3592C= (p.Leu1198=) c.2992C= (p.Leu998=) c.3940C= (p.Leu1314=) c.3937C= (p.Leu1313=) c.3856C= (p.Leu1286=) c.3787C= (p.Leu1263=) c.3655C= (p.Leu1219=) c.3523C= (p.Leu1175=) | |
20 | g.32436388C>G | CA408563559 | ASXL1 | c.3676C>G (p.Leu1226Val) c.3493C>G (p.Leu1165Val) n.6029C>G c.1869+1807C>G (n.1869+1807C>G) c.3661C>G (p.Leu1221Val) c.3673C>G (p.Leu1225Val) c.3646C>G (p.Leu1216Val) c.3592C>G (p.Leu1198Val) c.2992C>G (p.Leu998Val) c.3940C>G (p.Leu1314Val) c.3937C>G (p.Leu1313Val) c.3856C>G (p.Leu1286Val) c.3787C>G (p.Leu1263Val) c.3655C>G (p.Leu1219Val) c.3523C>G (p.Leu1175Val) | |
20 | g.32436388C>T | CA510467542 | ASXL1 | c.3676C>T (p.Leu1226=) c.3493C>T (p.Leu1165=) n.6029C>T c.1869+1807C>T (n.1869+1807C>T) c.3661C>T (p.Leu1221=) c.3673C>T (p.Leu1225=) c.3646C>T (p.Leu1216=) c.3592C>T (p.Leu1198=) c.2992C>T (p.Leu998=) c.3940C>T (p.Leu1314=) c.3937C>T (p.Leu1313=) c.3856C>T (p.Leu1286=) c.3787C>T (p.Leu1263=) c.3655C>T (p.Leu1219=) c.3523C>T (p.Leu1175=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436389T>A | CA9808876 | ASXL1 | c.3677T>A (p.Leu1226Gln) c.3494T>A (p.Leu1165Gln) n.6030T>A c.1869+1808T>A (n.1869+1808T>A) c.3662T>A (p.Leu1221Gln) c.3674T>A (p.Leu1225Gln) c.3647T>A (p.Leu1216Gln) c.3593T>A (p.Leu1198Gln) c.2993T>A (p.Leu998Gln) c.3941T>A (p.Leu1314Gln) c.3938T>A (p.Leu1313Gln) c.3857T>A (p.Leu1286Gln) c.3788T>A (p.Leu1263Gln) c.3656T>A (p.Leu1219Gln) c.3524T>A (p.Leu1175Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436389T>C | CA408563560 | ASXL1 | c.3677T>C (p.Leu1226Pro) c.3494T>C (p.Leu1165Pro) n.6030T>C c.1869+1808T>C (n.1869+1808T>C) c.3662T>C (p.Leu1221Pro) c.3674T>C (p.Leu1225Pro) c.3647T>C (p.Leu1216Pro) c.3593T>C (p.Leu1198Pro) c.2993T>C (p.Leu998Pro) c.3941T>C (p.Leu1314Pro) c.3938T>C (p.Leu1313Pro) c.3857T>C (p.Leu1286Pro) c.3788T>C (p.Leu1263Pro) c.3656T>C (p.Leu1219Pro) c.3524T>C (p.Leu1175Pro) | |
20 | g.32436389T>G | CA9808877 | ASXL1 | c.3677T>G (p.Leu1226Arg) c.3494T>G (p.Leu1165Arg) n.6030T>G c.1869+1808T>G (n.1869+1808T>G) c.3662T>G (p.Leu1221Arg) c.3674T>G (p.Leu1225Arg) c.3647T>G (p.Leu1216Arg) c.3593T>G (p.Leu1198Arg) c.2993T>G (p.Leu998Arg) c.3941T>G (p.Leu1314Arg) c.3938T>G (p.Leu1313Arg) c.3857T>G (p.Leu1286Arg) c.3788T>G (p.Leu1263Arg) c.3656T>G (p.Leu1219Arg) c.3524T>G (p.Leu1175Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436389T= | CA2360293679 | ASXL1 | c.3677T= (p.Leu1226=) c.3494T= (p.Leu1165=) n.6030T= c.1869+1808T= (n.1869+1808T=) c.3662T= (p.Leu1221=) c.3674T= (p.Leu1225=) c.3647T= (p.Leu1216=) c.3593T= (p.Leu1198=) c.2993T= (p.Leu998=) c.3941T= (p.Leu1314=) c.3938T= (p.Leu1313=) c.3857T= (p.Leu1286=) c.3788T= (p.Leu1263=) c.3656T= (p.Leu1219=) c.3524T= (p.Leu1175=) | |
20 | g.32436389_32436390del | CA2580098169 | ASXL1 | c.3677_3678del (p.Leu1226ArgfsTer13) c.3494_3495del (p.Leu1165ArgfsTer13) n.6030_6031del c.1869+1808_1869+1809del (n.1869+1808_1869+1809del) c.3662_3663del (p.Leu1221ArgfsTer13) c.3674_3675del (p.Leu1225ArgfsTer13) c.3647_3648del (p.Leu1216ArgfsTer13) c.3593_3594del (p.Leu1198ArgfsTer13) c.2993_2994del (p.Leu998ArgfsTer13) c.3941_3942del (p.Leu1314ArgfsTer13) c.3938_3939del (p.Leu1313ArgfsTer13) c.3857_3858del (p.Leu1286ArgfsTer13) c.3788_3789del (p.Leu1263ArgfsTer13) c.3656_3657del (p.Leu1219ArgfsTer13) c.3524_3525del (p.Leu1175ArgfsTer13) | ClinVar |
20 | g.32436390G>A | CA510467547 | ASXL1 | c.3678G>A (p.Leu1226=) c.3495G>A (p.Leu1165=) n.6031G>A c.1869+1809G>A (n.1869+1809G>A) c.3663G>A (p.Leu1221=) c.3675G>A (p.Leu1225=) c.3648G>A (p.Leu1216=) c.3594G>A (p.Leu1198=) c.2994G>A (p.Leu998=) c.3942G>A (p.Leu1314=) c.3939G>A (p.Leu1313=) c.3858G>A (p.Leu1286=) c.3789G>A (p.Leu1263=) c.3657G>A (p.Leu1219=) c.3525G>A (p.Leu1175=) | gnomAD v4 |
20 | g.32436390G>C | CA510467545 | ASXL1 | c.3678G>C (p.Leu1226=) c.3495G>C (p.Leu1165=) n.6031G>C c.1869+1809G>C (n.1869+1809G>C) c.3663G>C (p.Leu1221=) c.3675G>C (p.Leu1225=) c.3648G>C (p.Leu1216=) c.3594G>C (p.Leu1198=) c.2994G>C (p.Leu998=) c.3942G>C (p.Leu1314=) c.3939G>C (p.Leu1313=) c.3858G>C (p.Leu1286=) c.3789G>C (p.Leu1263=) c.3657G>C (p.Leu1219=) c.3525G>C (p.Leu1175=) | |
20 | g.32436390G>T | CA510467546 | ASXL1 | c.3678G>T (p.Leu1226=) c.3495G>T (p.Leu1165=) n.6031G>T c.1869+1809G>T (n.1869+1809G>T) c.3663G>T (p.Leu1221=) c.3675G>T (p.Leu1225=) c.3648G>T (p.Leu1216=) c.3594G>T (p.Leu1198=) c.2994G>T (p.Leu998=) c.3942G>T (p.Leu1314=) c.3939G>T (p.Leu1313=) c.3858G>T (p.Leu1286=) c.3789G>T (p.Leu1263=) c.3657G>T (p.Leu1219=) c.3525G>T (p.Leu1175=) | |
20 | g.32436391G>A | CA9808878 | ASXL1 | c.3679G>A (p.Glu1227Lys) c.3496G>A (p.Glu1166Lys) n.6032G>A c.1869+1810G>A (n.1869+1810G>A) c.3664G>A (p.Glu1222Lys) c.3676G>A (p.Glu1226Lys) c.3649G>A (p.Glu1217Lys) c.3595G>A (p.Glu1199Lys) c.2995G>A (p.Glu999Lys) c.3943G>A (p.Glu1315Lys) c.3940G>A (p.Glu1314Lys) c.3859G>A (p.Glu1287Lys) c.3790G>A (p.Glu1264Lys) c.3658G>A (p.Glu1220Lys) c.3526G>A (p.Glu1176Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436391G>C | CA408563561 | ASXL1 | c.3679G>C (p.Glu1227Gln) c.3496G>C (p.Glu1166Gln) n.6032G>C c.1869+1810G>C (n.1869+1810G>C) c.3664G>C (p.Glu1222Gln) c.3676G>C (p.Glu1226Gln) c.3649G>C (p.Glu1217Gln) c.3595G>C (p.Glu1199Gln) c.2995G>C (p.Glu999Gln) c.3943G>C (p.Glu1315Gln) c.3940G>C (p.Glu1314Gln) c.3859G>C (p.Glu1287Gln) c.3790G>C (p.Glu1264Gln) c.3658G>C (p.Glu1220Gln) c.3526G>C (p.Glu1176Gln) | |
20 | g.32436391G= | CA2360293680 | ASXL1 | c.3679G= (p.Glu1227=) c.3496G= (p.Glu1166=) n.6032G= c.1869+1810G= (n.1869+1810G=) c.3664G= (p.Glu1222=) c.3676G= (p.Glu1226=) c.3649G= (p.Glu1217=) c.3595G= (p.Glu1199=) c.2995G= (p.Glu999=) c.3943G= (p.Glu1315=) c.3940G= (p.Glu1314=) c.3859G= (p.Glu1287=) c.3790G= (p.Glu1264=) c.3658G= (p.Glu1220=) c.3526G= (p.Glu1176=) | |
20 | g.32436391G>T | CA408563562 | ASXL1 | c.3679G>T (p.Glu1227Ter) c.3496G>T (p.Glu1166Ter) n.6032G>T c.1869+1810G>T (n.1869+1810G>T) c.3664G>T (p.Glu1222Ter) c.3676G>T (p.Glu1226Ter) c.3649G>T (p.Glu1217Ter) c.3595G>T (p.Glu1199Ter) c.2995G>T (p.Glu999Ter) c.3943G>T (p.Glu1315Ter) c.3940G>T (p.Glu1314Ter) c.3859G>T (p.Glu1287Ter) c.3790G>T (p.Glu1264Ter) c.3658G>T (p.Glu1220Ter) c.3526G>T (p.Glu1176Ter) | |
20 | g.32436392A>C | CA408563563 | ASXL1 | c.3680A>C (p.Glu1227Ala) c.3497A>C (p.Glu1166Ala) n.6033A>C c.1869+1811A>C (n.1869+1811A>C) c.3665A>C (p.Glu1222Ala) c.3677A>C (p.Glu1226Ala) c.3650A>C (p.Glu1217Ala) c.3596A>C (p.Glu1199Ala) c.2996A>C (p.Glu999Ala) c.3944A>C (p.Glu1315Ala) c.3941A>C (p.Glu1314Ala) c.3860A>C (p.Glu1287Ala) c.3791A>C (p.Glu1264Ala) c.3659A>C (p.Glu1220Ala) c.3527A>C (p.Glu1176Ala) | |
20 | g.32436392A>G | CA408563564 | ASXL1 | c.3680A>G (p.Glu1227Gly) c.3497A>G (p.Glu1166Gly) n.6033A>G c.1869+1811A>G (n.1869+1811A>G) c.3665A>G (p.Glu1222Gly) c.3677A>G (p.Glu1226Gly) c.3650A>G (p.Glu1217Gly) c.3596A>G (p.Glu1199Gly) c.2996A>G (p.Glu999Gly) c.3944A>G (p.Glu1315Gly) c.3941A>G (p.Glu1314Gly) c.3860A>G (p.Glu1287Gly) c.3791A>G (p.Glu1264Gly) c.3659A>G (p.Glu1220Gly) c.3527A>G (p.Glu1176Gly) | |
20 | g.32436392A>T | CA408563565 | ASXL1 | c.3680A>T (p.Glu1227Val) c.3497A>T (p.Glu1166Val) n.6033A>T c.1869+1811A>T (n.1869+1811A>T) c.3665A>T (p.Glu1222Val) c.3677A>T (p.Glu1226Val) c.3650A>T (p.Glu1217Val) c.3596A>T (p.Glu1199Val) c.2996A>T (p.Glu999Val) c.3944A>T (p.Glu1315Val) c.3941A>T (p.Glu1314Val) c.3860A>T (p.Glu1287Val) c.3791A>T (p.Glu1264Val) c.3659A>T (p.Glu1220Val) c.3527A>T (p.Glu1176Val) | |
20 | g.32436393A= | CA2360293681 | ASXL1 | c.3681A= (p.Glu1227=) c.3498A= (p.Glu1166=) n.6034A= c.1869+1812A= (n.1869+1812A=) c.3666A= (p.Glu1222=) c.3678A= (p.Glu1226=) c.3651A= (p.Glu1217=) c.3597A= (p.Glu1199=) c.2997A= (p.Glu999=) c.3945A= (p.Glu1315=) c.3942A= (p.Glu1314=) c.3861A= (p.Glu1287=) c.3792A= (p.Glu1264=) c.3660A= (p.Glu1220=) c.3528A= (p.Glu1176=) | |
20 | g.32436393A>C | CA408563566 | ASXL1 | c.3681A>C (p.Glu1227Asp) c.3498A>C (p.Glu1166Asp) n.6034A>C c.1869+1812A>C (n.1869+1812A>C) c.3666A>C (p.Glu1222Asp) c.3678A>C (p.Glu1226Asp) c.3651A>C (p.Glu1217Asp) c.3597A>C (p.Glu1199Asp) c.2997A>C (p.Glu999Asp) c.3945A>C (p.Glu1315Asp) c.3942A>C (p.Glu1314Asp) c.3861A>C (p.Glu1287Asp) c.3792A>C (p.Glu1264Asp) c.3660A>C (p.Glu1220Asp) c.3528A>C (p.Glu1176Asp) | |
20 | g.32436393A>G | CA510467549 | ASXL1 | c.3681A>G (p.Glu1227=) c.3498A>G (p.Glu1166=) n.6034A>G c.1869+1812A>G (n.1869+1812A>G) c.3666A>G (p.Glu1222=) c.3678A>G (p.Glu1226=) c.3651A>G (p.Glu1217=) c.3597A>G (p.Glu1199=) c.2997A>G (p.Glu999=) c.3945A>G (p.Glu1315=) c.3942A>G (p.Glu1314=) c.3861A>G (p.Glu1287=) c.3792A>G (p.Glu1264=) c.3660A>G (p.Glu1220=) c.3528A>G (p.Glu1176=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436393A>T | CA408563567 | ASXL1 | c.3681A>T (p.Glu1227Asp) c.3498A>T (p.Glu1166Asp) n.6034A>T c.1869+1812A>T (n.1869+1812A>T) c.3666A>T (p.Glu1222Asp) c.3678A>T (p.Glu1226Asp) c.3651A>T (p.Glu1217Asp) c.3597A>T (p.Glu1199Asp) c.2997A>T (p.Glu999Asp) c.3945A>T (p.Glu1315Asp) c.3942A>T (p.Glu1314Asp) c.3861A>T (p.Glu1287Asp) c.3792A>T (p.Glu1264Asp) c.3660A>T (p.Glu1220Asp) c.3528A>T (p.Glu1176Asp) | |
20 | g.32436394G>A | CA408563568 | ASXL1 | c.3682G>A (p.Glu1228Lys) c.3499G>A (p.Glu1167Lys) n.6035G>A c.1869+1813G>A (n.1869+1813G>A) c.3667G>A (p.Glu1223Lys) c.3679G>A (p.Glu1227Lys) c.3652G>A (p.Glu1218Lys) c.3598G>A (p.Glu1200Lys) c.2998G>A (p.Glu1000Lys) c.3946G>A (p.Glu1316Lys) c.3943G>A (p.Glu1315Lys) c.3862G>A (p.Glu1288Lys) c.3793G>A (p.Glu1265Lys) c.3661G>A (p.Glu1221Lys) c.3529G>A (p.Glu1177Lys) | dbSNP |
20 | g.32436394G>C | CA408563570 | ASXL1 | c.3682G>C (p.Glu1228Gln) c.3499G>C (p.Glu1167Gln) n.6035G>C c.1869+1813G>C (n.1869+1813G>C) c.3667G>C (p.Glu1223Gln) c.3679G>C (p.Glu1227Gln) c.3652G>C (p.Glu1218Gln) c.3598G>C (p.Glu1200Gln) c.2998G>C (p.Glu1000Gln) c.3946G>C (p.Glu1316Gln) c.3943G>C (p.Glu1315Gln) c.3862G>C (p.Glu1288Gln) c.3793G>C (p.Glu1265Gln) c.3661G>C (p.Glu1221Gln) c.3529G>C (p.Glu1177Gln) | |
20 | g.32436394G>T | CA408563569 | ASXL1 | c.3682G>T (p.Glu1228Ter) c.3499G>T (p.Glu1167Ter) n.6035G>T c.1869+1813G>T (n.1869+1813G>T) c.3667G>T (p.Glu1223Ter) c.3679G>T (p.Glu1227Ter) c.3652G>T (p.Glu1218Ter) c.3598G>T (p.Glu1200Ter) c.2998G>T (p.Glu1000Ter) c.3946G>T (p.Glu1316Ter) c.3943G>T (p.Glu1315Ter) c.3862G>T (p.Glu1288Ter) c.3793G>T (p.Glu1265Ter) c.3661G>T (p.Glu1221Ter) c.3529G>T (p.Glu1177Ter) | dbSNP COSMIC COSMIC |
20 | g.32436395A>C | CA408563571 | ASXL1 | c.3683A>C (p.Glu1228Ala) c.3500A>C (p.Glu1167Ala) n.6036A>C c.1869+1814A>C (n.1869+1814A>C) c.3668A>C (p.Glu1223Ala) c.3680A>C (p.Glu1227Ala) c.3653A>C (p.Glu1218Ala) c.3599A>C (p.Glu1200Ala) c.2999A>C (p.Glu1000Ala) c.3947A>C (p.Glu1316Ala) c.3944A>C (p.Glu1315Ala) c.3863A>C (p.Glu1288Ala) c.3794A>C (p.Glu1265Ala) c.3662A>C (p.Glu1221Ala) c.3530A>C (p.Glu1177Ala) | |
20 | g.32436395A>G | CA408563572 | ASXL1 | c.3683A>G (p.Glu1228Gly) c.3500A>G (p.Glu1167Gly) n.6036A>G c.1869+1814A>G (n.1869+1814A>G) c.3668A>G (p.Glu1223Gly) c.3680A>G (p.Glu1227Gly) c.3653A>G (p.Glu1218Gly) c.3599A>G (p.Glu1200Gly) c.2999A>G (p.Glu1000Gly) c.3947A>G (p.Glu1316Gly) c.3944A>G (p.Glu1315Gly) c.3863A>G (p.Glu1288Gly) c.3794A>G (p.Glu1265Gly) c.3662A>G (p.Glu1221Gly) c.3530A>G (p.Glu1177Gly) | |
20 | g.32436395A>T | CA408563573 | ASXL1 | c.3683A>T (p.Glu1228Val) c.3500A>T (p.Glu1167Val) n.6036A>T c.1869+1814A>T (n.1869+1814A>T) c.3668A>T (p.Glu1223Val) c.3680A>T (p.Glu1227Val) c.3653A>T (p.Glu1218Val) c.3599A>T (p.Glu1200Val) c.2999A>T (p.Glu1000Val) c.3947A>T (p.Glu1316Val) c.3944A>T (p.Glu1315Val) c.3863A>T (p.Glu1288Val) c.3794A>T (p.Glu1265Val) c.3662A>T (p.Glu1221Val) c.3530A>T (p.Glu1177Val) | |
20 | g.32436396A>C | CA408563574 | ASXL1 | c.3684A>C (p.Glu1228Asp) c.3501A>C (p.Glu1167Asp) n.6037A>C c.1869+1815A>C (n.1869+1815A>C) c.3669A>C (p.Glu1223Asp) c.3681A>C (p.Glu1227Asp) c.3654A>C (p.Glu1218Asp) c.3600A>C (p.Glu1200Asp) c.3000A>C (p.Glu1000Asp) c.3948A>C (p.Glu1316Asp) c.3945A>C (p.Glu1315Asp) c.3864A>C (p.Glu1288Asp) c.3795A>C (p.Glu1265Asp) c.3663A>C (p.Glu1221Asp) c.3531A>C (p.Glu1177Asp) | |
20 | g.32436396A>G | CA510467552 | ASXL1 | c.3684A>G (p.Glu1228=) c.3501A>G (p.Glu1167=) n.6037A>G c.1869+1815A>G (n.1869+1815A>G) c.3669A>G (p.Glu1223=) c.3681A>G (p.Glu1227=) c.3654A>G (p.Glu1218=) c.3600A>G (p.Glu1200=) c.3000A>G (p.Glu1000=) c.3948A>G (p.Glu1316=) c.3945A>G (p.Glu1315=) c.3864A>G (p.Glu1288=) c.3795A>G (p.Glu1265=) c.3663A>G (p.Glu1221=) c.3531A>G (p.Glu1177=) | |
20 | g.32436396A>T | CA408563575 | ASXL1 | c.3684A>T (p.Glu1228Asp) c.3501A>T (p.Glu1167Asp) n.6037A>T c.1869+1815A>T (n.1869+1815A>T) c.3669A>T (p.Glu1223Asp) c.3681A>T (p.Glu1227Asp) c.3654A>T (p.Glu1218Asp) c.3600A>T (p.Glu1200Asp) c.3000A>T (p.Glu1000Asp) c.3948A>T (p.Glu1316Asp) c.3945A>T (p.Glu1315Asp) c.3864A>T (p.Glu1288Asp) c.3795A>T (p.Glu1265Asp) c.3663A>T (p.Glu1221Asp) c.3531A>T (p.Glu1177Asp) | |
20 | g.32436397A= | CA2360293682 | ASXL1 | c.3685A= (p.Met1229=) c.3502A= (p.Met1168=) n.6038A= c.1869+1816A= (n.1869+1816A=) c.3670A= (p.Met1224=) c.3682A= (p.Met1228=) c.3655A= (p.Met1219=) c.3601A= (p.Met1201=) c.3001A= (p.Met1001=) c.3949A= (p.Met1317=) c.3946A= (p.Met1316=) c.3865A= (p.Met1289=) c.3796A= (p.Met1266=) c.3664A= (p.Met1222=) c.3532A= (p.Met1178=) | |
20 | g.32436397A>C | CA408563576 | ASXL1 | c.3685A>C (p.Met1229Leu) c.3502A>C (p.Met1168Leu) n.6038A>C c.1869+1816A>C (n.1869+1816A>C) c.3670A>C (p.Met1224Leu) c.3682A>C (p.Met1228Leu) c.3655A>C (p.Met1219Leu) c.3601A>C (p.Met1201Leu) c.3001A>C (p.Met1001Leu) c.3949A>C (p.Met1317Leu) c.3946A>C (p.Met1316Leu) c.3865A>C (p.Met1289Leu) c.3796A>C (p.Met1266Leu) c.3664A>C (p.Met1222Leu) c.3532A>C (p.Met1178Leu) | |
20 | g.32436397A>G | CA408563577 | ASXL1 | c.3685A>G (p.Met1229Val) c.3502A>G (p.Met1168Val) n.6038A>G c.1869+1816A>G (n.1869+1816A>G) c.3670A>G (p.Met1224Val) c.3682A>G (p.Met1228Val) c.3655A>G (p.Met1219Val) c.3601A>G (p.Met1201Val) c.3001A>G (p.Met1001Val) c.3949A>G (p.Met1317Val) c.3946A>G (p.Met1316Val) c.3865A>G (p.Met1289Val) c.3796A>G (p.Met1266Val) c.3664A>G (p.Met1222Val) c.3532A>G (p.Met1178Val) | dbSNP gnomAD v4 |
20 | g.32436397A>T | CA408563578 | ASXL1 | c.3685A>T (p.Met1229Leu) c.3502A>T (p.Met1168Leu) n.6038A>T c.1869+1816A>T (n.1869+1816A>T) c.3670A>T (p.Met1224Leu) c.3682A>T (p.Met1228Leu) c.3655A>T (p.Met1219Leu) c.3601A>T (p.Met1201Leu) c.3001A>T (p.Met1001Leu) c.3949A>T (p.Met1317Leu) c.3946A>T (p.Met1316Leu) c.3865A>T (p.Met1289Leu) c.3796A>T (p.Met1266Leu) c.3664A>T (p.Met1222Leu) c.3532A>T (p.Met1178Leu) | |
20 | g.32436398T>A | CA408563579 | ASXL1 | c.3686T>A (p.Met1229Lys) c.3503T>A (p.Met1168Lys) n.6039T>A c.1869+1817T>A (n.1869+1817T>A) c.3671T>A (p.Met1224Lys) c.3683T>A (p.Met1228Lys) c.3656T>A (p.Met1219Lys) c.3602T>A (p.Met1201Lys) c.3002T>A (p.Met1001Lys) c.3950T>A (p.Met1317Lys) c.3947T>A (p.Met1316Lys) c.3866T>A (p.Met1289Lys) c.3797T>A (p.Met1266Lys) c.3665T>A (p.Met1222Lys) c.3533T>A (p.Met1178Lys) | |
20 | g.32436398T>C | CA408563580 | ASXL1 | c.3686T>C (p.Met1229Thr) c.3503T>C (p.Met1168Thr) n.6039T>C c.1869+1817T>C (n.1869+1817T>C) c.3671T>C (p.Met1224Thr) c.3683T>C (p.Met1228Thr) c.3656T>C (p.Met1219Thr) c.3602T>C (p.Met1201Thr) c.3002T>C (p.Met1001Thr) c.3950T>C (p.Met1317Thr) c.3947T>C (p.Met1316Thr) c.3866T>C (p.Met1289Thr) c.3797T>C (p.Met1266Thr) c.3665T>C (p.Met1222Thr) c.3533T>C (p.Met1178Thr) | gnomAD v4 |
20 | g.32436398T>G | CA408563581 | ASXL1 | c.3686T>G (p.Met1229Arg) c.3503T>G (p.Met1168Arg) n.6039T>G c.1869+1817T>G (n.1869+1817T>G) c.3671T>G (p.Met1224Arg) c.3683T>G (p.Met1228Arg) c.3656T>G (p.Met1219Arg) c.3602T>G (p.Met1201Arg) c.3002T>G (p.Met1001Arg) c.3950T>G (p.Met1317Arg) c.3947T>G (p.Met1316Arg) c.3866T>G (p.Met1289Arg) c.3797T>G (p.Met1266Arg) c.3665T>G (p.Met1222Arg) c.3533T>G (p.Met1178Arg) | |
20 | g.32436399G>A | CA408563584 | ASXL1 | c.3687G>A (p.Met1229Ile) c.3504G>A (p.Met1168Ile) n.6040G>A c.1869+1818G>A (n.1869+1818G>A) c.3672G>A (p.Met1224Ile) c.3684G>A (p.Met1228Ile) c.3657G>A (p.Met1219Ile) c.3603G>A (p.Met1201Ile) c.3003G>A (p.Met1001Ile) c.3951G>A (p.Met1317Ile) c.3948G>A (p.Met1316Ile) c.3867G>A (p.Met1289Ile) c.3798G>A (p.Met1266Ile) c.3666G>A (p.Met1222Ile) c.3534G>A (p.Met1178Ile) | dbSNP |
20 | g.32436399G>C | CA408563583 | ASXL1 | c.3687G>C (p.Met1229Ile) c.3504G>C (p.Met1168Ile) n.6040G>C c.1869+1818G>C (n.1869+1818G>C) c.3672G>C (p.Met1224Ile) c.3684G>C (p.Met1228Ile) c.3657G>C (p.Met1219Ile) c.3603G>C (p.Met1201Ile) c.3003G>C (p.Met1001Ile) c.3951G>C (p.Met1317Ile) c.3948G>C (p.Met1316Ile) c.3867G>C (p.Met1289Ile) c.3798G>C (p.Met1266Ile) c.3666G>C (p.Met1222Ile) c.3534G>C (p.Met1178Ile) | |
20 | g.32436399G>T | CA408563582 | ASXL1 | c.3687G>T (p.Met1229Ile) c.3504G>T (p.Met1168Ile) n.6040G>T c.1869+1818G>T (n.1869+1818G>T) c.3672G>T (p.Met1224Ile) c.3684G>T (p.Met1228Ile) c.3657G>T (p.Met1219Ile) c.3603G>T (p.Met1201Ile) c.3003G>T (p.Met1001Ile) c.3951G>T (p.Met1317Ile) c.3948G>T (p.Met1316Ile) c.3867G>T (p.Met1289Ile) c.3798G>T (p.Met1266Ile) c.3666G>T (p.Met1222Ile) c.3534G>T (p.Met1178Ile) | |
20 | g.32436400G>A | CA313926355 | ASXL1 | c.3688G>A (p.Asp1230Asn) c.3505G>A (p.Asp1169Asn) n.6041G>A c.1869+1819G>A (n.1869+1819G>A) c.3673G>A (p.Asp1225Asn) c.3685G>A (p.Asp1229Asn) c.3658G>A (p.Asp1220Asn) c.3604G>A (p.Asp1202Asn) c.3004G>A (p.Asp1002Asn) c.3952G>A (p.Asp1318Asn) c.3949G>A (p.Asp1317Asn) c.3868G>A (p.Asp1290Asn) c.3799G>A (p.Asp1267Asn) c.3667G>A (p.Asp1223Asn) c.3535G>A (p.Asp1179Asn) | dbSNP |
20 | g.32436400G>C | CA9808880 | ASXL1 | c.3688G>C (p.Asp1230His) c.3505G>C (p.Asp1169His) n.6041G>C c.1869+1819G>C (n.1869+1819G>C) c.3673G>C (p.Asp1225His) c.3685G>C (p.Asp1229His) c.3658G>C (p.Asp1220His) c.3604G>C (p.Asp1202His) c.3004G>C (p.Asp1002His) c.3952G>C (p.Asp1318His) c.3949G>C (p.Asp1317His) c.3868G>C (p.Asp1290His) c.3799G>C (p.Asp1267His) c.3667G>C (p.Asp1223His) c.3535G>C (p.Asp1179His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436400G= | CA2360293683 | ASXL1 | c.3688G= (p.Asp1230=) c.3505G= (p.Asp1169=) n.6041G= c.1869+1819G= (n.1869+1819G=) c.3673G= (p.Asp1225=) c.3685G= (p.Asp1229=) c.3658G= (p.Asp1220=) c.3604G= (p.Asp1202=) c.3004G= (p.Asp1002=) c.3952G= (p.Asp1318=) c.3949G= (p.Asp1317=) c.3868G= (p.Asp1290=) c.3799G= (p.Asp1267=) c.3667G= (p.Asp1223=) c.3535G= (p.Asp1179=) | |
20 | g.32436400G>T | CA9808879 | ASXL1 | c.3688G>T (p.Asp1230Tyr) c.3505G>T (p.Asp1169Tyr) n.6041G>T c.1869+1819G>T (n.1869+1819G>T) c.3673G>T (p.Asp1225Tyr) c.3685G>T (p.Asp1229Tyr) c.3658G>T (p.Asp1220Tyr) c.3604G>T (p.Asp1202Tyr) c.3004G>T (p.Asp1002Tyr) c.3952G>T (p.Asp1318Tyr) c.3949G>T (p.Asp1317Tyr) c.3868G>T (p.Asp1290Tyr) c.3799G>T (p.Asp1267Tyr) c.3667G>T (p.Asp1223Tyr) c.3535G>T (p.Asp1179Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436401A>C | CA408563585 | ASXL1 | c.3689A>C (p.Asp1230Ala) c.3506A>C (p.Asp1169Ala) n.6042A>C c.1869+1820A>C (n.1869+1820A>C) c.3674A>C (p.Asp1225Ala) c.3686A>C (p.Asp1229Ala) c.3659A>C (p.Asp1220Ala) c.3605A>C (p.Asp1202Ala) c.3005A>C (p.Asp1002Ala) c.3953A>C (p.Asp1318Ala) c.3950A>C (p.Asp1317Ala) c.3869A>C (p.Asp1290Ala) c.3800A>C (p.Asp1267Ala) c.3668A>C (p.Asp1223Ala) c.3536A>C (p.Asp1179Ala) | |
20 | g.32436401A>G | CA408563586 | ASXL1 | c.3689A>G (p.Asp1230Gly) c.3506A>G (p.Asp1169Gly) n.6042A>G c.1869+1820A>G (n.1869+1820A>G) c.3674A>G (p.Asp1225Gly) c.3686A>G (p.Asp1229Gly) c.3659A>G (p.Asp1220Gly) c.3605A>G (p.Asp1202Gly) c.3005A>G (p.Asp1002Gly) c.3953A>G (p.Asp1318Gly) c.3950A>G (p.Asp1317Gly) c.3869A>G (p.Asp1290Gly) c.3800A>G (p.Asp1267Gly) c.3668A>G (p.Asp1223Gly) c.3536A>G (p.Asp1179Gly) | |
20 | g.32436401A>T | CA408563587 | ASXL1 | c.3689A>T (p.Asp1230Val) c.3506A>T (p.Asp1169Val) n.6042A>T c.1869+1820A>T (n.1869+1820A>T) c.3674A>T (p.Asp1225Val) c.3686A>T (p.Asp1229Val) c.3659A>T (p.Asp1220Val) c.3605A>T (p.Asp1202Val) c.3005A>T (p.Asp1002Val) c.3953A>T (p.Asp1318Val) c.3950A>T (p.Asp1317Val) c.3869A>T (p.Asp1290Val) c.3800A>T (p.Asp1267Val) c.3668A>T (p.Asp1223Val) c.3536A>T (p.Asp1179Val) | |
20 | g.32436402T>A | CA408563588 | ASXL1 | c.3690T>A (p.Asp1230Glu) c.3507T>A (p.Asp1169Glu) n.6043T>A c.1869+1821T>A (n.1869+1821T>A) c.3675T>A (p.Asp1225Glu) c.3687T>A (p.Asp1229Glu) c.3660T>A (p.Asp1220Glu) c.3606T>A (p.Asp1202Glu) c.3006T>A (p.Asp1002Glu) c.3954T>A (p.Asp1318Glu) c.3951T>A (p.Asp1317Glu) c.3870T>A (p.Asp1290Glu) c.3801T>A (p.Asp1267Glu) c.3669T>A (p.Asp1223Glu) c.3537T>A (p.Asp1179Glu) | |
20 | g.32436402T>C | CA510467558 | ASXL1 | c.3690T>C (p.Asp1230=) c.3507T>C (p.Asp1169=) n.6043T>C c.1869+1821T>C (n.1869+1821T>C) c.3675T>C (p.Asp1225=) c.3687T>C (p.Asp1229=) c.3660T>C (p.Asp1220=) c.3606T>C (p.Asp1202=) c.3006T>C (p.Asp1002=) c.3954T>C (p.Asp1318=) c.3951T>C (p.Asp1317=) c.3870T>C (p.Asp1290=) c.3801T>C (p.Asp1267=) c.3669T>C (p.Asp1223=) c.3537T>C (p.Asp1179=) | |
20 | g.32436402T>G | CA408563589 | ASXL1 | c.3690T>G (p.Asp1230Glu) c.3507T>G (p.Asp1169Glu) n.6043T>G c.1869+1821T>G (n.1869+1821T>G) c.3675T>G (p.Asp1225Glu) c.3687T>G (p.Asp1229Glu) c.3660T>G (p.Asp1220Glu) c.3606T>G (p.Asp1202Glu) c.3006T>G (p.Asp1002Glu) c.3954T>G (p.Asp1318Glu) c.3951T>G (p.Asp1317Glu) c.3870T>G (p.Asp1290Glu) c.3801T>G (p.Asp1267Glu) c.3669T>G (p.Asp1223Glu) c.3537T>G (p.Asp1179Glu) | |
20 | g.32436403T>A | CA408563590 | ASXL1 | c.3691T>A (p.Ser1231Thr) c.3508T>A (p.Ser1170Thr) n.6044T>A c.1869+1822T>A (n.1869+1822T>A) c.3676T>A (p.Ser1226Thr) c.3688T>A (p.Ser1230Thr) c.3661T>A (p.Ser1221Thr) c.3607T>A (p.Ser1203Thr) c.3007T>A (p.Ser1003Thr) c.3955T>A (p.Ser1319Thr) c.3952T>A (p.Ser1318Thr) c.3871T>A (p.Ser1291Thr) c.3802T>A (p.Ser1268Thr) c.3670T>A (p.Ser1224Thr) c.3538T>A (p.Ser1180Thr) | |
20 | g.32436403T>C | CA408563591 | ASXL1 | c.3691T>C (p.Ser1231Pro) c.3508T>C (p.Ser1170Pro) n.6044T>C c.1869+1822T>C (n.1869+1822T>C) c.3676T>C (p.Ser1226Pro) c.3688T>C (p.Ser1230Pro) c.3661T>C (p.Ser1221Pro) c.3607T>C (p.Ser1203Pro) c.3007T>C (p.Ser1003Pro) c.3955T>C (p.Ser1319Pro) c.3952T>C (p.Ser1318Pro) c.3871T>C (p.Ser1291Pro) c.3802T>C (p.Ser1268Pro) c.3670T>C (p.Ser1224Pro) c.3538T>C (p.Ser1180Pro) | |
20 | g.32436403T>G | CA408563592 | ASXL1 | c.3691T>G (p.Ser1231Ala) c.3508T>G (p.Ser1170Ala) n.6044T>G c.1869+1822T>G (n.1869+1822T>G) c.3676T>G (p.Ser1226Ala) c.3688T>G (p.Ser1230Ala) c.3661T>G (p.Ser1221Ala) c.3607T>G (p.Ser1203Ala) c.3007T>G (p.Ser1003Ala) c.3955T>G (p.Ser1319Ala) c.3952T>G (p.Ser1318Ala) c.3871T>G (p.Ser1291Ala) c.3802T>G (p.Ser1268Ala) c.3670T>G (p.Ser1224Ala) c.3538T>G (p.Ser1180Ala) | |
20 | g.32436404C>A | CA408563594 | ASXL1 | c.3692C>A (p.Ser1231Tyr) c.3509C>A (p.Ser1170Tyr) n.6045C>A c.1869+1823C>A (n.1869+1823C>A) c.3677C>A (p.Ser1226Tyr) c.3689C>A (p.Ser1230Tyr) c.3662C>A (p.Ser1221Tyr) c.3608C>A (p.Ser1203Tyr) c.3008C>A (p.Ser1003Tyr) c.3956C>A (p.Ser1319Tyr) c.3953C>A (p.Ser1318Tyr) c.3872C>A (p.Ser1291Tyr) c.3803C>A (p.Ser1268Tyr) c.3671C>A (p.Ser1224Tyr) c.3539C>A (p.Ser1180Tyr) | dbSNP |
20 | g.32436404C= | CA2360293684 | ASXL1 | c.3692C= (p.Ser1231=) c.3509C= (p.Ser1170=) n.6045C= c.1869+1823C= (n.1869+1823C=) c.3677C= (p.Ser1226=) c.3689C= (p.Ser1230=) c.3662C= (p.Ser1221=) c.3608C= (p.Ser1203=) c.3008C= (p.Ser1003=) c.3956C= (p.Ser1319=) c.3953C= (p.Ser1318=) c.3872C= (p.Ser1291=) c.3803C= (p.Ser1268=) c.3671C= (p.Ser1224=) c.3539C= (p.Ser1180=) | |
20 | g.32436404C>G | CA408563593 | ASXL1 | c.3692C>G (p.Ser1231Cys) c.3509C>G (p.Ser1170Cys) n.6045C>G c.1869+1823C>G (n.1869+1823C>G) c.3677C>G (p.Ser1226Cys) c.3689C>G (p.Ser1230Cys) c.3662C>G (p.Ser1221Cys) c.3608C>G (p.Ser1203Cys) c.3008C>G (p.Ser1003Cys) c.3956C>G (p.Ser1319Cys) c.3953C>G (p.Ser1318Cys) c.3872C>G (p.Ser1291Cys) c.3803C>G (p.Ser1268Cys) c.3671C>G (p.Ser1224Cys) c.3539C>G (p.Ser1180Cys) | |
20 | g.32436404C>T | CA157011 | ASXL1 | c.3692C>T (p.Ser1231Phe) c.3509C>T (p.Ser1170Phe) n.6045C>T c.1869+1823C>T (n.1869+1823C>T) c.3677C>T (p.Ser1226Phe) c.3689C>T (p.Ser1230Phe) c.3662C>T (p.Ser1221Phe) c.3608C>T (p.Ser1203Phe) c.3008C>T (p.Ser1003Phe) c.3956C>T (p.Ser1319Phe) c.3953C>T (p.Ser1318Phe) c.3872C>T (p.Ser1291Phe) c.3803C>T (p.Ser1268Phe) c.3671C>T (p.Ser1224Phe) c.3539C>T (p.Ser1180Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436405C>A | CA510467562 | ASXL1 | c.3693C>A (p.Ser1231=) c.3510C>A (p.Ser1170=) n.6046C>A c.1869+1824C>A (n.1869+1824C>A) c.3678C>A (p.Ser1226=) c.3690C>A (p.Ser1230=) c.3663C>A (p.Ser1221=) c.3609C>A (p.Ser1203=) c.3009C>A (p.Ser1003=) c.3957C>A (p.Ser1319=) c.3954C>A (p.Ser1318=) c.3873C>A (p.Ser1291=) c.3804C>A (p.Ser1268=) c.3672C>A (p.Ser1224=) c.3540C>A (p.Ser1180=) | |
20 | g.32436405C>G | CA510467563 | ASXL1 | c.3693C>G (p.Ser1231=) c.3510C>G (p.Ser1170=) n.6046C>G c.1869+1824C>G (n.1869+1824C>G) c.3678C>G (p.Ser1226=) c.3690C>G (p.Ser1230=) c.3663C>G (p.Ser1221=) c.3609C>G (p.Ser1203=) c.3009C>G (p.Ser1003=) c.3957C>G (p.Ser1319=) c.3954C>G (p.Ser1318=) c.3873C>G (p.Ser1291=) c.3804C>G (p.Ser1268=) c.3672C>G (p.Ser1224=) c.3540C>G (p.Ser1180=) | |
20 | g.32436405C>T | CA510467564 | ASXL1 | c.3693C>T (p.Ser1231=) c.3510C>T (p.Ser1170=) n.6046C>T c.1869+1824C>T (n.1869+1824C>T) c.3678C>T (p.Ser1226=) c.3690C>T (p.Ser1230=) c.3663C>T (p.Ser1221=) c.3609C>T (p.Ser1203=) c.3009C>T (p.Ser1003=) c.3957C>T (p.Ser1319=) c.3954C>T (p.Ser1318=) c.3873C>T (p.Ser1291=) c.3804C>T (p.Ser1268=) c.3672C>T (p.Ser1224=) c.3540C>T (p.Ser1180=) | |
20 | g.32436406A= | CA2360293685 | ASXL1 | c.3694A= (p.Lys1232=) c.3511A= (p.Lys1171=) n.6047A= c.1869+1825A= (n.1869+1825A=) c.3679A= (p.Lys1227=) c.3691A= (p.Lys1231=) c.3664A= (p.Lys1222=) c.3610A= (p.Lys1204=) c.3010A= (p.Lys1004=) c.3958A= (p.Lys1320=) c.3955A= (p.Lys1319=) c.3874A= (p.Lys1292=) c.3805A= (p.Lys1269=) c.3673A= (p.Lys1225=) c.3541A= (p.Lys1181=) | |
20 | g.32436406A>C | CA408563595 | ASXL1 | c.3694A>C (p.Lys1232Gln) c.3511A>C (p.Lys1171Gln) n.6047A>C c.1869+1825A>C (n.1869+1825A>C) c.3679A>C (p.Lys1227Gln) c.3691A>C (p.Lys1231Gln) c.3664A>C (p.Lys1222Gln) c.3610A>C (p.Lys1204Gln) c.3010A>C (p.Lys1004Gln) c.3958A>C (p.Lys1320Gln) c.3955A>C (p.Lys1319Gln) c.3874A>C (p.Lys1292Gln) c.3805A>C (p.Lys1269Gln) c.3673A>C (p.Lys1225Gln) c.3541A>C (p.Lys1181Gln) | dbSNP |
20 | g.32436406A>G | CA408563596 | ASXL1 | c.3694A>G (p.Lys1232Glu) c.3511A>G (p.Lys1171Glu) n.6047A>G c.1869+1825A>G (n.1869+1825A>G) c.3679A>G (p.Lys1227Glu) c.3691A>G (p.Lys1231Glu) c.3664A>G (p.Lys1222Glu) c.3610A>G (p.Lys1204Glu) c.3010A>G (p.Lys1004Glu) c.3958A>G (p.Lys1320Glu) c.3955A>G (p.Lys1319Glu) c.3874A>G (p.Lys1292Glu) c.3805A>G (p.Lys1269Glu) c.3673A>G (p.Lys1225Glu) c.3541A>G (p.Lys1181Glu) | |
20 | g.32436406A>T | CA408563597 | ASXL1 | c.3694A>T (p.Lys1232Ter) c.3511A>T (p.Lys1171Ter) n.6047A>T c.1869+1825A>T (n.1869+1825A>T) c.3679A>T (p.Lys1227Ter) c.3691A>T (p.Lys1231Ter) c.3664A>T (p.Lys1222Ter) c.3610A>T (p.Lys1204Ter) c.3010A>T (p.Lys1004Ter) c.3958A>T (p.Lys1320Ter) c.3955A>T (p.Lys1319Ter) c.3874A>T (p.Lys1292Ter) c.3805A>T (p.Lys1269Ter) c.3673A>T (p.Lys1225Ter) c.3541A>T (p.Lys1181Ter) | |
20 | g.32436408del | CA2842273174 | ASXL1 | c.3696del (p.Glu1233SerfsTer?) c.3513del (p.Glu1172SerfsTer?) n.6049del c.1869+1827del (n.1869+1827del) c.3681del (p.Glu1228SerfsTer?) c.3693del (p.Glu1232SerfsTer?) c.3666del (p.Glu1223SerfsTer?) c.3612del (p.Glu1205SerfsTer?) c.3012del (p.Glu1005SerfsTer?) c.3960del (p.Glu1321SerfsTer?) c.3957del (p.Glu1320SerfsTer?) c.3876del (p.Glu1293SerfsTer?) c.3807del (p.Glu1270SerfsTer?) c.3675del (p.Glu1226SerfsTer?) c.3543del (p.Glu1182SerfsTer?) | |
20 | g.32436407A>C | CA408563598 | ASXL1 | c.3695A>C (p.Lys1232Thr) c.3512A>C (p.Lys1171Thr) n.6048A>C c.1869+1826A>C (n.1869+1826A>C) c.3680A>C (p.Lys1227Thr) c.3692A>C (p.Lys1231Thr) c.3665A>C (p.Lys1222Thr) c.3611A>C (p.Lys1204Thr) c.3011A>C (p.Lys1004Thr) c.3959A>C (p.Lys1320Thr) c.3956A>C (p.Lys1319Thr) c.3875A>C (p.Lys1292Thr) c.3806A>C (p.Lys1269Thr) c.3674A>C (p.Lys1225Thr) c.3542A>C (p.Lys1181Thr) | |
20 | g.32436407A>G | CA408563599 | ASXL1 | c.3695A>G (p.Lys1232Arg) c.3512A>G (p.Lys1171Arg) n.6048A>G c.1869+1826A>G (n.1869+1826A>G) c.3680A>G (p.Lys1227Arg) c.3692A>G (p.Lys1231Arg) c.3665A>G (p.Lys1222Arg) c.3611A>G (p.Lys1204Arg) c.3011A>G (p.Lys1004Arg) c.3959A>G (p.Lys1320Arg) c.3956A>G (p.Lys1319Arg) c.3875A>G (p.Lys1292Arg) c.3806A>G (p.Lys1269Arg) c.3674A>G (p.Lys1225Arg) c.3542A>G (p.Lys1181Arg) | |
20 | g.32436407A>T | CA408563600 | ASXL1 | c.3695A>T (p.Lys1232Ile) c.3512A>T (p.Lys1171Ile) n.6048A>T c.1869+1826A>T (n.1869+1826A>T) c.3680A>T (p.Lys1227Ile) c.3692A>T (p.Lys1231Ile) c.3665A>T (p.Lys1222Ile) c.3611A>T (p.Lys1204Ile) c.3011A>T (p.Lys1004Ile) c.3959A>T (p.Lys1320Ile) c.3956A>T (p.Lys1319Ile) c.3875A>T (p.Lys1292Ile) c.3806A>T (p.Lys1269Ile) c.3674A>T (p.Lys1225Ile) c.3542A>T (p.Lys1181Ile) | |
20 | g.32436408A>C | CA408563602 | ASXL1 | c.3696A>C (p.Lys1232Asn) c.3513A>C (p.Lys1171Asn) n.6049A>C c.1869+1827A>C (n.1869+1827A>C) c.3681A>C (p.Lys1227Asn) c.3693A>C (p.Lys1231Asn) c.3666A>C (p.Lys1222Asn) c.3612A>C (p.Lys1204Asn) c.3012A>C (p.Lys1004Asn) c.3960A>C (p.Lys1320Asn) c.3957A>C (p.Lys1319Asn) c.3876A>C (p.Lys1292Asn) c.3807A>C (p.Lys1269Asn) c.3675A>C (p.Lys1225Asn) c.3543A>C (p.Lys1181Asn) | |
20 | g.32436408A>G | CA510467566 | ASXL1 | c.3696A>G (p.Lys1232=) c.3513A>G (p.Lys1171=) n.6049A>G c.1869+1827A>G (n.1869+1827A>G) c.3681A>G (p.Lys1227=) c.3693A>G (p.Lys1231=) c.3666A>G (p.Lys1222=) c.3612A>G (p.Lys1204=) c.3012A>G (p.Lys1004=) c.3960A>G (p.Lys1320=) c.3957A>G (p.Lys1319=) c.3876A>G (p.Lys1292=) c.3807A>G (p.Lys1269=) c.3675A>G (p.Lys1225=) c.3543A>G (p.Lys1181=) | |
20 | g.32436408A>T | CA408563601 | ASXL1 | c.3696A>T (p.Lys1232Asn) c.3513A>T (p.Lys1171Asn) n.6049A>T c.1869+1827A>T (n.1869+1827A>T) c.3681A>T (p.Lys1227Asn) c.3693A>T (p.Lys1231Asn) c.3666A>T (p.Lys1222Asn) c.3612A>T (p.Lys1204Asn) c.3012A>T (p.Lys1004Asn) c.3960A>T (p.Lys1320Asn) c.3957A>T (p.Lys1319Asn) c.3876A>T (p.Lys1292Asn) c.3807A>T (p.Lys1269Asn) c.3675A>T (p.Lys1225Asn) c.3543A>T (p.Lys1181Asn) | COSMIC COSMIC |
20 | g.32436410_32436414del | CA2577366320 | ASXL1 | c.3698_3702del (p.Glu1233ValfsTer5) c.3515_3519del (p.Glu1172ValfsTer5) n.6051_6055del c.1869+1829_1869+1833del (n.1869+1829_1869+1833del) c.3683_3687del (p.Glu1228ValfsTer5) c.3695_3699del (p.Glu1232ValfsTer5) c.3668_3672del (p.Glu1223ValfsTer5) c.3614_3618del (p.Glu1205ValfsTer5) c.3014_3018del (p.Glu1005ValfsTer5) c.3962_3966del (p.Glu1321ValfsTer5) c.3959_3963del (p.Glu1320ValfsTer5) c.3878_3882del (p.Glu1293ValfsTer5) c.3809_3813del (p.Glu1270ValfsTer5) c.3677_3681del (p.Glu1226ValfsTer5) c.3545_3549del (p.Glu1182ValfsTer5) | |
20 | g.32436409G>A | CA408563603 | ASXL1 | c.3697G>A (p.Glu1233Lys) c.3514G>A (p.Glu1172Lys) n.6050G>A c.1869+1828G>A (n.1869+1828G>A) c.3682G>A (p.Glu1228Lys) c.3694G>A (p.Glu1232Lys) c.3667G>A (p.Glu1223Lys) c.3613G>A (p.Glu1205Lys) c.3013G>A (p.Glu1005Lys) c.3961G>A (p.Glu1321Lys) c.3958G>A (p.Glu1320Lys) c.3877G>A (p.Glu1293Lys) c.3808G>A (p.Glu1270Lys) c.3676G>A (p.Glu1226Lys) c.3544G>A (p.Glu1182Lys) | |
20 | g.32436409G>C | CA408563604 | ASXL1 | c.3697G>C (p.Glu1233Gln) c.3514G>C (p.Glu1172Gln) n.6050G>C c.1869+1828G>C (n.1869+1828G>C) c.3682G>C (p.Glu1228Gln) c.3694G>C (p.Glu1232Gln) c.3667G>C (p.Glu1223Gln) c.3613G>C (p.Glu1205Gln) c.3013G>C (p.Glu1005Gln) c.3961G>C (p.Glu1321Gln) c.3958G>C (p.Glu1320Gln) c.3877G>C (p.Glu1293Gln) c.3808G>C (p.Glu1270Gln) c.3676G>C (p.Glu1226Gln) c.3544G>C (p.Glu1182Gln) | |
20 | g.32436409G>T | CA408563605 | ASXL1 | c.3697G>T (p.Glu1233Ter) c.3514G>T (p.Glu1172Ter) n.6050G>T c.1869+1828G>T (n.1869+1828G>T) c.3682G>T (p.Glu1228Ter) c.3694G>T (p.Glu1232Ter) c.3667G>T (p.Glu1223Ter) c.3613G>T (p.Glu1205Ter) c.3013G>T (p.Glu1005Ter) c.3961G>T (p.Glu1321Ter) c.3958G>T (p.Glu1320Ter) c.3877G>T (p.Glu1293Ter) c.3808G>T (p.Glu1270Ter) c.3676G>T (p.Glu1226Ter) c.3544G>T (p.Glu1182Ter) | |
20 | g.32436410A= | CA2360293686 | ASXL1 | c.3698A= (p.Glu1233=) c.3515A= (p.Glu1172=) n.6051A= c.1869+1829A= (n.1869+1829A=) c.3683A= (p.Glu1228=) c.3695A= (p.Glu1232=) c.3668A= (p.Glu1223=) c.3614A= (p.Glu1205=) c.3014A= (p.Glu1005=) c.3962A= (p.Glu1321=) c.3959A= (p.Glu1320=) c.3878A= (p.Glu1293=) c.3809A= (p.Glu1270=) c.3677A= (p.Glu1226=) c.3545A= (p.Glu1182=) | |
20 | g.32436410A>C | CA408563606 | ASXL1 | c.3698A>C (p.Glu1233Ala) c.3515A>C (p.Glu1172Ala) n.6051A>C c.1869+1829A>C (n.1869+1829A>C) c.3683A>C (p.Glu1228Ala) c.3695A>C (p.Glu1232Ala) c.3668A>C (p.Glu1223Ala) c.3614A>C (p.Glu1205Ala) c.3014A>C (p.Glu1005Ala) c.3962A>C (p.Glu1321Ala) c.3959A>C (p.Glu1320Ala) c.3878A>C (p.Glu1293Ala) c.3809A>C (p.Glu1270Ala) c.3677A>C (p.Glu1226Ala) c.3545A>C (p.Glu1182Ala) | |
20 | g.32436410A>G | CA408563607 | ASXL1 | c.3698A>G (p.Glu1233Gly) c.3515A>G (p.Glu1172Gly) n.6051A>G c.1869+1829A>G (n.1869+1829A>G) c.3683A>G (p.Glu1228Gly) c.3695A>G (p.Glu1232Gly) c.3668A>G (p.Glu1223Gly) c.3614A>G (p.Glu1205Gly) c.3014A>G (p.Glu1005Gly) c.3962A>G (p.Glu1321Gly) c.3959A>G (p.Glu1320Gly) c.3878A>G (p.Glu1293Gly) c.3809A>G (p.Glu1270Gly) c.3677A>G (p.Glu1226Gly) c.3545A>G (p.Glu1182Gly) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436410A>T | CA408563608 | ASXL1 | c.3698A>T (p.Glu1233Val) c.3515A>T (p.Glu1172Val) n.6051A>T c.1869+1829A>T (n.1869+1829A>T) c.3683A>T (p.Glu1228Val) c.3695A>T (p.Glu1232Val) c.3668A>T (p.Glu1223Val) c.3614A>T (p.Glu1205Val) c.3014A>T (p.Glu1005Val) c.3962A>T (p.Glu1321Val) c.3959A>T (p.Glu1320Val) c.3878A>T (p.Glu1293Val) c.3809A>T (p.Glu1270Val) c.3677A>T (p.Glu1226Val) c.3545A>T (p.Glu1182Val) | |
20 | g.32436411G>A | CA9808881 | ASXL1 | c.3699G>A (p.Glu1233=) c.3516G>A (p.Glu1172=) n.6052G>A c.1869+1830G>A (n.1869+1830G>A) c.3684G>A (p.Glu1228=) c.3696G>A (p.Glu1232=) c.3669G>A (p.Glu1223=) c.3615G>A (p.Glu1205=) c.3015G>A (p.Glu1005=) c.3963G>A (p.Glu1321=) c.3960G>A (p.Glu1320=) c.3879G>A (p.Glu1293=) c.3810G>A (p.Glu1270=) c.3678G>A (p.Glu1226=) c.3546G>A (p.Glu1182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436411G>C | CA408563610 | ASXL1 | c.3699G>C (p.Glu1233Asp) c.3516G>C (p.Glu1172Asp) n.6052G>C c.1869+1830G>C (n.1869+1830G>C) c.3684G>C (p.Glu1228Asp) c.3696G>C (p.Glu1232Asp) c.3669G>C (p.Glu1223Asp) c.3615G>C (p.Glu1205Asp) c.3015G>C (p.Glu1005Asp) c.3963G>C (p.Glu1321Asp) c.3960G>C (p.Glu1320Asp) c.3879G>C (p.Glu1293Asp) c.3810G>C (p.Glu1270Asp) c.3678G>C (p.Glu1226Asp) c.3546G>C (p.Glu1182Asp) | |
20 | g.32436411G= | CA2360293687 | ASXL1 | c.3699G= (p.Glu1233=) c.3516G= (p.Glu1172=) n.6052G= c.1869+1830G= (n.1869+1830G=) c.3684G= (p.Glu1228=) c.3696G= (p.Glu1232=) c.3669G= (p.Glu1223=) c.3615G= (p.Glu1205=) c.3015G= (p.Glu1005=) c.3963G= (p.Glu1321=) c.3960G= (p.Glu1320=) c.3879G= (p.Glu1293=) c.3810G= (p.Glu1270=) c.3678G= (p.Glu1226=) c.3546G= (p.Glu1182=) | |
20 | g.32436411G>T | CA408563609 | ASXL1 | c.3699G>T (p.Glu1233Asp) c.3516G>T (p.Glu1172Asp) n.6052G>T c.1869+1830G>T (n.1869+1830G>T) c.3684G>T (p.Glu1228Asp) c.3696G>T (p.Glu1232Asp) c.3669G>T (p.Glu1223Asp) c.3615G>T (p.Glu1205Asp) c.3015G>T (p.Glu1005Asp) c.3963G>T (p.Glu1321Asp) c.3960G>T (p.Glu1320Asp) c.3879G>T (p.Glu1293Asp) c.3810G>T (p.Glu1270Asp) c.3678G>T (p.Glu1226Asp) c.3546G>T (p.Glu1182Asp) | gnomAD v4 |
20 | g.32436412C>A | CA408563611 | ASXL1 | c.3700C>A (p.Gln1234Lys) c.3517C>A (p.Gln1173Lys) n.6053C>A c.1869+1831C>A (n.1869+1831C>A) c.3685C>A (p.Gln1229Lys) c.3697C>A (p.Gln1233Lys) c.3670C>A (p.Gln1224Lys) c.3616C>A (p.Gln1206Lys) c.3016C>A (p.Gln1006Lys) c.3964C>A (p.Gln1322Lys) c.3961C>A (p.Gln1321Lys) c.3880C>A (p.Gln1294Lys) c.3811C>A (p.Gln1271Lys) c.3679C>A (p.Gln1227Lys) c.3547C>A (p.Gln1183Lys) | dbSNP |
20 | g.32436412C= | CA2360293688 | ASXL1 | c.3700C= (p.Gln1234=) c.3517C= (p.Gln1173=) n.6053C= c.1869+1831C= (n.1869+1831C=) c.3685C= (p.Gln1229=) c.3697C= (p.Gln1233=) c.3670C= (p.Gln1224=) c.3616C= (p.Gln1206=) c.3016C= (p.Gln1006=) c.3964C= (p.Gln1322=) c.3961C= (p.Gln1321=) c.3880C= (p.Gln1294=) c.3811C= (p.Gln1271=) c.3679C= (p.Gln1227=) c.3547C= (p.Gln1183=) | |
20 | g.32436412C>G | CA408563612 | ASXL1 | c.3700C>G (p.Gln1234Glu) c.3517C>G (p.Gln1173Glu) n.6053C>G c.1869+1831C>G (n.1869+1831C>G) c.3685C>G (p.Gln1229Glu) c.3697C>G (p.Gln1233Glu) c.3670C>G (p.Gln1224Glu) c.3616C>G (p.Gln1206Glu) c.3016C>G (p.Gln1006Glu) c.3964C>G (p.Gln1322Glu) c.3961C>G (p.Gln1321Glu) c.3880C>G (p.Gln1294Glu) c.3811C>G (p.Gln1271Glu) c.3679C>G (p.Gln1227Glu) c.3547C>G (p.Gln1183Glu) | |
20 | g.32436412C>T | CA408563613 | ASXL1 | c.3700C>T (p.Gln1234Ter) c.3517C>T (p.Gln1173Ter) n.6053C>T c.1869+1831C>T (n.1869+1831C>T) c.3685C>T (p.Gln1229Ter) c.3697C>T (p.Gln1233Ter) c.3670C>T (p.Gln1224Ter) c.3616C>T (p.Gln1206Ter) c.3016C>T (p.Gln1006Ter) c.3964C>T (p.Gln1322Ter) c.3961C>T (p.Gln1321Ter) c.3880C>T (p.Gln1294Ter) c.3811C>T (p.Gln1271Ter) c.3679C>T (p.Gln1227Ter) c.3547C>T (p.Gln1183Ter) | ClinVar dbSNP |
20 | g.32436413A>C | CA408563614 | ASXL1 | c.3701A>C (p.Gln1234Pro) c.3518A>C (p.Gln1173Pro) n.6054A>C c.1869+1832A>C (n.1869+1832A>C) c.3686A>C (p.Gln1229Pro) c.3698A>C (p.Gln1233Pro) c.3671A>C (p.Gln1224Pro) c.3617A>C (p.Gln1206Pro) c.3017A>C (p.Gln1006Pro) c.3965A>C (p.Gln1322Pro) c.3962A>C (p.Gln1321Pro) c.3881A>C (p.Gln1294Pro) c.3812A>C (p.Gln1271Pro) c.3680A>C (p.Gln1227Pro) c.3548A>C (p.Gln1183Pro) | |
20 | g.32436413A>G | CA408563615 | ASXL1 | c.3701A>G (p.Gln1234Arg) c.3518A>G (p.Gln1173Arg) n.6054A>G c.1869+1832A>G (n.1869+1832A>G) c.3686A>G (p.Gln1229Arg) c.3698A>G (p.Gln1233Arg) c.3671A>G (p.Gln1224Arg) c.3617A>G (p.Gln1206Arg) c.3017A>G (p.Gln1006Arg) c.3965A>G (p.Gln1322Arg) c.3962A>G (p.Gln1321Arg) c.3881A>G (p.Gln1294Arg) c.3812A>G (p.Gln1271Arg) c.3680A>G (p.Gln1227Arg) c.3548A>G (p.Gln1183Arg) | gnomAD v4 |
20 | g.32436413A>T | CA408563616 | ASXL1 | c.3701A>T (p.Gln1234Leu) c.3518A>T (p.Gln1173Leu) n.6054A>T c.1869+1832A>T (n.1869+1832A>T) c.3686A>T (p.Gln1229Leu) c.3698A>T (p.Gln1233Leu) c.3671A>T (p.Gln1224Leu) c.3617A>T (p.Gln1206Leu) c.3017A>T (p.Gln1006Leu) c.3965A>T (p.Gln1322Leu) c.3962A>T (p.Gln1321Leu) c.3881A>T (p.Gln1294Leu) c.3812A>T (p.Gln1271Leu) c.3680A>T (p.Gln1227Leu) c.3548A>T (p.Gln1183Leu) | |
20 | g.32436414G>A | CA510467571 | ASXL1 | c.3702G>A (p.Gln1234=) c.3519G>A (p.Gln1173=) n.6055G>A c.1869+1833G>A (n.1869+1833G>A) c.3687G>A (p.Gln1229=) c.3699G>A (p.Gln1233=) c.3672G>A (p.Gln1224=) c.3618G>A (p.Gln1206=) c.3018G>A (p.Gln1006=) c.3966G>A (p.Gln1322=) c.3963G>A (p.Gln1321=) c.3882G>A (p.Gln1294=) c.3813G>A (p.Gln1271=) c.3681G>A (p.Gln1227=) c.3549G>A (p.Gln1183=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436414G>C | CA408563617 | ASXL1 | c.3702G>C (p.Gln1234His) c.3519G>C (p.Gln1173His) n.6055G>C c.1869+1833G>C (n.1869+1833G>C) c.3687G>C (p.Gln1229His) c.3699G>C (p.Gln1233His) c.3672G>C (p.Gln1224His) c.3618G>C (p.Gln1206His) c.3018G>C (p.Gln1006His) c.3966G>C (p.Gln1322His) c.3963G>C (p.Gln1321His) c.3882G>C (p.Gln1294His) c.3813G>C (p.Gln1271His) c.3681G>C (p.Gln1227His) c.3549G>C (p.Gln1183His) | |
20 | g.32436414G= | CA2360293689 | ASXL1 | c.3702G= (p.Gln1234=) c.3519G= (p.Gln1173=) n.6055G= c.1869+1833G= (n.1869+1833G=) c.3687G= (p.Gln1229=) c.3699G= (p.Gln1233=) c.3672G= (p.Gln1224=) c.3618G= (p.Gln1206=) c.3018G= (p.Gln1006=) c.3966G= (p.Gln1322=) c.3963G= (p.Gln1321=) c.3882G= (p.Gln1294=) c.3813G= (p.Gln1271=) c.3681G= (p.Gln1227=) c.3549G= (p.Gln1183=) | |
20 | g.32436414G>T | CA408563618 | ASXL1 | c.3702G>T (p.Gln1234His) c.3519G>T (p.Gln1173His) n.6055G>T c.1869+1833G>T (n.1869+1833G>T) c.3687G>T (p.Gln1229His) c.3699G>T (p.Gln1233His) c.3672G>T (p.Gln1224His) c.3618G>T (p.Gln1206His) c.3018G>T (p.Gln1006His) c.3966G>T (p.Gln1322His) c.3963G>T (p.Gln1321His) c.3882G>T (p.Gln1294His) c.3813G>T (p.Gln1271His) c.3681G>T (p.Gln1227His) c.3549G>T (p.Gln1183His) | |
20 | g.32436415T>A | CA408563619 | ASXL1 | c.3703T>A (p.Phe1235Ile) c.3520T>A (p.Phe1174Ile) n.6056T>A c.1869+1834T>A (n.1869+1834T>A) c.3688T>A (p.Phe1230Ile) c.3700T>A (p.Phe1234Ile) c.3673T>A (p.Phe1225Ile) c.3619T>A (p.Phe1207Ile) c.3019T>A (p.Phe1007Ile) c.3967T>A (p.Phe1323Ile) c.3964T>A (p.Phe1322Ile) c.3883T>A (p.Phe1295Ile) c.3814T>A (p.Phe1272Ile) c.3682T>A (p.Phe1228Ile) c.3550T>A (p.Phe1184Ile) | |
20 | g.32436415T>C | CA408563620 | ASXL1 | c.3703T>C (p.Phe1235Leu) c.3520T>C (p.Phe1174Leu) n.6056T>C c.1869+1834T>C (n.1869+1834T>C) c.3688T>C (p.Phe1230Leu) c.3700T>C (p.Phe1234Leu) c.3673T>C (p.Phe1225Leu) c.3619T>C (p.Phe1207Leu) c.3019T>C (p.Phe1007Leu) c.3967T>C (p.Phe1323Leu) c.3964T>C (p.Phe1322Leu) c.3883T>C (p.Phe1295Leu) c.3814T>C (p.Phe1272Leu) c.3682T>C (p.Phe1228Leu) c.3550T>C (p.Phe1184Leu) | |
20 | g.32436415T>G | CA408563621 | ASXL1 | c.3703T>G (p.Phe1235Val) c.3520T>G (p.Phe1174Val) n.6056T>G c.1869+1834T>G (n.1869+1834T>G) c.3688T>G (p.Phe1230Val) c.3700T>G (p.Phe1234Val) c.3673T>G (p.Phe1225Val) c.3619T>G (p.Phe1207Val) c.3019T>G (p.Phe1007Val) c.3967T>G (p.Phe1323Val) c.3964T>G (p.Phe1322Val) c.3883T>G (p.Phe1295Val) c.3814T>G (p.Phe1272Val) c.3682T>G (p.Phe1228Val) c.3550T>G (p.Phe1184Val) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436415T= | CA2360293690 | ASXL1 | c.3703T= (p.Phe1235=) c.3520T= (p.Phe1174=) n.6056T= c.1869+1834T= (n.1869+1834T=) c.3688T= (p.Phe1230=) c.3700T= (p.Phe1234=) c.3673T= (p.Phe1225=) c.3619T= (p.Phe1207=) c.3019T= (p.Phe1007=) c.3967T= (p.Phe1323=) c.3964T= (p.Phe1322=) c.3883T= (p.Phe1295=) c.3814T= (p.Phe1272=) c.3682T= (p.Phe1228=) c.3550T= (p.Phe1184=) | |
20 | g.32436416T>A | CA408563623 | ASXL1 | c.3704T>A (p.Phe1235Tyr) c.3521T>A (p.Phe1174Tyr) n.6057T>A c.1869+1835T>A (n.1869+1835T>A) c.3689T>A (p.Phe1230Tyr) c.3701T>A (p.Phe1234Tyr) c.3674T>A (p.Phe1225Tyr) c.3620T>A (p.Phe1207Tyr) c.3020T>A (p.Phe1007Tyr) c.3968T>A (p.Phe1323Tyr) c.3965T>A (p.Phe1322Tyr) c.3884T>A (p.Phe1295Tyr) c.3815T>A (p.Phe1272Tyr) c.3683T>A (p.Phe1228Tyr) c.3551T>A (p.Phe1184Tyr) | |
20 | g.32436416T>C | CA408563624 | ASXL1 | c.3704T>C (p.Phe1235Ser) c.3521T>C (p.Phe1174Ser) n.6057T>C c.1869+1835T>C (n.1869+1835T>C) c.3689T>C (p.Phe1230Ser) c.3701T>C (p.Phe1234Ser) c.3674T>C (p.Phe1225Ser) c.3620T>C (p.Phe1207Ser) c.3020T>C (p.Phe1007Ser) c.3968T>C (p.Phe1323Ser) c.3965T>C (p.Phe1322Ser) c.3884T>C (p.Phe1295Ser) c.3815T>C (p.Phe1272Ser) c.3683T>C (p.Phe1228Ser) c.3551T>C (p.Phe1184Ser) | |
20 | g.32436416T>G | CA408563622 | ASXL1 | c.3704T>G (p.Phe1235Cys) c.3521T>G (p.Phe1174Cys) n.6057T>G c.1869+1835T>G (n.1869+1835T>G) c.3689T>G (p.Phe1230Cys) c.3701T>G (p.Phe1234Cys) c.3674T>G (p.Phe1225Cys) c.3620T>G (p.Phe1207Cys) c.3020T>G (p.Phe1007Cys) c.3968T>G (p.Phe1323Cys) c.3965T>G (p.Phe1322Cys) c.3884T>G (p.Phe1295Cys) c.3815T>G (p.Phe1272Cys) c.3683T>G (p.Phe1228Cys) c.3551T>G (p.Phe1184Cys) | |
20 | g.32436417C>A | CA408563626 | ASXL1 | c.3705C>A (p.Phe1235Leu) c.3522C>A (p.Phe1174Leu) n.6058C>A c.1869+1836C>A (n.1869+1836C>A) c.3690C>A (p.Phe1230Leu) c.3702C>A (p.Phe1234Leu) c.3675C>A (p.Phe1225Leu) c.3621C>A (p.Phe1207Leu) c.3021C>A (p.Phe1007Leu) c.3969C>A (p.Phe1323Leu) c.3966C>A (p.Phe1322Leu) c.3885C>A (p.Phe1295Leu) c.3816C>A (p.Phe1272Leu) c.3684C>A (p.Phe1228Leu) c.3552C>A (p.Phe1184Leu) | |
20 | g.32436417C>G | CA408563625 | ASXL1 | c.3705C>G (p.Phe1235Leu) c.3522C>G (p.Phe1174Leu) n.6058C>G c.1869+1836C>G (n.1869+1836C>G) c.3690C>G (p.Phe1230Leu) c.3702C>G (p.Phe1234Leu) c.3675C>G (p.Phe1225Leu) c.3621C>G (p.Phe1207Leu) c.3021C>G (p.Phe1007Leu) c.3969C>G (p.Phe1323Leu) c.3966C>G (p.Phe1322Leu) c.3885C>G (p.Phe1295Leu) c.3816C>G (p.Phe1272Leu) c.3684C>G (p.Phe1228Leu) c.3552C>G (p.Phe1184Leu) | |
20 | g.32436417C>T | CA510467575 | ASXL1 | c.3705C>T (p.Phe1235=) c.3522C>T (p.Phe1174=) n.6058C>T c.1869+1836C>T (n.1869+1836C>T) c.3690C>T (p.Phe1230=) c.3702C>T (p.Phe1234=) c.3675C>T (p.Phe1225=) c.3621C>T (p.Phe1207=) c.3021C>T (p.Phe1007=) c.3969C>T (p.Phe1323=) c.3966C>T (p.Phe1322=) c.3885C>T (p.Phe1295=) c.3816C>T (p.Phe1272=) c.3684C>T (p.Phe1228=) c.3552C>T (p.Phe1184=) | gnomAD v4 |
20 | g.32436418T>A | CA408563628 | ASXL1 | c.3706T>A (p.Ser1236Thr) c.3523T>A (p.Ser1175Thr) n.6059T>A c.1869+1837T>A (n.1869+1837T>A) c.3691T>A (p.Ser1231Thr) c.3703T>A (p.Ser1235Thr) c.3676T>A (p.Ser1226Thr) c.3622T>A (p.Ser1208Thr) c.3022T>A (p.Ser1008Thr) c.3970T>A (p.Ser1324Thr) c.3967T>A (p.Ser1323Thr) c.3886T>A (p.Ser1296Thr) c.3817T>A (p.Ser1273Thr) c.3685T>A (p.Ser1229Thr) c.3553T>A (p.Ser1185Thr) | |
20 | g.32436418T>C | CA408563627 | ASXL1 | c.3706T>C (p.Ser1236Pro) c.3523T>C (p.Ser1175Pro) n.6059T>C c.1869+1837T>C (n.1869+1837T>C) c.3691T>C (p.Ser1231Pro) c.3703T>C (p.Ser1235Pro) c.3676T>C (p.Ser1226Pro) c.3622T>C (p.Ser1208Pro) c.3022T>C (p.Ser1008Pro) c.3970T>C (p.Ser1324Pro) c.3967T>C (p.Ser1323Pro) c.3886T>C (p.Ser1296Pro) c.3817T>C (p.Ser1273Pro) c.3685T>C (p.Ser1229Pro) c.3553T>C (p.Ser1185Pro) | |
20 | g.32436418T>G | CA9808882 | ASXL1 | c.3706T>G (p.Ser1236Ala) c.3523T>G (p.Ser1175Ala) n.6059T>G c.1869+1837T>G (n.1869+1837T>G) c.3691T>G (p.Ser1231Ala) c.3703T>G (p.Ser1235Ala) c.3676T>G (p.Ser1226Ala) c.3622T>G (p.Ser1208Ala) c.3022T>G (p.Ser1008Ala) c.3970T>G (p.Ser1324Ala) c.3967T>G (p.Ser1323Ala) c.3886T>G (p.Ser1296Ala) c.3817T>G (p.Ser1273Ala) c.3685T>G (p.Ser1229Ala) c.3553T>G (p.Ser1185Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436418T= | CA2360293691 | ASXL1 | c.3706T= (p.Ser1236=) c.3523T= (p.Ser1175=) n.6059T= c.1869+1837T= (n.1869+1837T=) c.3691T= (p.Ser1231=) c.3703T= (p.Ser1235=) c.3676T= (p.Ser1226=) c.3622T= (p.Ser1208=) c.3022T= (p.Ser1008=) c.3970T= (p.Ser1324=) c.3967T= (p.Ser1323=) c.3886T= (p.Ser1296=) c.3817T= (p.Ser1273=) c.3685T= (p.Ser1229=) c.3553T= (p.Ser1185=) | |
20 | g.32436419C>A | CA408563629 | ASXL1 | c.3707C>A (p.Ser1236Tyr) c.3524C>A (p.Ser1175Tyr) n.6060C>A c.1869+1838C>A (n.1869+1838C>A) c.3692C>A (p.Ser1231Tyr) c.3704C>A (p.Ser1235Tyr) c.3677C>A (p.Ser1226Tyr) c.3623C>A (p.Ser1208Tyr) c.3023C>A (p.Ser1008Tyr) c.3971C>A (p.Ser1324Tyr) c.3968C>A (p.Ser1323Tyr) c.3887C>A (p.Ser1296Tyr) c.3818C>A (p.Ser1273Tyr) c.3686C>A (p.Ser1229Tyr) c.3554C>A (p.Ser1185Tyr) | |
20 | g.32436419C>G | CA408563630 | ASXL1 | c.3707C>G (p.Ser1236Cys) c.3524C>G (p.Ser1175Cys) n.6060C>G c.1869+1838C>G (n.1869+1838C>G) c.3692C>G (p.Ser1231Cys) c.3704C>G (p.Ser1235Cys) c.3677C>G (p.Ser1226Cys) c.3623C>G (p.Ser1208Cys) c.3023C>G (p.Ser1008Cys) c.3971C>G (p.Ser1324Cys) c.3968C>G (p.Ser1323Cys) c.3887C>G (p.Ser1296Cys) c.3818C>G (p.Ser1273Cys) c.3686C>G (p.Ser1229Cys) c.3554C>G (p.Ser1185Cys) | dbSNP |
20 | g.32436419C>T | CA408563631 | ASXL1 | c.3707C>T (p.Ser1236Phe) c.3524C>T (p.Ser1175Phe) n.6060C>T c.1869+1838C>T (n.1869+1838C>T) c.3692C>T (p.Ser1231Phe) c.3704C>T (p.Ser1235Phe) c.3677C>T (p.Ser1226Phe) c.3623C>T (p.Ser1208Phe) c.3023C>T (p.Ser1008Phe) c.3971C>T (p.Ser1324Phe) c.3968C>T (p.Ser1323Phe) c.3887C>T (p.Ser1296Phe) c.3818C>T (p.Ser1273Phe) c.3686C>T (p.Ser1229Phe) c.3554C>T (p.Ser1185Phe) | dbSNP |
20 | g.32436420T>A | CA510467580 | ASXL1 | c.3708T>A (p.Ser1236=) c.3525T>A (p.Ser1175=) n.6061T>A c.1869+1839T>A (n.1869+1839T>A) c.3693T>A (p.Ser1231=) c.3705T>A (p.Ser1235=) c.3678T>A (p.Ser1226=) c.3624T>A (p.Ser1208=) c.3024T>A (p.Ser1008=) c.3972T>A (p.Ser1324=) c.3969T>A (p.Ser1323=) c.3888T>A (p.Ser1296=) c.3819T>A (p.Ser1273=) c.3687T>A (p.Ser1229=) c.3555T>A (p.Ser1185=) | dbSNP |
20 | g.32436420T>C | CA510467577 | ASXL1 | c.3708T>C (p.Ser1236=) c.3525T>C (p.Ser1175=) n.6061T>C c.1869+1839T>C (n.1869+1839T>C) c.3693T>C (p.Ser1231=) c.3705T>C (p.Ser1235=) c.3678T>C (p.Ser1226=) c.3624T>C (p.Ser1208=) c.3024T>C (p.Ser1008=) c.3972T>C (p.Ser1324=) c.3969T>C (p.Ser1323=) c.3888T>C (p.Ser1296=) c.3819T>C (p.Ser1273=) c.3687T>C (p.Ser1229=) c.3555T>C (p.Ser1185=) | |
20 | g.32436420T>G | CA510467578 | ASXL1 | c.3708T>G (p.Ser1236=) c.3525T>G (p.Ser1175=) n.6061T>G c.1869+1839T>G (n.1869+1839T>G) c.3693T>G (p.Ser1231=) c.3705T>G (p.Ser1235=) c.3678T>G (p.Ser1226=) c.3624T>G (p.Ser1208=) c.3024T>G (p.Ser1008=) c.3972T>G (p.Ser1324=) c.3969T>G (p.Ser1323=) c.3888T>G (p.Ser1296=) c.3819T>G (p.Ser1273=) c.3687T>G (p.Ser1229=) c.3555T>G (p.Ser1185=) | |
20 | g.32436421T>A | CA408563634 | ASXL1 | c.3709T>A (p.Ser1237Thr) c.3526T>A (p.Ser1176Thr) n.6062T>A c.1869+1840T>A (n.1869+1840T>A) c.3694T>A (p.Ser1232Thr) c.3706T>A (p.Ser1236Thr) c.3679T>A (p.Ser1227Thr) c.3625T>A (p.Ser1209Thr) c.3025T>A (p.Ser1009Thr) c.3973T>A (p.Ser1325Thr) c.3970T>A (p.Ser1324Thr) c.3889T>A (p.Ser1297Thr) c.3820T>A (p.Ser1274Thr) c.3688T>A (p.Ser1230Thr) c.3556T>A (p.Ser1186Thr) | |
20 | g.32436421T>C | CA408563633 | ASXL1 | c.3709T>C (p.Ser1237Pro) c.3526T>C (p.Ser1176Pro) n.6062T>C c.1869+1840T>C (n.1869+1840T>C) c.3694T>C (p.Ser1232Pro) c.3706T>C (p.Ser1236Pro) c.3679T>C (p.Ser1227Pro) c.3625T>C (p.Ser1209Pro) c.3025T>C (p.Ser1009Pro) c.3973T>C (p.Ser1325Pro) c.3970T>C (p.Ser1324Pro) c.3889T>C (p.Ser1297Pro) c.3820T>C (p.Ser1274Pro) c.3688T>C (p.Ser1230Pro) c.3556T>C (p.Ser1186Pro) | dbSNP |
20 | g.32436421T>G | CA408563632 | ASXL1 | c.3709T>G (p.Ser1237Ala) c.3526T>G (p.Ser1176Ala) n.6062T>G c.1869+1840T>G (n.1869+1840T>G) c.3694T>G (p.Ser1232Ala) c.3706T>G (p.Ser1236Ala) c.3679T>G (p.Ser1227Ala) c.3625T>G (p.Ser1209Ala) c.3025T>G (p.Ser1009Ala) c.3973T>G (p.Ser1325Ala) c.3970T>G (p.Ser1324Ala) c.3889T>G (p.Ser1297Ala) c.3820T>G (p.Ser1274Ala) c.3688T>G (p.Ser1230Ala) c.3556T>G (p.Ser1186Ala) | |
20 | g.32436421T= | CA2360293692 | ASXL1 | c.3709T= (p.Ser1237=) c.3526T= (p.Ser1176=) n.6062T= c.1869+1840T= (n.1869+1840T=) c.3694T= (p.Ser1232=) c.3706T= (p.Ser1236=) c.3679T= (p.Ser1227=) c.3625T= (p.Ser1209=) c.3025T= (p.Ser1009=) c.3973T= (p.Ser1325=) c.3970T= (p.Ser1324=) c.3889T= (p.Ser1297=) c.3820T= (p.Ser1274=) c.3688T= (p.Ser1230=) c.3556T= (p.Ser1186=) | |
20 | g.32436422C>A | CA408563635 | ASXL1 | c.3710C>A (p.Ser1237Tyr) c.3527C>A (p.Ser1176Tyr) n.6063C>A c.1869+1841C>A (n.1869+1841C>A) c.3695C>A (p.Ser1232Tyr) c.3707C>A (p.Ser1236Tyr) c.3680C>A (p.Ser1227Tyr) c.3626C>A (p.Ser1209Tyr) c.3026C>A (p.Ser1009Tyr) c.3974C>A (p.Ser1325Tyr) c.3971C>A (p.Ser1324Tyr) c.3890C>A (p.Ser1297Tyr) c.3821C>A (p.Ser1274Tyr) c.3689C>A (p.Ser1230Tyr) c.3557C>A (p.Ser1186Tyr) | |
20 | g.32436422C= | CA2360293693 | ASXL1 | c.3710C= (p.Ser1237=) c.3527C= (p.Ser1176=) n.6063C= c.1869+1841C= (n.1869+1841C=) c.3695C= (p.Ser1232=) c.3707C= (p.Ser1236=) c.3680C= (p.Ser1227=) c.3626C= (p.Ser1209=) c.3026C= (p.Ser1009=) c.3974C= (p.Ser1325=) c.3971C= (p.Ser1324=) c.3890C= (p.Ser1297=) c.3821C= (p.Ser1274=) c.3689C= (p.Ser1230=) c.3557C= (p.Ser1186=) | |
20 | g.32436422C>G | CA408563636 | ASXL1 | c.3710C>G (p.Ser1237Cys) c.3527C>G (p.Ser1176Cys) n.6063C>G c.1869+1841C>G (n.1869+1841C>G) c.3695C>G (p.Ser1232Cys) c.3707C>G (p.Ser1236Cys) c.3680C>G (p.Ser1227Cys) c.3626C>G (p.Ser1209Cys) c.3026C>G (p.Ser1009Cys) c.3974C>G (p.Ser1325Cys) c.3971C>G (p.Ser1324Cys) c.3890C>G (p.Ser1297Cys) c.3821C>G (p.Ser1274Cys) c.3689C>G (p.Ser1230Cys) c.3557C>G (p.Ser1186Cys) | |
20 | g.32436422C>T | CA9808883 | ASXL1 | c.3710C>T (p.Ser1237Phe) c.3527C>T (p.Ser1176Phe) n.6063C>T c.1869+1841C>T (n.1869+1841C>T) c.3695C>T (p.Ser1232Phe) c.3707C>T (p.Ser1236Phe) c.3680C>T (p.Ser1227Phe) c.3626C>T (p.Ser1209Phe) c.3026C>T (p.Ser1009Phe) c.3974C>T (p.Ser1325Phe) c.3971C>T (p.Ser1324Phe) c.3890C>T (p.Ser1297Phe) c.3821C>T (p.Ser1274Phe) c.3689C>T (p.Ser1230Phe) c.3557C>T (p.Ser1186Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436423del | CA2652401238 | ASXL1 | c.3711del (p.Phe1238LeufsTer?) c.3528del (p.Phe1177LeufsTer?) n.6064del c.1869+1842del (n.1869+1842del) c.3696del (p.Phe1233LeufsTer?) c.3708del (p.Phe1237LeufsTer?) c.3681del (p.Phe1228LeufsTer?) c.3627del (p.Phe1210LeufsTer?) c.3027del (p.Phe1010LeufsTer?) c.3975del (p.Phe1326LeufsTer?) c.3972del (p.Phe1325LeufsTer?) c.3891del (p.Phe1298LeufsTer?) c.3822del (p.Phe1275LeufsTer?) c.3690del (p.Phe1231LeufsTer?) c.3558del (p.Phe1187LeufsTer?) | gnomAD v4 |
20 | g.32436423C>A | CA510467582 | ASXL1 | c.3711C>A (p.Ser1237=) c.3528C>A (p.Ser1176=) n.6064C>A c.1869+1842C>A (n.1869+1842C>A) c.3696C>A (p.Ser1232=) c.3708C>A (p.Ser1236=) c.3681C>A (p.Ser1227=) c.3627C>A (p.Ser1209=) c.3027C>A (p.Ser1009=) c.3975C>A (p.Ser1325=) c.3972C>A (p.Ser1324=) c.3891C>A (p.Ser1297=) c.3822C>A (p.Ser1274=) c.3690C>A (p.Ser1230=) c.3558C>A (p.Ser1186=) | |
20 | g.32436423C= | CA2360293694 | ASXL1 | c.3711C= (p.Ser1237=) c.3528C= (p.Ser1176=) n.6064C= c.1869+1842C= (n.1869+1842C=) c.3696C= (p.Ser1232=) c.3708C= (p.Ser1236=) c.3681C= (p.Ser1227=) c.3627C= (p.Ser1209=) c.3027C= (p.Ser1009=) c.3975C= (p.Ser1325=) c.3972C= (p.Ser1324=) c.3891C= (p.Ser1297=) c.3822C= (p.Ser1274=) c.3690C= (p.Ser1230=) c.3558C= (p.Ser1186=) | |
20 | g.32436423C>G | CA510467583 | ASXL1 | c.3711C>G (p.Ser1237=) c.3528C>G (p.Ser1176=) n.6064C>G c.1869+1842C>G (n.1869+1842C>G) c.3696C>G (p.Ser1232=) c.3708C>G (p.Ser1236=) c.3681C>G (p.Ser1227=) c.3627C>G (p.Ser1209=) c.3027C>G (p.Ser1009=) c.3975C>G (p.Ser1325=) c.3972C>G (p.Ser1324=) c.3891C>G (p.Ser1297=) c.3822C>G (p.Ser1274=) c.3690C>G (p.Ser1230=) c.3558C>G (p.Ser1186=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436423C>T | CA510467584 | ASXL1 | c.3711C>T (p.Ser1237=) c.3528C>T (p.Ser1176=) n.6064C>T c.1869+1842C>T (n.1869+1842C>T) c.3696C>T (p.Ser1232=) c.3708C>T (p.Ser1236=) c.3681C>T (p.Ser1227=) c.3627C>T (p.Ser1209=) c.3027C>T (p.Ser1009=) c.3975C>T (p.Ser1325=) c.3972C>T (p.Ser1324=) c.3891C>T (p.Ser1297=) c.3822C>T (p.Ser1274=) c.3690C>T (p.Ser1230=) c.3558C>T (p.Ser1186=) | dbSNP |
20 | g.32436424T>A | CA408563637 | ASXL1 | c.3712T>A (p.Phe1238Ile) c.3529T>A (p.Phe1177Ile) n.6065T>A c.1869+1843T>A (n.1869+1843T>A) c.3697T>A (p.Phe1233Ile) c.3709T>A (p.Phe1237Ile) c.3682T>A (p.Phe1228Ile) c.3628T>A (p.Phe1210Ile) c.3028T>A (p.Phe1010Ile) c.3976T>A (p.Phe1326Ile) c.3973T>A (p.Phe1325Ile) c.3892T>A (p.Phe1298Ile) c.3823T>A (p.Phe1275Ile) c.3691T>A (p.Phe1231Ile) c.3559T>A (p.Phe1187Ile) | |
20 | g.32436424T>C | CA408563638 | ASXL1 | c.3712T>C (p.Phe1238Leu) c.3529T>C (p.Phe1177Leu) n.6065T>C c.1869+1843T>C (n.1869+1843T>C) c.3697T>C (p.Phe1233Leu) c.3709T>C (p.Phe1237Leu) c.3682T>C (p.Phe1228Leu) c.3628T>C (p.Phe1210Leu) c.3028T>C (p.Phe1010Leu) c.3976T>C (p.Phe1326Leu) c.3973T>C (p.Phe1325Leu) c.3892T>C (p.Phe1298Leu) c.3823T>C (p.Phe1275Leu) c.3691T>C (p.Phe1231Leu) c.3559T>C (p.Phe1187Leu) | |
20 | g.32436424T>G | CA408563639 | ASXL1 | c.3712T>G (p.Phe1238Val) c.3529T>G (p.Phe1177Val) n.6065T>G c.1869+1843T>G (n.1869+1843T>G) c.3697T>G (p.Phe1233Val) c.3709T>G (p.Phe1237Val) c.3682T>G (p.Phe1228Val) c.3628T>G (p.Phe1210Val) c.3028T>G (p.Phe1010Val) c.3976T>G (p.Phe1326Val) c.3973T>G (p.Phe1325Val) c.3892T>G (p.Phe1298Val) c.3823T>G (p.Phe1275Val) c.3691T>G (p.Phe1231Val) c.3559T>G (p.Phe1187Val) | |
20 | g.32436426del | CA2842273175 | ASXL1 | c.3714del (p.Phe1238LeufsTer?) c.3531del (p.Phe1177LeufsTer?) n.6067del c.1869+1845del (n.1869+1845del) c.3699del (p.Phe1233LeufsTer?) c.3711del (p.Phe1237LeufsTer?) c.3684del (p.Phe1228LeufsTer?) c.3630del (p.Phe1210LeufsTer?) c.3030del (p.Phe1010LeufsTer?) c.3978del (p.Phe1326LeufsTer?) c.3975del (p.Phe1325LeufsTer?) c.3894del (p.Phe1298LeufsTer?) c.3825del (p.Phe1275LeufsTer?) c.3693del (p.Phe1231LeufsTer?) c.3561del (p.Phe1187LeufsTer?) | |
20 | g.32436425T>A | CA408563640 | ASXL1 | c.3713T>A (p.Phe1238Tyr) c.3530T>A (p.Phe1177Tyr) n.6066T>A c.1869+1844T>A (n.1869+1844T>A) c.3698T>A (p.Phe1233Tyr) c.3710T>A (p.Phe1237Tyr) c.3683T>A (p.Phe1228Tyr) c.3629T>A (p.Phe1210Tyr) c.3029T>A (p.Phe1010Tyr) c.3977T>A (p.Phe1326Tyr) c.3974T>A (p.Phe1325Tyr) c.3893T>A (p.Phe1298Tyr) c.3824T>A (p.Phe1275Tyr) c.3692T>A (p.Phe1231Tyr) c.3560T>A (p.Phe1187Tyr) | |
20 | g.32436425T>C | CA408563641 | ASXL1 | c.3713T>C (p.Phe1238Ser) c.3530T>C (p.Phe1177Ser) n.6066T>C c.1869+1844T>C (n.1869+1844T>C) c.3698T>C (p.Phe1233Ser) c.3710T>C (p.Phe1237Ser) c.3683T>C (p.Phe1228Ser) c.3629T>C (p.Phe1210Ser) c.3029T>C (p.Phe1010Ser) c.3977T>C (p.Phe1326Ser) c.3974T>C (p.Phe1325Ser) c.3893T>C (p.Phe1298Ser) c.3824T>C (p.Phe1275Ser) c.3692T>C (p.Phe1231Ser) c.3560T>C (p.Phe1187Ser) | |
20 | g.32436425T>G | CA9808884 | ASXL1 | c.3713T>G (p.Phe1238Cys) c.3530T>G (p.Phe1177Cys) n.6066T>G c.1869+1844T>G (n.1869+1844T>G) c.3698T>G (p.Phe1233Cys) c.3710T>G (p.Phe1237Cys) c.3683T>G (p.Phe1228Cys) c.3629T>G (p.Phe1210Cys) c.3029T>G (p.Phe1010Cys) c.3977T>G (p.Phe1326Cys) c.3974T>G (p.Phe1325Cys) c.3893T>G (p.Phe1298Cys) c.3824T>G (p.Phe1275Cys) c.3692T>G (p.Phe1231Cys) c.3560T>G (p.Phe1187Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436425T= | CA2360293695 | ASXL1 | c.3713T= (p.Phe1238=) c.3530T= (p.Phe1177=) n.6066T= c.1869+1844T= (n.1869+1844T=) c.3698T= (p.Phe1233=) c.3710T= (p.Phe1237=) c.3683T= (p.Phe1228=) c.3629T= (p.Phe1210=) c.3029T= (p.Phe1010=) c.3977T= (p.Phe1326=) c.3974T= (p.Phe1325=) c.3893T= (p.Phe1298=) c.3824T= (p.Phe1275=) c.3692T= (p.Phe1231=) c.3560T= (p.Phe1187=) | |
20 | g.32436426T>A | CA408563642 | ASXL1 | c.3714T>A (p.Phe1238Leu) c.3531T>A (p.Phe1177Leu) n.6067T>A c.1869+1845T>A (n.1869+1845T>A) c.3699T>A (p.Phe1233Leu) c.3711T>A (p.Phe1237Leu) c.3684T>A (p.Phe1228Leu) c.3630T>A (p.Phe1210Leu) c.3030T>A (p.Phe1010Leu) c.3978T>A (p.Phe1326Leu) c.3975T>A (p.Phe1325Leu) c.3894T>A (p.Phe1298Leu) c.3825T>A (p.Phe1275Leu) c.3693T>A (p.Phe1231Leu) c.3561T>A (p.Phe1187Leu) | |
20 | g.32436426T>C | CA510467588 | ASXL1 | c.3714T>C (p.Phe1238=) c.3531T>C (p.Phe1177=) n.6067T>C c.1869+1845T>C (n.1869+1845T>C) c.3699T>C (p.Phe1233=) c.3711T>C (p.Phe1237=) c.3684T>C (p.Phe1228=) c.3630T>C (p.Phe1210=) c.3030T>C (p.Phe1010=) c.3978T>C (p.Phe1326=) c.3975T>C (p.Phe1325=) c.3894T>C (p.Phe1298=) c.3825T>C (p.Phe1275=) c.3693T>C (p.Phe1231=) c.3561T>C (p.Phe1187=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436426T>G | CA408563643 | ASXL1 | c.3714T>G (p.Phe1238Leu) c.3531T>G (p.Phe1177Leu) n.6067T>G c.1869+1845T>G (n.1869+1845T>G) c.3699T>G (p.Phe1233Leu) c.3711T>G (p.Phe1237Leu) c.3684T>G (p.Phe1228Leu) c.3630T>G (p.Phe1210Leu) c.3030T>G (p.Phe1010Leu) c.3978T>G (p.Phe1326Leu) c.3975T>G (p.Phe1325Leu) c.3894T>G (p.Phe1298Leu) c.3825T>G (p.Phe1275Leu) c.3693T>G (p.Phe1231Leu) c.3561T>G (p.Phe1187Leu) | |
20 | g.32436426T= | CA2360293696 | ASXL1 | c.3714T= (p.Phe1238=) c.3531T= (p.Phe1177=) n.6067T= c.1869+1845T= (n.1869+1845T=) c.3699T= (p.Phe1233=) c.3711T= (p.Phe1237=) c.3684T= (p.Phe1228=) c.3630T= (p.Phe1210=) c.3030T= (p.Phe1010=) c.3978T= (p.Phe1326=) c.3975T= (p.Phe1325=) c.3894T= (p.Phe1298=) c.3825T= (p.Phe1275=) c.3693T= (p.Phe1231=) c.3561T= (p.Phe1187=) | |
20 | g.32436427A>C | CA408563644 | ASXL1 | c.3715A>C (p.Ser1239Arg) c.3532A>C (p.Ser1178Arg) n.6068A>C c.1869+1846A>C (n.1869+1846A>C) c.3700A>C (p.Ser1234Arg) c.3712A>C (p.Ser1238Arg) c.3685A>C (p.Ser1229Arg) c.3631A>C (p.Ser1211Arg) c.3031A>C (p.Ser1011Arg) c.3979A>C (p.Ser1327Arg) c.3976A>C (p.Ser1326Arg) c.3895A>C (p.Ser1299Arg) c.3826A>C (p.Ser1276Arg) c.3694A>C (p.Ser1232Arg) c.3562A>C (p.Ser1188Arg) | |
20 | g.32436427A>G | CA408563645 | ASXL1 | c.3715A>G (p.Ser1239Gly) c.3532A>G (p.Ser1178Gly) n.6068A>G c.1869+1846A>G (n.1869+1846A>G) c.3700A>G (p.Ser1234Gly) c.3712A>G (p.Ser1238Gly) c.3685A>G (p.Ser1229Gly) c.3631A>G (p.Ser1211Gly) c.3031A>G (p.Ser1011Gly) c.3979A>G (p.Ser1327Gly) c.3976A>G (p.Ser1326Gly) c.3895A>G (p.Ser1299Gly) c.3826A>G (p.Ser1276Gly) c.3694A>G (p.Ser1232Gly) c.3562A>G (p.Ser1188Gly) | |
20 | g.32436427A>T | CA408563646 | ASXL1 | c.3715A>T (p.Ser1239Cys) c.3532A>T (p.Ser1178Cys) n.6068A>T c.1869+1846A>T (n.1869+1846A>T) c.3700A>T (p.Ser1234Cys) c.3712A>T (p.Ser1238Cys) c.3685A>T (p.Ser1229Cys) c.3631A>T (p.Ser1211Cys) c.3031A>T (p.Ser1011Cys) c.3979A>T (p.Ser1327Cys) c.3976A>T (p.Ser1326Cys) c.3895A>T (p.Ser1299Cys) c.3826A>T (p.Ser1276Cys) c.3694A>T (p.Ser1232Cys) c.3562A>T (p.Ser1188Cys) | |
20 | g.32436428G>A | CA408563647 | ASXL1 | c.3716G>A (p.Ser1239Asn) c.3533G>A (p.Ser1178Asn) n.6069G>A c.1869+1847G>A (n.1869+1847G>A) c.3701G>A (p.Ser1234Asn) c.3713G>A (p.Ser1238Asn) c.3686G>A (p.Ser1229Asn) c.3632G>A (p.Ser1211Asn) c.3032G>A (p.Ser1011Asn) c.3980G>A (p.Ser1327Asn) c.3977G>A (p.Ser1326Asn) c.3896G>A (p.Ser1299Asn) c.3827G>A (p.Ser1276Asn) c.3695G>A (p.Ser1232Asn) c.3563G>A (p.Ser1188Asn) | |
20 | g.32436428G>C | CA408563648 | ASXL1 | c.3716G>C (p.Ser1239Thr) c.3533G>C (p.Ser1178Thr) n.6069G>C c.1869+1847G>C (n.1869+1847G>C) c.3701G>C (p.Ser1234Thr) c.3713G>C (p.Ser1238Thr) c.3686G>C (p.Ser1229Thr) c.3632G>C (p.Ser1211Thr) c.3032G>C (p.Ser1011Thr) c.3980G>C (p.Ser1327Thr) c.3977G>C (p.Ser1326Thr) c.3896G>C (p.Ser1299Thr) c.3827G>C (p.Ser1276Thr) c.3695G>C (p.Ser1232Thr) c.3563G>C (p.Ser1188Thr) | |
20 | g.32436428G>T | CA408563649 | ASXL1 | c.3716G>T (p.Ser1239Ile) c.3533G>T (p.Ser1178Ile) n.6069G>T c.1869+1847G>T (n.1869+1847G>T) c.3701G>T (p.Ser1234Ile) c.3713G>T (p.Ser1238Ile) c.3686G>T (p.Ser1229Ile) c.3632G>T (p.Ser1211Ile) c.3032G>T (p.Ser1011Ile) c.3980G>T (p.Ser1327Ile) c.3977G>T (p.Ser1326Ile) c.3896G>T (p.Ser1299Ile) c.3827G>T (p.Ser1276Ile) c.3695G>T (p.Ser1232Ile) c.3563G>T (p.Ser1188Ile) | |
20 | g.32436429T>A | CA408563650 | ASXL1 | c.3717T>A (p.Ser1239Arg) c.3534T>A (p.Ser1178Arg) n.6070T>A c.1869+1848T>A (n.1869+1848T>A) c.3702T>A (p.Ser1234Arg) c.3714T>A (p.Ser1238Arg) c.3687T>A (p.Ser1229Arg) c.3633T>A (p.Ser1211Arg) c.3033T>A (p.Ser1011Arg) c.3981T>A (p.Ser1327Arg) c.3978T>A (p.Ser1326Arg) c.3897T>A (p.Ser1299Arg) c.3828T>A (p.Ser1276Arg) c.3696T>A (p.Ser1232Arg) c.3564T>A (p.Ser1188Arg) | |
20 | g.32436429T>C | CA510467592 | ASXL1 | c.3717T>C (p.Ser1239=) c.3534T>C (p.Ser1178=) n.6070T>C c.1869+1848T>C (n.1869+1848T>C) c.3702T>C (p.Ser1234=) c.3714T>C (p.Ser1238=) c.3687T>C (p.Ser1229=) c.3633T>C (p.Ser1211=) c.3033T>C (p.Ser1011=) c.3981T>C (p.Ser1327=) c.3978T>C (p.Ser1326=) c.3897T>C (p.Ser1299=) c.3828T>C (p.Ser1276=) c.3696T>C (p.Ser1232=) c.3564T>C (p.Ser1188=) | dbSNP |
20 | g.32436429T>G | CA408563651 | ASXL1 | c.3717T>G (p.Ser1239Arg) c.3534T>G (p.Ser1178Arg) n.6070T>G c.1869+1848T>G (n.1869+1848T>G) c.3702T>G (p.Ser1234Arg) c.3714T>G (p.Ser1238Arg) c.3687T>G (p.Ser1229Arg) c.3633T>G (p.Ser1211Arg) c.3033T>G (p.Ser1011Arg) c.3981T>G (p.Ser1327Arg) c.3978T>G (p.Ser1326Arg) c.3897T>G (p.Ser1299Arg) c.3828T>G (p.Ser1276Arg) c.3696T>G (p.Ser1232Arg) c.3564T>G (p.Ser1188Arg) | |
20 | g.32436430T>A | CA408563653 | ASXL1 | c.3718T>A (p.Cys1240Ser) c.3535T>A (p.Cys1179Ser) n.6071T>A c.1869+1849T>A (n.1869+1849T>A) c.3703T>A (p.Cys1235Ser) c.3715T>A (p.Cys1239Ser) c.3688T>A (p.Cys1230Ser) c.3634T>A (p.Cys1212Ser) c.3034T>A (p.Cys1012Ser) c.3982T>A (p.Cys1328Ser) c.3979T>A (p.Cys1327Ser) c.3898T>A (p.Cys1300Ser) c.3829T>A (p.Cys1277Ser) c.3697T>A (p.Cys1233Ser) c.3565T>A (p.Cys1189Ser) | |
20 | g.32436430T>C | CA9808885 | ASXL1 | c.3718T>C (p.Cys1240Arg) c.3535T>C (p.Cys1179Arg) n.6071T>C c.1869+1849T>C (n.1869+1849T>C) c.3703T>C (p.Cys1235Arg) c.3715T>C (p.Cys1239Arg) c.3688T>C (p.Cys1230Arg) c.3634T>C (p.Cys1212Arg) c.3034T>C (p.Cys1012Arg) c.3982T>C (p.Cys1328Arg) c.3979T>C (p.Cys1327Arg) c.3898T>C (p.Cys1300Arg) c.3829T>C (p.Cys1277Arg) c.3697T>C (p.Cys1233Arg) c.3565T>C (p.Cys1189Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436430T>G | CA408563652 | ASXL1 | c.3718T>G (p.Cys1240Gly) c.3535T>G (p.Cys1179Gly) n.6071T>G c.1869+1849T>G (n.1869+1849T>G) c.3703T>G (p.Cys1235Gly) c.3715T>G (p.Cys1239Gly) c.3688T>G (p.Cys1230Gly) c.3634T>G (p.Cys1212Gly) c.3034T>G (p.Cys1012Gly) c.3982T>G (p.Cys1328Gly) c.3979T>G (p.Cys1327Gly) c.3898T>G (p.Cys1300Gly) c.3829T>G (p.Cys1277Gly) c.3697T>G (p.Cys1233Gly) c.3565T>G (p.Cys1189Gly) | |
20 | g.32436430T= | CA2360293697 | ASXL1 | c.3718T= (p.Cys1240=) c.3535T= (p.Cys1179=) n.6071T= c.1869+1849T= (n.1869+1849T=) c.3703T= (p.Cys1235=) c.3715T= (p.Cys1239=) c.3688T= (p.Cys1230=) c.3634T= (p.Cys1212=) c.3034T= (p.Cys1012=) c.3982T= (p.Cys1328=) c.3979T= (p.Cys1327=) c.3898T= (p.Cys1300=) c.3829T= (p.Cys1277=) c.3697T= (p.Cys1233=) c.3565T= (p.Cys1189=) | |
20 | g.32436431G>A | CA408563654 | ASXL1 | c.3719G>A (p.Cys1240Tyr) c.3536G>A (p.Cys1179Tyr) n.6072G>A c.1869+1850G>A (n.1869+1850G>A) c.3704G>A (p.Cys1235Tyr) c.3716G>A (p.Cys1239Tyr) c.3689G>A (p.Cys1230Tyr) c.3635G>A (p.Cys1212Tyr) c.3035G>A (p.Cys1012Tyr) c.3983G>A (p.Cys1328Tyr) c.3980G>A (p.Cys1327Tyr) c.3899G>A (p.Cys1300Tyr) c.3830G>A (p.Cys1277Tyr) c.3698G>A (p.Cys1233Tyr) c.3566G>A (p.Cys1189Tyr) | dbSNP |
20 | g.32436431G>C | CA408563655 | ASXL1 | c.3719G>C (p.Cys1240Ser) c.3536G>C (p.Cys1179Ser) n.6072G>C c.1869+1850G>C (n.1869+1850G>C) c.3704G>C (p.Cys1235Ser) c.3716G>C (p.Cys1239Ser) c.3689G>C (p.Cys1230Ser) c.3635G>C (p.Cys1212Ser) c.3035G>C (p.Cys1012Ser) c.3983G>C (p.Cys1328Ser) c.3980G>C (p.Cys1327Ser) c.3899G>C (p.Cys1300Ser) c.3830G>C (p.Cys1277Ser) c.3698G>C (p.Cys1233Ser) c.3566G>C (p.Cys1189Ser) | |
20 | g.32436431G>T | CA408563656 | ASXL1 | c.3719G>T (p.Cys1240Phe) c.3536G>T (p.Cys1179Phe) n.6072G>T c.1869+1850G>T (n.1869+1850G>T) c.3704G>T (p.Cys1235Phe) c.3716G>T (p.Cys1239Phe) c.3689G>T (p.Cys1230Phe) c.3635G>T (p.Cys1212Phe) c.3035G>T (p.Cys1012Phe) c.3983G>T (p.Cys1328Phe) c.3980G>T (p.Cys1327Phe) c.3899G>T (p.Cys1300Phe) c.3830G>T (p.Cys1277Phe) c.3698G>T (p.Cys1233Phe) c.3566G>T (p.Cys1189Phe) | |
20 | g.32436432T>A | CA408563657 | ASXL1 | c.3720T>A (p.Cys1240Ter) c.3537T>A (p.Cys1179Ter) n.6073T>A c.1869+1851T>A (n.1869+1851T>A) c.3705T>A (p.Cys1235Ter) c.3717T>A (p.Cys1239Ter) c.3690T>A (p.Cys1230Ter) c.3636T>A (p.Cys1212Ter) c.3036T>A (p.Cys1012Ter) c.3984T>A (p.Cys1328Ter) c.3981T>A (p.Cys1327Ter) c.3900T>A (p.Cys1300Ter) c.3831T>A (p.Cys1277Ter) c.3699T>A (p.Cys1233Ter) c.3567T>A (p.Cys1189Ter) | |
20 | g.32436432T>C | CA9808886 | ASXL1 | c.3720T>C (p.Cys1240=) c.3537T>C (p.Cys1179=) n.6073T>C c.1869+1851T>C (n.1869+1851T>C) c.3705T>C (p.Cys1235=) c.3717T>C (p.Cys1239=) c.3690T>C (p.Cys1230=) c.3636T>C (p.Cys1212=) c.3036T>C (p.Cys1012=) c.3984T>C (p.Cys1328=) c.3981T>C (p.Cys1327=) c.3900T>C (p.Cys1300=) c.3831T>C (p.Cys1277=) c.3699T>C (p.Cys1233=) c.3567T>C (p.Cys1189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436432T>G | CA408563658 | ASXL1 | c.3720T>G (p.Cys1240Trp) c.3537T>G (p.Cys1179Trp) n.6073T>G c.1869+1851T>G (n.1869+1851T>G) c.3705T>G (p.Cys1235Trp) c.3717T>G (p.Cys1239Trp) c.3690T>G (p.Cys1230Trp) c.3636T>G (p.Cys1212Trp) c.3036T>G (p.Cys1012Trp) c.3984T>G (p.Cys1328Trp) c.3981T>G (p.Cys1327Trp) c.3900T>G (p.Cys1300Trp) c.3831T>G (p.Cys1277Trp) c.3699T>G (p.Cys1233Trp) c.3567T>G (p.Cys1189Trp) | |
20 | g.32436432T= | CA2360293698 | ASXL1 | c.3720T= (p.Cys1240=) c.3537T= (p.Cys1179=) n.6073T= c.1869+1851T= (n.1869+1851T=) c.3705T= (p.Cys1235=) c.3717T= (p.Cys1239=) c.3690T= (p.Cys1230=) c.3636T= (p.Cys1212=) c.3036T= (p.Cys1012=) c.3984T= (p.Cys1328=) c.3981T= (p.Cys1327=) c.3900T= (p.Cys1300=) c.3831T= (p.Cys1277=) c.3699T= (p.Cys1233=) c.3567T= (p.Cys1189=) | |
20 | g.32436433G>A | CA313926356 | ASXL1 | c.3721G>A (p.Glu1241Lys) c.3538G>A (p.Glu1180Lys) n.6074G>A c.1869+1852G>A (n.1869+1852G>A) c.3706G>A (p.Glu1236Lys) c.3718G>A (p.Glu1240Lys) c.3691G>A (p.Glu1231Lys) c.3637G>A (p.Glu1213Lys) c.3037G>A (p.Glu1013Lys) c.3985G>A (p.Glu1329Lys) c.3982G>A (p.Glu1328Lys) c.3901G>A (p.Glu1301Lys) c.3832G>A (p.Glu1278Lys) c.3700G>A (p.Glu1234Lys) c.3568G>A (p.Glu1190Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.32436433G>C | CA408563659 | ASXL1 | c.3721G>C (p.Glu1241Gln) c.3538G>C (p.Glu1180Gln) n.6074G>C c.1869+1852G>C (n.1869+1852G>C) c.3706G>C (p.Glu1236Gln) c.3718G>C (p.Glu1240Gln) c.3691G>C (p.Glu1231Gln) c.3637G>C (p.Glu1213Gln) c.3037G>C (p.Glu1013Gln) c.3985G>C (p.Glu1329Gln) c.3982G>C (p.Glu1328Gln) c.3901G>C (p.Glu1301Gln) c.3832G>C (p.Glu1278Gln) c.3700G>C (p.Glu1234Gln) c.3568G>C (p.Glu1190Gln) | |
20 | g.32436433G= | CA2360293699 | ASXL1 | c.3721G= (p.Glu1241=) c.3538G= (p.Glu1180=) n.6074G= c.1869+1852G= (n.1869+1852G=) c.3706G= (p.Glu1236=) c.3718G= (p.Glu1240=) c.3691G= (p.Glu1231=) c.3637G= (p.Glu1213=) c.3037G= (p.Glu1013=) c.3985G= (p.Glu1329=) c.3982G= (p.Glu1328=) c.3901G= (p.Glu1301=) c.3832G= (p.Glu1278=) c.3700G= (p.Glu1234=) c.3568G= (p.Glu1190=) | |
20 | g.32436433G>T | CA408563660 | ASXL1 | c.3721G>T (p.Glu1241Ter) c.3538G>T (p.Glu1180Ter) n.6074G>T c.1869+1852G>T (n.1869+1852G>T) c.3706G>T (p.Glu1236Ter) c.3718G>T (p.Glu1240Ter) c.3691G>T (p.Glu1231Ter) c.3637G>T (p.Glu1213Ter) c.3037G>T (p.Glu1013Ter) c.3985G>T (p.Glu1329Ter) c.3982G>T (p.Glu1328Ter) c.3901G>T (p.Glu1301Ter) c.3832G>T (p.Glu1278Ter) c.3700G>T (p.Glu1234Ter) c.3568G>T (p.Glu1190Ter) | |
20 | g.32436434A>C | CA408563661 | ASXL1 | c.3722A>C (p.Glu1241Ala) c.3539A>C (p.Glu1180Ala) n.6075A>C c.1869+1853A>C (n.1869+1853A>C) c.3707A>C (p.Glu1236Ala) c.3719A>C (p.Glu1240Ala) c.3692A>C (p.Glu1231Ala) c.3638A>C (p.Glu1213Ala) c.3038A>C (p.Glu1013Ala) c.3986A>C (p.Glu1329Ala) c.3983A>C (p.Glu1328Ala) c.3902A>C (p.Glu1301Ala) c.3833A>C (p.Glu1278Ala) c.3701A>C (p.Glu1234Ala) c.3569A>C (p.Glu1190Ala) | |
20 | g.32436434A>G | CA408563662 | ASXL1 | c.3722A>G (p.Glu1241Gly) c.3539A>G (p.Glu1180Gly) n.6075A>G c.1869+1853A>G (n.1869+1853A>G) c.3707A>G (p.Glu1236Gly) c.3719A>G (p.Glu1240Gly) c.3692A>G (p.Glu1231Gly) c.3638A>G (p.Glu1213Gly) c.3038A>G (p.Glu1013Gly) c.3986A>G (p.Glu1329Gly) c.3983A>G (p.Glu1328Gly) c.3902A>G (p.Glu1301Gly) c.3833A>G (p.Glu1278Gly) c.3701A>G (p.Glu1234Gly) c.3569A>G (p.Glu1190Gly) | |
20 | g.32436434A>T | CA408563663 | ASXL1 | c.3722A>T (p.Glu1241Val) c.3539A>T (p.Glu1180Val) n.6075A>T c.1869+1853A>T (n.1869+1853A>T) c.3707A>T (p.Glu1236Val) c.3719A>T (p.Glu1240Val) c.3692A>T (p.Glu1231Val) c.3638A>T (p.Glu1213Val) c.3038A>T (p.Glu1013Val) c.3986A>T (p.Glu1329Val) c.3983A>T (p.Glu1328Val) c.3902A>T (p.Glu1301Val) c.3833A>T (p.Glu1278Val) c.3701A>T (p.Glu1234Val) c.3569A>T (p.Glu1190Val) | gnomAD v3 gnomAD v4 |
20 | g.32436435A>C | CA408563664 | ASXL1 | c.3723A>C (p.Glu1241Asp) c.3540A>C (p.Glu1180Asp) n.6076A>C c.1869+1854A>C (n.1869+1854A>C) c.3708A>C (p.Glu1236Asp) c.3720A>C (p.Glu1240Asp) c.3693A>C (p.Glu1231Asp) c.3639A>C (p.Glu1213Asp) c.3039A>C (p.Glu1013Asp) c.3987A>C (p.Glu1329Asp) c.3984A>C (p.Glu1328Asp) c.3903A>C (p.Glu1301Asp) c.3834A>C (p.Glu1278Asp) c.3702A>C (p.Glu1234Asp) c.3570A>C (p.Glu1190Asp) | |
20 | g.32436435A>G | CA510467597 | ASXL1 | c.3723A>G (p.Glu1241=) c.3540A>G (p.Glu1180=) n.6076A>G c.1869+1854A>G (n.1869+1854A>G) c.3708A>G (p.Glu1236=) c.3720A>G (p.Glu1240=) c.3693A>G (p.Glu1231=) c.3639A>G (p.Glu1213=) c.3039A>G (p.Glu1013=) c.3987A>G (p.Glu1329=) c.3984A>G (p.Glu1328=) c.3903A>G (p.Glu1301=) c.3834A>G (p.Glu1278=) c.3702A>G (p.Glu1234=) c.3570A>G (p.Glu1190=) | |
20 | g.32436435A>T | CA408563665 | ASXL1 | c.3723A>T (p.Glu1241Asp) c.3540A>T (p.Glu1180Asp) n.6076A>T c.1869+1854A>T (n.1869+1854A>T) c.3708A>T (p.Glu1236Asp) c.3720A>T (p.Glu1240Asp) c.3693A>T (p.Glu1231Asp) c.3639A>T (p.Glu1213Asp) c.3039A>T (p.Glu1013Asp) c.3987A>T (p.Glu1329Asp) c.3984A>T (p.Glu1328Asp) c.3903A>T (p.Glu1301Asp) c.3834A>T (p.Glu1278Asp) c.3702A>T (p.Glu1234Asp) c.3570A>T (p.Glu1190Asp) | |
20 | g.32436436G>A | CA408563666 | ASXL1 | c.3724G>A (p.Asp1242Asn) c.3541G>A (p.Asp1181Asn) n.6077G>A c.1869+1855G>A (n.1869+1855G>A) c.3709G>A (p.Asp1237Asn) c.3721G>A (p.Asp1241Asn) c.3694G>A (p.Asp1232Asn) c.3640G>A (p.Asp1214Asn) c.3040G>A (p.Asp1014Asn) c.3988G>A (p.Asp1330Asn) c.3985G>A (p.Asp1329Asn) c.3904G>A (p.Asp1302Asn) c.3835G>A (p.Asp1279Asn) c.3703G>A (p.Asp1235Asn) c.3571G>A (p.Asp1191Asn) | dbSNP |
20 | g.32436436G>C | CA408563668 | ASXL1 | c.3724G>C (p.Asp1242His) c.3541G>C (p.Asp1181His) n.6077G>C c.1869+1855G>C (n.1869+1855G>C) c.3709G>C (p.Asp1237His) c.3721G>C (p.Asp1241His) c.3694G>C (p.Asp1232His) c.3640G>C (p.Asp1214His) c.3040G>C (p.Asp1014His) c.3988G>C (p.Asp1330His) c.3985G>C (p.Asp1329His) c.3904G>C (p.Asp1302His) c.3835G>C (p.Asp1279His) c.3703G>C (p.Asp1235His) c.3571G>C (p.Asp1191His) | |
20 | g.32436436G= | CA2360293700 | ASXL1 | c.3724G= (p.Asp1242=) c.3541G= (p.Asp1181=) n.6077G= c.1869+1855G= (n.1869+1855G=) c.3709G= (p.Asp1237=) c.3721G= (p.Asp1241=) c.3694G= (p.Asp1232=) c.3640G= (p.Asp1214=) c.3040G= (p.Asp1014=) c.3988G= (p.Asp1330=) c.3985G= (p.Asp1329=) c.3904G= (p.Asp1302=) c.3835G= (p.Asp1279=) c.3703G= (p.Asp1235=) c.3571G= (p.Asp1191=) | |
20 | g.32436436G>T | CA408563667 | ASXL1 | c.3724G>T (p.Asp1242Tyr) c.3541G>T (p.Asp1181Tyr) n.6077G>T c.1869+1855G>T (n.1869+1855G>T) c.3709G>T (p.Asp1237Tyr) c.3721G>T (p.Asp1241Tyr) c.3694G>T (p.Asp1232Tyr) c.3640G>T (p.Asp1214Tyr) c.3040G>T (p.Asp1014Tyr) c.3988G>T (p.Asp1330Tyr) c.3985G>T (p.Asp1329Tyr) c.3904G>T (p.Asp1302Tyr) c.3835G>T (p.Asp1279Tyr) c.3703G>T (p.Asp1235Tyr) c.3571G>T (p.Asp1191Tyr) | |
20 | g.32436437A= | CA2360293701 | ASXL1 | c.3725A= (p.Asp1242=) c.3542A= (p.Asp1181=) n.6078A= c.1869+1856A= (n.1869+1856A=) c.3710A= (p.Asp1237=) c.3722A= (p.Asp1241=) c.3695A= (p.Asp1232=) c.3641A= (p.Asp1214=) c.3041A= (p.Asp1014=) c.3989A= (p.Asp1330=) c.3986A= (p.Asp1329=) c.3905A= (p.Asp1302=) c.3836A= (p.Asp1279=) c.3704A= (p.Asp1235=) c.3572A= (p.Asp1191=) | |
20 | g.32436437A>C | CA408563669 | ASXL1 | c.3725A>C (p.Asp1242Ala) c.3542A>C (p.Asp1181Ala) n.6078A>C c.1869+1856A>C (n.1869+1856A>C) c.3710A>C (p.Asp1237Ala) c.3722A>C (p.Asp1241Ala) c.3695A>C (p.Asp1232Ala) c.3641A>C (p.Asp1214Ala) c.3041A>C (p.Asp1014Ala) c.3989A>C (p.Asp1330Ala) c.3986A>C (p.Asp1329Ala) c.3905A>C (p.Asp1302Ala) c.3836A>C (p.Asp1279Ala) c.3704A>C (p.Asp1235Ala) c.3572A>C (p.Asp1191Ala) | |
20 | g.32436437A>G | CA408563670 | ASXL1 | c.3725A>G (p.Asp1242Gly) c.3542A>G (p.Asp1181Gly) n.6078A>G c.1869+1856A>G (n.1869+1856A>G) c.3710A>G (p.Asp1237Gly) c.3722A>G (p.Asp1241Gly) c.3695A>G (p.Asp1232Gly) c.3641A>G (p.Asp1214Gly) c.3041A>G (p.Asp1014Gly) c.3989A>G (p.Asp1330Gly) c.3986A>G (p.Asp1329Gly) c.3905A>G (p.Asp1302Gly) c.3836A>G (p.Asp1279Gly) c.3704A>G (p.Asp1235Gly) c.3572A>G (p.Asp1191Gly) | ClinVar dbSNP |
20 | g.32436437A>T | CA408563671 | ASXL1 | c.3725A>T (p.Asp1242Val) c.3542A>T (p.Asp1181Val) n.6078A>T c.1869+1856A>T (n.1869+1856A>T) c.3710A>T (p.Asp1237Val) c.3722A>T (p.Asp1241Val) c.3695A>T (p.Asp1232Val) c.3641A>T (p.Asp1214Val) c.3041A>T (p.Asp1014Val) c.3989A>T (p.Asp1330Val) c.3986A>T (p.Asp1329Val) c.3905A>T (p.Asp1302Val) c.3836A>T (p.Asp1279Val) c.3704A>T (p.Asp1235Val) c.3572A>T (p.Asp1191Val) | |
20 | g.32436438T>A | CA408563672 | ASXL1 | c.3726T>A (p.Asp1242Glu) c.3543T>A (p.Asp1181Glu) n.6079T>A c.1869+1857T>A (n.1869+1857T>A) c.3711T>A (p.Asp1237Glu) c.3723T>A (p.Asp1241Glu) c.3696T>A (p.Asp1232Glu) c.3642T>A (p.Asp1214Glu) c.3042T>A (p.Asp1014Glu) c.3990T>A (p.Asp1330Glu) c.3987T>A (p.Asp1329Glu) c.3906T>A (p.Asp1302Glu) c.3837T>A (p.Asp1279Glu) c.3705T>A (p.Asp1235Glu) c.3573T>A (p.Asp1191Glu) | |
20 | g.32436438T>C | CA510467599 | ASXL1 | c.3726T>C (p.Asp1242=) c.3543T>C (p.Asp1181=) n.6079T>C c.1869+1857T>C (n.1869+1857T>C) c.3711T>C (p.Asp1237=) c.3723T>C (p.Asp1241=) c.3696T>C (p.Asp1232=) c.3642T>C (p.Asp1214=) c.3042T>C (p.Asp1014=) c.3990T>C (p.Asp1330=) c.3987T>C (p.Asp1329=) c.3906T>C (p.Asp1302=) c.3837T>C (p.Asp1279=) c.3705T>C (p.Asp1235=) c.3573T>C (p.Asp1191=) | |
20 | g.32436438T>G | CA408563673 | ASXL1 | c.3726T>G (p.Asp1242Glu) c.3543T>G (p.Asp1181Glu) n.6079T>G c.1869+1857T>G (n.1869+1857T>G) c.3711T>G (p.Asp1237Glu) c.3723T>G (p.Asp1241Glu) c.3696T>G (p.Asp1232Glu) c.3642T>G (p.Asp1214Glu) c.3042T>G (p.Asp1014Glu) c.3990T>G (p.Asp1330Glu) c.3987T>G (p.Asp1329Glu) c.3906T>G (p.Asp1302Glu) c.3837T>G (p.Asp1279Glu) c.3705T>G (p.Asp1235Glu) c.3573T>G (p.Asp1191Glu) | |
20 | g.32436439del | CA2838759597 | ASXL1 | c.3727del (p.Gln1243ArgfsTer?) c.3544del (p.Gln1182ArgfsTer?) n.6080del c.1869+1858del (n.1869+1858del) c.3712del (p.Gln1238ArgfsTer?) c.3724del (p.Gln1242ArgfsTer?) c.3697del (p.Gln1233ArgfsTer?) c.3643del (p.Gln1215ArgfsTer?) c.3043del (p.Gln1015ArgfsTer?) c.3991del (p.Gln1331ArgfsTer?) c.3988del (p.Gln1330ArgfsTer?) c.3907del (p.Gln1303ArgfsTer?) c.3838del (p.Gln1280ArgfsTer?) c.3706del (p.Gln1236ArgfsTer?) c.3574del (p.Gln1192ArgfsTer?) | |
20 | g.32436439C>A | CA408563674 | ASXL1 | c.3727C>A (p.Gln1243Lys) c.3544C>A (p.Gln1182Lys) n.6080C>A c.1869+1858C>A (n.1869+1858C>A) c.3712C>A (p.Gln1238Lys) c.3724C>A (p.Gln1242Lys) c.3697C>A (p.Gln1233Lys) c.3643C>A (p.Gln1215Lys) c.3043C>A (p.Gln1015Lys) c.3991C>A (p.Gln1331Lys) c.3988C>A (p.Gln1330Lys) c.3907C>A (p.Gln1303Lys) c.3838C>A (p.Gln1280Lys) c.3706C>A (p.Gln1236Lys) c.3574C>A (p.Gln1192Lys) | |
20 | g.32436439C>G | CA408563675 | ASXL1 | c.3727C>G (p.Gln1243Glu) c.3544C>G (p.Gln1182Glu) n.6080C>G c.1869+1858C>G (n.1869+1858C>G) c.3712C>G (p.Gln1238Glu) c.3724C>G (p.Gln1242Glu) c.3697C>G (p.Gln1233Glu) c.3643C>G (p.Gln1215Glu) c.3043C>G (p.Gln1015Glu) c.3991C>G (p.Gln1331Glu) c.3988C>G (p.Gln1330Glu) c.3907C>G (p.Gln1303Glu) c.3838C>G (p.Gln1280Glu) c.3706C>G (p.Gln1236Glu) c.3574C>G (p.Gln1192Glu) | |
20 | g.32436439C>T | CA408563676 | ASXL1 | c.3727C>T (p.Gln1243Ter) c.3544C>T (p.Gln1182Ter) n.6080C>T c.1869+1858C>T (n.1869+1858C>T) c.3712C>T (p.Gln1238Ter) c.3724C>T (p.Gln1242Ter) c.3697C>T (p.Gln1233Ter) c.3643C>T (p.Gln1215Ter) c.3043C>T (p.Gln1015Ter) c.3991C>T (p.Gln1331Ter) c.3988C>T (p.Gln1330Ter) c.3907C>T (p.Gln1303Ter) c.3838C>T (p.Gln1280Ter) c.3706C>T (p.Gln1236Ter) c.3574C>T (p.Gln1192Ter) | |
20 | g.32436440A>C | CA408563677 | ASXL1 | c.3728A>C (p.Gln1243Pro) c.3545A>C (p.Gln1182Pro) n.6081A>C c.1869+1859A>C (n.1869+1859A>C) c.3713A>C (p.Gln1238Pro) c.3725A>C (p.Gln1242Pro) c.3698A>C (p.Gln1233Pro) c.3644A>C (p.Gln1215Pro) c.3044A>C (p.Gln1015Pro) c.3992A>C (p.Gln1331Pro) c.3989A>C (p.Gln1330Pro) c.3908A>C (p.Gln1303Pro) c.3839A>C (p.Gln1280Pro) c.3707A>C (p.Gln1236Pro) c.3575A>C (p.Gln1192Pro) | |
20 | g.32436440A>G | CA408563678 | ASXL1 | c.3728A>G (p.Gln1243Arg) c.3545A>G (p.Gln1182Arg) n.6081A>G c.1869+1859A>G (n.1869+1859A>G) c.3713A>G (p.Gln1238Arg) c.3725A>G (p.Gln1242Arg) c.3698A>G (p.Gln1233Arg) c.3644A>G (p.Gln1215Arg) c.3044A>G (p.Gln1015Arg) c.3992A>G (p.Gln1331Arg) c.3989A>G (p.Gln1330Arg) c.3908A>G (p.Gln1303Arg) c.3839A>G (p.Gln1280Arg) c.3707A>G (p.Gln1236Arg) c.3575A>G (p.Gln1192Arg) | |
20 | g.32436440A>T | CA408563679 | ASXL1 | c.3728A>T (p.Gln1243Leu) c.3545A>T (p.Gln1182Leu) n.6081A>T c.1869+1859A>T (n.1869+1859A>T) c.3713A>T (p.Gln1238Leu) c.3725A>T (p.Gln1242Leu) c.3698A>T (p.Gln1233Leu) c.3644A>T (p.Gln1215Leu) c.3044A>T (p.Gln1015Leu) c.3992A>T (p.Gln1331Leu) c.3989A>T (p.Gln1330Leu) c.3908A>T (p.Gln1303Leu) c.3839A>T (p.Gln1280Leu) c.3707A>T (p.Gln1236Leu) c.3575A>T (p.Gln1192Leu) | |
20 | g.32436440_32436448del | CA2564321228 | ASXL1 | c.3728_3736del (p.Gln1243_Val1246delinsLeu) c.3545_3553del (p.Gln1182_Val1185delinsLeu) n.6081_6089del c.1869+1859_1869+1867del (n.1869+1859_1869+1867del) c.3713_3721del (p.Gln1238_Val1241delinsLeu) c.3725_3733del (p.Gln1242_Val1245delinsLeu) c.3698_3706del (p.Gln1233_Val1236delinsLeu) c.3644_3652del (p.Gln1215_Val1218delinsLeu) c.3044_3052del (p.Gln1015_Val1018delinsLeu) c.3992_4000del (p.Gln1331_Val1334delinsLeu) c.3989_3997del (p.Gln1330_Val1333delinsLeu) c.3908_3916del (p.Gln1303_Val1306delinsLeu) c.3839_3847del (p.Gln1280_Val1283delinsLeu) c.3707_3715del (p.Gln1236_Val1239delinsLeu) c.3575_3583del (p.Gln1192_Val1195delinsLeu) | |
20 | g.32436441G>A | CA510467603 | ASXL1 | c.3729G>A (p.Gln1243=) c.3546G>A (p.Gln1182=) n.6082G>A c.1869+1860G>A (n.1869+1860G>A) c.3714G>A (p.Gln1238=) c.3726G>A (p.Gln1242=) c.3699G>A (p.Gln1233=) c.3645G>A (p.Gln1215=) c.3045G>A (p.Gln1015=) c.3993G>A (p.Gln1331=) c.3990G>A (p.Gln1330=) c.3909G>A (p.Gln1303=) c.3840G>A (p.Gln1280=) c.3708G>A (p.Gln1236=) c.3576G>A (p.Gln1192=) | |
20 | g.32436441G>C | CA408563681 | ASXL1 | c.3729G>C (p.Gln1243His) c.3546G>C (p.Gln1182His) n.6082G>C c.1869+1860G>C (n.1869+1860G>C) c.3714G>C (p.Gln1238His) c.3726G>C (p.Gln1242His) c.3699G>C (p.Gln1233His) c.3645G>C (p.Gln1215His) c.3045G>C (p.Gln1015His) c.3993G>C (p.Gln1331His) c.3990G>C (p.Gln1330His) c.3909G>C (p.Gln1303His) c.3840G>C (p.Gln1280His) c.3708G>C (p.Gln1236His) c.3576G>C (p.Gln1192His) | gnomAD v4 |
20 | g.32436441G>T | CA408563680 | ASXL1 | c.3729G>T (p.Gln1243His) c.3546G>T (p.Gln1182His) n.6082G>T c.1869+1860G>T (n.1869+1860G>T) c.3714G>T (p.Gln1238His) c.3726G>T (p.Gln1242His) c.3699G>T (p.Gln1233His) c.3645G>T (p.Gln1215His) c.3045G>T (p.Gln1015His) c.3993G>T (p.Gln1331His) c.3990G>T (p.Gln1330His) c.3909G>T (p.Gln1303His) c.3840G>T (p.Gln1280His) c.3708G>T (p.Gln1236His) c.3576G>T (p.Gln1192His) | gnomAD v4 |
20 | g.32436442A= | CA2360293702 | ASXL1 | c.3730A= (p.Lys1244=) c.3547A= (p.Lys1183=) n.6083A= c.1869+1861A= (n.1869+1861A=) c.3715A= (p.Lys1239=) c.3727A= (p.Lys1243=) c.3700A= (p.Lys1234=) c.3646A= (p.Lys1216=) c.3046A= (p.Lys1016=) c.3994A= (p.Lys1332=) c.3991A= (p.Lys1331=) c.3910A= (p.Lys1304=) c.3841A= (p.Lys1281=) c.3709A= (p.Lys1237=) c.3577A= (p.Lys1193=) | |
20 | g.32436442A>C | CA408563682 | ASXL1 | c.3730A>C (p.Lys1244Gln) c.3547A>C (p.Lys1183Gln) n.6083A>C c.1869+1861A>C (n.1869+1861A>C) c.3715A>C (p.Lys1239Gln) c.3727A>C (p.Lys1243Gln) c.3700A>C (p.Lys1234Gln) c.3646A>C (p.Lys1216Gln) c.3046A>C (p.Lys1016Gln) c.3994A>C (p.Lys1332Gln) c.3991A>C (p.Lys1331Gln) c.3910A>C (p.Lys1304Gln) c.3841A>C (p.Lys1281Gln) c.3709A>C (p.Lys1237Gln) c.3577A>C (p.Lys1193Gln) | |
20 | g.32436442A>G | CA9808887 | ASXL1 | c.3730A>G (p.Lys1244Glu) c.3547A>G (p.Lys1183Glu) n.6083A>G c.1869+1861A>G (n.1869+1861A>G) c.3715A>G (p.Lys1239Glu) c.3727A>G (p.Lys1243Glu) c.3700A>G (p.Lys1234Glu) c.3646A>G (p.Lys1216Glu) c.3046A>G (p.Lys1016Glu) c.3994A>G (p.Lys1332Glu) c.3991A>G (p.Lys1331Glu) c.3910A>G (p.Lys1304Glu) c.3841A>G (p.Lys1281Glu) c.3709A>G (p.Lys1237Glu) c.3577A>G (p.Lys1193Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436442A>T | CA408563683 | ASXL1 | c.3730A>T (p.Lys1244Ter) c.3547A>T (p.Lys1183Ter) n.6083A>T c.1869+1861A>T (n.1869+1861A>T) c.3715A>T (p.Lys1239Ter) c.3727A>T (p.Lys1243Ter) c.3700A>T (p.Lys1234Ter) c.3646A>T (p.Lys1216Ter) c.3046A>T (p.Lys1016Ter) c.3994A>T (p.Lys1332Ter) c.3991A>T (p.Lys1331Ter) c.3910A>T (p.Lys1304Ter) c.3841A>T (p.Lys1281Ter) c.3709A>T (p.Lys1237Ter) c.3577A>T (p.Lys1193Ter) | |
20 | g.32436443A>C | CA408563684 | ASXL1 | c.3731A>C (p.Lys1244Thr) c.3548A>C (p.Lys1183Thr) n.6084A>C c.1869+1862A>C (n.1869+1862A>C) c.3716A>C (p.Lys1239Thr) c.3728A>C (p.Lys1243Thr) c.3701A>C (p.Lys1234Thr) c.3647A>C (p.Lys1216Thr) c.3047A>C (p.Lys1016Thr) c.3995A>C (p.Lys1332Thr) c.3992A>C (p.Lys1331Thr) c.3911A>C (p.Lys1304Thr) c.3842A>C (p.Lys1281Thr) c.3710A>C (p.Lys1237Thr) c.3578A>C (p.Lys1193Thr) | |
20 | g.32436443A>G | CA408563685 | ASXL1 | c.3731A>G (p.Lys1244Arg) c.3548A>G (p.Lys1183Arg) n.6084A>G c.1869+1862A>G (n.1869+1862A>G) c.3716A>G (p.Lys1239Arg) c.3728A>G (p.Lys1243Arg) c.3701A>G (p.Lys1234Arg) c.3647A>G (p.Lys1216Arg) c.3047A>G (p.Lys1016Arg) c.3995A>G (p.Lys1332Arg) c.3992A>G (p.Lys1331Arg) c.3911A>G (p.Lys1304Arg) c.3842A>G (p.Lys1281Arg) c.3710A>G (p.Lys1237Arg) c.3578A>G (p.Lys1193Arg) | |
20 | g.32436443A>T | CA408563686 | ASXL1 | c.3731A>T (p.Lys1244Met) c.3548A>T (p.Lys1183Met) n.6084A>T c.1869+1862A>T (n.1869+1862A>T) c.3716A>T (p.Lys1239Met) c.3728A>T (p.Lys1243Met) c.3701A>T (p.Lys1234Met) c.3647A>T (p.Lys1216Met) c.3047A>T (p.Lys1016Met) c.3995A>T (p.Lys1332Met) c.3992A>T (p.Lys1331Met) c.3911A>T (p.Lys1304Met) c.3842A>T (p.Lys1281Met) c.3710A>T (p.Lys1237Met) c.3578A>T (p.Lys1193Met) | |
20 | g.32436444G>A | CA313926357 | ASXL1 | c.3732G>A (p.Lys1244=) c.3549G>A (p.Lys1183=) n.6085G>A c.1869+1863G>A (n.1869+1863G>A) c.3717G>A (p.Lys1239=) c.3729G>A (p.Lys1243=) c.3702G>A (p.Lys1234=) c.3648G>A (p.Lys1216=) c.3048G>A (p.Lys1016=) c.3996G>A (p.Lys1332=) c.3993G>A (p.Lys1331=) c.3912G>A (p.Lys1304=) c.3843G>A (p.Lys1281=) c.3711G>A (p.Lys1237=) c.3579G>A (p.Lys1193=) | dbSNP gnomAD v4 |
20 | g.32436444G>C | CA408563687 | ASXL1 | c.3732G>C (p.Lys1244Asn) c.3549G>C (p.Lys1183Asn) n.6085G>C c.1869+1863G>C (n.1869+1863G>C) c.3717G>C (p.Lys1239Asn) c.3729G>C (p.Lys1243Asn) c.3702G>C (p.Lys1234Asn) c.3648G>C (p.Lys1216Asn) c.3048G>C (p.Lys1016Asn) c.3996G>C (p.Lys1332Asn) c.3993G>C (p.Lys1331Asn) c.3912G>C (p.Lys1304Asn) c.3843G>C (p.Lys1281Asn) c.3711G>C (p.Lys1237Asn) c.3579G>C (p.Lys1193Asn) | |
20 | g.32436444G= | CA2360293703 | ASXL1 | c.3732G= (p.Lys1244=) c.3549G= (p.Lys1183=) n.6085G= c.1869+1863G= (n.1869+1863G=) c.3717G= (p.Lys1239=) c.3729G= (p.Lys1243=) c.3702G= (p.Lys1234=) c.3648G= (p.Lys1216=) c.3048G= (p.Lys1016=) c.3996G= (p.Lys1332=) c.3993G= (p.Lys1331=) c.3912G= (p.Lys1304=) c.3843G= (p.Lys1281=) c.3711G= (p.Lys1237=) c.3579G= (p.Lys1193=) | |
20 | g.32436444G>T | CA408563688 | ASXL1 | c.3732G>T (p.Lys1244Asn) c.3549G>T (p.Lys1183Asn) n.6085G>T c.1869+1863G>T (n.1869+1863G>T) c.3717G>T (p.Lys1239Asn) c.3729G>T (p.Lys1243Asn) c.3702G>T (p.Lys1234Asn) c.3648G>T (p.Lys1216Asn) c.3048G>T (p.Lys1016Asn) c.3996G>T (p.Lys1332Asn) c.3993G>T (p.Lys1331Asn) c.3912G>T (p.Lys1304Asn) c.3843G>T (p.Lys1281Asn) c.3711G>T (p.Lys1237Asn) c.3579G>T (p.Lys1193Asn) | |
20 | g.32436445G>A | CA408563689 | ASXL1 | c.3733G>A (p.Glu1245Lys) c.3550G>A (p.Glu1184Lys) n.6086G>A c.1869+1864G>A (n.1869+1864G>A) c.3718G>A (p.Glu1240Lys) c.3730G>A (p.Glu1244Lys) c.3703G>A (p.Glu1235Lys) c.3649G>A (p.Glu1217Lys) c.3049G>A (p.Glu1017Lys) c.3997G>A (p.Glu1333Lys) c.3994G>A (p.Glu1332Lys) c.3913G>A (p.Glu1305Lys) c.3844G>A (p.Glu1282Lys) c.3712G>A (p.Glu1238Lys) c.3580G>A (p.Glu1194Lys) | |
20 | g.32436445G>C | CA408563690 | ASXL1 | c.3733G>C (p.Glu1245Gln) c.3550G>C (p.Glu1184Gln) n.6086G>C c.1869+1864G>C (n.1869+1864G>C) c.3718G>C (p.Glu1240Gln) c.3730G>C (p.Glu1244Gln) c.3703G>C (p.Glu1235Gln) c.3649G>C (p.Glu1217Gln) c.3049G>C (p.Glu1017Gln) c.3997G>C (p.Glu1333Gln) c.3994G>C (p.Glu1332Gln) c.3913G>C (p.Glu1305Gln) c.3844G>C (p.Glu1282Gln) c.3712G>C (p.Glu1238Gln) c.3580G>C (p.Glu1194Gln) | dbSNP |
20 | g.32436445G>T | CA408563691 | ASXL1 | c.3733G>T (p.Glu1245Ter) c.3550G>T (p.Glu1184Ter) n.6086G>T c.1869+1864G>T (n.1869+1864G>T) c.3718G>T (p.Glu1240Ter) c.3730G>T (p.Glu1244Ter) c.3703G>T (p.Glu1235Ter) c.3649G>T (p.Glu1217Ter) c.3049G>T (p.Glu1017Ter) c.3997G>T (p.Glu1333Ter) c.3994G>T (p.Glu1332Ter) c.3913G>T (p.Glu1305Ter) c.3844G>T (p.Glu1282Ter) c.3712G>T (p.Glu1238Ter) c.3580G>T (p.Glu1194Ter) | |
20 | g.32436446A>C | CA408563692 | ASXL1 | c.3734A>C (p.Glu1245Ala) c.3551A>C (p.Glu1184Ala) n.6087A>C c.1869+1865A>C (n.1869+1865A>C) c.3719A>C (p.Glu1240Ala) c.3731A>C (p.Glu1244Ala) c.3704A>C (p.Glu1235Ala) c.3650A>C (p.Glu1217Ala) c.3050A>C (p.Glu1017Ala) c.3998A>C (p.Glu1333Ala) c.3995A>C (p.Glu1332Ala) c.3914A>C (p.Glu1305Ala) c.3845A>C (p.Glu1282Ala) c.3713A>C (p.Glu1238Ala) c.3581A>C (p.Glu1194Ala) | |
20 | g.32436446A>G | CA408563693 | ASXL1 | c.3734A>G (p.Glu1245Gly) c.3551A>G (p.Glu1184Gly) n.6087A>G c.1869+1865A>G (n.1869+1865A>G) c.3719A>G (p.Glu1240Gly) c.3731A>G (p.Glu1244Gly) c.3704A>G (p.Glu1235Gly) c.3650A>G (p.Glu1217Gly) c.3050A>G (p.Glu1017Gly) c.3998A>G (p.Glu1333Gly) c.3995A>G (p.Glu1332Gly) c.3914A>G (p.Glu1305Gly) c.3845A>G (p.Glu1282Gly) c.3713A>G (p.Glu1238Gly) c.3581A>G (p.Glu1194Gly) | |
20 | g.32436446A>T | CA408563694 | ASXL1 | c.3734A>T (p.Glu1245Val) c.3551A>T (p.Glu1184Val) n.6087A>T c.1869+1865A>T (n.1869+1865A>T) c.3719A>T (p.Glu1240Val) c.3731A>T (p.Glu1244Val) c.3704A>T (p.Glu1235Val) c.3650A>T (p.Glu1217Val) c.3050A>T (p.Glu1017Val) c.3998A>T (p.Glu1333Val) c.3995A>T (p.Glu1332Val) c.3914A>T (p.Glu1305Val) c.3845A>T (p.Glu1282Val) c.3713A>T (p.Glu1238Val) c.3581A>T (p.Glu1194Val) | |
20 | g.32436447A>C | CA408563696 | ASXL1 | c.3735A>C (p.Glu1245Asp) c.3552A>C (p.Glu1184Asp) n.6088A>C c.1869+1866A>C (n.1869+1866A>C) c.3720A>C (p.Glu1240Asp) c.3732A>C (p.Glu1244Asp) c.3705A>C (p.Glu1235Asp) c.3651A>C (p.Glu1217Asp) c.3051A>C (p.Glu1017Asp) c.3999A>C (p.Glu1333Asp) c.3996A>C (p.Glu1332Asp) c.3915A>C (p.Glu1305Asp) c.3846A>C (p.Glu1282Asp) c.3714A>C (p.Glu1238Asp) c.3582A>C (p.Glu1194Asp) | gnomAD v4 |
20 | g.32436447A>G | CA510467607 | ASXL1 | c.3735A>G (p.Glu1245=) c.3552A>G (p.Glu1184=) n.6088A>G c.1869+1866A>G (n.1869+1866A>G) c.3720A>G (p.Glu1240=) c.3732A>G (p.Glu1244=) c.3705A>G (p.Glu1235=) c.3651A>G (p.Glu1217=) c.3051A>G (p.Glu1017=) c.3999A>G (p.Glu1333=) c.3996A>G (p.Glu1332=) c.3915A>G (p.Glu1305=) c.3846A>G (p.Glu1282=) c.3714A>G (p.Glu1238=) c.3582A>G (p.Glu1194=) | gnomAD v4 |
20 | g.32436447A>T | CA408563695 | ASXL1 | c.3735A>T (p.Glu1245Asp) c.3552A>T (p.Glu1184Asp) n.6088A>T c.1869+1866A>T (n.1869+1866A>T) c.3720A>T (p.Glu1240Asp) c.3732A>T (p.Glu1244Asp) c.3705A>T (p.Glu1235Asp) c.3651A>T (p.Glu1217Asp) c.3051A>T (p.Glu1017Asp) c.3999A>T (p.Glu1333Asp) c.3996A>T (p.Glu1332Asp) c.3915A>T (p.Glu1305Asp) c.3846A>T (p.Glu1282Asp) c.3714A>T (p.Glu1238Asp) c.3582A>T (p.Glu1194Asp) | |
20 | g.32436448G>A | CA408563697 | ASXL1 | c.3736G>A (p.Val1246Ile) c.3553G>A (p.Val1185Ile) n.6089G>A c.1869+1867G>A (n.1869+1867G>A) c.3721G>A (p.Val1241Ile) c.3733G>A (p.Val1245Ile) c.3706G>A (p.Val1236Ile) c.3652G>A (p.Val1218Ile) c.3052G>A (p.Val1018Ile) c.4000G>A (p.Val1334Ile) c.3997G>A (p.Val1333Ile) c.3916G>A (p.Val1306Ile) c.3847G>A (p.Val1283Ile) c.3715G>A (p.Val1239Ile) c.3583G>A (p.Val1195Ile) | |
20 | g.32436448G>C | CA408563698 | ASXL1 | c.3736G>C (p.Val1246Leu) c.3553G>C (p.Val1185Leu) n.6089G>C c.1869+1867G>C (n.1869+1867G>C) c.3721G>C (p.Val1241Leu) c.3733G>C (p.Val1245Leu) c.3706G>C (p.Val1236Leu) c.3652G>C (p.Val1218Leu) c.3052G>C (p.Val1018Leu) c.4000G>C (p.Val1334Leu) c.3997G>C (p.Val1333Leu) c.3916G>C (p.Val1306Leu) c.3847G>C (p.Val1283Leu) c.3715G>C (p.Val1239Leu) c.3583G>C (p.Val1195Leu) | |
20 | g.32436448G>T | CA408563699 | ASXL1 | c.3736G>T (p.Val1246Phe) c.3553G>T (p.Val1185Phe) n.6089G>T c.1869+1867G>T (n.1869+1867G>T) c.3721G>T (p.Val1241Phe) c.3733G>T (p.Val1245Phe) c.3706G>T (p.Val1236Phe) c.3652G>T (p.Val1218Phe) c.3052G>T (p.Val1018Phe) c.4000G>T (p.Val1334Phe) c.3997G>T (p.Val1333Phe) c.3916G>T (p.Val1306Phe) c.3847G>T (p.Val1283Phe) c.3715G>T (p.Val1239Phe) c.3583G>T (p.Val1195Phe) | |
20 | g.32436449T>A | CA408563700 | ASXL1 | c.3737T>A (p.Val1246Asp) c.3554T>A (p.Val1185Asp) n.6090T>A c.1869+1868T>A (n.1869+1868T>A) c.3722T>A (p.Val1241Asp) c.3734T>A (p.Val1245Asp) c.3707T>A (p.Val1236Asp) c.3653T>A (p.Val1218Asp) c.3053T>A (p.Val1018Asp) c.4001T>A (p.Val1334Asp) c.3998T>A (p.Val1333Asp) c.3917T>A (p.Val1306Asp) c.3848T>A (p.Val1283Asp) c.3716T>A (p.Val1239Asp) c.3584T>A (p.Val1195Asp) | COSMIC |
20 | g.32436449T>C | CA408563701 | ASXL1 | c.3737T>C (p.Val1246Ala) c.3554T>C (p.Val1185Ala) n.6090T>C c.1869+1868T>C (n.1869+1868T>C) c.3722T>C (p.Val1241Ala) c.3734T>C (p.Val1245Ala) c.3707T>C (p.Val1236Ala) c.3653T>C (p.Val1218Ala) c.3053T>C (p.Val1018Ala) c.4001T>C (p.Val1334Ala) c.3998T>C (p.Val1333Ala) c.3917T>C (p.Val1306Ala) c.3848T>C (p.Val1283Ala) c.3716T>C (p.Val1239Ala) c.3584T>C (p.Val1195Ala) | |
20 | g.32436449T>G | CA408563702 | ASXL1 | c.3737T>G (p.Val1246Gly) c.3554T>G (p.Val1185Gly) n.6090T>G c.1869+1868T>G (n.1869+1868T>G) c.3722T>G (p.Val1241Gly) c.3734T>G (p.Val1245Gly) c.3707T>G (p.Val1236Gly) c.3653T>G (p.Val1218Gly) c.3053T>G (p.Val1018Gly) c.4001T>G (p.Val1334Gly) c.3998T>G (p.Val1333Gly) c.3917T>G (p.Val1306Gly) c.3848T>G (p.Val1283Gly) c.3716T>G (p.Val1239Gly) c.3584T>G (p.Val1195Gly) |