Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.32436530G>A | CA9808912 | ASXL1 | c.3818G>A (p.Arg1273His) c.3635G>A (p.Arg1212His) n.6171G>A c.1870-1900G>A (n.1870-1900G>A) c.3803G>A (p.Arg1268His) c.3815G>A (p.Arg1272His) c.3788G>A (p.Arg1263His) c.3734G>A (p.Arg1245His) c.3134G>A (p.Arg1045His) c.4082G>A (p.Arg1361His) c.4079G>A (p.Arg1360His) c.3998G>A (p.Arg1333His) c.3929G>A (p.Arg1310His) c.3797G>A (p.Arg1266His) c.3665G>A (p.Arg1222His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.32436530G>C | CA408563858 | ASXL1 | c.3818G>C (p.Arg1273Pro) c.3635G>C (p.Arg1212Pro) n.6171G>C c.1870-1900G>C (n.1870-1900G>C) c.3803G>C (p.Arg1268Pro) c.3815G>C (p.Arg1272Pro) c.3788G>C (p.Arg1263Pro) c.3734G>C (p.Arg1245Pro) c.3134G>C (p.Arg1045Pro) c.4082G>C (p.Arg1361Pro) c.4079G>C (p.Arg1360Pro) c.3998G>C (p.Arg1333Pro) c.3929G>C (p.Arg1310Pro) c.3797G>C (p.Arg1266Pro) c.3665G>C (p.Arg1222Pro) | dbSNP |
20 | g.32436530G= | CA2360293754 | ASXL1 | c.3818G= (p.Arg1273=) c.3635G= (p.Arg1212=) n.6171G= c.1870-1900G= (n.1870-1900G=) c.3803G= (p.Arg1268=) c.3815G= (p.Arg1272=) c.3788G= (p.Arg1263=) c.3734G= (p.Arg1245=) c.3134G= (p.Arg1045=) c.4082G= (p.Arg1361=) c.4079G= (p.Arg1360=) c.3998G= (p.Arg1333=) c.3929G= (p.Arg1310=) c.3797G= (p.Arg1266=) c.3665G= (p.Arg1222=) | |
20 | g.32436530G>T | CA408563859 | ASXL1 | c.3818G>T (p.Arg1273Leu) c.3635G>T (p.Arg1212Leu) n.6171G>T c.1870-1900G>T (n.1870-1900G>T) c.3803G>T (p.Arg1268Leu) c.3815G>T (p.Arg1272Leu) c.3788G>T (p.Arg1263Leu) c.3734G>T (p.Arg1245Leu) c.3134G>T (p.Arg1045Leu) c.4082G>T (p.Arg1361Leu) c.4079G>T (p.Arg1360Leu) c.3998G>T (p.Arg1333Leu) c.3929G>T (p.Arg1310Leu) c.3797G>T (p.Arg1266Leu) c.3665G>T (p.Arg1222Leu) | gnomAD v4 |
20 | g.32436531T>A | CA510467415 | ASXL1 | c.3819T>A (p.Arg1273=) c.3636T>A (p.Arg1212=) n.6172T>A c.1870-1899T>A (n.1870-1899T>A) c.3804T>A (p.Arg1268=) c.3816T>A (p.Arg1272=) c.3789T>A (p.Arg1263=) c.3735T>A (p.Arg1245=) c.3135T>A (p.Arg1045=) c.4083T>A (p.Arg1361=) c.4080T>A (p.Arg1360=) c.3999T>A (p.Arg1333=) c.3930T>A (p.Arg1310=) c.3798T>A (p.Arg1266=) c.3666T>A (p.Arg1222=) | |
20 | g.32436531T>C | CA510467413 | ASXL1 | c.3819T>C (p.Arg1273=) c.3636T>C (p.Arg1212=) n.6172T>C c.1870-1899T>C (n.1870-1899T>C) c.3804T>C (p.Arg1268=) c.3816T>C (p.Arg1272=) c.3789T>C (p.Arg1263=) c.3735T>C (p.Arg1245=) c.3135T>C (p.Arg1045=) c.4083T>C (p.Arg1361=) c.4080T>C (p.Arg1360=) c.3999T>C (p.Arg1333=) c.3930T>C (p.Arg1310=) c.3798T>C (p.Arg1266=) c.3666T>C (p.Arg1222=) | |
20 | g.32436531T>G | CA510467412 | ASXL1 | c.3819T>G (p.Arg1273=) c.3636T>G (p.Arg1212=) n.6172T>G c.1870-1899T>G (n.1870-1899T>G) c.3804T>G (p.Arg1268=) c.3816T>G (p.Arg1272=) c.3789T>G (p.Arg1263=) c.3735T>G (p.Arg1245=) c.3135T>G (p.Arg1045=) c.4083T>G (p.Arg1361=) c.4080T>G (p.Arg1360=) c.3999T>G (p.Arg1333=) c.3930T>G (p.Arg1310=) c.3798T>G (p.Arg1266=) c.3666T>G (p.Arg1222=) | |
20 | g.32436533del | CA2577366330 | ASXL1 | c.3821del (p.Phe1274SerfsTer6) c.3638del (p.Phe1213SerfsTer6) n.6174del c.1870-1897del (n.1870-1897del) c.3806del (p.Phe1269SerfsTer6) c.3818del (p.Phe1273SerfsTer6) c.3791del (p.Phe1264SerfsTer6) c.3737del (p.Phe1246SerfsTer6) c.3137del (p.Phe1046SerfsTer6) c.4085del (p.Phe1362SerfsTer6) c.4082del (p.Phe1361SerfsTer6) c.4001del (p.Phe1334SerfsTer6) c.3932del (p.Phe1311SerfsTer6) c.3800del (p.Phe1267SerfsTer6) c.3668del (p.Phe1223SerfsTer6) | |
20 | g.32436532T>A | CA408563860 | ASXL1 | c.3820T>A (p.Phe1274Ile) c.3637T>A (p.Phe1213Ile) n.6173T>A c.1870-1898T>A (n.1870-1898T>A) c.3805T>A (p.Phe1269Ile) c.3817T>A (p.Phe1273Ile) c.3790T>A (p.Phe1264Ile) c.3736T>A (p.Phe1246Ile) c.3136T>A (p.Phe1046Ile) c.4084T>A (p.Phe1362Ile) c.4081T>A (p.Phe1361Ile) c.4000T>A (p.Phe1334Ile) c.3931T>A (p.Phe1311Ile) c.3799T>A (p.Phe1267Ile) c.3667T>A (p.Phe1223Ile) | |
20 | g.32436532T>C | CA408563861 | ASXL1 | c.3820T>C (p.Phe1274Leu) c.3637T>C (p.Phe1213Leu) n.6173T>C c.1870-1898T>C (n.1870-1898T>C) c.3805T>C (p.Phe1269Leu) c.3817T>C (p.Phe1273Leu) c.3790T>C (p.Phe1264Leu) c.3736T>C (p.Phe1246Leu) c.3136T>C (p.Phe1046Leu) c.4084T>C (p.Phe1362Leu) c.4081T>C (p.Phe1361Leu) c.4000T>C (p.Phe1334Leu) c.3931T>C (p.Phe1311Leu) c.3799T>C (p.Phe1267Leu) c.3667T>C (p.Phe1223Leu) | |
20 | g.32436532T>G | CA408563862 | ASXL1 | c.3820T>G (p.Phe1274Val) c.3637T>G (p.Phe1213Val) n.6173T>G c.1870-1898T>G (n.1870-1898T>G) c.3805T>G (p.Phe1269Val) c.3817T>G (p.Phe1273Val) c.3790T>G (p.Phe1264Val) c.3736T>G (p.Phe1246Val) c.3136T>G (p.Phe1046Val) c.4084T>G (p.Phe1362Val) c.4081T>G (p.Phe1361Val) c.4000T>G (p.Phe1334Val) c.3931T>G (p.Phe1311Val) c.3799T>G (p.Phe1267Val) c.3667T>G (p.Phe1223Val) | |
20 | g.32436533T>A | CA408563863 | ASXL1 | c.3821T>A (p.Phe1274Tyr) c.3638T>A (p.Phe1213Tyr) n.6174T>A c.1870-1897T>A (n.1870-1897T>A) c.3806T>A (p.Phe1269Tyr) c.3818T>A (p.Phe1273Tyr) c.3791T>A (p.Phe1264Tyr) c.3737T>A (p.Phe1246Tyr) c.3137T>A (p.Phe1046Tyr) c.4085T>A (p.Phe1362Tyr) c.4082T>A (p.Phe1361Tyr) c.4001T>A (p.Phe1334Tyr) c.3932T>A (p.Phe1311Tyr) c.3800T>A (p.Phe1267Tyr) c.3668T>A (p.Phe1223Tyr) | |
20 | g.32436533T>C | CA408563864 | ASXL1 | c.3821T>C (p.Phe1274Ser) c.3638T>C (p.Phe1213Ser) n.6174T>C c.1870-1897T>C (n.1870-1897T>C) c.3806T>C (p.Phe1269Ser) c.3818T>C (p.Phe1273Ser) c.3791T>C (p.Phe1264Ser) c.3737T>C (p.Phe1246Ser) c.3137T>C (p.Phe1046Ser) c.4085T>C (p.Phe1362Ser) c.4082T>C (p.Phe1361Ser) c.4001T>C (p.Phe1334Ser) c.3932T>C (p.Phe1311Ser) c.3800T>C (p.Phe1267Ser) c.3668T>C (p.Phe1223Ser) | |
20 | g.32436533T>G | CA408563865 | ASXL1 | c.3821T>G (p.Phe1274Cys) c.3638T>G (p.Phe1213Cys) n.6174T>G c.1870-1897T>G (n.1870-1897T>G) c.3806T>G (p.Phe1269Cys) c.3818T>G (p.Phe1273Cys) c.3791T>G (p.Phe1264Cys) c.3737T>G (p.Phe1246Cys) c.3137T>G (p.Phe1046Cys) c.4085T>G (p.Phe1362Cys) c.4082T>G (p.Phe1361Cys) c.4001T>G (p.Phe1334Cys) c.3932T>G (p.Phe1311Cys) c.3800T>G (p.Phe1267Cys) c.3668T>G (p.Phe1223Cys) | |
20 | g.32436534C>A | CA408563866 | ASXL1 | c.3822C>A (p.Phe1274Leu) c.3639C>A (p.Phe1213Leu) n.6175C>A c.1870-1896C>A (n.1870-1896C>A) c.3807C>A (p.Phe1269Leu) c.3819C>A (p.Phe1273Leu) c.3792C>A (p.Phe1264Leu) c.3738C>A (p.Phe1246Leu) c.3138C>A (p.Phe1046Leu) c.4086C>A (p.Phe1362Leu) c.4083C>A (p.Phe1361Leu) c.4002C>A (p.Phe1334Leu) c.3933C>A (p.Phe1311Leu) c.3801C>A (p.Phe1267Leu) c.3669C>A (p.Phe1223Leu) | dbSNP |
20 | g.32436534C= | CA2360293755 | ASXL1 | c.3822C= (p.Phe1274=) c.3639C= (p.Phe1213=) n.6175C= c.1870-1896C= (n.1870-1896C=) c.3807C= (p.Phe1269=) c.3819C= (p.Phe1273=) c.3792C= (p.Phe1264=) c.3738C= (p.Phe1246=) c.3138C= (p.Phe1046=) c.4086C= (p.Phe1362=) c.4083C= (p.Phe1361=) c.4002C= (p.Phe1334=) c.3933C= (p.Phe1311=) c.3801C= (p.Phe1267=) c.3669C= (p.Phe1223=) | |
20 | g.32436534C>G | CA408563867 | ASXL1 | c.3822C>G (p.Phe1274Leu) c.3639C>G (p.Phe1213Leu) n.6175C>G c.1870-1896C>G (n.1870-1896C>G) c.3807C>G (p.Phe1269Leu) c.3819C>G (p.Phe1273Leu) c.3792C>G (p.Phe1264Leu) c.3738C>G (p.Phe1246Leu) c.3138C>G (p.Phe1046Leu) c.4086C>G (p.Phe1362Leu) c.4083C>G (p.Phe1361Leu) c.4002C>G (p.Phe1334Leu) c.3933C>G (p.Phe1311Leu) c.3801C>G (p.Phe1267Leu) c.3669C>G (p.Phe1223Leu) | |
20 | g.32436534C>T | CA510467419 | ASXL1 | c.3822C>T (p.Phe1274=) c.3639C>T (p.Phe1213=) n.6175C>T c.1870-1896C>T (n.1870-1896C>T) c.3807C>T (p.Phe1269=) c.3819C>T (p.Phe1273=) c.3792C>T (p.Phe1264=) c.3738C>T (p.Phe1246=) c.3138C>T (p.Phe1046=) c.4086C>T (p.Phe1362=) c.4083C>T (p.Phe1361=) c.4002C>T (p.Phe1334=) c.3933C>T (p.Phe1311=) c.3801C>T (p.Phe1267=) c.3669C>T (p.Phe1223=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436535T>A | CA408563868 | ASXL1 | c.3823T>A (p.Ser1275Thr) c.3640T>A (p.Ser1214Thr) n.6176T>A c.1870-1895T>A (n.1870-1895T>A) c.3808T>A (p.Ser1270Thr) c.3820T>A (p.Ser1274Thr) c.3793T>A (p.Ser1265Thr) c.3739T>A (p.Ser1247Thr) c.3139T>A (p.Ser1047Thr) c.4087T>A (p.Ser1363Thr) c.4084T>A (p.Ser1362Thr) c.4003T>A (p.Ser1335Thr) c.3934T>A (p.Ser1312Thr) c.3802T>A (p.Ser1268Thr) c.3670T>A (p.Ser1224Thr) | |
20 | g.32436535T>C | CA408563869 | ASXL1 | c.3823T>C (p.Ser1275Pro) c.3640T>C (p.Ser1214Pro) n.6176T>C c.1870-1895T>C (n.1870-1895T>C) c.3808T>C (p.Ser1270Pro) c.3820T>C (p.Ser1274Pro) c.3793T>C (p.Ser1265Pro) c.3739T>C (p.Ser1247Pro) c.3139T>C (p.Ser1047Pro) c.4087T>C (p.Ser1363Pro) c.4084T>C (p.Ser1362Pro) c.4003T>C (p.Ser1335Pro) c.3934T>C (p.Ser1312Pro) c.3802T>C (p.Ser1268Pro) c.3670T>C (p.Ser1224Pro) | gnomAD v4 |
20 | g.32436535T>G | CA408563870 | ASXL1 | c.3823T>G (p.Ser1275Ala) c.3640T>G (p.Ser1214Ala) n.6176T>G c.1870-1895T>G (n.1870-1895T>G) c.3808T>G (p.Ser1270Ala) c.3820T>G (p.Ser1274Ala) c.3793T>G (p.Ser1265Ala) c.3739T>G (p.Ser1247Ala) c.3139T>G (p.Ser1047Ala) c.4087T>G (p.Ser1363Ala) c.4084T>G (p.Ser1362Ala) c.4003T>G (p.Ser1335Ala) c.3934T>G (p.Ser1312Ala) c.3802T>G (p.Ser1268Ala) c.3670T>G (p.Ser1224Ala) | |
20 | g.32436536C>A | CA408563873 | ASXL1 | c.3824C>A (p.Ser1275Ter) c.3641C>A (p.Ser1214Ter) n.6177C>A c.1870-1894C>A (n.1870-1894C>A) c.3809C>A (p.Ser1270Ter) c.3821C>A (p.Ser1274Ter) c.3794C>A (p.Ser1265Ter) c.3740C>A (p.Ser1247Ter) c.3140C>A (p.Ser1047Ter) c.4088C>A (p.Ser1363Ter) c.4085C>A (p.Ser1362Ter) c.4004C>A (p.Ser1335Ter) c.3935C>A (p.Ser1312Ter) c.3803C>A (p.Ser1268Ter) c.3671C>A (p.Ser1224Ter) | |
20 | g.32436536C>G | CA408563872 | ASXL1 | c.3824C>G (p.Ser1275Ter) c.3641C>G (p.Ser1214Ter) n.6177C>G c.1870-1894C>G (n.1870-1894C>G) c.3809C>G (p.Ser1270Ter) c.3821C>G (p.Ser1274Ter) c.3794C>G (p.Ser1265Ter) c.3740C>G (p.Ser1247Ter) c.3140C>G (p.Ser1047Ter) c.4088C>G (p.Ser1363Ter) c.4085C>G (p.Ser1362Ter) c.4004C>G (p.Ser1335Ter) c.3935C>G (p.Ser1312Ter) c.3803C>G (p.Ser1268Ter) c.3671C>G (p.Ser1224Ter) | gnomAD v4 COSMIC |
20 | g.32436536C>T | CA408563871 | ASXL1 | c.3824C>T (p.Ser1275Leu) c.3641C>T (p.Ser1214Leu) n.6177C>T c.1870-1894C>T (n.1870-1894C>T) c.3809C>T (p.Ser1270Leu) c.3821C>T (p.Ser1274Leu) c.3794C>T (p.Ser1265Leu) c.3740C>T (p.Ser1247Leu) c.3140C>T (p.Ser1047Leu) c.4088C>T (p.Ser1363Leu) c.4085C>T (p.Ser1362Leu) c.4004C>T (p.Ser1335Leu) c.3935C>T (p.Ser1312Leu) c.3803C>T (p.Ser1268Leu) c.3671C>T (p.Ser1224Leu) | gnomAD v4 |
20 | g.32436537A>C | CA510467422 | ASXL1 | c.3825A>C (p.Ser1275=) c.3642A>C (p.Ser1214=) n.6178A>C c.1870-1893A>C (n.1870-1893A>C) c.3810A>C (p.Ser1270=) c.3822A>C (p.Ser1274=) c.3795A>C (p.Ser1265=) c.3741A>C (p.Ser1247=) c.3141A>C (p.Ser1047=) c.4089A>C (p.Ser1363=) c.4086A>C (p.Ser1362=) c.4005A>C (p.Ser1335=) c.3936A>C (p.Ser1312=) c.3804A>C (p.Ser1268=) c.3672A>C (p.Ser1224=) | |
20 | g.32436537A>G | CA510467423 | ASXL1 | c.3825A>G (p.Ser1275=) c.3642A>G (p.Ser1214=) n.6178A>G c.1870-1893A>G (n.1870-1893A>G) c.3810A>G (p.Ser1270=) c.3822A>G (p.Ser1274=) c.3795A>G (p.Ser1265=) c.3741A>G (p.Ser1247=) c.3141A>G (p.Ser1047=) c.4089A>G (p.Ser1363=) c.4086A>G (p.Ser1362=) c.4005A>G (p.Ser1335=) c.3936A>G (p.Ser1312=) c.3804A>G (p.Ser1268=) c.3672A>G (p.Ser1224=) | |
20 | g.32436537A>T | CA510467424 | ASXL1 | c.3825A>T (p.Ser1275=) c.3642A>T (p.Ser1214=) n.6178A>T c.1870-1893A>T (n.1870-1893A>T) c.3810A>T (p.Ser1270=) c.3822A>T (p.Ser1274=) c.3795A>T (p.Ser1265=) c.3741A>T (p.Ser1247=) c.3141A>T (p.Ser1047=) c.4089A>T (p.Ser1363=) c.4086A>T (p.Ser1362=) c.4005A>T (p.Ser1335=) c.3936A>T (p.Ser1312=) c.3804A>T (p.Ser1268=) c.3672A>T (p.Ser1224=) | dbSNP |
20 | g.32436538T>A | CA408563876 | ASXL1 | c.3826T>A (p.Ser1276Thr) c.3643T>A (p.Ser1215Thr) n.6179T>A c.1870-1892T>A (n.1870-1892T>A) c.3811T>A (p.Ser1271Thr) c.3823T>A (p.Ser1275Thr) c.3796T>A (p.Ser1266Thr) c.3742T>A (p.Ser1248Thr) c.3142T>A (p.Ser1048Thr) c.4090T>A (p.Ser1364Thr) c.4087T>A (p.Ser1363Thr) c.4006T>A (p.Ser1336Thr) c.3937T>A (p.Ser1313Thr) c.3805T>A (p.Ser1269Thr) c.3673T>A (p.Ser1225Thr) | |
20 | g.32436538T>C | CA408563874 | ASXL1 | c.3826T>C (p.Ser1276Pro) c.3643T>C (p.Ser1215Pro) n.6179T>C c.1870-1892T>C (n.1870-1892T>C) c.3811T>C (p.Ser1271Pro) c.3823T>C (p.Ser1275Pro) c.3796T>C (p.Ser1266Pro) c.3742T>C (p.Ser1248Pro) c.3142T>C (p.Ser1048Pro) c.4090T>C (p.Ser1364Pro) c.4087T>C (p.Ser1363Pro) c.4006T>C (p.Ser1336Pro) c.3937T>C (p.Ser1313Pro) c.3805T>C (p.Ser1269Pro) c.3673T>C (p.Ser1225Pro) | gnomAD v4 |
20 | g.32436538T>G | CA408563875 | ASXL1 | c.3826T>G (p.Ser1276Ala) c.3643T>G (p.Ser1215Ala) n.6179T>G c.1870-1892T>G (n.1870-1892T>G) c.3811T>G (p.Ser1271Ala) c.3823T>G (p.Ser1275Ala) c.3796T>G (p.Ser1266Ala) c.3742T>G (p.Ser1248Ala) c.3142T>G (p.Ser1048Ala) c.4090T>G (p.Ser1364Ala) c.4087T>G (p.Ser1363Ala) c.4006T>G (p.Ser1336Ala) c.3937T>G (p.Ser1313Ala) c.3805T>G (p.Ser1269Ala) c.3673T>G (p.Ser1225Ala) | |
20 | g.32436538_32436541delinsTCTC | CA2360293756 | ASXL1 | c.3826_3829delinsTCTC (p.Ser1276=) c.3643_3646delinsTCTC (p.Ser1215=) n.6179_6182delinsTCTC c.1870-1892_1870-1889delinsTCTC (n.1870-1892_1870-1889delinsTCTC) c.3811_3814delinsTCTC (p.Ser1271=) c.3823_3826delinsTCTC (p.Ser1275=) c.3796_3799delinsTCTC (p.Ser1266=) c.3742_3745delinsTCTC (p.Ser1248=) c.3142_3145delinsTCTC (p.Ser1048=) c.4090_4093delinsTCTC (p.Ser1364=) c.4087_4090delinsTCTC (p.Ser1363=) c.4006_4009delinsTCTC (p.Ser1336=) c.3937_3940delinsTCTC (p.Ser1313=) c.3805_3808delinsTCTC (p.Ser1269=) c.3673_3676delinsTCTC (p.Ser1225=) | |
20 | g.32436540_32436541dup | CA2771199434 | ASXL1 | c.3828_3829dup (p.Pro1277LeufsTer4) c.3645_3646dup (p.Pro1216LeufsTer4) n.6181_6182dup c.1870-1890_1870-1889dup (n.1870-1890_1870-1889dup) c.3813_3814dup (p.Pro1272LeufsTer4) c.3825_3826dup (p.Pro1276LeufsTer4) c.3798_3799dup (p.Pro1267LeufsTer4) c.3744_3745dup (p.Pro1249LeufsTer4) c.3144_3145dup (p.Pro1049LeufsTer4) c.4092_4093dup (p.Pro1365LeufsTer4) c.4089_4090dup (p.Pro1364LeufsTer4) c.4008_4009dup (p.Pro1337LeufsTer4) c.3939_3940dup (p.Pro1314LeufsTer4) c.3807_3808dup (p.Pro1270LeufsTer4) c.3675_3676dup (p.Pro1226LeufsTer4) | |
20 | g.32436539C>A | CA408563877 | ASXL1 | c.3827C>A (p.Ser1276Tyr) c.3644C>A (p.Ser1215Tyr) n.6180C>A c.1870-1891C>A (n.1870-1891C>A) c.3812C>A (p.Ser1271Tyr) c.3824C>A (p.Ser1275Tyr) c.3797C>A (p.Ser1266Tyr) c.3743C>A (p.Ser1248Tyr) c.3143C>A (p.Ser1048Tyr) c.4091C>A (p.Ser1364Tyr) c.4088C>A (p.Ser1363Tyr) c.4007C>A (p.Ser1336Tyr) c.3938C>A (p.Ser1313Tyr) c.3806C>A (p.Ser1269Tyr) c.3674C>A (p.Ser1225Tyr) | dbSNP |
20 | g.32436539C= | CA2360293757 | ASXL1 | c.3827C= (p.Ser1276=) c.3644C= (p.Ser1215=) n.6180C= c.1870-1891C= (n.1870-1891C=) c.3812C= (p.Ser1271=) c.3824C= (p.Ser1275=) c.3797C= (p.Ser1266=) c.3743C= (p.Ser1248=) c.3143C= (p.Ser1048=) c.4091C= (p.Ser1364=) c.4088C= (p.Ser1363=) c.4007C= (p.Ser1336=) c.3938C= (p.Ser1313=) c.3806C= (p.Ser1269=) c.3674C= (p.Ser1225=) | |
20 | g.32436539C>G | CA408563878 | ASXL1 | c.3827C>G (p.Ser1276Cys) c.3644C>G (p.Ser1215Cys) n.6180C>G c.1870-1891C>G (n.1870-1891C>G) c.3812C>G (p.Ser1271Cys) c.3824C>G (p.Ser1275Cys) c.3797C>G (p.Ser1266Cys) c.3743C>G (p.Ser1248Cys) c.3143C>G (p.Ser1048Cys) c.4091C>G (p.Ser1364Cys) c.4088C>G (p.Ser1363Cys) c.4007C>G (p.Ser1336Cys) c.3938C>G (p.Ser1313Cys) c.3806C>G (p.Ser1269Cys) c.3674C>G (p.Ser1225Cys) | dbSNP gnomAD v4 |
20 | g.32436539C>T | CA9808913 | ASXL1 | c.3827C>T (p.Ser1276Phe) c.3644C>T (p.Ser1215Phe) n.6180C>T c.1870-1891C>T (n.1870-1891C>T) c.3812C>T (p.Ser1271Phe) c.3824C>T (p.Ser1275Phe) c.3797C>T (p.Ser1266Phe) c.3743C>T (p.Ser1248Phe) c.3143C>T (p.Ser1048Phe) c.4091C>T (p.Ser1364Phe) c.4088C>T (p.Ser1363Phe) c.4007C>T (p.Ser1336Phe) c.3938C>T (p.Ser1313Phe) c.3806C>T (p.Ser1269Phe) c.3674C>T (p.Ser1225Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.32436540_32436542del | CA635268568 | ASXL1 | c.3828_3830del (p.Pro1277del) c.3645_3647del (p.Pro1216del) n.6181_6183del c.1870-1890_1870-1888del (n.1870-1890_1870-1888del) c.3813_3815del (p.Pro1272del) c.3825_3827del (p.Pro1276del) c.3798_3800del (p.Pro1267del) c.3744_3746del (p.Pro1249del) c.3144_3146del (p.Pro1049del) c.4092_4094del (p.Pro1365del) c.4089_4091del (p.Pro1364del) c.4008_4010del (p.Pro1337del) c.3939_3941del (p.Pro1314del) c.3807_3809del (p.Pro1270del) c.3675_3677del (p.Pro1226del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436540del | CA510467428 | ASXL1 | c.3828del (p.Pro1277GlnfsTer3) c.3645del (p.Pro1216GlnfsTer3) n.6181del c.1870-1890del (n.1870-1890del) c.3813del (p.Pro1272GlnfsTer3) c.3825del (p.Pro1276GlnfsTer3) c.3798del (p.Pro1267GlnfsTer3) c.3744del (p.Pro1249GlnfsTer3) c.3144del (p.Pro1049GlnfsTer3) c.4092del (p.Pro1365GlnfsTer3) c.4089del (p.Pro1364GlnfsTer3) c.4008del (p.Pro1337GlnfsTer3) c.3939del (p.Pro1314GlnfsTer3) c.3807del (p.Pro1270GlnfsTer3) c.3675del (p.Pro1226GlnfsTer3) | COSMIC |
20 | g.32436540T>A | CA510467425 | ASXL1 | c.3828T>A (p.Ser1276=) c.3645T>A (p.Ser1215=) n.6181T>A c.1870-1890T>A (n.1870-1890T>A) c.3813T>A (p.Ser1271=) c.3825T>A (p.Ser1275=) c.3798T>A (p.Ser1266=) c.3744T>A (p.Ser1248=) c.3144T>A (p.Ser1048=) c.4092T>A (p.Ser1364=) c.4089T>A (p.Ser1363=) c.4008T>A (p.Ser1336=) c.3939T>A (p.Ser1313=) c.3807T>A (p.Ser1269=) c.3675T>A (p.Ser1225=) | dbSNP |
20 | g.32436540T>C | CA510467426 | ASXL1 | c.3828T>C (p.Ser1276=) c.3645T>C (p.Ser1215=) n.6181T>C c.1870-1890T>C (n.1870-1890T>C) c.3813T>C (p.Ser1271=) c.3825T>C (p.Ser1275=) c.3798T>C (p.Ser1266=) c.3744T>C (p.Ser1248=) c.3144T>C (p.Ser1048=) c.4092T>C (p.Ser1364=) c.4089T>C (p.Ser1363=) c.4008T>C (p.Ser1336=) c.3939T>C (p.Ser1313=) c.3807T>C (p.Ser1269=) c.3675T>C (p.Ser1225=) | |
20 | g.32436540T>G | CA510467427 | ASXL1 | c.3828T>G (p.Ser1276=) c.3645T>G (p.Ser1215=) n.6181T>G c.1870-1890T>G (n.1870-1890T>G) c.3813T>G (p.Ser1271=) c.3825T>G (p.Ser1275=) c.3798T>G (p.Ser1266=) c.3744T>G (p.Ser1248=) c.3144T>G (p.Ser1048=) c.4092T>G (p.Ser1364=) c.4089T>G (p.Ser1363=) c.4008T>G (p.Ser1336=) c.3939T>G (p.Ser1313=) c.3807T>G (p.Ser1269=) c.3675T>G (p.Ser1225=) | |
20 | g.32436541C>A | CA408563881 | ASXL1 | c.3829C>A (p.Pro1277Thr) c.3646C>A (p.Pro1216Thr) n.6182C>A c.1870-1889C>A (n.1870-1889C>A) c.3814C>A (p.Pro1272Thr) c.3826C>A (p.Pro1276Thr) c.3799C>A (p.Pro1267Thr) c.3745C>A (p.Pro1249Thr) c.3145C>A (p.Pro1049Thr) c.4093C>A (p.Pro1365Thr) c.4090C>A (p.Pro1364Thr) c.4009C>A (p.Pro1337Thr) c.3940C>A (p.Pro1314Thr) c.3808C>A (p.Pro1270Thr) c.3676C>A (p.Pro1226Thr) | |
20 | g.32436541C>G | CA408563880 | ASXL1 | c.3829C>G (p.Pro1277Ala) c.3646C>G (p.Pro1216Ala) n.6182C>G c.1870-1889C>G (n.1870-1889C>G) c.3814C>G (p.Pro1272Ala) c.3826C>G (p.Pro1276Ala) c.3799C>G (p.Pro1267Ala) c.3745C>G (p.Pro1249Ala) c.3145C>G (p.Pro1049Ala) c.4093C>G (p.Pro1365Ala) c.4090C>G (p.Pro1364Ala) c.4009C>G (p.Pro1337Ala) c.3940C>G (p.Pro1314Ala) c.3808C>G (p.Pro1270Ala) c.3676C>G (p.Pro1226Ala) | |
20 | g.32436541C>T | CA408563879 | ASXL1 | c.3829C>T (p.Pro1277Ser) c.3646C>T (p.Pro1216Ser) n.6182C>T c.1870-1889C>T (n.1870-1889C>T) c.3814C>T (p.Pro1272Ser) c.3826C>T (p.Pro1276Ser) c.3799C>T (p.Pro1267Ser) c.3745C>T (p.Pro1249Ser) c.3145C>T (p.Pro1049Ser) c.4093C>T (p.Pro1365Ser) c.4090C>T (p.Pro1364Ser) c.4009C>T (p.Pro1337Ser) c.3940C>T (p.Pro1314Ser) c.3808C>T (p.Pro1270Ser) c.3676C>T (p.Pro1226Ser) | dbSNP gnomAD v4 |
20 | g.32436542C>A | CA408563882 | ASXL1 | c.3830C>A (p.Pro1277Gln) c.3647C>A (p.Pro1216Gln) n.6183C>A c.1870-1888C>A (n.1870-1888C>A) c.3815C>A (p.Pro1272Gln) c.3827C>A (p.Pro1276Gln) c.3800C>A (p.Pro1267Gln) c.3746C>A (p.Pro1249Gln) c.3146C>A (p.Pro1049Gln) c.4094C>A (p.Pro1365Gln) c.4091C>A (p.Pro1364Gln) c.4010C>A (p.Pro1337Gln) c.3941C>A (p.Pro1314Gln) c.3809C>A (p.Pro1270Gln) c.3677C>A (p.Pro1226Gln) | |
20 | g.32436542C= | CA2360293758 | ASXL1 | c.3830C= (p.Pro1277=) c.3647C= (p.Pro1216=) n.6183C= c.1870-1888C= (n.1870-1888C=) c.3815C= (p.Pro1272=) c.3827C= (p.Pro1276=) c.3800C= (p.Pro1267=) c.3746C= (p.Pro1249=) c.3146C= (p.Pro1049=) c.4094C= (p.Pro1365=) c.4091C= (p.Pro1364=) c.4010C= (p.Pro1337=) c.3941C= (p.Pro1314=) c.3809C= (p.Pro1270=) c.3677C= (p.Pro1226=) | |
20 | g.32436542C>G | CA408563883 | ASXL1 | c.3830C>G (p.Pro1277Arg) c.3647C>G (p.Pro1216Arg) n.6183C>G c.1870-1888C>G (n.1870-1888C>G) c.3815C>G (p.Pro1272Arg) c.3827C>G (p.Pro1276Arg) c.3800C>G (p.Pro1267Arg) c.3746C>G (p.Pro1249Arg) c.3146C>G (p.Pro1049Arg) c.4094C>G (p.Pro1365Arg) c.4091C>G (p.Pro1364Arg) c.4010C>G (p.Pro1337Arg) c.3941C>G (p.Pro1314Arg) c.3809C>G (p.Pro1270Arg) c.3677C>G (p.Pro1226Arg) | |
20 | g.32436542C>T | CA408563884 | ASXL1 | c.3830C>T (p.Pro1277Leu) c.3647C>T (p.Pro1216Leu) n.6183C>T c.1870-1888C>T (n.1870-1888C>T) c.3815C>T (p.Pro1272Leu) c.3827C>T (p.Pro1276Leu) c.3800C>T (p.Pro1267Leu) c.3746C>T (p.Pro1249Leu) c.3146C>T (p.Pro1049Leu) c.4094C>T (p.Pro1365Leu) c.4091C>T (p.Pro1364Leu) c.4010C>T (p.Pro1337Leu) c.3941C>T (p.Pro1314Leu) c.3809C>T (p.Pro1270Leu) c.3677C>T (p.Pro1226Leu) | dbSNP |
20 | g.32436543A>C | CA510467429 | ASXL1 | c.3831A>C (p.Pro1277=) c.3648A>C (p.Pro1216=) n.6184A>C c.1870-1887A>C (n.1870-1887A>C) c.3816A>C (p.Pro1272=) c.3828A>C (p.Pro1276=) c.3801A>C (p.Pro1267=) c.3747A>C (p.Pro1249=) c.3147A>C (p.Pro1049=) c.4095A>C (p.Pro1365=) c.4092A>C (p.Pro1364=) c.4011A>C (p.Pro1337=) c.3942A>C (p.Pro1314=) c.3810A>C (p.Pro1270=) c.3678A>C (p.Pro1226=) | |
20 | g.32436543A>G | CA510467430 | ASXL1 | c.3831A>G (p.Pro1277=) c.3648A>G (p.Pro1216=) n.6184A>G c.1870-1887A>G (n.1870-1887A>G) c.3816A>G (p.Pro1272=) c.3828A>G (p.Pro1276=) c.3801A>G (p.Pro1267=) c.3747A>G (p.Pro1249=) c.3147A>G (p.Pro1049=) c.4095A>G (p.Pro1365=) c.4092A>G (p.Pro1364=) c.4011A>G (p.Pro1337=) c.3942A>G (p.Pro1314=) c.3810A>G (p.Pro1270=) c.3678A>G (p.Pro1226=) | |
20 | g.32436543A>T | CA510467431 | ASXL1 | c.3831A>T (p.Pro1277=) c.3648A>T (p.Pro1216=) n.6184A>T c.1870-1887A>T (n.1870-1887A>T) c.3816A>T (p.Pro1272=) c.3828A>T (p.Pro1276=) c.3801A>T (p.Pro1267=) c.3747A>T (p.Pro1249=) c.3147A>T (p.Pro1049=) c.4095A>T (p.Pro1365=) c.4092A>T (p.Pro1364=) c.4011A>T (p.Pro1337=) c.3942A>T (p.Pro1314=) c.3810A>T (p.Pro1270=) c.3678A>T (p.Pro1226=) | |
20 | g.32436544A>C | CA408563885 | ASXL1 | c.3832A>C (p.Asn1278His) c.3649A>C (p.Asn1217His) n.6185A>C c.1870-1886A>C (n.1870-1886A>C) c.3817A>C (p.Asn1273His) c.3829A>C (p.Asn1277His) c.3802A>C (p.Asn1268His) c.3748A>C (p.Asn1250His) c.3148A>C (p.Asn1050His) c.4096A>C (p.Asn1366His) c.4093A>C (p.Asn1365His) c.4012A>C (p.Asn1338His) c.3943A>C (p.Asn1315His) c.3811A>C (p.Asn1271His) c.3679A>C (p.Asn1227His) | |
20 | g.32436544A>G | CA408563886 | ASXL1 | c.3832A>G (p.Asn1278Asp) c.3649A>G (p.Asn1217Asp) n.6185A>G c.1870-1886A>G (n.1870-1886A>G) c.3817A>G (p.Asn1273Asp) c.3829A>G (p.Asn1277Asp) c.3802A>G (p.Asn1268Asp) c.3748A>G (p.Asn1250Asp) c.3148A>G (p.Asn1050Asp) c.4096A>G (p.Asn1366Asp) c.4093A>G (p.Asn1365Asp) c.4012A>G (p.Asn1338Asp) c.3943A>G (p.Asn1315Asp) c.3811A>G (p.Asn1271Asp) c.3679A>G (p.Asn1227Asp) | gnomAD v4 |
20 | g.32436544A>T | CA408563887 | ASXL1 | c.3832A>T (p.Asn1278Tyr) c.3649A>T (p.Asn1217Tyr) n.6185A>T c.1870-1886A>T (n.1870-1886A>T) c.3817A>T (p.Asn1273Tyr) c.3829A>T (p.Asn1277Tyr) c.3802A>T (p.Asn1268Tyr) c.3748A>T (p.Asn1250Tyr) c.3148A>T (p.Asn1050Tyr) c.4096A>T (p.Asn1366Tyr) c.4093A>T (p.Asn1365Tyr) c.4012A>T (p.Asn1338Tyr) c.3943A>T (p.Asn1315Tyr) c.3811A>T (p.Asn1271Tyr) c.3679A>T (p.Asn1227Tyr) | |
20 | g.32436545A>C | CA408563888 | ASXL1 | c.3833A>C (p.Asn1278Thr) c.3650A>C (p.Asn1217Thr) n.6186A>C c.1870-1885A>C (n.1870-1885A>C) c.3818A>C (p.Asn1273Thr) c.3830A>C (p.Asn1277Thr) c.3803A>C (p.Asn1268Thr) c.3749A>C (p.Asn1250Thr) c.3149A>C (p.Asn1050Thr) c.4097A>C (p.Asn1366Thr) c.4094A>C (p.Asn1365Thr) c.4013A>C (p.Asn1338Thr) c.3944A>C (p.Asn1315Thr) c.3812A>C (p.Asn1271Thr) c.3680A>C (p.Asn1227Thr) | |
20 | g.32436545A>G | CA408563890 | ASXL1 | c.3833A>G (p.Asn1278Ser) c.3650A>G (p.Asn1217Ser) n.6186A>G c.1870-1885A>G (n.1870-1885A>G) c.3818A>G (p.Asn1273Ser) c.3830A>G (p.Asn1277Ser) c.3803A>G (p.Asn1268Ser) c.3749A>G (p.Asn1250Ser) c.3149A>G (p.Asn1050Ser) c.4097A>G (p.Asn1366Ser) c.4094A>G (p.Asn1365Ser) c.4013A>G (p.Asn1338Ser) c.3944A>G (p.Asn1315Ser) c.3812A>G (p.Asn1271Ser) c.3680A>G (p.Asn1227Ser) | COSMIC COSMIC |
20 | g.32436545A>T | CA408563889 | ASXL1 | c.3833A>T (p.Asn1278Ile) c.3650A>T (p.Asn1217Ile) n.6186A>T c.1870-1885A>T (n.1870-1885A>T) c.3818A>T (p.Asn1273Ile) c.3830A>T (p.Asn1277Ile) c.3803A>T (p.Asn1268Ile) c.3749A>T (p.Asn1250Ile) c.3149A>T (p.Asn1050Ile) c.4097A>T (p.Asn1366Ile) c.4094A>T (p.Asn1365Ile) c.4013A>T (p.Asn1338Ile) c.3944A>T (p.Asn1315Ile) c.3812A>T (p.Asn1271Ile) c.3680A>T (p.Asn1227Ile) | |
20 | g.32436546T>A | CA408563891 | ASXL1 | c.3834T>A (p.Asn1278Lys) c.3651T>A (p.Asn1217Lys) n.6187T>A c.1870-1884T>A (n.1870-1884T>A) c.3819T>A (p.Asn1273Lys) c.3831T>A (p.Asn1277Lys) c.3804T>A (p.Asn1268Lys) c.3750T>A (p.Asn1250Lys) c.3150T>A (p.Asn1050Lys) c.4098T>A (p.Asn1366Lys) c.4095T>A (p.Asn1365Lys) c.4014T>A (p.Asn1338Lys) c.3945T>A (p.Asn1315Lys) c.3813T>A (p.Asn1271Lys) c.3681T>A (p.Asn1227Lys) | |
20 | g.32436546T>C | CA510467432 | ASXL1 | c.3834T>C (p.Asn1278=) c.3651T>C (p.Asn1217=) n.6187T>C c.1870-1884T>C (n.1870-1884T>C) c.3819T>C (p.Asn1273=) c.3831T>C (p.Asn1277=) c.3804T>C (p.Asn1268=) c.3750T>C (p.Asn1250=) c.3150T>C (p.Asn1050=) c.4098T>C (p.Asn1366=) c.4095T>C (p.Asn1365=) c.4014T>C (p.Asn1338=) c.3945T>C (p.Asn1315=) c.3813T>C (p.Asn1271=) c.3681T>C (p.Asn1227=) | |
20 | g.32436546T>G | CA408563892 | ASXL1 | c.3834T>G (p.Asn1278Lys) c.3651T>G (p.Asn1217Lys) n.6187T>G c.1870-1884T>G (n.1870-1884T>G) c.3819T>G (p.Asn1273Lys) c.3831T>G (p.Asn1277Lys) c.3804T>G (p.Asn1268Lys) c.3750T>G (p.Asn1250Lys) c.3150T>G (p.Asn1050Lys) c.4098T>G (p.Asn1366Lys) c.4095T>G (p.Asn1365Lys) c.4014T>G (p.Asn1338Lys) c.3945T>G (p.Asn1315Lys) c.3813T>G (p.Asn1271Lys) c.3681T>G (p.Asn1227Lys) | |
20 | g.32436547G>A | CA408563893 | ASXL1 | c.3835G>A (p.Val1279Met) c.3652G>A (p.Val1218Met) n.6188G>A c.1870-1883G>A (n.1870-1883G>A) c.3820G>A (p.Val1274Met) c.3832G>A (p.Val1278Met) c.3805G>A (p.Val1269Met) c.3751G>A (p.Val1251Met) c.3151G>A (p.Val1051Met) c.4099G>A (p.Val1367Met) c.4096G>A (p.Val1366Met) c.4015G>A (p.Val1339Met) c.3946G>A (p.Val1316Met) c.3814G>A (p.Val1272Met) c.3682G>A (p.Val1228Met) | dbSNP gnomAD v4 COSMIC COSMIC |
20 | g.32436547G>C | CA408563894 | ASXL1 | c.3835G>C (p.Val1279Leu) c.3652G>C (p.Val1218Leu) n.6188G>C c.1870-1883G>C (n.1870-1883G>C) c.3820G>C (p.Val1274Leu) c.3832G>C (p.Val1278Leu) c.3805G>C (p.Val1269Leu) c.3751G>C (p.Val1251Leu) c.3151G>C (p.Val1051Leu) c.4099G>C (p.Val1367Leu) c.4096G>C (p.Val1366Leu) c.4015G>C (p.Val1339Leu) c.3946G>C (p.Val1316Leu) c.3814G>C (p.Val1272Leu) c.3682G>C (p.Val1228Leu) | |
20 | g.32436547G= | CA2360293759 | ASXL1 | c.3835G= (p.Val1279=) c.3652G= (p.Val1218=) n.6188G= c.1870-1883G= (n.1870-1883G=) c.3820G= (p.Val1274=) c.3832G= (p.Val1278=) c.3805G= (p.Val1269=) c.3751G= (p.Val1251=) c.3151G= (p.Val1051=) c.4099G= (p.Val1367=) c.4096G= (p.Val1366=) c.4015G= (p.Val1339=) c.3946G= (p.Val1316=) c.3814G= (p.Val1272=) c.3682G= (p.Val1228=) | |
20 | g.32436547G>T | CA408563895 | ASXL1 | c.3835G>T (p.Val1279Leu) c.3652G>T (p.Val1218Leu) n.6188G>T c.1870-1883G>T (n.1870-1883G>T) c.3820G>T (p.Val1274Leu) c.3832G>T (p.Val1278Leu) c.3805G>T (p.Val1269Leu) c.3751G>T (p.Val1251Leu) c.3151G>T (p.Val1051Leu) c.4099G>T (p.Val1367Leu) c.4096G>T (p.Val1366Leu) c.4015G>T (p.Val1339Leu) c.3946G>T (p.Val1316Leu) c.3814G>T (p.Val1272Leu) c.3682G>T (p.Val1228Leu) | |
20 | g.32436548T>A | CA408563896 | ASXL1 | c.3836T>A (p.Val1279Glu) c.3653T>A (p.Val1218Glu) n.6189T>A c.1870-1882T>A (n.1870-1882T>A) c.3821T>A (p.Val1274Glu) c.3833T>A (p.Val1278Glu) c.3806T>A (p.Val1269Glu) c.3752T>A (p.Val1251Glu) c.3152T>A (p.Val1051Glu) c.4100T>A (p.Val1367Glu) c.4097T>A (p.Val1366Glu) c.4016T>A (p.Val1339Glu) c.3947T>A (p.Val1316Glu) c.3815T>A (p.Val1272Glu) c.3683T>A (p.Val1228Glu) | |
20 | g.32436548T>C | CA408563897 | ASXL1 | c.3836T>C (p.Val1279Ala) c.3653T>C (p.Val1218Ala) n.6189T>C c.1870-1882T>C (n.1870-1882T>C) c.3821T>C (p.Val1274Ala) c.3833T>C (p.Val1278Ala) c.3806T>C (p.Val1269Ala) c.3752T>C (p.Val1251Ala) c.3152T>C (p.Val1051Ala) c.4100T>C (p.Val1367Ala) c.4097T>C (p.Val1366Ala) c.4016T>C (p.Val1339Ala) c.3947T>C (p.Val1316Ala) c.3815T>C (p.Val1272Ala) c.3683T>C (p.Val1228Ala) | |
20 | g.32436548T>G | CA408563898 | ASXL1 | c.3836T>G (p.Val1279Gly) c.3653T>G (p.Val1218Gly) n.6189T>G c.1870-1882T>G (n.1870-1882T>G) c.3821T>G (p.Val1274Gly) c.3833T>G (p.Val1278Gly) c.3806T>G (p.Val1269Gly) c.3752T>G (p.Val1251Gly) c.3152T>G (p.Val1051Gly) c.4100T>G (p.Val1367Gly) c.4097T>G (p.Val1366Gly) c.4016T>G (p.Val1339Gly) c.3947T>G (p.Val1316Gly) c.3815T>G (p.Val1272Gly) c.3683T>G (p.Val1228Gly) | |
20 | g.32436549G>A | CA510467433 | ASXL1 | c.3837G>A (p.Val1279=) c.3654G>A (p.Val1218=) n.6190G>A c.1870-1881G>A (n.1870-1881G>A) c.3822G>A (p.Val1274=) c.3834G>A (p.Val1278=) c.3807G>A (p.Val1269=) c.3753G>A (p.Val1251=) c.3153G>A (p.Val1051=) c.4101G>A (p.Val1367=) c.4098G>A (p.Val1366=) c.4017G>A (p.Val1339=) c.3948G>A (p.Val1316=) c.3816G>A (p.Val1272=) c.3684G>A (p.Val1228=) | |
20 | g.32436549G>C | CA510467434 | ASXL1 | c.3837G>C (p.Val1279=) c.3654G>C (p.Val1218=) n.6190G>C c.1870-1881G>C (n.1870-1881G>C) c.3822G>C (p.Val1274=) c.3834G>C (p.Val1278=) c.3807G>C (p.Val1269=) c.3753G>C (p.Val1251=) c.3153G>C (p.Val1051=) c.4101G>C (p.Val1367=) c.4098G>C (p.Val1366=) c.4017G>C (p.Val1339=) c.3948G>C (p.Val1316=) c.3816G>C (p.Val1272=) c.3684G>C (p.Val1228=) | |
20 | g.32436549G>T | CA510467435 | ASXL1 | c.3837G>T (p.Val1279=) c.3654G>T (p.Val1218=) n.6190G>T c.1870-1881G>T (n.1870-1881G>T) c.3822G>T (p.Val1274=) c.3834G>T (p.Val1278=) c.3807G>T (p.Val1269=) c.3753G>T (p.Val1251=) c.3153G>T (p.Val1051=) c.4101G>T (p.Val1367=) c.4098G>T (p.Val1366=) c.4017G>T (p.Val1339=) c.3948G>T (p.Val1316=) c.3816G>T (p.Val1272=) c.3684G>T (p.Val1228=) | |
20 | g.32436550A= | CA2360293760 | ASXL1 | c.3838A= (p.Ile1280=) c.3655A= (p.Ile1219=) n.6191A= c.1870-1880A= (n.1870-1880A=) c.3823A= (p.Ile1275=) c.3835A= (p.Ile1279=) c.3808A= (p.Ile1270=) c.3754A= (p.Ile1252=) c.3154A= (p.Ile1052=) c.4102A= (p.Ile1368=) c.4099A= (p.Ile1367=) c.4018A= (p.Ile1340=) c.3949A= (p.Ile1317=) c.3817A= (p.Ile1273=) c.3685A= (p.Ile1229=) | |
20 | g.32436550A>C | CA408563899 | ASXL1 | c.3838A>C (p.Ile1280Leu) c.3655A>C (p.Ile1219Leu) n.6191A>C c.1870-1880A>C (n.1870-1880A>C) c.3823A>C (p.Ile1275Leu) c.3835A>C (p.Ile1279Leu) c.3808A>C (p.Ile1270Leu) c.3754A>C (p.Ile1252Leu) c.3154A>C (p.Ile1052Leu) c.4102A>C (p.Ile1368Leu) c.4099A>C (p.Ile1367Leu) c.4018A>C (p.Ile1340Leu) c.3949A>C (p.Ile1317Leu) c.3817A>C (p.Ile1273Leu) c.3685A>C (p.Ile1229Leu) | |
20 | g.32436550A>G | CA408563900 | ASXL1 | c.3838A>G (p.Ile1280Val) c.3655A>G (p.Ile1219Val) n.6191A>G c.1870-1880A>G (n.1870-1880A>G) c.3823A>G (p.Ile1275Val) c.3835A>G (p.Ile1279Val) c.3808A>G (p.Ile1270Val) c.3754A>G (p.Ile1252Val) c.3154A>G (p.Ile1052Val) c.4102A>G (p.Ile1368Val) c.4099A>G (p.Ile1367Val) c.4018A>G (p.Ile1340Val) c.3949A>G (p.Ile1317Val) c.3817A>G (p.Ile1273Val) c.3685A>G (p.Ile1229Val) | |
20 | g.32436550A>T | CA408563901 | ASXL1 | c.3838A>T (p.Ile1280Phe) c.3655A>T (p.Ile1219Phe) n.6191A>T c.1870-1880A>T (n.1870-1880A>T) c.3823A>T (p.Ile1275Phe) c.3835A>T (p.Ile1279Phe) c.3808A>T (p.Ile1270Phe) c.3754A>T (p.Ile1252Phe) c.3154A>T (p.Ile1052Phe) c.4102A>T (p.Ile1368Phe) c.4099A>T (p.Ile1367Phe) c.4018A>T (p.Ile1340Phe) c.3949A>T (p.Ile1317Phe) c.3817A>T (p.Ile1273Phe) c.3685A>T (p.Ile1229Phe) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436551T>A | CA408563903 | ASXL1 | c.3839T>A (p.Ile1280Asn) c.3656T>A (p.Ile1219Asn) n.6192T>A c.1870-1879T>A (n.1870-1879T>A) c.3824T>A (p.Ile1275Asn) c.3836T>A (p.Ile1279Asn) c.3809T>A (p.Ile1270Asn) c.3755T>A (p.Ile1252Asn) c.3155T>A (p.Ile1052Asn) c.4103T>A (p.Ile1368Asn) c.4100T>A (p.Ile1367Asn) c.4019T>A (p.Ile1340Asn) c.3950T>A (p.Ile1317Asn) c.3818T>A (p.Ile1273Asn) c.3686T>A (p.Ile1229Asn) | ClinVar |
20 | g.32436551T>C | CA408563904 | ASXL1 | c.3839T>C (p.Ile1280Thr) c.3656T>C (p.Ile1219Thr) n.6192T>C c.1870-1879T>C (n.1870-1879T>C) c.3824T>C (p.Ile1275Thr) c.3836T>C (p.Ile1279Thr) c.3809T>C (p.Ile1270Thr) c.3755T>C (p.Ile1252Thr) c.3155T>C (p.Ile1052Thr) c.4103T>C (p.Ile1368Thr) c.4100T>C (p.Ile1367Thr) c.4019T>C (p.Ile1340Thr) c.3950T>C (p.Ile1317Thr) c.3818T>C (p.Ile1273Thr) c.3686T>C (p.Ile1229Thr) | dbSNP |
20 | g.32436551T>G | CA408563902 | ASXL1 | c.3839T>G (p.Ile1280Ser) c.3656T>G (p.Ile1219Ser) n.6192T>G c.1870-1879T>G (n.1870-1879T>G) c.3824T>G (p.Ile1275Ser) c.3836T>G (p.Ile1279Ser) c.3809T>G (p.Ile1270Ser) c.3755T>G (p.Ile1252Ser) c.3155T>G (p.Ile1052Ser) c.4103T>G (p.Ile1368Ser) c.4100T>G (p.Ile1367Ser) c.4019T>G (p.Ile1340Ser) c.3950T>G (p.Ile1317Ser) c.3818T>G (p.Ile1273Ser) c.3686T>G (p.Ile1229Ser) | |
20 | g.32436551T= | CA2360293761 | ASXL1 | c.3839T= (p.Ile1280=) c.3656T= (p.Ile1219=) n.6192T= c.1870-1879T= (n.1870-1879T=) c.3824T= (p.Ile1275=) c.3836T= (p.Ile1279=) c.3809T= (p.Ile1270=) c.3755T= (p.Ile1252=) c.3155T= (p.Ile1052=) c.4103T= (p.Ile1368=) c.4100T= (p.Ile1367=) c.4019T= (p.Ile1340=) c.3950T= (p.Ile1317=) c.3818T= (p.Ile1273=) c.3686T= (p.Ile1229=) | |
20 | g.32436552C>A | CA510467437 | ASXL1 | c.3840C>A (p.Ile1280=) c.3657C>A (p.Ile1219=) n.6193C>A c.1870-1878C>A (n.1870-1878C>A) c.3825C>A (p.Ile1275=) c.3837C>A (p.Ile1279=) c.3810C>A (p.Ile1270=) c.3756C>A (p.Ile1252=) c.3156C>A (p.Ile1052=) c.4104C>A (p.Ile1368=) c.4101C>A (p.Ile1367=) c.4020C>A (p.Ile1340=) c.3951C>A (p.Ile1317=) c.3819C>A (p.Ile1273=) c.3687C>A (p.Ile1229=) | |
20 | g.32436552C= | CA2360293762 | ASXL1 | c.3840C= (p.Ile1280=) c.3657C= (p.Ile1219=) n.6193C= c.1870-1878C= (n.1870-1878C=) c.3825C= (p.Ile1275=) c.3837C= (p.Ile1279=) c.3810C= (p.Ile1270=) c.3756C= (p.Ile1252=) c.3156C= (p.Ile1052=) c.4104C= (p.Ile1368=) c.4101C= (p.Ile1367=) c.4020C= (p.Ile1340=) c.3951C= (p.Ile1317=) c.3819C= (p.Ile1273=) c.3687C= (p.Ile1229=) | |
20 | g.32436552C>G | CA408563905 | ASXL1 | c.3840C>G (p.Ile1280Met) c.3657C>G (p.Ile1219Met) n.6193C>G c.1870-1878C>G (n.1870-1878C>G) c.3825C>G (p.Ile1275Met) c.3837C>G (p.Ile1279Met) c.3810C>G (p.Ile1270Met) c.3756C>G (p.Ile1252Met) c.3156C>G (p.Ile1052Met) c.4104C>G (p.Ile1368Met) c.4101C>G (p.Ile1367Met) c.4020C>G (p.Ile1340Met) c.3951C>G (p.Ile1317Met) c.3819C>G (p.Ile1273Met) c.3687C>G (p.Ile1229Met) | |
20 | g.32436552C>T | CA510467436 | ASXL1 | c.3840C>T (p.Ile1280=) c.3657C>T (p.Ile1219=) n.6193C>T c.1870-1878C>T (n.1870-1878C>T) c.3825C>T (p.Ile1275=) c.3837C>T (p.Ile1279=) c.3810C>T (p.Ile1270=) c.3756C>T (p.Ile1252=) c.3156C>T (p.Ile1052=) c.4104C>T (p.Ile1368=) c.4101C>T (p.Ile1367=) c.4020C>T (p.Ile1340=) c.3951C>T (p.Ile1317=) c.3819C>T (p.Ile1273=) c.3687C>T (p.Ile1229=) | dbSNP gnomAD v4 |
20 | g.32436553T>A | CA408563908 | ASXL1 | c.3841T>A (p.Ser1281Thr) c.3658T>A (p.Ser1220Thr) n.6194T>A c.1870-1877T>A (n.1870-1877T>A) c.3826T>A (p.Ser1276Thr) c.3838T>A (p.Ser1280Thr) c.3811T>A (p.Ser1271Thr) c.3757T>A (p.Ser1253Thr) c.3157T>A (p.Ser1053Thr) c.4105T>A (p.Ser1369Thr) c.4102T>A (p.Ser1368Thr) c.4021T>A (p.Ser1341Thr) c.3952T>A (p.Ser1318Thr) c.3820T>A (p.Ser1274Thr) c.3688T>A (p.Ser1230Thr) | |
20 | g.32436553T>C | CA408563906 | ASXL1 | c.3841T>C (p.Ser1281Pro) c.3658T>C (p.Ser1220Pro) n.6194T>C c.1870-1877T>C (n.1870-1877T>C) c.3826T>C (p.Ser1276Pro) c.3838T>C (p.Ser1280Pro) c.3811T>C (p.Ser1271Pro) c.3757T>C (p.Ser1253Pro) c.3157T>C (p.Ser1053Pro) c.4105T>C (p.Ser1369Pro) c.4102T>C (p.Ser1368Pro) c.4021T>C (p.Ser1341Pro) c.3952T>C (p.Ser1318Pro) c.3820T>C (p.Ser1274Pro) c.3688T>C (p.Ser1230Pro) | dbSNP gnomAD v4 |
20 | g.32436553T>G | CA408563907 | ASXL1 | c.3841T>G (p.Ser1281Ala) c.3658T>G (p.Ser1220Ala) n.6194T>G c.1870-1877T>G (n.1870-1877T>G) c.3826T>G (p.Ser1276Ala) c.3838T>G (p.Ser1280Ala) c.3811T>G (p.Ser1271Ala) c.3757T>G (p.Ser1253Ala) c.3157T>G (p.Ser1053Ala) c.4105T>G (p.Ser1369Ala) c.4102T>G (p.Ser1368Ala) c.4021T>G (p.Ser1341Ala) c.3952T>G (p.Ser1318Ala) c.3820T>G (p.Ser1274Ala) c.3688T>G (p.Ser1230Ala) | |
20 | g.32436553T= | CA2360293763 | ASXL1 | c.3841T= (p.Ser1281=) c.3658T= (p.Ser1220=) n.6194T= c.1870-1877T= (n.1870-1877T=) c.3826T= (p.Ser1276=) c.3838T= (p.Ser1280=) c.3811T= (p.Ser1271=) c.3757T= (p.Ser1253=) c.3157T= (p.Ser1053=) c.4105T= (p.Ser1369=) c.4102T= (p.Ser1368=) c.4021T= (p.Ser1341=) c.3952T= (p.Ser1318=) c.3820T= (p.Ser1274=) c.3688T= (p.Ser1230=) | |
20 | g.32436554C>A | CA408563909 | ASXL1 | c.3842C>A (p.Ser1281Tyr) c.3659C>A (p.Ser1220Tyr) n.6195C>A c.1870-1876C>A (n.1870-1876C>A) c.3827C>A (p.Ser1276Tyr) c.3839C>A (p.Ser1280Tyr) c.3812C>A (p.Ser1271Tyr) c.3758C>A (p.Ser1253Tyr) c.3158C>A (p.Ser1053Tyr) c.4106C>A (p.Ser1369Tyr) c.4103C>A (p.Ser1368Tyr) c.4022C>A (p.Ser1341Tyr) c.3953C>A (p.Ser1318Tyr) c.3821C>A (p.Ser1274Tyr) c.3689C>A (p.Ser1230Tyr) | |
20 | g.32436554C= | CA2360293764 | ASXL1 | c.3842C= (p.Ser1281=) c.3659C= (p.Ser1220=) n.6195C= c.1870-1876C= (n.1870-1876C=) c.3827C= (p.Ser1276=) c.3839C= (p.Ser1280=) c.3812C= (p.Ser1271=) c.3758C= (p.Ser1253=) c.3158C= (p.Ser1053=) c.4106C= (p.Ser1369=) c.4103C= (p.Ser1368=) c.4022C= (p.Ser1341=) c.3953C= (p.Ser1318=) c.3821C= (p.Ser1274=) c.3689C= (p.Ser1230=) | |
20 | g.32436554C>G | CA408563910 | ASXL1 | c.3842C>G (p.Ser1281Cys) c.3659C>G (p.Ser1220Cys) n.6195C>G c.1870-1876C>G (n.1870-1876C>G) c.3827C>G (p.Ser1276Cys) c.3839C>G (p.Ser1280Cys) c.3812C>G (p.Ser1271Cys) c.3758C>G (p.Ser1253Cys) c.3158C>G (p.Ser1053Cys) c.4106C>G (p.Ser1369Cys) c.4103C>G (p.Ser1368Cys) c.4022C>G (p.Ser1341Cys) c.3953C>G (p.Ser1318Cys) c.3821C>G (p.Ser1274Cys) c.3689C>G (p.Ser1230Cys) | dbSNP |
20 | g.32436554C>T | CA408563911 | ASXL1 | c.3842C>T (p.Ser1281Phe) c.3659C>T (p.Ser1220Phe) n.6195C>T c.1870-1876C>T (n.1870-1876C>T) c.3827C>T (p.Ser1276Phe) c.3839C>T (p.Ser1280Phe) c.3812C>T (p.Ser1271Phe) c.3758C>T (p.Ser1253Phe) c.3158C>T (p.Ser1053Phe) c.4106C>T (p.Ser1369Phe) c.4103C>T (p.Ser1368Phe) c.4022C>T (p.Ser1341Phe) c.3953C>T (p.Ser1318Phe) c.3821C>T (p.Ser1274Phe) c.3689C>T (p.Ser1230Phe) | dbSNP |
20 | g.32436555C>A | CA510467438 | ASXL1 | c.3843C>A (p.Ser1281=) c.3660C>A (p.Ser1220=) n.6196C>A c.1870-1875C>A (n.1870-1875C>A) c.3828C>A (p.Ser1276=) c.3840C>A (p.Ser1280=) c.3813C>A (p.Ser1271=) c.3759C>A (p.Ser1253=) c.3159C>A (p.Ser1053=) c.4107C>A (p.Ser1369=) c.4104C>A (p.Ser1368=) c.4023C>A (p.Ser1341=) c.3954C>A (p.Ser1318=) c.3822C>A (p.Ser1274=) c.3690C>A (p.Ser1230=) | ClinVar gnomAD v4 |
20 | g.32436555C>G | CA510467439 | ASXL1 | c.3843C>G (p.Ser1281=) c.3660C>G (p.Ser1220=) n.6196C>G c.1870-1875C>G (n.1870-1875C>G) c.3828C>G (p.Ser1276=) c.3840C>G (p.Ser1280=) c.3813C>G (p.Ser1271=) c.3759C>G (p.Ser1253=) c.3159C>G (p.Ser1053=) c.4107C>G (p.Ser1369=) c.4104C>G (p.Ser1368=) c.4023C>G (p.Ser1341=) c.3954C>G (p.Ser1318=) c.3822C>G (p.Ser1274=) c.3690C>G (p.Ser1230=) | |
20 | g.32436555C>T | CA510467440 | ASXL1 | c.3843C>T (p.Ser1281=) c.3660C>T (p.Ser1220=) n.6196C>T c.1870-1875C>T (n.1870-1875C>T) c.3828C>T (p.Ser1276=) c.3840C>T (p.Ser1280=) c.3813C>T (p.Ser1271=) c.3759C>T (p.Ser1253=) c.3159C>T (p.Ser1053=) c.4107C>T (p.Ser1369=) c.4104C>T (p.Ser1368=) c.4023C>T (p.Ser1341=) c.3954C>T (p.Ser1318=) c.3822C>T (p.Ser1274=) c.3690C>T (p.Ser1230=) | ClinVar dbSNP COSMIC COSMIC |
20 | g.32436556T>A | CA408563912 | ASXL1 | c.3844T>A (p.Phe1282Ile) c.3661T>A (p.Phe1221Ile) n.6197T>A c.1870-1874T>A (n.1870-1874T>A) c.3829T>A (p.Phe1277Ile) c.3841T>A (p.Phe1281Ile) c.3814T>A (p.Phe1272Ile) c.3760T>A (p.Phe1254Ile) c.3160T>A (p.Phe1054Ile) c.4108T>A (p.Phe1370Ile) c.4105T>A (p.Phe1369Ile) c.4024T>A (p.Phe1342Ile) c.3955T>A (p.Phe1319Ile) c.3823T>A (p.Phe1275Ile) c.3691T>A (p.Phe1231Ile) | |
20 | g.32436556T>C | CA408563913 | ASXL1 | c.3844T>C (p.Phe1282Leu) c.3661T>C (p.Phe1221Leu) n.6197T>C c.1870-1874T>C (n.1870-1874T>C) c.3829T>C (p.Phe1277Leu) c.3841T>C (p.Phe1281Leu) c.3814T>C (p.Phe1272Leu) c.3760T>C (p.Phe1254Leu) c.3160T>C (p.Phe1054Leu) c.4108T>C (p.Phe1370Leu) c.4105T>C (p.Phe1369Leu) c.4024T>C (p.Phe1342Leu) c.3955T>C (p.Phe1319Leu) c.3823T>C (p.Phe1275Leu) c.3691T>C (p.Phe1231Leu) | |
20 | g.32436556T>G | CA408563914 | ASXL1 | c.3844T>G (p.Phe1282Val) c.3661T>G (p.Phe1221Val) n.6197T>G c.1870-1874T>G (n.1870-1874T>G) c.3829T>G (p.Phe1277Val) c.3841T>G (p.Phe1281Val) c.3814T>G (p.Phe1272Val) c.3760T>G (p.Phe1254Val) c.3160T>G (p.Phe1054Val) c.4108T>G (p.Phe1370Val) c.4105T>G (p.Phe1369Val) c.4024T>G (p.Phe1342Val) c.3955T>G (p.Phe1319Val) c.3823T>G (p.Phe1275Val) c.3691T>G (p.Phe1231Val) | |
20 | g.32436557T>A | CA408563915 | ASXL1 | c.3845T>A (p.Phe1282Tyr) c.3662T>A (p.Phe1221Tyr) n.6198T>A c.1870-1873T>A (n.1870-1873T>A) c.3830T>A (p.Phe1277Tyr) c.3842T>A (p.Phe1281Tyr) c.3815T>A (p.Phe1272Tyr) c.3761T>A (p.Phe1254Tyr) c.3161T>A (p.Phe1054Tyr) c.4109T>A (p.Phe1370Tyr) c.4106T>A (p.Phe1369Tyr) c.4025T>A (p.Phe1342Tyr) c.3956T>A (p.Phe1319Tyr) c.3824T>A (p.Phe1275Tyr) c.3692T>A (p.Phe1231Tyr) | |
20 | g.32436557T>C | CA408563916 | ASXL1 | c.3845T>C (p.Phe1282Ser) c.3662T>C (p.Phe1221Ser) n.6198T>C c.1870-1873T>C (n.1870-1873T>C) c.3830T>C (p.Phe1277Ser) c.3842T>C (p.Phe1281Ser) c.3815T>C (p.Phe1272Ser) c.3761T>C (p.Phe1254Ser) c.3161T>C (p.Phe1054Ser) c.4109T>C (p.Phe1370Ser) c.4106T>C (p.Phe1369Ser) c.4025T>C (p.Phe1342Ser) c.3956T>C (p.Phe1319Ser) c.3824T>C (p.Phe1275Ser) c.3692T>C (p.Phe1231Ser) | |
20 | g.32436557T>G | CA408563917 | ASXL1 | c.3845T>G (p.Phe1282Cys) c.3662T>G (p.Phe1221Cys) n.6198T>G c.1870-1873T>G (n.1870-1873T>G) c.3830T>G (p.Phe1277Cys) c.3842T>G (p.Phe1281Cys) c.3815T>G (p.Phe1272Cys) c.3761T>G (p.Phe1254Cys) c.3161T>G (p.Phe1054Cys) c.4109T>G (p.Phe1370Cys) c.4106T>G (p.Phe1369Cys) c.4025T>G (p.Phe1342Cys) c.3956T>G (p.Phe1319Cys) c.3824T>G (p.Phe1275Cys) c.3692T>G (p.Phe1231Cys) | |
20 | g.32436558T>A | CA408563919 | ASXL1 | c.3846T>A (p.Phe1282Leu) c.3663T>A (p.Phe1221Leu) n.6199T>A c.1870-1872T>A (n.1870-1872T>A) c.3831T>A (p.Phe1277Leu) c.3843T>A (p.Phe1281Leu) c.3816T>A (p.Phe1272Leu) c.3762T>A (p.Phe1254Leu) c.3162T>A (p.Phe1054Leu) c.4110T>A (p.Phe1370Leu) c.4107T>A (p.Phe1369Leu) c.4026T>A (p.Phe1342Leu) c.3957T>A (p.Phe1319Leu) c.3825T>A (p.Phe1275Leu) c.3693T>A (p.Phe1231Leu) | |
20 | g.32436558T>C | CA510467441 | ASXL1 | c.3846T>C (p.Phe1282=) c.3663T>C (p.Phe1221=) n.6199T>C c.1870-1872T>C (n.1870-1872T>C) c.3831T>C (p.Phe1277=) c.3843T>C (p.Phe1281=) c.3816T>C (p.Phe1272=) c.3762T>C (p.Phe1254=) c.3162T>C (p.Phe1054=) c.4110T>C (p.Phe1370=) c.4107T>C (p.Phe1369=) c.4026T>C (p.Phe1342=) c.3957T>C (p.Phe1319=) c.3825T>C (p.Phe1275=) c.3693T>C (p.Phe1231=) | |
20 | g.32436558T>G | CA408563918 | ASXL1 | c.3846T>G (p.Phe1282Leu) c.3663T>G (p.Phe1221Leu) n.6199T>G c.1870-1872T>G (n.1870-1872T>G) c.3831T>G (p.Phe1277Leu) c.3843T>G (p.Phe1281Leu) c.3816T>G (p.Phe1272Leu) c.3762T>G (p.Phe1254Leu) c.3162T>G (p.Phe1054Leu) c.4110T>G (p.Phe1370Leu) c.4107T>G (p.Phe1369Leu) c.4026T>G (p.Phe1342Leu) c.3957T>G (p.Phe1319Leu) c.3825T>G (p.Phe1275Leu) c.3693T>G (p.Phe1231Leu) | |
20 | g.32436558_32436559delinsTG | CA2360293765 | ASXL1 | c.3846_3847delinsTG (p.Phe1282=) c.3663_3664delinsTG (p.Phe1221=) n.6199_6200delinsTG c.1870-1872_1870-1871delinsTG (n.1870-1872_1870-1871delinsTG) c.3831_3832delinsTG (p.Phe1277=) c.3843_3844delinsTG (p.Phe1281=) c.3816_3817delinsTG (p.Phe1272=) c.3762_3763delinsTG (p.Phe1254=) c.3162_3163delinsTG (p.Phe1054=) c.4110_4111delinsTG (p.Phe1370=) c.4107_4108delinsTG (p.Phe1369=) c.4026_4027delinsTG (p.Phe1342=) c.3957_3958delinsTG (p.Phe1319=) c.3825_3826delinsTG (p.Phe1275=) c.3693_3694delinsTG (p.Phe1231=) | |
20 | g.32436559G>A | CA9808914 | ASXL1 | c.3847G>A (p.Gly1283Ser) c.3664G>A (p.Gly1222Ser) n.6200G>A c.1870-1871G>A (n.1870-1871G>A) c.3832G>A (p.Gly1278Ser) c.3844G>A (p.Gly1282Ser) c.3817G>A (p.Gly1273Ser) c.3763G>A (p.Gly1255Ser) c.3163G>A (p.Gly1055Ser) c.4111G>A (p.Gly1371Ser) c.4108G>A (p.Gly1370Ser) c.4027G>A (p.Gly1343Ser) c.3958G>A (p.Gly1320Ser) c.3826G>A (p.Gly1276Ser) c.3694G>A (p.Gly1232Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436559G>C | CA408563920 | ASXL1 | c.3847G>C (p.Gly1283Arg) c.3664G>C (p.Gly1222Arg) n.6200G>C c.1870-1871G>C (n.1870-1871G>C) c.3832G>C (p.Gly1278Arg) c.3844G>C (p.Gly1282Arg) c.3817G>C (p.Gly1273Arg) c.3763G>C (p.Gly1255Arg) c.3163G>C (p.Gly1055Arg) c.4111G>C (p.Gly1371Arg) c.4108G>C (p.Gly1370Arg) c.4027G>C (p.Gly1343Arg) c.3958G>C (p.Gly1320Arg) c.3826G>C (p.Gly1276Arg) c.3694G>C (p.Gly1232Arg) | |
20 | g.32436559G= | CA2360293766 | ASXL1 | c.3847G= (p.Gly1283=) c.3664G= (p.Gly1222=) n.6200G= c.1870-1871G= (n.1870-1871G=) c.3832G= (p.Gly1278=) c.3844G= (p.Gly1282=) c.3817G= (p.Gly1273=) c.3763G= (p.Gly1255=) c.3163G= (p.Gly1055=) c.4111G= (p.Gly1371=) c.4108G= (p.Gly1370=) c.4027G= (p.Gly1343=) c.3958G= (p.Gly1320=) c.3826G= (p.Gly1276=) c.3694G= (p.Gly1232=) | |
20 | g.32436559G>T | CA408563921 | ASXL1 | c.3847G>T (p.Gly1283Cys) c.3664G>T (p.Gly1222Cys) n.6200G>T c.1870-1871G>T (n.1870-1871G>T) c.3832G>T (p.Gly1278Cys) c.3844G>T (p.Gly1282Cys) c.3817G>T (p.Gly1273Cys) c.3763G>T (p.Gly1255Cys) c.3163G>T (p.Gly1055Cys) c.4111G>T (p.Gly1371Cys) c.4108G>T (p.Gly1370Cys) c.4027G>T (p.Gly1343Cys) c.3958G>T (p.Gly1320Cys) c.3826G>T (p.Gly1276Cys) c.3694G>T (p.Gly1232Cys) | |
20 | g.32436560del | CA313926365 | ASXL1 | c.3848del (p.Gly1283ValfsTer?) c.3665del (p.Gly1222ValfsTer?) n.6201del c.1870-1870del (n.1870-1870del) c.3833del (p.Gly1278ValfsTer?) c.3845del (p.Gly1282ValfsTer?) c.3818del (p.Gly1273ValfsTer?) c.3764del (p.Gly1255ValfsTer?) c.3164del (p.Gly1055ValfsTer?) c.4112del (p.Gly1371ValfsTer?) c.4109del (p.Gly1370ValfsTer?) c.4028del (p.Gly1343ValfsTer?) c.3959del (p.Gly1320ValfsTer?) c.3827del (p.Gly1276ValfsTer?) c.3695del (p.Gly1232ValfsTer?) | dbSNP |
20 | g.32436560G>A | CA408563922 | ASXL1 | c.3848G>A (p.Gly1283Asp) c.3665G>A (p.Gly1222Asp) n.6201G>A c.1870-1870G>A (n.1870-1870G>A) c.3833G>A (p.Gly1278Asp) c.3845G>A (p.Gly1282Asp) c.3818G>A (p.Gly1273Asp) c.3764G>A (p.Gly1255Asp) c.3164G>A (p.Gly1055Asp) c.4112G>A (p.Gly1371Asp) c.4109G>A (p.Gly1370Asp) c.4028G>A (p.Gly1343Asp) c.3959G>A (p.Gly1320Asp) c.3827G>A (p.Gly1276Asp) c.3695G>A (p.Gly1232Asp) | gnomAD v4 |
20 | g.32436560G>C | CA408563923 | ASXL1 | c.3848G>C (p.Gly1283Ala) c.3665G>C (p.Gly1222Ala) n.6201G>C c.1870-1870G>C (n.1870-1870G>C) c.3833G>C (p.Gly1278Ala) c.3845G>C (p.Gly1282Ala) c.3818G>C (p.Gly1273Ala) c.3764G>C (p.Gly1255Ala) c.3164G>C (p.Gly1055Ala) c.4112G>C (p.Gly1371Ala) c.4109G>C (p.Gly1370Ala) c.4028G>C (p.Gly1343Ala) c.3959G>C (p.Gly1320Ala) c.3827G>C (p.Gly1276Ala) c.3695G>C (p.Gly1232Ala) | dbSNP |
20 | g.32436560G>T | CA408563924 | ASXL1 | c.3848G>T (p.Gly1283Val) c.3665G>T (p.Gly1222Val) n.6201G>T c.1870-1870G>T (n.1870-1870G>T) c.3833G>T (p.Gly1278Val) c.3845G>T (p.Gly1282Val) c.3818G>T (p.Gly1273Val) c.3764G>T (p.Gly1255Val) c.3164G>T (p.Gly1055Val) c.4112G>T (p.Gly1371Val) c.4109G>T (p.Gly1370Val) c.4028G>T (p.Gly1343Val) c.3959G>T (p.Gly1320Val) c.3827G>T (p.Gly1276Val) c.3695G>T (p.Gly1232Val) | |
20 | g.32436561_32436578del | CA2759533400 | ASXL1 | c.3849_3866del (p.Pro1284_Arg1289del) c.3666_3683del (p.Pro1223_Arg1228del) n.6202_6219del c.1870-1869_1870-1852del (n.1870-1869_1870-1852del) c.3834_3851del (p.Pro1279_Arg1284del) c.3846_3863del (p.Pro1283_Arg1288del) c.3819_3836del (p.Pro1274_Arg1279del) c.3765_3782del (p.Pro1256_Arg1261del) c.3165_3182del (p.Pro1056_Arg1061del) c.4113_4130del (p.Pro1372_Arg1377del) c.4110_4127del (p.Pro1371_Arg1376del) c.4029_4046del (p.Pro1344_Arg1349del) c.3960_3977del (p.Pro1321_Arg1326del) c.3828_3845del (p.Pro1277_Arg1282del) c.3696_3713del (p.Pro1233_Arg1238del) | |
20 | g.32436561T>A | CA510467442 | ASXL1 | c.3849T>A (p.Gly1283=) c.3666T>A (p.Gly1222=) n.6202T>A c.1870-1869T>A (n.1870-1869T>A) c.3834T>A (p.Gly1278=) c.3846T>A (p.Gly1282=) c.3819T>A (p.Gly1273=) c.3765T>A (p.Gly1255=) c.3165T>A (p.Gly1055=) c.4113T>A (p.Gly1371=) c.4110T>A (p.Gly1370=) c.4029T>A (p.Gly1343=) c.3960T>A (p.Gly1320=) c.3828T>A (p.Gly1276=) c.3696T>A (p.Gly1232=) | dbSNP |
20 | g.32436561T>C | CA510467443 | ASXL1 | c.3849T>C (p.Gly1283=) c.3666T>C (p.Gly1222=) n.6202T>C c.1870-1869T>C (n.1870-1869T>C) c.3834T>C (p.Gly1278=) c.3846T>C (p.Gly1282=) c.3819T>C (p.Gly1273=) c.3765T>C (p.Gly1255=) c.3165T>C (p.Gly1055=) c.4113T>C (p.Gly1371=) c.4110T>C (p.Gly1370=) c.4029T>C (p.Gly1343=) c.3960T>C (p.Gly1320=) c.3828T>C (p.Gly1276=) c.3696T>C (p.Gly1232=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436561T>G | CA510467444 | ASXL1 | c.3849T>G (p.Gly1283=) c.3666T>G (p.Gly1222=) n.6202T>G c.1870-1869T>G (n.1870-1869T>G) c.3834T>G (p.Gly1278=) c.3846T>G (p.Gly1282=) c.3819T>G (p.Gly1273=) c.3765T>G (p.Gly1255=) c.3165T>G (p.Gly1055=) c.4113T>G (p.Gly1371=) c.4110T>G (p.Gly1370=) c.4029T>G (p.Gly1343=) c.3960T>G (p.Gly1320=) c.3828T>G (p.Gly1276=) c.3696T>G (p.Gly1232=) | |
20 | g.32436561T= | CA2360293767 | ASXL1 | c.3849T= (p.Gly1283=) c.3666T= (p.Gly1222=) n.6202T= c.1870-1869T= (n.1870-1869T=) c.3834T= (p.Gly1278=) c.3846T= (p.Gly1282=) c.3819T= (p.Gly1273=) c.3765T= (p.Gly1255=) c.3165T= (p.Gly1055=) c.4113T= (p.Gly1371=) c.4110T= (p.Gly1370=) c.4029T= (p.Gly1343=) c.3960T= (p.Gly1320=) c.3828T= (p.Gly1276=) c.3696T= (p.Gly1232=) | |
20 | g.32436562C>A | CA408563925 | ASXL1 | c.3850C>A (p.Pro1284Thr) c.3667C>A (p.Pro1223Thr) n.6203C>A c.1870-1868C>A (n.1870-1868C>A) c.3835C>A (p.Pro1279Thr) c.3847C>A (p.Pro1283Thr) c.3820C>A (p.Pro1274Thr) c.3766C>A (p.Pro1256Thr) c.3166C>A (p.Pro1056Thr) c.4114C>A (p.Pro1372Thr) c.4111C>A (p.Pro1371Thr) c.4030C>A (p.Pro1344Thr) c.3961C>A (p.Pro1321Thr) c.3829C>A (p.Pro1277Thr) c.3697C>A (p.Pro1233Thr) | |
20 | g.32436562C= | CA2360293768 | ASXL1 | c.3850C= (p.Pro1284=) c.3667C= (p.Pro1223=) n.6203C= c.1870-1868C= (n.1870-1868C=) c.3835C= (p.Pro1279=) c.3847C= (p.Pro1283=) c.3820C= (p.Pro1274=) c.3766C= (p.Pro1256=) c.3166C= (p.Pro1056=) c.4114C= (p.Pro1372=) c.4111C= (p.Pro1371=) c.4030C= (p.Pro1344=) c.3961C= (p.Pro1321=) c.3829C= (p.Pro1277=) c.3697C= (p.Pro1233=) | |
20 | g.32436562C>G | CA9808915 | ASXL1 | c.3850C>G (p.Pro1284Ala) c.3667C>G (p.Pro1223Ala) n.6203C>G c.1870-1868C>G (n.1870-1868C>G) c.3835C>G (p.Pro1279Ala) c.3847C>G (p.Pro1283Ala) c.3820C>G (p.Pro1274Ala) c.3766C>G (p.Pro1256Ala) c.3166C>G (p.Pro1056Ala) c.4114C>G (p.Pro1372Ala) c.4111C>G (p.Pro1371Ala) c.4030C>G (p.Pro1344Ala) c.3961C>G (p.Pro1321Ala) c.3829C>G (p.Pro1277Ala) c.3697C>G (p.Pro1233Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436562C>T | CA408563926 | ASXL1 | c.3850C>T (p.Pro1284Ser) c.3667C>T (p.Pro1223Ser) n.6203C>T c.1870-1868C>T (n.1870-1868C>T) c.3835C>T (p.Pro1279Ser) c.3847C>T (p.Pro1283Ser) c.3820C>T (p.Pro1274Ser) c.3766C>T (p.Pro1256Ser) c.3166C>T (p.Pro1056Ser) c.4114C>T (p.Pro1372Ser) c.4111C>T (p.Pro1371Ser) c.4030C>T (p.Pro1344Ser) c.3961C>T (p.Pro1321Ser) c.3829C>T (p.Pro1277Ser) c.3697C>T (p.Pro1233Ser) | |
20 | g.32436563C>A | CA408563927 | ASXL1 | c.3851C>A (p.Pro1284Gln) c.3668C>A (p.Pro1223Gln) n.6204C>A c.1870-1867C>A (n.1870-1867C>A) c.3836C>A (p.Pro1279Gln) c.3848C>A (p.Pro1283Gln) c.3821C>A (p.Pro1274Gln) c.3767C>A (p.Pro1256Gln) c.3167C>A (p.Pro1056Gln) c.4115C>A (p.Pro1372Gln) c.4112C>A (p.Pro1371Gln) c.4031C>A (p.Pro1344Gln) c.3962C>A (p.Pro1321Gln) c.3830C>A (p.Pro1277Gln) c.3698C>A (p.Pro1233Gln) | |
20 | g.32436563C>G | CA408563928 | ASXL1 | c.3851C>G (p.Pro1284Arg) c.3668C>G (p.Pro1223Arg) n.6204C>G c.1870-1867C>G (n.1870-1867C>G) c.3836C>G (p.Pro1279Arg) c.3848C>G (p.Pro1283Arg) c.3821C>G (p.Pro1274Arg) c.3767C>G (p.Pro1256Arg) c.3167C>G (p.Pro1056Arg) c.4115C>G (p.Pro1372Arg) c.4112C>G (p.Pro1371Arg) c.4031C>G (p.Pro1344Arg) c.3962C>G (p.Pro1321Arg) c.3830C>G (p.Pro1277Arg) c.3698C>G (p.Pro1233Arg) | COSMIC COSMIC |
20 | g.32436563C>T | CA408563929 | ASXL1 | c.3851C>T (p.Pro1284Leu) c.3668C>T (p.Pro1223Leu) n.6204C>T c.1870-1867C>T (n.1870-1867C>T) c.3836C>T (p.Pro1279Leu) c.3848C>T (p.Pro1283Leu) c.3821C>T (p.Pro1274Leu) c.3767C>T (p.Pro1256Leu) c.3167C>T (p.Pro1056Leu) c.4115C>T (p.Pro1372Leu) c.4112C>T (p.Pro1371Leu) c.4031C>T (p.Pro1344Leu) c.3962C>T (p.Pro1321Leu) c.3830C>T (p.Pro1277Leu) c.3698C>T (p.Pro1233Leu) | dbSNP gnomAD v4 |
20 | g.32436564A>C | CA510467445 | ASXL1 | c.3852A>C (p.Pro1284=) c.3669A>C (p.Pro1223=) n.6205A>C c.1870-1866A>C (n.1870-1866A>C) c.3837A>C (p.Pro1279=) c.3849A>C (p.Pro1283=) c.3822A>C (p.Pro1274=) c.3768A>C (p.Pro1256=) c.3168A>C (p.Pro1056=) c.4116A>C (p.Pro1372=) c.4113A>C (p.Pro1371=) c.4032A>C (p.Pro1344=) c.3963A>C (p.Pro1321=) c.3831A>C (p.Pro1277=) c.3699A>C (p.Pro1233=) | |
20 | g.32436564A>G | CA510467446 | ASXL1 | c.3852A>G (p.Pro1284=) c.3669A>G (p.Pro1223=) n.6205A>G c.1870-1866A>G (n.1870-1866A>G) c.3837A>G (p.Pro1279=) c.3849A>G (p.Pro1283=) c.3822A>G (p.Pro1274=) c.3768A>G (p.Pro1256=) c.3168A>G (p.Pro1056=) c.4116A>G (p.Pro1372=) c.4113A>G (p.Pro1371=) c.4032A>G (p.Pro1344=) c.3963A>G (p.Pro1321=) c.3831A>G (p.Pro1277=) c.3699A>G (p.Pro1233=) | |
20 | g.32436564A>T | CA510467447 | ASXL1 | c.3852A>T (p.Pro1284=) c.3669A>T (p.Pro1223=) n.6205A>T c.1870-1866A>T (n.1870-1866A>T) c.3837A>T (p.Pro1279=) c.3849A>T (p.Pro1283=) c.3822A>T (p.Pro1274=) c.3768A>T (p.Pro1256=) c.3168A>T (p.Pro1056=) c.4116A>T (p.Pro1372=) c.4113A>T (p.Pro1371=) c.4032A>T (p.Pro1344=) c.3963A>T (p.Pro1321=) c.3831A>T (p.Pro1277=) c.3699A>T (p.Pro1233=) | |
20 | g.32436565G>A | CA408563931 | ASXL1 | c.3853G>A (p.Glu1285Lys) c.3670G>A (p.Glu1224Lys) n.6206G>A c.1870-1865G>A (n.1870-1865G>A) c.3838G>A (p.Glu1280Lys) c.3850G>A (p.Glu1284Lys) c.3823G>A (p.Glu1275Lys) c.3769G>A (p.Glu1257Lys) c.3169G>A (p.Glu1057Lys) c.4117G>A (p.Glu1373Lys) c.4114G>A (p.Glu1372Lys) c.4033G>A (p.Glu1345Lys) c.3964G>A (p.Glu1322Lys) c.3832G>A (p.Glu1278Lys) c.3700G>A (p.Glu1234Lys) | |
20 | g.32436565G>C | CA408563932 | ASXL1 | c.3853G>C (p.Glu1285Gln) c.3670G>C (p.Glu1224Gln) n.6206G>C c.1870-1865G>C (n.1870-1865G>C) c.3838G>C (p.Glu1280Gln) c.3850G>C (p.Glu1284Gln) c.3823G>C (p.Glu1275Gln) c.3769G>C (p.Glu1257Gln) c.3169G>C (p.Glu1057Gln) c.4117G>C (p.Glu1373Gln) c.4114G>C (p.Glu1372Gln) c.4033G>C (p.Glu1345Gln) c.3964G>C (p.Glu1322Gln) c.3832G>C (p.Glu1278Gln) c.3700G>C (p.Glu1234Gln) | |
20 | g.32436565G>T | CA408563930 | ASXL1 | c.3853G>T (p.Glu1285Ter) c.3670G>T (p.Glu1224Ter) n.6206G>T c.1870-1865G>T (n.1870-1865G>T) c.3838G>T (p.Glu1280Ter) c.3850G>T (p.Glu1284Ter) c.3823G>T (p.Glu1275Ter) c.3769G>T (p.Glu1257Ter) c.3169G>T (p.Glu1057Ter) c.4117G>T (p.Glu1373Ter) c.4114G>T (p.Glu1372Ter) c.4033G>T (p.Glu1345Ter) c.3964G>T (p.Glu1322Ter) c.3832G>T (p.Glu1278Ter) c.3700G>T (p.Glu1234Ter) | |
20 | g.32436566A>C | CA408563933 | ASXL1 | c.3854A>C (p.Glu1285Ala) c.3671A>C (p.Glu1224Ala) n.6207A>C c.1870-1864A>C (n.1870-1864A>C) c.3839A>C (p.Glu1280Ala) c.3851A>C (p.Glu1284Ala) c.3824A>C (p.Glu1275Ala) c.3770A>C (p.Glu1257Ala) c.3170A>C (p.Glu1057Ala) c.4118A>C (p.Glu1373Ala) c.4115A>C (p.Glu1372Ala) c.4034A>C (p.Glu1345Ala) c.3965A>C (p.Glu1322Ala) c.3833A>C (p.Glu1278Ala) c.3701A>C (p.Glu1234Ala) | |
20 | g.32436566A>G | CA408563934 | ASXL1 | c.3854A>G (p.Glu1285Gly) c.3671A>G (p.Glu1224Gly) n.6207A>G c.1870-1864A>G (n.1870-1864A>G) c.3839A>G (p.Glu1280Gly) c.3851A>G (p.Glu1284Gly) c.3824A>G (p.Glu1275Gly) c.3770A>G (p.Glu1257Gly) c.3170A>G (p.Glu1057Gly) c.4118A>G (p.Glu1373Gly) c.4115A>G (p.Glu1372Gly) c.4034A>G (p.Glu1345Gly) c.3965A>G (p.Glu1322Gly) c.3833A>G (p.Glu1278Gly) c.3701A>G (p.Glu1234Gly) | |
20 | g.32436566A>T | CA408563935 | ASXL1 | c.3854A>T (p.Glu1285Val) c.3671A>T (p.Glu1224Val) n.6207A>T c.1870-1864A>T (n.1870-1864A>T) c.3839A>T (p.Glu1280Val) c.3851A>T (p.Glu1284Val) c.3824A>T (p.Glu1275Val) c.3770A>T (p.Glu1257Val) c.3170A>T (p.Glu1057Val) c.4118A>T (p.Glu1373Val) c.4115A>T (p.Glu1372Val) c.4034A>T (p.Glu1345Val) c.3965A>T (p.Glu1322Val) c.3833A>T (p.Glu1278Val) c.3701A>T (p.Glu1234Val) | |
20 | g.32436567G>A | CA9808916 | ASXL1 | c.3855G>A (p.Glu1285=) c.3672G>A (p.Glu1224=) n.6208G>A c.1870-1863G>A (n.1870-1863G>A) c.3840G>A (p.Glu1280=) c.3852G>A (p.Glu1284=) c.3825G>A (p.Glu1275=) c.3771G>A (p.Glu1257=) c.3171G>A (p.Glu1057=) c.4119G>A (p.Glu1373=) c.4116G>A (p.Glu1372=) c.4035G>A (p.Glu1345=) c.3966G>A (p.Glu1322=) c.3834G>A (p.Glu1278=) c.3702G>A (p.Glu1234=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436567G>C | CA408563936 | ASXL1 | c.3855G>C (p.Glu1285Asp) c.3672G>C (p.Glu1224Asp) n.6208G>C c.1870-1863G>C (n.1870-1863G>C) c.3840G>C (p.Glu1280Asp) c.3852G>C (p.Glu1284Asp) c.3825G>C (p.Glu1275Asp) c.3771G>C (p.Glu1257Asp) c.3171G>C (p.Glu1057Asp) c.4119G>C (p.Glu1373Asp) c.4116G>C (p.Glu1372Asp) c.4035G>C (p.Glu1345Asp) c.3966G>C (p.Glu1322Asp) c.3834G>C (p.Glu1278Asp) c.3702G>C (p.Glu1234Asp) | |
20 | g.32436567G= | CA2360293769 | ASXL1 | c.3855G= (p.Glu1285=) c.3672G= (p.Glu1224=) n.6208G= c.1870-1863G= (n.1870-1863G=) c.3840G= (p.Glu1280=) c.3852G= (p.Glu1284=) c.3825G= (p.Glu1275=) c.3771G= (p.Glu1257=) c.3171G= (p.Glu1057=) c.4119G= (p.Glu1373=) c.4116G= (p.Glu1372=) c.4035G= (p.Glu1345=) c.3966G= (p.Glu1322=) c.3834G= (p.Glu1278=) c.3702G= (p.Glu1234=) | |
20 | g.32436567G>T | CA408563937 | ASXL1 | c.3855G>T (p.Glu1285Asp) c.3672G>T (p.Glu1224Asp) n.6208G>T c.1870-1863G>T (n.1870-1863G>T) c.3840G>T (p.Glu1280Asp) c.3852G>T (p.Glu1284Asp) c.3825G>T (p.Glu1275Asp) c.3771G>T (p.Glu1257Asp) c.3171G>T (p.Glu1057Asp) c.4119G>T (p.Glu1373Asp) c.4116G>T (p.Glu1372Asp) c.4035G>T (p.Glu1345Asp) c.3966G>T (p.Glu1322Asp) c.3834G>T (p.Glu1278Asp) c.3702G>T (p.Glu1234Asp) | |
20 | g.32436568C>A | CA408563938 | ASXL1 | c.3856C>A (p.Gln1286Lys) c.3673C>A (p.Gln1225Lys) n.6209C>A c.1870-1862C>A (n.1870-1862C>A) c.3841C>A (p.Gln1281Lys) c.3853C>A (p.Gln1285Lys) c.3826C>A (p.Gln1276Lys) c.3772C>A (p.Gln1258Lys) c.3172C>A (p.Gln1058Lys) c.4120C>A (p.Gln1374Lys) c.4117C>A (p.Gln1373Lys) c.4036C>A (p.Gln1346Lys) c.3967C>A (p.Gln1323Lys) c.3835C>A (p.Gln1279Lys) c.3703C>A (p.Gln1235Lys) | |
20 | g.32436568C= | CA2360293770 | ASXL1 | c.3856C= (p.Gln1286=) c.3673C= (p.Gln1225=) n.6209C= c.1870-1862C= (n.1870-1862C=) c.3841C= (p.Gln1281=) c.3853C= (p.Gln1285=) c.3826C= (p.Gln1276=) c.3772C= (p.Gln1258=) c.3172C= (p.Gln1058=) c.4120C= (p.Gln1374=) c.4117C= (p.Gln1373=) c.4036C= (p.Gln1346=) c.3967C= (p.Gln1323=) c.3835C= (p.Gln1279=) c.3703C= (p.Gln1235=) | |
20 | g.32436568C>G | CA408563939 | ASXL1 | c.3856C>G (p.Gln1286Glu) c.3673C>G (p.Gln1225Glu) n.6209C>G c.1870-1862C>G (n.1870-1862C>G) c.3841C>G (p.Gln1281Glu) c.3853C>G (p.Gln1285Glu) c.3826C>G (p.Gln1276Glu) c.3772C>G (p.Gln1258Glu) c.3172C>G (p.Gln1058Glu) c.4120C>G (p.Gln1374Glu) c.4117C>G (p.Gln1373Glu) c.4036C>G (p.Gln1346Glu) c.3967C>G (p.Gln1323Glu) c.3835C>G (p.Gln1279Glu) c.3703C>G (p.Gln1235Glu) | |
20 | g.32436568C>T | CA408563940 | ASXL1 | c.3856C>T (p.Gln1286Ter) c.3673C>T (p.Gln1225Ter) n.6209C>T c.1870-1862C>T (n.1870-1862C>T) c.3841C>T (p.Gln1281Ter) c.3853C>T (p.Gln1285Ter) c.3826C>T (p.Gln1276Ter) c.3772C>T (p.Gln1258Ter) c.3172C>T (p.Gln1058Ter) c.4120C>T (p.Gln1374Ter) c.4117C>T (p.Gln1373Ter) c.4036C>T (p.Gln1346Ter) c.3967C>T (p.Gln1323Ter) c.3835C>T (p.Gln1279Ter) c.3703C>T (p.Gln1235Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436569A= | CA2360293771 | ASXL1 | c.3857A= (p.Gln1286=) c.3674A= (p.Gln1225=) n.6210A= c.1870-1861A= (n.1870-1861A=) c.3842A= (p.Gln1281=) c.3854A= (p.Gln1285=) c.3827A= (p.Gln1276=) c.3773A= (p.Gln1258=) c.3173A= (p.Gln1058=) c.4121A= (p.Gln1374=) c.4118A= (p.Gln1373=) c.4037A= (p.Gln1346=) c.3968A= (p.Gln1323=) c.3836A= (p.Gln1279=) c.3704A= (p.Gln1235=) | |
20 | g.32436569A>C | CA408563941 | ASXL1 | c.3857A>C (p.Gln1286Pro) c.3674A>C (p.Gln1225Pro) n.6210A>C c.1870-1861A>C (n.1870-1861A>C) c.3842A>C (p.Gln1281Pro) c.3854A>C (p.Gln1285Pro) c.3827A>C (p.Gln1276Pro) c.3773A>C (p.Gln1258Pro) c.3173A>C (p.Gln1058Pro) c.4121A>C (p.Gln1374Pro) c.4118A>C (p.Gln1373Pro) c.4037A>C (p.Gln1346Pro) c.3968A>C (p.Gln1323Pro) c.3836A>C (p.Gln1279Pro) c.3704A>C (p.Gln1235Pro) | |
20 | g.32436569A>G | CA408563942 | ASXL1 | c.3857A>G (p.Gln1286Arg) c.3674A>G (p.Gln1225Arg) n.6210A>G c.1870-1861A>G (n.1870-1861A>G) c.3842A>G (p.Gln1281Arg) c.3854A>G (p.Gln1285Arg) c.3827A>G (p.Gln1276Arg) c.3773A>G (p.Gln1258Arg) c.3173A>G (p.Gln1058Arg) c.4121A>G (p.Gln1374Arg) c.4118A>G (p.Gln1373Arg) c.4037A>G (p.Gln1346Arg) c.3968A>G (p.Gln1323Arg) c.3836A>G (p.Gln1279Arg) c.3704A>G (p.Gln1235Arg) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436569A>T | CA408563943 | ASXL1 | c.3857A>T (p.Gln1286Leu) c.3674A>T (p.Gln1225Leu) n.6210A>T c.1870-1861A>T (n.1870-1861A>T) c.3842A>T (p.Gln1281Leu) c.3854A>T (p.Gln1285Leu) c.3827A>T (p.Gln1276Leu) c.3773A>T (p.Gln1258Leu) c.3173A>T (p.Gln1058Leu) c.4121A>T (p.Gln1374Leu) c.4118A>T (p.Gln1373Leu) c.4037A>T (p.Gln1346Leu) c.3968A>T (p.Gln1323Leu) c.3836A>T (p.Gln1279Leu) c.3704A>T (p.Gln1235Leu) | |
20 | g.32436570G>A | CA510467448 | ASXL1 | c.3858G>A (p.Gln1286=) c.3675G>A (p.Gln1225=) n.6211G>A c.1870-1860G>A (n.1870-1860G>A) c.3843G>A (p.Gln1281=) c.3855G>A (p.Gln1285=) c.3828G>A (p.Gln1276=) c.3774G>A (p.Gln1258=) c.3174G>A (p.Gln1058=) c.4122G>A (p.Gln1374=) c.4119G>A (p.Gln1373=) c.4038G>A (p.Gln1346=) c.3969G>A (p.Gln1323=) c.3837G>A (p.Gln1279=) c.3705G>A (p.Gln1235=) | |
20 | g.32436570G>C | CA408563945 | ASXL1 | c.3858G>C (p.Gln1286His) c.3675G>C (p.Gln1225His) n.6211G>C c.1870-1860G>C (n.1870-1860G>C) c.3843G>C (p.Gln1281His) c.3855G>C (p.Gln1285His) c.3828G>C (p.Gln1276His) c.3774G>C (p.Gln1258His) c.3174G>C (p.Gln1058His) c.4122G>C (p.Gln1374His) c.4119G>C (p.Gln1373His) c.4038G>C (p.Gln1346His) c.3969G>C (p.Gln1323His) c.3837G>C (p.Gln1279His) c.3705G>C (p.Gln1235His) | dbSNP |
20 | g.32436570G= | CA2360293772 | ASXL1 | c.3858G= (p.Gln1286=) c.3675G= (p.Gln1225=) n.6211G= c.1870-1860G= (n.1870-1860G=) c.3843G= (p.Gln1281=) c.3855G= (p.Gln1285=) c.3828G= (p.Gln1276=) c.3774G= (p.Gln1258=) c.3174G= (p.Gln1058=) c.4122G= (p.Gln1374=) c.4119G= (p.Gln1373=) c.4038G= (p.Gln1346=) c.3969G= (p.Gln1323=) c.3837G= (p.Gln1279=) c.3705G= (p.Gln1235=) | |
20 | g.32436570G>T | CA408563944 | ASXL1 | c.3858G>T (p.Gln1286His) c.3675G>T (p.Gln1225His) n.6211G>T c.1870-1860G>T (n.1870-1860G>T) c.3843G>T (p.Gln1281His) c.3855G>T (p.Gln1285His) c.3828G>T (p.Gln1276His) c.3774G>T (p.Gln1258His) c.3174G>T (p.Gln1058His) c.4122G>T (p.Gln1374His) c.4119G>T (p.Gln1373His) c.4038G>T (p.Gln1346His) c.3969G>T (p.Gln1323His) c.3837G>T (p.Gln1279His) c.3705G>T (p.Gln1235His) | |
20 | g.32436571A>C | CA408563946 | ASXL1 | c.3859A>C (p.Thr1287Pro) c.3676A>C (p.Thr1226Pro) n.6212A>C c.1870-1859A>C (n.1870-1859A>C) c.3844A>C (p.Thr1282Pro) c.3856A>C (p.Thr1286Pro) c.3829A>C (p.Thr1277Pro) c.3775A>C (p.Thr1259Pro) c.3175A>C (p.Thr1059Pro) c.4123A>C (p.Thr1375Pro) c.4120A>C (p.Thr1374Pro) c.4039A>C (p.Thr1347Pro) c.3970A>C (p.Thr1324Pro) c.3838A>C (p.Thr1280Pro) c.3706A>C (p.Thr1236Pro) | |
20 | g.32436571A>G | CA408563947 | ASXL1 | c.3859A>G (p.Thr1287Ala) c.3676A>G (p.Thr1226Ala) n.6212A>G c.1870-1859A>G (n.1870-1859A>G) c.3844A>G (p.Thr1282Ala) c.3856A>G (p.Thr1286Ala) c.3829A>G (p.Thr1277Ala) c.3775A>G (p.Thr1259Ala) c.3175A>G (p.Thr1059Ala) c.4123A>G (p.Thr1375Ala) c.4120A>G (p.Thr1374Ala) c.4039A>G (p.Thr1347Ala) c.3970A>G (p.Thr1324Ala) c.3838A>G (p.Thr1280Ala) c.3706A>G (p.Thr1236Ala) | gnomAD v4 COSMIC COSMIC |
20 | g.32436571A>T | CA408563948 | ASXL1 | c.3859A>T (p.Thr1287Ser) c.3676A>T (p.Thr1226Ser) n.6212A>T c.1870-1859A>T (n.1870-1859A>T) c.3844A>T (p.Thr1282Ser) c.3856A>T (p.Thr1286Ser) c.3829A>T (p.Thr1277Ser) c.3775A>T (p.Thr1259Ser) c.3175A>T (p.Thr1059Ser) c.4123A>T (p.Thr1375Ser) c.4120A>T (p.Thr1374Ser) c.4039A>T (p.Thr1347Ser) c.3970A>T (p.Thr1324Ser) c.3838A>T (p.Thr1280Ser) c.3706A>T (p.Thr1236Ser) | |
20 | g.32436572C>A | CA408563949 | ASXL1 | c.3860C>A (p.Thr1287Lys) c.3677C>A (p.Thr1226Lys) n.6213C>A c.1870-1858C>A (n.1870-1858C>A) c.3845C>A (p.Thr1282Lys) c.3857C>A (p.Thr1286Lys) c.3830C>A (p.Thr1277Lys) c.3776C>A (p.Thr1259Lys) c.3176C>A (p.Thr1059Lys) c.4124C>A (p.Thr1375Lys) c.4121C>A (p.Thr1374Lys) c.4040C>A (p.Thr1347Lys) c.3971C>A (p.Thr1324Lys) c.3839C>A (p.Thr1280Lys) c.3707C>A (p.Thr1236Lys) | |
20 | g.32436572C>G | CA408563950 | ASXL1 | c.3860C>G (p.Thr1287Arg) c.3677C>G (p.Thr1226Arg) n.6213C>G c.1870-1858C>G (n.1870-1858C>G) c.3845C>G (p.Thr1282Arg) c.3857C>G (p.Thr1286Arg) c.3830C>G (p.Thr1277Arg) c.3776C>G (p.Thr1259Arg) c.3176C>G (p.Thr1059Arg) c.4124C>G (p.Thr1375Arg) c.4121C>G (p.Thr1374Arg) c.4040C>G (p.Thr1347Arg) c.3971C>G (p.Thr1324Arg) c.3839C>G (p.Thr1280Arg) c.3707C>G (p.Thr1236Arg) | |
20 | g.32436572C>T | CA408563951 | ASXL1 | c.3860C>T (p.Thr1287Ile) c.3677C>T (p.Thr1226Ile) n.6213C>T c.1870-1858C>T (n.1870-1858C>T) c.3845C>T (p.Thr1282Ile) c.3857C>T (p.Thr1286Ile) c.3830C>T (p.Thr1277Ile) c.3776C>T (p.Thr1259Ile) c.3176C>T (p.Thr1059Ile) c.4124C>T (p.Thr1375Ile) c.4121C>T (p.Thr1374Ile) c.4040C>T (p.Thr1347Ile) c.3971C>T (p.Thr1324Ile) c.3839C>T (p.Thr1280Ile) c.3707C>T (p.Thr1236Ile) | |
20 | g.32436573A>C | CA510467449 | ASXL1 | c.3861A>C (p.Thr1287=) c.3678A>C (p.Thr1226=) n.6214A>C c.1870-1857A>C (n.1870-1857A>C) c.3846A>C (p.Thr1282=) c.3858A>C (p.Thr1286=) c.3831A>C (p.Thr1277=) c.3777A>C (p.Thr1259=) c.3177A>C (p.Thr1059=) c.4125A>C (p.Thr1375=) c.4122A>C (p.Thr1374=) c.4041A>C (p.Thr1347=) c.3972A>C (p.Thr1324=) c.3840A>C (p.Thr1280=) c.3708A>C (p.Thr1236=) | |
20 | g.32436573A>G | CA510467450 | ASXL1 | c.3861A>G (p.Thr1287=) c.3678A>G (p.Thr1226=) n.6214A>G c.1870-1857A>G (n.1870-1857A>G) c.3846A>G (p.Thr1282=) c.3858A>G (p.Thr1286=) c.3831A>G (p.Thr1277=) c.3777A>G (p.Thr1259=) c.3177A>G (p.Thr1059=) c.4125A>G (p.Thr1375=) c.4122A>G (p.Thr1374=) c.4041A>G (p.Thr1347=) c.3972A>G (p.Thr1324=) c.3840A>G (p.Thr1280=) c.3708A>G (p.Thr1236=) | gnomAD v4 |
20 | g.32436573A>T | CA510467451 | ASXL1 | c.3861A>T (p.Thr1287=) c.3678A>T (p.Thr1226=) n.6214A>T c.1870-1857A>T (n.1870-1857A>T) c.3846A>T (p.Thr1282=) c.3858A>T (p.Thr1286=) c.3831A>T (p.Thr1277=) c.3777A>T (p.Thr1259=) c.3177A>T (p.Thr1059=) c.4125A>T (p.Thr1375=) c.4122A>T (p.Thr1374=) c.4041A>T (p.Thr1347=) c.3972A>T (p.Thr1324=) c.3840A>T (p.Thr1280=) c.3708A>T (p.Thr1236=) | |
20 | g.32436574G>A | CA408563952 | ASXL1 | c.3862G>A (p.Gly1288Ser) c.3679G>A (p.Gly1227Ser) n.6215G>A c.1870-1856G>A (n.1870-1856G>A) c.3847G>A (p.Gly1283Ser) c.3859G>A (p.Gly1287Ser) c.3832G>A (p.Gly1278Ser) c.3778G>A (p.Gly1260Ser) c.3178G>A (p.Gly1060Ser) c.4126G>A (p.Gly1376Ser) c.4123G>A (p.Gly1375Ser) c.4042G>A (p.Gly1348Ser) c.3973G>A (p.Gly1325Ser) c.3841G>A (p.Gly1281Ser) c.3709G>A (p.Gly1237Ser) | dbSNP |
20 | g.32436574G>C | CA408563953 | ASXL1 | c.3862G>C (p.Gly1288Arg) c.3679G>C (p.Gly1227Arg) n.6215G>C c.1870-1856G>C (n.1870-1856G>C) c.3847G>C (p.Gly1283Arg) c.3859G>C (p.Gly1287Arg) c.3832G>C (p.Gly1278Arg) c.3778G>C (p.Gly1260Arg) c.3178G>C (p.Gly1060Arg) c.4126G>C (p.Gly1376Arg) c.4123G>C (p.Gly1375Arg) c.4042G>C (p.Gly1348Arg) c.3973G>C (p.Gly1325Arg) c.3841G>C (p.Gly1281Arg) c.3709G>C (p.Gly1237Arg) | |
20 | g.32436574G>T | CA408563954 | ASXL1 | c.3862G>T (p.Gly1288Cys) c.3679G>T (p.Gly1227Cys) n.6215G>T c.1870-1856G>T (n.1870-1856G>T) c.3847G>T (p.Gly1283Cys) c.3859G>T (p.Gly1287Cys) c.3832G>T (p.Gly1278Cys) c.3778G>T (p.Gly1260Cys) c.3178G>T (p.Gly1060Cys) c.4126G>T (p.Gly1376Cys) c.4123G>T (p.Gly1375Cys) c.4042G>T (p.Gly1348Cys) c.3973G>T (p.Gly1325Cys) c.3841G>T (p.Gly1281Cys) c.3709G>T (p.Gly1237Cys) | |
20 | g.32436575G>A | CA408563955 | ASXL1 | c.3863G>A (p.Gly1288Asp) c.3680G>A (p.Gly1227Asp) n.6216G>A c.1870-1855G>A (n.1870-1855G>A) c.3848G>A (p.Gly1283Asp) c.3860G>A (p.Gly1287Asp) c.3833G>A (p.Gly1278Asp) c.3779G>A (p.Gly1260Asp) c.3179G>A (p.Gly1060Asp) c.4127G>A (p.Gly1376Asp) c.4124G>A (p.Gly1375Asp) c.4043G>A (p.Gly1348Asp) c.3974G>A (p.Gly1325Asp) c.3842G>A (p.Gly1281Asp) c.3710G>A (p.Gly1237Asp) | dbSNP COSMIC |
20 | g.32436575G>C | CA408563956 | ASXL1 | c.3863G>C (p.Gly1288Ala) c.3680G>C (p.Gly1227Ala) n.6216G>C c.1870-1855G>C (n.1870-1855G>C) c.3848G>C (p.Gly1283Ala) c.3860G>C (p.Gly1287Ala) c.3833G>C (p.Gly1278Ala) c.3779G>C (p.Gly1260Ala) c.3179G>C (p.Gly1060Ala) c.4127G>C (p.Gly1376Ala) c.4124G>C (p.Gly1375Ala) c.4043G>C (p.Gly1348Ala) c.3974G>C (p.Gly1325Ala) c.3842G>C (p.Gly1281Ala) c.3710G>C (p.Gly1237Ala) | |
20 | g.32436575G= | CA2360293773 | ASXL1 | c.3863G= (p.Gly1288=) c.3680G= (p.Gly1227=) n.6216G= c.1870-1855G= (n.1870-1855G=) c.3848G= (p.Gly1283=) c.3860G= (p.Gly1287=) c.3833G= (p.Gly1278=) c.3779G= (p.Gly1260=) c.3179G= (p.Gly1060=) c.4127G= (p.Gly1376=) c.4124G= (p.Gly1375=) c.4043G= (p.Gly1348=) c.3974G= (p.Gly1325=) c.3842G= (p.Gly1281=) c.3710G= (p.Gly1237=) | |
20 | g.32436575G>T | CA408563957 | ASXL1 | c.3863G>T (p.Gly1288Val) c.3680G>T (p.Gly1227Val) n.6216G>T c.1870-1855G>T (n.1870-1855G>T) c.3848G>T (p.Gly1283Val) c.3860G>T (p.Gly1287Val) c.3833G>T (p.Gly1278Val) c.3779G>T (p.Gly1260Val) c.3179G>T (p.Gly1060Val) c.4127G>T (p.Gly1376Val) c.4124G>T (p.Gly1375Val) c.4043G>T (p.Gly1348Val) c.3974G>T (p.Gly1325Val) c.3842G>T (p.Gly1281Val) c.3710G>T (p.Gly1237Val) | gnomAD v4 |
20 | g.32436576T>A | CA510467452 | ASXL1 | c.3864T>A (p.Gly1288=) c.3681T>A (p.Gly1227=) n.6217T>A c.1870-1854T>A (n.1870-1854T>A) c.3849T>A (p.Gly1283=) c.3861T>A (p.Gly1287=) c.3834T>A (p.Gly1278=) c.3780T>A (p.Gly1260=) c.3180T>A (p.Gly1060=) c.4128T>A (p.Gly1376=) c.4125T>A (p.Gly1375=) c.4044T>A (p.Gly1348=) c.3975T>A (p.Gly1325=) c.3843T>A (p.Gly1281=) c.3711T>A (p.Gly1237=) | dbSNP |
20 | g.32436576T>C | CA510467453 | ASXL1 | c.3864T>C (p.Gly1288=) c.3681T>C (p.Gly1227=) n.6217T>C c.1870-1854T>C (n.1870-1854T>C) c.3849T>C (p.Gly1283=) c.3861T>C (p.Gly1287=) c.3834T>C (p.Gly1278=) c.3780T>C (p.Gly1260=) c.3180T>C (p.Gly1060=) c.4128T>C (p.Gly1376=) c.4125T>C (p.Gly1375=) c.4044T>C (p.Gly1348=) c.3975T>C (p.Gly1325=) c.3843T>C (p.Gly1281=) c.3711T>C (p.Gly1237=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.32436576T>G | CA510467454 | ASXL1 | c.3864T>G (p.Gly1288=) c.3681T>G (p.Gly1227=) n.6217T>G c.1870-1854T>G (n.1870-1854T>G) c.3849T>G (p.Gly1283=) c.3861T>G (p.Gly1287=) c.3834T>G (p.Gly1278=) c.3780T>G (p.Gly1260=) c.3180T>G (p.Gly1060=) c.4128T>G (p.Gly1376=) c.4125T>G (p.Gly1375=) c.4044T>G (p.Gly1348=) c.3975T>G (p.Gly1325=) c.3843T>G (p.Gly1281=) c.3711T>G (p.Gly1237=) | |
20 | g.32436576T= | CA2360293774 | ASXL1 | c.3864T= (p.Gly1288=) c.3681T= (p.Gly1227=) n.6217T= c.1870-1854T= (n.1870-1854T=) c.3849T= (p.Gly1283=) c.3861T= (p.Gly1287=) c.3834T= (p.Gly1278=) c.3780T= (p.Gly1260=) c.3180T= (p.Gly1060=) c.4128T= (p.Gly1376=) c.4125T= (p.Gly1375=) c.4044T= (p.Gly1348=) c.3975T= (p.Gly1325=) c.3843T= (p.Gly1281=) c.3711T= (p.Gly1237=) | |
20 | g.32436577C>A | CA510467455 | ASXL1 | c.3865C>A (p.Arg1289=) c.3682C>A (p.Arg1228=) n.6218C>A c.1870-1853C>A (n.1870-1853C>A) c.3850C>A (p.Arg1284=) c.3862C>A (p.Arg1288=) c.3835C>A (p.Arg1279=) c.3781C>A (p.Arg1261=) c.3181C>A (p.Arg1061=) c.4129C>A (p.Arg1377=) c.4126C>A (p.Arg1376=) c.4045C>A (p.Arg1349=) c.3976C>A (p.Arg1326=) c.3844C>A (p.Arg1282=) c.3712C>A (p.Arg1238=) | |
20 | g.32436577C= | CA2360293775 | ASXL1 | c.3865C= (p.Arg1289=) c.3682C= (p.Arg1228=) n.6218C= c.1870-1853C= (n.1870-1853C=) c.3850C= (p.Arg1284=) c.3862C= (p.Arg1288=) c.3835C= (p.Arg1279=) c.3781C= (p.Arg1261=) c.3181C= (p.Arg1061=) c.4129C= (p.Arg1377=) c.4126C= (p.Arg1376=) c.4045C= (p.Arg1349=) c.3976C= (p.Arg1326=) c.3844C= (p.Arg1282=) c.3712C= (p.Arg1238=) | |
20 | g.32436577C>G | CA408563958 | ASXL1 | c.3865C>G (p.Arg1289Gly) c.3682C>G (p.Arg1228Gly) n.6218C>G c.1870-1853C>G (n.1870-1853C>G) c.3850C>G (p.Arg1284Gly) c.3862C>G (p.Arg1288Gly) c.3835C>G (p.Arg1279Gly) c.3781C>G (p.Arg1261Gly) c.3181C>G (p.Arg1061Gly) c.4129C>G (p.Arg1377Gly) c.4126C>G (p.Arg1376Gly) c.4045C>G (p.Arg1349Gly) c.3976C>G (p.Arg1326Gly) c.3844C>G (p.Arg1282Gly) c.3712C>G (p.Arg1238Gly) | |
20 | g.32436577C>T | CA9808917 | ASXL1 | c.3865C>T (p.Arg1289Trp) c.3682C>T (p.Arg1228Trp) n.6218C>T c.1870-1853C>T (n.1870-1853C>T) c.3850C>T (p.Arg1284Trp) c.3862C>T (p.Arg1288Trp) c.3835C>T (p.Arg1279Trp) c.3781C>T (p.Arg1261Trp) c.3181C>T (p.Arg1061Trp) c.4129C>T (p.Arg1377Trp) c.4126C>T (p.Arg1376Trp) c.4045C>T (p.Arg1349Trp) c.3976C>T (p.Arg1326Trp) c.3844C>T (p.Arg1282Trp) c.3712C>T (p.Arg1238Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.32436578G>A | CA9808918 | ASXL1 | c.3866G>A (p.Arg1289Gln) c.3683G>A (p.Arg1228Gln) n.6219G>A c.1870-1852G>A (n.1870-1852G>A) c.3851G>A (p.Arg1284Gln) c.3863G>A (p.Arg1288Gln) c.3836G>A (p.Arg1279Gln) c.3782G>A (p.Arg1261Gln) c.3182G>A (p.Arg1061Gln) c.4130G>A (p.Arg1377Gln) c.4127G>A (p.Arg1376Gln) c.4046G>A (p.Arg1349Gln) c.3977G>A (p.Arg1326Gln) c.3845G>A (p.Arg1282Gln) c.3713G>A (p.Arg1238Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436578G>C | CA408563960 | ASXL1 | c.3866G>C (p.Arg1289Pro) c.3683G>C (p.Arg1228Pro) n.6219G>C c.1870-1852G>C (n.1870-1852G>C) c.3851G>C (p.Arg1284Pro) c.3863G>C (p.Arg1288Pro) c.3836G>C (p.Arg1279Pro) c.3782G>C (p.Arg1261Pro) c.3182G>C (p.Arg1061Pro) c.4130G>C (p.Arg1377Pro) c.4127G>C (p.Arg1376Pro) c.4046G>C (p.Arg1349Pro) c.3977G>C (p.Arg1326Pro) c.3845G>C (p.Arg1282Pro) c.3713G>C (p.Arg1238Pro) | |
20 | g.32436578G= | CA2360293776 | ASXL1 | c.3866G= (p.Arg1289=) c.3683G= (p.Arg1228=) n.6219G= c.1870-1852G= (n.1870-1852G=) c.3851G= (p.Arg1284=) c.3863G= (p.Arg1288=) c.3836G= (p.Arg1279=) c.3782G= (p.Arg1261=) c.3182G= (p.Arg1061=) c.4130G= (p.Arg1377=) c.4127G= (p.Arg1376=) c.4046G= (p.Arg1349=) c.3977G= (p.Arg1326=) c.3845G= (p.Arg1282=) c.3713G= (p.Arg1238=) | |
20 | g.32436578G>T | CA408563959 | ASXL1 | c.3866G>T (p.Arg1289Leu) c.3683G>T (p.Arg1228Leu) n.6219G>T c.1870-1852G>T (n.1870-1852G>T) c.3851G>T (p.Arg1284Leu) c.3863G>T (p.Arg1288Leu) c.3836G>T (p.Arg1279Leu) c.3782G>T (p.Arg1261Leu) c.3182G>T (p.Arg1061Leu) c.4130G>T (p.Arg1377Leu) c.4127G>T (p.Arg1376Leu) c.4046G>T (p.Arg1349Leu) c.3977G>T (p.Arg1326Leu) c.3845G>T (p.Arg1282Leu) c.3713G>T (p.Arg1238Leu) | |
20 | g.32436579G>A | CA510467456 | ASXL1 | c.3867G>A (p.Arg1289=) c.3684G>A (p.Arg1228=) n.6220G>A c.1870-1851G>A (n.1870-1851G>A) c.3852G>A (p.Arg1284=) c.3864G>A (p.Arg1288=) c.3837G>A (p.Arg1279=) c.3783G>A (p.Arg1261=) c.3183G>A (p.Arg1061=) c.4131G>A (p.Arg1377=) c.4128G>A (p.Arg1376=) c.4047G>A (p.Arg1349=) c.3978G>A (p.Arg1326=) c.3846G>A (p.Arg1282=) c.3714G>A (p.Arg1238=) | dbSNP |
20 | g.32436579G>C | CA510467457 | ASXL1 | c.3867G>C (p.Arg1289=) c.3684G>C (p.Arg1228=) n.6220G>C c.1870-1851G>C (n.1870-1851G>C) c.3852G>C (p.Arg1284=) c.3864G>C (p.Arg1288=) c.3837G>C (p.Arg1279=) c.3783G>C (p.Arg1261=) c.3183G>C (p.Arg1061=) c.4131G>C (p.Arg1377=) c.4128G>C (p.Arg1376=) c.4047G>C (p.Arg1349=) c.3978G>C (p.Arg1326=) c.3846G>C (p.Arg1282=) c.3714G>C (p.Arg1238=) | |
20 | g.32436579G>T | CA510467458 | ASXL1 | c.3867G>T (p.Arg1289=) c.3684G>T (p.Arg1228=) n.6220G>T c.1870-1851G>T (n.1870-1851G>T) c.3852G>T (p.Arg1284=) c.3864G>T (p.Arg1288=) c.3837G>T (p.Arg1279=) c.3783G>T (p.Arg1261=) c.3183G>T (p.Arg1061=) c.4131G>T (p.Arg1377=) c.4128G>T (p.Arg1376=) c.4047G>T (p.Arg1349=) c.3978G>T (p.Arg1326=) c.3846G>T (p.Arg1282=) c.3714G>T (p.Arg1238=) | |
20 | g.32436580G>A | CA408563963 | ASXL1 | c.3868G>A (p.Ala1290Thr) c.3685G>A (p.Ala1229Thr) n.6221G>A c.1870-1850G>A (n.1870-1850G>A) c.3853G>A (p.Ala1285Thr) c.3865G>A (p.Ala1289Thr) c.3838G>A (p.Ala1280Thr) c.3784G>A (p.Ala1262Thr) c.3184G>A (p.Ala1062Thr) c.4132G>A (p.Ala1378Thr) c.4129G>A (p.Ala1377Thr) c.4048G>A (p.Ala1350Thr) c.3979G>A (p.Ala1327Thr) c.3847G>A (p.Ala1283Thr) c.3715G>A (p.Ala1239Thr) | ClinVar dbSNP |
20 | g.32436580G>C | CA408563961 | ASXL1 | c.3868G>C (p.Ala1290Pro) c.3685G>C (p.Ala1229Pro) n.6221G>C c.1870-1850G>C (n.1870-1850G>C) c.3853G>C (p.Ala1285Pro) c.3865G>C (p.Ala1289Pro) c.3838G>C (p.Ala1280Pro) c.3784G>C (p.Ala1262Pro) c.3184G>C (p.Ala1062Pro) c.4132G>C (p.Ala1378Pro) c.4129G>C (p.Ala1377Pro) c.4048G>C (p.Ala1350Pro) c.3979G>C (p.Ala1327Pro) c.3847G>C (p.Ala1283Pro) c.3715G>C (p.Ala1239Pro) | dbSNP |
20 | g.32436580G>T | CA408563962 | ASXL1 | c.3868G>T (p.Ala1290Ser) c.3685G>T (p.Ala1229Ser) n.6221G>T c.1870-1850G>T (n.1870-1850G>T) c.3853G>T (p.Ala1285Ser) c.3865G>T (p.Ala1289Ser) c.3838G>T (p.Ala1280Ser) c.3784G>T (p.Ala1262Ser) c.3184G>T (p.Ala1062Ser) c.4132G>T (p.Ala1378Ser) c.4129G>T (p.Ala1377Ser) c.4048G>T (p.Ala1350Ser) c.3979G>T (p.Ala1327Ser) c.3847G>T (p.Ala1283Ser) c.3715G>T (p.Ala1239Ser) | |
20 | g.32436581C>A | CA408563964 | ASXL1 | c.3869C>A (p.Ala1290Asp) c.3686C>A (p.Ala1229Asp) n.6222C>A c.1870-1849C>A (n.1870-1849C>A) c.3854C>A (p.Ala1285Asp) c.3866C>A (p.Ala1289Asp) c.3839C>A (p.Ala1280Asp) c.3785C>A (p.Ala1262Asp) c.3185C>A (p.Ala1062Asp) c.4133C>A (p.Ala1378Asp) c.4130C>A (p.Ala1377Asp) c.4049C>A (p.Ala1350Asp) c.3980C>A (p.Ala1327Asp) c.3848C>A (p.Ala1283Asp) c.3716C>A (p.Ala1239Asp) | |
20 | g.32436581C= | CA2360293777 | ASXL1 | c.3869C= (p.Ala1290=) c.3686C= (p.Ala1229=) n.6222C= c.1870-1849C= (n.1870-1849C=) c.3854C= (p.Ala1285=) c.3866C= (p.Ala1289=) c.3839C= (p.Ala1280=) c.3785C= (p.Ala1262=) c.3185C= (p.Ala1062=) c.4133C= (p.Ala1378=) c.4130C= (p.Ala1377=) c.4049C= (p.Ala1350=) c.3980C= (p.Ala1327=) c.3848C= (p.Ala1283=) c.3716C= (p.Ala1239=) | |
20 | g.32436581C>G | CA408563965 | ASXL1 | c.3869C>G (p.Ala1290Gly) c.3686C>G (p.Ala1229Gly) n.6222C>G c.1870-1849C>G (n.1870-1849C>G) c.3854C>G (p.Ala1285Gly) c.3866C>G (p.Ala1289Gly) c.3839C>G (p.Ala1280Gly) c.3785C>G (p.Ala1262Gly) c.3185C>G (p.Ala1062Gly) c.4133C>G (p.Ala1378Gly) c.4130C>G (p.Ala1377Gly) c.4049C>G (p.Ala1350Gly) c.3980C>G (p.Ala1327Gly) c.3848C>G (p.Ala1283Gly) c.3716C>G (p.Ala1239Gly) | |
20 | g.32436581C>T | CA9808919 | ASXL1 | c.3869C>T (p.Ala1290Val) c.3686C>T (p.Ala1229Val) n.6222C>T c.1870-1849C>T (n.1870-1849C>T) c.3854C>T (p.Ala1285Val) c.3866C>T (p.Ala1289Val) c.3839C>T (p.Ala1280Val) c.3785C>T (p.Ala1262Val) c.3185C>T (p.Ala1062Val) c.4133C>T (p.Ala1378Val) c.4130C>T (p.Ala1377Val) c.4049C>T (p.Ala1350Val) c.3980C>T (p.Ala1327Val) c.3848C>T (p.Ala1283Val) c.3716C>T (p.Ala1239Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436582C>A | CA510467459 | ASXL1 | c.3870C>A (p.Ala1290=) c.3687C>A (p.Ala1229=) n.6223C>A c.1870-1848C>A (n.1870-1848C>A) c.3855C>A (p.Ala1285=) c.3867C>A (p.Ala1289=) c.3840C>A (p.Ala1280=) c.3786C>A (p.Ala1262=) c.3186C>A (p.Ala1062=) c.4134C>A (p.Ala1378=) c.4131C>A (p.Ala1377=) c.4050C>A (p.Ala1350=) c.3981C>A (p.Ala1327=) c.3849C>A (p.Ala1283=) c.3717C>A (p.Ala1239=) | |
20 | g.32436582C>G | CA510467460 | ASXL1 | c.3870C>G (p.Ala1290=) c.3687C>G (p.Ala1229=) n.6223C>G c.1870-1848C>G (n.1870-1848C>G) c.3855C>G (p.Ala1285=) c.3867C>G (p.Ala1289=) c.3840C>G (p.Ala1280=) c.3786C>G (p.Ala1262=) c.3186C>G (p.Ala1062=) c.4134C>G (p.Ala1378=) c.4131C>G (p.Ala1377=) c.4050C>G (p.Ala1350=) c.3981C>G (p.Ala1327=) c.3849C>G (p.Ala1283=) c.3717C>G (p.Ala1239=) | dbSNP |
20 | g.32436582C>T | CA510467461 | ASXL1 | c.3870C>T (p.Ala1290=) c.3687C>T (p.Ala1229=) n.6223C>T c.1870-1848C>T (n.1870-1848C>T) c.3855C>T (p.Ala1285=) c.3867C>T (p.Ala1289=) c.3840C>T (p.Ala1280=) c.3786C>T (p.Ala1262=) c.3186C>T (p.Ala1062=) c.4134C>T (p.Ala1378=) c.4131C>T (p.Ala1377=) c.4050C>T (p.Ala1350=) c.3981C>T (p.Ala1327=) c.3849C>T (p.Ala1283=) c.3717C>T (p.Ala1239=) | dbSNP |
20 | g.32436583C>A | CA408563966 | ASXL1 | c.3871C>A (p.Leu1291Met) c.3688C>A (p.Leu1230Met) n.6224C>A c.1870-1847C>A (n.1870-1847C>A) c.3856C>A (p.Leu1286Met) c.3868C>A (p.Leu1290Met) c.3841C>A (p.Leu1281Met) c.3787C>A (p.Leu1263Met) c.3187C>A (p.Leu1063Met) c.4135C>A (p.Leu1379Met) c.4132C>A (p.Leu1378Met) c.4051C>A (p.Leu1351Met) c.3982C>A (p.Leu1328Met) c.3850C>A (p.Leu1284Met) c.3718C>A (p.Leu1240Met) | |
20 | g.32436583C>G | CA408563967 | ASXL1 | c.3871C>G (p.Leu1291Val) c.3688C>G (p.Leu1230Val) n.6224C>G c.1870-1847C>G (n.1870-1847C>G) c.3856C>G (p.Leu1286Val) c.3868C>G (p.Leu1290Val) c.3841C>G (p.Leu1281Val) c.3787C>G (p.Leu1263Val) c.3187C>G (p.Leu1063Val) c.4135C>G (p.Leu1379Val) c.4132C>G (p.Leu1378Val) c.4051C>G (p.Leu1351Val) c.3982C>G (p.Leu1328Val) c.3850C>G (p.Leu1284Val) c.3718C>G (p.Leu1240Val) | |
20 | g.32436583C>T | CA510467462 | ASXL1 | c.3871C>T (p.Leu1291=) c.3688C>T (p.Leu1230=) n.6224C>T c.1870-1847C>T (n.1870-1847C>T) c.3856C>T (p.Leu1286=) c.3868C>T (p.Leu1290=) c.3841C>T (p.Leu1281=) c.3787C>T (p.Leu1263=) c.3187C>T (p.Leu1063=) c.4135C>T (p.Leu1379=) c.4132C>T (p.Leu1378=) c.4051C>T (p.Leu1351=) c.3982C>T (p.Leu1328=) c.3850C>T (p.Leu1284=) c.3718C>T (p.Leu1240=) | |
20 | g.32436584T>A | CA408563968 | ASXL1 | c.3872T>A (p.Leu1291Gln) c.3689T>A (p.Leu1230Gln) n.6225T>A c.1870-1846T>A (n.1870-1846T>A) c.3857T>A (p.Leu1286Gln) c.3869T>A (p.Leu1290Gln) c.3842T>A (p.Leu1281Gln) c.3788T>A (p.Leu1263Gln) c.3188T>A (p.Leu1063Gln) c.4136T>A (p.Leu1379Gln) c.4133T>A (p.Leu1378Gln) c.4052T>A (p.Leu1351Gln) c.3983T>A (p.Leu1328Gln) c.3851T>A (p.Leu1284Gln) c.3719T>A (p.Leu1240Gln) | |
20 | g.32436584T>C | CA408563969 | ASXL1 | c.3872T>C (p.Leu1291Pro) c.3689T>C (p.Leu1230Pro) n.6225T>C c.1870-1846T>C (n.1870-1846T>C) c.3857T>C (p.Leu1286Pro) c.3869T>C (p.Leu1290Pro) c.3842T>C (p.Leu1281Pro) c.3788T>C (p.Leu1263Pro) c.3188T>C (p.Leu1063Pro) c.4136T>C (p.Leu1379Pro) c.4133T>C (p.Leu1378Pro) c.4052T>C (p.Leu1351Pro) c.3983T>C (p.Leu1328Pro) c.3851T>C (p.Leu1284Pro) c.3719T>C (p.Leu1240Pro) | |
20 | g.32436584T>G | CA408563970 | ASXL1 | c.3872T>G (p.Leu1291Arg) c.3689T>G (p.Leu1230Arg) n.6225T>G c.1870-1846T>G (n.1870-1846T>G) c.3857T>G (p.Leu1286Arg) c.3869T>G (p.Leu1290Arg) c.3842T>G (p.Leu1281Arg) c.3788T>G (p.Leu1263Arg) c.3188T>G (p.Leu1063Arg) c.4136T>G (p.Leu1379Arg) c.4133T>G (p.Leu1378Arg) c.4052T>G (p.Leu1351Arg) c.3983T>G (p.Leu1328Arg) c.3851T>G (p.Leu1284Arg) c.3719T>G (p.Leu1240Arg) | |
20 | g.32436585G>A | CA510467463 | ASXL1 | c.3873G>A (p.Leu1291=) c.3690G>A (p.Leu1230=) n.6226G>A c.1870-1845G>A (n.1870-1845G>A) c.3858G>A (p.Leu1286=) c.3870G>A (p.Leu1290=) c.3843G>A (p.Leu1281=) c.3789G>A (p.Leu1263=) c.3189G>A (p.Leu1063=) c.4137G>A (p.Leu1379=) c.4134G>A (p.Leu1378=) c.4053G>A (p.Leu1351=) c.3984G>A (p.Leu1328=) c.3852G>A (p.Leu1284=) c.3720G>A (p.Leu1240=) | gnomAD v4 |
20 | g.32436585G>C | CA510467464 | ASXL1 | c.3873G>C (p.Leu1291=) c.3690G>C (p.Leu1230=) n.6226G>C c.1870-1845G>C (n.1870-1845G>C) c.3858G>C (p.Leu1286=) c.3870G>C (p.Leu1290=) c.3843G>C (p.Leu1281=) c.3789G>C (p.Leu1263=) c.3189G>C (p.Leu1063=) c.4137G>C (p.Leu1379=) c.4134G>C (p.Leu1378=) c.4053G>C (p.Leu1351=) c.3984G>C (p.Leu1328=) c.3852G>C (p.Leu1284=) c.3720G>C (p.Leu1240=) | |
20 | g.32436585G>T | CA510467465 | ASXL1 | c.3873G>T (p.Leu1291=) c.3690G>T (p.Leu1230=) n.6226G>T c.1870-1845G>T (n.1870-1845G>T) c.3858G>T (p.Leu1286=) c.3870G>T (p.Leu1290=) c.3843G>T (p.Leu1281=) c.3789G>T (p.Leu1263=) c.3189G>T (p.Leu1063=) c.4137G>T (p.Leu1379=) c.4134G>T (p.Leu1378=) c.4053G>T (p.Leu1351=) c.3984G>T (p.Leu1328=) c.3852G>T (p.Leu1284=) c.3720G>T (p.Leu1240=) | |
20 | g.32436586G>A | CA408563971 | ASXL1 | c.3874G>A (p.Gly1292Ser) c.3691G>A (p.Gly1231Ser) n.6227G>A c.1870-1844G>A (n.1870-1844G>A) c.3859G>A (p.Gly1287Ser) c.3871G>A (p.Gly1291Ser) c.3844G>A (p.Gly1282Ser) c.3790G>A (p.Gly1264Ser) c.3190G>A (p.Gly1064Ser) c.4138G>A (p.Gly1380Ser) c.4135G>A (p.Gly1379Ser) c.4054G>A (p.Gly1352Ser) c.3985G>A (p.Gly1329Ser) c.3853G>A (p.Gly1285Ser) c.3721G>A (p.Gly1241Ser) | |
20 | g.32436586G>C | CA408563972 | ASXL1 | c.3874G>C (p.Gly1292Arg) c.3691G>C (p.Gly1231Arg) n.6227G>C c.1870-1844G>C (n.1870-1844G>C) c.3859G>C (p.Gly1287Arg) c.3871G>C (p.Gly1291Arg) c.3844G>C (p.Gly1282Arg) c.3790G>C (p.Gly1264Arg) c.3190G>C (p.Gly1064Arg) c.4138G>C (p.Gly1380Arg) c.4135G>C (p.Gly1379Arg) c.4054G>C (p.Gly1352Arg) c.3985G>C (p.Gly1329Arg) c.3853G>C (p.Gly1285Arg) c.3721G>C (p.Gly1241Arg) | dbSNP |
20 | g.32436586G>T | CA408563973 | ASXL1 | c.3874G>T (p.Gly1292Cys) c.3691G>T (p.Gly1231Cys) n.6227G>T c.1870-1844G>T (n.1870-1844G>T) c.3859G>T (p.Gly1287Cys) c.3871G>T (p.Gly1291Cys) c.3844G>T (p.Gly1282Cys) c.3790G>T (p.Gly1264Cys) c.3190G>T (p.Gly1064Cys) c.4138G>T (p.Gly1380Cys) c.4135G>T (p.Gly1379Cys) c.4054G>T (p.Gly1352Cys) c.3985G>T (p.Gly1329Cys) c.3853G>T (p.Gly1285Cys) c.3721G>T (p.Gly1241Cys) | dbSNP |
20 | g.32436587G>A | CA408563975 | ASXL1 | c.3875G>A (p.Gly1292Asp) c.3692G>A (p.Gly1231Asp) n.6228G>A c.1870-1843G>A (n.1870-1843G>A) c.3860G>A (p.Gly1287Asp) c.3872G>A (p.Gly1291Asp) c.3845G>A (p.Gly1282Asp) c.3791G>A (p.Gly1264Asp) c.3191G>A (p.Gly1064Asp) c.4139G>A (p.Gly1380Asp) c.4136G>A (p.Gly1379Asp) c.4055G>A (p.Gly1352Asp) c.3986G>A (p.Gly1329Asp) c.3854G>A (p.Gly1285Asp) c.3722G>A (p.Gly1241Asp) | gnomAD v4 |
20 | g.32436587G>C | CA408563976 | ASXL1 | c.3875G>C (p.Gly1292Ala) c.3692G>C (p.Gly1231Ala) n.6228G>C c.1870-1843G>C (n.1870-1843G>C) c.3860G>C (p.Gly1287Ala) c.3872G>C (p.Gly1291Ala) c.3845G>C (p.Gly1282Ala) c.3791G>C (p.Gly1264Ala) c.3191G>C (p.Gly1064Ala) c.4139G>C (p.Gly1380Ala) c.4136G>C (p.Gly1379Ala) c.4055G>C (p.Gly1352Ala) c.3986G>C (p.Gly1329Ala) c.3854G>C (p.Gly1285Ala) c.3722G>C (p.Gly1241Ala) | |
20 | g.32436587G= | CA2360293778 | ASXL1 | c.3875G= (p.Gly1292=) c.3692G= (p.Gly1231=) n.6228G= c.1870-1843G= (n.1870-1843G=) c.3860G= (p.Gly1287=) c.3872G= (p.Gly1291=) c.3845G= (p.Gly1282=) c.3791G= (p.Gly1264=) c.3191G= (p.Gly1064=) c.4139G= (p.Gly1380=) c.4136G= (p.Gly1379=) c.4055G= (p.Gly1352=) c.3986G= (p.Gly1329=) c.3854G= (p.Gly1285=) c.3722G= (p.Gly1241=) | |
20 | g.32436587G>T | CA408563974 | ASXL1 | c.3875G>T (p.Gly1292Val) c.3692G>T (p.Gly1231Val) n.6228G>T c.1870-1843G>T (n.1870-1843G>T) c.3860G>T (p.Gly1287Val) c.3872G>T (p.Gly1291Val) c.3845G>T (p.Gly1282Val) c.3791G>T (p.Gly1264Val) c.3191G>T (p.Gly1064Val) c.4139G>T (p.Gly1380Val) c.4136G>T (p.Gly1379Val) c.4055G>T (p.Gly1352Val) c.3986G>T (p.Gly1329Val) c.3854G>T (p.Gly1285Val) c.3722G>T (p.Gly1241Val) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436588T>A | CA510467466 | ASXL1 | c.3876T>A (p.Gly1292=) c.3693T>A (p.Gly1231=) n.6229T>A c.1870-1842T>A (n.1870-1842T>A) c.3861T>A (p.Gly1287=) c.3873T>A (p.Gly1291=) c.3846T>A (p.Gly1282=) c.3792T>A (p.Gly1264=) c.3192T>A (p.Gly1064=) c.4140T>A (p.Gly1380=) c.4137T>A (p.Gly1379=) c.4056T>A (p.Gly1352=) c.3987T>A (p.Gly1329=) c.3855T>A (p.Gly1285=) c.3723T>A (p.Gly1241=) | |
20 | g.32436588T>C | CA510467467 | ASXL1 | c.3876T>C (p.Gly1292=) c.3693T>C (p.Gly1231=) n.6229T>C c.1870-1842T>C (n.1870-1842T>C) c.3861T>C (p.Gly1287=) c.3873T>C (p.Gly1291=) c.3846T>C (p.Gly1282=) c.3792T>C (p.Gly1264=) c.3192T>C (p.Gly1064=) c.4140T>C (p.Gly1380=) c.4137T>C (p.Gly1379=) c.4056T>C (p.Gly1352=) c.3987T>C (p.Gly1329=) c.3855T>C (p.Gly1285=) c.3723T>C (p.Gly1241=) | |
20 | g.32436588T>G | CA510467468 | ASXL1 | c.3876T>G (p.Gly1292=) c.3693T>G (p.Gly1231=) n.6229T>G c.1870-1842T>G (n.1870-1842T>G) c.3861T>G (p.Gly1287=) c.3873T>G (p.Gly1291=) c.3846T>G (p.Gly1282=) c.3792T>G (p.Gly1264=) c.3192T>G (p.Gly1064=) c.4140T>G (p.Gly1380=) c.4137T>G (p.Gly1379=) c.4056T>G (p.Gly1352=) c.3987T>G (p.Gly1329=) c.3855T>G (p.Gly1285=) c.3723T>G (p.Gly1241=) | |
20 | g.32436589G>A | CA408563977 | ASXL1 | c.3877G>A (p.Asp1293Asn) c.3694G>A (p.Asp1232Asn) n.6230G>A c.1870-1841G>A (n.1870-1841G>A) c.3862G>A (p.Asp1288Asn) c.3874G>A (p.Asp1292Asn) c.3847G>A (p.Asp1283Asn) c.3793G>A (p.Asp1265Asn) c.3193G>A (p.Asp1065Asn) c.4141G>A (p.Asp1381Asn) c.4138G>A (p.Asp1380Asn) c.4057G>A (p.Asp1353Asn) c.3988G>A (p.Asp1330Asn) c.3856G>A (p.Asp1286Asn) c.3724G>A (p.Asp1242Asn) | dbSNP gnomAD v4 |
20 | g.32436589G>C | CA408563978 | ASXL1 | c.3877G>C (p.Asp1293His) c.3694G>C (p.Asp1232His) n.6230G>C c.1870-1841G>C (n.1870-1841G>C) c.3862G>C (p.Asp1288His) c.3874G>C (p.Asp1292His) c.3847G>C (p.Asp1283His) c.3793G>C (p.Asp1265His) c.3193G>C (p.Asp1065His) c.4141G>C (p.Asp1381His) c.4138G>C (p.Asp1380His) c.4057G>C (p.Asp1353His) c.3988G>C (p.Asp1330His) c.3856G>C (p.Asp1286His) c.3724G>C (p.Asp1242His) | |
20 | g.32436589G>T | CA408563979 | ASXL1 | c.3877G>T (p.Asp1293Tyr) c.3694G>T (p.Asp1232Tyr) n.6230G>T c.1870-1841G>T (n.1870-1841G>T) c.3862G>T (p.Asp1288Tyr) c.3874G>T (p.Asp1292Tyr) c.3847G>T (p.Asp1283Tyr) c.3793G>T (p.Asp1265Tyr) c.3193G>T (p.Asp1065Tyr) c.4141G>T (p.Asp1381Tyr) c.4138G>T (p.Asp1380Tyr) c.4057G>T (p.Asp1353Tyr) c.3988G>T (p.Asp1330Tyr) c.3856G>T (p.Asp1286Tyr) c.3724G>T (p.Asp1242Tyr) | |
20 | g.32436590A= | CA2360293779 | ASXL1 | c.3878A= (p.Asp1293=) c.3695A= (p.Asp1232=) n.6231A= c.1870-1840A= (n.1870-1840A=) c.3863A= (p.Asp1288=) c.3875A= (p.Asp1292=) c.3848A= (p.Asp1283=) c.3794A= (p.Asp1265=) c.3194A= (p.Asp1065=) c.4142A= (p.Asp1381=) c.4139A= (p.Asp1380=) c.4058A= (p.Asp1353=) c.3989A= (p.Asp1330=) c.3857A= (p.Asp1286=) c.3725A= (p.Asp1242=) | |
20 | g.32436590A>C | CA408563980 | ASXL1 | c.3878A>C (p.Asp1293Ala) c.3695A>C (p.Asp1232Ala) n.6231A>C c.1870-1840A>C (n.1870-1840A>C) c.3863A>C (p.Asp1288Ala) c.3875A>C (p.Asp1292Ala) c.3848A>C (p.Asp1283Ala) c.3794A>C (p.Asp1265Ala) c.3194A>C (p.Asp1065Ala) c.4142A>C (p.Asp1381Ala) c.4139A>C (p.Asp1380Ala) c.4058A>C (p.Asp1353Ala) c.3989A>C (p.Asp1330Ala) c.3857A>C (p.Asp1286Ala) c.3725A>C (p.Asp1242Ala) | |
20 | g.32436590A>G | CA408563981 | ASXL1 | c.3878A>G (p.Asp1293Gly) c.3695A>G (p.Asp1232Gly) n.6231A>G c.1870-1840A>G (n.1870-1840A>G) c.3863A>G (p.Asp1288Gly) c.3875A>G (p.Asp1292Gly) c.3848A>G (p.Asp1283Gly) c.3794A>G (p.Asp1265Gly) c.3194A>G (p.Asp1065Gly) c.4142A>G (p.Asp1381Gly) c.4139A>G (p.Asp1380Gly) c.4058A>G (p.Asp1353Gly) c.3989A>G (p.Asp1330Gly) c.3857A>G (p.Asp1286Gly) c.3725A>G (p.Asp1242Gly) | |
20 | g.32436590A>T | CA408563982 | ASXL1 | c.3878A>T (p.Asp1293Val) c.3695A>T (p.Asp1232Val) n.6231A>T c.1870-1840A>T (n.1870-1840A>T) c.3863A>T (p.Asp1288Val) c.3875A>T (p.Asp1292Val) c.3848A>T (p.Asp1283Val) c.3794A>T (p.Asp1265Val) c.3194A>T (p.Asp1065Val) c.4142A>T (p.Asp1381Val) c.4139A>T (p.Asp1380Val) c.4058A>T (p.Asp1353Val) c.3989A>T (p.Asp1330Val) c.3857A>T (p.Asp1286Val) c.3725A>T (p.Asp1242Val) | dbSNP |
20 | g.32436591T>A | CA408563983 | ASXL1 | c.3879T>A (p.Asp1293Glu) c.3696T>A (p.Asp1232Glu) n.6232T>A c.1870-1839T>A (n.1870-1839T>A) c.3864T>A (p.Asp1288Glu) c.3876T>A (p.Asp1292Glu) c.3849T>A (p.Asp1283Glu) c.3795T>A (p.Asp1265Glu) c.3195T>A (p.Asp1065Glu) c.4143T>A (p.Asp1381Glu) c.4140T>A (p.Asp1380Glu) c.4059T>A (p.Asp1353Glu) c.3990T>A (p.Asp1330Glu) c.3858T>A (p.Asp1286Glu) c.3726T>A (p.Asp1242Glu) | dbSNP |
20 | g.32436591T>C | CA510467469 | ASXL1 | c.3879T>C (p.Asp1293=) c.3696T>C (p.Asp1232=) n.6232T>C c.1870-1839T>C (n.1870-1839T>C) c.3864T>C (p.Asp1288=) c.3876T>C (p.Asp1292=) c.3849T>C (p.Asp1283=) c.3795T>C (p.Asp1265=) c.3195T>C (p.Asp1065=) c.4143T>C (p.Asp1381=) c.4140T>C (p.Asp1380=) c.4059T>C (p.Asp1353=) c.3990T>C (p.Asp1330=) c.3858T>C (p.Asp1286=) c.3726T>C (p.Asp1242=) | |
20 | g.32436591T>G | CA408563984 | ASXL1 | c.3879T>G (p.Asp1293Glu) c.3696T>G (p.Asp1232Glu) n.6232T>G c.1870-1839T>G (n.1870-1839T>G) c.3864T>G (p.Asp1288Glu) c.3876T>G (p.Asp1292Glu) c.3849T>G (p.Asp1283Glu) c.3795T>G (p.Asp1265Glu) c.3195T>G (p.Asp1065Glu) c.4143T>G (p.Asp1381Glu) c.4140T>G (p.Asp1380Glu) c.4059T>G (p.Asp1353Glu) c.3990T>G (p.Asp1330Glu) c.3858T>G (p.Asp1286Glu) c.3726T>G (p.Asp1242Glu) | |
20 | g.32436591_32436592delinsTC | CA2360293780 | ASXL1 | c.3879_3880delinsTC (p.Asp1293=) c.3696_3697delinsTC (p.Asp1232=) n.6232_6233delinsTC c.1870-1839_1870-1838delinsTC (n.1870-1839_1870-1838delinsTC) c.3864_3865delinsTC (p.Asp1288=) c.3876_3877delinsTC (p.Asp1292=) c.3849_3850delinsTC (p.Asp1283=) c.3795_3796delinsTC (p.Asp1265=) c.3195_3196delinsTC (p.Asp1065=) c.4143_4144delinsTC (p.Asp1381=) c.4140_4141delinsTC (p.Asp1380=) c.4059_4060delinsTC (p.Asp1353=) c.3990_3991delinsTC (p.Asp1330=) c.3858_3859delinsTC (p.Asp1286=) c.3726_3727delinsTC (p.Asp1242=) | |
20 | g.32436592del | CA635268569 | ASXL1 | c.3880del (p.Gln1294ArgfsTer?) c.3697del (p.Gln1233ArgfsTer?) n.6233del c.1870-1838del (n.1870-1838del) c.3865del (p.Gln1289ArgfsTer?) c.3877del (p.Gln1293ArgfsTer?) c.3850del (p.Gln1284ArgfsTer?) c.3796del (p.Gln1266ArgfsTer?) c.3196del (p.Gln1066ArgfsTer?) c.4144del (p.Gln1382ArgfsTer?) c.4141del (p.Gln1381ArgfsTer?) c.4060del (p.Gln1354ArgfsTer?) c.3991del (p.Gln1331ArgfsTer?) c.3859del (p.Gln1287ArgfsTer?) c.3727del (p.Gln1243ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436592C>A | CA408563985 | ASXL1 | c.3880C>A (p.Gln1294Lys) c.3697C>A (p.Gln1233Lys) n.6233C>A c.1870-1838C>A (n.1870-1838C>A) c.3865C>A (p.Gln1289Lys) c.3877C>A (p.Gln1293Lys) c.3850C>A (p.Gln1284Lys) c.3796C>A (p.Gln1266Lys) c.3196C>A (p.Gln1066Lys) c.4144C>A (p.Gln1382Lys) c.4141C>A (p.Gln1381Lys) c.4060C>A (p.Gln1354Lys) c.3991C>A (p.Gln1331Lys) c.3859C>A (p.Gln1287Lys) c.3727C>A (p.Gln1243Lys) | gnomAD v4 |
20 | g.32436592C>G | CA408563986 | ASXL1 | c.3880C>G (p.Gln1294Glu) c.3697C>G (p.Gln1233Glu) n.6233C>G c.1870-1838C>G (n.1870-1838C>G) c.3865C>G (p.Gln1289Glu) c.3877C>G (p.Gln1293Glu) c.3850C>G (p.Gln1284Glu) c.3796C>G (p.Gln1266Glu) c.3196C>G (p.Gln1066Glu) c.4144C>G (p.Gln1382Glu) c.4141C>G (p.Gln1381Glu) c.4060C>G (p.Gln1354Glu) c.3991C>G (p.Gln1331Glu) c.3859C>G (p.Gln1287Glu) c.3727C>G (p.Gln1243Glu) | |
20 | g.32436592C>T | CA408563987 | ASXL1 | c.3880C>T (p.Gln1294Ter) c.3697C>T (p.Gln1233Ter) n.6233C>T c.1870-1838C>T (n.1870-1838C>T) c.3865C>T (p.Gln1289Ter) c.3877C>T (p.Gln1293Ter) c.3850C>T (p.Gln1284Ter) c.3796C>T (p.Gln1266Ter) c.3196C>T (p.Gln1066Ter) c.4144C>T (p.Gln1382Ter) c.4141C>T (p.Gln1381Ter) c.4060C>T (p.Gln1354Ter) c.3991C>T (p.Gln1331Ter) c.3859C>T (p.Gln1287Ter) c.3727C>T (p.Gln1243Ter) | gnomAD v4 |
20 | g.32436593A>C | CA408563988 | ASXL1 | c.3881A>C (p.Gln1294Pro) c.3698A>C (p.Gln1233Pro) n.6234A>C c.1870-1837A>C (n.1870-1837A>C) c.3866A>C (p.Gln1289Pro) c.3878A>C (p.Gln1293Pro) c.3851A>C (p.Gln1284Pro) c.3797A>C (p.Gln1266Pro) c.3197A>C (p.Gln1066Pro) c.4145A>C (p.Gln1382Pro) c.4142A>C (p.Gln1381Pro) c.4061A>C (p.Gln1354Pro) c.3992A>C (p.Gln1331Pro) c.3860A>C (p.Gln1287Pro) c.3728A>C (p.Gln1243Pro) | |
20 | g.32436593A>G | CA408563989 | ASXL1 | c.3881A>G (p.Gln1294Arg) c.3698A>G (p.Gln1233Arg) n.6234A>G c.1870-1837A>G (n.1870-1837A>G) c.3866A>G (p.Gln1289Arg) c.3878A>G (p.Gln1293Arg) c.3851A>G (p.Gln1284Arg) c.3797A>G (p.Gln1266Arg) c.3197A>G (p.Gln1066Arg) c.4145A>G (p.Gln1382Arg) c.4142A>G (p.Gln1381Arg) c.4061A>G (p.Gln1354Arg) c.3992A>G (p.Gln1331Arg) c.3860A>G (p.Gln1287Arg) c.3728A>G (p.Gln1243Arg) | |
20 | g.32436593A>T | CA408563990 | ASXL1 | c.3881A>T (p.Gln1294Leu) c.3698A>T (p.Gln1233Leu) n.6234A>T c.1870-1837A>T (n.1870-1837A>T) c.3866A>T (p.Gln1289Leu) c.3878A>T (p.Gln1293Leu) c.3851A>T (p.Gln1284Leu) c.3797A>T (p.Gln1266Leu) c.3197A>T (p.Gln1066Leu) c.4145A>T (p.Gln1382Leu) c.4142A>T (p.Gln1381Leu) c.4061A>T (p.Gln1354Leu) c.3992A>T (p.Gln1331Leu) c.3860A>T (p.Gln1287Leu) c.3728A>T (p.Gln1243Leu) | dbSNP |
20 | g.32436594G>A | CA510467470 | ASXL1 | c.3882G>A (p.Gln1294=) c.3699G>A (p.Gln1233=) n.6235G>A c.1870-1836G>A (n.1870-1836G>A) c.3867G>A (p.Gln1289=) c.3879G>A (p.Gln1293=) c.3852G>A (p.Gln1284=) c.3798G>A (p.Gln1266=) c.3198G>A (p.Gln1066=) c.4146G>A (p.Gln1382=) c.4143G>A (p.Gln1381=) c.4062G>A (p.Gln1354=) c.3993G>A (p.Gln1331=) c.3861G>A (p.Gln1287=) c.3729G>A (p.Gln1243=) | dbSNP |
20 | g.32436594G>C | CA408563991 | ASXL1 | c.3882G>C (p.Gln1294His) c.3699G>C (p.Gln1233His) n.6235G>C c.1870-1836G>C (n.1870-1836G>C) c.3867G>C (p.Gln1289His) c.3879G>C (p.Gln1293His) c.3852G>C (p.Gln1284His) c.3798G>C (p.Gln1266His) c.3198G>C (p.Gln1066His) c.4146G>C (p.Gln1382His) c.4143G>C (p.Gln1381His) c.4062G>C (p.Gln1354His) c.3993G>C (p.Gln1331His) c.3861G>C (p.Gln1287His) c.3729G>C (p.Gln1243His) | |
20 | g.32436594G>T | CA408563992 | ASXL1 | c.3882G>T (p.Gln1294His) c.3699G>T (p.Gln1233His) n.6235G>T c.1870-1836G>T (n.1870-1836G>T) c.3867G>T (p.Gln1289His) c.3879G>T (p.Gln1293His) c.3852G>T (p.Gln1284His) c.3798G>T (p.Gln1266His) c.3198G>T (p.Gln1066His) c.4146G>T (p.Gln1382His) c.4143G>T (p.Gln1381His) c.4062G>T (p.Gln1354His) c.3993G>T (p.Gln1331His) c.3861G>T (p.Gln1287His) c.3729G>T (p.Gln1243His) | dbSNP |
20 | g.32436595A>C | CA408563993 | ASXL1 | c.3883A>C (p.Ser1295Arg) c.3700A>C (p.Ser1234Arg) n.6236A>C c.1870-1835A>C (n.1870-1835A>C) c.3868A>C (p.Ser1290Arg) c.3880A>C (p.Ser1294Arg) c.3853A>C (p.Ser1285Arg) c.3799A>C (p.Ser1267Arg) c.3199A>C (p.Ser1067Arg) c.4147A>C (p.Ser1383Arg) c.4144A>C (p.Ser1382Arg) c.4063A>C (p.Ser1355Arg) c.3994A>C (p.Ser1332Arg) c.3862A>C (p.Ser1288Arg) c.3730A>C (p.Ser1244Arg) | |
20 | g.32436595A>G | CA408563994 | ASXL1 | c.3883A>G (p.Ser1295Gly) c.3700A>G (p.Ser1234Gly) n.6236A>G c.1870-1835A>G (n.1870-1835A>G) c.3868A>G (p.Ser1290Gly) c.3880A>G (p.Ser1294Gly) c.3853A>G (p.Ser1285Gly) c.3799A>G (p.Ser1267Gly) c.3199A>G (p.Ser1067Gly) c.4147A>G (p.Ser1383Gly) c.4144A>G (p.Ser1382Gly) c.4063A>G (p.Ser1355Gly) c.3994A>G (p.Ser1332Gly) c.3862A>G (p.Ser1288Gly) c.3730A>G (p.Ser1244Gly) | |
20 | g.32436595A>T | CA408563995 | ASXL1 | c.3883A>T (p.Ser1295Cys) c.3700A>T (p.Ser1234Cys) n.6236A>T c.1870-1835A>T (n.1870-1835A>T) c.3868A>T (p.Ser1290Cys) c.3880A>T (p.Ser1294Cys) c.3853A>T (p.Ser1285Cys) c.3799A>T (p.Ser1267Cys) c.3199A>T (p.Ser1067Cys) c.4147A>T (p.Ser1383Cys) c.4144A>T (p.Ser1382Cys) c.4063A>T (p.Ser1355Cys) c.3994A>T (p.Ser1332Cys) c.3862A>T (p.Ser1288Cys) c.3730A>T (p.Ser1244Cys) | |
20 | g.32436596G>A | CA408563996 | ASXL1 | c.3884G>A (p.Ser1295Asn) c.3701G>A (p.Ser1234Asn) n.6237G>A c.1870-1834G>A (n.1870-1834G>A) c.3869G>A (p.Ser1290Asn) c.3881G>A (p.Ser1294Asn) c.3854G>A (p.Ser1285Asn) c.3800G>A (p.Ser1267Asn) c.3200G>A (p.Ser1067Asn) c.4148G>A (p.Ser1383Asn) c.4145G>A (p.Ser1382Asn) c.4064G>A (p.Ser1355Asn) c.3995G>A (p.Ser1332Asn) c.3863G>A (p.Ser1288Asn) c.3731G>A (p.Ser1244Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436596G>C | CA408563997 | ASXL1 | c.3884G>C (p.Ser1295Thr) c.3701G>C (p.Ser1234Thr) n.6237G>C c.1870-1834G>C (n.1870-1834G>C) c.3869G>C (p.Ser1290Thr) c.3881G>C (p.Ser1294Thr) c.3854G>C (p.Ser1285Thr) c.3800G>C (p.Ser1267Thr) c.3200G>C (p.Ser1067Thr) c.4148G>C (p.Ser1383Thr) c.4145G>C (p.Ser1382Thr) c.4064G>C (p.Ser1355Thr) c.3995G>C (p.Ser1332Thr) c.3863G>C (p.Ser1288Thr) c.3731G>C (p.Ser1244Thr) | |
20 | g.32436596G= | CA2360293781 | ASXL1 | c.3884G= (p.Ser1295=) c.3701G= (p.Ser1234=) n.6237G= c.1870-1834G= (n.1870-1834G=) c.3869G= (p.Ser1290=) c.3881G= (p.Ser1294=) c.3854G= (p.Ser1285=) c.3800G= (p.Ser1267=) c.3200G= (p.Ser1067=) c.4148G= (p.Ser1383=) c.4145G= (p.Ser1382=) c.4064G= (p.Ser1355=) c.3995G= (p.Ser1332=) c.3863G= (p.Ser1288=) c.3731G= (p.Ser1244=) | |
20 | g.32436596G>T | CA408563998 | ASXL1 | c.3884G>T (p.Ser1295Ile) c.3701G>T (p.Ser1234Ile) n.6237G>T c.1870-1834G>T (n.1870-1834G>T) c.3869G>T (p.Ser1290Ile) c.3881G>T (p.Ser1294Ile) c.3854G>T (p.Ser1285Ile) c.3800G>T (p.Ser1267Ile) c.3200G>T (p.Ser1067Ile) c.4148G>T (p.Ser1383Ile) c.4145G>T (p.Ser1382Ile) c.4064G>T (p.Ser1355Ile) c.3995G>T (p.Ser1332Ile) c.3863G>T (p.Ser1288Ile) c.3731G>T (p.Ser1244Ile) | dbSNP |
20 | g.32436597C>A | CA408563999 | ASXL1 | c.3885C>A (p.Ser1295Arg) c.3702C>A (p.Ser1234Arg) n.6238C>A c.1870-1833C>A (n.1870-1833C>A) c.3870C>A (p.Ser1290Arg) c.3882C>A (p.Ser1294Arg) c.3855C>A (p.Ser1285Arg) c.3801C>A (p.Ser1267Arg) c.3201C>A (p.Ser1067Arg) c.4149C>A (p.Ser1383Arg) c.4146C>A (p.Ser1382Arg) c.4065C>A (p.Ser1355Arg) c.3996C>A (p.Ser1332Arg) c.3864C>A (p.Ser1288Arg) c.3732C>A (p.Ser1244Arg) | |
20 | g.32436597C>G | CA408564000 | ASXL1 | c.3885C>G (p.Ser1295Arg) c.3702C>G (p.Ser1234Arg) n.6238C>G c.1870-1833C>G (n.1870-1833C>G) c.3870C>G (p.Ser1290Arg) c.3882C>G (p.Ser1294Arg) c.3855C>G (p.Ser1285Arg) c.3801C>G (p.Ser1267Arg) c.3201C>G (p.Ser1067Arg) c.4149C>G (p.Ser1383Arg) c.4146C>G (p.Ser1382Arg) c.4065C>G (p.Ser1355Arg) c.3996C>G (p.Ser1332Arg) c.3864C>G (p.Ser1288Arg) c.3732C>G (p.Ser1244Arg) | dbSNP |
20 | g.32436597C>T | CA510467471 | ASXL1 | c.3885C>T (p.Ser1295=) c.3702C>T (p.Ser1234=) n.6238C>T c.1870-1833C>T (n.1870-1833C>T) c.3870C>T (p.Ser1290=) c.3882C>T (p.Ser1294=) c.3855C>T (p.Ser1285=) c.3801C>T (p.Ser1267=) c.3201C>T (p.Ser1067=) c.4149C>T (p.Ser1383=) c.4146C>T (p.Ser1382=) c.4065C>T (p.Ser1355=) c.3996C>T (p.Ser1332=) c.3864C>T (p.Ser1288=) c.3732C>T (p.Ser1244=) | |
20 | g.32436598A>C | CA408564001 | ASXL1 | c.3886A>C (p.Asn1296His) c.3703A>C (p.Asn1235His) n.6239A>C c.1870-1832A>C (n.1870-1832A>C) c.3871A>C (p.Asn1291His) c.3883A>C (p.Asn1295His) c.3856A>C (p.Asn1286His) c.3802A>C (p.Asn1268His) c.3202A>C (p.Asn1068His) c.4150A>C (p.Asn1384His) c.4147A>C (p.Asn1383His) c.4066A>C (p.Asn1356His) c.3997A>C (p.Asn1333His) c.3865A>C (p.Asn1289His) c.3733A>C (p.Asn1245His) | |
20 | g.32436598A>G | CA408564002 | ASXL1 | c.3886A>G (p.Asn1296Asp) c.3703A>G (p.Asn1235Asp) n.6239A>G c.1870-1832A>G (n.1870-1832A>G) c.3871A>G (p.Asn1291Asp) c.3883A>G (p.Asn1295Asp) c.3856A>G (p.Asn1286Asp) c.3802A>G (p.Asn1268Asp) c.3202A>G (p.Asn1068Asp) c.4150A>G (p.Asn1384Asp) c.4147A>G (p.Asn1383Asp) c.4066A>G (p.Asn1356Asp) c.3997A>G (p.Asn1333Asp) c.3865A>G (p.Asn1289Asp) c.3733A>G (p.Asn1245Asp) | |
20 | g.32436598A>T | CA408564003 | ASXL1 | c.3886A>T (p.Asn1296Tyr) c.3703A>T (p.Asn1235Tyr) n.6239A>T c.1870-1832A>T (n.1870-1832A>T) c.3871A>T (p.Asn1291Tyr) c.3883A>T (p.Asn1295Tyr) c.3856A>T (p.Asn1286Tyr) c.3802A>T (p.Asn1268Tyr) c.3202A>T (p.Asn1068Tyr) c.4150A>T (p.Asn1384Tyr) c.4147A>T (p.Asn1383Tyr) c.4066A>T (p.Asn1356Tyr) c.3997A>T (p.Asn1333Tyr) c.3865A>T (p.Asn1289Tyr) c.3733A>T (p.Asn1245Tyr) | |
20 | g.32436599A>C | CA408564004 | ASXL1 | c.3887A>C (p.Asn1296Thr) c.3704A>C (p.Asn1235Thr) n.6240A>C c.1870-1831A>C (n.1870-1831A>C) c.3872A>C (p.Asn1291Thr) c.3884A>C (p.Asn1295Thr) c.3857A>C (p.Asn1286Thr) c.3803A>C (p.Asn1268Thr) c.3203A>C (p.Asn1068Thr) c.4151A>C (p.Asn1384Thr) c.4148A>C (p.Asn1383Thr) c.4067A>C (p.Asn1356Thr) c.3998A>C (p.Asn1333Thr) c.3866A>C (p.Asn1289Thr) c.3734A>C (p.Asn1245Thr) | |
20 | g.32436599A>G | CA408564005 | ASXL1 | c.3887A>G (p.Asn1296Ser) c.3704A>G (p.Asn1235Ser) n.6240A>G c.1870-1831A>G (n.1870-1831A>G) c.3872A>G (p.Asn1291Ser) c.3884A>G (p.Asn1295Ser) c.3857A>G (p.Asn1286Ser) c.3803A>G (p.Asn1268Ser) c.3203A>G (p.Asn1068Ser) c.4151A>G (p.Asn1384Ser) c.4148A>G (p.Asn1383Ser) c.4067A>G (p.Asn1356Ser) c.3998A>G (p.Asn1333Ser) c.3866A>G (p.Asn1289Ser) c.3734A>G (p.Asn1245Ser) | |
20 | g.32436599A>T | CA408564006 | ASXL1 | c.3887A>T (p.Asn1296Ile) c.3704A>T (p.Asn1235Ile) n.6240A>T c.1870-1831A>T (n.1870-1831A>T) c.3872A>T (p.Asn1291Ile) c.3884A>T (p.Asn1295Ile) c.3857A>T (p.Asn1286Ile) c.3803A>T (p.Asn1268Ile) c.3203A>T (p.Asn1068Ile) c.4151A>T (p.Asn1384Ile) c.4148A>T (p.Asn1383Ile) c.4067A>T (p.Asn1356Ile) c.3998A>T (p.Asn1333Ile) c.3866A>T (p.Asn1289Ile) c.3734A>T (p.Asn1245Ile) | |
20 | g.32436600T>A | CA9808920 | ASXL1 | c.3888T>A (p.Asn1296Lys) c.3705T>A (p.Asn1235Lys) n.6241T>A c.1870-1830T>A (n.1870-1830T>A) c.3873T>A (p.Asn1291Lys) c.3885T>A (p.Asn1295Lys) c.3858T>A (p.Asn1286Lys) c.3804T>A (p.Asn1268Lys) c.3204T>A (p.Asn1068Lys) c.4152T>A (p.Asn1384Lys) c.4149T>A (p.Asn1383Lys) c.4068T>A (p.Asn1356Lys) c.3999T>A (p.Asn1333Lys) c.3867T>A (p.Asn1289Lys) c.3735T>A (p.Asn1245Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436600T>C | CA510467472 | ASXL1 | c.3888T>C (p.Asn1296=) c.3705T>C (p.Asn1235=) n.6241T>C c.1870-1830T>C (n.1870-1830T>C) c.3873T>C (p.Asn1291=) c.3885T>C (p.Asn1295=) c.3858T>C (p.Asn1286=) c.3804T>C (p.Asn1268=) c.3204T>C (p.Asn1068=) c.4152T>C (p.Asn1384=) c.4149T>C (p.Asn1383=) c.4068T>C (p.Asn1356=) c.3999T>C (p.Asn1333=) c.3867T>C (p.Asn1289=) c.3735T>C (p.Asn1245=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436600T>G | CA408564007 | ASXL1 | c.3888T>G (p.Asn1296Lys) c.3705T>G (p.Asn1235Lys) n.6241T>G c.1870-1830T>G (n.1870-1830T>G) c.3873T>G (p.Asn1291Lys) c.3885T>G (p.Asn1295Lys) c.3858T>G (p.Asn1286Lys) c.3804T>G (p.Asn1268Lys) c.3204T>G (p.Asn1068Lys) c.4152T>G (p.Asn1384Lys) c.4149T>G (p.Asn1383Lys) c.4068T>G (p.Asn1356Lys) c.3999T>G (p.Asn1333Lys) c.3867T>G (p.Asn1289Lys) c.3735T>G (p.Asn1245Lys) | |
20 | g.32436600T= | CA2360293782 | ASXL1 | c.3888T= (p.Asn1296=) c.3705T= (p.Asn1235=) n.6241T= c.1870-1830T= (n.1870-1830T=) c.3873T= (p.Asn1291=) c.3885T= (p.Asn1295=) c.3858T= (p.Asn1286=) c.3804T= (p.Asn1268=) c.3204T= (p.Asn1068=) c.4152T= (p.Asn1384=) c.4149T= (p.Asn1383=) c.4068T= (p.Asn1356=) c.3999T= (p.Asn1333=) c.3867T= (p.Asn1289=) c.3735T= (p.Asn1245=) | |
20 | g.32436601G>A | CA157044 | ASXL1 | c.3889G>A (p.Val1297Ile) c.3706G>A (p.Val1236Ile) n.6242G>A c.1870-1829G>A (n.1870-1829G>A) c.3874G>A (p.Val1292Ile) c.3886G>A (p.Val1296Ile) c.3859G>A (p.Val1287Ile) c.3805G>A (p.Val1269Ile) c.3205G>A (p.Val1069Ile) c.4153G>A (p.Val1385Ile) c.4150G>A (p.Val1384Ile) c.4069G>A (p.Val1357Ile) c.4000G>A (p.Val1334Ile) c.3868G>A (p.Val1290Ile) c.3736G>A (p.Val1246Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436601G>C | CA408564008 | ASXL1 | c.3889G>C (p.Val1297Leu) c.3706G>C (p.Val1236Leu) n.6242G>C c.1870-1829G>C (n.1870-1829G>C) c.3874G>C (p.Val1292Leu) c.3886G>C (p.Val1296Leu) c.3859G>C (p.Val1287Leu) c.3805G>C (p.Val1269Leu) c.3205G>C (p.Val1069Leu) c.4153G>C (p.Val1385Leu) c.4150G>C (p.Val1384Leu) c.4069G>C (p.Val1357Leu) c.4000G>C (p.Val1334Leu) c.3868G>C (p.Val1290Leu) c.3736G>C (p.Val1246Leu) | dbSNP |
20 | g.32436601G= | CA2360293783 | ASXL1 | c.3889G= (p.Val1297=) c.3706G= (p.Val1236=) n.6242G= c.1870-1829G= (n.1870-1829G=) c.3874G= (p.Val1292=) c.3886G= (p.Val1296=) c.3859G= (p.Val1287=) c.3805G= (p.Val1269=) c.3205G= (p.Val1069=) c.4153G= (p.Val1385=) c.4150G= (p.Val1384=) c.4069G= (p.Val1357=) c.4000G= (p.Val1334=) c.3868G= (p.Val1290=) c.3736G= (p.Val1246=) | |
20 | g.32436601G>T | CA408564009 | ASXL1 | c.3889G>T (p.Val1297Phe) c.3706G>T (p.Val1236Phe) n.6242G>T c.1870-1829G>T (n.1870-1829G>T) c.3874G>T (p.Val1292Phe) c.3886G>T (p.Val1296Phe) c.3859G>T (p.Val1287Phe) c.3805G>T (p.Val1269Phe) c.3205G>T (p.Val1069Phe) c.4153G>T (p.Val1385Phe) c.4150G>T (p.Val1384Phe) c.4069G>T (p.Val1357Phe) c.4000G>T (p.Val1334Phe) c.3868G>T (p.Val1290Phe) c.3736G>T (p.Val1246Phe) | |
20 | g.32436602T>A | CA408564010 | ASXL1 | c.3890T>A (p.Val1297Asp) c.3707T>A (p.Val1236Asp) n.6243T>A c.1870-1828T>A (n.1870-1828T>A) c.3875T>A (p.Val1292Asp) c.3887T>A (p.Val1296Asp) c.3860T>A (p.Val1287Asp) c.3806T>A (p.Val1269Asp) c.3206T>A (p.Val1069Asp) c.4154T>A (p.Val1385Asp) c.4151T>A (p.Val1384Asp) c.4070T>A (p.Val1357Asp) c.4001T>A (p.Val1334Asp) c.3869T>A (p.Val1290Asp) c.3737T>A (p.Val1246Asp) | |
20 | g.32436602T>C | CA408564011 | ASXL1 | c.3890T>C (p.Val1297Ala) c.3707T>C (p.Val1236Ala) n.6243T>C c.1870-1828T>C (n.1870-1828T>C) c.3875T>C (p.Val1292Ala) c.3887T>C (p.Val1296Ala) c.3860T>C (p.Val1287Ala) c.3806T>C (p.Val1269Ala) c.3206T>C (p.Val1069Ala) c.4154T>C (p.Val1385Ala) c.4151T>C (p.Val1384Ala) c.4070T>C (p.Val1357Ala) c.4001T>C (p.Val1334Ala) c.3869T>C (p.Val1290Ala) c.3737T>C (p.Val1246Ala) | |
20 | g.32436602T>G | CA408564012 | ASXL1 | c.3890T>G (p.Val1297Gly) c.3707T>G (p.Val1236Gly) n.6243T>G c.1870-1828T>G (n.1870-1828T>G) c.3875T>G (p.Val1292Gly) c.3887T>G (p.Val1296Gly) c.3860T>G (p.Val1287Gly) c.3806T>G (p.Val1269Gly) c.3206T>G (p.Val1069Gly) c.4154T>G (p.Val1385Gly) c.4151T>G (p.Val1384Gly) c.4070T>G (p.Val1357Gly) c.4001T>G (p.Val1334Gly) c.3869T>G (p.Val1290Gly) c.3737T>G (p.Val1246Gly) | |
20 | g.32436603T>A | CA510467473 | ASXL1 | c.3891T>A (p.Val1297=) c.3708T>A (p.Val1236=) n.6244T>A c.1870-1827T>A (n.1870-1827T>A) c.3876T>A (p.Val1292=) c.3888T>A (p.Val1296=) c.3861T>A (p.Val1287=) c.3807T>A (p.Val1269=) c.3207T>A (p.Val1069=) c.4155T>A (p.Val1385=) c.4152T>A (p.Val1384=) c.4071T>A (p.Val1357=) c.4002T>A (p.Val1334=) c.3870T>A (p.Val1290=) c.3738T>A (p.Val1246=) | |
20 | g.32436603T>C | CA510467474 | ASXL1 | c.3891T>C (p.Val1297=) c.3708T>C (p.Val1236=) n.6244T>C c.1870-1827T>C (n.1870-1827T>C) c.3876T>C (p.Val1292=) c.3888T>C (p.Val1296=) c.3861T>C (p.Val1287=) c.3807T>C (p.Val1269=) c.3207T>C (p.Val1069=) c.4155T>C (p.Val1385=) c.4152T>C (p.Val1384=) c.4071T>C (p.Val1357=) c.4002T>C (p.Val1334=) c.3870T>C (p.Val1290=) c.3738T>C (p.Val1246=) | |
20 | g.32436603T>G | CA510467475 | ASXL1 | c.3891T>G (p.Val1297=) c.3708T>G (p.Val1236=) n.6244T>G c.1870-1827T>G (n.1870-1827T>G) c.3876T>G (p.Val1292=) c.3888T>G (p.Val1296=) c.3861T>G (p.Val1287=) c.3807T>G (p.Val1269=) c.3207T>G (p.Val1069=) c.4155T>G (p.Val1385=) c.4152T>G (p.Val1384=) c.4071T>G (p.Val1357=) c.4002T>G (p.Val1334=) c.3870T>G (p.Val1290=) c.3738T>G (p.Val1246=) | |
20 | g.32436604A= | CA2360293784 | ASXL1 | c.3892A= (p.Thr1298=) c.3709A= (p.Thr1237=) n.6245A= c.1870-1826A= (n.1870-1826A=) c.3877A= (p.Thr1293=) c.3889A= (p.Thr1297=) c.3862A= (p.Thr1288=) c.3808A= (p.Thr1270=) c.3208A= (p.Thr1070=) c.4156A= (p.Thr1386=) c.4153A= (p.Thr1385=) c.4072A= (p.Thr1358=) c.4003A= (p.Thr1335=) c.3871A= (p.Thr1291=) c.3739A= (p.Thr1247=) | |
20 | g.32436604A>C | CA408564013 | ASXL1 | c.3892A>C (p.Thr1298Pro) c.3709A>C (p.Thr1237Pro) n.6245A>C c.1870-1826A>C (n.1870-1826A>C) c.3877A>C (p.Thr1293Pro) c.3889A>C (p.Thr1297Pro) c.3862A>C (p.Thr1288Pro) c.3808A>C (p.Thr1270Pro) c.3208A>C (p.Thr1070Pro) c.4156A>C (p.Thr1386Pro) c.4153A>C (p.Thr1385Pro) c.4072A>C (p.Thr1358Pro) c.4003A>C (p.Thr1335Pro) c.3871A>C (p.Thr1291Pro) c.3739A>C (p.Thr1247Pro) | |
20 | g.32436604A>G | CA408564014 | ASXL1 | c.3892A>G (p.Thr1298Ala) c.3709A>G (p.Thr1237Ala) n.6245A>G c.1870-1826A>G (n.1870-1826A>G) c.3877A>G (p.Thr1293Ala) c.3889A>G (p.Thr1297Ala) c.3862A>G (p.Thr1288Ala) c.3808A>G (p.Thr1270Ala) c.3208A>G (p.Thr1070Ala) c.4156A>G (p.Thr1386Ala) c.4153A>G (p.Thr1385Ala) c.4072A>G (p.Thr1358Ala) c.4003A>G (p.Thr1335Ala) c.3871A>G (p.Thr1291Ala) c.3739A>G (p.Thr1247Ala) | gnomAD v4 |
20 | g.32436604A>T | CA408564015 | ASXL1 | c.3892A>T (p.Thr1298Ser) c.3709A>T (p.Thr1237Ser) n.6245A>T c.1870-1826A>T (n.1870-1826A>T) c.3877A>T (p.Thr1293Ser) c.3889A>T (p.Thr1297Ser) c.3862A>T (p.Thr1288Ser) c.3808A>T (p.Thr1270Ser) c.3208A>T (p.Thr1070Ser) c.4156A>T (p.Thr1386Ser) c.4153A>T (p.Thr1385Ser) c.4072A>T (p.Thr1358Ser) c.4003A>T (p.Thr1335Ser) c.3871A>T (p.Thr1291Ser) c.3739A>T (p.Thr1247Ser) | |
20 | g.32436605C>A | CA408564016 | ASXL1 | c.3893C>A (p.Thr1298Lys) c.3710C>A (p.Thr1237Lys) n.6246C>A c.1870-1825C>A (n.1870-1825C>A) c.3878C>A (p.Thr1293Lys) c.3890C>A (p.Thr1297Lys) c.3863C>A (p.Thr1288Lys) c.3809C>A (p.Thr1270Lys) c.3209C>A (p.Thr1070Lys) c.4157C>A (p.Thr1386Lys) c.4154C>A (p.Thr1385Lys) c.4073C>A (p.Thr1358Lys) c.4004C>A (p.Thr1335Lys) c.3872C>A (p.Thr1291Lys) c.3740C>A (p.Thr1247Lys) | gnomAD v4 |
20 | g.32436605C= | CA2360293785 | ASXL1 | c.3893C= (p.Thr1298=) c.3710C= (p.Thr1237=) n.6246C= c.1870-1825C= (n.1870-1825C=) c.3878C= (p.Thr1293=) c.3890C= (p.Thr1297=) c.3863C= (p.Thr1288=) c.3809C= (p.Thr1270=) c.3209C= (p.Thr1070=) c.4157C= (p.Thr1386=) c.4154C= (p.Thr1385=) c.4073C= (p.Thr1358=) c.4004C= (p.Thr1335=) c.3872C= (p.Thr1291=) c.3740C= (p.Thr1247=) | |
20 | g.32436605C>G | CA408564017 | ASXL1 | c.3893C>G (p.Thr1298Arg) c.3710C>G (p.Thr1237Arg) n.6246C>G c.1870-1825C>G (n.1870-1825C>G) c.3878C>G (p.Thr1293Arg) c.3890C>G (p.Thr1297Arg) c.3863C>G (p.Thr1288Arg) c.3809C>G (p.Thr1270Arg) c.3209C>G (p.Thr1070Arg) c.4157C>G (p.Thr1386Arg) c.4154C>G (p.Thr1385Arg) c.4073C>G (p.Thr1358Arg) c.4004C>G (p.Thr1335Arg) c.3872C>G (p.Thr1291Arg) c.3740C>G (p.Thr1247Arg) | dbSNP |
20 | g.32436605C>T | CA9808921 | ASXL1 | c.3893C>T (p.Thr1298Ile) c.3710C>T (p.Thr1237Ile) n.6246C>T c.1870-1825C>T (n.1870-1825C>T) c.3878C>T (p.Thr1293Ile) c.3890C>T (p.Thr1297Ile) c.3863C>T (p.Thr1288Ile) c.3809C>T (p.Thr1270Ile) c.3209C>T (p.Thr1070Ile) c.4157C>T (p.Thr1386Ile) c.4154C>T (p.Thr1385Ile) c.4073C>T (p.Thr1358Ile) c.4004C>T (p.Thr1335Ile) c.3872C>T (p.Thr1291Ile) c.3740C>T (p.Thr1247Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436606_32436609dup | CA16043209 | ASXL1 | c.3894_3897dup (p.Gln1300ArgfsTer30) c.3711_3714dup (p.Gln1239ArgfsTer30) n.6247_6250dup c.1870-1824_1870-1821dup (n.1870-1824_1870-1821dup) c.3879_3882dup (p.Gln1295ArgfsTer30) c.3891_3894dup (p.Gln1299ArgfsTer30) c.3864_3867dup (p.Gln1290ArgfsTer30) c.3810_3813dup (p.Gln1272ArgfsTer30) c.3210_3213dup (p.Gln1072ArgfsTer30) c.4158_4161dup (p.Gln1388ArgfsTer30) c.4155_4158dup (p.Gln1387ArgfsTer30) c.4074_4077dup (p.Gln1360ArgfsTer30) c.4005_4008dup (p.Gln1337ArgfsTer30) c.3873_3876dup (p.Gln1293ArgfsTer30) c.3741_3744dup (p.Gln1249ArgfsTer30) | ClinVar dbSNP |
20 | g.32436606A>C | CA510467476 | ASXL1 | c.3894A>C (p.Thr1298=) c.3711A>C (p.Thr1237=) n.6247A>C c.1870-1824A>C (n.1870-1824A>C) c.3879A>C (p.Thr1293=) c.3891A>C (p.Thr1297=) c.3864A>C (p.Thr1288=) c.3810A>C (p.Thr1270=) c.3210A>C (p.Thr1070=) c.4158A>C (p.Thr1386=) c.4155A>C (p.Thr1385=) c.4074A>C (p.Thr1358=) c.4005A>C (p.Thr1335=) c.3873A>C (p.Thr1291=) c.3741A>C (p.Thr1247=) | |
20 | g.32436606A>G | CA510467477 | ASXL1 | c.3894A>G (p.Thr1298=) c.3711A>G (p.Thr1237=) n.6247A>G c.1870-1824A>G (n.1870-1824A>G) c.3879A>G (p.Thr1293=) c.3891A>G (p.Thr1297=) c.3864A>G (p.Thr1288=) c.3810A>G (p.Thr1270=) c.3210A>G (p.Thr1070=) c.4158A>G (p.Thr1386=) c.4155A>G (p.Thr1385=) c.4074A>G (p.Thr1358=) c.4005A>G (p.Thr1335=) c.3873A>G (p.Thr1291=) c.3741A>G (p.Thr1247=) | |
20 | g.32436606A>T | CA510467478 | ASXL1 | c.3894A>T (p.Thr1298=) c.3711A>T (p.Thr1237=) n.6247A>T c.1870-1824A>T (n.1870-1824A>T) c.3879A>T (p.Thr1293=) c.3891A>T (p.Thr1297=) c.3864A>T (p.Thr1288=) c.3810A>T (p.Thr1270=) c.3210A>T (p.Thr1070=) c.4158A>T (p.Thr1386=) c.4155A>T (p.Thr1385=) c.4074A>T (p.Thr1358=) c.4005A>T (p.Thr1335=) c.3873A>T (p.Thr1291=) c.3741A>T (p.Thr1247=) | |
20 | g.32436606_32436613del | CA2695202316 | ASXL1 | c.3894_3901del (p.Gly1299GlufsTer27) c.3711_3718del (p.Gly1238GlufsTer27) n.6247_6254del c.1870-1824_1870-1817del (n.1870-1824_1870-1817del) c.3879_3886del (p.Gly1294GlufsTer27) c.3891_3898del (p.Gly1298GlufsTer27) c.3864_3871del (p.Gly1289GlufsTer27) c.3810_3817del (p.Gly1271GlufsTer27) c.3210_3217del (p.Gly1071GlufsTer27) c.4158_4165del (p.Gly1387GlufsTer27) c.4155_4162del (p.Gly1386GlufsTer27) c.4074_4081del (p.Gly1359GlufsTer27) c.4005_4012del (p.Gly1336GlufsTer27) c.3873_3880del (p.Gly1292GlufsTer27) c.3741_3748del (p.Gly1248GlufsTer27) | |
20 | g.32436607G>A | CA408564018 | ASXL1 | c.3895G>A (p.Gly1299Ser) c.3712G>A (p.Gly1238Ser) n.6248G>A c.1870-1823G>A (n.1870-1823G>A) c.3880G>A (p.Gly1294Ser) c.3892G>A (p.Gly1298Ser) c.3865G>A (p.Gly1289Ser) c.3811G>A (p.Gly1271Ser) c.3211G>A (p.Gly1071Ser) c.4159G>A (p.Gly1387Ser) c.4156G>A (p.Gly1386Ser) c.4075G>A (p.Gly1359Ser) c.4006G>A (p.Gly1336Ser) c.3874G>A (p.Gly1292Ser) c.3742G>A (p.Gly1248Ser) | |
20 | g.32436607G>C | CA408564020 | ASXL1 | c.3895G>C (p.Gly1299Arg) c.3712G>C (p.Gly1238Arg) n.6248G>C c.1870-1823G>C (n.1870-1823G>C) c.3880G>C (p.Gly1294Arg) c.3892G>C (p.Gly1298Arg) c.3865G>C (p.Gly1289Arg) c.3811G>C (p.Gly1271Arg) c.3211G>C (p.Gly1071Arg) c.4159G>C (p.Gly1387Arg) c.4156G>C (p.Gly1386Arg) c.4075G>C (p.Gly1359Arg) c.4006G>C (p.Gly1336Arg) c.3874G>C (p.Gly1292Arg) c.3742G>C (p.Gly1248Arg) | |
20 | g.32436607G>T | CA408564019 | ASXL1 | c.3895G>T (p.Gly1299Cys) c.3712G>T (p.Gly1238Cys) n.6248G>T c.1870-1823G>T (n.1870-1823G>T) c.3880G>T (p.Gly1294Cys) c.3892G>T (p.Gly1298Cys) c.3865G>T (p.Gly1289Cys) c.3811G>T (p.Gly1271Cys) c.3211G>T (p.Gly1071Cys) c.4159G>T (p.Gly1387Cys) c.4156G>T (p.Gly1386Cys) c.4075G>T (p.Gly1359Cys) c.4006G>T (p.Gly1336Cys) c.3874G>T (p.Gly1292Cys) c.3742G>T (p.Gly1248Cys) | |
20 | g.32436608G>A | CA408564021 | ASXL1 | c.3896G>A (p.Gly1299Asp) c.3713G>A (p.Gly1238Asp) n.6249G>A c.1870-1822G>A (n.1870-1822G>A) c.3881G>A (p.Gly1294Asp) c.3893G>A (p.Gly1298Asp) c.3866G>A (p.Gly1289Asp) c.3812G>A (p.Gly1271Asp) c.3212G>A (p.Gly1071Asp) c.4160G>A (p.Gly1387Asp) c.4157G>A (p.Gly1386Asp) c.4076G>A (p.Gly1359Asp) c.4007G>A (p.Gly1336Asp) c.3875G>A (p.Gly1292Asp) c.3743G>A (p.Gly1248Asp) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
20 | g.32436608G>C | CA408564023 | ASXL1 | c.3896G>C (p.Gly1299Ala) c.3713G>C (p.Gly1238Ala) n.6249G>C c.1870-1822G>C (n.1870-1822G>C) c.3881G>C (p.Gly1294Ala) c.3893G>C (p.Gly1298Ala) c.3866G>C (p.Gly1289Ala) c.3812G>C (p.Gly1271Ala) c.3212G>C (p.Gly1071Ala) c.4160G>C (p.Gly1387Ala) c.4157G>C (p.Gly1386Ala) c.4076G>C (p.Gly1359Ala) c.4007G>C (p.Gly1336Ala) c.3875G>C (p.Gly1292Ala) c.3743G>C (p.Gly1248Ala) | dbSNP |
20 | g.32436608G= | CA2360293786 | ASXL1 | c.3896G= (p.Gly1299=) c.3713G= (p.Gly1238=) n.6249G= c.1870-1822G= (n.1870-1822G=) c.3881G= (p.Gly1294=) c.3893G= (p.Gly1298=) c.3866G= (p.Gly1289=) c.3812G= (p.Gly1271=) c.3212G= (p.Gly1071=) c.4160G= (p.Gly1387=) c.4157G= (p.Gly1386=) c.4076G= (p.Gly1359=) c.4007G= (p.Gly1336=) c.3875G= (p.Gly1292=) c.3743G= (p.Gly1248=) | |
20 | g.32436608G>T | CA408564022 | ASXL1 | c.3896G>T (p.Gly1299Val) c.3713G>T (p.Gly1238Val) n.6249G>T c.1870-1822G>T (n.1870-1822G>T) c.3881G>T (p.Gly1294Val) c.3893G>T (p.Gly1298Val) c.3866G>T (p.Gly1289Val) c.3812G>T (p.Gly1271Val) c.3212G>T (p.Gly1071Val) c.4160G>T (p.Gly1387Val) c.4157G>T (p.Gly1386Val) c.4076G>T (p.Gly1359Val) c.4007G>T (p.Gly1336Val) c.3875G>T (p.Gly1292Val) c.3743G>T (p.Gly1248Val) | |
20 | g.32436609C>A | CA510467481 | ASXL1 | c.3897C>A (p.Gly1299=) c.3714C>A (p.Gly1238=) n.6250C>A c.1870-1821C>A (n.1870-1821C>A) c.3882C>A (p.Gly1294=) c.3894C>A (p.Gly1298=) c.3867C>A (p.Gly1289=) c.3813C>A (p.Gly1271=) c.3213C>A (p.Gly1071=) c.4161C>A (p.Gly1387=) c.4158C>A (p.Gly1386=) c.4077C>A (p.Gly1359=) c.4008C>A (p.Gly1336=) c.3876C>A (p.Gly1292=) c.3744C>A (p.Gly1248=) | |
20 | g.32436609C= | CA2360293787 | ASXL1 | c.3897C= (p.Gly1299=) c.3714C= (p.Gly1238=) n.6250C= c.1870-1821C= (n.1870-1821C=) c.3882C= (p.Gly1294=) c.3894C= (p.Gly1298=) c.3867C= (p.Gly1289=) c.3813C= (p.Gly1271=) c.3213C= (p.Gly1071=) c.4161C= (p.Gly1387=) c.4158C= (p.Gly1386=) c.4077C= (p.Gly1359=) c.4008C= (p.Gly1336=) c.3876C= (p.Gly1292=) c.3744C= (p.Gly1248=) | |
20 | g.32436609C>G | CA510467480 | ASXL1 | c.3897C>G (p.Gly1299=) c.3714C>G (p.Gly1238=) n.6250C>G c.1870-1821C>G (n.1870-1821C>G) c.3882C>G (p.Gly1294=) c.3894C>G (p.Gly1298=) c.3867C>G (p.Gly1289=) c.3813C>G (p.Gly1271=) c.3213C>G (p.Gly1071=) c.4161C>G (p.Gly1387=) c.4158C>G (p.Gly1386=) c.4077C>G (p.Gly1359=) c.4008C>G (p.Gly1336=) c.3876C>G (p.Gly1292=) c.3744C>G (p.Gly1248=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436609C>T | CA510467479 | ASXL1 | c.3897C>T (p.Gly1299=) c.3714C>T (p.Gly1238=) n.6250C>T c.1870-1821C>T (n.1870-1821C>T) c.3882C>T (p.Gly1294=) c.3894C>T (p.Gly1298=) c.3867C>T (p.Gly1289=) c.3813C>T (p.Gly1271=) c.3213C>T (p.Gly1071=) c.4161C>T (p.Gly1387=) c.4158C>T (p.Gly1386=) c.4077C>T (p.Gly1359=) c.4008C>T (p.Gly1336=) c.3876C>T (p.Gly1292=) c.3744C>T (p.Gly1248=) | |
20 | g.32436610C>A | CA408564024 | ASXL1 | c.3898C>A (p.Gln1300Lys) c.3715C>A (p.Gln1239Lys) n.6251C>A c.1870-1820C>A (n.1870-1820C>A) c.3883C>A (p.Gln1295Lys) c.3895C>A (p.Gln1299Lys) c.3868C>A (p.Gln1290Lys) c.3814C>A (p.Gln1272Lys) c.3214C>A (p.Gln1072Lys) c.4162C>A (p.Gln1388Lys) c.4159C>A (p.Gln1387Lys) c.4078C>A (p.Gln1360Lys) c.4009C>A (p.Gln1337Lys) c.3877C>A (p.Gln1293Lys) c.3745C>A (p.Gln1249Lys) | |
20 | g.32436610C>G | CA408564025 | ASXL1 | c.3898C>G (p.Gln1300Glu) c.3715C>G (p.Gln1239Glu) n.6251C>G c.1870-1820C>G (n.1870-1820C>G) c.3883C>G (p.Gln1295Glu) c.3895C>G (p.Gln1299Glu) c.3868C>G (p.Gln1290Glu) c.3814C>G (p.Gln1272Glu) c.3214C>G (p.Gln1072Glu) c.4162C>G (p.Gln1388Glu) c.4159C>G (p.Gln1387Glu) c.4078C>G (p.Gln1360Glu) c.4009C>G (p.Gln1337Glu) c.3877C>G (p.Gln1293Glu) c.3745C>G (p.Gln1249Glu) | |
20 | g.32436610C>T | CA408564026 | ASXL1 | c.3898C>T (p.Gln1300Ter) c.3715C>T (p.Gln1239Ter) n.6251C>T c.1870-1820C>T (n.1870-1820C>T) c.3883C>T (p.Gln1295Ter) c.3895C>T (p.Gln1299Ter) c.3868C>T (p.Gln1290Ter) c.3814C>T (p.Gln1272Ter) c.3214C>T (p.Gln1072Ter) c.4162C>T (p.Gln1388Ter) c.4159C>T (p.Gln1387Ter) c.4078C>T (p.Gln1360Ter) c.4009C>T (p.Gln1337Ter) c.3877C>T (p.Gln1293Ter) c.3745C>T (p.Gln1249Ter) | gnomAD v4 COSMIC COSMIC |
20 | g.32436611A>C | CA408564027 | ASXL1 | c.3899A>C (p.Gln1300Pro) c.3716A>C (p.Gln1239Pro) n.6252A>C c.1870-1819A>C (n.1870-1819A>C) c.3884A>C (p.Gln1295Pro) c.3896A>C (p.Gln1299Pro) c.3869A>C (p.Gln1290Pro) c.3815A>C (p.Gln1272Pro) c.3215A>C (p.Gln1072Pro) c.4163A>C (p.Gln1388Pro) c.4160A>C (p.Gln1387Pro) c.4079A>C (p.Gln1360Pro) c.4010A>C (p.Gln1337Pro) c.3878A>C (p.Gln1293Pro) c.3746A>C (p.Gln1249Pro) | |
20 | g.32436611A>G | CA408564028 | ASXL1 | c.3899A>G (p.Gln1300Arg) c.3716A>G (p.Gln1239Arg) n.6252A>G c.1870-1819A>G (n.1870-1819A>G) c.3884A>G (p.Gln1295Arg) c.3896A>G (p.Gln1299Arg) c.3869A>G (p.Gln1290Arg) c.3815A>G (p.Gln1272Arg) c.3215A>G (p.Gln1072Arg) c.4163A>G (p.Gln1388Arg) c.4160A>G (p.Gln1387Arg) c.4079A>G (p.Gln1360Arg) c.4010A>G (p.Gln1337Arg) c.3878A>G (p.Gln1293Arg) c.3746A>G (p.Gln1249Arg) | |
20 | g.32436611A>T | CA408564029 | ASXL1 | c.3899A>T (p.Gln1300Leu) c.3716A>T (p.Gln1239Leu) n.6252A>T c.1870-1819A>T (n.1870-1819A>T) c.3884A>T (p.Gln1295Leu) c.3896A>T (p.Gln1299Leu) c.3869A>T (p.Gln1290Leu) c.3815A>T (p.Gln1272Leu) c.3215A>T (p.Gln1072Leu) c.4163A>T (p.Gln1388Leu) c.4160A>T (p.Gln1387Leu) c.4079A>T (p.Gln1360Leu) c.4010A>T (p.Gln1337Leu) c.3878A>T (p.Gln1293Leu) c.3746A>T (p.Gln1249Leu) | |
20 | g.32436612A>C | CA408564030 | ASXL1 | c.3900A>C (p.Gln1300His) c.3717A>C (p.Gln1239His) n.6253A>C c.1870-1818A>C (n.1870-1818A>C) c.3885A>C (p.Gln1295His) c.3897A>C (p.Gln1299His) c.3870A>C (p.Gln1290His) c.3816A>C (p.Gln1272His) c.3216A>C (p.Gln1072His) c.4164A>C (p.Gln1388His) c.4161A>C (p.Gln1387His) c.4080A>C (p.Gln1360His) c.4011A>C (p.Gln1337His) c.3879A>C (p.Gln1293His) c.3747A>C (p.Gln1249His) | |
20 | g.32436612A>G | CA510467482 | ASXL1 | c.3900A>G (p.Gln1300=) c.3717A>G (p.Gln1239=) n.6253A>G c.1870-1818A>G (n.1870-1818A>G) c.3885A>G (p.Gln1295=) c.3897A>G (p.Gln1299=) c.3870A>G (p.Gln1290=) c.3816A>G (p.Gln1272=) c.3216A>G (p.Gln1072=) c.4164A>G (p.Gln1388=) c.4161A>G (p.Gln1387=) c.4080A>G (p.Gln1360=) c.4011A>G (p.Gln1337=) c.3879A>G (p.Gln1293=) c.3747A>G (p.Gln1249=) | |
20 | g.32436612A>T | CA408564031 | ASXL1 | c.3900A>T (p.Gln1300His) c.3717A>T (p.Gln1239His) n.6253A>T c.1870-1818A>T (n.1870-1818A>T) c.3885A>T (p.Gln1295His) c.3897A>T (p.Gln1299His) c.3870A>T (p.Gln1290His) c.3816A>T (p.Gln1272His) c.3216A>T (p.Gln1072His) c.4164A>T (p.Gln1388His) c.4161A>T (p.Gln1387His) c.4080A>T (p.Gln1360His) c.4011A>T (p.Gln1337His) c.3879A>T (p.Gln1293His) c.3747A>T (p.Gln1249His) | dbSNP |
20 | g.32436613G>A | CA408564032 | ASXL1 | c.3901G>A (p.Gly1301Arg) c.3718G>A (p.Gly1240Arg) n.6254G>A c.1870-1817G>A (n.1870-1817G>A) c.3886G>A (p.Gly1296Arg) c.3898G>A (p.Gly1300Arg) c.3871G>A (p.Gly1291Arg) c.3817G>A (p.Gly1273Arg) c.3217G>A (p.Gly1073Arg) c.4165G>A (p.Gly1389Arg) c.4162G>A (p.Gly1388Arg) c.4081G>A (p.Gly1361Arg) c.4012G>A (p.Gly1338Arg) c.3880G>A (p.Gly1294Arg) c.3748G>A (p.Gly1250Arg) | |
20 | g.32436613G>C | CA408564033 | ASXL1 | c.3901G>C (p.Gly1301Arg) c.3718G>C (p.Gly1240Arg) n.6254G>C c.1870-1817G>C (n.1870-1817G>C) c.3886G>C (p.Gly1296Arg) c.3898G>C (p.Gly1300Arg) c.3871G>C (p.Gly1291Arg) c.3817G>C (p.Gly1273Arg) c.3217G>C (p.Gly1073Arg) c.4165G>C (p.Gly1389Arg) c.4162G>C (p.Gly1388Arg) c.4081G>C (p.Gly1361Arg) c.4012G>C (p.Gly1338Arg) c.3880G>C (p.Gly1294Arg) c.3748G>C (p.Gly1250Arg) | |
20 | g.32436613G>T | CA408564034 | ASXL1 | c.3901G>T (p.Gly1301Trp) c.3718G>T (p.Gly1240Trp) n.6254G>T c.1870-1817G>T (n.1870-1817G>T) c.3886G>T (p.Gly1296Trp) c.3898G>T (p.Gly1300Trp) c.3871G>T (p.Gly1291Trp) c.3817G>T (p.Gly1273Trp) c.3217G>T (p.Gly1073Trp) c.4165G>T (p.Gly1389Trp) c.4162G>T (p.Gly1388Trp) c.4081G>T (p.Gly1361Trp) c.4012G>T (p.Gly1338Trp) c.3880G>T (p.Gly1294Trp) c.3748G>T (p.Gly1250Trp) | |
20 | g.32436614G>A | CA408564037 | ASXL1 | c.3902G>A (p.Gly1301Glu) c.3719G>A (p.Gly1240Glu) n.6255G>A c.1870-1816G>A (n.1870-1816G>A) c.3887G>A (p.Gly1296Glu) c.3899G>A (p.Gly1300Glu) c.3872G>A (p.Gly1291Glu) c.3818G>A (p.Gly1273Glu) c.3218G>A (p.Gly1073Glu) c.4166G>A (p.Gly1389Glu) c.4163G>A (p.Gly1388Glu) c.4082G>A (p.Gly1361Glu) c.4013G>A (p.Gly1338Glu) c.3881G>A (p.Gly1294Glu) c.3749G>A (p.Gly1250Glu) | dbSNP |
20 | g.32436614G>C | CA408564035 | ASXL1 | c.3902G>C (p.Gly1301Ala) c.3719G>C (p.Gly1240Ala) n.6255G>C c.1870-1816G>C (n.1870-1816G>C) c.3887G>C (p.Gly1296Ala) c.3899G>C (p.Gly1300Ala) c.3872G>C (p.Gly1291Ala) c.3818G>C (p.Gly1273Ala) c.3218G>C (p.Gly1073Ala) c.4166G>C (p.Gly1389Ala) c.4163G>C (p.Gly1388Ala) c.4082G>C (p.Gly1361Ala) c.4013G>C (p.Gly1338Ala) c.3881G>C (p.Gly1294Ala) c.3749G>C (p.Gly1250Ala) | |
20 | g.32436614G>T | CA408564036 | ASXL1 | c.3902G>T (p.Gly1301Val) c.3719G>T (p.Gly1240Val) n.6255G>T c.1870-1816G>T (n.1870-1816G>T) c.3887G>T (p.Gly1296Val) c.3899G>T (p.Gly1300Val) c.3872G>T (p.Gly1291Val) c.3818G>T (p.Gly1273Val) c.3218G>T (p.Gly1073Val) c.4166G>T (p.Gly1389Val) c.4163G>T (p.Gly1388Val) c.4082G>T (p.Gly1361Val) c.4013G>T (p.Gly1338Val) c.3881G>T (p.Gly1294Val) c.3749G>T (p.Gly1250Val) | |
20 | g.32436615G>A | CA313926366 | ASXL1 | c.3903G>A (p.Gly1301=) c.3720G>A (p.Gly1240=) n.6256G>A c.1870-1815G>A (n.1870-1815G>A) c.3888G>A (p.Gly1296=) c.3900G>A (p.Gly1300=) c.3873G>A (p.Gly1291=) c.3819G>A (p.Gly1273=) c.3219G>A (p.Gly1073=) c.4167G>A (p.Gly1389=) c.4164G>A (p.Gly1388=) c.4083G>A (p.Gly1361=) c.4014G>A (p.Gly1338=) c.3882G>A (p.Gly1294=) c.3750G>A (p.Gly1250=) | dbSNP gnomAD v4 |
20 | g.32436615G>C | CA510467483 | ASXL1 | c.3903G>C (p.Gly1301=) c.3720G>C (p.Gly1240=) n.6256G>C c.1870-1815G>C (n.1870-1815G>C) c.3888G>C (p.Gly1296=) c.3900G>C (p.Gly1300=) c.3873G>C (p.Gly1291=) c.3819G>C (p.Gly1273=) c.3219G>C (p.Gly1073=) c.4167G>C (p.Gly1389=) c.4164G>C (p.Gly1388=) c.4083G>C (p.Gly1361=) c.4014G>C (p.Gly1338=) c.3882G>C (p.Gly1294=) c.3750G>C (p.Gly1250=) | dbSNP |
20 | g.32436615G= | CA2360293788 | ASXL1 | c.3903G= (p.Gly1301=) c.3720G= (p.Gly1240=) n.6256G= c.1870-1815G= (n.1870-1815G=) c.3888G= (p.Gly1296=) c.3900G= (p.Gly1300=) c.3873G= (p.Gly1291=) c.3819G= (p.Gly1273=) c.3219G= (p.Gly1073=) c.4167G= (p.Gly1389=) c.4164G= (p.Gly1388=) c.4083G= (p.Gly1361=) c.4014G= (p.Gly1338=) c.3882G= (p.Gly1294=) c.3750G= (p.Gly1250=) | |
20 | g.32436615G>T | CA510467484 | ASXL1 | c.3903G>T (p.Gly1301=) c.3720G>T (p.Gly1240=) n.6256G>T c.1870-1815G>T (n.1870-1815G>T) c.3888G>T (p.Gly1296=) c.3900G>T (p.Gly1300=) c.3873G>T (p.Gly1291=) c.3819G>T (p.Gly1273=) c.3219G>T (p.Gly1073=) c.4167G>T (p.Gly1389=) c.4164G>T (p.Gly1388=) c.4083G>T (p.Gly1361=) c.4014G>T (p.Gly1338=) c.3882G>T (p.Gly1294=) c.3750G>T (p.Gly1250=) | |
20 | g.32436616A>C | CA408564038 | ASXL1 | c.3904A>C (p.Lys1302Gln) c.3721A>C (p.Lys1241Gln) n.6257A>C c.1870-1814A>C (n.1870-1814A>C) c.3889A>C (p.Lys1297Gln) c.3901A>C (p.Lys1301Gln) c.3874A>C (p.Lys1292Gln) c.3820A>C (p.Lys1274Gln) c.3220A>C (p.Lys1074Gln) c.4168A>C (p.Lys1390Gln) c.4165A>C (p.Lys1389Gln) c.4084A>C (p.Lys1362Gln) c.4015A>C (p.Lys1339Gln) c.3883A>C (p.Lys1295Gln) c.3751A>C (p.Lys1251Gln) | |
20 | g.32436616A>G | CA408564039 | ASXL1 | c.3904A>G (p.Lys1302Glu) c.3721A>G (p.Lys1241Glu) n.6257A>G c.1870-1814A>G (n.1870-1814A>G) c.3889A>G (p.Lys1297Glu) c.3901A>G (p.Lys1301Glu) c.3874A>G (p.Lys1292Glu) c.3820A>G (p.Lys1274Glu) c.3220A>G (p.Lys1074Glu) c.4168A>G (p.Lys1390Glu) c.4165A>G (p.Lys1389Glu) c.4084A>G (p.Lys1362Glu) c.4015A>G (p.Lys1339Glu) c.3883A>G (p.Lys1295Glu) c.3751A>G (p.Lys1251Glu) | |
20 | g.32436616A>T | CA408564040 | ASXL1 | c.3904A>T (p.Lys1302Ter) c.3721A>T (p.Lys1241Ter) n.6257A>T c.1870-1814A>T (n.1870-1814A>T) c.3889A>T (p.Lys1297Ter) c.3901A>T (p.Lys1301Ter) c.3874A>T (p.Lys1292Ter) c.3820A>T (p.Lys1274Ter) c.3220A>T (p.Lys1074Ter) c.4168A>T (p.Lys1390Ter) c.4165A>T (p.Lys1389Ter) c.4084A>T (p.Lys1362Ter) c.4015A>T (p.Lys1339Ter) c.3883A>T (p.Lys1295Ter) c.3751A>T (p.Lys1251Ter) | |
20 | g.32436617A>C | CA408564041 | ASXL1 | c.3905A>C (p.Lys1302Thr) c.3722A>C (p.Lys1241Thr) n.6258A>C c.1870-1813A>C (n.1870-1813A>C) c.3890A>C (p.Lys1297Thr) c.3902A>C (p.Lys1301Thr) c.3875A>C (p.Lys1292Thr) c.3821A>C (p.Lys1274Thr) c.3221A>C (p.Lys1074Thr) c.4169A>C (p.Lys1390Thr) c.4166A>C (p.Lys1389Thr) c.4085A>C (p.Lys1362Thr) c.4016A>C (p.Lys1339Thr) c.3884A>C (p.Lys1295Thr) c.3752A>C (p.Lys1251Thr) | |
20 | g.32436617A>G | CA408564042 | ASXL1 | c.3905A>G (p.Lys1302Arg) c.3722A>G (p.Lys1241Arg) n.6258A>G c.1870-1813A>G (n.1870-1813A>G) c.3890A>G (p.Lys1297Arg) c.3902A>G (p.Lys1301Arg) c.3875A>G (p.Lys1292Arg) c.3821A>G (p.Lys1274Arg) c.3221A>G (p.Lys1074Arg) c.4169A>G (p.Lys1390Arg) c.4166A>G (p.Lys1389Arg) c.4085A>G (p.Lys1362Arg) c.4016A>G (p.Lys1339Arg) c.3884A>G (p.Lys1295Arg) c.3752A>G (p.Lys1251Arg) | |
20 | g.32436617A>T | CA408564043 | ASXL1 | c.3905A>T (p.Lys1302Met) c.3722A>T (p.Lys1241Met) n.6258A>T c.1870-1813A>T (n.1870-1813A>T) c.3890A>T (p.Lys1297Met) c.3902A>T (p.Lys1301Met) c.3875A>T (p.Lys1292Met) c.3821A>T (p.Lys1274Met) c.3221A>T (p.Lys1074Met) c.4169A>T (p.Lys1390Met) c.4166A>T (p.Lys1389Met) c.4085A>T (p.Lys1362Met) c.4016A>T (p.Lys1339Met) c.3884A>T (p.Lys1295Met) c.3752A>T (p.Lys1251Met) | |
20 | g.32436618G>A | CA510467485 | ASXL1 | c.3906G>A (p.Lys1302=) c.3723G>A (p.Lys1241=) n.6259G>A c.1870-1812G>A (n.1870-1812G>A) c.3891G>A (p.Lys1297=) c.3903G>A (p.Lys1301=) c.3876G>A (p.Lys1292=) c.3822G>A (p.Lys1274=) c.3222G>A (p.Lys1074=) c.4170G>A (p.Lys1390=) c.4167G>A (p.Lys1389=) c.4086G>A (p.Lys1362=) c.4017G>A (p.Lys1339=) c.3885G>A (p.Lys1295=) c.3753G>A (p.Lys1251=) | dbSNP |
20 | g.32436618G>C | CA408564044 | ASXL1 | c.3906G>C (p.Lys1302Asn) c.3723G>C (p.Lys1241Asn) n.6259G>C c.1870-1812G>C (n.1870-1812G>C) c.3891G>C (p.Lys1297Asn) c.3903G>C (p.Lys1301Asn) c.3876G>C (p.Lys1292Asn) c.3822G>C (p.Lys1274Asn) c.3222G>C (p.Lys1074Asn) c.4170G>C (p.Lys1390Asn) c.4167G>C (p.Lys1389Asn) c.4086G>C (p.Lys1362Asn) c.4017G>C (p.Lys1339Asn) c.3885G>C (p.Lys1295Asn) c.3753G>C (p.Lys1251Asn) | dbSNP |
20 | g.32436618G= | CA2360293789 | ASXL1 | c.3906G= (p.Lys1302=) c.3723G= (p.Lys1241=) n.6259G= c.1870-1812G= (n.1870-1812G=) c.3891G= (p.Lys1297=) c.3903G= (p.Lys1301=) c.3876G= (p.Lys1292=) c.3822G= (p.Lys1274=) c.3222G= (p.Lys1074=) c.4170G= (p.Lys1390=) c.4167G= (p.Lys1389=) c.4086G= (p.Lys1362=) c.4017G= (p.Lys1339=) c.3885G= (p.Lys1295=) c.3753G= (p.Lys1251=) | |
20 | g.32436618G>T | CA408564045 | ASXL1 | c.3906G>T (p.Lys1302Asn) c.3723G>T (p.Lys1241Asn) n.6259G>T c.1870-1812G>T (n.1870-1812G>T) c.3891G>T (p.Lys1297Asn) c.3903G>T (p.Lys1301Asn) c.3876G>T (p.Lys1292Asn) c.3822G>T (p.Lys1274Asn) c.3222G>T (p.Lys1074Asn) c.4170G>T (p.Lys1390Asn) c.4167G>T (p.Lys1389Asn) c.4086G>T (p.Lys1362Asn) c.4017G>T (p.Lys1339Asn) c.3885G>T (p.Lys1295Asn) c.3753G>T (p.Lys1251Asn) | |
20 | g.32436619A>C | CA408564046 | ASXL1 | c.3907A>C (p.Lys1303Gln) c.3724A>C (p.Lys1242Gln) n.6260A>C c.1870-1811A>C (n.1870-1811A>C) c.3892A>C (p.Lys1298Gln) c.3904A>C (p.Lys1302Gln) c.3877A>C (p.Lys1293Gln) c.3823A>C (p.Lys1275Gln) c.3223A>C (p.Lys1075Gln) c.4171A>C (p.Lys1391Gln) c.4168A>C (p.Lys1390Gln) c.4087A>C (p.Lys1363Gln) c.4018A>C (p.Lys1340Gln) c.3886A>C (p.Lys1296Gln) c.3754A>C (p.Lys1252Gln) | gnomAD v4 |
20 | g.32436619A>G | CA408564047 | ASXL1 | c.3907A>G (p.Lys1303Glu) c.3724A>G (p.Lys1242Glu) n.6260A>G c.1870-1811A>G (n.1870-1811A>G) c.3892A>G (p.Lys1298Glu) c.3904A>G (p.Lys1302Glu) c.3877A>G (p.Lys1293Glu) c.3823A>G (p.Lys1275Glu) c.3223A>G (p.Lys1075Glu) c.4171A>G (p.Lys1391Glu) c.4168A>G (p.Lys1390Glu) c.4087A>G (p.Lys1363Glu) c.4018A>G (p.Lys1340Glu) c.3886A>G (p.Lys1296Glu) c.3754A>G (p.Lys1252Glu) | |
20 | g.32436619A>T | CA408564048 | ASXL1 | c.3907A>T (p.Lys1303Ter) c.3724A>T (p.Lys1242Ter) n.6260A>T c.1870-1811A>T (n.1870-1811A>T) c.3892A>T (p.Lys1298Ter) c.3904A>T (p.Lys1302Ter) c.3877A>T (p.Lys1293Ter) c.3823A>T (p.Lys1275Ter) c.3223A>T (p.Lys1075Ter) c.4171A>T (p.Lys1391Ter) c.4168A>T (p.Lys1390Ter) c.4087A>T (p.Lys1363Ter) c.4018A>T (p.Lys1340Ter) c.3886A>T (p.Lys1296Ter) c.3754A>T (p.Lys1252Ter) | |
20 | g.32436620A>C | CA408564050 | ASXL1 | c.3908A>C (p.Lys1303Thr) c.3725A>C (p.Lys1242Thr) n.6261A>C c.1870-1810A>C (n.1870-1810A>C) c.3893A>C (p.Lys1298Thr) c.3905A>C (p.Lys1302Thr) c.3878A>C (p.Lys1293Thr) c.3824A>C (p.Lys1275Thr) c.3224A>C (p.Lys1075Thr) c.4172A>C (p.Lys1391Thr) c.4169A>C (p.Lys1390Thr) c.4088A>C (p.Lys1363Thr) c.4019A>C (p.Lys1340Thr) c.3887A>C (p.Lys1296Thr) c.3755A>C (p.Lys1252Thr) | |
20 | g.32436620A>G | CA408564051 | ASXL1 | c.3908A>G (p.Lys1303Arg) c.3725A>G (p.Lys1242Arg) n.6261A>G c.1870-1810A>G (n.1870-1810A>G) c.3893A>G (p.Lys1298Arg) c.3905A>G (p.Lys1302Arg) c.3878A>G (p.Lys1293Arg) c.3824A>G (p.Lys1275Arg) c.3224A>G (p.Lys1075Arg) c.4172A>G (p.Lys1391Arg) c.4169A>G (p.Lys1390Arg) c.4088A>G (p.Lys1363Arg) c.4019A>G (p.Lys1340Arg) c.3887A>G (p.Lys1296Arg) c.3755A>G (p.Lys1252Arg) | |
20 | g.32436620A>T | CA408564049 | ASXL1 | c.3908A>T (p.Lys1303Met) c.3725A>T (p.Lys1242Met) n.6261A>T c.1870-1810A>T (n.1870-1810A>T) c.3893A>T (p.Lys1298Met) c.3905A>T (p.Lys1302Met) c.3878A>T (p.Lys1293Met) c.3824A>T (p.Lys1275Met) c.3224A>T (p.Lys1075Met) c.4172A>T (p.Lys1391Met) c.4169A>T (p.Lys1390Met) c.4088A>T (p.Lys1363Met) c.4019A>T (p.Lys1340Met) c.3887A>T (p.Lys1296Met) c.3755A>T (p.Lys1252Met) | |
20 | g.32436621G>A | CA510467486 | ASXL1 | c.3909G>A (p.Lys1303=) c.3726G>A (p.Lys1242=) n.6262G>A c.1870-1809G>A (n.1870-1809G>A) c.3894G>A (p.Lys1298=) c.3906G>A (p.Lys1302=) c.3879G>A (p.Lys1293=) c.3825G>A (p.Lys1275=) c.3225G>A (p.Lys1075=) c.4173G>A (p.Lys1391=) c.4170G>A (p.Lys1390=) c.4089G>A (p.Lys1363=) c.4020G>A (p.Lys1340=) c.3888G>A (p.Lys1296=) c.3756G>A (p.Lys1252=) | dbSNP |
20 | g.32436621G>C | CA408564052 | ASXL1 | c.3909G>C (p.Lys1303Asn) c.3726G>C (p.Lys1242Asn) n.6262G>C c.1870-1809G>C (n.1870-1809G>C) c.3894G>C (p.Lys1298Asn) c.3906G>C (p.Lys1302Asn) c.3879G>C (p.Lys1293Asn) c.3825G>C (p.Lys1275Asn) c.3225G>C (p.Lys1075Asn) c.4173G>C (p.Lys1391Asn) c.4170G>C (p.Lys1390Asn) c.4089G>C (p.Lys1363Asn) c.4020G>C (p.Lys1340Asn) c.3888G>C (p.Lys1296Asn) c.3756G>C (p.Lys1252Asn) | |
20 | g.32436621G= | CA2360293790 | ASXL1 | c.3909G= (p.Lys1303=) c.3726G= (p.Lys1242=) n.6262G= c.1870-1809G= (n.1870-1809G=) c.3894G= (p.Lys1298=) c.3906G= (p.Lys1302=) c.3879G= (p.Lys1293=) c.3825G= (p.Lys1275=) c.3225G= (p.Lys1075=) c.4173G= (p.Lys1391=) c.4170G= (p.Lys1390=) c.4089G= (p.Lys1363=) c.4020G= (p.Lys1340=) c.3888G= (p.Lys1296=) c.3756G= (p.Lys1252=) | |
20 | g.32436621G>T | CA408564053 | ASXL1 | c.3909G>T (p.Lys1303Asn) c.3726G>T (p.Lys1242Asn) n.6262G>T c.1870-1809G>T (n.1870-1809G>T) c.3894G>T (p.Lys1298Asn) c.3906G>T (p.Lys1302Asn) c.3879G>T (p.Lys1293Asn) c.3825G>T (p.Lys1275Asn) c.3225G>T (p.Lys1075Asn) c.4173G>T (p.Lys1391Asn) c.4170G>T (p.Lys1390Asn) c.4089G>T (p.Lys1363Asn) c.4020G>T (p.Lys1340Asn) c.3888G>T (p.Lys1296Asn) c.3756G>T (p.Lys1252Asn) | |
20 | g.32436622del | CA2652401272 | ASXL1 | c.3910del (p.Leu1304PhefsTer?) c.3727del (p.Leu1243PhefsTer?) n.6263del c.1870-1808del (n.1870-1808del) c.3895del (p.Leu1299PhefsTer?) c.3907del (p.Leu1303PhefsTer?) c.3880del (p.Leu1294PhefsTer?) c.3826del (p.Leu1276PhefsTer?) c.3226del (p.Leu1076PhefsTer?) c.4174del (p.Leu1392PhefsTer?) c.4171del (p.Leu1391PhefsTer?) c.4090del (p.Leu1364PhefsTer?) c.4021del (p.Leu1341PhefsTer?) c.3889del (p.Leu1297PhefsTer?) c.3757del (p.Leu1253PhefsTer?) | gnomAD v4 |
20 | g.32436622C>A | CA9808923 | ASXL1 | c.3910C>A (p.Leu1304Ile) c.3727C>A (p.Leu1243Ile) n.6263C>A c.1870-1808C>A (n.1870-1808C>A) c.3895C>A (p.Leu1299Ile) c.3907C>A (p.Leu1303Ile) c.3880C>A (p.Leu1294Ile) c.3826C>A (p.Leu1276Ile) c.3226C>A (p.Leu1076Ile) c.4174C>A (p.Leu1392Ile) c.4171C>A (p.Leu1391Ile) c.4090C>A (p.Leu1364Ile) c.4021C>A (p.Leu1341Ile) c.3889C>A (p.Leu1297Ile) c.3757C>A (p.Leu1253Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436622C= | CA2360293791 | ASXL1 | c.3910C= (p.Leu1304=) c.3727C= (p.Leu1243=) n.6263C= c.1870-1808C= (n.1870-1808C=) c.3895C= (p.Leu1299=) c.3907C= (p.Leu1303=) c.3880C= (p.Leu1294=) c.3826C= (p.Leu1276=) c.3226C= (p.Leu1076=) c.4174C= (p.Leu1392=) c.4171C= (p.Leu1391=) c.4090C= (p.Leu1364=) c.4021C= (p.Leu1341=) c.3889C= (p.Leu1297=) c.3757C= (p.Leu1253=) | |
20 | g.32436622C>G | CA9808922 | ASXL1 | c.3910C>G (p.Leu1304Val) c.3727C>G (p.Leu1243Val) n.6263C>G c.1870-1808C>G (n.1870-1808C>G) c.3895C>G (p.Leu1299Val) c.3907C>G (p.Leu1303Val) c.3880C>G (p.Leu1294Val) c.3826C>G (p.Leu1276Val) c.3226C>G (p.Leu1076Val) c.4174C>G (p.Leu1392Val) c.4171C>G (p.Leu1391Val) c.4090C>G (p.Leu1364Val) c.4021C>G (p.Leu1341Val) c.3889C>G (p.Leu1297Val) c.3757C>G (p.Leu1253Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436622C>T | CA408564054 | ASXL1 | c.3910C>T (p.Leu1304Phe) c.3727C>T (p.Leu1243Phe) n.6263C>T c.1870-1808C>T (n.1870-1808C>T) c.3895C>T (p.Leu1299Phe) c.3907C>T (p.Leu1303Phe) c.3880C>T (p.Leu1294Phe) c.3826C>T (p.Leu1276Phe) c.3226C>T (p.Leu1076Phe) c.4174C>T (p.Leu1392Phe) c.4171C>T (p.Leu1391Phe) c.4090C>T (p.Leu1364Phe) c.4021C>T (p.Leu1341Phe) c.3889C>T (p.Leu1297Phe) c.3757C>T (p.Leu1253Phe) | |
20 | g.32436623T>A | CA408564055 | ASXL1 | c.3911T>A (p.Leu1304His) c.3728T>A (p.Leu1243His) n.6264T>A c.1870-1807T>A (n.1870-1807T>A) c.3896T>A (p.Leu1299His) c.3908T>A (p.Leu1303His) c.3881T>A (p.Leu1294His) c.3827T>A (p.Leu1276His) c.3227T>A (p.Leu1076His) c.4175T>A (p.Leu1392His) c.4172T>A (p.Leu1391His) c.4091T>A (p.Leu1364His) c.4022T>A (p.Leu1341His) c.3890T>A (p.Leu1297His) c.3758T>A (p.Leu1253His) | COSMIC COSMIC |
20 | g.32436623T>C | CA408564056 | ASXL1 | c.3911T>C (p.Leu1304Pro) c.3728T>C (p.Leu1243Pro) n.6264T>C c.1870-1807T>C (n.1870-1807T>C) c.3896T>C (p.Leu1299Pro) c.3908T>C (p.Leu1303Pro) c.3881T>C (p.Leu1294Pro) c.3827T>C (p.Leu1276Pro) c.3227T>C (p.Leu1076Pro) c.4175T>C (p.Leu1392Pro) c.4172T>C (p.Leu1391Pro) c.4091T>C (p.Leu1364Pro) c.4022T>C (p.Leu1341Pro) c.3890T>C (p.Leu1297Pro) c.3758T>C (p.Leu1253Pro) | |
20 | g.32436623T>G | CA408564057 | ASXL1 | c.3911T>G (p.Leu1304Arg) c.3728T>G (p.Leu1243Arg) n.6264T>G c.1870-1807T>G (n.1870-1807T>G) c.3896T>G (p.Leu1299Arg) c.3908T>G (p.Leu1303Arg) c.3881T>G (p.Leu1294Arg) c.3827T>G (p.Leu1276Arg) c.3227T>G (p.Leu1076Arg) c.4175T>G (p.Leu1392Arg) c.4172T>G (p.Leu1391Arg) c.4091T>G (p.Leu1364Arg) c.4022T>G (p.Leu1341Arg) c.3890T>G (p.Leu1297Arg) c.3758T>G (p.Leu1253Arg) | |
20 | g.32436627del | CA2652401274 | ASXL1 | c.3915del (p.Phe1305LeufsTer?) c.3732del (p.Phe1244LeufsTer?) n.6268del c.1870-1803del (n.1870-1803del) c.3900del (p.Phe1300LeufsTer?) c.3912del (p.Phe1304LeufsTer?) c.3885del (p.Phe1295LeufsTer?) c.3831del (p.Phe1277LeufsTer?) c.3231del (p.Phe1077LeufsTer?) c.4179del (p.Phe1393LeufsTer?) c.4176del (p.Phe1392LeufsTer?) c.4095del (p.Phe1365LeufsTer?) c.4026del (p.Phe1342LeufsTer?) c.3894del (p.Phe1298LeufsTer?) c.3762del (p.Phe1254LeufsTer?) | dbSNP gnomAD v4 |
20 | g.32436626_32436627del | CA2652401273 | ASXL1 | c.3914_3915del (p.Phe1305TrpfsTer23) c.3731_3732del (p.Phe1244TrpfsTer23) n.6267_6268del c.1870-1804_1870-1803del (n.1870-1804_1870-1803del) c.3899_3900del (p.Phe1300TrpfsTer23) c.3911_3912del (p.Phe1304TrpfsTer23) c.3884_3885del (p.Phe1295TrpfsTer23) c.3830_3831del (p.Phe1277TrpfsTer23) c.3230_3231del (p.Phe1077TrpfsTer23) c.4178_4179del (p.Phe1393TrpfsTer23) c.4175_4176del (p.Phe1392TrpfsTer23) c.4094_4095del (p.Phe1365TrpfsTer23) c.4025_4026del (p.Phe1342TrpfsTer23) c.3893_3894del (p.Phe1298TrpfsTer23) c.3761_3762del (p.Phe1254TrpfsTer23) | gnomAD v4 |
20 | g.32436624T>A | CA510467487 | ASXL1 | c.3912T>A (p.Leu1304=) c.3729T>A (p.Leu1243=) n.6265T>A c.1870-1806T>A (n.1870-1806T>A) c.3897T>A (p.Leu1299=) c.3909T>A (p.Leu1303=) c.3882T>A (p.Leu1294=) c.3828T>A (p.Leu1276=) c.3228T>A (p.Leu1076=) c.4176T>A (p.Leu1392=) c.4173T>A (p.Leu1391=) c.4092T>A (p.Leu1364=) c.4023T>A (p.Leu1341=) c.3891T>A (p.Leu1297=) c.3759T>A (p.Leu1253=) | |
20 | g.32436624T>C | CA9808924 | ASXL1 | c.3912T>C (p.Leu1304=) c.3729T>C (p.Leu1243=) n.6265T>C c.1870-1806T>C (n.1870-1806T>C) c.3897T>C (p.Leu1299=) c.3909T>C (p.Leu1303=) c.3882T>C (p.Leu1294=) c.3828T>C (p.Leu1276=) c.3228T>C (p.Leu1076=) c.4176T>C (p.Leu1392=) c.4173T>C (p.Leu1391=) c.4092T>C (p.Leu1364=) c.4023T>C (p.Leu1341=) c.3891T>C (p.Leu1297=) c.3759T>C (p.Leu1253=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436624T>G | CA510467488 | ASXL1 | c.3912T>G (p.Leu1304=) c.3729T>G (p.Leu1243=) n.6265T>G c.1870-1806T>G (n.1870-1806T>G) c.3897T>G (p.Leu1299=) c.3909T>G (p.Leu1303=) c.3882T>G (p.Leu1294=) c.3828T>G (p.Leu1276=) c.3228T>G (p.Leu1076=) c.4176T>G (p.Leu1392=) c.4173T>G (p.Leu1391=) c.4092T>G (p.Leu1364=) c.4023T>G (p.Leu1341=) c.3891T>G (p.Leu1297=) c.3759T>G (p.Leu1253=) | |
20 | g.32436624T= | CA2360293792 | ASXL1 | c.3912T= (p.Leu1304=) c.3729T= (p.Leu1243=) n.6265T= c.1870-1806T= (n.1870-1806T=) c.3897T= (p.Leu1299=) c.3909T= (p.Leu1303=) c.3882T= (p.Leu1294=) c.3828T= (p.Leu1276=) c.3228T= (p.Leu1076=) c.4176T= (p.Leu1392=) c.4173T= (p.Leu1391=) c.4092T= (p.Leu1364=) c.4023T= (p.Leu1341=) c.3891T= (p.Leu1297=) c.3759T= (p.Leu1253=) | |
20 | g.32436625T>A | CA408564058 | ASXL1 | c.3913T>A (p.Phe1305Ile) c.3730T>A (p.Phe1244Ile) n.6266T>A c.1870-1805T>A (n.1870-1805T>A) c.3898T>A (p.Phe1300Ile) c.3910T>A (p.Phe1304Ile) c.3883T>A (p.Phe1295Ile) c.3829T>A (p.Phe1277Ile) c.3229T>A (p.Phe1077Ile) c.4177T>A (p.Phe1393Ile) c.4174T>A (p.Phe1392Ile) c.4093T>A (p.Phe1365Ile) c.4024T>A (p.Phe1342Ile) c.3892T>A (p.Phe1298Ile) c.3760T>A (p.Phe1254Ile) | |
20 | g.32436625T>C | CA408564059 | ASXL1 | c.3913T>C (p.Phe1305Leu) c.3730T>C (p.Phe1244Leu) n.6266T>C c.1870-1805T>C (n.1870-1805T>C) c.3898T>C (p.Phe1300Leu) c.3910T>C (p.Phe1304Leu) c.3883T>C (p.Phe1295Leu) c.3829T>C (p.Phe1277Leu) c.3229T>C (p.Phe1077Leu) c.4177T>C (p.Phe1393Leu) c.4174T>C (p.Phe1392Leu) c.4093T>C (p.Phe1365Leu) c.4024T>C (p.Phe1342Leu) c.3892T>C (p.Phe1298Leu) c.3760T>C (p.Phe1254Leu) | dbSNP gnomAD v4 |
20 | g.32436625T>G | CA408564060 | ASXL1 | c.3913T>G (p.Phe1305Val) c.3730T>G (p.Phe1244Val) n.6266T>G c.1870-1805T>G (n.1870-1805T>G) c.3898T>G (p.Phe1300Val) c.3910T>G (p.Phe1304Val) c.3883T>G (p.Phe1295Val) c.3829T>G (p.Phe1277Val) c.3229T>G (p.Phe1077Val) c.4177T>G (p.Phe1393Val) c.4174T>G (p.Phe1392Val) c.4093T>G (p.Phe1365Val) c.4024T>G (p.Phe1342Val) c.3892T>G (p.Phe1298Val) c.3760T>G (p.Phe1254Val) | |
20 | g.32436625T= | CA2360293793 | ASXL1 | c.3913T= (p.Phe1305=) c.3730T= (p.Phe1244=) n.6266T= c.1870-1805T= (n.1870-1805T=) c.3898T= (p.Phe1300=) c.3910T= (p.Phe1304=) c.3883T= (p.Phe1295=) c.3829T= (p.Phe1277=) c.3229T= (p.Phe1077=) c.4177T= (p.Phe1393=) c.4174T= (p.Phe1392=) c.4093T= (p.Phe1365=) c.4024T= (p.Phe1342=) c.3892T= (p.Phe1298=) c.3760T= (p.Phe1254=) | |
20 | g.32436626T>A | CA10652454 | ASXL1 | c.3914T>A (p.Phe1305Tyr) c.3731T>A (p.Phe1244Tyr) n.6267T>A c.1870-1804T>A (n.1870-1804T>A) c.3899T>A (p.Phe1300Tyr) c.3911T>A (p.Phe1304Tyr) c.3884T>A (p.Phe1295Tyr) c.3830T>A (p.Phe1277Tyr) c.3230T>A (p.Phe1077Tyr) c.4178T>A (p.Phe1393Tyr) c.4175T>A (p.Phe1392Tyr) c.4094T>A (p.Phe1365Tyr) c.4025T>A (p.Phe1342Tyr) c.3893T>A (p.Phe1298Tyr) c.3761T>A (p.Phe1254Tyr) | dbSNP |
20 | g.32436626T>C | CA9808925 | ASXL1 | c.3914T>C (p.Phe1305Ser) c.3731T>C (p.Phe1244Ser) n.6267T>C c.1870-1804T>C (n.1870-1804T>C) c.3899T>C (p.Phe1300Ser) c.3911T>C (p.Phe1304Ser) c.3884T>C (p.Phe1295Ser) c.3830T>C (p.Phe1277Ser) c.3230T>C (p.Phe1077Ser) c.4178T>C (p.Phe1393Ser) c.4175T>C (p.Phe1392Ser) c.4094T>C (p.Phe1365Ser) c.4025T>C (p.Phe1342Ser) c.3893T>C (p.Phe1298Ser) c.3761T>C (p.Phe1254Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436626T>G | CA408564061 | ASXL1 | c.3914T>G (p.Phe1305Cys) c.3731T>G (p.Phe1244Cys) n.6267T>G c.1870-1804T>G (n.1870-1804T>G) c.3899T>G (p.Phe1300Cys) c.3911T>G (p.Phe1304Cys) c.3884T>G (p.Phe1295Cys) c.3830T>G (p.Phe1277Cys) c.3230T>G (p.Phe1077Cys) c.4178T>G (p.Phe1393Cys) c.4175T>G (p.Phe1392Cys) c.4094T>G (p.Phe1365Cys) c.4025T>G (p.Phe1342Cys) c.3893T>G (p.Phe1298Cys) c.3761T>G (p.Phe1254Cys) | ClinVar |
20 | g.32436626T= | CA2360293794 | ASXL1 | c.3914T= (p.Phe1305=) c.3731T= (p.Phe1244=) n.6267T= c.1870-1804T= (n.1870-1804T=) c.3899T= (p.Phe1300=) c.3911T= (p.Phe1304=) c.3884T= (p.Phe1295=) c.3830T= (p.Phe1277=) c.3230T= (p.Phe1077=) c.4178T= (p.Phe1393=) c.4175T= (p.Phe1392=) c.4094T= (p.Phe1365=) c.4025T= (p.Phe1342=) c.3893T= (p.Phe1298=) c.3761T= (p.Phe1254=) | |
20 | g.32436627T>A | CA408564062 | ASXL1 | c.3915T>A (p.Phe1305Leu) c.3732T>A (p.Phe1244Leu) n.6268T>A c.1870-1803T>A (n.1870-1803T>A) c.3900T>A (p.Phe1300Leu) c.3912T>A (p.Phe1304Leu) c.3885T>A (p.Phe1295Leu) c.3831T>A (p.Phe1277Leu) c.3231T>A (p.Phe1077Leu) c.4179T>A (p.Phe1393Leu) c.4176T>A (p.Phe1392Leu) c.4095T>A (p.Phe1365Leu) c.4026T>A (p.Phe1342Leu) c.3894T>A (p.Phe1298Leu) c.3762T>A (p.Phe1254Leu) | |
20 | g.32436627T>C | CA510467489 | ASXL1 | c.3915T>C (p.Phe1305=) c.3732T>C (p.Phe1244=) n.6268T>C c.1870-1803T>C (n.1870-1803T>C) c.3900T>C (p.Phe1300=) c.3912T>C (p.Phe1304=) c.3885T>C (p.Phe1295=) c.3831T>C (p.Phe1277=) c.3231T>C (p.Phe1077=) c.4179T>C (p.Phe1393=) c.4176T>C (p.Phe1392=) c.4095T>C (p.Phe1365=) c.4026T>C (p.Phe1342=) c.3894T>C (p.Phe1298=) c.3762T>C (p.Phe1254=) | |
20 | g.32436627T>G | CA408564063 | ASXL1 | c.3915T>G (p.Phe1305Leu) c.3732T>G (p.Phe1244Leu) n.6268T>G c.1870-1803T>G (n.1870-1803T>G) c.3900T>G (p.Phe1300Leu) c.3912T>G (p.Phe1304Leu) c.3885T>G (p.Phe1295Leu) c.3831T>G (p.Phe1277Leu) c.3231T>G (p.Phe1077Leu) c.4179T>G (p.Phe1393Leu) c.4176T>G (p.Phe1392Leu) c.4095T>G (p.Phe1365Leu) c.4026T>G (p.Phe1342Leu) c.3894T>G (p.Phe1298Leu) c.3762T>G (p.Phe1254Leu) | ClinVar dbSNP |
20 | g.32436628G>A | CA408564064 | ASXL1 | c.3916G>A (p.Gly1306Ser) c.3733G>A (p.Gly1245Ser) n.6269G>A c.1870-1802G>A (n.1870-1802G>A) c.3901G>A (p.Gly1301Ser) c.3913G>A (p.Gly1305Ser) c.3886G>A (p.Gly1296Ser) c.3832G>A (p.Gly1278Ser) c.3232G>A (p.Gly1078Ser) c.4180G>A (p.Gly1394Ser) c.4177G>A (p.Gly1393Ser) c.4096G>A (p.Gly1366Ser) c.4027G>A (p.Gly1343Ser) c.3895G>A (p.Gly1299Ser) c.3763G>A (p.Gly1255Ser) | |
20 | g.32436628G>C | CA408564065 | ASXL1 | c.3916G>C (p.Gly1306Arg) c.3733G>C (p.Gly1245Arg) n.6269G>C c.1870-1802G>C (n.1870-1802G>C) c.3901G>C (p.Gly1301Arg) c.3913G>C (p.Gly1305Arg) c.3886G>C (p.Gly1296Arg) c.3832G>C (p.Gly1278Arg) c.3232G>C (p.Gly1078Arg) c.4180G>C (p.Gly1394Arg) c.4177G>C (p.Gly1393Arg) c.4096G>C (p.Gly1366Arg) c.4027G>C (p.Gly1343Arg) c.3895G>C (p.Gly1299Arg) c.3763G>C (p.Gly1255Arg) | |
20 | g.32436628G>T | CA408564066 | ASXL1 | c.3916G>T (p.Gly1306Cys) c.3733G>T (p.Gly1245Cys) n.6269G>T c.1870-1802G>T (n.1870-1802G>T) c.3901G>T (p.Gly1301Cys) c.3913G>T (p.Gly1305Cys) c.3886G>T (p.Gly1296Cys) c.3832G>T (p.Gly1278Cys) c.3232G>T (p.Gly1078Cys) c.4180G>T (p.Gly1394Cys) c.4177G>T (p.Gly1393Cys) c.4096G>T (p.Gly1366Cys) c.4027G>T (p.Gly1343Cys) c.3895G>T (p.Gly1299Cys) c.3763G>T (p.Gly1255Cys) | |
20 | g.32436629G>A | CA9808926 | ASXL1 | c.3917G>A (p.Gly1306Asp) c.3734G>A (p.Gly1245Asp) n.6270G>A c.1870-1801G>A (n.1870-1801G>A) c.3902G>A (p.Gly1301Asp) c.3914G>A (p.Gly1305Asp) c.3887G>A (p.Gly1296Asp) c.3833G>A (p.Gly1278Asp) c.3233G>A (p.Gly1078Asp) c.4181G>A (p.Gly1394Asp) c.4178G>A (p.Gly1393Asp) c.4097G>A (p.Gly1366Asp) c.4028G>A (p.Gly1343Asp) c.3896G>A (p.Gly1299Asp) c.3764G>A (p.Gly1255Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436629G>C | CA408564067 | ASXL1 | c.3917G>C (p.Gly1306Ala) c.3734G>C (p.Gly1245Ala) n.6270G>C c.1870-1801G>C (n.1870-1801G>C) c.3902G>C (p.Gly1301Ala) c.3914G>C (p.Gly1305Ala) c.3887G>C (p.Gly1296Ala) c.3833G>C (p.Gly1278Ala) c.3233G>C (p.Gly1078Ala) c.4181G>C (p.Gly1394Ala) c.4178G>C (p.Gly1393Ala) c.4097G>C (p.Gly1366Ala) c.4028G>C (p.Gly1343Ala) c.3896G>C (p.Gly1299Ala) c.3764G>C (p.Gly1255Ala) | |
20 | g.32436629G= | CA2360293795 | ASXL1 | c.3917G= (p.Gly1306=) c.3734G= (p.Gly1245=) n.6270G= c.1870-1801G= (n.1870-1801G=) c.3902G= (p.Gly1301=) c.3914G= (p.Gly1305=) c.3887G= (p.Gly1296=) c.3833G= (p.Gly1278=) c.3233G= (p.Gly1078=) c.4181G= (p.Gly1394=) c.4178G= (p.Gly1393=) c.4097G= (p.Gly1366=) c.4028G= (p.Gly1343=) c.3896G= (p.Gly1299=) c.3764G= (p.Gly1255=) | |
20 | g.32436629G>T | CA313926367 | ASXL1 | c.3917G>T (p.Gly1306Val) c.3734G>T (p.Gly1245Val) n.6270G>T c.1870-1801G>T (n.1870-1801G>T) c.3902G>T (p.Gly1301Val) c.3914G>T (p.Gly1305Val) c.3887G>T (p.Gly1296Val) c.3833G>T (p.Gly1278Val) c.3233G>T (p.Gly1078Val) c.4181G>T (p.Gly1394Val) c.4178G>T (p.Gly1393Val) c.4097G>T (p.Gly1366Val) c.4028G>T (p.Gly1343Val) c.3896G>T (p.Gly1299Val) c.3764G>T (p.Gly1255Val) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436630C>A | CA510467490 | ASXL1 | c.3918C>A (p.Gly1306=) c.3735C>A (p.Gly1245=) n.6271C>A c.1870-1800C>A (n.1870-1800C>A) c.3903C>A (p.Gly1301=) c.3915C>A (p.Gly1305=) c.3888C>A (p.Gly1296=) c.3834C>A (p.Gly1278=) c.3234C>A (p.Gly1078=) c.4182C>A (p.Gly1394=) c.4179C>A (p.Gly1393=) c.4098C>A (p.Gly1366=) c.4029C>A (p.Gly1343=) c.3897C>A (p.Gly1299=) c.3765C>A (p.Gly1255=) | |
20 | g.32436630C= | CA2360293796 | ASXL1 | c.3918C= (p.Gly1306=) c.3735C= (p.Gly1245=) n.6271C= c.1870-1800C= (n.1870-1800C=) c.3903C= (p.Gly1301=) c.3915C= (p.Gly1305=) c.3888C= (p.Gly1296=) c.3834C= (p.Gly1278=) c.3234C= (p.Gly1078=) c.4182C= (p.Gly1394=) c.4179C= (p.Gly1393=) c.4098C= (p.Gly1366=) c.4029C= (p.Gly1343=) c.3897C= (p.Gly1299=) c.3765C= (p.Gly1255=) | |
20 | g.32436630C>G | CA510467492 | ASXL1 | c.3918C>G (p.Gly1306=) c.3735C>G (p.Gly1245=) n.6271C>G c.1870-1800C>G (n.1870-1800C>G) c.3903C>G (p.Gly1301=) c.3915C>G (p.Gly1305=) c.3888C>G (p.Gly1296=) c.3834C>G (p.Gly1278=) c.3234C>G (p.Gly1078=) c.4182C>G (p.Gly1394=) c.4179C>G (p.Gly1393=) c.4098C>G (p.Gly1366=) c.4029C>G (p.Gly1343=) c.3897C>G (p.Gly1299=) c.3765C>G (p.Gly1255=) | |
20 | g.32436630C>T | CA510467491 | ASXL1 | c.3918C>T (p.Gly1306=) c.3735C>T (p.Gly1245=) n.6271C>T c.1870-1800C>T (n.1870-1800C>T) c.3903C>T (p.Gly1301=) c.3915C>T (p.Gly1305=) c.3888C>T (p.Gly1296=) c.3834C>T (p.Gly1278=) c.3234C>T (p.Gly1078=) c.4182C>T (p.Gly1394=) c.4179C>T (p.Gly1393=) c.4098C>T (p.Gly1366=) c.4029C>T (p.Gly1343=) c.3897C>T (p.Gly1299=) c.3765C>T (p.Gly1255=) | dbSNP gnomAD v4 |