Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.32436410_32436414del | CA2577366320 | ASXL1 | c.3698_3702del (p.Glu1233ValfsTer5) c.3515_3519del (p.Glu1172ValfsTer5) n.6051_6055del c.1869+1829_1869+1833del (n.1869+1829_1869+1833del) c.3683_3687del (p.Glu1228ValfsTer5) c.3695_3699del (p.Glu1232ValfsTer5) c.3668_3672del (p.Glu1223ValfsTer5) c.3614_3618del (p.Glu1205ValfsTer5) c.3014_3018del (p.Glu1005ValfsTer5) c.3962_3966del (p.Glu1321ValfsTer5) c.3959_3963del (p.Glu1320ValfsTer5) c.3878_3882del (p.Glu1293ValfsTer5) c.3809_3813del (p.Glu1270ValfsTer5) c.3677_3681del (p.Glu1226ValfsTer5) c.3545_3549del (p.Glu1182ValfsTer5) | |
20 | g.32436413A>C | CA408563614 | ASXL1 | c.3701A>C (p.Gln1234Pro) c.3518A>C (p.Gln1173Pro) n.6054A>C c.1869+1832A>C (n.1869+1832A>C) c.3686A>C (p.Gln1229Pro) c.3698A>C (p.Gln1233Pro) c.3671A>C (p.Gln1224Pro) c.3617A>C (p.Gln1206Pro) c.3017A>C (p.Gln1006Pro) c.3965A>C (p.Gln1322Pro) c.3962A>C (p.Gln1321Pro) c.3881A>C (p.Gln1294Pro) c.3812A>C (p.Gln1271Pro) c.3680A>C (p.Gln1227Pro) c.3548A>C (p.Gln1183Pro) | |
20 | g.32436413A>G | CA408563615 | ASXL1 | c.3701A>G (p.Gln1234Arg) c.3518A>G (p.Gln1173Arg) n.6054A>G c.1869+1832A>G (n.1869+1832A>G) c.3686A>G (p.Gln1229Arg) c.3698A>G (p.Gln1233Arg) c.3671A>G (p.Gln1224Arg) c.3617A>G (p.Gln1206Arg) c.3017A>G (p.Gln1006Arg) c.3965A>G (p.Gln1322Arg) c.3962A>G (p.Gln1321Arg) c.3881A>G (p.Gln1294Arg) c.3812A>G (p.Gln1271Arg) c.3680A>G (p.Gln1227Arg) c.3548A>G (p.Gln1183Arg) | gnomAD v4 |
20 | g.32436413A>T | CA408563616 | ASXL1 | c.3701A>T (p.Gln1234Leu) c.3518A>T (p.Gln1173Leu) n.6054A>T c.1869+1832A>T (n.1869+1832A>T) c.3686A>T (p.Gln1229Leu) c.3698A>T (p.Gln1233Leu) c.3671A>T (p.Gln1224Leu) c.3617A>T (p.Gln1206Leu) c.3017A>T (p.Gln1006Leu) c.3965A>T (p.Gln1322Leu) c.3962A>T (p.Gln1321Leu) c.3881A>T (p.Gln1294Leu) c.3812A>T (p.Gln1271Leu) c.3680A>T (p.Gln1227Leu) c.3548A>T (p.Gln1183Leu) | |
20 | g.32436414G>A | CA510467571 | ASXL1 | c.3702G>A (p.Gln1234=) c.3519G>A (p.Gln1173=) n.6055G>A c.1869+1833G>A (n.1869+1833G>A) c.3687G>A (p.Gln1229=) c.3699G>A (p.Gln1233=) c.3672G>A (p.Gln1224=) c.3618G>A (p.Gln1206=) c.3018G>A (p.Gln1006=) c.3966G>A (p.Gln1322=) c.3963G>A (p.Gln1321=) c.3882G>A (p.Gln1294=) c.3813G>A (p.Gln1271=) c.3681G>A (p.Gln1227=) c.3549G>A (p.Gln1183=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436414G>C | CA408563617 | ASXL1 | c.3702G>C (p.Gln1234His) c.3519G>C (p.Gln1173His) n.6055G>C c.1869+1833G>C (n.1869+1833G>C) c.3687G>C (p.Gln1229His) c.3699G>C (p.Gln1233His) c.3672G>C (p.Gln1224His) c.3618G>C (p.Gln1206His) c.3018G>C (p.Gln1006His) c.3966G>C (p.Gln1322His) c.3963G>C (p.Gln1321His) c.3882G>C (p.Gln1294His) c.3813G>C (p.Gln1271His) c.3681G>C (p.Gln1227His) c.3549G>C (p.Gln1183His) | |
20 | g.32436414G= | CA2360293689 | ASXL1 | c.3702G= (p.Gln1234=) c.3519G= (p.Gln1173=) n.6055G= c.1869+1833G= (n.1869+1833G=) c.3687G= (p.Gln1229=) c.3699G= (p.Gln1233=) c.3672G= (p.Gln1224=) c.3618G= (p.Gln1206=) c.3018G= (p.Gln1006=) c.3966G= (p.Gln1322=) c.3963G= (p.Gln1321=) c.3882G= (p.Gln1294=) c.3813G= (p.Gln1271=) c.3681G= (p.Gln1227=) c.3549G= (p.Gln1183=) | |
20 | g.32436414G>T | CA408563618 | ASXL1 | c.3702G>T (p.Gln1234His) c.3519G>T (p.Gln1173His) n.6055G>T c.1869+1833G>T (n.1869+1833G>T) c.3687G>T (p.Gln1229His) c.3699G>T (p.Gln1233His) c.3672G>T (p.Gln1224His) c.3618G>T (p.Gln1206His) c.3018G>T (p.Gln1006His) c.3966G>T (p.Gln1322His) c.3963G>T (p.Gln1321His) c.3882G>T (p.Gln1294His) c.3813G>T (p.Gln1271His) c.3681G>T (p.Gln1227His) c.3549G>T (p.Gln1183His) | |
20 | g.32436415T>A | CA408563619 | ASXL1 | c.3703T>A (p.Phe1235Ile) c.3520T>A (p.Phe1174Ile) n.6056T>A c.1869+1834T>A (n.1869+1834T>A) c.3688T>A (p.Phe1230Ile) c.3700T>A (p.Phe1234Ile) c.3673T>A (p.Phe1225Ile) c.3619T>A (p.Phe1207Ile) c.3019T>A (p.Phe1007Ile) c.3967T>A (p.Phe1323Ile) c.3964T>A (p.Phe1322Ile) c.3883T>A (p.Phe1295Ile) c.3814T>A (p.Phe1272Ile) c.3682T>A (p.Phe1228Ile) c.3550T>A (p.Phe1184Ile) | |
20 | g.32436415T>C | CA408563620 | ASXL1 | c.3703T>C (p.Phe1235Leu) c.3520T>C (p.Phe1174Leu) n.6056T>C c.1869+1834T>C (n.1869+1834T>C) c.3688T>C (p.Phe1230Leu) c.3700T>C (p.Phe1234Leu) c.3673T>C (p.Phe1225Leu) c.3619T>C (p.Phe1207Leu) c.3019T>C (p.Phe1007Leu) c.3967T>C (p.Phe1323Leu) c.3964T>C (p.Phe1322Leu) c.3883T>C (p.Phe1295Leu) c.3814T>C (p.Phe1272Leu) c.3682T>C (p.Phe1228Leu) c.3550T>C (p.Phe1184Leu) | |
20 | g.32436415T>G | CA408563621 | ASXL1 | c.3703T>G (p.Phe1235Val) c.3520T>G (p.Phe1174Val) n.6056T>G c.1869+1834T>G (n.1869+1834T>G) c.3688T>G (p.Phe1230Val) c.3700T>G (p.Phe1234Val) c.3673T>G (p.Phe1225Val) c.3619T>G (p.Phe1207Val) c.3019T>G (p.Phe1007Val) c.3967T>G (p.Phe1323Val) c.3964T>G (p.Phe1322Val) c.3883T>G (p.Phe1295Val) c.3814T>G (p.Phe1272Val) c.3682T>G (p.Phe1228Val) c.3550T>G (p.Phe1184Val) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436415T= | CA2360293690 | ASXL1 | c.3703T= (p.Phe1235=) c.3520T= (p.Phe1174=) n.6056T= c.1869+1834T= (n.1869+1834T=) c.3688T= (p.Phe1230=) c.3700T= (p.Phe1234=) c.3673T= (p.Phe1225=) c.3619T= (p.Phe1207=) c.3019T= (p.Phe1007=) c.3967T= (p.Phe1323=) c.3964T= (p.Phe1322=) c.3883T= (p.Phe1295=) c.3814T= (p.Phe1272=) c.3682T= (p.Phe1228=) c.3550T= (p.Phe1184=) | |
20 | g.32436416T>A | CA408563623 | ASXL1 | c.3704T>A (p.Phe1235Tyr) c.3521T>A (p.Phe1174Tyr) n.6057T>A c.1869+1835T>A (n.1869+1835T>A) c.3689T>A (p.Phe1230Tyr) c.3701T>A (p.Phe1234Tyr) c.3674T>A (p.Phe1225Tyr) c.3620T>A (p.Phe1207Tyr) c.3020T>A (p.Phe1007Tyr) c.3968T>A (p.Phe1323Tyr) c.3965T>A (p.Phe1322Tyr) c.3884T>A (p.Phe1295Tyr) c.3815T>A (p.Phe1272Tyr) c.3683T>A (p.Phe1228Tyr) c.3551T>A (p.Phe1184Tyr) | |
20 | g.32436416T>C | CA408563624 | ASXL1 | c.3704T>C (p.Phe1235Ser) c.3521T>C (p.Phe1174Ser) n.6057T>C c.1869+1835T>C (n.1869+1835T>C) c.3689T>C (p.Phe1230Ser) c.3701T>C (p.Phe1234Ser) c.3674T>C (p.Phe1225Ser) c.3620T>C (p.Phe1207Ser) c.3020T>C (p.Phe1007Ser) c.3968T>C (p.Phe1323Ser) c.3965T>C (p.Phe1322Ser) c.3884T>C (p.Phe1295Ser) c.3815T>C (p.Phe1272Ser) c.3683T>C (p.Phe1228Ser) c.3551T>C (p.Phe1184Ser) | |
20 | g.32436416T>G | CA408563622 | ASXL1 | c.3704T>G (p.Phe1235Cys) c.3521T>G (p.Phe1174Cys) n.6057T>G c.1869+1835T>G (n.1869+1835T>G) c.3689T>G (p.Phe1230Cys) c.3701T>G (p.Phe1234Cys) c.3674T>G (p.Phe1225Cys) c.3620T>G (p.Phe1207Cys) c.3020T>G (p.Phe1007Cys) c.3968T>G (p.Phe1323Cys) c.3965T>G (p.Phe1322Cys) c.3884T>G (p.Phe1295Cys) c.3815T>G (p.Phe1272Cys) c.3683T>G (p.Phe1228Cys) c.3551T>G (p.Phe1184Cys) | |
20 | g.32436417C>A | CA408563626 | ASXL1 | c.3705C>A (p.Phe1235Leu) c.3522C>A (p.Phe1174Leu) n.6058C>A c.1869+1836C>A (n.1869+1836C>A) c.3690C>A (p.Phe1230Leu) c.3702C>A (p.Phe1234Leu) c.3675C>A (p.Phe1225Leu) c.3621C>A (p.Phe1207Leu) c.3021C>A (p.Phe1007Leu) c.3969C>A (p.Phe1323Leu) c.3966C>A (p.Phe1322Leu) c.3885C>A (p.Phe1295Leu) c.3816C>A (p.Phe1272Leu) c.3684C>A (p.Phe1228Leu) c.3552C>A (p.Phe1184Leu) | |
20 | g.32436417C>G | CA408563625 | ASXL1 | c.3705C>G (p.Phe1235Leu) c.3522C>G (p.Phe1174Leu) n.6058C>G c.1869+1836C>G (n.1869+1836C>G) c.3690C>G (p.Phe1230Leu) c.3702C>G (p.Phe1234Leu) c.3675C>G (p.Phe1225Leu) c.3621C>G (p.Phe1207Leu) c.3021C>G (p.Phe1007Leu) c.3969C>G (p.Phe1323Leu) c.3966C>G (p.Phe1322Leu) c.3885C>G (p.Phe1295Leu) c.3816C>G (p.Phe1272Leu) c.3684C>G (p.Phe1228Leu) c.3552C>G (p.Phe1184Leu) | |
20 | g.32436417C>T | CA510467575 | ASXL1 | c.3705C>T (p.Phe1235=) c.3522C>T (p.Phe1174=) n.6058C>T c.1869+1836C>T (n.1869+1836C>T) c.3690C>T (p.Phe1230=) c.3702C>T (p.Phe1234=) c.3675C>T (p.Phe1225=) c.3621C>T (p.Phe1207=) c.3021C>T (p.Phe1007=) c.3969C>T (p.Phe1323=) c.3966C>T (p.Phe1322=) c.3885C>T (p.Phe1295=) c.3816C>T (p.Phe1272=) c.3684C>T (p.Phe1228=) c.3552C>T (p.Phe1184=) | gnomAD v4 |
20 | g.32436418T>A | CA408563628 | ASXL1 | c.3706T>A (p.Ser1236Thr) c.3523T>A (p.Ser1175Thr) n.6059T>A c.1869+1837T>A (n.1869+1837T>A) c.3691T>A (p.Ser1231Thr) c.3703T>A (p.Ser1235Thr) c.3676T>A (p.Ser1226Thr) c.3622T>A (p.Ser1208Thr) c.3022T>A (p.Ser1008Thr) c.3970T>A (p.Ser1324Thr) c.3967T>A (p.Ser1323Thr) c.3886T>A (p.Ser1296Thr) c.3817T>A (p.Ser1273Thr) c.3685T>A (p.Ser1229Thr) c.3553T>A (p.Ser1185Thr) | |
20 | g.32436418T>C | CA408563627 | ASXL1 | c.3706T>C (p.Ser1236Pro) c.3523T>C (p.Ser1175Pro) n.6059T>C c.1869+1837T>C (n.1869+1837T>C) c.3691T>C (p.Ser1231Pro) c.3703T>C (p.Ser1235Pro) c.3676T>C (p.Ser1226Pro) c.3622T>C (p.Ser1208Pro) c.3022T>C (p.Ser1008Pro) c.3970T>C (p.Ser1324Pro) c.3967T>C (p.Ser1323Pro) c.3886T>C (p.Ser1296Pro) c.3817T>C (p.Ser1273Pro) c.3685T>C (p.Ser1229Pro) c.3553T>C (p.Ser1185Pro) | |
20 | g.32436418T>G | CA9808882 | ASXL1 | c.3706T>G (p.Ser1236Ala) c.3523T>G (p.Ser1175Ala) n.6059T>G c.1869+1837T>G (n.1869+1837T>G) c.3691T>G (p.Ser1231Ala) c.3703T>G (p.Ser1235Ala) c.3676T>G (p.Ser1226Ala) c.3622T>G (p.Ser1208Ala) c.3022T>G (p.Ser1008Ala) c.3970T>G (p.Ser1324Ala) c.3967T>G (p.Ser1323Ala) c.3886T>G (p.Ser1296Ala) c.3817T>G (p.Ser1273Ala) c.3685T>G (p.Ser1229Ala) c.3553T>G (p.Ser1185Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436418T= | CA2360293691 | ASXL1 | c.3706T= (p.Ser1236=) c.3523T= (p.Ser1175=) n.6059T= c.1869+1837T= (n.1869+1837T=) c.3691T= (p.Ser1231=) c.3703T= (p.Ser1235=) c.3676T= (p.Ser1226=) c.3622T= (p.Ser1208=) c.3022T= (p.Ser1008=) c.3970T= (p.Ser1324=) c.3967T= (p.Ser1323=) c.3886T= (p.Ser1296=) c.3817T= (p.Ser1273=) c.3685T= (p.Ser1229=) c.3553T= (p.Ser1185=) | |
20 | g.32436419C>A | CA408563629 | ASXL1 | c.3707C>A (p.Ser1236Tyr) c.3524C>A (p.Ser1175Tyr) n.6060C>A c.1869+1838C>A (n.1869+1838C>A) c.3692C>A (p.Ser1231Tyr) c.3704C>A (p.Ser1235Tyr) c.3677C>A (p.Ser1226Tyr) c.3623C>A (p.Ser1208Tyr) c.3023C>A (p.Ser1008Tyr) c.3971C>A (p.Ser1324Tyr) c.3968C>A (p.Ser1323Tyr) c.3887C>A (p.Ser1296Tyr) c.3818C>A (p.Ser1273Tyr) c.3686C>A (p.Ser1229Tyr) c.3554C>A (p.Ser1185Tyr) | |
20 | g.32436419C>G | CA408563630 | ASXL1 | c.3707C>G (p.Ser1236Cys) c.3524C>G (p.Ser1175Cys) n.6060C>G c.1869+1838C>G (n.1869+1838C>G) c.3692C>G (p.Ser1231Cys) c.3704C>G (p.Ser1235Cys) c.3677C>G (p.Ser1226Cys) c.3623C>G (p.Ser1208Cys) c.3023C>G (p.Ser1008Cys) c.3971C>G (p.Ser1324Cys) c.3968C>G (p.Ser1323Cys) c.3887C>G (p.Ser1296Cys) c.3818C>G (p.Ser1273Cys) c.3686C>G (p.Ser1229Cys) c.3554C>G (p.Ser1185Cys) | dbSNP |
20 | g.32436419C>T | CA408563631 | ASXL1 | c.3707C>T (p.Ser1236Phe) c.3524C>T (p.Ser1175Phe) n.6060C>T c.1869+1838C>T (n.1869+1838C>T) c.3692C>T (p.Ser1231Phe) c.3704C>T (p.Ser1235Phe) c.3677C>T (p.Ser1226Phe) c.3623C>T (p.Ser1208Phe) c.3023C>T (p.Ser1008Phe) c.3971C>T (p.Ser1324Phe) c.3968C>T (p.Ser1323Phe) c.3887C>T (p.Ser1296Phe) c.3818C>T (p.Ser1273Phe) c.3686C>T (p.Ser1229Phe) c.3554C>T (p.Ser1185Phe) | dbSNP |
20 | g.32436420T>A | CA510467580 | ASXL1 | c.3708T>A (p.Ser1236=) c.3525T>A (p.Ser1175=) n.6061T>A c.1869+1839T>A (n.1869+1839T>A) c.3693T>A (p.Ser1231=) c.3705T>A (p.Ser1235=) c.3678T>A (p.Ser1226=) c.3624T>A (p.Ser1208=) c.3024T>A (p.Ser1008=) c.3972T>A (p.Ser1324=) c.3969T>A (p.Ser1323=) c.3888T>A (p.Ser1296=) c.3819T>A (p.Ser1273=) c.3687T>A (p.Ser1229=) c.3555T>A (p.Ser1185=) | dbSNP |
20 | g.32436420T>C | CA510467577 | ASXL1 | c.3708T>C (p.Ser1236=) c.3525T>C (p.Ser1175=) n.6061T>C c.1869+1839T>C (n.1869+1839T>C) c.3693T>C (p.Ser1231=) c.3705T>C (p.Ser1235=) c.3678T>C (p.Ser1226=) c.3624T>C (p.Ser1208=) c.3024T>C (p.Ser1008=) c.3972T>C (p.Ser1324=) c.3969T>C (p.Ser1323=) c.3888T>C (p.Ser1296=) c.3819T>C (p.Ser1273=) c.3687T>C (p.Ser1229=) c.3555T>C (p.Ser1185=) | |
20 | g.32436420T>G | CA510467578 | ASXL1 | c.3708T>G (p.Ser1236=) c.3525T>G (p.Ser1175=) n.6061T>G c.1869+1839T>G (n.1869+1839T>G) c.3693T>G (p.Ser1231=) c.3705T>G (p.Ser1235=) c.3678T>G (p.Ser1226=) c.3624T>G (p.Ser1208=) c.3024T>G (p.Ser1008=) c.3972T>G (p.Ser1324=) c.3969T>G (p.Ser1323=) c.3888T>G (p.Ser1296=) c.3819T>G (p.Ser1273=) c.3687T>G (p.Ser1229=) c.3555T>G (p.Ser1185=) | |
20 | g.32436421T>A | CA408563634 | ASXL1 | c.3709T>A (p.Ser1237Thr) c.3526T>A (p.Ser1176Thr) n.6062T>A c.1869+1840T>A (n.1869+1840T>A) c.3694T>A (p.Ser1232Thr) c.3706T>A (p.Ser1236Thr) c.3679T>A (p.Ser1227Thr) c.3625T>A (p.Ser1209Thr) c.3025T>A (p.Ser1009Thr) c.3973T>A (p.Ser1325Thr) c.3970T>A (p.Ser1324Thr) c.3889T>A (p.Ser1297Thr) c.3820T>A (p.Ser1274Thr) c.3688T>A (p.Ser1230Thr) c.3556T>A (p.Ser1186Thr) | |
20 | g.32436421T>C | CA408563633 | ASXL1 | c.3709T>C (p.Ser1237Pro) c.3526T>C (p.Ser1176Pro) n.6062T>C c.1869+1840T>C (n.1869+1840T>C) c.3694T>C (p.Ser1232Pro) c.3706T>C (p.Ser1236Pro) c.3679T>C (p.Ser1227Pro) c.3625T>C (p.Ser1209Pro) c.3025T>C (p.Ser1009Pro) c.3973T>C (p.Ser1325Pro) c.3970T>C (p.Ser1324Pro) c.3889T>C (p.Ser1297Pro) c.3820T>C (p.Ser1274Pro) c.3688T>C (p.Ser1230Pro) c.3556T>C (p.Ser1186Pro) | dbSNP |
20 | g.32436421T>G | CA408563632 | ASXL1 | c.3709T>G (p.Ser1237Ala) c.3526T>G (p.Ser1176Ala) n.6062T>G c.1869+1840T>G (n.1869+1840T>G) c.3694T>G (p.Ser1232Ala) c.3706T>G (p.Ser1236Ala) c.3679T>G (p.Ser1227Ala) c.3625T>G (p.Ser1209Ala) c.3025T>G (p.Ser1009Ala) c.3973T>G (p.Ser1325Ala) c.3970T>G (p.Ser1324Ala) c.3889T>G (p.Ser1297Ala) c.3820T>G (p.Ser1274Ala) c.3688T>G (p.Ser1230Ala) c.3556T>G (p.Ser1186Ala) | |
20 | g.32436421T= | CA2360293692 | ASXL1 | c.3709T= (p.Ser1237=) c.3526T= (p.Ser1176=) n.6062T= c.1869+1840T= (n.1869+1840T=) c.3694T= (p.Ser1232=) c.3706T= (p.Ser1236=) c.3679T= (p.Ser1227=) c.3625T= (p.Ser1209=) c.3025T= (p.Ser1009=) c.3973T= (p.Ser1325=) c.3970T= (p.Ser1324=) c.3889T= (p.Ser1297=) c.3820T= (p.Ser1274=) c.3688T= (p.Ser1230=) c.3556T= (p.Ser1186=) | |
20 | g.32436422C>A | CA408563635 | ASXL1 | c.3710C>A (p.Ser1237Tyr) c.3527C>A (p.Ser1176Tyr) n.6063C>A c.1869+1841C>A (n.1869+1841C>A) c.3695C>A (p.Ser1232Tyr) c.3707C>A (p.Ser1236Tyr) c.3680C>A (p.Ser1227Tyr) c.3626C>A (p.Ser1209Tyr) c.3026C>A (p.Ser1009Tyr) c.3974C>A (p.Ser1325Tyr) c.3971C>A (p.Ser1324Tyr) c.3890C>A (p.Ser1297Tyr) c.3821C>A (p.Ser1274Tyr) c.3689C>A (p.Ser1230Tyr) c.3557C>A (p.Ser1186Tyr) | |
20 | g.32436422C= | CA2360293693 | ASXL1 | c.3710C= (p.Ser1237=) c.3527C= (p.Ser1176=) n.6063C= c.1869+1841C= (n.1869+1841C=) c.3695C= (p.Ser1232=) c.3707C= (p.Ser1236=) c.3680C= (p.Ser1227=) c.3626C= (p.Ser1209=) c.3026C= (p.Ser1009=) c.3974C= (p.Ser1325=) c.3971C= (p.Ser1324=) c.3890C= (p.Ser1297=) c.3821C= (p.Ser1274=) c.3689C= (p.Ser1230=) c.3557C= (p.Ser1186=) | |
20 | g.32436422C>G | CA408563636 | ASXL1 | c.3710C>G (p.Ser1237Cys) c.3527C>G (p.Ser1176Cys) n.6063C>G c.1869+1841C>G (n.1869+1841C>G) c.3695C>G (p.Ser1232Cys) c.3707C>G (p.Ser1236Cys) c.3680C>G (p.Ser1227Cys) c.3626C>G (p.Ser1209Cys) c.3026C>G (p.Ser1009Cys) c.3974C>G (p.Ser1325Cys) c.3971C>G (p.Ser1324Cys) c.3890C>G (p.Ser1297Cys) c.3821C>G (p.Ser1274Cys) c.3689C>G (p.Ser1230Cys) c.3557C>G (p.Ser1186Cys) | |
20 | g.32436422C>T | CA9808883 | ASXL1 | c.3710C>T (p.Ser1237Phe) c.3527C>T (p.Ser1176Phe) n.6063C>T c.1869+1841C>T (n.1869+1841C>T) c.3695C>T (p.Ser1232Phe) c.3707C>T (p.Ser1236Phe) c.3680C>T (p.Ser1227Phe) c.3626C>T (p.Ser1209Phe) c.3026C>T (p.Ser1009Phe) c.3974C>T (p.Ser1325Phe) c.3971C>T (p.Ser1324Phe) c.3890C>T (p.Ser1297Phe) c.3821C>T (p.Ser1274Phe) c.3689C>T (p.Ser1230Phe) c.3557C>T (p.Ser1186Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436423del | CA2652401238 | ASXL1 | c.3711del (p.Phe1238LeufsTer?) c.3528del (p.Phe1177LeufsTer?) n.6064del c.1869+1842del (n.1869+1842del) c.3696del (p.Phe1233LeufsTer?) c.3708del (p.Phe1237LeufsTer?) c.3681del (p.Phe1228LeufsTer?) c.3627del (p.Phe1210LeufsTer?) c.3027del (p.Phe1010LeufsTer?) c.3975del (p.Phe1326LeufsTer?) c.3972del (p.Phe1325LeufsTer?) c.3891del (p.Phe1298LeufsTer?) c.3822del (p.Phe1275LeufsTer?) c.3690del (p.Phe1231LeufsTer?) c.3558del (p.Phe1187LeufsTer?) | gnomAD v4 |
20 | g.32436423C>A | CA510467582 | ASXL1 | c.3711C>A (p.Ser1237=) c.3528C>A (p.Ser1176=) n.6064C>A c.1869+1842C>A (n.1869+1842C>A) c.3696C>A (p.Ser1232=) c.3708C>A (p.Ser1236=) c.3681C>A (p.Ser1227=) c.3627C>A (p.Ser1209=) c.3027C>A (p.Ser1009=) c.3975C>A (p.Ser1325=) c.3972C>A (p.Ser1324=) c.3891C>A (p.Ser1297=) c.3822C>A (p.Ser1274=) c.3690C>A (p.Ser1230=) c.3558C>A (p.Ser1186=) | |
20 | g.32436423C= | CA2360293694 | ASXL1 | c.3711C= (p.Ser1237=) c.3528C= (p.Ser1176=) n.6064C= c.1869+1842C= (n.1869+1842C=) c.3696C= (p.Ser1232=) c.3708C= (p.Ser1236=) c.3681C= (p.Ser1227=) c.3627C= (p.Ser1209=) c.3027C= (p.Ser1009=) c.3975C= (p.Ser1325=) c.3972C= (p.Ser1324=) c.3891C= (p.Ser1297=) c.3822C= (p.Ser1274=) c.3690C= (p.Ser1230=) c.3558C= (p.Ser1186=) | |
20 | g.32436423C>G | CA510467583 | ASXL1 | c.3711C>G (p.Ser1237=) c.3528C>G (p.Ser1176=) n.6064C>G c.1869+1842C>G (n.1869+1842C>G) c.3696C>G (p.Ser1232=) c.3708C>G (p.Ser1236=) c.3681C>G (p.Ser1227=) c.3627C>G (p.Ser1209=) c.3027C>G (p.Ser1009=) c.3975C>G (p.Ser1325=) c.3972C>G (p.Ser1324=) c.3891C>G (p.Ser1297=) c.3822C>G (p.Ser1274=) c.3690C>G (p.Ser1230=) c.3558C>G (p.Ser1186=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436423C>T | CA510467584 | ASXL1 | c.3711C>T (p.Ser1237=) c.3528C>T (p.Ser1176=) n.6064C>T c.1869+1842C>T (n.1869+1842C>T) c.3696C>T (p.Ser1232=) c.3708C>T (p.Ser1236=) c.3681C>T (p.Ser1227=) c.3627C>T (p.Ser1209=) c.3027C>T (p.Ser1009=) c.3975C>T (p.Ser1325=) c.3972C>T (p.Ser1324=) c.3891C>T (p.Ser1297=) c.3822C>T (p.Ser1274=) c.3690C>T (p.Ser1230=) c.3558C>T (p.Ser1186=) | dbSNP |
20 | g.32436424T>A | CA408563637 | ASXL1 | c.3712T>A (p.Phe1238Ile) c.3529T>A (p.Phe1177Ile) n.6065T>A c.1869+1843T>A (n.1869+1843T>A) c.3697T>A (p.Phe1233Ile) c.3709T>A (p.Phe1237Ile) c.3682T>A (p.Phe1228Ile) c.3628T>A (p.Phe1210Ile) c.3028T>A (p.Phe1010Ile) c.3976T>A (p.Phe1326Ile) c.3973T>A (p.Phe1325Ile) c.3892T>A (p.Phe1298Ile) c.3823T>A (p.Phe1275Ile) c.3691T>A (p.Phe1231Ile) c.3559T>A (p.Phe1187Ile) | |
20 | g.32436424T>C | CA408563638 | ASXL1 | c.3712T>C (p.Phe1238Leu) c.3529T>C (p.Phe1177Leu) n.6065T>C c.1869+1843T>C (n.1869+1843T>C) c.3697T>C (p.Phe1233Leu) c.3709T>C (p.Phe1237Leu) c.3682T>C (p.Phe1228Leu) c.3628T>C (p.Phe1210Leu) c.3028T>C (p.Phe1010Leu) c.3976T>C (p.Phe1326Leu) c.3973T>C (p.Phe1325Leu) c.3892T>C (p.Phe1298Leu) c.3823T>C (p.Phe1275Leu) c.3691T>C (p.Phe1231Leu) c.3559T>C (p.Phe1187Leu) | |
20 | g.32436424T>G | CA408563639 | ASXL1 | c.3712T>G (p.Phe1238Val) c.3529T>G (p.Phe1177Val) n.6065T>G c.1869+1843T>G (n.1869+1843T>G) c.3697T>G (p.Phe1233Val) c.3709T>G (p.Phe1237Val) c.3682T>G (p.Phe1228Val) c.3628T>G (p.Phe1210Val) c.3028T>G (p.Phe1010Val) c.3976T>G (p.Phe1326Val) c.3973T>G (p.Phe1325Val) c.3892T>G (p.Phe1298Val) c.3823T>G (p.Phe1275Val) c.3691T>G (p.Phe1231Val) c.3559T>G (p.Phe1187Val) | |
20 | g.32436426del | CA2842273175 | ASXL1 | c.3714del (p.Phe1238LeufsTer?) c.3531del (p.Phe1177LeufsTer?) n.6067del c.1869+1845del (n.1869+1845del) c.3699del (p.Phe1233LeufsTer?) c.3711del (p.Phe1237LeufsTer?) c.3684del (p.Phe1228LeufsTer?) c.3630del (p.Phe1210LeufsTer?) c.3030del (p.Phe1010LeufsTer?) c.3978del (p.Phe1326LeufsTer?) c.3975del (p.Phe1325LeufsTer?) c.3894del (p.Phe1298LeufsTer?) c.3825del (p.Phe1275LeufsTer?) c.3693del (p.Phe1231LeufsTer?) c.3561del (p.Phe1187LeufsTer?) | |
20 | g.32436425T>A | CA408563640 | ASXL1 | c.3713T>A (p.Phe1238Tyr) c.3530T>A (p.Phe1177Tyr) n.6066T>A c.1869+1844T>A (n.1869+1844T>A) c.3698T>A (p.Phe1233Tyr) c.3710T>A (p.Phe1237Tyr) c.3683T>A (p.Phe1228Tyr) c.3629T>A (p.Phe1210Tyr) c.3029T>A (p.Phe1010Tyr) c.3977T>A (p.Phe1326Tyr) c.3974T>A (p.Phe1325Tyr) c.3893T>A (p.Phe1298Tyr) c.3824T>A (p.Phe1275Tyr) c.3692T>A (p.Phe1231Tyr) c.3560T>A (p.Phe1187Tyr) | |
20 | g.32436425T>C | CA408563641 | ASXL1 | c.3713T>C (p.Phe1238Ser) c.3530T>C (p.Phe1177Ser) n.6066T>C c.1869+1844T>C (n.1869+1844T>C) c.3698T>C (p.Phe1233Ser) c.3710T>C (p.Phe1237Ser) c.3683T>C (p.Phe1228Ser) c.3629T>C (p.Phe1210Ser) c.3029T>C (p.Phe1010Ser) c.3977T>C (p.Phe1326Ser) c.3974T>C (p.Phe1325Ser) c.3893T>C (p.Phe1298Ser) c.3824T>C (p.Phe1275Ser) c.3692T>C (p.Phe1231Ser) c.3560T>C (p.Phe1187Ser) | |
20 | g.32436425T>G | CA9808884 | ASXL1 | c.3713T>G (p.Phe1238Cys) c.3530T>G (p.Phe1177Cys) n.6066T>G c.1869+1844T>G (n.1869+1844T>G) c.3698T>G (p.Phe1233Cys) c.3710T>G (p.Phe1237Cys) c.3683T>G (p.Phe1228Cys) c.3629T>G (p.Phe1210Cys) c.3029T>G (p.Phe1010Cys) c.3977T>G (p.Phe1326Cys) c.3974T>G (p.Phe1325Cys) c.3893T>G (p.Phe1298Cys) c.3824T>G (p.Phe1275Cys) c.3692T>G (p.Phe1231Cys) c.3560T>G (p.Phe1187Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436425T= | CA2360293695 | ASXL1 | c.3713T= (p.Phe1238=) c.3530T= (p.Phe1177=) n.6066T= c.1869+1844T= (n.1869+1844T=) c.3698T= (p.Phe1233=) c.3710T= (p.Phe1237=) c.3683T= (p.Phe1228=) c.3629T= (p.Phe1210=) c.3029T= (p.Phe1010=) c.3977T= (p.Phe1326=) c.3974T= (p.Phe1325=) c.3893T= (p.Phe1298=) c.3824T= (p.Phe1275=) c.3692T= (p.Phe1231=) c.3560T= (p.Phe1187=) | |
20 | g.32436426T>A | CA408563642 | ASXL1 | c.3714T>A (p.Phe1238Leu) c.3531T>A (p.Phe1177Leu) n.6067T>A c.1869+1845T>A (n.1869+1845T>A) c.3699T>A (p.Phe1233Leu) c.3711T>A (p.Phe1237Leu) c.3684T>A (p.Phe1228Leu) c.3630T>A (p.Phe1210Leu) c.3030T>A (p.Phe1010Leu) c.3978T>A (p.Phe1326Leu) c.3975T>A (p.Phe1325Leu) c.3894T>A (p.Phe1298Leu) c.3825T>A (p.Phe1275Leu) c.3693T>A (p.Phe1231Leu) c.3561T>A (p.Phe1187Leu) | |
20 | g.32436426T>C | CA510467588 | ASXL1 | c.3714T>C (p.Phe1238=) c.3531T>C (p.Phe1177=) n.6067T>C c.1869+1845T>C (n.1869+1845T>C) c.3699T>C (p.Phe1233=) c.3711T>C (p.Phe1237=) c.3684T>C (p.Phe1228=) c.3630T>C (p.Phe1210=) c.3030T>C (p.Phe1010=) c.3978T>C (p.Phe1326=) c.3975T>C (p.Phe1325=) c.3894T>C (p.Phe1298=) c.3825T>C (p.Phe1275=) c.3693T>C (p.Phe1231=) c.3561T>C (p.Phe1187=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436426T>G | CA408563643 | ASXL1 | c.3714T>G (p.Phe1238Leu) c.3531T>G (p.Phe1177Leu) n.6067T>G c.1869+1845T>G (n.1869+1845T>G) c.3699T>G (p.Phe1233Leu) c.3711T>G (p.Phe1237Leu) c.3684T>G (p.Phe1228Leu) c.3630T>G (p.Phe1210Leu) c.3030T>G (p.Phe1010Leu) c.3978T>G (p.Phe1326Leu) c.3975T>G (p.Phe1325Leu) c.3894T>G (p.Phe1298Leu) c.3825T>G (p.Phe1275Leu) c.3693T>G (p.Phe1231Leu) c.3561T>G (p.Phe1187Leu) | |
20 | g.32436426T= | CA2360293696 | ASXL1 | c.3714T= (p.Phe1238=) c.3531T= (p.Phe1177=) n.6067T= c.1869+1845T= (n.1869+1845T=) c.3699T= (p.Phe1233=) c.3711T= (p.Phe1237=) c.3684T= (p.Phe1228=) c.3630T= (p.Phe1210=) c.3030T= (p.Phe1010=) c.3978T= (p.Phe1326=) c.3975T= (p.Phe1325=) c.3894T= (p.Phe1298=) c.3825T= (p.Phe1275=) c.3693T= (p.Phe1231=) c.3561T= (p.Phe1187=) | |
20 | g.32436427A>C | CA408563644 | ASXL1 | c.3715A>C (p.Ser1239Arg) c.3532A>C (p.Ser1178Arg) n.6068A>C c.1869+1846A>C (n.1869+1846A>C) c.3700A>C (p.Ser1234Arg) c.3712A>C (p.Ser1238Arg) c.3685A>C (p.Ser1229Arg) c.3631A>C (p.Ser1211Arg) c.3031A>C (p.Ser1011Arg) c.3979A>C (p.Ser1327Arg) c.3976A>C (p.Ser1326Arg) c.3895A>C (p.Ser1299Arg) c.3826A>C (p.Ser1276Arg) c.3694A>C (p.Ser1232Arg) c.3562A>C (p.Ser1188Arg) | |
20 | g.32436427A>G | CA408563645 | ASXL1 | c.3715A>G (p.Ser1239Gly) c.3532A>G (p.Ser1178Gly) n.6068A>G c.1869+1846A>G (n.1869+1846A>G) c.3700A>G (p.Ser1234Gly) c.3712A>G (p.Ser1238Gly) c.3685A>G (p.Ser1229Gly) c.3631A>G (p.Ser1211Gly) c.3031A>G (p.Ser1011Gly) c.3979A>G (p.Ser1327Gly) c.3976A>G (p.Ser1326Gly) c.3895A>G (p.Ser1299Gly) c.3826A>G (p.Ser1276Gly) c.3694A>G (p.Ser1232Gly) c.3562A>G (p.Ser1188Gly) | |
20 | g.32436427A>T | CA408563646 | ASXL1 | c.3715A>T (p.Ser1239Cys) c.3532A>T (p.Ser1178Cys) n.6068A>T c.1869+1846A>T (n.1869+1846A>T) c.3700A>T (p.Ser1234Cys) c.3712A>T (p.Ser1238Cys) c.3685A>T (p.Ser1229Cys) c.3631A>T (p.Ser1211Cys) c.3031A>T (p.Ser1011Cys) c.3979A>T (p.Ser1327Cys) c.3976A>T (p.Ser1326Cys) c.3895A>T (p.Ser1299Cys) c.3826A>T (p.Ser1276Cys) c.3694A>T (p.Ser1232Cys) c.3562A>T (p.Ser1188Cys) | |
20 | g.32436428G>A | CA408563647 | ASXL1 | c.3716G>A (p.Ser1239Asn) c.3533G>A (p.Ser1178Asn) n.6069G>A c.1869+1847G>A (n.1869+1847G>A) c.3701G>A (p.Ser1234Asn) c.3713G>A (p.Ser1238Asn) c.3686G>A (p.Ser1229Asn) c.3632G>A (p.Ser1211Asn) c.3032G>A (p.Ser1011Asn) c.3980G>A (p.Ser1327Asn) c.3977G>A (p.Ser1326Asn) c.3896G>A (p.Ser1299Asn) c.3827G>A (p.Ser1276Asn) c.3695G>A (p.Ser1232Asn) c.3563G>A (p.Ser1188Asn) | |
20 | g.32436428G>C | CA408563648 | ASXL1 | c.3716G>C (p.Ser1239Thr) c.3533G>C (p.Ser1178Thr) n.6069G>C c.1869+1847G>C (n.1869+1847G>C) c.3701G>C (p.Ser1234Thr) c.3713G>C (p.Ser1238Thr) c.3686G>C (p.Ser1229Thr) c.3632G>C (p.Ser1211Thr) c.3032G>C (p.Ser1011Thr) c.3980G>C (p.Ser1327Thr) c.3977G>C (p.Ser1326Thr) c.3896G>C (p.Ser1299Thr) c.3827G>C (p.Ser1276Thr) c.3695G>C (p.Ser1232Thr) c.3563G>C (p.Ser1188Thr) | |
20 | g.32436428G>T | CA408563649 | ASXL1 | c.3716G>T (p.Ser1239Ile) c.3533G>T (p.Ser1178Ile) n.6069G>T c.1869+1847G>T (n.1869+1847G>T) c.3701G>T (p.Ser1234Ile) c.3713G>T (p.Ser1238Ile) c.3686G>T (p.Ser1229Ile) c.3632G>T (p.Ser1211Ile) c.3032G>T (p.Ser1011Ile) c.3980G>T (p.Ser1327Ile) c.3977G>T (p.Ser1326Ile) c.3896G>T (p.Ser1299Ile) c.3827G>T (p.Ser1276Ile) c.3695G>T (p.Ser1232Ile) c.3563G>T (p.Ser1188Ile) | |
20 | g.32436429T>A | CA408563650 | ASXL1 | c.3717T>A (p.Ser1239Arg) c.3534T>A (p.Ser1178Arg) n.6070T>A c.1869+1848T>A (n.1869+1848T>A) c.3702T>A (p.Ser1234Arg) c.3714T>A (p.Ser1238Arg) c.3687T>A (p.Ser1229Arg) c.3633T>A (p.Ser1211Arg) c.3033T>A (p.Ser1011Arg) c.3981T>A (p.Ser1327Arg) c.3978T>A (p.Ser1326Arg) c.3897T>A (p.Ser1299Arg) c.3828T>A (p.Ser1276Arg) c.3696T>A (p.Ser1232Arg) c.3564T>A (p.Ser1188Arg) | |
20 | g.32436429T>C | CA510467592 | ASXL1 | c.3717T>C (p.Ser1239=) c.3534T>C (p.Ser1178=) n.6070T>C c.1869+1848T>C (n.1869+1848T>C) c.3702T>C (p.Ser1234=) c.3714T>C (p.Ser1238=) c.3687T>C (p.Ser1229=) c.3633T>C (p.Ser1211=) c.3033T>C (p.Ser1011=) c.3981T>C (p.Ser1327=) c.3978T>C (p.Ser1326=) c.3897T>C (p.Ser1299=) c.3828T>C (p.Ser1276=) c.3696T>C (p.Ser1232=) c.3564T>C (p.Ser1188=) | dbSNP |
20 | g.32436429T>G | CA408563651 | ASXL1 | c.3717T>G (p.Ser1239Arg) c.3534T>G (p.Ser1178Arg) n.6070T>G c.1869+1848T>G (n.1869+1848T>G) c.3702T>G (p.Ser1234Arg) c.3714T>G (p.Ser1238Arg) c.3687T>G (p.Ser1229Arg) c.3633T>G (p.Ser1211Arg) c.3033T>G (p.Ser1011Arg) c.3981T>G (p.Ser1327Arg) c.3978T>G (p.Ser1326Arg) c.3897T>G (p.Ser1299Arg) c.3828T>G (p.Ser1276Arg) c.3696T>G (p.Ser1232Arg) c.3564T>G (p.Ser1188Arg) | |
20 | g.32436430T>A | CA408563653 | ASXL1 | c.3718T>A (p.Cys1240Ser) c.3535T>A (p.Cys1179Ser) n.6071T>A c.1869+1849T>A (n.1869+1849T>A) c.3703T>A (p.Cys1235Ser) c.3715T>A (p.Cys1239Ser) c.3688T>A (p.Cys1230Ser) c.3634T>A (p.Cys1212Ser) c.3034T>A (p.Cys1012Ser) c.3982T>A (p.Cys1328Ser) c.3979T>A (p.Cys1327Ser) c.3898T>A (p.Cys1300Ser) c.3829T>A (p.Cys1277Ser) c.3697T>A (p.Cys1233Ser) c.3565T>A (p.Cys1189Ser) | |
20 | g.32436430T>C | CA9808885 | ASXL1 | c.3718T>C (p.Cys1240Arg) c.3535T>C (p.Cys1179Arg) n.6071T>C c.1869+1849T>C (n.1869+1849T>C) c.3703T>C (p.Cys1235Arg) c.3715T>C (p.Cys1239Arg) c.3688T>C (p.Cys1230Arg) c.3634T>C (p.Cys1212Arg) c.3034T>C (p.Cys1012Arg) c.3982T>C (p.Cys1328Arg) c.3979T>C (p.Cys1327Arg) c.3898T>C (p.Cys1300Arg) c.3829T>C (p.Cys1277Arg) c.3697T>C (p.Cys1233Arg) c.3565T>C (p.Cys1189Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436430T>G | CA408563652 | ASXL1 | c.3718T>G (p.Cys1240Gly) c.3535T>G (p.Cys1179Gly) n.6071T>G c.1869+1849T>G (n.1869+1849T>G) c.3703T>G (p.Cys1235Gly) c.3715T>G (p.Cys1239Gly) c.3688T>G (p.Cys1230Gly) c.3634T>G (p.Cys1212Gly) c.3034T>G (p.Cys1012Gly) c.3982T>G (p.Cys1328Gly) c.3979T>G (p.Cys1327Gly) c.3898T>G (p.Cys1300Gly) c.3829T>G (p.Cys1277Gly) c.3697T>G (p.Cys1233Gly) c.3565T>G (p.Cys1189Gly) | |
20 | g.32436430T= | CA2360293697 | ASXL1 | c.3718T= (p.Cys1240=) c.3535T= (p.Cys1179=) n.6071T= c.1869+1849T= (n.1869+1849T=) c.3703T= (p.Cys1235=) c.3715T= (p.Cys1239=) c.3688T= (p.Cys1230=) c.3634T= (p.Cys1212=) c.3034T= (p.Cys1012=) c.3982T= (p.Cys1328=) c.3979T= (p.Cys1327=) c.3898T= (p.Cys1300=) c.3829T= (p.Cys1277=) c.3697T= (p.Cys1233=) c.3565T= (p.Cys1189=) | |
20 | g.32436431G>A | CA408563654 | ASXL1 | c.3719G>A (p.Cys1240Tyr) c.3536G>A (p.Cys1179Tyr) n.6072G>A c.1869+1850G>A (n.1869+1850G>A) c.3704G>A (p.Cys1235Tyr) c.3716G>A (p.Cys1239Tyr) c.3689G>A (p.Cys1230Tyr) c.3635G>A (p.Cys1212Tyr) c.3035G>A (p.Cys1012Tyr) c.3983G>A (p.Cys1328Tyr) c.3980G>A (p.Cys1327Tyr) c.3899G>A (p.Cys1300Tyr) c.3830G>A (p.Cys1277Tyr) c.3698G>A (p.Cys1233Tyr) c.3566G>A (p.Cys1189Tyr) | dbSNP |
20 | g.32436431G>C | CA408563655 | ASXL1 | c.3719G>C (p.Cys1240Ser) c.3536G>C (p.Cys1179Ser) n.6072G>C c.1869+1850G>C (n.1869+1850G>C) c.3704G>C (p.Cys1235Ser) c.3716G>C (p.Cys1239Ser) c.3689G>C (p.Cys1230Ser) c.3635G>C (p.Cys1212Ser) c.3035G>C (p.Cys1012Ser) c.3983G>C (p.Cys1328Ser) c.3980G>C (p.Cys1327Ser) c.3899G>C (p.Cys1300Ser) c.3830G>C (p.Cys1277Ser) c.3698G>C (p.Cys1233Ser) c.3566G>C (p.Cys1189Ser) | |
20 | g.32436431G>T | CA408563656 | ASXL1 | c.3719G>T (p.Cys1240Phe) c.3536G>T (p.Cys1179Phe) n.6072G>T c.1869+1850G>T (n.1869+1850G>T) c.3704G>T (p.Cys1235Phe) c.3716G>T (p.Cys1239Phe) c.3689G>T (p.Cys1230Phe) c.3635G>T (p.Cys1212Phe) c.3035G>T (p.Cys1012Phe) c.3983G>T (p.Cys1328Phe) c.3980G>T (p.Cys1327Phe) c.3899G>T (p.Cys1300Phe) c.3830G>T (p.Cys1277Phe) c.3698G>T (p.Cys1233Phe) c.3566G>T (p.Cys1189Phe) | |
20 | g.32436432T>A | CA408563657 | ASXL1 | c.3720T>A (p.Cys1240Ter) c.3537T>A (p.Cys1179Ter) n.6073T>A c.1869+1851T>A (n.1869+1851T>A) c.3705T>A (p.Cys1235Ter) c.3717T>A (p.Cys1239Ter) c.3690T>A (p.Cys1230Ter) c.3636T>A (p.Cys1212Ter) c.3036T>A (p.Cys1012Ter) c.3984T>A (p.Cys1328Ter) c.3981T>A (p.Cys1327Ter) c.3900T>A (p.Cys1300Ter) c.3831T>A (p.Cys1277Ter) c.3699T>A (p.Cys1233Ter) c.3567T>A (p.Cys1189Ter) | |
20 | g.32436432T>C | CA9808886 | ASXL1 | c.3720T>C (p.Cys1240=) c.3537T>C (p.Cys1179=) n.6073T>C c.1869+1851T>C (n.1869+1851T>C) c.3705T>C (p.Cys1235=) c.3717T>C (p.Cys1239=) c.3690T>C (p.Cys1230=) c.3636T>C (p.Cys1212=) c.3036T>C (p.Cys1012=) c.3984T>C (p.Cys1328=) c.3981T>C (p.Cys1327=) c.3900T>C (p.Cys1300=) c.3831T>C (p.Cys1277=) c.3699T>C (p.Cys1233=) c.3567T>C (p.Cys1189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436432T>G | CA408563658 | ASXL1 | c.3720T>G (p.Cys1240Trp) c.3537T>G (p.Cys1179Trp) n.6073T>G c.1869+1851T>G (n.1869+1851T>G) c.3705T>G (p.Cys1235Trp) c.3717T>G (p.Cys1239Trp) c.3690T>G (p.Cys1230Trp) c.3636T>G (p.Cys1212Trp) c.3036T>G (p.Cys1012Trp) c.3984T>G (p.Cys1328Trp) c.3981T>G (p.Cys1327Trp) c.3900T>G (p.Cys1300Trp) c.3831T>G (p.Cys1277Trp) c.3699T>G (p.Cys1233Trp) c.3567T>G (p.Cys1189Trp) | |
20 | g.32436432T= | CA2360293698 | ASXL1 | c.3720T= (p.Cys1240=) c.3537T= (p.Cys1179=) n.6073T= c.1869+1851T= (n.1869+1851T=) c.3705T= (p.Cys1235=) c.3717T= (p.Cys1239=) c.3690T= (p.Cys1230=) c.3636T= (p.Cys1212=) c.3036T= (p.Cys1012=) c.3984T= (p.Cys1328=) c.3981T= (p.Cys1327=) c.3900T= (p.Cys1300=) c.3831T= (p.Cys1277=) c.3699T= (p.Cys1233=) c.3567T= (p.Cys1189=) | |
20 | g.32436433G>A | CA313926356 | ASXL1 | c.3721G>A (p.Glu1241Lys) c.3538G>A (p.Glu1180Lys) n.6074G>A c.1869+1852G>A (n.1869+1852G>A) c.3706G>A (p.Glu1236Lys) c.3718G>A (p.Glu1240Lys) c.3691G>A (p.Glu1231Lys) c.3637G>A (p.Glu1213Lys) c.3037G>A (p.Glu1013Lys) c.3985G>A (p.Glu1329Lys) c.3982G>A (p.Glu1328Lys) c.3901G>A (p.Glu1301Lys) c.3832G>A (p.Glu1278Lys) c.3700G>A (p.Glu1234Lys) c.3568G>A (p.Glu1190Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.32436433G>C | CA408563659 | ASXL1 | c.3721G>C (p.Glu1241Gln) c.3538G>C (p.Glu1180Gln) n.6074G>C c.1869+1852G>C (n.1869+1852G>C) c.3706G>C (p.Glu1236Gln) c.3718G>C (p.Glu1240Gln) c.3691G>C (p.Glu1231Gln) c.3637G>C (p.Glu1213Gln) c.3037G>C (p.Glu1013Gln) c.3985G>C (p.Glu1329Gln) c.3982G>C (p.Glu1328Gln) c.3901G>C (p.Glu1301Gln) c.3832G>C (p.Glu1278Gln) c.3700G>C (p.Glu1234Gln) c.3568G>C (p.Glu1190Gln) | |
20 | g.32436433G= | CA2360293699 | ASXL1 | c.3721G= (p.Glu1241=) c.3538G= (p.Glu1180=) n.6074G= c.1869+1852G= (n.1869+1852G=) c.3706G= (p.Glu1236=) c.3718G= (p.Glu1240=) c.3691G= (p.Glu1231=) c.3637G= (p.Glu1213=) c.3037G= (p.Glu1013=) c.3985G= (p.Glu1329=) c.3982G= (p.Glu1328=) c.3901G= (p.Glu1301=) c.3832G= (p.Glu1278=) c.3700G= (p.Glu1234=) c.3568G= (p.Glu1190=) | |
20 | g.32436433G>T | CA408563660 | ASXL1 | c.3721G>T (p.Glu1241Ter) c.3538G>T (p.Glu1180Ter) n.6074G>T c.1869+1852G>T (n.1869+1852G>T) c.3706G>T (p.Glu1236Ter) c.3718G>T (p.Glu1240Ter) c.3691G>T (p.Glu1231Ter) c.3637G>T (p.Glu1213Ter) c.3037G>T (p.Glu1013Ter) c.3985G>T (p.Glu1329Ter) c.3982G>T (p.Glu1328Ter) c.3901G>T (p.Glu1301Ter) c.3832G>T (p.Glu1278Ter) c.3700G>T (p.Glu1234Ter) c.3568G>T (p.Glu1190Ter) | |
20 | g.32436434A>C | CA408563661 | ASXL1 | c.3722A>C (p.Glu1241Ala) c.3539A>C (p.Glu1180Ala) n.6075A>C c.1869+1853A>C (n.1869+1853A>C) c.3707A>C (p.Glu1236Ala) c.3719A>C (p.Glu1240Ala) c.3692A>C (p.Glu1231Ala) c.3638A>C (p.Glu1213Ala) c.3038A>C (p.Glu1013Ala) c.3986A>C (p.Glu1329Ala) c.3983A>C (p.Glu1328Ala) c.3902A>C (p.Glu1301Ala) c.3833A>C (p.Glu1278Ala) c.3701A>C (p.Glu1234Ala) c.3569A>C (p.Glu1190Ala) | |
20 | g.32436434A>G | CA408563662 | ASXL1 | c.3722A>G (p.Glu1241Gly) c.3539A>G (p.Glu1180Gly) n.6075A>G c.1869+1853A>G (n.1869+1853A>G) c.3707A>G (p.Glu1236Gly) c.3719A>G (p.Glu1240Gly) c.3692A>G (p.Glu1231Gly) c.3638A>G (p.Glu1213Gly) c.3038A>G (p.Glu1013Gly) c.3986A>G (p.Glu1329Gly) c.3983A>G (p.Glu1328Gly) c.3902A>G (p.Glu1301Gly) c.3833A>G (p.Glu1278Gly) c.3701A>G (p.Glu1234Gly) c.3569A>G (p.Glu1190Gly) | |
20 | g.32436434A>T | CA408563663 | ASXL1 | c.3722A>T (p.Glu1241Val) c.3539A>T (p.Glu1180Val) n.6075A>T c.1869+1853A>T (n.1869+1853A>T) c.3707A>T (p.Glu1236Val) c.3719A>T (p.Glu1240Val) c.3692A>T (p.Glu1231Val) c.3638A>T (p.Glu1213Val) c.3038A>T (p.Glu1013Val) c.3986A>T (p.Glu1329Val) c.3983A>T (p.Glu1328Val) c.3902A>T (p.Glu1301Val) c.3833A>T (p.Glu1278Val) c.3701A>T (p.Glu1234Val) c.3569A>T (p.Glu1190Val) | gnomAD v3 gnomAD v4 |
20 | g.32436435A>C | CA408563664 | ASXL1 | c.3723A>C (p.Glu1241Asp) c.3540A>C (p.Glu1180Asp) n.6076A>C c.1869+1854A>C (n.1869+1854A>C) c.3708A>C (p.Glu1236Asp) c.3720A>C (p.Glu1240Asp) c.3693A>C (p.Glu1231Asp) c.3639A>C (p.Glu1213Asp) c.3039A>C (p.Glu1013Asp) c.3987A>C (p.Glu1329Asp) c.3984A>C (p.Glu1328Asp) c.3903A>C (p.Glu1301Asp) c.3834A>C (p.Glu1278Asp) c.3702A>C (p.Glu1234Asp) c.3570A>C (p.Glu1190Asp) | |
20 | g.32436435A>G | CA510467597 | ASXL1 | c.3723A>G (p.Glu1241=) c.3540A>G (p.Glu1180=) n.6076A>G c.1869+1854A>G (n.1869+1854A>G) c.3708A>G (p.Glu1236=) c.3720A>G (p.Glu1240=) c.3693A>G (p.Glu1231=) c.3639A>G (p.Glu1213=) c.3039A>G (p.Glu1013=) c.3987A>G (p.Glu1329=) c.3984A>G (p.Glu1328=) c.3903A>G (p.Glu1301=) c.3834A>G (p.Glu1278=) c.3702A>G (p.Glu1234=) c.3570A>G (p.Glu1190=) | |
20 | g.32436435A>T | CA408563665 | ASXL1 | c.3723A>T (p.Glu1241Asp) c.3540A>T (p.Glu1180Asp) n.6076A>T c.1869+1854A>T (n.1869+1854A>T) c.3708A>T (p.Glu1236Asp) c.3720A>T (p.Glu1240Asp) c.3693A>T (p.Glu1231Asp) c.3639A>T (p.Glu1213Asp) c.3039A>T (p.Glu1013Asp) c.3987A>T (p.Glu1329Asp) c.3984A>T (p.Glu1328Asp) c.3903A>T (p.Glu1301Asp) c.3834A>T (p.Glu1278Asp) c.3702A>T (p.Glu1234Asp) c.3570A>T (p.Glu1190Asp) | |
20 | g.32436436G>A | CA408563666 | ASXL1 | c.3724G>A (p.Asp1242Asn) c.3541G>A (p.Asp1181Asn) n.6077G>A c.1869+1855G>A (n.1869+1855G>A) c.3709G>A (p.Asp1237Asn) c.3721G>A (p.Asp1241Asn) c.3694G>A (p.Asp1232Asn) c.3640G>A (p.Asp1214Asn) c.3040G>A (p.Asp1014Asn) c.3988G>A (p.Asp1330Asn) c.3985G>A (p.Asp1329Asn) c.3904G>A (p.Asp1302Asn) c.3835G>A (p.Asp1279Asn) c.3703G>A (p.Asp1235Asn) c.3571G>A (p.Asp1191Asn) | dbSNP |
20 | g.32436436G>C | CA408563668 | ASXL1 | c.3724G>C (p.Asp1242His) c.3541G>C (p.Asp1181His) n.6077G>C c.1869+1855G>C (n.1869+1855G>C) c.3709G>C (p.Asp1237His) c.3721G>C (p.Asp1241His) c.3694G>C (p.Asp1232His) c.3640G>C (p.Asp1214His) c.3040G>C (p.Asp1014His) c.3988G>C (p.Asp1330His) c.3985G>C (p.Asp1329His) c.3904G>C (p.Asp1302His) c.3835G>C (p.Asp1279His) c.3703G>C (p.Asp1235His) c.3571G>C (p.Asp1191His) | |
20 | g.32436436G= | CA2360293700 | ASXL1 | c.3724G= (p.Asp1242=) c.3541G= (p.Asp1181=) n.6077G= c.1869+1855G= (n.1869+1855G=) c.3709G= (p.Asp1237=) c.3721G= (p.Asp1241=) c.3694G= (p.Asp1232=) c.3640G= (p.Asp1214=) c.3040G= (p.Asp1014=) c.3988G= (p.Asp1330=) c.3985G= (p.Asp1329=) c.3904G= (p.Asp1302=) c.3835G= (p.Asp1279=) c.3703G= (p.Asp1235=) c.3571G= (p.Asp1191=) | |
20 | g.32436436G>T | CA408563667 | ASXL1 | c.3724G>T (p.Asp1242Tyr) c.3541G>T (p.Asp1181Tyr) n.6077G>T c.1869+1855G>T (n.1869+1855G>T) c.3709G>T (p.Asp1237Tyr) c.3721G>T (p.Asp1241Tyr) c.3694G>T (p.Asp1232Tyr) c.3640G>T (p.Asp1214Tyr) c.3040G>T (p.Asp1014Tyr) c.3988G>T (p.Asp1330Tyr) c.3985G>T (p.Asp1329Tyr) c.3904G>T (p.Asp1302Tyr) c.3835G>T (p.Asp1279Tyr) c.3703G>T (p.Asp1235Tyr) c.3571G>T (p.Asp1191Tyr) | |
20 | g.32436437A= | CA2360293701 | ASXL1 | c.3725A= (p.Asp1242=) c.3542A= (p.Asp1181=) n.6078A= c.1869+1856A= (n.1869+1856A=) c.3710A= (p.Asp1237=) c.3722A= (p.Asp1241=) c.3695A= (p.Asp1232=) c.3641A= (p.Asp1214=) c.3041A= (p.Asp1014=) c.3989A= (p.Asp1330=) c.3986A= (p.Asp1329=) c.3905A= (p.Asp1302=) c.3836A= (p.Asp1279=) c.3704A= (p.Asp1235=) c.3572A= (p.Asp1191=) | |
20 | g.32436437A>C | CA408563669 | ASXL1 | c.3725A>C (p.Asp1242Ala) c.3542A>C (p.Asp1181Ala) n.6078A>C c.1869+1856A>C (n.1869+1856A>C) c.3710A>C (p.Asp1237Ala) c.3722A>C (p.Asp1241Ala) c.3695A>C (p.Asp1232Ala) c.3641A>C (p.Asp1214Ala) c.3041A>C (p.Asp1014Ala) c.3989A>C (p.Asp1330Ala) c.3986A>C (p.Asp1329Ala) c.3905A>C (p.Asp1302Ala) c.3836A>C (p.Asp1279Ala) c.3704A>C (p.Asp1235Ala) c.3572A>C (p.Asp1191Ala) | |
20 | g.32436437A>G | CA408563670 | ASXL1 | c.3725A>G (p.Asp1242Gly) c.3542A>G (p.Asp1181Gly) n.6078A>G c.1869+1856A>G (n.1869+1856A>G) c.3710A>G (p.Asp1237Gly) c.3722A>G (p.Asp1241Gly) c.3695A>G (p.Asp1232Gly) c.3641A>G (p.Asp1214Gly) c.3041A>G (p.Asp1014Gly) c.3989A>G (p.Asp1330Gly) c.3986A>G (p.Asp1329Gly) c.3905A>G (p.Asp1302Gly) c.3836A>G (p.Asp1279Gly) c.3704A>G (p.Asp1235Gly) c.3572A>G (p.Asp1191Gly) | ClinVar dbSNP |
20 | g.32436437A>T | CA408563671 | ASXL1 | c.3725A>T (p.Asp1242Val) c.3542A>T (p.Asp1181Val) n.6078A>T c.1869+1856A>T (n.1869+1856A>T) c.3710A>T (p.Asp1237Val) c.3722A>T (p.Asp1241Val) c.3695A>T (p.Asp1232Val) c.3641A>T (p.Asp1214Val) c.3041A>T (p.Asp1014Val) c.3989A>T (p.Asp1330Val) c.3986A>T (p.Asp1329Val) c.3905A>T (p.Asp1302Val) c.3836A>T (p.Asp1279Val) c.3704A>T (p.Asp1235Val) c.3572A>T (p.Asp1191Val) | |
20 | g.32436438T>A | CA408563672 | ASXL1 | c.3726T>A (p.Asp1242Glu) c.3543T>A (p.Asp1181Glu) n.6079T>A c.1869+1857T>A (n.1869+1857T>A) c.3711T>A (p.Asp1237Glu) c.3723T>A (p.Asp1241Glu) c.3696T>A (p.Asp1232Glu) c.3642T>A (p.Asp1214Glu) c.3042T>A (p.Asp1014Glu) c.3990T>A (p.Asp1330Glu) c.3987T>A (p.Asp1329Glu) c.3906T>A (p.Asp1302Glu) c.3837T>A (p.Asp1279Glu) c.3705T>A (p.Asp1235Glu) c.3573T>A (p.Asp1191Glu) | |
20 | g.32436438T>C | CA510467599 | ASXL1 | c.3726T>C (p.Asp1242=) c.3543T>C (p.Asp1181=) n.6079T>C c.1869+1857T>C (n.1869+1857T>C) c.3711T>C (p.Asp1237=) c.3723T>C (p.Asp1241=) c.3696T>C (p.Asp1232=) c.3642T>C (p.Asp1214=) c.3042T>C (p.Asp1014=) c.3990T>C (p.Asp1330=) c.3987T>C (p.Asp1329=) c.3906T>C (p.Asp1302=) c.3837T>C (p.Asp1279=) c.3705T>C (p.Asp1235=) c.3573T>C (p.Asp1191=) | |
20 | g.32436438T>G | CA408563673 | ASXL1 | c.3726T>G (p.Asp1242Glu) c.3543T>G (p.Asp1181Glu) n.6079T>G c.1869+1857T>G (n.1869+1857T>G) c.3711T>G (p.Asp1237Glu) c.3723T>G (p.Asp1241Glu) c.3696T>G (p.Asp1232Glu) c.3642T>G (p.Asp1214Glu) c.3042T>G (p.Asp1014Glu) c.3990T>G (p.Asp1330Glu) c.3987T>G (p.Asp1329Glu) c.3906T>G (p.Asp1302Glu) c.3837T>G (p.Asp1279Glu) c.3705T>G (p.Asp1235Glu) c.3573T>G (p.Asp1191Glu) | |
20 | g.32436439del | CA2838759597 | ASXL1 | c.3727del (p.Gln1243ArgfsTer?) c.3544del (p.Gln1182ArgfsTer?) n.6080del c.1869+1858del (n.1869+1858del) c.3712del (p.Gln1238ArgfsTer?) c.3724del (p.Gln1242ArgfsTer?) c.3697del (p.Gln1233ArgfsTer?) c.3643del (p.Gln1215ArgfsTer?) c.3043del (p.Gln1015ArgfsTer?) c.3991del (p.Gln1331ArgfsTer?) c.3988del (p.Gln1330ArgfsTer?) c.3907del (p.Gln1303ArgfsTer?) c.3838del (p.Gln1280ArgfsTer?) c.3706del (p.Gln1236ArgfsTer?) c.3574del (p.Gln1192ArgfsTer?) | |
20 | g.32436439C>A | CA408563674 | ASXL1 | c.3727C>A (p.Gln1243Lys) c.3544C>A (p.Gln1182Lys) n.6080C>A c.1869+1858C>A (n.1869+1858C>A) c.3712C>A (p.Gln1238Lys) c.3724C>A (p.Gln1242Lys) c.3697C>A (p.Gln1233Lys) c.3643C>A (p.Gln1215Lys) c.3043C>A (p.Gln1015Lys) c.3991C>A (p.Gln1331Lys) c.3988C>A (p.Gln1330Lys) c.3907C>A (p.Gln1303Lys) c.3838C>A (p.Gln1280Lys) c.3706C>A (p.Gln1236Lys) c.3574C>A (p.Gln1192Lys) | |
20 | g.32436439C>G | CA408563675 | ASXL1 | c.3727C>G (p.Gln1243Glu) c.3544C>G (p.Gln1182Glu) n.6080C>G c.1869+1858C>G (n.1869+1858C>G) c.3712C>G (p.Gln1238Glu) c.3724C>G (p.Gln1242Glu) c.3697C>G (p.Gln1233Glu) c.3643C>G (p.Gln1215Glu) c.3043C>G (p.Gln1015Glu) c.3991C>G (p.Gln1331Glu) c.3988C>G (p.Gln1330Glu) c.3907C>G (p.Gln1303Glu) c.3838C>G (p.Gln1280Glu) c.3706C>G (p.Gln1236Glu) c.3574C>G (p.Gln1192Glu) | |
20 | g.32436439C>T | CA408563676 | ASXL1 | c.3727C>T (p.Gln1243Ter) c.3544C>T (p.Gln1182Ter) n.6080C>T c.1869+1858C>T (n.1869+1858C>T) c.3712C>T (p.Gln1238Ter) c.3724C>T (p.Gln1242Ter) c.3697C>T (p.Gln1233Ter) c.3643C>T (p.Gln1215Ter) c.3043C>T (p.Gln1015Ter) c.3991C>T (p.Gln1331Ter) c.3988C>T (p.Gln1330Ter) c.3907C>T (p.Gln1303Ter) c.3838C>T (p.Gln1280Ter) c.3706C>T (p.Gln1236Ter) c.3574C>T (p.Gln1192Ter) | |
20 | g.32436440A>C | CA408563677 | ASXL1 | c.3728A>C (p.Gln1243Pro) c.3545A>C (p.Gln1182Pro) n.6081A>C c.1869+1859A>C (n.1869+1859A>C) c.3713A>C (p.Gln1238Pro) c.3725A>C (p.Gln1242Pro) c.3698A>C (p.Gln1233Pro) c.3644A>C (p.Gln1215Pro) c.3044A>C (p.Gln1015Pro) c.3992A>C (p.Gln1331Pro) c.3989A>C (p.Gln1330Pro) c.3908A>C (p.Gln1303Pro) c.3839A>C (p.Gln1280Pro) c.3707A>C (p.Gln1236Pro) c.3575A>C (p.Gln1192Pro) | |
20 | g.32436440A>G | CA408563678 | ASXL1 | c.3728A>G (p.Gln1243Arg) c.3545A>G (p.Gln1182Arg) n.6081A>G c.1869+1859A>G (n.1869+1859A>G) c.3713A>G (p.Gln1238Arg) c.3725A>G (p.Gln1242Arg) c.3698A>G (p.Gln1233Arg) c.3644A>G (p.Gln1215Arg) c.3044A>G (p.Gln1015Arg) c.3992A>G (p.Gln1331Arg) c.3989A>G (p.Gln1330Arg) c.3908A>G (p.Gln1303Arg) c.3839A>G (p.Gln1280Arg) c.3707A>G (p.Gln1236Arg) c.3575A>G (p.Gln1192Arg) | |
20 | g.32436440A>T | CA408563679 | ASXL1 | c.3728A>T (p.Gln1243Leu) c.3545A>T (p.Gln1182Leu) n.6081A>T c.1869+1859A>T (n.1869+1859A>T) c.3713A>T (p.Gln1238Leu) c.3725A>T (p.Gln1242Leu) c.3698A>T (p.Gln1233Leu) c.3644A>T (p.Gln1215Leu) c.3044A>T (p.Gln1015Leu) c.3992A>T (p.Gln1331Leu) c.3989A>T (p.Gln1330Leu) c.3908A>T (p.Gln1303Leu) c.3839A>T (p.Gln1280Leu) c.3707A>T (p.Gln1236Leu) c.3575A>T (p.Gln1192Leu) | |
20 | g.32436440_32436448del | CA2564321228 | ASXL1 | c.3728_3736del (p.Gln1243_Val1246delinsLeu) c.3545_3553del (p.Gln1182_Val1185delinsLeu) n.6081_6089del c.1869+1859_1869+1867del (n.1869+1859_1869+1867del) c.3713_3721del (p.Gln1238_Val1241delinsLeu) c.3725_3733del (p.Gln1242_Val1245delinsLeu) c.3698_3706del (p.Gln1233_Val1236delinsLeu) c.3644_3652del (p.Gln1215_Val1218delinsLeu) c.3044_3052del (p.Gln1015_Val1018delinsLeu) c.3992_4000del (p.Gln1331_Val1334delinsLeu) c.3989_3997del (p.Gln1330_Val1333delinsLeu) c.3908_3916del (p.Gln1303_Val1306delinsLeu) c.3839_3847del (p.Gln1280_Val1283delinsLeu) c.3707_3715del (p.Gln1236_Val1239delinsLeu) c.3575_3583del (p.Gln1192_Val1195delinsLeu) | |
20 | g.32436441G>A | CA510467603 | ASXL1 | c.3729G>A (p.Gln1243=) c.3546G>A (p.Gln1182=) n.6082G>A c.1869+1860G>A (n.1869+1860G>A) c.3714G>A (p.Gln1238=) c.3726G>A (p.Gln1242=) c.3699G>A (p.Gln1233=) c.3645G>A (p.Gln1215=) c.3045G>A (p.Gln1015=) c.3993G>A (p.Gln1331=) c.3990G>A (p.Gln1330=) c.3909G>A (p.Gln1303=) c.3840G>A (p.Gln1280=) c.3708G>A (p.Gln1236=) c.3576G>A (p.Gln1192=) | |
20 | g.32436441G>C | CA408563681 | ASXL1 | c.3729G>C (p.Gln1243His) c.3546G>C (p.Gln1182His) n.6082G>C c.1869+1860G>C (n.1869+1860G>C) c.3714G>C (p.Gln1238His) c.3726G>C (p.Gln1242His) c.3699G>C (p.Gln1233His) c.3645G>C (p.Gln1215His) c.3045G>C (p.Gln1015His) c.3993G>C (p.Gln1331His) c.3990G>C (p.Gln1330His) c.3909G>C (p.Gln1303His) c.3840G>C (p.Gln1280His) c.3708G>C (p.Gln1236His) c.3576G>C (p.Gln1192His) | gnomAD v4 |
20 | g.32436441G>T | CA408563680 | ASXL1 | c.3729G>T (p.Gln1243His) c.3546G>T (p.Gln1182His) n.6082G>T c.1869+1860G>T (n.1869+1860G>T) c.3714G>T (p.Gln1238His) c.3726G>T (p.Gln1242His) c.3699G>T (p.Gln1233His) c.3645G>T (p.Gln1215His) c.3045G>T (p.Gln1015His) c.3993G>T (p.Gln1331His) c.3990G>T (p.Gln1330His) c.3909G>T (p.Gln1303His) c.3840G>T (p.Gln1280His) c.3708G>T (p.Gln1236His) c.3576G>T (p.Gln1192His) | gnomAD v4 |
20 | g.32436442A= | CA2360293702 | ASXL1 | c.3730A= (p.Lys1244=) c.3547A= (p.Lys1183=) n.6083A= c.1869+1861A= (n.1869+1861A=) c.3715A= (p.Lys1239=) c.3727A= (p.Lys1243=) c.3700A= (p.Lys1234=) c.3646A= (p.Lys1216=) c.3046A= (p.Lys1016=) c.3994A= (p.Lys1332=) c.3991A= (p.Lys1331=) c.3910A= (p.Lys1304=) c.3841A= (p.Lys1281=) c.3709A= (p.Lys1237=) c.3577A= (p.Lys1193=) | |
20 | g.32436442A>C | CA408563682 | ASXL1 | c.3730A>C (p.Lys1244Gln) c.3547A>C (p.Lys1183Gln) n.6083A>C c.1869+1861A>C (n.1869+1861A>C) c.3715A>C (p.Lys1239Gln) c.3727A>C (p.Lys1243Gln) c.3700A>C (p.Lys1234Gln) c.3646A>C (p.Lys1216Gln) c.3046A>C (p.Lys1016Gln) c.3994A>C (p.Lys1332Gln) c.3991A>C (p.Lys1331Gln) c.3910A>C (p.Lys1304Gln) c.3841A>C (p.Lys1281Gln) c.3709A>C (p.Lys1237Gln) c.3577A>C (p.Lys1193Gln) | |
20 | g.32436442A>G | CA9808887 | ASXL1 | c.3730A>G (p.Lys1244Glu) c.3547A>G (p.Lys1183Glu) n.6083A>G c.1869+1861A>G (n.1869+1861A>G) c.3715A>G (p.Lys1239Glu) c.3727A>G (p.Lys1243Glu) c.3700A>G (p.Lys1234Glu) c.3646A>G (p.Lys1216Glu) c.3046A>G (p.Lys1016Glu) c.3994A>G (p.Lys1332Glu) c.3991A>G (p.Lys1331Glu) c.3910A>G (p.Lys1304Glu) c.3841A>G (p.Lys1281Glu) c.3709A>G (p.Lys1237Glu) c.3577A>G (p.Lys1193Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436442A>T | CA408563683 | ASXL1 | c.3730A>T (p.Lys1244Ter) c.3547A>T (p.Lys1183Ter) n.6083A>T c.1869+1861A>T (n.1869+1861A>T) c.3715A>T (p.Lys1239Ter) c.3727A>T (p.Lys1243Ter) c.3700A>T (p.Lys1234Ter) c.3646A>T (p.Lys1216Ter) c.3046A>T (p.Lys1016Ter) c.3994A>T (p.Lys1332Ter) c.3991A>T (p.Lys1331Ter) c.3910A>T (p.Lys1304Ter) c.3841A>T (p.Lys1281Ter) c.3709A>T (p.Lys1237Ter) c.3577A>T (p.Lys1193Ter) | |
20 | g.32436443A>C | CA408563684 | ASXL1 | c.3731A>C (p.Lys1244Thr) c.3548A>C (p.Lys1183Thr) n.6084A>C c.1869+1862A>C (n.1869+1862A>C) c.3716A>C (p.Lys1239Thr) c.3728A>C (p.Lys1243Thr) c.3701A>C (p.Lys1234Thr) c.3647A>C (p.Lys1216Thr) c.3047A>C (p.Lys1016Thr) c.3995A>C (p.Lys1332Thr) c.3992A>C (p.Lys1331Thr) c.3911A>C (p.Lys1304Thr) c.3842A>C (p.Lys1281Thr) c.3710A>C (p.Lys1237Thr) c.3578A>C (p.Lys1193Thr) | |
20 | g.32436443A>G | CA408563685 | ASXL1 | c.3731A>G (p.Lys1244Arg) c.3548A>G (p.Lys1183Arg) n.6084A>G c.1869+1862A>G (n.1869+1862A>G) c.3716A>G (p.Lys1239Arg) c.3728A>G (p.Lys1243Arg) c.3701A>G (p.Lys1234Arg) c.3647A>G (p.Lys1216Arg) c.3047A>G (p.Lys1016Arg) c.3995A>G (p.Lys1332Arg) c.3992A>G (p.Lys1331Arg) c.3911A>G (p.Lys1304Arg) c.3842A>G (p.Lys1281Arg) c.3710A>G (p.Lys1237Arg) c.3578A>G (p.Lys1193Arg) | |
20 | g.32436443A>T | CA408563686 | ASXL1 | c.3731A>T (p.Lys1244Met) c.3548A>T (p.Lys1183Met) n.6084A>T c.1869+1862A>T (n.1869+1862A>T) c.3716A>T (p.Lys1239Met) c.3728A>T (p.Lys1243Met) c.3701A>T (p.Lys1234Met) c.3647A>T (p.Lys1216Met) c.3047A>T (p.Lys1016Met) c.3995A>T (p.Lys1332Met) c.3992A>T (p.Lys1331Met) c.3911A>T (p.Lys1304Met) c.3842A>T (p.Lys1281Met) c.3710A>T (p.Lys1237Met) c.3578A>T (p.Lys1193Met) | |
20 | g.32436444G>A | CA313926357 | ASXL1 | c.3732G>A (p.Lys1244=) c.3549G>A (p.Lys1183=) n.6085G>A c.1869+1863G>A (n.1869+1863G>A) c.3717G>A (p.Lys1239=) c.3729G>A (p.Lys1243=) c.3702G>A (p.Lys1234=) c.3648G>A (p.Lys1216=) c.3048G>A (p.Lys1016=) c.3996G>A (p.Lys1332=) c.3993G>A (p.Lys1331=) c.3912G>A (p.Lys1304=) c.3843G>A (p.Lys1281=) c.3711G>A (p.Lys1237=) c.3579G>A (p.Lys1193=) | dbSNP gnomAD v4 |
20 | g.32436444G>C | CA408563687 | ASXL1 | c.3732G>C (p.Lys1244Asn) c.3549G>C (p.Lys1183Asn) n.6085G>C c.1869+1863G>C (n.1869+1863G>C) c.3717G>C (p.Lys1239Asn) c.3729G>C (p.Lys1243Asn) c.3702G>C (p.Lys1234Asn) c.3648G>C (p.Lys1216Asn) c.3048G>C (p.Lys1016Asn) c.3996G>C (p.Lys1332Asn) c.3993G>C (p.Lys1331Asn) c.3912G>C (p.Lys1304Asn) c.3843G>C (p.Lys1281Asn) c.3711G>C (p.Lys1237Asn) c.3579G>C (p.Lys1193Asn) | |
20 | g.32436444G= | CA2360293703 | ASXL1 | c.3732G= (p.Lys1244=) c.3549G= (p.Lys1183=) n.6085G= c.1869+1863G= (n.1869+1863G=) c.3717G= (p.Lys1239=) c.3729G= (p.Lys1243=) c.3702G= (p.Lys1234=) c.3648G= (p.Lys1216=) c.3048G= (p.Lys1016=) c.3996G= (p.Lys1332=) c.3993G= (p.Lys1331=) c.3912G= (p.Lys1304=) c.3843G= (p.Lys1281=) c.3711G= (p.Lys1237=) c.3579G= (p.Lys1193=) | |
20 | g.32436444G>T | CA408563688 | ASXL1 | c.3732G>T (p.Lys1244Asn) c.3549G>T (p.Lys1183Asn) n.6085G>T c.1869+1863G>T (n.1869+1863G>T) c.3717G>T (p.Lys1239Asn) c.3729G>T (p.Lys1243Asn) c.3702G>T (p.Lys1234Asn) c.3648G>T (p.Lys1216Asn) c.3048G>T (p.Lys1016Asn) c.3996G>T (p.Lys1332Asn) c.3993G>T (p.Lys1331Asn) c.3912G>T (p.Lys1304Asn) c.3843G>T (p.Lys1281Asn) c.3711G>T (p.Lys1237Asn) c.3579G>T (p.Lys1193Asn) | |
20 | g.32436445G>A | CA408563689 | ASXL1 | c.3733G>A (p.Glu1245Lys) c.3550G>A (p.Glu1184Lys) n.6086G>A c.1869+1864G>A (n.1869+1864G>A) c.3718G>A (p.Glu1240Lys) c.3730G>A (p.Glu1244Lys) c.3703G>A (p.Glu1235Lys) c.3649G>A (p.Glu1217Lys) c.3049G>A (p.Glu1017Lys) c.3997G>A (p.Glu1333Lys) c.3994G>A (p.Glu1332Lys) c.3913G>A (p.Glu1305Lys) c.3844G>A (p.Glu1282Lys) c.3712G>A (p.Glu1238Lys) c.3580G>A (p.Glu1194Lys) | |
20 | g.32436445G>C | CA408563690 | ASXL1 | c.3733G>C (p.Glu1245Gln) c.3550G>C (p.Glu1184Gln) n.6086G>C c.1869+1864G>C (n.1869+1864G>C) c.3718G>C (p.Glu1240Gln) c.3730G>C (p.Glu1244Gln) c.3703G>C (p.Glu1235Gln) c.3649G>C (p.Glu1217Gln) c.3049G>C (p.Glu1017Gln) c.3997G>C (p.Glu1333Gln) c.3994G>C (p.Glu1332Gln) c.3913G>C (p.Glu1305Gln) c.3844G>C (p.Glu1282Gln) c.3712G>C (p.Glu1238Gln) c.3580G>C (p.Glu1194Gln) | dbSNP |
20 | g.32436445G>T | CA408563691 | ASXL1 | c.3733G>T (p.Glu1245Ter) c.3550G>T (p.Glu1184Ter) n.6086G>T c.1869+1864G>T (n.1869+1864G>T) c.3718G>T (p.Glu1240Ter) c.3730G>T (p.Glu1244Ter) c.3703G>T (p.Glu1235Ter) c.3649G>T (p.Glu1217Ter) c.3049G>T (p.Glu1017Ter) c.3997G>T (p.Glu1333Ter) c.3994G>T (p.Glu1332Ter) c.3913G>T (p.Glu1305Ter) c.3844G>T (p.Glu1282Ter) c.3712G>T (p.Glu1238Ter) c.3580G>T (p.Glu1194Ter) | |
20 | g.32436446A>C | CA408563692 | ASXL1 | c.3734A>C (p.Glu1245Ala) c.3551A>C (p.Glu1184Ala) n.6087A>C c.1869+1865A>C (n.1869+1865A>C) c.3719A>C (p.Glu1240Ala) c.3731A>C (p.Glu1244Ala) c.3704A>C (p.Glu1235Ala) c.3650A>C (p.Glu1217Ala) c.3050A>C (p.Glu1017Ala) c.3998A>C (p.Glu1333Ala) c.3995A>C (p.Glu1332Ala) c.3914A>C (p.Glu1305Ala) c.3845A>C (p.Glu1282Ala) c.3713A>C (p.Glu1238Ala) c.3581A>C (p.Glu1194Ala) | |
20 | g.32436446A>G | CA408563693 | ASXL1 | c.3734A>G (p.Glu1245Gly) c.3551A>G (p.Glu1184Gly) n.6087A>G c.1869+1865A>G (n.1869+1865A>G) c.3719A>G (p.Glu1240Gly) c.3731A>G (p.Glu1244Gly) c.3704A>G (p.Glu1235Gly) c.3650A>G (p.Glu1217Gly) c.3050A>G (p.Glu1017Gly) c.3998A>G (p.Glu1333Gly) c.3995A>G (p.Glu1332Gly) c.3914A>G (p.Glu1305Gly) c.3845A>G (p.Glu1282Gly) c.3713A>G (p.Glu1238Gly) c.3581A>G (p.Glu1194Gly) | |
20 | g.32436446A>T | CA408563694 | ASXL1 | c.3734A>T (p.Glu1245Val) c.3551A>T (p.Glu1184Val) n.6087A>T c.1869+1865A>T (n.1869+1865A>T) c.3719A>T (p.Glu1240Val) c.3731A>T (p.Glu1244Val) c.3704A>T (p.Glu1235Val) c.3650A>T (p.Glu1217Val) c.3050A>T (p.Glu1017Val) c.3998A>T (p.Glu1333Val) c.3995A>T (p.Glu1332Val) c.3914A>T (p.Glu1305Val) c.3845A>T (p.Glu1282Val) c.3713A>T (p.Glu1238Val) c.3581A>T (p.Glu1194Val) | |
20 | g.32436447A>C | CA408563696 | ASXL1 | c.3735A>C (p.Glu1245Asp) c.3552A>C (p.Glu1184Asp) n.6088A>C c.1869+1866A>C (n.1869+1866A>C) c.3720A>C (p.Glu1240Asp) c.3732A>C (p.Glu1244Asp) c.3705A>C (p.Glu1235Asp) c.3651A>C (p.Glu1217Asp) c.3051A>C (p.Glu1017Asp) c.3999A>C (p.Glu1333Asp) c.3996A>C (p.Glu1332Asp) c.3915A>C (p.Glu1305Asp) c.3846A>C (p.Glu1282Asp) c.3714A>C (p.Glu1238Asp) c.3582A>C (p.Glu1194Asp) | gnomAD v4 |
20 | g.32436447A>G | CA510467607 | ASXL1 | c.3735A>G (p.Glu1245=) c.3552A>G (p.Glu1184=) n.6088A>G c.1869+1866A>G (n.1869+1866A>G) c.3720A>G (p.Glu1240=) c.3732A>G (p.Glu1244=) c.3705A>G (p.Glu1235=) c.3651A>G (p.Glu1217=) c.3051A>G (p.Glu1017=) c.3999A>G (p.Glu1333=) c.3996A>G (p.Glu1332=) c.3915A>G (p.Glu1305=) c.3846A>G (p.Glu1282=) c.3714A>G (p.Glu1238=) c.3582A>G (p.Glu1194=) | gnomAD v4 |
20 | g.32436447A>T | CA408563695 | ASXL1 | c.3735A>T (p.Glu1245Asp) c.3552A>T (p.Glu1184Asp) n.6088A>T c.1869+1866A>T (n.1869+1866A>T) c.3720A>T (p.Glu1240Asp) c.3732A>T (p.Glu1244Asp) c.3705A>T (p.Glu1235Asp) c.3651A>T (p.Glu1217Asp) c.3051A>T (p.Glu1017Asp) c.3999A>T (p.Glu1333Asp) c.3996A>T (p.Glu1332Asp) c.3915A>T (p.Glu1305Asp) c.3846A>T (p.Glu1282Asp) c.3714A>T (p.Glu1238Asp) c.3582A>T (p.Glu1194Asp) | |
20 | g.32436448G>A | CA408563697 | ASXL1 | c.3736G>A (p.Val1246Ile) c.3553G>A (p.Val1185Ile) n.6089G>A c.1869+1867G>A (n.1869+1867G>A) c.3721G>A (p.Val1241Ile) c.3733G>A (p.Val1245Ile) c.3706G>A (p.Val1236Ile) c.3652G>A (p.Val1218Ile) c.3052G>A (p.Val1018Ile) c.4000G>A (p.Val1334Ile) c.3997G>A (p.Val1333Ile) c.3916G>A (p.Val1306Ile) c.3847G>A (p.Val1283Ile) c.3715G>A (p.Val1239Ile) c.3583G>A (p.Val1195Ile) | |
20 | g.32436448G>C | CA408563698 | ASXL1 | c.3736G>C (p.Val1246Leu) c.3553G>C (p.Val1185Leu) n.6089G>C c.1869+1867G>C (n.1869+1867G>C) c.3721G>C (p.Val1241Leu) c.3733G>C (p.Val1245Leu) c.3706G>C (p.Val1236Leu) c.3652G>C (p.Val1218Leu) c.3052G>C (p.Val1018Leu) c.4000G>C (p.Val1334Leu) c.3997G>C (p.Val1333Leu) c.3916G>C (p.Val1306Leu) c.3847G>C (p.Val1283Leu) c.3715G>C (p.Val1239Leu) c.3583G>C (p.Val1195Leu) | |
20 | g.32436448G>T | CA408563699 | ASXL1 | c.3736G>T (p.Val1246Phe) c.3553G>T (p.Val1185Phe) n.6089G>T c.1869+1867G>T (n.1869+1867G>T) c.3721G>T (p.Val1241Phe) c.3733G>T (p.Val1245Phe) c.3706G>T (p.Val1236Phe) c.3652G>T (p.Val1218Phe) c.3052G>T (p.Val1018Phe) c.4000G>T (p.Val1334Phe) c.3997G>T (p.Val1333Phe) c.3916G>T (p.Val1306Phe) c.3847G>T (p.Val1283Phe) c.3715G>T (p.Val1239Phe) c.3583G>T (p.Val1195Phe) | |
20 | g.32436449T>A | CA408563700 | ASXL1 | c.3737T>A (p.Val1246Asp) c.3554T>A (p.Val1185Asp) n.6090T>A c.1869+1868T>A (n.1869+1868T>A) c.3722T>A (p.Val1241Asp) c.3734T>A (p.Val1245Asp) c.3707T>A (p.Val1236Asp) c.3653T>A (p.Val1218Asp) c.3053T>A (p.Val1018Asp) c.4001T>A (p.Val1334Asp) c.3998T>A (p.Val1333Asp) c.3917T>A (p.Val1306Asp) c.3848T>A (p.Val1283Asp) c.3716T>A (p.Val1239Asp) c.3584T>A (p.Val1195Asp) | COSMIC |
20 | g.32436449T>C | CA408563701 | ASXL1 | c.3737T>C (p.Val1246Ala) c.3554T>C (p.Val1185Ala) n.6090T>C c.1869+1868T>C (n.1869+1868T>C) c.3722T>C (p.Val1241Ala) c.3734T>C (p.Val1245Ala) c.3707T>C (p.Val1236Ala) c.3653T>C (p.Val1218Ala) c.3053T>C (p.Val1018Ala) c.4001T>C (p.Val1334Ala) c.3998T>C (p.Val1333Ala) c.3917T>C (p.Val1306Ala) c.3848T>C (p.Val1283Ala) c.3716T>C (p.Val1239Ala) c.3584T>C (p.Val1195Ala) | |
20 | g.32436449T>G | CA408563702 | ASXL1 | c.3737T>G (p.Val1246Gly) c.3554T>G (p.Val1185Gly) n.6090T>G c.1869+1868T>G (n.1869+1868T>G) c.3722T>G (p.Val1241Gly) c.3734T>G (p.Val1245Gly) c.3707T>G (p.Val1236Gly) c.3653T>G (p.Val1218Gly) c.3053T>G (p.Val1018Gly) c.4001T>G (p.Val1334Gly) c.3998T>G (p.Val1333Gly) c.3917T>G (p.Val1306Gly) c.3848T>G (p.Val1283Gly) c.3716T>G (p.Val1239Gly) c.3584T>G (p.Val1195Gly) | |
20 | g.32436450C>A | CA510467612 | ASXL1 | c.3738C>A (p.Val1246=) c.3555C>A (p.Val1185=) n.6091C>A c.1869+1869C>A (n.1869+1869C>A) c.3723C>A (p.Val1241=) c.3735C>A (p.Val1245=) c.3708C>A (p.Val1236=) c.3654C>A (p.Val1218=) c.3054C>A (p.Val1018=) c.4002C>A (p.Val1334=) c.3999C>A (p.Val1333=) c.3918C>A (p.Val1306=) c.3849C>A (p.Val1283=) c.3717C>A (p.Val1239=) c.3585C>A (p.Val1195=) | dbSNP |
20 | g.32436450C= | CA2360293704 | ASXL1 | c.3738C= (p.Val1246=) c.3555C= (p.Val1185=) n.6091C= c.1869+1869C= (n.1869+1869C=) c.3723C= (p.Val1241=) c.3735C= (p.Val1245=) c.3708C= (p.Val1236=) c.3654C= (p.Val1218=) c.3054C= (p.Val1018=) c.4002C= (p.Val1334=) c.3999C= (p.Val1333=) c.3918C= (p.Val1306=) c.3849C= (p.Val1283=) c.3717C= (p.Val1239=) c.3585C= (p.Val1195=) | |
20 | g.32436450C>G | CA510467613 | ASXL1 | c.3738C>G (p.Val1246=) c.3555C>G (p.Val1185=) n.6091C>G c.1869+1869C>G (n.1869+1869C>G) c.3723C>G (p.Val1241=) c.3735C>G (p.Val1245=) c.3708C>G (p.Val1236=) c.3654C>G (p.Val1218=) c.3054C>G (p.Val1018=) c.4002C>G (p.Val1334=) c.3999C>G (p.Val1333=) c.3918C>G (p.Val1306=) c.3849C>G (p.Val1283=) c.3717C>G (p.Val1239=) c.3585C>G (p.Val1195=) | dbSNP gnomAD v2 |
20 | g.32436450C>T | CA510467614 | ASXL1 | c.3738C>T (p.Val1246=) c.3555C>T (p.Val1185=) n.6091C>T c.1869+1869C>T (n.1869+1869C>T) c.3723C>T (p.Val1241=) c.3735C>T (p.Val1245=) c.3708C>T (p.Val1236=) c.3654C>T (p.Val1218=) c.3054C>T (p.Val1018=) c.4002C>T (p.Val1334=) c.3999C>T (p.Val1333=) c.3918C>T (p.Val1306=) c.3849C>T (p.Val1283=) c.3717C>T (p.Val1239=) c.3585C>T (p.Val1195=) | COSMIC COSMIC |
20 | g.32436451C>A | CA408563703 | ASXL1 | c.3739C>A (p.Arg1247Ser) c.3556C>A (p.Arg1186Ser) n.6092C>A c.1869+1870C>A (n.1869+1870C>A) c.3724C>A (p.Arg1242Ser) c.3736C>A (p.Arg1246Ser) c.3709C>A (p.Arg1237Ser) c.3655C>A (p.Arg1219Ser) c.3055C>A (p.Arg1019Ser) c.4003C>A (p.Arg1335Ser) c.4000C>A (p.Arg1334Ser) c.3919C>A (p.Arg1307Ser) c.3850C>A (p.Arg1284Ser) c.3718C>A (p.Arg1240Ser) c.3586C>A (p.Arg1196Ser) | dbSNP |
20 | g.32436451C= | CA2360293705 | ASXL1 | c.3739C= (p.Arg1247=) c.3556C= (p.Arg1186=) n.6092C= c.1869+1870C= (n.1869+1870C=) c.3724C= (p.Arg1242=) c.3736C= (p.Arg1246=) c.3709C= (p.Arg1237=) c.3655C= (p.Arg1219=) c.3055C= (p.Arg1019=) c.4003C= (p.Arg1335=) c.4000C= (p.Arg1334=) c.3919C= (p.Arg1307=) c.3850C= (p.Arg1284=) c.3718C= (p.Arg1240=) c.3586C= (p.Arg1196=) | |
20 | g.32436451C>G | CA408563704 | ASXL1 | c.3739C>G (p.Arg1247Gly) c.3556C>G (p.Arg1186Gly) n.6092C>G c.1869+1870C>G (n.1869+1870C>G) c.3724C>G (p.Arg1242Gly) c.3736C>G (p.Arg1246Gly) c.3709C>G (p.Arg1237Gly) c.3655C>G (p.Arg1219Gly) c.3055C>G (p.Arg1019Gly) c.4003C>G (p.Arg1335Gly) c.4000C>G (p.Arg1334Gly) c.3919C>G (p.Arg1307Gly) c.3850C>G (p.Arg1284Gly) c.3718C>G (p.Arg1240Gly) c.3586C>G (p.Arg1196Gly) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436451C>T | CA9808888 | ASXL1 | c.3739C>T (p.Arg1247Cys) c.3556C>T (p.Arg1186Cys) n.6092C>T c.1869+1870C>T (n.1869+1870C>T) c.3724C>T (p.Arg1242Cys) c.3736C>T (p.Arg1246Cys) c.3709C>T (p.Arg1237Cys) c.3655C>T (p.Arg1219Cys) c.3055C>T (p.Arg1019Cys) c.4003C>T (p.Arg1335Cys) c.4000C>T (p.Arg1334Cys) c.3919C>T (p.Arg1307Cys) c.3850C>T (p.Arg1284Cys) c.3718C>T (p.Arg1240Cys) c.3586C>T (p.Arg1196Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.32436452G>A | CA9808889 | ASXL1 | c.3740G>A (p.Arg1247His) c.3557G>A (p.Arg1186His) n.6093G>A c.1869+1871G>A (n.1869+1871G>A) c.3725G>A (p.Arg1242His) c.3737G>A (p.Arg1246His) c.3710G>A (p.Arg1237His) c.3656G>A (p.Arg1219His) c.3056G>A (p.Arg1019His) c.4004G>A (p.Arg1335His) c.4001G>A (p.Arg1334His) c.3920G>A (p.Arg1307His) c.3851G>A (p.Arg1284His) c.3719G>A (p.Arg1240His) c.3587G>A (p.Arg1196His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.32436452G>C | CA408563705 | ASXL1 | c.3740G>C (p.Arg1247Pro) c.3557G>C (p.Arg1186Pro) n.6093G>C c.1869+1871G>C (n.1869+1871G>C) c.3725G>C (p.Arg1242Pro) c.3737G>C (p.Arg1246Pro) c.3710G>C (p.Arg1237Pro) c.3656G>C (p.Arg1219Pro) c.3056G>C (p.Arg1019Pro) c.4004G>C (p.Arg1335Pro) c.4001G>C (p.Arg1334Pro) c.3920G>C (p.Arg1307Pro) c.3851G>C (p.Arg1284Pro) c.3719G>C (p.Arg1240Pro) c.3587G>C (p.Arg1196Pro) | |
20 | g.32436452G= | CA2360293706 | ASXL1 | c.3740G= (p.Arg1247=) c.3557G= (p.Arg1186=) n.6093G= c.1869+1871G= (n.1869+1871G=) c.3725G= (p.Arg1242=) c.3737G= (p.Arg1246=) c.3710G= (p.Arg1237=) c.3656G= (p.Arg1219=) c.3056G= (p.Arg1019=) c.4004G= (p.Arg1335=) c.4001G= (p.Arg1334=) c.3920G= (p.Arg1307=) c.3851G= (p.Arg1284=) c.3719G= (p.Arg1240=) c.3587G= (p.Arg1196=) | |
20 | g.32436452G>T | CA408563706 | ASXL1 | c.3740G>T (p.Arg1247Leu) c.3557G>T (p.Arg1186Leu) n.6093G>T c.1869+1871G>T (n.1869+1871G>T) c.3725G>T (p.Arg1242Leu) c.3737G>T (p.Arg1246Leu) c.3710G>T (p.Arg1237Leu) c.3656G>T (p.Arg1219Leu) c.3056G>T (p.Arg1019Leu) c.4004G>T (p.Arg1335Leu) c.4001G>T (p.Arg1334Leu) c.3920G>T (p.Arg1307Leu) c.3851G>T (p.Arg1284Leu) c.3719G>T (p.Arg1240Leu) c.3587G>T (p.Arg1196Leu) | dbSNP |
20 | g.32436452dup | CA2652401239 | ASXL1 | c.3740dup (p.Ala1248CysfsTer7) c.3557dup (p.Ala1187CysfsTer7) n.6093dup c.1869+1871dup (n.1869+1871dup) c.3725dup (p.Ala1243CysfsTer7) c.3737dup (p.Ala1247CysfsTer7) c.3710dup (p.Ala1238CysfsTer7) c.3656dup (p.Ala1220CysfsTer7) c.3056dup (p.Ala1020CysfsTer7) c.4004dup (p.Ala1336CysfsTer7) c.4001dup (p.Ala1335CysfsTer7) c.3920dup (p.Ala1308CysfsTer7) c.3851dup (p.Ala1285CysfsTer7) c.3719dup (p.Ala1241CysfsTer7) c.3587dup (p.Ala1197CysfsTer7) | gnomAD v4 |
20 | g.32436453T>A | CA510467619 | ASXL1 | c.3741T>A (p.Arg1247=) c.3558T>A (p.Arg1186=) n.6094T>A c.1869+1872T>A (n.1869+1872T>A) c.3726T>A (p.Arg1242=) c.3738T>A (p.Arg1246=) c.3711T>A (p.Arg1237=) c.3657T>A (p.Arg1219=) c.3057T>A (p.Arg1019=) c.4005T>A (p.Arg1335=) c.4002T>A (p.Arg1334=) c.3921T>A (p.Arg1307=) c.3852T>A (p.Arg1284=) c.3720T>A (p.Arg1240=) c.3588T>A (p.Arg1196=) | |
20 | g.32436453T>C | CA510467620 | ASXL1 | c.3741T>C (p.Arg1247=) c.3558T>C (p.Arg1186=) n.6094T>C c.1869+1872T>C (n.1869+1872T>C) c.3726T>C (p.Arg1242=) c.3738T>C (p.Arg1246=) c.3711T>C (p.Arg1237=) c.3657T>C (p.Arg1219=) c.3057T>C (p.Arg1019=) c.4005T>C (p.Arg1335=) c.4002T>C (p.Arg1334=) c.3921T>C (p.Arg1307=) c.3852T>C (p.Arg1284=) c.3720T>C (p.Arg1240=) c.3588T>C (p.Arg1196=) | |
20 | g.32436453T>G | CA510467621 | ASXL1 | c.3741T>G (p.Arg1247=) c.3558T>G (p.Arg1186=) n.6094T>G c.1869+1872T>G (n.1869+1872T>G) c.3726T>G (p.Arg1242=) c.3738T>G (p.Arg1246=) c.3711T>G (p.Arg1237=) c.3657T>G (p.Arg1219=) c.3057T>G (p.Arg1019=) c.4005T>G (p.Arg1335=) c.4002T>G (p.Arg1334=) c.3921T>G (p.Arg1307=) c.3852T>G (p.Arg1284=) c.3720T>G (p.Arg1240=) c.3588T>G (p.Arg1196=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436453T= | CA2360293707 | ASXL1 | c.3741T= (p.Arg1247=) c.3558T= (p.Arg1186=) n.6094T= c.1869+1872T= (n.1869+1872T=) c.3726T= (p.Arg1242=) c.3738T= (p.Arg1246=) c.3711T= (p.Arg1237=) c.3657T= (p.Arg1219=) c.3057T= (p.Arg1019=) c.4005T= (p.Arg1335=) c.4002T= (p.Arg1334=) c.3921T= (p.Arg1307=) c.3852T= (p.Arg1284=) c.3720T= (p.Arg1240=) c.3588T= (p.Arg1196=) | |
20 | g.32436454G>A | CA408563708 | ASXL1 | c.3742G>A (p.Ala1248Thr) c.3559G>A (p.Ala1187Thr) n.6095G>A c.1869+1873G>A (n.1869+1873G>A) c.3727G>A (p.Ala1243Thr) c.3739G>A (p.Ala1247Thr) c.3712G>A (p.Ala1238Thr) c.3658G>A (p.Ala1220Thr) c.3058G>A (p.Ala1020Thr) c.4006G>A (p.Ala1336Thr) c.4003G>A (p.Ala1335Thr) c.3922G>A (p.Ala1308Thr) c.3853G>A (p.Ala1285Thr) c.3721G>A (p.Ala1241Thr) c.3589G>A (p.Ala1197Thr) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436454G>C | CA408563709 | ASXL1 | c.3742G>C (p.Ala1248Pro) c.3559G>C (p.Ala1187Pro) n.6095G>C c.1869+1873G>C (n.1869+1873G>C) c.3727G>C (p.Ala1243Pro) c.3739G>C (p.Ala1247Pro) c.3712G>C (p.Ala1238Pro) c.3658G>C (p.Ala1220Pro) c.3058G>C (p.Ala1020Pro) c.4006G>C (p.Ala1336Pro) c.4003G>C (p.Ala1335Pro) c.3922G>C (p.Ala1308Pro) c.3853G>C (p.Ala1285Pro) c.3721G>C (p.Ala1241Pro) c.3589G>C (p.Ala1197Pro) | |
20 | g.32436454G= | CA2360293708 | ASXL1 | c.3742G= (p.Ala1248=) c.3559G= (p.Ala1187=) n.6095G= c.1869+1873G= (n.1869+1873G=) c.3727G= (p.Ala1243=) c.3739G= (p.Ala1247=) c.3712G= (p.Ala1238=) c.3658G= (p.Ala1220=) c.3058G= (p.Ala1020=) c.4006G= (p.Ala1336=) c.4003G= (p.Ala1335=) c.3922G= (p.Ala1308=) c.3853G= (p.Ala1285=) c.3721G= (p.Ala1241=) c.3589G= (p.Ala1197=) | |
20 | g.32436454G>T | CA408563707 | ASXL1 | c.3742G>T (p.Ala1248Ser) c.3559G>T (p.Ala1187Ser) n.6095G>T c.1869+1873G>T (n.1869+1873G>T) c.3727G>T (p.Ala1243Ser) c.3739G>T (p.Ala1247Ser) c.3712G>T (p.Ala1238Ser) c.3658G>T (p.Ala1220Ser) c.3058G>T (p.Ala1020Ser) c.4006G>T (p.Ala1336Ser) c.4003G>T (p.Ala1335Ser) c.3922G>T (p.Ala1308Ser) c.3853G>T (p.Ala1285Ser) c.3721G>T (p.Ala1241Ser) c.3589G>T (p.Ala1197Ser) | |
20 | g.32436455C>A | CA408563710 | ASXL1 | c.3743C>A (p.Ala1248Asp) c.3560C>A (p.Ala1187Asp) n.6096C>A c.1869+1874C>A (n.1869+1874C>A) c.3728C>A (p.Ala1243Asp) c.3740C>A (p.Ala1247Asp) c.3713C>A (p.Ala1238Asp) c.3659C>A (p.Ala1220Asp) c.3059C>A (p.Ala1020Asp) c.4007C>A (p.Ala1336Asp) c.4004C>A (p.Ala1335Asp) c.3923C>A (p.Ala1308Asp) c.3854C>A (p.Ala1285Asp) c.3722C>A (p.Ala1241Asp) c.3590C>A (p.Ala1197Asp) | dbSNP |
20 | g.32436455C>G | CA408563711 | ASXL1 | c.3743C>G (p.Ala1248Gly) c.3560C>G (p.Ala1187Gly) n.6096C>G c.1869+1874C>G (n.1869+1874C>G) c.3728C>G (p.Ala1243Gly) c.3740C>G (p.Ala1247Gly) c.3713C>G (p.Ala1238Gly) c.3659C>G (p.Ala1220Gly) c.3059C>G (p.Ala1020Gly) c.4007C>G (p.Ala1336Gly) c.4004C>G (p.Ala1335Gly) c.3923C>G (p.Ala1308Gly) c.3854C>G (p.Ala1285Gly) c.3722C>G (p.Ala1241Gly) c.3590C>G (p.Ala1197Gly) | |
20 | g.32436455C>T | CA408563712 | ASXL1 | c.3743C>T (p.Ala1248Val) c.3560C>T (p.Ala1187Val) n.6096C>T c.1869+1874C>T (n.1869+1874C>T) c.3728C>T (p.Ala1243Val) c.3740C>T (p.Ala1247Val) c.3713C>T (p.Ala1238Val) c.3659C>T (p.Ala1220Val) c.3059C>T (p.Ala1020Val) c.4007C>T (p.Ala1336Val) c.4004C>T (p.Ala1335Val) c.3923C>T (p.Ala1308Val) c.3854C>T (p.Ala1285Val) c.3722C>T (p.Ala1241Val) c.3590C>T (p.Ala1197Val) | dbSNP gnomAD v4 COSMIC |
20 | g.32436455_32436458del | CA2538161313 | ASXL1 | c.3743_3746del (p.Ala1248GlyfsTer?) c.3560_3563del (p.Ala1187GlyfsTer?) n.6096_6099del c.1869+1874_1869+1877del (n.1869+1874_1869+1877del) c.3728_3731del (p.Ala1243GlyfsTer?) c.3740_3743del (p.Ala1247GlyfsTer?) c.3713_3716del (p.Ala1238GlyfsTer?) c.3659_3662del (p.Ala1220GlyfsTer?) c.3059_3062del (p.Ala1020GlyfsTer?) c.4007_4010del (p.Ala1336GlyfsTer?) c.4004_4007del (p.Ala1335GlyfsTer?) c.3923_3926del (p.Ala1308GlyfsTer?) c.3854_3857del (p.Ala1285GlyfsTer?) c.3722_3725del (p.Ala1241GlyfsTer?) c.3590_3593del (p.Ala1197GlyfsTer?) | |
20 | g.32436456T>A | CA510467625 | ASXL1 | c.3744T>A (p.Ala1248=) c.3561T>A (p.Ala1187=) n.6097T>A c.1869+1875T>A (n.1869+1875T>A) c.3729T>A (p.Ala1243=) c.3741T>A (p.Ala1247=) c.3714T>A (p.Ala1238=) c.3660T>A (p.Ala1220=) c.3060T>A (p.Ala1020=) c.4008T>A (p.Ala1336=) c.4005T>A (p.Ala1335=) c.3924T>A (p.Ala1308=) c.3855T>A (p.Ala1285=) c.3723T>A (p.Ala1241=) c.3591T>A (p.Ala1197=) | |
20 | g.32436456T>C | CA313926358 | ASXL1 | c.3744T>C (p.Ala1248=) c.3561T>C (p.Ala1187=) n.6097T>C c.1869+1875T>C (n.1869+1875T>C) c.3729T>C (p.Ala1243=) c.3741T>C (p.Ala1247=) c.3714T>C (p.Ala1238=) c.3660T>C (p.Ala1220=) c.3060T>C (p.Ala1020=) c.4008T>C (p.Ala1336=) c.4005T>C (p.Ala1335=) c.3924T>C (p.Ala1308=) c.3855T>C (p.Ala1285=) c.3723T>C (p.Ala1241=) c.3591T>C (p.Ala1197=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436456T>G | CA510467627 | ASXL1 | c.3744T>G (p.Ala1248=) c.3561T>G (p.Ala1187=) n.6097T>G c.1869+1875T>G (n.1869+1875T>G) c.3729T>G (p.Ala1243=) c.3741T>G (p.Ala1247=) c.3714T>G (p.Ala1238=) c.3660T>G (p.Ala1220=) c.3060T>G (p.Ala1020=) c.4008T>G (p.Ala1336=) c.4005T>G (p.Ala1335=) c.3924T>G (p.Ala1308=) c.3855T>G (p.Ala1285=) c.3723T>G (p.Ala1241=) c.3591T>G (p.Ala1197=) | |
20 | g.32436456T= | CA2360293709 | ASXL1 | c.3744T= (p.Ala1248=) c.3561T= (p.Ala1187=) n.6097T= c.1869+1875T= (n.1869+1875T=) c.3729T= (p.Ala1243=) c.3741T= (p.Ala1247=) c.3714T= (p.Ala1238=) c.3660T= (p.Ala1220=) c.3060T= (p.Ala1020=) c.4008T= (p.Ala1336=) c.4005T= (p.Ala1335=) c.3924T= (p.Ala1308=) c.3855T= (p.Ala1285=) c.3723T= (p.Ala1241=) c.3591T= (p.Ala1197=) | |
20 | g.32436457A= | CA2360293710 | ASXL1 | c.3745A= (p.Met1249=) c.3562A= (p.Met1188=) n.6098A= c.1869+1876A= (n.1869+1876A=) c.3730A= (p.Met1244=) c.3742A= (p.Met1248=) c.3715A= (p.Met1239=) c.3661A= (p.Met1221=) c.3061A= (p.Met1021=) c.4009A= (p.Met1337=) c.4006A= (p.Met1336=) c.3925A= (p.Met1309=) c.3856A= (p.Met1286=) c.3724A= (p.Met1242=) c.3592A= (p.Met1198=) | |
20 | g.32436457A>C | CA408563713 | ASXL1 | c.3745A>C (p.Met1249Leu) c.3562A>C (p.Met1188Leu) n.6098A>C c.1869+1876A>C (n.1869+1876A>C) c.3730A>C (p.Met1244Leu) c.3742A>C (p.Met1248Leu) c.3715A>C (p.Met1239Leu) c.3661A>C (p.Met1221Leu) c.3061A>C (p.Met1021Leu) c.4009A>C (p.Met1337Leu) c.4006A>C (p.Met1336Leu) c.3925A>C (p.Met1309Leu) c.3856A>C (p.Met1286Leu) c.3724A>C (p.Met1242Leu) c.3592A>C (p.Met1198Leu) | ClinVar |
20 | g.32436457A>G | CA156993 | ASXL1 | c.3745A>G (p.Met1249Val) c.3562A>G (p.Met1188Val) n.6098A>G c.1869+1876A>G (n.1869+1876A>G) c.3730A>G (p.Met1244Val) c.3742A>G (p.Met1248Val) c.3715A>G (p.Met1239Val) c.3661A>G (p.Met1221Val) c.3061A>G (p.Met1021Val) c.4009A>G (p.Met1337Val) c.4006A>G (p.Met1336Val) c.3925A>G (p.Met1309Val) c.3856A>G (p.Met1286Val) c.3724A>G (p.Met1242Val) c.3592A>G (p.Met1198Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436457A>T | CA408563714 | ASXL1 | c.3745A>T (p.Met1249Leu) c.3562A>T (p.Met1188Leu) n.6098A>T c.1869+1876A>T (n.1869+1876A>T) c.3730A>T (p.Met1244Leu) c.3742A>T (p.Met1248Leu) c.3715A>T (p.Met1239Leu) c.3661A>T (p.Met1221Leu) c.3061A>T (p.Met1021Leu) c.4009A>T (p.Met1337Leu) c.4006A>T (p.Met1336Leu) c.3925A>T (p.Met1309Leu) c.3856A>T (p.Met1286Leu) c.3724A>T (p.Met1242Leu) c.3592A>T (p.Met1198Leu) | gnomAD v4 |
20 | g.32436457_32436471delinsGTGTCACAGGACAGC | CA2580612057 | ASXL1 | c.3745_3759delinsGTGTCACAGGACAGC (p.Met1249Val) c.3562_3576delinsGTGTCACAGGACAGC (p.Met1188Val) n.6098_6112delinsGTGTCACAGGACAGC c.1869+1876_1869+1890delinsGTGTCACAGGACAGC (n.1869+1876_1869+1890delinsGTGTCACAGGACAGC) c.3730_3744delinsGTGTCACAGGACAGC (p.Met1244Val) c.3742_3756delinsGTGTCACAGGACAGC (p.Met1248Val) c.3715_3729delinsGTGTCACAGGACAGC (p.Met1239Val) c.3661_3675delinsGTGTCACAGGACAGC (p.Met1221Val) c.3061_3075delinsGTGTCACAGGACAGC (p.Met1021Val) c.4009_4023delinsGTGTCACAGGACAGC (p.Met1337Val) c.4006_4020delinsGTGTCACAGGACAGC (p.Met1336Val) c.3925_3939delinsGTGTCACAGGACAGC (p.Met1309Val) c.3856_3870delinsGTGTCACAGGACAGC (p.Met1286Val) c.3724_3738delinsGTGTCACAGGACAGC (p.Met1242Val) c.3592_3606delinsGTGTCACAGGACAGC (p.Met1198Val) | |
20 | g.32436458T>A | CA408563715 | ASXL1 | c.3746T>A (p.Met1249Lys) c.3563T>A (p.Met1188Lys) n.6099T>A c.1869+1877T>A (n.1869+1877T>A) c.3731T>A (p.Met1244Lys) c.3743T>A (p.Met1248Lys) c.3716T>A (p.Met1239Lys) c.3662T>A (p.Met1221Lys) c.3062T>A (p.Met1021Lys) c.4010T>A (p.Met1337Lys) c.4007T>A (p.Met1336Lys) c.3926T>A (p.Met1309Lys) c.3857T>A (p.Met1286Lys) c.3725T>A (p.Met1242Lys) c.3593T>A (p.Met1198Lys) | |
20 | g.32436458T>C | CA9808890 | ASXL1 | c.3746T>C (p.Met1249Thr) c.3563T>C (p.Met1188Thr) n.6099T>C c.1869+1877T>C (n.1869+1877T>C) c.3731T>C (p.Met1244Thr) c.3743T>C (p.Met1248Thr) c.3716T>C (p.Met1239Thr) c.3662T>C (p.Met1221Thr) c.3062T>C (p.Met1021Thr) c.4010T>C (p.Met1337Thr) c.4007T>C (p.Met1336Thr) c.3926T>C (p.Met1309Thr) c.3857T>C (p.Met1286Thr) c.3725T>C (p.Met1242Thr) c.3593T>C (p.Met1198Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436458T>G | CA408563716 | ASXL1 | c.3746T>G (p.Met1249Arg) c.3563T>G (p.Met1188Arg) n.6099T>G c.1869+1877T>G (n.1869+1877T>G) c.3731T>G (p.Met1244Arg) c.3743T>G (p.Met1248Arg) c.3716T>G (p.Met1239Arg) c.3662T>G (p.Met1221Arg) c.3062T>G (p.Met1021Arg) c.4010T>G (p.Met1337Arg) c.4007T>G (p.Met1336Arg) c.3926T>G (p.Met1309Arg) c.3857T>G (p.Met1286Arg) c.3725T>G (p.Met1242Arg) c.3593T>G (p.Met1198Arg) | |
20 | g.32436458T= | CA2360293711 | ASXL1 | c.3746T= (p.Met1249=) c.3563T= (p.Met1188=) n.6099T= c.1869+1877T= (n.1869+1877T=) c.3731T= (p.Met1244=) c.3743T= (p.Met1248=) c.3716T= (p.Met1239=) c.3662T= (p.Met1221=) c.3062T= (p.Met1021=) c.4010T= (p.Met1337=) c.4007T= (p.Met1336=) c.3926T= (p.Met1309=) c.3857T= (p.Met1286=) c.3725T= (p.Met1242=) c.3593T= (p.Met1198=) | |
20 | g.32436459_32436460del | CA2740097058 | ASXL1 | c.3747_3748del (p.Met1249IlefsTer5) c.3564_3565del (p.Met1188IlefsTer5) n.6100_6101del c.1869+1878_1869+1879del (n.1869+1878_1869+1879del) c.3732_3733del (p.Met1244IlefsTer5) c.3744_3745del (p.Met1248IlefsTer5) c.3717_3718del (p.Met1239IlefsTer5) c.3663_3664del (p.Met1221IlefsTer5) c.3063_3064del (p.Met1021IlefsTer5) c.4011_4012del (p.Met1337IlefsTer5) c.4008_4009del (p.Met1336IlefsTer5) c.3927_3928del (p.Met1309IlefsTer5) c.3858_3859del (p.Met1286IlefsTer5) c.3726_3727del (p.Met1242IlefsTer5) c.3594_3595del (p.Met1198IlefsTer5) | ClinVar |
20 | g.32436459G>A | CA408563717 | ASXL1 | c.3747G>A (p.Met1249Ile) c.3564G>A (p.Met1188Ile) n.6100G>A c.1869+1878G>A (n.1869+1878G>A) c.3732G>A (p.Met1244Ile) c.3744G>A (p.Met1248Ile) c.3717G>A (p.Met1239Ile) c.3663G>A (p.Met1221Ile) c.3063G>A (p.Met1021Ile) c.4011G>A (p.Met1337Ile) c.4008G>A (p.Met1336Ile) c.3927G>A (p.Met1309Ile) c.3858G>A (p.Met1286Ile) c.3726G>A (p.Met1242Ile) c.3594G>A (p.Met1198Ile) | dbSNP |
20 | g.32436459G>C | CA408563718 | ASXL1 | c.3747G>C (p.Met1249Ile) c.3564G>C (p.Met1188Ile) n.6100G>C c.1869+1878G>C (n.1869+1878G>C) c.3732G>C (p.Met1244Ile) c.3744G>C (p.Met1248Ile) c.3717G>C (p.Met1239Ile) c.3663G>C (p.Met1221Ile) c.3063G>C (p.Met1021Ile) c.4011G>C (p.Met1337Ile) c.4008G>C (p.Met1336Ile) c.3927G>C (p.Met1309Ile) c.3858G>C (p.Met1286Ile) c.3726G>C (p.Met1242Ile) c.3594G>C (p.Met1198Ile) | dbSNP |
20 | g.32436459G>T | CA408563719 | ASXL1 | c.3747G>T (p.Met1249Ile) c.3564G>T (p.Met1188Ile) n.6100G>T c.1869+1878G>T (n.1869+1878G>T) c.3732G>T (p.Met1244Ile) c.3744G>T (p.Met1248Ile) c.3717G>T (p.Met1239Ile) c.3663G>T (p.Met1221Ile) c.3063G>T (p.Met1021Ile) c.4011G>T (p.Met1337Ile) c.4008G>T (p.Met1336Ile) c.3927G>T (p.Met1309Ile) c.3858G>T (p.Met1286Ile) c.3726G>T (p.Met1242Ile) c.3594G>T (p.Met1198Ile) | |
20 | g.32436460T>A | CA408563721 | ASXL1 | c.3748T>A (p.Ser1250Thr) c.3565T>A (p.Ser1189Thr) n.6101T>A c.1869+1879T>A (n.1869+1879T>A) c.3733T>A (p.Ser1245Thr) c.3745T>A (p.Ser1249Thr) c.3718T>A (p.Ser1240Thr) c.3664T>A (p.Ser1222Thr) c.3064T>A (p.Ser1022Thr) c.4012T>A (p.Ser1338Thr) c.4009T>A (p.Ser1337Thr) c.3928T>A (p.Ser1310Thr) c.3859T>A (p.Ser1287Thr) c.3727T>A (p.Ser1243Thr) c.3595T>A (p.Ser1199Thr) | |
20 | g.32436460T>C | CA313926359 | ASXL1 | c.3748T>C (p.Ser1250Pro) c.3565T>C (p.Ser1189Pro) n.6101T>C c.1869+1879T>C (n.1869+1879T>C) c.3733T>C (p.Ser1245Pro) c.3745T>C (p.Ser1249Pro) c.3718T>C (p.Ser1240Pro) c.3664T>C (p.Ser1222Pro) c.3064T>C (p.Ser1022Pro) c.4012T>C (p.Ser1338Pro) c.4009T>C (p.Ser1337Pro) c.3928T>C (p.Ser1310Pro) c.3859T>C (p.Ser1287Pro) c.3727T>C (p.Ser1243Pro) c.3595T>C (p.Ser1199Pro) | ClinVar dbSNP gnomAD v4 COSMIC |
20 | g.32436460T>G | CA408563720 | ASXL1 | c.3748T>G (p.Ser1250Ala) c.3565T>G (p.Ser1189Ala) n.6101T>G c.1869+1879T>G (n.1869+1879T>G) c.3733T>G (p.Ser1245Ala) c.3745T>G (p.Ser1249Ala) c.3718T>G (p.Ser1240Ala) c.3664T>G (p.Ser1222Ala) c.3064T>G (p.Ser1022Ala) c.4012T>G (p.Ser1338Ala) c.4009T>G (p.Ser1337Ala) c.3928T>G (p.Ser1310Ala) c.3859T>G (p.Ser1287Ala) c.3727T>G (p.Ser1243Ala) c.3595T>G (p.Ser1199Ala) | |
20 | g.32436460T= | CA2360293712 | ASXL1 | c.3748T= (p.Ser1250=) c.3565T= (p.Ser1189=) n.6101T= c.1869+1879T= (n.1869+1879T=) c.3733T= (p.Ser1245=) c.3745T= (p.Ser1249=) c.3718T= (p.Ser1240=) c.3664T= (p.Ser1222=) c.3064T= (p.Ser1022=) c.4012T= (p.Ser1338=) c.4009T= (p.Ser1337=) c.3928T= (p.Ser1310=) c.3859T= (p.Ser1287=) c.3727T= (p.Ser1243=) c.3595T= (p.Ser1199=) | |
20 | g.32436461C>A | CA408563722 | ASXL1 | c.3749C>A (p.Ser1250Ter) c.3566C>A (p.Ser1189Ter) n.6102C>A c.1869+1880C>A (n.1869+1880C>A) c.3734C>A (p.Ser1245Ter) c.3746C>A (p.Ser1249Ter) c.3719C>A (p.Ser1240Ter) c.3665C>A (p.Ser1222Ter) c.3065C>A (p.Ser1022Ter) c.4013C>A (p.Ser1338Ter) c.4010C>A (p.Ser1337Ter) c.3929C>A (p.Ser1310Ter) c.3860C>A (p.Ser1287Ter) c.3728C>A (p.Ser1243Ter) c.3596C>A (p.Ser1199Ter) | |
20 | g.32436461C>G | CA408563723 | ASXL1 | c.3749C>G (p.Ser1250Ter) c.3566C>G (p.Ser1189Ter) n.6102C>G c.1869+1880C>G (n.1869+1880C>G) c.3734C>G (p.Ser1245Ter) c.3746C>G (p.Ser1249Ter) c.3719C>G (p.Ser1240Ter) c.3665C>G (p.Ser1222Ter) c.3065C>G (p.Ser1022Ter) c.4013C>G (p.Ser1338Ter) c.4010C>G (p.Ser1337Ter) c.3929C>G (p.Ser1310Ter) c.3860C>G (p.Ser1287Ter) c.3728C>G (p.Ser1243Ter) c.3596C>G (p.Ser1199Ter) | |
20 | g.32436461C>T | CA408563724 | ASXL1 | c.3749C>T (p.Ser1250Leu) c.3566C>T (p.Ser1189Leu) n.6102C>T c.1869+1880C>T (n.1869+1880C>T) c.3734C>T (p.Ser1245Leu) c.3746C>T (p.Ser1249Leu) c.3719C>T (p.Ser1240Leu) c.3665C>T (p.Ser1222Leu) c.3065C>T (p.Ser1022Leu) c.4013C>T (p.Ser1338Leu) c.4010C>T (p.Ser1337Leu) c.3929C>T (p.Ser1310Leu) c.3860C>T (p.Ser1287Leu) c.3728C>T (p.Ser1243Leu) c.3596C>T (p.Ser1199Leu) | |
20 | g.32436461_32436466delinsCACAGG | CA2360293713 | ASXL1 | c.3749_3754delinsCACAGG (p.Ser1250=) c.3566_3571delinsCACAGG (p.Ser1189=) n.6102_6107delinsCACAGG c.1869+1880_1869+1885delinsCACAGG (n.1869+1880_1869+1885delinsCACAGG) c.3734_3739delinsCACAGG (p.Ser1245=) c.3746_3751delinsCACAGG (p.Ser1249=) c.3719_3724delinsCACAGG (p.Ser1240=) c.3665_3670delinsCACAGG (p.Ser1222=) c.3065_3070delinsCACAGG (p.Ser1022=) c.4013_4018delinsCACAGG (p.Ser1338=) c.4010_4015delinsCACAGG (p.Ser1337=) c.3929_3934delinsCACAGG (p.Ser1310=) c.3860_3865delinsCACAGG (p.Ser1287=) c.3728_3733delinsCACAGG (p.Ser1243=) c.3596_3601delinsCACAGG (p.Ser1199=) | |
20 | g.32436461_32436462insGCCGTATCATTAA | CA2568910414 | ASXL1 | c.3749_3750insGCCGTATCATTAA (p.Gln1251ProfsTer4) c.3566_3567insGCCGTATCATTAA (p.Gln1190ProfsTer4) n.6102_6103insGCCGTATCATTAA c.1869+1880_1869+1881insGCCGTATCATTAA (n.1869+1880_1869+1881insGCCGTATCATTAA) c.3734_3735insGCCGTATCATTAA (p.Gln1246ProfsTer4) c.3746_3747insGCCGTATCATTAA (p.Gln1250ProfsTer4) c.3719_3720insGCCGTATCATTAA (p.Gln1241ProfsTer4) c.3665_3666insGCCGTATCATTAA (p.Gln1223ProfsTer4) c.3065_3066insGCCGTATCATTAA (p.Gln1023ProfsTer4) c.4013_4014insGCCGTATCATTAA (p.Gln1339ProfsTer4) c.4010_4011insGCCGTATCATTAA (p.Gln1338ProfsTer4) c.3929_3930insGCCGTATCATTAA (p.Gln1311ProfsTer4) c.3860_3861insGCCGTATCATTAA (p.Gln1288ProfsTer4) c.3728_3729insGCCGTATCATTAA (p.Gln1244ProfsTer4) c.3596_3597insGCCGTATCATTAA (p.Gln1200ProfsTer4) | gnomAD v3 gnomAD v4 |
20 | g.32436462A= | CA2360293714 | ASXL1 | c.3750A= (p.Ser1250=) c.3567A= (p.Ser1189=) n.6103A= c.1869+1881A= (n.1869+1881A=) c.3735A= (p.Ser1245=) c.3747A= (p.Ser1249=) c.3720A= (p.Ser1240=) c.3666A= (p.Ser1222=) c.3066A= (p.Ser1022=) c.4014A= (p.Ser1338=) c.4011A= (p.Ser1337=) c.3930A= (p.Ser1310=) c.3861A= (p.Ser1287=) c.3729A= (p.Ser1243=) c.3597A= (p.Ser1199=) | |
20 | g.32436462A>C | CA510467635 | ASXL1 | c.3750A>C (p.Ser1250=) c.3567A>C (p.Ser1189=) n.6103A>C c.1869+1881A>C (n.1869+1881A>C) c.3735A>C (p.Ser1245=) c.3747A>C (p.Ser1249=) c.3720A>C (p.Ser1240=) c.3666A>C (p.Ser1222=) c.3066A>C (p.Ser1022=) c.4014A>C (p.Ser1338=) c.4011A>C (p.Ser1337=) c.3930A>C (p.Ser1310=) c.3861A>C (p.Ser1287=) c.3729A>C (p.Ser1243=) c.3597A>C (p.Ser1199=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436462A>G | CA510467633 | ASXL1 | c.3750A>G (p.Ser1250=) c.3567A>G (p.Ser1189=) n.6103A>G c.1869+1881A>G (n.1869+1881A>G) c.3735A>G (p.Ser1245=) c.3747A>G (p.Ser1249=) c.3720A>G (p.Ser1240=) c.3666A>G (p.Ser1222=) c.3066A>G (p.Ser1022=) c.4014A>G (p.Ser1338=) c.4011A>G (p.Ser1337=) c.3930A>G (p.Ser1310=) c.3861A>G (p.Ser1287=) c.3729A>G (p.Ser1243=) c.3597A>G (p.Ser1199=) | gnomAD v4 |
20 | g.32436462A>T | CA510467634 | ASXL1 | c.3750A>T (p.Ser1250=) c.3567A>T (p.Ser1189=) n.6103A>T c.1869+1881A>T (n.1869+1881A>T) c.3735A>T (p.Ser1245=) c.3747A>T (p.Ser1249=) c.3720A>T (p.Ser1240=) c.3666A>T (p.Ser1222=) c.3066A>T (p.Ser1022=) c.4014A>T (p.Ser1338=) c.4011A>T (p.Ser1337=) c.3930A>T (p.Ser1310=) c.3861A>T (p.Ser1287=) c.3729A>T (p.Ser1243=) c.3597A>T (p.Ser1199=) | |
20 | g.32436466_32436470del | CA658684237 | ASXL1 | c.3754_3758del (p.Asp1252Ter) c.3571_3575del (p.Asp1191Ter) n.6107_6111del c.1869+1885_1869+1889del (n.1869+1885_1869+1889del) c.3739_3743del (p.Asp1247Ter) c.3751_3755del (p.Asp1251Ter) c.3724_3728del (p.Asp1242Ter) c.3670_3674del (p.Asp1224Ter) c.3070_3074del (p.Asp1024Ter) c.4018_4022del (p.Asp1340Ter) c.4015_4019del (p.Asp1339Ter) c.3934_3938del (p.Asp1312Ter) c.3865_3869del (p.Asp1289Ter) c.3733_3737del (p.Asp1245Ter) c.3601_3605del (p.Asp1201Ter) | ClinVar dbSNP |
20 | g.32436463C>A | CA408563725 | ASXL1 | c.3751C>A (p.Gln1251Lys) c.3568C>A (p.Gln1190Lys) n.6104C>A c.1869+1882C>A (n.1869+1882C>A) c.3736C>A (p.Gln1246Lys) c.3748C>A (p.Gln1250Lys) c.3721C>A (p.Gln1241Lys) c.3667C>A (p.Gln1223Lys) c.3067C>A (p.Gln1023Lys) c.4015C>A (p.Gln1339Lys) c.4012C>A (p.Gln1338Lys) c.3931C>A (p.Gln1311Lys) c.3862C>A (p.Gln1288Lys) c.3730C>A (p.Gln1244Lys) c.3598C>A (p.Gln1200Lys) | gnomAD v3 gnomAD v4 |
20 | g.32436463C>G | CA408563726 | ASXL1 | c.3751C>G (p.Gln1251Glu) c.3568C>G (p.Gln1190Glu) n.6104C>G c.1869+1882C>G (n.1869+1882C>G) c.3736C>G (p.Gln1246Glu) c.3748C>G (p.Gln1250Glu) c.3721C>G (p.Gln1241Glu) c.3667C>G (p.Gln1223Glu) c.3067C>G (p.Gln1023Glu) c.4015C>G (p.Gln1339Glu) c.4012C>G (p.Gln1338Glu) c.3931C>G (p.Gln1311Glu) c.3862C>G (p.Gln1288Glu) c.3730C>G (p.Gln1244Glu) c.3598C>G (p.Gln1200Glu) | |
20 | g.32436463C>T | CA408563727 | ASXL1 | c.3751C>T (p.Gln1251Ter) c.3568C>T (p.Gln1190Ter) n.6104C>T c.1869+1882C>T (n.1869+1882C>T) c.3736C>T (p.Gln1246Ter) c.3748C>T (p.Gln1250Ter) c.3721C>T (p.Gln1241Ter) c.3667C>T (p.Gln1223Ter) c.3067C>T (p.Gln1023Ter) c.4015C>T (p.Gln1339Ter) c.4012C>T (p.Gln1338Ter) c.3931C>T (p.Gln1311Ter) c.3862C>T (p.Gln1288Ter) c.3730C>T (p.Gln1244Ter) c.3598C>T (p.Gln1200Ter) | dbSNP COSMIC |
20 | g.32436464A= | CA2360293715 | ASXL1 | c.3752A= (p.Gln1251=) c.3569A= (p.Gln1190=) n.6105A= c.1869+1883A= (n.1869+1883A=) c.3737A= (p.Gln1246=) c.3749A= (p.Gln1250=) c.3722A= (p.Gln1241=) c.3668A= (p.Gln1223=) c.3068A= (p.Gln1023=) c.4016A= (p.Gln1339=) c.4013A= (p.Gln1338=) c.3932A= (p.Gln1311=) c.3863A= (p.Gln1288=) c.3731A= (p.Gln1244=) c.3599A= (p.Gln1200=) | |
20 | g.32436464A>C | CA408563730 | ASXL1 | c.3752A>C (p.Gln1251Pro) c.3569A>C (p.Gln1190Pro) n.6105A>C c.1869+1883A>C (n.1869+1883A>C) c.3737A>C (p.Gln1246Pro) c.3749A>C (p.Gln1250Pro) c.3722A>C (p.Gln1241Pro) c.3668A>C (p.Gln1223Pro) c.3068A>C (p.Gln1023Pro) c.4016A>C (p.Gln1339Pro) c.4013A>C (p.Gln1338Pro) c.3932A>C (p.Gln1311Pro) c.3863A>C (p.Gln1288Pro) c.3731A>C (p.Gln1244Pro) c.3599A>C (p.Gln1200Pro) | |
20 | g.32436464A>G | CA408563728 | ASXL1 | c.3752A>G (p.Gln1251Arg) c.3569A>G (p.Gln1190Arg) n.6105A>G c.1869+1883A>G (n.1869+1883A>G) c.3737A>G (p.Gln1246Arg) c.3749A>G (p.Gln1250Arg) c.3722A>G (p.Gln1241Arg) c.3668A>G (p.Gln1223Arg) c.3068A>G (p.Gln1023Arg) c.4016A>G (p.Gln1339Arg) c.4013A>G (p.Gln1338Arg) c.3932A>G (p.Gln1311Arg) c.3863A>G (p.Gln1288Arg) c.3731A>G (p.Gln1244Arg) c.3599A>G (p.Gln1200Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436464A>T | CA408563729 | ASXL1 | c.3752A>T (p.Gln1251Leu) c.3569A>T (p.Gln1190Leu) n.6105A>T c.1869+1883A>T (n.1869+1883A>T) c.3737A>T (p.Gln1246Leu) c.3749A>T (p.Gln1250Leu) c.3722A>T (p.Gln1241Leu) c.3668A>T (p.Gln1223Leu) c.3068A>T (p.Gln1023Leu) c.4016A>T (p.Gln1339Leu) c.4013A>T (p.Gln1338Leu) c.3932A>T (p.Gln1311Leu) c.3863A>T (p.Gln1288Leu) c.3731A>T (p.Gln1244Leu) c.3599A>T (p.Gln1200Leu) | |
20 | g.32436465G>A | CA510467640 | ASXL1 | c.3753G>A (p.Gln1251=) c.3570G>A (p.Gln1190=) n.6106G>A c.1869+1884G>A (n.1869+1884G>A) c.3738G>A (p.Gln1246=) c.3750G>A (p.Gln1250=) c.3723G>A (p.Gln1241=) c.3669G>A (p.Gln1223=) c.3069G>A (p.Gln1023=) c.4017G>A (p.Gln1339=) c.4014G>A (p.Gln1338=) c.3933G>A (p.Gln1311=) c.3864G>A (p.Gln1288=) c.3732G>A (p.Gln1244=) c.3600G>A (p.Gln1200=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436465G>C | CA408563731 | ASXL1 | c.3753G>C (p.Gln1251His) c.3570G>C (p.Gln1190His) n.6106G>C c.1869+1884G>C (n.1869+1884G>C) c.3738G>C (p.Gln1246His) c.3750G>C (p.Gln1250His) c.3723G>C (p.Gln1241His) c.3669G>C (p.Gln1223His) c.3069G>C (p.Gln1023His) c.4017G>C (p.Gln1339His) c.4014G>C (p.Gln1338His) c.3933G>C (p.Gln1311His) c.3864G>C (p.Gln1288His) c.3732G>C (p.Gln1244His) c.3600G>C (p.Gln1200His) | |
20 | g.32436465G>T | CA408563732 | ASXL1 | c.3753G>T (p.Gln1251His) c.3570G>T (p.Gln1190His) n.6106G>T c.1869+1884G>T (n.1869+1884G>T) c.3738G>T (p.Gln1246His) c.3750G>T (p.Gln1250His) c.3723G>T (p.Gln1241His) c.3669G>T (p.Gln1223His) c.3069G>T (p.Gln1023His) c.4017G>T (p.Gln1339His) c.4014G>T (p.Gln1338His) c.3933G>T (p.Gln1311His) c.3864G>T (p.Gln1288His) c.3732G>T (p.Gln1244His) c.3600G>T (p.Gln1200His) | |
20 | g.32436466G>A | CA9808891 | ASXL1 | c.3754G>A (p.Asp1252Asn) c.3571G>A (p.Asp1191Asn) n.6107G>A c.1869+1885G>A (n.1869+1885G>A) c.3739G>A (p.Asp1247Asn) c.3751G>A (p.Asp1251Asn) c.3724G>A (p.Asp1242Asn) c.3670G>A (p.Asp1224Asn) c.3070G>A (p.Asp1024Asn) c.4018G>A (p.Asp1340Asn) c.4015G>A (p.Asp1339Asn) c.3934G>A (p.Asp1312Asn) c.3865G>A (p.Asp1289Asn) c.3733G>A (p.Asp1245Asn) c.3601G>A (p.Asp1201Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436466G>C | CA408563733 | ASXL1 | c.3754G>C (p.Asp1252His) c.3571G>C (p.Asp1191His) n.6107G>C c.1869+1885G>C (n.1869+1885G>C) c.3739G>C (p.Asp1247His) c.3751G>C (p.Asp1251His) c.3724G>C (p.Asp1242His) c.3670G>C (p.Asp1224His) c.3070G>C (p.Asp1024His) c.4018G>C (p.Asp1340His) c.4015G>C (p.Asp1339His) c.3934G>C (p.Asp1312His) c.3865G>C (p.Asp1289His) c.3733G>C (p.Asp1245His) c.3601G>C (p.Asp1201His) | |
20 | g.32436466G= | CA2360293716 | ASXL1 | c.3754G= (p.Asp1252=) c.3571G= (p.Asp1191=) n.6107G= c.1869+1885G= (n.1869+1885G=) c.3739G= (p.Asp1247=) c.3751G= (p.Asp1251=) c.3724G= (p.Asp1242=) c.3670G= (p.Asp1224=) c.3070G= (p.Asp1024=) c.4018G= (p.Asp1340=) c.4015G= (p.Asp1339=) c.3934G= (p.Asp1312=) c.3865G= (p.Asp1289=) c.3733G= (p.Asp1245=) c.3601G= (p.Asp1201=) | |
20 | g.32436466G>T | CA408563734 | ASXL1 | c.3754G>T (p.Asp1252Tyr) c.3571G>T (p.Asp1191Tyr) n.6107G>T c.1869+1885G>T (n.1869+1885G>T) c.3739G>T (p.Asp1247Tyr) c.3751G>T (p.Asp1251Tyr) c.3724G>T (p.Asp1242Tyr) c.3670G>T (p.Asp1224Tyr) c.3070G>T (p.Asp1024Tyr) c.4018G>T (p.Asp1340Tyr) c.4015G>T (p.Asp1339Tyr) c.3934G>T (p.Asp1312Tyr) c.3865G>T (p.Asp1289Tyr) c.3733G>T (p.Asp1245Tyr) c.3601G>T (p.Asp1201Tyr) | |
20 | g.32436467A= | CA2360293717 | ASXL1 | c.3755A= (p.Asp1252=) c.3572A= (p.Asp1191=) n.6108A= c.1869+1886A= (n.1869+1886A=) c.3740A= (p.Asp1247=) c.3752A= (p.Asp1251=) c.3725A= (p.Asp1242=) c.3671A= (p.Asp1224=) c.3071A= (p.Asp1024=) c.4019A= (p.Asp1340=) c.4016A= (p.Asp1339=) c.3935A= (p.Asp1312=) c.3866A= (p.Asp1289=) c.3734A= (p.Asp1245=) c.3602A= (p.Asp1201=) | |
20 | g.32436467A>C | CA408563736 | ASXL1 | c.3755A>C (p.Asp1252Ala) c.3572A>C (p.Asp1191Ala) n.6108A>C c.1869+1886A>C (n.1869+1886A>C) c.3740A>C (p.Asp1247Ala) c.3752A>C (p.Asp1251Ala) c.3725A>C (p.Asp1242Ala) c.3671A>C (p.Asp1224Ala) c.3071A>C (p.Asp1024Ala) c.4019A>C (p.Asp1340Ala) c.4016A>C (p.Asp1339Ala) c.3935A>C (p.Asp1312Ala) c.3866A>C (p.Asp1289Ala) c.3734A>C (p.Asp1245Ala) c.3602A>C (p.Asp1201Ala) | |
20 | g.32436467A>G | CA9808892 | ASXL1 | c.3755A>G (p.Asp1252Gly) c.3572A>G (p.Asp1191Gly) n.6108A>G c.1869+1886A>G (n.1869+1886A>G) c.3740A>G (p.Asp1247Gly) c.3752A>G (p.Asp1251Gly) c.3725A>G (p.Asp1242Gly) c.3671A>G (p.Asp1224Gly) c.3071A>G (p.Asp1024Gly) c.4019A>G (p.Asp1340Gly) c.4016A>G (p.Asp1339Gly) c.3935A>G (p.Asp1312Gly) c.3866A>G (p.Asp1289Gly) c.3734A>G (p.Asp1245Gly) c.3602A>G (p.Asp1201Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436467A>T | CA408563735 | ASXL1 | c.3755A>T (p.Asp1252Val) c.3572A>T (p.Asp1191Val) n.6108A>T c.1869+1886A>T (n.1869+1886A>T) c.3740A>T (p.Asp1247Val) c.3752A>T (p.Asp1251Val) c.3725A>T (p.Asp1242Val) c.3671A>T (p.Asp1224Val) c.3071A>T (p.Asp1024Val) c.4019A>T (p.Asp1340Val) c.4016A>T (p.Asp1339Val) c.3935A>T (p.Asp1312Val) c.3866A>T (p.Asp1289Val) c.3734A>T (p.Asp1245Val) c.3602A>T (p.Asp1201Val) | |
20 | g.32436468C>A | CA408563737 | ASXL1 | c.3756C>A (p.Asp1252Glu) c.3573C>A (p.Asp1191Glu) n.6109C>A c.1869+1887C>A (n.1869+1887C>A) c.3741C>A (p.Asp1247Glu) c.3753C>A (p.Asp1251Glu) c.3726C>A (p.Asp1242Glu) c.3672C>A (p.Asp1224Glu) c.3072C>A (p.Asp1024Glu) c.4020C>A (p.Asp1340Glu) c.4017C>A (p.Asp1339Glu) c.3936C>A (p.Asp1312Glu) c.3867C>A (p.Asp1289Glu) c.3735C>A (p.Asp1245Glu) c.3603C>A (p.Asp1201Glu) | |
20 | g.32436468C>G | CA408563738 | ASXL1 | c.3756C>G (p.Asp1252Glu) c.3573C>G (p.Asp1191Glu) n.6109C>G c.1869+1887C>G (n.1869+1887C>G) c.3741C>G (p.Asp1247Glu) c.3753C>G (p.Asp1251Glu) c.3726C>G (p.Asp1242Glu) c.3672C>G (p.Asp1224Glu) c.3072C>G (p.Asp1024Glu) c.4020C>G (p.Asp1340Glu) c.4017C>G (p.Asp1339Glu) c.3936C>G (p.Asp1312Glu) c.3867C>G (p.Asp1289Glu) c.3735C>G (p.Asp1245Glu) c.3603C>G (p.Asp1201Glu) | |
20 | g.32436468C>T | CA510467645 | ASXL1 | c.3756C>T (p.Asp1252=) c.3573C>T (p.Asp1191=) n.6109C>T c.1869+1887C>T (n.1869+1887C>T) c.3741C>T (p.Asp1247=) c.3753C>T (p.Asp1251=) c.3726C>T (p.Asp1242=) c.3672C>T (p.Asp1224=) c.3072C>T (p.Asp1024=) c.4020C>T (p.Asp1340=) c.4017C>T (p.Asp1339=) c.3936C>T (p.Asp1312=) c.3867C>T (p.Asp1289=) c.3735C>T (p.Asp1245=) c.3603C>T (p.Asp1201=) | |
20 | g.32436469A= | CA2360293718 | ASXL1 | c.3757A= (p.Ser1253=) c.3574A= (p.Ser1192=) n.6110A= c.1869+1888A= (n.1869+1888A=) c.3742A= (p.Ser1248=) c.3754A= (p.Ser1252=) c.3727A= (p.Ser1243=) c.3673A= (p.Ser1225=) c.3073A= (p.Ser1025=) c.4021A= (p.Ser1341=) c.4018A= (p.Ser1340=) c.3937A= (p.Ser1313=) c.3868A= (p.Ser1290=) c.3736A= (p.Ser1246=) c.3604A= (p.Ser1202=) | |
20 | g.32436469A>C | CA408563739 | ASXL1 | c.3757A>C (p.Ser1253Arg) c.3574A>C (p.Ser1192Arg) n.6110A>C c.1869+1888A>C (n.1869+1888A>C) c.3742A>C (p.Ser1248Arg) c.3754A>C (p.Ser1252Arg) c.3727A>C (p.Ser1243Arg) c.3673A>C (p.Ser1225Arg) c.3073A>C (p.Ser1025Arg) c.4021A>C (p.Ser1341Arg) c.4018A>C (p.Ser1340Arg) c.3937A>C (p.Ser1313Arg) c.3868A>C (p.Ser1290Arg) c.3736A>C (p.Ser1246Arg) c.3604A>C (p.Ser1202Arg) | |
20 | g.32436469A>G | CA408563741 | ASXL1 | c.3757A>G (p.Ser1253Gly) c.3574A>G (p.Ser1192Gly) n.6110A>G c.1869+1888A>G (n.1869+1888A>G) c.3742A>G (p.Ser1248Gly) c.3754A>G (p.Ser1252Gly) c.3727A>G (p.Ser1243Gly) c.3673A>G (p.Ser1225Gly) c.3073A>G (p.Ser1025Gly) c.4021A>G (p.Ser1341Gly) c.4018A>G (p.Ser1340Gly) c.3937A>G (p.Ser1313Gly) c.3868A>G (p.Ser1290Gly) c.3736A>G (p.Ser1246Gly) c.3604A>G (p.Ser1202Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436469A>T | CA408563740 | ASXL1 | c.3757A>T (p.Ser1253Cys) c.3574A>T (p.Ser1192Cys) n.6110A>T c.1869+1888A>T (n.1869+1888A>T) c.3742A>T (p.Ser1248Cys) c.3754A>T (p.Ser1252Cys) c.3727A>T (p.Ser1243Cys) c.3673A>T (p.Ser1225Cys) c.3073A>T (p.Ser1025Cys) c.4021A>T (p.Ser1341Cys) c.4018A>T (p.Ser1340Cys) c.3937A>T (p.Ser1313Cys) c.3868A>T (p.Ser1290Cys) c.3736A>T (p.Ser1246Cys) c.3604A>T (p.Ser1202Cys) | |
20 | g.32436470G>A | CA408563742 | ASXL1 | c.3758G>A (p.Ser1253Asn) c.3575G>A (p.Ser1192Asn) n.6111G>A c.1869+1889G>A (n.1869+1889G>A) c.3743G>A (p.Ser1248Asn) c.3755G>A (p.Ser1252Asn) c.3728G>A (p.Ser1243Asn) c.3674G>A (p.Ser1225Asn) c.3074G>A (p.Ser1025Asn) c.4022G>A (p.Ser1341Asn) c.4019G>A (p.Ser1340Asn) c.3938G>A (p.Ser1313Asn) c.3869G>A (p.Ser1290Asn) c.3737G>A (p.Ser1246Asn) c.3605G>A (p.Ser1202Asn) | gnomAD v4 |
20 | g.32436470G>C | CA408563744 | ASXL1 | c.3758G>C (p.Ser1253Thr) c.3575G>C (p.Ser1192Thr) n.6111G>C c.1869+1889G>C (n.1869+1889G>C) c.3743G>C (p.Ser1248Thr) c.3755G>C (p.Ser1252Thr) c.3728G>C (p.Ser1243Thr) c.3674G>C (p.Ser1225Thr) c.3074G>C (p.Ser1025Thr) c.4022G>C (p.Ser1341Thr) c.4019G>C (p.Ser1340Thr) c.3938G>C (p.Ser1313Thr) c.3869G>C (p.Ser1290Thr) c.3737G>C (p.Ser1246Thr) c.3605G>C (p.Ser1202Thr) | |
20 | g.32436470G= | CA2360293719 | ASXL1 | c.3758G= (p.Ser1253=) c.3575G= (p.Ser1192=) n.6111G= c.1869+1889G= (n.1869+1889G=) c.3743G= (p.Ser1248=) c.3755G= (p.Ser1252=) c.3728G= (p.Ser1243=) c.3674G= (p.Ser1225=) c.3074G= (p.Ser1025=) c.4022G= (p.Ser1341=) c.4019G= (p.Ser1340=) c.3938G= (p.Ser1313=) c.3869G= (p.Ser1290=) c.3737G= (p.Ser1246=) c.3605G= (p.Ser1202=) | |
20 | g.32436470G>T | CA408563743 | ASXL1 | c.3758G>T (p.Ser1253Ile) c.3575G>T (p.Ser1192Ile) n.6111G>T c.1869+1889G>T (n.1869+1889G>T) c.3743G>T (p.Ser1248Ile) c.3755G>T (p.Ser1252Ile) c.3728G>T (p.Ser1243Ile) c.3674G>T (p.Ser1225Ile) c.3074G>T (p.Ser1025Ile) c.4022G>T (p.Ser1341Ile) c.4019G>T (p.Ser1340Ile) c.3938G>T (p.Ser1313Ile) c.3869G>T (p.Ser1290Ile) c.3737G>T (p.Ser1246Ile) c.3605G>T (p.Ser1202Ile) | |
20 | g.32436470dup | CA2842273176 | ASXL1 | c.3758dup (p.Ser1253ArgfsTer2) c.3575dup (p.Ser1192ArgfsTer2) n.6111dup c.1869+1889dup (n.1869+1889dup) c.3743dup (p.Ser1248ArgfsTer2) c.3755dup (p.Ser1252ArgfsTer2) c.3728dup (p.Ser1243ArgfsTer2) c.3674dup (p.Ser1225ArgfsTer2) c.3074dup (p.Ser1025ArgfsTer2) c.4022dup (p.Ser1341ArgfsTer2) c.4019dup (p.Ser1340ArgfsTer2) c.3938dup (p.Ser1313ArgfsTer2) c.3869dup (p.Ser1290ArgfsTer2) c.3737dup (p.Ser1246ArgfsTer2) c.3605dup (p.Ser1202ArgfsTer2) | |
20 | g.32436470_32436471insC | CA9808893 | ASXL1 | c.3758_3759insC (p.Asn1254Ter) c.3575_3576insC (p.Asn1193Ter) n.6111_6112insC c.1869+1889_1869+1890insC (n.1869+1889_1869+1890insC) c.3743_3744insC (p.Asn1249Ter) c.3755_3756insC (p.Asn1253Ter) c.3728_3729insC (p.Asn1244Ter) c.3674_3675insC (p.Asn1226Ter) c.3074_3075insC (p.Asn1026Ter) c.4022_4023insC (p.Asn1342Ter) c.4019_4020insC (p.Asn1341Ter) c.3938_3939insC (p.Asn1314Ter) c.3869_3870insC (p.Asn1291Ter) c.3737_3738insC (p.Asn1247Ter) c.3605_3606insC (p.Asn1203Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436471T>A | CA408563745 | ASXL1 | c.3759T>A (p.Ser1253Arg) c.3576T>A (p.Ser1192Arg) n.6112T>A c.1869+1890T>A (n.1869+1890T>A) c.3744T>A (p.Ser1248Arg) c.3756T>A (p.Ser1252Arg) c.3729T>A (p.Ser1243Arg) c.3675T>A (p.Ser1225Arg) c.3075T>A (p.Ser1025Arg) c.4023T>A (p.Ser1341Arg) c.4020T>A (p.Ser1340Arg) c.3939T>A (p.Ser1313Arg) c.3870T>A (p.Ser1290Arg) c.3738T>A (p.Ser1246Arg) c.3606T>A (p.Ser1202Arg) | dbSNP |
20 | g.32436471T>C | CA9808894 | ASXL1 | c.3759T>C (p.Ser1253=) c.3576T>C (p.Ser1192=) n.6112T>C c.1869+1890T>C (n.1869+1890T>C) c.3744T>C (p.Ser1248=) c.3756T>C (p.Ser1252=) c.3729T>C (p.Ser1243=) c.3675T>C (p.Ser1225=) c.3075T>C (p.Ser1025=) c.4023T>C (p.Ser1341=) c.4020T>C (p.Ser1340=) c.3939T>C (p.Ser1313=) c.3870T>C (p.Ser1290=) c.3738T>C (p.Ser1246=) c.3606T>C (p.Ser1202=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436471T>G | CA408563746 | ASXL1 | c.3759T>G (p.Ser1253Arg) c.3576T>G (p.Ser1192Arg) n.6112T>G c.1869+1890T>G (n.1869+1890T>G) c.3744T>G (p.Ser1248Arg) c.3756T>G (p.Ser1252Arg) c.3729T>G (p.Ser1243Arg) c.3675T>G (p.Ser1225Arg) c.3075T>G (p.Ser1025Arg) c.4023T>G (p.Ser1341Arg) c.4020T>G (p.Ser1340Arg) c.3939T>G (p.Ser1313Arg) c.3870T>G (p.Ser1290Arg) c.3738T>G (p.Ser1246Arg) c.3606T>G (p.Ser1202Arg) | |
20 | g.32436471T= | CA2360293720 | ASXL1 | c.3759T= (p.Ser1253=) c.3576T= (p.Ser1192=) n.6112T= c.1869+1890T= (n.1869+1890T=) c.3744T= (p.Ser1248=) c.3756T= (p.Ser1252=) c.3729T= (p.Ser1243=) c.3675T= (p.Ser1225=) c.3075T= (p.Ser1025=) c.4023T= (p.Ser1341=) c.4020T= (p.Ser1340=) c.3939T= (p.Ser1313=) c.3870T= (p.Ser1290=) c.3738T= (p.Ser1246=) c.3606T= (p.Ser1202=) | |
20 | g.32436472A>C | CA408563747 | ASXL1 | c.3760A>C (p.Asn1254His) c.3577A>C (p.Asn1193His) n.6113A>C c.1869+1891A>C (n.1869+1891A>C) c.3745A>C (p.Asn1249His) c.3757A>C (p.Asn1253His) c.3730A>C (p.Asn1244His) c.3676A>C (p.Asn1226His) c.3076A>C (p.Asn1026His) c.4024A>C (p.Asn1342His) c.4021A>C (p.Asn1341His) c.3940A>C (p.Asn1314His) c.3871A>C (p.Asn1291His) c.3739A>C (p.Asn1247His) c.3607A>C (p.Asn1203His) | |
20 | g.32436472A>G | CA408563748 | ASXL1 | c.3760A>G (p.Asn1254Asp) c.3577A>G (p.Asn1193Asp) n.6113A>G c.1869+1891A>G (n.1869+1891A>G) c.3745A>G (p.Asn1249Asp) c.3757A>G (p.Asn1253Asp) c.3730A>G (p.Asn1244Asp) c.3676A>G (p.Asn1226Asp) c.3076A>G (p.Asn1026Asp) c.4024A>G (p.Asn1342Asp) c.4021A>G (p.Asn1341Asp) c.3940A>G (p.Asn1314Asp) c.3871A>G (p.Asn1291Asp) c.3739A>G (p.Asn1247Asp) c.3607A>G (p.Asn1203Asp) | |
20 | g.32436472A>T | CA408563749 | ASXL1 | c.3760A>T (p.Asn1254Tyr) c.3577A>T (p.Asn1193Tyr) n.6113A>T c.1869+1891A>T (n.1869+1891A>T) c.3745A>T (p.Asn1249Tyr) c.3757A>T (p.Asn1253Tyr) c.3730A>T (p.Asn1244Tyr) c.3676A>T (p.Asn1226Tyr) c.3076A>T (p.Asn1026Tyr) c.4024A>T (p.Asn1342Tyr) c.4021A>T (p.Asn1341Tyr) c.3940A>T (p.Asn1314Tyr) c.3871A>T (p.Asn1291Tyr) c.3739A>T (p.Asn1247Tyr) c.3607A>T (p.Asn1203Tyr) | |
20 | g.32436473A= | CA2360293721 | ASXL1 | c.3761A= (p.Asn1254=) c.3578A= (p.Asn1193=) n.6114A= c.1869+1892A= (n.1869+1892A=) c.3746A= (p.Asn1249=) c.3758A= (p.Asn1253=) c.3731A= (p.Asn1244=) c.3677A= (p.Asn1226=) c.3077A= (p.Asn1026=) c.4025A= (p.Asn1342=) c.4022A= (p.Asn1341=) c.3941A= (p.Asn1314=) c.3872A= (p.Asn1291=) c.3740A= (p.Asn1247=) c.3608A= (p.Asn1203=) | |
20 | g.32436473A>C | CA408563751 | ASXL1 | c.3761A>C (p.Asn1254Thr) c.3578A>C (p.Asn1193Thr) n.6114A>C c.1869+1892A>C (n.1869+1892A>C) c.3746A>C (p.Asn1249Thr) c.3758A>C (p.Asn1253Thr) c.3731A>C (p.Asn1244Thr) c.3677A>C (p.Asn1226Thr) c.3077A>C (p.Asn1026Thr) c.4025A>C (p.Asn1342Thr) c.4022A>C (p.Asn1341Thr) c.3941A>C (p.Asn1314Thr) c.3872A>C (p.Asn1291Thr) c.3740A>C (p.Asn1247Thr) c.3608A>C (p.Asn1203Thr) | |
20 | g.32436473A>G | CA156996 | ASXL1 | c.3761A>G (p.Asn1254Ser) c.3578A>G (p.Asn1193Ser) n.6114A>G c.1869+1892A>G (n.1869+1892A>G) c.3746A>G (p.Asn1249Ser) c.3758A>G (p.Asn1253Ser) c.3731A>G (p.Asn1244Ser) c.3677A>G (p.Asn1226Ser) c.3077A>G (p.Asn1026Ser) c.4025A>G (p.Asn1342Ser) c.4022A>G (p.Asn1341Ser) c.3941A>G (p.Asn1314Ser) c.3872A>G (p.Asn1291Ser) c.3740A>G (p.Asn1247Ser) c.3608A>G (p.Asn1203Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436473A>T | CA408563750 | ASXL1 | c.3761A>T (p.Asn1254Ile) c.3578A>T (p.Asn1193Ile) n.6114A>T c.1869+1892A>T (n.1869+1892A>T) c.3746A>T (p.Asn1249Ile) c.3758A>T (p.Asn1253Ile) c.3731A>T (p.Asn1244Ile) c.3677A>T (p.Asn1226Ile) c.3077A>T (p.Asn1026Ile) c.4025A>T (p.Asn1342Ile) c.4022A>T (p.Asn1341Ile) c.3941A>T (p.Asn1314Ile) c.3872A>T (p.Asn1291Ile) c.3740A>T (p.Asn1247Ile) c.3608A>T (p.Asn1203Ile) | |
20 | g.32436474T>A | CA408563752 | ASXL1 | c.3762T>A (p.Asn1254Lys) c.3579T>A (p.Asn1193Lys) n.6115T>A c.1869+1893T>A (n.1869+1893T>A) c.3747T>A (p.Asn1249Lys) c.3759T>A (p.Asn1253Lys) c.3732T>A (p.Asn1244Lys) c.3678T>A (p.Asn1226Lys) c.3078T>A (p.Asn1026Lys) c.4026T>A (p.Asn1342Lys) c.4023T>A (p.Asn1341Lys) c.3942T>A (p.Asn1314Lys) c.3873T>A (p.Asn1291Lys) c.3741T>A (p.Asn1247Lys) c.3609T>A (p.Asn1203Lys) | |
20 | g.32436474T>C | CA510467650 | ASXL1 | c.3762T>C (p.Asn1254=) c.3579T>C (p.Asn1193=) n.6115T>C c.1869+1893T>C (n.1869+1893T>C) c.3747T>C (p.Asn1249=) c.3759T>C (p.Asn1253=) c.3732T>C (p.Asn1244=) c.3678T>C (p.Asn1226=) c.3078T>C (p.Asn1026=) c.4026T>C (p.Asn1342=) c.4023T>C (p.Asn1341=) c.3942T>C (p.Asn1314=) c.3873T>C (p.Asn1291=) c.3741T>C (p.Asn1247=) c.3609T>C (p.Asn1203=) | |
20 | g.32436474T>G | CA408563753 | ASXL1 | c.3762T>G (p.Asn1254Lys) c.3579T>G (p.Asn1193Lys) n.6115T>G c.1869+1893T>G (n.1869+1893T>G) c.3747T>G (p.Asn1249Lys) c.3759T>G (p.Asn1253Lys) c.3732T>G (p.Asn1244Lys) c.3678T>G (p.Asn1226Lys) c.3078T>G (p.Asn1026Lys) c.4026T>G (p.Asn1342Lys) c.4023T>G (p.Asn1341Lys) c.3942T>G (p.Asn1314Lys) c.3873T>G (p.Asn1291Lys) c.3741T>G (p.Asn1247Lys) c.3609T>G (p.Asn1203Lys) | |
20 | g.32436475del | CA2695229725 | ASXL1 | c.3763del (p.Ser1255GlnfsTer25) c.3580del (p.Ser1194GlnfsTer25) n.6116del c.1869+1894del (n.1869+1894del) c.3748del (p.Ser1250GlnfsTer25) c.3760del (p.Ser1254GlnfsTer25) c.3733del (p.Ser1245GlnfsTer25) c.3679del (p.Ser1227GlnfsTer25) c.3079del (p.Ser1027GlnfsTer25) c.4027del (p.Ser1343GlnfsTer25) c.4024del (p.Ser1342GlnfsTer25) c.3943del (p.Ser1315GlnfsTer25) c.3874del (p.Ser1292GlnfsTer25) c.3742del (p.Ser1248GlnfsTer25) c.3610del (p.Ser1204GlnfsTer25) | |
20 | g.32436475T>A | CA408563754 | ASXL1 | c.3763T>A (p.Ser1255Thr) c.3580T>A (p.Ser1194Thr) n.6116T>A c.1869+1894T>A (n.1869+1894T>A) c.3748T>A (p.Ser1250Thr) c.3760T>A (p.Ser1254Thr) c.3733T>A (p.Ser1245Thr) c.3679T>A (p.Ser1227Thr) c.3079T>A (p.Ser1027Thr) c.4027T>A (p.Ser1343Thr) c.4024T>A (p.Ser1342Thr) c.3943T>A (p.Ser1315Thr) c.3874T>A (p.Ser1292Thr) c.3742T>A (p.Ser1248Thr) c.3610T>A (p.Ser1204Thr) | |
20 | g.32436475T>C | CA408563755 | ASXL1 | c.3763T>C (p.Ser1255Pro) c.3580T>C (p.Ser1194Pro) n.6116T>C c.1869+1894T>C (n.1869+1894T>C) c.3748T>C (p.Ser1250Pro) c.3760T>C (p.Ser1254Pro) c.3733T>C (p.Ser1245Pro) c.3679T>C (p.Ser1227Pro) c.3079T>C (p.Ser1027Pro) c.4027T>C (p.Ser1343Pro) c.4024T>C (p.Ser1342Pro) c.3943T>C (p.Ser1315Pro) c.3874T>C (p.Ser1292Pro) c.3742T>C (p.Ser1248Pro) c.3610T>C (p.Ser1204Pro) | ClinVar dbSNP |
20 | g.32436475T>G | CA408563756 | ASXL1 | c.3763T>G (p.Ser1255Ala) c.3580T>G (p.Ser1194Ala) n.6116T>G c.1869+1894T>G (n.1869+1894T>G) c.3748T>G (p.Ser1250Ala) c.3760T>G (p.Ser1254Ala) c.3733T>G (p.Ser1245Ala) c.3679T>G (p.Ser1227Ala) c.3079T>G (p.Ser1027Ala) c.4027T>G (p.Ser1343Ala) c.4024T>G (p.Ser1342Ala) c.3943T>G (p.Ser1315Ala) c.3874T>G (p.Ser1292Ala) c.3742T>G (p.Ser1248Ala) c.3610T>G (p.Ser1204Ala) | |
20 | g.32436476del | CA2695202491 | ASXL1 | c.3764del (p.Ser1255Ter) c.3581del (p.Ser1194Ter) n.6117del c.1869+1895del (n.1869+1895del) c.3749del (p.Ser1250Ter) c.3761del (p.Ser1254Ter) c.3734del (p.Ser1245Ter) c.3680del (p.Ser1227Ter) c.3080del (p.Ser1027Ter) c.4028del (p.Ser1343Ter) c.4025del (p.Ser1342Ter) c.3944del (p.Ser1315Ter) c.3875del (p.Ser1292Ter) c.3743del (p.Ser1248Ter) c.3611del (p.Ser1204Ter) | |
20 | g.32436476C>A | CA408563757 | ASXL1 | c.3764C>A (p.Ser1255Ter) c.3581C>A (p.Ser1194Ter) n.6117C>A c.1869+1895C>A (n.1869+1895C>A) c.3749C>A (p.Ser1250Ter) c.3761C>A (p.Ser1254Ter) c.3734C>A (p.Ser1245Ter) c.3680C>A (p.Ser1227Ter) c.3080C>A (p.Ser1027Ter) c.4028C>A (p.Ser1343Ter) c.4025C>A (p.Ser1342Ter) c.3944C>A (p.Ser1315Ter) c.3875C>A (p.Ser1292Ter) c.3743C>A (p.Ser1248Ter) c.3611C>A (p.Ser1204Ter) | dbSNP |
20 | g.32436476C>G | CA408563759 | ASXL1 | c.3764C>G (p.Ser1255Ter) c.3581C>G (p.Ser1194Ter) n.6117C>G c.1869+1895C>G (n.1869+1895C>G) c.3749C>G (p.Ser1250Ter) c.3761C>G (p.Ser1254Ter) c.3734C>G (p.Ser1245Ter) c.3680C>G (p.Ser1227Ter) c.3080C>G (p.Ser1027Ter) c.4028C>G (p.Ser1343Ter) c.4025C>G (p.Ser1342Ter) c.3944C>G (p.Ser1315Ter) c.3875C>G (p.Ser1292Ter) c.3743C>G (p.Ser1248Ter) c.3611C>G (p.Ser1204Ter) | COSMIC |
20 | g.32436476C>T | CA408563758 | ASXL1 | c.3764C>T (p.Ser1255Leu) c.3581C>T (p.Ser1194Leu) n.6117C>T c.1869+1895C>T (n.1869+1895C>T) c.3749C>T (p.Ser1250Leu) c.3761C>T (p.Ser1254Leu) c.3734C>T (p.Ser1245Leu) c.3680C>T (p.Ser1227Leu) c.3080C>T (p.Ser1027Leu) c.4028C>T (p.Ser1343Leu) c.4025C>T (p.Ser1342Leu) c.3944C>T (p.Ser1315Leu) c.3875C>T (p.Ser1292Leu) c.3743C>T (p.Ser1248Leu) c.3611C>T (p.Ser1204Leu) | gnomAD v4 |
20 | g.32436476_32436477delinsCA | CA2360293722 | ASXL1 | c.3764_3765delinsCA (p.Ser1255=) c.3581_3582delinsCA (p.Ser1194=) n.6117_6118delinsCA c.1869+1895_1869+1896delinsCA (n.1869+1895_1869+1896delinsCA) c.3749_3750delinsCA (p.Ser1250=) c.3761_3762delinsCA (p.Ser1254=) c.3734_3735delinsCA (p.Ser1245=) c.3680_3681delinsCA (p.Ser1227=) c.3080_3081delinsCA (p.Ser1027=) c.4028_4029delinsCA (p.Ser1343=) c.4025_4026delinsCA (p.Ser1342=) c.3944_3945delinsCA (p.Ser1315=) c.3875_3876delinsCA (p.Ser1292=) c.3743_3744delinsCA (p.Ser1248=) c.3611_3612delinsCA (p.Ser1204=) | |
20 | g.32436477A>C | CA510467651 | ASXL1 | c.3765A>C (p.Ser1255=) c.3582A>C (p.Ser1194=) n.6118A>C c.1869+1896A>C (n.1869+1896A>C) c.3750A>C (p.Ser1250=) c.3762A>C (p.Ser1254=) c.3735A>C (p.Ser1245=) c.3681A>C (p.Ser1227=) c.3081A>C (p.Ser1027=) c.4029A>C (p.Ser1343=) c.4026A>C (p.Ser1342=) c.3945A>C (p.Ser1315=) c.3876A>C (p.Ser1292=) c.3744A>C (p.Ser1248=) c.3612A>C (p.Ser1204=) | |
20 | g.32436477A>G | CA510467652 | ASXL1 | c.3765A>G (p.Ser1255=) c.3582A>G (p.Ser1194=) n.6118A>G c.1869+1896A>G (n.1869+1896A>G) c.3750A>G (p.Ser1250=) c.3762A>G (p.Ser1254=) c.3735A>G (p.Ser1245=) c.3681A>G (p.Ser1227=) c.3081A>G (p.Ser1027=) c.4029A>G (p.Ser1343=) c.4026A>G (p.Ser1342=) c.3945A>G (p.Ser1315=) c.3876A>G (p.Ser1292=) c.3744A>G (p.Ser1248=) c.3612A>G (p.Ser1204=) | |
20 | g.32436477A>T | CA510467653 | ASXL1 | c.3765A>T (p.Ser1255=) c.3582A>T (p.Ser1194=) n.6118A>T c.1869+1896A>T (n.1869+1896A>T) c.3750A>T (p.Ser1250=) c.3762A>T (p.Ser1254=) c.3735A>T (p.Ser1245=) c.3681A>T (p.Ser1227=) c.3081A>T (p.Ser1027=) c.4029A>T (p.Ser1343=) c.4026A>T (p.Ser1342=) c.3945A>T (p.Ser1315=) c.3876A>T (p.Ser1292=) c.3744A>T (p.Ser1248=) c.3612A>T (p.Ser1204=) | |
20 | g.32436479del | CA9808895 | ASXL1 | c.3767del (p.Asn1256MetfsTer24) c.3584del (p.Asn1195MetfsTer24) n.6120del c.1869+1898del (n.1869+1898del) c.3752del (p.Asn1251MetfsTer24) c.3764del (p.Asn1255MetfsTer24) c.3737del (p.Asn1246MetfsTer24) c.3683del (p.Asn1228MetfsTer24) c.3083del (p.Asn1028MetfsTer24) c.4031del (p.Asn1344MetfsTer24) c.4028del (p.Asn1343MetfsTer24) c.3947del (p.Asn1316MetfsTer24) c.3878del (p.Asn1293MetfsTer24) c.3746del (p.Asn1249MetfsTer24) c.3614del (p.Asn1205MetfsTer24) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436478A>C | CA408563760 | ASXL1 | c.3766A>C (p.Asn1256His) c.3583A>C (p.Asn1195His) n.6119A>C c.1869+1897A>C (n.1869+1897A>C) c.3751A>C (p.Asn1251His) c.3763A>C (p.Asn1255His) c.3736A>C (p.Asn1246His) c.3682A>C (p.Asn1228His) c.3082A>C (p.Asn1028His) c.4030A>C (p.Asn1344His) c.4027A>C (p.Asn1343His) c.3946A>C (p.Asn1316His) c.3877A>C (p.Asn1293His) c.3745A>C (p.Asn1249His) c.3613A>C (p.Asn1205His) | |
20 | g.32436478A>G | CA408563761 | ASXL1 | c.3766A>G (p.Asn1256Asp) c.3583A>G (p.Asn1195Asp) n.6119A>G c.1869+1897A>G (n.1869+1897A>G) c.3751A>G (p.Asn1251Asp) c.3763A>G (p.Asn1255Asp) c.3736A>G (p.Asn1246Asp) c.3682A>G (p.Asn1228Asp) c.3082A>G (p.Asn1028Asp) c.4030A>G (p.Asn1344Asp) c.4027A>G (p.Asn1343Asp) c.3946A>G (p.Asn1316Asp) c.3877A>G (p.Asn1293Asp) c.3745A>G (p.Asn1249Asp) c.3613A>G (p.Asn1205Asp) | |
20 | g.32436478A>T | CA408563762 | ASXL1 | c.3766A>T (p.Asn1256Tyr) c.3583A>T (p.Asn1195Tyr) n.6119A>T c.1869+1897A>T (n.1869+1897A>T) c.3751A>T (p.Asn1251Tyr) c.3763A>T (p.Asn1255Tyr) c.3736A>T (p.Asn1246Tyr) c.3682A>T (p.Asn1228Tyr) c.3082A>T (p.Asn1028Tyr) c.4030A>T (p.Asn1344Tyr) c.4027A>T (p.Asn1343Tyr) c.3946A>T (p.Asn1316Tyr) c.3877A>T (p.Asn1293Tyr) c.3745A>T (p.Asn1249Tyr) c.3613A>T (p.Asn1205Tyr) | |
20 | g.32436479A= | CA2360293723 | ASXL1 | c.3767A= (p.Asn1256=) c.3584A= (p.Asn1195=) n.6120A= c.1869+1898A= (n.1869+1898A=) c.3752A= (p.Asn1251=) c.3764A= (p.Asn1255=) c.3737A= (p.Asn1246=) c.3683A= (p.Asn1228=) c.3083A= (p.Asn1028=) c.4031A= (p.Asn1344=) c.4028A= (p.Asn1343=) c.3947A= (p.Asn1316=) c.3878A= (p.Asn1293=) c.3746A= (p.Asn1249=) c.3614A= (p.Asn1205=) | |
20 | g.32436479A>C | CA408563763 | ASXL1 | c.3767A>C (p.Asn1256Thr) c.3584A>C (p.Asn1195Thr) n.6120A>C c.1869+1898A>C (n.1869+1898A>C) c.3752A>C (p.Asn1251Thr) c.3764A>C (p.Asn1255Thr) c.3737A>C (p.Asn1246Thr) c.3683A>C (p.Asn1228Thr) c.3083A>C (p.Asn1028Thr) c.4031A>C (p.Asn1344Thr) c.4028A>C (p.Asn1343Thr) c.3947A>C (p.Asn1316Thr) c.3878A>C (p.Asn1293Thr) c.3746A>C (p.Asn1249Thr) c.3614A>C (p.Asn1205Thr) | |
20 | g.32436479A>G | CA408563764 | ASXL1 | c.3767A>G (p.Asn1256Ser) c.3584A>G (p.Asn1195Ser) n.6120A>G c.1869+1898A>G (n.1869+1898A>G) c.3752A>G (p.Asn1251Ser) c.3764A>G (p.Asn1255Ser) c.3737A>G (p.Asn1246Ser) c.3683A>G (p.Asn1228Ser) c.3083A>G (p.Asn1028Ser) c.4031A>G (p.Asn1344Ser) c.4028A>G (p.Asn1343Ser) c.3947A>G (p.Asn1316Ser) c.3878A>G (p.Asn1293Ser) c.3746A>G (p.Asn1249Ser) c.3614A>G (p.Asn1205Ser) | gnomAD v4 |
20 | g.32436479A>T | CA9808896 | ASXL1 | c.3767A>T (p.Asn1256Ile) c.3584A>T (p.Asn1195Ile) n.6120A>T c.1869+1898A>T (n.1869+1898A>T) c.3752A>T (p.Asn1251Ile) c.3764A>T (p.Asn1255Ile) c.3737A>T (p.Asn1246Ile) c.3683A>T (p.Asn1228Ile) c.3083A>T (p.Asn1028Ile) c.4031A>T (p.Asn1344Ile) c.4028A>T (p.Asn1343Ile) c.3947A>T (p.Asn1316Ile) c.3878A>T (p.Asn1293Ile) c.3746A>T (p.Asn1249Ile) c.3614A>T (p.Asn1205Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436480del | CA658768355 | ASXL1 | c.3768del (p.Asn1256LysfsTer24) c.3585del (p.Asn1195LysfsTer24) n.6121del c.1869+1899del (n.1869+1899del) c.3753del (p.Asn1251LysfsTer24) c.3765del (p.Asn1255LysfsTer24) c.3738del (p.Asn1246LysfsTer24) c.3684del (p.Asn1228LysfsTer24) c.3084del (p.Asn1028LysfsTer24) c.4032del (p.Asn1344LysfsTer24) c.4029del (p.Asn1343LysfsTer24) c.3948del (p.Asn1316LysfsTer24) c.3879del (p.Asn1293LysfsTer24) c.3747del (p.Asn1249LysfsTer24) c.3615del (p.Asn1205LysfsTer24) | |
20 | g.32436480T>A | CA408563765 | ASXL1 | c.3768T>A (p.Asn1256Lys) c.3585T>A (p.Asn1195Lys) n.6121T>A c.1869+1899T>A (n.1869+1899T>A) c.3753T>A (p.Asn1251Lys) c.3765T>A (p.Asn1255Lys) c.3738T>A (p.Asn1246Lys) c.3684T>A (p.Asn1228Lys) c.3084T>A (p.Asn1028Lys) c.4032T>A (p.Asn1344Lys) c.4029T>A (p.Asn1343Lys) c.3948T>A (p.Asn1316Lys) c.3879T>A (p.Asn1293Lys) c.3747T>A (p.Asn1249Lys) c.3615T>A (p.Asn1205Lys) | |
20 | g.32436480T>C | CA510467657 | ASXL1 | c.3768T>C (p.Asn1256=) c.3585T>C (p.Asn1195=) n.6121T>C c.1869+1899T>C (n.1869+1899T>C) c.3753T>C (p.Asn1251=) c.3765T>C (p.Asn1255=) c.3738T>C (p.Asn1246=) c.3684T>C (p.Asn1228=) c.3084T>C (p.Asn1028=) c.4032T>C (p.Asn1344=) c.4029T>C (p.Asn1343=) c.3948T>C (p.Asn1316=) c.3879T>C (p.Asn1293=) c.3747T>C (p.Asn1249=) c.3615T>C (p.Asn1205=) | |
20 | g.32436480T>G | CA408563766 | ASXL1 | c.3768T>G (p.Asn1256Lys) c.3585T>G (p.Asn1195Lys) n.6121T>G c.1869+1899T>G (n.1869+1899T>G) c.3753T>G (p.Asn1251Lys) c.3765T>G (p.Asn1255Lys) c.3738T>G (p.Asn1246Lys) c.3684T>G (p.Asn1228Lys) c.3084T>G (p.Asn1028Lys) c.4032T>G (p.Asn1344Lys) c.4029T>G (p.Asn1343Lys) c.3948T>G (p.Asn1316Lys) c.3879T>G (p.Asn1293Lys) c.3747T>G (p.Asn1249Lys) c.3615T>G (p.Asn1205Lys) | |
20 | g.32436480_32436481delinsTG | CA2360293724 | ASXL1 | c.3768_3769delinsTG (p.Asn1256=) c.3585_3586delinsTG (p.Asn1195=) n.6121_6122delinsTG c.1869+1899_1869+1900delinsTG (n.1869+1899_1869+1900delinsTG) c.3753_3754delinsTG (p.Asn1251=) c.3765_3766delinsTG (p.Asn1255=) c.3738_3739delinsTG (p.Asn1246=) c.3684_3685delinsTG (p.Asn1228=) c.3084_3085delinsTG (p.Asn1028=) c.4032_4033delinsTG (p.Asn1344=) c.4029_4030delinsTG (p.Asn1343=) c.3948_3949delinsTG (p.Asn1316=) c.3879_3880delinsTG (p.Asn1293=) c.3747_3748delinsTG (p.Asn1249=) c.3615_3616delinsTG (p.Asn1205=) | |
20 | g.32436480_32436481dup | CA635268552 | ASXL1 | c.3768_3769dup (p.Ala1257ValfsTer24) c.3585_3586dup (p.Ala1196ValfsTer24) n.6121_6122dup c.1869+1899_1869+1900dup (n.1869+1899_1869+1900dup) c.3753_3754dup (p.Ala1252ValfsTer24) c.3765_3766dup (p.Ala1256ValfsTer24) c.3738_3739dup (p.Ala1247ValfsTer24) c.3684_3685dup (p.Ala1229ValfsTer24) c.3084_3085dup (p.Ala1029ValfsTer24) c.4032_4033dup (p.Ala1345ValfsTer24) c.4029_4030dup (p.Ala1344ValfsTer24) c.3948_3949dup (p.Ala1317ValfsTer24) c.3879_3880dup (p.Ala1294ValfsTer24) c.3747_3748dup (p.Ala1250ValfsTer24) c.3615_3616dup (p.Ala1206ValfsTer24) | gnomAD v2 gnomAD v4 |
20 | g.32436481del | CA915952954 | ASXL1 | c.3769del (p.Ala1257LeufsTer23) c.3586del (p.Ala1196LeufsTer23) n.6122del c.1869+1900del (n.1869+1900del) c.3754del (p.Ala1252LeufsTer23) c.3766del (p.Ala1256LeufsTer23) c.3739del (p.Ala1247LeufsTer23) c.3685del (p.Ala1229LeufsTer23) c.3085del (p.Ala1029LeufsTer23) c.4033del (p.Ala1345LeufsTer23) c.4030del (p.Ala1344LeufsTer23) c.3949del (p.Ala1317LeufsTer23) c.3880del (p.Ala1294LeufsTer23) c.3748del (p.Ala1250LeufsTer23) c.3616del (p.Ala1206LeufsTer23) | ClinVar dbSNP |
20 | g.32436481G>A | CA408563767 | ASXL1 | c.3769G>A (p.Ala1257Thr) c.3586G>A (p.Ala1196Thr) n.6122G>A c.1869+1900G>A (n.1869+1900G>A) c.3754G>A (p.Ala1252Thr) c.3766G>A (p.Ala1256Thr) c.3739G>A (p.Ala1247Thr) c.3685G>A (p.Ala1229Thr) c.3085G>A (p.Ala1029Thr) c.4033G>A (p.Ala1345Thr) c.4030G>A (p.Ala1344Thr) c.3949G>A (p.Ala1317Thr) c.3880G>A (p.Ala1294Thr) c.3748G>A (p.Ala1250Thr) c.3616G>A (p.Ala1206Thr) | gnomAD v4 |
20 | g.32436481G>C | CA408563768 | ASXL1 | c.3769G>C (p.Ala1257Pro) c.3586G>C (p.Ala1196Pro) n.6122G>C c.1869+1900G>C (n.1869+1900G>C) c.3754G>C (p.Ala1252Pro) c.3766G>C (p.Ala1256Pro) c.3739G>C (p.Ala1247Pro) c.3685G>C (p.Ala1229Pro) c.3085G>C (p.Ala1029Pro) c.4033G>C (p.Ala1345Pro) c.4030G>C (p.Ala1344Pro) c.3949G>C (p.Ala1317Pro) c.3880G>C (p.Ala1294Pro) c.3748G>C (p.Ala1250Pro) c.3616G>C (p.Ala1206Pro) | |
20 | g.32436481G>T | CA408563769 | ASXL1 | c.3769G>T (p.Ala1257Ser) c.3586G>T (p.Ala1196Ser) n.6122G>T c.1869+1900G>T (n.1869+1900G>T) c.3754G>T (p.Ala1252Ser) c.3766G>T (p.Ala1256Ser) c.3739G>T (p.Ala1247Ser) c.3685G>T (p.Ala1229Ser) c.3085G>T (p.Ala1029Ser) c.4033G>T (p.Ala1345Ser) c.4030G>T (p.Ala1344Ser) c.3949G>T (p.Ala1317Ser) c.3880G>T (p.Ala1294Ser) c.3748G>T (p.Ala1250Ser) c.3616G>T (p.Ala1206Ser) | |
20 | g.32436482C>A | CA408563770 | ASXL1 | c.3770C>A (p.Ala1257Asp) c.3587C>A (p.Ala1196Asp) n.6123C>A c.1869+1901C>A (n.1869+1901C>A) c.3755C>A (p.Ala1252Asp) c.3767C>A (p.Ala1256Asp) c.3740C>A (p.Ala1247Asp) c.3686C>A (p.Ala1229Asp) c.3086C>A (p.Ala1029Asp) c.4034C>A (p.Ala1345Asp) c.4031C>A (p.Ala1344Asp) c.3950C>A (p.Ala1317Asp) c.3881C>A (p.Ala1294Asp) c.3749C>A (p.Ala1250Asp) c.3617C>A (p.Ala1206Asp) | |
20 | g.32436482C= | CA2360293725 | ASXL1 | c.3770C= (p.Ala1257=) c.3587C= (p.Ala1196=) n.6123C= c.1869+1901C= (n.1869+1901C=) c.3755C= (p.Ala1252=) c.3767C= (p.Ala1256=) c.3740C= (p.Ala1247=) c.3686C= (p.Ala1229=) c.3086C= (p.Ala1029=) c.4034C= (p.Ala1345=) c.4031C= (p.Ala1344=) c.3950C= (p.Ala1317=) c.3881C= (p.Ala1294=) c.3749C= (p.Ala1250=) c.3617C= (p.Ala1206=) | |
20 | g.32436482C>G | CA408563772 | ASXL1 | c.3770C>G (p.Ala1257Gly) c.3587C>G (p.Ala1196Gly) n.6123C>G c.1869+1901C>G (n.1869+1901C>G) c.3755C>G (p.Ala1252Gly) c.3767C>G (p.Ala1256Gly) c.3740C>G (p.Ala1247Gly) c.3686C>G (p.Ala1229Gly) c.3086C>G (p.Ala1029Gly) c.4034C>G (p.Ala1345Gly) c.4031C>G (p.Ala1344Gly) c.3950C>G (p.Ala1317Gly) c.3881C>G (p.Ala1294Gly) c.3749C>G (p.Ala1250Gly) c.3617C>G (p.Ala1206Gly) | gnomAD v4 |
20 | g.32436482C>T | CA408563771 | ASXL1 | c.3770C>T (p.Ala1257Val) c.3587C>T (p.Ala1196Val) n.6123C>T c.1869+1901C>T (n.1869+1901C>T) c.3755C>T (p.Ala1252Val) c.3767C>T (p.Ala1256Val) c.3740C>T (p.Ala1247Val) c.3686C>T (p.Ala1229Val) c.3086C>T (p.Ala1029Val) c.4034C>T (p.Ala1345Val) c.4031C>T (p.Ala1344Val) c.3950C>T (p.Ala1317Val) c.3881C>T (p.Ala1294Val) c.3749C>T (p.Ala1250Val) c.3617C>T (p.Ala1206Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436483T>A | CA510467659 | ASXL1 | c.3771T>A (p.Ala1257=) c.3588T>A (p.Ala1196=) n.6124T>A c.1869+1902T>A (n.1869+1902T>A) c.3756T>A (p.Ala1252=) c.3768T>A (p.Ala1256=) c.3741T>A (p.Ala1247=) c.3687T>A (p.Ala1229=) c.3087T>A (p.Ala1029=) c.4035T>A (p.Ala1345=) c.4032T>A (p.Ala1344=) c.3951T>A (p.Ala1317=) c.3882T>A (p.Ala1294=) c.3750T>A (p.Ala1250=) c.3618T>A (p.Ala1206=) | |
20 | g.32436483T>C | CA510467660 | ASXL1 | c.3771T>C (p.Ala1257=) c.3588T>C (p.Ala1196=) n.6124T>C c.1869+1902T>C (n.1869+1902T>C) c.3756T>C (p.Ala1252=) c.3768T>C (p.Ala1256=) c.3741T>C (p.Ala1247=) c.3687T>C (p.Ala1229=) c.3087T>C (p.Ala1029=) c.4035T>C (p.Ala1345=) c.4032T>C (p.Ala1344=) c.3951T>C (p.Ala1317=) c.3882T>C (p.Ala1294=) c.3750T>C (p.Ala1250=) c.3618T>C (p.Ala1206=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436483T>G | CA510467661 | ASXL1 | c.3771T>G (p.Ala1257=) c.3588T>G (p.Ala1196=) n.6124T>G c.1869+1902T>G (n.1869+1902T>G) c.3756T>G (p.Ala1252=) c.3768T>G (p.Ala1256=) c.3741T>G (p.Ala1247=) c.3687T>G (p.Ala1229=) c.3087T>G (p.Ala1029=) c.4035T>G (p.Ala1345=) c.4032T>G (p.Ala1344=) c.3951T>G (p.Ala1317=) c.3882T>G (p.Ala1294=) c.3750T>G (p.Ala1250=) c.3618T>G (p.Ala1206=) | |
20 | g.32436483T= | CA2360293727 | ASXL1 | c.3771T= (p.Ala1257=) c.3588T= (p.Ala1196=) n.6124T= c.1869+1902T= (n.1869+1902T=) c.3756T= (p.Ala1252=) c.3768T= (p.Ala1256=) c.3741T= (p.Ala1247=) c.3687T= (p.Ala1229=) c.3087T= (p.Ala1029=) c.4035T= (p.Ala1345=) c.4032T= (p.Ala1344=) c.3951T= (p.Ala1317=) c.3882T= (p.Ala1294=) c.3750T= (p.Ala1250=) c.3618T= (p.Ala1206=) | |
20 | g.32436483_32436484delinsTG | CA2360293726 | ASXL1 | c.3771_3772delinsTG (p.Ala1257=) c.3588_3589delinsTG (p.Ala1196=) n.6124_6125delinsTG c.1869+1902_1869+1903delinsTG (n.1869+1902_1869+1903delinsTG) c.3756_3757delinsTG (p.Ala1252=) c.3768_3769delinsTG (p.Ala1256=) c.3741_3742delinsTG (p.Ala1247=) c.3687_3688delinsTG (p.Ala1229=) c.3087_3088delinsTG (p.Ala1029=) c.4035_4036delinsTG (p.Ala1345=) c.4032_4033delinsTG (p.Ala1344=) c.3951_3952delinsTG (p.Ala1317=) c.3882_3883delinsTG (p.Ala1294=) c.3750_3751delinsTG (p.Ala1250=) c.3618_3619delinsTG (p.Ala1206=) | |
20 | g.32436484del | CA743615700 | ASXL1 | c.3772del (p.Ala1258LeufsTer22) c.3589del (p.Ala1197LeufsTer22) n.6125del c.1869+1903del (n.1869+1903del) c.3757del (p.Ala1253LeufsTer22) c.3769del (p.Ala1257LeufsTer22) c.3742del (p.Ala1248LeufsTer22) c.3688del (p.Ala1230LeufsTer22) c.3088del (p.Ala1030LeufsTer22) c.4036del (p.Ala1346LeufsTer22) c.4033del (p.Ala1345LeufsTer22) c.3952del (p.Ala1318LeufsTer22) c.3883del (p.Ala1295LeufsTer22) c.3751del (p.Ala1251LeufsTer22) c.3619del (p.Ala1207LeufsTer22) | dbSNP |
20 | g.32436484G>A | CA408563773 | ASXL1 | c.3772G>A (p.Ala1258Thr) c.3589G>A (p.Ala1197Thr) n.6125G>A c.1869+1903G>A (n.1869+1903G>A) c.3757G>A (p.Ala1253Thr) c.3769G>A (p.Ala1257Thr) c.3742G>A (p.Ala1248Thr) c.3688G>A (p.Ala1230Thr) c.3088G>A (p.Ala1030Thr) c.4036G>A (p.Ala1346Thr) c.4033G>A (p.Ala1345Thr) c.3952G>A (p.Ala1318Thr) c.3883G>A (p.Ala1295Thr) c.3751G>A (p.Ala1251Thr) c.3619G>A (p.Ala1207Thr) | dbSNP gnomAD v4 |
20 | g.32436484G>C | CA408563774 | ASXL1 | c.3772G>C (p.Ala1258Pro) c.3589G>C (p.Ala1197Pro) n.6125G>C c.1869+1903G>C (n.1869+1903G>C) c.3757G>C (p.Ala1253Pro) c.3769G>C (p.Ala1257Pro) c.3742G>C (p.Ala1248Pro) c.3688G>C (p.Ala1230Pro) c.3088G>C (p.Ala1030Pro) c.4036G>C (p.Ala1346Pro) c.4033G>C (p.Ala1345Pro) c.3952G>C (p.Ala1318Pro) c.3883G>C (p.Ala1295Pro) c.3751G>C (p.Ala1251Pro) c.3619G>C (p.Ala1207Pro) | |
20 | g.32436484G= | CA2360293728 | ASXL1 | c.3772G= (p.Ala1258=) c.3589G= (p.Ala1197=) n.6125G= c.1869+1903G= (n.1869+1903G=) c.3757G= (p.Ala1253=) c.3769G= (p.Ala1257=) c.3742G= (p.Ala1248=) c.3688G= (p.Ala1230=) c.3088G= (p.Ala1030=) c.4036G= (p.Ala1346=) c.4033G= (p.Ala1345=) c.3952G= (p.Ala1318=) c.3883G= (p.Ala1295=) c.3751G= (p.Ala1251=) c.3619G= (p.Ala1207=) | |
20 | g.32436484G>T | CA313926360 | ASXL1 | c.3772G>T (p.Ala1258Ser) c.3589G>T (p.Ala1197Ser) n.6125G>T c.1869+1903G>T (n.1869+1903G>T) c.3757G>T (p.Ala1253Ser) c.3769G>T (p.Ala1257Ser) c.3742G>T (p.Ala1248Ser) c.3688G>T (p.Ala1230Ser) c.3088G>T (p.Ala1030Ser) c.4036G>T (p.Ala1346Ser) c.4033G>T (p.Ala1345Ser) c.3952G>T (p.Ala1318Ser) c.3883G>T (p.Ala1295Ser) c.3751G>T (p.Ala1251Ser) c.3619G>T (p.Ala1207Ser) | dbSNP |
20 | g.32436485C>A | CA408563775 | ASXL1 | c.3773C>A (p.Ala1258Asp) c.3590C>A (p.Ala1197Asp) n.6126C>A c.1869+1904C>A (n.1869+1904C>A) c.3758C>A (p.Ala1253Asp) c.3770C>A (p.Ala1257Asp) c.3743C>A (p.Ala1248Asp) c.3689C>A (p.Ala1230Asp) c.3089C>A (p.Ala1030Asp) c.4037C>A (p.Ala1346Asp) c.4034C>A (p.Ala1345Asp) c.3953C>A (p.Ala1318Asp) c.3884C>A (p.Ala1295Asp) c.3752C>A (p.Ala1251Asp) c.3620C>A (p.Ala1207Asp) | |
20 | g.32436485C= | CA2360293729 | ASXL1 | c.3773C= (p.Ala1258=) c.3590C= (p.Ala1197=) n.6126C= c.1869+1904C= (n.1869+1904C=) c.3758C= (p.Ala1253=) c.3770C= (p.Ala1257=) c.3743C= (p.Ala1248=) c.3689C= (p.Ala1230=) c.3089C= (p.Ala1030=) c.4037C= (p.Ala1346=) c.4034C= (p.Ala1345=) c.3953C= (p.Ala1318=) c.3884C= (p.Ala1295=) c.3752C= (p.Ala1251=) c.3620C= (p.Ala1207=) | |
20 | g.32436485C>G | CA408563776 | ASXL1 | c.3773C>G (p.Ala1258Gly) c.3590C>G (p.Ala1197Gly) n.6126C>G c.1869+1904C>G (n.1869+1904C>G) c.3758C>G (p.Ala1253Gly) c.3770C>G (p.Ala1257Gly) c.3743C>G (p.Ala1248Gly) c.3689C>G (p.Ala1230Gly) c.3089C>G (p.Ala1030Gly) c.4037C>G (p.Ala1346Gly) c.4034C>G (p.Ala1345Gly) c.3953C>G (p.Ala1318Gly) c.3884C>G (p.Ala1295Gly) c.3752C>G (p.Ala1251Gly) c.3620C>G (p.Ala1207Gly) | |
20 | g.32436485C>T | CA313926361 | ASXL1 | c.3773C>T (p.Ala1258Val) c.3590C>T (p.Ala1197Val) n.6126C>T c.1869+1904C>T (n.1869+1904C>T) c.3758C>T (p.Ala1253Val) c.3770C>T (p.Ala1257Val) c.3743C>T (p.Ala1248Val) c.3689C>T (p.Ala1230Val) c.3089C>T (p.Ala1030Val) c.4037C>T (p.Ala1346Val) c.4034C>T (p.Ala1345Val) c.3953C>T (p.Ala1318Val) c.3884C>T (p.Ala1295Val) c.3752C>T (p.Ala1251Val) c.3620C>T (p.Ala1207Val) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436486T>A | CA510467665 | ASXL1 | c.3774T>A (p.Ala1258=) c.3591T>A (p.Ala1197=) n.6127T>A c.1869+1905T>A (n.1869+1905T>A) c.3759T>A (p.Ala1253=) c.3771T>A (p.Ala1257=) c.3744T>A (p.Ala1248=) c.3690T>A (p.Ala1230=) c.3090T>A (p.Ala1030=) c.4038T>A (p.Ala1346=) c.4035T>A (p.Ala1345=) c.3954T>A (p.Ala1318=) c.3885T>A (p.Ala1295=) c.3753T>A (p.Ala1251=) c.3621T>A (p.Ala1207=) | dbSNP |
20 | g.32436486T>C | CA510467666 | ASXL1 | c.3774T>C (p.Ala1258=) c.3591T>C (p.Ala1197=) n.6127T>C c.1869+1905T>C (n.1869+1905T>C) c.3759T>C (p.Ala1253=) c.3771T>C (p.Ala1257=) c.3744T>C (p.Ala1248=) c.3690T>C (p.Ala1230=) c.3090T>C (p.Ala1030=) c.4038T>C (p.Ala1346=) c.4035T>C (p.Ala1345=) c.3954T>C (p.Ala1318=) c.3885T>C (p.Ala1295=) c.3753T>C (p.Ala1251=) c.3621T>C (p.Ala1207=) | |
20 | g.32436486T>G | CA510467667 | ASXL1 | c.3774T>G (p.Ala1258=) c.3591T>G (p.Ala1197=) n.6127T>G c.1869+1905T>G (n.1869+1905T>G) c.3759T>G (p.Ala1253=) c.3771T>G (p.Ala1257=) c.3744T>G (p.Ala1248=) c.3690T>G (p.Ala1230=) c.3090T>G (p.Ala1030=) c.4038T>G (p.Ala1346=) c.4035T>G (p.Ala1345=) c.3954T>G (p.Ala1318=) c.3885T>G (p.Ala1295=) c.3753T>G (p.Ala1251=) c.3621T>G (p.Ala1207=) | |
20 | g.32436487C>A | CA408563777 | ASXL1 | c.3775C>A (p.Pro1259Thr) c.3592C>A (p.Pro1198Thr) n.6128C>A c.1869+1906C>A (n.1869+1906C>A) c.3760C>A (p.Pro1254Thr) c.3772C>A (p.Pro1258Thr) c.3745C>A (p.Pro1249Thr) c.3691C>A (p.Pro1231Thr) c.3091C>A (p.Pro1031Thr) c.4039C>A (p.Pro1347Thr) c.4036C>A (p.Pro1346Thr) c.3955C>A (p.Pro1319Thr) c.3886C>A (p.Pro1296Thr) c.3754C>A (p.Pro1252Thr) c.3622C>A (p.Pro1208Thr) | |
20 | g.32436487C= | CA2360293730 | ASXL1 | c.3775C= (p.Pro1259=) c.3592C= (p.Pro1198=) n.6128C= c.1869+1906C= (n.1869+1906C=) c.3760C= (p.Pro1254=) c.3772C= (p.Pro1258=) c.3745C= (p.Pro1249=) c.3691C= (p.Pro1231=) c.3091C= (p.Pro1031=) c.4039C= (p.Pro1347=) c.4036C= (p.Pro1346=) c.3955C= (p.Pro1319=) c.3886C= (p.Pro1296=) c.3754C= (p.Pro1252=) c.3622C= (p.Pro1208=) | |
20 | g.32436487C>G | CA408563778 | ASXL1 | c.3775C>G (p.Pro1259Ala) c.3592C>G (p.Pro1198Ala) n.6128C>G c.1869+1906C>G (n.1869+1906C>G) c.3760C>G (p.Pro1254Ala) c.3772C>G (p.Pro1258Ala) c.3745C>G (p.Pro1249Ala) c.3691C>G (p.Pro1231Ala) c.3091C>G (p.Pro1031Ala) c.4039C>G (p.Pro1347Ala) c.4036C>G (p.Pro1346Ala) c.3955C>G (p.Pro1319Ala) c.3886C>G (p.Pro1296Ala) c.3754C>G (p.Pro1252Ala) c.3622C>G (p.Pro1208Ala) | |
20 | g.32436487C>T | CA408563779 | ASXL1 | c.3775C>T (p.Pro1259Ser) c.3592C>T (p.Pro1198Ser) n.6128C>T c.1869+1906C>T (n.1869+1906C>T) c.3760C>T (p.Pro1254Ser) c.3772C>T (p.Pro1258Ser) c.3745C>T (p.Pro1249Ser) c.3691C>T (p.Pro1231Ser) c.3091C>T (p.Pro1031Ser) c.4039C>T (p.Pro1347Ser) c.4036C>T (p.Pro1346Ser) c.3955C>T (p.Pro1319Ser) c.3886C>T (p.Pro1296Ser) c.3754C>T (p.Pro1252Ser) c.3622C>T (p.Pro1208Ser) | dbSNP gnomAD v4 |
20 | g.32436488C>A | CA408563780 | ASXL1 | c.3776C>A (p.Pro1259Gln) c.3593C>A (p.Pro1198Gln) n.6129C>A c.1869+1907C>A (n.1869+1907C>A) c.3761C>A (p.Pro1254Gln) c.3773C>A (p.Pro1258Gln) c.3746C>A (p.Pro1249Gln) c.3692C>A (p.Pro1231Gln) c.3092C>A (p.Pro1031Gln) c.4040C>A (p.Pro1347Gln) c.4037C>A (p.Pro1346Gln) c.3956C>A (p.Pro1319Gln) c.3887C>A (p.Pro1296Gln) c.3755C>A (p.Pro1252Gln) c.3623C>A (p.Pro1208Gln) | |
20 | g.32436488C= | CA2360293731 | ASXL1 | c.3776C= (p.Pro1259=) c.3593C= (p.Pro1198=) n.6129C= c.1869+1907C= (n.1869+1907C=) c.3761C= (p.Pro1254=) c.3773C= (p.Pro1258=) c.3746C= (p.Pro1249=) c.3692C= (p.Pro1231=) c.3092C= (p.Pro1031=) c.4040C= (p.Pro1347=) c.4037C= (p.Pro1346=) c.3956C= (p.Pro1319=) c.3887C= (p.Pro1296=) c.3755C= (p.Pro1252=) c.3623C= (p.Pro1208=) | |
20 | g.32436488C>G | CA408563781 | ASXL1 | c.3776C>G (p.Pro1259Arg) c.3593C>G (p.Pro1198Arg) n.6129C>G c.1869+1907C>G (n.1869+1907C>G) c.3761C>G (p.Pro1254Arg) c.3773C>G (p.Pro1258Arg) c.3746C>G (p.Pro1249Arg) c.3692C>G (p.Pro1231Arg) c.3092C>G (p.Pro1031Arg) c.4040C>G (p.Pro1347Arg) c.4037C>G (p.Pro1346Arg) c.3956C>G (p.Pro1319Arg) c.3887C>G (p.Pro1296Arg) c.3755C>G (p.Pro1252Arg) c.3623C>G (p.Pro1208Arg) | |
20 | g.32436488C>T | CA9808897 | ASXL1 | c.3776C>T (p.Pro1259Leu) c.3593C>T (p.Pro1198Leu) n.6129C>T c.1869+1907C>T (n.1869+1907C>T) c.3761C>T (p.Pro1254Leu) c.3773C>T (p.Pro1258Leu) c.3746C>T (p.Pro1249Leu) c.3692C>T (p.Pro1231Leu) c.3092C>T (p.Pro1031Leu) c.4040C>T (p.Pro1347Leu) c.4037C>T (p.Pro1346Leu) c.3956C>T (p.Pro1319Leu) c.3887C>T (p.Pro1296Leu) c.3755C>T (p.Pro1252Leu) c.3623C>T (p.Pro1208Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.32436489A>C | CA510467670 | ASXL1 | c.3777A>C (p.Pro1259=) c.3594A>C (p.Pro1198=) n.6130A>C c.1869+1908A>C (n.1869+1908A>C) c.3762A>C (p.Pro1254=) c.3774A>C (p.Pro1258=) c.3747A>C (p.Pro1249=) c.3693A>C (p.Pro1231=) c.3093A>C (p.Pro1031=) c.4041A>C (p.Pro1347=) c.4038A>C (p.Pro1346=) c.3957A>C (p.Pro1319=) c.3888A>C (p.Pro1296=) c.3756A>C (p.Pro1252=) c.3624A>C (p.Pro1208=) | |
20 | g.32436489A>G | CA510467671 | ASXL1 | c.3777A>G (p.Pro1259=) c.3594A>G (p.Pro1198=) n.6130A>G c.1869+1908A>G (n.1869+1908A>G) c.3762A>G (p.Pro1254=) c.3774A>G (p.Pro1258=) c.3747A>G (p.Pro1249=) c.3693A>G (p.Pro1231=) c.3093A>G (p.Pro1031=) c.4041A>G (p.Pro1347=) c.4038A>G (p.Pro1346=) c.3957A>G (p.Pro1319=) c.3888A>G (p.Pro1296=) c.3756A>G (p.Pro1252=) c.3624A>G (p.Pro1208=) | |
20 | g.32436489A>T | CA510467672 | ASXL1 | c.3777A>T (p.Pro1259=) c.3594A>T (p.Pro1198=) n.6130A>T c.1869+1908A>T (n.1869+1908A>T) c.3762A>T (p.Pro1254=) c.3774A>T (p.Pro1258=) c.3747A>T (p.Pro1249=) c.3693A>T (p.Pro1231=) c.3093A>T (p.Pro1031=) c.4041A>T (p.Pro1347=) c.4038A>T (p.Pro1346=) c.3957A>T (p.Pro1319=) c.3888A>T (p.Pro1296=) c.3756A>T (p.Pro1252=) c.3624A>T (p.Pro1208=) | |
20 | g.32436490G>A | CA408563784 | ASXL1 | c.3778G>A (p.Gly1260Arg) c.3595G>A (p.Gly1199Arg) n.6131G>A c.1869+1909G>A (n.1869+1909G>A) c.3763G>A (p.Gly1255Arg) c.3775G>A (p.Gly1259Arg) c.3748G>A (p.Gly1250Arg) c.3694G>A (p.Gly1232Arg) c.3094G>A (p.Gly1032Arg) c.4042G>A (p.Gly1348Arg) c.4039G>A (p.Gly1347Arg) c.3958G>A (p.Gly1320Arg) c.3889G>A (p.Gly1297Arg) c.3757G>A (p.Gly1253Arg) c.3625G>A (p.Gly1209Arg) | gnomAD v4 |
20 | g.32436490G>C | CA408563783 | ASXL1 | c.3778G>C (p.Gly1260Arg) c.3595G>C (p.Gly1199Arg) n.6131G>C c.1869+1909G>C (n.1869+1909G>C) c.3763G>C (p.Gly1255Arg) c.3775G>C (p.Gly1259Arg) c.3748G>C (p.Gly1250Arg) c.3694G>C (p.Gly1232Arg) c.3094G>C (p.Gly1032Arg) c.4042G>C (p.Gly1348Arg) c.4039G>C (p.Gly1347Arg) c.3958G>C (p.Gly1320Arg) c.3889G>C (p.Gly1297Arg) c.3757G>C (p.Gly1253Arg) c.3625G>C (p.Gly1209Arg) | |
20 | g.32436490G>T | CA408563782 | ASXL1 | c.3778G>T (p.Gly1260Ter) c.3595G>T (p.Gly1199Ter) n.6131G>T c.1869+1909G>T (n.1869+1909G>T) c.3763G>T (p.Gly1255Ter) c.3775G>T (p.Gly1259Ter) c.3748G>T (p.Gly1250Ter) c.3694G>T (p.Gly1232Ter) c.3094G>T (p.Gly1032Ter) c.4042G>T (p.Gly1348Ter) c.4039G>T (p.Gly1347Ter) c.3958G>T (p.Gly1320Ter) c.3889G>T (p.Gly1297Ter) c.3757G>T (p.Gly1253Ter) c.3625G>T (p.Gly1209Ter) | |
20 | g.32436491G>A | CA408563785 | ASXL1 | c.3779G>A (p.Gly1260Glu) c.3596G>A (p.Gly1199Glu) n.6132G>A c.1869+1910G>A (n.1869+1910G>A) c.3764G>A (p.Gly1255Glu) c.3776G>A (p.Gly1259Glu) c.3749G>A (p.Gly1250Glu) c.3695G>A (p.Gly1232Glu) c.3095G>A (p.Gly1032Glu) c.4043G>A (p.Gly1348Glu) c.4040G>A (p.Gly1347Glu) c.3959G>A (p.Gly1320Glu) c.3890G>A (p.Gly1297Glu) c.3758G>A (p.Gly1253Glu) c.3626G>A (p.Gly1209Glu) | |
20 | g.32436491G>C | CA408563786 | ASXL1 | c.3779G>C (p.Gly1260Ala) c.3596G>C (p.Gly1199Ala) n.6132G>C c.1869+1910G>C (n.1869+1910G>C) c.3764G>C (p.Gly1255Ala) c.3776G>C (p.Gly1259Ala) c.3749G>C (p.Gly1250Ala) c.3695G>C (p.Gly1232Ala) c.3095G>C (p.Gly1032Ala) c.4043G>C (p.Gly1348Ala) c.4040G>C (p.Gly1347Ala) c.3959G>C (p.Gly1320Ala) c.3890G>C (p.Gly1297Ala) c.3758G>C (p.Gly1253Ala) c.3626G>C (p.Gly1209Ala) | gnomAD v4 COSMIC |
20 | g.32436491G>T | CA408563787 | ASXL1 | c.3779G>T (p.Gly1260Val) c.3596G>T (p.Gly1199Val) n.6132G>T c.1869+1910G>T (n.1869+1910G>T) c.3764G>T (p.Gly1255Val) c.3776G>T (p.Gly1259Val) c.3749G>T (p.Gly1250Val) c.3695G>T (p.Gly1232Val) c.3095G>T (p.Gly1032Val) c.4043G>T (p.Gly1348Val) c.4040G>T (p.Gly1347Val) c.3959G>T (p.Gly1320Val) c.3890G>T (p.Gly1297Val) c.3758G>T (p.Gly1253Val) c.3626G>T (p.Gly1209Val) | gnomAD v4 |
20 | g.32436492A= | CA2360293732 | ASXL1 | c.3780A= (p.Gly1260=) c.3597A= (p.Gly1199=) n.6133A= c.1869+1911A= (n.1869+1911A=) c.3765A= (p.Gly1255=) c.3777A= (p.Gly1259=) c.3750A= (p.Gly1250=) c.3696A= (p.Gly1232=) c.3096A= (p.Gly1032=) c.4044A= (p.Gly1348=) c.4041A= (p.Gly1347=) c.3960A= (p.Gly1320=) c.3891A= (p.Gly1297=) c.3759A= (p.Gly1253=) c.3627A= (p.Gly1209=) | |
20 | g.32436492A>C | CA9808898 | ASXL1 | c.3780A>C (p.Gly1260=) c.3597A>C (p.Gly1199=) n.6133A>C c.1869+1911A>C (n.1869+1911A>C) c.3765A>C (p.Gly1255=) c.3777A>C (p.Gly1259=) c.3750A>C (p.Gly1250=) c.3696A>C (p.Gly1232=) c.3096A>C (p.Gly1032=) c.4044A>C (p.Gly1348=) c.4041A>C (p.Gly1347=) c.3960A>C (p.Gly1320=) c.3891A>C (p.Gly1297=) c.3759A>C (p.Gly1253=) c.3627A>C (p.Gly1209=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436492A>G | CA313926362 | ASXL1 | c.3780A>G (p.Gly1260=) c.3597A>G (p.Gly1199=) n.6133A>G c.1869+1911A>G (n.1869+1911A>G) c.3765A>G (p.Gly1255=) c.3777A>G (p.Gly1259=) c.3750A>G (p.Gly1250=) c.3696A>G (p.Gly1232=) c.3096A>G (p.Gly1032=) c.4044A>G (p.Gly1348=) c.4041A>G (p.Gly1347=) c.3960A>G (p.Gly1320=) c.3891A>G (p.Gly1297=) c.3759A>G (p.Gly1253=) c.3627A>G (p.Gly1209=) | dbSNP gnomAD v2 |
20 | g.32436492A>T | CA510467673 | ASXL1 | c.3780A>T (p.Gly1260=) c.3597A>T (p.Gly1199=) n.6133A>T c.1869+1911A>T (n.1869+1911A>T) c.3765A>T (p.Gly1255=) c.3777A>T (p.Gly1259=) c.3750A>T (p.Gly1250=) c.3696A>T (p.Gly1232=) c.3096A>T (p.Gly1032=) c.4044A>T (p.Gly1348=) c.4041A>T (p.Gly1347=) c.3960A>T (p.Gly1320=) c.3891A>T (p.Gly1297=) c.3759A>T (p.Gly1253=) c.3627A>T (p.Gly1209=) | gnomAD v4 |
20 | g.32436493A= | CA2360293733 | ASXL1 | c.3781A= (p.Lys1261=) c.3598A= (p.Lys1200=) n.6134A= c.1869+1912A= (n.1869+1912A=) c.3766A= (p.Lys1256=) c.3778A= (p.Lys1260=) c.3751A= (p.Lys1251=) c.3697A= (p.Lys1233=) c.3097A= (p.Lys1033=) c.4045A= (p.Lys1349=) c.4042A= (p.Lys1348=) c.3961A= (p.Lys1321=) c.3892A= (p.Lys1298=) c.3760A= (p.Lys1254=) c.3628A= (p.Lys1210=) | |
20 | g.32436493A>C | CA408563788 | ASXL1 | c.3781A>C (p.Lys1261Gln) c.3598A>C (p.Lys1200Gln) n.6134A>C c.1869+1912A>C (n.1869+1912A>C) c.3766A>C (p.Lys1256Gln) c.3778A>C (p.Lys1260Gln) c.3751A>C (p.Lys1251Gln) c.3697A>C (p.Lys1233Gln) c.3097A>C (p.Lys1033Gln) c.4045A>C (p.Lys1349Gln) c.4042A>C (p.Lys1348Gln) c.3961A>C (p.Lys1321Gln) c.3892A>C (p.Lys1298Gln) c.3760A>C (p.Lys1254Gln) c.3628A>C (p.Lys1210Gln) | |
20 | g.32436493A>G | CA408563789 | ASXL1 | c.3781A>G (p.Lys1261Glu) c.3598A>G (p.Lys1200Glu) n.6134A>G c.1869+1912A>G (n.1869+1912A>G) c.3766A>G (p.Lys1256Glu) c.3778A>G (p.Lys1260Glu) c.3751A>G (p.Lys1251Glu) c.3697A>G (p.Lys1233Glu) c.3097A>G (p.Lys1033Glu) c.4045A>G (p.Lys1349Glu) c.4042A>G (p.Lys1348Glu) c.3961A>G (p.Lys1321Glu) c.3892A>G (p.Lys1298Glu) c.3760A>G (p.Lys1254Glu) c.3628A>G (p.Lys1210Glu) | dbSNP |
20 | g.32436493A>T | CA408563790 | ASXL1 | c.3781A>T (p.Lys1261Ter) c.3598A>T (p.Lys1200Ter) n.6134A>T c.1869+1912A>T (n.1869+1912A>T) c.3766A>T (p.Lys1256Ter) c.3778A>T (p.Lys1260Ter) c.3751A>T (p.Lys1251Ter) c.3697A>T (p.Lys1233Ter) c.3097A>T (p.Lys1033Ter) c.4045A>T (p.Lys1349Ter) c.4042A>T (p.Lys1348Ter) c.3961A>T (p.Lys1321Ter) c.3892A>T (p.Lys1298Ter) c.3760A>T (p.Lys1254Ter) c.3628A>T (p.Lys1210Ter) | |
20 | g.32436493_32436495delinsAAG | CA2360293734 | ASXL1 | c.3781_3783delinsAAG (p.Lys1261=) c.3598_3600delinsAAG (p.Lys1200=) n.6134_6136delinsAAG c.1869+1912_1869+1914delinsAAG (n.1869+1912_1869+1914delinsAAG) c.3766_3768delinsAAG (p.Lys1256=) c.3778_3780delinsAAG (p.Lys1260=) c.3751_3753delinsAAG (p.Lys1251=) c.3697_3699delinsAAG (p.Lys1233=) c.3097_3099delinsAAG (p.Lys1033=) c.4045_4047delinsAAG (p.Lys1349=) c.4042_4044delinsAAG (p.Lys1348=) c.3961_3963delinsAAG (p.Lys1321=) c.3892_3894delinsAAG (p.Lys1298=) c.3760_3762delinsAAG (p.Lys1254=) c.3628_3630delinsAAG (p.Lys1210=) | |
20 | g.32436494A= | CA2360293736 | ASXL1 | c.3782A= (p.Lys1261=) c.3599A= (p.Lys1200=) n.6135A= c.1869+1913A= (n.1869+1913A=) c.3767A= (p.Lys1256=) c.3779A= (p.Lys1260=) c.3752A= (p.Lys1251=) c.3698A= (p.Lys1233=) c.3098A= (p.Lys1033=) c.4046A= (p.Lys1349=) c.4043A= (p.Lys1348=) c.3962A= (p.Lys1321=) c.3893A= (p.Lys1298=) c.3761A= (p.Lys1254=) c.3629A= (p.Lys1210=) | |
20 | g.32436494A>C | CA408563791 | ASXL1 | c.3782A>C (p.Lys1261Thr) c.3599A>C (p.Lys1200Thr) n.6135A>C c.1869+1913A>C (n.1869+1913A>C) c.3767A>C (p.Lys1256Thr) c.3779A>C (p.Lys1260Thr) c.3752A>C (p.Lys1251Thr) c.3698A>C (p.Lys1233Thr) c.3098A>C (p.Lys1033Thr) c.4046A>C (p.Lys1349Thr) c.4043A>C (p.Lys1348Thr) c.3962A>C (p.Lys1321Thr) c.3893A>C (p.Lys1298Thr) c.3761A>C (p.Lys1254Thr) c.3629A>C (p.Lys1210Thr) | |
20 | g.32436494A>G | CA9808899 | ASXL1 | c.3782A>G (p.Lys1261Arg) c.3599A>G (p.Lys1200Arg) n.6135A>G c.1869+1913A>G (n.1869+1913A>G) c.3767A>G (p.Lys1256Arg) c.3779A>G (p.Lys1260Arg) c.3752A>G (p.Lys1251Arg) c.3698A>G (p.Lys1233Arg) c.3098A>G (p.Lys1033Arg) c.4046A>G (p.Lys1349Arg) c.4043A>G (p.Lys1348Arg) c.3962A>G (p.Lys1321Arg) c.3893A>G (p.Lys1298Arg) c.3761A>G (p.Lys1254Arg) c.3629A>G (p.Lys1210Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436494A>T | CA408563792 | ASXL1 | c.3782A>T (p.Lys1261Met) c.3599A>T (p.Lys1200Met) n.6135A>T c.1869+1913A>T (n.1869+1913A>T) c.3767A>T (p.Lys1256Met) c.3779A>T (p.Lys1260Met) c.3752A>T (p.Lys1251Met) c.3698A>T (p.Lys1233Met) c.3098A>T (p.Lys1033Met) c.4046A>T (p.Lys1349Met) c.4043A>T (p.Lys1348Met) c.3962A>T (p.Lys1321Met) c.3893A>T (p.Lys1298Met) c.3761A>T (p.Lys1254Met) c.3629A>T (p.Lys1210Met) | |
20 | g.32436496_32436497del | CA2360293735 | ASXL1 | c.3784_3785del (p.Ser1262ProfsTer?) c.3601_3602del (p.Ser1201ProfsTer?) n.6137_6138del c.1869+1915_1869+1916del (n.1869+1915_1869+1916del) c.3769_3770del (p.Ser1257ProfsTer?) c.3781_3782del (p.Ser1261ProfsTer?) c.3754_3755del (p.Ser1252ProfsTer?) c.3700_3701del (p.Ser1234ProfsTer?) c.3100_3101del (p.Ser1034ProfsTer?) c.4048_4049del (p.Ser1350ProfsTer?) c.4045_4046del (p.Ser1349ProfsTer?) c.3964_3965del (p.Ser1322ProfsTer?) c.3895_3896del (p.Ser1299ProfsTer?) c.3763_3764del (p.Ser1255ProfsTer?) c.3631_3632del (p.Ser1211ProfsTer?) | dbSNP |
20 | g.32436495G>A | CA510467677 | ASXL1 | c.3783G>A (p.Lys1261=) c.3600G>A (p.Lys1200=) n.6136G>A c.1869+1914G>A (n.1869+1914G>A) c.3768G>A (p.Lys1256=) c.3780G>A (p.Lys1260=) c.3753G>A (p.Lys1251=) c.3699G>A (p.Lys1233=) c.3099G>A (p.Lys1033=) c.4047G>A (p.Lys1349=) c.4044G>A (p.Lys1348=) c.3963G>A (p.Lys1321=) c.3894G>A (p.Lys1298=) c.3762G>A (p.Lys1254=) c.3630G>A (p.Lys1210=) | |
20 | g.32436495G>C | CA408563793 | ASXL1 | c.3783G>C (p.Lys1261Asn) c.3600G>C (p.Lys1200Asn) n.6136G>C c.1869+1914G>C (n.1869+1914G>C) c.3768G>C (p.Lys1256Asn) c.3780G>C (p.Lys1260Asn) c.3753G>C (p.Lys1251Asn) c.3699G>C (p.Lys1233Asn) c.3099G>C (p.Lys1033Asn) c.4047G>C (p.Lys1349Asn) c.4044G>C (p.Lys1348Asn) c.3963G>C (p.Lys1321Asn) c.3894G>C (p.Lys1298Asn) c.3762G>C (p.Lys1254Asn) c.3630G>C (p.Lys1210Asn) | gnomAD v4 |
20 | g.32436495G>T | CA408563794 | ASXL1 | c.3783G>T (p.Lys1261Asn) c.3600G>T (p.Lys1200Asn) n.6136G>T c.1869+1914G>T (n.1869+1914G>T) c.3768G>T (p.Lys1256Asn) c.3780G>T (p.Lys1260Asn) c.3753G>T (p.Lys1251Asn) c.3699G>T (p.Lys1233Asn) c.3099G>T (p.Lys1033Asn) c.4047G>T (p.Lys1349Asn) c.4044G>T (p.Lys1348Asn) c.3963G>T (p.Lys1321Asn) c.3894G>T (p.Lys1298Asn) c.3762G>T (p.Lys1254Asn) c.3630G>T (p.Lys1210Asn) | |
20 | g.32436496A>C | CA408563795 | ASXL1 | c.3784A>C (p.Ser1262Arg) c.3601A>C (p.Ser1201Arg) n.6137A>C c.1869+1915A>C (n.1869+1915A>C) c.3769A>C (p.Ser1257Arg) c.3781A>C (p.Ser1261Arg) c.3754A>C (p.Ser1252Arg) c.3700A>C (p.Ser1234Arg) c.3100A>C (p.Ser1034Arg) c.4048A>C (p.Ser1350Arg) c.4045A>C (p.Ser1349Arg) c.3964A>C (p.Ser1322Arg) c.3895A>C (p.Ser1299Arg) c.3763A>C (p.Ser1255Arg) c.3631A>C (p.Ser1211Arg) | |
20 | g.32436496A>G | CA408563797 | ASXL1 | c.3784A>G (p.Ser1262Gly) c.3601A>G (p.Ser1201Gly) n.6137A>G c.1869+1915A>G (n.1869+1915A>G) c.3769A>G (p.Ser1257Gly) c.3781A>G (p.Ser1261Gly) c.3754A>G (p.Ser1252Gly) c.3700A>G (p.Ser1234Gly) c.3100A>G (p.Ser1034Gly) c.4048A>G (p.Ser1350Gly) c.4045A>G (p.Ser1349Gly) c.3964A>G (p.Ser1322Gly) c.3895A>G (p.Ser1299Gly) c.3763A>G (p.Ser1255Gly) c.3631A>G (p.Ser1211Gly) | |
20 | g.32436496A>T | CA408563796 | ASXL1 | c.3784A>T (p.Ser1262Cys) c.3601A>T (p.Ser1201Cys) n.6137A>T c.1869+1915A>T (n.1869+1915A>T) c.3769A>T (p.Ser1257Cys) c.3781A>T (p.Ser1261Cys) c.3754A>T (p.Ser1252Cys) c.3700A>T (p.Ser1234Cys) c.3100A>T (p.Ser1034Cys) c.4048A>T (p.Ser1350Cys) c.4045A>T (p.Ser1349Cys) c.3964A>T (p.Ser1322Cys) c.3895A>T (p.Ser1299Cys) c.3763A>T (p.Ser1255Cys) c.3631A>T (p.Ser1211Cys) | |
20 | g.32436497G>A | CA408563798 | ASXL1 | c.3785G>A (p.Ser1262Asn) c.3602G>A (p.Ser1201Asn) n.6138G>A c.1869+1916G>A (n.1869+1916G>A) c.3770G>A (p.Ser1257Asn) c.3782G>A (p.Ser1261Asn) c.3755G>A (p.Ser1252Asn) c.3701G>A (p.Ser1234Asn) c.3101G>A (p.Ser1034Asn) c.4049G>A (p.Ser1350Asn) c.4046G>A (p.Ser1349Asn) c.3965G>A (p.Ser1322Asn) c.3896G>A (p.Ser1299Asn) c.3764G>A (p.Ser1255Asn) c.3632G>A (p.Ser1211Asn) | |
20 | g.32436497G>C | CA408563800 | ASXL1 | c.3785G>C (p.Ser1262Thr) c.3602G>C (p.Ser1201Thr) n.6138G>C c.1869+1916G>C (n.1869+1916G>C) c.3770G>C (p.Ser1257Thr) c.3782G>C (p.Ser1261Thr) c.3755G>C (p.Ser1252Thr) c.3701G>C (p.Ser1234Thr) c.3101G>C (p.Ser1034Thr) c.4049G>C (p.Ser1350Thr) c.4046G>C (p.Ser1349Thr) c.3965G>C (p.Ser1322Thr) c.3896G>C (p.Ser1299Thr) c.3764G>C (p.Ser1255Thr) c.3632G>C (p.Ser1211Thr) | dbSNP gnomAD v4 |
20 | g.32436497G= | CA2360293737 | ASXL1 | c.3785G= (p.Ser1262=) c.3602G= (p.Ser1201=) n.6138G= c.1869+1916G= (n.1869+1916G=) c.3770G= (p.Ser1257=) c.3782G= (p.Ser1261=) c.3755G= (p.Ser1252=) c.3701G= (p.Ser1234=) c.3101G= (p.Ser1034=) c.4049G= (p.Ser1350=) c.4046G= (p.Ser1349=) c.3965G= (p.Ser1322=) c.3896G= (p.Ser1299=) c.3764G= (p.Ser1255=) c.3632G= (p.Ser1211=) | |
20 | g.32436497G>T | CA408563799 | ASXL1 | c.3785G>T (p.Ser1262Ile) c.3602G>T (p.Ser1201Ile) n.6138G>T c.1869+1916G>T (n.1869+1916G>T) c.3770G>T (p.Ser1257Ile) c.3782G>T (p.Ser1261Ile) c.3755G>T (p.Ser1252Ile) c.3701G>T (p.Ser1234Ile) c.3101G>T (p.Ser1034Ile) c.4049G>T (p.Ser1350Ile) c.4046G>T (p.Ser1349Ile) c.3965G>T (p.Ser1322Ile) c.3896G>T (p.Ser1299Ile) c.3764G>T (p.Ser1255Ile) c.3632G>T (p.Ser1211Ile) | ClinVar dbSNP gnomAD v4 |
20 | g.32436498C>A | CA408563801 | ASXL1 | c.3786C>A (p.Ser1262Arg) c.3603C>A (p.Ser1201Arg) n.6139C>A c.1869+1917C>A (n.1869+1917C>A) c.3771C>A (p.Ser1257Arg) c.3783C>A (p.Ser1261Arg) c.3756C>A (p.Ser1252Arg) c.3702C>A (p.Ser1234Arg) c.3102C>A (p.Ser1034Arg) c.4050C>A (p.Ser1350Arg) c.4047C>A (p.Ser1349Arg) c.3966C>A (p.Ser1322Arg) c.3897C>A (p.Ser1299Arg) c.3765C>A (p.Ser1255Arg) c.3633C>A (p.Ser1211Arg) | |
20 | g.32436498C= | CA2360293738 | ASXL1 | c.3786C= (p.Ser1262=) c.3603C= (p.Ser1201=) n.6139C= c.1869+1917C= (n.1869+1917C=) c.3771C= (p.Ser1257=) c.3783C= (p.Ser1261=) c.3756C= (p.Ser1252=) c.3702C= (p.Ser1234=) c.3102C= (p.Ser1034=) c.4050C= (p.Ser1350=) c.4047C= (p.Ser1349=) c.3966C= (p.Ser1322=) c.3897C= (p.Ser1299=) c.3765C= (p.Ser1255=) c.3633C= (p.Ser1211=) | |
20 | g.32436498C>G | CA408563802 | ASXL1 | c.3786C>G (p.Ser1262Arg) c.3603C>G (p.Ser1201Arg) n.6139C>G c.1869+1917C>G (n.1869+1917C>G) c.3771C>G (p.Ser1257Arg) c.3783C>G (p.Ser1261Arg) c.3756C>G (p.Ser1252Arg) c.3702C>G (p.Ser1234Arg) c.3102C>G (p.Ser1034Arg) c.4050C>G (p.Ser1350Arg) c.4047C>G (p.Ser1349Arg) c.3966C>G (p.Ser1322Arg) c.3897C>G (p.Ser1299Arg) c.3765C>G (p.Ser1255Arg) c.3633C>G (p.Ser1211Arg) | dbSNP |
20 | g.32436498C>T | CA9808900 | ASXL1 | c.3786C>T (p.Ser1262=) c.3603C>T (p.Ser1201=) n.6139C>T c.1869+1917C>T (n.1869+1917C>T) c.3771C>T (p.Ser1257=) c.3783C>T (p.Ser1261=) c.3756C>T (p.Ser1252=) c.3702C>T (p.Ser1234=) c.3102C>T (p.Ser1034=) c.4050C>T (p.Ser1350=) c.4047C>T (p.Ser1349=) c.3966C>T (p.Ser1322=) c.3897C>T (p.Ser1299=) c.3765C>T (p.Ser1255=) c.3633C>T (p.Ser1211=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
20 | g.32436500del | CA510467680 | ASXL1 | c.3788del (p.Pro1263GlnfsTer17) c.3605del (p.Pro1202GlnfsTer17) n.6141del c.1869+1919del (n.1869+1919del) c.3773del (p.Pro1258GlnfsTer17) c.3785del (p.Pro1262GlnfsTer17) c.3758del (p.Pro1253GlnfsTer17) c.3704del (p.Pro1235GlnfsTer17) c.3104del (p.Pro1035GlnfsTer17) c.4052del (p.Pro1351GlnfsTer17) c.4049del (p.Pro1350GlnfsTer17) c.3968del (p.Pro1323GlnfsTer17) c.3899del (p.Pro1300GlnfsTer17) c.3767del (p.Pro1256GlnfsTer17) c.3635del (p.Pro1212GlnfsTer17) | COSMIC |
20 | g.32436499C>A | CA408563803 | ASXL1 | c.3787C>A (p.Pro1263Thr) c.3604C>A (p.Pro1202Thr) n.6140C>A c.1869+1918C>A (n.1869+1918C>A) c.3772C>A (p.Pro1258Thr) c.3784C>A (p.Pro1262Thr) c.3757C>A (p.Pro1253Thr) c.3703C>A (p.Pro1235Thr) c.3103C>A (p.Pro1035Thr) c.4051C>A (p.Pro1351Thr) c.4048C>A (p.Pro1350Thr) c.3967C>A (p.Pro1323Thr) c.3898C>A (p.Pro1300Thr) c.3766C>A (p.Pro1256Thr) c.3634C>A (p.Pro1212Thr) | |
20 | g.32436499C>G | CA408563804 | ASXL1 | c.3787C>G (p.Pro1263Ala) c.3604C>G (p.Pro1202Ala) n.6140C>G c.1869+1918C>G (n.1869+1918C>G) c.3772C>G (p.Pro1258Ala) c.3784C>G (p.Pro1262Ala) c.3757C>G (p.Pro1253Ala) c.3703C>G (p.Pro1235Ala) c.3103C>G (p.Pro1035Ala) c.4051C>G (p.Pro1351Ala) c.4048C>G (p.Pro1350Ala) c.3967C>G (p.Pro1323Ala) c.3898C>G (p.Pro1300Ala) c.3766C>G (p.Pro1256Ala) c.3634C>G (p.Pro1212Ala) | |
20 | g.32436499C>T | CA408563805 | ASXL1 | c.3787C>T (p.Pro1263Ser) c.3604C>T (p.Pro1202Ser) n.6140C>T c.1869+1918C>T (n.1869+1918C>T) c.3772C>T (p.Pro1258Ser) c.3784C>T (p.Pro1262Ser) c.3757C>T (p.Pro1253Ser) c.3703C>T (p.Pro1235Ser) c.3103C>T (p.Pro1035Ser) c.4051C>T (p.Pro1351Ser) c.4048C>T (p.Pro1350Ser) c.3967C>T (p.Pro1323Ser) c.3898C>T (p.Pro1300Ser) c.3766C>T (p.Pro1256Ser) c.3634C>T (p.Pro1212Ser) | |
20 | g.32436500C>A | CA408563806 | ASXL1 | c.3788C>A (p.Pro1263Gln) c.3605C>A (p.Pro1202Gln) n.6141C>A c.1869+1919C>A (n.1869+1919C>A) c.3773C>A (p.Pro1258Gln) c.3785C>A (p.Pro1262Gln) c.3758C>A (p.Pro1253Gln) c.3704C>A (p.Pro1235Gln) c.3104C>A (p.Pro1035Gln) c.4052C>A (p.Pro1351Gln) c.4049C>A (p.Pro1350Gln) c.3968C>A (p.Pro1323Gln) c.3899C>A (p.Pro1300Gln) c.3767C>A (p.Pro1256Gln) c.3635C>A (p.Pro1212Gln) | |
20 | g.32436500C>G | CA408563807 | ASXL1 | c.3788C>G (p.Pro1263Arg) c.3605C>G (p.Pro1202Arg) n.6141C>G c.1869+1919C>G (n.1869+1919C>G) c.3773C>G (p.Pro1258Arg) c.3785C>G (p.Pro1262Arg) c.3758C>G (p.Pro1253Arg) c.3704C>G (p.Pro1235Arg) c.3104C>G (p.Pro1035Arg) c.4052C>G (p.Pro1351Arg) c.4049C>G (p.Pro1350Arg) c.3968C>G (p.Pro1323Arg) c.3899C>G (p.Pro1300Arg) c.3767C>G (p.Pro1256Arg) c.3635C>G (p.Pro1212Arg) | gnomAD v4 |
20 | g.32436500C>T | CA408563808 | ASXL1 | c.3788C>T (p.Pro1263Leu) c.3605C>T (p.Pro1202Leu) n.6141C>T c.1869+1919C>T (n.1869+1919C>T) c.3773C>T (p.Pro1258Leu) c.3785C>T (p.Pro1262Leu) c.3758C>T (p.Pro1253Leu) c.3704C>T (p.Pro1235Leu) c.3104C>T (p.Pro1035Leu) c.4052C>T (p.Pro1351Leu) c.4049C>T (p.Pro1350Leu) c.3968C>T (p.Pro1323Leu) c.3899C>T (p.Pro1300Leu) c.3767C>T (p.Pro1256Leu) c.3635C>T (p.Pro1212Leu) | dbSNP |
20 | g.32436500_32436503delinsCAGG | CA2360293739 | ASXL1 | c.3788_3791delinsCAGG (p.Pro1263=) c.3605_3608delinsCAGG (p.Pro1202=) n.6141_6144delinsCAGG c.1869+1919_1869+1922delinsCAGG (n.1869+1919_1869+1922delinsCAGG) c.3773_3776delinsCAGG (p.Pro1258=) c.3785_3788delinsCAGG (p.Pro1262=) c.3758_3761delinsCAGG (p.Pro1253=) c.3704_3707delinsCAGG (p.Pro1235=) c.3104_3107delinsCAGG (p.Pro1035=) c.4052_4055delinsCAGG (p.Pro1351=) c.4049_4052delinsCAGG (p.Pro1350=) c.3968_3971delinsCAGG (p.Pro1323=) c.3899_3902delinsCAGG (p.Pro1300=) c.3767_3770delinsCAGG (p.Pro1256=) c.3635_3638delinsCAGG (p.Pro1212=) | |
20 | g.32436501A= | CA2360293740 | ASXL1 | c.3789A= (p.Pro1263=) c.3606A= (p.Pro1202=) n.6142A= c.1869+1920A= (n.1869+1920A=) c.3774A= (p.Pro1258=) c.3786A= (p.Pro1262=) c.3759A= (p.Pro1253=) c.3705A= (p.Pro1235=) c.3105A= (p.Pro1035=) c.4053A= (p.Pro1351=) c.4050A= (p.Pro1350=) c.3969A= (p.Pro1323=) c.3900A= (p.Pro1300=) c.3768A= (p.Pro1256=) c.3636A= (p.Pro1212=) | |
20 | g.32436501A>C | CA510467681 | ASXL1 | c.3789A>C (p.Pro1263=) c.3606A>C (p.Pro1202=) n.6142A>C c.1869+1920A>C (n.1869+1920A>C) c.3774A>C (p.Pro1258=) c.3786A>C (p.Pro1262=) c.3759A>C (p.Pro1253=) c.3705A>C (p.Pro1235=) c.3105A>C (p.Pro1035=) c.4053A>C (p.Pro1351=) c.4050A>C (p.Pro1350=) c.3969A>C (p.Pro1323=) c.3900A>C (p.Pro1300=) c.3768A>C (p.Pro1256=) c.3636A>C (p.Pro1212=) | |
20 | g.32436501A>G | CA9808901 | ASXL1 | c.3789A>G (p.Pro1263=) c.3606A>G (p.Pro1202=) n.6142A>G c.1869+1920A>G (n.1869+1920A>G) c.3774A>G (p.Pro1258=) c.3786A>G (p.Pro1262=) c.3759A>G (p.Pro1253=) c.3705A>G (p.Pro1235=) c.3105A>G (p.Pro1035=) c.4053A>G (p.Pro1351=) c.4050A>G (p.Pro1350=) c.3969A>G (p.Pro1323=) c.3900A>G (p.Pro1300=) c.3768A>G (p.Pro1256=) c.3636A>G (p.Pro1212=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436501A>T | CA510467683 | ASXL1 | c.3789A>T (p.Pro1263=) c.3606A>T (p.Pro1202=) n.6142A>T c.1869+1920A>T (n.1869+1920A>T) c.3774A>T (p.Pro1258=) c.3786A>T (p.Pro1262=) c.3759A>T (p.Pro1253=) c.3705A>T (p.Pro1235=) c.3105A>T (p.Pro1035=) c.4053A>T (p.Pro1351=) c.4050A>T (p.Pro1350=) c.3969A>T (p.Pro1323=) c.3900A>T (p.Pro1300=) c.3768A>T (p.Pro1256=) c.3636A>T (p.Pro1212=) | |
20 | g.32436503_32436505del | CA313926363 | ASXL1 | c.3791_3793del (p.Gly1264del) c.3608_3610del (p.Gly1203del) n.6144_6146del c.1869+1922_1870-1925del (n.1869+1922_1870-1925del) c.3776_3778del (p.Gly1259del) c.3788_3790del (p.Gly1263del) c.3761_3763del (p.Gly1254del) c.3707_3709del (p.Gly1236del) c.3107_3109del (p.Gly1036del) c.4055_4057del (p.Gly1352del) c.4052_4054del (p.Gly1351del) c.3971_3973del (p.Gly1324del) c.3902_3904del (p.Gly1301del) c.3770_3772del (p.Gly1257del) c.3638_3640del (p.Gly1213del) | dbSNP |
20 | g.32436502G>A | CA9808902 | ASXL1 | c.3790G>A (p.Gly1264Arg) c.3607G>A (p.Gly1203Arg) n.6143G>A c.1869+1921G>A (n.1869+1921G>A) c.3775G>A (p.Gly1259Arg) c.3787G>A (p.Gly1263Arg) c.3760G>A (p.Gly1254Arg) c.3706G>A (p.Gly1236Arg) c.3106G>A (p.Gly1036Arg) c.4054G>A (p.Gly1352Arg) c.4051G>A (p.Gly1351Arg) c.3970G>A (p.Gly1324Arg) c.3901G>A (p.Gly1301Arg) c.3769G>A (p.Gly1257Arg) c.3637G>A (p.Gly1213Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436502G>C | CA408563810 | ASXL1 | c.3790G>C (p.Gly1264Arg) c.3607G>C (p.Gly1203Arg) n.6143G>C c.1869+1921G>C (n.1869+1921G>C) c.3775G>C (p.Gly1259Arg) c.3787G>C (p.Gly1263Arg) c.3760G>C (p.Gly1254Arg) c.3706G>C (p.Gly1236Arg) c.3106G>C (p.Gly1036Arg) c.4054G>C (p.Gly1352Arg) c.4051G>C (p.Gly1351Arg) c.3970G>C (p.Gly1324Arg) c.3901G>C (p.Gly1301Arg) c.3769G>C (p.Gly1257Arg) c.3637G>C (p.Gly1213Arg) | |
20 | g.32436502G= | CA2360293741 | ASXL1 | c.3790G= (p.Gly1264=) c.3607G= (p.Gly1203=) n.6143G= c.1869+1921G= (n.1869+1921G=) c.3775G= (p.Gly1259=) c.3787G= (p.Gly1263=) c.3760G= (p.Gly1254=) c.3706G= (p.Gly1236=) c.3106G= (p.Gly1036=) c.4054G= (p.Gly1352=) c.4051G= (p.Gly1351=) c.3970G= (p.Gly1324=) c.3901G= (p.Gly1301=) c.3769G= (p.Gly1257=) c.3637G= (p.Gly1213=) | |
20 | g.32436502G>T | CA408563809 | ASXL1 | c.3790G>T (p.Gly1264Ter) c.3607G>T (p.Gly1203Ter) n.6143G>T c.1869+1921G>T (n.1869+1921G>T) c.3775G>T (p.Gly1259Ter) c.3787G>T (p.Gly1263Ter) c.3760G>T (p.Gly1254Ter) c.3706G>T (p.Gly1236Ter) c.3106G>T (p.Gly1036Ter) c.4054G>T (p.Gly1352Ter) c.4051G>T (p.Gly1351Ter) c.3970G>T (p.Gly1324Ter) c.3901G>T (p.Gly1301Ter) c.3769G>T (p.Gly1257Ter) c.3637G>T (p.Gly1213Ter) | |
20 | g.32436503del | CA2577366322 | ASXL1 | c.3791del (p.Gly1264GlufsTer16) c.3608del (p.Gly1203GlufsTer16) n.6144del c.1869+1922del (n.1869+1922del) c.3776del (p.Gly1259GlufsTer16) c.3788del (p.Gly1263GlufsTer16) c.3761del (p.Gly1254GlufsTer16) c.3707del (p.Gly1236GlufsTer16) c.3107del (p.Gly1036GlufsTer16) c.4055del (p.Gly1352GlufsTer16) c.4052del (p.Gly1351GlufsTer16) c.3971del (p.Gly1324GlufsTer16) c.3902del (p.Gly1301GlufsTer16) c.3770del (p.Gly1257GlufsTer16) c.3638del (p.Gly1213GlufsTer16) | |
20 | g.32436503G>A | CA408563811 | ASXL1 | c.3791G>A (p.Gly1264Glu) c.3608G>A (p.Gly1203Glu) n.6144G>A c.1869+1922G>A (n.1869+1922G>A) c.3776G>A (p.Gly1259Glu) c.3788G>A (p.Gly1263Glu) c.3761G>A (p.Gly1254Glu) c.3707G>A (p.Gly1236Glu) c.3107G>A (p.Gly1036Glu) c.4055G>A (p.Gly1352Glu) c.4052G>A (p.Gly1351Glu) c.3971G>A (p.Gly1324Glu) c.3902G>A (p.Gly1301Glu) c.3770G>A (p.Gly1257Glu) c.3638G>A (p.Gly1213Glu) | |
20 | g.32436503G>C | CA408563812 | ASXL1 | c.3791G>C (p.Gly1264Ala) c.3608G>C (p.Gly1203Ala) n.6144G>C c.1869+1922G>C (n.1869+1922G>C) c.3776G>C (p.Gly1259Ala) c.3788G>C (p.Gly1263Ala) c.3761G>C (p.Gly1254Ala) c.3707G>C (p.Gly1236Ala) c.3107G>C (p.Gly1036Ala) c.4055G>C (p.Gly1352Ala) c.4052G>C (p.Gly1351Ala) c.3971G>C (p.Gly1324Ala) c.3902G>C (p.Gly1301Ala) c.3770G>C (p.Gly1257Ala) c.3638G>C (p.Gly1213Ala) | dbSNP |
20 | g.32436503G>T | CA408563813 | ASXL1 | c.3791G>T (p.Gly1264Val) c.3608G>T (p.Gly1203Val) n.6144G>T c.1869+1922G>T (n.1869+1922G>T) c.3776G>T (p.Gly1259Val) c.3788G>T (p.Gly1263Val) c.3761G>T (p.Gly1254Val) c.3707G>T (p.Gly1236Val) c.3107G>T (p.Gly1036Val) c.4055G>T (p.Gly1352Val) c.4052G>T (p.Gly1351Val) c.3971G>T (p.Gly1324Val) c.3902G>T (p.Gly1301Val) c.3770G>T (p.Gly1257Val) c.3638G>T (p.Gly1213Val) | |
20 | g.32436504A>C | CA510467687 | ASXL1 | c.3792A>C (p.Gly1264=) c.3609A>C (p.Gly1203=) n.6145A>C c.1869+1923A>C (n.1869+1923A>C) c.3777A>C (p.Gly1259=) c.3789A>C (p.Gly1263=) c.3762A>C (p.Gly1254=) c.3708A>C (p.Gly1236=) c.3108A>C (p.Gly1036=) c.4056A>C (p.Gly1352=) c.4053A>C (p.Gly1351=) c.3972A>C (p.Gly1324=) c.3903A>C (p.Gly1301=) c.3771A>C (p.Gly1257=) c.3639A>C (p.Gly1213=) | |
20 | g.32436504A>G | CA510467685 | ASXL1 | c.3792A>G (p.Gly1264=) c.3609A>G (p.Gly1203=) n.6145A>G c.1869+1923A>G (n.1869+1923A>G) c.3777A>G (p.Gly1259=) c.3789A>G (p.Gly1263=) c.3762A>G (p.Gly1254=) c.3708A>G (p.Gly1236=) c.3108A>G (p.Gly1036=) c.4056A>G (p.Gly1352=) c.4053A>G (p.Gly1351=) c.3972A>G (p.Gly1324=) c.3903A>G (p.Gly1301=) c.3771A>G (p.Gly1257=) c.3639A>G (p.Gly1213=) | |
20 | g.32436504A>T | CA510467684 | ASXL1 | c.3792A>T (p.Gly1264=) c.3609A>T (p.Gly1203=) n.6145A>T c.1869+1923A>T (n.1869+1923A>T) c.3777A>T (p.Gly1259=) c.3789A>T (p.Gly1263=) c.3762A>T (p.Gly1254=) c.3708A>T (p.Gly1236=) c.3108A>T (p.Gly1036=) c.4056A>T (p.Gly1352=) c.4053A>T (p.Gly1351=) c.3972A>T (p.Gly1324=) c.3903A>T (p.Gly1301=) c.3771A>T (p.Gly1257=) c.3639A>T (p.Gly1213=) | |
20 | g.32436505G>A | CA408563814 | ASXL1 | c.3793G>A (p.Asp1265Asn) c.3610G>A (p.Asp1204Asn) n.6146G>A c.1870-1925G>A (n.1870-1925G>A) c.3778G>A (p.Asp1260Asn) c.3790G>A (p.Asp1264Asn) c.3763G>A (p.Asp1255Asn) c.3709G>A (p.Asp1237Asn) c.3109G>A (p.Asp1037Asn) c.4057G>A (p.Asp1353Asn) c.4054G>A (p.Asp1352Asn) c.3973G>A (p.Asp1325Asn) c.3904G>A (p.Asp1302Asn) c.3772G>A (p.Asp1258Asn) c.3640G>A (p.Asp1214Asn) | dbSNP |
20 | g.32436505G>C | CA408563815 | ASXL1 | c.3793G>C (p.Asp1265His) c.3610G>C (p.Asp1204His) n.6146G>C c.1870-1925G>C (n.1870-1925G>C) c.3778G>C (p.Asp1260His) c.3790G>C (p.Asp1264His) c.3763G>C (p.Asp1255His) c.3709G>C (p.Asp1237His) c.3109G>C (p.Asp1037His) c.4057G>C (p.Asp1353His) c.4054G>C (p.Asp1352His) c.3973G>C (p.Asp1325His) c.3904G>C (p.Asp1302His) c.3772G>C (p.Asp1258His) c.3640G>C (p.Asp1214His) | |
20 | g.32436505G= | CA2360293742 | ASXL1 | c.3793G= (p.Asp1265=) c.3610G= (p.Asp1204=) n.6146G= c.1870-1925G= (n.1870-1925G=) c.3778G= (p.Asp1260=) c.3790G= (p.Asp1264=) c.3763G= (p.Asp1255=) c.3709G= (p.Asp1237=) c.3109G= (p.Asp1037=) c.4057G= (p.Asp1353=) c.4054G= (p.Asp1352=) c.3973G= (p.Asp1325=) c.3904G= (p.Asp1302=) c.3772G= (p.Asp1258=) c.3640G= (p.Asp1214=) | |
20 | g.32436505G>T | CA9808903 | ASXL1 | c.3793G>T (p.Asp1265Tyr) c.3610G>T (p.Asp1204Tyr) n.6146G>T c.1870-1925G>T (n.1870-1925G>T) c.3778G>T (p.Asp1260Tyr) c.3790G>T (p.Asp1264Tyr) c.3763G>T (p.Asp1255Tyr) c.3709G>T (p.Asp1237Tyr) c.3109G>T (p.Asp1037Tyr) c.4057G>T (p.Asp1353Tyr) c.4054G>T (p.Asp1352Tyr) c.3973G>T (p.Asp1325Tyr) c.3904G>T (p.Asp1302Tyr) c.3772G>T (p.Asp1258Tyr) c.3640G>T (p.Asp1214Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.32436506A>C | CA408563816 | ASXL1 | c.3794A>C (p.Asp1265Ala) c.3611A>C (p.Asp1204Ala) n.6147A>C c.1870-1924A>C (n.1870-1924A>C) c.3779A>C (p.Asp1260Ala) c.3791A>C (p.Asp1264Ala) c.3764A>C (p.Asp1255Ala) c.3710A>C (p.Asp1237Ala) c.3110A>C (p.Asp1037Ala) c.4058A>C (p.Asp1353Ala) c.4055A>C (p.Asp1352Ala) c.3974A>C (p.Asp1325Ala) c.3905A>C (p.Asp1302Ala) c.3773A>C (p.Asp1258Ala) c.3641A>C (p.Asp1214Ala) | |
20 | g.32436506A>G | CA408563817 | ASXL1 | c.3794A>G (p.Asp1265Gly) c.3611A>G (p.Asp1204Gly) n.6147A>G c.1870-1924A>G (n.1870-1924A>G) c.3779A>G (p.Asp1260Gly) c.3791A>G (p.Asp1264Gly) c.3764A>G (p.Asp1255Gly) c.3710A>G (p.Asp1237Gly) c.3110A>G (p.Asp1037Gly) c.4058A>G (p.Asp1353Gly) c.4055A>G (p.Asp1352Gly) c.3974A>G (p.Asp1325Gly) c.3905A>G (p.Asp1302Gly) c.3773A>G (p.Asp1258Gly) c.3641A>G (p.Asp1214Gly) | gnomAD v4 |
20 | g.32436506A>T | CA408563818 | ASXL1 | c.3794A>T (p.Asp1265Val) c.3611A>T (p.Asp1204Val) n.6147A>T c.1870-1924A>T (n.1870-1924A>T) c.3779A>T (p.Asp1260Val) c.3791A>T (p.Asp1264Val) c.3764A>T (p.Asp1255Val) c.3710A>T (p.Asp1237Val) c.3110A>T (p.Asp1037Val) c.4058A>T (p.Asp1353Val) c.4055A>T (p.Asp1352Val) c.3974A>T (p.Asp1325Val) c.3905A>T (p.Asp1302Val) c.3773A>T (p.Asp1258Val) c.3641A>T (p.Asp1214Val) | |
20 | g.32436507T>A | CA408563819 | ASXL1 | c.3795T>A (p.Asp1265Glu) c.3612T>A (p.Asp1204Glu) n.6148T>A c.1870-1923T>A (n.1870-1923T>A) c.3780T>A (p.Asp1260Glu) c.3792T>A (p.Asp1264Glu) c.3765T>A (p.Asp1255Glu) c.3711T>A (p.Asp1237Glu) c.3111T>A (p.Asp1037Glu) c.4059T>A (p.Asp1353Glu) c.4056T>A (p.Asp1352Glu) c.3975T>A (p.Asp1325Glu) c.3906T>A (p.Asp1302Glu) c.3774T>A (p.Asp1258Glu) c.3642T>A (p.Asp1214Glu) | |
20 | g.32436507T>C | CA510467691 | ASXL1 | c.3795T>C (p.Asp1265=) c.3612T>C (p.Asp1204=) n.6148T>C c.1870-1923T>C (n.1870-1923T>C) c.3780T>C (p.Asp1260=) c.3792T>C (p.Asp1264=) c.3765T>C (p.Asp1255=) c.3711T>C (p.Asp1237=) c.3111T>C (p.Asp1037=) c.4059T>C (p.Asp1353=) c.4056T>C (p.Asp1352=) c.3975T>C (p.Asp1325=) c.3906T>C (p.Asp1302=) c.3774T>C (p.Asp1258=) c.3642T>C (p.Asp1214=) | |
20 | g.32436507T>G | CA408563820 | ASXL1 | c.3795T>G (p.Asp1265Glu) c.3612T>G (p.Asp1204Glu) n.6148T>G c.1870-1923T>G (n.1870-1923T>G) c.3780T>G (p.Asp1260Glu) c.3792T>G (p.Asp1264Glu) c.3765T>G (p.Asp1255Glu) c.3711T>G (p.Asp1237Glu) c.3111T>G (p.Asp1037Glu) c.4059T>G (p.Asp1353Glu) c.4056T>G (p.Asp1352Glu) c.3975T>G (p.Asp1325Glu) c.3906T>G (p.Asp1302Glu) c.3774T>G (p.Asp1258Glu) c.3642T>G (p.Asp1214Glu) | |
20 | g.32436508C>A | CA408563822 | ASXL1 | c.3796C>A (p.Leu1266Ile) c.3613C>A (p.Leu1205Ile) n.6149C>A c.1870-1922C>A (n.1870-1922C>A) c.3781C>A (p.Leu1261Ile) c.3793C>A (p.Leu1265Ile) c.3766C>A (p.Leu1256Ile) c.3712C>A (p.Leu1238Ile) c.3112C>A (p.Leu1038Ile) c.4060C>A (p.Leu1354Ile) c.4057C>A (p.Leu1353Ile) c.3976C>A (p.Leu1326Ile) c.3907C>A (p.Leu1303Ile) c.3775C>A (p.Leu1259Ile) c.3643C>A (p.Leu1215Ile) | gnomAD v4 |
20 | g.32436508C= | CA2360293743 | ASXL1 | c.3796C= (p.Leu1266=) c.3613C= (p.Leu1205=) n.6149C= c.1870-1922C= (n.1870-1922C=) c.3781C= (p.Leu1261=) c.3793C= (p.Leu1265=) c.3766C= (p.Leu1256=) c.3712C= (p.Leu1238=) c.3112C= (p.Leu1038=) c.4060C= (p.Leu1354=) c.4057C= (p.Leu1353=) c.3976C= (p.Leu1326=) c.3907C= (p.Leu1303=) c.3775C= (p.Leu1259=) c.3643C= (p.Leu1215=) | |
20 | g.32436508C>G | CA9808904 | ASXL1 | c.3796C>G (p.Leu1266Val) c.3613C>G (p.Leu1205Val) n.6149C>G c.1870-1922C>G (n.1870-1922C>G) c.3781C>G (p.Leu1261Val) c.3793C>G (p.Leu1265Val) c.3766C>G (p.Leu1256Val) c.3712C>G (p.Leu1238Val) c.3112C>G (p.Leu1038Val) c.4060C>G (p.Leu1354Val) c.4057C>G (p.Leu1353Val) c.3976C>G (p.Leu1326Val) c.3907C>G (p.Leu1303Val) c.3775C>G (p.Leu1259Val) c.3643C>G (p.Leu1215Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436508C>T | CA408563821 | ASXL1 | c.3796C>T (p.Leu1266Phe) c.3613C>T (p.Leu1205Phe) n.6149C>T c.1870-1922C>T (n.1870-1922C>T) c.3781C>T (p.Leu1261Phe) c.3793C>T (p.Leu1265Phe) c.3766C>T (p.Leu1256Phe) c.3712C>T (p.Leu1238Phe) c.3112C>T (p.Leu1038Phe) c.4060C>T (p.Leu1354Phe) c.4057C>T (p.Leu1353Phe) c.3976C>T (p.Leu1326Phe) c.3907C>T (p.Leu1303Phe) c.3775C>T (p.Leu1259Phe) c.3643C>T (p.Leu1215Phe) | ClinVar |
20 | g.32436509_32436524del | CA645612971 | ASXL1 | c.3797_3812del (p.Leu1266HisfsTer9) c.3614_3629del (p.Leu1205HisfsTer9) n.6150_6165del c.1870-1921_1870-1906del (n.1870-1921_1870-1906del) c.3782_3797del (p.Leu1261HisfsTer9) c.3794_3809del (p.Leu1265HisfsTer9) c.3767_3782del (p.Leu1256HisfsTer9) c.3713_3728del (p.Leu1238HisfsTer9) c.3113_3128del (p.Leu1038HisfsTer9) c.4061_4076del (p.Leu1354HisfsTer9) c.4058_4073del (p.Leu1353HisfsTer9) c.3977_3992del (p.Leu1326HisfsTer9) c.3908_3923del (p.Leu1303HisfsTer9) c.3776_3791del (p.Leu1259HisfsTer9) c.3644_3659del (p.Leu1215HisfsTer9) | COSMIC |
20 | g.32436509T>A | CA408563823 | ASXL1 | c.3797T>A (p.Leu1266His) c.3614T>A (p.Leu1205His) n.6150T>A c.1870-1921T>A (n.1870-1921T>A) c.3782T>A (p.Leu1261His) c.3794T>A (p.Leu1265His) c.3767T>A (p.Leu1256His) c.3713T>A (p.Leu1238His) c.3113T>A (p.Leu1038His) c.4061T>A (p.Leu1354His) c.4058T>A (p.Leu1353His) c.3977T>A (p.Leu1326His) c.3908T>A (p.Leu1303His) c.3776T>A (p.Leu1259His) c.3644T>A (p.Leu1215His) | |
20 | g.32436509T>C | CA408563824 | ASXL1 | c.3797T>C (p.Leu1266Pro) c.3614T>C (p.Leu1205Pro) n.6150T>C c.1870-1921T>C (n.1870-1921T>C) c.3782T>C (p.Leu1261Pro) c.3794T>C (p.Leu1265Pro) c.3767T>C (p.Leu1256Pro) c.3713T>C (p.Leu1238Pro) c.3113T>C (p.Leu1038Pro) c.4061T>C (p.Leu1354Pro) c.4058T>C (p.Leu1353Pro) c.3977T>C (p.Leu1326Pro) c.3908T>C (p.Leu1303Pro) c.3776T>C (p.Leu1259Pro) c.3644T>C (p.Leu1215Pro) | |
20 | g.32436509T>G | CA408563825 | ASXL1 | c.3797T>G (p.Leu1266Arg) c.3614T>G (p.Leu1205Arg) n.6150T>G c.1870-1921T>G (n.1870-1921T>G) c.3782T>G (p.Leu1261Arg) c.3794T>G (p.Leu1265Arg) c.3767T>G (p.Leu1256Arg) c.3713T>G (p.Leu1238Arg) c.3113T>G (p.Leu1038Arg) c.4061T>G (p.Leu1354Arg) c.4058T>G (p.Leu1353Arg) c.3977T>G (p.Leu1326Arg) c.3908T>G (p.Leu1303Arg) c.3776T>G (p.Leu1259Arg) c.3644T>G (p.Leu1215Arg) | |
20 | g.32436510del | CA2652401247 | ASXL1 | c.3798del (p.Thr1267LeufsTer13) c.3615del (p.Thr1206LeufsTer13) n.6151del c.1870-1920del (n.1870-1920del) c.3783del (p.Thr1262LeufsTer13) c.3795del (p.Thr1266LeufsTer13) c.3768del (p.Thr1257LeufsTer13) c.3714del (p.Thr1239LeufsTer13) c.3114del (p.Thr1039LeufsTer13) c.4062del (p.Thr1355LeufsTer13) c.4059del (p.Thr1354LeufsTer13) c.3978del (p.Thr1327LeufsTer13) c.3909del (p.Thr1304LeufsTer13) c.3777del (p.Thr1260LeufsTer13) c.3645del (p.Thr1216LeufsTer13) | gnomAD v4 |
20 | g.32436510T>A | CA510467692 | ASXL1 | c.3798T>A (p.Leu1266=) c.3615T>A (p.Leu1205=) n.6151T>A c.1870-1920T>A (n.1870-1920T>A) c.3783T>A (p.Leu1261=) c.3795T>A (p.Leu1265=) c.3768T>A (p.Leu1256=) c.3714T>A (p.Leu1238=) c.3114T>A (p.Leu1038=) c.4062T>A (p.Leu1354=) c.4059T>A (p.Leu1353=) c.3978T>A (p.Leu1326=) c.3909T>A (p.Leu1303=) c.3777T>A (p.Leu1259=) c.3645T>A (p.Leu1215=) | |
20 | g.32436510T>C | CA510467694 | ASXL1 | c.3798T>C (p.Leu1266=) c.3615T>C (p.Leu1205=) n.6151T>C c.1870-1920T>C (n.1870-1920T>C) c.3783T>C (p.Leu1261=) c.3795T>C (p.Leu1265=) c.3768T>C (p.Leu1256=) c.3714T>C (p.Leu1238=) c.3114T>C (p.Leu1038=) c.4062T>C (p.Leu1354=) c.4059T>C (p.Leu1353=) c.3978T>C (p.Leu1326=) c.3909T>C (p.Leu1303=) c.3777T>C (p.Leu1259=) c.3645T>C (p.Leu1215=) | |
20 | g.32436510T>G | CA510467693 | ASXL1 | c.3798T>G (p.Leu1266=) c.3615T>G (p.Leu1205=) n.6151T>G c.1870-1920T>G (n.1870-1920T>G) c.3783T>G (p.Leu1261=) c.3795T>G (p.Leu1265=) c.3768T>G (p.Leu1256=) c.3714T>G (p.Leu1238=) c.3114T>G (p.Leu1038=) c.4062T>G (p.Leu1354=) c.4059T>G (p.Leu1353=) c.3978T>G (p.Leu1326=) c.3909T>G (p.Leu1303=) c.3777T>G (p.Leu1259=) c.3645T>G (p.Leu1215=) | |
20 | g.32436510T= | CA2360293744 | ASXL1 | c.3798T= (p.Leu1266=) c.3615T= (p.Leu1205=) n.6151T= c.1870-1920T= (n.1870-1920T=) c.3783T= (p.Leu1261=) c.3795T= (p.Leu1265=) c.3768T= (p.Leu1256=) c.3714T= (p.Leu1238=) c.3114T= (p.Leu1038=) c.4062T= (p.Leu1354=) c.4059T= (p.Leu1353=) c.3978T= (p.Leu1326=) c.3909T= (p.Leu1303=) c.3777T= (p.Leu1259=) c.3645T= (p.Leu1215=) | |
20 | g.32436511A>C | CA408563826 | ASXL1 | c.3799A>C (p.Thr1267Pro) c.3616A>C (p.Thr1206Pro) n.6152A>C c.1870-1919A>C (n.1870-1919A>C) c.3784A>C (p.Thr1262Pro) c.3796A>C (p.Thr1266Pro) c.3769A>C (p.Thr1257Pro) c.3715A>C (p.Thr1239Pro) c.3115A>C (p.Thr1039Pro) c.4063A>C (p.Thr1355Pro) c.4060A>C (p.Thr1354Pro) c.3979A>C (p.Thr1327Pro) c.3910A>C (p.Thr1304Pro) c.3778A>C (p.Thr1260Pro) c.3646A>C (p.Thr1216Pro) | |
20 | g.32436511A>G | CA408563827 | ASXL1 | c.3799A>G (p.Thr1267Ala) c.3616A>G (p.Thr1206Ala) n.6152A>G c.1870-1919A>G (n.1870-1919A>G) c.3784A>G (p.Thr1262Ala) c.3796A>G (p.Thr1266Ala) c.3769A>G (p.Thr1257Ala) c.3715A>G (p.Thr1239Ala) c.3115A>G (p.Thr1039Ala) c.4063A>G (p.Thr1355Ala) c.4060A>G (p.Thr1354Ala) c.3979A>G (p.Thr1327Ala) c.3910A>G (p.Thr1304Ala) c.3778A>G (p.Thr1260Ala) c.3646A>G (p.Thr1216Ala) | |
20 | g.32436511A>T | CA408563828 | ASXL1 | c.3799A>T (p.Thr1267Ser) c.3616A>T (p.Thr1206Ser) n.6152A>T c.1870-1919A>T (n.1870-1919A>T) c.3784A>T (p.Thr1262Ser) c.3796A>T (p.Thr1266Ser) c.3769A>T (p.Thr1257Ser) c.3715A>T (p.Thr1239Ser) c.3115A>T (p.Thr1039Ser) c.4063A>T (p.Thr1355Ser) c.4060A>T (p.Thr1354Ser) c.3979A>T (p.Thr1327Ser) c.3910A>T (p.Thr1304Ser) c.3778A>T (p.Thr1260Ser) c.3646A>T (p.Thr1216Ser) | |
20 | g.32436511dup | CA743615750 | ASXL1 | c.3799dup (p.Thr1267AsnfsTer27) c.3616dup (p.Thr1206AsnfsTer27) n.6152dup c.1870-1919dup (n.1870-1919dup) c.3784dup (p.Thr1262AsnfsTer27) c.3796dup (p.Thr1266AsnfsTer27) c.3769dup (p.Thr1257AsnfsTer27) c.3715dup (p.Thr1239AsnfsTer27) c.3115dup (p.Thr1039AsnfsTer27) c.4063dup (p.Thr1355AsnfsTer27) c.4060dup (p.Thr1354AsnfsTer27) c.3979dup (p.Thr1327AsnfsTer27) c.3910dup (p.Thr1304AsnfsTer27) c.3778dup (p.Thr1260AsnfsTer27) c.3646dup (p.Thr1216AsnfsTer27) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436512C>A | CA9808905 | ASXL1 | c.3800C>A (p.Thr1267Asn) c.3617C>A (p.Thr1206Asn) n.6153C>A c.1870-1918C>A (n.1870-1918C>A) c.3785C>A (p.Thr1262Asn) c.3797C>A (p.Thr1266Asn) c.3770C>A (p.Thr1257Asn) c.3716C>A (p.Thr1239Asn) c.3116C>A (p.Thr1039Asn) c.4064C>A (p.Thr1355Asn) c.4061C>A (p.Thr1354Asn) c.3980C>A (p.Thr1327Asn) c.3911C>A (p.Thr1304Asn) c.3779C>A (p.Thr1260Asn) c.3647C>A (p.Thr1216Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436512C= | CA2360293745 | ASXL1 | c.3800C= (p.Thr1267=) c.3617C= (p.Thr1206=) n.6153C= c.1870-1918C= (n.1870-1918C=) c.3785C= (p.Thr1262=) c.3797C= (p.Thr1266=) c.3770C= (p.Thr1257=) c.3716C= (p.Thr1239=) c.3116C= (p.Thr1039=) c.4064C= (p.Thr1355=) c.4061C= (p.Thr1354=) c.3980C= (p.Thr1327=) c.3911C= (p.Thr1304=) c.3779C= (p.Thr1260=) c.3647C= (p.Thr1216=) | |
20 | g.32436512C>G | CA408563829 | ASXL1 | c.3800C>G (p.Thr1267Ser) c.3617C>G (p.Thr1206Ser) n.6153C>G c.1870-1918C>G (n.1870-1918C>G) c.3785C>G (p.Thr1262Ser) c.3797C>G (p.Thr1266Ser) c.3770C>G (p.Thr1257Ser) c.3716C>G (p.Thr1239Ser) c.3116C>G (p.Thr1039Ser) c.4064C>G (p.Thr1355Ser) c.4061C>G (p.Thr1354Ser) c.3980C>G (p.Thr1327Ser) c.3911C>G (p.Thr1304Ser) c.3779C>G (p.Thr1260Ser) c.3647C>G (p.Thr1216Ser) | |
20 | g.32436512C>T | CA408563830 | ASXL1 | c.3800C>T (p.Thr1267Ile) c.3617C>T (p.Thr1206Ile) n.6153C>T c.1870-1918C>T (n.1870-1918C>T) c.3785C>T (p.Thr1262Ile) c.3797C>T (p.Thr1266Ile) c.3770C>T (p.Thr1257Ile) c.3716C>T (p.Thr1239Ile) c.3116C>T (p.Thr1039Ile) c.4064C>T (p.Thr1355Ile) c.4061C>T (p.Thr1354Ile) c.3980C>T (p.Thr1327Ile) c.3911C>T (p.Thr1304Ile) c.3779C>T (p.Thr1260Ile) c.3647C>T (p.Thr1216Ile) | |
20 | g.32436513T>A | CA510467380 | ASXL1 | c.3801T>A (p.Thr1267=) c.3618T>A (p.Thr1206=) n.6154T>A c.1870-1917T>A (n.1870-1917T>A) c.3786T>A (p.Thr1262=) c.3798T>A (p.Thr1266=) c.3771T>A (p.Thr1257=) c.3717T>A (p.Thr1239=) c.3117T>A (p.Thr1039=) c.4065T>A (p.Thr1355=) c.4062T>A (p.Thr1354=) c.3981T>A (p.Thr1327=) c.3912T>A (p.Thr1304=) c.3780T>A (p.Thr1260=) c.3648T>A (p.Thr1216=) | |
20 | g.32436513T>C | CA510467381 | ASXL1 | c.3801T>C (p.Thr1267=) c.3618T>C (p.Thr1206=) n.6154T>C c.1870-1917T>C (n.1870-1917T>C) c.3786T>C (p.Thr1262=) c.3798T>C (p.Thr1266=) c.3771T>C (p.Thr1257=) c.3717T>C (p.Thr1239=) c.3117T>C (p.Thr1039=) c.4065T>C (p.Thr1355=) c.4062T>C (p.Thr1354=) c.3981T>C (p.Thr1327=) c.3912T>C (p.Thr1304=) c.3780T>C (p.Thr1260=) c.3648T>C (p.Thr1216=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436513T>G | CA510467383 | ASXL1 | c.3801T>G (p.Thr1267=) c.3618T>G (p.Thr1206=) n.6154T>G c.1870-1917T>G (n.1870-1917T>G) c.3786T>G (p.Thr1262=) c.3798T>G (p.Thr1266=) c.3771T>G (p.Thr1257=) c.3717T>G (p.Thr1239=) c.3117T>G (p.Thr1039=) c.4065T>G (p.Thr1355=) c.4062T>G (p.Thr1354=) c.3981T>G (p.Thr1327=) c.3912T>G (p.Thr1304=) c.3780T>G (p.Thr1260=) c.3648T>G (p.Thr1216=) | |
20 | g.32436513T= | CA2360293746 | ASXL1 | c.3801T= (p.Thr1267=) c.3618T= (p.Thr1206=) n.6154T= c.1870-1917T= (n.1870-1917T=) c.3786T= (p.Thr1262=) c.3798T= (p.Thr1266=) c.3771T= (p.Thr1257=) c.3717T= (p.Thr1239=) c.3117T= (p.Thr1039=) c.4065T= (p.Thr1355=) c.4062T= (p.Thr1354=) c.3981T= (p.Thr1327=) c.3912T= (p.Thr1304=) c.3780T= (p.Thr1260=) c.3648T= (p.Thr1216=) |