Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.32436281_32436343dupCA635268547ASXL1c.3569_3631dup (p.Phe1210_Asp1211insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
c.3386_3448dup (p.Phe1149_Asp1150insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
n.5922_5984dup
c.1869+1700_1869+1762dup (n.1869+1700_1869+1762dup)
c.3554_3616dup (p.Phe1205_Asp1206insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
c.3566_3628dup (p.Phe1209_Asp1210insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
c.3539_3601dup (p.Phe1200_Asp1201insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
c.3485_3547dup (p.Phe1182_Asp1183insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
c.2885_2947dup (p.Phe982_Asp983insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
c.3833_3895dup (p.Phe1298_Asp1299insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
c.3830_3892dup (p.Phe1297_Asp1298insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
c.3749_3811dup (p.Phe1270_Asp1271insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
c.3680_3742dup (p.Phe1247_Asp1248insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
c.3548_3610dup (p.Phe1203_Asp1204insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
c.3416_3478dup (p.Phe1159_Asp1160insGlyIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPhe)
 dbSNP gnomAD v2
20g.32436329_32436338delCA645612967ASXL1c.3617_3626del (p.Ala1206ValfsTer8)
c.3434_3443del (p.Ala1145ValfsTer8)
n.5970_5979del
c.1869+1748_1869+1757del (n.1869+1748_1869+1757del)
c.3602_3611del (p.Ala1201ValfsTer8)
c.3614_3623del (p.Ala1205ValfsTer8)
c.3587_3596del (p.Ala1196ValfsTer8)
c.3533_3542del (p.Ala1178ValfsTer8)
c.2933_2942del (p.Ala978ValfsTer8)
c.3881_3890del (p.Ala1294ValfsTer8)
c.3878_3887del (p.Ala1293ValfsTer8)
c.3797_3806del (p.Ala1266ValfsTer8)
c.3728_3737del (p.Ala1243ValfsTer8)
c.3596_3605del (p.Ala1199ValfsTer8)
c.3464_3473del (p.Ala1155ValfsTer8)
 COSMIC COSMIC
20g.32436330A>CCA510467361ASXL1c.3618A>C (p.Ala1206=)
c.3435A>C (p.Ala1145=)
n.5971A>C
c.1869+1749A>C (n.1869+1749A>C)
c.3603A>C (p.Ala1201=)
c.3615A>C (p.Ala1205=)
c.3588A>C (p.Ala1196=)
c.3534A>C (p.Ala1178=)
c.2934A>C (p.Ala978=)
c.3882A>C (p.Ala1294=)
c.3879A>C (p.Ala1293=)
c.3798A>C (p.Ala1266=)
c.3729A>C (p.Ala1243=)
c.3597A>C (p.Ala1199=)
c.3465A>C (p.Ala1155=)
20g.32436330A>GCA510467362ASXL1c.3618A>G (p.Ala1206=)
c.3435A>G (p.Ala1145=)
n.5971A>G
c.1869+1749A>G (n.1869+1749A>G)
c.3603A>G (p.Ala1201=)
c.3615A>G (p.Ala1205=)
c.3588A>G (p.Ala1196=)
c.3534A>G (p.Ala1178=)
c.2934A>G (p.Ala978=)
c.3882A>G (p.Ala1294=)
c.3879A>G (p.Ala1293=)
c.3798A>G (p.Ala1266=)
c.3729A>G (p.Ala1243=)
c.3597A>G (p.Ala1199=)
c.3465A>G (p.Ala1155=)
20g.32436330A>TCA510467363ASXL1c.3618A>T (p.Ala1206=)
c.3435A>T (p.Ala1145=)
n.5971A>T
c.1869+1749A>T (n.1869+1749A>T)
c.3603A>T (p.Ala1201=)
c.3615A>T (p.Ala1205=)
c.3588A>T (p.Ala1196=)
c.3534A>T (p.Ala1178=)
c.2934A>T (p.Ala978=)
c.3882A>T (p.Ala1294=)
c.3879A>T (p.Ala1293=)
c.3798A>T (p.Ala1266=)
c.3729A>T (p.Ala1243=)
c.3597A>T (p.Ala1199=)
c.3465A>T (p.Ala1155=)
20g.32436331G>ACA408563441ASXL1c.3619G>A (p.Val1207Ile)
c.3436G>A (p.Val1146Ile)
n.5972G>A
c.1869+1750G>A (n.1869+1750G>A)
c.3604G>A (p.Val1202Ile)
c.3616G>A (p.Val1206Ile)
c.3589G>A (p.Val1197Ile)
c.3535G>A (p.Val1179Ile)
c.2935G>A (p.Val979Ile)
c.3883G>A (p.Val1295Ile)
c.3880G>A (p.Val1294Ile)
c.3799G>A (p.Val1267Ile)
c.3730G>A (p.Val1244Ile)
c.3598G>A (p.Val1200Ile)
c.3466G>A (p.Val1156Ile)
20g.32436331G>CCA408563439ASXL1c.3619G>C (p.Val1207Leu)
c.3436G>C (p.Val1146Leu)
n.5972G>C
c.1869+1750G>C (n.1869+1750G>C)
c.3604G>C (p.Val1202Leu)
c.3616G>C (p.Val1206Leu)
c.3589G>C (p.Val1197Leu)
c.3535G>C (p.Val1179Leu)
c.2935G>C (p.Val979Leu)
c.3883G>C (p.Val1295Leu)
c.3880G>C (p.Val1294Leu)
c.3799G>C (p.Val1267Leu)
c.3730G>C (p.Val1244Leu)
c.3598G>C (p.Val1200Leu)
c.3466G>C (p.Val1156Leu)
 gnomAD v4
20g.32436331G>TCA408563440ASXL1c.3619G>T (p.Val1207Phe)
c.3436G>T (p.Val1146Phe)
n.5972G>T
c.1869+1750G>T (n.1869+1750G>T)
c.3604G>T (p.Val1202Phe)
c.3616G>T (p.Val1206Phe)
c.3589G>T (p.Val1197Phe)
c.3535G>T (p.Val1179Phe)
c.2935G>T (p.Val979Phe)
c.3883G>T (p.Val1295Phe)
c.3880G>T (p.Val1294Phe)
c.3799G>T (p.Val1267Phe)
c.3730G>T (p.Val1244Phe)
c.3598G>T (p.Val1200Phe)
c.3466G>T (p.Val1156Phe)
 gnomAD v4
20g.32436332T>ACA408563442ASXL1c.3620T>A (p.Val1207Asp)
c.3437T>A (p.Val1146Asp)
n.5973T>A
c.1869+1751T>A (n.1869+1751T>A)
c.3605T>A (p.Val1202Asp)
c.3617T>A (p.Val1206Asp)
c.3590T>A (p.Val1197Asp)
c.3536T>A (p.Val1179Asp)
c.2936T>A (p.Val979Asp)
c.3884T>A (p.Val1295Asp)
c.3881T>A (p.Val1294Asp)
c.3800T>A (p.Val1267Asp)
c.3731T>A (p.Val1244Asp)
c.3599T>A (p.Val1200Asp)
c.3467T>A (p.Val1156Asp)
 dbSNP
20g.32436332T>CCA408563443ASXL1c.3620T>C (p.Val1207Ala)
c.3437T>C (p.Val1146Ala)
n.5973T>C
c.1869+1751T>C (n.1869+1751T>C)
c.3605T>C (p.Val1202Ala)
c.3617T>C (p.Val1206Ala)
c.3590T>C (p.Val1197Ala)
c.3536T>C (p.Val1179Ala)
c.2936T>C (p.Val979Ala)
c.3884T>C (p.Val1295Ala)
c.3881T>C (p.Val1294Ala)
c.3800T>C (p.Val1267Ala)
c.3731T>C (p.Val1244Ala)
c.3599T>C (p.Val1200Ala)
c.3467T>C (p.Val1156Ala)
20g.32436332T>GCA408563444ASXL1c.3620T>G (p.Val1207Gly)
c.3437T>G (p.Val1146Gly)
n.5973T>G
c.1869+1751T>G (n.1869+1751T>G)
c.3605T>G (p.Val1202Gly)
c.3617T>G (p.Val1206Gly)
c.3590T>G (p.Val1197Gly)
c.3536T>G (p.Val1179Gly)
c.2936T>G (p.Val979Gly)
c.3884T>G (p.Val1295Gly)
c.3881T>G (p.Val1294Gly)
c.3800T>G (p.Val1267Gly)
c.3731T>G (p.Val1244Gly)
c.3599T>G (p.Val1200Gly)
c.3467T>G (p.Val1156Gly)
20g.32436333C>ACA510467364ASXL1c.3621C>A (p.Val1207=)
c.3438C>A (p.Val1146=)
n.5974C>A
c.1869+1752C>A (n.1869+1752C>A)
c.3606C>A (p.Val1202=)
c.3618C>A (p.Val1206=)
c.3591C>A (p.Val1197=)
c.3537C>A (p.Val1179=)
c.2937C>A (p.Val979=)
c.3885C>A (p.Val1295=)
c.3882C>A (p.Val1294=)
c.3801C>A (p.Val1267=)
c.3732C>A (p.Val1244=)
c.3600C>A (p.Val1200=)
c.3468C>A (p.Val1156=)
20g.32436333C=CA2360293650ASXL1c.3621C= (p.Val1207=)
c.3438C= (p.Val1146=)
n.5974C=
c.1869+1752C= (n.1869+1752C=)
c.3606C= (p.Val1202=)
c.3618C= (p.Val1206=)
c.3591C= (p.Val1197=)
c.3537C= (p.Val1179=)
c.2937C= (p.Val979=)
c.3885C= (p.Val1295=)
c.3882C= (p.Val1294=)
c.3801C= (p.Val1267=)
c.3732C= (p.Val1244=)
c.3600C= (p.Val1200=)
c.3468C= (p.Val1156=)
20g.32436333C>GCA9808864ASXL1c.3621C>G (p.Val1207=)
c.3438C>G (p.Val1146=)
n.5974C>G
c.1869+1752C>G (n.1869+1752C>G)
c.3606C>G (p.Val1202=)
c.3618C>G (p.Val1206=)
c.3591C>G (p.Val1197=)
c.3537C>G (p.Val1179=)
c.2937C>G (p.Val979=)
c.3885C>G (p.Val1295=)
c.3882C>G (p.Val1294=)
c.3801C>G (p.Val1267=)
c.3732C>G (p.Val1244=)
c.3600C>G (p.Val1200=)
c.3468C>G (p.Val1156=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436333C>TCA510467365ASXL1c.3621C>T (p.Val1207=)
c.3438C>T (p.Val1146=)
n.5974C>T
c.1869+1752C>T (n.1869+1752C>T)
c.3606C>T (p.Val1202=)
c.3618C>T (p.Val1206=)
c.3591C>T (p.Val1197=)
c.3537C>T (p.Val1179=)
c.2937C>T (p.Val979=)
c.3885C>T (p.Val1295=)
c.3882C>T (p.Val1294=)
c.3801C>T (p.Val1267=)
c.3732C>T (p.Val1244=)
c.3600C>T (p.Val1200=)
c.3468C>T (p.Val1156=)
20g.32436334C>ACA408563445ASXL1c.3622C>A (p.Pro1208Thr)
c.3439C>A (p.Pro1147Thr)
n.5975C>A
c.1869+1753C>A (n.1869+1753C>A)
c.3607C>A (p.Pro1203Thr)
c.3619C>A (p.Pro1207Thr)
c.3592C>A (p.Pro1198Thr)
c.3538C>A (p.Pro1180Thr)
c.2938C>A (p.Pro980Thr)
c.3886C>A (p.Pro1296Thr)
c.3883C>A (p.Pro1295Thr)
c.3802C>A (p.Pro1268Thr)
c.3733C>A (p.Pro1245Thr)
c.3601C>A (p.Pro1201Thr)
c.3469C>A (p.Pro1157Thr)
20g.32436334C>GCA408563446ASXL1c.3622C>G (p.Pro1208Ala)
c.3439C>G (p.Pro1147Ala)
n.5975C>G
c.1869+1753C>G (n.1869+1753C>G)
c.3607C>G (p.Pro1203Ala)
c.3619C>G (p.Pro1207Ala)
c.3592C>G (p.Pro1198Ala)
c.3538C>G (p.Pro1180Ala)
c.2938C>G (p.Pro980Ala)
c.3886C>G (p.Pro1296Ala)
c.3883C>G (p.Pro1295Ala)
c.3802C>G (p.Pro1268Ala)
c.3733C>G (p.Pro1245Ala)
c.3601C>G (p.Pro1201Ala)
c.3469C>G (p.Pro1157Ala)
20g.32436334C>TCA408563447ASXL1c.3622C>T (p.Pro1208Ser)
c.3439C>T (p.Pro1147Ser)
n.5975C>T
c.1869+1753C>T (n.1869+1753C>T)
c.3607C>T (p.Pro1203Ser)
c.3619C>T (p.Pro1207Ser)
c.3592C>T (p.Pro1198Ser)
c.3538C>T (p.Pro1180Ser)
c.2938C>T (p.Pro980Ser)
c.3886C>T (p.Pro1296Ser)
c.3883C>T (p.Pro1295Ser)
c.3802C>T (p.Pro1268Ser)
c.3733C>T (p.Pro1245Ser)
c.3601C>T (p.Pro1201Ser)
c.3469C>T (p.Pro1157Ser)
 dbSNP
20g.32436335C>ACA408563448ASXL1c.3623C>A (p.Pro1208Gln)
c.3440C>A (p.Pro1147Gln)
n.5976C>A
c.1869+1754C>A (n.1869+1754C>A)
c.3608C>A (p.Pro1203Gln)
c.3620C>A (p.Pro1207Gln)
c.3593C>A (p.Pro1198Gln)
c.3539C>A (p.Pro1180Gln)
c.2939C>A (p.Pro980Gln)
c.3887C>A (p.Pro1296Gln)
c.3884C>A (p.Pro1295Gln)
c.3803C>A (p.Pro1268Gln)
c.3734C>A (p.Pro1245Gln)
c.3602C>A (p.Pro1201Gln)
c.3470C>A (p.Pro1157Gln)
20g.32436335C=CA2360293651ASXL1c.3623C= (p.Pro1208=)
c.3440C= (p.Pro1147=)
n.5976C=
c.1869+1754C= (n.1869+1754C=)
c.3608C= (p.Pro1203=)
c.3620C= (p.Pro1207=)
c.3593C= (p.Pro1198=)
c.3539C= (p.Pro1180=)
c.2939C= (p.Pro980=)
c.3887C= (p.Pro1296=)
c.3884C= (p.Pro1295=)
c.3803C= (p.Pro1268=)
c.3734C= (p.Pro1245=)
c.3602C= (p.Pro1201=)
c.3470C= (p.Pro1157=)
20g.32436335C>GCA408563449ASXL1c.3623C>G (p.Pro1208Arg)
c.3440C>G (p.Pro1147Arg)
n.5976C>G
c.1869+1754C>G (n.1869+1754C>G)
c.3608C>G (p.Pro1203Arg)
c.3620C>G (p.Pro1207Arg)
c.3593C>G (p.Pro1198Arg)
c.3539C>G (p.Pro1180Arg)
c.2939C>G (p.Pro980Arg)
c.3887C>G (p.Pro1296Arg)
c.3884C>G (p.Pro1295Arg)
c.3803C>G (p.Pro1268Arg)
c.3734C>G (p.Pro1245Arg)
c.3602C>G (p.Pro1201Arg)
c.3470C>G (p.Pro1157Arg)
20g.32436335C>TCA9808865ASXL1c.3623C>T (p.Pro1208Leu)
c.3440C>T (p.Pro1147Leu)
n.5976C>T
c.1869+1754C>T (n.1869+1754C>T)
c.3608C>T (p.Pro1203Leu)
c.3620C>T (p.Pro1207Leu)
c.3593C>T (p.Pro1198Leu)
c.3539C>T (p.Pro1180Leu)
c.2939C>T (p.Pro980Leu)
c.3887C>T (p.Pro1296Leu)
c.3884C>T (p.Pro1295Leu)
c.3803C>T (p.Pro1268Leu)
c.3734C>T (p.Pro1245Leu)
c.3602C>T (p.Pro1201Leu)
c.3470C>T (p.Pro1157Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436336A=CA2360293652ASXL1c.3624A= (p.Pro1208=)
c.3441A= (p.Pro1147=)
n.5977A=
c.1869+1755A= (n.1869+1755A=)
c.3609A= (p.Pro1203=)
c.3621A= (p.Pro1207=)
c.3594A= (p.Pro1198=)
c.3540A= (p.Pro1180=)
c.2940A= (p.Pro980=)
c.3888A= (p.Pro1296=)
c.3885A= (p.Pro1295=)
c.3804A= (p.Pro1268=)
c.3735A= (p.Pro1245=)
c.3603A= (p.Pro1201=)
c.3471A= (p.Pro1157=)
20g.32436336A>CCA510467367ASXL1c.3624A>C (p.Pro1208=)
c.3441A>C (p.Pro1147=)
n.5977A>C
c.1869+1755A>C (n.1869+1755A>C)
c.3609A>C (p.Pro1203=)
c.3621A>C (p.Pro1207=)
c.3594A>C (p.Pro1198=)
c.3540A>C (p.Pro1180=)
c.2940A>C (p.Pro980=)
c.3888A>C (p.Pro1296=)
c.3885A>C (p.Pro1295=)
c.3804A>C (p.Pro1268=)
c.3735A>C (p.Pro1245=)
c.3603A>C (p.Pro1201=)
c.3471A>C (p.Pro1157=)
20g.32436336A>GCA510467368ASXL1c.3624A>G (p.Pro1208=)
c.3441A>G (p.Pro1147=)
n.5977A>G
c.1869+1755A>G (n.1869+1755A>G)
c.3609A>G (p.Pro1203=)
c.3621A>G (p.Pro1207=)
c.3594A>G (p.Pro1198=)
c.3540A>G (p.Pro1180=)
c.2940A>G (p.Pro980=)
c.3888A>G (p.Pro1296=)
c.3885A>G (p.Pro1295=)
c.3804A>G (p.Pro1268=)
c.3735A>G (p.Pro1245=)
c.3603A>G (p.Pro1201=)
c.3471A>G (p.Pro1157=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436336A>TCA510467366ASXL1c.3624A>T (p.Pro1208=)
c.3441A>T (p.Pro1147=)
n.5977A>T
c.1869+1755A>T (n.1869+1755A>T)
c.3609A>T (p.Pro1203=)
c.3621A>T (p.Pro1207=)
c.3594A>T (p.Pro1198=)
c.3540A>T (p.Pro1180=)
c.2940A>T (p.Pro980=)
c.3888A>T (p.Pro1296=)
c.3885A>T (p.Pro1295=)
c.3804A>T (p.Pro1268=)
c.3735A>T (p.Pro1245=)
c.3603A>T (p.Pro1201=)
c.3471A>T (p.Pro1157=)
20g.32436337dupCA2838759595ASXL1c.3625dup (p.Ser1209LysfsTer3)
c.3442dup (p.Ser1148LysfsTer3)
n.5978dup
c.1869+1756dup (n.1869+1756dup)
c.3610dup (p.Ser1204LysfsTer3)
c.3622dup (p.Ser1208LysfsTer3)
c.3595dup (p.Ser1199LysfsTer3)
c.3541dup (p.Ser1181LysfsTer3)
c.2941dup (p.Ser981LysfsTer3)
c.3889dup (p.Ser1297LysfsTer3)
c.3886dup (p.Ser1296LysfsTer3)
c.3805dup (p.Ser1269LysfsTer3)
c.3736dup (p.Ser1246LysfsTer3)
c.3604dup (p.Ser1202LysfsTer3)
c.3472dup (p.Ser1158LysfsTer3)
20g.32436337A>CCA408563450ASXL1c.3625A>C (p.Ser1209Arg)
c.3442A>C (p.Ser1148Arg)
n.5978A>C
c.1869+1756A>C (n.1869+1756A>C)
c.3610A>C (p.Ser1204Arg)
c.3622A>C (p.Ser1208Arg)
c.3595A>C (p.Ser1199Arg)
c.3541A>C (p.Ser1181Arg)
c.2941A>C (p.Ser981Arg)
c.3889A>C (p.Ser1297Arg)
c.3886A>C (p.Ser1296Arg)
c.3805A>C (p.Ser1269Arg)
c.3736A>C (p.Ser1246Arg)
c.3604A>C (p.Ser1202Arg)
c.3472A>C (p.Ser1158Arg)
20g.32436337A>GCA408563451ASXL1c.3625A>G (p.Ser1209Gly)
c.3442A>G (p.Ser1148Gly)
n.5978A>G
c.1869+1756A>G (n.1869+1756A>G)
c.3610A>G (p.Ser1204Gly)
c.3622A>G (p.Ser1208Gly)
c.3595A>G (p.Ser1199Gly)
c.3541A>G (p.Ser1181Gly)
c.2941A>G (p.Ser981Gly)
c.3889A>G (p.Ser1297Gly)
c.3886A>G (p.Ser1296Gly)
c.3805A>G (p.Ser1269Gly)
c.3736A>G (p.Ser1246Gly)
c.3604A>G (p.Ser1202Gly)
c.3472A>G (p.Ser1158Gly)
20g.32436337A>TCA408563452ASXL1c.3625A>T (p.Ser1209Cys)
c.3442A>T (p.Ser1148Cys)
n.5978A>T
c.1869+1756A>T (n.1869+1756A>T)
c.3610A>T (p.Ser1204Cys)
c.3622A>T (p.Ser1208Cys)
c.3595A>T (p.Ser1199Cys)
c.3541A>T (p.Ser1181Cys)
c.2941A>T (p.Ser981Cys)
c.3889A>T (p.Ser1297Cys)
c.3886A>T (p.Ser1296Cys)
c.3805A>T (p.Ser1269Cys)
c.3736A>T (p.Ser1246Cys)
c.3604A>T (p.Ser1202Cys)
c.3472A>T (p.Ser1158Cys)
20g.32436338G>ACA408563453ASXL1c.3626G>A (p.Ser1209Asn)
c.3443G>A (p.Ser1148Asn)
n.5979G>A
c.1869+1757G>A (n.1869+1757G>A)
c.3611G>A (p.Ser1204Asn)
c.3623G>A (p.Ser1208Asn)
c.3596G>A (p.Ser1199Asn)
c.3542G>A (p.Ser1181Asn)
c.2942G>A (p.Ser981Asn)
c.3890G>A (p.Ser1297Asn)
c.3887G>A (p.Ser1296Asn)
c.3806G>A (p.Ser1269Asn)
c.3737G>A (p.Ser1246Asn)
c.3605G>A (p.Ser1202Asn)
c.3473G>A (p.Ser1158Asn)
 ClinVar COSMIC
20g.32436338G>CCA408563455ASXL1c.3626G>C (p.Ser1209Thr)
c.3443G>C (p.Ser1148Thr)
n.5979G>C
c.1869+1757G>C (n.1869+1757G>C)
c.3611G>C (p.Ser1204Thr)
c.3623G>C (p.Ser1208Thr)
c.3596G>C (p.Ser1199Thr)
c.3542G>C (p.Ser1181Thr)
c.2942G>C (p.Ser981Thr)
c.3890G>C (p.Ser1297Thr)
c.3887G>C (p.Ser1296Thr)
c.3806G>C (p.Ser1269Thr)
c.3737G>C (p.Ser1246Thr)
c.3605G>C (p.Ser1202Thr)
c.3473G>C (p.Ser1158Thr)
20g.32436338G>TCA408563454ASXL1c.3626G>T (p.Ser1209Ile)
c.3443G>T (p.Ser1148Ile)
n.5979G>T
c.1869+1757G>T (n.1869+1757G>T)
c.3611G>T (p.Ser1204Ile)
c.3623G>T (p.Ser1208Ile)
c.3596G>T (p.Ser1199Ile)
c.3542G>T (p.Ser1181Ile)
c.2942G>T (p.Ser981Ile)
c.3890G>T (p.Ser1297Ile)
c.3887G>T (p.Ser1296Ile)
c.3806G>T (p.Ser1269Ile)
c.3737G>T (p.Ser1246Ile)
c.3605G>T (p.Ser1202Ile)
c.3473G>T (p.Ser1158Ile)
 gnomAD v4
20g.32436339T>ACA408563456ASXL1c.3627T>A (p.Ser1209Arg)
c.3444T>A (p.Ser1148Arg)
n.5980T>A
c.1869+1758T>A (n.1869+1758T>A)
c.3612T>A (p.Ser1204Arg)
c.3624T>A (p.Ser1208Arg)
c.3597T>A (p.Ser1199Arg)
c.3543T>A (p.Ser1181Arg)
c.2943T>A (p.Ser981Arg)
c.3891T>A (p.Ser1297Arg)
c.3888T>A (p.Ser1296Arg)
c.3807T>A (p.Ser1269Arg)
c.3738T>A (p.Ser1246Arg)
c.3606T>A (p.Ser1202Arg)
c.3474T>A (p.Ser1158Arg)
 dbSNP
20g.32436339T>CCA510467369ASXL1c.3627T>C (p.Ser1209=)
c.3444T>C (p.Ser1148=)
n.5980T>C
c.1869+1758T>C (n.1869+1758T>C)
c.3612T>C (p.Ser1204=)
c.3624T>C (p.Ser1208=)
c.3597T>C (p.Ser1199=)
c.3543T>C (p.Ser1181=)
c.2943T>C (p.Ser981=)
c.3891T>C (p.Ser1297=)
c.3888T>C (p.Ser1296=)
c.3807T>C (p.Ser1269=)
c.3738T>C (p.Ser1246=)
c.3606T>C (p.Ser1202=)
c.3474T>C (p.Ser1158=)
20g.32436339T>GCA408563457ASXL1c.3627T>G (p.Ser1209Arg)
c.3444T>G (p.Ser1148Arg)
n.5980T>G
c.1869+1758T>G (n.1869+1758T>G)
c.3612T>G (p.Ser1204Arg)
c.3624T>G (p.Ser1208Arg)
c.3597T>G (p.Ser1199Arg)
c.3543T>G (p.Ser1181Arg)
c.2943T>G (p.Ser981Arg)
c.3891T>G (p.Ser1297Arg)
c.3888T>G (p.Ser1296Arg)
c.3807T>G (p.Ser1269Arg)
c.3738T>G (p.Ser1246Arg)
c.3606T>G (p.Ser1202Arg)
c.3474T>G (p.Ser1158Arg)
20g.32436340T>ACA408563458ASXL1c.3628T>A (p.Phe1210Ile)
c.3445T>A (p.Phe1149Ile)
n.5981T>A
c.1869+1759T>A (n.1869+1759T>A)
c.3613T>A (p.Phe1205Ile)
c.3625T>A (p.Phe1209Ile)
c.3598T>A (p.Phe1200Ile)
c.3544T>A (p.Phe1182Ile)
c.2944T>A (p.Phe982Ile)
c.3892T>A (p.Phe1298Ile)
c.3889T>A (p.Phe1297Ile)
c.3808T>A (p.Phe1270Ile)
c.3739T>A (p.Phe1247Ile)
c.3607T>A (p.Phe1203Ile)
c.3475T>A (p.Phe1159Ile)
20g.32436340T>CCA408563459ASXL1c.3628T>C (p.Phe1210Leu)
c.3445T>C (p.Phe1149Leu)
n.5981T>C
c.1869+1759T>C (n.1869+1759T>C)
c.3613T>C (p.Phe1205Leu)
c.3625T>C (p.Phe1209Leu)
c.3598T>C (p.Phe1200Leu)
c.3544T>C (p.Phe1182Leu)
c.2944T>C (p.Phe982Leu)
c.3892T>C (p.Phe1298Leu)
c.3889T>C (p.Phe1297Leu)
c.3808T>C (p.Phe1270Leu)
c.3739T>C (p.Phe1247Leu)
c.3607T>C (p.Phe1203Leu)
c.3475T>C (p.Phe1159Leu)
20g.32436340T>GCA408563460ASXL1c.3628T>G (p.Phe1210Val)
c.3445T>G (p.Phe1149Val)
n.5981T>G
c.1869+1759T>G (n.1869+1759T>G)
c.3613T>G (p.Phe1205Val)
c.3625T>G (p.Phe1209Val)
c.3598T>G (p.Phe1200Val)
c.3544T>G (p.Phe1182Val)
c.2944T>G (p.Phe982Val)
c.3892T>G (p.Phe1298Val)
c.3889T>G (p.Phe1297Val)
c.3808T>G (p.Phe1270Val)
c.3739T>G (p.Phe1247Val)
c.3607T>G (p.Phe1203Val)
c.3475T>G (p.Phe1159Val)
 gnomAD v4
20g.32436341T>ACA408563461ASXL1c.3629T>A (p.Phe1210Tyr)
c.3446T>A (p.Phe1149Tyr)
n.5982T>A
c.1869+1760T>A (n.1869+1760T>A)
c.3614T>A (p.Phe1205Tyr)
c.3626T>A (p.Phe1209Tyr)
c.3599T>A (p.Phe1200Tyr)
c.3545T>A (p.Phe1182Tyr)
c.2945T>A (p.Phe982Tyr)
c.3893T>A (p.Phe1298Tyr)
c.3890T>A (p.Phe1297Tyr)
c.3809T>A (p.Phe1270Tyr)
c.3740T>A (p.Phe1247Tyr)
c.3608T>A (p.Phe1203Tyr)
c.3476T>A (p.Phe1159Tyr)
20g.32436341T>CCA408563462ASXL1c.3629T>C (p.Phe1210Ser)
c.3446T>C (p.Phe1149Ser)
n.5982T>C
c.1869+1760T>C (n.1869+1760T>C)
c.3614T>C (p.Phe1205Ser)
c.3626T>C (p.Phe1209Ser)
c.3599T>C (p.Phe1200Ser)
c.3545T>C (p.Phe1182Ser)
c.2945T>C (p.Phe982Ser)
c.3893T>C (p.Phe1298Ser)
c.3890T>C (p.Phe1297Ser)
c.3809T>C (p.Phe1270Ser)
c.3740T>C (p.Phe1247Ser)
c.3608T>C (p.Phe1203Ser)
c.3476T>C (p.Phe1159Ser)
20g.32436341T>GCA408563463ASXL1c.3629T>G (p.Phe1210Cys)
c.3446T>G (p.Phe1149Cys)
n.5982T>G
c.1869+1760T>G (n.1869+1760T>G)
c.3614T>G (p.Phe1205Cys)
c.3626T>G (p.Phe1209Cys)
c.3599T>G (p.Phe1200Cys)
c.3545T>G (p.Phe1182Cys)
c.2945T>G (p.Phe982Cys)
c.3893T>G (p.Phe1298Cys)
c.3890T>G (p.Phe1297Cys)
c.3809T>G (p.Phe1270Cys)
c.3740T>G (p.Phe1247Cys)
c.3608T>G (p.Phe1203Cys)
c.3476T>G (p.Phe1159Cys)
20g.32436342T>ACA408563464ASXL1c.3630T>A (p.Phe1210Leu)
c.3447T>A (p.Phe1149Leu)
n.5983T>A
c.1869+1761T>A (n.1869+1761T>A)
c.3615T>A (p.Phe1205Leu)
c.3627T>A (p.Phe1209Leu)
c.3600T>A (p.Phe1200Leu)
c.3546T>A (p.Phe1182Leu)
c.2946T>A (p.Phe982Leu)
c.3894T>A (p.Phe1298Leu)
c.3891T>A (p.Phe1297Leu)
c.3810T>A (p.Phe1270Leu)
c.3741T>A (p.Phe1247Leu)
c.3609T>A (p.Phe1203Leu)
c.3477T>A (p.Phe1159Leu)
20g.32436342T>CCA9808866ASXL1c.3630T>C (p.Phe1210=)
c.3447T>C (p.Phe1149=)
n.5983T>C
c.1869+1761T>C (n.1869+1761T>C)
c.3615T>C (p.Phe1205=)
c.3627T>C (p.Phe1209=)
c.3600T>C (p.Phe1200=)
c.3546T>C (p.Phe1182=)
c.2946T>C (p.Phe982=)
c.3894T>C (p.Phe1298=)
c.3891T>C (p.Phe1297=)
c.3810T>C (p.Phe1270=)
c.3741T>C (p.Phe1247=)
c.3609T>C (p.Phe1203=)
c.3477T>C (p.Phe1159=)
 dbSNP ExAC gnomAD v2
20g.32436342T>GCA408563465ASXL1c.3630T>G (p.Phe1210Leu)
c.3447T>G (p.Phe1149Leu)
n.5983T>G
c.1869+1761T>G (n.1869+1761T>G)
c.3615T>G (p.Phe1205Leu)
c.3627T>G (p.Phe1209Leu)
c.3600T>G (p.Phe1200Leu)
c.3546T>G (p.Phe1182Leu)
c.2946T>G (p.Phe982Leu)
c.3894T>G (p.Phe1298Leu)
c.3891T>G (p.Phe1297Leu)
c.3810T>G (p.Phe1270Leu)
c.3741T>G (p.Phe1247Leu)
c.3609T>G (p.Phe1203Leu)
c.3477T>G (p.Phe1159Leu)
20g.32436342T=CA2360293653ASXL1c.3630T= (p.Phe1210=)
c.3447T= (p.Phe1149=)
n.5983T=
c.1869+1761T= (n.1869+1761T=)
c.3615T= (p.Phe1205=)
c.3627T= (p.Phe1209=)
c.3600T= (p.Phe1200=)
c.3546T= (p.Phe1182=)
c.2946T= (p.Phe982=)
c.3894T= (p.Phe1298=)
c.3891T= (p.Phe1297=)
c.3810T= (p.Phe1270=)
c.3741T= (p.Phe1247=)
c.3609T= (p.Phe1203=)
c.3477T= (p.Phe1159=)
20g.32436343G>ACA408563466ASXL1c.3631G>A (p.Asp1211Asn)
c.3448G>A (p.Asp1150Asn)
n.5984G>A
c.1869+1762G>A (n.1869+1762G>A)
c.3616G>A (p.Asp1206Asn)
c.3628G>A (p.Asp1210Asn)
c.3601G>A (p.Asp1201Asn)
c.3547G>A (p.Asp1183Asn)
c.2947G>A (p.Asp983Asn)
c.3895G>A (p.Asp1299Asn)
c.3892G>A (p.Asp1298Asn)
c.3811G>A (p.Asp1271Asn)
c.3742G>A (p.Asp1248Asn)
c.3610G>A (p.Asp1204Asn)
c.3478G>A (p.Asp1160Asn)
20g.32436343G>CCA408563467ASXL1c.3631G>C (p.Asp1211His)
c.3448G>C (p.Asp1150His)
n.5984G>C
c.1869+1762G>C (n.1869+1762G>C)
c.3616G>C (p.Asp1206His)
c.3628G>C (p.Asp1210His)
c.3601G>C (p.Asp1201His)
c.3547G>C (p.Asp1183His)
c.2947G>C (p.Asp983His)
c.3895G>C (p.Asp1299His)
c.3892G>C (p.Asp1298His)
c.3811G>C (p.Asp1271His)
c.3742G>C (p.Asp1248His)
c.3610G>C (p.Asp1204His)
c.3478G>C (p.Asp1160His)
20g.32436343G>TCA408563468ASXL1c.3631G>T (p.Asp1211Tyr)
c.3448G>T (p.Asp1150Tyr)
n.5984G>T
c.1869+1762G>T (n.1869+1762G>T)
c.3616G>T (p.Asp1206Tyr)
c.3628G>T (p.Asp1210Tyr)
c.3601G>T (p.Asp1201Tyr)
c.3547G>T (p.Asp1183Tyr)
c.2947G>T (p.Asp983Tyr)
c.3895G>T (p.Asp1299Tyr)
c.3892G>T (p.Asp1298Tyr)
c.3811G>T (p.Asp1271Tyr)
c.3742G>T (p.Asp1248Tyr)
c.3610G>T (p.Asp1204Tyr)
c.3478G>T (p.Asp1160Tyr)
 gnomAD v4
20g.32436344delCA645612968ASXL1c.3632del (p.Asp1211AlafsTer6)
c.3449del (p.Asp1150AlafsTer6)
n.5985del
c.1869+1763del (n.1869+1763del)
c.3617del (p.Asp1206AlafsTer6)
c.3629del (p.Asp1210AlafsTer6)
c.3602del (p.Asp1201AlafsTer6)
c.3548del (p.Asp1183AlafsTer6)
c.2948del (p.Asp983AlafsTer6)
c.3896del (p.Asp1299AlafsTer6)
c.3893del (p.Asp1298AlafsTer6)
c.3812del (p.Asp1271AlafsTer6)
c.3743del (p.Asp1248AlafsTer6)
c.3611del (p.Asp1204AlafsTer6)
c.3479del (p.Asp1160AlafsTer6)
 COSMIC COSMIC
20g.32436344A>CCA408563471ASXL1c.3632A>C (p.Asp1211Ala)
c.3449A>C (p.Asp1150Ala)
n.5985A>C
c.1869+1763A>C (n.1869+1763A>C)
c.3617A>C (p.Asp1206Ala)
c.3629A>C (p.Asp1210Ala)
c.3602A>C (p.Asp1201Ala)
c.3548A>C (p.Asp1183Ala)
c.2948A>C (p.Asp983Ala)
c.3896A>C (p.Asp1299Ala)
c.3893A>C (p.Asp1298Ala)
c.3812A>C (p.Asp1271Ala)
c.3743A>C (p.Asp1248Ala)
c.3611A>C (p.Asp1204Ala)
c.3479A>C (p.Asp1160Ala)
20g.32436344A>GCA408563470ASXL1c.3632A>G (p.Asp1211Gly)
c.3449A>G (p.Asp1150Gly)
n.5985A>G
c.1869+1763A>G (n.1869+1763A>G)
c.3617A>G (p.Asp1206Gly)
c.3629A>G (p.Asp1210Gly)
c.3602A>G (p.Asp1201Gly)
c.3548A>G (p.Asp1183Gly)
c.2948A>G (p.Asp983Gly)
c.3896A>G (p.Asp1299Gly)
c.3893A>G (p.Asp1298Gly)
c.3812A>G (p.Asp1271Gly)
c.3743A>G (p.Asp1248Gly)
c.3611A>G (p.Asp1204Gly)
c.3479A>G (p.Asp1160Gly)
20g.32436344A>TCA408563469ASXL1c.3632A>T (p.Asp1211Val)
c.3449A>T (p.Asp1150Val)
n.5985A>T
c.1869+1763A>T (n.1869+1763A>T)
c.3617A>T (p.Asp1206Val)
c.3629A>T (p.Asp1210Val)
c.3602A>T (p.Asp1201Val)
c.3548A>T (p.Asp1183Val)
c.2948A>T (p.Asp983Val)
c.3896A>T (p.Asp1299Val)
c.3893A>T (p.Asp1298Val)
c.3812A>T (p.Asp1271Val)
c.3743A>T (p.Asp1248Val)
c.3611A>T (p.Asp1204Val)
c.3479A>T (p.Asp1160Val)
 dbSNP
20g.32436344_32436348delinsACTCCCA2360293654ASXL1c.3632_3636delinsACTCC (p.Asp1211=)
c.3449_3453delinsACTCC (p.Asp1150=)
n.5985_5989delinsACTCC
c.1869+1763_1869+1767delinsACTCC (n.1869+1763_1869+1767delinsACTCC)
c.3617_3621delinsACTCC (p.Asp1206=)
c.3629_3633delinsACTCC (p.Asp1210=)
c.3602_3606delinsACTCC (p.Asp1201=)
c.3548_3552delinsACTCC (p.Asp1183=)
c.2948_2952delinsACTCC (p.Asp983=)
c.3896_3900delinsACTCC (p.Asp1299=)
c.3893_3897delinsACTCC (p.Asp1298=)
c.3812_3816delinsACTCC (p.Asp1271=)
c.3743_3747delinsACTCC (p.Asp1248=)
c.3611_3615delinsACTCC (p.Asp1204=)
c.3479_3483delinsACTCC (p.Asp1160=)
20g.32436345C>ACA408563472ASXL1c.3633C>A (p.Asp1211Glu)
c.3450C>A (p.Asp1150Glu)
n.5986C>A
c.1869+1764C>A (n.1869+1764C>A)
c.3618C>A (p.Asp1206Glu)
c.3630C>A (p.Asp1210Glu)
c.3603C>A (p.Asp1201Glu)
c.3549C>A (p.Asp1183Glu)
c.2949C>A (p.Asp983Glu)
c.3897C>A (p.Asp1299Glu)
c.3894C>A (p.Asp1298Glu)
c.3813C>A (p.Asp1271Glu)
c.3744C>A (p.Asp1248Glu)
c.3612C>A (p.Asp1204Glu)
c.3480C>A (p.Asp1160Glu)
 COSMIC
20g.32436345C=CA2360293655ASXL1c.3633C= (p.Asp1211=)
c.3450C= (p.Asp1150=)
n.5986C=
c.1869+1764C= (n.1869+1764C=)
c.3618C= (p.Asp1206=)
c.3630C= (p.Asp1210=)
c.3603C= (p.Asp1201=)
c.3549C= (p.Asp1183=)
c.2949C= (p.Asp983=)
c.3897C= (p.Asp1299=)
c.3894C= (p.Asp1298=)
c.3813C= (p.Asp1271=)
c.3744C= (p.Asp1248=)
c.3612C= (p.Asp1204=)
c.3480C= (p.Asp1160=)
20g.32436345C>GCA408563473ASXL1c.3633C>G (p.Asp1211Glu)
c.3450C>G (p.Asp1150Glu)
n.5986C>G
c.1869+1764C>G (n.1869+1764C>G)
c.3618C>G (p.Asp1206Glu)
c.3630C>G (p.Asp1210Glu)
c.3603C>G (p.Asp1201Glu)
c.3549C>G (p.Asp1183Glu)
c.2949C>G (p.Asp983Glu)
c.3897C>G (p.Asp1299Glu)
c.3894C>G (p.Asp1298Glu)
c.3813C>G (p.Asp1271Glu)
c.3744C>G (p.Asp1248Glu)
c.3612C>G (p.Asp1204Glu)
c.3480C>G (p.Asp1160Glu)
20g.32436345C>TCA9808867ASXL1c.3633C>T (p.Asp1211=)
c.3450C>T (p.Asp1150=)
n.5986C>T
c.1869+1764C>T (n.1869+1764C>T)
c.3618C>T (p.Asp1206=)
c.3630C>T (p.Asp1210=)
c.3603C>T (p.Asp1201=)
c.3549C>T (p.Asp1183=)
c.2949C>T (p.Asp983=)
c.3897C>T (p.Asp1299=)
c.3894C>T (p.Asp1298=)
c.3813C>T (p.Asp1271=)
c.3744C>T (p.Asp1248=)
c.3612C>T (p.Asp1204=)
c.3480C>T (p.Asp1160=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436349_32436352dupCA2577366315ASXL1c.3637_3640dup (p.His1214ProfsTer12)
c.3454_3457dup (p.His1153ProfsTer12)
n.5990_5993dup
c.1869+1768_1869+1771dup (n.1869+1768_1869+1771dup)
c.3622_3625dup (p.His1209ProfsTer12)
c.3634_3637dup (p.His1213ProfsTer12)
c.3607_3610dup (p.His1204ProfsTer12)
c.3553_3556dup (p.His1186ProfsTer12)
c.2953_2956dup (p.His986ProfsTer12)
c.3901_3904dup (p.His1302ProfsTer12)
c.3898_3901dup (p.His1301ProfsTer12)
c.3817_3820dup (p.His1274ProfsTer12)
c.3748_3751dup (p.His1251ProfsTer12)
c.3616_3619dup (p.His1207ProfsTer12)
c.3484_3487dup (p.His1163ProfsTer12)
20g.32436349_32436352delCA645612969ASXL1c.3637_3640del (p.Leu1213IlefsTer3)
c.3454_3457del (p.Leu1152IlefsTer3)
n.5990_5993del
c.1869+1768_1869+1771del (n.1869+1768_1869+1771del)
c.3622_3625del (p.Leu1208IlefsTer3)
c.3634_3637del (p.Leu1212IlefsTer3)
c.3607_3610del (p.Leu1203IlefsTer3)
c.3553_3556del (p.Leu1185IlefsTer3)
c.2953_2956del (p.Leu985IlefsTer3)
c.3901_3904del (p.Leu1301IlefsTer3)
c.3898_3901del (p.Leu1300IlefsTer3)
c.3817_3820del (p.Leu1273IlefsTer3)
c.3748_3751del (p.Leu1250IlefsTer3)
c.3616_3619del (p.Leu1206IlefsTer3)
c.3484_3487del (p.Leu1162IlefsTer3)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
20g.32436346T>ACA408563474ASXL1c.3634T>A (p.Ser1212Thr)
c.3451T>A (p.Ser1151Thr)
n.5987T>A
c.1869+1765T>A (n.1869+1765T>A)
c.3619T>A (p.Ser1207Thr)
c.3631T>A (p.Ser1211Thr)
c.3604T>A (p.Ser1202Thr)
c.3550T>A (p.Ser1184Thr)
c.2950T>A (p.Ser984Thr)
c.3898T>A (p.Ser1300Thr)
c.3895T>A (p.Ser1299Thr)
c.3814T>A (p.Ser1272Thr)
c.3745T>A (p.Ser1249Thr)
c.3613T>A (p.Ser1205Thr)
c.3481T>A (p.Ser1161Thr)
20g.32436346T>CCA408563475ASXL1c.3634T>C (p.Ser1212Pro)
c.3451T>C (p.Ser1151Pro)
n.5987T>C
c.1869+1765T>C (n.1869+1765T>C)
c.3619T>C (p.Ser1207Pro)
c.3631T>C (p.Ser1211Pro)
c.3604T>C (p.Ser1202Pro)
c.3550T>C (p.Ser1184Pro)
c.2950T>C (p.Ser984Pro)
c.3898T>C (p.Ser1300Pro)
c.3895T>C (p.Ser1299Pro)
c.3814T>C (p.Ser1272Pro)
c.3745T>C (p.Ser1249Pro)
c.3613T>C (p.Ser1205Pro)
c.3481T>C (p.Ser1161Pro)
 dbSNP
20g.32436346T>GCA408563476ASXL1c.3634T>G (p.Ser1212Ala)
c.3451T>G (p.Ser1151Ala)
n.5987T>G
c.1869+1765T>G (n.1869+1765T>G)
c.3619T>G (p.Ser1207Ala)
c.3631T>G (p.Ser1211Ala)
c.3604T>G (p.Ser1202Ala)
c.3550T>G (p.Ser1184Ala)
c.2950T>G (p.Ser984Ala)
c.3898T>G (p.Ser1300Ala)
c.3895T>G (p.Ser1299Ala)
c.3814T>G (p.Ser1272Ala)
c.3745T>G (p.Ser1249Ala)
c.3613T>G (p.Ser1205Ala)
c.3481T>G (p.Ser1161Ala)
20g.32436346T=CA2360293657ASXL1c.3634T= (p.Ser1212=)
c.3451T= (p.Ser1151=)
n.5987T=
c.1869+1765T= (n.1869+1765T=)
c.3619T= (p.Ser1207=)
c.3631T= (p.Ser1211=)
c.3604T= (p.Ser1202=)
c.3550T= (p.Ser1184=)
c.2950T= (p.Ser984=)
c.3898T= (p.Ser1300=)
c.3895T= (p.Ser1299=)
c.3814T= (p.Ser1272=)
c.3745T= (p.Ser1249=)
c.3613T= (p.Ser1205=)
c.3481T= (p.Ser1161=)
20g.32436346_32436347delinsTCCA2360293656ASXL1c.3634_3635delinsTC (p.Ser1212=)
c.3451_3452delinsTC (p.Ser1151=)
n.5987_5988delinsTC
c.1869+1765_1869+1766delinsTC (n.1869+1765_1869+1766delinsTC)
c.3619_3620delinsTC (p.Ser1207=)
c.3631_3632delinsTC (p.Ser1211=)
c.3604_3605delinsTC (p.Ser1202=)
c.3550_3551delinsTC (p.Ser1184=)
c.2950_2951delinsTC (p.Ser984=)
c.3898_3899delinsTC (p.Ser1300=)
c.3895_3896delinsTC (p.Ser1299=)
c.3814_3815delinsTC (p.Ser1272=)
c.3745_3746delinsTC (p.Ser1249=)
c.3613_3614delinsTC (p.Ser1205=)
c.3481_3482delinsTC (p.Ser1161=)
20g.32436347C>ACA408563477ASXL1c.3635C>A (p.Ser1212Tyr)
c.3452C>A (p.Ser1151Tyr)
n.5988C>A
c.1869+1766C>A (n.1869+1766C>A)
c.3620C>A (p.Ser1207Tyr)
c.3632C>A (p.Ser1211Tyr)
c.3605C>A (p.Ser1202Tyr)
c.3551C>A (p.Ser1184Tyr)
c.2951C>A (p.Ser984Tyr)
c.3899C>A (p.Ser1300Tyr)
c.3896C>A (p.Ser1299Tyr)
c.3815C>A (p.Ser1272Tyr)
c.3746C>A (p.Ser1249Tyr)
c.3614C>A (p.Ser1205Tyr)
c.3482C>A (p.Ser1161Tyr)
20g.32436347C=CA2360293658ASXL1c.3635C= (p.Ser1212=)
c.3452C= (p.Ser1151=)
n.5988C=
c.1869+1766C= (n.1869+1766C=)
c.3620C= (p.Ser1207=)
c.3632C= (p.Ser1211=)
c.3605C= (p.Ser1202=)
c.3551C= (p.Ser1184=)
c.2951C= (p.Ser984=)
c.3899C= (p.Ser1300=)
c.3896C= (p.Ser1299=)
c.3815C= (p.Ser1272=)
c.3746C= (p.Ser1249=)
c.3614C= (p.Ser1205=)
c.3482C= (p.Ser1161=)
20g.32436347C>GCA408563478ASXL1c.3635C>G (p.Ser1212Cys)
c.3452C>G (p.Ser1151Cys)
n.5988C>G
c.1869+1766C>G (n.1869+1766C>G)
c.3620C>G (p.Ser1207Cys)
c.3632C>G (p.Ser1211Cys)
c.3605C>G (p.Ser1202Cys)
c.3551C>G (p.Ser1184Cys)
c.2951C>G (p.Ser984Cys)
c.3899C>G (p.Ser1300Cys)
c.3896C>G (p.Ser1299Cys)
c.3815C>G (p.Ser1272Cys)
c.3746C>G (p.Ser1249Cys)
c.3614C>G (p.Ser1205Cys)
c.3482C>G (p.Ser1161Cys)
 gnomAD v4
20g.32436347C>TCA236150ASXL1c.3635C>T (p.Ser1212Phe)
c.3452C>T (p.Ser1151Phe)
n.5988C>T
c.1869+1766C>T (n.1869+1766C>T)
c.3620C>T (p.Ser1207Phe)
c.3632C>T (p.Ser1211Phe)
c.3605C>T (p.Ser1202Phe)
c.3551C>T (p.Ser1184Phe)
c.2951C>T (p.Ser984Phe)
c.3899C>T (p.Ser1300Phe)
c.3896C>T (p.Ser1299Phe)
c.3815C>T (p.Ser1272Phe)
c.3746C>T (p.Ser1249Phe)
c.3614C>T (p.Ser1205Phe)
c.3482C>T (p.Ser1161Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.32436349delCA645612970ASXL1c.3637del (p.Leu1213SerfsTer4)
c.3454del (p.Leu1152SerfsTer4)
n.5990del
c.1869+1768del (n.1869+1768del)
c.3622del (p.Leu1208SerfsTer4)
c.3634del (p.Leu1212SerfsTer4)
c.3607del (p.Leu1203SerfsTer4)
c.3553del (p.Leu1185SerfsTer4)
c.2953del (p.Leu985SerfsTer4)
c.3901del (p.Leu1301SerfsTer4)
c.3898del (p.Leu1300SerfsTer4)
c.3817del (p.Leu1273SerfsTer4)
c.3748del (p.Leu1250SerfsTer4)
c.3616del (p.Leu1206SerfsTer4)
c.3484del (p.Leu1162SerfsTer4)
 ClinVar dbSNP COSMIC COSMIC
20g.32436348C>ACA510467370ASXL1c.3636C>A (p.Ser1212=)
c.3453C>A (p.Ser1151=)
n.5989C>A
c.1869+1767C>A (n.1869+1767C>A)
c.3621C>A (p.Ser1207=)
c.3633C>A (p.Ser1211=)
c.3606C>A (p.Ser1202=)
c.3552C>A (p.Ser1184=)
c.2952C>A (p.Ser984=)
c.3900C>A (p.Ser1300=)
c.3897C>A (p.Ser1299=)
c.3816C>A (p.Ser1272=)
c.3747C>A (p.Ser1249=)
c.3615C>A (p.Ser1205=)
c.3483C>A (p.Ser1161=)
 dbSNP gnomAD v3 gnomAD v4
20g.32436348C=CA2360293659ASXL1c.3636C= (p.Ser1212=)
c.3453C= (p.Ser1151=)
n.5989C=
c.1869+1767C= (n.1869+1767C=)
c.3621C= (p.Ser1207=)
c.3633C= (p.Ser1211=)
c.3606C= (p.Ser1202=)
c.3552C= (p.Ser1184=)
c.2952C= (p.Ser984=)
c.3900C= (p.Ser1300=)
c.3897C= (p.Ser1299=)
c.3816C= (p.Ser1272=)
c.3747C= (p.Ser1249=)
c.3615C= (p.Ser1205=)
c.3483C= (p.Ser1161=)
20g.32436348C>GCA510467371ASXL1c.3636C>G (p.Ser1212=)
c.3453C>G (p.Ser1151=)
n.5989C>G
c.1869+1767C>G (n.1869+1767C>G)
c.3621C>G (p.Ser1207=)
c.3633C>G (p.Ser1211=)
c.3606C>G (p.Ser1202=)
c.3552C>G (p.Ser1184=)
c.2952C>G (p.Ser984=)
c.3900C>G (p.Ser1300=)
c.3897C>G (p.Ser1299=)
c.3816C>G (p.Ser1272=)
c.3747C>G (p.Ser1249=)
c.3615C>G (p.Ser1205=)
c.3483C>G (p.Ser1161=)
20g.32436348C>TCA510467372ASXL1c.3636C>T (p.Ser1212=)
c.3453C>T (p.Ser1151=)
n.5989C>T
c.1869+1767C>T (n.1869+1767C>T)
c.3621C>T (p.Ser1207=)
c.3633C>T (p.Ser1211=)
c.3606C>T (p.Ser1202=)
c.3552C>T (p.Ser1184=)
c.2952C>T (p.Ser984=)
c.3900C>T (p.Ser1300=)
c.3897C>T (p.Ser1299=)
c.3816C>T (p.Ser1272=)
c.3747C>T (p.Ser1249=)
c.3615C>T (p.Ser1205=)
c.3483C>T (p.Ser1161=)
 dbSNP gnomAD v4
20g.32436349C>ACA408563479ASXL1c.3637C>A (p.Leu1213Ile)
c.3454C>A (p.Leu1152Ile)
n.5990C>A
c.1869+1768C>A (n.1869+1768C>A)
c.3622C>A (p.Leu1208Ile)
c.3634C>A (p.Leu1212Ile)
c.3607C>A (p.Leu1203Ile)
c.3553C>A (p.Leu1185Ile)
c.2953C>A (p.Leu985Ile)
c.3901C>A (p.Leu1301Ile)
c.3898C>A (p.Leu1300Ile)
c.3817C>A (p.Leu1273Ile)
c.3748C>A (p.Leu1250Ile)
c.3616C>A (p.Leu1206Ile)
c.3484C>A (p.Leu1162Ile)
 dbSNP
20g.32436349C=CA2360293660ASXL1c.3637C= (p.Leu1213=)
c.3454C= (p.Leu1152=)
n.5990C=
c.1869+1768C= (n.1869+1768C=)
c.3622C= (p.Leu1208=)
c.3634C= (p.Leu1212=)
c.3607C= (p.Leu1203=)
c.3553C= (p.Leu1185=)
c.2953C= (p.Leu985=)
c.3901C= (p.Leu1301=)
c.3898C= (p.Leu1300=)
c.3817C= (p.Leu1273=)
c.3748C= (p.Leu1250=)
c.3616C= (p.Leu1206=)
c.3484C= (p.Leu1162=)
20g.32436349C>GCA408563480ASXL1c.3637C>G (p.Leu1213Val)
c.3454C>G (p.Leu1152Val)
n.5990C>G
c.1869+1768C>G (n.1869+1768C>G)
c.3622C>G (p.Leu1208Val)
c.3634C>G (p.Leu1212Val)
c.3607C>G (p.Leu1203Val)
c.3553C>G (p.Leu1185Val)
c.2953C>G (p.Leu985Val)
c.3901C>G (p.Leu1301Val)
c.3898C>G (p.Leu1300Val)
c.3817C>G (p.Leu1273Val)
c.3748C>G (p.Leu1250Val)
c.3616C>G (p.Leu1206Val)
c.3484C>G (p.Leu1162Val)
 dbSNP gnomAD v4
20g.32436349C>TCA408563481ASXL1c.3637C>T (p.Leu1213Phe)
c.3454C>T (p.Leu1152Phe)
n.5990C>T
c.1869+1768C>T (n.1869+1768C>T)
c.3622C>T (p.Leu1208Phe)
c.3634C>T (p.Leu1212Phe)
c.3607C>T (p.Leu1203Phe)
c.3553C>T (p.Leu1185Phe)
c.2953C>T (p.Leu985Phe)
c.3901C>T (p.Leu1301Phe)
c.3898C>T (p.Leu1300Phe)
c.3817C>T (p.Leu1273Phe)
c.3748C>T (p.Leu1250Phe)
c.3616C>T (p.Leu1206Phe)
c.3484C>T (p.Leu1162Phe)
 gnomAD v4
20g.32436350T>ACA408563484ASXL1c.3638T>A (p.Leu1213His)
c.3455T>A (p.Leu1152His)
n.5991T>A
c.1869+1769T>A (n.1869+1769T>A)
c.3623T>A (p.Leu1208His)
c.3635T>A (p.Leu1212His)
c.3608T>A (p.Leu1203His)
c.3554T>A (p.Leu1185His)
c.2954T>A (p.Leu985His)
c.3902T>A (p.Leu1301His)
c.3899T>A (p.Leu1300His)
c.3818T>A (p.Leu1273His)
c.3749T>A (p.Leu1250His)
c.3617T>A (p.Leu1206His)
c.3485T>A (p.Leu1162His)
20g.32436350T>CCA408563483ASXL1c.3638T>C (p.Leu1213Pro)
c.3455T>C (p.Leu1152Pro)
n.5991T>C
c.1869+1769T>C (n.1869+1769T>C)
c.3623T>C (p.Leu1208Pro)
c.3635T>C (p.Leu1212Pro)
c.3608T>C (p.Leu1203Pro)
c.3554T>C (p.Leu1185Pro)
c.2954T>C (p.Leu985Pro)
c.3902T>C (p.Leu1301Pro)
c.3899T>C (p.Leu1300Pro)
c.3818T>C (p.Leu1273Pro)
c.3749T>C (p.Leu1250Pro)
c.3617T>C (p.Leu1206Pro)
c.3485T>C (p.Leu1162Pro)
20g.32436350T>GCA408563482ASXL1c.3638T>G (p.Leu1213Arg)
c.3455T>G (p.Leu1152Arg)
n.5991T>G
c.1869+1769T>G (n.1869+1769T>G)
c.3623T>G (p.Leu1208Arg)
c.3635T>G (p.Leu1212Arg)
c.3608T>G (p.Leu1203Arg)
c.3554T>G (p.Leu1185Arg)
c.2954T>G (p.Leu985Arg)
c.3902T>G (p.Leu1301Arg)
c.3899T>G (p.Leu1300Arg)
c.3818T>G (p.Leu1273Arg)
c.3749T>G (p.Leu1250Arg)
c.3617T>G (p.Leu1206Arg)
c.3485T>G (p.Leu1162Arg)
 dbSNP gnomAD v3 gnomAD v4
20g.32436350T=CA2360293661ASXL1c.3638T= (p.Leu1213=)
c.3455T= (p.Leu1152=)
n.5991T=
c.1869+1769T= (n.1869+1769T=)
c.3623T= (p.Leu1208=)
c.3635T= (p.Leu1212=)
c.3608T= (p.Leu1203=)
c.3554T= (p.Leu1185=)
c.2954T= (p.Leu985=)
c.3902T= (p.Leu1301=)
c.3899T= (p.Leu1300=)
c.3818T= (p.Leu1273=)
c.3749T= (p.Leu1250=)
c.3617T= (p.Leu1206=)
c.3485T= (p.Leu1162=)
20g.32436351C>ACA510467373ASXL1c.3639C>A (p.Leu1213=)
c.3456C>A (p.Leu1152=)
n.5992C>A
c.1869+1770C>A (n.1869+1770C>A)
c.3624C>A (p.Leu1208=)
c.3636C>A (p.Leu1212=)
c.3609C>A (p.Leu1203=)
c.3555C>A (p.Leu1185=)
c.2955C>A (p.Leu985=)
c.3903C>A (p.Leu1301=)
c.3900C>A (p.Leu1300=)
c.3819C>A (p.Leu1273=)
c.3750C>A (p.Leu1250=)
c.3618C>A (p.Leu1206=)
c.3486C>A (p.Leu1162=)
 dbSNP
20g.32436351C=CA2360293662ASXL1c.3639C= (p.Leu1213=)
c.3456C= (p.Leu1152=)
n.5992C=
c.1869+1770C= (n.1869+1770C=)
c.3624C= (p.Leu1208=)
c.3636C= (p.Leu1212=)
c.3609C= (p.Leu1203=)
c.3555C= (p.Leu1185=)
c.2955C= (p.Leu985=)
c.3903C= (p.Leu1301=)
c.3900C= (p.Leu1300=)
c.3819C= (p.Leu1273=)
c.3750C= (p.Leu1250=)
c.3618C= (p.Leu1206=)
c.3486C= (p.Leu1162=)
20g.32436351C>GCA510467374ASXL1c.3639C>G (p.Leu1213=)
c.3456C>G (p.Leu1152=)
n.5992C>G
c.1869+1770C>G (n.1869+1770C>G)
c.3624C>G (p.Leu1208=)
c.3636C>G (p.Leu1212=)
c.3609C>G (p.Leu1203=)
c.3555C>G (p.Leu1185=)
c.2955C>G (p.Leu985=)
c.3903C>G (p.Leu1301=)
c.3900C>G (p.Leu1300=)
c.3819C>G (p.Leu1273=)
c.3750C>G (p.Leu1250=)
c.3618C>G (p.Leu1206=)
c.3486C>G (p.Leu1162=)
20g.32436351C>TCA510467375ASXL1c.3639C>T (p.Leu1213=)
c.3456C>T (p.Leu1152=)
n.5992C>T
c.1869+1770C>T (n.1869+1770C>T)
c.3624C>T (p.Leu1208=)
c.3636C>T (p.Leu1212=)
c.3609C>T (p.Leu1203=)
c.3555C>T (p.Leu1185=)
c.2955C>T (p.Leu985=)
c.3903C>T (p.Leu1301=)
c.3900C>T (p.Leu1300=)
c.3819C>T (p.Leu1273=)
c.3750C>T (p.Leu1250=)
c.3618C>T (p.Leu1206=)
c.3486C>T (p.Leu1162=)
 dbSNP
20g.32436352C>ACA408563485ASXL1c.3640C>A (p.His1214Asn)
c.3457C>A (p.His1153Asn)
n.5993C>A
c.1869+1771C>A (n.1869+1771C>A)
c.3625C>A (p.His1209Asn)
c.3637C>A (p.His1213Asn)
c.3610C>A (p.His1204Asn)
c.3556C>A (p.His1186Asn)
c.2956C>A (p.His986Asn)
c.3904C>A (p.His1302Asn)
c.3901C>A (p.His1301Asn)
c.3820C>A (p.His1274Asn)
c.3751C>A (p.His1251Asn)
c.3619C>A (p.His1207Asn)
c.3487C>A (p.His1163Asn)
20g.32436352C>GCA408563486ASXL1c.3640C>G (p.His1214Asp)
c.3457C>G (p.His1153Asp)
n.5993C>G
c.1869+1771C>G (n.1869+1771C>G)
c.3625C>G (p.His1209Asp)
c.3637C>G (p.His1213Asp)
c.3610C>G (p.His1204Asp)
c.3556C>G (p.His1186Asp)
c.2956C>G (p.His986Asp)
c.3904C>G (p.His1302Asp)
c.3901C>G (p.His1301Asp)
c.3820C>G (p.His1274Asp)
c.3751C>G (p.His1251Asp)
c.3619C>G (p.His1207Asp)
c.3487C>G (p.His1163Asp)
20g.32436352C>TCA408563487ASXL1c.3640C>T (p.His1214Tyr)
c.3457C>T (p.His1153Tyr)
n.5993C>T
c.1869+1771C>T (n.1869+1771C>T)
c.3625C>T (p.His1209Tyr)
c.3637C>T (p.His1213Tyr)
c.3610C>T (p.His1204Tyr)
c.3556C>T (p.His1186Tyr)
c.2956C>T (p.His986Tyr)
c.3904C>T (p.His1302Tyr)
c.3901C>T (p.His1301Tyr)
c.3820C>T (p.His1274Tyr)
c.3751C>T (p.His1251Tyr)
c.3619C>T (p.His1207Tyr)
c.3487C>T (p.His1163Tyr)
20g.32436353A>CCA408563488ASXL1c.3641A>C (p.His1214Pro)
c.3458A>C (p.His1153Pro)
n.5994A>C
c.1869+1772A>C (n.1869+1772A>C)
c.3626A>C (p.His1209Pro)
c.3638A>C (p.His1213Pro)
c.3611A>C (p.His1204Pro)
c.3557A>C (p.His1186Pro)
c.2957A>C (p.His986Pro)
c.3905A>C (p.His1302Pro)
c.3902A>C (p.His1301Pro)
c.3821A>C (p.His1274Pro)
c.3752A>C (p.His1251Pro)
c.3620A>C (p.His1207Pro)
c.3488A>C (p.His1163Pro)
20g.32436353A>GCA408563489ASXL1c.3641A>G (p.His1214Arg)
c.3458A>G (p.His1153Arg)
n.5994A>G
c.1869+1772A>G (n.1869+1772A>G)
c.3626A>G (p.His1209Arg)
c.3638A>G (p.His1213Arg)
c.3611A>G (p.His1204Arg)
c.3557A>G (p.His1186Arg)
c.2957A>G (p.His986Arg)
c.3905A>G (p.His1302Arg)
c.3902A>G (p.His1301Arg)
c.3821A>G (p.His1274Arg)
c.3752A>G (p.His1251Arg)
c.3620A>G (p.His1207Arg)
c.3488A>G (p.His1163Arg)
20g.32436353A>TCA408563490ASXL1c.3641A>T (p.His1214Leu)
c.3458A>T (p.His1153Leu)
n.5994A>T
c.1869+1772A>T (n.1869+1772A>T)
c.3626A>T (p.His1209Leu)
c.3638A>T (p.His1213Leu)
c.3611A>T (p.His1204Leu)
c.3557A>T (p.His1186Leu)
c.2957A>T (p.His986Leu)
c.3905A>T (p.His1302Leu)
c.3902A>T (p.His1301Leu)
c.3821A>T (p.His1274Leu)
c.3752A>T (p.His1251Leu)
c.3620A>T (p.His1207Leu)
c.3488A>T (p.His1163Leu)
20g.32436354T>ACA408563492ASXL1c.3642T>A (p.His1214Gln)
c.3459T>A (p.His1153Gln)
n.5995T>A
c.1869+1773T>A (n.1869+1773T>A)
c.3627T>A (p.His1209Gln)
c.3639T>A (p.His1213Gln)
c.3612T>A (p.His1204Gln)
c.3558T>A (p.His1186Gln)
c.2958T>A (p.His986Gln)
c.3906T>A (p.His1302Gln)
c.3903T>A (p.His1301Gln)
c.3822T>A (p.His1274Gln)
c.3753T>A (p.His1251Gln)
c.3621T>A (p.His1207Gln)
c.3489T>A (p.His1163Gln)
 dbSNP
20g.32436354T>CCA510467376ASXL1c.3642T>C (p.His1214=)
c.3459T>C (p.His1153=)
n.5995T>C
c.1869+1773T>C (n.1869+1773T>C)
c.3627T>C (p.His1209=)
c.3639T>C (p.His1213=)
c.3612T>C (p.His1204=)
c.3558T>C (p.His1186=)
c.2958T>C (p.His986=)
c.3906T>C (p.His1302=)
c.3903T>C (p.His1301=)
c.3822T>C (p.His1274=)
c.3753T>C (p.His1251=)
c.3621T>C (p.His1207=)
c.3489T>C (p.His1163=)
20g.32436354T>GCA408563491ASXL1c.3642T>G (p.His1214Gln)
c.3459T>G (p.His1153Gln)
n.5995T>G
c.1869+1773T>G (n.1869+1773T>G)
c.3627T>G (p.His1209Gln)
c.3639T>G (p.His1213Gln)
c.3612T>G (p.His1204Gln)
c.3558T>G (p.His1186Gln)
c.2958T>G (p.His986Gln)
c.3906T>G (p.His1302Gln)
c.3903T>G (p.His1301Gln)
c.3822T>G (p.His1274Gln)
c.3753T>G (p.His1251Gln)
c.3621T>G (p.His1207Gln)
c.3489T>G (p.His1163Gln)
20g.32436354T=CA2360293663ASXL1c.3642T= (p.His1214=)
c.3459T= (p.His1153=)
n.5995T=
c.1869+1773T= (n.1869+1773T=)
c.3627T= (p.His1209=)
c.3639T= (p.His1213=)
c.3612T= (p.His1204=)
c.3558T= (p.His1186=)
c.2958T= (p.His986=)
c.3906T= (p.His1302=)
c.3903T= (p.His1301=)
c.3822T= (p.His1274=)
c.3753T= (p.His1251=)
c.3621T= (p.His1207=)
c.3489T= (p.His1163=)
20g.32436355C>ACA408563493ASXL1c.3643C>A (p.Pro1215Thr)
c.3460C>A (p.Pro1154Thr)
n.5996C>A
c.1869+1774C>A (n.1869+1774C>A)
c.3628C>A (p.Pro1210Thr)
c.3640C>A (p.Pro1214Thr)
c.3613C>A (p.Pro1205Thr)
c.3559C>A (p.Pro1187Thr)
c.2959C>A (p.Pro987Thr)
c.3907C>A (p.Pro1303Thr)
c.3904C>A (p.Pro1302Thr)
c.3823C>A (p.Pro1275Thr)
c.3754C>A (p.Pro1252Thr)
c.3622C>A (p.Pro1208Thr)
c.3490C>A (p.Pro1164Thr)
20g.32436355C>GCA408563494ASXL1c.3643C>G (p.Pro1215Ala)
c.3460C>G (p.Pro1154Ala)
n.5996C>G
c.1869+1774C>G (n.1869+1774C>G)
c.3628C>G (p.Pro1210Ala)
c.3640C>G (p.Pro1214Ala)
c.3613C>G (p.Pro1205Ala)
c.3559C>G (p.Pro1187Ala)
c.2959C>G (p.Pro987Ala)
c.3907C>G (p.Pro1303Ala)
c.3904C>G (p.Pro1302Ala)
c.3823C>G (p.Pro1275Ala)
c.3754C>G (p.Pro1252Ala)
c.3622C>G (p.Pro1208Ala)
c.3490C>G (p.Pro1164Ala)
 dbSNP
20g.32436355C>TCA408563495ASXL1c.3643C>T (p.Pro1215Ser)
c.3460C>T (p.Pro1154Ser)
n.5996C>T
c.1869+1774C>T (n.1869+1774C>T)
c.3628C>T (p.Pro1210Ser)
c.3640C>T (p.Pro1214Ser)
c.3613C>T (p.Pro1205Ser)
c.3559C>T (p.Pro1187Ser)
c.2959C>T (p.Pro987Ser)
c.3907C>T (p.Pro1303Ser)
c.3904C>T (p.Pro1302Ser)
c.3823C>T (p.Pro1275Ser)
c.3754C>T (p.Pro1252Ser)
c.3622C>T (p.Pro1208Ser)
c.3490C>T (p.Pro1164Ser)
 dbSNP gnomAD v4
20g.32436356C>ACA408563496ASXL1c.3644C>A (p.Pro1215Gln)
c.3461C>A (p.Pro1154Gln)
n.5997C>A
c.1869+1775C>A (n.1869+1775C>A)
c.3629C>A (p.Pro1210Gln)
c.3641C>A (p.Pro1214Gln)
c.3614C>A (p.Pro1205Gln)
c.3560C>A (p.Pro1187Gln)
c.2960C>A (p.Pro987Gln)
c.3908C>A (p.Pro1303Gln)
c.3905C>A (p.Pro1302Gln)
c.3824C>A (p.Pro1275Gln)
c.3755C>A (p.Pro1252Gln)
c.3623C>A (p.Pro1208Gln)
c.3491C>A (p.Pro1164Gln)
20g.32436356C>GCA408563497ASXL1c.3644C>G (p.Pro1215Arg)
c.3461C>G (p.Pro1154Arg)
n.5997C>G
c.1869+1775C>G (n.1869+1775C>G)
c.3629C>G (p.Pro1210Arg)
c.3641C>G (p.Pro1214Arg)
c.3614C>G (p.Pro1205Arg)
c.3560C>G (p.Pro1187Arg)
c.2960C>G (p.Pro987Arg)
c.3908C>G (p.Pro1303Arg)
c.3905C>G (p.Pro1302Arg)
c.3824C>G (p.Pro1275Arg)
c.3755C>G (p.Pro1252Arg)
c.3623C>G (p.Pro1208Arg)
c.3491C>G (p.Pro1164Arg)
20g.32436356C>TCA408563498ASXL1c.3644C>T (p.Pro1215Leu)
c.3461C>T (p.Pro1154Leu)
n.5997C>T
c.1869+1775C>T (n.1869+1775C>T)
c.3629C>T (p.Pro1210Leu)
c.3641C>T (p.Pro1214Leu)
c.3614C>T (p.Pro1205Leu)
c.3560C>T (p.Pro1187Leu)
c.2960C>T (p.Pro987Leu)
c.3908C>T (p.Pro1303Leu)
c.3905C>T (p.Pro1302Leu)
c.3824C>T (p.Pro1275Leu)
c.3755C>T (p.Pro1252Leu)
c.3623C>T (p.Pro1208Leu)
c.3491C>T (p.Pro1164Leu)
20g.32436357A>CCA510467377ASXL1c.3645A>C (p.Pro1215=)
c.3462A>C (p.Pro1154=)
n.5998A>C
c.1869+1776A>C (n.1869+1776A>C)
c.3630A>C (p.Pro1210=)
c.3642A>C (p.Pro1214=)
c.3615A>C (p.Pro1205=)
c.3561A>C (p.Pro1187=)
c.2961A>C (p.Pro987=)
c.3909A>C (p.Pro1303=)
c.3906A>C (p.Pro1302=)
c.3825A>C (p.Pro1275=)
c.3756A>C (p.Pro1252=)
c.3624A>C (p.Pro1208=)
c.3492A>C (p.Pro1164=)
20g.32436357A>GCA510467378ASXL1c.3645A>G (p.Pro1215=)
c.3462A>G (p.Pro1154=)
n.5998A>G
c.1869+1776A>G (n.1869+1776A>G)
c.3630A>G (p.Pro1210=)
c.3642A>G (p.Pro1214=)
c.3615A>G (p.Pro1205=)
c.3561A>G (p.Pro1187=)
c.2961A>G (p.Pro987=)
c.3909A>G (p.Pro1303=)
c.3906A>G (p.Pro1302=)
c.3825A>G (p.Pro1275=)
c.3756A>G (p.Pro1252=)
c.3624A>G (p.Pro1208=)
c.3492A>G (p.Pro1164=)
 gnomAD v4
20g.32436357A>TCA510467379ASXL1c.3645A>T (p.Pro1215=)
c.3462A>T (p.Pro1154=)
n.5998A>T
c.1869+1776A>T (n.1869+1776A>T)
c.3630A>T (p.Pro1210=)
c.3642A>T (p.Pro1214=)
c.3615A>T (p.Pro1205=)
c.3561A>T (p.Pro1187=)
c.2961A>T (p.Pro987=)
c.3909A>T (p.Pro1303=)
c.3906A>T (p.Pro1302=)
c.3825A>T (p.Pro1275=)
c.3756A>T (p.Pro1252=)
c.3624A>T (p.Pro1208=)
c.3492A>T (p.Pro1164=)
20g.32436358G>ACA408563499ASXL1c.3646G>A (p.Val1216Met)
c.3463G>A (p.Val1155Met)
n.5999G>A
c.1869+1777G>A (n.1869+1777G>A)
c.3631G>A (p.Val1211Met)
c.3643G>A (p.Val1215Met)
c.3616G>A (p.Val1206Met)
c.3562G>A (p.Val1188Met)
c.2962G>A (p.Val988Met)
c.3910G>A (p.Val1304Met)
c.3907G>A (p.Val1303Met)
c.3826G>A (p.Val1276Met)
c.3757G>A (p.Val1253Met)
c.3625G>A (p.Val1209Met)
c.3493G>A (p.Val1165Met)
 gnomAD v4
20g.32436358G>CCA9808868ASXL1c.3646G>C (p.Val1216Leu)
c.3463G>C (p.Val1155Leu)
n.5999G>C
c.1869+1777G>C (n.1869+1777G>C)
c.3631G>C (p.Val1211Leu)
c.3643G>C (p.Val1215Leu)
c.3616G>C (p.Val1206Leu)
c.3562G>C (p.Val1188Leu)
c.2962G>C (p.Val988Leu)
c.3910G>C (p.Val1304Leu)
c.3907G>C (p.Val1303Leu)
c.3826G>C (p.Val1276Leu)
c.3757G>C (p.Val1253Leu)
c.3625G>C (p.Val1209Leu)
c.3493G>C (p.Val1165Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436358G=CA2360293664ASXL1c.3646G= (p.Val1216=)
c.3463G= (p.Val1155=)
n.5999G=
c.1869+1777G= (n.1869+1777G=)
c.3631G= (p.Val1211=)
c.3643G= (p.Val1215=)
c.3616G= (p.Val1206=)
c.3562G= (p.Val1188=)
c.2962G= (p.Val988=)
c.3910G= (p.Val1304=)
c.3907G= (p.Val1303=)
c.3826G= (p.Val1276=)
c.3757G= (p.Val1253=)
c.3625G= (p.Val1209=)
c.3493G= (p.Val1165=)
20g.32436358G>TCA408563500ASXL1c.3646G>T (p.Val1216Leu)
c.3463G>T (p.Val1155Leu)
n.5999G>T
c.1869+1777G>T (n.1869+1777G>T)
c.3631G>T (p.Val1211Leu)
c.3643G>T (p.Val1215Leu)
c.3616G>T (p.Val1206Leu)
c.3562G>T (p.Val1188Leu)
c.2962G>T (p.Val988Leu)
c.3910G>T (p.Val1304Leu)
c.3907G>T (p.Val1303Leu)
c.3826G>T (p.Val1276Leu)
c.3757G>T (p.Val1253Leu)
c.3625G>T (p.Val1209Leu)
c.3493G>T (p.Val1165Leu)
20g.32436359T>ACA408563501ASXL1c.3647T>A (p.Val1216Glu)
c.3464T>A (p.Val1155Glu)
n.6000T>A
c.1869+1778T>A (n.1869+1778T>A)
c.3632T>A (p.Val1211Glu)
c.3644T>A (p.Val1215Glu)
c.3617T>A (p.Val1206Glu)
c.3563T>A (p.Val1188Glu)
c.2963T>A (p.Val988Glu)
c.3911T>A (p.Val1304Glu)
c.3908T>A (p.Val1303Glu)
c.3827T>A (p.Val1276Glu)
c.3758T>A (p.Val1253Glu)
c.3626T>A (p.Val1209Glu)
c.3494T>A (p.Val1165Glu)
20g.32436359T>CCA408563502ASXL1c.3647T>C (p.Val1216Ala)
c.3464T>C (p.Val1155Ala)
n.6000T>C
c.1869+1778T>C (n.1869+1778T>C)
c.3632T>C (p.Val1211Ala)
c.3644T>C (p.Val1215Ala)
c.3617T>C (p.Val1206Ala)
c.3563T>C (p.Val1188Ala)
c.2963T>C (p.Val988Ala)
c.3911T>C (p.Val1304Ala)
c.3908T>C (p.Val1303Ala)
c.3827T>C (p.Val1276Ala)
c.3758T>C (p.Val1253Ala)
c.3626T>C (p.Val1209Ala)
c.3494T>C (p.Val1165Ala)
20g.32436359T>GCA408563503ASXL1c.3647T>G (p.Val1216Gly)
c.3464T>G (p.Val1155Gly)
n.6000T>G
c.1869+1778T>G (n.1869+1778T>G)
c.3632T>G (p.Val1211Gly)
c.3644T>G (p.Val1215Gly)
c.3617T>G (p.Val1206Gly)
c.3563T>G (p.Val1188Gly)
c.2963T>G (p.Val988Gly)
c.3911T>G (p.Val1304Gly)
c.3908T>G (p.Val1303Gly)
c.3827T>G (p.Val1276Gly)
c.3758T>G (p.Val1253Gly)
c.3626T>G (p.Val1209Gly)
c.3494T>G (p.Val1165Gly)
20g.32436360G>ACA510467382ASXL1c.3648G>A (p.Val1216=)
c.3465G>A (p.Val1155=)
n.6001G>A
c.1869+1779G>A (n.1869+1779G>A)
c.3633G>A (p.Val1211=)
c.3645G>A (p.Val1215=)
c.3618G>A (p.Val1206=)
c.3564G>A (p.Val1188=)
c.2964G>A (p.Val988=)
c.3912G>A (p.Val1304=)
c.3909G>A (p.Val1303=)
c.3828G>A (p.Val1276=)
c.3759G>A (p.Val1253=)
c.3627G>A (p.Val1209=)
c.3495G>A (p.Val1165=)
20g.32436360G>CCA510467384ASXL1c.3648G>C (p.Val1216=)
c.3465G>C (p.Val1155=)
n.6001G>C
c.1869+1779G>C (n.1869+1779G>C)
c.3633G>C (p.Val1211=)
c.3645G>C (p.Val1215=)
c.3618G>C (p.Val1206=)
c.3564G>C (p.Val1188=)
c.2964G>C (p.Val988=)
c.3912G>C (p.Val1304=)
c.3909G>C (p.Val1303=)
c.3828G>C (p.Val1276=)
c.3759G>C (p.Val1253=)
c.3627G>C (p.Val1209=)
c.3495G>C (p.Val1165=)
 dbSNP
20g.32436360G>TCA510467385ASXL1c.3648G>T (p.Val1216=)
c.3465G>T (p.Val1155=)
n.6001G>T
c.1869+1779G>T (n.1869+1779G>T)
c.3633G>T (p.Val1211=)
c.3645G>T (p.Val1215=)
c.3618G>T (p.Val1206=)
c.3564G>T (p.Val1188=)
c.2964G>T (p.Val988=)
c.3912G>T (p.Val1304=)
c.3909G>T (p.Val1303=)
c.3828G>T (p.Val1276=)
c.3759G>T (p.Val1253=)
c.3627G>T (p.Val1209=)
c.3495G>T (p.Val1165=)
20g.32436361A>CCA408563504ASXL1c.3649A>C (p.Thr1217Pro)
c.3466A>C (p.Thr1156Pro)
n.6002A>C
c.1869+1780A>C (n.1869+1780A>C)
c.3634A>C (p.Thr1212Pro)
c.3646A>C (p.Thr1216Pro)
c.3619A>C (p.Thr1207Pro)
c.3565A>C (p.Thr1189Pro)
c.2965A>C (p.Thr989Pro)
c.3913A>C (p.Thr1305Pro)
c.3910A>C (p.Thr1304Pro)
c.3829A>C (p.Thr1277Pro)
c.3760A>C (p.Thr1254Pro)
c.3628A>C (p.Thr1210Pro)
c.3496A>C (p.Thr1166Pro)
20g.32436361A>GCA408563505ASXL1c.3649A>G (p.Thr1217Ala)
c.3466A>G (p.Thr1156Ala)
n.6002A>G
c.1869+1780A>G (n.1869+1780A>G)
c.3634A>G (p.Thr1212Ala)
c.3646A>G (p.Thr1216Ala)
c.3619A>G (p.Thr1207Ala)
c.3565A>G (p.Thr1189Ala)
c.2965A>G (p.Thr989Ala)
c.3913A>G (p.Thr1305Ala)
c.3910A>G (p.Thr1304Ala)
c.3829A>G (p.Thr1277Ala)
c.3760A>G (p.Thr1254Ala)
c.3628A>G (p.Thr1210Ala)
c.3496A>G (p.Thr1166Ala)
 gnomAD v4
20g.32436361A>TCA408563506ASXL1c.3649A>T (p.Thr1217Ser)
c.3466A>T (p.Thr1156Ser)
n.6002A>T
c.1869+1780A>T (n.1869+1780A>T)
c.3634A>T (p.Thr1212Ser)
c.3646A>T (p.Thr1216Ser)
c.3619A>T (p.Thr1207Ser)
c.3565A>T (p.Thr1189Ser)
c.2965A>T (p.Thr989Ser)
c.3913A>T (p.Thr1305Ser)
c.3910A>T (p.Thr1304Ser)
c.3829A>T (p.Thr1277Ser)
c.3760A>T (p.Thr1254Ser)
c.3628A>T (p.Thr1210Ser)
c.3496A>T (p.Thr1166Ser)
20g.32436362C>ACA408563507ASXL1c.3650C>A (p.Thr1217Lys)
c.3467C>A (p.Thr1156Lys)
n.6003C>A
c.1869+1781C>A (n.1869+1781C>A)
c.3635C>A (p.Thr1212Lys)
c.3647C>A (p.Thr1216Lys)
c.3620C>A (p.Thr1207Lys)
c.3566C>A (p.Thr1189Lys)
c.2966C>A (p.Thr989Lys)
c.3914C>A (p.Thr1305Lys)
c.3911C>A (p.Thr1304Lys)
c.3830C>A (p.Thr1277Lys)
c.3761C>A (p.Thr1254Lys)
c.3629C>A (p.Thr1210Lys)
c.3497C>A (p.Thr1166Lys)
20g.32436362C=CA2360293665ASXL1c.3650C= (p.Thr1217=)
c.3467C= (p.Thr1156=)
n.6003C=
c.1869+1781C= (n.1869+1781C=)
c.3635C= (p.Thr1212=)
c.3647C= (p.Thr1216=)
c.3620C= (p.Thr1207=)
c.3566C= (p.Thr1189=)
c.2966C= (p.Thr989=)
c.3914C= (p.Thr1305=)
c.3911C= (p.Thr1304=)
c.3830C= (p.Thr1277=)
c.3761C= (p.Thr1254=)
c.3629C= (p.Thr1210=)
c.3497C= (p.Thr1166=)
20g.32436362C>GCA408563508ASXL1c.3650C>G (p.Thr1217Arg)
c.3467C>G (p.Thr1156Arg)
n.6003C>G
c.1869+1781C>G (n.1869+1781C>G)
c.3635C>G (p.Thr1212Arg)
c.3647C>G (p.Thr1216Arg)
c.3620C>G (p.Thr1207Arg)
c.3566C>G (p.Thr1189Arg)
c.2966C>G (p.Thr989Arg)
c.3914C>G (p.Thr1305Arg)
c.3911C>G (p.Thr1304Arg)
c.3830C>G (p.Thr1277Arg)
c.3761C>G (p.Thr1254Arg)
c.3629C>G (p.Thr1210Arg)
c.3497C>G (p.Thr1166Arg)
20g.32436362C>TCA408563509ASXL1c.3650C>T (p.Thr1217Ile)
c.3467C>T (p.Thr1156Ile)
n.6003C>T
c.1869+1781C>T (n.1869+1781C>T)
c.3635C>T (p.Thr1212Ile)
c.3647C>T (p.Thr1216Ile)
c.3620C>T (p.Thr1207Ile)
c.3566C>T (p.Thr1189Ile)
c.2966C>T (p.Thr989Ile)
c.3914C>T (p.Thr1305Ile)
c.3911C>T (p.Thr1304Ile)
c.3830C>T (p.Thr1277Ile)
c.3761C>T (p.Thr1254Ile)
c.3629C>T (p.Thr1210Ile)
c.3497C>T (p.Thr1166Ile)
20g.32436363A>CCA510467391ASXL1c.3651A>C (p.Thr1217=)
c.3468A>C (p.Thr1156=)
n.6004A>C
c.1869+1782A>C (n.1869+1782A>C)
c.3636A>C (p.Thr1212=)
c.3648A>C (p.Thr1216=)
c.3621A>C (p.Thr1207=)
c.3567A>C (p.Thr1189=)
c.2967A>C (p.Thr989=)
c.3915A>C (p.Thr1305=)
c.3912A>C (p.Thr1304=)
c.3831A>C (p.Thr1277=)
c.3762A>C (p.Thr1254=)
c.3630A>C (p.Thr1210=)
c.3498A>C (p.Thr1166=)
20g.32436363A>GCA510467389ASXL1c.3651A>G (p.Thr1217=)
c.3468A>G (p.Thr1156=)
n.6004A>G
c.1869+1782A>G (n.1869+1782A>G)
c.3636A>G (p.Thr1212=)
c.3648A>G (p.Thr1216=)
c.3621A>G (p.Thr1207=)
c.3567A>G (p.Thr1189=)
c.2967A>G (p.Thr989=)
c.3915A>G (p.Thr1305=)
c.3912A>G (p.Thr1304=)
c.3831A>G (p.Thr1277=)
c.3762A>G (p.Thr1254=)
c.3630A>G (p.Thr1210=)
c.3498A>G (p.Thr1166=)
20g.32436363A>TCA510467387ASXL1c.3651A>T (p.Thr1217=)
c.3468A>T (p.Thr1156=)
n.6004A>T
c.1869+1782A>T (n.1869+1782A>T)
c.3636A>T (p.Thr1212=)
c.3648A>T (p.Thr1216=)
c.3621A>T (p.Thr1207=)
c.3567A>T (p.Thr1189=)
c.2967A>T (p.Thr989=)
c.3915A>T (p.Thr1305=)
c.3912A>T (p.Thr1304=)
c.3831A>T (p.Thr1277=)
c.3762A>T (p.Thr1254=)
c.3630A>T (p.Thr1210=)
c.3498A>T (p.Thr1166=)
20g.32436364_32436365dupCA9808869ASXL1c.3652_3653dup (p.Asn1218LysfsTer?)
c.3469_3470dup (p.Asn1157LysfsTer?)
n.6005_6006dup
c.1869+1783_1869+1784dup (n.1869+1783_1869+1784dup)
c.3637_3638dup (p.Asn1213LysfsTer?)
c.3649_3650dup (p.Asn1217LysfsTer?)
c.3622_3623dup (p.Asn1208LysfsTer?)
c.3568_3569dup (p.Asn1190LysfsTer?)
c.2968_2969dup (p.Asn990LysfsTer?)
c.3916_3917dup (p.Asn1306LysfsTer?)
c.3913_3914dup (p.Asn1305LysfsTer?)
c.3832_3833dup (p.Asn1278LysfsTer?)
c.3763_3764dup (p.Asn1255LysfsTer?)
c.3631_3632dup (p.Asn1211LysfsTer?)
c.3499_3500dup (p.Asn1167LysfsTer?)
 dbSNP ExAC gnomAD v2
20g.32436364_32436365delCA2695229724ASXL1c.3652_3653del (p.Asn1218SerfsTer6)
c.3469_3470del (p.Asn1157SerfsTer6)
n.6005_6006del
c.1869+1783_1869+1784del (n.1869+1783_1869+1784del)
c.3637_3638del (p.Asn1213SerfsTer6)
c.3649_3650del (p.Asn1217SerfsTer6)
c.3622_3623del (p.Asn1208SerfsTer6)
c.3568_3569del (p.Asn1190SerfsTer6)
c.2968_2969del (p.Asn990SerfsTer6)
c.3916_3917del (p.Asn1306SerfsTer6)
c.3913_3914del (p.Asn1305SerfsTer6)
c.3832_3833del (p.Asn1278SerfsTer6)
c.3763_3764del (p.Asn1255SerfsTer6)
c.3631_3632del (p.Asn1211SerfsTer6)
c.3499_3500del (p.Asn1167SerfsTer6)
20g.32436364A>CCA408563512ASXL1c.3652A>C (p.Asn1218His)
c.3469A>C (p.Asn1157His)
n.6005A>C
c.1869+1783A>C (n.1869+1783A>C)
c.3637A>C (p.Asn1213His)
c.3649A>C (p.Asn1217His)
c.3622A>C (p.Asn1208His)
c.3568A>C (p.Asn1190His)
c.2968A>C (p.Asn990His)
c.3916A>C (p.Asn1306His)
c.3913A>C (p.Asn1305His)
c.3832A>C (p.Asn1278His)
c.3763A>C (p.Asn1255His)
c.3631A>C (p.Asn1211His)
c.3499A>C (p.Asn1167His)
20g.32436364A>GCA408563511ASXL1c.3652A>G (p.Asn1218Asp)
c.3469A>G (p.Asn1157Asp)
n.6005A>G
c.1869+1783A>G (n.1869+1783A>G)
c.3637A>G (p.Asn1213Asp)
c.3649A>G (p.Asn1217Asp)
c.3622A>G (p.Asn1208Asp)
c.3568A>G (p.Asn1190Asp)
c.2968A>G (p.Asn990Asp)
c.3916A>G (p.Asn1306Asp)
c.3913A>G (p.Asn1305Asp)
c.3832A>G (p.Asn1278Asp)
c.3763A>G (p.Asn1255Asp)
c.3631A>G (p.Asn1211Asp)
c.3499A>G (p.Asn1167Asp)
20g.32436364A>TCA408563510ASXL1c.3652A>T (p.Asn1218Tyr)
c.3469A>T (p.Asn1157Tyr)
n.6005A>T
c.1869+1783A>T (n.1869+1783A>T)
c.3637A>T (p.Asn1213Tyr)
c.3649A>T (p.Asn1217Tyr)
c.3622A>T (p.Asn1208Tyr)
c.3568A>T (p.Asn1190Tyr)
c.2968A>T (p.Asn990Tyr)
c.3916A>T (p.Asn1306Tyr)
c.3913A>T (p.Asn1305Tyr)
c.3832A>T (p.Asn1278Tyr)
c.3763A>T (p.Asn1255Tyr)
c.3631A>T (p.Asn1211Tyr)
c.3499A>T (p.Asn1167Tyr)
20g.32436365A>CCA408563513ASXL1c.3653A>C (p.Asn1218Thr)
c.3470A>C (p.Asn1157Thr)
n.6006A>C
c.1869+1784A>C (n.1869+1784A>C)
c.3638A>C (p.Asn1213Thr)
c.3650A>C (p.Asn1217Thr)
c.3623A>C (p.Asn1208Thr)
c.3569A>C (p.Asn1190Thr)
c.2969A>C (p.Asn990Thr)
c.3917A>C (p.Asn1306Thr)
c.3914A>C (p.Asn1305Thr)
c.3833A>C (p.Asn1278Thr)
c.3764A>C (p.Asn1255Thr)
c.3632A>C (p.Asn1211Thr)
c.3500A>C (p.Asn1167Thr)
20g.32436365A>GCA408563515ASXL1c.3653A>G (p.Asn1218Ser)
c.3470A>G (p.Asn1157Ser)
n.6006A>G
c.1869+1784A>G (n.1869+1784A>G)
c.3638A>G (p.Asn1213Ser)
c.3650A>G (p.Asn1217Ser)
c.3623A>G (p.Asn1208Ser)
c.3569A>G (p.Asn1190Ser)
c.2969A>G (p.Asn990Ser)
c.3917A>G (p.Asn1306Ser)
c.3914A>G (p.Asn1305Ser)
c.3833A>G (p.Asn1278Ser)
c.3764A>G (p.Asn1255Ser)
c.3632A>G (p.Asn1211Ser)
c.3500A>G (p.Asn1167Ser)
20g.32436365A>TCA408563514ASXL1c.3653A>T (p.Asn1218Ile)
c.3470A>T (p.Asn1157Ile)
n.6006A>T
c.1869+1784A>T (n.1869+1784A>T)
c.3638A>T (p.Asn1213Ile)
c.3650A>T (p.Asn1217Ile)
c.3623A>T (p.Asn1208Ile)
c.3569A>T (p.Asn1190Ile)
c.2969A>T (p.Asn990Ile)
c.3917A>T (p.Asn1306Ile)
c.3914A>T (p.Asn1305Ile)
c.3833A>T (p.Asn1278Ile)
c.3764A>T (p.Asn1255Ile)
c.3632A>T (p.Asn1211Ile)
c.3500A>T (p.Asn1167Ile)
20g.32436366T>ACA408563516ASXL1c.3654T>A (p.Asn1218Lys)
c.3471T>A (p.Asn1157Lys)
n.6007T>A
c.1869+1785T>A (n.1869+1785T>A)
c.3639T>A (p.Asn1213Lys)
c.3651T>A (p.Asn1217Lys)
c.3624T>A (p.Asn1208Lys)
c.3570T>A (p.Asn1190Lys)
c.2970T>A (p.Asn990Lys)
c.3918T>A (p.Asn1306Lys)
c.3915T>A (p.Asn1305Lys)
c.3834T>A (p.Asn1278Lys)
c.3765T>A (p.Asn1255Lys)
c.3633T>A (p.Asn1211Lys)
c.3501T>A (p.Asn1167Lys)
20g.32436366T>CCA510467393ASXL1c.3654T>C (p.Asn1218=)
c.3471T>C (p.Asn1157=)
n.6007T>C
c.1869+1785T>C (n.1869+1785T>C)
c.3639T>C (p.Asn1213=)
c.3651T>C (p.Asn1217=)
c.3624T>C (p.Asn1208=)
c.3570T>C (p.Asn1190=)
c.2970T>C (p.Asn990=)
c.3918T>C (p.Asn1306=)
c.3915T>C (p.Asn1305=)
c.3834T>C (p.Asn1278=)
c.3765T>C (p.Asn1255=)
c.3633T>C (p.Asn1211=)
c.3501T>C (p.Asn1167=)
20g.32436366T>GCA408563517ASXL1c.3654T>G (p.Asn1218Lys)
c.3471T>G (p.Asn1157Lys)
n.6007T>G
c.1869+1785T>G (n.1869+1785T>G)
c.3639T>G (p.Asn1213Lys)
c.3651T>G (p.Asn1217Lys)
c.3624T>G (p.Asn1208Lys)
c.3570T>G (p.Asn1190Lys)
c.2970T>G (p.Asn990Lys)
c.3918T>G (p.Asn1306Lys)
c.3915T>G (p.Asn1305Lys)
c.3834T>G (p.Asn1278Lys)
c.3765T>G (p.Asn1255Lys)
c.3633T>G (p.Asn1211Lys)
c.3501T>G (p.Asn1167Lys)
20g.32436367C>ACA408563518ASXL1c.3655C>A (p.Pro1219Thr)
c.3472C>A (p.Pro1158Thr)
n.6008C>A
c.1869+1786C>A (n.1869+1786C>A)
c.3640C>A (p.Pro1214Thr)
c.3652C>A (p.Pro1218Thr)
c.3625C>A (p.Pro1209Thr)
c.3571C>A (p.Pro1191Thr)
c.2971C>A (p.Pro991Thr)
c.3919C>A (p.Pro1307Thr)
c.3916C>A (p.Pro1306Thr)
c.3835C>A (p.Pro1279Thr)
c.3766C>A (p.Pro1256Thr)
c.3634C>A (p.Pro1212Thr)
c.3502C>A (p.Pro1168Thr)
20g.32436367C=CA2360293666ASXL1c.3655C= (p.Pro1219=)
c.3472C= (p.Pro1158=)
n.6008C=
c.1869+1786C= (n.1869+1786C=)
c.3640C= (p.Pro1214=)
c.3652C= (p.Pro1218=)
c.3625C= (p.Pro1209=)
c.3571C= (p.Pro1191=)
c.2971C= (p.Pro991=)
c.3919C= (p.Pro1307=)
c.3916C= (p.Pro1306=)
c.3835C= (p.Pro1279=)
c.3766C= (p.Pro1256=)
c.3634C= (p.Pro1212=)
c.3502C= (p.Pro1168=)
20g.32436367C>GCA408563519ASXL1c.3655C>G (p.Pro1219Ala)
c.3472C>G (p.Pro1158Ala)
n.6008C>G
c.1869+1786C>G (n.1869+1786C>G)
c.3640C>G (p.Pro1214Ala)
c.3652C>G (p.Pro1218Ala)
c.3625C>G (p.Pro1209Ala)
c.3571C>G (p.Pro1191Ala)
c.2971C>G (p.Pro991Ala)
c.3919C>G (p.Pro1307Ala)
c.3916C>G (p.Pro1306Ala)
c.3835C>G (p.Pro1279Ala)
c.3766C>G (p.Pro1256Ala)
c.3634C>G (p.Pro1212Ala)
c.3502C>G (p.Pro1168Ala)
20g.32436367C>TCA9808870ASXL1c.3655C>T (p.Pro1219Ser)
c.3472C>T (p.Pro1158Ser)
n.6008C>T
c.1869+1786C>T (n.1869+1786C>T)
c.3640C>T (p.Pro1214Ser)
c.3652C>T (p.Pro1218Ser)
c.3625C>T (p.Pro1209Ser)
c.3571C>T (p.Pro1191Ser)
c.2971C>T (p.Pro991Ser)
c.3919C>T (p.Pro1307Ser)
c.3916C>T (p.Pro1306Ser)
c.3835C>T (p.Pro1279Ser)
c.3766C>T (p.Pro1256Ser)
c.3634C>T (p.Pro1212Ser)
c.3502C>T (p.Pro1168Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436368C>ACA408563520ASXL1c.3656C>A (p.Pro1219His)
c.3473C>A (p.Pro1158His)
n.6009C>A
c.1869+1787C>A (n.1869+1787C>A)
c.3641C>A (p.Pro1214His)
c.3653C>A (p.Pro1218His)
c.3626C>A (p.Pro1209His)
c.3572C>A (p.Pro1191His)
c.2972C>A (p.Pro991His)
c.3920C>A (p.Pro1307His)
c.3917C>A (p.Pro1306His)
c.3836C>A (p.Pro1279His)
c.3767C>A (p.Pro1256His)
c.3635C>A (p.Pro1212His)
c.3503C>A (p.Pro1168His)
20g.32436368C>GCA408563521ASXL1c.3656C>G (p.Pro1219Arg)
c.3473C>G (p.Pro1158Arg)
n.6009C>G
c.1869+1787C>G (n.1869+1787C>G)
c.3641C>G (p.Pro1214Arg)
c.3653C>G (p.Pro1218Arg)
c.3626C>G (p.Pro1209Arg)
c.3572C>G (p.Pro1191Arg)
c.2972C>G (p.Pro991Arg)
c.3920C>G (p.Pro1307Arg)
c.3917C>G (p.Pro1306Arg)
c.3836C>G (p.Pro1279Arg)
c.3767C>G (p.Pro1256Arg)
c.3635C>G (p.Pro1212Arg)
c.3503C>G (p.Pro1168Arg)
20g.32436368C>TCA408563522ASXL1c.3656C>T (p.Pro1219Leu)
c.3473C>T (p.Pro1158Leu)
n.6009C>T
c.1869+1787C>T (n.1869+1787C>T)
c.3641C>T (p.Pro1214Leu)
c.3653C>T (p.Pro1218Leu)
c.3626C>T (p.Pro1209Leu)
c.3572C>T (p.Pro1191Leu)
c.2972C>T (p.Pro991Leu)
c.3920C>T (p.Pro1307Leu)
c.3917C>T (p.Pro1306Leu)
c.3836C>T (p.Pro1279Leu)
c.3767C>T (p.Pro1256Leu)
c.3635C>T (p.Pro1212Leu)
c.3503C>T (p.Pro1168Leu)
 gnomAD v4
20g.32436369C>ACA510467396ASXL1c.3657C>A (p.Pro1219=)
c.3474C>A (p.Pro1158=)
n.6010C>A
c.1869+1788C>A (n.1869+1788C>A)
c.3642C>A (p.Pro1214=)
c.3654C>A (p.Pro1218=)
c.3627C>A (p.Pro1209=)
c.3573C>A (p.Pro1191=)
c.2973C>A (p.Pro991=)
c.3921C>A (p.Pro1307=)
c.3918C>A (p.Pro1306=)
c.3837C>A (p.Pro1279=)
c.3768C>A (p.Pro1256=)
c.3636C>A (p.Pro1212=)
c.3504C>A (p.Pro1168=)
20g.32436369C=CA2360293667ASXL1c.3657C= (p.Pro1219=)
c.3474C= (p.Pro1158=)
n.6010C=
c.1869+1788C= (n.1869+1788C=)
c.3642C= (p.Pro1214=)
c.3654C= (p.Pro1218=)
c.3627C= (p.Pro1209=)
c.3573C= (p.Pro1191=)
c.2973C= (p.Pro991=)
c.3921C= (p.Pro1307=)
c.3918C= (p.Pro1306=)
c.3837C= (p.Pro1279=)
c.3768C= (p.Pro1256=)
c.3636C= (p.Pro1212=)
c.3504C= (p.Pro1168=)
20g.32436369C>GCA510467397ASXL1c.3657C>G (p.Pro1219=)
c.3474C>G (p.Pro1158=)
n.6010C>G
c.1869+1788C>G (n.1869+1788C>G)
c.3642C>G (p.Pro1214=)
c.3654C>G (p.Pro1218=)
c.3627C>G (p.Pro1209=)
c.3573C>G (p.Pro1191=)
c.2973C>G (p.Pro991=)
c.3921C>G (p.Pro1307=)
c.3918C>G (p.Pro1306=)
c.3837C>G (p.Pro1279=)
c.3768C>G (p.Pro1256=)
c.3636C>G (p.Pro1212=)
c.3504C>G (p.Pro1168=)
20g.32436369C>TCA510467399ASXL1c.3657C>T (p.Pro1219=)
c.3474C>T (p.Pro1158=)
n.6010C>T
c.1869+1788C>T (n.1869+1788C>T)
c.3642C>T (p.Pro1214=)
c.3654C>T (p.Pro1218=)
c.3627C>T (p.Pro1209=)
c.3573C>T (p.Pro1191=)
c.2973C>T (p.Pro991=)
c.3921C>T (p.Pro1307=)
c.3918C>T (p.Pro1306=)
c.3837C>T (p.Pro1279=)
c.3768C>T (p.Pro1256=)
c.3636C>T (p.Pro1212=)
c.3504C>T (p.Pro1168=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436370A=CA2360293668ASXL1c.3658A= (p.Ile1220=)
c.3475A= (p.Ile1159=)
n.6011A=
c.1869+1789A= (n.1869+1789A=)
c.3643A= (p.Ile1215=)
c.3655A= (p.Ile1219=)
c.3628A= (p.Ile1210=)
c.3574A= (p.Ile1192=)
c.2974A= (p.Ile992=)
c.3922A= (p.Ile1308=)
c.3919A= (p.Ile1307=)
c.3838A= (p.Ile1280=)
c.3769A= (p.Ile1257=)
c.3637A= (p.Ile1213=)
c.3505A= (p.Ile1169=)
20g.32436370A>CCA408563523ASXL1c.3658A>C (p.Ile1220Leu)
c.3475A>C (p.Ile1159Leu)
n.6011A>C
c.1869+1789A>C (n.1869+1789A>C)
c.3643A>C (p.Ile1215Leu)
c.3655A>C (p.Ile1219Leu)
c.3628A>C (p.Ile1210Leu)
c.3574A>C (p.Ile1192Leu)
c.2974A>C (p.Ile992Leu)
c.3922A>C (p.Ile1308Leu)
c.3919A>C (p.Ile1307Leu)
c.3838A>C (p.Ile1280Leu)
c.3769A>C (p.Ile1257Leu)
c.3637A>C (p.Ile1213Leu)
c.3505A>C (p.Ile1169Leu)
20g.32436370A>GCA408563524ASXL1c.3658A>G (p.Ile1220Val)
c.3475A>G (p.Ile1159Val)
n.6011A>G
c.1869+1789A>G (n.1869+1789A>G)
c.3643A>G (p.Ile1215Val)
c.3655A>G (p.Ile1219Val)
c.3628A>G (p.Ile1210Val)
c.3574A>G (p.Ile1192Val)
c.2974A>G (p.Ile992Val)
c.3922A>G (p.Ile1308Val)
c.3919A>G (p.Ile1307Val)
c.3838A>G (p.Ile1280Val)
c.3769A>G (p.Ile1257Val)
c.3637A>G (p.Ile1213Val)
c.3505A>G (p.Ile1169Val)
20g.32436370A>TCA9808871ASXL1c.3658A>T (p.Ile1220Phe)
c.3475A>T (p.Ile1159Phe)
n.6011A>T
c.1869+1789A>T (n.1869+1789A>T)
c.3643A>T (p.Ile1215Phe)
c.3655A>T (p.Ile1219Phe)
c.3628A>T (p.Ile1210Phe)
c.3574A>T (p.Ile1192Phe)
c.2974A>T (p.Ile992Phe)
c.3922A>T (p.Ile1308Phe)
c.3919A>T (p.Ile1307Phe)
c.3838A>T (p.Ile1280Phe)
c.3769A>T (p.Ile1257Phe)
c.3637A>T (p.Ile1213Phe)
c.3505A>T (p.Ile1169Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32436371T>ACA408563525ASXL1c.3659T>A (p.Ile1220Asn)
c.3476T>A (p.Ile1159Asn)
n.6012T>A
c.1869+1790T>A (n.1869+1790T>A)
c.3644T>A (p.Ile1215Asn)
c.3656T>A (p.Ile1219Asn)
c.3629T>A (p.Ile1210Asn)
c.3575T>A (p.Ile1192Asn)
c.2975T>A (p.Ile992Asn)
c.3923T>A (p.Ile1308Asn)
c.3920T>A (p.Ile1307Asn)
c.3839T>A (p.Ile1280Asn)
c.3770T>A (p.Ile1257Asn)
c.3638T>A (p.Ile1213Asn)
c.3506T>A (p.Ile1169Asn)
20g.32436371T>CCA408563526ASXL1c.3659T>C (p.Ile1220Thr)
c.3476T>C (p.Ile1159Thr)
n.6012T>C
c.1869+1790T>C (n.1869+1790T>C)
c.3644T>C (p.Ile1215Thr)
c.3656T>C (p.Ile1219Thr)
c.3629T>C (p.Ile1210Thr)
c.3575T>C (p.Ile1192Thr)
c.2975T>C (p.Ile992Thr)
c.3923T>C (p.Ile1308Thr)
c.3920T>C (p.Ile1307Thr)
c.3839T>C (p.Ile1280Thr)
c.3770T>C (p.Ile1257Thr)
c.3638T>C (p.Ile1213Thr)
c.3506T>C (p.Ile1169Thr)
20g.32436371T>GCA408563527ASXL1c.3659T>G (p.Ile1220Ser)
c.3476T>G (p.Ile1159Ser)
n.6012T>G
c.1869+1790T>G (n.1869+1790T>G)
c.3644T>G (p.Ile1215Ser)
c.3656T>G (p.Ile1219Ser)
c.3629T>G (p.Ile1210Ser)
c.3575T>G (p.Ile1192Ser)
c.2975T>G (p.Ile992Ser)
c.3923T>G (p.Ile1308Ser)
c.3920T>G (p.Ile1307Ser)
c.3839T>G (p.Ile1280Ser)
c.3770T>G (p.Ile1257Ser)
c.3638T>G (p.Ile1213Ser)
c.3506T>G (p.Ile1169Ser)
20g.32436372T>ACA510467400ASXL1c.3660T>A (p.Ile1220=)
c.3477T>A (p.Ile1159=)
n.6013T>A
c.1869+1791T>A (n.1869+1791T>A)
c.3645T>A (p.Ile1215=)
c.3657T>A (p.Ile1219=)
c.3630T>A (p.Ile1210=)
c.3576T>A (p.Ile1192=)
c.2976T>A (p.Ile992=)
c.3924T>A (p.Ile1308=)
c.3921T>A (p.Ile1307=)
c.3840T>A (p.Ile1280=)
c.3771T>A (p.Ile1257=)
c.3639T>A (p.Ile1213=)
c.3507T>A (p.Ile1169=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436372T>CCA510467402ASXL1c.3660T>C (p.Ile1220=)
c.3477T>C (p.Ile1159=)
n.6013T>C
c.1869+1791T>C (n.1869+1791T>C)
c.3645T>C (p.Ile1215=)
c.3657T>C (p.Ile1219=)
c.3630T>C (p.Ile1210=)
c.3576T>C (p.Ile1192=)
c.2976T>C (p.Ile992=)
c.3924T>C (p.Ile1308=)
c.3921T>C (p.Ile1307=)
c.3840T>C (p.Ile1280=)
c.3771T>C (p.Ile1257=)
c.3639T>C (p.Ile1213=)
c.3507T>C (p.Ile1169=)
20g.32436372T>GCA408563528ASXL1c.3660T>G (p.Ile1220Met)
c.3477T>G (p.Ile1159Met)
n.6013T>G
c.1869+1791T>G (n.1869+1791T>G)
c.3645T>G (p.Ile1215Met)
c.3657T>G (p.Ile1219Met)
c.3630T>G (p.Ile1210Met)
c.3576T>G (p.Ile1192Met)
c.2976T>G (p.Ile992Met)
c.3924T>G (p.Ile1308Met)
c.3921T>G (p.Ile1307Met)
c.3840T>G (p.Ile1280Met)
c.3771T>G (p.Ile1257Met)
c.3639T>G (p.Ile1213Met)
c.3507T>G (p.Ile1169Met)
20g.32436372T=CA2360293669ASXL1c.3660T= (p.Ile1220=)
c.3477T= (p.Ile1159=)
n.6013T=
c.1869+1791T= (n.1869+1791T=)
c.3645T= (p.Ile1215=)
c.3657T= (p.Ile1219=)
c.3630T= (p.Ile1210=)
c.3576T= (p.Ile1192=)
c.2976T= (p.Ile992=)
c.3924T= (p.Ile1308=)
c.3921T= (p.Ile1307=)
c.3840T= (p.Ile1280=)
c.3771T= (p.Ile1257=)
c.3639T= (p.Ile1213=)
c.3507T= (p.Ile1169=)
20g.32436373A>CCA408563531ASXL1c.3661A>C (p.Thr1221Pro)
c.3478A>C (p.Thr1160Pro)
n.6014A>C
c.1869+1792A>C (n.1869+1792A>C)
c.3646A>C (p.Thr1216Pro)
c.3658A>C (p.Thr1220Pro)
c.3631A>C (p.Thr1211Pro)
c.3577A>C (p.Thr1193Pro)
c.2977A>C (p.Thr993Pro)
c.3925A>C (p.Thr1309Pro)
c.3922A>C (p.Thr1308Pro)
c.3841A>C (p.Thr1281Pro)
c.3772A>C (p.Thr1258Pro)
c.3640A>C (p.Thr1214Pro)
c.3508A>C (p.Thr1170Pro)
20g.32436373A>GCA408563530ASXL1c.3661A>G (p.Thr1221Ala)
c.3478A>G (p.Thr1160Ala)
n.6014A>G
c.1869+1792A>G (n.1869+1792A>G)
c.3646A>G (p.Thr1216Ala)
c.3658A>G (p.Thr1220Ala)
c.3631A>G (p.Thr1211Ala)
c.3577A>G (p.Thr1193Ala)
c.2977A>G (p.Thr993Ala)
c.3925A>G (p.Thr1309Ala)
c.3922A>G (p.Thr1308Ala)
c.3841A>G (p.Thr1281Ala)
c.3772A>G (p.Thr1258Ala)
c.3640A>G (p.Thr1214Ala)
c.3508A>G (p.Thr1170Ala)
 gnomAD v4
20g.32436373A>TCA408563529ASXL1c.3661A>T (p.Thr1221Ser)
c.3478A>T (p.Thr1160Ser)
n.6014A>T
c.1869+1792A>T (n.1869+1792A>T)
c.3646A>T (p.Thr1216Ser)
c.3658A>T (p.Thr1220Ser)
c.3631A>T (p.Thr1211Ser)
c.3577A>T (p.Thr1193Ser)
c.2977A>T (p.Thr993Ser)
c.3925A>T (p.Thr1309Ser)
c.3922A>T (p.Thr1308Ser)
c.3841A>T (p.Thr1281Ser)
c.3772A>T (p.Thr1258Ser)
c.3640A>T (p.Thr1214Ser)
c.3508A>T (p.Thr1170Ser)
20g.32436374C>ACA157008ASXL1c.3662C>A (p.Thr1221Lys)
c.3479C>A (p.Thr1160Lys)
n.6015C>A
c.1869+1793C>A (n.1869+1793C>A)
c.3647C>A (p.Thr1216Lys)
c.3659C>A (p.Thr1220Lys)
c.3632C>A (p.Thr1211Lys)
c.3578C>A (p.Thr1193Lys)
c.2978C>A (p.Thr993Lys)
c.3926C>A (p.Thr1309Lys)
c.3923C>A (p.Thr1308Lys)
c.3842C>A (p.Thr1281Lys)
c.3773C>A (p.Thr1258Lys)
c.3641C>A (p.Thr1214Lys)
c.3509C>A (p.Thr1170Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436374C=CA2360293670ASXL1c.3662C= (p.Thr1221=)
c.3479C= (p.Thr1160=)
n.6015C=
c.1869+1793C= (n.1869+1793C=)
c.3647C= (p.Thr1216=)
c.3659C= (p.Thr1220=)
c.3632C= (p.Thr1211=)
c.3578C= (p.Thr1193=)
c.2978C= (p.Thr993=)
c.3926C= (p.Thr1309=)
c.3923C= (p.Thr1308=)
c.3842C= (p.Thr1281=)
c.3773C= (p.Thr1258=)
c.3641C= (p.Thr1214=)
c.3509C= (p.Thr1170=)
20g.32436374C>GCA408563532ASXL1c.3662C>G (p.Thr1221Arg)
c.3479C>G (p.Thr1160Arg)
n.6015C>G
c.1869+1793C>G (n.1869+1793C>G)
c.3647C>G (p.Thr1216Arg)
c.3659C>G (p.Thr1220Arg)
c.3632C>G (p.Thr1211Arg)
c.3578C>G (p.Thr1193Arg)
c.2978C>G (p.Thr993Arg)
c.3926C>G (p.Thr1309Arg)
c.3923C>G (p.Thr1308Arg)
c.3842C>G (p.Thr1281Arg)
c.3773C>G (p.Thr1258Arg)
c.3641C>G (p.Thr1214Arg)
c.3509C>G (p.Thr1170Arg)
20g.32436374C>TCA408563533ASXL1c.3662C>T (p.Thr1221Ile)
c.3479C>T (p.Thr1160Ile)
n.6015C>T
c.1869+1793C>T (n.1869+1793C>T)
c.3647C>T (p.Thr1216Ile)
c.3659C>T (p.Thr1220Ile)
c.3632C>T (p.Thr1211Ile)
c.3578C>T (p.Thr1193Ile)
c.2978C>T (p.Thr993Ile)
c.3926C>T (p.Thr1309Ile)
c.3923C>T (p.Thr1308Ile)
c.3842C>T (p.Thr1281Ile)
c.3773C>T (p.Thr1258Ile)
c.3641C>T (p.Thr1214Ile)
c.3509C>T (p.Thr1170Ile)
 dbSNP gnomAD v4
20g.32436375A=CA2360293671ASXL1c.3663A= (p.Thr1221=)
c.3480A= (p.Thr1160=)
n.6016A=
c.1869+1794A= (n.1869+1794A=)
c.3648A= (p.Thr1216=)
c.3660A= (p.Thr1220=)
c.3633A= (p.Thr1211=)
c.3579A= (p.Thr1193=)
c.2979A= (p.Thr993=)
c.3927A= (p.Thr1309=)
c.3924A= (p.Thr1308=)
c.3843A= (p.Thr1281=)
c.3774A= (p.Thr1258=)
c.3642A= (p.Thr1214=)
c.3510A= (p.Thr1170=)
20g.32436375A>CCA9808872ASXL1c.3663A>C (p.Thr1221=)
c.3480A>C (p.Thr1160=)
n.6016A>C
c.1869+1794A>C (n.1869+1794A>C)
c.3648A>C (p.Thr1216=)
c.3660A>C (p.Thr1220=)
c.3633A>C (p.Thr1211=)
c.3579A>C (p.Thr1193=)
c.2979A>C (p.Thr993=)
c.3927A>C (p.Thr1309=)
c.3924A>C (p.Thr1308=)
c.3843A>C (p.Thr1281=)
c.3774A>C (p.Thr1258=)
c.3642A>C (p.Thr1214=)
c.3510A>C (p.Thr1170=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436375A>GCA510467405ASXL1c.3663A>G (p.Thr1221=)
c.3480A>G (p.Thr1160=)
n.6016A>G
c.1869+1794A>G (n.1869+1794A>G)
c.3648A>G (p.Thr1216=)
c.3660A>G (p.Thr1220=)
c.3633A>G (p.Thr1211=)
c.3579A>G (p.Thr1193=)
c.2979A>G (p.Thr993=)
c.3927A>G (p.Thr1309=)
c.3924A>G (p.Thr1308=)
c.3843A>G (p.Thr1281=)
c.3774A>G (p.Thr1258=)
c.3642A>G (p.Thr1214=)
c.3510A>G (p.Thr1170=)
 ClinVar gnomAD v4
20g.32436375A>TCA510467407ASXL1c.3663A>T (p.Thr1221=)
c.3480A>T (p.Thr1160=)
n.6016A>T
c.1869+1794A>T (n.1869+1794A>T)
c.3648A>T (p.Thr1216=)
c.3660A>T (p.Thr1220=)
c.3633A>T (p.Thr1211=)
c.3579A>T (p.Thr1193=)
c.2979A>T (p.Thr993=)
c.3927A>T (p.Thr1309=)
c.3924A>T (p.Thr1308=)
c.3843A>T (p.Thr1281=)
c.3774A>T (p.Thr1258=)
c.3642A>T (p.Thr1214=)
c.3510A>T (p.Thr1170=)
20g.32436376delCA2816151306ASXL1c.3664del (p.Ser1222ProfsTer?)
c.3481del (p.Ser1161ProfsTer?)
n.6017del
c.1869+1795del (n.1869+1795del)
c.3649del (p.Ser1217ProfsTer?)
c.3661del (p.Ser1221ProfsTer?)
c.3634del (p.Ser1212ProfsTer?)
c.3580del (p.Ser1194ProfsTer?)
c.2980del (p.Ser994ProfsTer?)
c.3928del (p.Ser1310ProfsTer?)
c.3925del (p.Ser1309ProfsTer?)
c.3844del (p.Ser1282ProfsTer?)
c.3775del (p.Ser1259ProfsTer?)
c.3643del (p.Ser1215ProfsTer?)
c.3511del (p.Ser1171ProfsTer?)
20g.32436376T>ACA408563534ASXL1c.3664T>A (p.Ser1222Thr)
c.3481T>A (p.Ser1161Thr)
n.6017T>A
c.1869+1795T>A (n.1869+1795T>A)
c.3649T>A (p.Ser1217Thr)
c.3661T>A (p.Ser1221Thr)
c.3634T>A (p.Ser1212Thr)
c.3580T>A (p.Ser1194Thr)
c.2980T>A (p.Ser994Thr)
c.3928T>A (p.Ser1310Thr)
c.3925T>A (p.Ser1309Thr)
c.3844T>A (p.Ser1282Thr)
c.3775T>A (p.Ser1259Thr)
c.3643T>A (p.Ser1215Thr)
c.3511T>A (p.Ser1171Thr)
20g.32436376T>CCA408563535ASXL1c.3664T>C (p.Ser1222Pro)
c.3481T>C (p.Ser1161Pro)
n.6017T>C
c.1869+1795T>C (n.1869+1795T>C)
c.3649T>C (p.Ser1217Pro)
c.3661T>C (p.Ser1221Pro)
c.3634T>C (p.Ser1212Pro)
c.3580T>C (p.Ser1194Pro)
c.2980T>C (p.Ser994Pro)
c.3928T>C (p.Ser1310Pro)
c.3925T>C (p.Ser1309Pro)
c.3844T>C (p.Ser1282Pro)
c.3775T>C (p.Ser1259Pro)
c.3643T>C (p.Ser1215Pro)
c.3511T>C (p.Ser1171Pro)
20g.32436376T>GCA9808873ASXL1c.3664T>G (p.Ser1222Ala)
c.3481T>G (p.Ser1161Ala)
n.6017T>G
c.1869+1795T>G (n.1869+1795T>G)
c.3649T>G (p.Ser1217Ala)
c.3661T>G (p.Ser1221Ala)
c.3634T>G (p.Ser1212Ala)
c.3580T>G (p.Ser1194Ala)
c.2980T>G (p.Ser994Ala)
c.3928T>G (p.Ser1310Ala)
c.3925T>G (p.Ser1309Ala)
c.3844T>G (p.Ser1282Ala)
c.3775T>G (p.Ser1259Ala)
c.3643T>G (p.Ser1215Ala)
c.3511T>G (p.Ser1171Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436376T=CA2360293672ASXL1c.3664T= (p.Ser1222=)
c.3481T= (p.Ser1161=)
n.6017T=
c.1869+1795T= (n.1869+1795T=)
c.3649T= (p.Ser1217=)
c.3661T= (p.Ser1221=)
c.3634T= (p.Ser1212=)
c.3580T= (p.Ser1194=)
c.2980T= (p.Ser994=)
c.3928T= (p.Ser1310=)
c.3925T= (p.Ser1309=)
c.3844T= (p.Ser1282=)
c.3775T= (p.Ser1259=)
c.3643T= (p.Ser1215=)
c.3511T= (p.Ser1171=)
20g.32436378_32436380delCA2652401236ASXL1c.3666_3668del (p.Ser1223del)
c.3483_3485del (p.Ser1162del)
n.6019_6021del
c.1869+1797_1869+1799del (n.1869+1797_1869+1799del)
c.3651_3653del (p.Ser1218del)
c.3663_3665del (p.Ser1222del)
c.3636_3638del (p.Ser1213del)
c.3582_3584del (p.Ser1195del)
c.2982_2984del (p.Ser995del)
c.3930_3932del (p.Ser1311del)
c.3927_3929del (p.Ser1310del)
c.3846_3848del (p.Ser1283del)
c.3777_3779del (p.Ser1260del)
c.3645_3647del (p.Ser1216del)
c.3513_3515del (p.Ser1172del)
 gnomAD v4
20g.32436377C>ACA408563536ASXL1c.3665C>A (p.Ser1222Tyr)
c.3482C>A (p.Ser1161Tyr)
n.6018C>A
c.1869+1796C>A (n.1869+1796C>A)
c.3650C>A (p.Ser1217Tyr)
c.3662C>A (p.Ser1221Tyr)
c.3635C>A (p.Ser1212Tyr)
c.3581C>A (p.Ser1194Tyr)
c.2981C>A (p.Ser994Tyr)
c.3929C>A (p.Ser1310Tyr)
c.3926C>A (p.Ser1309Tyr)
c.3845C>A (p.Ser1282Tyr)
c.3776C>A (p.Ser1259Tyr)
c.3644C>A (p.Ser1215Tyr)
c.3512C>A (p.Ser1171Tyr)
20g.32436377C=CA2360293673ASXL1c.3665C= (p.Ser1222=)
c.3482C= (p.Ser1161=)
n.6018C=
c.1869+1796C= (n.1869+1796C=)
c.3650C= (p.Ser1217=)
c.3662C= (p.Ser1221=)
c.3635C= (p.Ser1212=)
c.3581C= (p.Ser1194=)
c.2981C= (p.Ser994=)
c.3929C= (p.Ser1310=)
c.3926C= (p.Ser1309=)
c.3845C= (p.Ser1282=)
c.3776C= (p.Ser1259=)
c.3644C= (p.Ser1215=)
c.3512C= (p.Ser1171=)
20g.32436377C>GCA408563537ASXL1c.3665C>G (p.Ser1222Cys)
c.3482C>G (p.Ser1161Cys)
n.6018C>G
c.1869+1796C>G (n.1869+1796C>G)
c.3650C>G (p.Ser1217Cys)
c.3662C>G (p.Ser1221Cys)
c.3635C>G (p.Ser1212Cys)
c.3581C>G (p.Ser1194Cys)
c.2981C>G (p.Ser994Cys)
c.3929C>G (p.Ser1310Cys)
c.3926C>G (p.Ser1309Cys)
c.3845C>G (p.Ser1282Cys)
c.3776C>G (p.Ser1259Cys)
c.3644C>G (p.Ser1215Cys)
c.3512C>G (p.Ser1171Cys)
20g.32436377C>TCA408563538ASXL1c.3665C>T (p.Ser1222Phe)
c.3482C>T (p.Ser1161Phe)
n.6018C>T
c.1869+1796C>T (n.1869+1796C>T)
c.3650C>T (p.Ser1217Phe)
c.3662C>T (p.Ser1221Phe)
c.3635C>T (p.Ser1212Phe)
c.3581C>T (p.Ser1194Phe)
c.2981C>T (p.Ser994Phe)
c.3929C>T (p.Ser1310Phe)
c.3926C>T (p.Ser1309Phe)
c.3845C>T (p.Ser1282Phe)
c.3776C>T (p.Ser1259Phe)
c.3644C>T (p.Ser1215Phe)
c.3512C>T (p.Ser1171Phe)
 dbSNP gnomAD v3 gnomAD v4
20g.32436378C>ACA510467410ASXL1c.3666C>A (p.Ser1222=)
c.3483C>A (p.Ser1161=)
n.6019C>A
c.1869+1797C>A (n.1869+1797C>A)
c.3651C>A (p.Ser1217=)
c.3663C>A (p.Ser1221=)
c.3636C>A (p.Ser1212=)
c.3582C>A (p.Ser1194=)
c.2982C>A (p.Ser994=)
c.3930C>A (p.Ser1310=)
c.3927C>A (p.Ser1309=)
c.3846C>A (p.Ser1282=)
c.3777C>A (p.Ser1259=)
c.3645C>A (p.Ser1215=)
c.3513C>A (p.Ser1171=)
20g.32436378C=CA2360293674ASXL1c.3666C= (p.Ser1222=)
c.3483C= (p.Ser1161=)
n.6019C=
c.1869+1797C= (n.1869+1797C=)
c.3651C= (p.Ser1217=)
c.3663C= (p.Ser1221=)
c.3636C= (p.Ser1212=)
c.3582C= (p.Ser1194=)
c.2982C= (p.Ser994=)
c.3930C= (p.Ser1310=)
c.3927C= (p.Ser1309=)
c.3846C= (p.Ser1282=)
c.3777C= (p.Ser1259=)
c.3645C= (p.Ser1215=)
c.3513C= (p.Ser1171=)
20g.32436378C>GCA510467411ASXL1c.3666C>G (p.Ser1222=)
c.3483C>G (p.Ser1161=)
n.6019C>G
c.1869+1797C>G (n.1869+1797C>G)
c.3651C>G (p.Ser1217=)
c.3663C>G (p.Ser1221=)
c.3636C>G (p.Ser1212=)
c.3582C>G (p.Ser1194=)
c.2982C>G (p.Ser994=)
c.3930C>G (p.Ser1310=)
c.3927C>G (p.Ser1309=)
c.3846C>G (p.Ser1282=)
c.3777C>G (p.Ser1259=)
c.3645C>G (p.Ser1215=)
c.3513C>G (p.Ser1171=)
20g.32436378C>TCA510467414ASXL1c.3666C>T (p.Ser1222=)
c.3483C>T (p.Ser1161=)
n.6019C>T
c.1869+1797C>T (n.1869+1797C>T)
c.3651C>T (p.Ser1217=)
c.3663C>T (p.Ser1221=)
c.3636C>T (p.Ser1212=)
c.3582C>T (p.Ser1194=)
c.2982C>T (p.Ser994=)
c.3930C>T (p.Ser1310=)
c.3927C>T (p.Ser1309=)
c.3846C>T (p.Ser1282=)
c.3777C>T (p.Ser1259=)
c.3645C>T (p.Ser1215=)
c.3513C>T (p.Ser1171=)
 dbSNP gnomAD v2 gnomAD v4
20g.32436379T>ACA408563539ASXL1c.3667T>A (p.Ser1223Thr)
c.3484T>A (p.Ser1162Thr)
n.6020T>A
c.1869+1798T>A (n.1869+1798T>A)
c.3652T>A (p.Ser1218Thr)
c.3664T>A (p.Ser1222Thr)
c.3637T>A (p.Ser1213Thr)
c.3583T>A (p.Ser1195Thr)
c.2983T>A (p.Ser995Thr)
c.3931T>A (p.Ser1311Thr)
c.3928T>A (p.Ser1310Thr)
c.3847T>A (p.Ser1283Thr)
c.3778T>A (p.Ser1260Thr)
c.3646T>A (p.Ser1216Thr)
c.3514T>A (p.Ser1172Thr)
20g.32436379T>CCA408563540ASXL1c.3667T>C (p.Ser1223Pro)
c.3484T>C (p.Ser1162Pro)
n.6020T>C
c.1869+1798T>C (n.1869+1798T>C)
c.3652T>C (p.Ser1218Pro)
c.3664T>C (p.Ser1222Pro)
c.3637T>C (p.Ser1213Pro)
c.3583T>C (p.Ser1195Pro)
c.2983T>C (p.Ser995Pro)
c.3931T>C (p.Ser1311Pro)
c.3928T>C (p.Ser1310Pro)
c.3847T>C (p.Ser1283Pro)
c.3778T>C (p.Ser1260Pro)
c.3646T>C (p.Ser1216Pro)
c.3514T>C (p.Ser1172Pro)
20g.32436379T>GCA408563541ASXL1c.3667T>G (p.Ser1223Ala)
c.3484T>G (p.Ser1162Ala)
n.6020T>G
c.1869+1798T>G (n.1869+1798T>G)
c.3652T>G (p.Ser1218Ala)
c.3664T>G (p.Ser1222Ala)
c.3637T>G (p.Ser1213Ala)
c.3583T>G (p.Ser1195Ala)
c.2983T>G (p.Ser995Ala)
c.3931T>G (p.Ser1311Ala)
c.3928T>G (p.Ser1310Ala)
c.3847T>G (p.Ser1283Ala)
c.3778T>G (p.Ser1260Ala)
c.3646T>G (p.Ser1216Ala)
c.3514T>G (p.Ser1172Ala)
 gnomAD v4
20g.32436380C>ACA408563543ASXL1c.3668C>A (p.Ser1223Tyr)
c.3485C>A (p.Ser1162Tyr)
n.6021C>A
c.1869+1799C>A (n.1869+1799C>A)
c.3653C>A (p.Ser1218Tyr)
c.3665C>A (p.Ser1222Tyr)
c.3638C>A (p.Ser1213Tyr)
c.3584C>A (p.Ser1195Tyr)
c.2984C>A (p.Ser995Tyr)
c.3932C>A (p.Ser1311Tyr)
c.3929C>A (p.Ser1310Tyr)
c.3848C>A (p.Ser1283Tyr)
c.3779C>A (p.Ser1260Tyr)
c.3647C>A (p.Ser1216Tyr)
c.3515C>A (p.Ser1172Tyr)
20g.32436380C=CA2360293675ASXL1c.3668C= (p.Ser1223=)
c.3485C= (p.Ser1162=)
n.6021C=
c.1869+1799C= (n.1869+1799C=)
c.3653C= (p.Ser1218=)
c.3665C= (p.Ser1222=)
c.3638C= (p.Ser1213=)
c.3584C= (p.Ser1195=)
c.2984C= (p.Ser995=)
c.3932C= (p.Ser1311=)
c.3929C= (p.Ser1310=)
c.3848C= (p.Ser1283=)
c.3779C= (p.Ser1260=)
c.3647C= (p.Ser1216=)
c.3515C= (p.Ser1172=)
20g.32436380C>GCA408563544ASXL1c.3668C>G (p.Ser1223Cys)
c.3485C>G (p.Ser1162Cys)
n.6021C>G
c.1869+1799C>G (n.1869+1799C>G)
c.3653C>G (p.Ser1218Cys)
c.3665C>G (p.Ser1222Cys)
c.3638C>G (p.Ser1213Cys)
c.3584C>G (p.Ser1195Cys)
c.2984C>G (p.Ser995Cys)
c.3932C>G (p.Ser1311Cys)
c.3929C>G (p.Ser1310Cys)
c.3848C>G (p.Ser1283Cys)
c.3779C>G (p.Ser1260Cys)
c.3647C>G (p.Ser1216Cys)
c.3515C>G (p.Ser1172Cys)
20g.32436380C>TCA408563542ASXL1c.3668C>T (p.Ser1223Phe)
c.3485C>T (p.Ser1162Phe)
n.6021C>T
c.1869+1799C>T (n.1869+1799C>T)
c.3653C>T (p.Ser1218Phe)
c.3665C>T (p.Ser1222Phe)
c.3638C>T (p.Ser1213Phe)
c.3584C>T (p.Ser1195Phe)
c.2984C>T (p.Ser995Phe)
c.3932C>T (p.Ser1311Phe)
c.3929C>T (p.Ser1310Phe)
c.3848C>T (p.Ser1283Phe)
c.3779C>T (p.Ser1260Phe)
c.3647C>T (p.Ser1216Phe)
c.3515C>T (p.Ser1172Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436381T>ACA510467416ASXL1c.3669T>A (p.Ser1223=)
c.3486T>A (p.Ser1162=)
n.6022T>A
c.1869+1800T>A (n.1869+1800T>A)
c.3654T>A (p.Ser1218=)
c.3666T>A (p.Ser1222=)
c.3639T>A (p.Ser1213=)
c.3585T>A (p.Ser1195=)
c.2985T>A (p.Ser995=)
c.3933T>A (p.Ser1311=)
c.3930T>A (p.Ser1310=)
c.3849T>A (p.Ser1283=)
c.3780T>A (p.Ser1260=)
c.3648T>A (p.Ser1216=)
c.3516T>A (p.Ser1172=)
20g.32436381T>CCA510467417ASXL1c.3669T>C (p.Ser1223=)
c.3486T>C (p.Ser1162=)
n.6022T>C
c.1869+1800T>C (n.1869+1800T>C)
c.3654T>C (p.Ser1218=)
c.3666T>C (p.Ser1222=)
c.3639T>C (p.Ser1213=)
c.3585T>C (p.Ser1195=)
c.2985T>C (p.Ser995=)
c.3933T>C (p.Ser1311=)
c.3930T>C (p.Ser1310=)
c.3849T>C (p.Ser1283=)
c.3780T>C (p.Ser1260=)
c.3648T>C (p.Ser1216=)
c.3516T>C (p.Ser1172=)
20g.32436381T>GCA510467418ASXL1c.3669T>G (p.Ser1223=)
c.3486T>G (p.Ser1162=)
n.6022T>G
c.1869+1800T>G (n.1869+1800T>G)
c.3654T>G (p.Ser1218=)
c.3666T>G (p.Ser1222=)
c.3639T>G (p.Ser1213=)
c.3585T>G (p.Ser1195=)
c.2985T>G (p.Ser995=)
c.3933T>G (p.Ser1311=)
c.3930T>G (p.Ser1310=)
c.3849T>G (p.Ser1283=)
c.3780T>G (p.Ser1260=)
c.3648T>G (p.Ser1216=)
c.3516T>G (p.Ser1172=)
20g.32436382A>CCA510467420ASXL1c.3670A>C (p.Arg1224=)
c.3487A>C (p.Arg1163=)
n.6023A>C
c.1869+1801A>C (n.1869+1801A>C)
c.3655A>C (p.Arg1219=)
c.3667A>C (p.Arg1223=)
c.3640A>C (p.Arg1214=)
c.3586A>C (p.Arg1196=)
c.2986A>C (p.Arg996=)
c.3934A>C (p.Arg1312=)
c.3931A>C (p.Arg1311=)
c.3850A>C (p.Arg1284=)
c.3781A>C (p.Arg1261=)
c.3649A>C (p.Arg1217=)
c.3517A>C (p.Arg1173=)
20g.32436382A>GCA408563545ASXL1c.3670A>G (p.Arg1224Gly)
c.3487A>G (p.Arg1163Gly)
n.6023A>G
c.1869+1801A>G (n.1869+1801A>G)
c.3655A>G (p.Arg1219Gly)
c.3667A>G (p.Arg1223Gly)
c.3640A>G (p.Arg1214Gly)
c.3586A>G (p.Arg1196Gly)
c.2986A>G (p.Arg996Gly)
c.3934A>G (p.Arg1312Gly)
c.3931A>G (p.Arg1311Gly)
c.3850A>G (p.Arg1284Gly)
c.3781A>G (p.Arg1261Gly)
c.3649A>G (p.Arg1217Gly)
c.3517A>G (p.Arg1173Gly)
 gnomAD v4
20g.32436382A>TCA408563546ASXL1c.3670A>T (p.Arg1224Trp)
c.3487A>T (p.Arg1163Trp)
n.6023A>T
c.1869+1801A>T (n.1869+1801A>T)
c.3655A>T (p.Arg1219Trp)
c.3667A>T (p.Arg1223Trp)
c.3640A>T (p.Arg1214Trp)
c.3586A>T (p.Arg1196Trp)
c.2986A>T (p.Arg996Trp)
c.3934A>T (p.Arg1312Trp)
c.3931A>T (p.Arg1311Trp)
c.3850A>T (p.Arg1284Trp)
c.3781A>T (p.Arg1261Trp)
c.3649A>T (p.Arg1217Trp)
c.3517A>T (p.Arg1173Trp)
20g.32436383G>ACA408563547ASXL1c.3671G>A (p.Arg1224Lys)
c.3488G>A (p.Arg1163Lys)
n.6024G>A
c.1869+1802G>A (n.1869+1802G>A)
c.3656G>A (p.Arg1219Lys)
c.3668G>A (p.Arg1223Lys)
c.3641G>A (p.Arg1214Lys)
c.3587G>A (p.Arg1196Lys)
c.2987G>A (p.Arg996Lys)
c.3935G>A (p.Arg1312Lys)
c.3932G>A (p.Arg1311Lys)
c.3851G>A (p.Arg1284Lys)
c.3782G>A (p.Arg1261Lys)
c.3650G>A (p.Arg1217Lys)
c.3518G>A (p.Arg1173Lys)
20g.32436383G>CCA9808874ASXL1c.3671G>C (p.Arg1224Thr)
c.3488G>C (p.Arg1163Thr)
n.6024G>C
c.1869+1802G>C (n.1869+1802G>C)
c.3656G>C (p.Arg1219Thr)
c.3668G>C (p.Arg1223Thr)
c.3641G>C (p.Arg1214Thr)
c.3587G>C (p.Arg1196Thr)
c.2987G>C (p.Arg996Thr)
c.3935G>C (p.Arg1312Thr)
c.3932G>C (p.Arg1311Thr)
c.3851G>C (p.Arg1284Thr)
c.3782G>C (p.Arg1261Thr)
c.3650G>C (p.Arg1217Thr)
c.3518G>C (p.Arg1173Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.32436383G=CA2360293676ASXL1c.3671G= (p.Arg1224=)
c.3488G= (p.Arg1163=)
n.6024G=
c.1869+1802G= (n.1869+1802G=)
c.3656G= (p.Arg1219=)
c.3668G= (p.Arg1223=)
c.3641G= (p.Arg1214=)
c.3587G= (p.Arg1196=)
c.2987G= (p.Arg996=)
c.3935G= (p.Arg1312=)
c.3932G= (p.Arg1311=)
c.3851G= (p.Arg1284=)
c.3782G= (p.Arg1261=)
c.3650G= (p.Arg1217=)
c.3518G= (p.Arg1173=)
20g.32436383G>TCA408563548ASXL1c.3671G>T (p.Arg1224Met)
c.3488G>T (p.Arg1163Met)
n.6024G>T
c.1869+1802G>T (n.1869+1802G>T)
c.3656G>T (p.Arg1219Met)
c.3668G>T (p.Arg1223Met)
c.3641G>T (p.Arg1214Met)
c.3587G>T (p.Arg1196Met)
c.2987G>T (p.Arg996Met)
c.3935G>T (p.Arg1312Met)
c.3932G>T (p.Arg1311Met)
c.3851G>T (p.Arg1284Met)
c.3782G>T (p.Arg1261Met)
c.3650G>T (p.Arg1217Met)
c.3518G>T (p.Arg1173Met)
20g.32436384G>ACA510467421ASXL1c.3672G>A (p.Arg1224=)
c.3489G>A (p.Arg1163=)
n.6025G>A
c.1869+1803G>A (n.1869+1803G>A)
c.3657G>A (p.Arg1219=)
c.3669G>A (p.Arg1223=)
c.3642G>A (p.Arg1214=)
c.3588G>A (p.Arg1196=)
c.2988G>A (p.Arg996=)
c.3936G>A (p.Arg1312=)
c.3933G>A (p.Arg1311=)
c.3852G>A (p.Arg1284=)
c.3783G>A (p.Arg1261=)
c.3651G>A (p.Arg1217=)
c.3519G>A (p.Arg1173=)
20g.32436384G>CCA408563549ASXL1c.3672G>C (p.Arg1224Ser)
c.3489G>C (p.Arg1163Ser)
n.6025G>C
c.1869+1803G>C (n.1869+1803G>C)
c.3657G>C (p.Arg1219Ser)
c.3669G>C (p.Arg1223Ser)
c.3642G>C (p.Arg1214Ser)
c.3588G>C (p.Arg1196Ser)
c.2988G>C (p.Arg996Ser)
c.3936G>C (p.Arg1312Ser)
c.3933G>C (p.Arg1311Ser)
c.3852G>C (p.Arg1284Ser)
c.3783G>C (p.Arg1261Ser)
c.3651G>C (p.Arg1217Ser)
c.3519G>C (p.Arg1173Ser)
 dbSNP
20g.32436384G>TCA408563550ASXL1c.3672G>T (p.Arg1224Ser)
c.3489G>T (p.Arg1163Ser)
n.6025G>T
c.1869+1803G>T (n.1869+1803G>T)
c.3657G>T (p.Arg1219Ser)
c.3669G>T (p.Arg1223Ser)
c.3642G>T (p.Arg1214Ser)
c.3588G>T (p.Arg1196Ser)
c.2988G>T (p.Arg996Ser)
c.3936G>T (p.Arg1312Ser)
c.3933G>T (p.Arg1311Ser)
c.3852G>T (p.Arg1284Ser)
c.3783G>T (p.Arg1261Ser)
c.3651G>T (p.Arg1217Ser)
c.3519G>T (p.Arg1173Ser)
 dbSNP
20g.32436385A>CCA408563551ASXL1c.3673A>C (p.Lys1225Gln)
c.3490A>C (p.Lys1164Gln)
n.6026A>C
c.1869+1804A>C (n.1869+1804A>C)
c.3658A>C (p.Lys1220Gln)
c.3670A>C (p.Lys1224Gln)
c.3643A>C (p.Lys1215Gln)
c.3589A>C (p.Lys1197Gln)
c.2989A>C (p.Lys997Gln)
c.3937A>C (p.Lys1313Gln)
c.3934A>C (p.Lys1312Gln)
c.3853A>C (p.Lys1285Gln)
c.3784A>C (p.Lys1262Gln)
c.3652A>C (p.Lys1218Gln)
c.3520A>C (p.Lys1174Gln)
20g.32436385A>GCA408563552ASXL1c.3673A>G (p.Lys1225Glu)
c.3490A>G (p.Lys1164Glu)
n.6026A>G
c.1869+1804A>G (n.1869+1804A>G)
c.3658A>G (p.Lys1220Glu)
c.3670A>G (p.Lys1224Glu)
c.3643A>G (p.Lys1215Glu)
c.3589A>G (p.Lys1197Glu)
c.2989A>G (p.Lys997Glu)
c.3937A>G (p.Lys1313Glu)
c.3934A>G (p.Lys1312Glu)
c.3853A>G (p.Lys1285Glu)
c.3784A>G (p.Lys1262Glu)
c.3652A>G (p.Lys1218Glu)
c.3520A>G (p.Lys1174Glu)
20g.32436385A>TCA408563553ASXL1c.3673A>T (p.Lys1225Ter)
c.3490A>T (p.Lys1164Ter)
n.6026A>T
c.1869+1804A>T (n.1869+1804A>T)
c.3658A>T (p.Lys1220Ter)
c.3670A>T (p.Lys1224Ter)
c.3643A>T (p.Lys1215Ter)
c.3589A>T (p.Lys1197Ter)
c.2989A>T (p.Lys997Ter)
c.3937A>T (p.Lys1313Ter)
c.3934A>T (p.Lys1312Ter)
c.3853A>T (p.Lys1285Ter)
c.3784A>T (p.Lys1262Ter)
c.3652A>T (p.Lys1218Ter)
c.3520A>T (p.Lys1174Ter)
20g.32436386A>CCA408563554ASXL1c.3674A>C (p.Lys1225Thr)
c.3491A>C (p.Lys1164Thr)
n.6027A>C
c.1869+1805A>C (n.1869+1805A>C)
c.3659A>C (p.Lys1220Thr)
c.3671A>C (p.Lys1224Thr)
c.3644A>C (p.Lys1215Thr)
c.3590A>C (p.Lys1197Thr)
c.2990A>C (p.Lys997Thr)
c.3938A>C (p.Lys1313Thr)
c.3935A>C (p.Lys1312Thr)
c.3854A>C (p.Lys1285Thr)
c.3785A>C (p.Lys1262Thr)
c.3653A>C (p.Lys1218Thr)
c.3521A>C (p.Lys1174Thr)
20g.32436386A>GCA408563555ASXL1c.3674A>G (p.Lys1225Arg)
c.3491A>G (p.Lys1164Arg)
n.6027A>G
c.1869+1805A>G (n.1869+1805A>G)
c.3659A>G (p.Lys1220Arg)
c.3671A>G (p.Lys1224Arg)
c.3644A>G (p.Lys1215Arg)
c.3590A>G (p.Lys1197Arg)
c.2990A>G (p.Lys997Arg)
c.3938A>G (p.Lys1313Arg)
c.3935A>G (p.Lys1312Arg)
c.3854A>G (p.Lys1285Arg)
c.3785A>G (p.Lys1262Arg)
c.3653A>G (p.Lys1218Arg)
c.3521A>G (p.Lys1174Arg)
 ClinVar dbSNP gnomAD v4
20g.32436386A>TCA408563556ASXL1c.3674A>T (p.Lys1225Ile)
c.3491A>T (p.Lys1164Ile)
n.6027A>T
c.1869+1805A>T (n.1869+1805A>T)
c.3659A>T (p.Lys1220Ile)
c.3671A>T (p.Lys1224Ile)
c.3644A>T (p.Lys1215Ile)
c.3590A>T (p.Lys1197Ile)
c.2990A>T (p.Lys997Ile)
c.3938A>T (p.Lys1313Ile)
c.3935A>T (p.Lys1312Ile)
c.3854A>T (p.Lys1285Ile)
c.3785A>T (p.Lys1262Ile)
c.3653A>T (p.Lys1218Ile)
c.3521A>T (p.Lys1174Ile)
20g.32436387A=CA2360293677ASXL1c.3675A= (p.Lys1225=)
c.3492A= (p.Lys1164=)
n.6028A=
c.1869+1806A= (n.1869+1806A=)
c.3660A= (p.Lys1220=)
c.3672A= (p.Lys1224=)
c.3645A= (p.Lys1215=)
c.3591A= (p.Lys1197=)
c.2991A= (p.Lys997=)
c.3939A= (p.Lys1313=)
c.3936A= (p.Lys1312=)
c.3855A= (p.Lys1285=)
c.3786A= (p.Lys1262=)
c.3654A= (p.Lys1218=)
c.3522A= (p.Lys1174=)
20g.32436387A>CCA408563557ASXL1c.3675A>C (p.Lys1225Asn)
c.3492A>C (p.Lys1164Asn)
n.6028A>C
c.1869+1806A>C (n.1869+1806A>C)
c.3660A>C (p.Lys1220Asn)
c.3672A>C (p.Lys1224Asn)
c.3645A>C (p.Lys1215Asn)
c.3591A>C (p.Lys1197Asn)
c.2991A>C (p.Lys997Asn)
c.3939A>C (p.Lys1313Asn)
c.3936A>C (p.Lys1312Asn)
c.3855A>C (p.Lys1285Asn)
c.3786A>C (p.Lys1262Asn)
c.3654A>C (p.Lys1218Asn)
c.3522A>C (p.Lys1174Asn)
 dbSNP gnomAD v4
20g.32436387A>GCA510467541ASXL1c.3675A>G (p.Lys1225=)
c.3492A>G (p.Lys1164=)
n.6028A>G
c.1869+1806A>G (n.1869+1806A>G)
c.3660A>G (p.Lys1220=)
c.3672A>G (p.Lys1224=)
c.3645A>G (p.Lys1215=)
c.3591A>G (p.Lys1197=)
c.2991A>G (p.Lys997=)
c.3939A>G (p.Lys1313=)
c.3936A>G (p.Lys1312=)
c.3855A>G (p.Lys1285=)
c.3786A>G (p.Lys1262=)
c.3654A>G (p.Lys1218=)
c.3522A>G (p.Lys1174=)
20g.32436387A>TCA9808875ASXL1c.3675A>T (p.Lys1225Asn)
c.3492A>T (p.Lys1164Asn)
n.6028A>T
c.1869+1806A>T (n.1869+1806A>T)
c.3660A>T (p.Lys1220Asn)
c.3672A>T (p.Lys1224Asn)
c.3645A>T (p.Lys1215Asn)
c.3591A>T (p.Lys1197Asn)
c.2991A>T (p.Lys997Asn)
c.3939A>T (p.Lys1313Asn)
c.3936A>T (p.Lys1312Asn)
c.3855A>T (p.Lys1285Asn)
c.3786A>T (p.Lys1262Asn)
c.3654A>T (p.Lys1218Asn)
c.3522A>T (p.Lys1174Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436388C>ACA408563558ASXL1c.3676C>A (p.Leu1226Met)
c.3493C>A (p.Leu1165Met)
n.6029C>A
c.1869+1807C>A (n.1869+1807C>A)
c.3661C>A (p.Leu1221Met)
c.3673C>A (p.Leu1225Met)
c.3646C>A (p.Leu1216Met)
c.3592C>A (p.Leu1198Met)
c.2992C>A (p.Leu998Met)
c.3940C>A (p.Leu1314Met)
c.3937C>A (p.Leu1313Met)
c.3856C>A (p.Leu1286Met)
c.3787C>A (p.Leu1263Met)
c.3655C>A (p.Leu1219Met)
c.3523C>A (p.Leu1175Met)
20g.32436388C=CA2360293678ASXL1c.3676C= (p.Leu1226=)
c.3493C= (p.Leu1165=)
n.6029C=
c.1869+1807C= (n.1869+1807C=)
c.3661C= (p.Leu1221=)
c.3673C= (p.Leu1225=)
c.3646C= (p.Leu1216=)
c.3592C= (p.Leu1198=)
c.2992C= (p.Leu998=)
c.3940C= (p.Leu1314=)
c.3937C= (p.Leu1313=)
c.3856C= (p.Leu1286=)
c.3787C= (p.Leu1263=)
c.3655C= (p.Leu1219=)
c.3523C= (p.Leu1175=)
20g.32436388C>GCA408563559ASXL1c.3676C>G (p.Leu1226Val)
c.3493C>G (p.Leu1165Val)
n.6029C>G
c.1869+1807C>G (n.1869+1807C>G)
c.3661C>G (p.Leu1221Val)
c.3673C>G (p.Leu1225Val)
c.3646C>G (p.Leu1216Val)
c.3592C>G (p.Leu1198Val)
c.2992C>G (p.Leu998Val)
c.3940C>G (p.Leu1314Val)
c.3937C>G (p.Leu1313Val)
c.3856C>G (p.Leu1286Val)
c.3787C>G (p.Leu1263Val)
c.3655C>G (p.Leu1219Val)
c.3523C>G (p.Leu1175Val)
20g.32436388C>TCA510467542ASXL1c.3676C>T (p.Leu1226=)
c.3493C>T (p.Leu1165=)
n.6029C>T
c.1869+1807C>T (n.1869+1807C>T)
c.3661C>T (p.Leu1221=)
c.3673C>T (p.Leu1225=)
c.3646C>T (p.Leu1216=)
c.3592C>T (p.Leu1198=)
c.2992C>T (p.Leu998=)
c.3940C>T (p.Leu1314=)
c.3937C>T (p.Leu1313=)
c.3856C>T (p.Leu1286=)
c.3787C>T (p.Leu1263=)
c.3655C>T (p.Leu1219=)
c.3523C>T (p.Leu1175=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.32436389T>ACA9808876ASXL1c.3677T>A (p.Leu1226Gln)
c.3494T>A (p.Leu1165Gln)
n.6030T>A
c.1869+1808T>A (n.1869+1808T>A)
c.3662T>A (p.Leu1221Gln)
c.3674T>A (p.Leu1225Gln)
c.3647T>A (p.Leu1216Gln)
c.3593T>A (p.Leu1198Gln)
c.2993T>A (p.Leu998Gln)
c.3941T>A (p.Leu1314Gln)
c.3938T>A (p.Leu1313Gln)
c.3857T>A (p.Leu1286Gln)
c.3788T>A (p.Leu1263Gln)
c.3656T>A (p.Leu1219Gln)
c.3524T>A (p.Leu1175Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436389T>CCA408563560ASXL1c.3677T>C (p.Leu1226Pro)
c.3494T>C (p.Leu1165Pro)
n.6030T>C
c.1869+1808T>C (n.1869+1808T>C)
c.3662T>C (p.Leu1221Pro)
c.3674T>C (p.Leu1225Pro)
c.3647T>C (p.Leu1216Pro)
c.3593T>C (p.Leu1198Pro)
c.2993T>C (p.Leu998Pro)
c.3941T>C (p.Leu1314Pro)
c.3938T>C (p.Leu1313Pro)
c.3857T>C (p.Leu1286Pro)
c.3788T>C (p.Leu1263Pro)
c.3656T>C (p.Leu1219Pro)
c.3524T>C (p.Leu1175Pro)
20g.32436389T>GCA9808877ASXL1c.3677T>G (p.Leu1226Arg)
c.3494T>G (p.Leu1165Arg)
n.6030T>G
c.1869+1808T>G (n.1869+1808T>G)
c.3662T>G (p.Leu1221Arg)
c.3674T>G (p.Leu1225Arg)
c.3647T>G (p.Leu1216Arg)
c.3593T>G (p.Leu1198Arg)
c.2993T>G (p.Leu998Arg)
c.3941T>G (p.Leu1314Arg)
c.3938T>G (p.Leu1313Arg)
c.3857T>G (p.Leu1286Arg)
c.3788T>G (p.Leu1263Arg)
c.3656T>G (p.Leu1219Arg)
c.3524T>G (p.Leu1175Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436389T=CA2360293679ASXL1c.3677T= (p.Leu1226=)
c.3494T= (p.Leu1165=)
n.6030T=
c.1869+1808T= (n.1869+1808T=)
c.3662T= (p.Leu1221=)
c.3674T= (p.Leu1225=)
c.3647T= (p.Leu1216=)
c.3593T= (p.Leu1198=)
c.2993T= (p.Leu998=)
c.3941T= (p.Leu1314=)
c.3938T= (p.Leu1313=)
c.3857T= (p.Leu1286=)
c.3788T= (p.Leu1263=)
c.3656T= (p.Leu1219=)
c.3524T= (p.Leu1175=)
20g.32436389_32436390delCA2580098169ASXL1c.3677_3678del (p.Leu1226ArgfsTer13)
c.3494_3495del (p.Leu1165ArgfsTer13)
n.6030_6031del
c.1869+1808_1869+1809del (n.1869+1808_1869+1809del)
c.3662_3663del (p.Leu1221ArgfsTer13)
c.3674_3675del (p.Leu1225ArgfsTer13)
c.3647_3648del (p.Leu1216ArgfsTer13)
c.3593_3594del (p.Leu1198ArgfsTer13)
c.2993_2994del (p.Leu998ArgfsTer13)
c.3941_3942del (p.Leu1314ArgfsTer13)
c.3938_3939del (p.Leu1313ArgfsTer13)
c.3857_3858del (p.Leu1286ArgfsTer13)
c.3788_3789del (p.Leu1263ArgfsTer13)
c.3656_3657del (p.Leu1219ArgfsTer13)
c.3524_3525del (p.Leu1175ArgfsTer13)
 ClinVar
20g.32436390G>ACA510467547ASXL1c.3678G>A (p.Leu1226=)
c.3495G>A (p.Leu1165=)
n.6031G>A
c.1869+1809G>A (n.1869+1809G>A)
c.3663G>A (p.Leu1221=)
c.3675G>A (p.Leu1225=)
c.3648G>A (p.Leu1216=)
c.3594G>A (p.Leu1198=)
c.2994G>A (p.Leu998=)
c.3942G>A (p.Leu1314=)
c.3939G>A (p.Leu1313=)
c.3858G>A (p.Leu1286=)
c.3789G>A (p.Leu1263=)
c.3657G>A (p.Leu1219=)
c.3525G>A (p.Leu1175=)
 gnomAD v4
20g.32436390G>CCA510467545ASXL1c.3678G>C (p.Leu1226=)
c.3495G>C (p.Leu1165=)
n.6031G>C
c.1869+1809G>C (n.1869+1809G>C)
c.3663G>C (p.Leu1221=)
c.3675G>C (p.Leu1225=)
c.3648G>C (p.Leu1216=)
c.3594G>C (p.Leu1198=)
c.2994G>C (p.Leu998=)
c.3942G>C (p.Leu1314=)
c.3939G>C (p.Leu1313=)
c.3858G>C (p.Leu1286=)
c.3789G>C (p.Leu1263=)
c.3657G>C (p.Leu1219=)
c.3525G>C (p.Leu1175=)
20g.32436390G>TCA510467546ASXL1c.3678G>T (p.Leu1226=)
c.3495G>T (p.Leu1165=)
n.6031G>T
c.1869+1809G>T (n.1869+1809G>T)
c.3663G>T (p.Leu1221=)
c.3675G>T (p.Leu1225=)
c.3648G>T (p.Leu1216=)
c.3594G>T (p.Leu1198=)
c.2994G>T (p.Leu998=)
c.3942G>T (p.Leu1314=)
c.3939G>T (p.Leu1313=)
c.3858G>T (p.Leu1286=)
c.3789G>T (p.Leu1263=)
c.3657G>T (p.Leu1219=)
c.3525G>T (p.Leu1175=)
20g.32436391G>ACA9808878ASXL1c.3679G>A (p.Glu1227Lys)
c.3496G>A (p.Glu1166Lys)
n.6032G>A
c.1869+1810G>A (n.1869+1810G>A)
c.3664G>A (p.Glu1222Lys)
c.3676G>A (p.Glu1226Lys)
c.3649G>A (p.Glu1217Lys)
c.3595G>A (p.Glu1199Lys)
c.2995G>A (p.Glu999Lys)
c.3943G>A (p.Glu1315Lys)
c.3940G>A (p.Glu1314Lys)
c.3859G>A (p.Glu1287Lys)
c.3790G>A (p.Glu1264Lys)
c.3658G>A (p.Glu1220Lys)
c.3526G>A (p.Glu1176Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436391G>CCA408563561ASXL1c.3679G>C (p.Glu1227Gln)
c.3496G>C (p.Glu1166Gln)
n.6032G>C
c.1869+1810G>C (n.1869+1810G>C)
c.3664G>C (p.Glu1222Gln)
c.3676G>C (p.Glu1226Gln)
c.3649G>C (p.Glu1217Gln)
c.3595G>C (p.Glu1199Gln)
c.2995G>C (p.Glu999Gln)
c.3943G>C (p.Glu1315Gln)
c.3940G>C (p.Glu1314Gln)
c.3859G>C (p.Glu1287Gln)
c.3790G>C (p.Glu1264Gln)
c.3658G>C (p.Glu1220Gln)
c.3526G>C (p.Glu1176Gln)
20g.32436391G=CA2360293680ASXL1c.3679G= (p.Glu1227=)
c.3496G= (p.Glu1166=)
n.6032G=
c.1869+1810G= (n.1869+1810G=)
c.3664G= (p.Glu1222=)
c.3676G= (p.Glu1226=)
c.3649G= (p.Glu1217=)
c.3595G= (p.Glu1199=)
c.2995G= (p.Glu999=)
c.3943G= (p.Glu1315=)
c.3940G= (p.Glu1314=)
c.3859G= (p.Glu1287=)
c.3790G= (p.Glu1264=)
c.3658G= (p.Glu1220=)
c.3526G= (p.Glu1176=)
20g.32436391G>TCA408563562ASXL1c.3679G>T (p.Glu1227Ter)
c.3496G>T (p.Glu1166Ter)
n.6032G>T
c.1869+1810G>T (n.1869+1810G>T)
c.3664G>T (p.Glu1222Ter)
c.3676G>T (p.Glu1226Ter)
c.3649G>T (p.Glu1217Ter)
c.3595G>T (p.Glu1199Ter)
c.2995G>T (p.Glu999Ter)
c.3943G>T (p.Glu1315Ter)
c.3940G>T (p.Glu1314Ter)
c.3859G>T (p.Glu1287Ter)
c.3790G>T (p.Glu1264Ter)
c.3658G>T (p.Glu1220Ter)
c.3526G>T (p.Glu1176Ter)
20g.32436392A>CCA408563563ASXL1c.3680A>C (p.Glu1227Ala)
c.3497A>C (p.Glu1166Ala)
n.6033A>C
c.1869+1811A>C (n.1869+1811A>C)
c.3665A>C (p.Glu1222Ala)
c.3677A>C (p.Glu1226Ala)
c.3650A>C (p.Glu1217Ala)
c.3596A>C (p.Glu1199Ala)
c.2996A>C (p.Glu999Ala)
c.3944A>C (p.Glu1315Ala)
c.3941A>C (p.Glu1314Ala)
c.3860A>C (p.Glu1287Ala)
c.3791A>C (p.Glu1264Ala)
c.3659A>C (p.Glu1220Ala)
c.3527A>C (p.Glu1176Ala)
20g.32436392A>GCA408563564ASXL1c.3680A>G (p.Glu1227Gly)
c.3497A>G (p.Glu1166Gly)
n.6033A>G
c.1869+1811A>G (n.1869+1811A>G)
c.3665A>G (p.Glu1222Gly)
c.3677A>G (p.Glu1226Gly)
c.3650A>G (p.Glu1217Gly)
c.3596A>G (p.Glu1199Gly)
c.2996A>G (p.Glu999Gly)
c.3944A>G (p.Glu1315Gly)
c.3941A>G (p.Glu1314Gly)
c.3860A>G (p.Glu1287Gly)
c.3791A>G (p.Glu1264Gly)
c.3659A>G (p.Glu1220Gly)
c.3527A>G (p.Glu1176Gly)
20g.32436392A>TCA408563565ASXL1c.3680A>T (p.Glu1227Val)
c.3497A>T (p.Glu1166Val)
n.6033A>T
c.1869+1811A>T (n.1869+1811A>T)
c.3665A>T (p.Glu1222Val)
c.3677A>T (p.Glu1226Val)
c.3650A>T (p.Glu1217Val)
c.3596A>T (p.Glu1199Val)
c.2996A>T (p.Glu999Val)
c.3944A>T (p.Glu1315Val)
c.3941A>T (p.Glu1314Val)
c.3860A>T (p.Glu1287Val)
c.3791A>T (p.Glu1264Val)
c.3659A>T (p.Glu1220Val)
c.3527A>T (p.Glu1176Val)
20g.32436393A=CA2360293681ASXL1c.3681A= (p.Glu1227=)
c.3498A= (p.Glu1166=)
n.6034A=
c.1869+1812A= (n.1869+1812A=)
c.3666A= (p.Glu1222=)
c.3678A= (p.Glu1226=)
c.3651A= (p.Glu1217=)
c.3597A= (p.Glu1199=)
c.2997A= (p.Glu999=)
c.3945A= (p.Glu1315=)
c.3942A= (p.Glu1314=)
c.3861A= (p.Glu1287=)
c.3792A= (p.Glu1264=)
c.3660A= (p.Glu1220=)
c.3528A= (p.Glu1176=)
20g.32436393A>CCA408563566ASXL1c.3681A>C (p.Glu1227Asp)
c.3498A>C (p.Glu1166Asp)
n.6034A>C
c.1869+1812A>C (n.1869+1812A>C)
c.3666A>C (p.Glu1222Asp)
c.3678A>C (p.Glu1226Asp)
c.3651A>C (p.Glu1217Asp)
c.3597A>C (p.Glu1199Asp)
c.2997A>C (p.Glu999Asp)
c.3945A>C (p.Glu1315Asp)
c.3942A>C (p.Glu1314Asp)
c.3861A>C (p.Glu1287Asp)
c.3792A>C (p.Glu1264Asp)
c.3660A>C (p.Glu1220Asp)
c.3528A>C (p.Glu1176Asp)
20g.32436393A>GCA510467549ASXL1c.3681A>G (p.Glu1227=)
c.3498A>G (p.Glu1166=)
n.6034A>G
c.1869+1812A>G (n.1869+1812A>G)
c.3666A>G (p.Glu1222=)
c.3678A>G (p.Glu1226=)
c.3651A>G (p.Glu1217=)
c.3597A>G (p.Glu1199=)
c.2997A>G (p.Glu999=)
c.3945A>G (p.Glu1315=)
c.3942A>G (p.Glu1314=)
c.3861A>G (p.Glu1287=)
c.3792A>G (p.Glu1264=)
c.3660A>G (p.Glu1220=)
c.3528A>G (p.Glu1176=)
 dbSNP gnomAD v3 gnomAD v4
20g.32436393A>TCA408563567ASXL1c.3681A>T (p.Glu1227Asp)
c.3498A>T (p.Glu1166Asp)
n.6034A>T
c.1869+1812A>T (n.1869+1812A>T)
c.3666A>T (p.Glu1222Asp)
c.3678A>T (p.Glu1226Asp)
c.3651A>T (p.Glu1217Asp)
c.3597A>T (p.Glu1199Asp)
c.2997A>T (p.Glu999Asp)
c.3945A>T (p.Glu1315Asp)
c.3942A>T (p.Glu1314Asp)
c.3861A>T (p.Glu1287Asp)
c.3792A>T (p.Glu1264Asp)
c.3660A>T (p.Glu1220Asp)
c.3528A>T (p.Glu1176Asp)
20g.32436394G>ACA408563568ASXL1c.3682G>A (p.Glu1228Lys)
c.3499G>A (p.Glu1167Lys)
n.6035G>A
c.1869+1813G>A (n.1869+1813G>A)
c.3667G>A (p.Glu1223Lys)
c.3679G>A (p.Glu1227Lys)
c.3652G>A (p.Glu1218Lys)
c.3598G>A (p.Glu1200Lys)
c.2998G>A (p.Glu1000Lys)
c.3946G>A (p.Glu1316Lys)
c.3943G>A (p.Glu1315Lys)
c.3862G>A (p.Glu1288Lys)
c.3793G>A (p.Glu1265Lys)
c.3661G>A (p.Glu1221Lys)
c.3529G>A (p.Glu1177Lys)
 dbSNP
20g.32436394G>CCA408563570ASXL1c.3682G>C (p.Glu1228Gln)
c.3499G>C (p.Glu1167Gln)
n.6035G>C
c.1869+1813G>C (n.1869+1813G>C)
c.3667G>C (p.Glu1223Gln)
c.3679G>C (p.Glu1227Gln)
c.3652G>C (p.Glu1218Gln)
c.3598G>C (p.Glu1200Gln)
c.2998G>C (p.Glu1000Gln)
c.3946G>C (p.Glu1316Gln)
c.3943G>C (p.Glu1315Gln)
c.3862G>C (p.Glu1288Gln)
c.3793G>C (p.Glu1265Gln)
c.3661G>C (p.Glu1221Gln)
c.3529G>C (p.Glu1177Gln)
20g.32436394G>TCA408563569ASXL1c.3682G>T (p.Glu1228Ter)
c.3499G>T (p.Glu1167Ter)
n.6035G>T
c.1869+1813G>T (n.1869+1813G>T)
c.3667G>T (p.Glu1223Ter)
c.3679G>T (p.Glu1227Ter)
c.3652G>T (p.Glu1218Ter)
c.3598G>T (p.Glu1200Ter)
c.2998G>T (p.Glu1000Ter)
c.3946G>T (p.Glu1316Ter)
c.3943G>T (p.Glu1315Ter)
c.3862G>T (p.Glu1288Ter)
c.3793G>T (p.Glu1265Ter)
c.3661G>T (p.Glu1221Ter)
c.3529G>T (p.Glu1177Ter)
 dbSNP COSMIC COSMIC
20g.32436395A>CCA408563571ASXL1c.3683A>C (p.Glu1228Ala)
c.3500A>C (p.Glu1167Ala)
n.6036A>C
c.1869+1814A>C (n.1869+1814A>C)
c.3668A>C (p.Glu1223Ala)
c.3680A>C (p.Glu1227Ala)
c.3653A>C (p.Glu1218Ala)
c.3599A>C (p.Glu1200Ala)
c.2999A>C (p.Glu1000Ala)
c.3947A>C (p.Glu1316Ala)
c.3944A>C (p.Glu1315Ala)
c.3863A>C (p.Glu1288Ala)
c.3794A>C (p.Glu1265Ala)
c.3662A>C (p.Glu1221Ala)
c.3530A>C (p.Glu1177Ala)
20g.32436395A>GCA408563572ASXL1c.3683A>G (p.Glu1228Gly)
c.3500A>G (p.Glu1167Gly)
n.6036A>G
c.1869+1814A>G (n.1869+1814A>G)
c.3668A>G (p.Glu1223Gly)
c.3680A>G (p.Glu1227Gly)
c.3653A>G (p.Glu1218Gly)
c.3599A>G (p.Glu1200Gly)
c.2999A>G (p.Glu1000Gly)
c.3947A>G (p.Glu1316Gly)
c.3944A>G (p.Glu1315Gly)
c.3863A>G (p.Glu1288Gly)
c.3794A>G (p.Glu1265Gly)
c.3662A>G (p.Glu1221Gly)
c.3530A>G (p.Glu1177Gly)
20g.32436395A>TCA408563573ASXL1c.3683A>T (p.Glu1228Val)
c.3500A>T (p.Glu1167Val)
n.6036A>T
c.1869+1814A>T (n.1869+1814A>T)
c.3668A>T (p.Glu1223Val)
c.3680A>T (p.Glu1227Val)
c.3653A>T (p.Glu1218Val)
c.3599A>T (p.Glu1200Val)
c.2999A>T (p.Glu1000Val)
c.3947A>T (p.Glu1316Val)
c.3944A>T (p.Glu1315Val)
c.3863A>T (p.Glu1288Val)
c.3794A>T (p.Glu1265Val)
c.3662A>T (p.Glu1221Val)
c.3530A>T (p.Glu1177Val)
20g.32436396A>CCA408563574ASXL1c.3684A>C (p.Glu1228Asp)
c.3501A>C (p.Glu1167Asp)
n.6037A>C
c.1869+1815A>C (n.1869+1815A>C)
c.3669A>C (p.Glu1223Asp)
c.3681A>C (p.Glu1227Asp)
c.3654A>C (p.Glu1218Asp)
c.3600A>C (p.Glu1200Asp)
c.3000A>C (p.Glu1000Asp)
c.3948A>C (p.Glu1316Asp)
c.3945A>C (p.Glu1315Asp)
c.3864A>C (p.Glu1288Asp)
c.3795A>C (p.Glu1265Asp)
c.3663A>C (p.Glu1221Asp)
c.3531A>C (p.Glu1177Asp)
20g.32436396A>GCA510467552ASXL1c.3684A>G (p.Glu1228=)
c.3501A>G (p.Glu1167=)
n.6037A>G
c.1869+1815A>G (n.1869+1815A>G)
c.3669A>G (p.Glu1223=)
c.3681A>G (p.Glu1227=)
c.3654A>G (p.Glu1218=)
c.3600A>G (p.Glu1200=)
c.3000A>G (p.Glu1000=)
c.3948A>G (p.Glu1316=)
c.3945A>G (p.Glu1315=)
c.3864A>G (p.Glu1288=)
c.3795A>G (p.Glu1265=)
c.3663A>G (p.Glu1221=)
c.3531A>G (p.Glu1177=)
20g.32436396A>TCA408563575ASXL1c.3684A>T (p.Glu1228Asp)
c.3501A>T (p.Glu1167Asp)
n.6037A>T
c.1869+1815A>T (n.1869+1815A>T)
c.3669A>T (p.Glu1223Asp)
c.3681A>T (p.Glu1227Asp)
c.3654A>T (p.Glu1218Asp)
c.3600A>T (p.Glu1200Asp)
c.3000A>T (p.Glu1000Asp)
c.3948A>T (p.Glu1316Asp)
c.3945A>T (p.Glu1315Asp)
c.3864A>T (p.Glu1288Asp)
c.3795A>T (p.Glu1265Asp)
c.3663A>T (p.Glu1221Asp)
c.3531A>T (p.Glu1177Asp)
20g.32436397A=CA2360293682ASXL1c.3685A= (p.Met1229=)
c.3502A= (p.Met1168=)
n.6038A=
c.1869+1816A= (n.1869+1816A=)
c.3670A= (p.Met1224=)
c.3682A= (p.Met1228=)
c.3655A= (p.Met1219=)
c.3601A= (p.Met1201=)
c.3001A= (p.Met1001=)
c.3949A= (p.Met1317=)
c.3946A= (p.Met1316=)
c.3865A= (p.Met1289=)
c.3796A= (p.Met1266=)
c.3664A= (p.Met1222=)
c.3532A= (p.Met1178=)
20g.32436397A>CCA408563576ASXL1c.3685A>C (p.Met1229Leu)
c.3502A>C (p.Met1168Leu)
n.6038A>C
c.1869+1816A>C (n.1869+1816A>C)
c.3670A>C (p.Met1224Leu)
c.3682A>C (p.Met1228Leu)
c.3655A>C (p.Met1219Leu)
c.3601A>C (p.Met1201Leu)
c.3001A>C (p.Met1001Leu)
c.3949A>C (p.Met1317Leu)
c.3946A>C (p.Met1316Leu)
c.3865A>C (p.Met1289Leu)
c.3796A>C (p.Met1266Leu)
c.3664A>C (p.Met1222Leu)
c.3532A>C (p.Met1178Leu)
20g.32436397A>GCA408563577ASXL1c.3685A>G (p.Met1229Val)
c.3502A>G (p.Met1168Val)
n.6038A>G
c.1869+1816A>G (n.1869+1816A>G)
c.3670A>G (p.Met1224Val)
c.3682A>G (p.Met1228Val)
c.3655A>G (p.Met1219Val)
c.3601A>G (p.Met1201Val)
c.3001A>G (p.Met1001Val)
c.3949A>G (p.Met1317Val)
c.3946A>G (p.Met1316Val)
c.3865A>G (p.Met1289Val)
c.3796A>G (p.Met1266Val)
c.3664A>G (p.Met1222Val)
c.3532A>G (p.Met1178Val)
 dbSNP gnomAD v4
20g.32436397A>TCA408563578ASXL1c.3685A>T (p.Met1229Leu)
c.3502A>T (p.Met1168Leu)
n.6038A>T
c.1869+1816A>T (n.1869+1816A>T)
c.3670A>T (p.Met1224Leu)
c.3682A>T (p.Met1228Leu)
c.3655A>T (p.Met1219Leu)
c.3601A>T (p.Met1201Leu)
c.3001A>T (p.Met1001Leu)
c.3949A>T (p.Met1317Leu)
c.3946A>T (p.Met1316Leu)
c.3865A>T (p.Met1289Leu)
c.3796A>T (p.Met1266Leu)
c.3664A>T (p.Met1222Leu)
c.3532A>T (p.Met1178Leu)
20g.32436398T>ACA408563579ASXL1c.3686T>A (p.Met1229Lys)
c.3503T>A (p.Met1168Lys)
n.6039T>A
c.1869+1817T>A (n.1869+1817T>A)
c.3671T>A (p.Met1224Lys)
c.3683T>A (p.Met1228Lys)
c.3656T>A (p.Met1219Lys)
c.3602T>A (p.Met1201Lys)
c.3002T>A (p.Met1001Lys)
c.3950T>A (p.Met1317Lys)
c.3947T>A (p.Met1316Lys)
c.3866T>A (p.Met1289Lys)
c.3797T>A (p.Met1266Lys)
c.3665T>A (p.Met1222Lys)
c.3533T>A (p.Met1178Lys)
20g.32436398T>CCA408563580ASXL1c.3686T>C (p.Met1229Thr)
c.3503T>C (p.Met1168Thr)
n.6039T>C
c.1869+1817T>C (n.1869+1817T>C)
c.3671T>C (p.Met1224Thr)
c.3683T>C (p.Met1228Thr)
c.3656T>C (p.Met1219Thr)
c.3602T>C (p.Met1201Thr)
c.3002T>C (p.Met1001Thr)
c.3950T>C (p.Met1317Thr)
c.3947T>C (p.Met1316Thr)
c.3866T>C (p.Met1289Thr)
c.3797T>C (p.Met1266Thr)
c.3665T>C (p.Met1222Thr)
c.3533T>C (p.Met1178Thr)
 gnomAD v4
20g.32436398T>GCA408563581ASXL1c.3686T>G (p.Met1229Arg)
c.3503T>G (p.Met1168Arg)
n.6039T>G
c.1869+1817T>G (n.1869+1817T>G)
c.3671T>G (p.Met1224Arg)
c.3683T>G (p.Met1228Arg)
c.3656T>G (p.Met1219Arg)
c.3602T>G (p.Met1201Arg)
c.3002T>G (p.Met1001Arg)
c.3950T>G (p.Met1317Arg)
c.3947T>G (p.Met1316Arg)
c.3866T>G (p.Met1289Arg)
c.3797T>G (p.Met1266Arg)
c.3665T>G (p.Met1222Arg)
c.3533T>G (p.Met1178Arg)
20g.32436399G>ACA408563584ASXL1c.3687G>A (p.Met1229Ile)
c.3504G>A (p.Met1168Ile)
n.6040G>A
c.1869+1818G>A (n.1869+1818G>A)
c.3672G>A (p.Met1224Ile)
c.3684G>A (p.Met1228Ile)
c.3657G>A (p.Met1219Ile)
c.3603G>A (p.Met1201Ile)
c.3003G>A (p.Met1001Ile)
c.3951G>A (p.Met1317Ile)
c.3948G>A (p.Met1316Ile)
c.3867G>A (p.Met1289Ile)
c.3798G>A (p.Met1266Ile)
c.3666G>A (p.Met1222Ile)
c.3534G>A (p.Met1178Ile)
 dbSNP
20g.32436399G>CCA408563583ASXL1c.3687G>C (p.Met1229Ile)
c.3504G>C (p.Met1168Ile)
n.6040G>C
c.1869+1818G>C (n.1869+1818G>C)
c.3672G>C (p.Met1224Ile)
c.3684G>C (p.Met1228Ile)
c.3657G>C (p.Met1219Ile)
c.3603G>C (p.Met1201Ile)
c.3003G>C (p.Met1001Ile)
c.3951G>C (p.Met1317Ile)
c.3948G>C (p.Met1316Ile)
c.3867G>C (p.Met1289Ile)
c.3798G>C (p.Met1266Ile)
c.3666G>C (p.Met1222Ile)
c.3534G>C (p.Met1178Ile)
20g.32436399G>TCA408563582ASXL1c.3687G>T (p.Met1229Ile)
c.3504G>T (p.Met1168Ile)
n.6040G>T
c.1869+1818G>T (n.1869+1818G>T)
c.3672G>T (p.Met1224Ile)
c.3684G>T (p.Met1228Ile)
c.3657G>T (p.Met1219Ile)
c.3603G>T (p.Met1201Ile)
c.3003G>T (p.Met1001Ile)
c.3951G>T (p.Met1317Ile)
c.3948G>T (p.Met1316Ile)
c.3867G>T (p.Met1289Ile)
c.3798G>T (p.Met1266Ile)
c.3666G>T (p.Met1222Ile)
c.3534G>T (p.Met1178Ile)
20g.32436400G>ACA313926355ASXL1c.3688G>A (p.Asp1230Asn)
c.3505G>A (p.Asp1169Asn)
n.6041G>A
c.1869+1819G>A (n.1869+1819G>A)
c.3673G>A (p.Asp1225Asn)
c.3685G>A (p.Asp1229Asn)
c.3658G>A (p.Asp1220Asn)
c.3604G>A (p.Asp1202Asn)
c.3004G>A (p.Asp1002Asn)
c.3952G>A (p.Asp1318Asn)
c.3949G>A (p.Asp1317Asn)
c.3868G>A (p.Asp1290Asn)
c.3799G>A (p.Asp1267Asn)
c.3667G>A (p.Asp1223Asn)
c.3535G>A (p.Asp1179Asn)
 dbSNP
20g.32436400G>CCA9808880ASXL1c.3688G>C (p.Asp1230His)
c.3505G>C (p.Asp1169His)
n.6041G>C
c.1869+1819G>C (n.1869+1819G>C)
c.3673G>C (p.Asp1225His)
c.3685G>C (p.Asp1229His)
c.3658G>C (p.Asp1220His)
c.3604G>C (p.Asp1202His)
c.3004G>C (p.Asp1002His)
c.3952G>C (p.Asp1318His)
c.3949G>C (p.Asp1317His)
c.3868G>C (p.Asp1290His)
c.3799G>C (p.Asp1267His)
c.3667G>C (p.Asp1223His)
c.3535G>C (p.Asp1179His)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.32436400G=CA2360293683ASXL1c.3688G= (p.Asp1230=)
c.3505G= (p.Asp1169=)
n.6041G=
c.1869+1819G= (n.1869+1819G=)
c.3673G= (p.Asp1225=)
c.3685G= (p.Asp1229=)
c.3658G= (p.Asp1220=)
c.3604G= (p.Asp1202=)
c.3004G= (p.Asp1002=)
c.3952G= (p.Asp1318=)
c.3949G= (p.Asp1317=)
c.3868G= (p.Asp1290=)
c.3799G= (p.Asp1267=)
c.3667G= (p.Asp1223=)
c.3535G= (p.Asp1179=)
20g.32436400G>TCA9808879ASXL1c.3688G>T (p.Asp1230Tyr)
c.3505G>T (p.Asp1169Tyr)
n.6041G>T
c.1869+1819G>T (n.1869+1819G>T)
c.3673G>T (p.Asp1225Tyr)
c.3685G>T (p.Asp1229Tyr)
c.3658G>T (p.Asp1220Tyr)
c.3604G>T (p.Asp1202Tyr)
c.3004G>T (p.Asp1002Tyr)
c.3952G>T (p.Asp1318Tyr)
c.3949G>T (p.Asp1317Tyr)
c.3868G>T (p.Asp1290Tyr)
c.3799G>T (p.Asp1267Tyr)
c.3667G>T (p.Asp1223Tyr)
c.3535G>T (p.Asp1179Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436401A>CCA408563585ASXL1c.3689A>C (p.Asp1230Ala)
c.3506A>C (p.Asp1169Ala)
n.6042A>C
c.1869+1820A>C (n.1869+1820A>C)
c.3674A>C (p.Asp1225Ala)
c.3686A>C (p.Asp1229Ala)
c.3659A>C (p.Asp1220Ala)
c.3605A>C (p.Asp1202Ala)
c.3005A>C (p.Asp1002Ala)
c.3953A>C (p.Asp1318Ala)
c.3950A>C (p.Asp1317Ala)
c.3869A>C (p.Asp1290Ala)
c.3800A>C (p.Asp1267Ala)
c.3668A>C (p.Asp1223Ala)
c.3536A>C (p.Asp1179Ala)
20g.32436401A>GCA408563586ASXL1c.3689A>G (p.Asp1230Gly)
c.3506A>G (p.Asp1169Gly)
n.6042A>G
c.1869+1820A>G (n.1869+1820A>G)
c.3674A>G (p.Asp1225Gly)
c.3686A>G (p.Asp1229Gly)
c.3659A>G (p.Asp1220Gly)
c.3605A>G (p.Asp1202Gly)
c.3005A>G (p.Asp1002Gly)
c.3953A>G (p.Asp1318Gly)
c.3950A>G (p.Asp1317Gly)
c.3869A>G (p.Asp1290Gly)
c.3800A>G (p.Asp1267Gly)
c.3668A>G (p.Asp1223Gly)
c.3536A>G (p.Asp1179Gly)
20g.32436401A>TCA408563587ASXL1c.3689A>T (p.Asp1230Val)
c.3506A>T (p.Asp1169Val)
n.6042A>T
c.1869+1820A>T (n.1869+1820A>T)
c.3674A>T (p.Asp1225Val)
c.3686A>T (p.Asp1229Val)
c.3659A>T (p.Asp1220Val)
c.3605A>T (p.Asp1202Val)
c.3005A>T (p.Asp1002Val)
c.3953A>T (p.Asp1318Val)
c.3950A>T (p.Asp1317Val)
c.3869A>T (p.Asp1290Val)
c.3800A>T (p.Asp1267Val)
c.3668A>T (p.Asp1223Val)
c.3536A>T (p.Asp1179Val)
20g.32436402T>ACA408563588ASXL1c.3690T>A (p.Asp1230Glu)
c.3507T>A (p.Asp1169Glu)
n.6043T>A
c.1869+1821T>A (n.1869+1821T>A)
c.3675T>A (p.Asp1225Glu)
c.3687T>A (p.Asp1229Glu)
c.3660T>A (p.Asp1220Glu)
c.3606T>A (p.Asp1202Glu)
c.3006T>A (p.Asp1002Glu)
c.3954T>A (p.Asp1318Glu)
c.3951T>A (p.Asp1317Glu)
c.3870T>A (p.Asp1290Glu)
c.3801T>A (p.Asp1267Glu)
c.3669T>A (p.Asp1223Glu)
c.3537T>A (p.Asp1179Glu)
20g.32436402T>CCA510467558ASXL1c.3690T>C (p.Asp1230=)
c.3507T>C (p.Asp1169=)
n.6043T>C
c.1869+1821T>C (n.1869+1821T>C)
c.3675T>C (p.Asp1225=)
c.3687T>C (p.Asp1229=)
c.3660T>C (p.Asp1220=)
c.3606T>C (p.Asp1202=)
c.3006T>C (p.Asp1002=)
c.3954T>C (p.Asp1318=)
c.3951T>C (p.Asp1317=)
c.3870T>C (p.Asp1290=)
c.3801T>C (p.Asp1267=)
c.3669T>C (p.Asp1223=)
c.3537T>C (p.Asp1179=)
20g.32436402T>GCA408563589ASXL1c.3690T>G (p.Asp1230Glu)
c.3507T>G (p.Asp1169Glu)
n.6043T>G
c.1869+1821T>G (n.1869+1821T>G)
c.3675T>G (p.Asp1225Glu)
c.3687T>G (p.Asp1229Glu)
c.3660T>G (p.Asp1220Glu)
c.3606T>G (p.Asp1202Glu)
c.3006T>G (p.Asp1002Glu)
c.3954T>G (p.Asp1318Glu)
c.3951T>G (p.Asp1317Glu)
c.3870T>G (p.Asp1290Glu)
c.3801T>G (p.Asp1267Glu)
c.3669T>G (p.Asp1223Glu)
c.3537T>G (p.Asp1179Glu)
20g.32436403T>ACA408563590ASXL1c.3691T>A (p.Ser1231Thr)
c.3508T>A (p.Ser1170Thr)
n.6044T>A
c.1869+1822T>A (n.1869+1822T>A)
c.3676T>A (p.Ser1226Thr)
c.3688T>A (p.Ser1230Thr)
c.3661T>A (p.Ser1221Thr)
c.3607T>A (p.Ser1203Thr)
c.3007T>A (p.Ser1003Thr)
c.3955T>A (p.Ser1319Thr)
c.3952T>A (p.Ser1318Thr)
c.3871T>A (p.Ser1291Thr)
c.3802T>A (p.Ser1268Thr)
c.3670T>A (p.Ser1224Thr)
c.3538T>A (p.Ser1180Thr)
20g.32436403T>CCA408563591ASXL1c.3691T>C (p.Ser1231Pro)
c.3508T>C (p.Ser1170Pro)
n.6044T>C
c.1869+1822T>C (n.1869+1822T>C)
c.3676T>C (p.Ser1226Pro)
c.3688T>C (p.Ser1230Pro)
c.3661T>C (p.Ser1221Pro)
c.3607T>C (p.Ser1203Pro)
c.3007T>C (p.Ser1003Pro)
c.3955T>C (p.Ser1319Pro)
c.3952T>C (p.Ser1318Pro)
c.3871T>C (p.Ser1291Pro)
c.3802T>C (p.Ser1268Pro)
c.3670T>C (p.Ser1224Pro)
c.3538T>C (p.Ser1180Pro)
20g.32436403T>GCA408563592ASXL1c.3691T>G (p.Ser1231Ala)
c.3508T>G (p.Ser1170Ala)
n.6044T>G
c.1869+1822T>G (n.1869+1822T>G)
c.3676T>G (p.Ser1226Ala)
c.3688T>G (p.Ser1230Ala)
c.3661T>G (p.Ser1221Ala)
c.3607T>G (p.Ser1203Ala)
c.3007T>G (p.Ser1003Ala)
c.3955T>G (p.Ser1319Ala)
c.3952T>G (p.Ser1318Ala)
c.3871T>G (p.Ser1291Ala)
c.3802T>G (p.Ser1268Ala)
c.3670T>G (p.Ser1224Ala)
c.3538T>G (p.Ser1180Ala)
20g.32436404C>ACA408563594ASXL1c.3692C>A (p.Ser1231Tyr)
c.3509C>A (p.Ser1170Tyr)
n.6045C>A
c.1869+1823C>A (n.1869+1823C>A)
c.3677C>A (p.Ser1226Tyr)
c.3689C>A (p.Ser1230Tyr)
c.3662C>A (p.Ser1221Tyr)
c.3608C>A (p.Ser1203Tyr)
c.3008C>A (p.Ser1003Tyr)
c.3956C>A (p.Ser1319Tyr)
c.3953C>A (p.Ser1318Tyr)
c.3872C>A (p.Ser1291Tyr)
c.3803C>A (p.Ser1268Tyr)
c.3671C>A (p.Ser1224Tyr)
c.3539C>A (p.Ser1180Tyr)
 dbSNP
20g.32436404C=CA2360293684ASXL1c.3692C= (p.Ser1231=)
c.3509C= (p.Ser1170=)
n.6045C=
c.1869+1823C= (n.1869+1823C=)
c.3677C= (p.Ser1226=)
c.3689C= (p.Ser1230=)
c.3662C= (p.Ser1221=)
c.3608C= (p.Ser1203=)
c.3008C= (p.Ser1003=)
c.3956C= (p.Ser1319=)
c.3953C= (p.Ser1318=)
c.3872C= (p.Ser1291=)
c.3803C= (p.Ser1268=)
c.3671C= (p.Ser1224=)
c.3539C= (p.Ser1180=)
20g.32436404C>GCA408563593ASXL1c.3692C>G (p.Ser1231Cys)
c.3509C>G (p.Ser1170Cys)
n.6045C>G
c.1869+1823C>G (n.1869+1823C>G)
c.3677C>G (p.Ser1226Cys)
c.3689C>G (p.Ser1230Cys)
c.3662C>G (p.Ser1221Cys)
c.3608C>G (p.Ser1203Cys)
c.3008C>G (p.Ser1003Cys)
c.3956C>G (p.Ser1319Cys)
c.3953C>G (p.Ser1318Cys)
c.3872C>G (p.Ser1291Cys)
c.3803C>G (p.Ser1268Cys)
c.3671C>G (p.Ser1224Cys)
c.3539C>G (p.Ser1180Cys)
20g.32436404C>TCA157011ASXL1c.3692C>T (p.Ser1231Phe)
c.3509C>T (p.Ser1170Phe)
n.6045C>T
c.1869+1823C>T (n.1869+1823C>T)
c.3677C>T (p.Ser1226Phe)
c.3689C>T (p.Ser1230Phe)
c.3662C>T (p.Ser1221Phe)
c.3608C>T (p.Ser1203Phe)
c.3008C>T (p.Ser1003Phe)
c.3956C>T (p.Ser1319Phe)
c.3953C>T (p.Ser1318Phe)
c.3872C>T (p.Ser1291Phe)
c.3803C>T (p.Ser1268Phe)
c.3671C>T (p.Ser1224Phe)
c.3539C>T (p.Ser1180Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436405C>ACA510467562ASXL1c.3693C>A (p.Ser1231=)
c.3510C>A (p.Ser1170=)
n.6046C>A
c.1869+1824C>A (n.1869+1824C>A)
c.3678C>A (p.Ser1226=)
c.3690C>A (p.Ser1230=)
c.3663C>A (p.Ser1221=)
c.3609C>A (p.Ser1203=)
c.3009C>A (p.Ser1003=)
c.3957C>A (p.Ser1319=)
c.3954C>A (p.Ser1318=)
c.3873C>A (p.Ser1291=)
c.3804C>A (p.Ser1268=)
c.3672C>A (p.Ser1224=)
c.3540C>A (p.Ser1180=)
20g.32436405C>GCA510467563ASXL1c.3693C>G (p.Ser1231=)
c.3510C>G (p.Ser1170=)
n.6046C>G
c.1869+1824C>G (n.1869+1824C>G)
c.3678C>G (p.Ser1226=)
c.3690C>G (p.Ser1230=)
c.3663C>G (p.Ser1221=)
c.3609C>G (p.Ser1203=)
c.3009C>G (p.Ser1003=)
c.3957C>G (p.Ser1319=)
c.3954C>G (p.Ser1318=)
c.3873C>G (p.Ser1291=)
c.3804C>G (p.Ser1268=)
c.3672C>G (p.Ser1224=)
c.3540C>G (p.Ser1180=)
20g.32436405C>TCA510467564ASXL1c.3693C>T (p.Ser1231=)
c.3510C>T (p.Ser1170=)
n.6046C>T
c.1869+1824C>T (n.1869+1824C>T)
c.3678C>T (p.Ser1226=)
c.3690C>T (p.Ser1230=)
c.3663C>T (p.Ser1221=)
c.3609C>T (p.Ser1203=)
c.3009C>T (p.Ser1003=)
c.3957C>T (p.Ser1319=)
c.3954C>T (p.Ser1318=)
c.3873C>T (p.Ser1291=)
c.3804C>T (p.Ser1268=)
c.3672C>T (p.Ser1224=)
c.3540C>T (p.Ser1180=)
20g.32436406A=CA2360293685ASXL1c.3694A= (p.Lys1232=)
c.3511A= (p.Lys1171=)
n.6047A=
c.1869+1825A= (n.1869+1825A=)
c.3679A= (p.Lys1227=)
c.3691A= (p.Lys1231=)
c.3664A= (p.Lys1222=)
c.3610A= (p.Lys1204=)
c.3010A= (p.Lys1004=)
c.3958A= (p.Lys1320=)
c.3955A= (p.Lys1319=)
c.3874A= (p.Lys1292=)
c.3805A= (p.Lys1269=)
c.3673A= (p.Lys1225=)
c.3541A= (p.Lys1181=)
20g.32436406A>CCA408563595ASXL1c.3694A>C (p.Lys1232Gln)
c.3511A>C (p.Lys1171Gln)
n.6047A>C
c.1869+1825A>C (n.1869+1825A>C)
c.3679A>C (p.Lys1227Gln)
c.3691A>C (p.Lys1231Gln)
c.3664A>C (p.Lys1222Gln)
c.3610A>C (p.Lys1204Gln)
c.3010A>C (p.Lys1004Gln)
c.3958A>C (p.Lys1320Gln)
c.3955A>C (p.Lys1319Gln)
c.3874A>C (p.Lys1292Gln)
c.3805A>C (p.Lys1269Gln)
c.3673A>C (p.Lys1225Gln)
c.3541A>C (p.Lys1181Gln)
 dbSNP
20g.32436406A>GCA408563596ASXL1c.3694A>G (p.Lys1232Glu)
c.3511A>G (p.Lys1171Glu)
n.6047A>G
c.1869+1825A>G (n.1869+1825A>G)
c.3679A>G (p.Lys1227Glu)
c.3691A>G (p.Lys1231Glu)
c.3664A>G (p.Lys1222Glu)
c.3610A>G (p.Lys1204Glu)
c.3010A>G (p.Lys1004Glu)
c.3958A>G (p.Lys1320Glu)
c.3955A>G (p.Lys1319Glu)
c.3874A>G (p.Lys1292Glu)
c.3805A>G (p.Lys1269Glu)
c.3673A>G (p.Lys1225Glu)
c.3541A>G (p.Lys1181Glu)
20g.32436406A>TCA408563597ASXL1c.3694A>T (p.Lys1232Ter)
c.3511A>T (p.Lys1171Ter)
n.6047A>T
c.1869+1825A>T (n.1869+1825A>T)
c.3679A>T (p.Lys1227Ter)
c.3691A>T (p.Lys1231Ter)
c.3664A>T (p.Lys1222Ter)
c.3610A>T (p.Lys1204Ter)
c.3010A>T (p.Lys1004Ter)
c.3958A>T (p.Lys1320Ter)
c.3955A>T (p.Lys1319Ter)
c.3874A>T (p.Lys1292Ter)
c.3805A>T (p.Lys1269Ter)
c.3673A>T (p.Lys1225Ter)
c.3541A>T (p.Lys1181Ter)
20g.32436408delCA2842273174ASXL1c.3696del (p.Glu1233SerfsTer?)
c.3513del (p.Glu1172SerfsTer?)
n.6049del
c.1869+1827del (n.1869+1827del)
c.3681del (p.Glu1228SerfsTer?)
c.3693del (p.Glu1232SerfsTer?)
c.3666del (p.Glu1223SerfsTer?)
c.3612del (p.Glu1205SerfsTer?)
c.3012del (p.Glu1005SerfsTer?)
c.3960del (p.Glu1321SerfsTer?)
c.3957del (p.Glu1320SerfsTer?)
c.3876del (p.Glu1293SerfsTer?)
c.3807del (p.Glu1270SerfsTer?)
c.3675del (p.Glu1226SerfsTer?)
c.3543del (p.Glu1182SerfsTer?)
20g.32436407A>CCA408563598ASXL1c.3695A>C (p.Lys1232Thr)
c.3512A>C (p.Lys1171Thr)
n.6048A>C
c.1869+1826A>C (n.1869+1826A>C)
c.3680A>C (p.Lys1227Thr)
c.3692A>C (p.Lys1231Thr)
c.3665A>C (p.Lys1222Thr)
c.3611A>C (p.Lys1204Thr)
c.3011A>C (p.Lys1004Thr)
c.3959A>C (p.Lys1320Thr)
c.3956A>C (p.Lys1319Thr)
c.3875A>C (p.Lys1292Thr)
c.3806A>C (p.Lys1269Thr)
c.3674A>C (p.Lys1225Thr)
c.3542A>C (p.Lys1181Thr)
20g.32436407A>GCA408563599ASXL1c.3695A>G (p.Lys1232Arg)
c.3512A>G (p.Lys1171Arg)
n.6048A>G
c.1869+1826A>G (n.1869+1826A>G)
c.3680A>G (p.Lys1227Arg)
c.3692A>G (p.Lys1231Arg)
c.3665A>G (p.Lys1222Arg)
c.3611A>G (p.Lys1204Arg)
c.3011A>G (p.Lys1004Arg)
c.3959A>G (p.Lys1320Arg)
c.3956A>G (p.Lys1319Arg)
c.3875A>G (p.Lys1292Arg)
c.3806A>G (p.Lys1269Arg)
c.3674A>G (p.Lys1225Arg)
c.3542A>G (p.Lys1181Arg)
20g.32436407A>TCA408563600ASXL1c.3695A>T (p.Lys1232Ile)
c.3512A>T (p.Lys1171Ile)
n.6048A>T
c.1869+1826A>T (n.1869+1826A>T)
c.3680A>T (p.Lys1227Ile)
c.3692A>T (p.Lys1231Ile)
c.3665A>T (p.Lys1222Ile)
c.3611A>T (p.Lys1204Ile)
c.3011A>T (p.Lys1004Ile)
c.3959A>T (p.Lys1320Ile)
c.3956A>T (p.Lys1319Ile)
c.3875A>T (p.Lys1292Ile)
c.3806A>T (p.Lys1269Ile)
c.3674A>T (p.Lys1225Ile)
c.3542A>T (p.Lys1181Ile)
20g.32436408A>CCA408563602ASXL1c.3696A>C (p.Lys1232Asn)
c.3513A>C (p.Lys1171Asn)
n.6049A>C
c.1869+1827A>C (n.1869+1827A>C)
c.3681A>C (p.Lys1227Asn)
c.3693A>C (p.Lys1231Asn)
c.3666A>C (p.Lys1222Asn)
c.3612A>C (p.Lys1204Asn)
c.3012A>C (p.Lys1004Asn)
c.3960A>C (p.Lys1320Asn)
c.3957A>C (p.Lys1319Asn)
c.3876A>C (p.Lys1292Asn)
c.3807A>C (p.Lys1269Asn)
c.3675A>C (p.Lys1225Asn)
c.3543A>C (p.Lys1181Asn)
20g.32436408A>GCA510467566ASXL1c.3696A>G (p.Lys1232=)
c.3513A>G (p.Lys1171=)
n.6049A>G
c.1869+1827A>G (n.1869+1827A>G)
c.3681A>G (p.Lys1227=)
c.3693A>G (p.Lys1231=)
c.3666A>G (p.Lys1222=)
c.3612A>G (p.Lys1204=)
c.3012A>G (p.Lys1004=)
c.3960A>G (p.Lys1320=)
c.3957A>G (p.Lys1319=)
c.3876A>G (p.Lys1292=)
c.3807A>G (p.Lys1269=)
c.3675A>G (p.Lys1225=)
c.3543A>G (p.Lys1181=)
20g.32436408A>TCA408563601ASXL1c.3696A>T (p.Lys1232Asn)
c.3513A>T (p.Lys1171Asn)
n.6049A>T
c.1869+1827A>T (n.1869+1827A>T)
c.3681A>T (p.Lys1227Asn)
c.3693A>T (p.Lys1231Asn)
c.3666A>T (p.Lys1222Asn)
c.3612A>T (p.Lys1204Asn)
c.3012A>T (p.Lys1004Asn)
c.3960A>T (p.Lys1320Asn)
c.3957A>T (p.Lys1319Asn)
c.3876A>T (p.Lys1292Asn)
c.3807A>T (p.Lys1269Asn)
c.3675A>T (p.Lys1225Asn)
c.3543A>T (p.Lys1181Asn)
 COSMIC COSMIC
20g.32436410_32436414delCA2577366320ASXL1c.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)
20g.32436409G>ACA408563603ASXL1c.3697G>A (p.Glu1233Lys)
c.3514G>A (p.Glu1172Lys)
n.6050G>A
c.1869+1828G>A (n.1869+1828G>A)
c.3682G>A (p.Glu1228Lys)
c.3694G>A (p.Glu1232Lys)
c.3667G>A (p.Glu1223Lys)
c.3613G>A (p.Glu1205Lys)
c.3013G>A (p.Glu1005Lys)
c.3961G>A (p.Glu1321Lys)
c.3958G>A (p.Glu1320Lys)
c.3877G>A (p.Glu1293Lys)
c.3808G>A (p.Glu1270Lys)
c.3676G>A (p.Glu1226Lys)
c.3544G>A (p.Glu1182Lys)
20g.32436409G>CCA408563604ASXL1c.3697G>C (p.Glu1233Gln)
c.3514G>C (p.Glu1172Gln)
n.6050G>C
c.1869+1828G>C (n.1869+1828G>C)
c.3682G>C (p.Glu1228Gln)
c.3694G>C (p.Glu1232Gln)
c.3667G>C (p.Glu1223Gln)
c.3613G>C (p.Glu1205Gln)
c.3013G>C (p.Glu1005Gln)
c.3961G>C (p.Glu1321Gln)
c.3958G>C (p.Glu1320Gln)
c.3877G>C (p.Glu1293Gln)
c.3808G>C (p.Glu1270Gln)
c.3676G>C (p.Glu1226Gln)
c.3544G>C (p.Glu1182Gln)
20g.32436409G>TCA408563605ASXL1c.3697G>T (p.Glu1233Ter)
c.3514G>T (p.Glu1172Ter)
n.6050G>T
c.1869+1828G>T (n.1869+1828G>T)
c.3682G>T (p.Glu1228Ter)
c.3694G>T (p.Glu1232Ter)
c.3667G>T (p.Glu1223Ter)
c.3613G>T (p.Glu1205Ter)
c.3013G>T (p.Glu1005Ter)
c.3961G>T (p.Glu1321Ter)
c.3958G>T (p.Glu1320Ter)
c.3877G>T (p.Glu1293Ter)
c.3808G>T (p.Glu1270Ter)
c.3676G>T (p.Glu1226Ter)
c.3544G>T (p.Glu1182Ter)
20g.32436410A=CA2360293686ASXL1c.3698A= (p.Glu1233=)
c.3515A= (p.Glu1172=)
n.6051A=
c.1869+1829A= (n.1869+1829A=)
c.3683A= (p.Glu1228=)
c.3695A= (p.Glu1232=)
c.3668A= (p.Glu1223=)
c.3614A= (p.Glu1205=)
c.3014A= (p.Glu1005=)
c.3962A= (p.Glu1321=)
c.3959A= (p.Glu1320=)
c.3878A= (p.Glu1293=)
c.3809A= (p.Glu1270=)
c.3677A= (p.Glu1226=)
c.3545A= (p.Glu1182=)
20g.32436410A>CCA408563606ASXL1c.3698A>C (p.Glu1233Ala)
c.3515A>C (p.Glu1172Ala)
n.6051A>C
c.1869+1829A>C (n.1869+1829A>C)
c.3683A>C (p.Glu1228Ala)
c.3695A>C (p.Glu1232Ala)
c.3668A>C (p.Glu1223Ala)
c.3614A>C (p.Glu1205Ala)
c.3014A>C (p.Glu1005Ala)
c.3962A>C (p.Glu1321Ala)
c.3959A>C (p.Glu1320Ala)
c.3878A>C (p.Glu1293Ala)
c.3809A>C (p.Glu1270Ala)
c.3677A>C (p.Glu1226Ala)
c.3545A>C (p.Glu1182Ala)
20g.32436410A>GCA408563607ASXL1c.3698A>G (p.Glu1233Gly)
c.3515A>G (p.Glu1172Gly)
n.6051A>G
c.1869+1829A>G (n.1869+1829A>G)
c.3683A>G (p.Glu1228Gly)
c.3695A>G (p.Glu1232Gly)
c.3668A>G (p.Glu1223Gly)
c.3614A>G (p.Glu1205Gly)
c.3014A>G (p.Glu1005Gly)
c.3962A>G (p.Glu1321Gly)
c.3959A>G (p.Glu1320Gly)
c.3878A>G (p.Glu1293Gly)
c.3809A>G (p.Glu1270Gly)
c.3677A>G (p.Glu1226Gly)
c.3545A>G (p.Glu1182Gly)
 dbSNP gnomAD v2 gnomAD v4
20g.32436410A>TCA408563608ASXL1c.3698A>T (p.Glu1233Val)
c.3515A>T (p.Glu1172Val)
n.6051A>T
c.1869+1829A>T (n.1869+1829A>T)
c.3683A>T (p.Glu1228Val)
c.3695A>T (p.Glu1232Val)
c.3668A>T (p.Glu1223Val)
c.3614A>T (p.Glu1205Val)
c.3014A>T (p.Glu1005Val)
c.3962A>T (p.Glu1321Val)
c.3959A>T (p.Glu1320Val)
c.3878A>T (p.Glu1293Val)
c.3809A>T (p.Glu1270Val)
c.3677A>T (p.Glu1226Val)
c.3545A>T (p.Glu1182Val)
20g.32436411G>ACA9808881ASXL1c.3699G>A (p.Glu1233=)
c.3516G>A (p.Glu1172=)
n.6052G>A
c.1869+1830G>A (n.1869+1830G>A)
c.3684G>A (p.Glu1228=)
c.3696G>A (p.Glu1232=)
c.3669G>A (p.Glu1223=)
c.3615G>A (p.Glu1205=)
c.3015G>A (p.Glu1005=)
c.3963G>A (p.Glu1321=)
c.3960G>A (p.Glu1320=)
c.3879G>A (p.Glu1293=)
c.3810G>A (p.Glu1270=)
c.3678G>A (p.Glu1226=)
c.3546G>A (p.Glu1182=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.32436411G>CCA408563610ASXL1c.3699G>C (p.Glu1233Asp)
c.3516G>C (p.Glu1172Asp)
n.6052G>C
c.1869+1830G>C (n.1869+1830G>C)
c.3684G>C (p.Glu1228Asp)
c.3696G>C (p.Glu1232Asp)
c.3669G>C (p.Glu1223Asp)
c.3615G>C (p.Glu1205Asp)
c.3015G>C (p.Glu1005Asp)
c.3963G>C (p.Glu1321Asp)
c.3960G>C (p.Glu1320Asp)
c.3879G>C (p.Glu1293Asp)
c.3810G>C (p.Glu1270Asp)
c.3678G>C (p.Glu1226Asp)
c.3546G>C (p.Glu1182Asp)
20g.32436411G=CA2360293687ASXL1c.3699G= (p.Glu1233=)
c.3516G= (p.Glu1172=)
n.6052G=
c.1869+1830G= (n.1869+1830G=)
c.3684G= (p.Glu1228=)
c.3696G= (p.Glu1232=)
c.3669G= (p.Glu1223=)
c.3615G= (p.Glu1205=)
c.3015G= (p.Glu1005=)
c.3963G= (p.Glu1321=)
c.3960G= (p.Glu1320=)
c.3879G= (p.Glu1293=)
c.3810G= (p.Glu1270=)
c.3678G= (p.Glu1226=)
c.3546G= (p.Glu1182=)
20g.32436411G>TCA408563609ASXL1c.3699G>T (p.Glu1233Asp)
c.3516G>T (p.Glu1172Asp)
n.6052G>T
c.1869+1830G>T (n.1869+1830G>T)
c.3684G>T (p.Glu1228Asp)
c.3696G>T (p.Glu1232Asp)
c.3669G>T (p.Glu1223Asp)
c.3615G>T (p.Glu1205Asp)
c.3015G>T (p.Glu1005Asp)
c.3963G>T (p.Glu1321Asp)
c.3960G>T (p.Glu1320Asp)
c.3879G>T (p.Glu1293Asp)
c.3810G>T (p.Glu1270Asp)
c.3678G>T (p.Glu1226Asp)
c.3546G>T (p.Glu1182Asp)
 gnomAD v4
20g.32436412C>ACA408563611ASXL1c.3700C>A (p.Gln1234Lys)
c.3517C>A (p.Gln1173Lys)
n.6053C>A
c.1869+1831C>A (n.1869+1831C>A)
c.3685C>A (p.Gln1229Lys)
c.3697C>A (p.Gln1233Lys)
c.3670C>A (p.Gln1224Lys)
c.3616C>A (p.Gln1206Lys)
c.3016C>A (p.Gln1006Lys)
c.3964C>A (p.Gln1322Lys)
c.3961C>A (p.Gln1321Lys)
c.3880C>A (p.Gln1294Lys)
c.3811C>A (p.Gln1271Lys)
c.3679C>A (p.Gln1227Lys)
c.3547C>A (p.Gln1183Lys)
 dbSNP
20g.32436412C=CA2360293688ASXL1c.3700C= (p.Gln1234=)
c.3517C= (p.Gln1173=)
n.6053C=
c.1869+1831C= (n.1869+1831C=)
c.3685C= (p.Gln1229=)
c.3697C= (p.Gln1233=)
c.3670C= (p.Gln1224=)
c.3616C= (p.Gln1206=)
c.3016C= (p.Gln1006=)
c.3964C= (p.Gln1322=)
c.3961C= (p.Gln1321=)
c.3880C= (p.Gln1294=)
c.3811C= (p.Gln1271=)
c.3679C= (p.Gln1227=)
c.3547C= (p.Gln1183=)
20g.32436412C>GCA408563612ASXL1c.3700C>G (p.Gln1234Glu)
c.3517C>G (p.Gln1173Glu)
n.6053C>G
c.1869+1831C>G (n.1869+1831C>G)
c.3685C>G (p.Gln1229Glu)
c.3697C>G (p.Gln1233Glu)
c.3670C>G (p.Gln1224Glu)
c.3616C>G (p.Gln1206Glu)
c.3016C>G (p.Gln1006Glu)
c.3964C>G (p.Gln1322Glu)
c.3961C>G (p.Gln1321Glu)
c.3880C>G (p.Gln1294Glu)
c.3811C>G (p.Gln1271Glu)
c.3679C>G (p.Gln1227Glu)
c.3547C>G (p.Gln1183Glu)
20g.32436412C>TCA408563613ASXL1c.3700C>T (p.Gln1234Ter)
c.3517C>T (p.Gln1173Ter)
n.6053C>T
c.1869+1831C>T (n.1869+1831C>T)
c.3685C>T (p.Gln1229Ter)
c.3697C>T (p.Gln1233Ter)
c.3670C>T (p.Gln1224Ter)
c.3616C>T (p.Gln1206Ter)
c.3016C>T (p.Gln1006Ter)
c.3964C>T (p.Gln1322Ter)
c.3961C>T (p.Gln1321Ter)
c.3880C>T (p.Gln1294Ter)
c.3811C>T (p.Gln1271Ter)
c.3679C>T (p.Gln1227Ter)
c.3547C>T (p.Gln1183Ter)
 ClinVar dbSNP
20g.32436413A>CCA408563614ASXL1c.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)
20g.32436413A>GCA408563615ASXL1c.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
20g.32436413A>TCA408563616ASXL1c.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)
20g.32436414G>ACA510467571ASXL1c.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
20g.32436414G>CCA408563617ASXL1c.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)
20g.32436414G=CA2360293689ASXL1c.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=)
20g.32436414G>TCA408563618ASXL1c.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)
20g.32436415T>ACA408563619ASXL1c.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)
20g.32436415T>CCA408563620ASXL1c.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)
20g.32436415T>GCA408563621ASXL1c.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
20g.32436415T=CA2360293690ASXL1c.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=)
20g.32436416T>ACA408563623ASXL1c.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)
20g.32436416T>CCA408563624ASXL1c.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)
20g.32436416T>GCA408563622ASXL1c.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)
20g.32436417C>ACA408563626ASXL1c.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)
20g.32436417C>GCA408563625ASXL1c.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)
20g.32436417C>TCA510467575ASXL1c.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
20g.32436418T>ACA408563628ASXL1c.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)
20g.32436418T>CCA408563627ASXL1c.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)
20g.32436418T>GCA9808882ASXL1c.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
20g.32436418T=CA2360293691ASXL1c.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=)
20g.32436419C>ACA408563629ASXL1c.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)
20g.32436419C>GCA408563630ASXL1c.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
20g.32436419C>TCA408563631ASXL1c.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
20g.32436420T>ACA510467580ASXL1c.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
20g.32436420T>CCA510467577ASXL1c.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=)
20g.32436420T>GCA510467578ASXL1c.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=)
20g.32436421T>ACA408563634ASXL1c.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)
20g.32436421T>CCA408563633ASXL1c.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
20g.32436421T>GCA408563632ASXL1c.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)
20g.32436421T=CA2360293692ASXL1c.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=)
20g.32436422C>ACA408563635ASXL1c.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)
20g.32436422C=CA2360293693ASXL1c.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=)
20g.32436422C>GCA408563636ASXL1c.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)
20g.32436422C>TCA9808883ASXL1c.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
20g.32436423delCA2652401238ASXL1c.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
20g.32436423C>ACA510467582ASXL1c.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=)
20g.32436423C=CA2360293694ASXL1c.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=)
20g.32436423C>GCA510467583ASXL1c.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
20g.32436423C>TCA510467584ASXL1c.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
20g.32436424T>ACA408563637ASXL1c.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)
20g.32436424T>CCA408563638ASXL1c.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)
20g.32436424T>GCA408563639ASXL1c.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)
20g.32436426delCA2842273175ASXL1c.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?)
20g.32436425T>ACA408563640ASXL1c.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)
20g.32436425T>CCA408563641ASXL1c.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)
20g.32436425T>GCA9808884ASXL1c.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
20g.32436425T=CA2360293695ASXL1c.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=)
20g.32436426T>ACA408563642ASXL1c.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)
20g.32436426T>CCA510467588ASXL1c.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
20g.32436426T>GCA408563643ASXL1c.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)
20g.32436426T=CA2360293696ASXL1c.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=)
20g.32436427A>CCA408563644ASXL1c.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)
20g.32436427A>GCA408563645ASXL1c.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)
20g.32436427A>TCA408563646ASXL1c.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)
20g.32436428G>ACA408563647ASXL1c.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)
20g.32436428G>CCA408563648ASXL1c.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)
20g.32436428G>TCA408563649ASXL1c.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)
20g.32436429T>ACA408563650ASXL1c.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)
20g.32436429T>CCA510467592ASXL1c.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
20g.32436429T>GCA408563651ASXL1c.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)
20g.32436430T>ACA408563653ASXL1c.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)
20g.32436430T>CCA9808885ASXL1c.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
20g.32436430T>GCA408563652ASXL1c.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)
20g.32436430T=CA2360293697ASXL1c.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=)

Number of alleles fetched