Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.32436281_32436343dup | CA635268547 | ASXL1 | c.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 |
20 | g.32436298G>A | CA408563370 | ASXL1 | c.3586G>A (p.Ala1196Thr) c.3403G>A (p.Ala1135Thr) n.5939G>A c.1869+1717G>A (n.1869+1717G>A) c.3571G>A (p.Ala1191Thr) c.3583G>A (p.Ala1195Thr) c.3556G>A (p.Ala1186Thr) c.3502G>A (p.Ala1168Thr) c.2902G>A (p.Ala968Thr) c.3850G>A (p.Ala1284Thr) c.3847G>A (p.Ala1283Thr) c.3766G>A (p.Ala1256Thr) c.3697G>A (p.Ala1233Thr) c.3565G>A (p.Ala1189Thr) c.3433G>A (p.Ala1145Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436298G>C | CA408563371 | ASXL1 | c.3586G>C (p.Ala1196Pro) c.3403G>C (p.Ala1135Pro) n.5939G>C c.1869+1717G>C (n.1869+1717G>C) c.3571G>C (p.Ala1191Pro) c.3583G>C (p.Ala1195Pro) c.3556G>C (p.Ala1186Pro) c.3502G>C (p.Ala1168Pro) c.2902G>C (p.Ala968Pro) c.3850G>C (p.Ala1284Pro) c.3847G>C (p.Ala1283Pro) c.3766G>C (p.Ala1256Pro) c.3697G>C (p.Ala1233Pro) c.3565G>C (p.Ala1189Pro) c.3433G>C (p.Ala1145Pro) | dbSNP |
20 | g.32436298G= | CA2360293634 | ASXL1 | c.3586G= (p.Ala1196=) c.3403G= (p.Ala1135=) n.5939G= c.1869+1717G= (n.1869+1717G=) c.3571G= (p.Ala1191=) c.3583G= (p.Ala1195=) c.3556G= (p.Ala1186=) c.3502G= (p.Ala1168=) c.2902G= (p.Ala968=) c.3850G= (p.Ala1284=) c.3847G= (p.Ala1283=) c.3766G= (p.Ala1256=) c.3697G= (p.Ala1233=) c.3565G= (p.Ala1189=) c.3433G= (p.Ala1145=) | |
20 | g.32436298G>T | CA408563372 | ASXL1 | c.3586G>T (p.Ala1196Ser) c.3403G>T (p.Ala1135Ser) n.5939G>T c.1869+1717G>T (n.1869+1717G>T) c.3571G>T (p.Ala1191Ser) c.3583G>T (p.Ala1195Ser) c.3556G>T (p.Ala1186Ser) c.3502G>T (p.Ala1168Ser) c.2902G>T (p.Ala968Ser) c.3850G>T (p.Ala1284Ser) c.3847G>T (p.Ala1283Ser) c.3766G>T (p.Ala1256Ser) c.3697G>T (p.Ala1233Ser) c.3565G>T (p.Ala1189Ser) c.3433G>T (p.Ala1145Ser) | |
20 | g.32436299C>A | CA408563373 | ASXL1 | c.3587C>A (p.Ala1196Asp) c.3404C>A (p.Ala1135Asp) n.5940C>A c.1869+1718C>A (n.1869+1718C>A) c.3572C>A (p.Ala1191Asp) c.3584C>A (p.Ala1195Asp) c.3557C>A (p.Ala1186Asp) c.3503C>A (p.Ala1168Asp) c.2903C>A (p.Ala968Asp) c.3851C>A (p.Ala1284Asp) c.3848C>A (p.Ala1283Asp) c.3767C>A (p.Ala1256Asp) c.3698C>A (p.Ala1233Asp) c.3566C>A (p.Ala1189Asp) c.3434C>A (p.Ala1145Asp) | dbSNP |
20 | g.32436299C= | CA2360293635 | ASXL1 | c.3587C= (p.Ala1196=) c.3404C= (p.Ala1135=) n.5940C= c.1869+1718C= (n.1869+1718C=) c.3572C= (p.Ala1191=) c.3584C= (p.Ala1195=) c.3557C= (p.Ala1186=) c.3503C= (p.Ala1168=) c.2903C= (p.Ala968=) c.3851C= (p.Ala1284=) c.3848C= (p.Ala1283=) c.3767C= (p.Ala1256=) c.3698C= (p.Ala1233=) c.3566C= (p.Ala1189=) c.3434C= (p.Ala1145=) | |
20 | g.32436299C>G | CA408563374 | ASXL1 | c.3587C>G (p.Ala1196Gly) c.3404C>G (p.Ala1135Gly) n.5940C>G c.1869+1718C>G (n.1869+1718C>G) c.3572C>G (p.Ala1191Gly) c.3584C>G (p.Ala1195Gly) c.3557C>G (p.Ala1186Gly) c.3503C>G (p.Ala1168Gly) c.2903C>G (p.Ala968Gly) c.3851C>G (p.Ala1284Gly) c.3848C>G (p.Ala1283Gly) c.3767C>G (p.Ala1256Gly) c.3698C>G (p.Ala1233Gly) c.3566C>G (p.Ala1189Gly) c.3434C>G (p.Ala1145Gly) | |
20 | g.32436299C>T | CA9808858 | ASXL1 | c.3587C>T (p.Ala1196Val) c.3404C>T (p.Ala1135Val) n.5940C>T c.1869+1718C>T (n.1869+1718C>T) c.3572C>T (p.Ala1191Val) c.3584C>T (p.Ala1195Val) c.3557C>T (p.Ala1186Val) c.3503C>T (p.Ala1168Val) c.2903C>T (p.Ala968Val) c.3851C>T (p.Ala1284Val) c.3848C>T (p.Ala1283Val) c.3767C>T (p.Ala1256Val) c.3698C>T (p.Ala1233Val) c.3566C>T (p.Ala1189Val) c.3434C>T (p.Ala1145Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.32436300T>A | CA510467341 | ASXL1 | c.3588T>A (p.Ala1196=) c.3405T>A (p.Ala1135=) n.5941T>A c.1869+1719T>A (n.1869+1719T>A) c.3573T>A (p.Ala1191=) c.3585T>A (p.Ala1195=) c.3558T>A (p.Ala1186=) c.3504T>A (p.Ala1168=) c.2904T>A (p.Ala968=) c.3852T>A (p.Ala1284=) c.3849T>A (p.Ala1283=) c.3768T>A (p.Ala1256=) c.3699T>A (p.Ala1233=) c.3567T>A (p.Ala1189=) c.3435T>A (p.Ala1145=) | |
20 | g.32436300T>C | CA510467342 | ASXL1 | c.3588T>C (p.Ala1196=) c.3405T>C (p.Ala1135=) n.5941T>C c.1869+1719T>C (n.1869+1719T>C) c.3573T>C (p.Ala1191=) c.3585T>C (p.Ala1195=) c.3558T>C (p.Ala1186=) c.3504T>C (p.Ala1168=) c.2904T>C (p.Ala968=) c.3852T>C (p.Ala1284=) c.3849T>C (p.Ala1283=) c.3768T>C (p.Ala1256=) c.3699T>C (p.Ala1233=) c.3567T>C (p.Ala1189=) c.3435T>C (p.Ala1145=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436300T>G | CA510467343 | ASXL1 | c.3588T>G (p.Ala1196=) c.3405T>G (p.Ala1135=) n.5941T>G c.1869+1719T>G (n.1869+1719T>G) c.3573T>G (p.Ala1191=) c.3585T>G (p.Ala1195=) c.3558T>G (p.Ala1186=) c.3504T>G (p.Ala1168=) c.2904T>G (p.Ala968=) c.3852T>G (p.Ala1284=) c.3849T>G (p.Ala1283=) c.3768T>G (p.Ala1256=) c.3699T>G (p.Ala1233=) c.3567T>G (p.Ala1189=) c.3435T>G (p.Ala1145=) | |
20 | g.32436300T= | CA2360293636 | ASXL1 | c.3588T= (p.Ala1196=) c.3405T= (p.Ala1135=) n.5941T= c.1869+1719T= (n.1869+1719T=) c.3573T= (p.Ala1191=) c.3585T= (p.Ala1195=) c.3558T= (p.Ala1186=) c.3504T= (p.Ala1168=) c.2904T= (p.Ala968=) c.3852T= (p.Ala1284=) c.3849T= (p.Ala1283=) c.3768T= (p.Ala1256=) c.3699T= (p.Ala1233=) c.3567T= (p.Ala1189=) c.3435T= (p.Ala1145=) | |
20 | g.32436301C>A | CA408563375 | ASXL1 | c.3589C>A (p.Pro1197Thr) c.3406C>A (p.Pro1136Thr) n.5942C>A c.1869+1720C>A (n.1869+1720C>A) c.3574C>A (p.Pro1192Thr) c.3586C>A (p.Pro1196Thr) c.3559C>A (p.Pro1187Thr) c.3505C>A (p.Pro1169Thr) c.2905C>A (p.Pro969Thr) c.3853C>A (p.Pro1285Thr) c.3850C>A (p.Pro1284Thr) c.3769C>A (p.Pro1257Thr) c.3700C>A (p.Pro1234Thr) c.3568C>A (p.Pro1190Thr) c.3436C>A (p.Pro1146Thr) | |
20 | g.32436301C= | CA2360293637 | ASXL1 | c.3589C= (p.Pro1197=) c.3406C= (p.Pro1136=) n.5942C= c.1869+1720C= (n.1869+1720C=) c.3574C= (p.Pro1192=) c.3586C= (p.Pro1196=) c.3559C= (p.Pro1187=) c.3505C= (p.Pro1169=) c.2905C= (p.Pro969=) c.3853C= (p.Pro1285=) c.3850C= (p.Pro1284=) c.3769C= (p.Pro1257=) c.3700C= (p.Pro1234=) c.3568C= (p.Pro1190=) c.3436C= (p.Pro1146=) | |
20 | g.32436301C>G | CA408563376 | ASXL1 | c.3589C>G (p.Pro1197Ala) c.3406C>G (p.Pro1136Ala) n.5942C>G c.1869+1720C>G (n.1869+1720C>G) c.3574C>G (p.Pro1192Ala) c.3586C>G (p.Pro1196Ala) c.3559C>G (p.Pro1187Ala) c.3505C>G (p.Pro1169Ala) c.2905C>G (p.Pro969Ala) c.3853C>G (p.Pro1285Ala) c.3850C>G (p.Pro1284Ala) c.3769C>G (p.Pro1257Ala) c.3700C>G (p.Pro1234Ala) c.3568C>G (p.Pro1190Ala) c.3436C>G (p.Pro1146Ala) | |
20 | g.32436301C>T | CA9808859 | ASXL1 | c.3589C>T (p.Pro1197Ser) c.3406C>T (p.Pro1136Ser) n.5942C>T c.1869+1720C>T (n.1869+1720C>T) c.3574C>T (p.Pro1192Ser) c.3586C>T (p.Pro1196Ser) c.3559C>T (p.Pro1187Ser) c.3505C>T (p.Pro1169Ser) c.2905C>T (p.Pro969Ser) c.3853C>T (p.Pro1285Ser) c.3850C>T (p.Pro1284Ser) c.3769C>T (p.Pro1257Ser) c.3700C>T (p.Pro1234Ser) c.3568C>T (p.Pro1190Ser) c.3436C>T (p.Pro1146Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436302del | CA2652401230 | ASXL1 | c.3590del (p.Pro1197LeufsTer20) c.3407del (p.Pro1136LeufsTer20) n.5943del c.1869+1721del (n.1869+1721del) c.3575del (p.Pro1192LeufsTer20) c.3587del (p.Pro1196LeufsTer20) c.3560del (p.Pro1187LeufsTer20) c.3506del (p.Pro1169LeufsTer20) c.2906del (p.Pro969LeufsTer20) c.3854del (p.Pro1285LeufsTer20) c.3851del (p.Pro1284LeufsTer20) c.3770del (p.Pro1257LeufsTer20) c.3701del (p.Pro1234LeufsTer20) c.3569del (p.Pro1190LeufsTer20) c.3437del (p.Pro1146LeufsTer20) | gnomAD v4 |
20 | g.32436302C>A | CA408563377 | ASXL1 | c.3590C>A (p.Pro1197His) c.3407C>A (p.Pro1136His) n.5943C>A c.1869+1721C>A (n.1869+1721C>A) c.3575C>A (p.Pro1192His) c.3587C>A (p.Pro1196His) c.3560C>A (p.Pro1187His) c.3506C>A (p.Pro1169His) c.2906C>A (p.Pro969His) c.3854C>A (p.Pro1285His) c.3851C>A (p.Pro1284His) c.3770C>A (p.Pro1257His) c.3701C>A (p.Pro1234His) c.3569C>A (p.Pro1190His) c.3437C>A (p.Pro1146His) | |
20 | g.32436302C>G | CA408563378 | ASXL1 | c.3590C>G (p.Pro1197Arg) c.3407C>G (p.Pro1136Arg) n.5943C>G c.1869+1721C>G (n.1869+1721C>G) c.3575C>G (p.Pro1192Arg) c.3587C>G (p.Pro1196Arg) c.3560C>G (p.Pro1187Arg) c.3506C>G (p.Pro1169Arg) c.2906C>G (p.Pro969Arg) c.3854C>G (p.Pro1285Arg) c.3851C>G (p.Pro1284Arg) c.3770C>G (p.Pro1257Arg) c.3701C>G (p.Pro1234Arg) c.3569C>G (p.Pro1190Arg) c.3437C>G (p.Pro1146Arg) | dbSNP |
20 | g.32436302C>T | CA408563379 | ASXL1 | c.3590C>T (p.Pro1197Leu) c.3407C>T (p.Pro1136Leu) n.5943C>T c.1869+1721C>T (n.1869+1721C>T) c.3575C>T (p.Pro1192Leu) c.3587C>T (p.Pro1196Leu) c.3560C>T (p.Pro1187Leu) c.3506C>T (p.Pro1169Leu) c.2906C>T (p.Pro969Leu) c.3854C>T (p.Pro1285Leu) c.3851C>T (p.Pro1284Leu) c.3770C>T (p.Pro1257Leu) c.3701C>T (p.Pro1234Leu) c.3569C>T (p.Pro1190Leu) c.3437C>T (p.Pro1146Leu) | |
20 | g.32436303T>A | CA510467344 | ASXL1 | c.3591T>A (p.Pro1197=) c.3408T>A (p.Pro1136=) n.5944T>A c.1869+1722T>A (n.1869+1722T>A) c.3576T>A (p.Pro1192=) c.3588T>A (p.Pro1196=) c.3561T>A (p.Pro1187=) c.3507T>A (p.Pro1169=) c.2907T>A (p.Pro969=) c.3855T>A (p.Pro1285=) c.3852T>A (p.Pro1284=) c.3771T>A (p.Pro1257=) c.3702T>A (p.Pro1234=) c.3570T>A (p.Pro1190=) c.3438T>A (p.Pro1146=) | |
20 | g.32436303T>C | CA510467345 | ASXL1 | c.3591T>C (p.Pro1197=) c.3408T>C (p.Pro1136=) n.5944T>C c.1869+1722T>C (n.1869+1722T>C) c.3576T>C (p.Pro1192=) c.3588T>C (p.Pro1196=) c.3561T>C (p.Pro1187=) c.3507T>C (p.Pro1169=) c.2907T>C (p.Pro969=) c.3855T>C (p.Pro1285=) c.3852T>C (p.Pro1284=) c.3771T>C (p.Pro1257=) c.3702T>C (p.Pro1234=) c.3570T>C (p.Pro1190=) c.3438T>C (p.Pro1146=) | |
20 | g.32436303T>G | CA510467346 | ASXL1 | c.3591T>G (p.Pro1197=) c.3408T>G (p.Pro1136=) n.5944T>G c.1869+1722T>G (n.1869+1722T>G) c.3576T>G (p.Pro1192=) c.3588T>G (p.Pro1196=) c.3561T>G (p.Pro1187=) c.3507T>G (p.Pro1169=) c.2907T>G (p.Pro969=) c.3855T>G (p.Pro1285=) c.3852T>G (p.Pro1284=) c.3771T>G (p.Pro1257=) c.3702T>G (p.Pro1234=) c.3570T>G (p.Pro1190=) c.3438T>G (p.Pro1146=) | |
20 | g.32436304G>A | CA408563382 | ASXL1 | c.3592G>A (p.Gly1198Arg) c.3409G>A (p.Gly1137Arg) n.5945G>A c.1869+1723G>A (n.1869+1723G>A) c.3577G>A (p.Gly1193Arg) c.3589G>A (p.Gly1197Arg) c.3562G>A (p.Gly1188Arg) c.3508G>A (p.Gly1170Arg) c.2908G>A (p.Gly970Arg) c.3856G>A (p.Gly1286Arg) c.3853G>A (p.Gly1285Arg) c.3772G>A (p.Gly1258Arg) c.3703G>A (p.Gly1235Arg) c.3571G>A (p.Gly1191Arg) c.3439G>A (p.Gly1147Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436304G>C | CA408563380 | ASXL1 | c.3592G>C (p.Gly1198Arg) c.3409G>C (p.Gly1137Arg) n.5945G>C c.1869+1723G>C (n.1869+1723G>C) c.3577G>C (p.Gly1193Arg) c.3589G>C (p.Gly1197Arg) c.3562G>C (p.Gly1188Arg) c.3508G>C (p.Gly1170Arg) c.2908G>C (p.Gly970Arg) c.3856G>C (p.Gly1286Arg) c.3853G>C (p.Gly1285Arg) c.3772G>C (p.Gly1258Arg) c.3703G>C (p.Gly1235Arg) c.3571G>C (p.Gly1191Arg) c.3439G>C (p.Gly1147Arg) | |
20 | g.32436304G= | CA2360293638 | ASXL1 | c.3592G= (p.Gly1198=) c.3409G= (p.Gly1137=) n.5945G= c.1869+1723G= (n.1869+1723G=) c.3577G= (p.Gly1193=) c.3589G= (p.Gly1197=) c.3562G= (p.Gly1188=) c.3508G= (p.Gly1170=) c.2908G= (p.Gly970=) c.3856G= (p.Gly1286=) c.3853G= (p.Gly1285=) c.3772G= (p.Gly1258=) c.3703G= (p.Gly1235=) c.3571G= (p.Gly1191=) c.3439G= (p.Gly1147=) | |
20 | g.32436304G>T | CA408563381 | ASXL1 | c.3592G>T (p.Gly1198Ter) c.3409G>T (p.Gly1137Ter) n.5945G>T c.1869+1723G>T (n.1869+1723G>T) c.3577G>T (p.Gly1193Ter) c.3589G>T (p.Gly1197Ter) c.3562G>T (p.Gly1188Ter) c.3508G>T (p.Gly1170Ter) c.2908G>T (p.Gly970Ter) c.3856G>T (p.Gly1286Ter) c.3853G>T (p.Gly1285Ter) c.3772G>T (p.Gly1258Ter) c.3703G>T (p.Gly1235Ter) c.3571G>T (p.Gly1191Ter) c.3439G>T (p.Gly1147Ter) | |
20 | g.32436305G>A | CA408563383 | ASXL1 | c.3593G>A (p.Gly1198Glu) c.3410G>A (p.Gly1137Glu) n.5946G>A c.1869+1724G>A (n.1869+1724G>A) c.3578G>A (p.Gly1193Glu) c.3590G>A (p.Gly1197Glu) c.3563G>A (p.Gly1188Glu) c.3509G>A (p.Gly1170Glu) c.2909G>A (p.Gly970Glu) c.3857G>A (p.Gly1286Glu) c.3854G>A (p.Gly1285Glu) c.3773G>A (p.Gly1258Glu) c.3704G>A (p.Gly1235Glu) c.3572G>A (p.Gly1191Glu) c.3440G>A (p.Gly1147Glu) | |
20 | g.32436305G>C | CA408563384 | ASXL1 | c.3593G>C (p.Gly1198Ala) c.3410G>C (p.Gly1137Ala) n.5946G>C c.1869+1724G>C (n.1869+1724G>C) c.3578G>C (p.Gly1193Ala) c.3590G>C (p.Gly1197Ala) c.3563G>C (p.Gly1188Ala) c.3509G>C (p.Gly1170Ala) c.2909G>C (p.Gly970Ala) c.3857G>C (p.Gly1286Ala) c.3854G>C (p.Gly1285Ala) c.3773G>C (p.Gly1258Ala) c.3704G>C (p.Gly1235Ala) c.3572G>C (p.Gly1191Ala) c.3440G>C (p.Gly1147Ala) | |
20 | g.32436305G>T | CA408563385 | ASXL1 | c.3593G>T (p.Gly1198Val) c.3410G>T (p.Gly1137Val) n.5946G>T c.1869+1724G>T (n.1869+1724G>T) c.3578G>T (p.Gly1193Val) c.3590G>T (p.Gly1197Val) c.3563G>T (p.Gly1188Val) c.3509G>T (p.Gly1170Val) c.2909G>T (p.Gly970Val) c.3857G>T (p.Gly1286Val) c.3854G>T (p.Gly1285Val) c.3773G>T (p.Gly1258Val) c.3704G>T (p.Gly1235Val) c.3572G>T (p.Gly1191Val) c.3440G>T (p.Gly1147Val) | COSMIC COSMIC |
20 | g.32436306A>C | CA510467347 | ASXL1 | c.3594A>C (p.Gly1198=) c.3411A>C (p.Gly1137=) n.5947A>C c.1869+1725A>C (n.1869+1725A>C) c.3579A>C (p.Gly1193=) c.3591A>C (p.Gly1197=) c.3564A>C (p.Gly1188=) c.3510A>C (p.Gly1170=) c.2910A>C (p.Gly970=) c.3858A>C (p.Gly1286=) c.3855A>C (p.Gly1285=) c.3774A>C (p.Gly1258=) c.3705A>C (p.Gly1235=) c.3573A>C (p.Gly1191=) c.3441A>C (p.Gly1147=) | |
20 | g.32436306A>G | CA510467348 | ASXL1 | c.3594A>G (p.Gly1198=) c.3411A>G (p.Gly1137=) n.5947A>G c.1869+1725A>G (n.1869+1725A>G) c.3579A>G (p.Gly1193=) c.3591A>G (p.Gly1197=) c.3564A>G (p.Gly1188=) c.3510A>G (p.Gly1170=) c.2910A>G (p.Gly970=) c.3858A>G (p.Gly1286=) c.3855A>G (p.Gly1285=) c.3774A>G (p.Gly1258=) c.3705A>G (p.Gly1235=) c.3573A>G (p.Gly1191=) c.3441A>G (p.Gly1147=) | dbSNP |
20 | g.32436306A>T | CA510467349 | ASXL1 | c.3594A>T (p.Gly1198=) c.3411A>T (p.Gly1137=) n.5947A>T c.1869+1725A>T (n.1869+1725A>T) c.3579A>T (p.Gly1193=) c.3591A>T (p.Gly1197=) c.3564A>T (p.Gly1188=) c.3510A>T (p.Gly1170=) c.2910A>T (p.Gly970=) c.3858A>T (p.Gly1286=) c.3855A>T (p.Gly1285=) c.3774A>T (p.Gly1258=) c.3705A>T (p.Gly1235=) c.3573A>T (p.Gly1191=) c.3441A>T (p.Gly1147=) | dbSNP |
20 | g.32436308_32436318del | CA2695229722 | ASXL1 | c.3596_3606del (p.Ala1199GlufsTer9) c.3413_3423del (p.Ala1138GlufsTer9) n.5949_5959del c.1869+1727_1869+1737del (n.1869+1727_1869+1737del) c.3581_3591del (p.Ala1194GlufsTer9) c.3593_3603del (p.Ala1198GlufsTer9) c.3566_3576del (p.Ala1189GlufsTer9) c.3512_3522del (p.Ala1171GlufsTer9) c.2912_2922del (p.Ala971GlufsTer9) c.3860_3870del (p.Ala1287GlufsTer9) c.3857_3867del (p.Ala1286GlufsTer9) c.3776_3786del (p.Ala1259GlufsTer9) c.3707_3717del (p.Ala1236GlufsTer9) c.3575_3585del (p.Ala1192GlufsTer9) c.3443_3453del (p.Ala1148GlufsTer9) | |
20 | g.32436307G>A | CA313926354 | ASXL1 | c.3595G>A (p.Ala1199Thr) c.3412G>A (p.Ala1138Thr) n.5948G>A c.1869+1726G>A (n.1869+1726G>A) c.3580G>A (p.Ala1194Thr) c.3592G>A (p.Ala1198Thr) c.3565G>A (p.Ala1189Thr) c.3511G>A (p.Ala1171Thr) c.2911G>A (p.Ala971Thr) c.3859G>A (p.Ala1287Thr) c.3856G>A (p.Ala1286Thr) c.3775G>A (p.Ala1259Thr) c.3706G>A (p.Ala1236Thr) c.3574G>A (p.Ala1192Thr) c.3442G>A (p.Ala1148Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
20 | g.32436307G>C | CA408563386 | ASXL1 | c.3595G>C (p.Ala1199Pro) c.3412G>C (p.Ala1138Pro) n.5948G>C c.1869+1726G>C (n.1869+1726G>C) c.3580G>C (p.Ala1194Pro) c.3592G>C (p.Ala1198Pro) c.3565G>C (p.Ala1189Pro) c.3511G>C (p.Ala1171Pro) c.2911G>C (p.Ala971Pro) c.3859G>C (p.Ala1287Pro) c.3856G>C (p.Ala1286Pro) c.3775G>C (p.Ala1259Pro) c.3706G>C (p.Ala1236Pro) c.3574G>C (p.Ala1192Pro) c.3442G>C (p.Ala1148Pro) | |
20 | g.32436307G= | CA2360293639 | ASXL1 | c.3595G= (p.Ala1199=) c.3412G= (p.Ala1138=) n.5948G= c.1869+1726G= (n.1869+1726G=) c.3580G= (p.Ala1194=) c.3592G= (p.Ala1198=) c.3565G= (p.Ala1189=) c.3511G= (p.Ala1171=) c.2911G= (p.Ala971=) c.3859G= (p.Ala1287=) c.3856G= (p.Ala1286=) c.3775G= (p.Ala1259=) c.3706G= (p.Ala1236=) c.3574G= (p.Ala1192=) c.3442G= (p.Ala1148=) | |
20 | g.32436307G>T | CA408563387 | ASXL1 | c.3595G>T (p.Ala1199Ser) c.3412G>T (p.Ala1138Ser) n.5948G>T c.1869+1726G>T (n.1869+1726G>T) c.3580G>T (p.Ala1194Ser) c.3592G>T (p.Ala1198Ser) c.3565G>T (p.Ala1189Ser) c.3511G>T (p.Ala1171Ser) c.2911G>T (p.Ala971Ser) c.3859G>T (p.Ala1287Ser) c.3856G>T (p.Ala1286Ser) c.3775G>T (p.Ala1259Ser) c.3706G>T (p.Ala1236Ser) c.3574G>T (p.Ala1192Ser) c.3442G>T (p.Ala1148Ser) | |
20 | g.32436307_32436308dup | CA2582342724 | ASXL1 | c.3595_3596dup (p.Pro1200HisfsTer18) c.3412_3413dup (p.Pro1139HisfsTer18) n.5948_5949dup c.1869+1726_1869+1727dup (n.1869+1726_1869+1727dup) c.3580_3581dup (p.Pro1195HisfsTer18) c.3592_3593dup (p.Pro1199HisfsTer18) c.3565_3566dup (p.Pro1190HisfsTer18) c.3511_3512dup (p.Pro1172HisfsTer18) c.2911_2912dup (p.Pro972HisfsTer18) c.3859_3860dup (p.Pro1288HisfsTer18) c.3856_3857dup (p.Pro1287HisfsTer18) c.3775_3776dup (p.Pro1260HisfsTer18) c.3706_3707dup (p.Pro1237HisfsTer18) c.3574_3575dup (p.Pro1193HisfsTer18) c.3442_3443dup (p.Pro1149HisfsTer18) | ClinVar |
20 | g.32436308C>A | CA408563388 | ASXL1 | c.3596C>A (p.Ala1199Glu) c.3413C>A (p.Ala1138Glu) n.5949C>A c.1869+1727C>A (n.1869+1727C>A) c.3581C>A (p.Ala1194Glu) c.3593C>A (p.Ala1198Glu) c.3566C>A (p.Ala1189Glu) c.3512C>A (p.Ala1171Glu) c.2912C>A (p.Ala971Glu) c.3860C>A (p.Ala1287Glu) c.3857C>A (p.Ala1286Glu) c.3776C>A (p.Ala1259Glu) c.3707C>A (p.Ala1236Glu) c.3575C>A (p.Ala1192Glu) c.3443C>A (p.Ala1148Glu) | dbSNP |
20 | g.32436308C= | CA2360293640 | ASXL1 | c.3596C= (p.Ala1199=) c.3413C= (p.Ala1138=) n.5949C= c.1869+1727C= (n.1869+1727C=) c.3581C= (p.Ala1194=) c.3593C= (p.Ala1198=) c.3566C= (p.Ala1189=) c.3512C= (p.Ala1171=) c.2912C= (p.Ala971=) c.3860C= (p.Ala1287=) c.3857C= (p.Ala1286=) c.3776C= (p.Ala1259=) c.3707C= (p.Ala1236=) c.3575C= (p.Ala1192=) c.3443C= (p.Ala1148=) | |
20 | g.32436308C>G | CA408563389 | ASXL1 | c.3596C>G (p.Ala1199Gly) c.3413C>G (p.Ala1138Gly) n.5949C>G c.1869+1727C>G (n.1869+1727C>G) c.3581C>G (p.Ala1194Gly) c.3593C>G (p.Ala1198Gly) c.3566C>G (p.Ala1189Gly) c.3512C>G (p.Ala1171Gly) c.2912C>G (p.Ala971Gly) c.3860C>G (p.Ala1287Gly) c.3857C>G (p.Ala1286Gly) c.3776C>G (p.Ala1259Gly) c.3707C>G (p.Ala1236Gly) c.3575C>G (p.Ala1192Gly) c.3443C>G (p.Ala1148Gly) | |
20 | g.32436308C>T | CA408563390 | ASXL1 | c.3596C>T (p.Ala1199Val) c.3413C>T (p.Ala1138Val) n.5949C>T c.1869+1727C>T (n.1869+1727C>T) c.3581C>T (p.Ala1194Val) c.3593C>T (p.Ala1198Val) c.3566C>T (p.Ala1189Val) c.3512C>T (p.Ala1171Val) c.2912C>T (p.Ala971Val) c.3860C>T (p.Ala1287Val) c.3857C>T (p.Ala1286Val) c.3776C>T (p.Ala1259Val) c.3707C>T (p.Ala1236Val) c.3575C>T (p.Ala1192Val) c.3443C>T (p.Ala1148Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436309A>C | CA510467350 | ASXL1 | c.3597A>C (p.Ala1199=) c.3414A>C (p.Ala1138=) n.5950A>C c.1869+1728A>C (n.1869+1728A>C) c.3582A>C (p.Ala1194=) c.3594A>C (p.Ala1198=) c.3567A>C (p.Ala1189=) c.3513A>C (p.Ala1171=) c.2913A>C (p.Ala971=) c.3861A>C (p.Ala1287=) c.3858A>C (p.Ala1286=) c.3777A>C (p.Ala1259=) c.3708A>C (p.Ala1236=) c.3576A>C (p.Ala1192=) c.3444A>C (p.Ala1148=) | |
20 | g.32436309A>G | CA510467351 | ASXL1 | c.3597A>G (p.Ala1199=) c.3414A>G (p.Ala1138=) n.5950A>G c.1869+1728A>G (n.1869+1728A>G) c.3582A>G (p.Ala1194=) c.3594A>G (p.Ala1198=) c.3567A>G (p.Ala1189=) c.3513A>G (p.Ala1171=) c.2913A>G (p.Ala971=) c.3861A>G (p.Ala1287=) c.3858A>G (p.Ala1286=) c.3777A>G (p.Ala1259=) c.3708A>G (p.Ala1236=) c.3576A>G (p.Ala1192=) c.3444A>G (p.Ala1148=) | |
20 | g.32436309A>T | CA510467352 | ASXL1 | c.3597A>T (p.Ala1199=) c.3414A>T (p.Ala1138=) n.5950A>T c.1869+1728A>T (n.1869+1728A>T) c.3582A>T (p.Ala1194=) c.3594A>T (p.Ala1198=) c.3567A>T (p.Ala1189=) c.3513A>T (p.Ala1171=) c.2913A>T (p.Ala971=) c.3861A>T (p.Ala1287=) c.3858A>T (p.Ala1286=) c.3777A>T (p.Ala1259=) c.3708A>T (p.Ala1236=) c.3576A>T (p.Ala1192=) c.3444A>T (p.Ala1148=) | |
20 | g.32436310C>A | CA408563391 | ASXL1 | c.3598C>A (p.Pro1200Thr) c.3415C>A (p.Pro1139Thr) n.5951C>A c.1869+1729C>A (n.1869+1729C>A) c.3583C>A (p.Pro1195Thr) c.3595C>A (p.Pro1199Thr) c.3568C>A (p.Pro1190Thr) c.3514C>A (p.Pro1172Thr) c.2914C>A (p.Pro972Thr) c.3862C>A (p.Pro1288Thr) c.3859C>A (p.Pro1287Thr) c.3778C>A (p.Pro1260Thr) c.3709C>A (p.Pro1237Thr) c.3577C>A (p.Pro1193Thr) c.3445C>A (p.Pro1149Thr) | |
20 | g.32436310C>G | CA408563392 | ASXL1 | c.3598C>G (p.Pro1200Ala) c.3415C>G (p.Pro1139Ala) n.5951C>G c.1869+1729C>G (n.1869+1729C>G) c.3583C>G (p.Pro1195Ala) c.3595C>G (p.Pro1199Ala) c.3568C>G (p.Pro1190Ala) c.3514C>G (p.Pro1172Ala) c.2914C>G (p.Pro972Ala) c.3862C>G (p.Pro1288Ala) c.3859C>G (p.Pro1287Ala) c.3778C>G (p.Pro1260Ala) c.3709C>G (p.Pro1237Ala) c.3577C>G (p.Pro1193Ala) c.3445C>G (p.Pro1149Ala) | |
20 | g.32436310C>T | CA408563393 | ASXL1 | c.3598C>T (p.Pro1200Ser) c.3415C>T (p.Pro1139Ser) n.5951C>T c.1869+1729C>T (n.1869+1729C>T) c.3583C>T (p.Pro1195Ser) c.3595C>T (p.Pro1199Ser) c.3568C>T (p.Pro1190Ser) c.3514C>T (p.Pro1172Ser) c.2914C>T (p.Pro972Ser) c.3862C>T (p.Pro1288Ser) c.3859C>T (p.Pro1287Ser) c.3778C>T (p.Pro1260Ser) c.3709C>T (p.Pro1237Ser) c.3577C>T (p.Pro1193Ser) c.3445C>T (p.Pro1149Ser) | gnomAD v4 COSMIC COSMIC |
20 | g.32436313del | CA2695229723 | ASXL1 | c.3601del (p.Gln1201LysfsTer16) c.3418del (p.Gln1140LysfsTer16) n.5954del c.1869+1732del (n.1869+1732del) c.3586del (p.Gln1196LysfsTer16) c.3598del (p.Gln1200LysfsTer16) c.3571del (p.Gln1191LysfsTer16) c.3517del (p.Gln1173LysfsTer16) c.2917del (p.Gln973LysfsTer16) c.3865del (p.Gln1289LysfsTer16) c.3862del (p.Gln1288LysfsTer16) c.3781del (p.Gln1261LysfsTer16) c.3712del (p.Gln1238LysfsTer16) c.3580del (p.Gln1194LysfsTer16) c.3448del (p.Gln1150LysfsTer16) | |
20 | g.32436311C>A | CA408563394 | ASXL1 | c.3599C>A (p.Pro1200His) c.3416C>A (p.Pro1139His) n.5952C>A c.1869+1730C>A (n.1869+1730C>A) c.3584C>A (p.Pro1195His) c.3596C>A (p.Pro1199His) c.3569C>A (p.Pro1190His) c.3515C>A (p.Pro1172His) c.2915C>A (p.Pro972His) c.3863C>A (p.Pro1288His) c.3860C>A (p.Pro1287His) c.3779C>A (p.Pro1260His) c.3710C>A (p.Pro1237His) c.3578C>A (p.Pro1193His) c.3446C>A (p.Pro1149His) | dbSNP |
20 | g.32436311C= | CA2360293641 | ASXL1 | c.3599C= (p.Pro1200=) c.3416C= (p.Pro1139=) n.5952C= c.1869+1730C= (n.1869+1730C=) c.3584C= (p.Pro1195=) c.3596C= (p.Pro1199=) c.3569C= (p.Pro1190=) c.3515C= (p.Pro1172=) c.2915C= (p.Pro972=) c.3863C= (p.Pro1288=) c.3860C= (p.Pro1287=) c.3779C= (p.Pro1260=) c.3710C= (p.Pro1237=) c.3578C= (p.Pro1193=) c.3446C= (p.Pro1149=) | |
20 | g.32436311C>G | CA408563395 | ASXL1 | c.3599C>G (p.Pro1200Arg) c.3416C>G (p.Pro1139Arg) n.5952C>G c.1869+1730C>G (n.1869+1730C>G) c.3584C>G (p.Pro1195Arg) c.3596C>G (p.Pro1199Arg) c.3569C>G (p.Pro1190Arg) c.3515C>G (p.Pro1172Arg) c.2915C>G (p.Pro972Arg) c.3863C>G (p.Pro1288Arg) c.3860C>G (p.Pro1287Arg) c.3779C>G (p.Pro1260Arg) c.3710C>G (p.Pro1237Arg) c.3578C>G (p.Pro1193Arg) c.3446C>G (p.Pro1149Arg) | gnomAD v4 |
20 | g.32436311C>T | CA9808860 | ASXL1 | c.3599C>T (p.Pro1200Leu) c.3416C>T (p.Pro1139Leu) n.5952C>T c.1869+1730C>T (n.1869+1730C>T) c.3584C>T (p.Pro1195Leu) c.3596C>T (p.Pro1199Leu) c.3569C>T (p.Pro1190Leu) c.3515C>T (p.Pro1172Leu) c.2915C>T (p.Pro972Leu) c.3863C>T (p.Pro1288Leu) c.3860C>T (p.Pro1287Leu) c.3779C>T (p.Pro1260Leu) c.3710C>T (p.Pro1237Leu) c.3578C>T (p.Pro1193Leu) c.3446C>T (p.Pro1149Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436312C>A | CA510467353 | ASXL1 | c.3600C>A (p.Pro1200=) c.3417C>A (p.Pro1139=) n.5953C>A c.1869+1731C>A (n.1869+1731C>A) c.3585C>A (p.Pro1195=) c.3597C>A (p.Pro1199=) c.3570C>A (p.Pro1190=) c.3516C>A (p.Pro1172=) c.2916C>A (p.Pro972=) c.3864C>A (p.Pro1288=) c.3861C>A (p.Pro1287=) c.3780C>A (p.Pro1260=) c.3711C>A (p.Pro1237=) c.3579C>A (p.Pro1193=) c.3447C>A (p.Pro1149=) | dbSNP |
20 | g.32436312C>G | CA510467354 | ASXL1 | c.3600C>G (p.Pro1200=) c.3417C>G (p.Pro1139=) n.5953C>G c.1869+1731C>G (n.1869+1731C>G) c.3585C>G (p.Pro1195=) c.3597C>G (p.Pro1199=) c.3570C>G (p.Pro1190=) c.3516C>G (p.Pro1172=) c.2916C>G (p.Pro972=) c.3864C>G (p.Pro1288=) c.3861C>G (p.Pro1287=) c.3780C>G (p.Pro1260=) c.3711C>G (p.Pro1237=) c.3579C>G (p.Pro1193=) c.3447C>G (p.Pro1149=) | |
20 | g.32436312C>T | CA510467355 | ASXL1 | c.3600C>T (p.Pro1200=) c.3417C>T (p.Pro1139=) n.5953C>T c.1869+1731C>T (n.1869+1731C>T) c.3585C>T (p.Pro1195=) c.3597C>T (p.Pro1199=) c.3570C>T (p.Pro1190=) c.3516C>T (p.Pro1172=) c.2916C>T (p.Pro972=) c.3864C>T (p.Pro1288=) c.3861C>T (p.Pro1287=) c.3780C>T (p.Pro1260=) c.3711C>T (p.Pro1237=) c.3579C>T (p.Pro1193=) c.3447C>T (p.Pro1149=) | |
20 | g.32436313C>A | CA408563398 | ASXL1 | c.3601C>A (p.Gln1201Lys) c.3418C>A (p.Gln1140Lys) n.5954C>A c.1869+1732C>A (n.1869+1732C>A) c.3586C>A (p.Gln1196Lys) c.3598C>A (p.Gln1200Lys) c.3571C>A (p.Gln1191Lys) c.3517C>A (p.Gln1173Lys) c.2917C>A (p.Gln973Lys) c.3865C>A (p.Gln1289Lys) c.3862C>A (p.Gln1288Lys) c.3781C>A (p.Gln1261Lys) c.3712C>A (p.Gln1238Lys) c.3580C>A (p.Gln1194Lys) c.3448C>A (p.Gln1150Lys) | |
20 | g.32436313C>G | CA408563396 | ASXL1 | c.3601C>G (p.Gln1201Glu) c.3418C>G (p.Gln1140Glu) n.5954C>G c.1869+1732C>G (n.1869+1732C>G) c.3586C>G (p.Gln1196Glu) c.3598C>G (p.Gln1200Glu) c.3571C>G (p.Gln1191Glu) c.3517C>G (p.Gln1173Glu) c.2917C>G (p.Gln973Glu) c.3865C>G (p.Gln1289Glu) c.3862C>G (p.Gln1288Glu) c.3781C>G (p.Gln1261Glu) c.3712C>G (p.Gln1238Glu) c.3580C>G (p.Gln1194Glu) c.3448C>G (p.Gln1150Glu) | |
20 | g.32436313C>T | CA408563397 | ASXL1 | c.3601C>T (p.Gln1201Ter) c.3418C>T (p.Gln1140Ter) n.5954C>T c.1869+1732C>T (n.1869+1732C>T) c.3586C>T (p.Gln1196Ter) c.3598C>T (p.Gln1200Ter) c.3571C>T (p.Gln1191Ter) c.3517C>T (p.Gln1173Ter) c.2917C>T (p.Gln973Ter) c.3865C>T (p.Gln1289Ter) c.3862C>T (p.Gln1288Ter) c.3781C>T (p.Gln1261Ter) c.3712C>T (p.Gln1238Ter) c.3580C>T (p.Gln1194Ter) c.3448C>T (p.Gln1150Ter) | |
20 | g.32436314A= | CA2360293642 | ASXL1 | c.3602A= (p.Gln1201=) c.3419A= (p.Gln1140=) n.5955A= c.1869+1733A= (n.1869+1733A=) c.3587A= (p.Gln1196=) c.3599A= (p.Gln1200=) c.3572A= (p.Gln1191=) c.3518A= (p.Gln1173=) c.2918A= (p.Gln973=) c.3866A= (p.Gln1289=) c.3863A= (p.Gln1288=) c.3782A= (p.Gln1261=) c.3713A= (p.Gln1238=) c.3581A= (p.Gln1194=) c.3449A= (p.Gln1150=) | |
20 | g.32436314A>C | CA408563399 | ASXL1 | c.3602A>C (p.Gln1201Pro) c.3419A>C (p.Gln1140Pro) n.5955A>C c.1869+1733A>C (n.1869+1733A>C) c.3587A>C (p.Gln1196Pro) c.3599A>C (p.Gln1200Pro) c.3572A>C (p.Gln1191Pro) c.3518A>C (p.Gln1173Pro) c.2918A>C (p.Gln973Pro) c.3866A>C (p.Gln1289Pro) c.3863A>C (p.Gln1288Pro) c.3782A>C (p.Gln1261Pro) c.3713A>C (p.Gln1238Pro) c.3581A>C (p.Gln1194Pro) c.3449A>C (p.Gln1150Pro) | |
20 | g.32436314A>G | CA9808861 | ASXL1 | c.3602A>G (p.Gln1201Arg) c.3419A>G (p.Gln1140Arg) n.5955A>G c.1869+1733A>G (n.1869+1733A>G) c.3587A>G (p.Gln1196Arg) c.3599A>G (p.Gln1200Arg) c.3572A>G (p.Gln1191Arg) c.3518A>G (p.Gln1173Arg) c.2918A>G (p.Gln973Arg) c.3866A>G (p.Gln1289Arg) c.3863A>G (p.Gln1288Arg) c.3782A>G (p.Gln1261Arg) c.3713A>G (p.Gln1238Arg) c.3581A>G (p.Gln1194Arg) c.3449A>G (p.Gln1150Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436314A>T | CA408563400 | ASXL1 | c.3602A>T (p.Gln1201Leu) c.3419A>T (p.Gln1140Leu) n.5955A>T c.1869+1733A>T (n.1869+1733A>T) c.3587A>T (p.Gln1196Leu) c.3599A>T (p.Gln1200Leu) c.3572A>T (p.Gln1191Leu) c.3518A>T (p.Gln1173Leu) c.2918A>T (p.Gln973Leu) c.3866A>T (p.Gln1289Leu) c.3863A>T (p.Gln1288Leu) c.3782A>T (p.Gln1261Leu) c.3713A>T (p.Gln1238Leu) c.3581A>T (p.Gln1194Leu) c.3449A>T (p.Gln1150Leu) | |
20 | g.32436317dup | CA645612966 | ASXL1 | c.3605dup (p.Asn1203GlufsTer9) c.3422dup (p.Asn1142GlufsTer9) n.5958dup c.1869+1736dup (n.1869+1736dup) c.3590dup (p.Asn1198GlufsTer9) c.3602dup (p.Asn1202GlufsTer9) c.3575dup (p.Asn1193GlufsTer9) c.3521dup (p.Asn1175GlufsTer9) c.2921dup (p.Asn975GlufsTer9) c.3869dup (p.Asn1291GlufsTer9) c.3866dup (p.Asn1290GlufsTer9) c.3785dup (p.Asn1263GlufsTer9) c.3716dup (p.Asn1240GlufsTer9) c.3584dup (p.Asn1196GlufsTer9) c.3452dup (p.Asn1152GlufsTer9) | COSMIC |
20 | g.32436315A= | CA2360293643 | ASXL1 | c.3603A= (p.Gln1201=) c.3420A= (p.Gln1140=) n.5956A= c.1869+1734A= (n.1869+1734A=) c.3588A= (p.Gln1196=) c.3600A= (p.Gln1200=) c.3573A= (p.Gln1191=) c.3519A= (p.Gln1173=) c.2919A= (p.Gln973=) c.3867A= (p.Gln1289=) c.3864A= (p.Gln1288=) c.3783A= (p.Gln1261=) c.3714A= (p.Gln1238=) c.3582A= (p.Gln1194=) c.3450A= (p.Gln1150=) | |
20 | g.32436315A>C | CA408563401 | ASXL1 | c.3603A>C (p.Gln1201His) c.3420A>C (p.Gln1140His) n.5956A>C c.1869+1734A>C (n.1869+1734A>C) c.3588A>C (p.Gln1196His) c.3600A>C (p.Gln1200His) c.3573A>C (p.Gln1191His) c.3519A>C (p.Gln1173His) c.2919A>C (p.Gln973His) c.3867A>C (p.Gln1289His) c.3864A>C (p.Gln1288His) c.3783A>C (p.Gln1261His) c.3714A>C (p.Gln1238His) c.3582A>C (p.Gln1194His) c.3450A>C (p.Gln1150His) | dbSNP |
20 | g.32436315A>G | CA510467356 | ASXL1 | c.3603A>G (p.Gln1201=) c.3420A>G (p.Gln1140=) n.5956A>G c.1869+1734A>G (n.1869+1734A>G) c.3588A>G (p.Gln1196=) c.3600A>G (p.Gln1200=) c.3573A>G (p.Gln1191=) c.3519A>G (p.Gln1173=) c.2919A>G (p.Gln973=) c.3867A>G (p.Gln1289=) c.3864A>G (p.Gln1288=) c.3783A>G (p.Gln1261=) c.3714A>G (p.Gln1238=) c.3582A>G (p.Gln1194=) c.3450A>G (p.Gln1150=) | dbSNP gnomAD v4 |
20 | g.32436315A>T | CA408563402 | ASXL1 | c.3603A>T (p.Gln1201His) c.3420A>T (p.Gln1140His) n.5956A>T c.1869+1734A>T (n.1869+1734A>T) c.3588A>T (p.Gln1196His) c.3600A>T (p.Gln1200His) c.3573A>T (p.Gln1191His) c.3519A>T (p.Gln1173His) c.2919A>T (p.Gln973His) c.3867A>T (p.Gln1289His) c.3864A>T (p.Gln1288His) c.3783A>T (p.Gln1261His) c.3714A>T (p.Gln1238His) c.3582A>T (p.Gln1194His) c.3450A>T (p.Gln1150His) | |
20 | g.32436316A>C | CA408563403 | ASXL1 | c.3604A>C (p.Lys1202Gln) c.3421A>C (p.Lys1141Gln) n.5957A>C c.1869+1735A>C (n.1869+1735A>C) c.3589A>C (p.Lys1197Gln) c.3601A>C (p.Lys1201Gln) c.3574A>C (p.Lys1192Gln) c.3520A>C (p.Lys1174Gln) c.2920A>C (p.Lys974Gln) c.3868A>C (p.Lys1290Gln) c.3865A>C (p.Lys1289Gln) c.3784A>C (p.Lys1262Gln) c.3715A>C (p.Lys1239Gln) c.3583A>C (p.Lys1195Gln) c.3451A>C (p.Lys1151Gln) | |
20 | g.32436316A>G | CA408563404 | ASXL1 | c.3604A>G (p.Lys1202Glu) c.3421A>G (p.Lys1141Glu) n.5957A>G c.1869+1735A>G (n.1869+1735A>G) c.3589A>G (p.Lys1197Glu) c.3601A>G (p.Lys1201Glu) c.3574A>G (p.Lys1192Glu) c.3520A>G (p.Lys1174Glu) c.2920A>G (p.Lys974Glu) c.3868A>G (p.Lys1290Glu) c.3865A>G (p.Lys1289Glu) c.3784A>G (p.Lys1262Glu) c.3715A>G (p.Lys1239Glu) c.3583A>G (p.Lys1195Glu) c.3451A>G (p.Lys1151Glu) | |
20 | g.32436316A>T | CA408563405 | ASXL1 | c.3604A>T (p.Lys1202Ter) c.3421A>T (p.Lys1141Ter) n.5957A>T c.1869+1735A>T (n.1869+1735A>T) c.3589A>T (p.Lys1197Ter) c.3601A>T (p.Lys1201Ter) c.3574A>T (p.Lys1192Ter) c.3520A>T (p.Lys1174Ter) c.2920A>T (p.Lys974Ter) c.3868A>T (p.Lys1290Ter) c.3865A>T (p.Lys1289Ter) c.3784A>T (p.Lys1262Ter) c.3715A>T (p.Lys1239Ter) c.3583A>T (p.Lys1195Ter) c.3451A>T (p.Lys1151Ter) | |
20 | g.32436317A>C | CA408563406 | ASXL1 | c.3605A>C (p.Lys1202Thr) c.3422A>C (p.Lys1141Thr) n.5958A>C c.1869+1736A>C (n.1869+1736A>C) c.3590A>C (p.Lys1197Thr) c.3602A>C (p.Lys1201Thr) c.3575A>C (p.Lys1192Thr) c.3521A>C (p.Lys1174Thr) c.2921A>C (p.Lys974Thr) c.3869A>C (p.Lys1290Thr) c.3866A>C (p.Lys1289Thr) c.3785A>C (p.Lys1262Thr) c.3716A>C (p.Lys1239Thr) c.3584A>C (p.Lys1195Thr) c.3452A>C (p.Lys1151Thr) | |
20 | g.32436317A>G | CA408563407 | ASXL1 | c.3605A>G (p.Lys1202Arg) c.3422A>G (p.Lys1141Arg) n.5958A>G c.1869+1736A>G (n.1869+1736A>G) c.3590A>G (p.Lys1197Arg) c.3602A>G (p.Lys1201Arg) c.3575A>G (p.Lys1192Arg) c.3521A>G (p.Lys1174Arg) c.2921A>G (p.Lys974Arg) c.3869A>G (p.Lys1290Arg) c.3866A>G (p.Lys1289Arg) c.3785A>G (p.Lys1262Arg) c.3716A>G (p.Lys1239Arg) c.3584A>G (p.Lys1195Arg) c.3452A>G (p.Lys1151Arg) | dbSNP |
20 | g.32436317A>T | CA408563408 | ASXL1 | c.3605A>T (p.Lys1202Met) c.3422A>T (p.Lys1141Met) n.5958A>T c.1869+1736A>T (n.1869+1736A>T) c.3590A>T (p.Lys1197Met) c.3602A>T (p.Lys1201Met) c.3575A>T (p.Lys1192Met) c.3521A>T (p.Lys1174Met) c.2921A>T (p.Lys974Met) c.3869A>T (p.Lys1290Met) c.3866A>T (p.Lys1289Met) c.3785A>T (p.Lys1262Met) c.3716A>T (p.Lys1239Met) c.3584A>T (p.Lys1195Met) c.3452A>T (p.Lys1151Met) | |
20 | g.32436318G>A | CA510467357 | ASXL1 | c.3606G>A (p.Lys1202=) c.3423G>A (p.Lys1141=) n.5959G>A c.1869+1737G>A (n.1869+1737G>A) c.3591G>A (p.Lys1197=) c.3603G>A (p.Lys1201=) c.3576G>A (p.Lys1192=) c.3522G>A (p.Lys1174=) c.2922G>A (p.Lys974=) c.3870G>A (p.Lys1290=) c.3867G>A (p.Lys1289=) c.3786G>A (p.Lys1262=) c.3717G>A (p.Lys1239=) c.3585G>A (p.Lys1195=) c.3453G>A (p.Lys1151=) | dbSNP |
20 | g.32436318G>C | CA408563410 | ASXL1 | c.3606G>C (p.Lys1202Asn) c.3423G>C (p.Lys1141Asn) n.5959G>C c.1869+1737G>C (n.1869+1737G>C) c.3591G>C (p.Lys1197Asn) c.3603G>C (p.Lys1201Asn) c.3576G>C (p.Lys1192Asn) c.3522G>C (p.Lys1174Asn) c.2922G>C (p.Lys974Asn) c.3870G>C (p.Lys1290Asn) c.3867G>C (p.Lys1289Asn) c.3786G>C (p.Lys1262Asn) c.3717G>C (p.Lys1239Asn) c.3585G>C (p.Lys1195Asn) c.3453G>C (p.Lys1151Asn) | |
20 | g.32436318G>T | CA408563409 | ASXL1 | c.3606G>T (p.Lys1202Asn) c.3423G>T (p.Lys1141Asn) n.5959G>T c.1869+1737G>T (n.1869+1737G>T) c.3591G>T (p.Lys1197Asn) c.3603G>T (p.Lys1201Asn) c.3576G>T (p.Lys1192Asn) c.3522G>T (p.Lys1174Asn) c.2922G>T (p.Lys974Asn) c.3870G>T (p.Lys1290Asn) c.3867G>T (p.Lys1289Asn) c.3786G>T (p.Lys1262Asn) c.3717G>T (p.Lys1239Asn) c.3585G>T (p.Lys1195Asn) c.3453G>T (p.Lys1151Asn) | ClinVar gnomAD v4 |
20 | g.32436319A>C | CA408563411 | ASXL1 | c.3607A>C (p.Asn1203His) c.3424A>C (p.Asn1142His) n.5960A>C c.1869+1738A>C (n.1869+1738A>C) c.3592A>C (p.Asn1198His) c.3604A>C (p.Asn1202His) c.3577A>C (p.Asn1193His) c.3523A>C (p.Asn1175His) c.2923A>C (p.Asn975His) c.3871A>C (p.Asn1291His) c.3868A>C (p.Asn1290His) c.3787A>C (p.Asn1263His) c.3718A>C (p.Asn1240His) c.3586A>C (p.Asn1196His) c.3454A>C (p.Asn1152His) | |
20 | g.32436319A>G | CA408563412 | ASXL1 | c.3607A>G (p.Asn1203Asp) c.3424A>G (p.Asn1142Asp) n.5960A>G c.1869+1738A>G (n.1869+1738A>G) c.3592A>G (p.Asn1198Asp) c.3604A>G (p.Asn1202Asp) c.3577A>G (p.Asn1193Asp) c.3523A>G (p.Asn1175Asp) c.2923A>G (p.Asn975Asp) c.3871A>G (p.Asn1291Asp) c.3868A>G (p.Asn1290Asp) c.3787A>G (p.Asn1263Asp) c.3718A>G (p.Asn1240Asp) c.3586A>G (p.Asn1196Asp) c.3454A>G (p.Asn1152Asp) | |
20 | g.32436319A>T | CA408563413 | ASXL1 | c.3607A>T (p.Asn1203Tyr) c.3424A>T (p.Asn1142Tyr) n.5960A>T c.1869+1738A>T (n.1869+1738A>T) c.3592A>T (p.Asn1198Tyr) c.3604A>T (p.Asn1202Tyr) c.3577A>T (p.Asn1193Tyr) c.3523A>T (p.Asn1175Tyr) c.2923A>T (p.Asn975Tyr) c.3871A>T (p.Asn1291Tyr) c.3868A>T (p.Asn1290Tyr) c.3787A>T (p.Asn1263Tyr) c.3718A>T (p.Asn1240Tyr) c.3586A>T (p.Asn1196Tyr) c.3454A>T (p.Asn1152Tyr) | |
20 | g.32436320A>C | CA408563414 | ASXL1 | c.3608A>C (p.Asn1203Thr) c.3425A>C (p.Asn1142Thr) n.5961A>C c.1869+1739A>C (n.1869+1739A>C) c.3593A>C (p.Asn1198Thr) c.3605A>C (p.Asn1202Thr) c.3578A>C (p.Asn1193Thr) c.3524A>C (p.Asn1175Thr) c.2924A>C (p.Asn975Thr) c.3872A>C (p.Asn1291Thr) c.3869A>C (p.Asn1290Thr) c.3788A>C (p.Asn1263Thr) c.3719A>C (p.Asn1240Thr) c.3587A>C (p.Asn1196Thr) c.3455A>C (p.Asn1152Thr) | |
20 | g.32436320A>G | CA408563415 | ASXL1 | c.3608A>G (p.Asn1203Ser) c.3425A>G (p.Asn1142Ser) n.5961A>G c.1869+1739A>G (n.1869+1739A>G) c.3593A>G (p.Asn1198Ser) c.3605A>G (p.Asn1202Ser) c.3578A>G (p.Asn1193Ser) c.3524A>G (p.Asn1175Ser) c.2924A>G (p.Asn975Ser) c.3872A>G (p.Asn1291Ser) c.3869A>G (p.Asn1290Ser) c.3788A>G (p.Asn1263Ser) c.3719A>G (p.Asn1240Ser) c.3587A>G (p.Asn1196Ser) c.3455A>G (p.Asn1152Ser) | |
20 | g.32436320A>T | CA408563416 | ASXL1 | c.3608A>T (p.Asn1203Ile) c.3425A>T (p.Asn1142Ile) n.5961A>T c.1869+1739A>T (n.1869+1739A>T) c.3593A>T (p.Asn1198Ile) c.3605A>T (p.Asn1202Ile) c.3578A>T (p.Asn1193Ile) c.3524A>T (p.Asn1175Ile) c.2924A>T (p.Asn975Ile) c.3872A>T (p.Asn1291Ile) c.3869A>T (p.Asn1290Ile) c.3788A>T (p.Asn1263Ile) c.3719A>T (p.Asn1240Ile) c.3587A>T (p.Asn1196Ile) c.3455A>T (p.Asn1152Ile) | |
20 | g.32436321T>A | CA408563417 | ASXL1 | c.3609T>A (p.Asn1203Lys) c.3426T>A (p.Asn1142Lys) n.5962T>A c.1869+1740T>A (n.1869+1740T>A) c.3594T>A (p.Asn1198Lys) c.3606T>A (p.Asn1202Lys) c.3579T>A (p.Asn1193Lys) c.3525T>A (p.Asn1175Lys) c.2925T>A (p.Asn975Lys) c.3873T>A (p.Asn1291Lys) c.3870T>A (p.Asn1290Lys) c.3789T>A (p.Asn1263Lys) c.3720T>A (p.Asn1240Lys) c.3588T>A (p.Asn1196Lys) c.3456T>A (p.Asn1152Lys) | dbSNP |
20 | g.32436321T>C | CA510467358 | ASXL1 | c.3609T>C (p.Asn1203=) c.3426T>C (p.Asn1142=) n.5962T>C c.1869+1740T>C (n.1869+1740T>C) c.3594T>C (p.Asn1198=) c.3606T>C (p.Asn1202=) c.3579T>C (p.Asn1193=) c.3525T>C (p.Asn1175=) c.2925T>C (p.Asn975=) c.3873T>C (p.Asn1291=) c.3870T>C (p.Asn1290=) c.3789T>C (p.Asn1263=) c.3720T>C (p.Asn1240=) c.3588T>C (p.Asn1196=) c.3456T>C (p.Asn1152=) | |
20 | g.32436321T>G | CA408563418 | ASXL1 | c.3609T>G (p.Asn1203Lys) c.3426T>G (p.Asn1142Lys) n.5962T>G c.1869+1740T>G (n.1869+1740T>G) c.3594T>G (p.Asn1198Lys) c.3606T>G (p.Asn1202Lys) c.3579T>G (p.Asn1193Lys) c.3525T>G (p.Asn1175Lys) c.2925T>G (p.Asn975Lys) c.3873T>G (p.Asn1291Lys) c.3870T>G (p.Asn1290Lys) c.3789T>G (p.Asn1263Lys) c.3720T>G (p.Asn1240Lys) c.3588T>G (p.Asn1196Lys) c.3456T>G (p.Asn1152Lys) | |
20 | g.32436322T>A | CA408563419 | ASXL1 | c.3610T>A (p.Cys1204Ser) c.3427T>A (p.Cys1143Ser) n.5963T>A c.1869+1741T>A (n.1869+1741T>A) c.3595T>A (p.Cys1199Ser) c.3607T>A (p.Cys1203Ser) c.3580T>A (p.Cys1194Ser) c.3526T>A (p.Cys1176Ser) c.2926T>A (p.Cys976Ser) c.3874T>A (p.Cys1292Ser) c.3871T>A (p.Cys1291Ser) c.3790T>A (p.Cys1264Ser) c.3721T>A (p.Cys1241Ser) c.3589T>A (p.Cys1197Ser) c.3457T>A (p.Cys1153Ser) | |
20 | g.32436322T>C | CA408563420 | ASXL1 | c.3610T>C (p.Cys1204Arg) c.3427T>C (p.Cys1143Arg) n.5963T>C c.1869+1741T>C (n.1869+1741T>C) c.3595T>C (p.Cys1199Arg) c.3607T>C (p.Cys1203Arg) c.3580T>C (p.Cys1194Arg) c.3526T>C (p.Cys1176Arg) c.2926T>C (p.Cys976Arg) c.3874T>C (p.Cys1292Arg) c.3871T>C (p.Cys1291Arg) c.3790T>C (p.Cys1264Arg) c.3721T>C (p.Cys1241Arg) c.3589T>C (p.Cys1197Arg) c.3457T>C (p.Cys1153Arg) | |
20 | g.32436322T>G | CA408563421 | ASXL1 | c.3610T>G (p.Cys1204Gly) c.3427T>G (p.Cys1143Gly) n.5963T>G c.1869+1741T>G (n.1869+1741T>G) c.3595T>G (p.Cys1199Gly) c.3607T>G (p.Cys1203Gly) c.3580T>G (p.Cys1194Gly) c.3526T>G (p.Cys1176Gly) c.2926T>G (p.Cys976Gly) c.3874T>G (p.Cys1292Gly) c.3871T>G (p.Cys1291Gly) c.3790T>G (p.Cys1264Gly) c.3721T>G (p.Cys1241Gly) c.3589T>G (p.Cys1197Gly) c.3457T>G (p.Cys1153Gly) | |
20 | g.32436323G>A | CA408563422 | ASXL1 | c.3611G>A (p.Cys1204Tyr) c.3428G>A (p.Cys1143Tyr) n.5964G>A c.1869+1742G>A (n.1869+1742G>A) c.3596G>A (p.Cys1199Tyr) c.3608G>A (p.Cys1203Tyr) c.3581G>A (p.Cys1194Tyr) c.3527G>A (p.Cys1176Tyr) c.2927G>A (p.Cys976Tyr) c.3875G>A (p.Cys1292Tyr) c.3872G>A (p.Cys1291Tyr) c.3791G>A (p.Cys1264Tyr) c.3722G>A (p.Cys1241Tyr) c.3590G>A (p.Cys1197Tyr) c.3458G>A (p.Cys1153Tyr) | gnomAD v4 |
20 | g.32436323G>C | CA408563423 | ASXL1 | c.3611G>C (p.Cys1204Ser) c.3428G>C (p.Cys1143Ser) n.5964G>C c.1869+1742G>C (n.1869+1742G>C) c.3596G>C (p.Cys1199Ser) c.3608G>C (p.Cys1203Ser) c.3581G>C (p.Cys1194Ser) c.3527G>C (p.Cys1176Ser) c.2927G>C (p.Cys976Ser) c.3875G>C (p.Cys1292Ser) c.3872G>C (p.Cys1291Ser) c.3791G>C (p.Cys1264Ser) c.3722G>C (p.Cys1241Ser) c.3590G>C (p.Cys1197Ser) c.3458G>C (p.Cys1153Ser) | dbSNP |
20 | g.32436323G= | CA2360293644 | ASXL1 | c.3611G= (p.Cys1204=) c.3428G= (p.Cys1143=) n.5964G= c.1869+1742G= (n.1869+1742G=) c.3596G= (p.Cys1199=) c.3608G= (p.Cys1203=) c.3581G= (p.Cys1194=) c.3527G= (p.Cys1176=) c.2927G= (p.Cys976=) c.3875G= (p.Cys1292=) c.3872G= (p.Cys1291=) c.3791G= (p.Cys1264=) c.3722G= (p.Cys1241=) c.3590G= (p.Cys1197=) c.3458G= (p.Cys1153=) | |
20 | g.32436323G>T | CA408563424 | ASXL1 | c.3611G>T (p.Cys1204Phe) c.3428G>T (p.Cys1143Phe) n.5964G>T c.1869+1742G>T (n.1869+1742G>T) c.3596G>T (p.Cys1199Phe) c.3608G>T (p.Cys1203Phe) c.3581G>T (p.Cys1194Phe) c.3527G>T (p.Cys1176Phe) c.2927G>T (p.Cys976Phe) c.3875G>T (p.Cys1292Phe) c.3872G>T (p.Cys1291Phe) c.3791G>T (p.Cys1264Phe) c.3722G>T (p.Cys1241Phe) c.3590G>T (p.Cys1197Phe) c.3458G>T (p.Cys1153Phe) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436324del | CA2842273173 | ASXL1 | c.3612del (p.Cys1204Ter) c.3429del (p.Cys1143Ter) n.5965del c.1869+1743del (n.1869+1743del) c.3597del (p.Cys1199Ter) c.3609del (p.Cys1203Ter) c.3582del (p.Cys1194Ter) c.3528del (p.Cys1176Ter) c.2928del (p.Cys976Ter) c.3876del (p.Cys1292Ter) c.3873del (p.Cys1291Ter) c.3792del (p.Cys1264Ter) c.3723del (p.Cys1241Ter) c.3591del (p.Cys1197Ter) c.3459del (p.Cys1153Ter) | |
20 | g.32436324C>A | CA408563425 | ASXL1 | c.3612C>A (p.Cys1204Ter) c.3429C>A (p.Cys1143Ter) n.5965C>A c.1869+1743C>A (n.1869+1743C>A) c.3597C>A (p.Cys1199Ter) c.3609C>A (p.Cys1203Ter) c.3582C>A (p.Cys1194Ter) c.3528C>A (p.Cys1176Ter) c.2928C>A (p.Cys976Ter) c.3876C>A (p.Cys1292Ter) c.3873C>A (p.Cys1291Ter) c.3792C>A (p.Cys1264Ter) c.3723C>A (p.Cys1241Ter) c.3591C>A (p.Cys1197Ter) c.3459C>A (p.Cys1153Ter) | |
20 | g.32436324C= | CA2360293645 | ASXL1 | c.3612C= (p.Cys1204=) c.3429C= (p.Cys1143=) n.5965C= c.1869+1743C= (n.1869+1743C=) c.3597C= (p.Cys1199=) c.3609C= (p.Cys1203=) c.3582C= (p.Cys1194=) c.3528C= (p.Cys1176=) c.2928C= (p.Cys976=) c.3876C= (p.Cys1292=) c.3873C= (p.Cys1291=) c.3792C= (p.Cys1264=) c.3723C= (p.Cys1241=) c.3591C= (p.Cys1197=) c.3459C= (p.Cys1153=) | |
20 | g.32436324C>G | CA9808862 | ASXL1 | c.3612C>G (p.Cys1204Trp) c.3429C>G (p.Cys1143Trp) n.5965C>G c.1869+1743C>G (n.1869+1743C>G) c.3597C>G (p.Cys1199Trp) c.3609C>G (p.Cys1203Trp) c.3582C>G (p.Cys1194Trp) c.3528C>G (p.Cys1176Trp) c.2928C>G (p.Cys976Trp) c.3876C>G (p.Cys1292Trp) c.3873C>G (p.Cys1291Trp) c.3792C>G (p.Cys1264Trp) c.3723C>G (p.Cys1241Trp) c.3591C>G (p.Cys1197Trp) c.3459C>G (p.Cys1153Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436324C>T | CA510467359 | ASXL1 | c.3612C>T (p.Cys1204=) c.3429C>T (p.Cys1143=) n.5965C>T c.1869+1743C>T (n.1869+1743C>T) c.3597C>T (p.Cys1199=) c.3609C>T (p.Cys1203=) c.3582C>T (p.Cys1194=) c.3528C>T (p.Cys1176=) c.2928C>T (p.Cys976=) c.3876C>T (p.Cys1292=) c.3873C>T (p.Cys1291=) c.3792C>T (p.Cys1264=) c.3723C>T (p.Cys1241=) c.3591C>T (p.Cys1197=) c.3459C>T (p.Cys1153=) | dbSNP |
20 | g.32436325A>C | CA408563426 | ASXL1 | c.3613A>C (p.Lys1205Gln) c.3430A>C (p.Lys1144Gln) n.5966A>C c.1869+1744A>C (n.1869+1744A>C) c.3598A>C (p.Lys1200Gln) c.3610A>C (p.Lys1204Gln) c.3583A>C (p.Lys1195Gln) c.3529A>C (p.Lys1177Gln) c.2929A>C (p.Lys977Gln) c.3877A>C (p.Lys1293Gln) c.3874A>C (p.Lys1292Gln) c.3793A>C (p.Lys1265Gln) c.3724A>C (p.Lys1242Gln) c.3592A>C (p.Lys1198Gln) c.3460A>C (p.Lys1154Gln) | |
20 | g.32436325A>G | CA408563427 | ASXL1 | c.3613A>G (p.Lys1205Glu) c.3430A>G (p.Lys1144Glu) n.5966A>G c.1869+1744A>G (n.1869+1744A>G) c.3598A>G (p.Lys1200Glu) c.3610A>G (p.Lys1204Glu) c.3583A>G (p.Lys1195Glu) c.3529A>G (p.Lys1177Glu) c.2929A>G (p.Lys977Glu) c.3877A>G (p.Lys1293Glu) c.3874A>G (p.Lys1292Glu) c.3793A>G (p.Lys1265Glu) c.3724A>G (p.Lys1242Glu) c.3592A>G (p.Lys1198Glu) c.3460A>G (p.Lys1154Glu) | |
20 | g.32436325A>T | CA408563428 | ASXL1 | c.3613A>T (p.Lys1205Ter) c.3430A>T (p.Lys1144Ter) n.5966A>T c.1869+1744A>T (n.1869+1744A>T) c.3598A>T (p.Lys1200Ter) c.3610A>T (p.Lys1204Ter) c.3583A>T (p.Lys1195Ter) c.3529A>T (p.Lys1177Ter) c.2929A>T (p.Lys977Ter) c.3877A>T (p.Lys1293Ter) c.3874A>T (p.Lys1292Ter) c.3793A>T (p.Lys1265Ter) c.3724A>T (p.Lys1242Ter) c.3592A>T (p.Lys1198Ter) c.3460A>T (p.Lys1154Ter) | |
20 | g.32436326A= | CA2360293646 | ASXL1 | c.3614A= (p.Lys1205=) c.3431A= (p.Lys1144=) n.5967A= c.1869+1745A= (n.1869+1745A=) c.3599A= (p.Lys1200=) c.3611A= (p.Lys1204=) c.3584A= (p.Lys1195=) c.3530A= (p.Lys1177=) c.2930A= (p.Lys977=) c.3878A= (p.Lys1293=) c.3875A= (p.Lys1292=) c.3794A= (p.Lys1265=) c.3725A= (p.Lys1242=) c.3593A= (p.Lys1198=) c.3461A= (p.Lys1154=) | |
20 | g.32436326A>C | CA408563429 | ASXL1 | c.3614A>C (p.Lys1205Thr) c.3431A>C (p.Lys1144Thr) n.5967A>C c.1869+1745A>C (n.1869+1745A>C) c.3599A>C (p.Lys1200Thr) c.3611A>C (p.Lys1204Thr) c.3584A>C (p.Lys1195Thr) c.3530A>C (p.Lys1177Thr) c.2930A>C (p.Lys977Thr) c.3878A>C (p.Lys1293Thr) c.3875A>C (p.Lys1292Thr) c.3794A>C (p.Lys1265Thr) c.3725A>C (p.Lys1242Thr) c.3593A>C (p.Lys1198Thr) c.3461A>C (p.Lys1154Thr) | |
20 | g.32436326A>G | CA408563430 | ASXL1 | c.3614A>G (p.Lys1205Arg) c.3431A>G (p.Lys1144Arg) n.5967A>G c.1869+1745A>G (n.1869+1745A>G) c.3599A>G (p.Lys1200Arg) c.3611A>G (p.Lys1204Arg) c.3584A>G (p.Lys1195Arg) c.3530A>G (p.Lys1177Arg) c.2930A>G (p.Lys977Arg) c.3878A>G (p.Lys1293Arg) c.3875A>G (p.Lys1292Arg) c.3794A>G (p.Lys1265Arg) c.3725A>G (p.Lys1242Arg) c.3593A>G (p.Lys1198Arg) c.3461A>G (p.Lys1154Arg) | dbSNP |
20 | g.32436326A>T | CA408563431 | ASXL1 | c.3614A>T (p.Lys1205Met) c.3431A>T (p.Lys1144Met) n.5967A>T c.1869+1745A>T (n.1869+1745A>T) c.3599A>T (p.Lys1200Met) c.3611A>T (p.Lys1204Met) c.3584A>T (p.Lys1195Met) c.3530A>T (p.Lys1177Met) c.2930A>T (p.Lys977Met) c.3878A>T (p.Lys1293Met) c.3875A>T (p.Lys1292Met) c.3794A>T (p.Lys1265Met) c.3725A>T (p.Lys1242Met) c.3593A>T (p.Lys1198Met) c.3461A>T (p.Lys1154Met) | |
20 | g.32436327G>A | CA510467360 | ASXL1 | c.3615G>A (p.Lys1205=) c.3432G>A (p.Lys1144=) n.5968G>A c.1869+1746G>A (n.1869+1746G>A) c.3600G>A (p.Lys1200=) c.3612G>A (p.Lys1204=) c.3585G>A (p.Lys1195=) c.3531G>A (p.Lys1177=) c.2931G>A (p.Lys977=) c.3879G>A (p.Lys1293=) c.3876G>A (p.Lys1292=) c.3795G>A (p.Lys1265=) c.3726G>A (p.Lys1242=) c.3594G>A (p.Lys1198=) c.3462G>A (p.Lys1154=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436327G>C | CA408563433 | ASXL1 | c.3615G>C (p.Lys1205Asn) c.3432G>C (p.Lys1144Asn) n.5968G>C c.1869+1746G>C (n.1869+1746G>C) c.3600G>C (p.Lys1200Asn) c.3612G>C (p.Lys1204Asn) c.3585G>C (p.Lys1195Asn) c.3531G>C (p.Lys1177Asn) c.2931G>C (p.Lys977Asn) c.3879G>C (p.Lys1293Asn) c.3876G>C (p.Lys1292Asn) c.3795G>C (p.Lys1265Asn) c.3726G>C (p.Lys1242Asn) c.3594G>C (p.Lys1198Asn) c.3462G>C (p.Lys1154Asn) | |
20 | g.32436327G= | CA2360293647 | ASXL1 | c.3615G= (p.Lys1205=) c.3432G= (p.Lys1144=) n.5968G= c.1869+1746G= (n.1869+1746G=) c.3600G= (p.Lys1200=) c.3612G= (p.Lys1204=) c.3585G= (p.Lys1195=) c.3531G= (p.Lys1177=) c.2931G= (p.Lys977=) c.3879G= (p.Lys1293=) c.3876G= (p.Lys1292=) c.3795G= (p.Lys1265=) c.3726G= (p.Lys1242=) c.3594G= (p.Lys1198=) c.3462G= (p.Lys1154=) | |
20 | g.32436327G>T | CA408563432 | ASXL1 | c.3615G>T (p.Lys1205Asn) c.3432G>T (p.Lys1144Asn) n.5968G>T c.1869+1746G>T (n.1869+1746G>T) c.3600G>T (p.Lys1200Asn) c.3612G>T (p.Lys1204Asn) c.3585G>T (p.Lys1195Asn) c.3531G>T (p.Lys1177Asn) c.2931G>T (p.Lys977Asn) c.3879G>T (p.Lys1293Asn) c.3876G>T (p.Lys1292Asn) c.3795G>T (p.Lys1265Asn) c.3726G>T (p.Lys1242Asn) c.3594G>T (p.Lys1198Asn) c.3462G>T (p.Lys1154Asn) | |
20 | g.32436328G>A | CA9808863 | ASXL1 | c.3616G>A (p.Ala1206Thr) c.3433G>A (p.Ala1145Thr) n.5969G>A c.1869+1747G>A (n.1869+1747G>A) c.3601G>A (p.Ala1201Thr) c.3613G>A (p.Ala1205Thr) c.3586G>A (p.Ala1196Thr) c.3532G>A (p.Ala1178Thr) c.2932G>A (p.Ala978Thr) c.3880G>A (p.Ala1294Thr) c.3877G>A (p.Ala1293Thr) c.3796G>A (p.Ala1266Thr) c.3727G>A (p.Ala1243Thr) c.3595G>A (p.Ala1199Thr) c.3463G>A (p.Ala1155Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436328G>C | CA408563434 | ASXL1 | c.3616G>C (p.Ala1206Pro) c.3433G>C (p.Ala1145Pro) n.5969G>C c.1869+1747G>C (n.1869+1747G>C) c.3601G>C (p.Ala1201Pro) c.3613G>C (p.Ala1205Pro) c.3586G>C (p.Ala1196Pro) c.3532G>C (p.Ala1178Pro) c.2932G>C (p.Ala978Pro) c.3880G>C (p.Ala1294Pro) c.3877G>C (p.Ala1293Pro) c.3796G>C (p.Ala1266Pro) c.3727G>C (p.Ala1243Pro) c.3595G>C (p.Ala1199Pro) c.3463G>C (p.Ala1155Pro) | |
20 | g.32436328G= | CA2360293648 | ASXL1 | c.3616G= (p.Ala1206=) c.3433G= (p.Ala1145=) n.5969G= c.1869+1747G= (n.1869+1747G=) c.3601G= (p.Ala1201=) c.3613G= (p.Ala1205=) c.3586G= (p.Ala1196=) c.3532G= (p.Ala1178=) c.2932G= (p.Ala978=) c.3880G= (p.Ala1294=) c.3877G= (p.Ala1293=) c.3796G= (p.Ala1266=) c.3727G= (p.Ala1243=) c.3595G= (p.Ala1199=) c.3463G= (p.Ala1155=) | |
20 | g.32436328G>T | CA408563435 | ASXL1 | c.3616G>T (p.Ala1206Ser) c.3433G>T (p.Ala1145Ser) n.5969G>T c.1869+1747G>T (n.1869+1747G>T) c.3601G>T (p.Ala1201Ser) c.3613G>T (p.Ala1205Ser) c.3586G>T (p.Ala1196Ser) c.3532G>T (p.Ala1178Ser) c.2932G>T (p.Ala978Ser) c.3880G>T (p.Ala1294Ser) c.3877G>T (p.Ala1293Ser) c.3796G>T (p.Ala1266Ser) c.3727G>T (p.Ala1243Ser) c.3595G>T (p.Ala1199Ser) c.3463G>T (p.Ala1155Ser) | |
20 | g.32436329_32436338del | CA645612967 | ASXL1 | c.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 |
20 | g.32436329C>A | CA408563436 | ASXL1 | c.3617C>A (p.Ala1206Glu) c.3434C>A (p.Ala1145Glu) n.5970C>A c.1869+1748C>A (n.1869+1748C>A) c.3602C>A (p.Ala1201Glu) c.3614C>A (p.Ala1205Glu) c.3587C>A (p.Ala1196Glu) c.3533C>A (p.Ala1178Glu) c.2933C>A (p.Ala978Glu) c.3881C>A (p.Ala1294Glu) c.3878C>A (p.Ala1293Glu) c.3797C>A (p.Ala1266Glu) c.3728C>A (p.Ala1243Glu) c.3596C>A (p.Ala1199Glu) c.3464C>A (p.Ala1155Glu) | |
20 | g.32436329C= | CA2360293649 | ASXL1 | c.3617C= (p.Ala1206=) c.3434C= (p.Ala1145=) n.5970C= c.1869+1748C= (n.1869+1748C=) c.3602C= (p.Ala1201=) c.3614C= (p.Ala1205=) c.3587C= (p.Ala1196=) c.3533C= (p.Ala1178=) c.2933C= (p.Ala978=) c.3881C= (p.Ala1294=) c.3878C= (p.Ala1293=) c.3797C= (p.Ala1266=) c.3728C= (p.Ala1243=) c.3596C= (p.Ala1199=) c.3464C= (p.Ala1155=) | |
20 | g.32436329C>G | CA408563437 | ASXL1 | c.3617C>G (p.Ala1206Gly) c.3434C>G (p.Ala1145Gly) n.5970C>G c.1869+1748C>G (n.1869+1748C>G) c.3602C>G (p.Ala1201Gly) c.3614C>G (p.Ala1205Gly) c.3587C>G (p.Ala1196Gly) c.3533C>G (p.Ala1178Gly) c.2933C>G (p.Ala978Gly) c.3881C>G (p.Ala1294Gly) c.3878C>G (p.Ala1293Gly) c.3797C>G (p.Ala1266Gly) c.3728C>G (p.Ala1243Gly) c.3596C>G (p.Ala1199Gly) c.3464C>G (p.Ala1155Gly) | |
20 | g.32436329C>T | CA408563438 | ASXL1 | c.3617C>T (p.Ala1206Val) c.3434C>T (p.Ala1145Val) n.5970C>T c.1869+1748C>T (n.1869+1748C>T) c.3602C>T (p.Ala1201Val) c.3614C>T (p.Ala1205Val) c.3587C>T (p.Ala1196Val) c.3533C>T (p.Ala1178Val) c.2933C>T (p.Ala978Val) c.3881C>T (p.Ala1294Val) c.3878C>T (p.Ala1293Val) c.3797C>T (p.Ala1266Val) c.3728C>T (p.Ala1243Val) c.3596C>T (p.Ala1199Val) c.3464C>T (p.Ala1155Val) | dbSNP gnomAD v4 |
20 | g.32436330A>C | CA510467361 | ASXL1 | c.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=) | |
20 | g.32436330A>G | CA510467362 | ASXL1 | c.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=) | |
20 | g.32436330A>T | CA510467363 | ASXL1 | c.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=) | |
20 | g.32436331G>A | CA408563441 | ASXL1 | c.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) | |
20 | g.32436331G>C | CA408563439 | ASXL1 | c.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 |
20 | g.32436331G>T | CA408563440 | ASXL1 | c.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 |
20 | g.32436332T>A | CA408563442 | ASXL1 | c.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 |
20 | g.32436332T>C | CA408563443 | ASXL1 | c.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) | |
20 | g.32436332T>G | CA408563444 | ASXL1 | c.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) | |
20 | g.32436333C>A | CA510467364 | ASXL1 | c.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=) | |
20 | g.32436333C= | CA2360293650 | ASXL1 | c.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=) | |
20 | g.32436333C>G | CA9808864 | ASXL1 | c.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 |
20 | g.32436333C>T | CA510467365 | ASXL1 | c.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=) | |
20 | g.32436334C>A | CA408563445 | ASXL1 | c.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) | |
20 | g.32436334C>G | CA408563446 | ASXL1 | c.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) | |
20 | g.32436334C>T | CA408563447 | ASXL1 | c.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 |
20 | g.32436335C>A | CA408563448 | ASXL1 | c.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) | |
20 | g.32436335C= | CA2360293651 | ASXL1 | c.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=) | |
20 | g.32436335C>G | CA408563449 | ASXL1 | c.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) | |
20 | g.32436335C>T | CA9808865 | ASXL1 | c.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 |
20 | g.32436336A= | CA2360293652 | ASXL1 | c.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=) | |
20 | g.32436336A>C | CA510467367 | ASXL1 | c.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=) | |
20 | g.32436336A>G | CA510467368 | ASXL1 | c.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 |
20 | g.32436336A>T | CA510467366 | ASXL1 | c.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=) | |
20 | g.32436337dup | CA2838759595 | ASXL1 | c.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) | |
20 | g.32436337A>C | CA408563450 | ASXL1 | c.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) | |
20 | g.32436337A>G | CA408563451 | ASXL1 | c.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) | |
20 | g.32436337A>T | CA408563452 | ASXL1 | c.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) | |
20 | g.32436338G>A | CA408563453 | ASXL1 | c.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 |
20 | g.32436338G>C | CA408563455 | ASXL1 | c.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) | |
20 | g.32436338G>T | CA408563454 | ASXL1 | c.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 |
20 | g.32436339T>A | CA408563456 | ASXL1 | c.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 |
20 | g.32436339T>C | CA510467369 | ASXL1 | c.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=) | |
20 | g.32436339T>G | CA408563457 | ASXL1 | c.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) | |
20 | g.32436340T>A | CA408563458 | ASXL1 | c.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) | |
20 | g.32436340T>C | CA408563459 | ASXL1 | c.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) | |
20 | g.32436340T>G | CA408563460 | ASXL1 | c.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 |
20 | g.32436341T>A | CA408563461 | ASXL1 | c.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) | |
20 | g.32436341T>C | CA408563462 | ASXL1 | c.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) | |
20 | g.32436341T>G | CA408563463 | ASXL1 | c.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) | |
20 | g.32436342T>A | CA408563464 | ASXL1 | c.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) | |
20 | g.32436342T>C | CA9808866 | ASXL1 | c.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 |
20 | g.32436342T>G | CA408563465 | ASXL1 | c.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) | |
20 | g.32436342T= | CA2360293653 | ASXL1 | c.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=) | |
20 | g.32436343G>A | CA408563466 | ASXL1 | c.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) | |
20 | g.32436343G>C | CA408563467 | ASXL1 | c.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) | |
20 | g.32436343G>T | CA408563468 | ASXL1 | c.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 |
20 | g.32436344del | CA645612968 | ASXL1 | c.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 |
20 | g.32436344A>C | CA408563471 | ASXL1 | c.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) | |
20 | g.32436344A>G | CA408563470 | ASXL1 | c.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) | |
20 | g.32436344A>T | CA408563469 | ASXL1 | c.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 |
20 | g.32436344_32436348delinsACTCC | CA2360293654 | ASXL1 | c.3632_3636delinsACTCC (p.Asp1211=) c.3449_3453delinsACTCC (p.Asp1150=) n.5985_5989delinsACTCC c.1869+1763_1869+1767delinsACTCC (n.1869+1763_1869+1767delinsACTCC) c.3617_3621delinsACTCC (p.Asp1206=) c.3629_3633delinsACTCC (p.Asp1210=) c.3602_3606delinsACTCC (p.Asp1201=) c.3548_3552delinsACTCC (p.Asp1183=) c.2948_2952delinsACTCC (p.Asp983=) c.3896_3900delinsACTCC (p.Asp1299=) c.3893_3897delinsACTCC (p.Asp1298=) c.3812_3816delinsACTCC (p.Asp1271=) c.3743_3747delinsACTCC (p.Asp1248=) c.3611_3615delinsACTCC (p.Asp1204=) c.3479_3483delinsACTCC (p.Asp1160=) | |
20 | g.32436345C>A | CA408563472 | ASXL1 | c.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 |
20 | g.32436345C= | CA2360293655 | ASXL1 | c.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=) | |
20 | g.32436345C>G | CA408563473 | ASXL1 | c.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) | |
20 | g.32436345C>T | CA9808867 | ASXL1 | c.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 |
20 | g.32436349_32436352dup | CA2577366315 | ASXL1 | c.3637_3640dup (p.His1214ProfsTer12) c.3454_3457dup (p.His1153ProfsTer12) n.5990_5993dup c.1869+1768_1869+1771dup (n.1869+1768_1869+1771dup) c.3622_3625dup (p.His1209ProfsTer12) c.3634_3637dup (p.His1213ProfsTer12) c.3607_3610dup (p.His1204ProfsTer12) c.3553_3556dup (p.His1186ProfsTer12) c.2953_2956dup (p.His986ProfsTer12) c.3901_3904dup (p.His1302ProfsTer12) c.3898_3901dup (p.His1301ProfsTer12) c.3817_3820dup (p.His1274ProfsTer12) c.3748_3751dup (p.His1251ProfsTer12) c.3616_3619dup (p.His1207ProfsTer12) c.3484_3487dup (p.His1163ProfsTer12) | |
20 | g.32436349_32436352del | CA645612969 | ASXL1 | c.3637_3640del (p.Leu1213IlefsTer3) c.3454_3457del (p.Leu1152IlefsTer3) n.5990_5993del c.1869+1768_1869+1771del (n.1869+1768_1869+1771del) c.3622_3625del (p.Leu1208IlefsTer3) c.3634_3637del (p.Leu1212IlefsTer3) c.3607_3610del (p.Leu1203IlefsTer3) c.3553_3556del (p.Leu1185IlefsTer3) c.2953_2956del (p.Leu985IlefsTer3) c.3901_3904del (p.Leu1301IlefsTer3) c.3898_3901del (p.Leu1300IlefsTer3) c.3817_3820del (p.Leu1273IlefsTer3) c.3748_3751del (p.Leu1250IlefsTer3) c.3616_3619del (p.Leu1206IlefsTer3) c.3484_3487del (p.Leu1162IlefsTer3) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
20 | g.32436346T>A | CA408563474 | ASXL1 | c.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) | |
20 | g.32436346T>C | CA408563475 | ASXL1 | c.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 |
20 | g.32436346T>G | CA408563476 | ASXL1 | c.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) | |
20 | g.32436346T= | CA2360293657 | ASXL1 | c.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=) | |
20 | g.32436346_32436347delinsTC | CA2360293656 | ASXL1 | c.3634_3635delinsTC (p.Ser1212=) c.3451_3452delinsTC (p.Ser1151=) n.5987_5988delinsTC c.1869+1765_1869+1766delinsTC (n.1869+1765_1869+1766delinsTC) c.3619_3620delinsTC (p.Ser1207=) c.3631_3632delinsTC (p.Ser1211=) c.3604_3605delinsTC (p.Ser1202=) c.3550_3551delinsTC (p.Ser1184=) c.2950_2951delinsTC (p.Ser984=) c.3898_3899delinsTC (p.Ser1300=) c.3895_3896delinsTC (p.Ser1299=) c.3814_3815delinsTC (p.Ser1272=) c.3745_3746delinsTC (p.Ser1249=) c.3613_3614delinsTC (p.Ser1205=) c.3481_3482delinsTC (p.Ser1161=) | |
20 | g.32436347C>A | CA408563477 | ASXL1 | c.3635C>A (p.Ser1212Tyr) c.3452C>A (p.Ser1151Tyr) n.5988C>A c.1869+1766C>A (n.1869+1766C>A) c.3620C>A (p.Ser1207Tyr) c.3632C>A (p.Ser1211Tyr) c.3605C>A (p.Ser1202Tyr) c.3551C>A (p.Ser1184Tyr) c.2951C>A (p.Ser984Tyr) c.3899C>A (p.Ser1300Tyr) c.3896C>A (p.Ser1299Tyr) c.3815C>A (p.Ser1272Tyr) c.3746C>A (p.Ser1249Tyr) c.3614C>A (p.Ser1205Tyr) c.3482C>A (p.Ser1161Tyr) | |
20 | g.32436347C= | CA2360293658 | ASXL1 | c.3635C= (p.Ser1212=) c.3452C= (p.Ser1151=) n.5988C= c.1869+1766C= (n.1869+1766C=) c.3620C= (p.Ser1207=) c.3632C= (p.Ser1211=) c.3605C= (p.Ser1202=) c.3551C= (p.Ser1184=) c.2951C= (p.Ser984=) c.3899C= (p.Ser1300=) c.3896C= (p.Ser1299=) c.3815C= (p.Ser1272=) c.3746C= (p.Ser1249=) c.3614C= (p.Ser1205=) c.3482C= (p.Ser1161=) | |
20 | g.32436347C>G | CA408563478 | ASXL1 | c.3635C>G (p.Ser1212Cys) c.3452C>G (p.Ser1151Cys) n.5988C>G c.1869+1766C>G (n.1869+1766C>G) c.3620C>G (p.Ser1207Cys) c.3632C>G (p.Ser1211Cys) c.3605C>G (p.Ser1202Cys) c.3551C>G (p.Ser1184Cys) c.2951C>G (p.Ser984Cys) c.3899C>G (p.Ser1300Cys) c.3896C>G (p.Ser1299Cys) c.3815C>G (p.Ser1272Cys) c.3746C>G (p.Ser1249Cys) c.3614C>G (p.Ser1205Cys) c.3482C>G (p.Ser1161Cys) | gnomAD v4 |
20 | g.32436347C>T | CA236150 | ASXL1 | c.3635C>T (p.Ser1212Phe) c.3452C>T (p.Ser1151Phe) n.5988C>T c.1869+1766C>T (n.1869+1766C>T) c.3620C>T (p.Ser1207Phe) c.3632C>T (p.Ser1211Phe) c.3605C>T (p.Ser1202Phe) c.3551C>T (p.Ser1184Phe) c.2951C>T (p.Ser984Phe) c.3899C>T (p.Ser1300Phe) c.3896C>T (p.Ser1299Phe) c.3815C>T (p.Ser1272Phe) c.3746C>T (p.Ser1249Phe) c.3614C>T (p.Ser1205Phe) c.3482C>T (p.Ser1161Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.32436349del | CA645612970 | ASXL1 | c.3637del (p.Leu1213SerfsTer4) c.3454del (p.Leu1152SerfsTer4) n.5990del c.1869+1768del (n.1869+1768del) c.3622del (p.Leu1208SerfsTer4) c.3634del (p.Leu1212SerfsTer4) c.3607del (p.Leu1203SerfsTer4) c.3553del (p.Leu1185SerfsTer4) c.2953del (p.Leu985SerfsTer4) c.3901del (p.Leu1301SerfsTer4) c.3898del (p.Leu1300SerfsTer4) c.3817del (p.Leu1273SerfsTer4) c.3748del (p.Leu1250SerfsTer4) c.3616del (p.Leu1206SerfsTer4) c.3484del (p.Leu1162SerfsTer4) | ClinVar dbSNP COSMIC COSMIC |
20 | g.32436348C>A | CA510467370 | ASXL1 | c.3636C>A (p.Ser1212=) c.3453C>A (p.Ser1151=) n.5989C>A c.1869+1767C>A (n.1869+1767C>A) c.3621C>A (p.Ser1207=) c.3633C>A (p.Ser1211=) c.3606C>A (p.Ser1202=) c.3552C>A (p.Ser1184=) c.2952C>A (p.Ser984=) c.3900C>A (p.Ser1300=) c.3897C>A (p.Ser1299=) c.3816C>A (p.Ser1272=) c.3747C>A (p.Ser1249=) c.3615C>A (p.Ser1205=) c.3483C>A (p.Ser1161=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436348C= | CA2360293659 | ASXL1 | c.3636C= (p.Ser1212=) c.3453C= (p.Ser1151=) n.5989C= c.1869+1767C= (n.1869+1767C=) c.3621C= (p.Ser1207=) c.3633C= (p.Ser1211=) c.3606C= (p.Ser1202=) c.3552C= (p.Ser1184=) c.2952C= (p.Ser984=) c.3900C= (p.Ser1300=) c.3897C= (p.Ser1299=) c.3816C= (p.Ser1272=) c.3747C= (p.Ser1249=) c.3615C= (p.Ser1205=) c.3483C= (p.Ser1161=) | |
20 | g.32436348C>G | CA510467371 | ASXL1 | c.3636C>G (p.Ser1212=) c.3453C>G (p.Ser1151=) n.5989C>G c.1869+1767C>G (n.1869+1767C>G) c.3621C>G (p.Ser1207=) c.3633C>G (p.Ser1211=) c.3606C>G (p.Ser1202=) c.3552C>G (p.Ser1184=) c.2952C>G (p.Ser984=) c.3900C>G (p.Ser1300=) c.3897C>G (p.Ser1299=) c.3816C>G (p.Ser1272=) c.3747C>G (p.Ser1249=) c.3615C>G (p.Ser1205=) c.3483C>G (p.Ser1161=) | |
20 | g.32436348C>T | CA510467372 | ASXL1 | c.3636C>T (p.Ser1212=) c.3453C>T (p.Ser1151=) n.5989C>T c.1869+1767C>T (n.1869+1767C>T) c.3621C>T (p.Ser1207=) c.3633C>T (p.Ser1211=) c.3606C>T (p.Ser1202=) c.3552C>T (p.Ser1184=) c.2952C>T (p.Ser984=) c.3900C>T (p.Ser1300=) c.3897C>T (p.Ser1299=) c.3816C>T (p.Ser1272=) c.3747C>T (p.Ser1249=) c.3615C>T (p.Ser1205=) c.3483C>T (p.Ser1161=) | dbSNP gnomAD v4 |
20 | g.32436349C>A | CA408563479 | ASXL1 | c.3637C>A (p.Leu1213Ile) c.3454C>A (p.Leu1152Ile) n.5990C>A c.1869+1768C>A (n.1869+1768C>A) c.3622C>A (p.Leu1208Ile) c.3634C>A (p.Leu1212Ile) c.3607C>A (p.Leu1203Ile) c.3553C>A (p.Leu1185Ile) c.2953C>A (p.Leu985Ile) c.3901C>A (p.Leu1301Ile) c.3898C>A (p.Leu1300Ile) c.3817C>A (p.Leu1273Ile) c.3748C>A (p.Leu1250Ile) c.3616C>A (p.Leu1206Ile) c.3484C>A (p.Leu1162Ile) | dbSNP |
20 | g.32436349C= | CA2360293660 | ASXL1 | c.3637C= (p.Leu1213=) c.3454C= (p.Leu1152=) n.5990C= c.1869+1768C= (n.1869+1768C=) c.3622C= (p.Leu1208=) c.3634C= (p.Leu1212=) c.3607C= (p.Leu1203=) c.3553C= (p.Leu1185=) c.2953C= (p.Leu985=) c.3901C= (p.Leu1301=) c.3898C= (p.Leu1300=) c.3817C= (p.Leu1273=) c.3748C= (p.Leu1250=) c.3616C= (p.Leu1206=) c.3484C= (p.Leu1162=) | |
20 | g.32436349C>G | CA408563480 | ASXL1 | c.3637C>G (p.Leu1213Val) c.3454C>G (p.Leu1152Val) n.5990C>G c.1869+1768C>G (n.1869+1768C>G) c.3622C>G (p.Leu1208Val) c.3634C>G (p.Leu1212Val) c.3607C>G (p.Leu1203Val) c.3553C>G (p.Leu1185Val) c.2953C>G (p.Leu985Val) c.3901C>G (p.Leu1301Val) c.3898C>G (p.Leu1300Val) c.3817C>G (p.Leu1273Val) c.3748C>G (p.Leu1250Val) c.3616C>G (p.Leu1206Val) c.3484C>G (p.Leu1162Val) | dbSNP gnomAD v4 |
20 | g.32436349C>T | CA408563481 | ASXL1 | c.3637C>T (p.Leu1213Phe) c.3454C>T (p.Leu1152Phe) n.5990C>T c.1869+1768C>T (n.1869+1768C>T) c.3622C>T (p.Leu1208Phe) c.3634C>T (p.Leu1212Phe) c.3607C>T (p.Leu1203Phe) c.3553C>T (p.Leu1185Phe) c.2953C>T (p.Leu985Phe) c.3901C>T (p.Leu1301Phe) c.3898C>T (p.Leu1300Phe) c.3817C>T (p.Leu1273Phe) c.3748C>T (p.Leu1250Phe) c.3616C>T (p.Leu1206Phe) c.3484C>T (p.Leu1162Phe) | gnomAD v4 |
20 | g.32436350T>A | CA408563484 | ASXL1 | c.3638T>A (p.Leu1213His) c.3455T>A (p.Leu1152His) n.5991T>A c.1869+1769T>A (n.1869+1769T>A) c.3623T>A (p.Leu1208His) c.3635T>A (p.Leu1212His) c.3608T>A (p.Leu1203His) c.3554T>A (p.Leu1185His) c.2954T>A (p.Leu985His) c.3902T>A (p.Leu1301His) c.3899T>A (p.Leu1300His) c.3818T>A (p.Leu1273His) c.3749T>A (p.Leu1250His) c.3617T>A (p.Leu1206His) c.3485T>A (p.Leu1162His) | |
20 | g.32436350T>C | CA408563483 | ASXL1 | c.3638T>C (p.Leu1213Pro) c.3455T>C (p.Leu1152Pro) n.5991T>C c.1869+1769T>C (n.1869+1769T>C) c.3623T>C (p.Leu1208Pro) c.3635T>C (p.Leu1212Pro) c.3608T>C (p.Leu1203Pro) c.3554T>C (p.Leu1185Pro) c.2954T>C (p.Leu985Pro) c.3902T>C (p.Leu1301Pro) c.3899T>C (p.Leu1300Pro) c.3818T>C (p.Leu1273Pro) c.3749T>C (p.Leu1250Pro) c.3617T>C (p.Leu1206Pro) c.3485T>C (p.Leu1162Pro) | |
20 | g.32436350T>G | CA408563482 | ASXL1 | c.3638T>G (p.Leu1213Arg) c.3455T>G (p.Leu1152Arg) n.5991T>G c.1869+1769T>G (n.1869+1769T>G) c.3623T>G (p.Leu1208Arg) c.3635T>G (p.Leu1212Arg) c.3608T>G (p.Leu1203Arg) c.3554T>G (p.Leu1185Arg) c.2954T>G (p.Leu985Arg) c.3902T>G (p.Leu1301Arg) c.3899T>G (p.Leu1300Arg) c.3818T>G (p.Leu1273Arg) c.3749T>G (p.Leu1250Arg) c.3617T>G (p.Leu1206Arg) c.3485T>G (p.Leu1162Arg) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436350T= | CA2360293661 | ASXL1 | c.3638T= (p.Leu1213=) c.3455T= (p.Leu1152=) n.5991T= c.1869+1769T= (n.1869+1769T=) c.3623T= (p.Leu1208=) c.3635T= (p.Leu1212=) c.3608T= (p.Leu1203=) c.3554T= (p.Leu1185=) c.2954T= (p.Leu985=) c.3902T= (p.Leu1301=) c.3899T= (p.Leu1300=) c.3818T= (p.Leu1273=) c.3749T= (p.Leu1250=) c.3617T= (p.Leu1206=) c.3485T= (p.Leu1162=) | |
20 | g.32436351C>A | CA510467373 | ASXL1 | c.3639C>A (p.Leu1213=) c.3456C>A (p.Leu1152=) n.5992C>A c.1869+1770C>A (n.1869+1770C>A) c.3624C>A (p.Leu1208=) c.3636C>A (p.Leu1212=) c.3609C>A (p.Leu1203=) c.3555C>A (p.Leu1185=) c.2955C>A (p.Leu985=) c.3903C>A (p.Leu1301=) c.3900C>A (p.Leu1300=) c.3819C>A (p.Leu1273=) c.3750C>A (p.Leu1250=) c.3618C>A (p.Leu1206=) c.3486C>A (p.Leu1162=) | dbSNP |
20 | g.32436351C= | CA2360293662 | ASXL1 | c.3639C= (p.Leu1213=) c.3456C= (p.Leu1152=) n.5992C= c.1869+1770C= (n.1869+1770C=) c.3624C= (p.Leu1208=) c.3636C= (p.Leu1212=) c.3609C= (p.Leu1203=) c.3555C= (p.Leu1185=) c.2955C= (p.Leu985=) c.3903C= (p.Leu1301=) c.3900C= (p.Leu1300=) c.3819C= (p.Leu1273=) c.3750C= (p.Leu1250=) c.3618C= (p.Leu1206=) c.3486C= (p.Leu1162=) | |
20 | g.32436351C>G | CA510467374 | ASXL1 | c.3639C>G (p.Leu1213=) c.3456C>G (p.Leu1152=) n.5992C>G c.1869+1770C>G (n.1869+1770C>G) c.3624C>G (p.Leu1208=) c.3636C>G (p.Leu1212=) c.3609C>G (p.Leu1203=) c.3555C>G (p.Leu1185=) c.2955C>G (p.Leu985=) c.3903C>G (p.Leu1301=) c.3900C>G (p.Leu1300=) c.3819C>G (p.Leu1273=) c.3750C>G (p.Leu1250=) c.3618C>G (p.Leu1206=) c.3486C>G (p.Leu1162=) | |
20 | g.32436351C>T | CA510467375 | ASXL1 | c.3639C>T (p.Leu1213=) c.3456C>T (p.Leu1152=) n.5992C>T c.1869+1770C>T (n.1869+1770C>T) c.3624C>T (p.Leu1208=) c.3636C>T (p.Leu1212=) c.3609C>T (p.Leu1203=) c.3555C>T (p.Leu1185=) c.2955C>T (p.Leu985=) c.3903C>T (p.Leu1301=) c.3900C>T (p.Leu1300=) c.3819C>T (p.Leu1273=) c.3750C>T (p.Leu1250=) c.3618C>T (p.Leu1206=) c.3486C>T (p.Leu1162=) | dbSNP |
20 | g.32436352C>A | CA408563485 | ASXL1 | c.3640C>A (p.His1214Asn) c.3457C>A (p.His1153Asn) n.5993C>A c.1869+1771C>A (n.1869+1771C>A) c.3625C>A (p.His1209Asn) c.3637C>A (p.His1213Asn) c.3610C>A (p.His1204Asn) c.3556C>A (p.His1186Asn) c.2956C>A (p.His986Asn) c.3904C>A (p.His1302Asn) c.3901C>A (p.His1301Asn) c.3820C>A (p.His1274Asn) c.3751C>A (p.His1251Asn) c.3619C>A (p.His1207Asn) c.3487C>A (p.His1163Asn) | |
20 | g.32436352C>G | CA408563486 | ASXL1 | c.3640C>G (p.His1214Asp) c.3457C>G (p.His1153Asp) n.5993C>G c.1869+1771C>G (n.1869+1771C>G) c.3625C>G (p.His1209Asp) c.3637C>G (p.His1213Asp) c.3610C>G (p.His1204Asp) c.3556C>G (p.His1186Asp) c.2956C>G (p.His986Asp) c.3904C>G (p.His1302Asp) c.3901C>G (p.His1301Asp) c.3820C>G (p.His1274Asp) c.3751C>G (p.His1251Asp) c.3619C>G (p.His1207Asp) c.3487C>G (p.His1163Asp) | |
20 | g.32436352C>T | CA408563487 | ASXL1 | c.3640C>T (p.His1214Tyr) c.3457C>T (p.His1153Tyr) n.5993C>T c.1869+1771C>T (n.1869+1771C>T) c.3625C>T (p.His1209Tyr) c.3637C>T (p.His1213Tyr) c.3610C>T (p.His1204Tyr) c.3556C>T (p.His1186Tyr) c.2956C>T (p.His986Tyr) c.3904C>T (p.His1302Tyr) c.3901C>T (p.His1301Tyr) c.3820C>T (p.His1274Tyr) c.3751C>T (p.His1251Tyr) c.3619C>T (p.His1207Tyr) c.3487C>T (p.His1163Tyr) | |
20 | g.32436353A>C | CA408563488 | ASXL1 | c.3641A>C (p.His1214Pro) c.3458A>C (p.His1153Pro) n.5994A>C c.1869+1772A>C (n.1869+1772A>C) c.3626A>C (p.His1209Pro) c.3638A>C (p.His1213Pro) c.3611A>C (p.His1204Pro) c.3557A>C (p.His1186Pro) c.2957A>C (p.His986Pro) c.3905A>C (p.His1302Pro) c.3902A>C (p.His1301Pro) c.3821A>C (p.His1274Pro) c.3752A>C (p.His1251Pro) c.3620A>C (p.His1207Pro) c.3488A>C (p.His1163Pro) | |
20 | g.32436353A>G | CA408563489 | ASXL1 | c.3641A>G (p.His1214Arg) c.3458A>G (p.His1153Arg) n.5994A>G c.1869+1772A>G (n.1869+1772A>G) c.3626A>G (p.His1209Arg) c.3638A>G (p.His1213Arg) c.3611A>G (p.His1204Arg) c.3557A>G (p.His1186Arg) c.2957A>G (p.His986Arg) c.3905A>G (p.His1302Arg) c.3902A>G (p.His1301Arg) c.3821A>G (p.His1274Arg) c.3752A>G (p.His1251Arg) c.3620A>G (p.His1207Arg) c.3488A>G (p.His1163Arg) | |
20 | g.32436353A>T | CA408563490 | ASXL1 | c.3641A>T (p.His1214Leu) c.3458A>T (p.His1153Leu) n.5994A>T c.1869+1772A>T (n.1869+1772A>T) c.3626A>T (p.His1209Leu) c.3638A>T (p.His1213Leu) c.3611A>T (p.His1204Leu) c.3557A>T (p.His1186Leu) c.2957A>T (p.His986Leu) c.3905A>T (p.His1302Leu) c.3902A>T (p.His1301Leu) c.3821A>T (p.His1274Leu) c.3752A>T (p.His1251Leu) c.3620A>T (p.His1207Leu) c.3488A>T (p.His1163Leu) | |
20 | g.32436354T>A | CA408563492 | ASXL1 | c.3642T>A (p.His1214Gln) c.3459T>A (p.His1153Gln) n.5995T>A c.1869+1773T>A (n.1869+1773T>A) c.3627T>A (p.His1209Gln) c.3639T>A (p.His1213Gln) c.3612T>A (p.His1204Gln) c.3558T>A (p.His1186Gln) c.2958T>A (p.His986Gln) c.3906T>A (p.His1302Gln) c.3903T>A (p.His1301Gln) c.3822T>A (p.His1274Gln) c.3753T>A (p.His1251Gln) c.3621T>A (p.His1207Gln) c.3489T>A (p.His1163Gln) | dbSNP |
20 | g.32436354T>C | CA510467376 | ASXL1 | c.3642T>C (p.His1214=) c.3459T>C (p.His1153=) n.5995T>C c.1869+1773T>C (n.1869+1773T>C) c.3627T>C (p.His1209=) c.3639T>C (p.His1213=) c.3612T>C (p.His1204=) c.3558T>C (p.His1186=) c.2958T>C (p.His986=) c.3906T>C (p.His1302=) c.3903T>C (p.His1301=) c.3822T>C (p.His1274=) c.3753T>C (p.His1251=) c.3621T>C (p.His1207=) c.3489T>C (p.His1163=) | |
20 | g.32436354T>G | CA408563491 | ASXL1 | c.3642T>G (p.His1214Gln) c.3459T>G (p.His1153Gln) n.5995T>G c.1869+1773T>G (n.1869+1773T>G) c.3627T>G (p.His1209Gln) c.3639T>G (p.His1213Gln) c.3612T>G (p.His1204Gln) c.3558T>G (p.His1186Gln) c.2958T>G (p.His986Gln) c.3906T>G (p.His1302Gln) c.3903T>G (p.His1301Gln) c.3822T>G (p.His1274Gln) c.3753T>G (p.His1251Gln) c.3621T>G (p.His1207Gln) c.3489T>G (p.His1163Gln) | |
20 | g.32436354T= | CA2360293663 | ASXL1 | c.3642T= (p.His1214=) c.3459T= (p.His1153=) n.5995T= c.1869+1773T= (n.1869+1773T=) c.3627T= (p.His1209=) c.3639T= (p.His1213=) c.3612T= (p.His1204=) c.3558T= (p.His1186=) c.2958T= (p.His986=) c.3906T= (p.His1302=) c.3903T= (p.His1301=) c.3822T= (p.His1274=) c.3753T= (p.His1251=) c.3621T= (p.His1207=) c.3489T= (p.His1163=) | |
20 | g.32436355C>A | CA408563493 | ASXL1 | c.3643C>A (p.Pro1215Thr) c.3460C>A (p.Pro1154Thr) n.5996C>A c.1869+1774C>A (n.1869+1774C>A) c.3628C>A (p.Pro1210Thr) c.3640C>A (p.Pro1214Thr) c.3613C>A (p.Pro1205Thr) c.3559C>A (p.Pro1187Thr) c.2959C>A (p.Pro987Thr) c.3907C>A (p.Pro1303Thr) c.3904C>A (p.Pro1302Thr) c.3823C>A (p.Pro1275Thr) c.3754C>A (p.Pro1252Thr) c.3622C>A (p.Pro1208Thr) c.3490C>A (p.Pro1164Thr) | |
20 | g.32436355C>G | CA408563494 | ASXL1 | c.3643C>G (p.Pro1215Ala) c.3460C>G (p.Pro1154Ala) n.5996C>G c.1869+1774C>G (n.1869+1774C>G) c.3628C>G (p.Pro1210Ala) c.3640C>G (p.Pro1214Ala) c.3613C>G (p.Pro1205Ala) c.3559C>G (p.Pro1187Ala) c.2959C>G (p.Pro987Ala) c.3907C>G (p.Pro1303Ala) c.3904C>G (p.Pro1302Ala) c.3823C>G (p.Pro1275Ala) c.3754C>G (p.Pro1252Ala) c.3622C>G (p.Pro1208Ala) c.3490C>G (p.Pro1164Ala) | dbSNP |
20 | g.32436355C>T | CA408563495 | ASXL1 | c.3643C>T (p.Pro1215Ser) c.3460C>T (p.Pro1154Ser) n.5996C>T c.1869+1774C>T (n.1869+1774C>T) c.3628C>T (p.Pro1210Ser) c.3640C>T (p.Pro1214Ser) c.3613C>T (p.Pro1205Ser) c.3559C>T (p.Pro1187Ser) c.2959C>T (p.Pro987Ser) c.3907C>T (p.Pro1303Ser) c.3904C>T (p.Pro1302Ser) c.3823C>T (p.Pro1275Ser) c.3754C>T (p.Pro1252Ser) c.3622C>T (p.Pro1208Ser) c.3490C>T (p.Pro1164Ser) | dbSNP gnomAD v4 |
20 | g.32436356C>A | CA408563496 | ASXL1 | c.3644C>A (p.Pro1215Gln) c.3461C>A (p.Pro1154Gln) n.5997C>A c.1869+1775C>A (n.1869+1775C>A) c.3629C>A (p.Pro1210Gln) c.3641C>A (p.Pro1214Gln) c.3614C>A (p.Pro1205Gln) c.3560C>A (p.Pro1187Gln) c.2960C>A (p.Pro987Gln) c.3908C>A (p.Pro1303Gln) c.3905C>A (p.Pro1302Gln) c.3824C>A (p.Pro1275Gln) c.3755C>A (p.Pro1252Gln) c.3623C>A (p.Pro1208Gln) c.3491C>A (p.Pro1164Gln) | |
20 | g.32436356C>G | CA408563497 | ASXL1 | c.3644C>G (p.Pro1215Arg) c.3461C>G (p.Pro1154Arg) n.5997C>G c.1869+1775C>G (n.1869+1775C>G) c.3629C>G (p.Pro1210Arg) c.3641C>G (p.Pro1214Arg) c.3614C>G (p.Pro1205Arg) c.3560C>G (p.Pro1187Arg) c.2960C>G (p.Pro987Arg) c.3908C>G (p.Pro1303Arg) c.3905C>G (p.Pro1302Arg) c.3824C>G (p.Pro1275Arg) c.3755C>G (p.Pro1252Arg) c.3623C>G (p.Pro1208Arg) c.3491C>G (p.Pro1164Arg) | |
20 | g.32436356C>T | CA408563498 | ASXL1 | c.3644C>T (p.Pro1215Leu) c.3461C>T (p.Pro1154Leu) n.5997C>T c.1869+1775C>T (n.1869+1775C>T) c.3629C>T (p.Pro1210Leu) c.3641C>T (p.Pro1214Leu) c.3614C>T (p.Pro1205Leu) c.3560C>T (p.Pro1187Leu) c.2960C>T (p.Pro987Leu) c.3908C>T (p.Pro1303Leu) c.3905C>T (p.Pro1302Leu) c.3824C>T (p.Pro1275Leu) c.3755C>T (p.Pro1252Leu) c.3623C>T (p.Pro1208Leu) c.3491C>T (p.Pro1164Leu) | |
20 | g.32436357A>C | CA510467377 | ASXL1 | c.3645A>C (p.Pro1215=) c.3462A>C (p.Pro1154=) n.5998A>C c.1869+1776A>C (n.1869+1776A>C) c.3630A>C (p.Pro1210=) c.3642A>C (p.Pro1214=) c.3615A>C (p.Pro1205=) c.3561A>C (p.Pro1187=) c.2961A>C (p.Pro987=) c.3909A>C (p.Pro1303=) c.3906A>C (p.Pro1302=) c.3825A>C (p.Pro1275=) c.3756A>C (p.Pro1252=) c.3624A>C (p.Pro1208=) c.3492A>C (p.Pro1164=) | |
20 | g.32436357A>G | CA510467378 | ASXL1 | c.3645A>G (p.Pro1215=) c.3462A>G (p.Pro1154=) n.5998A>G c.1869+1776A>G (n.1869+1776A>G) c.3630A>G (p.Pro1210=) c.3642A>G (p.Pro1214=) c.3615A>G (p.Pro1205=) c.3561A>G (p.Pro1187=) c.2961A>G (p.Pro987=) c.3909A>G (p.Pro1303=) c.3906A>G (p.Pro1302=) c.3825A>G (p.Pro1275=) c.3756A>G (p.Pro1252=) c.3624A>G (p.Pro1208=) c.3492A>G (p.Pro1164=) | gnomAD v4 |
20 | g.32436357A>T | CA510467379 | ASXL1 | c.3645A>T (p.Pro1215=) c.3462A>T (p.Pro1154=) n.5998A>T c.1869+1776A>T (n.1869+1776A>T) c.3630A>T (p.Pro1210=) c.3642A>T (p.Pro1214=) c.3615A>T (p.Pro1205=) c.3561A>T (p.Pro1187=) c.2961A>T (p.Pro987=) c.3909A>T (p.Pro1303=) c.3906A>T (p.Pro1302=) c.3825A>T (p.Pro1275=) c.3756A>T (p.Pro1252=) c.3624A>T (p.Pro1208=) c.3492A>T (p.Pro1164=) | |
20 | g.32436358G>A | CA408563499 | ASXL1 | c.3646G>A (p.Val1216Met) c.3463G>A (p.Val1155Met) n.5999G>A c.1869+1777G>A (n.1869+1777G>A) c.3631G>A (p.Val1211Met) c.3643G>A (p.Val1215Met) c.3616G>A (p.Val1206Met) c.3562G>A (p.Val1188Met) c.2962G>A (p.Val988Met) c.3910G>A (p.Val1304Met) c.3907G>A (p.Val1303Met) c.3826G>A (p.Val1276Met) c.3757G>A (p.Val1253Met) c.3625G>A (p.Val1209Met) c.3493G>A (p.Val1165Met) | gnomAD v4 |
20 | g.32436358G>C | CA9808868 | ASXL1 | c.3646G>C (p.Val1216Leu) c.3463G>C (p.Val1155Leu) n.5999G>C c.1869+1777G>C (n.1869+1777G>C) c.3631G>C (p.Val1211Leu) c.3643G>C (p.Val1215Leu) c.3616G>C (p.Val1206Leu) c.3562G>C (p.Val1188Leu) c.2962G>C (p.Val988Leu) c.3910G>C (p.Val1304Leu) c.3907G>C (p.Val1303Leu) c.3826G>C (p.Val1276Leu) c.3757G>C (p.Val1253Leu) c.3625G>C (p.Val1209Leu) c.3493G>C (p.Val1165Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436358G= | CA2360293664 | ASXL1 | c.3646G= (p.Val1216=) c.3463G= (p.Val1155=) n.5999G= c.1869+1777G= (n.1869+1777G=) c.3631G= (p.Val1211=) c.3643G= (p.Val1215=) c.3616G= (p.Val1206=) c.3562G= (p.Val1188=) c.2962G= (p.Val988=) c.3910G= (p.Val1304=) c.3907G= (p.Val1303=) c.3826G= (p.Val1276=) c.3757G= (p.Val1253=) c.3625G= (p.Val1209=) c.3493G= (p.Val1165=) | |
20 | g.32436358G>T | CA408563500 | ASXL1 | c.3646G>T (p.Val1216Leu) c.3463G>T (p.Val1155Leu) n.5999G>T c.1869+1777G>T (n.1869+1777G>T) c.3631G>T (p.Val1211Leu) c.3643G>T (p.Val1215Leu) c.3616G>T (p.Val1206Leu) c.3562G>T (p.Val1188Leu) c.2962G>T (p.Val988Leu) c.3910G>T (p.Val1304Leu) c.3907G>T (p.Val1303Leu) c.3826G>T (p.Val1276Leu) c.3757G>T (p.Val1253Leu) c.3625G>T (p.Val1209Leu) c.3493G>T (p.Val1165Leu) | |
20 | g.32436359T>A | CA408563501 | ASXL1 | c.3647T>A (p.Val1216Glu) c.3464T>A (p.Val1155Glu) n.6000T>A c.1869+1778T>A (n.1869+1778T>A) c.3632T>A (p.Val1211Glu) c.3644T>A (p.Val1215Glu) c.3617T>A (p.Val1206Glu) c.3563T>A (p.Val1188Glu) c.2963T>A (p.Val988Glu) c.3911T>A (p.Val1304Glu) c.3908T>A (p.Val1303Glu) c.3827T>A (p.Val1276Glu) c.3758T>A (p.Val1253Glu) c.3626T>A (p.Val1209Glu) c.3494T>A (p.Val1165Glu) | |
20 | g.32436359T>C | CA408563502 | ASXL1 | c.3647T>C (p.Val1216Ala) c.3464T>C (p.Val1155Ala) n.6000T>C c.1869+1778T>C (n.1869+1778T>C) c.3632T>C (p.Val1211Ala) c.3644T>C (p.Val1215Ala) c.3617T>C (p.Val1206Ala) c.3563T>C (p.Val1188Ala) c.2963T>C (p.Val988Ala) c.3911T>C (p.Val1304Ala) c.3908T>C (p.Val1303Ala) c.3827T>C (p.Val1276Ala) c.3758T>C (p.Val1253Ala) c.3626T>C (p.Val1209Ala) c.3494T>C (p.Val1165Ala) | |
20 | g.32436359T>G | CA408563503 | ASXL1 | c.3647T>G (p.Val1216Gly) c.3464T>G (p.Val1155Gly) n.6000T>G c.1869+1778T>G (n.1869+1778T>G) c.3632T>G (p.Val1211Gly) c.3644T>G (p.Val1215Gly) c.3617T>G (p.Val1206Gly) c.3563T>G (p.Val1188Gly) c.2963T>G (p.Val988Gly) c.3911T>G (p.Val1304Gly) c.3908T>G (p.Val1303Gly) c.3827T>G (p.Val1276Gly) c.3758T>G (p.Val1253Gly) c.3626T>G (p.Val1209Gly) c.3494T>G (p.Val1165Gly) | |
20 | g.32436360G>A | CA510467382 | ASXL1 | c.3648G>A (p.Val1216=) c.3465G>A (p.Val1155=) n.6001G>A c.1869+1779G>A (n.1869+1779G>A) c.3633G>A (p.Val1211=) c.3645G>A (p.Val1215=) c.3618G>A (p.Val1206=) c.3564G>A (p.Val1188=) c.2964G>A (p.Val988=) c.3912G>A (p.Val1304=) c.3909G>A (p.Val1303=) c.3828G>A (p.Val1276=) c.3759G>A (p.Val1253=) c.3627G>A (p.Val1209=) c.3495G>A (p.Val1165=) | |
20 | g.32436360G>C | CA510467384 | ASXL1 | c.3648G>C (p.Val1216=) c.3465G>C (p.Val1155=) n.6001G>C c.1869+1779G>C (n.1869+1779G>C) c.3633G>C (p.Val1211=) c.3645G>C (p.Val1215=) c.3618G>C (p.Val1206=) c.3564G>C (p.Val1188=) c.2964G>C (p.Val988=) c.3912G>C (p.Val1304=) c.3909G>C (p.Val1303=) c.3828G>C (p.Val1276=) c.3759G>C (p.Val1253=) c.3627G>C (p.Val1209=) c.3495G>C (p.Val1165=) | dbSNP |
20 | g.32436360G>T | CA510467385 | ASXL1 | c.3648G>T (p.Val1216=) c.3465G>T (p.Val1155=) n.6001G>T c.1869+1779G>T (n.1869+1779G>T) c.3633G>T (p.Val1211=) c.3645G>T (p.Val1215=) c.3618G>T (p.Val1206=) c.3564G>T (p.Val1188=) c.2964G>T (p.Val988=) c.3912G>T (p.Val1304=) c.3909G>T (p.Val1303=) c.3828G>T (p.Val1276=) c.3759G>T (p.Val1253=) c.3627G>T (p.Val1209=) c.3495G>T (p.Val1165=) | |
20 | g.32436361A>C | CA408563504 | ASXL1 | c.3649A>C (p.Thr1217Pro) c.3466A>C (p.Thr1156Pro) n.6002A>C c.1869+1780A>C (n.1869+1780A>C) c.3634A>C (p.Thr1212Pro) c.3646A>C (p.Thr1216Pro) c.3619A>C (p.Thr1207Pro) c.3565A>C (p.Thr1189Pro) c.2965A>C (p.Thr989Pro) c.3913A>C (p.Thr1305Pro) c.3910A>C (p.Thr1304Pro) c.3829A>C (p.Thr1277Pro) c.3760A>C (p.Thr1254Pro) c.3628A>C (p.Thr1210Pro) c.3496A>C (p.Thr1166Pro) | |
20 | g.32436361A>G | CA408563505 | ASXL1 | c.3649A>G (p.Thr1217Ala) c.3466A>G (p.Thr1156Ala) n.6002A>G c.1869+1780A>G (n.1869+1780A>G) c.3634A>G (p.Thr1212Ala) c.3646A>G (p.Thr1216Ala) c.3619A>G (p.Thr1207Ala) c.3565A>G (p.Thr1189Ala) c.2965A>G (p.Thr989Ala) c.3913A>G (p.Thr1305Ala) c.3910A>G (p.Thr1304Ala) c.3829A>G (p.Thr1277Ala) c.3760A>G (p.Thr1254Ala) c.3628A>G (p.Thr1210Ala) c.3496A>G (p.Thr1166Ala) | gnomAD v4 |
20 | g.32436361A>T | CA408563506 | ASXL1 | c.3649A>T (p.Thr1217Ser) c.3466A>T (p.Thr1156Ser) n.6002A>T c.1869+1780A>T (n.1869+1780A>T) c.3634A>T (p.Thr1212Ser) c.3646A>T (p.Thr1216Ser) c.3619A>T (p.Thr1207Ser) c.3565A>T (p.Thr1189Ser) c.2965A>T (p.Thr989Ser) c.3913A>T (p.Thr1305Ser) c.3910A>T (p.Thr1304Ser) c.3829A>T (p.Thr1277Ser) c.3760A>T (p.Thr1254Ser) c.3628A>T (p.Thr1210Ser) c.3496A>T (p.Thr1166Ser) | |
20 | g.32436362C>A | CA408563507 | ASXL1 | c.3650C>A (p.Thr1217Lys) c.3467C>A (p.Thr1156Lys) n.6003C>A c.1869+1781C>A (n.1869+1781C>A) c.3635C>A (p.Thr1212Lys) c.3647C>A (p.Thr1216Lys) c.3620C>A (p.Thr1207Lys) c.3566C>A (p.Thr1189Lys) c.2966C>A (p.Thr989Lys) c.3914C>A (p.Thr1305Lys) c.3911C>A (p.Thr1304Lys) c.3830C>A (p.Thr1277Lys) c.3761C>A (p.Thr1254Lys) c.3629C>A (p.Thr1210Lys) c.3497C>A (p.Thr1166Lys) | |
20 | g.32436362C= | CA2360293665 | ASXL1 | c.3650C= (p.Thr1217=) c.3467C= (p.Thr1156=) n.6003C= c.1869+1781C= (n.1869+1781C=) c.3635C= (p.Thr1212=) c.3647C= (p.Thr1216=) c.3620C= (p.Thr1207=) c.3566C= (p.Thr1189=) c.2966C= (p.Thr989=) c.3914C= (p.Thr1305=) c.3911C= (p.Thr1304=) c.3830C= (p.Thr1277=) c.3761C= (p.Thr1254=) c.3629C= (p.Thr1210=) c.3497C= (p.Thr1166=) | |
20 | g.32436362C>G | CA408563508 | ASXL1 | c.3650C>G (p.Thr1217Arg) c.3467C>G (p.Thr1156Arg) n.6003C>G c.1869+1781C>G (n.1869+1781C>G) c.3635C>G (p.Thr1212Arg) c.3647C>G (p.Thr1216Arg) c.3620C>G (p.Thr1207Arg) c.3566C>G (p.Thr1189Arg) c.2966C>G (p.Thr989Arg) c.3914C>G (p.Thr1305Arg) c.3911C>G (p.Thr1304Arg) c.3830C>G (p.Thr1277Arg) c.3761C>G (p.Thr1254Arg) c.3629C>G (p.Thr1210Arg) c.3497C>G (p.Thr1166Arg) | |
20 | g.32436362C>T | CA408563509 | ASXL1 | c.3650C>T (p.Thr1217Ile) c.3467C>T (p.Thr1156Ile) n.6003C>T c.1869+1781C>T (n.1869+1781C>T) c.3635C>T (p.Thr1212Ile) c.3647C>T (p.Thr1216Ile) c.3620C>T (p.Thr1207Ile) c.3566C>T (p.Thr1189Ile) c.2966C>T (p.Thr989Ile) c.3914C>T (p.Thr1305Ile) c.3911C>T (p.Thr1304Ile) c.3830C>T (p.Thr1277Ile) c.3761C>T (p.Thr1254Ile) c.3629C>T (p.Thr1210Ile) c.3497C>T (p.Thr1166Ile) | |
20 | g.32436363A>C | CA510467391 | ASXL1 | c.3651A>C (p.Thr1217=) c.3468A>C (p.Thr1156=) n.6004A>C c.1869+1782A>C (n.1869+1782A>C) c.3636A>C (p.Thr1212=) c.3648A>C (p.Thr1216=) c.3621A>C (p.Thr1207=) c.3567A>C (p.Thr1189=) c.2967A>C (p.Thr989=) c.3915A>C (p.Thr1305=) c.3912A>C (p.Thr1304=) c.3831A>C (p.Thr1277=) c.3762A>C (p.Thr1254=) c.3630A>C (p.Thr1210=) c.3498A>C (p.Thr1166=) | |
20 | g.32436363A>G | CA510467389 | ASXL1 | c.3651A>G (p.Thr1217=) c.3468A>G (p.Thr1156=) n.6004A>G c.1869+1782A>G (n.1869+1782A>G) c.3636A>G (p.Thr1212=) c.3648A>G (p.Thr1216=) c.3621A>G (p.Thr1207=) c.3567A>G (p.Thr1189=) c.2967A>G (p.Thr989=) c.3915A>G (p.Thr1305=) c.3912A>G (p.Thr1304=) c.3831A>G (p.Thr1277=) c.3762A>G (p.Thr1254=) c.3630A>G (p.Thr1210=) c.3498A>G (p.Thr1166=) | |
20 | g.32436363A>T | CA510467387 | ASXL1 | c.3651A>T (p.Thr1217=) c.3468A>T (p.Thr1156=) n.6004A>T c.1869+1782A>T (n.1869+1782A>T) c.3636A>T (p.Thr1212=) c.3648A>T (p.Thr1216=) c.3621A>T (p.Thr1207=) c.3567A>T (p.Thr1189=) c.2967A>T (p.Thr989=) c.3915A>T (p.Thr1305=) c.3912A>T (p.Thr1304=) c.3831A>T (p.Thr1277=) c.3762A>T (p.Thr1254=) c.3630A>T (p.Thr1210=) c.3498A>T (p.Thr1166=) | |
20 | g.32436364_32436365dup | CA9808869 | ASXL1 | c.3652_3653dup (p.Asn1218LysfsTer?) c.3469_3470dup (p.Asn1157LysfsTer?) n.6005_6006dup c.1869+1783_1869+1784dup (n.1869+1783_1869+1784dup) c.3637_3638dup (p.Asn1213LysfsTer?) c.3649_3650dup (p.Asn1217LysfsTer?) c.3622_3623dup (p.Asn1208LysfsTer?) c.3568_3569dup (p.Asn1190LysfsTer?) c.2968_2969dup (p.Asn990LysfsTer?) c.3916_3917dup (p.Asn1306LysfsTer?) c.3913_3914dup (p.Asn1305LysfsTer?) c.3832_3833dup (p.Asn1278LysfsTer?) c.3763_3764dup (p.Asn1255LysfsTer?) c.3631_3632dup (p.Asn1211LysfsTer?) c.3499_3500dup (p.Asn1167LysfsTer?) | dbSNP ExAC gnomAD v2 |
20 | g.32436364_32436365del | CA2695229724 | ASXL1 | c.3652_3653del (p.Asn1218SerfsTer6) c.3469_3470del (p.Asn1157SerfsTer6) n.6005_6006del c.1869+1783_1869+1784del (n.1869+1783_1869+1784del) c.3637_3638del (p.Asn1213SerfsTer6) c.3649_3650del (p.Asn1217SerfsTer6) c.3622_3623del (p.Asn1208SerfsTer6) c.3568_3569del (p.Asn1190SerfsTer6) c.2968_2969del (p.Asn990SerfsTer6) c.3916_3917del (p.Asn1306SerfsTer6) c.3913_3914del (p.Asn1305SerfsTer6) c.3832_3833del (p.Asn1278SerfsTer6) c.3763_3764del (p.Asn1255SerfsTer6) c.3631_3632del (p.Asn1211SerfsTer6) c.3499_3500del (p.Asn1167SerfsTer6) | |
20 | g.32436364A>C | CA408563512 | ASXL1 | c.3652A>C (p.Asn1218His) c.3469A>C (p.Asn1157His) n.6005A>C c.1869+1783A>C (n.1869+1783A>C) c.3637A>C (p.Asn1213His) c.3649A>C (p.Asn1217His) c.3622A>C (p.Asn1208His) c.3568A>C (p.Asn1190His) c.2968A>C (p.Asn990His) c.3916A>C (p.Asn1306His) c.3913A>C (p.Asn1305His) c.3832A>C (p.Asn1278His) c.3763A>C (p.Asn1255His) c.3631A>C (p.Asn1211His) c.3499A>C (p.Asn1167His) | |
20 | g.32436364A>G | CA408563511 | ASXL1 | c.3652A>G (p.Asn1218Asp) c.3469A>G (p.Asn1157Asp) n.6005A>G c.1869+1783A>G (n.1869+1783A>G) c.3637A>G (p.Asn1213Asp) c.3649A>G (p.Asn1217Asp) c.3622A>G (p.Asn1208Asp) c.3568A>G (p.Asn1190Asp) c.2968A>G (p.Asn990Asp) c.3916A>G (p.Asn1306Asp) c.3913A>G (p.Asn1305Asp) c.3832A>G (p.Asn1278Asp) c.3763A>G (p.Asn1255Asp) c.3631A>G (p.Asn1211Asp) c.3499A>G (p.Asn1167Asp) | |
20 | g.32436364A>T | CA408563510 | ASXL1 | c.3652A>T (p.Asn1218Tyr) c.3469A>T (p.Asn1157Tyr) n.6005A>T c.1869+1783A>T (n.1869+1783A>T) c.3637A>T (p.Asn1213Tyr) c.3649A>T (p.Asn1217Tyr) c.3622A>T (p.Asn1208Tyr) c.3568A>T (p.Asn1190Tyr) c.2968A>T (p.Asn990Tyr) c.3916A>T (p.Asn1306Tyr) c.3913A>T (p.Asn1305Tyr) c.3832A>T (p.Asn1278Tyr) c.3763A>T (p.Asn1255Tyr) c.3631A>T (p.Asn1211Tyr) c.3499A>T (p.Asn1167Tyr) | |
20 | g.32436365A>C | CA408563513 | ASXL1 | c.3653A>C (p.Asn1218Thr) c.3470A>C (p.Asn1157Thr) n.6006A>C c.1869+1784A>C (n.1869+1784A>C) c.3638A>C (p.Asn1213Thr) c.3650A>C (p.Asn1217Thr) c.3623A>C (p.Asn1208Thr) c.3569A>C (p.Asn1190Thr) c.2969A>C (p.Asn990Thr) c.3917A>C (p.Asn1306Thr) c.3914A>C (p.Asn1305Thr) c.3833A>C (p.Asn1278Thr) c.3764A>C (p.Asn1255Thr) c.3632A>C (p.Asn1211Thr) c.3500A>C (p.Asn1167Thr) | |
20 | g.32436365A>G | CA408563515 | ASXL1 | c.3653A>G (p.Asn1218Ser) c.3470A>G (p.Asn1157Ser) n.6006A>G c.1869+1784A>G (n.1869+1784A>G) c.3638A>G (p.Asn1213Ser) c.3650A>G (p.Asn1217Ser) c.3623A>G (p.Asn1208Ser) c.3569A>G (p.Asn1190Ser) c.2969A>G (p.Asn990Ser) c.3917A>G (p.Asn1306Ser) c.3914A>G (p.Asn1305Ser) c.3833A>G (p.Asn1278Ser) c.3764A>G (p.Asn1255Ser) c.3632A>G (p.Asn1211Ser) c.3500A>G (p.Asn1167Ser) | |
20 | g.32436365A>T | CA408563514 | ASXL1 | c.3653A>T (p.Asn1218Ile) c.3470A>T (p.Asn1157Ile) n.6006A>T c.1869+1784A>T (n.1869+1784A>T) c.3638A>T (p.Asn1213Ile) c.3650A>T (p.Asn1217Ile) c.3623A>T (p.Asn1208Ile) c.3569A>T (p.Asn1190Ile) c.2969A>T (p.Asn990Ile) c.3917A>T (p.Asn1306Ile) c.3914A>T (p.Asn1305Ile) c.3833A>T (p.Asn1278Ile) c.3764A>T (p.Asn1255Ile) c.3632A>T (p.Asn1211Ile) c.3500A>T (p.Asn1167Ile) | |
20 | g.32436366T>A | CA408563516 | ASXL1 | c.3654T>A (p.Asn1218Lys) c.3471T>A (p.Asn1157Lys) n.6007T>A c.1869+1785T>A (n.1869+1785T>A) c.3639T>A (p.Asn1213Lys) c.3651T>A (p.Asn1217Lys) c.3624T>A (p.Asn1208Lys) c.3570T>A (p.Asn1190Lys) c.2970T>A (p.Asn990Lys) c.3918T>A (p.Asn1306Lys) c.3915T>A (p.Asn1305Lys) c.3834T>A (p.Asn1278Lys) c.3765T>A (p.Asn1255Lys) c.3633T>A (p.Asn1211Lys) c.3501T>A (p.Asn1167Lys) | |
20 | g.32436366T>C | CA510467393 | ASXL1 | c.3654T>C (p.Asn1218=) c.3471T>C (p.Asn1157=) n.6007T>C c.1869+1785T>C (n.1869+1785T>C) c.3639T>C (p.Asn1213=) c.3651T>C (p.Asn1217=) c.3624T>C (p.Asn1208=) c.3570T>C (p.Asn1190=) c.2970T>C (p.Asn990=) c.3918T>C (p.Asn1306=) c.3915T>C (p.Asn1305=) c.3834T>C (p.Asn1278=) c.3765T>C (p.Asn1255=) c.3633T>C (p.Asn1211=) c.3501T>C (p.Asn1167=) | |
20 | g.32436366T>G | CA408563517 | ASXL1 | c.3654T>G (p.Asn1218Lys) c.3471T>G (p.Asn1157Lys) n.6007T>G c.1869+1785T>G (n.1869+1785T>G) c.3639T>G (p.Asn1213Lys) c.3651T>G (p.Asn1217Lys) c.3624T>G (p.Asn1208Lys) c.3570T>G (p.Asn1190Lys) c.2970T>G (p.Asn990Lys) c.3918T>G (p.Asn1306Lys) c.3915T>G (p.Asn1305Lys) c.3834T>G (p.Asn1278Lys) c.3765T>G (p.Asn1255Lys) c.3633T>G (p.Asn1211Lys) c.3501T>G (p.Asn1167Lys) | |
20 | g.32436367C>A | CA408563518 | ASXL1 | c.3655C>A (p.Pro1219Thr) c.3472C>A (p.Pro1158Thr) n.6008C>A c.1869+1786C>A (n.1869+1786C>A) c.3640C>A (p.Pro1214Thr) c.3652C>A (p.Pro1218Thr) c.3625C>A (p.Pro1209Thr) c.3571C>A (p.Pro1191Thr) c.2971C>A (p.Pro991Thr) c.3919C>A (p.Pro1307Thr) c.3916C>A (p.Pro1306Thr) c.3835C>A (p.Pro1279Thr) c.3766C>A (p.Pro1256Thr) c.3634C>A (p.Pro1212Thr) c.3502C>A (p.Pro1168Thr) | |
20 | g.32436367C= | CA2360293666 | ASXL1 | c.3655C= (p.Pro1219=) c.3472C= (p.Pro1158=) n.6008C= c.1869+1786C= (n.1869+1786C=) c.3640C= (p.Pro1214=) c.3652C= (p.Pro1218=) c.3625C= (p.Pro1209=) c.3571C= (p.Pro1191=) c.2971C= (p.Pro991=) c.3919C= (p.Pro1307=) c.3916C= (p.Pro1306=) c.3835C= (p.Pro1279=) c.3766C= (p.Pro1256=) c.3634C= (p.Pro1212=) c.3502C= (p.Pro1168=) | |
20 | g.32436367C>G | CA408563519 | ASXL1 | c.3655C>G (p.Pro1219Ala) c.3472C>G (p.Pro1158Ala) n.6008C>G c.1869+1786C>G (n.1869+1786C>G) c.3640C>G (p.Pro1214Ala) c.3652C>G (p.Pro1218Ala) c.3625C>G (p.Pro1209Ala) c.3571C>G (p.Pro1191Ala) c.2971C>G (p.Pro991Ala) c.3919C>G (p.Pro1307Ala) c.3916C>G (p.Pro1306Ala) c.3835C>G (p.Pro1279Ala) c.3766C>G (p.Pro1256Ala) c.3634C>G (p.Pro1212Ala) c.3502C>G (p.Pro1168Ala) | |
20 | g.32436367C>T | CA9808870 | ASXL1 | c.3655C>T (p.Pro1219Ser) c.3472C>T (p.Pro1158Ser) n.6008C>T c.1869+1786C>T (n.1869+1786C>T) c.3640C>T (p.Pro1214Ser) c.3652C>T (p.Pro1218Ser) c.3625C>T (p.Pro1209Ser) c.3571C>T (p.Pro1191Ser) c.2971C>T (p.Pro991Ser) c.3919C>T (p.Pro1307Ser) c.3916C>T (p.Pro1306Ser) c.3835C>T (p.Pro1279Ser) c.3766C>T (p.Pro1256Ser) c.3634C>T (p.Pro1212Ser) c.3502C>T (p.Pro1168Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436368C>A | CA408563520 | ASXL1 | c.3656C>A (p.Pro1219His) c.3473C>A (p.Pro1158His) n.6009C>A c.1869+1787C>A (n.1869+1787C>A) c.3641C>A (p.Pro1214His) c.3653C>A (p.Pro1218His) c.3626C>A (p.Pro1209His) c.3572C>A (p.Pro1191His) c.2972C>A (p.Pro991His) c.3920C>A (p.Pro1307His) c.3917C>A (p.Pro1306His) c.3836C>A (p.Pro1279His) c.3767C>A (p.Pro1256His) c.3635C>A (p.Pro1212His) c.3503C>A (p.Pro1168His) | |
20 | g.32436368C>G | CA408563521 | ASXL1 | c.3656C>G (p.Pro1219Arg) c.3473C>G (p.Pro1158Arg) n.6009C>G c.1869+1787C>G (n.1869+1787C>G) c.3641C>G (p.Pro1214Arg) c.3653C>G (p.Pro1218Arg) c.3626C>G (p.Pro1209Arg) c.3572C>G (p.Pro1191Arg) c.2972C>G (p.Pro991Arg) c.3920C>G (p.Pro1307Arg) c.3917C>G (p.Pro1306Arg) c.3836C>G (p.Pro1279Arg) c.3767C>G (p.Pro1256Arg) c.3635C>G (p.Pro1212Arg) c.3503C>G (p.Pro1168Arg) | |
20 | g.32436368C>T | CA408563522 | ASXL1 | c.3656C>T (p.Pro1219Leu) c.3473C>T (p.Pro1158Leu) n.6009C>T c.1869+1787C>T (n.1869+1787C>T) c.3641C>T (p.Pro1214Leu) c.3653C>T (p.Pro1218Leu) c.3626C>T (p.Pro1209Leu) c.3572C>T (p.Pro1191Leu) c.2972C>T (p.Pro991Leu) c.3920C>T (p.Pro1307Leu) c.3917C>T (p.Pro1306Leu) c.3836C>T (p.Pro1279Leu) c.3767C>T (p.Pro1256Leu) c.3635C>T (p.Pro1212Leu) c.3503C>T (p.Pro1168Leu) | gnomAD v4 |
20 | g.32436369C>A | CA510467396 | ASXL1 | c.3657C>A (p.Pro1219=) c.3474C>A (p.Pro1158=) n.6010C>A c.1869+1788C>A (n.1869+1788C>A) c.3642C>A (p.Pro1214=) c.3654C>A (p.Pro1218=) c.3627C>A (p.Pro1209=) c.3573C>A (p.Pro1191=) c.2973C>A (p.Pro991=) c.3921C>A (p.Pro1307=) c.3918C>A (p.Pro1306=) c.3837C>A (p.Pro1279=) c.3768C>A (p.Pro1256=) c.3636C>A (p.Pro1212=) c.3504C>A (p.Pro1168=) | |
20 | g.32436369C= | CA2360293667 | ASXL1 | c.3657C= (p.Pro1219=) c.3474C= (p.Pro1158=) n.6010C= c.1869+1788C= (n.1869+1788C=) c.3642C= (p.Pro1214=) c.3654C= (p.Pro1218=) c.3627C= (p.Pro1209=) c.3573C= (p.Pro1191=) c.2973C= (p.Pro991=) c.3921C= (p.Pro1307=) c.3918C= (p.Pro1306=) c.3837C= (p.Pro1279=) c.3768C= (p.Pro1256=) c.3636C= (p.Pro1212=) c.3504C= (p.Pro1168=) | |
20 | g.32436369C>G | CA510467397 | ASXL1 | c.3657C>G (p.Pro1219=) c.3474C>G (p.Pro1158=) n.6010C>G c.1869+1788C>G (n.1869+1788C>G) c.3642C>G (p.Pro1214=) c.3654C>G (p.Pro1218=) c.3627C>G (p.Pro1209=) c.3573C>G (p.Pro1191=) c.2973C>G (p.Pro991=) c.3921C>G (p.Pro1307=) c.3918C>G (p.Pro1306=) c.3837C>G (p.Pro1279=) c.3768C>G (p.Pro1256=) c.3636C>G (p.Pro1212=) c.3504C>G (p.Pro1168=) | |
20 | g.32436369C>T | CA510467399 | ASXL1 | c.3657C>T (p.Pro1219=) c.3474C>T (p.Pro1158=) n.6010C>T c.1869+1788C>T (n.1869+1788C>T) c.3642C>T (p.Pro1214=) c.3654C>T (p.Pro1218=) c.3627C>T (p.Pro1209=) c.3573C>T (p.Pro1191=) c.2973C>T (p.Pro991=) c.3921C>T (p.Pro1307=) c.3918C>T (p.Pro1306=) c.3837C>T (p.Pro1279=) c.3768C>T (p.Pro1256=) c.3636C>T (p.Pro1212=) c.3504C>T (p.Pro1168=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436370A= | CA2360293668 | ASXL1 | c.3658A= (p.Ile1220=) c.3475A= (p.Ile1159=) n.6011A= c.1869+1789A= (n.1869+1789A=) c.3643A= (p.Ile1215=) c.3655A= (p.Ile1219=) c.3628A= (p.Ile1210=) c.3574A= (p.Ile1192=) c.2974A= (p.Ile992=) c.3922A= (p.Ile1308=) c.3919A= (p.Ile1307=) c.3838A= (p.Ile1280=) c.3769A= (p.Ile1257=) c.3637A= (p.Ile1213=) c.3505A= (p.Ile1169=) | |
20 | g.32436370A>C | CA408563523 | ASXL1 | c.3658A>C (p.Ile1220Leu) c.3475A>C (p.Ile1159Leu) n.6011A>C c.1869+1789A>C (n.1869+1789A>C) c.3643A>C (p.Ile1215Leu) c.3655A>C (p.Ile1219Leu) c.3628A>C (p.Ile1210Leu) c.3574A>C (p.Ile1192Leu) c.2974A>C (p.Ile992Leu) c.3922A>C (p.Ile1308Leu) c.3919A>C (p.Ile1307Leu) c.3838A>C (p.Ile1280Leu) c.3769A>C (p.Ile1257Leu) c.3637A>C (p.Ile1213Leu) c.3505A>C (p.Ile1169Leu) | |
20 | g.32436370A>G | CA408563524 | ASXL1 | c.3658A>G (p.Ile1220Val) c.3475A>G (p.Ile1159Val) n.6011A>G c.1869+1789A>G (n.1869+1789A>G) c.3643A>G (p.Ile1215Val) c.3655A>G (p.Ile1219Val) c.3628A>G (p.Ile1210Val) c.3574A>G (p.Ile1192Val) c.2974A>G (p.Ile992Val) c.3922A>G (p.Ile1308Val) c.3919A>G (p.Ile1307Val) c.3838A>G (p.Ile1280Val) c.3769A>G (p.Ile1257Val) c.3637A>G (p.Ile1213Val) c.3505A>G (p.Ile1169Val) | |
20 | g.32436370A>T | CA9808871 | ASXL1 | c.3658A>T (p.Ile1220Phe) c.3475A>T (p.Ile1159Phe) n.6011A>T c.1869+1789A>T (n.1869+1789A>T) c.3643A>T (p.Ile1215Phe) c.3655A>T (p.Ile1219Phe) c.3628A>T (p.Ile1210Phe) c.3574A>T (p.Ile1192Phe) c.2974A>T (p.Ile992Phe) c.3922A>T (p.Ile1308Phe) c.3919A>T (p.Ile1307Phe) c.3838A>T (p.Ile1280Phe) c.3769A>T (p.Ile1257Phe) c.3637A>T (p.Ile1213Phe) c.3505A>T (p.Ile1169Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.32436371T>A | CA408563525 | ASXL1 | c.3659T>A (p.Ile1220Asn) c.3476T>A (p.Ile1159Asn) n.6012T>A c.1869+1790T>A (n.1869+1790T>A) c.3644T>A (p.Ile1215Asn) c.3656T>A (p.Ile1219Asn) c.3629T>A (p.Ile1210Asn) c.3575T>A (p.Ile1192Asn) c.2975T>A (p.Ile992Asn) c.3923T>A (p.Ile1308Asn) c.3920T>A (p.Ile1307Asn) c.3839T>A (p.Ile1280Asn) c.3770T>A (p.Ile1257Asn) c.3638T>A (p.Ile1213Asn) c.3506T>A (p.Ile1169Asn) | |
20 | g.32436371T>C | CA408563526 | ASXL1 | c.3659T>C (p.Ile1220Thr) c.3476T>C (p.Ile1159Thr) n.6012T>C c.1869+1790T>C (n.1869+1790T>C) c.3644T>C (p.Ile1215Thr) c.3656T>C (p.Ile1219Thr) c.3629T>C (p.Ile1210Thr) c.3575T>C (p.Ile1192Thr) c.2975T>C (p.Ile992Thr) c.3923T>C (p.Ile1308Thr) c.3920T>C (p.Ile1307Thr) c.3839T>C (p.Ile1280Thr) c.3770T>C (p.Ile1257Thr) c.3638T>C (p.Ile1213Thr) c.3506T>C (p.Ile1169Thr) | |
20 | g.32436371T>G | CA408563527 | ASXL1 | c.3659T>G (p.Ile1220Ser) c.3476T>G (p.Ile1159Ser) n.6012T>G c.1869+1790T>G (n.1869+1790T>G) c.3644T>G (p.Ile1215Ser) c.3656T>G (p.Ile1219Ser) c.3629T>G (p.Ile1210Ser) c.3575T>G (p.Ile1192Ser) c.2975T>G (p.Ile992Ser) c.3923T>G (p.Ile1308Ser) c.3920T>G (p.Ile1307Ser) c.3839T>G (p.Ile1280Ser) c.3770T>G (p.Ile1257Ser) c.3638T>G (p.Ile1213Ser) c.3506T>G (p.Ile1169Ser) | |
20 | g.32436372T>A | CA510467400 | ASXL1 | c.3660T>A (p.Ile1220=) c.3477T>A (p.Ile1159=) n.6013T>A c.1869+1791T>A (n.1869+1791T>A) c.3645T>A (p.Ile1215=) c.3657T>A (p.Ile1219=) c.3630T>A (p.Ile1210=) c.3576T>A (p.Ile1192=) c.2976T>A (p.Ile992=) c.3924T>A (p.Ile1308=) c.3921T>A (p.Ile1307=) c.3840T>A (p.Ile1280=) c.3771T>A (p.Ile1257=) c.3639T>A (p.Ile1213=) c.3507T>A (p.Ile1169=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436372T>C | CA510467402 | ASXL1 | c.3660T>C (p.Ile1220=) c.3477T>C (p.Ile1159=) n.6013T>C c.1869+1791T>C (n.1869+1791T>C) c.3645T>C (p.Ile1215=) c.3657T>C (p.Ile1219=) c.3630T>C (p.Ile1210=) c.3576T>C (p.Ile1192=) c.2976T>C (p.Ile992=) c.3924T>C (p.Ile1308=) c.3921T>C (p.Ile1307=) c.3840T>C (p.Ile1280=) c.3771T>C (p.Ile1257=) c.3639T>C (p.Ile1213=) c.3507T>C (p.Ile1169=) | |
20 | g.32436372T>G | CA408563528 | ASXL1 | c.3660T>G (p.Ile1220Met) c.3477T>G (p.Ile1159Met) n.6013T>G c.1869+1791T>G (n.1869+1791T>G) c.3645T>G (p.Ile1215Met) c.3657T>G (p.Ile1219Met) c.3630T>G (p.Ile1210Met) c.3576T>G (p.Ile1192Met) c.2976T>G (p.Ile992Met) c.3924T>G (p.Ile1308Met) c.3921T>G (p.Ile1307Met) c.3840T>G (p.Ile1280Met) c.3771T>G (p.Ile1257Met) c.3639T>G (p.Ile1213Met) c.3507T>G (p.Ile1169Met) | |
20 | g.32436372T= | CA2360293669 | ASXL1 | c.3660T= (p.Ile1220=) c.3477T= (p.Ile1159=) n.6013T= c.1869+1791T= (n.1869+1791T=) c.3645T= (p.Ile1215=) c.3657T= (p.Ile1219=) c.3630T= (p.Ile1210=) c.3576T= (p.Ile1192=) c.2976T= (p.Ile992=) c.3924T= (p.Ile1308=) c.3921T= (p.Ile1307=) c.3840T= (p.Ile1280=) c.3771T= (p.Ile1257=) c.3639T= (p.Ile1213=) c.3507T= (p.Ile1169=) | |
20 | g.32436373A>C | CA408563531 | ASXL1 | c.3661A>C (p.Thr1221Pro) c.3478A>C (p.Thr1160Pro) n.6014A>C c.1869+1792A>C (n.1869+1792A>C) c.3646A>C (p.Thr1216Pro) c.3658A>C (p.Thr1220Pro) c.3631A>C (p.Thr1211Pro) c.3577A>C (p.Thr1193Pro) c.2977A>C (p.Thr993Pro) c.3925A>C (p.Thr1309Pro) c.3922A>C (p.Thr1308Pro) c.3841A>C (p.Thr1281Pro) c.3772A>C (p.Thr1258Pro) c.3640A>C (p.Thr1214Pro) c.3508A>C (p.Thr1170Pro) | |
20 | g.32436373A>G | CA408563530 | ASXL1 | c.3661A>G (p.Thr1221Ala) c.3478A>G (p.Thr1160Ala) n.6014A>G c.1869+1792A>G (n.1869+1792A>G) c.3646A>G (p.Thr1216Ala) c.3658A>G (p.Thr1220Ala) c.3631A>G (p.Thr1211Ala) c.3577A>G (p.Thr1193Ala) c.2977A>G (p.Thr993Ala) c.3925A>G (p.Thr1309Ala) c.3922A>G (p.Thr1308Ala) c.3841A>G (p.Thr1281Ala) c.3772A>G (p.Thr1258Ala) c.3640A>G (p.Thr1214Ala) c.3508A>G (p.Thr1170Ala) | gnomAD v4 |
20 | g.32436373A>T | CA408563529 | ASXL1 | c.3661A>T (p.Thr1221Ser) c.3478A>T (p.Thr1160Ser) n.6014A>T c.1869+1792A>T (n.1869+1792A>T) c.3646A>T (p.Thr1216Ser) c.3658A>T (p.Thr1220Ser) c.3631A>T (p.Thr1211Ser) c.3577A>T (p.Thr1193Ser) c.2977A>T (p.Thr993Ser) c.3925A>T (p.Thr1309Ser) c.3922A>T (p.Thr1308Ser) c.3841A>T (p.Thr1281Ser) c.3772A>T (p.Thr1258Ser) c.3640A>T (p.Thr1214Ser) c.3508A>T (p.Thr1170Ser) | |
20 | g.32436374C>A | CA157008 | ASXL1 | c.3662C>A (p.Thr1221Lys) c.3479C>A (p.Thr1160Lys) n.6015C>A c.1869+1793C>A (n.1869+1793C>A) c.3647C>A (p.Thr1216Lys) c.3659C>A (p.Thr1220Lys) c.3632C>A (p.Thr1211Lys) c.3578C>A (p.Thr1193Lys) c.2978C>A (p.Thr993Lys) c.3926C>A (p.Thr1309Lys) c.3923C>A (p.Thr1308Lys) c.3842C>A (p.Thr1281Lys) c.3773C>A (p.Thr1258Lys) c.3641C>A (p.Thr1214Lys) c.3509C>A (p.Thr1170Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436374C= | CA2360293670 | ASXL1 | c.3662C= (p.Thr1221=) c.3479C= (p.Thr1160=) n.6015C= c.1869+1793C= (n.1869+1793C=) c.3647C= (p.Thr1216=) c.3659C= (p.Thr1220=) c.3632C= (p.Thr1211=) c.3578C= (p.Thr1193=) c.2978C= (p.Thr993=) c.3926C= (p.Thr1309=) c.3923C= (p.Thr1308=) c.3842C= (p.Thr1281=) c.3773C= (p.Thr1258=) c.3641C= (p.Thr1214=) c.3509C= (p.Thr1170=) | |
20 | g.32436374C>G | CA408563532 | ASXL1 | c.3662C>G (p.Thr1221Arg) c.3479C>G (p.Thr1160Arg) n.6015C>G c.1869+1793C>G (n.1869+1793C>G) c.3647C>G (p.Thr1216Arg) c.3659C>G (p.Thr1220Arg) c.3632C>G (p.Thr1211Arg) c.3578C>G (p.Thr1193Arg) c.2978C>G (p.Thr993Arg) c.3926C>G (p.Thr1309Arg) c.3923C>G (p.Thr1308Arg) c.3842C>G (p.Thr1281Arg) c.3773C>G (p.Thr1258Arg) c.3641C>G (p.Thr1214Arg) c.3509C>G (p.Thr1170Arg) | |
20 | g.32436374C>T | CA408563533 | ASXL1 | c.3662C>T (p.Thr1221Ile) c.3479C>T (p.Thr1160Ile) n.6015C>T c.1869+1793C>T (n.1869+1793C>T) c.3647C>T (p.Thr1216Ile) c.3659C>T (p.Thr1220Ile) c.3632C>T (p.Thr1211Ile) c.3578C>T (p.Thr1193Ile) c.2978C>T (p.Thr993Ile) c.3926C>T (p.Thr1309Ile) c.3923C>T (p.Thr1308Ile) c.3842C>T (p.Thr1281Ile) c.3773C>T (p.Thr1258Ile) c.3641C>T (p.Thr1214Ile) c.3509C>T (p.Thr1170Ile) | dbSNP gnomAD v4 |
20 | g.32436375A= | CA2360293671 | ASXL1 | c.3663A= (p.Thr1221=) c.3480A= (p.Thr1160=) n.6016A= c.1869+1794A= (n.1869+1794A=) c.3648A= (p.Thr1216=) c.3660A= (p.Thr1220=) c.3633A= (p.Thr1211=) c.3579A= (p.Thr1193=) c.2979A= (p.Thr993=) c.3927A= (p.Thr1309=) c.3924A= (p.Thr1308=) c.3843A= (p.Thr1281=) c.3774A= (p.Thr1258=) c.3642A= (p.Thr1214=) c.3510A= (p.Thr1170=) | |
20 | g.32436375A>C | CA9808872 | ASXL1 | c.3663A>C (p.Thr1221=) c.3480A>C (p.Thr1160=) n.6016A>C c.1869+1794A>C (n.1869+1794A>C) c.3648A>C (p.Thr1216=) c.3660A>C (p.Thr1220=) c.3633A>C (p.Thr1211=) c.3579A>C (p.Thr1193=) c.2979A>C (p.Thr993=) c.3927A>C (p.Thr1309=) c.3924A>C (p.Thr1308=) c.3843A>C (p.Thr1281=) c.3774A>C (p.Thr1258=) c.3642A>C (p.Thr1214=) c.3510A>C (p.Thr1170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436375A>G | CA510467405 | ASXL1 | c.3663A>G (p.Thr1221=) c.3480A>G (p.Thr1160=) n.6016A>G c.1869+1794A>G (n.1869+1794A>G) c.3648A>G (p.Thr1216=) c.3660A>G (p.Thr1220=) c.3633A>G (p.Thr1211=) c.3579A>G (p.Thr1193=) c.2979A>G (p.Thr993=) c.3927A>G (p.Thr1309=) c.3924A>G (p.Thr1308=) c.3843A>G (p.Thr1281=) c.3774A>G (p.Thr1258=) c.3642A>G (p.Thr1214=) c.3510A>G (p.Thr1170=) | ClinVar gnomAD v4 |
20 | g.32436375A>T | CA510467407 | ASXL1 | c.3663A>T (p.Thr1221=) c.3480A>T (p.Thr1160=) n.6016A>T c.1869+1794A>T (n.1869+1794A>T) c.3648A>T (p.Thr1216=) c.3660A>T (p.Thr1220=) c.3633A>T (p.Thr1211=) c.3579A>T (p.Thr1193=) c.2979A>T (p.Thr993=) c.3927A>T (p.Thr1309=) c.3924A>T (p.Thr1308=) c.3843A>T (p.Thr1281=) c.3774A>T (p.Thr1258=) c.3642A>T (p.Thr1214=) c.3510A>T (p.Thr1170=) | |
20 | g.32436376del | CA2816151306 | ASXL1 | c.3664del (p.Ser1222ProfsTer?) c.3481del (p.Ser1161ProfsTer?) n.6017del c.1869+1795del (n.1869+1795del) c.3649del (p.Ser1217ProfsTer?) c.3661del (p.Ser1221ProfsTer?) c.3634del (p.Ser1212ProfsTer?) c.3580del (p.Ser1194ProfsTer?) c.2980del (p.Ser994ProfsTer?) c.3928del (p.Ser1310ProfsTer?) c.3925del (p.Ser1309ProfsTer?) c.3844del (p.Ser1282ProfsTer?) c.3775del (p.Ser1259ProfsTer?) c.3643del (p.Ser1215ProfsTer?) c.3511del (p.Ser1171ProfsTer?) | |
20 | g.32436376T>A | CA408563534 | ASXL1 | c.3664T>A (p.Ser1222Thr) c.3481T>A (p.Ser1161Thr) n.6017T>A c.1869+1795T>A (n.1869+1795T>A) c.3649T>A (p.Ser1217Thr) c.3661T>A (p.Ser1221Thr) c.3634T>A (p.Ser1212Thr) c.3580T>A (p.Ser1194Thr) c.2980T>A (p.Ser994Thr) c.3928T>A (p.Ser1310Thr) c.3925T>A (p.Ser1309Thr) c.3844T>A (p.Ser1282Thr) c.3775T>A (p.Ser1259Thr) c.3643T>A (p.Ser1215Thr) c.3511T>A (p.Ser1171Thr) | |
20 | g.32436376T>C | CA408563535 | ASXL1 | c.3664T>C (p.Ser1222Pro) c.3481T>C (p.Ser1161Pro) n.6017T>C c.1869+1795T>C (n.1869+1795T>C) c.3649T>C (p.Ser1217Pro) c.3661T>C (p.Ser1221Pro) c.3634T>C (p.Ser1212Pro) c.3580T>C (p.Ser1194Pro) c.2980T>C (p.Ser994Pro) c.3928T>C (p.Ser1310Pro) c.3925T>C (p.Ser1309Pro) c.3844T>C (p.Ser1282Pro) c.3775T>C (p.Ser1259Pro) c.3643T>C (p.Ser1215Pro) c.3511T>C (p.Ser1171Pro) | |
20 | g.32436376T>G | CA9808873 | ASXL1 | c.3664T>G (p.Ser1222Ala) c.3481T>G (p.Ser1161Ala) n.6017T>G c.1869+1795T>G (n.1869+1795T>G) c.3649T>G (p.Ser1217Ala) c.3661T>G (p.Ser1221Ala) c.3634T>G (p.Ser1212Ala) c.3580T>G (p.Ser1194Ala) c.2980T>G (p.Ser994Ala) c.3928T>G (p.Ser1310Ala) c.3925T>G (p.Ser1309Ala) c.3844T>G (p.Ser1282Ala) c.3775T>G (p.Ser1259Ala) c.3643T>G (p.Ser1215Ala) c.3511T>G (p.Ser1171Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436376T= | CA2360293672 | ASXL1 | c.3664T= (p.Ser1222=) c.3481T= (p.Ser1161=) n.6017T= c.1869+1795T= (n.1869+1795T=) c.3649T= (p.Ser1217=) c.3661T= (p.Ser1221=) c.3634T= (p.Ser1212=) c.3580T= (p.Ser1194=) c.2980T= (p.Ser994=) c.3928T= (p.Ser1310=) c.3925T= (p.Ser1309=) c.3844T= (p.Ser1282=) c.3775T= (p.Ser1259=) c.3643T= (p.Ser1215=) c.3511T= (p.Ser1171=) | |
20 | g.32436378_32436380del | CA2652401236 | ASXL1 | c.3666_3668del (p.Ser1223del) c.3483_3485del (p.Ser1162del) n.6019_6021del c.1869+1797_1869+1799del (n.1869+1797_1869+1799del) c.3651_3653del (p.Ser1218del) c.3663_3665del (p.Ser1222del) c.3636_3638del (p.Ser1213del) c.3582_3584del (p.Ser1195del) c.2982_2984del (p.Ser995del) c.3930_3932del (p.Ser1311del) c.3927_3929del (p.Ser1310del) c.3846_3848del (p.Ser1283del) c.3777_3779del (p.Ser1260del) c.3645_3647del (p.Ser1216del) c.3513_3515del (p.Ser1172del) | gnomAD v4 |
20 | g.32436377C>A | CA408563536 | ASXL1 | c.3665C>A (p.Ser1222Tyr) c.3482C>A (p.Ser1161Tyr) n.6018C>A c.1869+1796C>A (n.1869+1796C>A) c.3650C>A (p.Ser1217Tyr) c.3662C>A (p.Ser1221Tyr) c.3635C>A (p.Ser1212Tyr) c.3581C>A (p.Ser1194Tyr) c.2981C>A (p.Ser994Tyr) c.3929C>A (p.Ser1310Tyr) c.3926C>A (p.Ser1309Tyr) c.3845C>A (p.Ser1282Tyr) c.3776C>A (p.Ser1259Tyr) c.3644C>A (p.Ser1215Tyr) c.3512C>A (p.Ser1171Tyr) | |
20 | g.32436377C= | CA2360293673 | ASXL1 | c.3665C= (p.Ser1222=) c.3482C= (p.Ser1161=) n.6018C= c.1869+1796C= (n.1869+1796C=) c.3650C= (p.Ser1217=) c.3662C= (p.Ser1221=) c.3635C= (p.Ser1212=) c.3581C= (p.Ser1194=) c.2981C= (p.Ser994=) c.3929C= (p.Ser1310=) c.3926C= (p.Ser1309=) c.3845C= (p.Ser1282=) c.3776C= (p.Ser1259=) c.3644C= (p.Ser1215=) c.3512C= (p.Ser1171=) | |
20 | g.32436377C>G | CA408563537 | ASXL1 | c.3665C>G (p.Ser1222Cys) c.3482C>G (p.Ser1161Cys) n.6018C>G c.1869+1796C>G (n.1869+1796C>G) c.3650C>G (p.Ser1217Cys) c.3662C>G (p.Ser1221Cys) c.3635C>G (p.Ser1212Cys) c.3581C>G (p.Ser1194Cys) c.2981C>G (p.Ser994Cys) c.3929C>G (p.Ser1310Cys) c.3926C>G (p.Ser1309Cys) c.3845C>G (p.Ser1282Cys) c.3776C>G (p.Ser1259Cys) c.3644C>G (p.Ser1215Cys) c.3512C>G (p.Ser1171Cys) | |
20 | g.32436377C>T | CA408563538 | ASXL1 | c.3665C>T (p.Ser1222Phe) c.3482C>T (p.Ser1161Phe) n.6018C>T c.1869+1796C>T (n.1869+1796C>T) c.3650C>T (p.Ser1217Phe) c.3662C>T (p.Ser1221Phe) c.3635C>T (p.Ser1212Phe) c.3581C>T (p.Ser1194Phe) c.2981C>T (p.Ser994Phe) c.3929C>T (p.Ser1310Phe) c.3926C>T (p.Ser1309Phe) c.3845C>T (p.Ser1282Phe) c.3776C>T (p.Ser1259Phe) c.3644C>T (p.Ser1215Phe) c.3512C>T (p.Ser1171Phe) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436378C>A | CA510467410 | ASXL1 | c.3666C>A (p.Ser1222=) c.3483C>A (p.Ser1161=) n.6019C>A c.1869+1797C>A (n.1869+1797C>A) c.3651C>A (p.Ser1217=) c.3663C>A (p.Ser1221=) c.3636C>A (p.Ser1212=) c.3582C>A (p.Ser1194=) c.2982C>A (p.Ser994=) c.3930C>A (p.Ser1310=) c.3927C>A (p.Ser1309=) c.3846C>A (p.Ser1282=) c.3777C>A (p.Ser1259=) c.3645C>A (p.Ser1215=) c.3513C>A (p.Ser1171=) | |
20 | g.32436378C= | CA2360293674 | ASXL1 | c.3666C= (p.Ser1222=) c.3483C= (p.Ser1161=) n.6019C= c.1869+1797C= (n.1869+1797C=) c.3651C= (p.Ser1217=) c.3663C= (p.Ser1221=) c.3636C= (p.Ser1212=) c.3582C= (p.Ser1194=) c.2982C= (p.Ser994=) c.3930C= (p.Ser1310=) c.3927C= (p.Ser1309=) c.3846C= (p.Ser1282=) c.3777C= (p.Ser1259=) c.3645C= (p.Ser1215=) c.3513C= (p.Ser1171=) | |
20 | g.32436378C>G | CA510467411 | ASXL1 | c.3666C>G (p.Ser1222=) c.3483C>G (p.Ser1161=) n.6019C>G c.1869+1797C>G (n.1869+1797C>G) c.3651C>G (p.Ser1217=) c.3663C>G (p.Ser1221=) c.3636C>G (p.Ser1212=) c.3582C>G (p.Ser1194=) c.2982C>G (p.Ser994=) c.3930C>G (p.Ser1310=) c.3927C>G (p.Ser1309=) c.3846C>G (p.Ser1282=) c.3777C>G (p.Ser1259=) c.3645C>G (p.Ser1215=) c.3513C>G (p.Ser1171=) | |
20 | g.32436378C>T | CA510467414 | ASXL1 | c.3666C>T (p.Ser1222=) c.3483C>T (p.Ser1161=) n.6019C>T c.1869+1797C>T (n.1869+1797C>T) c.3651C>T (p.Ser1217=) c.3663C>T (p.Ser1221=) c.3636C>T (p.Ser1212=) c.3582C>T (p.Ser1194=) c.2982C>T (p.Ser994=) c.3930C>T (p.Ser1310=) c.3927C>T (p.Ser1309=) c.3846C>T (p.Ser1282=) c.3777C>T (p.Ser1259=) c.3645C>T (p.Ser1215=) c.3513C>T (p.Ser1171=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32436379T>A | CA408563539 | ASXL1 | c.3667T>A (p.Ser1223Thr) c.3484T>A (p.Ser1162Thr) n.6020T>A c.1869+1798T>A (n.1869+1798T>A) c.3652T>A (p.Ser1218Thr) c.3664T>A (p.Ser1222Thr) c.3637T>A (p.Ser1213Thr) c.3583T>A (p.Ser1195Thr) c.2983T>A (p.Ser995Thr) c.3931T>A (p.Ser1311Thr) c.3928T>A (p.Ser1310Thr) c.3847T>A (p.Ser1283Thr) c.3778T>A (p.Ser1260Thr) c.3646T>A (p.Ser1216Thr) c.3514T>A (p.Ser1172Thr) | |
20 | g.32436379T>C | CA408563540 | ASXL1 | c.3667T>C (p.Ser1223Pro) c.3484T>C (p.Ser1162Pro) n.6020T>C c.1869+1798T>C (n.1869+1798T>C) c.3652T>C (p.Ser1218Pro) c.3664T>C (p.Ser1222Pro) c.3637T>C (p.Ser1213Pro) c.3583T>C (p.Ser1195Pro) c.2983T>C (p.Ser995Pro) c.3931T>C (p.Ser1311Pro) c.3928T>C (p.Ser1310Pro) c.3847T>C (p.Ser1283Pro) c.3778T>C (p.Ser1260Pro) c.3646T>C (p.Ser1216Pro) c.3514T>C (p.Ser1172Pro) | |
20 | g.32436379T>G | CA408563541 | ASXL1 | c.3667T>G (p.Ser1223Ala) c.3484T>G (p.Ser1162Ala) n.6020T>G c.1869+1798T>G (n.1869+1798T>G) c.3652T>G (p.Ser1218Ala) c.3664T>G (p.Ser1222Ala) c.3637T>G (p.Ser1213Ala) c.3583T>G (p.Ser1195Ala) c.2983T>G (p.Ser995Ala) c.3931T>G (p.Ser1311Ala) c.3928T>G (p.Ser1310Ala) c.3847T>G (p.Ser1283Ala) c.3778T>G (p.Ser1260Ala) c.3646T>G (p.Ser1216Ala) c.3514T>G (p.Ser1172Ala) | gnomAD v4 |
20 | g.32436380C>A | CA408563543 | ASXL1 | c.3668C>A (p.Ser1223Tyr) c.3485C>A (p.Ser1162Tyr) n.6021C>A c.1869+1799C>A (n.1869+1799C>A) c.3653C>A (p.Ser1218Tyr) c.3665C>A (p.Ser1222Tyr) c.3638C>A (p.Ser1213Tyr) c.3584C>A (p.Ser1195Tyr) c.2984C>A (p.Ser995Tyr) c.3932C>A (p.Ser1311Tyr) c.3929C>A (p.Ser1310Tyr) c.3848C>A (p.Ser1283Tyr) c.3779C>A (p.Ser1260Tyr) c.3647C>A (p.Ser1216Tyr) c.3515C>A (p.Ser1172Tyr) | |
20 | g.32436380C= | CA2360293675 | ASXL1 | c.3668C= (p.Ser1223=) c.3485C= (p.Ser1162=) n.6021C= c.1869+1799C= (n.1869+1799C=) c.3653C= (p.Ser1218=) c.3665C= (p.Ser1222=) c.3638C= (p.Ser1213=) c.3584C= (p.Ser1195=) c.2984C= (p.Ser995=) c.3932C= (p.Ser1311=) c.3929C= (p.Ser1310=) c.3848C= (p.Ser1283=) c.3779C= (p.Ser1260=) c.3647C= (p.Ser1216=) c.3515C= (p.Ser1172=) | |
20 | g.32436380C>G | CA408563544 | ASXL1 | c.3668C>G (p.Ser1223Cys) c.3485C>G (p.Ser1162Cys) n.6021C>G c.1869+1799C>G (n.1869+1799C>G) c.3653C>G (p.Ser1218Cys) c.3665C>G (p.Ser1222Cys) c.3638C>G (p.Ser1213Cys) c.3584C>G (p.Ser1195Cys) c.2984C>G (p.Ser995Cys) c.3932C>G (p.Ser1311Cys) c.3929C>G (p.Ser1310Cys) c.3848C>G (p.Ser1283Cys) c.3779C>G (p.Ser1260Cys) c.3647C>G (p.Ser1216Cys) c.3515C>G (p.Ser1172Cys) | |
20 | g.32436380C>T | CA408563542 | ASXL1 | c.3668C>T (p.Ser1223Phe) c.3485C>T (p.Ser1162Phe) n.6021C>T c.1869+1799C>T (n.1869+1799C>T) c.3653C>T (p.Ser1218Phe) c.3665C>T (p.Ser1222Phe) c.3638C>T (p.Ser1213Phe) c.3584C>T (p.Ser1195Phe) c.2984C>T (p.Ser995Phe) c.3932C>T (p.Ser1311Phe) c.3929C>T (p.Ser1310Phe) c.3848C>T (p.Ser1283Phe) c.3779C>T (p.Ser1260Phe) c.3647C>T (p.Ser1216Phe) c.3515C>T (p.Ser1172Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436381T>A | CA510467416 | ASXL1 | c.3669T>A (p.Ser1223=) c.3486T>A (p.Ser1162=) n.6022T>A c.1869+1800T>A (n.1869+1800T>A) c.3654T>A (p.Ser1218=) c.3666T>A (p.Ser1222=) c.3639T>A (p.Ser1213=) c.3585T>A (p.Ser1195=) c.2985T>A (p.Ser995=) c.3933T>A (p.Ser1311=) c.3930T>A (p.Ser1310=) c.3849T>A (p.Ser1283=) c.3780T>A (p.Ser1260=) c.3648T>A (p.Ser1216=) c.3516T>A (p.Ser1172=) | |
20 | g.32436381T>C | CA510467417 | ASXL1 | c.3669T>C (p.Ser1223=) c.3486T>C (p.Ser1162=) n.6022T>C c.1869+1800T>C (n.1869+1800T>C) c.3654T>C (p.Ser1218=) c.3666T>C (p.Ser1222=) c.3639T>C (p.Ser1213=) c.3585T>C (p.Ser1195=) c.2985T>C (p.Ser995=) c.3933T>C (p.Ser1311=) c.3930T>C (p.Ser1310=) c.3849T>C (p.Ser1283=) c.3780T>C (p.Ser1260=) c.3648T>C (p.Ser1216=) c.3516T>C (p.Ser1172=) | |
20 | g.32436381T>G | CA510467418 | ASXL1 | c.3669T>G (p.Ser1223=) c.3486T>G (p.Ser1162=) n.6022T>G c.1869+1800T>G (n.1869+1800T>G) c.3654T>G (p.Ser1218=) c.3666T>G (p.Ser1222=) c.3639T>G (p.Ser1213=) c.3585T>G (p.Ser1195=) c.2985T>G (p.Ser995=) c.3933T>G (p.Ser1311=) c.3930T>G (p.Ser1310=) c.3849T>G (p.Ser1283=) c.3780T>G (p.Ser1260=) c.3648T>G (p.Ser1216=) c.3516T>G (p.Ser1172=) | |
20 | g.32436382A>C | CA510467420 | ASXL1 | c.3670A>C (p.Arg1224=) c.3487A>C (p.Arg1163=) n.6023A>C c.1869+1801A>C (n.1869+1801A>C) c.3655A>C (p.Arg1219=) c.3667A>C (p.Arg1223=) c.3640A>C (p.Arg1214=) c.3586A>C (p.Arg1196=) c.2986A>C (p.Arg996=) c.3934A>C (p.Arg1312=) c.3931A>C (p.Arg1311=) c.3850A>C (p.Arg1284=) c.3781A>C (p.Arg1261=) c.3649A>C (p.Arg1217=) c.3517A>C (p.Arg1173=) | |
20 | g.32436382A>G | CA408563545 | ASXL1 | c.3670A>G (p.Arg1224Gly) c.3487A>G (p.Arg1163Gly) n.6023A>G c.1869+1801A>G (n.1869+1801A>G) c.3655A>G (p.Arg1219Gly) c.3667A>G (p.Arg1223Gly) c.3640A>G (p.Arg1214Gly) c.3586A>G (p.Arg1196Gly) c.2986A>G (p.Arg996Gly) c.3934A>G (p.Arg1312Gly) c.3931A>G (p.Arg1311Gly) c.3850A>G (p.Arg1284Gly) c.3781A>G (p.Arg1261Gly) c.3649A>G (p.Arg1217Gly) c.3517A>G (p.Arg1173Gly) | gnomAD v4 |
20 | g.32436382A>T | CA408563546 | ASXL1 | c.3670A>T (p.Arg1224Trp) c.3487A>T (p.Arg1163Trp) n.6023A>T c.1869+1801A>T (n.1869+1801A>T) c.3655A>T (p.Arg1219Trp) c.3667A>T (p.Arg1223Trp) c.3640A>T (p.Arg1214Trp) c.3586A>T (p.Arg1196Trp) c.2986A>T (p.Arg996Trp) c.3934A>T (p.Arg1312Trp) c.3931A>T (p.Arg1311Trp) c.3850A>T (p.Arg1284Trp) c.3781A>T (p.Arg1261Trp) c.3649A>T (p.Arg1217Trp) c.3517A>T (p.Arg1173Trp) | |
20 | g.32436383G>A | CA408563547 | ASXL1 | c.3671G>A (p.Arg1224Lys) c.3488G>A (p.Arg1163Lys) n.6024G>A c.1869+1802G>A (n.1869+1802G>A) c.3656G>A (p.Arg1219Lys) c.3668G>A (p.Arg1223Lys) c.3641G>A (p.Arg1214Lys) c.3587G>A (p.Arg1196Lys) c.2987G>A (p.Arg996Lys) c.3935G>A (p.Arg1312Lys) c.3932G>A (p.Arg1311Lys) c.3851G>A (p.Arg1284Lys) c.3782G>A (p.Arg1261Lys) c.3650G>A (p.Arg1217Lys) c.3518G>A (p.Arg1173Lys) | |
20 | g.32436383G>C | CA9808874 | ASXL1 | c.3671G>C (p.Arg1224Thr) c.3488G>C (p.Arg1163Thr) n.6024G>C c.1869+1802G>C (n.1869+1802G>C) c.3656G>C (p.Arg1219Thr) c.3668G>C (p.Arg1223Thr) c.3641G>C (p.Arg1214Thr) c.3587G>C (p.Arg1196Thr) c.2987G>C (p.Arg996Thr) c.3935G>C (p.Arg1312Thr) c.3932G>C (p.Arg1311Thr) c.3851G>C (p.Arg1284Thr) c.3782G>C (p.Arg1261Thr) c.3650G>C (p.Arg1217Thr) c.3518G>C (p.Arg1173Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.32436383G= | CA2360293676 | ASXL1 | c.3671G= (p.Arg1224=) c.3488G= (p.Arg1163=) n.6024G= c.1869+1802G= (n.1869+1802G=) c.3656G= (p.Arg1219=) c.3668G= (p.Arg1223=) c.3641G= (p.Arg1214=) c.3587G= (p.Arg1196=) c.2987G= (p.Arg996=) c.3935G= (p.Arg1312=) c.3932G= (p.Arg1311=) c.3851G= (p.Arg1284=) c.3782G= (p.Arg1261=) c.3650G= (p.Arg1217=) c.3518G= (p.Arg1173=) | |
20 | g.32436383G>T | CA408563548 | ASXL1 | c.3671G>T (p.Arg1224Met) c.3488G>T (p.Arg1163Met) n.6024G>T c.1869+1802G>T (n.1869+1802G>T) c.3656G>T (p.Arg1219Met) c.3668G>T (p.Arg1223Met) c.3641G>T (p.Arg1214Met) c.3587G>T (p.Arg1196Met) c.2987G>T (p.Arg996Met) c.3935G>T (p.Arg1312Met) c.3932G>T (p.Arg1311Met) c.3851G>T (p.Arg1284Met) c.3782G>T (p.Arg1261Met) c.3650G>T (p.Arg1217Met) c.3518G>T (p.Arg1173Met) | |
20 | g.32436384G>A | CA510467421 | ASXL1 | c.3672G>A (p.Arg1224=) c.3489G>A (p.Arg1163=) n.6025G>A c.1869+1803G>A (n.1869+1803G>A) c.3657G>A (p.Arg1219=) c.3669G>A (p.Arg1223=) c.3642G>A (p.Arg1214=) c.3588G>A (p.Arg1196=) c.2988G>A (p.Arg996=) c.3936G>A (p.Arg1312=) c.3933G>A (p.Arg1311=) c.3852G>A (p.Arg1284=) c.3783G>A (p.Arg1261=) c.3651G>A (p.Arg1217=) c.3519G>A (p.Arg1173=) | |
20 | g.32436384G>C | CA408563549 | ASXL1 | c.3672G>C (p.Arg1224Ser) c.3489G>C (p.Arg1163Ser) n.6025G>C c.1869+1803G>C (n.1869+1803G>C) c.3657G>C (p.Arg1219Ser) c.3669G>C (p.Arg1223Ser) c.3642G>C (p.Arg1214Ser) c.3588G>C (p.Arg1196Ser) c.2988G>C (p.Arg996Ser) c.3936G>C (p.Arg1312Ser) c.3933G>C (p.Arg1311Ser) c.3852G>C (p.Arg1284Ser) c.3783G>C (p.Arg1261Ser) c.3651G>C (p.Arg1217Ser) c.3519G>C (p.Arg1173Ser) | dbSNP |
20 | g.32436384G>T | CA408563550 | ASXL1 | c.3672G>T (p.Arg1224Ser) c.3489G>T (p.Arg1163Ser) n.6025G>T c.1869+1803G>T (n.1869+1803G>T) c.3657G>T (p.Arg1219Ser) c.3669G>T (p.Arg1223Ser) c.3642G>T (p.Arg1214Ser) c.3588G>T (p.Arg1196Ser) c.2988G>T (p.Arg996Ser) c.3936G>T (p.Arg1312Ser) c.3933G>T (p.Arg1311Ser) c.3852G>T (p.Arg1284Ser) c.3783G>T (p.Arg1261Ser) c.3651G>T (p.Arg1217Ser) c.3519G>T (p.Arg1173Ser) | dbSNP |
20 | g.32436385A>C | CA408563551 | ASXL1 | c.3673A>C (p.Lys1225Gln) c.3490A>C (p.Lys1164Gln) n.6026A>C c.1869+1804A>C (n.1869+1804A>C) c.3658A>C (p.Lys1220Gln) c.3670A>C (p.Lys1224Gln) c.3643A>C (p.Lys1215Gln) c.3589A>C (p.Lys1197Gln) c.2989A>C (p.Lys997Gln) c.3937A>C (p.Lys1313Gln) c.3934A>C (p.Lys1312Gln) c.3853A>C (p.Lys1285Gln) c.3784A>C (p.Lys1262Gln) c.3652A>C (p.Lys1218Gln) c.3520A>C (p.Lys1174Gln) | |
20 | g.32436385A>G | CA408563552 | ASXL1 | c.3673A>G (p.Lys1225Glu) c.3490A>G (p.Lys1164Glu) n.6026A>G c.1869+1804A>G (n.1869+1804A>G) c.3658A>G (p.Lys1220Glu) c.3670A>G (p.Lys1224Glu) c.3643A>G (p.Lys1215Glu) c.3589A>G (p.Lys1197Glu) c.2989A>G (p.Lys997Glu) c.3937A>G (p.Lys1313Glu) c.3934A>G (p.Lys1312Glu) c.3853A>G (p.Lys1285Glu) c.3784A>G (p.Lys1262Glu) c.3652A>G (p.Lys1218Glu) c.3520A>G (p.Lys1174Glu) | |
20 | g.32436385A>T | CA408563553 | ASXL1 | c.3673A>T (p.Lys1225Ter) c.3490A>T (p.Lys1164Ter) n.6026A>T c.1869+1804A>T (n.1869+1804A>T) c.3658A>T (p.Lys1220Ter) c.3670A>T (p.Lys1224Ter) c.3643A>T (p.Lys1215Ter) c.3589A>T (p.Lys1197Ter) c.2989A>T (p.Lys997Ter) c.3937A>T (p.Lys1313Ter) c.3934A>T (p.Lys1312Ter) c.3853A>T (p.Lys1285Ter) c.3784A>T (p.Lys1262Ter) c.3652A>T (p.Lys1218Ter) c.3520A>T (p.Lys1174Ter) | |
20 | g.32436386A>C | CA408563554 | ASXL1 | c.3674A>C (p.Lys1225Thr) c.3491A>C (p.Lys1164Thr) n.6027A>C c.1869+1805A>C (n.1869+1805A>C) c.3659A>C (p.Lys1220Thr) c.3671A>C (p.Lys1224Thr) c.3644A>C (p.Lys1215Thr) c.3590A>C (p.Lys1197Thr) c.2990A>C (p.Lys997Thr) c.3938A>C (p.Lys1313Thr) c.3935A>C (p.Lys1312Thr) c.3854A>C (p.Lys1285Thr) c.3785A>C (p.Lys1262Thr) c.3653A>C (p.Lys1218Thr) c.3521A>C (p.Lys1174Thr) | |
20 | g.32436386A>G | CA408563555 | ASXL1 | c.3674A>G (p.Lys1225Arg) c.3491A>G (p.Lys1164Arg) n.6027A>G c.1869+1805A>G (n.1869+1805A>G) c.3659A>G (p.Lys1220Arg) c.3671A>G (p.Lys1224Arg) c.3644A>G (p.Lys1215Arg) c.3590A>G (p.Lys1197Arg) c.2990A>G (p.Lys997Arg) c.3938A>G (p.Lys1313Arg) c.3935A>G (p.Lys1312Arg) c.3854A>G (p.Lys1285Arg) c.3785A>G (p.Lys1262Arg) c.3653A>G (p.Lys1218Arg) c.3521A>G (p.Lys1174Arg) | ClinVar dbSNP gnomAD v4 |
20 | g.32436386A>T | CA408563556 | ASXL1 | c.3674A>T (p.Lys1225Ile) c.3491A>T (p.Lys1164Ile) n.6027A>T c.1869+1805A>T (n.1869+1805A>T) c.3659A>T (p.Lys1220Ile) c.3671A>T (p.Lys1224Ile) c.3644A>T (p.Lys1215Ile) c.3590A>T (p.Lys1197Ile) c.2990A>T (p.Lys997Ile) c.3938A>T (p.Lys1313Ile) c.3935A>T (p.Lys1312Ile) c.3854A>T (p.Lys1285Ile) c.3785A>T (p.Lys1262Ile) c.3653A>T (p.Lys1218Ile) c.3521A>T (p.Lys1174Ile) | |
20 | g.32436387A= | CA2360293677 | ASXL1 | c.3675A= (p.Lys1225=) c.3492A= (p.Lys1164=) n.6028A= c.1869+1806A= (n.1869+1806A=) c.3660A= (p.Lys1220=) c.3672A= (p.Lys1224=) c.3645A= (p.Lys1215=) c.3591A= (p.Lys1197=) c.2991A= (p.Lys997=) c.3939A= (p.Lys1313=) c.3936A= (p.Lys1312=) c.3855A= (p.Lys1285=) c.3786A= (p.Lys1262=) c.3654A= (p.Lys1218=) c.3522A= (p.Lys1174=) | |
20 | g.32436387A>C | CA408563557 | ASXL1 | c.3675A>C (p.Lys1225Asn) c.3492A>C (p.Lys1164Asn) n.6028A>C c.1869+1806A>C (n.1869+1806A>C) c.3660A>C (p.Lys1220Asn) c.3672A>C (p.Lys1224Asn) c.3645A>C (p.Lys1215Asn) c.3591A>C (p.Lys1197Asn) c.2991A>C (p.Lys997Asn) c.3939A>C (p.Lys1313Asn) c.3936A>C (p.Lys1312Asn) c.3855A>C (p.Lys1285Asn) c.3786A>C (p.Lys1262Asn) c.3654A>C (p.Lys1218Asn) c.3522A>C (p.Lys1174Asn) | dbSNP gnomAD v4 |
20 | g.32436387A>G | CA510467541 | ASXL1 | c.3675A>G (p.Lys1225=) c.3492A>G (p.Lys1164=) n.6028A>G c.1869+1806A>G (n.1869+1806A>G) c.3660A>G (p.Lys1220=) c.3672A>G (p.Lys1224=) c.3645A>G (p.Lys1215=) c.3591A>G (p.Lys1197=) c.2991A>G (p.Lys997=) c.3939A>G (p.Lys1313=) c.3936A>G (p.Lys1312=) c.3855A>G (p.Lys1285=) c.3786A>G (p.Lys1262=) c.3654A>G (p.Lys1218=) c.3522A>G (p.Lys1174=) | |
20 | g.32436387A>T | CA9808875 | ASXL1 | c.3675A>T (p.Lys1225Asn) c.3492A>T (p.Lys1164Asn) n.6028A>T c.1869+1806A>T (n.1869+1806A>T) c.3660A>T (p.Lys1220Asn) c.3672A>T (p.Lys1224Asn) c.3645A>T (p.Lys1215Asn) c.3591A>T (p.Lys1197Asn) c.2991A>T (p.Lys997Asn) c.3939A>T (p.Lys1313Asn) c.3936A>T (p.Lys1312Asn) c.3855A>T (p.Lys1285Asn) c.3786A>T (p.Lys1262Asn) c.3654A>T (p.Lys1218Asn) c.3522A>T (p.Lys1174Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436388C>A | CA408563558 | ASXL1 | c.3676C>A (p.Leu1226Met) c.3493C>A (p.Leu1165Met) n.6029C>A c.1869+1807C>A (n.1869+1807C>A) c.3661C>A (p.Leu1221Met) c.3673C>A (p.Leu1225Met) c.3646C>A (p.Leu1216Met) c.3592C>A (p.Leu1198Met) c.2992C>A (p.Leu998Met) c.3940C>A (p.Leu1314Met) c.3937C>A (p.Leu1313Met) c.3856C>A (p.Leu1286Met) c.3787C>A (p.Leu1263Met) c.3655C>A (p.Leu1219Met) c.3523C>A (p.Leu1175Met) | |
20 | g.32436388C= | CA2360293678 | ASXL1 | c.3676C= (p.Leu1226=) c.3493C= (p.Leu1165=) n.6029C= c.1869+1807C= (n.1869+1807C=) c.3661C= (p.Leu1221=) c.3673C= (p.Leu1225=) c.3646C= (p.Leu1216=) c.3592C= (p.Leu1198=) c.2992C= (p.Leu998=) c.3940C= (p.Leu1314=) c.3937C= (p.Leu1313=) c.3856C= (p.Leu1286=) c.3787C= (p.Leu1263=) c.3655C= (p.Leu1219=) c.3523C= (p.Leu1175=) | |
20 | g.32436388C>G | CA408563559 | ASXL1 | c.3676C>G (p.Leu1226Val) c.3493C>G (p.Leu1165Val) n.6029C>G c.1869+1807C>G (n.1869+1807C>G) c.3661C>G (p.Leu1221Val) c.3673C>G (p.Leu1225Val) c.3646C>G (p.Leu1216Val) c.3592C>G (p.Leu1198Val) c.2992C>G (p.Leu998Val) c.3940C>G (p.Leu1314Val) c.3937C>G (p.Leu1313Val) c.3856C>G (p.Leu1286Val) c.3787C>G (p.Leu1263Val) c.3655C>G (p.Leu1219Val) c.3523C>G (p.Leu1175Val) | |
20 | g.32436388C>T | CA510467542 | ASXL1 | c.3676C>T (p.Leu1226=) c.3493C>T (p.Leu1165=) n.6029C>T c.1869+1807C>T (n.1869+1807C>T) c.3661C>T (p.Leu1221=) c.3673C>T (p.Leu1225=) c.3646C>T (p.Leu1216=) c.3592C>T (p.Leu1198=) c.2992C>T (p.Leu998=) c.3940C>T (p.Leu1314=) c.3937C>T (p.Leu1313=) c.3856C>T (p.Leu1286=) c.3787C>T (p.Leu1263=) c.3655C>T (p.Leu1219=) c.3523C>T (p.Leu1175=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436389T>A | CA9808876 | ASXL1 | c.3677T>A (p.Leu1226Gln) c.3494T>A (p.Leu1165Gln) n.6030T>A c.1869+1808T>A (n.1869+1808T>A) c.3662T>A (p.Leu1221Gln) c.3674T>A (p.Leu1225Gln) c.3647T>A (p.Leu1216Gln) c.3593T>A (p.Leu1198Gln) c.2993T>A (p.Leu998Gln) c.3941T>A (p.Leu1314Gln) c.3938T>A (p.Leu1313Gln) c.3857T>A (p.Leu1286Gln) c.3788T>A (p.Leu1263Gln) c.3656T>A (p.Leu1219Gln) c.3524T>A (p.Leu1175Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436389T>C | CA408563560 | ASXL1 | c.3677T>C (p.Leu1226Pro) c.3494T>C (p.Leu1165Pro) n.6030T>C c.1869+1808T>C (n.1869+1808T>C) c.3662T>C (p.Leu1221Pro) c.3674T>C (p.Leu1225Pro) c.3647T>C (p.Leu1216Pro) c.3593T>C (p.Leu1198Pro) c.2993T>C (p.Leu998Pro) c.3941T>C (p.Leu1314Pro) c.3938T>C (p.Leu1313Pro) c.3857T>C (p.Leu1286Pro) c.3788T>C (p.Leu1263Pro) c.3656T>C (p.Leu1219Pro) c.3524T>C (p.Leu1175Pro) | |
20 | g.32436389T>G | CA9808877 | ASXL1 | c.3677T>G (p.Leu1226Arg) c.3494T>G (p.Leu1165Arg) n.6030T>G c.1869+1808T>G (n.1869+1808T>G) c.3662T>G (p.Leu1221Arg) c.3674T>G (p.Leu1225Arg) c.3647T>G (p.Leu1216Arg) c.3593T>G (p.Leu1198Arg) c.2993T>G (p.Leu998Arg) c.3941T>G (p.Leu1314Arg) c.3938T>G (p.Leu1313Arg) c.3857T>G (p.Leu1286Arg) c.3788T>G (p.Leu1263Arg) c.3656T>G (p.Leu1219Arg) c.3524T>G (p.Leu1175Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32436389T= | CA2360293679 | ASXL1 | c.3677T= (p.Leu1226=) c.3494T= (p.Leu1165=) n.6030T= c.1869+1808T= (n.1869+1808T=) c.3662T= (p.Leu1221=) c.3674T= (p.Leu1225=) c.3647T= (p.Leu1216=) c.3593T= (p.Leu1198=) c.2993T= (p.Leu998=) c.3941T= (p.Leu1314=) c.3938T= (p.Leu1313=) c.3857T= (p.Leu1286=) c.3788T= (p.Leu1263=) c.3656T= (p.Leu1219=) c.3524T= (p.Leu1175=) | |
20 | g.32436389_32436390del | CA2580098169 | ASXL1 | c.3677_3678del (p.Leu1226ArgfsTer13) c.3494_3495del (p.Leu1165ArgfsTer13) n.6030_6031del c.1869+1808_1869+1809del (n.1869+1808_1869+1809del) c.3662_3663del (p.Leu1221ArgfsTer13) c.3674_3675del (p.Leu1225ArgfsTer13) c.3647_3648del (p.Leu1216ArgfsTer13) c.3593_3594del (p.Leu1198ArgfsTer13) c.2993_2994del (p.Leu998ArgfsTer13) c.3941_3942del (p.Leu1314ArgfsTer13) c.3938_3939del (p.Leu1313ArgfsTer13) c.3857_3858del (p.Leu1286ArgfsTer13) c.3788_3789del (p.Leu1263ArgfsTer13) c.3656_3657del (p.Leu1219ArgfsTer13) c.3524_3525del (p.Leu1175ArgfsTer13) | ClinVar |
20 | g.32436390G>A | CA510467547 | ASXL1 | c.3678G>A (p.Leu1226=) c.3495G>A (p.Leu1165=) n.6031G>A c.1869+1809G>A (n.1869+1809G>A) c.3663G>A (p.Leu1221=) c.3675G>A (p.Leu1225=) c.3648G>A (p.Leu1216=) c.3594G>A (p.Leu1198=) c.2994G>A (p.Leu998=) c.3942G>A (p.Leu1314=) c.3939G>A (p.Leu1313=) c.3858G>A (p.Leu1286=) c.3789G>A (p.Leu1263=) c.3657G>A (p.Leu1219=) c.3525G>A (p.Leu1175=) | gnomAD v4 |
20 | g.32436390G>C | CA510467545 | ASXL1 | c.3678G>C (p.Leu1226=) c.3495G>C (p.Leu1165=) n.6031G>C c.1869+1809G>C (n.1869+1809G>C) c.3663G>C (p.Leu1221=) c.3675G>C (p.Leu1225=) c.3648G>C (p.Leu1216=) c.3594G>C (p.Leu1198=) c.2994G>C (p.Leu998=) c.3942G>C (p.Leu1314=) c.3939G>C (p.Leu1313=) c.3858G>C (p.Leu1286=) c.3789G>C (p.Leu1263=) c.3657G>C (p.Leu1219=) c.3525G>C (p.Leu1175=) | |
20 | g.32436390G>T | CA510467546 | ASXL1 | c.3678G>T (p.Leu1226=) c.3495G>T (p.Leu1165=) n.6031G>T c.1869+1809G>T (n.1869+1809G>T) c.3663G>T (p.Leu1221=) c.3675G>T (p.Leu1225=) c.3648G>T (p.Leu1216=) c.3594G>T (p.Leu1198=) c.2994G>T (p.Leu998=) c.3942G>T (p.Leu1314=) c.3939G>T (p.Leu1313=) c.3858G>T (p.Leu1286=) c.3789G>T (p.Leu1263=) c.3657G>T (p.Leu1219=) c.3525G>T (p.Leu1175=) | |
20 | g.32436391G>A | CA9808878 | ASXL1 | c.3679G>A (p.Glu1227Lys) c.3496G>A (p.Glu1166Lys) n.6032G>A c.1869+1810G>A (n.1869+1810G>A) c.3664G>A (p.Glu1222Lys) c.3676G>A (p.Glu1226Lys) c.3649G>A (p.Glu1217Lys) c.3595G>A (p.Glu1199Lys) c.2995G>A (p.Glu999Lys) c.3943G>A (p.Glu1315Lys) c.3940G>A (p.Glu1314Lys) c.3859G>A (p.Glu1287Lys) c.3790G>A (p.Glu1264Lys) c.3658G>A (p.Glu1220Lys) c.3526G>A (p.Glu1176Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32436391G>C | CA408563561 | ASXL1 | c.3679G>C (p.Glu1227Gln) c.3496G>C (p.Glu1166Gln) n.6032G>C c.1869+1810G>C (n.1869+1810G>C) c.3664G>C (p.Glu1222Gln) c.3676G>C (p.Glu1226Gln) c.3649G>C (p.Glu1217Gln) c.3595G>C (p.Glu1199Gln) c.2995G>C (p.Glu999Gln) c.3943G>C (p.Glu1315Gln) c.3940G>C (p.Glu1314Gln) c.3859G>C (p.Glu1287Gln) c.3790G>C (p.Glu1264Gln) c.3658G>C (p.Glu1220Gln) c.3526G>C (p.Glu1176Gln) | |
20 | g.32436391G= | CA2360293680 | ASXL1 | c.3679G= (p.Glu1227=) c.3496G= (p.Glu1166=) n.6032G= c.1869+1810G= (n.1869+1810G=) c.3664G= (p.Glu1222=) c.3676G= (p.Glu1226=) c.3649G= (p.Glu1217=) c.3595G= (p.Glu1199=) c.2995G= (p.Glu999=) c.3943G= (p.Glu1315=) c.3940G= (p.Glu1314=) c.3859G= (p.Glu1287=) c.3790G= (p.Glu1264=) c.3658G= (p.Glu1220=) c.3526G= (p.Glu1176=) | |
20 | g.32436391G>T | CA408563562 | ASXL1 | c.3679G>T (p.Glu1227Ter) c.3496G>T (p.Glu1166Ter) n.6032G>T c.1869+1810G>T (n.1869+1810G>T) c.3664G>T (p.Glu1222Ter) c.3676G>T (p.Glu1226Ter) c.3649G>T (p.Glu1217Ter) c.3595G>T (p.Glu1199Ter) c.2995G>T (p.Glu999Ter) c.3943G>T (p.Glu1315Ter) c.3940G>T (p.Glu1314Ter) c.3859G>T (p.Glu1287Ter) c.3790G>T (p.Glu1264Ter) c.3658G>T (p.Glu1220Ter) c.3526G>T (p.Glu1176Ter) | |
20 | g.32436392A>C | CA408563563 | ASXL1 | c.3680A>C (p.Glu1227Ala) c.3497A>C (p.Glu1166Ala) n.6033A>C c.1869+1811A>C (n.1869+1811A>C) c.3665A>C (p.Glu1222Ala) c.3677A>C (p.Glu1226Ala) c.3650A>C (p.Glu1217Ala) c.3596A>C (p.Glu1199Ala) c.2996A>C (p.Glu999Ala) c.3944A>C (p.Glu1315Ala) c.3941A>C (p.Glu1314Ala) c.3860A>C (p.Glu1287Ala) c.3791A>C (p.Glu1264Ala) c.3659A>C (p.Glu1220Ala) c.3527A>C (p.Glu1176Ala) | |
20 | g.32436392A>G | CA408563564 | ASXL1 | c.3680A>G (p.Glu1227Gly) c.3497A>G (p.Glu1166Gly) n.6033A>G c.1869+1811A>G (n.1869+1811A>G) c.3665A>G (p.Glu1222Gly) c.3677A>G (p.Glu1226Gly) c.3650A>G (p.Glu1217Gly) c.3596A>G (p.Glu1199Gly) c.2996A>G (p.Glu999Gly) c.3944A>G (p.Glu1315Gly) c.3941A>G (p.Glu1314Gly) c.3860A>G (p.Glu1287Gly) c.3791A>G (p.Glu1264Gly) c.3659A>G (p.Glu1220Gly) c.3527A>G (p.Glu1176Gly) | |
20 | g.32436392A>T | CA408563565 | ASXL1 | c.3680A>T (p.Glu1227Val) c.3497A>T (p.Glu1166Val) n.6033A>T c.1869+1811A>T (n.1869+1811A>T) c.3665A>T (p.Glu1222Val) c.3677A>T (p.Glu1226Val) c.3650A>T (p.Glu1217Val) c.3596A>T (p.Glu1199Val) c.2996A>T (p.Glu999Val) c.3944A>T (p.Glu1315Val) c.3941A>T (p.Glu1314Val) c.3860A>T (p.Glu1287Val) c.3791A>T (p.Glu1264Val) c.3659A>T (p.Glu1220Val) c.3527A>T (p.Glu1176Val) | |
20 | g.32436393A= | CA2360293681 | ASXL1 | c.3681A= (p.Glu1227=) c.3498A= (p.Glu1166=) n.6034A= c.1869+1812A= (n.1869+1812A=) c.3666A= (p.Glu1222=) c.3678A= (p.Glu1226=) c.3651A= (p.Glu1217=) c.3597A= (p.Glu1199=) c.2997A= (p.Glu999=) c.3945A= (p.Glu1315=) c.3942A= (p.Glu1314=) c.3861A= (p.Glu1287=) c.3792A= (p.Glu1264=) c.3660A= (p.Glu1220=) c.3528A= (p.Glu1176=) | |
20 | g.32436393A>C | CA408563566 | ASXL1 | c.3681A>C (p.Glu1227Asp) c.3498A>C (p.Glu1166Asp) n.6034A>C c.1869+1812A>C (n.1869+1812A>C) c.3666A>C (p.Glu1222Asp) c.3678A>C (p.Glu1226Asp) c.3651A>C (p.Glu1217Asp) c.3597A>C (p.Glu1199Asp) c.2997A>C (p.Glu999Asp) c.3945A>C (p.Glu1315Asp) c.3942A>C (p.Glu1314Asp) c.3861A>C (p.Glu1287Asp) c.3792A>C (p.Glu1264Asp) c.3660A>C (p.Glu1220Asp) c.3528A>C (p.Glu1176Asp) | |
20 | g.32436393A>G | CA510467549 | ASXL1 | c.3681A>G (p.Glu1227=) c.3498A>G (p.Glu1166=) n.6034A>G c.1869+1812A>G (n.1869+1812A>G) c.3666A>G (p.Glu1222=) c.3678A>G (p.Glu1226=) c.3651A>G (p.Glu1217=) c.3597A>G (p.Glu1199=) c.2997A>G (p.Glu999=) c.3945A>G (p.Glu1315=) c.3942A>G (p.Glu1314=) c.3861A>G (p.Glu1287=) c.3792A>G (p.Glu1264=) c.3660A>G (p.Glu1220=) c.3528A>G (p.Glu1176=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32436393A>T | CA408563567 | ASXL1 | c.3681A>T (p.Glu1227Asp) c.3498A>T (p.Glu1166Asp) n.6034A>T c.1869+1812A>T (n.1869+1812A>T) c.3666A>T (p.Glu1222Asp) c.3678A>T (p.Glu1226Asp) c.3651A>T (p.Glu1217Asp) c.3597A>T (p.Glu1199Asp) c.2997A>T (p.Glu999Asp) c.3945A>T (p.Glu1315Asp) c.3942A>T (p.Glu1314Asp) c.3861A>T (p.Glu1287Asp) c.3792A>T (p.Glu1264Asp) c.3660A>T (p.Glu1220Asp) c.3528A>T (p.Glu1176Asp) | |
20 | g.32436394G>A | CA408563568 | ASXL1 | c.3682G>A (p.Glu1228Lys) c.3499G>A (p.Glu1167Lys) n.6035G>A c.1869+1813G>A (n.1869+1813G>A) c.3667G>A (p.Glu1223Lys) c.3679G>A (p.Glu1227Lys) c.3652G>A (p.Glu1218Lys) c.3598G>A (p.Glu1200Lys) c.2998G>A (p.Glu1000Lys) c.3946G>A (p.Glu1316Lys) c.3943G>A (p.Glu1315Lys) c.3862G>A (p.Glu1288Lys) c.3793G>A (p.Glu1265Lys) c.3661G>A (p.Glu1221Lys) c.3529G>A (p.Glu1177Lys) | dbSNP |
20 | g.32436394G>C | CA408563570 | ASXL1 | c.3682G>C (p.Glu1228Gln) c.3499G>C (p.Glu1167Gln) n.6035G>C c.1869+1813G>C (n.1869+1813G>C) c.3667G>C (p.Glu1223Gln) c.3679G>C (p.Glu1227Gln) c.3652G>C (p.Glu1218Gln) c.3598G>C (p.Glu1200Gln) c.2998G>C (p.Glu1000Gln) c.3946G>C (p.Glu1316Gln) c.3943G>C (p.Glu1315Gln) c.3862G>C (p.Glu1288Gln) c.3793G>C (p.Glu1265Gln) c.3661G>C (p.Glu1221Gln) c.3529G>C (p.Glu1177Gln) | |
20 | g.32436394G>T | CA408563569 | ASXL1 | c.3682G>T (p.Glu1228Ter) c.3499G>T (p.Glu1167Ter) n.6035G>T c.1869+1813G>T (n.1869+1813G>T) c.3667G>T (p.Glu1223Ter) c.3679G>T (p.Glu1227Ter) c.3652G>T (p.Glu1218Ter) c.3598G>T (p.Glu1200Ter) c.2998G>T (p.Glu1000Ter) c.3946G>T (p.Glu1316Ter) c.3943G>T (p.Glu1315Ter) c.3862G>T (p.Glu1288Ter) c.3793G>T (p.Glu1265Ter) c.3661G>T (p.Glu1221Ter) c.3529G>T (p.Glu1177Ter) | dbSNP COSMIC COSMIC |
20 | g.32436395A>C | CA408563571 | ASXL1 | c.3683A>C (p.Glu1228Ala) c.3500A>C (p.Glu1167Ala) n.6036A>C c.1869+1814A>C (n.1869+1814A>C) c.3668A>C (p.Glu1223Ala) c.3680A>C (p.Glu1227Ala) c.3653A>C (p.Glu1218Ala) c.3599A>C (p.Glu1200Ala) c.2999A>C (p.Glu1000Ala) c.3947A>C (p.Glu1316Ala) c.3944A>C (p.Glu1315Ala) c.3863A>C (p.Glu1288Ala) c.3794A>C (p.Glu1265Ala) c.3662A>C (p.Glu1221Ala) c.3530A>C (p.Glu1177Ala) | |
20 | g.32436395A>G | CA408563572 | ASXL1 | c.3683A>G (p.Glu1228Gly) c.3500A>G (p.Glu1167Gly) n.6036A>G c.1869+1814A>G (n.1869+1814A>G) c.3668A>G (p.Glu1223Gly) c.3680A>G (p.Glu1227Gly) c.3653A>G (p.Glu1218Gly) c.3599A>G (p.Glu1200Gly) c.2999A>G (p.Glu1000Gly) c.3947A>G (p.Glu1316Gly) c.3944A>G (p.Glu1315Gly) c.3863A>G (p.Glu1288Gly) c.3794A>G (p.Glu1265Gly) c.3662A>G (p.Glu1221Gly) c.3530A>G (p.Glu1177Gly) | |
20 | g.32436395A>T | CA408563573 | ASXL1 | c.3683A>T (p.Glu1228Val) c.3500A>T (p.Glu1167Val) n.6036A>T c.1869+1814A>T (n.1869+1814A>T) c.3668A>T (p.Glu1223Val) c.3680A>T (p.Glu1227Val) c.3653A>T (p.Glu1218Val) c.3599A>T (p.Glu1200Val) c.2999A>T (p.Glu1000Val) c.3947A>T (p.Glu1316Val) c.3944A>T (p.Glu1315Val) c.3863A>T (p.Glu1288Val) c.3794A>T (p.Glu1265Val) c.3662A>T (p.Glu1221Val) c.3530A>T (p.Glu1177Val) | |
20 | g.32436396A>C | CA408563574 | ASXL1 | c.3684A>C (p.Glu1228Asp) c.3501A>C (p.Glu1167Asp) n.6037A>C c.1869+1815A>C (n.1869+1815A>C) c.3669A>C (p.Glu1223Asp) c.3681A>C (p.Glu1227Asp) c.3654A>C (p.Glu1218Asp) c.3600A>C (p.Glu1200Asp) c.3000A>C (p.Glu1000Asp) c.3948A>C (p.Glu1316Asp) c.3945A>C (p.Glu1315Asp) c.3864A>C (p.Glu1288Asp) c.3795A>C (p.Glu1265Asp) c.3663A>C (p.Glu1221Asp) c.3531A>C (p.Glu1177Asp) | |
20 | g.32436396A>G | CA510467552 | ASXL1 | c.3684A>G (p.Glu1228=) c.3501A>G (p.Glu1167=) n.6037A>G c.1869+1815A>G (n.1869+1815A>G) c.3669A>G (p.Glu1223=) c.3681A>G (p.Glu1227=) c.3654A>G (p.Glu1218=) c.3600A>G (p.Glu1200=) c.3000A>G (p.Glu1000=) c.3948A>G (p.Glu1316=) c.3945A>G (p.Glu1315=) c.3864A>G (p.Glu1288=) c.3795A>G (p.Glu1265=) c.3663A>G (p.Glu1221=) c.3531A>G (p.Glu1177=) | |
20 | g.32436396A>T | CA408563575 | ASXL1 | c.3684A>T (p.Glu1228Asp) c.3501A>T (p.Glu1167Asp) n.6037A>T c.1869+1815A>T (n.1869+1815A>T) c.3669A>T (p.Glu1223Asp) c.3681A>T (p.Glu1227Asp) c.3654A>T (p.Glu1218Asp) c.3600A>T (p.Glu1200Asp) c.3000A>T (p.Glu1000Asp) c.3948A>T (p.Glu1316Asp) c.3945A>T (p.Glu1315Asp) c.3864A>T (p.Glu1288Asp) c.3795A>T (p.Glu1265Asp) c.3663A>T (p.Glu1221Asp) c.3531A>T (p.Glu1177Asp) | |
20 | g.32436397A= | CA2360293682 | ASXL1 | c.3685A= (p.Met1229=) c.3502A= (p.Met1168=) n.6038A= c.1869+1816A= (n.1869+1816A=) c.3670A= (p.Met1224=) c.3682A= (p.Met1228=) c.3655A= (p.Met1219=) c.3601A= (p.Met1201=) c.3001A= (p.Met1001=) c.3949A= (p.Met1317=) c.3946A= (p.Met1316=) c.3865A= (p.Met1289=) c.3796A= (p.Met1266=) c.3664A= (p.Met1222=) c.3532A= (p.Met1178=) | |
20 | g.32436397A>C | CA408563576 | ASXL1 | c.3685A>C (p.Met1229Leu) c.3502A>C (p.Met1168Leu) n.6038A>C c.1869+1816A>C (n.1869+1816A>C) c.3670A>C (p.Met1224Leu) c.3682A>C (p.Met1228Leu) c.3655A>C (p.Met1219Leu) c.3601A>C (p.Met1201Leu) c.3001A>C (p.Met1001Leu) c.3949A>C (p.Met1317Leu) c.3946A>C (p.Met1316Leu) c.3865A>C (p.Met1289Leu) c.3796A>C (p.Met1266Leu) c.3664A>C (p.Met1222Leu) c.3532A>C (p.Met1178Leu) | |
20 | g.32436397A>G | CA408563577 | ASXL1 | c.3685A>G (p.Met1229Val) c.3502A>G (p.Met1168Val) n.6038A>G c.1869+1816A>G (n.1869+1816A>G) c.3670A>G (p.Met1224Val) c.3682A>G (p.Met1228Val) c.3655A>G (p.Met1219Val) c.3601A>G (p.Met1201Val) c.3001A>G (p.Met1001Val) c.3949A>G (p.Met1317Val) c.3946A>G (p.Met1316Val) c.3865A>G (p.Met1289Val) c.3796A>G (p.Met1266Val) c.3664A>G (p.Met1222Val) c.3532A>G (p.Met1178Val) | dbSNP gnomAD v4 |
20 | g.32436397A>T | CA408563578 | ASXL1 | c.3685A>T (p.Met1229Leu) c.3502A>T (p.Met1168Leu) n.6038A>T c.1869+1816A>T (n.1869+1816A>T) c.3670A>T (p.Met1224Leu) c.3682A>T (p.Met1228Leu) c.3655A>T (p.Met1219Leu) c.3601A>T (p.Met1201Leu) c.3001A>T (p.Met1001Leu) c.3949A>T (p.Met1317Leu) c.3946A>T (p.Met1316Leu) c.3865A>T (p.Met1289Leu) c.3796A>T (p.Met1266Leu) c.3664A>T (p.Met1222Leu) c.3532A>T (p.Met1178Leu) | |
20 | g.32436398T>A | CA408563579 | ASXL1 | c.3686T>A (p.Met1229Lys) c.3503T>A (p.Met1168Lys) n.6039T>A c.1869+1817T>A (n.1869+1817T>A) c.3671T>A (p.Met1224Lys) c.3683T>A (p.Met1228Lys) c.3656T>A (p.Met1219Lys) c.3602T>A (p.Met1201Lys) c.3002T>A (p.Met1001Lys) c.3950T>A (p.Met1317Lys) c.3947T>A (p.Met1316Lys) c.3866T>A (p.Met1289Lys) c.3797T>A (p.Met1266Lys) c.3665T>A (p.Met1222Lys) c.3533T>A (p.Met1178Lys) | |
20 | g.32436398T>C | CA408563580 | ASXL1 | c.3686T>C (p.Met1229Thr) c.3503T>C (p.Met1168Thr) n.6039T>C c.1869+1817T>C (n.1869+1817T>C) c.3671T>C (p.Met1224Thr) c.3683T>C (p.Met1228Thr) c.3656T>C (p.Met1219Thr) c.3602T>C (p.Met1201Thr) c.3002T>C (p.Met1001Thr) c.3950T>C (p.Met1317Thr) c.3947T>C (p.Met1316Thr) c.3866T>C (p.Met1289Thr) c.3797T>C (p.Met1266Thr) c.3665T>C (p.Met1222Thr) c.3533T>C (p.Met1178Thr) | gnomAD v4 |
20 | g.32436398T>G | CA408563581 | ASXL1 | c.3686T>G (p.Met1229Arg) c.3503T>G (p.Met1168Arg) n.6039T>G c.1869+1817T>G (n.1869+1817T>G) c.3671T>G (p.Met1224Arg) c.3683T>G (p.Met1228Arg) c.3656T>G (p.Met1219Arg) c.3602T>G (p.Met1201Arg) c.3002T>G (p.Met1001Arg) c.3950T>G (p.Met1317Arg) c.3947T>G (p.Met1316Arg) c.3866T>G (p.Met1289Arg) c.3797T>G (p.Met1266Arg) c.3665T>G (p.Met1222Arg) c.3533T>G (p.Met1178Arg) |