| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.95061361C= | CA2112099014 | ABCC4 | c.*991+1343G= (p.=) c.*3412+1343G= (p.=) c.3366+1343G= (p.=) c.3225+1343G= (p.=) c.3237+1343G= (p.=) c.3276+1343G= (p.=) c.2817+1343G= (p.=) c.1851+1343G= (p.=) | |
| 13 | g.95061361C>T | CA254173155 | ABCC4 | c.*991+1343G>A (p.=) c.*3412+1343G>A (p.=) c.3366+1343G>A (p.=) c.3225+1343G>A (p.=) c.3237+1343G>A (p.=) c.3276+1343G>A (p.=) c.2817+1343G>A (p.=) c.1851+1343G>A (p.=) | dbSNP gnomAD |
| 13 | g.95061361_95061362delinsCA | CA2112099015 | ABCC4 | c.*991+1342_*991+1343delinsTG (p.=) c.*3412+1342_*3412+1343delinsTG (p.=) c.3366+1342_3366+1343delinsTG (p.=) c.3225+1342_3225+1343delinsTG (p.=) c.3237+1342_3237+1343delinsTG (p.=) c.3276+1342_3276+1343delinsTG (p.=) c.2817+1342_2817+1343delinsTG (p.=) c.1851+1342_1851+1343delinsTG (p.=) | |
| 13 | g.95061364del | CA611421791 | ABCC4 | c.*991+1342del (p.=) c.*3412+1342del (p.=) c.3366+1342del (p.=) c.3225+1342del (p.=) c.3237+1342del (p.=) c.3276+1342del (p.=) c.2817+1342del (p.=) c.1851+1342del (p.=) | dbSNP gnomAD |
| 13 | g.95061365T>C | CA254173163 | ABCC4 | c.*991+1339A>G (p.=) c.*3412+1339A>G (p.=) c.3366+1339A>G (p.=) c.3225+1339A>G (p.=) c.3237+1339A>G (p.=) c.3276+1339A>G (p.=) c.2817+1339A>G (p.=) c.1851+1339A>G (p.=) | dbSNP |
| 13 | g.95061365T= | CA2112099016 | ABCC4 | c.*991+1339A= (p.=) c.*3412+1339A= (p.=) c.3366+1339A= (p.=) c.3225+1339A= (p.=) c.3237+1339A= (p.=) c.3276+1339A= (p.=) c.2817+1339A= (p.=) c.1851+1339A= (p.=) | |
| 13 | g.95061371A= | CA2112099017 | ABCC4 | c.*991+1333T= (p.=) c.*3412+1333T= (p.=) c.3366+1333T= (p.=) c.3225+1333T= (p.=) c.3237+1333T= (p.=) c.3276+1333T= (p.=) c.2817+1333T= (p.=) c.1851+1333T= (p.=) | |
| 13 | g.95061371A>C | CA254173172 | ABCC4 | c.*991+1333T>G (p.=) c.*3412+1333T>G (p.=) c.3366+1333T>G (p.=) c.3225+1333T>G (p.=) c.3237+1333T>G (p.=) c.3276+1333T>G (p.=) c.2817+1333T>G (p.=) c.1851+1333T>G (p.=) | dbSNP |
| 13 | g.95061371A>G | CA702615248 | ABCC4 | c.*991+1333T>C (p.=) c.*3412+1333T>C (p.=) c.3366+1333T>C (p.=) c.3225+1333T>C (p.=) c.3237+1333T>C (p.=) c.3276+1333T>C (p.=) c.2817+1333T>C (p.=) c.1851+1333T>C (p.=) | |
| 13 | g.95061374C>A | CA254173185 | ABCC4 | c.*991+1330G>T (p.=) c.*3412+1330G>T (p.=) c.3366+1330G>T (p.=) c.3225+1330G>T (p.=) c.3237+1330G>T (p.=) c.3276+1330G>T (p.=) c.2817+1330G>T (p.=) c.1851+1330G>T (p.=) | dbSNP gnomAD |
| 13 | g.95061374C= | CA2112099018 | ABCC4 | c.*991+1330G= (p.=) c.*3412+1330G= (p.=) c.3366+1330G= (p.=) c.3225+1330G= (p.=) c.3237+1330G= (p.=) c.3276+1330G= (p.=) c.2817+1330G= (p.=) c.1851+1330G= (p.=) | |
| 13 | g.95061374C>T | CA959091178 | ABCC4 | c.*991+1330G>A (p.=) c.*3412+1330G>A (p.=) c.3366+1330G>A (p.=) c.3225+1330G>A (p.=) c.3237+1330G>A (p.=) c.3276+1330G>A (p.=) c.2817+1330G>A (p.=) c.1851+1330G>A (p.=) | |
| 13 | g.95061375G>A | CA2112099020 | ABCC4 | c.*991+1329C>T (p.=) c.*3412+1329C>T (p.=) c.3366+1329C>T (p.=) c.3225+1329C>T (p.=) c.3237+1329C>T (p.=) c.3276+1329C>T (p.=) c.2817+1329C>T (p.=) c.1851+1329C>T (p.=) | |
| 13 | g.95061375G= | CA2112099019 | ABCC4 | c.*991+1329C= (p.=) c.*3412+1329C= (p.=) c.3366+1329C= (p.=) c.3225+1329C= (p.=) c.3237+1329C= (p.=) c.3276+1329C= (p.=) c.2817+1329C= (p.=) c.1851+1329C= (p.=) | |
| 13 | g.95061376T>C | CA13820038 | ABCC4 | c.*991+1328A>G (p.=) c.*3412+1328A>G (p.=) c.3366+1328A>G (p.=) c.3225+1328A>G (p.=) c.3237+1328A>G (p.=) c.3276+1328A>G (p.=) c.2817+1328A>G (p.=) c.1851+1328A>G (p.=) | dbSNP gnomAD |
| 13 | g.95061376T= | CA2112099021 | ABCC4 | c.*991+1328A= (p.=) c.*3412+1328A= (p.=) c.3366+1328A= (p.=) c.3225+1328A= (p.=) c.3237+1328A= (p.=) c.3276+1328A= (p.=) c.2817+1328A= (p.=) c.1851+1328A= (p.=) | |
| 13 | g.95061379T>C | CA2112099023 | ABCC4 | c.*991+1325A>G (p.=) c.*3412+1325A>G (p.=) c.3366+1325A>G (p.=) c.3225+1325A>G (p.=) c.3237+1325A>G (p.=) c.3276+1325A>G (p.=) c.2817+1325A>G (p.=) c.1851+1325A>G (p.=) | |
| 13 | g.95061379T= | CA2112099022 | ABCC4 | c.*991+1325A= (p.=) c.*3412+1325A= (p.=) c.3366+1325A= (p.=) c.3225+1325A= (p.=) c.3237+1325A= (p.=) c.3276+1325A= (p.=) c.2817+1325A= (p.=) c.1851+1325A= (p.=) | |
| 13 | g.95061380_95061381delinsTC | CA2112099024 | ABCC4 | c.*991+1323_*991+1324delinsGA (p.=) c.*3412+1323_*3412+1324delinsGA (p.=) c.3366+1323_3366+1324delinsGA (p.=) c.3225+1323_3225+1324delinsGA (p.=) c.3237+1323_3237+1324delinsGA (p.=) c.3276+1323_3276+1324delinsGA (p.=) c.2817+1323_2817+1324delinsGA (p.=) c.1851+1323_1851+1324delinsGA (p.=) | |
| 13 | g.95061381C>A | CA254173209 | ABCC4 | c.*991+1323G>T (p.=) c.*3412+1323G>T (p.=) c.3366+1323G>T (p.=) c.3225+1323G>T (p.=) c.3237+1323G>T (p.=) c.3276+1323G>T (p.=) c.2817+1323G>T (p.=) c.1851+1323G>T (p.=) | dbSNP |
| 13 | g.95061381C= | CA2112099025 | ABCC4 | c.*991+1323G= (p.=) c.*3412+1323G= (p.=) c.3366+1323G= (p.=) c.3225+1323G= (p.=) c.3237+1323G= (p.=) c.3276+1323G= (p.=) c.2817+1323G= (p.=) c.1851+1323G= (p.=) | |
| 13 | g.95061381C>T | CA2112099026 | ABCC4 | c.*991+1323G>A (p.=) c.*3412+1323G>A (p.=) c.3366+1323G>A (p.=) c.3225+1323G>A (p.=) c.3237+1323G>A (p.=) c.3276+1323G>A (p.=) c.2817+1323G>A (p.=) c.1851+1323G>A (p.=) | |
| 13 | g.95061382del | CA254173207 | ABCC4 | c.*991+1323del (p.=) c.*3412+1323del (p.=) c.3366+1323del (p.=) c.3225+1323del (p.=) c.3237+1323del (p.=) c.3276+1323del (p.=) c.2817+1323del (p.=) c.1851+1323del (p.=) | dbSNP gnomAD |
| 13 | g.95061384A= | CA2112099027 | ABCC4 | c.*991+1320T= (p.=) c.*3412+1320T= (p.=) c.3366+1320T= (p.=) c.3225+1320T= (p.=) c.3237+1320T= (p.=) c.3276+1320T= (p.=) c.2817+1320T= (p.=) c.1851+1320T= (p.=) | |
| 13 | g.95061384A>C | CA254173240 | ABCC4 | c.*991+1320T>G (p.=) c.*3412+1320T>G (p.=) c.3366+1320T>G (p.=) c.3225+1320T>G (p.=) c.3237+1320T>G (p.=) c.3276+1320T>G (p.=) c.2817+1320T>G (p.=) c.1851+1320T>G (p.=) | dbSNP |
| 13 | g.95061384A>G | CA702615255 | ABCC4 | c.*991+1320T>C (p.=) c.*3412+1320T>C (p.=) c.3366+1320T>C (p.=) c.3225+1320T>C (p.=) c.3237+1320T>C (p.=) c.3276+1320T>C (p.=) c.2817+1320T>C (p.=) c.1851+1320T>C (p.=) | |
| 13 | g.95061385T>C | CA254173244 | ABCC4 | c.*991+1319A>G (p.=) c.*3412+1319A>G (p.=) c.3366+1319A>G (p.=) c.3225+1319A>G (p.=) c.3237+1319A>G (p.=) c.3276+1319A>G (p.=) c.2817+1319A>G (p.=) c.1851+1319A>G (p.=) | dbSNP gnomAD |
| 13 | g.95061385T= | CA2112099028 | ABCC4 | c.*991+1319A= (p.=) c.*3412+1319A= (p.=) c.3366+1319A= (p.=) c.3225+1319A= (p.=) c.3237+1319A= (p.=) c.3276+1319A= (p.=) c.2817+1319A= (p.=) c.1851+1319A= (p.=) | |
| 13 | g.95061388T>C | CA2112099030 | ABCC4 | c.*991+1316A>G (p.=) c.*3412+1316A>G (p.=) c.3366+1316A>G (p.=) c.3225+1316A>G (p.=) c.3237+1316A>G (p.=) c.3276+1316A>G (p.=) c.2817+1316A>G (p.=) c.1851+1316A>G (p.=) | |
| 13 | g.95061388T= | CA2112099029 | ABCC4 | c.*991+1316A= (p.=) c.*3412+1316A= (p.=) c.3366+1316A= (p.=) c.3225+1316A= (p.=) c.3237+1316A= (p.=) c.3276+1316A= (p.=) c.2817+1316A= (p.=) c.1851+1316A= (p.=) | |
| 13 | g.95061393G>A | CA2112099032 | ABCC4 | c.*991+1311C>T (p.=) c.*3412+1311C>T (p.=) c.3366+1311C>T (p.=) c.3225+1311C>T (p.=) c.3237+1311C>T (p.=) c.3276+1311C>T (p.=) c.2817+1311C>T (p.=) c.1851+1311C>T (p.=) | |
| 13 | g.95061393G>C | CA702615260 | ABCC4 | c.*991+1311C>G (p.=) c.*3412+1311C>G (p.=) c.3366+1311C>G (p.=) c.3225+1311C>G (p.=) c.3237+1311C>G (p.=) c.3276+1311C>G (p.=) c.2817+1311C>G (p.=) c.1851+1311C>G (p.=) | |
| 13 | g.95061393G= | CA2112099031 | ABCC4 | c.*991+1311C= (p.=) c.*3412+1311C= (p.=) c.3366+1311C= (p.=) c.3225+1311C= (p.=) c.3237+1311C= (p.=) c.3276+1311C= (p.=) c.2817+1311C= (p.=) c.1851+1311C= (p.=) | |
| 13 | g.95061396G= | CA2112099033 | ABCC4 | c.*991+1308C= (p.=) c.*3412+1308C= (p.=) c.3366+1308C= (p.=) c.3225+1308C= (p.=) c.3237+1308C= (p.=) c.3276+1308C= (p.=) c.2817+1308C= (p.=) c.1851+1308C= (p.=) | |
| 13 | g.95061396G>T | CA959091185 | ABCC4 | c.*991+1308C>A (p.=) c.*3412+1308C>A (p.=) c.3366+1308C>A (p.=) c.3225+1308C>A (p.=) c.3237+1308C>A (p.=) c.3276+1308C>A (p.=) c.2817+1308C>A (p.=) c.1851+1308C>A (p.=) | |
| 13 | g.95061398C= | CA2112099034 | ABCC4 | c.*991+1306G= (p.=) c.*3412+1306G= (p.=) c.3366+1306G= (p.=) c.3225+1306G= (p.=) c.3237+1306G= (p.=) c.3276+1306G= (p.=) c.2817+1306G= (p.=) c.1851+1306G= (p.=) | |
| 13 | g.95061398C>T | CA702615261 | ABCC4 | c.*991+1306G>A (p.=) c.*3412+1306G>A (p.=) c.3366+1306G>A (p.=) c.3225+1306G>A (p.=) c.3237+1306G>A (p.=) c.3276+1306G>A (p.=) c.2817+1306G>A (p.=) c.1851+1306G>A (p.=) | |
| 13 | g.95061399A= | CA2112099035 | ABCC4 | c.*991+1305T= (p.=) c.*3412+1305T= (p.=) c.3366+1305T= (p.=) c.3225+1305T= (p.=) c.3237+1305T= (p.=) c.3276+1305T= (p.=) c.2817+1305T= (p.=) c.1851+1305T= (p.=) | |
| 13 | g.95061399A>G | CA2112099036 | ABCC4 | c.*991+1305T>C (p.=) c.*3412+1305T>C (p.=) c.3366+1305T>C (p.=) c.3225+1305T>C (p.=) c.3237+1305T>C (p.=) c.3276+1305T>C (p.=) c.2817+1305T>C (p.=) c.1851+1305T>C (p.=) | |
| 13 | g.95061400G>A | CA2520268562 | ABCC4 | c.*991+1304C>T (p.=) c.*3412+1304C>T (p.=) c.3366+1304C>T (p.=) c.3225+1304C>T (p.=) c.3237+1304C>T (p.=) c.3276+1304C>T (p.=) c.2817+1304C>T (p.=) c.1851+1304C>T (p.=) | |
| 13 | g.95061400G= | CA2112099037 | ABCC4 | c.*991+1304C= (p.=) c.*3412+1304C= (p.=) c.3366+1304C= (p.=) c.3225+1304C= (p.=) c.3237+1304C= (p.=) c.3276+1304C= (p.=) c.2817+1304C= (p.=) c.1851+1304C= (p.=) | |
| 13 | g.95061400G>T | CA254173251 | ABCC4 | c.*991+1304C>A (p.=) c.*3412+1304C>A (p.=) c.3366+1304C>A (p.=) c.3225+1304C>A (p.=) c.3237+1304C>A (p.=) c.3276+1304C>A (p.=) c.2817+1304C>A (p.=) c.1851+1304C>A (p.=) | dbSNP |
| 13 | g.95061402G>C | CA611421792 | ABCC4 | c.*991+1302C>G (p.=) c.*3412+1302C>G (p.=) c.3366+1302C>G (p.=) c.3225+1302C>G (p.=) c.3237+1302C>G (p.=) c.3276+1302C>G (p.=) c.2817+1302C>G (p.=) c.1851+1302C>G (p.=) | gnomAD |
| 13 | g.95061402G= | CA2112099038 | ABCC4 | c.*991+1302C= (p.=) c.*3412+1302C= (p.=) c.3366+1302C= (p.=) c.3225+1302C= (p.=) c.3237+1302C= (p.=) c.3276+1302C= (p.=) c.2817+1302C= (p.=) c.1851+1302C= (p.=) | |
| 13 | g.95061404T>C | CA959091192 | ABCC4 | c.*991+1300A>G (p.=) c.*3412+1300A>G (p.=) c.3366+1300A>G (p.=) c.3225+1300A>G (p.=) c.3237+1300A>G (p.=) c.3276+1300A>G (p.=) c.2817+1300A>G (p.=) c.1851+1300A>G (p.=) | |
| 13 | g.95061404T= | CA2112099039 | ABCC4 | c.*991+1300A= (p.=) c.*3412+1300A= (p.=) c.3366+1300A= (p.=) c.3225+1300A= (p.=) c.3237+1300A= (p.=) c.3276+1300A= (p.=) c.2817+1300A= (p.=) c.1851+1300A= (p.=) | |
| 13 | g.95061405A= | CA2112099040 | ABCC4 | c.*991+1299T= (p.=) c.*3412+1299T= (p.=) c.3366+1299T= (p.=) c.3225+1299T= (p.=) c.3237+1299T= (p.=) c.3276+1299T= (p.=) c.2817+1299T= (p.=) c.1851+1299T= (p.=) | |
| 13 | g.95061405A>G | CA959091195 | ABCC4 | c.*991+1299T>C (p.=) c.*3412+1299T>C (p.=) c.3366+1299T>C (p.=) c.3225+1299T>C (p.=) c.3237+1299T>C (p.=) c.3276+1299T>C (p.=) c.2817+1299T>C (p.=) c.1851+1299T>C (p.=) | |
| 13 | g.95061406G>C | CA2112099042 | ABCC4 | c.*991+1298C>G (p.=) c.*3412+1298C>G (p.=) c.3366+1298C>G (p.=) c.3225+1298C>G (p.=) c.3237+1298C>G (p.=) c.3276+1298C>G (p.=) c.2817+1298C>G (p.=) c.1851+1298C>G (p.=) | |
| 13 | g.95061406G= | CA2112099041 | ABCC4 | c.*991+1298C= (p.=) c.*3412+1298C= (p.=) c.3366+1298C= (p.=) c.3225+1298C= (p.=) c.3237+1298C= (p.=) c.3276+1298C= (p.=) c.2817+1298C= (p.=) c.1851+1298C= (p.=) |