| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.113064110C>A | CA360626264 | MCC | c.1517G>T (p.Arg506Leu) c.2087G>T (p.Arg696Leu) c.1328G>T (p.Arg443Leu) c.1487G>T (p.Arg496Leu) | gnomAD v4 |
| 5 | g.113064110C= | CA1573632548 | MCC | c.1517G= (p.Arg506=) c.2087G= (p.Arg696=) c.1328G= (p.Arg443=) c.1487G= (p.Arg496=) | |
| 5 | g.113064110C>G | CA360626265 | MCC | c.1517G>C (p.Arg506Pro) c.2087G>C (p.Arg696Pro) c.1328G>C (p.Arg443Pro) c.1487G>C (p.Arg496Pro) | |
| 5 | g.113064110C>T | CA250643 | MCC | c.1517G>A (p.Arg506Gln) c.2087G>A (p.Arg696Gln) c.1328G>A (p.Arg443Gln) c.1487G>A (p.Arg496Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064111G>A | CA124994758 | MCC | c.1516C>T (p.Arg506Trp) c.2086C>T (p.Arg696Trp) c.1327C>T (p.Arg443Trp) c.1486C>T (p.Arg496Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064111G>C | CA360626266 | MCC | c.1516C>G (p.Arg506Gly) c.2086C>G (p.Arg696Gly) c.1327C>G (p.Arg443Gly) c.1486C>G (p.Arg496Gly) | dbSNP gnomAD v2 |
| 5 | g.113064111G= | CA1573632549 | MCC | c.1516C= (p.Arg506=) c.2086C= (p.Arg696=) c.1327C= (p.Arg443=) c.1486C= (p.Arg496=) | |
| 5 | g.113064111G>T | CA445979386 | MCC | c.1516C>A (p.Arg506=) c.2086C>A (p.Arg696=) c.1327C>A (p.Arg443=) c.1486C>A (p.Arg496=) | |
| 5 | g.113064112G>A | CA445979387 | MCC | c.1515C>T (p.Cys505=) c.2085C>T (p.Cys695=) c.1326C>T (p.Cys442=) c.1485C>T (p.Cys495=) | gnomAD v4 |
| 5 | g.113064112G>C | CA360626267 | MCC | c.1515C>G (p.Cys505Trp) c.2085C>G (p.Cys695Trp) c.1326C>G (p.Cys442Trp) c.1485C>G (p.Cys495Trp) | |
| 5 | g.113064112G>T | CA360626268 | MCC | c.1515C>A (p.Cys505Ter) c.2085C>A (p.Cys695Ter) c.1326C>A (p.Cys442Ter) c.1485C>A (p.Cys495Ter) | |
| 5 | g.113064113C>A | CA360626269 | MCC | c.1514G>T (p.Cys505Phe) c.2084G>T (p.Cys695Phe) c.1325G>T (p.Cys442Phe) c.1484G>T (p.Cys495Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.113064113C= | CA1573632550 | MCC | c.1514G= (p.Cys505=) c.2084G= (p.Cys695=) c.1325G= (p.Cys442=) c.1484G= (p.Cys495=) | |
| 5 | g.113064113C>G | CA360626270 | MCC | c.1514G>C (p.Cys505Ser) c.2084G>C (p.Cys695Ser) c.1325G>C (p.Cys442Ser) c.1484G>C (p.Cys495Ser) | |
| 5 | g.113064113C>T | CA360626271 | MCC | c.1514G>A (p.Cys505Tyr) c.2084G>A (p.Cys695Tyr) c.1325G>A (p.Cys442Tyr) c.1484G>A (p.Cys495Tyr) | gnomAD v4 |
| 5 | g.113064114A>C | CA360626272 | MCC | c.1513T>G (p.Cys505Gly) c.2083T>G (p.Cys695Gly) c.1324T>G (p.Cys442Gly) c.1483T>G (p.Cys495Gly) | |
| 5 | g.113064114A>G | CA360626274 | MCC | c.1513T>C (p.Cys505Arg) c.2083T>C (p.Cys695Arg) c.1324T>C (p.Cys442Arg) c.1483T>C (p.Cys495Arg) | |
| 5 | g.113064114A>T | CA360626273 | MCC | c.1513T>A (p.Cys505Ser) c.2083T>A (p.Cys695Ser) c.1324T>A (p.Cys442Ser) c.1483T>A (p.Cys495Ser) | |
| 5 | g.113064115G>A | CA445979388 | MCC | c.1512C>T (p.Asp504=) c.2082C>T (p.Asp694=) c.1323C>T (p.Asp441=) c.1482C>T (p.Asp494=) | gnomAD v4 |
| 5 | g.113064115G>C | CA360626275 | MCC | c.1512C>G (p.Asp504Glu) c.2082C>G (p.Asp694Glu) c.1323C>G (p.Asp441Glu) c.1482C>G (p.Asp494Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064115G= | CA1573632551 | MCC | c.1512C= (p.Asp504=) c.2082C= (p.Asp694=) c.1323C= (p.Asp441=) c.1482C= (p.Asp494=) | |
| 5 | g.113064115G>T | CA360626276 | MCC | c.1512C>A (p.Asp504Glu) c.2082C>A (p.Asp694Glu) c.1323C>A (p.Asp441Glu) c.1482C>A (p.Asp494Glu) | |
| 5 | g.113064116T>A | CA360626277 | MCC | c.1511A>T (p.Asp504Val) c.2081A>T (p.Asp694Val) c.1322A>T (p.Asp441Val) c.1481A>T (p.Asp494Val) | |
| 5 | g.113064116T>C | CA360626278 | MCC | c.1511A>G (p.Asp504Gly) c.2081A>G (p.Asp694Gly) c.1322A>G (p.Asp441Gly) c.1481A>G (p.Asp494Gly) | dbSNP gnomAD v4 |
| 5 | g.113064116T>G | CA360626279 | MCC | c.1511A>C (p.Asp504Ala) c.2081A>C (p.Asp694Ala) c.1322A>C (p.Asp441Ala) c.1481A>C (p.Asp494Ala) | |
| 5 | g.113064116T= | CA1573632552 | MCC | c.1511A= (p.Asp504=) c.2081A= (p.Asp694=) c.1322A= (p.Asp441=) c.1481A= (p.Asp494=) | |
| 5 | g.113064117C>A | CA360626280 | MCC | c.1510G>T (p.Asp504Tyr) c.2080G>T (p.Asp694Tyr) c.1321G>T (p.Asp441Tyr) c.1480G>T (p.Asp494Tyr) | |
| 5 | g.113064117C>G | CA360626281 | MCC | c.1510G>C (p.Asp504His) c.2080G>C (p.Asp694His) c.1321G>C (p.Asp441His) c.1480G>C (p.Asp494His) | |
| 5 | g.113064117C>T | CA360626282 | MCC | c.1510G>A (p.Asp504Asn) c.2080G>A (p.Asp694Asn) c.1321G>A (p.Asp441Asn) c.1480G>A (p.Asp494Asn) | |
| 5 | g.113064118A>C | CA360626283 | MCC | c.1509T>G (p.His503Gln) c.2079T>G (p.His693Gln) c.1320T>G (p.His440Gln) c.1479T>G (p.His493Gln) | |
| 5 | g.113064118A>G | CA445979389 | MCC | c.1509T>C (p.His503=) c.2079T>C (p.His693=) c.1320T>C (p.His440=) c.1479T>C (p.His493=) | |
| 5 | g.113064118A>T | CA360626284 | MCC | c.1509T>A (p.His503Gln) c.2079T>A (p.His693Gln) c.1320T>A (p.His440Gln) c.1479T>A (p.His493Gln) | |
| 5 | g.113064119T>A | CA360626287 | MCC | c.1508A>T (p.His503Leu) c.2078A>T (p.His693Leu) c.1319A>T (p.His440Leu) c.1478A>T (p.His493Leu) | gnomAD v4 |
| 5 | g.113064119T>C | CA360626285 | MCC | c.1508A>G (p.His503Arg) c.2078A>G (p.His693Arg) c.1319A>G (p.His440Arg) c.1478A>G (p.His493Arg) | gnomAD v4 |
| 5 | g.113064119T>G | CA360626286 | MCC | c.1508A>C (p.His503Pro) c.2078A>C (p.His693Pro) c.1319A>C (p.His440Pro) c.1478A>C (p.His493Pro) | gnomAD v4 |
| 5 | g.113064120G>A | CA3370031 | MCC | c.1507C>T (p.His503Tyr) c.2077C>T (p.His693Tyr) c.1318C>T (p.His440Tyr) c.1477C>T (p.His493Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064120G>C | CA360626289 | MCC | c.1507C>G (p.His503Asp) c.2077C>G (p.His693Asp) c.1318C>G (p.His440Asp) c.1477C>G (p.His493Asp) | |
| 5 | g.113064120G= | CA1573632553 | MCC | c.1507C= (p.His503=) c.2077C= (p.His693=) c.1318C= (p.His440=) c.1477C= (p.His493=) | |
| 5 | g.113064120G>T | CA360626288 | MCC | c.1507C>A (p.His503Asn) c.2077C>A (p.His693Asn) c.1318C>A (p.His440Asn) c.1477C>A (p.His493Asn) | |
| 5 | g.113064121A>C | CA445979390 | MCC | c.1506T>G (p.Ala502=) c.2076T>G (p.Ala692=) c.1317T>G (p.Ala439=) c.1476T>G (p.Ala492=) | |
| 5 | g.113064121A>G | CA445979392 | MCC | c.1506T>C (p.Ala502=) c.2076T>C (p.Ala692=) c.1317T>C (p.Ala439=) c.1476T>C (p.Ala492=) | |
| 5 | g.113064121A>T | CA445979393 | MCC | c.1506T>A (p.Ala502=) c.2076T>A (p.Ala692=) c.1317T>A (p.Ala439=) c.1476T>A (p.Ala492=) | |
| 5 | g.113064122G>A | CA3370032 | MCC | c.1505C>T (p.Ala502Val) c.2075C>T (p.Ala692Val) c.1316C>T (p.Ala439Val) c.1475C>T (p.Ala492Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.113064122G>C | CA360626290 | MCC | c.1505C>G (p.Ala502Gly) c.2075C>G (p.Ala692Gly) c.1316C>G (p.Ala439Gly) c.1475C>G (p.Ala492Gly) | dbSNP |
| 5 | g.113064122G= | CA1573632554 | MCC | c.1505C= (p.Ala502=) c.2075C= (p.Ala692=) c.1316C= (p.Ala439=) c.1475C= (p.Ala492=) | |
| 5 | g.113064122G>T | CA360626291 | MCC | c.1505C>A (p.Ala502Asp) c.2075C>A (p.Ala692Asp) c.1316C>A (p.Ala439Asp) c.1475C>A (p.Ala492Asp) | |
| 5 | g.113064123C>A | CA360626292 | MCC | c.1504G>T (p.Ala502Ser) c.2074G>T (p.Ala692Ser) c.1315G>T (p.Ala439Ser) c.1474G>T (p.Ala492Ser) | |
| 5 | g.113064123C>G | CA360626293 | MCC | c.1504G>C (p.Ala502Pro) c.2074G>C (p.Ala692Pro) c.1315G>C (p.Ala439Pro) c.1474G>C (p.Ala492Pro) | |
| 5 | g.113064123C>T | CA360626294 | MCC | c.1504G>A (p.Ala502Thr) c.2074G>A (p.Ala692Thr) c.1315G>A (p.Ala439Thr) c.1474G>A (p.Ala492Thr) | |
| 5 | g.113064124T>A | CA124994762 | MCC | c.1503A>T (p.Arg501=) c.2073A>T (p.Arg691=) c.1314A>T (p.Arg438=) c.1473A>T (p.Arg491=) | dbSNP gnomAD v2 gnomAD v4 |