| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.115046406G>A | CA5207754 | TNC | c.318-4065C>T c.3215-4065C>T (n.3215-4065C>T) c.4036+4C>T (n.4036+4C>T) c.2068+4C>T (n.2068+4C>T) c.724+4C>T (n.724+4C>T) c.4083+4C>T c.5125+4C>T (n.5125+4C>T) c.4579+4C>T (n.4579+4C>T) c.4307-4065C>T (n.4307-4065C>T) n.253-4065C>T n.40-4065C>T c.812+4C>T c.4852+4C>T (n.4852+4C>T) c.4034-4065C>T (n.4034-4065C>T) c.3487+4C>T (n.3487+4C>T) c.5401+4C>T (n.5401+4C>T) c.3488-4065C>T (n.3488-4065C>T) c.5128+4C>T (n.5128+4C>T) c.4582+4C>T (n.4582+4C>T) c.4580-4065C>T (n.4580-4065C>T) c.4309+4C>T (n.4309+4C>T) c.3761-4065C>T (n.3761-4065C>T) c.3760+4C>T (n.3760+4C>T) c.5674+4C>T (n.5674+4C>T) c.5398+4C>T (n.5398+4C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.115046406G= | CA1874118855 | TNC | c.318-4065C= c.3215-4065C= (n.3215-4065C=) c.4036+4C= (n.4036+4C=) c.2068+4C= (n.2068+4C=) c.724+4C= (n.724+4C=) c.4083+4C= c.5125+4C= (n.5125+4C=) c.4579+4C= (n.4579+4C=) c.4307-4065C= (n.4307-4065C=) n.253-4065C= n.40-4065C= c.812+4C= c.4852+4C= (n.4852+4C=) c.4034-4065C= (n.4034-4065C=) c.3487+4C= (n.3487+4C=) c.5401+4C= (n.5401+4C=) c.3488-4065C= (n.3488-4065C=) c.5128+4C= (n.5128+4C=) c.4582+4C= (n.4582+4C=) c.4580-4065C= (n.4580-4065C=) c.4309+4C= (n.4309+4C=) c.3761-4065C= (n.3761-4065C=) c.3760+4C= (n.3760+4C=) c.5674+4C= (n.5674+4C=) c.5398+4C= (n.5398+4C=) | |
| 9 | g.115046408A>C | CA374630473 | TNC | c.318-4067T>G c.3215-4067T>G (n.3215-4067T>G) c.4036+2T>G (n.4036+2T>G) c.2068+2T>G (n.2068+2T>G) c.724+2T>G (n.724+2T>G) c.4083+2T>G c.5125+2T>G (n.5125+2T>G) c.4579+2T>G (n.4579+2T>G) c.4307-4067T>G (n.4307-4067T>G) n.253-4067T>G n.40-4067T>G c.812+2T>G c.4852+2T>G (n.4852+2T>G) c.4034-4067T>G (n.4034-4067T>G) c.3487+2T>G (n.3487+2T>G) c.5401+2T>G (n.5401+2T>G) c.3488-4067T>G (n.3488-4067T>G) c.5128+2T>G (n.5128+2T>G) c.4582+2T>G (n.4582+2T>G) c.4580-4067T>G (n.4580-4067T>G) c.4309+2T>G (n.4309+2T>G) c.3761-4067T>G (n.3761-4067T>G) c.3760+2T>G (n.3760+2T>G) c.5674+2T>G (n.5674+2T>G) c.5398+2T>G (n.5398+2T>G) | |
| 9 | g.115046408A>G | CA374630469 | TNC | c.318-4067T>C c.3215-4067T>C (n.3215-4067T>C) c.4036+2T>C (n.4036+2T>C) c.2068+2T>C (n.2068+2T>C) c.724+2T>C (n.724+2T>C) c.4083+2T>C c.5125+2T>C (n.5125+2T>C) c.4579+2T>C (n.4579+2T>C) c.4307-4067T>C (n.4307-4067T>C) n.253-4067T>C n.40-4067T>C c.812+2T>C c.4852+2T>C (n.4852+2T>C) c.4034-4067T>C (n.4034-4067T>C) c.3487+2T>C (n.3487+2T>C) c.5401+2T>C (n.5401+2T>C) c.3488-4067T>C (n.3488-4067T>C) c.5128+2T>C (n.5128+2T>C) c.4582+2T>C (n.4582+2T>C) c.4580-4067T>C (n.4580-4067T>C) c.4309+2T>C (n.4309+2T>C) c.3761-4067T>C (n.3761-4067T>C) c.3760+2T>C (n.3760+2T>C) c.5674+2T>C (n.5674+2T>C) c.5398+2T>C (n.5398+2T>C) | gnomAD v4 |
| 9 | g.115046408A>T | CA374630471 | TNC | c.318-4067T>A c.3215-4067T>A (n.3215-4067T>A) c.4036+2T>A (n.4036+2T>A) c.2068+2T>A (n.2068+2T>A) c.724+2T>A (n.724+2T>A) c.4083+2T>A c.5125+2T>A (n.5125+2T>A) c.4579+2T>A (n.4579+2T>A) c.4307-4067T>A (n.4307-4067T>A) n.253-4067T>A n.40-4067T>A c.812+2T>A c.4852+2T>A (n.4852+2T>A) c.4034-4067T>A (n.4034-4067T>A) c.3487+2T>A (n.3487+2T>A) c.5401+2T>A (n.5401+2T>A) c.3488-4067T>A (n.3488-4067T>A) c.5128+2T>A (n.5128+2T>A) c.4582+2T>A (n.4582+2T>A) c.4580-4067T>A (n.4580-4067T>A) c.4309+2T>A (n.4309+2T>A) c.3761-4067T>A (n.3761-4067T>A) c.3760+2T>A (n.3760+2T>A) c.5674+2T>A (n.5674+2T>A) c.5398+2T>A (n.5398+2T>A) | |
| 9 | g.115046409C>A | CA374630475 | TNC | c.318-4068G>T c.3215-4068G>T (n.3215-4068G>T) c.4036+1G>T (n.4036+1G>T) c.2068+1G>T (n.2068+1G>T) c.724+1G>T (n.724+1G>T) c.4083+1G>T c.5125+1G>T (n.5125+1G>T) c.4579+1G>T (n.4579+1G>T) c.4307-4068G>T (n.4307-4068G>T) n.253-4068G>T n.40-4068G>T c.812+1G>T c.4852+1G>T (n.4852+1G>T) c.4034-4068G>T (n.4034-4068G>T) c.3487+1G>T (n.3487+1G>T) c.5401+1G>T (n.5401+1G>T) c.3488-4068G>T (n.3488-4068G>T) c.5128+1G>T (n.5128+1G>T) c.4582+1G>T (n.4582+1G>T) c.4580-4068G>T (n.4580-4068G>T) c.4309+1G>T (n.4309+1G>T) c.3761-4068G>T (n.3761-4068G>T) c.3760+1G>T (n.3760+1G>T) c.5674+1G>T (n.5674+1G>T) c.5398+1G>T (n.5398+1G>T) | |
| 9 | g.115046409C= | CA1874118856 | TNC | c.318-4068G= c.3215-4068G= (n.3215-4068G=) c.4036+1G= (n.4036+1G=) c.2068+1G= (n.2068+1G=) c.724+1G= (n.724+1G=) c.4083+1G= c.5125+1G= (n.5125+1G=) c.4579+1G= (n.4579+1G=) c.4307-4068G= (n.4307-4068G=) n.253-4068G= n.40-4068G= c.812+1G= c.4852+1G= (n.4852+1G=) c.4034-4068G= (n.4034-4068G=) c.3487+1G= (n.3487+1G=) c.5401+1G= (n.5401+1G=) c.3488-4068G= (n.3488-4068G=) c.5128+1G= (n.5128+1G=) c.4582+1G= (n.4582+1G=) c.4580-4068G= (n.4580-4068G=) c.4309+1G= (n.4309+1G=) c.3761-4068G= (n.3761-4068G=) c.3760+1G= (n.3760+1G=) c.5674+1G= (n.5674+1G=) c.5398+1G= (n.5398+1G=) | |
| 9 | g.115046409C>G | CA198692477 | TNC | c.318-4068G>C c.3215-4068G>C (n.3215-4068G>C) c.4036+1G>C (n.4036+1G>C) c.2068+1G>C (n.2068+1G>C) c.724+1G>C (n.724+1G>C) c.4083+1G>C c.5125+1G>C (n.5125+1G>C) c.4579+1G>C (n.4579+1G>C) c.4307-4068G>C (n.4307-4068G>C) n.253-4068G>C n.40-4068G>C c.812+1G>C c.4852+1G>C (n.4852+1G>C) c.4034-4068G>C (n.4034-4068G>C) c.3487+1G>C (n.3487+1G>C) c.5401+1G>C (n.5401+1G>C) c.3488-4068G>C (n.3488-4068G>C) c.5128+1G>C (n.5128+1G>C) c.4582+1G>C (n.4582+1G>C) c.4580-4068G>C (n.4580-4068G>C) c.4309+1G>C (n.4309+1G>C) c.3761-4068G>C (n.3761-4068G>C) c.3760+1G>C (n.3760+1G>C) c.5674+1G>C (n.5674+1G>C) c.5398+1G>C (n.5398+1G>C) | dbSNP |
| 9 | g.115046409C>T | CA374630478 | TNC | c.318-4068G>A c.3215-4068G>A (n.3215-4068G>A) c.4036+1G>A (n.4036+1G>A) c.2068+1G>A (n.2068+1G>A) c.724+1G>A (n.724+1G>A) c.4083+1G>A c.5125+1G>A (n.5125+1G>A) c.4579+1G>A (n.4579+1G>A) c.4307-4068G>A (n.4307-4068G>A) n.253-4068G>A n.40-4068G>A c.812+1G>A c.4852+1G>A (n.4852+1G>A) c.4034-4068G>A (n.4034-4068G>A) c.3487+1G>A (n.3487+1G>A) c.5401+1G>A (n.5401+1G>A) c.3488-4068G>A (n.3488-4068G>A) c.5128+1G>A (n.5128+1G>A) c.4582+1G>A (n.4582+1G>A) c.4580-4068G>A (n.4580-4068G>A) c.4309+1G>A (n.4309+1G>A) c.3761-4068G>A (n.3761-4068G>A) c.3760+1G>A (n.3760+1G>A) c.5674+1G>A (n.5674+1G>A) c.5398+1G>A (n.5398+1G>A) | dbSNP |
| 9 | g.115046410C>A | CA374630480 | TNC | c.318-4069G>T c.3215-4069G>T (n.3215-4069G>T) c.4036G>T (p.Ala1346Ser) c.2068G>T (p.Ala690Ser) c.724G>T (p.Ala242Ser) c.4083G>T c.5125G>T (p.Ala1709Ser) c.4579G>T (p.Ala1527Ser) c.4307-4069G>T (n.4307-4069G>T) n.253-4069G>T n.40-4069G>T c.812G>T c.4852G>T (p.Ala1618Ser) c.4034-4069G>T (n.4034-4069G>T) c.3487G>T (p.Ala1163Ser) c.5401G>T (p.Ala1801Ser) c.3488-4069G>T (n.3488-4069G>T) c.5128G>T (p.Ala1710Ser) c.4582G>T (p.Ala1528Ser) c.4580-4069G>T (n.4580-4069G>T) c.4309G>T (p.Ala1437Ser) c.3761-4069G>T (n.3761-4069G>T) c.3760G>T (p.Ala1254Ser) c.5674G>T (p.Ala1892Ser) c.5398G>T (p.Ala1800Ser) | |
| 9 | g.115046410C= | CA1874118857 | TNC | c.318-4069G= c.3215-4069G= (n.3215-4069G=) c.4036G= (p.Ala1346=) c.2068G= (p.Ala690=) c.724G= (p.Ala242=) c.4083G= c.5125G= (p.Ala1709=) c.4579G= (p.Ala1527=) c.4307-4069G= (n.4307-4069G=) n.253-4069G= n.40-4069G= c.812G= c.4852G= (p.Ala1618=) c.4034-4069G= (n.4034-4069G=) c.3487G= (p.Ala1163=) c.5401G= (p.Ala1801=) c.3488-4069G= (n.3488-4069G=) c.5128G= (p.Ala1710=) c.4582G= (p.Ala1528=) c.4580-4069G= (n.4580-4069G=) c.4309G= (p.Ala1437=) c.3761-4069G= (n.3761-4069G=) c.3760G= (p.Ala1254=) c.5674G= (p.Ala1892=) c.5398G= (p.Ala1800=) | |
| 9 | g.115046410C>G | CA374630482 | TNC | c.318-4069G>C c.3215-4069G>C (n.3215-4069G>C) c.4036G>C (p.Ala1346Pro) c.2068G>C (p.Ala690Pro) c.724G>C (p.Ala242Pro) c.4083G>C c.5125G>C (p.Ala1709Pro) c.4579G>C (p.Ala1527Pro) c.4307-4069G>C (n.4307-4069G>C) n.253-4069G>C n.40-4069G>C c.812G>C c.4852G>C (p.Ala1618Pro) c.4034-4069G>C (n.4034-4069G>C) c.3487G>C (p.Ala1163Pro) c.5401G>C (p.Ala1801Pro) c.3488-4069G>C (n.3488-4069G>C) c.5128G>C (p.Ala1710Pro) c.4582G>C (p.Ala1528Pro) c.4580-4069G>C (n.4580-4069G>C) c.4309G>C (p.Ala1437Pro) c.3761-4069G>C (n.3761-4069G>C) c.3760G>C (p.Ala1254Pro) c.5674G>C (p.Ala1892Pro) c.5398G>C (p.Ala1800Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.115046410C>T | CA374630484 | TNC | c.318-4069G>A c.3215-4069G>A (n.3215-4069G>A) c.4036G>A (p.Ala1346Thr) c.2068G>A (p.Ala690Thr) c.724G>A (p.Ala242Thr) c.4083G>A c.5125G>A (p.Ala1709Thr) c.4579G>A (p.Ala1527Thr) c.4307-4069G>A (n.4307-4069G>A) n.253-4069G>A n.40-4069G>A c.812G>A c.4852G>A (p.Ala1618Thr) c.4034-4069G>A (n.4034-4069G>A) c.3487G>A (p.Ala1163Thr) c.5401G>A (p.Ala1801Thr) c.3488-4069G>A (n.3488-4069G>A) c.5128G>A (p.Ala1710Thr) c.4582G>A (p.Ala1528Thr) c.4580-4069G>A (n.4580-4069G>A) c.4309G>A (p.Ala1437Thr) c.3761-4069G>A (n.3761-4069G>A) c.3760G>A (p.Ala1254Thr) c.5674G>A (p.Ala1892Thr) c.5398G>A (p.Ala1800Thr) | |
| 9 | g.115046411T>A | CA466912298 | TNC | c.318-4070A>T c.3215-4070A>T (n.3215-4070A>T) c.4035A>T (p.Thr1345=) c.2067A>T (p.Thr689=) c.723A>T (p.Thr241=) c.4082A>T c.5124A>T (p.Thr1708=) c.4578A>T (p.Thr1526=) c.4307-4070A>T (n.4307-4070A>T) n.253-4070A>T n.40-4070A>T c.811A>T c.4851A>T (p.Thr1617=) c.4034-4070A>T (n.4034-4070A>T) c.3486A>T (p.Thr1162=) c.5400A>T (p.Thr1800=) c.3488-4070A>T (n.3488-4070A>T) c.5127A>T (p.Thr1709=) c.4581A>T (p.Thr1527=) c.4580-4070A>T (n.4580-4070A>T) c.4308A>T (p.Thr1436=) c.3761-4070A>T (n.3761-4070A>T) c.3759A>T (p.Thr1253=) c.5673A>T (p.Thr1891=) c.5397A>T (p.Thr1799=) | |
| 9 | g.115046411T>C | CA466912297 | TNC | c.318-4070A>G c.3215-4070A>G (n.3215-4070A>G) c.4035A>G (p.Thr1345=) c.2067A>G (p.Thr689=) c.723A>G (p.Thr241=) c.4082A>G c.5124A>G (p.Thr1708=) c.4578A>G (p.Thr1526=) c.4307-4070A>G (n.4307-4070A>G) n.253-4070A>G n.40-4070A>G c.811A>G c.4851A>G (p.Thr1617=) c.4034-4070A>G (n.4034-4070A>G) c.3486A>G (p.Thr1162=) c.5400A>G (p.Thr1800=) c.3488-4070A>G (n.3488-4070A>G) c.5127A>G (p.Thr1709=) c.4581A>G (p.Thr1527=) c.4580-4070A>G (n.4580-4070A>G) c.4308A>G (p.Thr1436=) c.3761-4070A>G (n.3761-4070A>G) c.3759A>G (p.Thr1253=) c.5673A>G (p.Thr1891=) c.5397A>G (p.Thr1799=) | |
| 9 | g.115046411T>G | CA466912296 | TNC | c.318-4070A>C c.3215-4070A>C (n.3215-4070A>C) c.4035A>C (p.Thr1345=) c.2067A>C (p.Thr689=) c.723A>C (p.Thr241=) c.4082A>C c.5124A>C (p.Thr1708=) c.4578A>C (p.Thr1526=) c.4307-4070A>C (n.4307-4070A>C) n.253-4070A>C n.40-4070A>C c.811A>C c.4851A>C (p.Thr1617=) c.4034-4070A>C (n.4034-4070A>C) c.3486A>C (p.Thr1162=) c.5400A>C (p.Thr1800=) c.3488-4070A>C (n.3488-4070A>C) c.5127A>C (p.Thr1709=) c.4581A>C (p.Thr1527=) c.4580-4070A>C (n.4580-4070A>C) c.4308A>C (p.Thr1436=) c.3761-4070A>C (n.3761-4070A>C) c.3759A>C (p.Thr1253=) c.5673A>C (p.Thr1891=) c.5397A>C (p.Thr1799=) | |
| 9 | g.115046412G>A | CA374630486 | TNC | c.318-4071C>T c.3215-4071C>T (n.3215-4071C>T) c.4034C>T (p.Thr1345Ile) c.2066C>T (p.Thr689Ile) c.722C>T (p.Thr241Ile) c.4081C>T c.5123C>T (p.Thr1708Ile) c.4577C>T (p.Thr1526Ile) c.4307-4071C>T (n.4307-4071C>T) n.253-4071C>T n.40-4071C>T c.810C>T c.4850C>T (p.Thr1617Ile) c.4034-4071C>T (n.4034-4071C>T) c.3485C>T (p.Thr1162Ile) c.5399C>T (p.Thr1800Ile) c.3488-4071C>T (n.3488-4071C>T) c.5126C>T (p.Thr1709Ile) c.4580C>T (p.Thr1527Ile) c.4580-4071C>T (n.4580-4071C>T) c.4307C>T (p.Thr1436Ile) c.3761-4071C>T (n.3761-4071C>T) c.3758C>T (p.Thr1253Ile) c.5672C>T (p.Thr1891Ile) c.5396C>T (p.Thr1799Ile) | gnomAD v4 |
| 9 | g.115046412G>C | CA374630490 | TNC | c.318-4071C>G c.3215-4071C>G (n.3215-4071C>G) c.4034C>G (p.Thr1345Arg) c.2066C>G (p.Thr689Arg) c.722C>G (p.Thr241Arg) c.4081C>G c.5123C>G (p.Thr1708Arg) c.4577C>G (p.Thr1526Arg) c.4307-4071C>G (n.4307-4071C>G) n.253-4071C>G n.40-4071C>G c.810C>G c.4850C>G (p.Thr1617Arg) c.4034-4071C>G (n.4034-4071C>G) c.3485C>G (p.Thr1162Arg) c.5399C>G (p.Thr1800Arg) c.3488-4071C>G (n.3488-4071C>G) c.5126C>G (p.Thr1709Arg) c.4580C>G (p.Thr1527Arg) c.4580-4071C>G (n.4580-4071C>G) c.4307C>G (p.Thr1436Arg) c.3761-4071C>G (n.3761-4071C>G) c.3758C>G (p.Thr1253Arg) c.5672C>G (p.Thr1891Arg) c.5396C>G (p.Thr1799Arg) | gnomAD v4 |
| 9 | g.115046412G>T | CA374630488 | TNC | c.318-4071C>A c.3215-4071C>A (n.3215-4071C>A) c.4034C>A (p.Thr1345Lys) c.2066C>A (p.Thr689Lys) c.722C>A (p.Thr241Lys) c.4081C>A c.5123C>A (p.Thr1708Lys) c.4577C>A (p.Thr1526Lys) c.4307-4071C>A (n.4307-4071C>A) n.253-4071C>A n.40-4071C>A c.810C>A c.4850C>A (p.Thr1617Lys) c.4034-4071C>A (n.4034-4071C>A) c.3485C>A (p.Thr1162Lys) c.5399C>A (p.Thr1800Lys) c.3488-4071C>A (n.3488-4071C>A) c.5126C>A (p.Thr1709Lys) c.4580C>A (p.Thr1527Lys) c.4580-4071C>A (n.4580-4071C>A) c.4307C>A (p.Thr1436Lys) c.3761-4071C>A (n.3761-4071C>A) c.3758C>A (p.Thr1253Lys) c.5672C>A (p.Thr1891Lys) c.5396C>A (p.Thr1799Lys) | |
| 9 | g.115046413T>A | CA374630492 | TNC | c.318-4072A>T c.3215-4072A>T (n.3215-4072A>T) c.4033A>T (p.Thr1345Ser) c.2065A>T (p.Thr689Ser) c.721A>T (p.Thr241Ser) c.4080A>T c.5122A>T (p.Thr1708Ser) c.4576A>T (p.Thr1526Ser) c.4307-4072A>T (n.4307-4072A>T) n.253-4072A>T n.40-4072A>T c.809A>T c.4849A>T (p.Thr1617Ser) c.4034-4072A>T (n.4034-4072A>T) c.3484A>T (p.Thr1162Ser) c.5398A>T (p.Thr1800Ser) c.3488-4072A>T (n.3488-4072A>T) c.5125A>T (p.Thr1709Ser) c.4579A>T (p.Thr1527Ser) c.4580-4072A>T (n.4580-4072A>T) c.4306A>T (p.Thr1436Ser) c.3761-4072A>T (n.3761-4072A>T) c.3757A>T (p.Thr1253Ser) c.5671A>T (p.Thr1891Ser) c.5395A>T (p.Thr1799Ser) | |
| 9 | g.115046413T>C | CA374630494 | TNC | c.318-4072A>G c.3215-4072A>G (n.3215-4072A>G) c.4033A>G (p.Thr1345Ala) c.2065A>G (p.Thr689Ala) c.721A>G (p.Thr241Ala) c.4080A>G c.5122A>G (p.Thr1708Ala) c.4576A>G (p.Thr1526Ala) c.4307-4072A>G (n.4307-4072A>G) n.253-4072A>G n.40-4072A>G c.809A>G c.4849A>G (p.Thr1617Ala) c.4034-4072A>G (n.4034-4072A>G) c.3484A>G (p.Thr1162Ala) c.5398A>G (p.Thr1800Ala) c.3488-4072A>G (n.3488-4072A>G) c.5125A>G (p.Thr1709Ala) c.4579A>G (p.Thr1527Ala) c.4580-4072A>G (n.4580-4072A>G) c.4306A>G (p.Thr1436Ala) c.3761-4072A>G (n.3761-4072A>G) c.3757A>G (p.Thr1253Ala) c.5671A>G (p.Thr1891Ala) c.5395A>G (p.Thr1799Ala) | gnomAD v4 |
| 9 | g.115046413T>G | CA374630495 | TNC | c.318-4072A>C c.3215-4072A>C (n.3215-4072A>C) c.4033A>C (p.Thr1345Pro) c.2065A>C (p.Thr689Pro) c.721A>C (p.Thr241Pro) c.4080A>C c.5122A>C (p.Thr1708Pro) c.4576A>C (p.Thr1526Pro) c.4307-4072A>C (n.4307-4072A>C) n.253-4072A>C n.40-4072A>C c.809A>C c.4849A>C (p.Thr1617Pro) c.4034-4072A>C (n.4034-4072A>C) c.3484A>C (p.Thr1162Pro) c.5398A>C (p.Thr1800Pro) c.3488-4072A>C (n.3488-4072A>C) c.5125A>C (p.Thr1709Pro) c.4579A>C (p.Thr1527Pro) c.4580-4072A>C (n.4580-4072A>C) c.4306A>C (p.Thr1436Pro) c.3761-4072A>C (n.3761-4072A>C) c.3757A>C (p.Thr1253Pro) c.5671A>C (p.Thr1891Pro) c.5395A>C (p.Thr1799Pro) | |
| 9 | g.115046414T>A | CA466912300 | TNC | c.318-4073A>T c.3215-4073A>T (n.3215-4073A>T) c.4032A>T (p.Thr1344=) c.2064A>T (p.Thr688=) c.720A>T (p.Thr240=) c.4079A>T c.5121A>T (p.Thr1707=) c.4575A>T (p.Thr1525=) c.4307-4073A>T (n.4307-4073A>T) n.253-4073A>T n.40-4073A>T c.808A>T c.4848A>T (p.Thr1616=) c.4034-4073A>T (n.4034-4073A>T) c.3483A>T (p.Thr1161=) c.5397A>T (p.Thr1799=) c.3488-4073A>T (n.3488-4073A>T) c.5124A>T (p.Thr1708=) c.4578A>T (p.Thr1526=) c.4580-4073A>T (n.4580-4073A>T) c.4305A>T (p.Thr1435=) c.3761-4073A>T (n.3761-4073A>T) c.3756A>T (p.Thr1252=) c.5670A>T (p.Thr1890=) c.5394A>T (p.Thr1798=) | |
| 9 | g.115046414T>C | CA466912303 | TNC | c.318-4073A>G c.3215-4073A>G (n.3215-4073A>G) c.4032A>G (p.Thr1344=) c.2064A>G (p.Thr688=) c.720A>G (p.Thr240=) c.4079A>G c.5121A>G (p.Thr1707=) c.4575A>G (p.Thr1525=) c.4307-4073A>G (n.4307-4073A>G) n.253-4073A>G n.40-4073A>G c.808A>G c.4848A>G (p.Thr1616=) c.4034-4073A>G (n.4034-4073A>G) c.3483A>G (p.Thr1161=) c.5397A>G (p.Thr1799=) c.3488-4073A>G (n.3488-4073A>G) c.5124A>G (p.Thr1708=) c.4578A>G (p.Thr1526=) c.4580-4073A>G (n.4580-4073A>G) c.4305A>G (p.Thr1435=) c.3761-4073A>G (n.3761-4073A>G) c.3756A>G (p.Thr1252=) c.5670A>G (p.Thr1890=) c.5394A>G (p.Thr1798=) | |
| 9 | g.115046414T>G | CA466912301 | TNC | c.318-4073A>C c.3215-4073A>C (n.3215-4073A>C) c.4032A>C (p.Thr1344=) c.2064A>C (p.Thr688=) c.720A>C (p.Thr240=) c.4079A>C c.5121A>C (p.Thr1707=) c.4575A>C (p.Thr1525=) c.4307-4073A>C (n.4307-4073A>C) n.253-4073A>C n.40-4073A>C c.808A>C c.4848A>C (p.Thr1616=) c.4034-4073A>C (n.4034-4073A>C) c.3483A>C (p.Thr1161=) c.5397A>C (p.Thr1799=) c.3488-4073A>C (n.3488-4073A>C) c.5124A>C (p.Thr1708=) c.4578A>C (p.Thr1526=) c.4580-4073A>C (n.4580-4073A>C) c.4305A>C (p.Thr1435=) c.3761-4073A>C (n.3761-4073A>C) c.3756A>C (p.Thr1252=) c.5670A>C (p.Thr1890=) c.5394A>C (p.Thr1798=) | dbSNP |
| 9 | g.115046414T= | CA1874118858 | TNC | c.318-4073A= c.3215-4073A= (n.3215-4073A=) c.4032A= (p.Thr1344=) c.2064A= (p.Thr688=) c.720A= (p.Thr240=) c.4079A= c.5121A= (p.Thr1707=) c.4575A= (p.Thr1525=) c.4307-4073A= (n.4307-4073A=) n.253-4073A= n.40-4073A= c.808A= c.4848A= (p.Thr1616=) c.4034-4073A= (n.4034-4073A=) c.3483A= (p.Thr1161=) c.5397A= (p.Thr1799=) c.3488-4073A= (n.3488-4073A=) c.5124A= (p.Thr1708=) c.4578A= (p.Thr1526=) c.4580-4073A= (n.4580-4073A=) c.4305A= (p.Thr1435=) c.3761-4073A= (n.3761-4073A=) c.3756A= (p.Thr1252=) c.5670A= (p.Thr1890=) c.5394A= (p.Thr1798=) | |
| 9 | g.115046415G>A | CA198692479 | TNC | c.318-4074C>T c.3215-4074C>T (n.3215-4074C>T) c.4031C>T (p.Thr1344Ile) c.2063C>T (p.Thr688Ile) c.719C>T (p.Thr240Ile) c.4078C>T c.5120C>T (p.Thr1707Ile) c.4574C>T (p.Thr1525Ile) c.4307-4074C>T (n.4307-4074C>T) n.253-4074C>T n.40-4074C>T c.807C>T c.4847C>T (p.Thr1616Ile) c.4034-4074C>T (n.4034-4074C>T) c.3482C>T (p.Thr1161Ile) c.5396C>T (p.Thr1799Ile) c.3488-4074C>T (n.3488-4074C>T) c.5123C>T (p.Thr1708Ile) c.4577C>T (p.Thr1526Ile) c.4580-4074C>T (n.4580-4074C>T) c.4304C>T (p.Thr1435Ile) c.3761-4074C>T (n.3761-4074C>T) c.3755C>T (p.Thr1252Ile) c.5669C>T (p.Thr1890Ile) c.5393C>T (p.Thr1798Ile) | dbSNP |
| 9 | g.115046415G>C | CA374630499 | TNC | c.318-4074C>G c.3215-4074C>G (n.3215-4074C>G) c.4031C>G (p.Thr1344Arg) c.2063C>G (p.Thr688Arg) c.719C>G (p.Thr240Arg) c.4078C>G c.5120C>G (p.Thr1707Arg) c.4574C>G (p.Thr1525Arg) c.4307-4074C>G (n.4307-4074C>G) n.253-4074C>G n.40-4074C>G c.807C>G c.4847C>G (p.Thr1616Arg) c.4034-4074C>G (n.4034-4074C>G) c.3482C>G (p.Thr1161Arg) c.5396C>G (p.Thr1799Arg) c.3488-4074C>G (n.3488-4074C>G) c.5123C>G (p.Thr1708Arg) c.4577C>G (p.Thr1526Arg) c.4580-4074C>G (n.4580-4074C>G) c.4304C>G (p.Thr1435Arg) c.3761-4074C>G (n.3761-4074C>G) c.3755C>G (p.Thr1252Arg) c.5669C>G (p.Thr1890Arg) c.5393C>G (p.Thr1798Arg) | |
| 9 | g.115046415G= | CA1874118859 | TNC | c.318-4074C= c.3215-4074C= (n.3215-4074C=) c.4031C= (p.Thr1344=) c.2063C= (p.Thr688=) c.719C= (p.Thr240=) c.4078C= c.5120C= (p.Thr1707=) c.4574C= (p.Thr1525=) c.4307-4074C= (n.4307-4074C=) n.253-4074C= n.40-4074C= c.807C= c.4847C= (p.Thr1616=) c.4034-4074C= (n.4034-4074C=) c.3482C= (p.Thr1161=) c.5396C= (p.Thr1799=) c.3488-4074C= (n.3488-4074C=) c.5123C= (p.Thr1708=) c.4577C= (p.Thr1526=) c.4580-4074C= (n.4580-4074C=) c.4304C= (p.Thr1435=) c.3761-4074C= (n.3761-4074C=) c.3755C= (p.Thr1252=) c.5669C= (p.Thr1890=) c.5393C= (p.Thr1798=) | |
| 9 | g.115046415G>T | CA374630500 | TNC | c.318-4074C>A c.3215-4074C>A (n.3215-4074C>A) c.4031C>A (p.Thr1344Lys) c.2063C>A (p.Thr688Lys) c.719C>A (p.Thr240Lys) c.4078C>A c.5120C>A (p.Thr1707Lys) c.4574C>A (p.Thr1525Lys) c.4307-4074C>A (n.4307-4074C>A) n.253-4074C>A n.40-4074C>A c.807C>A c.4847C>A (p.Thr1616Lys) c.4034-4074C>A (n.4034-4074C>A) c.3482C>A (p.Thr1161Lys) c.5396C>A (p.Thr1799Lys) c.3488-4074C>A (n.3488-4074C>A) c.5123C>A (p.Thr1708Lys) c.4577C>A (p.Thr1526Lys) c.4580-4074C>A (n.4580-4074C>A) c.4304C>A (p.Thr1435Lys) c.3761-4074C>A (n.3761-4074C>A) c.3755C>A (p.Thr1252Lys) c.5669C>A (p.Thr1890Lys) c.5393C>A (p.Thr1798Lys) | gnomAD v4 |
| 9 | g.115046416T>A | CA374630503 | TNC | c.318-4075A>T c.3215-4075A>T (n.3215-4075A>T) c.4030A>T (p.Thr1344Ser) c.2062A>T (p.Thr688Ser) c.718A>T (p.Thr240Ser) c.4077A>T c.5119A>T (p.Thr1707Ser) c.4573A>T (p.Thr1525Ser) c.4307-4075A>T (n.4307-4075A>T) n.253-4075A>T n.40-4075A>T c.806A>T c.4846A>T (p.Thr1616Ser) c.4034-4075A>T (n.4034-4075A>T) c.3481A>T (p.Thr1161Ser) c.5395A>T (p.Thr1799Ser) c.3488-4075A>T (n.3488-4075A>T) c.5122A>T (p.Thr1708Ser) c.4576A>T (p.Thr1526Ser) c.4580-4075A>T (n.4580-4075A>T) c.4303A>T (p.Thr1435Ser) c.3761-4075A>T (n.3761-4075A>T) c.3754A>T (p.Thr1252Ser) c.5668A>T (p.Thr1890Ser) c.5392A>T (p.Thr1798Ser) | |
| 9 | g.115046416T>C | CA374630505 | TNC | c.318-4075A>G c.3215-4075A>G (n.3215-4075A>G) c.4030A>G (p.Thr1344Ala) c.2062A>G (p.Thr688Ala) c.718A>G (p.Thr240Ala) c.4077A>G c.5119A>G (p.Thr1707Ala) c.4573A>G (p.Thr1525Ala) c.4307-4075A>G (n.4307-4075A>G) n.253-4075A>G n.40-4075A>G c.806A>G c.4846A>G (p.Thr1616Ala) c.4034-4075A>G (n.4034-4075A>G) c.3481A>G (p.Thr1161Ala) c.5395A>G (p.Thr1799Ala) c.3488-4075A>G (n.3488-4075A>G) c.5122A>G (p.Thr1708Ala) c.4576A>G (p.Thr1526Ala) c.4580-4075A>G (n.4580-4075A>G) c.4303A>G (p.Thr1435Ala) c.3761-4075A>G (n.3761-4075A>G) c.3754A>G (p.Thr1252Ala) c.5668A>G (p.Thr1890Ala) c.5392A>G (p.Thr1798Ala) | |
| 9 | g.115046416T>G | CA374630506 | TNC | c.318-4075A>C c.3215-4075A>C (n.3215-4075A>C) c.4030A>C (p.Thr1344Pro) c.2062A>C (p.Thr688Pro) c.718A>C (p.Thr240Pro) c.4077A>C c.5119A>C (p.Thr1707Pro) c.4573A>C (p.Thr1525Pro) c.4307-4075A>C (n.4307-4075A>C) n.253-4075A>C n.40-4075A>C c.806A>C c.4846A>C (p.Thr1616Pro) c.4034-4075A>C (n.4034-4075A>C) c.3481A>C (p.Thr1161Pro) c.5395A>C (p.Thr1799Pro) c.3488-4075A>C (n.3488-4075A>C) c.5122A>C (p.Thr1708Pro) c.4576A>C (p.Thr1526Pro) c.4580-4075A>C (n.4580-4075A>C) c.4303A>C (p.Thr1435Pro) c.3761-4075A>C (n.3761-4075A>C) c.3754A>C (p.Thr1252Pro) c.5668A>C (p.Thr1890Pro) c.5392A>C (p.Thr1798Pro) | |
| 9 | g.115046417T>A | CA466912304 | TNC | c.318-4076A>T c.3215-4076A>T (n.3215-4076A>T) c.4029A>T (p.Ala1343=) c.2061A>T (p.Ala687=) c.717A>T (p.Ala239=) c.4076A>T c.5118A>T (p.Ala1706=) c.4572A>T (p.Ala1524=) c.4307-4076A>T (n.4307-4076A>T) n.253-4076A>T n.40-4076A>T c.805A>T c.4845A>T (p.Ala1615=) c.4034-4076A>T (n.4034-4076A>T) c.3480A>T (p.Ala1160=) c.5394A>T (p.Ala1798=) c.3488-4076A>T (n.3488-4076A>T) c.5121A>T (p.Ala1707=) c.4575A>T (p.Ala1525=) c.4580-4076A>T (n.4580-4076A>T) c.4302A>T (p.Ala1434=) c.3761-4076A>T (n.3761-4076A>T) c.3753A>T (p.Ala1251=) c.5667A>T (p.Ala1889=) c.5391A>T (p.Ala1797=) | gnomAD v4 |
| 9 | g.115046417T>C | CA466912305 | TNC | c.318-4076A>G c.3215-4076A>G (n.3215-4076A>G) c.4029A>G (p.Ala1343=) c.2061A>G (p.Ala687=) c.717A>G (p.Ala239=) c.4076A>G c.5118A>G (p.Ala1706=) c.4572A>G (p.Ala1524=) c.4307-4076A>G (n.4307-4076A>G) n.253-4076A>G n.40-4076A>G c.805A>G c.4845A>G (p.Ala1615=) c.4034-4076A>G (n.4034-4076A>G) c.3480A>G (p.Ala1160=) c.5394A>G (p.Ala1798=) c.3488-4076A>G (n.3488-4076A>G) c.5121A>G (p.Ala1707=) c.4575A>G (p.Ala1525=) c.4580-4076A>G (n.4580-4076A>G) c.4302A>G (p.Ala1434=) c.3761-4076A>G (n.3761-4076A>G) c.3753A>G (p.Ala1251=) c.5667A>G (p.Ala1889=) c.5391A>G (p.Ala1797=) | |
| 9 | g.115046417T>G | CA466912306 | TNC | c.318-4076A>C c.3215-4076A>C (n.3215-4076A>C) c.4029A>C (p.Ala1343=) c.2061A>C (p.Ala687=) c.717A>C (p.Ala239=) c.4076A>C c.5118A>C (p.Ala1706=) c.4572A>C (p.Ala1524=) c.4307-4076A>C (n.4307-4076A>C) n.253-4076A>C n.40-4076A>C c.805A>C c.4845A>C (p.Ala1615=) c.4034-4076A>C (n.4034-4076A>C) c.3480A>C (p.Ala1160=) c.5394A>C (p.Ala1798=) c.3488-4076A>C (n.3488-4076A>C) c.5121A>C (p.Ala1707=) c.4575A>C (p.Ala1525=) c.4580-4076A>C (n.4580-4076A>C) c.4302A>C (p.Ala1434=) c.3761-4076A>C (n.3761-4076A>C) c.3753A>C (p.Ala1251=) c.5667A>C (p.Ala1889=) c.5391A>C (p.Ala1797=) | |
| 9 | g.115046418G>A | CA374630507 | TNC | c.318-4077C>T c.3215-4077C>T (n.3215-4077C>T) c.4028C>T (p.Ala1343Val) c.2060C>T (p.Ala687Val) c.716C>T (p.Ala239Val) c.4075C>T c.5117C>T (p.Ala1706Val) c.4571C>T (p.Ala1524Val) c.4307-4077C>T (n.4307-4077C>T) n.253-4077C>T n.40-4077C>T c.804C>T c.4844C>T (p.Ala1615Val) c.4034-4077C>T (n.4034-4077C>T) c.3479C>T (p.Ala1160Val) c.5393C>T (p.Ala1798Val) c.3488-4077C>T (n.3488-4077C>T) c.5120C>T (p.Ala1707Val) c.4574C>T (p.Ala1525Val) c.4580-4077C>T (n.4580-4077C>T) c.4301C>T (p.Ala1434Val) c.3761-4077C>T (n.3761-4077C>T) c.3752C>T (p.Ala1251Val) c.5666C>T (p.Ala1889Val) c.5390C>T (p.Ala1797Val) | |
| 9 | g.115046418G>C | CA374630509 | TNC | c.318-4077C>G c.3215-4077C>G (n.3215-4077C>G) c.4028C>G (p.Ala1343Gly) c.2060C>G (p.Ala687Gly) c.716C>G (p.Ala239Gly) c.4075C>G c.5117C>G (p.Ala1706Gly) c.4571C>G (p.Ala1524Gly) c.4307-4077C>G (n.4307-4077C>G) n.253-4077C>G n.40-4077C>G c.804C>G c.4844C>G (p.Ala1615Gly) c.4034-4077C>G (n.4034-4077C>G) c.3479C>G (p.Ala1160Gly) c.5393C>G (p.Ala1798Gly) c.3488-4077C>G (n.3488-4077C>G) c.5120C>G (p.Ala1707Gly) c.4574C>G (p.Ala1525Gly) c.4580-4077C>G (n.4580-4077C>G) c.4301C>G (p.Ala1434Gly) c.3761-4077C>G (n.3761-4077C>G) c.3752C>G (p.Ala1251Gly) c.5666C>G (p.Ala1889Gly) c.5390C>G (p.Ala1797Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.115046418G= | CA1874118860 | TNC | c.318-4077C= c.3215-4077C= (n.3215-4077C=) c.4028C= (p.Ala1343=) c.2060C= (p.Ala687=) c.716C= (p.Ala239=) c.4075C= c.5117C= (p.Ala1706=) c.4571C= (p.Ala1524=) c.4307-4077C= (n.4307-4077C=) n.253-4077C= n.40-4077C= c.804C= c.4844C= (p.Ala1615=) c.4034-4077C= (n.4034-4077C=) c.3479C= (p.Ala1160=) c.5393C= (p.Ala1798=) c.3488-4077C= (n.3488-4077C=) c.5120C= (p.Ala1707=) c.4574C= (p.Ala1525=) c.4580-4077C= (n.4580-4077C=) c.4301C= (p.Ala1434=) c.3761-4077C= (n.3761-4077C=) c.3752C= (p.Ala1251=) c.5666C= (p.Ala1889=) c.5390C= (p.Ala1797=) | |
| 9 | g.115046418G>T | CA374630511 | TNC | c.318-4077C>A c.3215-4077C>A (n.3215-4077C>A) c.4028C>A (p.Ala1343Glu) c.2060C>A (p.Ala687Glu) c.716C>A (p.Ala239Glu) c.4075C>A c.5117C>A (p.Ala1706Glu) c.4571C>A (p.Ala1524Glu) c.4307-4077C>A (n.4307-4077C>A) n.253-4077C>A n.40-4077C>A c.804C>A c.4844C>A (p.Ala1615Glu) c.4034-4077C>A (n.4034-4077C>A) c.3479C>A (p.Ala1160Glu) c.5393C>A (p.Ala1798Glu) c.3488-4077C>A (n.3488-4077C>A) c.5120C>A (p.Ala1707Glu) c.4574C>A (p.Ala1525Glu) c.4580-4077C>A (n.4580-4077C>A) c.4301C>A (p.Ala1434Glu) c.3761-4077C>A (n.3761-4077C>A) c.3752C>A (p.Ala1251Glu) c.5666C>A (p.Ala1889Glu) c.5390C>A (p.Ala1797Glu) | |
| 9 | g.115046419C>A | CA374630513 | TNC | c.318-4078G>T c.3215-4078G>T (n.3215-4078G>T) c.4027G>T (p.Ala1343Ser) c.2059G>T (p.Ala687Ser) c.715G>T (p.Ala239Ser) c.4074G>T c.5116G>T (p.Ala1706Ser) c.4570G>T (p.Ala1524Ser) c.4307-4078G>T (n.4307-4078G>T) n.253-4078G>T n.40-4078G>T c.803G>T c.4843G>T (p.Ala1615Ser) c.4034-4078G>T (n.4034-4078G>T) c.3478G>T (p.Ala1160Ser) c.5392G>T (p.Ala1798Ser) c.3488-4078G>T (n.3488-4078G>T) c.5119G>T (p.Ala1707Ser) c.4573G>T (p.Ala1525Ser) c.4580-4078G>T (n.4580-4078G>T) c.4300G>T (p.Ala1434Ser) c.3761-4078G>T (n.3761-4078G>T) c.3751G>T (p.Ala1251Ser) c.5665G>T (p.Ala1889Ser) c.5389G>T (p.Ala1797Ser) | |
| 9 | g.115046419C>G | CA374630517 | TNC | c.318-4078G>C c.3215-4078G>C (n.3215-4078G>C) c.4027G>C (p.Ala1343Pro) c.2059G>C (p.Ala687Pro) c.715G>C (p.Ala239Pro) c.4074G>C c.5116G>C (p.Ala1706Pro) c.4570G>C (p.Ala1524Pro) c.4307-4078G>C (n.4307-4078G>C) n.253-4078G>C n.40-4078G>C c.803G>C c.4843G>C (p.Ala1615Pro) c.4034-4078G>C (n.4034-4078G>C) c.3478G>C (p.Ala1160Pro) c.5392G>C (p.Ala1798Pro) c.3488-4078G>C (n.3488-4078G>C) c.5119G>C (p.Ala1707Pro) c.4573G>C (p.Ala1525Pro) c.4580-4078G>C (n.4580-4078G>C) c.4300G>C (p.Ala1434Pro) c.3761-4078G>C (n.3761-4078G>C) c.3751G>C (p.Ala1251Pro) c.5665G>C (p.Ala1889Pro) c.5389G>C (p.Ala1797Pro) | |
| 9 | g.115046419C>T | CA374630515 | TNC | c.318-4078G>A c.3215-4078G>A (n.3215-4078G>A) c.4027G>A (p.Ala1343Thr) c.2059G>A (p.Ala687Thr) c.715G>A (p.Ala239Thr) c.4074G>A c.5116G>A (p.Ala1706Thr) c.4570G>A (p.Ala1524Thr) c.4307-4078G>A (n.4307-4078G>A) n.253-4078G>A n.40-4078G>A c.803G>A c.4843G>A (p.Ala1615Thr) c.4034-4078G>A (n.4034-4078G>A) c.3478G>A (p.Ala1160Thr) c.5392G>A (p.Ala1798Thr) c.3488-4078G>A (n.3488-4078G>A) c.5119G>A (p.Ala1707Thr) c.4573G>A (p.Ala1525Thr) c.4580-4078G>A (n.4580-4078G>A) c.4300G>A (p.Ala1434Thr) c.3761-4078G>A (n.3761-4078G>A) c.3751G>A (p.Ala1251Thr) c.5665G>A (p.Ala1889Thr) c.5389G>A (p.Ala1797Thr) | gnomAD v4 |
| 9 | g.115046420T>A | CA466912309 | TNC | c.318-4079A>T c.3215-4079A>T (n.3215-4079A>T) c.4026A>T (p.Ile1342=) c.2058A>T (p.Ile686=) c.714A>T (p.Ile238=) c.4073A>T c.5115A>T (p.Ile1705=) c.4569A>T (p.Ile1523=) c.4307-4079A>T (n.4307-4079A>T) n.253-4079A>T n.40-4079A>T c.802A>T c.4842A>T (p.Ile1614=) c.4034-4079A>T (n.4034-4079A>T) c.3477A>T (p.Ile1159=) c.5391A>T (p.Ile1797=) c.3488-4079A>T (n.3488-4079A>T) c.5118A>T (p.Ile1706=) c.4572A>T (p.Ile1524=) c.4580-4079A>T (n.4580-4079A>T) c.4299A>T (p.Ile1433=) c.3761-4079A>T (n.3761-4079A>T) c.3750A>T (p.Ile1250=) c.5664A>T (p.Ile1888=) c.5388A>T (p.Ile1796=) | |
| 9 | g.115046420T>C | CA374630518 | TNC | c.318-4079A>G c.3215-4079A>G (n.3215-4079A>G) c.4026A>G (p.Ile1342Met) c.2058A>G (p.Ile686Met) c.714A>G (p.Ile238Met) c.4073A>G c.5115A>G (p.Ile1705Met) c.4569A>G (p.Ile1523Met) c.4307-4079A>G (n.4307-4079A>G) n.253-4079A>G n.40-4079A>G c.802A>G c.4842A>G (p.Ile1614Met) c.4034-4079A>G (n.4034-4079A>G) c.3477A>G (p.Ile1159Met) c.5391A>G (p.Ile1797Met) c.3488-4079A>G (n.3488-4079A>G) c.5118A>G (p.Ile1706Met) c.4572A>G (p.Ile1524Met) c.4580-4079A>G (n.4580-4079A>G) c.4299A>G (p.Ile1433Met) c.3761-4079A>G (n.3761-4079A>G) c.3750A>G (p.Ile1250Met) c.5664A>G (p.Ile1888Met) c.5388A>G (p.Ile1796Met) | |
| 9 | g.115046420T>G | CA466912311 | TNC | c.318-4079A>C c.3215-4079A>C (n.3215-4079A>C) c.4026A>C (p.Ile1342=) c.2058A>C (p.Ile686=) c.714A>C (p.Ile238=) c.4073A>C c.5115A>C (p.Ile1705=) c.4569A>C (p.Ile1523=) c.4307-4079A>C (n.4307-4079A>C) n.253-4079A>C n.40-4079A>C c.802A>C c.4842A>C (p.Ile1614=) c.4034-4079A>C (n.4034-4079A>C) c.3477A>C (p.Ile1159=) c.5391A>C (p.Ile1797=) c.3488-4079A>C (n.3488-4079A>C) c.5118A>C (p.Ile1706=) c.4572A>C (p.Ile1524=) c.4580-4079A>C (n.4580-4079A>C) c.4299A>C (p.Ile1433=) c.3761-4079A>C (n.3761-4079A>C) c.3750A>C (p.Ile1250=) c.5664A>C (p.Ile1888=) c.5388A>C (p.Ile1796=) | |
| 9 | g.115046421A= | CA1874118861 | TNC | c.318-4080T= c.3215-4080T= (n.3215-4080T=) c.4025T= (p.Ile1342=) c.2057T= (p.Ile686=) c.713T= (p.Ile238=) c.4072T= c.5114T= (p.Ile1705=) c.4568T= (p.Ile1523=) c.4307-4080T= (n.4307-4080T=) n.253-4080T= n.40-4080T= c.801T= c.4841T= (p.Ile1614=) c.4034-4080T= (n.4034-4080T=) c.3476T= (p.Ile1159=) c.5390T= (p.Ile1797=) c.3488-4080T= (n.3488-4080T=) c.5117T= (p.Ile1706=) c.4571T= (p.Ile1524=) c.4580-4080T= (n.4580-4080T=) c.4298T= (p.Ile1433=) c.3761-4080T= (n.3761-4080T=) c.3749T= (p.Ile1250=) c.5663T= (p.Ile1888=) c.5387T= (p.Ile1796=) | |
| 9 | g.115046421A>C | CA374630519 | TNC | c.318-4080T>G c.3215-4080T>G (n.3215-4080T>G) c.4025T>G (p.Ile1342Arg) c.2057T>G (p.Ile686Arg) c.713T>G (p.Ile238Arg) c.4072T>G c.5114T>G (p.Ile1705Arg) c.4568T>G (p.Ile1523Arg) c.4307-4080T>G (n.4307-4080T>G) n.253-4080T>G n.40-4080T>G c.801T>G c.4841T>G (p.Ile1614Arg) c.4034-4080T>G (n.4034-4080T>G) c.3476T>G (p.Ile1159Arg) c.5390T>G (p.Ile1797Arg) c.3488-4080T>G (n.3488-4080T>G) c.5117T>G (p.Ile1706Arg) c.4571T>G (p.Ile1524Arg) c.4580-4080T>G (n.4580-4080T>G) c.4298T>G (p.Ile1433Arg) c.3761-4080T>G (n.3761-4080T>G) c.3749T>G (p.Ile1250Arg) c.5663T>G (p.Ile1888Arg) c.5387T>G (p.Ile1796Arg) | |
| 9 | g.115046421A>G | CA198692483 | TNC | c.318-4080T>C c.3215-4080T>C (n.3215-4080T>C) c.4025T>C (p.Ile1342Thr) c.2057T>C (p.Ile686Thr) c.713T>C (p.Ile238Thr) c.4072T>C c.5114T>C (p.Ile1705Thr) c.4568T>C (p.Ile1523Thr) c.4307-4080T>C (n.4307-4080T>C) n.253-4080T>C n.40-4080T>C c.801T>C c.4841T>C (p.Ile1614Thr) c.4034-4080T>C (n.4034-4080T>C) c.3476T>C (p.Ile1159Thr) c.5390T>C (p.Ile1797Thr) c.3488-4080T>C (n.3488-4080T>C) c.5117T>C (p.Ile1706Thr) c.4571T>C (p.Ile1524Thr) c.4580-4080T>C (n.4580-4080T>C) c.4298T>C (p.Ile1433Thr) c.3761-4080T>C (n.3761-4080T>C) c.3749T>C (p.Ile1250Thr) c.5663T>C (p.Ile1888Thr) c.5387T>C (p.Ile1796Thr) | dbSNP |
| 9 | g.115046421A>T | CA374630521 | TNC | c.318-4080T>A c.3215-4080T>A (n.3215-4080T>A) c.4025T>A (p.Ile1342Lys) c.2057T>A (p.Ile686Lys) c.713T>A (p.Ile238Lys) c.4072T>A c.5114T>A (p.Ile1705Lys) c.4568T>A (p.Ile1523Lys) c.4307-4080T>A (n.4307-4080T>A) n.253-4080T>A n.40-4080T>A c.801T>A c.4841T>A (p.Ile1614Lys) c.4034-4080T>A (n.4034-4080T>A) c.3476T>A (p.Ile1159Lys) c.5390T>A (p.Ile1797Lys) c.3488-4080T>A (n.3488-4080T>A) c.5117T>A (p.Ile1706Lys) c.4571T>A (p.Ile1524Lys) c.4580-4080T>A (n.4580-4080T>A) c.4298T>A (p.Ile1433Lys) c.3761-4080T>A (n.3761-4080T>A) c.3749T>A (p.Ile1250Lys) c.5663T>A (p.Ile1888Lys) c.5387T>A (p.Ile1796Lys) |