Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.115046405del | CA2785673972 | TNC | c.318-4064del c.3215-4064del (n.3215-4064del) c.4036+5del (n.4036+5del) c.2068+5del (n.2068+5del) c.724+5del (n.724+5del) c.4083+5del c.5125+5del (n.5125+5del) c.4579+5del (n.4579+5del) c.4307-4064del (n.4307-4064del) n.253-4064del n.40-4064del c.812+5del c.4852+5del (n.4852+5del) c.4034-4064del (n.4034-4064del) c.3487+5del (n.3487+5del) c.5401+5del (n.5401+5del) c.3488-4064del (n.3488-4064del) c.5128+5del (n.5128+5del) c.4582+5del (n.4582+5del) c.4580-4064del (n.4580-4064del) c.4309+5del (n.4309+5del) c.3761-4064del (n.3761-4064del) c.3760+5del (n.3760+5del) c.5674+5del (n.5674+5del) c.5398+5del (n.5398+5del) | |
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) | |
9 | g.115046422T>A | CA374630523 | TNC | c.318-4081A>T c.3215-4081A>T (n.3215-4081A>T) c.4024A>T (p.Ile1342Leu) c.2056A>T (p.Ile686Leu) c.712A>T (p.Ile238Leu) c.4071A>T c.5113A>T (p.Ile1705Leu) c.4567A>T (p.Ile1523Leu) c.4307-4081A>T (n.4307-4081A>T) n.253-4081A>T n.40-4081A>T c.800A>T c.4840A>T (p.Ile1614Leu) c.4034-4081A>T (n.4034-4081A>T) c.3475A>T (p.Ile1159Leu) c.5389A>T (p.Ile1797Leu) c.3488-4081A>T (n.3488-4081A>T) c.5116A>T (p.Ile1706Leu) c.4570A>T (p.Ile1524Leu) c.4580-4081A>T (n.4580-4081A>T) c.4297A>T (p.Ile1433Leu) c.3761-4081A>T (n.3761-4081A>T) c.3748A>T (p.Ile1250Leu) c.5662A>T (p.Ile1888Leu) c.5386A>T (p.Ile1796Leu) | |
9 | g.115046422T>C | CA374630524 | TNC | c.318-4081A>G c.3215-4081A>G (n.3215-4081A>G) c.4024A>G (p.Ile1342Val) c.2056A>G (p.Ile686Val) c.712A>G (p.Ile238Val) c.4071A>G c.5113A>G (p.Ile1705Val) c.4567A>G (p.Ile1523Val) c.4307-4081A>G (n.4307-4081A>G) n.253-4081A>G n.40-4081A>G c.800A>G c.4840A>G (p.Ile1614Val) c.4034-4081A>G (n.4034-4081A>G) c.3475A>G (p.Ile1159Val) c.5389A>G (p.Ile1797Val) c.3488-4081A>G (n.3488-4081A>G) c.5116A>G (p.Ile1706Val) c.4570A>G (p.Ile1524Val) c.4580-4081A>G (n.4580-4081A>G) c.4297A>G (p.Ile1433Val) c.3761-4081A>G (n.3761-4081A>G) c.3748A>G (p.Ile1250Val) c.5662A>G (p.Ile1888Val) c.5386A>G (p.Ile1796Val) | COSMIC |
9 | g.115046422T>G | CA374630526 | TNC | c.318-4081A>C c.3215-4081A>C (n.3215-4081A>C) c.4024A>C (p.Ile1342Leu) c.2056A>C (p.Ile686Leu) c.712A>C (p.Ile238Leu) c.4071A>C c.5113A>C (p.Ile1705Leu) c.4567A>C (p.Ile1523Leu) c.4307-4081A>C (n.4307-4081A>C) n.253-4081A>C n.40-4081A>C c.800A>C c.4840A>C (p.Ile1614Leu) c.4034-4081A>C (n.4034-4081A>C) c.3475A>C (p.Ile1159Leu) c.5389A>C (p.Ile1797Leu) c.3488-4081A>C (n.3488-4081A>C) c.5116A>C (p.Ile1706Leu) c.4570A>C (p.Ile1524Leu) c.4580-4081A>C (n.4580-4081A>C) c.4297A>C (p.Ile1433Leu) c.3761-4081A>C (n.3761-4081A>C) c.3748A>C (p.Ile1250Leu) c.5662A>C (p.Ile1888Leu) c.5386A>C (p.Ile1796Leu) | |
9 | g.115046423A>C | CA466912312 | TNC | c.318-4082T>G c.3215-4082T>G (n.3215-4082T>G) c.4023T>G (p.Ala1341=) c.2055T>G (p.Ala685=) c.711T>G (p.Ala237=) c.4070T>G c.5112T>G (p.Ala1704=) c.4566T>G (p.Ala1522=) c.4307-4082T>G (n.4307-4082T>G) n.253-4082T>G n.40-4082T>G c.799T>G c.4839T>G (p.Ala1613=) c.4034-4082T>G (n.4034-4082T>G) c.3474T>G (p.Ala1158=) c.5388T>G (p.Ala1796=) c.3488-4082T>G (n.3488-4082T>G) c.5115T>G (p.Ala1705=) c.4569T>G (p.Ala1523=) c.4580-4082T>G (n.4580-4082T>G) c.4296T>G (p.Ala1432=) c.3761-4082T>G (n.3761-4082T>G) c.3747T>G (p.Ala1249=) c.5661T>G (p.Ala1887=) c.5385T>G (p.Ala1795=) | |
9 | g.115046423A>G | CA466912314 | TNC | c.318-4082T>C c.3215-4082T>C (n.3215-4082T>C) c.4023T>C (p.Ala1341=) c.2055T>C (p.Ala685=) c.711T>C (p.Ala237=) c.4070T>C c.5112T>C (p.Ala1704=) c.4566T>C (p.Ala1522=) c.4307-4082T>C (n.4307-4082T>C) n.253-4082T>C n.40-4082T>C c.799T>C c.4839T>C (p.Ala1613=) c.4034-4082T>C (n.4034-4082T>C) c.3474T>C (p.Ala1158=) c.5388T>C (p.Ala1796=) c.3488-4082T>C (n.3488-4082T>C) c.5115T>C (p.Ala1705=) c.4569T>C (p.Ala1523=) c.4580-4082T>C (n.4580-4082T>C) c.4296T>C (p.Ala1432=) c.3761-4082T>C (n.3761-4082T>C) c.3747T>C (p.Ala1249=) c.5661T>C (p.Ala1887=) c.5385T>C (p.Ala1795=) | gnomAD v4 |
9 | g.115046423A>T | CA466912315 | TNC | c.318-4082T>A c.3215-4082T>A (n.3215-4082T>A) c.4023T>A (p.Ala1341=) c.2055T>A (p.Ala685=) c.711T>A (p.Ala237=) c.4070T>A c.5112T>A (p.Ala1704=) c.4566T>A (p.Ala1522=) c.4307-4082T>A (n.4307-4082T>A) n.253-4082T>A n.40-4082T>A c.799T>A c.4839T>A (p.Ala1613=) c.4034-4082T>A (n.4034-4082T>A) c.3474T>A (p.Ala1158=) c.5388T>A (p.Ala1796=) c.3488-4082T>A (n.3488-4082T>A) c.5115T>A (p.Ala1705=) c.4569T>A (p.Ala1523=) c.4580-4082T>A (n.4580-4082T>A) c.4296T>A (p.Ala1432=) c.3761-4082T>A (n.3761-4082T>A) c.3747T>A (p.Ala1249=) c.5661T>A (p.Ala1887=) c.5385T>A (p.Ala1795=) | |
9 | g.115046424G>A | CA374630529 | TNC | c.318-4083C>T c.3215-4083C>T (n.3215-4083C>T) c.4022C>T (p.Ala1341Val) c.2054C>T (p.Ala685Val) c.710C>T (p.Ala237Val) c.4069C>T c.5111C>T (p.Ala1704Val) c.4565C>T (p.Ala1522Val) c.4307-4083C>T (n.4307-4083C>T) n.253-4083C>T n.40-4083C>T c.798C>T c.4838C>T (p.Ala1613Val) c.4034-4083C>T (n.4034-4083C>T) c.3473C>T (p.Ala1158Val) c.5387C>T (p.Ala1796Val) c.3488-4083C>T (n.3488-4083C>T) c.5114C>T (p.Ala1705Val) c.4568C>T (p.Ala1523Val) c.4580-4083C>T (n.4580-4083C>T) c.4295C>T (p.Ala1432Val) c.3761-4083C>T (n.3761-4083C>T) c.3746C>T (p.Ala1249Val) c.5660C>T (p.Ala1887Val) c.5384C>T (p.Ala1795Val) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.115046424G>C | CA374630531 | TNC | c.318-4083C>G c.3215-4083C>G (n.3215-4083C>G) c.4022C>G (p.Ala1341Gly) c.2054C>G (p.Ala685Gly) c.710C>G (p.Ala237Gly) c.4069C>G c.5111C>G (p.Ala1704Gly) c.4565C>G (p.Ala1522Gly) c.4307-4083C>G (n.4307-4083C>G) n.253-4083C>G n.40-4083C>G c.798C>G c.4838C>G (p.Ala1613Gly) c.4034-4083C>G (n.4034-4083C>G) c.3473C>G (p.Ala1158Gly) c.5387C>G (p.Ala1796Gly) c.3488-4083C>G (n.3488-4083C>G) c.5114C>G (p.Ala1705Gly) c.4568C>G (p.Ala1523Gly) c.4580-4083C>G (n.4580-4083C>G) c.4295C>G (p.Ala1432Gly) c.3761-4083C>G (n.3761-4083C>G) c.3746C>G (p.Ala1249Gly) c.5660C>G (p.Ala1887Gly) c.5384C>G (p.Ala1795Gly) | |
9 | g.115046424G= | CA1874118862 | TNC | c.318-4083C= c.3215-4083C= (n.3215-4083C=) c.4022C= (p.Ala1341=) c.2054C= (p.Ala685=) c.710C= (p.Ala237=) c.4069C= c.5111C= (p.Ala1704=) c.4565C= (p.Ala1522=) c.4307-4083C= (n.4307-4083C=) n.253-4083C= n.40-4083C= c.798C= c.4838C= (p.Ala1613=) c.4034-4083C= (n.4034-4083C=) c.3473C= (p.Ala1158=) c.5387C= (p.Ala1796=) c.3488-4083C= (n.3488-4083C=) c.5114C= (p.Ala1705=) c.4568C= (p.Ala1523=) c.4580-4083C= (n.4580-4083C=) c.4295C= (p.Ala1432=) c.3761-4083C= (n.3761-4083C=) c.3746C= (p.Ala1249=) c.5660C= (p.Ala1887=) c.5384C= (p.Ala1795=) | |
9 | g.115046424G>T | CA374630533 | TNC | c.318-4083C>A c.3215-4083C>A (n.3215-4083C>A) c.4022C>A (p.Ala1341Asp) c.2054C>A (p.Ala685Asp) c.710C>A (p.Ala237Asp) c.4069C>A c.5111C>A (p.Ala1704Asp) c.4565C>A (p.Ala1522Asp) c.4307-4083C>A (n.4307-4083C>A) n.253-4083C>A n.40-4083C>A c.798C>A c.4838C>A (p.Ala1613Asp) c.4034-4083C>A (n.4034-4083C>A) c.3473C>A (p.Ala1158Asp) c.5387C>A (p.Ala1796Asp) c.3488-4083C>A (n.3488-4083C>A) c.5114C>A (p.Ala1705Asp) c.4568C>A (p.Ala1523Asp) c.4580-4083C>A (n.4580-4083C>A) c.4295C>A (p.Ala1432Asp) c.3761-4083C>A (n.3761-4083C>A) c.3746C>A (p.Ala1249Asp) c.5660C>A (p.Ala1887Asp) c.5384C>A (p.Ala1795Asp) | |
9 | g.115046425C>A | CA5207755 | TNC | c.318-4084G>T c.3215-4084G>T (n.3215-4084G>T) c.4021G>T (p.Ala1341Ser) c.2053G>T (p.Ala685Ser) c.709G>T (p.Ala237Ser) c.4068G>T c.5110G>T (p.Ala1704Ser) c.4564G>T (p.Ala1522Ser) c.4307-4084G>T (n.4307-4084G>T) n.253-4084G>T n.40-4084G>T c.797G>T c.4837G>T (p.Ala1613Ser) c.4034-4084G>T (n.4034-4084G>T) c.3472G>T (p.Ala1158Ser) c.5386G>T (p.Ala1796Ser) c.3488-4084G>T (n.3488-4084G>T) c.5113G>T (p.Ala1705Ser) c.4567G>T (p.Ala1523Ser) c.4580-4084G>T (n.4580-4084G>T) c.4294G>T (p.Ala1432Ser) c.3761-4084G>T (n.3761-4084G>T) c.3745G>T (p.Ala1249Ser) c.5659G>T (p.Ala1887Ser) c.5383G>T (p.Ala1795Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046425C= | CA1874118863 | TNC | c.318-4084G= c.3215-4084G= (n.3215-4084G=) c.4021G= (p.Ala1341=) c.2053G= (p.Ala685=) c.709G= (p.Ala237=) c.4068G= c.5110G= (p.Ala1704=) c.4564G= (p.Ala1522=) c.4307-4084G= (n.4307-4084G=) n.253-4084G= n.40-4084G= c.797G= c.4837G= (p.Ala1613=) c.4034-4084G= (n.4034-4084G=) c.3472G= (p.Ala1158=) c.5386G= (p.Ala1796=) c.3488-4084G= (n.3488-4084G=) c.5113G= (p.Ala1705=) c.4567G= (p.Ala1523=) c.4580-4084G= (n.4580-4084G=) c.4294G= (p.Ala1432=) c.3761-4084G= (n.3761-4084G=) c.3745G= (p.Ala1249=) c.5659G= (p.Ala1887=) c.5383G= (p.Ala1795=) | |
9 | g.115046425C>G | CA374630536 | TNC | c.318-4084G>C c.3215-4084G>C (n.3215-4084G>C) c.4021G>C (p.Ala1341Pro) c.2053G>C (p.Ala685Pro) c.709G>C (p.Ala237Pro) c.4068G>C c.5110G>C (p.Ala1704Pro) c.4564G>C (p.Ala1522Pro) c.4307-4084G>C (n.4307-4084G>C) n.253-4084G>C n.40-4084G>C c.797G>C c.4837G>C (p.Ala1613Pro) c.4034-4084G>C (n.4034-4084G>C) c.3472G>C (p.Ala1158Pro) c.5386G>C (p.Ala1796Pro) c.3488-4084G>C (n.3488-4084G>C) c.5113G>C (p.Ala1705Pro) c.4567G>C (p.Ala1523Pro) c.4580-4084G>C (n.4580-4084G>C) c.4294G>C (p.Ala1432Pro) c.3761-4084G>C (n.3761-4084G>C) c.3745G>C (p.Ala1249Pro) c.5659G>C (p.Ala1887Pro) c.5383G>C (p.Ala1795Pro) | |
9 | g.115046425C>T | CA374630538 | TNC | c.318-4084G>A c.3215-4084G>A (n.3215-4084G>A) c.4021G>A (p.Ala1341Thr) c.2053G>A (p.Ala685Thr) c.709G>A (p.Ala237Thr) c.4068G>A c.5110G>A (p.Ala1704Thr) c.4564G>A (p.Ala1522Thr) c.4307-4084G>A (n.4307-4084G>A) n.253-4084G>A n.40-4084G>A c.797G>A c.4837G>A (p.Ala1613Thr) c.4034-4084G>A (n.4034-4084G>A) c.3472G>A (p.Ala1158Thr) c.5386G>A (p.Ala1796Thr) c.3488-4084G>A (n.3488-4084G>A) c.5113G>A (p.Ala1705Thr) c.4567G>A (p.Ala1523Thr) c.4580-4084G>A (n.4580-4084G>A) c.4294G>A (p.Ala1432Thr) c.3761-4084G>A (n.3761-4084G>A) c.3745G>A (p.Ala1249Thr) c.5659G>A (p.Ala1887Thr) c.5383G>A (p.Ala1795Thr) | |
9 | g.115046426A= | CA1874118864 | TNC | c.318-4085T= c.3215-4085T= (n.3215-4085T=) c.4020T= (p.Ser1340=) c.2052T= (p.Ser684=) c.708T= (p.Ser236=) c.4067T= c.5109T= (p.Ser1703=) c.4563T= (p.Ser1521=) c.4307-4085T= (n.4307-4085T=) n.253-4085T= n.40-4085T= c.796T= c.4836T= (p.Ser1612=) c.4034-4085T= (n.4034-4085T=) c.3471T= (p.Ser1157=) c.5385T= (p.Ser1795=) c.3488-4085T= (n.3488-4085T=) c.5112T= (p.Ser1704=) c.4566T= (p.Ser1522=) c.4580-4085T= (n.4580-4085T=) c.4293T= (p.Ser1431=) c.3761-4085T= (n.3761-4085T=) c.3744T= (p.Ser1248=) c.5658T= (p.Ser1886=) c.5382T= (p.Ser1794=) | |
9 | g.115046426A>C | CA374630543 | TNC | c.318-4085T>G c.3215-4085T>G (n.3215-4085T>G) c.4020T>G (p.Ser1340Arg) c.2052T>G (p.Ser684Arg) c.708T>G (p.Ser236Arg) c.4067T>G c.5109T>G (p.Ser1703Arg) c.4563T>G (p.Ser1521Arg) c.4307-4085T>G (n.4307-4085T>G) n.253-4085T>G n.40-4085T>G c.796T>G c.4836T>G (p.Ser1612Arg) c.4034-4085T>G (n.4034-4085T>G) c.3471T>G (p.Ser1157Arg) c.5385T>G (p.Ser1795Arg) c.3488-4085T>G (n.3488-4085T>G) c.5112T>G (p.Ser1704Arg) c.4566T>G (p.Ser1522Arg) c.4580-4085T>G (n.4580-4085T>G) c.4293T>G (p.Ser1431Arg) c.3761-4085T>G (n.3761-4085T>G) c.3744T>G (p.Ser1248Arg) c.5658T>G (p.Ser1886Arg) c.5382T>G (p.Ser1794Arg) | dbSNP |
9 | g.115046426A>G | CA5207756 | TNC | c.318-4085T>C c.3215-4085T>C (n.3215-4085T>C) c.4020T>C (p.Ser1340=) c.2052T>C (p.Ser684=) c.708T>C (p.Ser236=) c.4067T>C c.5109T>C (p.Ser1703=) c.4563T>C (p.Ser1521=) c.4307-4085T>C (n.4307-4085T>C) n.253-4085T>C n.40-4085T>C c.796T>C c.4836T>C (p.Ser1612=) c.4034-4085T>C (n.4034-4085T>C) c.3471T>C (p.Ser1157=) c.5385T>C (p.Ser1795=) c.3488-4085T>C (n.3488-4085T>C) c.5112T>C (p.Ser1704=) c.4566T>C (p.Ser1522=) c.4580-4085T>C (n.4580-4085T>C) c.4293T>C (p.Ser1431=) c.3761-4085T>C (n.3761-4085T>C) c.3744T>C (p.Ser1248=) c.5658T>C (p.Ser1886=) c.5382T>C (p.Ser1794=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046426A>T | CA374630541 | TNC | c.318-4085T>A c.3215-4085T>A (n.3215-4085T>A) c.4020T>A (p.Ser1340Arg) c.2052T>A (p.Ser684Arg) c.708T>A (p.Ser236Arg) c.4067T>A c.5109T>A (p.Ser1703Arg) c.4563T>A (p.Ser1521Arg) c.4307-4085T>A (n.4307-4085T>A) n.253-4085T>A n.40-4085T>A c.796T>A c.4836T>A (p.Ser1612Arg) c.4034-4085T>A (n.4034-4085T>A) c.3471T>A (p.Ser1157Arg) c.5385T>A (p.Ser1795Arg) c.3488-4085T>A (n.3488-4085T>A) c.5112T>A (p.Ser1704Arg) c.4566T>A (p.Ser1522Arg) c.4580-4085T>A (n.4580-4085T>A) c.4293T>A (p.Ser1431Arg) c.3761-4085T>A (n.3761-4085T>A) c.3744T>A (p.Ser1248Arg) c.5658T>A (p.Ser1886Arg) c.5382T>A (p.Ser1794Arg) | |
9 | g.115046427C>A | CA374630544 | TNC | c.318-4086G>T c.3215-4086G>T (n.3215-4086G>T) c.4019G>T (p.Ser1340Ile) c.2051G>T (p.Ser684Ile) c.707G>T (p.Ser236Ile) c.4066G>T c.5108G>T (p.Ser1703Ile) c.4562G>T (p.Ser1521Ile) c.4307-4086G>T (n.4307-4086G>T) n.253-4086G>T n.40-4086G>T c.795G>T c.4835G>T (p.Ser1612Ile) c.4034-4086G>T (n.4034-4086G>T) c.3470G>T (p.Ser1157Ile) c.5384G>T (p.Ser1795Ile) c.3488-4086G>T (n.3488-4086G>T) c.5111G>T (p.Ser1704Ile) c.4565G>T (p.Ser1522Ile) c.4580-4086G>T (n.4580-4086G>T) c.4292G>T (p.Ser1431Ile) c.3761-4086G>T (n.3761-4086G>T) c.3743G>T (p.Ser1248Ile) c.5657G>T (p.Ser1886Ile) c.5381G>T (p.Ser1794Ile) | gnomAD v4 |
9 | g.115046427C= | CA1874118865 | TNC | c.318-4086G= c.3215-4086G= (n.3215-4086G=) c.4019G= (p.Ser1340=) c.2051G= (p.Ser684=) c.707G= (p.Ser236=) c.4066G= c.5108G= (p.Ser1703=) c.4562G= (p.Ser1521=) c.4307-4086G= (n.4307-4086G=) n.253-4086G= n.40-4086G= c.795G= c.4835G= (p.Ser1612=) c.4034-4086G= (n.4034-4086G=) c.3470G= (p.Ser1157=) c.5384G= (p.Ser1795=) c.3488-4086G= (n.3488-4086G=) c.5111G= (p.Ser1704=) c.4565G= (p.Ser1522=) c.4580-4086G= (n.4580-4086G=) c.4292G= (p.Ser1431=) c.3761-4086G= (n.3761-4086G=) c.3743G= (p.Ser1248=) c.5657G= (p.Ser1886=) c.5381G= (p.Ser1794=) | |
9 | g.115046427C>G | CA374630546 | TNC | c.318-4086G>C c.3215-4086G>C (n.3215-4086G>C) c.4019G>C (p.Ser1340Thr) c.2051G>C (p.Ser684Thr) c.707G>C (p.Ser236Thr) c.4066G>C c.5108G>C (p.Ser1703Thr) c.4562G>C (p.Ser1521Thr) c.4307-4086G>C (n.4307-4086G>C) n.253-4086G>C n.40-4086G>C c.795G>C c.4835G>C (p.Ser1612Thr) c.4034-4086G>C (n.4034-4086G>C) c.3470G>C (p.Ser1157Thr) c.5384G>C (p.Ser1795Thr) c.3488-4086G>C (n.3488-4086G>C) c.5111G>C (p.Ser1704Thr) c.4565G>C (p.Ser1522Thr) c.4580-4086G>C (n.4580-4086G>C) c.4292G>C (p.Ser1431Thr) c.3761-4086G>C (n.3761-4086G>C) c.3743G>C (p.Ser1248Thr) c.5657G>C (p.Ser1886Thr) c.5381G>C (p.Ser1794Thr) | |
9 | g.115046427C>T | CA374630548 | TNC | c.318-4086G>A c.3215-4086G>A (n.3215-4086G>A) c.4019G>A (p.Ser1340Asn) c.2051G>A (p.Ser684Asn) c.707G>A (p.Ser236Asn) c.4066G>A c.5108G>A (p.Ser1703Asn) c.4562G>A (p.Ser1521Asn) c.4307-4086G>A (n.4307-4086G>A) n.253-4086G>A n.40-4086G>A c.795G>A c.4835G>A (p.Ser1612Asn) c.4034-4086G>A (n.4034-4086G>A) c.3470G>A (p.Ser1157Asn) c.5384G>A (p.Ser1795Asn) c.3488-4086G>A (n.3488-4086G>A) c.5111G>A (p.Ser1704Asn) c.4565G>A (p.Ser1522Asn) c.4580-4086G>A (n.4580-4086G>A) c.4292G>A (p.Ser1431Asn) c.3761-4086G>A (n.3761-4086G>A) c.3743G>A (p.Ser1248Asn) c.5657G>A (p.Ser1886Asn) c.5381G>A (p.Ser1794Asn) | ClinVar dbSNP gnomAD v4 |
9 | g.115046428T>A | CA374630550 | TNC | c.318-4087A>T c.3215-4087A>T (n.3215-4087A>T) c.4018A>T (p.Ser1340Cys) c.2050A>T (p.Ser684Cys) c.706A>T (p.Ser236Cys) c.4065A>T c.5107A>T (p.Ser1703Cys) c.4561A>T (p.Ser1521Cys) c.4307-4087A>T (n.4307-4087A>T) n.253-4087A>T n.40-4087A>T c.794A>T c.4834A>T (p.Ser1612Cys) c.4034-4087A>T (n.4034-4087A>T) c.3469A>T (p.Ser1157Cys) c.5383A>T (p.Ser1795Cys) c.3488-4087A>T (n.3488-4087A>T) c.5110A>T (p.Ser1704Cys) c.4564A>T (p.Ser1522Cys) c.4580-4087A>T (n.4580-4087A>T) c.4291A>T (p.Ser1431Cys) c.3761-4087A>T (n.3761-4087A>T) c.3742A>T (p.Ser1248Cys) c.5656A>T (p.Ser1886Cys) c.5380A>T (p.Ser1794Cys) | |
9 | g.115046428T>C | CA374630552 | TNC | c.318-4087A>G c.3215-4087A>G (n.3215-4087A>G) c.4018A>G (p.Ser1340Gly) c.2050A>G (p.Ser684Gly) c.706A>G (p.Ser236Gly) c.4065A>G c.5107A>G (p.Ser1703Gly) c.4561A>G (p.Ser1521Gly) c.4307-4087A>G (n.4307-4087A>G) n.253-4087A>G n.40-4087A>G c.794A>G c.4834A>G (p.Ser1612Gly) c.4034-4087A>G (n.4034-4087A>G) c.3469A>G (p.Ser1157Gly) c.5383A>G (p.Ser1795Gly) c.3488-4087A>G (n.3488-4087A>G) c.5110A>G (p.Ser1704Gly) c.4564A>G (p.Ser1522Gly) c.4580-4087A>G (n.4580-4087A>G) c.4291A>G (p.Ser1431Gly) c.3761-4087A>G (n.3761-4087A>G) c.3742A>G (p.Ser1248Gly) c.5656A>G (p.Ser1886Gly) c.5380A>G (p.Ser1794Gly) | |
9 | g.115046428T>G | CA374630554 | TNC | c.318-4087A>C c.3215-4087A>C (n.3215-4087A>C) c.4018A>C (p.Ser1340Arg) c.2050A>C (p.Ser684Arg) c.706A>C (p.Ser236Arg) c.4065A>C c.5107A>C (p.Ser1703Arg) c.4561A>C (p.Ser1521Arg) c.4307-4087A>C (n.4307-4087A>C) n.253-4087A>C n.40-4087A>C c.794A>C c.4834A>C (p.Ser1612Arg) c.4034-4087A>C (n.4034-4087A>C) c.3469A>C (p.Ser1157Arg) c.5383A>C (p.Ser1795Arg) c.3488-4087A>C (n.3488-4087A>C) c.5110A>C (p.Ser1704Arg) c.4564A>C (p.Ser1522Arg) c.4580-4087A>C (n.4580-4087A>C) c.4291A>C (p.Ser1431Arg) c.3761-4087A>C (n.3761-4087A>C) c.3742A>C (p.Ser1248Arg) c.5656A>C (p.Ser1886Arg) c.5380A>C (p.Ser1794Arg) | |
9 | g.115046429G>A | CA466912320 | TNC | c.318-4088C>T c.3215-4088C>T (n.3215-4088C>T) c.4017C>T (p.Val1339=) c.2049C>T (p.Val683=) c.705C>T (p.Val235=) c.4064C>T c.5106C>T (p.Val1702=) c.4560C>T (p.Val1520=) c.4307-4088C>T (n.4307-4088C>T) n.253-4088C>T n.40-4088C>T c.793C>T c.4833C>T (p.Val1611=) c.4034-4088C>T (n.4034-4088C>T) c.3468C>T (p.Val1156=) c.5382C>T (p.Val1794=) c.3488-4088C>T (n.3488-4088C>T) c.5109C>T (p.Val1703=) c.4563C>T (p.Val1521=) c.4580-4088C>T (n.4580-4088C>T) c.4290C>T (p.Val1430=) c.3761-4088C>T (n.3761-4088C>T) c.3741C>T (p.Val1247=) c.5655C>T (p.Val1885=) c.5379C>T (p.Val1793=) | |
9 | g.115046429G>C | CA466912321 | TNC | c.318-4088C>G c.3215-4088C>G (n.3215-4088C>G) c.4017C>G (p.Val1339=) c.2049C>G (p.Val683=) c.705C>G (p.Val235=) c.4064C>G c.5106C>G (p.Val1702=) c.4560C>G (p.Val1520=) c.4307-4088C>G (n.4307-4088C>G) n.253-4088C>G n.40-4088C>G c.793C>G c.4833C>G (p.Val1611=) c.4034-4088C>G (n.4034-4088C>G) c.3468C>G (p.Val1156=) c.5382C>G (p.Val1794=) c.3488-4088C>G (n.3488-4088C>G) c.5109C>G (p.Val1703=) c.4563C>G (p.Val1521=) c.4580-4088C>G (n.4580-4088C>G) c.4290C>G (p.Val1430=) c.3761-4088C>G (n.3761-4088C>G) c.3741C>G (p.Val1247=) c.5655C>G (p.Val1885=) c.5379C>G (p.Val1793=) | |
9 | g.115046429G>T | CA466912322 | TNC | c.318-4088C>A c.3215-4088C>A (n.3215-4088C>A) c.4017C>A (p.Val1339=) c.2049C>A (p.Val683=) c.705C>A (p.Val235=) c.4064C>A c.5106C>A (p.Val1702=) c.4560C>A (p.Val1520=) c.4307-4088C>A (n.4307-4088C>A) n.253-4088C>A n.40-4088C>A c.793C>A c.4833C>A (p.Val1611=) c.4034-4088C>A (n.4034-4088C>A) c.3468C>A (p.Val1156=) c.5382C>A (p.Val1794=) c.3488-4088C>A (n.3488-4088C>A) c.5109C>A (p.Val1703=) c.4563C>A (p.Val1521=) c.4580-4088C>A (n.4580-4088C>A) c.4290C>A (p.Val1430=) c.3761-4088C>A (n.3761-4088C>A) c.3741C>A (p.Val1247=) c.5655C>A (p.Val1885=) c.5379C>A (p.Val1793=) | |
9 | g.115046430A>C | CA374630556 | TNC | c.318-4089T>G c.3215-4089T>G (n.3215-4089T>G) c.4016T>G (p.Val1339Gly) c.2048T>G (p.Val683Gly) c.704T>G (p.Val235Gly) c.4063T>G c.5105T>G (p.Val1702Gly) c.4559T>G (p.Val1520Gly) c.4307-4089T>G (n.4307-4089T>G) n.253-4089T>G n.40-4089T>G c.792T>G c.4832T>G (p.Val1611Gly) c.4034-4089T>G (n.4034-4089T>G) c.3467T>G (p.Val1156Gly) c.5381T>G (p.Val1794Gly) c.3488-4089T>G (n.3488-4089T>G) c.5108T>G (p.Val1703Gly) c.4562T>G (p.Val1521Gly) c.4580-4089T>G (n.4580-4089T>G) c.4289T>G (p.Val1430Gly) c.3761-4089T>G (n.3761-4089T>G) c.3740T>G (p.Val1247Gly) c.5654T>G (p.Val1885Gly) c.5378T>G (p.Val1793Gly) | |
9 | g.115046430A>G | CA374630558 | TNC | c.318-4089T>C c.3215-4089T>C (n.3215-4089T>C) c.4016T>C (p.Val1339Ala) c.2048T>C (p.Val683Ala) c.704T>C (p.Val235Ala) c.4063T>C c.5105T>C (p.Val1702Ala) c.4559T>C (p.Val1520Ala) c.4307-4089T>C (n.4307-4089T>C) n.253-4089T>C n.40-4089T>C c.792T>C c.4832T>C (p.Val1611Ala) c.4034-4089T>C (n.4034-4089T>C) c.3467T>C (p.Val1156Ala) c.5381T>C (p.Val1794Ala) c.3488-4089T>C (n.3488-4089T>C) c.5108T>C (p.Val1703Ala) c.4562T>C (p.Val1521Ala) c.4580-4089T>C (n.4580-4089T>C) c.4289T>C (p.Val1430Ala) c.3761-4089T>C (n.3761-4089T>C) c.3740T>C (p.Val1247Ala) c.5654T>C (p.Val1885Ala) c.5378T>C (p.Val1793Ala) | |
9 | g.115046430A>T | CA374630560 | TNC | c.318-4089T>A c.3215-4089T>A (n.3215-4089T>A) c.4016T>A (p.Val1339Asp) c.2048T>A (p.Val683Asp) c.704T>A (p.Val235Asp) c.4063T>A c.5105T>A (p.Val1702Asp) c.4559T>A (p.Val1520Asp) c.4307-4089T>A (n.4307-4089T>A) n.253-4089T>A n.40-4089T>A c.792T>A c.4832T>A (p.Val1611Asp) c.4034-4089T>A (n.4034-4089T>A) c.3467T>A (p.Val1156Asp) c.5381T>A (p.Val1794Asp) c.3488-4089T>A (n.3488-4089T>A) c.5108T>A (p.Val1703Asp) c.4562T>A (p.Val1521Asp) c.4580-4089T>A (n.4580-4089T>A) c.4289T>A (p.Val1430Asp) c.3761-4089T>A (n.3761-4089T>A) c.3740T>A (p.Val1247Asp) c.5654T>A (p.Val1885Asp) c.5378T>A (p.Val1793Asp) | |
9 | g.115046431C>A | CA374630562 | TNC | c.318-4090G>T c.3215-4090G>T (n.3215-4090G>T) c.4015G>T (p.Val1339Phe) c.2047G>T (p.Val683Phe) c.703G>T (p.Val235Phe) c.4062G>T c.5104G>T (p.Val1702Phe) c.4558G>T (p.Val1520Phe) c.4307-4090G>T (n.4307-4090G>T) n.253-4090G>T n.40-4090G>T c.791G>T c.4831G>T (p.Val1611Phe) c.4034-4090G>T (n.4034-4090G>T) c.3466G>T (p.Val1156Phe) c.5380G>T (p.Val1794Phe) c.3488-4090G>T (n.3488-4090G>T) c.5107G>T (p.Val1703Phe) c.4561G>T (p.Val1521Phe) c.4580-4090G>T (n.4580-4090G>T) c.4288G>T (p.Val1430Phe) c.3761-4090G>T (n.3761-4090G>T) c.3739G>T (p.Val1247Phe) c.5653G>T (p.Val1885Phe) c.5377G>T (p.Val1793Phe) | |
9 | g.115046431C>G | CA374630564 | TNC | c.318-4090G>C c.3215-4090G>C (n.3215-4090G>C) c.4015G>C (p.Val1339Leu) c.2047G>C (p.Val683Leu) c.703G>C (p.Val235Leu) c.4062G>C c.5104G>C (p.Val1702Leu) c.4558G>C (p.Val1520Leu) c.4307-4090G>C (n.4307-4090G>C) n.253-4090G>C n.40-4090G>C c.791G>C c.4831G>C (p.Val1611Leu) c.4034-4090G>C (n.4034-4090G>C) c.3466G>C (p.Val1156Leu) c.5380G>C (p.Val1794Leu) c.3488-4090G>C (n.3488-4090G>C) c.5107G>C (p.Val1703Leu) c.4561G>C (p.Val1521Leu) c.4580-4090G>C (n.4580-4090G>C) c.4288G>C (p.Val1430Leu) c.3761-4090G>C (n.3761-4090G>C) c.3739G>C (p.Val1247Leu) c.5653G>C (p.Val1885Leu) c.5377G>C (p.Val1793Leu) | |
9 | g.115046431C>T | CA374630565 | TNC | c.318-4090G>A c.3215-4090G>A (n.3215-4090G>A) c.4015G>A (p.Val1339Ile) c.2047G>A (p.Val683Ile) c.703G>A (p.Val235Ile) c.4062G>A c.5104G>A (p.Val1702Ile) c.4558G>A (p.Val1520Ile) c.4307-4090G>A (n.4307-4090G>A) n.253-4090G>A n.40-4090G>A c.791G>A c.4831G>A (p.Val1611Ile) c.4034-4090G>A (n.4034-4090G>A) c.3466G>A (p.Val1156Ile) c.5380G>A (p.Val1794Ile) c.3488-4090G>A (n.3488-4090G>A) c.5107G>A (p.Val1703Ile) c.4561G>A (p.Val1521Ile) c.4580-4090G>A (n.4580-4090G>A) c.4288G>A (p.Val1430Ile) c.3761-4090G>A (n.3761-4090G>A) c.3739G>A (p.Val1247Ile) c.5653G>A (p.Val1885Ile) c.5377G>A (p.Val1793Ile) | |
9 | g.115046432T>A | CA466912326 | TNC | c.318-4091A>T c.3215-4091A>T (n.3215-4091A>T) c.4014A>T (p.Thr1338=) c.2046A>T (p.Thr682=) c.702A>T (p.Thr234=) c.4061A>T c.5103A>T (p.Thr1701=) c.4557A>T (p.Thr1519=) c.4307-4091A>T (n.4307-4091A>T) n.253-4091A>T n.40-4091A>T c.790A>T c.4830A>T (p.Thr1610=) c.4034-4091A>T (n.4034-4091A>T) c.3465A>T (p.Thr1155=) c.5379A>T (p.Thr1793=) c.3488-4091A>T (n.3488-4091A>T) c.5106A>T (p.Thr1702=) c.4560A>T (p.Thr1520=) c.4580-4091A>T (n.4580-4091A>T) c.4287A>T (p.Thr1429=) c.3761-4091A>T (n.3761-4091A>T) c.3738A>T (p.Thr1246=) c.5652A>T (p.Thr1884=) c.5376A>T (p.Thr1792=) | |
9 | g.115046432T>C | CA466912327 | TNC | c.318-4091A>G c.3215-4091A>G (n.3215-4091A>G) c.4014A>G (p.Thr1338=) c.2046A>G (p.Thr682=) c.702A>G (p.Thr234=) c.4061A>G c.5103A>G (p.Thr1701=) c.4557A>G (p.Thr1519=) c.4307-4091A>G (n.4307-4091A>G) n.253-4091A>G n.40-4091A>G c.790A>G c.4830A>G (p.Thr1610=) c.4034-4091A>G (n.4034-4091A>G) c.3465A>G (p.Thr1155=) c.5379A>G (p.Thr1793=) c.3488-4091A>G (n.3488-4091A>G) c.5106A>G (p.Thr1702=) c.4560A>G (p.Thr1520=) c.4580-4091A>G (n.4580-4091A>G) c.4287A>G (p.Thr1429=) c.3761-4091A>G (n.3761-4091A>G) c.3738A>G (p.Thr1246=) c.5652A>G (p.Thr1884=) c.5376A>G (p.Thr1792=) | |
9 | g.115046432T>G | CA466912328 | TNC | c.318-4091A>C c.3215-4091A>C (n.3215-4091A>C) c.4014A>C (p.Thr1338=) c.2046A>C (p.Thr682=) c.702A>C (p.Thr234=) c.4061A>C c.5103A>C (p.Thr1701=) c.4557A>C (p.Thr1519=) c.4307-4091A>C (n.4307-4091A>C) n.253-4091A>C n.40-4091A>C c.790A>C c.4830A>C (p.Thr1610=) c.4034-4091A>C (n.4034-4091A>C) c.3465A>C (p.Thr1155=) c.5379A>C (p.Thr1793=) c.3488-4091A>C (n.3488-4091A>C) c.5106A>C (p.Thr1702=) c.4560A>C (p.Thr1520=) c.4580-4091A>C (n.4580-4091A>C) c.4287A>C (p.Thr1429=) c.3761-4091A>C (n.3761-4091A>C) c.3738A>C (p.Thr1246=) c.5652A>C (p.Thr1884=) c.5376A>C (p.Thr1792=) | |
9 | g.115046433G>A | CA5207757 | TNC | c.318-4092C>T c.3215-4092C>T (n.3215-4092C>T) c.4013C>T (p.Thr1338Ile) c.2045C>T (p.Thr682Ile) c.701C>T (p.Thr234Ile) c.4060C>T c.5102C>T (p.Thr1701Ile) c.4556C>T (p.Thr1519Ile) c.4307-4092C>T (n.4307-4092C>T) n.253-4092C>T n.40-4092C>T c.789C>T c.4829C>T (p.Thr1610Ile) c.4034-4092C>T (n.4034-4092C>T) c.3464C>T (p.Thr1155Ile) c.5378C>T (p.Thr1793Ile) c.3488-4092C>T (n.3488-4092C>T) c.5105C>T (p.Thr1702Ile) c.4559C>T (p.Thr1520Ile) c.4580-4092C>T (n.4580-4092C>T) c.4286C>T (p.Thr1429Ile) c.3761-4092C>T (n.3761-4092C>T) c.3737C>T (p.Thr1246Ile) c.5651C>T (p.Thr1884Ile) c.5375C>T (p.Thr1792Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046433G>C | CA374630567 | TNC | c.318-4092C>G c.3215-4092C>G (n.3215-4092C>G) c.4013C>G (p.Thr1338Arg) c.2045C>G (p.Thr682Arg) c.701C>G (p.Thr234Arg) c.4060C>G c.5102C>G (p.Thr1701Arg) c.4556C>G (p.Thr1519Arg) c.4307-4092C>G (n.4307-4092C>G) n.253-4092C>G n.40-4092C>G c.789C>G c.4829C>G (p.Thr1610Arg) c.4034-4092C>G (n.4034-4092C>G) c.3464C>G (p.Thr1155Arg) c.5378C>G (p.Thr1793Arg) c.3488-4092C>G (n.3488-4092C>G) c.5105C>G (p.Thr1702Arg) c.4559C>G (p.Thr1520Arg) c.4580-4092C>G (n.4580-4092C>G) c.4286C>G (p.Thr1429Arg) c.3761-4092C>G (n.3761-4092C>G) c.3737C>G (p.Thr1246Arg) c.5651C>G (p.Thr1884Arg) c.5375C>G (p.Thr1792Arg) | |
9 | g.115046433G= | CA1874118866 | TNC | c.318-4092C= c.3215-4092C= (n.3215-4092C=) c.4013C= (p.Thr1338=) c.2045C= (p.Thr682=) c.701C= (p.Thr234=) c.4060C= c.5102C= (p.Thr1701=) c.4556C= (p.Thr1519=) c.4307-4092C= (n.4307-4092C=) n.253-4092C= n.40-4092C= c.789C= c.4829C= (p.Thr1610=) c.4034-4092C= (n.4034-4092C=) c.3464C= (p.Thr1155=) c.5378C= (p.Thr1793=) c.3488-4092C= (n.3488-4092C=) c.5105C= (p.Thr1702=) c.4559C= (p.Thr1520=) c.4580-4092C= (n.4580-4092C=) c.4286C= (p.Thr1429=) c.3761-4092C= (n.3761-4092C=) c.3737C= (p.Thr1246=) c.5651C= (p.Thr1884=) c.5375C= (p.Thr1792=) | |
9 | g.115046433G>T | CA374630569 | TNC | c.318-4092C>A c.3215-4092C>A (n.3215-4092C>A) c.4013C>A (p.Thr1338Lys) c.2045C>A (p.Thr682Lys) c.701C>A (p.Thr234Lys) c.4060C>A c.5102C>A (p.Thr1701Lys) c.4556C>A (p.Thr1519Lys) c.4307-4092C>A (n.4307-4092C>A) n.253-4092C>A n.40-4092C>A c.789C>A c.4829C>A (p.Thr1610Lys) c.4034-4092C>A (n.4034-4092C>A) c.3464C>A (p.Thr1155Lys) c.5378C>A (p.Thr1793Lys) c.3488-4092C>A (n.3488-4092C>A) c.5105C>A (p.Thr1702Lys) c.4559C>A (p.Thr1520Lys) c.4580-4092C>A (n.4580-4092C>A) c.4286C>A (p.Thr1429Lys) c.3761-4092C>A (n.3761-4092C>A) c.3737C>A (p.Thr1246Lys) c.5651C>A (p.Thr1884Lys) c.5375C>A (p.Thr1792Lys) | |
9 | g.115046434T>A | CA374630573 | TNC | c.318-4093A>T c.3215-4093A>T (n.3215-4093A>T) c.4012A>T (p.Thr1338Ser) c.2044A>T (p.Thr682Ser) c.700A>T (p.Thr234Ser) c.4059A>T c.5101A>T (p.Thr1701Ser) c.4555A>T (p.Thr1519Ser) c.4307-4093A>T (n.4307-4093A>T) n.253-4093A>T n.40-4093A>T c.788A>T c.4828A>T (p.Thr1610Ser) c.4034-4093A>T (n.4034-4093A>T) c.3463A>T (p.Thr1155Ser) c.5377A>T (p.Thr1793Ser) c.3488-4093A>T (n.3488-4093A>T) c.5104A>T (p.Thr1702Ser) c.4558A>T (p.Thr1520Ser) c.4580-4093A>T (n.4580-4093A>T) c.4285A>T (p.Thr1429Ser) c.3761-4093A>T (n.3761-4093A>T) c.3736A>T (p.Thr1246Ser) c.5650A>T (p.Thr1884Ser) c.5374A>T (p.Thr1792Ser) | |
9 | g.115046434T>C | CA374630576 | TNC | c.318-4093A>G c.3215-4093A>G (n.3215-4093A>G) c.4012A>G (p.Thr1338Ala) c.2044A>G (p.Thr682Ala) c.700A>G (p.Thr234Ala) c.4059A>G c.5101A>G (p.Thr1701Ala) c.4555A>G (p.Thr1519Ala) c.4307-4093A>G (n.4307-4093A>G) n.253-4093A>G n.40-4093A>G c.788A>G c.4828A>G (p.Thr1610Ala) c.4034-4093A>G (n.4034-4093A>G) c.3463A>G (p.Thr1155Ala) c.5377A>G (p.Thr1793Ala) c.3488-4093A>G (n.3488-4093A>G) c.5104A>G (p.Thr1702Ala) c.4558A>G (p.Thr1520Ala) c.4580-4093A>G (n.4580-4093A>G) c.4285A>G (p.Thr1429Ala) c.3761-4093A>G (n.3761-4093A>G) c.3736A>G (p.Thr1246Ala) c.5650A>G (p.Thr1884Ala) c.5374A>G (p.Thr1792Ala) | |
9 | g.115046434T>G | CA374630574 | TNC | c.318-4093A>C c.3215-4093A>C (n.3215-4093A>C) c.4012A>C (p.Thr1338Pro) c.2044A>C (p.Thr682Pro) c.700A>C (p.Thr234Pro) c.4059A>C c.5101A>C (p.Thr1701Pro) c.4555A>C (p.Thr1519Pro) c.4307-4093A>C (n.4307-4093A>C) n.253-4093A>C n.40-4093A>C c.788A>C c.4828A>C (p.Thr1610Pro) c.4034-4093A>C (n.4034-4093A>C) c.3463A>C (p.Thr1155Pro) c.5377A>C (p.Thr1793Pro) c.3488-4093A>C (n.3488-4093A>C) c.5104A>C (p.Thr1702Pro) c.4558A>C (p.Thr1520Pro) c.4580-4093A>C (n.4580-4093A>C) c.4285A>C (p.Thr1429Pro) c.3761-4093A>C (n.3761-4093A>C) c.3736A>C (p.Thr1246Pro) c.5650A>C (p.Thr1884Pro) c.5374A>C (p.Thr1792Pro) | dbSNP gnomAD v4 |
9 | g.115046435C>A | CA374630577 | TNC | c.318-4094G>T c.3215-4094G>T (n.3215-4094G>T) c.4011G>T (p.Gln1337His) c.2043G>T (p.Gln681His) c.699G>T (p.Gln233His) c.4058G>T c.5100G>T (p.Gln1700His) c.4554G>T (p.Gln1518His) c.4307-4094G>T (n.4307-4094G>T) n.253-4094G>T n.40-4094G>T c.787G>T c.4827G>T (p.Gln1609His) c.4034-4094G>T (n.4034-4094G>T) c.3462G>T (p.Gln1154His) c.5376G>T (p.Gln1792His) c.3488-4094G>T (n.3488-4094G>T) c.5103G>T (p.Gln1701His) c.4557G>T (p.Gln1519His) c.4580-4094G>T (n.4580-4094G>T) c.4284G>T (p.Gln1428His) c.3761-4094G>T (n.3761-4094G>T) c.3735G>T (p.Gln1245His) c.5649G>T (p.Gln1883His) c.5373G>T (p.Gln1791His) | |
9 | g.115046435C= | CA1874118867 | TNC | c.318-4094G= c.3215-4094G= (n.3215-4094G=) c.4011G= (p.Gln1337=) c.2043G= (p.Gln681=) c.699G= (p.Gln233=) c.4058G= c.5100G= (p.Gln1700=) c.4554G= (p.Gln1518=) c.4307-4094G= (n.4307-4094G=) n.253-4094G= n.40-4094G= c.787G= c.4827G= (p.Gln1609=) c.4034-4094G= (n.4034-4094G=) c.3462G= (p.Gln1154=) c.5376G= (p.Gln1792=) c.3488-4094G= (n.3488-4094G=) c.5103G= (p.Gln1701=) c.4557G= (p.Gln1519=) c.4580-4094G= (n.4580-4094G=) c.4284G= (p.Gln1428=) c.3761-4094G= (n.3761-4094G=) c.3735G= (p.Gln1245=) c.5649G= (p.Gln1883=) c.5373G= (p.Gln1791=) | |
9 | g.115046435C>G | CA374630579 | TNC | c.318-4094G>C c.3215-4094G>C (n.3215-4094G>C) c.4011G>C (p.Gln1337His) c.2043G>C (p.Gln681His) c.699G>C (p.Gln233His) c.4058G>C c.5100G>C (p.Gln1700His) c.4554G>C (p.Gln1518His) c.4307-4094G>C (n.4307-4094G>C) n.253-4094G>C n.40-4094G>C c.787G>C c.4827G>C (p.Gln1609His) c.4034-4094G>C (n.4034-4094G>C) c.3462G>C (p.Gln1154His) c.5376G>C (p.Gln1792His) c.3488-4094G>C (n.3488-4094G>C) c.5103G>C (p.Gln1701His) c.4557G>C (p.Gln1519His) c.4580-4094G>C (n.4580-4094G>C) c.4284G>C (p.Gln1428His) c.3761-4094G>C (n.3761-4094G>C) c.3735G>C (p.Gln1245His) c.5649G>C (p.Gln1883His) c.5373G>C (p.Gln1791His) | |
9 | g.115046435C>T | CA466912329 | TNC | c.318-4094G>A c.3215-4094G>A (n.3215-4094G>A) c.4011G>A (p.Gln1337=) c.2043G>A (p.Gln681=) c.699G>A (p.Gln233=) c.4058G>A c.5100G>A (p.Gln1700=) c.4554G>A (p.Gln1518=) c.4307-4094G>A (n.4307-4094G>A) n.253-4094G>A n.40-4094G>A c.787G>A c.4827G>A (p.Gln1609=) c.4034-4094G>A (n.4034-4094G>A) c.3462G>A (p.Gln1154=) c.5376G>A (p.Gln1792=) c.3488-4094G>A (n.3488-4094G>A) c.5103G>A (p.Gln1701=) c.4557G>A (p.Gln1519=) c.4580-4094G>A (n.4580-4094G>A) c.4284G>A (p.Gln1428=) c.3761-4094G>A (n.3761-4094G>A) c.3735G>A (p.Gln1245=) c.5649G>A (p.Gln1883=) c.5373G>A (p.Gln1791=) | dbSNP |
9 | g.115046436T>A | CA374630582 | TNC | c.318-4095A>T c.3215-4095A>T (n.3215-4095A>T) c.4010A>T (p.Gln1337Leu) c.2042A>T (p.Gln681Leu) c.698A>T (p.Gln233Leu) c.4057A>T c.5099A>T (p.Gln1700Leu) c.4553A>T (p.Gln1518Leu) c.4307-4095A>T (n.4307-4095A>T) n.253-4095A>T n.40-4095A>T c.786A>T c.4826A>T (p.Gln1609Leu) c.4034-4095A>T (n.4034-4095A>T) c.3461A>T (p.Gln1154Leu) c.5375A>T (p.Gln1792Leu) c.3488-4095A>T (n.3488-4095A>T) c.5102A>T (p.Gln1701Leu) c.4556A>T (p.Gln1519Leu) c.4580-4095A>T (n.4580-4095A>T) c.4283A>T (p.Gln1428Leu) c.3761-4095A>T (n.3761-4095A>T) c.3734A>T (p.Gln1245Leu) c.5648A>T (p.Gln1883Leu) c.5372A>T (p.Gln1791Leu) | |
9 | g.115046436T>C | CA374630584 | TNC | c.318-4095A>G c.3215-4095A>G (n.3215-4095A>G) c.4010A>G (p.Gln1337Arg) c.2042A>G (p.Gln681Arg) c.698A>G (p.Gln233Arg) c.4057A>G c.5099A>G (p.Gln1700Arg) c.4553A>G (p.Gln1518Arg) c.4307-4095A>G (n.4307-4095A>G) n.253-4095A>G n.40-4095A>G c.786A>G c.4826A>G (p.Gln1609Arg) c.4034-4095A>G (n.4034-4095A>G) c.3461A>G (p.Gln1154Arg) c.5375A>G (p.Gln1792Arg) c.3488-4095A>G (n.3488-4095A>G) c.5102A>G (p.Gln1701Arg) c.4556A>G (p.Gln1519Arg) c.4580-4095A>G (n.4580-4095A>G) c.4283A>G (p.Gln1428Arg) c.3761-4095A>G (n.3761-4095A>G) c.3734A>G (p.Gln1245Arg) c.5648A>G (p.Gln1883Arg) c.5372A>G (p.Gln1791Arg) | |
9 | g.115046436T>G | CA374630586 | TNC | c.318-4095A>C c.3215-4095A>C (n.3215-4095A>C) c.4010A>C (p.Gln1337Pro) c.2042A>C (p.Gln681Pro) c.698A>C (p.Gln233Pro) c.4057A>C c.5099A>C (p.Gln1700Pro) c.4553A>C (p.Gln1518Pro) c.4307-4095A>C (n.4307-4095A>C) n.253-4095A>C n.40-4095A>C c.786A>C c.4826A>C (p.Gln1609Pro) c.4034-4095A>C (n.4034-4095A>C) c.3461A>C (p.Gln1154Pro) c.5375A>C (p.Gln1792Pro) c.3488-4095A>C (n.3488-4095A>C) c.5102A>C (p.Gln1701Pro) c.4556A>C (p.Gln1519Pro) c.4580-4095A>C (n.4580-4095A>C) c.4283A>C (p.Gln1428Pro) c.3761-4095A>C (n.3761-4095A>C) c.3734A>C (p.Gln1245Pro) c.5648A>C (p.Gln1883Pro) c.5372A>C (p.Gln1791Pro) | |
9 | g.115046437G>A | CA374630587 | TNC | c.318-4096C>T c.3215-4096C>T (n.3215-4096C>T) c.4009C>T (p.Gln1337Ter) c.2041C>T (p.Gln681Ter) c.697C>T (p.Gln233Ter) c.4056C>T c.5098C>T (p.Gln1700Ter) c.4552C>T (p.Gln1518Ter) c.4307-4096C>T (n.4307-4096C>T) n.253-4096C>T n.40-4096C>T c.785C>T c.4825C>T (p.Gln1609Ter) c.4034-4096C>T (n.4034-4096C>T) c.3460C>T (p.Gln1154Ter) c.5374C>T (p.Gln1792Ter) c.3488-4096C>T (n.3488-4096C>T) c.5101C>T (p.Gln1701Ter) c.4555C>T (p.Gln1519Ter) c.4580-4096C>T (n.4580-4096C>T) c.4282C>T (p.Gln1428Ter) c.3761-4096C>T (n.3761-4096C>T) c.3733C>T (p.Gln1245Ter) c.5647C>T (p.Gln1883Ter) c.5371C>T (p.Gln1791Ter) | |
9 | g.115046437G>C | CA374630589 | TNC | c.318-4096C>G c.3215-4096C>G (n.3215-4096C>G) c.4009C>G (p.Gln1337Glu) c.2041C>G (p.Gln681Glu) c.697C>G (p.Gln233Glu) c.4056C>G c.5098C>G (p.Gln1700Glu) c.4552C>G (p.Gln1518Glu) c.4307-4096C>G (n.4307-4096C>G) n.253-4096C>G n.40-4096C>G c.785C>G c.4825C>G (p.Gln1609Glu) c.4034-4096C>G (n.4034-4096C>G) c.3460C>G (p.Gln1154Glu) c.5374C>G (p.Gln1792Glu) c.3488-4096C>G (n.3488-4096C>G) c.5101C>G (p.Gln1701Glu) c.4555C>G (p.Gln1519Glu) c.4580-4096C>G (n.4580-4096C>G) c.4282C>G (p.Gln1428Glu) c.3761-4096C>G (n.3761-4096C>G) c.3733C>G (p.Gln1245Glu) c.5647C>G (p.Gln1883Glu) c.5371C>G (p.Gln1791Glu) | |
9 | g.115046437G>T | CA374630591 | TNC | c.318-4096C>A c.3215-4096C>A (n.3215-4096C>A) c.4009C>A (p.Gln1337Lys) c.2041C>A (p.Gln681Lys) c.697C>A (p.Gln233Lys) c.4056C>A c.5098C>A (p.Gln1700Lys) c.4552C>A (p.Gln1518Lys) c.4307-4096C>A (n.4307-4096C>A) n.253-4096C>A n.40-4096C>A c.785C>A c.4825C>A (p.Gln1609Lys) c.4034-4096C>A (n.4034-4096C>A) c.3460C>A (p.Gln1154Lys) c.5374C>A (p.Gln1792Lys) c.3488-4096C>A (n.3488-4096C>A) c.5101C>A (p.Gln1701Lys) c.4555C>A (p.Gln1519Lys) c.4580-4096C>A (n.4580-4096C>A) c.4282C>A (p.Gln1428Lys) c.3761-4096C>A (n.3761-4096C>A) c.3733C>A (p.Gln1245Lys) c.5647C>A (p.Gln1883Lys) c.5371C>A (p.Gln1791Lys) | |
9 | g.115046438G>A | CA466912333 | TNC | c.318-4097C>T c.3215-4097C>T (n.3215-4097C>T) c.4008C>T (p.Ser1336=) c.2040C>T (p.Ser680=) c.696C>T (p.Ser232=) c.4055C>T c.5097C>T (p.Ser1699=) c.4551C>T (p.Ser1517=) c.4307-4097C>T (n.4307-4097C>T) n.253-4097C>T n.40-4097C>T c.784C>T c.4824C>T (p.Ser1608=) c.4034-4097C>T (n.4034-4097C>T) c.3459C>T (p.Ser1153=) c.5373C>T (p.Ser1791=) c.3488-4097C>T (n.3488-4097C>T) c.5100C>T (p.Ser1700=) c.4554C>T (p.Ser1518=) c.4580-4097C>T (n.4580-4097C>T) c.4281C>T (p.Ser1427=) c.3761-4097C>T (n.3761-4097C>T) c.3732C>T (p.Ser1244=) c.5646C>T (p.Ser1882=) c.5370C>T (p.Ser1790=) | dbSNP gnomAD v4 |
9 | g.115046438G>C | CA466912334 | TNC | c.318-4097C>G c.3215-4097C>G (n.3215-4097C>G) c.4008C>G (p.Ser1336=) c.2040C>G (p.Ser680=) c.696C>G (p.Ser232=) c.4055C>G c.5097C>G (p.Ser1699=) c.4551C>G (p.Ser1517=) c.4307-4097C>G (n.4307-4097C>G) n.253-4097C>G n.40-4097C>G c.784C>G c.4824C>G (p.Ser1608=) c.4034-4097C>G (n.4034-4097C>G) c.3459C>G (p.Ser1153=) c.5373C>G (p.Ser1791=) c.3488-4097C>G (n.3488-4097C>G) c.5100C>G (p.Ser1700=) c.4554C>G (p.Ser1518=) c.4580-4097C>G (n.4580-4097C>G) c.4281C>G (p.Ser1427=) c.3761-4097C>G (n.3761-4097C>G) c.3732C>G (p.Ser1244=) c.5646C>G (p.Ser1882=) c.5370C>G (p.Ser1790=) | |
9 | g.115046438G= | CA1874118868 | TNC | c.318-4097C= c.3215-4097C= (n.3215-4097C=) c.4008C= (p.Ser1336=) c.2040C= (p.Ser680=) c.696C= (p.Ser232=) c.4055C= c.5097C= (p.Ser1699=) c.4551C= (p.Ser1517=) c.4307-4097C= (n.4307-4097C=) n.253-4097C= n.40-4097C= c.784C= c.4824C= (p.Ser1608=) c.4034-4097C= (n.4034-4097C=) c.3459C= (p.Ser1153=) c.5373C= (p.Ser1791=) c.3488-4097C= (n.3488-4097C=) c.5100C= (p.Ser1700=) c.4554C= (p.Ser1518=) c.4580-4097C= (n.4580-4097C=) c.4281C= (p.Ser1427=) c.3761-4097C= (n.3761-4097C=) c.3732C= (p.Ser1244=) c.5646C= (p.Ser1882=) c.5370C= (p.Ser1790=) | |
9 | g.115046438G>T | CA466912335 | TNC | c.318-4097C>A c.3215-4097C>A (n.3215-4097C>A) c.4008C>A (p.Ser1336=) c.2040C>A (p.Ser680=) c.696C>A (p.Ser232=) c.4055C>A c.5097C>A (p.Ser1699=) c.4551C>A (p.Ser1517=) c.4307-4097C>A (n.4307-4097C>A) n.253-4097C>A n.40-4097C>A c.784C>A c.4824C>A (p.Ser1608=) c.4034-4097C>A (n.4034-4097C>A) c.3459C>A (p.Ser1153=) c.5373C>A (p.Ser1791=) c.3488-4097C>A (n.3488-4097C>A) c.5100C>A (p.Ser1700=) c.4554C>A (p.Ser1518=) c.4580-4097C>A (n.4580-4097C>A) c.4281C>A (p.Ser1427=) c.3761-4097C>A (n.3761-4097C>A) c.3732C>A (p.Ser1244=) c.5646C>A (p.Ser1882=) c.5370C>A (p.Ser1790=) | |
9 | g.115046439G>A | CA374630593 | TNC | c.318-4098C>T c.3215-4098C>T (n.3215-4098C>T) c.4007C>T (p.Ser1336Phe) c.2039C>T (p.Ser680Phe) c.695C>T (p.Ser232Phe) c.4054C>T c.5096C>T (p.Ser1699Phe) c.4550C>T (p.Ser1517Phe) c.4307-4098C>T (n.4307-4098C>T) n.253-4098C>T n.40-4098C>T c.783C>T c.4823C>T (p.Ser1608Phe) c.4034-4098C>T (n.4034-4098C>T) c.3458C>T (p.Ser1153Phe) c.5372C>T (p.Ser1791Phe) c.3488-4098C>T (n.3488-4098C>T) c.5099C>T (p.Ser1700Phe) c.4553C>T (p.Ser1518Phe) c.4580-4098C>T (n.4580-4098C>T) c.4280C>T (p.Ser1427Phe) c.3761-4098C>T (n.3761-4098C>T) c.3731C>T (p.Ser1244Phe) c.5645C>T (p.Ser1882Phe) c.5369C>T (p.Ser1790Phe) | |
9 | g.115046439G>C | CA374630594 | TNC | c.318-4098C>G c.3215-4098C>G (n.3215-4098C>G) c.4007C>G (p.Ser1336Cys) c.2039C>G (p.Ser680Cys) c.695C>G (p.Ser232Cys) c.4054C>G c.5096C>G (p.Ser1699Cys) c.4550C>G (p.Ser1517Cys) c.4307-4098C>G (n.4307-4098C>G) n.253-4098C>G n.40-4098C>G c.783C>G c.4823C>G (p.Ser1608Cys) c.4034-4098C>G (n.4034-4098C>G) c.3458C>G (p.Ser1153Cys) c.5372C>G (p.Ser1791Cys) c.3488-4098C>G (n.3488-4098C>G) c.5099C>G (p.Ser1700Cys) c.4553C>G (p.Ser1518Cys) c.4580-4098C>G (n.4580-4098C>G) c.4280C>G (p.Ser1427Cys) c.3761-4098C>G (n.3761-4098C>G) c.3731C>G (p.Ser1244Cys) c.5645C>G (p.Ser1882Cys) c.5369C>G (p.Ser1790Cys) | dbSNP gnomAD v4 |
9 | g.115046439G= | CA1874118869 | TNC | c.318-4098C= c.3215-4098C= (n.3215-4098C=) c.4007C= (p.Ser1336=) c.2039C= (p.Ser680=) c.695C= (p.Ser232=) c.4054C= c.5096C= (p.Ser1699=) c.4550C= (p.Ser1517=) c.4307-4098C= (n.4307-4098C=) n.253-4098C= n.40-4098C= c.783C= c.4823C= (p.Ser1608=) c.4034-4098C= (n.4034-4098C=) c.3458C= (p.Ser1153=) c.5372C= (p.Ser1791=) c.3488-4098C= (n.3488-4098C=) c.5099C= (p.Ser1700=) c.4553C= (p.Ser1518=) c.4580-4098C= (n.4580-4098C=) c.4280C= (p.Ser1427=) c.3761-4098C= (n.3761-4098C=) c.3731C= (p.Ser1244=) c.5645C= (p.Ser1882=) c.5369C= (p.Ser1790=) | |
9 | g.115046439G>T | CA374630596 | TNC | c.318-4098C>A c.3215-4098C>A (n.3215-4098C>A) c.4007C>A (p.Ser1336Tyr) c.2039C>A (p.Ser680Tyr) c.695C>A (p.Ser232Tyr) c.4054C>A c.5096C>A (p.Ser1699Tyr) c.4550C>A (p.Ser1517Tyr) c.4307-4098C>A (n.4307-4098C>A) n.253-4098C>A n.40-4098C>A c.783C>A c.4823C>A (p.Ser1608Tyr) c.4034-4098C>A (n.4034-4098C>A) c.3458C>A (p.Ser1153Tyr) c.5372C>A (p.Ser1791Tyr) c.3488-4098C>A (n.3488-4098C>A) c.5099C>A (p.Ser1700Tyr) c.4553C>A (p.Ser1518Tyr) c.4580-4098C>A (n.4580-4098C>A) c.4280C>A (p.Ser1427Tyr) c.3761-4098C>A (n.3761-4098C>A) c.3731C>A (p.Ser1244Tyr) c.5645C>A (p.Ser1882Tyr) c.5369C>A (p.Ser1790Tyr) | dbSNP gnomAD v4 |
9 | g.115046440A>C | CA374630600 | TNC | c.318-4099T>G c.3215-4099T>G (n.3215-4099T>G) c.4006T>G (p.Ser1336Ala) c.2038T>G (p.Ser680Ala) c.694T>G (p.Ser232Ala) c.4053T>G c.5095T>G (p.Ser1699Ala) c.4549T>G (p.Ser1517Ala) c.4307-4099T>G (n.4307-4099T>G) n.253-4099T>G n.40-4099T>G c.782T>G c.4822T>G (p.Ser1608Ala) c.4034-4099T>G (n.4034-4099T>G) c.3457T>G (p.Ser1153Ala) c.5371T>G (p.Ser1791Ala) c.3488-4099T>G (n.3488-4099T>G) c.5098T>G (p.Ser1700Ala) c.4552T>G (p.Ser1518Ala) c.4580-4099T>G (n.4580-4099T>G) c.4279T>G (p.Ser1427Ala) c.3761-4099T>G (n.3761-4099T>G) c.3730T>G (p.Ser1244Ala) c.5644T>G (p.Ser1882Ala) c.5368T>G (p.Ser1790Ala) | |
9 | g.115046440A>G | CA374630599 | TNC | c.318-4099T>C c.3215-4099T>C (n.3215-4099T>C) c.4006T>C (p.Ser1336Pro) c.2038T>C (p.Ser680Pro) c.694T>C (p.Ser232Pro) c.4053T>C c.5095T>C (p.Ser1699Pro) c.4549T>C (p.Ser1517Pro) c.4307-4099T>C (n.4307-4099T>C) n.253-4099T>C n.40-4099T>C c.782T>C c.4822T>C (p.Ser1608Pro) c.4034-4099T>C (n.4034-4099T>C) c.3457T>C (p.Ser1153Pro) c.5371T>C (p.Ser1791Pro) c.3488-4099T>C (n.3488-4099T>C) c.5098T>C (p.Ser1700Pro) c.4552T>C (p.Ser1518Pro) c.4580-4099T>C (n.4580-4099T>C) c.4279T>C (p.Ser1427Pro) c.3761-4099T>C (n.3761-4099T>C) c.3730T>C (p.Ser1244Pro) c.5644T>C (p.Ser1882Pro) c.5368T>C (p.Ser1790Pro) | gnomAD v4 |
9 | g.115046440A>T | CA374630598 | TNC | c.318-4099T>A c.3215-4099T>A (n.3215-4099T>A) c.4006T>A (p.Ser1336Thr) c.2038T>A (p.Ser680Thr) c.694T>A (p.Ser232Thr) c.4053T>A c.5095T>A (p.Ser1699Thr) c.4549T>A (p.Ser1517Thr) c.4307-4099T>A (n.4307-4099T>A) n.253-4099T>A n.40-4099T>A c.782T>A c.4822T>A (p.Ser1608Thr) c.4034-4099T>A (n.4034-4099T>A) c.3457T>A (p.Ser1153Thr) c.5371T>A (p.Ser1791Thr) c.3488-4099T>A (n.3488-4099T>A) c.5098T>A (p.Ser1700Thr) c.4552T>A (p.Ser1518Thr) c.4580-4099T>A (n.4580-4099T>A) c.4279T>A (p.Ser1427Thr) c.3761-4099T>A (n.3761-4099T>A) c.3730T>A (p.Ser1244Thr) c.5644T>A (p.Ser1882Thr) c.5368T>A (p.Ser1790Thr) | |
9 | g.115046441T>A | CA466912337 | TNC | c.318-4100A>T c.3215-4100A>T (n.3215-4100A>T) c.4005A>T (p.Arg1335=) c.2037A>T (p.Arg679=) c.693A>T (p.Arg231=) c.4052A>T c.5094A>T (p.Arg1698=) c.4548A>T (p.Arg1516=) c.4307-4100A>T (n.4307-4100A>T) n.253-4100A>T n.40-4100A>T c.781A>T c.4821A>T (p.Arg1607=) c.4034-4100A>T (n.4034-4100A>T) c.3456A>T (p.Arg1152=) c.5370A>T (p.Arg1790=) c.3488-4100A>T (n.3488-4100A>T) c.5097A>T (p.Arg1699=) c.4551A>T (p.Arg1517=) c.4580-4100A>T (n.4580-4100A>T) c.4278A>T (p.Arg1426=) c.3761-4100A>T (n.3761-4100A>T) c.3729A>T (p.Arg1243=) c.5643A>T (p.Arg1881=) c.5367A>T (p.Arg1789=) | |
9 | g.115046441T>C | CA466912338 | TNC | c.318-4100A>G c.3215-4100A>G (n.3215-4100A>G) c.4005A>G (p.Arg1335=) c.2037A>G (p.Arg679=) c.693A>G (p.Arg231=) c.4052A>G c.5094A>G (p.Arg1698=) c.4548A>G (p.Arg1516=) c.4307-4100A>G (n.4307-4100A>G) n.253-4100A>G n.40-4100A>G c.781A>G c.4821A>G (p.Arg1607=) c.4034-4100A>G (n.4034-4100A>G) c.3456A>G (p.Arg1152=) c.5370A>G (p.Arg1790=) c.3488-4100A>G (n.3488-4100A>G) c.5097A>G (p.Arg1699=) c.4551A>G (p.Arg1517=) c.4580-4100A>G (n.4580-4100A>G) c.4278A>G (p.Arg1426=) c.3761-4100A>G (n.3761-4100A>G) c.3729A>G (p.Arg1243=) c.5643A>G (p.Arg1881=) c.5367A>G (p.Arg1789=) | |
9 | g.115046441T>G | CA466912339 | TNC | c.318-4100A>C c.3215-4100A>C (n.3215-4100A>C) c.4005A>C (p.Arg1335=) c.2037A>C (p.Arg679=) c.693A>C (p.Arg231=) c.4052A>C c.5094A>C (p.Arg1698=) c.4548A>C (p.Arg1516=) c.4307-4100A>C (n.4307-4100A>C) n.253-4100A>C n.40-4100A>C c.781A>C c.4821A>C (p.Arg1607=) c.4034-4100A>C (n.4034-4100A>C) c.3456A>C (p.Arg1152=) c.5370A>C (p.Arg1790=) c.3488-4100A>C (n.3488-4100A>C) c.5097A>C (p.Arg1699=) c.4551A>C (p.Arg1517=) c.4580-4100A>C (n.4580-4100A>C) c.4278A>C (p.Arg1426=) c.3761-4100A>C (n.3761-4100A>C) c.3729A>C (p.Arg1243=) c.5643A>C (p.Arg1881=) c.5367A>C (p.Arg1789=) | |
9 | g.115046442C>A | CA374630601 | TNC | c.318-4101G>T c.3215-4101G>T (n.3215-4101G>T) c.4004G>T (p.Arg1335Leu) c.2036G>T (p.Arg679Leu) c.692G>T (p.Arg231Leu) c.4051G>T c.5093G>T (p.Arg1698Leu) c.4547G>T (p.Arg1516Leu) c.4307-4101G>T (n.4307-4101G>T) n.253-4101G>T n.40-4101G>T c.780G>T c.4820G>T (p.Arg1607Leu) c.4034-4101G>T (n.4034-4101G>T) c.3455G>T (p.Arg1152Leu) c.5369G>T (p.Arg1790Leu) c.3488-4101G>T (n.3488-4101G>T) c.5096G>T (p.Arg1699Leu) c.4550G>T (p.Arg1517Leu) c.4580-4101G>T (n.4580-4101G>T) c.4277G>T (p.Arg1426Leu) c.3761-4101G>T (n.3761-4101G>T) c.3728G>T (p.Arg1243Leu) c.5642G>T (p.Arg1881Leu) c.5366G>T (p.Arg1789Leu) | gnomAD v4 |
9 | g.115046442C= | CA1874118870 | TNC | c.318-4101G= c.3215-4101G= (n.3215-4101G=) c.4004G= (p.Arg1335=) c.2036G= (p.Arg679=) c.692G= (p.Arg231=) c.4051G= c.5093G= (p.Arg1698=) c.4547G= (p.Arg1516=) c.4307-4101G= (n.4307-4101G=) n.253-4101G= n.40-4101G= c.780G= c.4820G= (p.Arg1607=) c.4034-4101G= (n.4034-4101G=) c.3455G= (p.Arg1152=) c.5369G= (p.Arg1790=) c.3488-4101G= (n.3488-4101G=) c.5096G= (p.Arg1699=) c.4550G= (p.Arg1517=) c.4580-4101G= (n.4580-4101G=) c.4277G= (p.Arg1426=) c.3761-4101G= (n.3761-4101G=) c.3728G= (p.Arg1243=) c.5642G= (p.Arg1881=) c.5366G= (p.Arg1789=) | |
9 | g.115046442C>G | CA5207759 | TNC | c.318-4101G>C c.3215-4101G>C (n.3215-4101G>C) c.4004G>C (p.Arg1335Pro) c.2036G>C (p.Arg679Pro) c.692G>C (p.Arg231Pro) c.4051G>C c.5093G>C (p.Arg1698Pro) c.4547G>C (p.Arg1516Pro) c.4307-4101G>C (n.4307-4101G>C) n.253-4101G>C n.40-4101G>C c.780G>C c.4820G>C (p.Arg1607Pro) c.4034-4101G>C (n.4034-4101G>C) c.3455G>C (p.Arg1152Pro) c.5369G>C (p.Arg1790Pro) c.3488-4101G>C (n.3488-4101G>C) c.5096G>C (p.Arg1699Pro) c.4550G>C (p.Arg1517Pro) c.4580-4101G>C (n.4580-4101G>C) c.4277G>C (p.Arg1426Pro) c.3761-4101G>C (n.3761-4101G>C) c.3728G>C (p.Arg1243Pro) c.5642G>C (p.Arg1881Pro) c.5366G>C (p.Arg1789Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046442C>T | CA5207758 | TNC | c.318-4101G>A c.3215-4101G>A (n.3215-4101G>A) c.4004G>A (p.Arg1335Gln) c.2036G>A (p.Arg679Gln) c.692G>A (p.Arg231Gln) c.4051G>A c.5093G>A (p.Arg1698Gln) c.4547G>A (p.Arg1516Gln) c.4307-4101G>A (n.4307-4101G>A) n.253-4101G>A n.40-4101G>A c.780G>A c.4820G>A (p.Arg1607Gln) c.4034-4101G>A (n.4034-4101G>A) c.3455G>A (p.Arg1152Gln) c.5369G>A (p.Arg1790Gln) c.3488-4101G>A (n.3488-4101G>A) c.5096G>A (p.Arg1699Gln) c.4550G>A (p.Arg1517Gln) c.4580-4101G>A (n.4580-4101G>A) c.4277G>A (p.Arg1426Gln) c.3761-4101G>A (n.3761-4101G>A) c.3728G>A (p.Arg1243Gln) c.5642G>A (p.Arg1881Gln) c.5366G>A (p.Arg1789Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046443G>A | CA374630605 | TNC | c.318-4102C>T c.3215-4102C>T (n.3215-4102C>T) c.4003C>T (p.Arg1335Ter) c.2035C>T (p.Arg679Ter) c.691C>T (p.Arg231Ter) c.4050C>T c.5092C>T (p.Arg1698Ter) c.4546C>T (p.Arg1516Ter) c.4307-4102C>T (n.4307-4102C>T) n.253-4102C>T n.40-4102C>T c.779C>T c.4819C>T (p.Arg1607Ter) c.4034-4102C>T (n.4034-4102C>T) c.3454C>T (p.Arg1152Ter) c.5368C>T (p.Arg1790Ter) c.3488-4102C>T (n.3488-4102C>T) c.5095C>T (p.Arg1699Ter) c.4549C>T (p.Arg1517Ter) c.4580-4102C>T (n.4580-4102C>T) c.4276C>T (p.Arg1426Ter) c.3761-4102C>T (n.3761-4102C>T) c.3727C>T (p.Arg1243Ter) c.5641C>T (p.Arg1881Ter) c.5365C>T (p.Arg1789Ter) | dbSNP gnomAD v4 |
9 | g.115046443G>C | CA374630607 | TNC | c.318-4102C>G c.3215-4102C>G (n.3215-4102C>G) c.4003C>G (p.Arg1335Gly) c.2035C>G (p.Arg679Gly) c.691C>G (p.Arg231Gly) c.4050C>G c.5092C>G (p.Arg1698Gly) c.4546C>G (p.Arg1516Gly) c.4307-4102C>G (n.4307-4102C>G) n.253-4102C>G n.40-4102C>G c.779C>G c.4819C>G (p.Arg1607Gly) c.4034-4102C>G (n.4034-4102C>G) c.3454C>G (p.Arg1152Gly) c.5368C>G (p.Arg1790Gly) c.3488-4102C>G (n.3488-4102C>G) c.5095C>G (p.Arg1699Gly) c.4549C>G (p.Arg1517Gly) c.4580-4102C>G (n.4580-4102C>G) c.4276C>G (p.Arg1426Gly) c.3761-4102C>G (n.3761-4102C>G) c.3727C>G (p.Arg1243Gly) c.5641C>G (p.Arg1881Gly) c.5365C>G (p.Arg1789Gly) | |
9 | g.115046443G= | CA1874118871 | TNC | c.318-4102C= c.3215-4102C= (n.3215-4102C=) c.4003C= (p.Arg1335=) c.2035C= (p.Arg679=) c.691C= (p.Arg231=) c.4050C= c.5092C= (p.Arg1698=) c.4546C= (p.Arg1516=) c.4307-4102C= (n.4307-4102C=) n.253-4102C= n.40-4102C= c.779C= c.4819C= (p.Arg1607=) c.4034-4102C= (n.4034-4102C=) c.3454C= (p.Arg1152=) c.5368C= (p.Arg1790=) c.3488-4102C= (n.3488-4102C=) c.5095C= (p.Arg1699=) c.4549C= (p.Arg1517=) c.4580-4102C= (n.4580-4102C=) c.4276C= (p.Arg1426=) c.3761-4102C= (n.3761-4102C=) c.3727C= (p.Arg1243=) c.5641C= (p.Arg1881=) c.5365C= (p.Arg1789=) | |
9 | g.115046443G>T | CA466912340 | TNC | c.318-4102C>A c.3215-4102C>A (n.3215-4102C>A) c.4003C>A (p.Arg1335=) c.2035C>A (p.Arg679=) c.691C>A (p.Arg231=) c.4050C>A c.5092C>A (p.Arg1698=) c.4546C>A (p.Arg1516=) c.4307-4102C>A (n.4307-4102C>A) n.253-4102C>A n.40-4102C>A c.779C>A c.4819C>A (p.Arg1607=) c.4034-4102C>A (n.4034-4102C>A) c.3454C>A (p.Arg1152=) c.5368C>A (p.Arg1790=) c.3488-4102C>A (n.3488-4102C>A) c.5095C>A (p.Arg1699=) c.4549C>A (p.Arg1517=) c.4580-4102C>A (n.4580-4102C>A) c.4276C>A (p.Arg1426=) c.3761-4102C>A (n.3761-4102C>A) c.3727C>A (p.Arg1243=) c.5641C>A (p.Arg1881=) c.5365C>A (p.Arg1789=) | |
9 | g.115046444C>A | CA374630609 | TNC | c.318-4103G>T c.3215-4103G>T (n.3215-4103G>T) c.4002G>T (p.Arg1334Ser) c.2034G>T (p.Arg678Ser) c.690G>T (p.Arg230Ser) c.4049G>T c.5091G>T (p.Arg1697Ser) c.4545G>T (p.Arg1515Ser) c.4307-4103G>T (n.4307-4103G>T) n.253-4103G>T n.40-4103G>T c.778G>T c.4818G>T (p.Arg1606Ser) c.4034-4103G>T (n.4034-4103G>T) c.3453G>T (p.Arg1151Ser) c.5367G>T (p.Arg1789Ser) c.3488-4103G>T (n.3488-4103G>T) c.5094G>T (p.Arg1698Ser) c.4548G>T (p.Arg1516Ser) c.4580-4103G>T (n.4580-4103G>T) c.4275G>T (p.Arg1425Ser) c.3761-4103G>T (n.3761-4103G>T) c.3726G>T (p.Arg1242Ser) c.5640G>T (p.Arg1880Ser) c.5364G>T (p.Arg1788Ser) | |
9 | g.115046444C>G | CA374630610 | TNC | c.318-4103G>C c.3215-4103G>C (n.3215-4103G>C) c.4002G>C (p.Arg1334Ser) c.2034G>C (p.Arg678Ser) c.690G>C (p.Arg230Ser) c.4049G>C c.5091G>C (p.Arg1697Ser) c.4545G>C (p.Arg1515Ser) c.4307-4103G>C (n.4307-4103G>C) n.253-4103G>C n.40-4103G>C c.778G>C c.4818G>C (p.Arg1606Ser) c.4034-4103G>C (n.4034-4103G>C) c.3453G>C (p.Arg1151Ser) c.5367G>C (p.Arg1789Ser) c.3488-4103G>C (n.3488-4103G>C) c.5094G>C (p.Arg1698Ser) c.4548G>C (p.Arg1516Ser) c.4580-4103G>C (n.4580-4103G>C) c.4275G>C (p.Arg1425Ser) c.3761-4103G>C (n.3761-4103G>C) c.3726G>C (p.Arg1242Ser) c.5640G>C (p.Arg1880Ser) c.5364G>C (p.Arg1788Ser) | |
9 | g.115046444C>T | CA466912344 | TNC | c.318-4103G>A c.3215-4103G>A (n.3215-4103G>A) c.4002G>A (p.Arg1334=) c.2034G>A (p.Arg678=) c.690G>A (p.Arg230=) c.4049G>A c.5091G>A (p.Arg1697=) c.4545G>A (p.Arg1515=) c.4307-4103G>A (n.4307-4103G>A) n.253-4103G>A n.40-4103G>A c.778G>A c.4818G>A (p.Arg1606=) c.4034-4103G>A (n.4034-4103G>A) c.3453G>A (p.Arg1151=) c.5367G>A (p.Arg1789=) c.3488-4103G>A (n.3488-4103G>A) c.5094G>A (p.Arg1698=) c.4548G>A (p.Arg1516=) c.4580-4103G>A (n.4580-4103G>A) c.4275G>A (p.Arg1425=) c.3761-4103G>A (n.3761-4103G>A) c.3726G>A (p.Arg1242=) c.5640G>A (p.Arg1880=) c.5364G>A (p.Arg1788=) | |
9 | g.115046445C>A | CA374630611 | TNC | c.318-4104G>T c.3215-4104G>T (n.3215-4104G>T) c.4001G>T (p.Arg1334Met) c.2033G>T (p.Arg678Met) c.689G>T (p.Arg230Met) c.4048G>T c.5090G>T (p.Arg1697Met) c.4544G>T (p.Arg1515Met) c.4307-4104G>T (n.4307-4104G>T) n.253-4104G>T n.40-4104G>T c.777G>T c.4817G>T (p.Arg1606Met) c.4034-4104G>T (n.4034-4104G>T) c.3452G>T (p.Arg1151Met) c.5366G>T (p.Arg1789Met) c.3488-4104G>T (n.3488-4104G>T) c.5093G>T (p.Arg1698Met) c.4547G>T (p.Arg1516Met) c.4580-4104G>T (n.4580-4104G>T) c.4274G>T (p.Arg1425Met) c.3761-4104G>T (n.3761-4104G>T) c.3725G>T (p.Arg1242Met) c.5639G>T (p.Arg1880Met) c.5363G>T (p.Arg1788Met) | |
9 | g.115046445C>G | CA374630612 | TNC | c.318-4104G>C c.3215-4104G>C (n.3215-4104G>C) c.4001G>C (p.Arg1334Thr) c.2033G>C (p.Arg678Thr) c.689G>C (p.Arg230Thr) c.4048G>C c.5090G>C (p.Arg1697Thr) c.4544G>C (p.Arg1515Thr) c.4307-4104G>C (n.4307-4104G>C) n.253-4104G>C n.40-4104G>C c.777G>C c.4817G>C (p.Arg1606Thr) c.4034-4104G>C (n.4034-4104G>C) c.3452G>C (p.Arg1151Thr) c.5366G>C (p.Arg1789Thr) c.3488-4104G>C (n.3488-4104G>C) c.5093G>C (p.Arg1698Thr) c.4547G>C (p.Arg1516Thr) c.4580-4104G>C (n.4580-4104G>C) c.4274G>C (p.Arg1425Thr) c.3761-4104G>C (n.3761-4104G>C) c.3725G>C (p.Arg1242Thr) c.5639G>C (p.Arg1880Thr) c.5363G>C (p.Arg1788Thr) | |
9 | g.115046445C>T | CA374630614 | TNC | c.318-4104G>A c.3215-4104G>A (n.3215-4104G>A) c.4001G>A (p.Arg1334Lys) c.2033G>A (p.Arg678Lys) c.689G>A (p.Arg230Lys) c.4048G>A c.5090G>A (p.Arg1697Lys) c.4544G>A (p.Arg1515Lys) c.4307-4104G>A (n.4307-4104G>A) n.253-4104G>A n.40-4104G>A c.777G>A c.4817G>A (p.Arg1606Lys) c.4034-4104G>A (n.4034-4104G>A) c.3452G>A (p.Arg1151Lys) c.5366G>A (p.Arg1789Lys) c.3488-4104G>A (n.3488-4104G>A) c.5093G>A (p.Arg1698Lys) c.4547G>A (p.Arg1516Lys) c.4580-4104G>A (n.4580-4104G>A) c.4274G>A (p.Arg1425Lys) c.3761-4104G>A (n.3761-4104G>A) c.3725G>A (p.Arg1242Lys) c.5639G>A (p.Arg1880Lys) c.5363G>A (p.Arg1788Lys) | |
9 | g.115046446T>A | CA374630616 | TNC | c.318-4105A>T c.3215-4105A>T (n.3215-4105A>T) c.4000A>T (p.Arg1334Trp) c.2032A>T (p.Arg678Trp) c.688A>T (p.Arg230Trp) c.4047A>T c.5089A>T (p.Arg1697Trp) c.4543A>T (p.Arg1515Trp) c.4307-4105A>T (n.4307-4105A>T) n.253-4105A>T n.40-4105A>T c.776A>T c.4816A>T (p.Arg1606Trp) c.4034-4105A>T (n.4034-4105A>T) c.3451A>T (p.Arg1151Trp) c.5365A>T (p.Arg1789Trp) c.3488-4105A>T (n.3488-4105A>T) c.5092A>T (p.Arg1698Trp) c.4546A>T (p.Arg1516Trp) c.4580-4105A>T (n.4580-4105A>T) c.4273A>T (p.Arg1425Trp) c.3761-4105A>T (n.3761-4105A>T) c.3724A>T (p.Arg1242Trp) c.5638A>T (p.Arg1880Trp) c.5362A>T (p.Arg1788Trp) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.115046446T>C | CA374630618 | TNC | c.318-4105A>G c.3215-4105A>G (n.3215-4105A>G) c.4000A>G (p.Arg1334Gly) c.2032A>G (p.Arg678Gly) c.688A>G (p.Arg230Gly) c.4047A>G c.5089A>G (p.Arg1697Gly) c.4543A>G (p.Arg1515Gly) c.4307-4105A>G (n.4307-4105A>G) n.253-4105A>G n.40-4105A>G c.776A>G c.4816A>G (p.Arg1606Gly) c.4034-4105A>G (n.4034-4105A>G) c.3451A>G (p.Arg1151Gly) c.5365A>G (p.Arg1789Gly) c.3488-4105A>G (n.3488-4105A>G) c.5092A>G (p.Arg1698Gly) c.4546A>G (p.Arg1516Gly) c.4580-4105A>G (n.4580-4105A>G) c.4273A>G (p.Arg1425Gly) c.3761-4105A>G (n.3761-4105A>G) c.3724A>G (p.Arg1242Gly) c.5638A>G (p.Arg1880Gly) c.5362A>G (p.Arg1788Gly) | gnomAD v4 |
9 | g.115046446T>G | CA466912345 | TNC | c.318-4105A>C c.3215-4105A>C (n.3215-4105A>C) c.4000A>C (p.Arg1334=) c.2032A>C (p.Arg678=) c.688A>C (p.Arg230=) c.4047A>C c.5089A>C (p.Arg1697=) c.4543A>C (p.Arg1515=) c.4307-4105A>C (n.4307-4105A>C) n.253-4105A>C n.40-4105A>C c.776A>C c.4816A>C (p.Arg1606=) c.4034-4105A>C (n.4034-4105A>C) c.3451A>C (p.Arg1151=) c.5365A>C (p.Arg1789=) c.3488-4105A>C (n.3488-4105A>C) c.5092A>C (p.Arg1698=) c.4546A>C (p.Arg1516=) c.4580-4105A>C (n.4580-4105A>C) c.4273A>C (p.Arg1425=) c.3761-4105A>C (n.3761-4105A>C) c.3724A>C (p.Arg1242=) c.5638A>C (p.Arg1880=) c.5362A>C (p.Arg1788=) | |
9 | g.115046446T= | CA1874118872 | TNC | c.318-4105A= c.3215-4105A= (n.3215-4105A=) c.4000A= (p.Arg1334=) c.2032A= (p.Arg678=) c.688A= (p.Arg230=) c.4047A= c.5089A= (p.Arg1697=) c.4543A= (p.Arg1515=) c.4307-4105A= (n.4307-4105A=) n.253-4105A= n.40-4105A= c.776A= c.4816A= (p.Arg1606=) c.4034-4105A= (n.4034-4105A=) c.3451A= (p.Arg1151=) c.5365A= (p.Arg1789=) c.3488-4105A= (n.3488-4105A=) c.5092A= (p.Arg1698=) c.4546A= (p.Arg1516=) c.4580-4105A= (n.4580-4105A=) c.4273A= (p.Arg1425=) c.3761-4105A= (n.3761-4105A=) c.3724A= (p.Arg1242=) c.5638A= (p.Arg1880=) c.5362A= (p.Arg1788=) | |
9 | g.115046447T>A | CA466912347 | TNC | c.318-4106A>T c.3215-4106A>T (n.3215-4106A>T) c.3999A>T (p.Gly1333=) c.2031A>T (p.Gly677=) c.687A>T (p.Gly229=) c.4046A>T c.5088A>T (p.Gly1696=) c.4542A>T (p.Gly1514=) c.4307-4106A>T (n.4307-4106A>T) n.253-4106A>T n.40-4106A>T c.775A>T c.4815A>T (p.Gly1605=) c.4034-4106A>T (n.4034-4106A>T) c.3450A>T (p.Gly1150=) c.5364A>T (p.Gly1788=) c.3488-4106A>T (n.3488-4106A>T) c.5091A>T (p.Gly1697=) c.4545A>T (p.Gly1515=) c.4580-4106A>T (n.4580-4106A>T) c.4272A>T (p.Gly1424=) c.3761-4106A>T (n.3761-4106A>T) c.3723A>T (p.Gly1241=) c.5637A>T (p.Gly1879=) c.5361A>T (p.Gly1787=) | |
9 | g.115046447T>C | CA466912348 | TNC | c.318-4106A>G c.3215-4106A>G (n.3215-4106A>G) c.3999A>G (p.Gly1333=) c.2031A>G (p.Gly677=) c.687A>G (p.Gly229=) c.4046A>G c.5088A>G (p.Gly1696=) c.4542A>G (p.Gly1514=) c.4307-4106A>G (n.4307-4106A>G) n.253-4106A>G n.40-4106A>G c.775A>G c.4815A>G (p.Gly1605=) c.4034-4106A>G (n.4034-4106A>G) c.3450A>G (p.Gly1150=) c.5364A>G (p.Gly1788=) c.3488-4106A>G (n.3488-4106A>G) c.5091A>G (p.Gly1697=) c.4545A>G (p.Gly1515=) c.4580-4106A>G (n.4580-4106A>G) c.4272A>G (p.Gly1424=) c.3761-4106A>G (n.3761-4106A>G) c.3723A>G (p.Gly1241=) c.5637A>G (p.Gly1879=) c.5361A>G (p.Gly1787=) | |
9 | g.115046447T>G | CA466912349 | TNC | c.318-4106A>C c.3215-4106A>C (n.3215-4106A>C) c.3999A>C (p.Gly1333=) c.2031A>C (p.Gly677=) c.687A>C (p.Gly229=) c.4046A>C c.5088A>C (p.Gly1696=) c.4542A>C (p.Gly1514=) c.4307-4106A>C (n.4307-4106A>C) n.253-4106A>C n.40-4106A>C c.775A>C c.4815A>C (p.Gly1605=) c.4034-4106A>C (n.4034-4106A>C) c.3450A>C (p.Gly1150=) c.5364A>C (p.Gly1788=) c.3488-4106A>C (n.3488-4106A>C) c.5091A>C (p.Gly1697=) c.4545A>C (p.Gly1515=) c.4580-4106A>C (n.4580-4106A>C) c.4272A>C (p.Gly1424=) c.3761-4106A>C (n.3761-4106A>C) c.3723A>C (p.Gly1241=) c.5637A>C (p.Gly1879=) c.5361A>C (p.Gly1787=) | |
9 | g.115046448C>A | CA374630623 | TNC | c.318-4107G>T c.3215-4107G>T (n.3215-4107G>T) c.3998G>T (p.Gly1333Val) c.2030G>T (p.Gly677Val) c.686G>T (p.Gly229Val) c.4045G>T c.5087G>T (p.Gly1696Val) c.4541G>T (p.Gly1514Val) c.4307-4107G>T (n.4307-4107G>T) n.253-4107G>T n.40-4107G>T c.774G>T c.4814G>T (p.Gly1605Val) c.4034-4107G>T (n.4034-4107G>T) c.3449G>T (p.Gly1150Val) c.5363G>T (p.Gly1788Val) c.3488-4107G>T (n.3488-4107G>T) c.5090G>T (p.Gly1697Val) c.4544G>T (p.Gly1515Val) c.4580-4107G>T (n.4580-4107G>T) c.4271G>T (p.Gly1424Val) c.3761-4107G>T (n.3761-4107G>T) c.3722G>T (p.Gly1241Val) c.5636G>T (p.Gly1879Val) c.5360G>T (p.Gly1787Val) | |
9 | g.115046448C>G | CA374630621 | TNC | c.318-4107G>C c.3215-4107G>C (n.3215-4107G>C) c.3998G>C (p.Gly1333Ala) c.2030G>C (p.Gly677Ala) c.686G>C (p.Gly229Ala) c.4045G>C c.5087G>C (p.Gly1696Ala) c.4541G>C (p.Gly1514Ala) c.4307-4107G>C (n.4307-4107G>C) n.253-4107G>C n.40-4107G>C c.774G>C c.4814G>C (p.Gly1605Ala) c.4034-4107G>C (n.4034-4107G>C) c.3449G>C (p.Gly1150Ala) c.5363G>C (p.Gly1788Ala) c.3488-4107G>C (n.3488-4107G>C) c.5090G>C (p.Gly1697Ala) c.4544G>C (p.Gly1515Ala) c.4580-4107G>C (n.4580-4107G>C) c.4271G>C (p.Gly1424Ala) c.3761-4107G>C (n.3761-4107G>C) c.3722G>C (p.Gly1241Ala) c.5636G>C (p.Gly1879Ala) c.5360G>C (p.Gly1787Ala) | |
9 | g.115046448C>T | CA374630620 | TNC | c.318-4107G>A c.3215-4107G>A (n.3215-4107G>A) c.3998G>A (p.Gly1333Glu) c.2030G>A (p.Gly677Glu) c.686G>A (p.Gly229Glu) c.4045G>A c.5087G>A (p.Gly1696Glu) c.4541G>A (p.Gly1514Glu) c.4307-4107G>A (n.4307-4107G>A) n.253-4107G>A n.40-4107G>A c.774G>A c.4814G>A (p.Gly1605Glu) c.4034-4107G>A (n.4034-4107G>A) c.3449G>A (p.Gly1150Glu) c.5363G>A (p.Gly1788Glu) c.3488-4107G>A (n.3488-4107G>A) c.5090G>A (p.Gly1697Glu) c.4544G>A (p.Gly1515Glu) c.4580-4107G>A (n.4580-4107G>A) c.4271G>A (p.Gly1424Glu) c.3761-4107G>A (n.3761-4107G>A) c.3722G>A (p.Gly1241Glu) c.5636G>A (p.Gly1879Glu) c.5360G>A (p.Gly1787Glu) | gnomAD v4 COSMIC |
9 | g.115046449C>A | CA374630628 | TNC | c.318-4108G>T c.3215-4108G>T (n.3215-4108G>T) c.3997G>T (p.Gly1333Ter) c.2029G>T (p.Gly677Ter) c.685G>T (p.Gly229Ter) c.4044G>T c.5086G>T (p.Gly1696Ter) c.4540G>T (p.Gly1514Ter) c.4307-4108G>T (n.4307-4108G>T) n.253-4108G>T n.40-4108G>T c.773G>T c.4813G>T (p.Gly1605Ter) c.4034-4108G>T (n.4034-4108G>T) c.3448G>T (p.Gly1150Ter) c.5362G>T (p.Gly1788Ter) c.3488-4108G>T (n.3488-4108G>T) c.5089G>T (p.Gly1697Ter) c.4543G>T (p.Gly1515Ter) c.4580-4108G>T (n.4580-4108G>T) c.4270G>T (p.Gly1424Ter) c.3761-4108G>T (n.3761-4108G>T) c.3721G>T (p.Gly1241Ter) c.5635G>T (p.Gly1879Ter) c.5359G>T (p.Gly1787Ter) | |
9 | g.115046449C= | CA1874118873 | TNC | c.318-4108G= c.3215-4108G= (n.3215-4108G=) c.3997G= (p.Gly1333=) c.2029G= (p.Gly677=) c.685G= (p.Gly229=) c.4044G= c.5086G= (p.Gly1696=) c.4540G= (p.Gly1514=) c.4307-4108G= (n.4307-4108G=) n.253-4108G= n.40-4108G= c.773G= c.4813G= (p.Gly1605=) c.4034-4108G= (n.4034-4108G=) c.3448G= (p.Gly1150=) c.5362G= (p.Gly1788=) c.3488-4108G= (n.3488-4108G=) c.5089G= (p.Gly1697=) c.4543G= (p.Gly1515=) c.4580-4108G= (n.4580-4108G=) c.4270G= (p.Gly1424=) c.3761-4108G= (n.3761-4108G=) c.3721G= (p.Gly1241=) c.5635G= (p.Gly1879=) c.5359G= (p.Gly1787=) | |
9 | g.115046449C>G | CA374630625 | TNC | c.318-4108G>C c.3215-4108G>C (n.3215-4108G>C) c.3997G>C (p.Gly1333Arg) c.2029G>C (p.Gly677Arg) c.685G>C (p.Gly229Arg) c.4044G>C c.5086G>C (p.Gly1696Arg) c.4540G>C (p.Gly1514Arg) c.4307-4108G>C (n.4307-4108G>C) n.253-4108G>C n.40-4108G>C c.773G>C c.4813G>C (p.Gly1605Arg) c.4034-4108G>C (n.4034-4108G>C) c.3448G>C (p.Gly1150Arg) c.5362G>C (p.Gly1788Arg) c.3488-4108G>C (n.3488-4108G>C) c.5089G>C (p.Gly1697Arg) c.4543G>C (p.Gly1515Arg) c.4580-4108G>C (n.4580-4108G>C) c.4270G>C (p.Gly1424Arg) c.3761-4108G>C (n.3761-4108G>C) c.3721G>C (p.Gly1241Arg) c.5635G>C (p.Gly1879Arg) c.5359G>C (p.Gly1787Arg) | |
9 | g.115046449C>T | CA5207760 | TNC | c.318-4108G>A c.3215-4108G>A (n.3215-4108G>A) c.3997G>A (p.Gly1333Arg) c.2029G>A (p.Gly677Arg) c.685G>A (p.Gly229Arg) c.4044G>A c.5086G>A (p.Gly1696Arg) c.4540G>A (p.Gly1514Arg) c.4307-4108G>A (n.4307-4108G>A) n.253-4108G>A n.40-4108G>A c.773G>A c.4813G>A (p.Gly1605Arg) c.4034-4108G>A (n.4034-4108G>A) c.3448G>A (p.Gly1150Arg) c.5362G>A (p.Gly1788Arg) c.3488-4108G>A (n.3488-4108G>A) c.5089G>A (p.Gly1697Arg) c.4543G>A (p.Gly1515Arg) c.4580-4108G>A (n.4580-4108G>A) c.4270G>A (p.Gly1424Arg) c.3761-4108G>A (n.3761-4108G>A) c.3721G>A (p.Gly1241Arg) c.5635G>A (p.Gly1879Arg) c.5359G>A (p.Gly1787Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046450T>A | CA374630630 | TNC | c.318-4109A>T c.3215-4109A>T (n.3215-4109A>T) c.3996A>T (p.Lys1332Asn) c.2028A>T (p.Lys676Asn) c.684A>T (p.Lys228Asn) c.4043A>T c.5085A>T (p.Lys1695Asn) c.4539A>T (p.Lys1513Asn) c.4307-4109A>T (n.4307-4109A>T) n.253-4109A>T n.40-4109A>T c.772A>T c.4812A>T (p.Lys1604Asn) c.4034-4109A>T (n.4034-4109A>T) c.3447A>T (p.Lys1149Asn) c.5361A>T (p.Lys1787Asn) c.3488-4109A>T (n.3488-4109A>T) c.5088A>T (p.Lys1696Asn) c.4542A>T (p.Lys1514Asn) c.4580-4109A>T (n.4580-4109A>T) c.4269A>T (p.Lys1423Asn) c.3761-4109A>T (n.3761-4109A>T) c.3720A>T (p.Lys1240Asn) c.5634A>T (p.Lys1878Asn) c.5358A>T (p.Lys1786Asn) | |
9 | g.115046450T>C | CA466912351 | TNC | c.318-4109A>G c.3215-4109A>G (n.3215-4109A>G) c.3996A>G (p.Lys1332=) c.2028A>G (p.Lys676=) c.684A>G (p.Lys228=) c.4043A>G c.5085A>G (p.Lys1695=) c.4539A>G (p.Lys1513=) c.4307-4109A>G (n.4307-4109A>G) n.253-4109A>G n.40-4109A>G c.772A>G c.4812A>G (p.Lys1604=) c.4034-4109A>G (n.4034-4109A>G) c.3447A>G (p.Lys1149=) c.5361A>G (p.Lys1787=) c.3488-4109A>G (n.3488-4109A>G) c.5088A>G (p.Lys1696=) c.4542A>G (p.Lys1514=) c.4580-4109A>G (n.4580-4109A>G) c.4269A>G (p.Lys1423=) c.3761-4109A>G (n.3761-4109A>G) c.3720A>G (p.Lys1240=) c.5634A>G (p.Lys1878=) c.5358A>G (p.Lys1786=) | |
9 | g.115046450T>G | CA374630632 | TNC | c.318-4109A>C c.3215-4109A>C (n.3215-4109A>C) c.3996A>C (p.Lys1332Asn) c.2028A>C (p.Lys676Asn) c.684A>C (p.Lys228Asn) c.4043A>C c.5085A>C (p.Lys1695Asn) c.4539A>C (p.Lys1513Asn) c.4307-4109A>C (n.4307-4109A>C) n.253-4109A>C n.40-4109A>C c.772A>C c.4812A>C (p.Lys1604Asn) c.4034-4109A>C (n.4034-4109A>C) c.3447A>C (p.Lys1149Asn) c.5361A>C (p.Lys1787Asn) c.3488-4109A>C (n.3488-4109A>C) c.5088A>C (p.Lys1696Asn) c.4542A>C (p.Lys1514Asn) c.4580-4109A>C (n.4580-4109A>C) c.4269A>C (p.Lys1423Asn) c.3761-4109A>C (n.3761-4109A>C) c.3720A>C (p.Lys1240Asn) c.5634A>C (p.Lys1878Asn) c.5358A>C (p.Lys1786Asn) | |
9 | g.115046451T>A | CA374630634 | TNC | c.318-4110A>T c.3215-4110A>T (n.3215-4110A>T) c.3995A>T (p.Lys1332Ile) c.2027A>T (p.Lys676Ile) c.683A>T (p.Lys228Ile) c.4042A>T c.5084A>T (p.Lys1695Ile) c.4538A>T (p.Lys1513Ile) c.4307-4110A>T (n.4307-4110A>T) n.253-4110A>T n.40-4110A>T c.771A>T c.4811A>T (p.Lys1604Ile) c.4034-4110A>T (n.4034-4110A>T) c.3446A>T (p.Lys1149Ile) c.5360A>T (p.Lys1787Ile) c.3488-4110A>T (n.3488-4110A>T) c.5087A>T (p.Lys1696Ile) c.4541A>T (p.Lys1514Ile) c.4580-4110A>T (n.4580-4110A>T) c.4268A>T (p.Lys1423Ile) c.3761-4110A>T (n.3761-4110A>T) c.3719A>T (p.Lys1240Ile) c.5633A>T (p.Lys1878Ile) c.5357A>T (p.Lys1786Ile) | |
9 | g.115046451T>C | CA374630636 | TNC | c.318-4110A>G c.3215-4110A>G (n.3215-4110A>G) c.3995A>G (p.Lys1332Arg) c.2027A>G (p.Lys676Arg) c.683A>G (p.Lys228Arg) c.4042A>G c.5084A>G (p.Lys1695Arg) c.4538A>G (p.Lys1513Arg) c.4307-4110A>G (n.4307-4110A>G) n.253-4110A>G n.40-4110A>G c.771A>G c.4811A>G (p.Lys1604Arg) c.4034-4110A>G (n.4034-4110A>G) c.3446A>G (p.Lys1149Arg) c.5360A>G (p.Lys1787Arg) c.3488-4110A>G (n.3488-4110A>G) c.5087A>G (p.Lys1696Arg) c.4541A>G (p.Lys1514Arg) c.4580-4110A>G (n.4580-4110A>G) c.4268A>G (p.Lys1423Arg) c.3761-4110A>G (n.3761-4110A>G) c.3719A>G (p.Lys1240Arg) c.5633A>G (p.Lys1878Arg) c.5357A>G (p.Lys1786Arg) | |
9 | g.115046451T>G | CA374630638 | TNC | c.318-4110A>C c.3215-4110A>C (n.3215-4110A>C) c.3995A>C (p.Lys1332Thr) c.2027A>C (p.Lys676Thr) c.683A>C (p.Lys228Thr) c.4042A>C c.5084A>C (p.Lys1695Thr) c.4538A>C (p.Lys1513Thr) c.4307-4110A>C (n.4307-4110A>C) n.253-4110A>C n.40-4110A>C c.771A>C c.4811A>C (p.Lys1604Thr) c.4034-4110A>C (n.4034-4110A>C) c.3446A>C (p.Lys1149Thr) c.5360A>C (p.Lys1787Thr) c.3488-4110A>C (n.3488-4110A>C) c.5087A>C (p.Lys1696Thr) c.4541A>C (p.Lys1514Thr) c.4580-4110A>C (n.4580-4110A>C) c.4268A>C (p.Lys1423Thr) c.3761-4110A>C (n.3761-4110A>C) c.3719A>C (p.Lys1240Thr) c.5633A>C (p.Lys1878Thr) c.5357A>C (p.Lys1786Thr) | |
9 | g.115046452T>A | CA374630640 | TNC | c.318-4111A>T c.3215-4111A>T (n.3215-4111A>T) c.3994A>T (p.Lys1332Ter) c.2026A>T (p.Lys676Ter) c.682A>T (p.Lys228Ter) c.4041A>T c.5083A>T (p.Lys1695Ter) c.4537A>T (p.Lys1513Ter) c.4307-4111A>T (n.4307-4111A>T) n.253-4111A>T n.40-4111A>T c.770A>T c.4810A>T (p.Lys1604Ter) c.4034-4111A>T (n.4034-4111A>T) c.3445A>T (p.Lys1149Ter) c.5359A>T (p.Lys1787Ter) c.3488-4111A>T (n.3488-4111A>T) c.5086A>T (p.Lys1696Ter) c.4540A>T (p.Lys1514Ter) c.4580-4111A>T (n.4580-4111A>T) c.4267A>T (p.Lys1423Ter) c.3761-4111A>T (n.3761-4111A>T) c.3718A>T (p.Lys1240Ter) c.5632A>T (p.Lys1878Ter) c.5356A>T (p.Lys1786Ter) | |
9 | g.115046452T>C | CA374630642 | TNC | c.318-4111A>G c.3215-4111A>G (n.3215-4111A>G) c.3994A>G (p.Lys1332Glu) c.2026A>G (p.Lys676Glu) c.682A>G (p.Lys228Glu) c.4041A>G c.5083A>G (p.Lys1695Glu) c.4537A>G (p.Lys1513Glu) c.4307-4111A>G (n.4307-4111A>G) n.253-4111A>G n.40-4111A>G c.770A>G c.4810A>G (p.Lys1604Glu) c.4034-4111A>G (n.4034-4111A>G) c.3445A>G (p.Lys1149Glu) c.5359A>G (p.Lys1787Glu) c.3488-4111A>G (n.3488-4111A>G) c.5086A>G (p.Lys1696Glu) c.4540A>G (p.Lys1514Glu) c.4580-4111A>G (n.4580-4111A>G) c.4267A>G (p.Lys1423Glu) c.3761-4111A>G (n.3761-4111A>G) c.3718A>G (p.Lys1240Glu) c.5632A>G (p.Lys1878Glu) c.5356A>G (p.Lys1786Glu) | |
9 | g.115046452T>G | CA374630644 | TNC | c.318-4111A>C c.3215-4111A>C (n.3215-4111A>C) c.3994A>C (p.Lys1332Gln) c.2026A>C (p.Lys676Gln) c.682A>C (p.Lys228Gln) c.4041A>C c.5083A>C (p.Lys1695Gln) c.4537A>C (p.Lys1513Gln) c.4307-4111A>C (n.4307-4111A>C) n.253-4111A>C n.40-4111A>C c.770A>C c.4810A>C (p.Lys1604Gln) c.4034-4111A>C (n.4034-4111A>C) c.3445A>C (p.Lys1149Gln) c.5359A>C (p.Lys1787Gln) c.3488-4111A>C (n.3488-4111A>C) c.5086A>C (p.Lys1696Gln) c.4540A>C (p.Lys1514Gln) c.4580-4111A>C (n.4580-4111A>C) c.4267A>C (p.Lys1423Gln) c.3761-4111A>C (n.3761-4111A>C) c.3718A>C (p.Lys1240Gln) c.5632A>C (p.Lys1878Gln) c.5356A>C (p.Lys1786Gln) | |
9 | g.115046453G>A | CA466912352 | TNC | c.318-4112C>T c.3215-4112C>T (n.3215-4112C>T) c.3993C>T (p.Ser1331=) c.2025C>T (p.Ser675=) c.681C>T (p.Ser227=) c.4040C>T c.5082C>T (p.Ser1694=) c.4536C>T (p.Ser1512=) c.4307-4112C>T (n.4307-4112C>T) n.253-4112C>T n.40-4112C>T c.769C>T c.4809C>T (p.Ser1603=) c.4034-4112C>T (n.4034-4112C>T) c.3444C>T (p.Ser1148=) c.5358C>T (p.Ser1786=) c.3488-4112C>T (n.3488-4112C>T) c.5085C>T (p.Ser1695=) c.4539C>T (p.Ser1513=) c.4580-4112C>T (n.4580-4112C>T) c.4266C>T (p.Ser1422=) c.3761-4112C>T (n.3761-4112C>T) c.3717C>T (p.Ser1239=) c.5631C>T (p.Ser1877=) c.5355C>T (p.Ser1785=) | |
9 | g.115046453G>C | CA5207761 | TNC | c.318-4112C>G c.3215-4112C>G (n.3215-4112C>G) c.3993C>G (p.Ser1331Arg) c.2025C>G (p.Ser675Arg) c.681C>G (p.Ser227Arg) c.4040C>G c.5082C>G (p.Ser1694Arg) c.4536C>G (p.Ser1512Arg) c.4307-4112C>G (n.4307-4112C>G) n.253-4112C>G n.40-4112C>G c.769C>G c.4809C>G (p.Ser1603Arg) c.4034-4112C>G (n.4034-4112C>G) c.3444C>G (p.Ser1148Arg) c.5358C>G (p.Ser1786Arg) c.3488-4112C>G (n.3488-4112C>G) c.5085C>G (p.Ser1695Arg) c.4539C>G (p.Ser1513Arg) c.4580-4112C>G (n.4580-4112C>G) c.4266C>G (p.Ser1422Arg) c.3761-4112C>G (n.3761-4112C>G) c.3717C>G (p.Ser1239Arg) c.5631C>G (p.Ser1877Arg) c.5355C>G (p.Ser1785Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.115046453G= | CA1874118874 | TNC | c.318-4112C= c.3215-4112C= (n.3215-4112C=) c.3993C= (p.Ser1331=) c.2025C= (p.Ser675=) c.681C= (p.Ser227=) c.4040C= c.5082C= (p.Ser1694=) c.4536C= (p.Ser1512=) c.4307-4112C= (n.4307-4112C=) n.253-4112C= n.40-4112C= c.769C= c.4809C= (p.Ser1603=) c.4034-4112C= (n.4034-4112C=) c.3444C= (p.Ser1148=) c.5358C= (p.Ser1786=) c.3488-4112C= (n.3488-4112C=) c.5085C= (p.Ser1695=) c.4539C= (p.Ser1513=) c.4580-4112C= (n.4580-4112C=) c.4266C= (p.Ser1422=) c.3761-4112C= (n.3761-4112C=) c.3717C= (p.Ser1239=) c.5631C= (p.Ser1877=) c.5355C= (p.Ser1785=) | |
9 | g.115046453G>T | CA374630646 | TNC | c.318-4112C>A c.3215-4112C>A (n.3215-4112C>A) c.3993C>A (p.Ser1331Arg) c.2025C>A (p.Ser675Arg) c.681C>A (p.Ser227Arg) c.4040C>A c.5082C>A (p.Ser1694Arg) c.4536C>A (p.Ser1512Arg) c.4307-4112C>A (n.4307-4112C>A) n.253-4112C>A n.40-4112C>A c.769C>A c.4809C>A (p.Ser1603Arg) c.4034-4112C>A (n.4034-4112C>A) c.3444C>A (p.Ser1148Arg) c.5358C>A (p.Ser1786Arg) c.3488-4112C>A (n.3488-4112C>A) c.5085C>A (p.Ser1695Arg) c.4539C>A (p.Ser1513Arg) c.4580-4112C>A (n.4580-4112C>A) c.4266C>A (p.Ser1422Arg) c.3761-4112C>A (n.3761-4112C>A) c.3717C>A (p.Ser1239Arg) c.5631C>A (p.Ser1877Arg) c.5355C>A (p.Ser1785Arg) | |
9 | g.115046454C>A | CA374630650 | TNC | c.318-4113G>T c.3215-4113G>T (n.3215-4113G>T) c.3992G>T (p.Ser1331Ile) c.2024G>T (p.Ser675Ile) c.680G>T (p.Ser227Ile) c.4039G>T c.5081G>T (p.Ser1694Ile) c.4535G>T (p.Ser1512Ile) c.4307-4113G>T (n.4307-4113G>T) n.253-4113G>T n.40-4113G>T c.768G>T c.4808G>T (p.Ser1603Ile) c.4034-4113G>T (n.4034-4113G>T) c.3443G>T (p.Ser1148Ile) c.5357G>T (p.Ser1786Ile) c.3488-4113G>T (n.3488-4113G>T) c.5084G>T (p.Ser1695Ile) c.4538G>T (p.Ser1513Ile) c.4580-4113G>T (n.4580-4113G>T) c.4265G>T (p.Ser1422Ile) c.3761-4113G>T (n.3761-4113G>T) c.3716G>T (p.Ser1239Ile) c.5630G>T (p.Ser1877Ile) c.5354G>T (p.Ser1785Ile) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.115046454C= | CA1874118875 | TNC | c.318-4113G= c.3215-4113G= (n.3215-4113G=) c.3992G= (p.Ser1331=) c.2024G= (p.Ser675=) c.680G= (p.Ser227=) c.4039G= c.5081G= (p.Ser1694=) c.4535G= (p.Ser1512=) c.4307-4113G= (n.4307-4113G=) n.253-4113G= n.40-4113G= c.768G= c.4808G= (p.Ser1603=) c.4034-4113G= (n.4034-4113G=) c.3443G= (p.Ser1148=) c.5357G= (p.Ser1786=) c.3488-4113G= (n.3488-4113G=) c.5084G= (p.Ser1695=) c.4538G= (p.Ser1513=) c.4580-4113G= (n.4580-4113G=) c.4265G= (p.Ser1422=) c.3761-4113G= (n.3761-4113G=) c.3716G= (p.Ser1239=) c.5630G= (p.Ser1877=) c.5354G= (p.Ser1785=) | |
9 | g.115046454C>G | CA374630648 | TNC | c.318-4113G>C c.3215-4113G>C (n.3215-4113G>C) c.3992G>C (p.Ser1331Thr) c.2024G>C (p.Ser675Thr) c.680G>C (p.Ser227Thr) c.4039G>C c.5081G>C (p.Ser1694Thr) c.4535G>C (p.Ser1512Thr) c.4307-4113G>C (n.4307-4113G>C) n.253-4113G>C n.40-4113G>C c.768G>C c.4808G>C (p.Ser1603Thr) c.4034-4113G>C (n.4034-4113G>C) c.3443G>C (p.Ser1148Thr) c.5357G>C (p.Ser1786Thr) c.3488-4113G>C (n.3488-4113G>C) c.5084G>C (p.Ser1695Thr) c.4538G>C (p.Ser1513Thr) c.4580-4113G>C (n.4580-4113G>C) c.4265G>C (p.Ser1422Thr) c.3761-4113G>C (n.3761-4113G>C) c.3716G>C (p.Ser1239Thr) c.5630G>C (p.Ser1877Thr) c.5354G>C (p.Ser1785Thr) | |
9 | g.115046454C>T | CA5207762 | TNC | c.318-4113G>A c.3215-4113G>A (n.3215-4113G>A) c.3992G>A (p.Ser1331Asn) c.2024G>A (p.Ser675Asn) c.680G>A (p.Ser227Asn) c.4039G>A c.5081G>A (p.Ser1694Asn) c.4535G>A (p.Ser1512Asn) c.4307-4113G>A (n.4307-4113G>A) n.253-4113G>A n.40-4113G>A c.768G>A c.4808G>A (p.Ser1603Asn) c.4034-4113G>A (n.4034-4113G>A) c.3443G>A (p.Ser1148Asn) c.5357G>A (p.Ser1786Asn) c.3488-4113G>A (n.3488-4113G>A) c.5084G>A (p.Ser1695Asn) c.4538G>A (p.Ser1513Asn) c.4580-4113G>A (n.4580-4113G>A) c.4265G>A (p.Ser1422Asn) c.3761-4113G>A (n.3761-4113G>A) c.3716G>A (p.Ser1239Asn) c.5630G>A (p.Ser1877Asn) c.5354G>A (p.Ser1785Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046455T>A | CA374630652 | TNC | c.318-4114A>T c.3215-4114A>T (n.3215-4114A>T) c.3991A>T (p.Ser1331Cys) c.2023A>T (p.Ser675Cys) c.679A>T (p.Ser227Cys) c.4038A>T c.5080A>T (p.Ser1694Cys) c.4534A>T (p.Ser1512Cys) c.4307-4114A>T (n.4307-4114A>T) n.253-4114A>T n.40-4114A>T c.767A>T c.4807A>T (p.Ser1603Cys) c.4034-4114A>T (n.4034-4114A>T) c.3442A>T (p.Ser1148Cys) c.5356A>T (p.Ser1786Cys) c.3488-4114A>T (n.3488-4114A>T) c.5083A>T (p.Ser1695Cys) c.4537A>T (p.Ser1513Cys) c.4580-4114A>T (n.4580-4114A>T) c.4264A>T (p.Ser1422Cys) c.3761-4114A>T (n.3761-4114A>T) c.3715A>T (p.Ser1239Cys) c.5629A>T (p.Ser1877Cys) c.5353A>T (p.Ser1785Cys) | |
9 | g.115046455T>C | CA374630654 | TNC | c.318-4114A>G c.3215-4114A>G (n.3215-4114A>G) c.3991A>G (p.Ser1331Gly) c.2023A>G (p.Ser675Gly) c.679A>G (p.Ser227Gly) c.4038A>G c.5080A>G (p.Ser1694Gly) c.4534A>G (p.Ser1512Gly) c.4307-4114A>G (n.4307-4114A>G) n.253-4114A>G n.40-4114A>G c.767A>G c.4807A>G (p.Ser1603Gly) c.4034-4114A>G (n.4034-4114A>G) c.3442A>G (p.Ser1148Gly) c.5356A>G (p.Ser1786Gly) c.3488-4114A>G (n.3488-4114A>G) c.5083A>G (p.Ser1695Gly) c.4537A>G (p.Ser1513Gly) c.4580-4114A>G (n.4580-4114A>G) c.4264A>G (p.Ser1422Gly) c.3761-4114A>G (n.3761-4114A>G) c.3715A>G (p.Ser1239Gly) c.5629A>G (p.Ser1877Gly) c.5353A>G (p.Ser1785Gly) | |
9 | g.115046455T>G | CA374630656 | TNC | c.318-4114A>C c.3215-4114A>C (n.3215-4114A>C) c.3991A>C (p.Ser1331Arg) c.2023A>C (p.Ser675Arg) c.679A>C (p.Ser227Arg) c.4038A>C c.5080A>C (p.Ser1694Arg) c.4534A>C (p.Ser1512Arg) c.4307-4114A>C (n.4307-4114A>C) n.253-4114A>C n.40-4114A>C c.767A>C c.4807A>C (p.Ser1603Arg) c.4034-4114A>C (n.4034-4114A>C) c.3442A>C (p.Ser1148Arg) c.5356A>C (p.Ser1786Arg) c.3488-4114A>C (n.3488-4114A>C) c.5083A>C (p.Ser1695Arg) c.4537A>C (p.Ser1513Arg) c.4580-4114A>C (n.4580-4114A>C) c.4264A>C (p.Ser1422Arg) c.3761-4114A>C (n.3761-4114A>C) c.3715A>C (p.Ser1239Arg) c.5629A>C (p.Ser1877Arg) c.5353A>C (p.Ser1785Arg) | |
9 | g.115046456T>A | CA466912355 | TNC | c.318-4115A>T c.3215-4115A>T (n.3215-4115A>T) c.3990A>T (p.Ile1330=) c.2022A>T (p.Ile674=) c.678A>T (p.Ile226=) c.4037A>T c.5079A>T (p.Ile1693=) c.4533A>T (p.Ile1511=) c.4307-4115A>T (n.4307-4115A>T) n.253-4115A>T n.40-4115A>T c.766A>T c.4806A>T (p.Ile1602=) c.4034-4115A>T (n.4034-4115A>T) c.3441A>T (p.Ile1147=) c.5355A>T (p.Ile1785=) c.3488-4115A>T (n.3488-4115A>T) c.5082A>T (p.Ile1694=) c.4536A>T (p.Ile1512=) c.4580-4115A>T (n.4580-4115A>T) c.4263A>T (p.Ile1421=) c.3761-4115A>T (n.3761-4115A>T) c.3714A>T (p.Ile1238=) c.5628A>T (p.Ile1876=) c.5352A>T (p.Ile1784=) | |
9 | g.115046456T>C | CA374630658 | TNC | c.318-4115A>G c.3215-4115A>G (n.3215-4115A>G) c.3990A>G (p.Ile1330Met) c.2022A>G (p.Ile674Met) c.678A>G (p.Ile226Met) c.4037A>G c.5079A>G (p.Ile1693Met) c.4533A>G (p.Ile1511Met) c.4307-4115A>G (n.4307-4115A>G) n.253-4115A>G n.40-4115A>G c.766A>G c.4806A>G (p.Ile1602Met) c.4034-4115A>G (n.4034-4115A>G) c.3441A>G (p.Ile1147Met) c.5355A>G (p.Ile1785Met) c.3488-4115A>G (n.3488-4115A>G) c.5082A>G (p.Ile1694Met) c.4536A>G (p.Ile1512Met) c.4580-4115A>G (n.4580-4115A>G) c.4263A>G (p.Ile1421Met) c.3761-4115A>G (n.3761-4115A>G) c.3714A>G (p.Ile1238Met) c.5628A>G (p.Ile1876Met) c.5352A>G (p.Ile1784Met) | gnomAD v4 |
9 | g.115046456T>G | CA466912354 | TNC | c.318-4115A>C c.3215-4115A>C (n.3215-4115A>C) c.3990A>C (p.Ile1330=) c.2022A>C (p.Ile674=) c.678A>C (p.Ile226=) c.4037A>C c.5079A>C (p.Ile1693=) c.4533A>C (p.Ile1511=) c.4307-4115A>C (n.4307-4115A>C) n.253-4115A>C n.40-4115A>C c.766A>C c.4806A>C (p.Ile1602=) c.4034-4115A>C (n.4034-4115A>C) c.3441A>C (p.Ile1147=) c.5355A>C (p.Ile1785=) c.3488-4115A>C (n.3488-4115A>C) c.5082A>C (p.Ile1694=) c.4536A>C (p.Ile1512=) c.4580-4115A>C (n.4580-4115A>C) c.4263A>C (p.Ile1421=) c.3761-4115A>C (n.3761-4115A>C) c.3714A>C (p.Ile1238=) c.5628A>C (p.Ile1876=) c.5352A>C (p.Ile1784=) | |
9 | g.115046457A>C | CA374630659 | TNC | c.318-4116T>G c.3215-4116T>G (n.3215-4116T>G) c.3989T>G (p.Ile1330Arg) c.2021T>G (p.Ile674Arg) c.677T>G (p.Ile226Arg) c.4036T>G c.5078T>G (p.Ile1693Arg) c.4532T>G (p.Ile1511Arg) c.4307-4116T>G (n.4307-4116T>G) n.253-4116T>G n.40-4116T>G c.765T>G c.4805T>G (p.Ile1602Arg) c.4034-4116T>G (n.4034-4116T>G) c.3440T>G (p.Ile1147Arg) c.5354T>G (p.Ile1785Arg) c.3488-4116T>G (n.3488-4116T>G) c.5081T>G (p.Ile1694Arg) c.4535T>G (p.Ile1512Arg) c.4580-4116T>G (n.4580-4116T>G) c.4262T>G (p.Ile1421Arg) c.3761-4116T>G (n.3761-4116T>G) c.3713T>G (p.Ile1238Arg) c.5627T>G (p.Ile1876Arg) c.5351T>G (p.Ile1784Arg) | |
9 | g.115046457A>G | CA374630661 | TNC | c.318-4116T>C c.3215-4116T>C (n.3215-4116T>C) c.3989T>C (p.Ile1330Thr) c.2021T>C (p.Ile674Thr) c.677T>C (p.Ile226Thr) c.4036T>C c.5078T>C (p.Ile1693Thr) c.4532T>C (p.Ile1511Thr) c.4307-4116T>C (n.4307-4116T>C) n.253-4116T>C n.40-4116T>C c.765T>C c.4805T>C (p.Ile1602Thr) c.4034-4116T>C (n.4034-4116T>C) c.3440T>C (p.Ile1147Thr) c.5354T>C (p.Ile1785Thr) c.3488-4116T>C (n.3488-4116T>C) c.5081T>C (p.Ile1694Thr) c.4535T>C (p.Ile1512Thr) c.4580-4116T>C (n.4580-4116T>C) c.4262T>C (p.Ile1421Thr) c.3761-4116T>C (n.3761-4116T>C) c.3713T>C (p.Ile1238Thr) c.5627T>C (p.Ile1876Thr) c.5351T>C (p.Ile1784Thr) | |
9 | g.115046457A>T | CA374630662 | TNC | c.318-4116T>A c.3215-4116T>A (n.3215-4116T>A) c.3989T>A (p.Ile1330Lys) c.2021T>A (p.Ile674Lys) c.677T>A (p.Ile226Lys) c.4036T>A c.5078T>A (p.Ile1693Lys) c.4532T>A (p.Ile1511Lys) c.4307-4116T>A (n.4307-4116T>A) n.253-4116T>A n.40-4116T>A c.765T>A c.4805T>A (p.Ile1602Lys) c.4034-4116T>A (n.4034-4116T>A) c.3440T>A (p.Ile1147Lys) c.5354T>A (p.Ile1785Lys) c.3488-4116T>A (n.3488-4116T>A) c.5081T>A (p.Ile1694Lys) c.4535T>A (p.Ile1512Lys) c.4580-4116T>A (n.4580-4116T>A) c.4262T>A (p.Ile1421Lys) c.3761-4116T>A (n.3761-4116T>A) c.3713T>A (p.Ile1238Lys) c.5627T>A (p.Ile1876Lys) c.5351T>A (p.Ile1784Lys) | |
9 | g.115046458T>A | CA374630664 | TNC | c.318-4117A>T c.3215-4117A>T (n.3215-4117A>T) c.3988A>T (p.Ile1330Leu) c.2020A>T (p.Ile674Leu) c.676A>T (p.Ile226Leu) c.4035A>T c.5077A>T (p.Ile1693Leu) c.4531A>T (p.Ile1511Leu) c.4307-4117A>T (n.4307-4117A>T) n.253-4117A>T n.40-4117A>T c.764A>T c.4804A>T (p.Ile1602Leu) c.4034-4117A>T (n.4034-4117A>T) c.3439A>T (p.Ile1147Leu) c.5353A>T (p.Ile1785Leu) c.3488-4117A>T (n.3488-4117A>T) c.5080A>T (p.Ile1694Leu) c.4534A>T (p.Ile1512Leu) c.4580-4117A>T (n.4580-4117A>T) c.4261A>T (p.Ile1421Leu) c.3761-4117A>T (n.3761-4117A>T) c.3712A>T (p.Ile1238Leu) c.5626A>T (p.Ile1876Leu) c.5350A>T (p.Ile1784Leu) | |
9 | g.115046458T>C | CA374630666 | TNC | c.318-4117A>G c.3215-4117A>G (n.3215-4117A>G) c.3988A>G (p.Ile1330Val) c.2020A>G (p.Ile674Val) c.676A>G (p.Ile226Val) c.4035A>G c.5077A>G (p.Ile1693Val) c.4531A>G (p.Ile1511Val) c.4307-4117A>G (n.4307-4117A>G) n.253-4117A>G n.40-4117A>G c.764A>G c.4804A>G (p.Ile1602Val) c.4034-4117A>G (n.4034-4117A>G) c.3439A>G (p.Ile1147Val) c.5353A>G (p.Ile1785Val) c.3488-4117A>G (n.3488-4117A>G) c.5080A>G (p.Ile1694Val) c.4534A>G (p.Ile1512Val) c.4580-4117A>G (n.4580-4117A>G) c.4261A>G (p.Ile1421Val) c.3761-4117A>G (n.3761-4117A>G) c.3712A>G (p.Ile1238Val) c.5626A>G (p.Ile1876Val) c.5350A>G (p.Ile1784Val) | gnomAD v4 |
9 | g.115046458T>G | CA374630668 | TNC | c.318-4117A>C c.3215-4117A>C (n.3215-4117A>C) c.3988A>C (p.Ile1330Leu) c.2020A>C (p.Ile674Leu) c.676A>C (p.Ile226Leu) c.4035A>C c.5077A>C (p.Ile1693Leu) c.4531A>C (p.Ile1511Leu) c.4307-4117A>C (n.4307-4117A>C) n.253-4117A>C n.40-4117A>C c.764A>C c.4804A>C (p.Ile1602Leu) c.4034-4117A>C (n.4034-4117A>C) c.3439A>C (p.Ile1147Leu) c.5353A>C (p.Ile1785Leu) c.3488-4117A>C (n.3488-4117A>C) c.5080A>C (p.Ile1694Leu) c.4534A>C (p.Ile1512Leu) c.4580-4117A>C (n.4580-4117A>C) c.4261A>C (p.Ile1421Leu) c.3761-4117A>C (n.3761-4117A>C) c.3712A>C (p.Ile1238Leu) c.5626A>C (p.Ile1876Leu) c.5350A>C (p.Ile1784Leu) | |
9 | g.115046459T>A | CA466912359 | TNC | c.318-4118A>T c.3215-4118A>T (n.3215-4118A>T) c.3987A>T (p.Gly1329=) c.2019A>T (p.Gly673=) c.675A>T (p.Gly225=) c.4034A>T c.5076A>T (p.Gly1692=) c.4530A>T (p.Gly1510=) c.4307-4118A>T (n.4307-4118A>T) n.253-4118A>T n.40-4118A>T c.763A>T c.4803A>T (p.Gly1601=) c.4034-4118A>T (n.4034-4118A>T) c.3438A>T (p.Gly1146=) c.5352A>T (p.Gly1784=) c.3488-4118A>T (n.3488-4118A>T) c.5079A>T (p.Gly1693=) c.4533A>T (p.Gly1511=) c.4580-4118A>T (n.4580-4118A>T) c.4260A>T (p.Gly1420=) c.3761-4118A>T (n.3761-4118A>T) c.3711A>T (p.Gly1237=) c.5625A>T (p.Gly1875=) c.5349A>T (p.Gly1783=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.115046459T>C | CA466912360 | TNC | c.318-4118A>G c.3215-4118A>G (n.3215-4118A>G) c.3987A>G (p.Gly1329=) c.2019A>G (p.Gly673=) c.675A>G (p.Gly225=) c.4034A>G c.5076A>G (p.Gly1692=) c.4530A>G (p.Gly1510=) c.4307-4118A>G (n.4307-4118A>G) n.253-4118A>G n.40-4118A>G c.763A>G c.4803A>G (p.Gly1601=) c.4034-4118A>G (n.4034-4118A>G) c.3438A>G (p.Gly1146=) c.5352A>G (p.Gly1784=) c.3488-4118A>G (n.3488-4118A>G) c.5079A>G (p.Gly1693=) c.4533A>G (p.Gly1511=) c.4580-4118A>G (n.4580-4118A>G) c.4260A>G (p.Gly1420=) c.3761-4118A>G (n.3761-4118A>G) c.3711A>G (p.Gly1237=) c.5625A>G (p.Gly1875=) c.5349A>G (p.Gly1783=) | gnomAD v4 |
9 | g.115046459T>G | CA466912361 | TNC | c.318-4118A>C c.3215-4118A>C (n.3215-4118A>C) c.3987A>C (p.Gly1329=) c.2019A>C (p.Gly673=) c.675A>C (p.Gly225=) c.4034A>C c.5076A>C (p.Gly1692=) c.4530A>C (p.Gly1510=) c.4307-4118A>C (n.4307-4118A>C) n.253-4118A>C n.40-4118A>C c.763A>C c.4803A>C (p.Gly1601=) c.4034-4118A>C (n.4034-4118A>C) c.3438A>C (p.Gly1146=) c.5352A>C (p.Gly1784=) c.3488-4118A>C (n.3488-4118A>C) c.5079A>C (p.Gly1693=) c.4533A>C (p.Gly1511=) c.4580-4118A>C (n.4580-4118A>C) c.4260A>C (p.Gly1420=) c.3761-4118A>C (n.3761-4118A>C) c.3711A>C (p.Gly1237=) c.5625A>C (p.Gly1875=) c.5349A>C (p.Gly1783=) | |
9 | g.115046459T= | CA1874118876 | TNC | c.318-4118A= c.3215-4118A= (n.3215-4118A=) c.3987A= (p.Gly1329=) c.2019A= (p.Gly673=) c.675A= (p.Gly225=) c.4034A= c.5076A= (p.Gly1692=) c.4530A= (p.Gly1510=) c.4307-4118A= (n.4307-4118A=) n.253-4118A= n.40-4118A= c.763A= c.4803A= (p.Gly1601=) c.4034-4118A= (n.4034-4118A=) c.3438A= (p.Gly1146=) c.5352A= (p.Gly1784=) c.3488-4118A= (n.3488-4118A=) c.5079A= (p.Gly1693=) c.4533A= (p.Gly1511=) c.4580-4118A= (n.4580-4118A=) c.4260A= (p.Gly1420=) c.3761-4118A= (n.3761-4118A=) c.3711A= (p.Gly1237=) c.5625A= (p.Gly1875=) c.5349A= (p.Gly1783=) | |
9 | g.115046460C>A | CA374630670 | TNC | c.318-4119G>T c.3215-4119G>T (n.3215-4119G>T) c.3986G>T (p.Gly1329Val) c.2018G>T (p.Gly673Val) c.674G>T (p.Gly225Val) c.4033G>T c.5075G>T (p.Gly1692Val) c.4529G>T (p.Gly1510Val) c.4307-4119G>T (n.4307-4119G>T) n.253-4119G>T n.40-4119G>T c.762G>T c.4802G>T (p.Gly1601Val) c.4034-4119G>T (n.4034-4119G>T) c.3437G>T (p.Gly1146Val) c.5351G>T (p.Gly1784Val) c.3488-4119G>T (n.3488-4119G>T) c.5078G>T (p.Gly1693Val) c.4532G>T (p.Gly1511Val) c.4580-4119G>T (n.4580-4119G>T) c.4259G>T (p.Gly1420Val) c.3761-4119G>T (n.3761-4119G>T) c.3710G>T (p.Gly1237Val) c.5624G>T (p.Gly1875Val) c.5348G>T (p.Gly1783Val) | |
9 | g.115046460C= | CA1874118877 | TNC | c.318-4119G= c.3215-4119G= (n.3215-4119G=) c.3986G= (p.Gly1329=) c.2018G= (p.Gly673=) c.674G= (p.Gly225=) c.4033G= c.5075G= (p.Gly1692=) c.4529G= (p.Gly1510=) c.4307-4119G= (n.4307-4119G=) n.253-4119G= n.40-4119G= c.762G= c.4802G= (p.Gly1601=) c.4034-4119G= (n.4034-4119G=) c.3437G= (p.Gly1146=) c.5351G= (p.Gly1784=) c.3488-4119G= (n.3488-4119G=) c.5078G= (p.Gly1693=) c.4532G= (p.Gly1511=) c.4580-4119G= (n.4580-4119G=) c.4259G= (p.Gly1420=) c.3761-4119G= (n.3761-4119G=) c.3710G= (p.Gly1237=) c.5624G= (p.Gly1875=) c.5348G= (p.Gly1783=) | |
9 | g.115046460C>G | CA374630672 | TNC | c.318-4119G>C c.3215-4119G>C (n.3215-4119G>C) c.3986G>C (p.Gly1329Ala) c.2018G>C (p.Gly673Ala) c.674G>C (p.Gly225Ala) c.4033G>C c.5075G>C (p.Gly1692Ala) c.4529G>C (p.Gly1510Ala) c.4307-4119G>C (n.4307-4119G>C) n.253-4119G>C n.40-4119G>C c.762G>C c.4802G>C (p.Gly1601Ala) c.4034-4119G>C (n.4034-4119G>C) c.3437G>C (p.Gly1146Ala) c.5351G>C (p.Gly1784Ala) c.3488-4119G>C (n.3488-4119G>C) c.5078G>C (p.Gly1693Ala) c.4532G>C (p.Gly1511Ala) c.4580-4119G>C (n.4580-4119G>C) c.4259G>C (p.Gly1420Ala) c.3761-4119G>C (n.3761-4119G>C) c.3710G>C (p.Gly1237Ala) c.5624G>C (p.Gly1875Ala) c.5348G>C (p.Gly1783Ala) | dbSNP |
9 | g.115046460C>T | CA374630673 | TNC | c.318-4119G>A c.3215-4119G>A (n.3215-4119G>A) c.3986G>A (p.Gly1329Glu) c.2018G>A (p.Gly673Glu) c.674G>A (p.Gly225Glu) c.4033G>A c.5075G>A (p.Gly1692Glu) c.4529G>A (p.Gly1510Glu) c.4307-4119G>A (n.4307-4119G>A) n.253-4119G>A n.40-4119G>A c.762G>A c.4802G>A (p.Gly1601Glu) c.4034-4119G>A (n.4034-4119G>A) c.3437G>A (p.Gly1146Glu) c.5351G>A (p.Gly1784Glu) c.3488-4119G>A (n.3488-4119G>A) c.5078G>A (p.Gly1693Glu) c.4532G>A (p.Gly1511Glu) c.4580-4119G>A (n.4580-4119G>A) c.4259G>A (p.Gly1420Glu) c.3761-4119G>A (n.3761-4119G>A) c.3710G>A (p.Gly1237Glu) c.5624G>A (p.Gly1875Glu) c.5348G>A (p.Gly1783Glu) | |
9 | g.115046461C>A | CA374630678 | TNC | c.318-4120G>T c.3215-4120G>T (n.3215-4120G>T) c.3985G>T (p.Gly1329Ter) c.2017G>T (p.Gly673Ter) c.673G>T (p.Gly225Ter) c.4032G>T c.5074G>T (p.Gly1692Ter) c.4528G>T (p.Gly1510Ter) c.4307-4120G>T (n.4307-4120G>T) n.253-4120G>T n.40-4120G>T c.761G>T c.4801G>T (p.Gly1601Ter) c.4034-4120G>T (n.4034-4120G>T) c.3436G>T (p.Gly1146Ter) c.5350G>T (p.Gly1784Ter) c.3488-4120G>T (n.3488-4120G>T) c.5077G>T (p.Gly1693Ter) c.4531G>T (p.Gly1511Ter) c.4580-4120G>T (n.4580-4120G>T) c.4258G>T (p.Gly1420Ter) c.3761-4120G>T (n.3761-4120G>T) c.3709G>T (p.Gly1237Ter) c.5623G>T (p.Gly1875Ter) c.5347G>T (p.Gly1783Ter) | COSMIC |
9 | g.115046461C>G | CA374630680 | TNC | c.318-4120G>C c.3215-4120G>C (n.3215-4120G>C) c.3985G>C (p.Gly1329Arg) c.2017G>C (p.Gly673Arg) c.673G>C (p.Gly225Arg) c.4032G>C c.5074G>C (p.Gly1692Arg) c.4528G>C (p.Gly1510Arg) c.4307-4120G>C (n.4307-4120G>C) n.253-4120G>C n.40-4120G>C c.761G>C c.4801G>C (p.Gly1601Arg) c.4034-4120G>C (n.4034-4120G>C) c.3436G>C (p.Gly1146Arg) c.5350G>C (p.Gly1784Arg) c.3488-4120G>C (n.3488-4120G>C) c.5077G>C (p.Gly1693Arg) c.4531G>C (p.Gly1511Arg) c.4580-4120G>C (n.4580-4120G>C) c.4258G>C (p.Gly1420Arg) c.3761-4120G>C (n.3761-4120G>C) c.3709G>C (p.Gly1237Arg) c.5623G>C (p.Gly1875Arg) c.5347G>C (p.Gly1783Arg) | |
9 | g.115046461C>T | CA374630676 | TNC | c.318-4120G>A c.3215-4120G>A (n.3215-4120G>A) c.3985G>A (p.Gly1329Arg) c.2017G>A (p.Gly673Arg) c.673G>A (p.Gly225Arg) c.4032G>A c.5074G>A (p.Gly1692Arg) c.4528G>A (p.Gly1510Arg) c.4307-4120G>A (n.4307-4120G>A) n.253-4120G>A n.40-4120G>A c.761G>A c.4801G>A (p.Gly1601Arg) c.4034-4120G>A (n.4034-4120G>A) c.3436G>A (p.Gly1146Arg) c.5350G>A (p.Gly1784Arg) c.3488-4120G>A (n.3488-4120G>A) c.5077G>A (p.Gly1693Arg) c.4531G>A (p.Gly1511Arg) c.4580-4120G>A (n.4580-4120G>A) c.4258G>A (p.Gly1420Arg) c.3761-4120G>A (n.3761-4120G>A) c.3709G>A (p.Gly1237Arg) c.5623G>A (p.Gly1875Arg) c.5347G>A (p.Gly1783Arg) | |
9 | g.115046462A= | CA1874118878 | TNC | c.318-4121T= c.3215-4121T= (n.3215-4121T=) c.3984T= (p.Tyr1328=) c.2016T= (p.Tyr672=) c.672T= (p.Tyr224=) c.4031T= c.5073T= (p.Tyr1691=) c.4527T= (p.Tyr1509=) c.4307-4121T= (n.4307-4121T=) n.253-4121T= n.40-4121T= c.760T= c.4800T= (p.Tyr1600=) c.4034-4121T= (n.4034-4121T=) c.3435T= (p.Tyr1145=) c.5349T= (p.Tyr1783=) c.3488-4121T= (n.3488-4121T=) c.5076T= (p.Tyr1692=) c.4530T= (p.Tyr1510=) c.4580-4121T= (n.4580-4121T=) c.4257T= (p.Tyr1419=) c.3761-4121T= (n.3761-4121T=) c.3708T= (p.Tyr1236=) c.5622T= (p.Tyr1874=) c.5346T= (p.Tyr1782=) | |
9 | g.115046462A>C | CA374630682 | TNC | c.318-4121T>G c.3215-4121T>G (n.3215-4121T>G) c.3984T>G (p.Tyr1328Ter) c.2016T>G (p.Tyr672Ter) c.672T>G (p.Tyr224Ter) c.4031T>G c.5073T>G (p.Tyr1691Ter) c.4527T>G (p.Tyr1509Ter) c.4307-4121T>G (n.4307-4121T>G) n.253-4121T>G n.40-4121T>G c.760T>G c.4800T>G (p.Tyr1600Ter) c.4034-4121T>G (n.4034-4121T>G) c.3435T>G (p.Tyr1145Ter) c.5349T>G (p.Tyr1783Ter) c.3488-4121T>G (n.3488-4121T>G) c.5076T>G (p.Tyr1692Ter) c.4530T>G (p.Tyr1510Ter) c.4580-4121T>G (n.4580-4121T>G) c.4257T>G (p.Tyr1419Ter) c.3761-4121T>G (n.3761-4121T>G) c.3708T>G (p.Tyr1236Ter) c.5622T>G (p.Tyr1874Ter) c.5346T>G (p.Tyr1782Ter) | |
9 | g.115046462A>G | CA466912364 | TNC | c.318-4121T>C c.3215-4121T>C (n.3215-4121T>C) c.3984T>C (p.Tyr1328=) c.2016T>C (p.Tyr672=) c.672T>C (p.Tyr224=) c.4031T>C c.5073T>C (p.Tyr1691=) c.4527T>C (p.Tyr1509=) c.4307-4121T>C (n.4307-4121T>C) n.253-4121T>C n.40-4121T>C c.760T>C c.4800T>C (p.Tyr1600=) c.4034-4121T>C (n.4034-4121T>C) c.3435T>C (p.Tyr1145=) c.5349T>C (p.Tyr1783=) c.3488-4121T>C (n.3488-4121T>C) c.5076T>C (p.Tyr1692=) c.4530T>C (p.Tyr1510=) c.4580-4121T>C (n.4580-4121T>C) c.4257T>C (p.Tyr1419=) c.3761-4121T>C (n.3761-4121T>C) c.3708T>C (p.Tyr1236=) c.5622T>C (p.Tyr1874=) c.5346T>C (p.Tyr1782=) | |
9 | g.115046462A>T | CA5207763 | TNC | c.318-4121T>A c.3215-4121T>A (n.3215-4121T>A) c.3984T>A (p.Tyr1328Ter) c.2016T>A (p.Tyr672Ter) c.672T>A (p.Tyr224Ter) c.4031T>A c.5073T>A (p.Tyr1691Ter) c.4527T>A (p.Tyr1509Ter) c.4307-4121T>A (n.4307-4121T>A) n.253-4121T>A n.40-4121T>A c.760T>A c.4800T>A (p.Tyr1600Ter) c.4034-4121T>A (n.4034-4121T>A) c.3435T>A (p.Tyr1145Ter) c.5349T>A (p.Tyr1783Ter) c.3488-4121T>A (n.3488-4121T>A) c.5076T>A (p.Tyr1692Ter) c.4530T>A (p.Tyr1510Ter) c.4580-4121T>A (n.4580-4121T>A) c.4257T>A (p.Tyr1419Ter) c.3761-4121T>A (n.3761-4121T>A) c.3708T>A (p.Tyr1236Ter) c.5622T>A (p.Tyr1874Ter) c.5346T>A (p.Tyr1782Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046463T>A | CA374630685 | TNC | c.318-4122A>T c.3215-4122A>T (n.3215-4122A>T) c.3983A>T (p.Tyr1328Phe) c.2015A>T (p.Tyr672Phe) c.671A>T (p.Tyr224Phe) c.4030A>T c.5072A>T (p.Tyr1691Phe) c.4526A>T (p.Tyr1509Phe) c.4307-4122A>T (n.4307-4122A>T) n.253-4122A>T n.40-4122A>T c.759A>T c.4799A>T (p.Tyr1600Phe) c.4034-4122A>T (n.4034-4122A>T) c.3434A>T (p.Tyr1145Phe) c.5348A>T (p.Tyr1783Phe) c.3488-4122A>T (n.3488-4122A>T) c.5075A>T (p.Tyr1692Phe) c.4529A>T (p.Tyr1510Phe) c.4580-4122A>T (n.4580-4122A>T) c.4256A>T (p.Tyr1419Phe) c.3761-4122A>T (n.3761-4122A>T) c.3707A>T (p.Tyr1236Phe) c.5621A>T (p.Tyr1874Phe) c.5345A>T (p.Tyr1782Phe) | |
9 | g.115046463T>C | CA374630689 | TNC | c.318-4122A>G c.3215-4122A>G (n.3215-4122A>G) c.3983A>G (p.Tyr1328Cys) c.2015A>G (p.Tyr672Cys) c.671A>G (p.Tyr224Cys) c.4030A>G c.5072A>G (p.Tyr1691Cys) c.4526A>G (p.Tyr1509Cys) c.4307-4122A>G (n.4307-4122A>G) n.253-4122A>G n.40-4122A>G c.759A>G c.4799A>G (p.Tyr1600Cys) c.4034-4122A>G (n.4034-4122A>G) c.3434A>G (p.Tyr1145Cys) c.5348A>G (p.Tyr1783Cys) c.3488-4122A>G (n.3488-4122A>G) c.5075A>G (p.Tyr1692Cys) c.4529A>G (p.Tyr1510Cys) c.4580-4122A>G (n.4580-4122A>G) c.4256A>G (p.Tyr1419Cys) c.3761-4122A>G (n.3761-4122A>G) c.3707A>G (p.Tyr1236Cys) c.5621A>G (p.Tyr1874Cys) c.5345A>G (p.Tyr1782Cys) | |
9 | g.115046463T>G | CA374630687 | TNC | c.318-4122A>C c.3215-4122A>C (n.3215-4122A>C) c.3983A>C (p.Tyr1328Ser) c.2015A>C (p.Tyr672Ser) c.671A>C (p.Tyr224Ser) c.4030A>C c.5072A>C (p.Tyr1691Ser) c.4526A>C (p.Tyr1509Ser) c.4307-4122A>C (n.4307-4122A>C) n.253-4122A>C n.40-4122A>C c.759A>C c.4799A>C (p.Tyr1600Ser) c.4034-4122A>C (n.4034-4122A>C) c.3434A>C (p.Tyr1145Ser) c.5348A>C (p.Tyr1783Ser) c.3488-4122A>C (n.3488-4122A>C) c.5075A>C (p.Tyr1692Ser) c.4529A>C (p.Tyr1510Ser) c.4580-4122A>C (n.4580-4122A>C) c.4256A>C (p.Tyr1419Ser) c.3761-4122A>C (n.3761-4122A>C) c.3707A>C (p.Tyr1236Ser) c.5621A>C (p.Tyr1874Ser) c.5345A>C (p.Tyr1782Ser) | |
9 | g.115046464A>C | CA374630692 | TNC | c.318-4123T>G c.3215-4123T>G (n.3215-4123T>G) c.3982T>G (p.Tyr1328Asp) c.2014T>G (p.Tyr672Asp) c.670T>G (p.Tyr224Asp) c.4029T>G c.5071T>G (p.Tyr1691Asp) c.4525T>G (p.Tyr1509Asp) c.4307-4123T>G (n.4307-4123T>G) n.253-4123T>G n.40-4123T>G c.758T>G c.4798T>G (p.Tyr1600Asp) c.4034-4123T>G (n.4034-4123T>G) c.3433T>G (p.Tyr1145Asp) c.5347T>G (p.Tyr1783Asp) c.3488-4123T>G (n.3488-4123T>G) c.5074T>G (p.Tyr1692Asp) c.4528T>G (p.Tyr1510Asp) c.4580-4123T>G (n.4580-4123T>G) c.4255T>G (p.Tyr1419Asp) c.3761-4123T>G (n.3761-4123T>G) c.3706T>G (p.Tyr1236Asp) c.5620T>G (p.Tyr1874Asp) c.5344T>G (p.Tyr1782Asp) | |
9 | g.115046464A>G | CA374630694 | TNC | c.318-4123T>C c.3215-4123T>C (n.3215-4123T>C) c.3982T>C (p.Tyr1328His) c.2014T>C (p.Tyr672His) c.670T>C (p.Tyr224His) c.4029T>C c.5071T>C (p.Tyr1691His) c.4525T>C (p.Tyr1509His) c.4307-4123T>C (n.4307-4123T>C) n.253-4123T>C n.40-4123T>C c.758T>C c.4798T>C (p.Tyr1600His) c.4034-4123T>C (n.4034-4123T>C) c.3433T>C (p.Tyr1145His) c.5347T>C (p.Tyr1783His) c.3488-4123T>C (n.3488-4123T>C) c.5074T>C (p.Tyr1692His) c.4528T>C (p.Tyr1510His) c.4580-4123T>C (n.4580-4123T>C) c.4255T>C (p.Tyr1419His) c.3761-4123T>C (n.3761-4123T>C) c.3706T>C (p.Tyr1236His) c.5620T>C (p.Tyr1874His) c.5344T>C (p.Tyr1782His) | gnomAD v4 |
9 | g.115046464A>T | CA374630695 | TNC | c.318-4123T>A c.3215-4123T>A (n.3215-4123T>A) c.3982T>A (p.Tyr1328Asn) c.2014T>A (p.Tyr672Asn) c.670T>A (p.Tyr224Asn) c.4029T>A c.5071T>A (p.Tyr1691Asn) c.4525T>A (p.Tyr1509Asn) c.4307-4123T>A (n.4307-4123T>A) n.253-4123T>A n.40-4123T>A c.758T>A c.4798T>A (p.Tyr1600Asn) c.4034-4123T>A (n.4034-4123T>A) c.3433T>A (p.Tyr1145Asn) c.5347T>A (p.Tyr1783Asn) c.3488-4123T>A (n.3488-4123T>A) c.5074T>A (p.Tyr1692Asn) c.4528T>A (p.Tyr1510Asn) c.4580-4123T>A (n.4580-4123T>A) c.4255T>A (p.Tyr1419Asn) c.3761-4123T>A (n.3761-4123T>A) c.3706T>A (p.Tyr1236Asn) c.5620T>A (p.Tyr1874Asn) c.5344T>A (p.Tyr1782Asn) | |
9 | g.115046465G>A | CA466912368 | TNC | c.318-4124C>T c.3215-4124C>T (n.3215-4124C>T) c.3981C>T (p.Leu1327=) c.2013C>T (p.Leu671=) c.669C>T (p.Leu223=) c.4028C>T c.5070C>T (p.Leu1690=) c.4524C>T (p.Leu1508=) c.4307-4124C>T (n.4307-4124C>T) n.253-4124C>T n.40-4124C>T c.757C>T c.4797C>T (p.Leu1599=) c.4034-4124C>T (n.4034-4124C>T) c.3432C>T (p.Leu1144=) c.5346C>T (p.Leu1782=) c.3488-4124C>T (n.3488-4124C>T) c.5073C>T (p.Leu1691=) c.4527C>T (p.Leu1509=) c.4580-4124C>T (n.4580-4124C>T) c.4254C>T (p.Leu1418=) c.3761-4124C>T (n.3761-4124C>T) c.3705C>T (p.Leu1235=) c.5619C>T (p.Leu1873=) c.5343C>T (p.Leu1781=) | |
9 | g.115046465G>C | CA466912369 | TNC | c.318-4124C>G c.3215-4124C>G (n.3215-4124C>G) c.3981C>G (p.Leu1327=) c.2013C>G (p.Leu671=) c.669C>G (p.Leu223=) c.4028C>G c.5070C>G (p.Leu1690=) c.4524C>G (p.Leu1508=) c.4307-4124C>G (n.4307-4124C>G) n.253-4124C>G n.40-4124C>G c.757C>G c.4797C>G (p.Leu1599=) c.4034-4124C>G (n.4034-4124C>G) c.3432C>G (p.Leu1144=) c.5346C>G (p.Leu1782=) c.3488-4124C>G (n.3488-4124C>G) c.5073C>G (p.Leu1691=) c.4527C>G (p.Leu1509=) c.4580-4124C>G (n.4580-4124C>G) c.4254C>G (p.Leu1418=) c.3761-4124C>G (n.3761-4124C>G) c.3705C>G (p.Leu1235=) c.5619C>G (p.Leu1873=) c.5343C>G (p.Leu1781=) | |
9 | g.115046465G>T | CA466912370 | TNC | c.318-4124C>A c.3215-4124C>A (n.3215-4124C>A) c.3981C>A (p.Leu1327=) c.2013C>A (p.Leu671=) c.669C>A (p.Leu223=) c.4028C>A c.5070C>A (p.Leu1690=) c.4524C>A (p.Leu1508=) c.4307-4124C>A (n.4307-4124C>A) n.253-4124C>A n.40-4124C>A c.757C>A c.4797C>A (p.Leu1599=) c.4034-4124C>A (n.4034-4124C>A) c.3432C>A (p.Leu1144=) c.5346C>A (p.Leu1782=) c.3488-4124C>A (n.3488-4124C>A) c.5073C>A (p.Leu1691=) c.4527C>A (p.Leu1509=) c.4580-4124C>A (n.4580-4124C>A) c.4254C>A (p.Leu1418=) c.3761-4124C>A (n.3761-4124C>A) c.3705C>A (p.Leu1235=) c.5619C>A (p.Leu1873=) c.5343C>A (p.Leu1781=) | |
9 | g.115046466A>C | CA374630697 | TNC | c.318-4125T>G c.3215-4125T>G (n.3215-4125T>G) c.3980T>G (p.Leu1327Arg) c.2012T>G (p.Leu671Arg) c.668T>G (p.Leu223Arg) c.4027T>G c.5069T>G (p.Leu1690Arg) c.4523T>G (p.Leu1508Arg) c.4307-4125T>G (n.4307-4125T>G) n.253-4125T>G n.40-4125T>G c.756T>G c.4796T>G (p.Leu1599Arg) c.4034-4125T>G (n.4034-4125T>G) c.3431T>G (p.Leu1144Arg) c.5345T>G (p.Leu1782Arg) c.3488-4125T>G (n.3488-4125T>G) c.5072T>G (p.Leu1691Arg) c.4526T>G (p.Leu1509Arg) c.4580-4125T>G (n.4580-4125T>G) c.4253T>G (p.Leu1418Arg) c.3761-4125T>G (n.3761-4125T>G) c.3704T>G (p.Leu1235Arg) c.5618T>G (p.Leu1873Arg) c.5342T>G (p.Leu1781Arg) | |
9 | g.115046466A>G | CA374630698 | TNC | c.318-4125T>C c.3215-4125T>C (n.3215-4125T>C) c.3980T>C (p.Leu1327Pro) c.2012T>C (p.Leu671Pro) c.668T>C (p.Leu223Pro) c.4027T>C c.5069T>C (p.Leu1690Pro) c.4523T>C (p.Leu1508Pro) c.4307-4125T>C (n.4307-4125T>C) n.253-4125T>C n.40-4125T>C c.756T>C c.4796T>C (p.Leu1599Pro) c.4034-4125T>C (n.4034-4125T>C) c.3431T>C (p.Leu1144Pro) c.5345T>C (p.Leu1782Pro) c.3488-4125T>C (n.3488-4125T>C) c.5072T>C (p.Leu1691Pro) c.4526T>C (p.Leu1509Pro) c.4580-4125T>C (n.4580-4125T>C) c.4253T>C (p.Leu1418Pro) c.3761-4125T>C (n.3761-4125T>C) c.3704T>C (p.Leu1235Pro) c.5618T>C (p.Leu1873Pro) c.5342T>C (p.Leu1781Pro) | |
9 | g.115046466A>T | CA374630700 | TNC | c.318-4125T>A c.3215-4125T>A (n.3215-4125T>A) c.3980T>A (p.Leu1327His) c.2012T>A (p.Leu671His) c.668T>A (p.Leu223His) c.4027T>A c.5069T>A (p.Leu1690His) c.4523T>A (p.Leu1508His) c.4307-4125T>A (n.4307-4125T>A) n.253-4125T>A n.40-4125T>A c.756T>A c.4796T>A (p.Leu1599His) c.4034-4125T>A (n.4034-4125T>A) c.3431T>A (p.Leu1144His) c.5345T>A (p.Leu1782His) c.3488-4125T>A (n.3488-4125T>A) c.5072T>A (p.Leu1691His) c.4526T>A (p.Leu1509His) c.4580-4125T>A (n.4580-4125T>A) c.4253T>A (p.Leu1418His) c.3761-4125T>A (n.3761-4125T>A) c.3704T>A (p.Leu1235His) c.5618T>A (p.Leu1873His) c.5342T>A (p.Leu1781His) | |
9 | g.115046467G>A | CA5207764 | TNC | c.318-4126C>T c.3215-4126C>T (n.3215-4126C>T) c.3979C>T (p.Leu1327Phe) c.2011C>T (p.Leu671Phe) c.667C>T (p.Leu223Phe) c.4026C>T c.5068C>T (p.Leu1690Phe) c.4522C>T (p.Leu1508Phe) c.4307-4126C>T (n.4307-4126C>T) n.386C>T n.253-4126C>T n.40-4126C>T c.755C>T c.4795C>T (p.Leu1599Phe) c.4034-4126C>T (n.4034-4126C>T) c.3430C>T (p.Leu1144Phe) c.5344C>T (p.Leu1782Phe) c.3488-4126C>T (n.3488-4126C>T) c.5071C>T (p.Leu1691Phe) c.4525C>T (p.Leu1509Phe) c.4580-4126C>T (n.4580-4126C>T) c.4252C>T (p.Leu1418Phe) c.3761-4126C>T (n.3761-4126C>T) c.3703C>T (p.Leu1235Phe) c.5617C>T (p.Leu1873Phe) c.5341C>T (p.Leu1781Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046467G>C | CA374630703 | TNC | c.318-4126C>G c.3215-4126C>G (n.3215-4126C>G) c.3979C>G (p.Leu1327Val) c.2011C>G (p.Leu671Val) c.667C>G (p.Leu223Val) c.4026C>G c.5068C>G (p.Leu1690Val) c.4522C>G (p.Leu1508Val) c.4307-4126C>G (n.4307-4126C>G) n.386C>G n.253-4126C>G n.40-4126C>G c.755C>G c.4795C>G (p.Leu1599Val) c.4034-4126C>G (n.4034-4126C>G) c.3430C>G (p.Leu1144Val) c.5344C>G (p.Leu1782Val) c.3488-4126C>G (n.3488-4126C>G) c.5071C>G (p.Leu1691Val) c.4525C>G (p.Leu1509Val) c.4580-4126C>G (n.4580-4126C>G) c.4252C>G (p.Leu1418Val) c.3761-4126C>G (n.3761-4126C>G) c.3703C>G (p.Leu1235Val) c.5617C>G (p.Leu1873Val) c.5341C>G (p.Leu1781Val) | |
9 | g.115046467G= | CA1874118879 | TNC | c.318-4126C= c.3215-4126C= (n.3215-4126C=) c.3979C= (p.Leu1327=) c.2011C= (p.Leu671=) c.667C= (p.Leu223=) c.4026C= c.5068C= (p.Leu1690=) c.4522C= (p.Leu1508=) c.4307-4126C= (n.4307-4126C=) n.386C= n.253-4126C= n.40-4126C= c.755C= c.4795C= (p.Leu1599=) c.4034-4126C= (n.4034-4126C=) c.3430C= (p.Leu1144=) c.5344C= (p.Leu1782=) c.3488-4126C= (n.3488-4126C=) c.5071C= (p.Leu1691=) c.4525C= (p.Leu1509=) c.4580-4126C= (n.4580-4126C=) c.4252C= (p.Leu1418=) c.3761-4126C= (n.3761-4126C=) c.3703C= (p.Leu1235=) c.5617C= (p.Leu1873=) c.5341C= (p.Leu1781=) | |
9 | g.115046467G>T | CA374630705 | TNC | c.318-4126C>A c.3215-4126C>A (n.3215-4126C>A) c.3979C>A (p.Leu1327Ile) c.2011C>A (p.Leu671Ile) c.667C>A (p.Leu223Ile) c.4026C>A c.5068C>A (p.Leu1690Ile) c.4522C>A (p.Leu1508Ile) c.4307-4126C>A (n.4307-4126C>A) n.386C>A n.253-4126C>A n.40-4126C>A c.755C>A c.4795C>A (p.Leu1599Ile) c.4034-4126C>A (n.4034-4126C>A) c.3430C>A (p.Leu1144Ile) c.5344C>A (p.Leu1782Ile) c.3488-4126C>A (n.3488-4126C>A) c.5071C>A (p.Leu1691Ile) c.4525C>A (p.Leu1509Ile) c.4580-4126C>A (n.4580-4126C>A) c.4252C>A (p.Leu1418Ile) c.3761-4126C>A (n.3761-4126C>A) c.3703C>A (p.Leu1235Ile) c.5617C>A (p.Leu1873Ile) c.5341C>A (p.Leu1781Ile) | |
9 | g.115046468T>A | CA374630707 | TNC | c.318-4127A>T c.3215-4127A>T (n.3215-4127A>T) c.3978A>T (p.Glu1326Asp) c.2010A>T (p.Glu670Asp) c.666A>T (p.Glu222Asp) c.4025A>T c.5067A>T (p.Glu1689Asp) c.4521A>T (p.Glu1507Asp) c.4307-4127A>T (n.4307-4127A>T) n.385A>T n.253-4127A>T n.40-4127A>T c.754A>T c.4794A>T (p.Glu1598Asp) c.4034-4127A>T (n.4034-4127A>T) c.3429A>T (p.Glu1143Asp) c.5343A>T (p.Glu1781Asp) c.3488-4127A>T (n.3488-4127A>T) c.5070A>T (p.Glu1690Asp) c.4524A>T (p.Glu1508Asp) c.4580-4127A>T (n.4580-4127A>T) c.4251A>T (p.Glu1417Asp) c.3761-4127A>T (n.3761-4127A>T) c.3702A>T (p.Glu1234Asp) c.5616A>T (p.Glu1872Asp) c.5340A>T (p.Glu1780Asp) | |
9 | g.115046468T>C | CA466912373 | TNC | c.318-4127A>G c.3215-4127A>G (n.3215-4127A>G) c.3978A>G (p.Glu1326=) c.2010A>G (p.Glu670=) c.666A>G (p.Glu222=) c.4025A>G c.5067A>G (p.Glu1689=) c.4521A>G (p.Glu1507=) c.4307-4127A>G (n.4307-4127A>G) n.385A>G n.253-4127A>G n.40-4127A>G c.754A>G c.4794A>G (p.Glu1598=) c.4034-4127A>G (n.4034-4127A>G) c.3429A>G (p.Glu1143=) c.5343A>G (p.Glu1781=) c.3488-4127A>G (n.3488-4127A>G) c.5070A>G (p.Glu1690=) c.4524A>G (p.Glu1508=) c.4580-4127A>G (n.4580-4127A>G) c.4251A>G (p.Glu1417=) c.3761-4127A>G (n.3761-4127A>G) c.3702A>G (p.Glu1234=) c.5616A>G (p.Glu1872=) c.5340A>G (p.Glu1780=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.115046468T>G | CA374630709 | TNC | c.318-4127A>C c.3215-4127A>C (n.3215-4127A>C) c.3978A>C (p.Glu1326Asp) c.2010A>C (p.Glu670Asp) c.666A>C (p.Glu222Asp) c.4025A>C c.5067A>C (p.Glu1689Asp) c.4521A>C (p.Glu1507Asp) c.4307-4127A>C (n.4307-4127A>C) n.385A>C n.253-4127A>C n.40-4127A>C c.754A>C c.4794A>C (p.Glu1598Asp) c.4034-4127A>C (n.4034-4127A>C) c.3429A>C (p.Glu1143Asp) c.5343A>C (p.Glu1781Asp) c.3488-4127A>C (n.3488-4127A>C) c.5070A>C (p.Glu1690Asp) c.4524A>C (p.Glu1508Asp) c.4580-4127A>C (n.4580-4127A>C) c.4251A>C (p.Glu1417Asp) c.3761-4127A>C (n.3761-4127A>C) c.3702A>C (p.Glu1234Asp) c.5616A>C (p.Glu1872Asp) c.5340A>C (p.Glu1780Asp) | COSMIC |
9 | g.115046468T= | CA1874118880 | TNC | c.318-4127A= c.3215-4127A= (n.3215-4127A=) c.3978A= (p.Glu1326=) c.2010A= (p.Glu670=) c.666A= (p.Glu222=) c.4025A= c.5067A= (p.Glu1689=) c.4521A= (p.Glu1507=) c.4307-4127A= (n.4307-4127A=) n.385A= n.253-4127A= n.40-4127A= c.754A= c.4794A= (p.Glu1598=) c.4034-4127A= (n.4034-4127A=) c.3429A= (p.Glu1143=) c.5343A= (p.Glu1781=) c.3488-4127A= (n.3488-4127A=) c.5070A= (p.Glu1690=) c.4524A= (p.Glu1508=) c.4580-4127A= (n.4580-4127A=) c.4251A= (p.Glu1417=) c.3761-4127A= (n.3761-4127A=) c.3702A= (p.Glu1234=) c.5616A= (p.Glu1872=) c.5340A= (p.Glu1780=) | |
9 | g.115046469T>A | CA374630715 | TNC | c.318-4128A>T c.3215-4128A>T (n.3215-4128A>T) c.3977A>T (p.Glu1326Val) c.2009A>T (p.Glu670Val) c.665A>T (p.Glu222Val) c.4024A>T c.5066A>T (p.Glu1689Val) c.4520A>T (p.Glu1507Val) c.4307-4128A>T (n.4307-4128A>T) n.384A>T n.253-4128A>T n.40-4128A>T c.753A>T c.4793A>T (p.Glu1598Val) c.4034-4128A>T (n.4034-4128A>T) c.3428A>T (p.Glu1143Val) c.5342A>T (p.Glu1781Val) c.3488-4128A>T (n.3488-4128A>T) c.5069A>T (p.Glu1690Val) c.4523A>T (p.Glu1508Val) c.4580-4128A>T (n.4580-4128A>T) c.4250A>T (p.Glu1417Val) c.3761-4128A>T (n.3761-4128A>T) c.3701A>T (p.Glu1234Val) c.5615A>T (p.Glu1872Val) c.5339A>T (p.Glu1780Val) | |
9 | g.115046469T>C | CA374630711 | TNC | c.318-4128A>G c.3215-4128A>G (n.3215-4128A>G) c.3977A>G (p.Glu1326Gly) c.2009A>G (p.Glu670Gly) c.665A>G (p.Glu222Gly) c.4024A>G c.5066A>G (p.Glu1689Gly) c.4520A>G (p.Glu1507Gly) c.4307-4128A>G (n.4307-4128A>G) n.384A>G n.253-4128A>G n.40-4128A>G c.753A>G c.4793A>G (p.Glu1598Gly) c.4034-4128A>G (n.4034-4128A>G) c.3428A>G (p.Glu1143Gly) c.5342A>G (p.Glu1781Gly) c.3488-4128A>G (n.3488-4128A>G) c.5069A>G (p.Glu1690Gly) c.4523A>G (p.Glu1508Gly) c.4580-4128A>G (n.4580-4128A>G) c.4250A>G (p.Glu1417Gly) c.3761-4128A>G (n.3761-4128A>G) c.3701A>G (p.Glu1234Gly) c.5615A>G (p.Glu1872Gly) c.5339A>G (p.Glu1780Gly) | |
9 | g.115046469T>G | CA374630713 | TNC | c.318-4128A>C c.3215-4128A>C (n.3215-4128A>C) c.3977A>C (p.Glu1326Ala) c.2009A>C (p.Glu670Ala) c.665A>C (p.Glu222Ala) c.4024A>C c.5066A>C (p.Glu1689Ala) c.4520A>C (p.Glu1507Ala) c.4307-4128A>C (n.4307-4128A>C) n.384A>C n.253-4128A>C n.40-4128A>C c.753A>C c.4793A>C (p.Glu1598Ala) c.4034-4128A>C (n.4034-4128A>C) c.3428A>C (p.Glu1143Ala) c.5342A>C (p.Glu1781Ala) c.3488-4128A>C (n.3488-4128A>C) c.5069A>C (p.Glu1690Ala) c.4523A>C (p.Glu1508Ala) c.4580-4128A>C (n.4580-4128A>C) c.4250A>C (p.Glu1417Ala) c.3761-4128A>C (n.3761-4128A>C) c.3701A>C (p.Glu1234Ala) c.5615A>C (p.Glu1872Ala) c.5339A>C (p.Glu1780Ala) | |
9 | g.115046470C>A | CA374630717 | TNC | c.318-4129G>T c.3215-4129G>T (n.3215-4129G>T) c.3976G>T (p.Glu1326Ter) c.2008G>T (p.Glu670Ter) c.664G>T (p.Glu222Ter) c.4023G>T c.5065G>T (p.Glu1689Ter) c.4519G>T (p.Glu1507Ter) c.4307-4129G>T (n.4307-4129G>T) n.383G>T n.253-4129G>T n.40-4129G>T c.752G>T c.4792G>T (p.Glu1598Ter) c.4034-4129G>T (n.4034-4129G>T) c.3427G>T (p.Glu1143Ter) c.5341G>T (p.Glu1781Ter) c.3488-4129G>T (n.3488-4129G>T) c.5068G>T (p.Glu1690Ter) c.4522G>T (p.Glu1508Ter) c.4580-4129G>T (n.4580-4129G>T) c.4249G>T (p.Glu1417Ter) c.3761-4129G>T (n.3761-4129G>T) c.3700G>T (p.Glu1234Ter) c.5614G>T (p.Glu1872Ter) c.5338G>T (p.Glu1780Ter) | COSMIC |
9 | g.115046470C>G | CA374630719 | TNC | c.318-4129G>C c.3215-4129G>C (n.3215-4129G>C) c.3976G>C (p.Glu1326Gln) c.2008G>C (p.Glu670Gln) c.664G>C (p.Glu222Gln) c.4023G>C c.5065G>C (p.Glu1689Gln) c.4519G>C (p.Glu1507Gln) c.4307-4129G>C (n.4307-4129G>C) n.383G>C n.253-4129G>C n.40-4129G>C c.752G>C c.4792G>C (p.Glu1598Gln) c.4034-4129G>C (n.4034-4129G>C) c.3427G>C (p.Glu1143Gln) c.5341G>C (p.Glu1781Gln) c.3488-4129G>C (n.3488-4129G>C) c.5068G>C (p.Glu1690Gln) c.4522G>C (p.Glu1508Gln) c.4580-4129G>C (n.4580-4129G>C) c.4249G>C (p.Glu1417Gln) c.3761-4129G>C (n.3761-4129G>C) c.3700G>C (p.Glu1234Gln) c.5614G>C (p.Glu1872Gln) c.5338G>C (p.Glu1780Gln) | |
9 | g.115046470C>T | CA374630721 | TNC | c.318-4129G>A c.3215-4129G>A (n.3215-4129G>A) c.3976G>A (p.Glu1326Lys) c.2008G>A (p.Glu670Lys) c.664G>A (p.Glu222Lys) c.4023G>A c.5065G>A (p.Glu1689Lys) c.4519G>A (p.Glu1507Lys) c.4307-4129G>A (n.4307-4129G>A) n.383G>A n.253-4129G>A n.40-4129G>A c.752G>A c.4792G>A (p.Glu1598Lys) c.4034-4129G>A (n.4034-4129G>A) c.3427G>A (p.Glu1143Lys) c.5341G>A (p.Glu1781Lys) c.3488-4129G>A (n.3488-4129G>A) c.5068G>A (p.Glu1690Lys) c.4522G>A (p.Glu1508Lys) c.4580-4129G>A (n.4580-4129G>A) c.4249G>A (p.Glu1417Lys) c.3761-4129G>A (n.3761-4129G>A) c.3700G>A (p.Glu1234Lys) c.5614G>A (p.Glu1872Lys) c.5338G>A (p.Glu1780Lys) | gnomAD v4 COSMIC |
9 | g.115046471A>C | CA374630722 | TNC | c.318-4130T>G c.3215-4130T>G (n.3215-4130T>G) c.3975T>G (p.Ile1325Met) c.2007T>G (p.Ile669Met) c.663T>G (p.Ile221Met) c.4022T>G c.5064T>G (p.Ile1688Met) c.4518T>G (p.Ile1506Met) c.4307-4130T>G (n.4307-4130T>G) n.382T>G n.253-4130T>G n.40-4130T>G c.751T>G c.4791T>G (p.Ile1597Met) c.4034-4130T>G (n.4034-4130T>G) c.3426T>G (p.Ile1142Met) c.5340T>G (p.Ile1780Met) c.3488-4130T>G (n.3488-4130T>G) c.5067T>G (p.Ile1689Met) c.4521T>G (p.Ile1507Met) c.4580-4130T>G (n.4580-4130T>G) c.4248T>G (p.Ile1416Met) c.3761-4130T>G (n.3761-4130T>G) c.3699T>G (p.Ile1233Met) c.5613T>G (p.Ile1871Met) c.5337T>G (p.Ile1779Met) | |
9 | g.115046471A>G | CA466912375 | TNC | c.318-4130T>C c.3215-4130T>C (n.3215-4130T>C) c.3975T>C (p.Ile1325=) c.2007T>C (p.Ile669=) c.663T>C (p.Ile221=) c.4022T>C c.5064T>C (p.Ile1688=) c.4518T>C (p.Ile1506=) c.4307-4130T>C (n.4307-4130T>C) n.382T>C n.253-4130T>C n.40-4130T>C c.751T>C c.4791T>C (p.Ile1597=) c.4034-4130T>C (n.4034-4130T>C) c.3426T>C (p.Ile1142=) c.5340T>C (p.Ile1780=) c.3488-4130T>C (n.3488-4130T>C) c.5067T>C (p.Ile1689=) c.4521T>C (p.Ile1507=) c.4580-4130T>C (n.4580-4130T>C) c.4248T>C (p.Ile1416=) c.3761-4130T>C (n.3761-4130T>C) c.3699T>C (p.Ile1233=) c.5613T>C (p.Ile1871=) c.5337T>C (p.Ile1779=) | |
9 | g.115046471A>T | CA466912376 | TNC | c.318-4130T>A c.3215-4130T>A (n.3215-4130T>A) c.3975T>A (p.Ile1325=) c.2007T>A (p.Ile669=) c.663T>A (p.Ile221=) c.4022T>A c.5064T>A (p.Ile1688=) c.4518T>A (p.Ile1506=) c.4307-4130T>A (n.4307-4130T>A) n.382T>A n.253-4130T>A n.40-4130T>A c.751T>A c.4791T>A (p.Ile1597=) c.4034-4130T>A (n.4034-4130T>A) c.3426T>A (p.Ile1142=) c.5340T>A (p.Ile1780=) c.3488-4130T>A (n.3488-4130T>A) c.5067T>A (p.Ile1689=) c.4521T>A (p.Ile1507=) c.4580-4130T>A (n.4580-4130T>A) c.4248T>A (p.Ile1416=) c.3761-4130T>A (n.3761-4130T>A) c.3699T>A (p.Ile1233=) c.5613T>A (p.Ile1871=) c.5337T>A (p.Ile1779=) | |
9 | g.115046472A= | CA1874118881 | TNC | c.318-4131T= c.3215-4131T= (n.3215-4131T=) c.3974T= (p.Ile1325=) c.2006T= (p.Ile669=) c.662T= (p.Ile221=) c.4021T= c.5063T= (p.Ile1688=) c.4517T= (p.Ile1506=) c.4307-4131T= (n.4307-4131T=) n.381T= n.253-4131T= n.40-4131T= c.750T= c.4790T= (p.Ile1597=) c.4034-4131T= (n.4034-4131T=) c.3425T= (p.Ile1142=) c.5339T= (p.Ile1780=) c.3488-4131T= (n.3488-4131T=) c.5066T= (p.Ile1689=) c.4520T= (p.Ile1507=) c.4580-4131T= (n.4580-4131T=) c.4247T= (p.Ile1416=) c.3761-4131T= (n.3761-4131T=) c.3698T= (p.Ile1233=) c.5612T= (p.Ile1871=) c.5336T= (p.Ile1779=) | |
9 | g.115046472A>C | CA374630724 | TNC | c.318-4131T>G c.3215-4131T>G (n.3215-4131T>G) c.3974T>G (p.Ile1325Ser) c.2006T>G (p.Ile669Ser) c.662T>G (p.Ile221Ser) c.4021T>G c.5063T>G (p.Ile1688Ser) c.4517T>G (p.Ile1506Ser) c.4307-4131T>G (n.4307-4131T>G) n.381T>G n.253-4131T>G n.40-4131T>G c.750T>G c.4790T>G (p.Ile1597Ser) c.4034-4131T>G (n.4034-4131T>G) c.3425T>G (p.Ile1142Ser) c.5339T>G (p.Ile1780Ser) c.3488-4131T>G (n.3488-4131T>G) c.5066T>G (p.Ile1689Ser) c.4520T>G (p.Ile1507Ser) c.4580-4131T>G (n.4580-4131T>G) c.4247T>G (p.Ile1416Ser) c.3761-4131T>G (n.3761-4131T>G) c.3698T>G (p.Ile1233Ser) c.5612T>G (p.Ile1871Ser) c.5336T>G (p.Ile1779Ser) | |
9 | g.115046472A>G | CA5207765 | TNC | c.318-4131T>C c.3215-4131T>C (n.3215-4131T>C) c.3974T>C (p.Ile1325Thr) c.2006T>C (p.Ile669Thr) c.662T>C (p.Ile221Thr) c.4021T>C c.5063T>C (p.Ile1688Thr) c.4517T>C (p.Ile1506Thr) c.4307-4131T>C (n.4307-4131T>C) n.381T>C n.253-4131T>C n.40-4131T>C c.750T>C c.4790T>C (p.Ile1597Thr) c.4034-4131T>C (n.4034-4131T>C) c.3425T>C (p.Ile1142Thr) c.5339T>C (p.Ile1780Thr) c.3488-4131T>C (n.3488-4131T>C) c.5066T>C (p.Ile1689Thr) c.4520T>C (p.Ile1507Thr) c.4580-4131T>C (n.4580-4131T>C) c.4247T>C (p.Ile1416Thr) c.3761-4131T>C (n.3761-4131T>C) c.3698T>C (p.Ile1233Thr) c.5612T>C (p.Ile1871Thr) c.5336T>C (p.Ile1779Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.115046472A>T | CA374630725 | TNC | c.318-4131T>A c.3215-4131T>A (n.3215-4131T>A) c.3974T>A (p.Ile1325Asn) c.2006T>A (p.Ile669Asn) c.662T>A (p.Ile221Asn) c.4021T>A c.5063T>A (p.Ile1688Asn) c.4517T>A (p.Ile1506Asn) c.4307-4131T>A (n.4307-4131T>A) n.381T>A n.253-4131T>A n.40-4131T>A c.750T>A c.4790T>A (p.Ile1597Asn) c.4034-4131T>A (n.4034-4131T>A) c.3425T>A (p.Ile1142Asn) c.5339T>A (p.Ile1780Asn) c.3488-4131T>A (n.3488-4131T>A) c.5066T>A (p.Ile1689Asn) c.4520T>A (p.Ile1507Asn) c.4580-4131T>A (n.4580-4131T>A) c.4247T>A (p.Ile1416Asn) c.3761-4131T>A (n.3761-4131T>A) c.3698T>A (p.Ile1233Asn) c.5612T>A (p.Ile1871Asn) c.5336T>A (p.Ile1779Asn) | |
9 | g.115046473T>A | CA374630728 | TNC | c.318-4132A>T c.3215-4132A>T (n.3215-4132A>T) c.3973A>T (p.Ile1325Phe) c.2005A>T (p.Ile669Phe) c.661A>T (p.Ile221Phe) c.4020A>T c.5062A>T (p.Ile1688Phe) c.4516A>T (p.Ile1506Phe) c.4307-4132A>T (n.4307-4132A>T) n.380A>T n.253-4132A>T n.40-4132A>T c.749A>T c.4789A>T (p.Ile1597Phe) c.4034-4132A>T (n.4034-4132A>T) c.3424A>T (p.Ile1142Phe) c.5338A>T (p.Ile1780Phe) c.3488-4132A>T (n.3488-4132A>T) c.5065A>T (p.Ile1689Phe) c.4519A>T (p.Ile1507Phe) c.4580-4132A>T (n.4580-4132A>T) c.4246A>T (p.Ile1416Phe) c.3761-4132A>T (n.3761-4132A>T) c.3697A>T (p.Ile1233Phe) c.5611A>T (p.Ile1871Phe) c.5335A>T (p.Ile1779Phe) | |
9 | g.115046473T>C | CA5207766 | TNC | c.318-4132A>G c.3215-4132A>G (n.3215-4132A>G) c.3973A>G (p.Ile1325Val) c.2005A>G (p.Ile669Val) c.661A>G (p.Ile221Val) c.4020A>G c.5062A>G (p.Ile1688Val) c.4516A>G (p.Ile1506Val) c.4307-4132A>G (n.4307-4132A>G) n.380A>G n.253-4132A>G n.40-4132A>G c.749A>G c.4789A>G (p.Ile1597Val) c.4034-4132A>G (n.4034-4132A>G) c.3424A>G (p.Ile1142Val) c.5338A>G (p.Ile1780Val) c.3488-4132A>G (n.3488-4132A>G) c.5065A>G (p.Ile1689Val) c.4519A>G (p.Ile1507Val) c.4580-4132A>G (n.4580-4132A>G) c.4246A>G (p.Ile1416Val) c.3761-4132A>G (n.3761-4132A>G) c.3697A>G (p.Ile1233Val) c.5611A>G (p.Ile1871Val) c.5335A>G (p.Ile1779Val) | dbSNP ExAC gnomAD v2 |
9 | g.115046473T>G | CA374630731 | TNC | c.318-4132A>C c.3215-4132A>C (n.3215-4132A>C) c.3973A>C (p.Ile1325Leu) c.2005A>C (p.Ile669Leu) c.661A>C (p.Ile221Leu) c.4020A>C c.5062A>C (p.Ile1688Leu) c.4516A>C (p.Ile1506Leu) c.4307-4132A>C (n.4307-4132A>C) n.380A>C n.253-4132A>C n.40-4132A>C c.749A>C c.4789A>C (p.Ile1597Leu) c.4034-4132A>C (n.4034-4132A>C) c.3424A>C (p.Ile1142Leu) c.5338A>C (p.Ile1780Leu) c.3488-4132A>C (n.3488-4132A>C) c.5065A>C (p.Ile1689Leu) c.4519A>C (p.Ile1507Leu) c.4580-4132A>C (n.4580-4132A>C) c.4246A>C (p.Ile1416Leu) c.3761-4132A>C (n.3761-4132A>C) c.3697A>C (p.Ile1233Leu) c.5611A>C (p.Ile1871Leu) c.5335A>C (p.Ile1779Leu) | |
9 | g.115046473T= | CA1874118882 | TNC | c.318-4132A= c.3215-4132A= (n.3215-4132A=) c.3973A= (p.Ile1325=) c.2005A= (p.Ile669=) c.661A= (p.Ile221=) c.4020A= c.5062A= (p.Ile1688=) c.4516A= (p.Ile1506=) c.4307-4132A= (n.4307-4132A=) n.380A= n.253-4132A= n.40-4132A= c.749A= c.4789A= (p.Ile1597=) c.4034-4132A= (n.4034-4132A=) c.3424A= (p.Ile1142=) c.5338A= (p.Ile1780=) c.3488-4132A= (n.3488-4132A=) c.5065A= (p.Ile1689=) c.4519A= (p.Ile1507=) c.4580-4132A= (n.4580-4132A=) c.4246A= (p.Ile1416=) c.3761-4132A= (n.3761-4132A=) c.3697A= (p.Ile1233=) c.5611A= (p.Ile1871=) c.5335A= (p.Ile1779=) | |
9 | g.115046474T>A | CA374630735 | TNC | c.318-4133A>T c.3215-4133A>T (n.3215-4133A>T) c.3972A>T (p.Glu1324Asp) c.2004A>T (p.Glu668Asp) c.660A>T (p.Glu220Asp) c.4019A>T c.5061A>T (p.Glu1687Asp) c.4515A>T (p.Glu1505Asp) c.4307-4133A>T (n.4307-4133A>T) n.379A>T n.253-4133A>T n.40-4133A>T c.748A>T c.4788A>T (p.Glu1596Asp) c.4034-4133A>T (n.4034-4133A>T) c.3423A>T (p.Glu1141Asp) c.5337A>T (p.Glu1779Asp) c.3488-4133A>T (n.3488-4133A>T) c.5064A>T (p.Glu1688Asp) c.4518A>T (p.Glu1506Asp) c.4580-4133A>T (n.4580-4133A>T) c.4245A>T (p.Glu1415Asp) c.3761-4133A>T (n.3761-4133A>T) c.3696A>T (p.Glu1232Asp) c.5610A>T (p.Glu1870Asp) c.5334A>T (p.Glu1778Asp) | |
9 | g.115046474T>C | CA466912380 | TNC | c.318-4133A>G c.3215-4133A>G (n.3215-4133A>G) c.3972A>G (p.Glu1324=) c.2004A>G (p.Glu668=) c.660A>G (p.Glu220=) c.4019A>G c.5061A>G (p.Glu1687=) c.4515A>G (p.Glu1505=) c.4307-4133A>G (n.4307-4133A>G) n.379A>G n.253-4133A>G n.40-4133A>G c.748A>G c.4788A>G (p.Glu1596=) c.4034-4133A>G (n.4034-4133A>G) c.3423A>G (p.Glu1141=) c.5337A>G (p.Glu1779=) c.3488-4133A>G (n.3488-4133A>G) c.5064A>G (p.Glu1688=) c.4518A>G (p.Glu1506=) c.4580-4133A>G (n.4580-4133A>G) c.4245A>G (p.Glu1415=) c.3761-4133A>G (n.3761-4133A>G) c.3696A>G (p.Glu1232=) c.5610A>G (p.Glu1870=) c.5334A>G (p.Glu1778=) | |
9 | g.115046474T>G | CA374630733 | TNC | c.318-4133A>C c.3215-4133A>C (n.3215-4133A>C) c.3972A>C (p.Glu1324Asp) c.2004A>C (p.Glu668Asp) c.660A>C (p.Glu220Asp) c.4019A>C c.5061A>C (p.Glu1687Asp) c.4515A>C (p.Glu1505Asp) c.4307-4133A>C (n.4307-4133A>C) n.379A>C n.253-4133A>C n.40-4133A>C c.748A>C c.4788A>C (p.Glu1596Asp) c.4034-4133A>C (n.4034-4133A>C) c.3423A>C (p.Glu1141Asp) c.5337A>C (p.Glu1779Asp) c.3488-4133A>C (n.3488-4133A>C) c.5064A>C (p.Glu1688Asp) c.4518A>C (p.Glu1506Asp) c.4580-4133A>C (n.4580-4133A>C) c.4245A>C (p.Glu1415Asp) c.3761-4133A>C (n.3761-4133A>C) c.3696A>C (p.Glu1232Asp) c.5610A>C (p.Glu1870Asp) c.5334A>C (p.Glu1778Asp) | |
9 | g.115046475T>A | CA374630736 | TNC | c.318-4134A>T c.3215-4134A>T (n.3215-4134A>T) c.3971A>T (p.Glu1324Val) c.2003A>T (p.Glu668Val) c.659A>T (p.Glu220Val) c.4018A>T c.5060A>T (p.Glu1687Val) c.4514A>T (p.Glu1505Val) c.4307-4134A>T (n.4307-4134A>T) n.378A>T n.253-4134A>T n.40-4134A>T c.747A>T c.4787A>T (p.Glu1596Val) c.4034-4134A>T (n.4034-4134A>T) c.3422A>T (p.Glu1141Val) c.5336A>T (p.Glu1779Val) c.3488-4134A>T (n.3488-4134A>T) c.5063A>T (p.Glu1688Val) c.4517A>T (p.Glu1506Val) c.4580-4134A>T (n.4580-4134A>T) c.4244A>T (p.Glu1415Val) c.3761-4134A>T (n.3761-4134A>T) c.3695A>T (p.Glu1232Val) c.5609A>T (p.Glu1870Val) c.5333A>T (p.Glu1778Val) | |
9 | g.115046475T>C | CA374630739 | TNC | c.318-4134A>G c.3215-4134A>G (n.3215-4134A>G) c.3971A>G (p.Glu1324Gly) c.2003A>G (p.Glu668Gly) c.659A>G (p.Glu220Gly) c.4018A>G c.5060A>G (p.Glu1687Gly) c.4514A>G (p.Glu1505Gly) c.4307-4134A>G (n.4307-4134A>G) n.378A>G n.253-4134A>G n.40-4134A>G c.747A>G c.4787A>G (p.Glu1596Gly) c.4034-4134A>G (n.4034-4134A>G) c.3422A>G (p.Glu1141Gly) c.5336A>G (p.Glu1779Gly) c.3488-4134A>G (n.3488-4134A>G) c.5063A>G (p.Glu1688Gly) c.4517A>G (p.Glu1506Gly) c.4580-4134A>G (n.4580-4134A>G) c.4244A>G (p.Glu1415Gly) c.3761-4134A>G (n.3761-4134A>G) c.3695A>G (p.Glu1232Gly) c.5609A>G (p.Glu1870Gly) c.5333A>G (p.Glu1778Gly) | |
9 | g.115046475T>G | CA374630740 | TNC | c.318-4134A>C c.3215-4134A>C (n.3215-4134A>C) c.3971A>C (p.Glu1324Ala) c.2003A>C (p.Glu668Ala) c.659A>C (p.Glu220Ala) c.4018A>C c.5060A>C (p.Glu1687Ala) c.4514A>C (p.Glu1505Ala) c.4307-4134A>C (n.4307-4134A>C) n.378A>C n.253-4134A>C n.40-4134A>C c.747A>C c.4787A>C (p.Glu1596Ala) c.4034-4134A>C (n.4034-4134A>C) c.3422A>C (p.Glu1141Ala) c.5336A>C (p.Glu1779Ala) c.3488-4134A>C (n.3488-4134A>C) c.5063A>C (p.Glu1688Ala) c.4517A>C (p.Glu1506Ala) c.4580-4134A>C (n.4580-4134A>C) c.4244A>C (p.Glu1415Ala) c.3761-4134A>C (n.3761-4134A>C) c.3695A>C (p.Glu1232Ala) c.5609A>C (p.Glu1870Ala) c.5333A>C (p.Glu1778Ala) | |
9 | g.115046476C>A | CA374630742 | TNC | c.318-4135G>T c.3215-4135G>T (n.3215-4135G>T) c.3970G>T (p.Glu1324Ter) c.2002G>T (p.Glu668Ter) c.658G>T (p.Glu220Ter) c.4017G>T c.5059G>T (p.Glu1687Ter) c.4513G>T (p.Glu1505Ter) c.4307-4135G>T (n.4307-4135G>T) n.377G>T n.253-4135G>T n.40-4135G>T c.746G>T c.4786G>T (p.Glu1596Ter) c.4034-4135G>T (n.4034-4135G>T) c.3421G>T (p.Glu1141Ter) c.5335G>T (p.Glu1779Ter) c.3488-4135G>T (n.3488-4135G>T) c.5062G>T (p.Glu1688Ter) c.4516G>T (p.Glu1506Ter) c.4580-4135G>T (n.4580-4135G>T) c.4243G>T (p.Glu1415Ter) c.3761-4135G>T (n.3761-4135G>T) c.3694G>T (p.Glu1232Ter) c.5608G>T (p.Glu1870Ter) c.5332G>T (p.Glu1778Ter) | gnomAD v4 |
9 | g.115046476C>G | CA374630744 | TNC | c.318-4135G>C c.3215-4135G>C (n.3215-4135G>C) c.3970G>C (p.Glu1324Gln) c.2002G>C (p.Glu668Gln) c.658G>C (p.Glu220Gln) c.4017G>C c.5059G>C (p.Glu1687Gln) c.4513G>C (p.Glu1505Gln) c.4307-4135G>C (n.4307-4135G>C) n.377G>C n.253-4135G>C n.40-4135G>C c.746G>C c.4786G>C (p.Glu1596Gln) c.4034-4135G>C (n.4034-4135G>C) c.3421G>C (p.Glu1141Gln) c.5335G>C (p.Glu1779Gln) c.3488-4135G>C (n.3488-4135G>C) c.5062G>C (p.Glu1688Gln) c.4516G>C (p.Glu1506Gln) c.4580-4135G>C (n.4580-4135G>C) c.4243G>C (p.Glu1415Gln) c.3761-4135G>C (n.3761-4135G>C) c.3694G>C (p.Glu1232Gln) c.5608G>C (p.Glu1870Gln) c.5332G>C (p.Glu1778Gln) | |
9 | g.115046476C>T | CA374630746 | TNC | c.318-4135G>A c.3215-4135G>A (n.3215-4135G>A) c.3970G>A (p.Glu1324Lys) c.2002G>A (p.Glu668Lys) c.658G>A (p.Glu220Lys) c.4017G>A c.5059G>A (p.Glu1687Lys) c.4513G>A (p.Glu1505Lys) c.4307-4135G>A (n.4307-4135G>A) n.377G>A n.253-4135G>A n.40-4135G>A c.746G>A c.4786G>A (p.Glu1596Lys) c.4034-4135G>A (n.4034-4135G>A) c.3421G>A (p.Glu1141Lys) c.5335G>A (p.Glu1779Lys) c.3488-4135G>A (n.3488-4135G>A) c.5062G>A (p.Glu1688Lys) c.4516G>A (p.Glu1506Lys) c.4580-4135G>A (n.4580-4135G>A) c.4243G>A (p.Glu1415Lys) c.3761-4135G>A (n.3761-4135G>A) c.3694G>A (p.Glu1232Lys) c.5608G>A (p.Glu1870Lys) c.5332G>A (p.Glu1778Lys) | gnomAD v4 COSMIC |
9 | g.115046477G>A | CA466912383 | TNC | c.318-4136C>T c.3215-4136C>T (n.3215-4136C>T) c.3969C>T (p.Tyr1323=) c.2001C>T (p.Tyr667=) c.657C>T (p.Tyr219=) c.4016C>T c.5058C>T (p.Tyr1686=) c.4512C>T (p.Tyr1504=) c.4307-4136C>T (n.4307-4136C>T) n.376C>T n.253-4136C>T n.40-4136C>T c.745C>T c.4785C>T (p.Tyr1595=) c.4034-4136C>T (n.4034-4136C>T) c.3420C>T (p.Tyr1140=) c.5334C>T (p.Tyr1778=) c.3488-4136C>T (n.3488-4136C>T) c.5061C>T (p.Tyr1687=) c.4515C>T (p.Tyr1505=) c.4580-4136C>T (n.4580-4136C>T) c.4242C>T (p.Tyr1414=) c.3761-4136C>T (n.3761-4136C>T) c.3693C>T (p.Tyr1231=) c.5607C>T (p.Tyr1869=) c.5331C>T (p.Tyr1777=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
9 | g.115046477G>C | CA374630748 | TNC | c.318-4136C>G c.3215-4136C>G (n.3215-4136C>G) c.3969C>G (p.Tyr1323Ter) c.2001C>G (p.Tyr667Ter) c.657C>G (p.Tyr219Ter) c.4016C>G c.5058C>G (p.Tyr1686Ter) c.4512C>G (p.Tyr1504Ter) c.4307-4136C>G (n.4307-4136C>G) n.376C>G n.253-4136C>G n.40-4136C>G c.745C>G c.4785C>G (p.Tyr1595Ter) c.4034-4136C>G (n.4034-4136C>G) c.3420C>G (p.Tyr1140Ter) c.5334C>G (p.Tyr1778Ter) c.3488-4136C>G (n.3488-4136C>G) c.5061C>G (p.Tyr1687Ter) c.4515C>G (p.Tyr1505Ter) c.4580-4136C>G (n.4580-4136C>G) c.4242C>G (p.Tyr1414Ter) c.3761-4136C>G (n.3761-4136C>G) c.3693C>G (p.Tyr1231Ter) c.5607C>G (p.Tyr1869Ter) c.5331C>G (p.Tyr1777Ter) | |
9 | g.115046477G= | CA1874118883 | TNC | c.318-4136C= c.3215-4136C= (n.3215-4136C=) c.3969C= (p.Tyr1323=) c.2001C= (p.Tyr667=) c.657C= (p.Tyr219=) c.4016C= c.5058C= (p.Tyr1686=) c.4512C= (p.Tyr1504=) c.4307-4136C= (n.4307-4136C=) n.376C= n.253-4136C= n.40-4136C= c.745C= c.4785C= (p.Tyr1595=) c.4034-4136C= (n.4034-4136C=) c.3420C= (p.Tyr1140=) c.5334C= (p.Tyr1778=) c.3488-4136C= (n.3488-4136C=) c.5061C= (p.Tyr1687=) c.4515C= (p.Tyr1505=) c.4580-4136C= (n.4580-4136C=) c.4242C= (p.Tyr1414=) c.3761-4136C= (n.3761-4136C=) c.3693C= (p.Tyr1231=) c.5607C= (p.Tyr1869=) c.5331C= (p.Tyr1777=) | |
9 | g.115046477G>T | CA374630749 | TNC | c.318-4136C>A c.3215-4136C>A (n.3215-4136C>A) c.3969C>A (p.Tyr1323Ter) c.2001C>A (p.Tyr667Ter) c.657C>A (p.Tyr219Ter) c.4016C>A c.5058C>A (p.Tyr1686Ter) c.4512C>A (p.Tyr1504Ter) c.4307-4136C>A (n.4307-4136C>A) n.376C>A n.253-4136C>A n.40-4136C>A c.745C>A c.4785C>A (p.Tyr1595Ter) c.4034-4136C>A (n.4034-4136C>A) c.3420C>A (p.Tyr1140Ter) c.5334C>A (p.Tyr1778Ter) c.3488-4136C>A (n.3488-4136C>A) c.5061C>A (p.Tyr1687Ter) c.4515C>A (p.Tyr1505Ter) c.4580-4136C>A (n.4580-4136C>A) c.4242C>A (p.Tyr1414Ter) c.3761-4136C>A (n.3761-4136C>A) c.3693C>A (p.Tyr1231Ter) c.5607C>A (p.Tyr1869Ter) c.5331C>A (p.Tyr1777Ter) | dbSNP |
9 | g.115046478T>A | CA374630751 | TNC | c.318-4137A>T c.3215-4137A>T (n.3215-4137A>T) c.3968A>T (p.Tyr1323Phe) c.2000A>T (p.Tyr667Phe) c.656A>T (p.Tyr219Phe) c.4015A>T c.5057A>T (p.Tyr1686Phe) c.4511A>T (p.Tyr1504Phe) c.4307-4137A>T (n.4307-4137A>T) n.375A>T n.253-4137A>T n.40-4137A>T c.744A>T c.4784A>T (p.Tyr1595Phe) c.4034-4137A>T (n.4034-4137A>T) c.3419A>T (p.Tyr1140Phe) c.5333A>T (p.Tyr1778Phe) c.3488-4137A>T (n.3488-4137A>T) c.5060A>T (p.Tyr1687Phe) c.4514A>T (p.Tyr1505Phe) c.4580-4137A>T (n.4580-4137A>T) c.4241A>T (p.Tyr1414Phe) c.3761-4137A>T (n.3761-4137A>T) c.3692A>T (p.Tyr1231Phe) c.5606A>T (p.Tyr1869Phe) c.5330A>T (p.Tyr1777Phe) | COSMIC |
9 | g.115046478T>C | CA374630753 | TNC | c.318-4137A>G c.3215-4137A>G (n.3215-4137A>G) c.3968A>G (p.Tyr1323Cys) c.2000A>G (p.Tyr667Cys) c.656A>G (p.Tyr219Cys) c.4015A>G c.5057A>G (p.Tyr1686Cys) c.4511A>G (p.Tyr1504Cys) c.4307-4137A>G (n.4307-4137A>G) n.375A>G n.253-4137A>G n.40-4137A>G c.744A>G c.4784A>G (p.Tyr1595Cys) c.4034-4137A>G (n.4034-4137A>G) c.3419A>G (p.Tyr1140Cys) c.5333A>G (p.Tyr1778Cys) c.3488-4137A>G (n.3488-4137A>G) c.5060A>G (p.Tyr1687Cys) c.4514A>G (p.Tyr1505Cys) c.4580-4137A>G (n.4580-4137A>G) c.4241A>G (p.Tyr1414Cys) c.3761-4137A>G (n.3761-4137A>G) c.3692A>G (p.Tyr1231Cys) c.5606A>G (p.Tyr1869Cys) c.5330A>G (p.Tyr1777Cys) | |
9 | g.115046478T>G | CA374630755 | TNC | c.318-4137A>C c.3215-4137A>C (n.3215-4137A>C) c.3968A>C (p.Tyr1323Ser) c.2000A>C (p.Tyr667Ser) c.656A>C (p.Tyr219Ser) c.4015A>C c.5057A>C (p.Tyr1686Ser) c.4511A>C (p.Tyr1504Ser) c.4307-4137A>C (n.4307-4137A>C) n.375A>C n.253-4137A>C n.40-4137A>C c.744A>C c.4784A>C (p.Tyr1595Ser) c.4034-4137A>C (n.4034-4137A>C) c.3419A>C (p.Tyr1140Ser) c.5333A>C (p.Tyr1778Ser) c.3488-4137A>C (n.3488-4137A>C) c.5060A>C (p.Tyr1687Ser) c.4514A>C (p.Tyr1505Ser) c.4580-4137A>C (n.4580-4137A>C) c.4241A>C (p.Tyr1414Ser) c.3761-4137A>C (n.3761-4137A>C) c.3692A>C (p.Tyr1231Ser) c.5606A>C (p.Tyr1869Ser) c.5330A>C (p.Tyr1777Ser) | |
9 | g.115046479A>C | CA374630757 | TNC | c.318-4138T>G c.3215-4138T>G (n.3215-4138T>G) c.3967T>G (p.Tyr1323Asp) c.1999T>G (p.Tyr667Asp) c.655T>G (p.Tyr219Asp) c.4014T>G c.5056T>G (p.Tyr1686Asp) c.4510T>G (p.Tyr1504Asp) c.4307-4138T>G (n.4307-4138T>G) n.374T>G n.253-4138T>G n.40-4138T>G c.743T>G c.4783T>G (p.Tyr1595Asp) c.4034-4138T>G (n.4034-4138T>G) c.3418T>G (p.Tyr1140Asp) c.5332T>G (p.Tyr1778Asp) c.3488-4138T>G (n.3488-4138T>G) c.5059T>G (p.Tyr1687Asp) c.4513T>G (p.Tyr1505Asp) c.4580-4138T>G (n.4580-4138T>G) c.4240T>G (p.Tyr1414Asp) c.3761-4138T>G (n.3761-4138T>G) c.3691T>G (p.Tyr1231Asp) c.5605T>G (p.Tyr1869Asp) c.5329T>G (p.Tyr1777Asp) | |
9 | g.115046479A>G | CA374630759 | TNC | c.318-4138T>C c.3215-4138T>C (n.3215-4138T>C) c.3967T>C (p.Tyr1323His) c.1999T>C (p.Tyr667His) c.655T>C (p.Tyr219His) c.4014T>C c.5056T>C (p.Tyr1686His) c.4510T>C (p.Tyr1504His) c.4307-4138T>C (n.4307-4138T>C) n.374T>C n.253-4138T>C n.40-4138T>C c.743T>C c.4783T>C (p.Tyr1595His) c.4034-4138T>C (n.4034-4138T>C) c.3418T>C (p.Tyr1140His) c.5332T>C (p.Tyr1778His) c.3488-4138T>C (n.3488-4138T>C) c.5059T>C (p.Tyr1687His) c.4513T>C (p.Tyr1505His) c.4580-4138T>C (n.4580-4138T>C) c.4240T>C (p.Tyr1414His) c.3761-4138T>C (n.3761-4138T>C) c.3691T>C (p.Tyr1231His) c.5605T>C (p.Tyr1869His) c.5329T>C (p.Tyr1777His) | |
9 | g.115046479A>T | CA374630761 | TNC | c.318-4138T>A c.3215-4138T>A (n.3215-4138T>A) c.3967T>A (p.Tyr1323Asn) c.1999T>A (p.Tyr667Asn) c.655T>A (p.Tyr219Asn) c.4014T>A c.5056T>A (p.Tyr1686Asn) c.4510T>A (p.Tyr1504Asn) c.4307-4138T>A (n.4307-4138T>A) n.374T>A n.253-4138T>A n.40-4138T>A c.743T>A c.4783T>A (p.Tyr1595Asn) c.4034-4138T>A (n.4034-4138T>A) c.3418T>A (p.Tyr1140Asn) c.5332T>A (p.Tyr1778Asn) c.3488-4138T>A (n.3488-4138T>A) c.5059T>A (p.Tyr1687Asn) c.4513T>A (p.Tyr1505Asn) c.4580-4138T>A (n.4580-4138T>A) c.4240T>A (p.Tyr1414Asn) c.3761-4138T>A (n.3761-4138T>A) c.3691T>A (p.Tyr1231Asn) c.5605T>A (p.Tyr1869Asn) c.5329T>A (p.Tyr1777Asn) | |
9 | g.115046480T>A | CA374630763 | TNC | c.318-4139A>T c.3215-4139A>T (n.3215-4139A>T) c.3966A>T (p.Glu1322Asp) c.1998A>T (p.Glu666Asp) c.654A>T (p.Glu218Asp) c.4013A>T c.5055A>T (p.Glu1685Asp) c.4509A>T (p.Glu1503Asp) c.4307-4139A>T (n.4307-4139A>T) n.373A>T n.253-4139A>T n.40-4139A>T c.742A>T c.4782A>T (p.Glu1594Asp) c.4034-4139A>T (n.4034-4139A>T) c.3417A>T (p.Glu1139Asp) c.5331A>T (p.Glu1777Asp) c.3488-4139A>T (n.3488-4139A>T) c.5058A>T (p.Glu1686Asp) c.4512A>T (p.Glu1504Asp) c.4580-4139A>T (n.4580-4139A>T) c.4239A>T (p.Glu1413Asp) c.3761-4139A>T (n.3761-4139A>T) c.3690A>T (p.Glu1230Asp) c.5604A>T (p.Glu1868Asp) c.5328A>T (p.Glu1776Asp) | |
9 | g.115046480T>C | CA466912386 | TNC | c.318-4139A>G c.3215-4139A>G (n.3215-4139A>G) c.3966A>G (p.Glu1322=) c.1998A>G (p.Glu666=) c.654A>G (p.Glu218=) c.4013A>G c.5055A>G (p.Glu1685=) c.4509A>G (p.Glu1503=) c.4307-4139A>G (n.4307-4139A>G) n.373A>G n.253-4139A>G n.40-4139A>G c.742A>G c.4782A>G (p.Glu1594=) c.4034-4139A>G (n.4034-4139A>G) c.3417A>G (p.Glu1139=) c.5331A>G (p.Glu1777=) c.3488-4139A>G (n.3488-4139A>G) c.5058A>G (p.Glu1686=) c.4512A>G (p.Glu1504=) c.4580-4139A>G (n.4580-4139A>G) c.4239A>G (p.Glu1413=) c.3761-4139A>G (n.3761-4139A>G) c.3690A>G (p.Glu1230=) c.5604A>G (p.Glu1868=) c.5328A>G (p.Glu1776=) | |
9 | g.115046480T>G | CA374630764 | TNC | c.318-4139A>C c.3215-4139A>C (n.3215-4139A>C) c.3966A>C (p.Glu1322Asp) c.1998A>C (p.Glu666Asp) c.654A>C (p.Glu218Asp) c.4013A>C c.5055A>C (p.Glu1685Asp) c.4509A>C (p.Glu1503Asp) c.4307-4139A>C (n.4307-4139A>C) n.373A>C n.253-4139A>C n.40-4139A>C c.742A>C c.4782A>C (p.Glu1594Asp) c.4034-4139A>C (n.4034-4139A>C) c.3417A>C (p.Glu1139Asp) c.5331A>C (p.Glu1777Asp) c.3488-4139A>C (n.3488-4139A>C) c.5058A>C (p.Glu1686Asp) c.4512A>C (p.Glu1504Asp) c.4580-4139A>C (n.4580-4139A>C) c.4239A>C (p.Glu1413Asp) c.3761-4139A>C (n.3761-4139A>C) c.3690A>C (p.Glu1230Asp) c.5604A>C (p.Glu1868Asp) c.5328A>C (p.Glu1776Asp) | |
9 | g.115046481T>A | CA374630766 | TNC | c.318-4140A>T c.3215-4140A>T (n.3215-4140A>T) c.3965A>T (p.Glu1322Val) c.1997A>T (p.Glu666Val) c.653A>T (p.Glu218Val) c.4012A>T c.5054A>T (p.Glu1685Val) c.4508A>T (p.Glu1503Val) c.4307-4140A>T (n.4307-4140A>T) n.372A>T n.253-4140A>T n.40-4140A>T c.741A>T c.4781A>T (p.Glu1594Val) c.4034-4140A>T (n.4034-4140A>T) c.3416A>T (p.Glu1139Val) c.5330A>T (p.Glu1777Val) c.3488-4140A>T (n.3488-4140A>T) c.5057A>T (p.Glu1686Val) c.4511A>T (p.Glu1504Val) c.4580-4140A>T (n.4580-4140A>T) c.4238A>T (p.Glu1413Val) c.3761-4140A>T (n.3761-4140A>T) c.3689A>T (p.Glu1230Val) c.5603A>T (p.Glu1868Val) c.5327A>T (p.Glu1776Val) | |
9 | g.115046481T>C | CA374630769 | TNC | c.318-4140A>G c.3215-4140A>G (n.3215-4140A>G) c.3965A>G (p.Glu1322Gly) c.1997A>G (p.Glu666Gly) c.653A>G (p.Glu218Gly) c.4012A>G c.5054A>G (p.Glu1685Gly) c.4508A>G (p.Glu1503Gly) c.4307-4140A>G (n.4307-4140A>G) n.372A>G n.253-4140A>G n.40-4140A>G c.741A>G c.4781A>G (p.Glu1594Gly) c.4034-4140A>G (n.4034-4140A>G) c.3416A>G (p.Glu1139Gly) c.5330A>G (p.Glu1777Gly) c.3488-4140A>G (n.3488-4140A>G) c.5057A>G (p.Glu1686Gly) c.4511A>G (p.Glu1504Gly) c.4580-4140A>G (n.4580-4140A>G) c.4238A>G (p.Glu1413Gly) c.3761-4140A>G (n.3761-4140A>G) c.3689A>G (p.Glu1230Gly) c.5603A>G (p.Glu1868Gly) c.5327A>G (p.Glu1776Gly) | |
9 | g.115046481T>G | CA374630770 | TNC | c.318-4140A>C c.3215-4140A>C (n.3215-4140A>C) c.3965A>C (p.Glu1322Ala) c.1997A>C (p.Glu666Ala) c.653A>C (p.Glu218Ala) c.4012A>C c.5054A>C (p.Glu1685Ala) c.4508A>C (p.Glu1503Ala) c.4307-4140A>C (n.4307-4140A>C) n.372A>C n.253-4140A>C n.40-4140A>C c.741A>C c.4781A>C (p.Glu1594Ala) c.4034-4140A>C (n.4034-4140A>C) c.3416A>C (p.Glu1139Ala) c.5330A>C (p.Glu1777Ala) c.3488-4140A>C (n.3488-4140A>C) c.5057A>C (p.Glu1686Ala) c.4511A>C (p.Glu1504Ala) c.4580-4140A>C (n.4580-4140A>C) c.4238A>C (p.Glu1413Ala) c.3761-4140A>C (n.3761-4140A>C) c.3689A>C (p.Glu1230Ala) c.5603A>C (p.Glu1868Ala) c.5327A>C (p.Glu1776Ala) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.115046481T= | CA1874118884 | TNC | c.318-4140A= c.3215-4140A= (n.3215-4140A=) c.3965A= (p.Glu1322=) c.1997A= (p.Glu666=) c.653A= (p.Glu218=) c.4012A= c.5054A= (p.Glu1685=) c.4508A= (p.Glu1503=) c.4307-4140A= (n.4307-4140A=) n.372A= n.253-4140A= n.40-4140A= c.741A= c.4781A= (p.Glu1594=) c.4034-4140A= (n.4034-4140A=) c.3416A= (p.Glu1139=) c.5330A= (p.Glu1777=) c.3488-4140A= (n.3488-4140A=) c.5057A= (p.Glu1686=) c.4511A= (p.Glu1504=) c.4580-4140A= (n.4580-4140A=) c.4238A= (p.Glu1413=) c.3761-4140A= (n.3761-4140A=) c.3689A= (p.Glu1230=) c.5603A= (p.Glu1868=) c.5327A= (p.Glu1776=) | |
9 | g.115046482C>A | CA374630773 | TNC | c.318-4141G>T c.3215-4141G>T (n.3215-4141G>T) c.3964G>T (p.Glu1322Ter) c.1996G>T (p.Glu666Ter) c.652G>T (p.Glu218Ter) c.4011G>T c.5053G>T (p.Glu1685Ter) c.4507G>T (p.Glu1503Ter) c.4307-4141G>T (n.4307-4141G>T) n.371G>T n.253-4141G>T n.40-4141G>T c.740G>T c.4780G>T (p.Glu1594Ter) c.4034-4141G>T (n.4034-4141G>T) c.3415G>T (p.Glu1139Ter) c.5329G>T (p.Glu1777Ter) c.3488-4141G>T (n.3488-4141G>T) c.5056G>T (p.Glu1686Ter) c.4510G>T (p.Glu1504Ter) c.4580-4141G>T (n.4580-4141G>T) c.4237G>T (p.Glu1413Ter) c.3761-4141G>T (n.3761-4141G>T) c.3688G>T (p.Glu1230Ter) c.5602G>T (p.Glu1868Ter) c.5326G>T (p.Glu1776Ter) | COSMIC |
9 | g.115046482C>G | CA374630775 | TNC | c.318-4141G>C c.3215-4141G>C (n.3215-4141G>C) c.3964G>C (p.Glu1322Gln) c.1996G>C (p.Glu666Gln) c.652G>C (p.Glu218Gln) c.4011G>C c.5053G>C (p.Glu1685Gln) c.4507G>C (p.Glu1503Gln) c.4307-4141G>C (n.4307-4141G>C) n.371G>C n.253-4141G>C n.40-4141G>C c.740G>C c.4780G>C (p.Glu1594Gln) c.4034-4141G>C (n.4034-4141G>C) c.3415G>C (p.Glu1139Gln) c.5329G>C (p.Glu1777Gln) c.3488-4141G>C (n.3488-4141G>C) c.5056G>C (p.Glu1686Gln) c.4510G>C (p.Glu1504Gln) c.4580-4141G>C (n.4580-4141G>C) c.4237G>C (p.Glu1413Gln) c.3761-4141G>C (n.3761-4141G>C) c.3688G>C (p.Glu1230Gln) c.5602G>C (p.Glu1868Gln) c.5326G>C (p.Glu1776Gln) | |
9 | g.115046482C>T | CA374630777 | TNC | c.318-4141G>A c.3215-4141G>A (n.3215-4141G>A) c.3964G>A (p.Glu1322Lys) c.1996G>A (p.Glu666Lys) c.652G>A (p.Glu218Lys) c.4011G>A c.5053G>A (p.Glu1685Lys) c.4507G>A (p.Glu1503Lys) c.4307-4141G>A (n.4307-4141G>A) n.371G>A n.253-4141G>A n.40-4141G>A c.740G>A c.4780G>A (p.Glu1594Lys) c.4034-4141G>A (n.4034-4141G>A) c.3415G>A (p.Glu1139Lys) c.5329G>A (p.Glu1777Lys) c.3488-4141G>A (n.3488-4141G>A) c.5056G>A (p.Glu1686Lys) c.4510G>A (p.Glu1504Lys) c.4580-4141G>A (n.4580-4141G>A) c.4237G>A (p.Glu1413Lys) c.3761-4141G>A (n.3761-4141G>A) c.3688G>A (p.Glu1230Lys) c.5602G>A (p.Glu1868Lys) c.5326G>A (p.Glu1776Lys) | COSMIC |
9 | g.115046483A>C | CA466912391 | TNC | c.318-4142T>G c.3215-4142T>G (n.3215-4142T>G) c.3963T>G (p.Thr1321=) c.1995T>G (p.Thr665=) c.651T>G (p.Thr217=) c.4010T>G c.5052T>G (p.Thr1684=) c.4506T>G (p.Thr1502=) c.4307-4142T>G (n.4307-4142T>G) n.370T>G n.253-4142T>G n.40-4142T>G c.739T>G c.4779T>G (p.Thr1593=) c.4034-4142T>G (n.4034-4142T>G) c.3414T>G (p.Thr1138=) c.5328T>G (p.Thr1776=) c.3488-4142T>G (n.3488-4142T>G) c.5055T>G (p.Thr1685=) c.4509T>G (p.Thr1503=) c.4580-4142T>G (n.4580-4142T>G) c.4236T>G (p.Thr1412=) c.3761-4142T>G (n.3761-4142T>G) c.3687T>G (p.Thr1229=) c.5601T>G (p.Thr1867=) c.5325T>G (p.Thr1775=) | |
9 | g.115046483A>G | CA466912390 | TNC | c.318-4142T>C c.3215-4142T>C (n.3215-4142T>C) c.3963T>C (p.Thr1321=) c.1995T>C (p.Thr665=) c.651T>C (p.Thr217=) c.4010T>C c.5052T>C (p.Thr1684=) c.4506T>C (p.Thr1502=) c.4307-4142T>C (n.4307-4142T>C) n.370T>C n.253-4142T>C n.40-4142T>C c.739T>C c.4779T>C (p.Thr1593=) c.4034-4142T>C (n.4034-4142T>C) c.3414T>C (p.Thr1138=) c.5328T>C (p.Thr1776=) c.3488-4142T>C (n.3488-4142T>C) c.5055T>C (p.Thr1685=) c.4509T>C (p.Thr1503=) c.4580-4142T>C (n.4580-4142T>C) c.4236T>C (p.Thr1412=) c.3761-4142T>C (n.3761-4142T>C) c.3687T>C (p.Thr1229=) c.5601T>C (p.Thr1867=) c.5325T>C (p.Thr1775=) | |
9 | g.115046483A>T | CA466912389 | TNC | c.318-4142T>A c.3215-4142T>A (n.3215-4142T>A) c.3963T>A (p.Thr1321=) c.1995T>A (p.Thr665=) c.651T>A (p.Thr217=) c.4010T>A c.5052T>A (p.Thr1684=) c.4506T>A (p.Thr1502=) c.4307-4142T>A (n.4307-4142T>A) n.370T>A n.253-4142T>A n.40-4142T>A c.739T>A c.4779T>A (p.Thr1593=) c.4034-4142T>A (n.4034-4142T>A) c.3414T>A (p.Thr1138=) c.5328T>A (p.Thr1776=) c.3488-4142T>A (n.3488-4142T>A) c.5055T>A (p.Thr1685=) c.4509T>A (p.Thr1503=) c.4580-4142T>A (n.4580-4142T>A) c.4236T>A (p.Thr1412=) c.3761-4142T>A (n.3761-4142T>A) c.3687T>A (p.Thr1229=) c.5601T>A (p.Thr1867=) c.5325T>A (p.Thr1775=) | |
9 | g.115046484G>A | CA374630779 | TNC | c.318-4143C>T c.3215-4143C>T (n.3215-4143C>T) c.3962C>T (p.Thr1321Ile) c.1994C>T (p.Thr665Ile) c.650C>T (p.Thr217Ile) c.4009C>T c.5051C>T (p.Thr1684Ile) c.4505C>T (p.Thr1502Ile) c.4307-4143C>T (n.4307-4143C>T) n.369C>T n.253-4143C>T n.40-4143C>T c.738C>T c.4778C>T (p.Thr1593Ile) c.4034-4143C>T (n.4034-4143C>T) c.3413C>T (p.Thr1138Ile) c.5327C>T (p.Thr1776Ile) c.3488-4143C>T (n.3488-4143C>T) c.5054C>T (p.Thr1685Ile) c.4508C>T (p.Thr1503Ile) c.4580-4143C>T (n.4580-4143C>T) c.4235C>T (p.Thr1412Ile) c.3761-4143C>T (n.3761-4143C>T) c.3686C>T (p.Thr1229Ile) c.5600C>T (p.Thr1867Ile) c.5324C>T (p.Thr1775Ile) | dbSNP |
9 | g.115046484G>C | CA374630781 | TNC | c.318-4143C>G c.3215-4143C>G (n.3215-4143C>G) c.3962C>G (p.Thr1321Ser) c.1994C>G (p.Thr665Ser) c.650C>G (p.Thr217Ser) c.4009C>G c.5051C>G (p.Thr1684Ser) c.4505C>G (p.Thr1502Ser) c.4307-4143C>G (n.4307-4143C>G) n.369C>G n.253-4143C>G n.40-4143C>G c.738C>G c.4778C>G (p.Thr1593Ser) c.4034-4143C>G (n.4034-4143C>G) c.3413C>G (p.Thr1138Ser) c.5327C>G (p.Thr1776Ser) c.3488-4143C>G (n.3488-4143C>G) c.5054C>G (p.Thr1685Ser) c.4508C>G (p.Thr1503Ser) c.4580-4143C>G (n.4580-4143C>G) c.4235C>G (p.Thr1412Ser) c.3761-4143C>G (n.3761-4143C>G) c.3686C>G (p.Thr1229Ser) c.5600C>G (p.Thr1867Ser) c.5324C>G (p.Thr1775Ser) | |
9 | g.115046484G= | CA1874118885 | TNC | c.318-4143C= c.3215-4143C= (n.3215-4143C=) c.3962C= (p.Thr1321=) c.1994C= (p.Thr665=) c.650C= (p.Thr217=) c.4009C= c.5051C= (p.Thr1684=) c.4505C= (p.Thr1502=) c.4307-4143C= (n.4307-4143C=) n.369C= n.253-4143C= n.40-4143C= c.738C= c.4778C= (p.Thr1593=) c.4034-4143C= (n.4034-4143C=) c.3413C= (p.Thr1138=) c.5327C= (p.Thr1776=) c.3488-4143C= (n.3488-4143C=) c.5054C= (p.Thr1685=) c.4508C= (p.Thr1503=) c.4580-4143C= (n.4580-4143C=) c.4235C= (p.Thr1412=) c.3761-4143C= (n.3761-4143C=) c.3686C= (p.Thr1229=) c.5600C= (p.Thr1867=) c.5324C= (p.Thr1775=) | |
9 | g.115046484G>T | CA5207767 | TNC | c.318-4143C>A c.3215-4143C>A (n.3215-4143C>A) c.3962C>A (p.Thr1321Asn) c.1994C>A (p.Thr665Asn) c.650C>A (p.Thr217Asn) c.4009C>A c.5051C>A (p.Thr1684Asn) c.4505C>A (p.Thr1502Asn) c.4307-4143C>A (n.4307-4143C>A) n.369C>A n.253-4143C>A n.40-4143C>A c.738C>A c.4778C>A (p.Thr1593Asn) c.4034-4143C>A (n.4034-4143C>A) c.3413C>A (p.Thr1138Asn) c.5327C>A (p.Thr1776Asn) c.3488-4143C>A (n.3488-4143C>A) c.5054C>A (p.Thr1685Asn) c.4508C>A (p.Thr1503Asn) c.4580-4143C>A (n.4580-4143C>A) c.4235C>A (p.Thr1412Asn) c.3761-4143C>A (n.3761-4143C>A) c.3686C>A (p.Thr1229Asn) c.5600C>A (p.Thr1867Asn) c.5324C>A (p.Thr1775Asn) | dbSNP ExAC gnomAD v2 |
9 | g.115046485T>A | CA374630784 | TNC | c.318-4144A>T c.3215-4144A>T (n.3215-4144A>T) c.3961A>T (p.Thr1321Ser) c.1993A>T (p.Thr665Ser) c.649A>T (p.Thr217Ser) c.4008A>T c.5050A>T (p.Thr1684Ser) c.4504A>T (p.Thr1502Ser) c.4307-4144A>T (n.4307-4144A>T) n.368A>T n.253-4144A>T n.40-4144A>T c.737A>T c.4777A>T (p.Thr1593Ser) c.4034-4144A>T (n.4034-4144A>T) c.3412A>T (p.Thr1138Ser) c.5326A>T (p.Thr1776Ser) c.3488-4144A>T (n.3488-4144A>T) c.5053A>T (p.Thr1685Ser) c.4507A>T (p.Thr1503Ser) c.4580-4144A>T (n.4580-4144A>T) c.4234A>T (p.Thr1412Ser) c.3761-4144A>T (n.3761-4144A>T) c.3685A>T (p.Thr1229Ser) c.5599A>T (p.Thr1867Ser) c.5323A>T (p.Thr1775Ser) | |
9 | g.115046485T>C | CA374630786 | TNC | c.318-4144A>G c.3215-4144A>G (n.3215-4144A>G) c.3961A>G (p.Thr1321Ala) c.1993A>G (p.Thr665Ala) c.649A>G (p.Thr217Ala) c.4008A>G c.5050A>G (p.Thr1684Ala) c.4504A>G (p.Thr1502Ala) c.4307-4144A>G (n.4307-4144A>G) n.368A>G n.253-4144A>G n.40-4144A>G c.737A>G c.4777A>G (p.Thr1593Ala) c.4034-4144A>G (n.4034-4144A>G) c.3412A>G (p.Thr1138Ala) c.5326A>G (p.Thr1776Ala) c.3488-4144A>G (n.3488-4144A>G) c.5053A>G (p.Thr1685Ala) c.4507A>G (p.Thr1503Ala) c.4580-4144A>G (n.4580-4144A>G) c.4234A>G (p.Thr1412Ala) c.3761-4144A>G (n.3761-4144A>G) c.3685A>G (p.Thr1229Ala) c.5599A>G (p.Thr1867Ala) c.5323A>G (p.Thr1775Ala) | gnomAD v4 |
9 | g.115046485T>G | CA374630788 | TNC | c.318-4144A>C c.3215-4144A>C (n.3215-4144A>C) c.3961A>C (p.Thr1321Pro) c.1993A>C (p.Thr665Pro) c.649A>C (p.Thr217Pro) c.4008A>C c.5050A>C (p.Thr1684Pro) c.4504A>C (p.Thr1502Pro) c.4307-4144A>C (n.4307-4144A>C) n.368A>C n.253-4144A>C n.40-4144A>C c.737A>C c.4777A>C (p.Thr1593Pro) c.4034-4144A>C (n.4034-4144A>C) c.3412A>C (p.Thr1138Pro) c.5326A>C (p.Thr1776Pro) c.3488-4144A>C (n.3488-4144A>C) c.5053A>C (p.Thr1685Pro) c.4507A>C (p.Thr1503Pro) c.4580-4144A>C (n.4580-4144A>C) c.4234A>C (p.Thr1412Pro) c.3761-4144A>C (n.3761-4144A>C) c.3685A>C (p.Thr1229Pro) c.5599A>C (p.Thr1867Pro) c.5323A>C (p.Thr1775Pro) | |
9 | g.115046486A>C | CA466912397 | TNC | c.318-4145T>G c.3215-4145T>G (n.3215-4145T>G) c.3960T>G (p.Ala1320=) c.1992T>G (p.Ala664=) c.648T>G (p.Ala216=) c.4007T>G c.5049T>G (p.Ala1683=) c.4503T>G (p.Ala1501=) c.4307-4145T>G (n.4307-4145T>G) n.367T>G n.253-4145T>G n.40-4145T>G c.736T>G c.4776T>G (p.Ala1592=) c.4034-4145T>G (n.4034-4145T>G) c.3411T>G (p.Ala1137=) c.5325T>G (p.Ala1775=) c.3488-4145T>G (n.3488-4145T>G) c.5052T>G (p.Ala1684=) c.4506T>G (p.Ala1502=) c.4580-4145T>G (n.4580-4145T>G) c.4233T>G (p.Ala1411=) c.3761-4145T>G (n.3761-4145T>G) c.3684T>G (p.Ala1228=) c.5598T>G (p.Ala1866=) c.5322T>G (p.Ala1774=) | |
9 | g.115046486A>G | CA466912395 | TNC | c.318-4145T>C c.3215-4145T>C (n.3215-4145T>C) c.3960T>C (p.Ala1320=) c.1992T>C (p.Ala664=) c.648T>C (p.Ala216=) c.4007T>C c.5049T>C (p.Ala1683=) c.4503T>C (p.Ala1501=) c.4307-4145T>C (n.4307-4145T>C) n.367T>C n.253-4145T>C n.40-4145T>C c.736T>C c.4776T>C (p.Ala1592=) c.4034-4145T>C (n.4034-4145T>C) c.3411T>C (p.Ala1137=) c.5325T>C (p.Ala1775=) c.3488-4145T>C (n.3488-4145T>C) c.5052T>C (p.Ala1684=) c.4506T>C (p.Ala1502=) c.4580-4145T>C (n.4580-4145T>C) c.4233T>C (p.Ala1411=) c.3761-4145T>C (n.3761-4145T>C) c.3684T>C (p.Ala1228=) c.5598T>C (p.Ala1866=) c.5322T>C (p.Ala1774=) | |
9 | g.115046486A>T | CA466912394 | TNC | c.318-4145T>A c.3215-4145T>A (n.3215-4145T>A) c.3960T>A (p.Ala1320=) c.1992T>A (p.Ala664=) c.648T>A (p.Ala216=) c.4007T>A c.5049T>A (p.Ala1683=) c.4503T>A (p.Ala1501=) c.4307-4145T>A (n.4307-4145T>A) n.367T>A n.253-4145T>A n.40-4145T>A c.736T>A c.4776T>A (p.Ala1592=) c.4034-4145T>A (n.4034-4145T>A) c.3411T>A (p.Ala1137=) c.5325T>A (p.Ala1775=) c.3488-4145T>A (n.3488-4145T>A) c.5052T>A (p.Ala1684=) c.4506T>A (p.Ala1502=) c.4580-4145T>A (n.4580-4145T>A) c.4233T>A (p.Ala1411=) c.3761-4145T>A (n.3761-4145T>A) c.3684T>A (p.Ala1228=) c.5598T>A (p.Ala1866=) c.5322T>A (p.Ala1774=) | gnomAD v4 |
9 | g.115046487G>A | CA374630792 | TNC | c.318-4146C>T c.3215-4146C>T (n.3215-4146C>T) c.3959C>T (p.Ala1320Val) c.1991C>T (p.Ala664Val) c.647C>T (p.Ala216Val) c.4006C>T c.5048C>T (p.Ala1683Val) c.4502C>T (p.Ala1501Val) c.4307-4146C>T (n.4307-4146C>T) n.366C>T n.253-4146C>T n.40-4146C>T c.735C>T c.4775C>T (p.Ala1592Val) c.4034-4146C>T (n.4034-4146C>T) c.3410C>T (p.Ala1137Val) c.5324C>T (p.Ala1775Val) c.3488-4146C>T (n.3488-4146C>T) c.5051C>T (p.Ala1684Val) c.4505C>T (p.Ala1502Val) c.4580-4146C>T (n.4580-4146C>T) c.4232C>T (p.Ala1411Val) c.3761-4146C>T (n.3761-4146C>T) c.3683C>T (p.Ala1228Val) c.5597C>T (p.Ala1866Val) c.5321C>T (p.Ala1774Val) | |
9 | g.115046487G>C | CA374630794 | TNC | c.318-4146C>G c.3215-4146C>G (n.3215-4146C>G) c.3959C>G (p.Ala1320Gly) c.1991C>G (p.Ala664Gly) c.647C>G (p.Ala216Gly) c.4006C>G c.5048C>G (p.Ala1683Gly) c.4502C>G (p.Ala1501Gly) c.4307-4146C>G (n.4307-4146C>G) n.366C>G n.253-4146C>G n.40-4146C>G c.735C>G c.4775C>G (p.Ala1592Gly) c.4034-4146C>G (n.4034-4146C>G) c.3410C>G (p.Ala1137Gly) c.5324C>G (p.Ala1775Gly) c.3488-4146C>G (n.3488-4146C>G) c.5051C>G (p.Ala1684Gly) c.4505C>G (p.Ala1502Gly) c.4580-4146C>G (n.4580-4146C>G) c.4232C>G (p.Ala1411Gly) c.3761-4146C>G (n.3761-4146C>G) c.3683C>G (p.Ala1228Gly) c.5597C>G (p.Ala1866Gly) c.5321C>G (p.Ala1774Gly) | |
9 | g.115046487G>T | CA374630790 | TNC | c.318-4146C>A c.3215-4146C>A (n.3215-4146C>A) c.3959C>A (p.Ala1320Asp) c.1991C>A (p.Ala664Asp) c.647C>A (p.Ala216Asp) c.4006C>A c.5048C>A (p.Ala1683Asp) c.4502C>A (p.Ala1501Asp) c.4307-4146C>A (n.4307-4146C>A) n.366C>A n.253-4146C>A n.40-4146C>A c.735C>A c.4775C>A (p.Ala1592Asp) c.4034-4146C>A (n.4034-4146C>A) c.3410C>A (p.Ala1137Asp) c.5324C>A (p.Ala1775Asp) c.3488-4146C>A (n.3488-4146C>A) c.5051C>A (p.Ala1684Asp) c.4505C>A (p.Ala1502Asp) c.4580-4146C>A (n.4580-4146C>A) c.4232C>A (p.Ala1411Asp) c.3761-4146C>A (n.3761-4146C>A) c.3683C>A (p.Ala1228Asp) c.5597C>A (p.Ala1866Asp) c.5321C>A (p.Ala1774Asp) | |
9 | g.115046488C>A | CA374630795 | TNC | c.318-4147G>T c.3215-4147G>T (n.3215-4147G>T) c.3958G>T (p.Ala1320Ser) c.1990G>T (p.Ala664Ser) c.646G>T (p.Ala216Ser) c.4005G>T c.5047G>T (p.Ala1683Ser) c.4501G>T (p.Ala1501Ser) c.4307-4147G>T (n.4307-4147G>T) n.365G>T n.253-4147G>T n.40-4147G>T c.734G>T c.4774G>T (p.Ala1592Ser) c.4034-4147G>T (n.4034-4147G>T) c.3409G>T (p.Ala1137Ser) c.5323G>T (p.Ala1775Ser) c.3488-4147G>T (n.3488-4147G>T) c.5050G>T (p.Ala1684Ser) c.4504G>T (p.Ala1502Ser) c.4580-4147G>T (n.4580-4147G>T) c.4231G>T (p.Ala1411Ser) c.3761-4147G>T (n.3761-4147G>T) c.3682G>T (p.Ala1228Ser) c.5596G>T (p.Ala1866Ser) c.5320G>T (p.Ala1774Ser) | gnomAD v4 |
9 | g.115046488C>G | CA374630796 | TNC | c.318-4147G>C c.3215-4147G>C (n.3215-4147G>C) c.3958G>C (p.Ala1320Pro) c.1990G>C (p.Ala664Pro) c.646G>C (p.Ala216Pro) c.4005G>C c.5047G>C (p.Ala1683Pro) c.4501G>C (p.Ala1501Pro) c.4307-4147G>C (n.4307-4147G>C) n.365G>C n.253-4147G>C n.40-4147G>C c.734G>C c.4774G>C (p.Ala1592Pro) c.4034-4147G>C (n.4034-4147G>C) c.3409G>C (p.Ala1137Pro) c.5323G>C (p.Ala1775Pro) c.3488-4147G>C (n.3488-4147G>C) c.5050G>C (p.Ala1684Pro) c.4504G>C (p.Ala1502Pro) c.4580-4147G>C (n.4580-4147G>C) c.4231G>C (p.Ala1411Pro) c.3761-4147G>C (n.3761-4147G>C) c.3682G>C (p.Ala1228Pro) c.5596G>C (p.Ala1866Pro) c.5320G>C (p.Ala1774Pro) | gnomAD v4 |
9 | g.115046488C>T | CA374630798 | TNC | c.318-4147G>A c.3215-4147G>A (n.3215-4147G>A) c.3958G>A (p.Ala1320Thr) c.1990G>A (p.Ala664Thr) c.646G>A (p.Ala216Thr) c.4005G>A c.5047G>A (p.Ala1683Thr) c.4501G>A (p.Ala1501Thr) c.4307-4147G>A (n.4307-4147G>A) n.365G>A n.253-4147G>A n.40-4147G>A c.734G>A c.4774G>A (p.Ala1592Thr) c.4034-4147G>A (n.4034-4147G>A) c.3409G>A (p.Ala1137Thr) c.5323G>A (p.Ala1775Thr) c.3488-4147G>A (n.3488-4147G>A) c.5050G>A (p.Ala1684Thr) c.4504G>A (p.Ala1502Thr) c.4580-4147G>A (n.4580-4147G>A) c.4231G>A (p.Ala1411Thr) c.3761-4147G>A (n.3761-4147G>A) c.3682G>A (p.Ala1228Thr) c.5596G>A (p.Ala1866Thr) c.5320G>A (p.Ala1774Thr) | |
9 | g.115046489C>A | CA374630800 | TNC | c.318-4148G>T c.3215-4148G>T (n.3215-4148G>T) c.3957G>T (p.Glu1319Asp) c.1989G>T (p.Glu663Asp) c.645G>T (p.Glu215Asp) c.4004G>T c.5046G>T (p.Glu1682Asp) c.4500G>T (p.Glu1500Asp) c.4307-4148G>T (n.4307-4148G>T) n.364G>T n.253-4148G>T n.40-4148G>T c.733G>T c.4773G>T (p.Glu1591Asp) c.4034-4148G>T (n.4034-4148G>T) c.3408G>T (p.Glu1136Asp) c.5322G>T (p.Glu1774Asp) c.3488-4148G>T (n.3488-4148G>T) c.5049G>T (p.Glu1683Asp) c.4503G>T (p.Glu1501Asp) c.4580-4148G>T (n.4580-4148G>T) c.4230G>T (p.Glu1410Asp) c.3761-4148G>T (n.3761-4148G>T) c.3681G>T (p.Glu1227Asp) c.5595G>T (p.Glu1865Asp) c.5319G>T (p.Glu1773Asp) | |
9 | g.115046489C>G | CA374630802 | TNC | c.318-4148G>C c.3215-4148G>C (n.3215-4148G>C) c.3957G>C (p.Glu1319Asp) c.1989G>C (p.Glu663Asp) c.645G>C (p.Glu215Asp) c.4004G>C c.5046G>C (p.Glu1682Asp) c.4500G>C (p.Glu1500Asp) c.4307-4148G>C (n.4307-4148G>C) n.364G>C n.253-4148G>C n.40-4148G>C c.733G>C c.4773G>C (p.Glu1591Asp) c.4034-4148G>C (n.4034-4148G>C) c.3408G>C (p.Glu1136Asp) c.5322G>C (p.Glu1774Asp) c.3488-4148G>C (n.3488-4148G>C) c.5049G>C (p.Glu1683Asp) c.4503G>C (p.Glu1501Asp) c.4580-4148G>C (n.4580-4148G>C) c.4230G>C (p.Glu1410Asp) c.3761-4148G>C (n.3761-4148G>C) c.3681G>C (p.Glu1227Asp) c.5595G>C (p.Glu1865Asp) c.5319G>C (p.Glu1773Asp) | |
9 | g.115046489C>T | CA466912399 | TNC | c.318-4148G>A c.3215-4148G>A (n.3215-4148G>A) c.3957G>A (p.Glu1319=) c.1989G>A (p.Glu663=) c.645G>A (p.Glu215=) c.4004G>A c.5046G>A (p.Glu1682=) c.4500G>A (p.Glu1500=) c.4307-4148G>A (n.4307-4148G>A) n.364G>A n.253-4148G>A n.40-4148G>A c.733G>A c.4773G>A (p.Glu1591=) c.4034-4148G>A (n.4034-4148G>A) c.3408G>A (p.Glu1136=) c.5322G>A (p.Glu1774=) c.3488-4148G>A (n.3488-4148G>A) c.5049G>A (p.Glu1683=) c.4503G>A (p.Glu1501=) c.4580-4148G>A (n.4580-4148G>A) c.4230G>A (p.Glu1410=) c.3761-4148G>A (n.3761-4148G>A) c.3681G>A (p.Glu1227=) c.5595G>A (p.Glu1865=) c.5319G>A (p.Glu1773=) | |
9 | g.115046490T>A | CA374630804 | TNC | c.318-4149A>T c.3215-4149A>T (n.3215-4149A>T) c.3956A>T (p.Glu1319Val) c.1988A>T (p.Glu663Val) c.644A>T (p.Glu215Val) c.4003A>T c.5045A>T (p.Glu1682Val) c.4499A>T (p.Glu1500Val) c.4307-4149A>T (n.4307-4149A>T) n.363A>T n.253-4149A>T n.40-4149A>T c.732A>T c.4772A>T (p.Glu1591Val) c.4034-4149A>T (n.4034-4149A>T) c.3407A>T (p.Glu1136Val) c.5321A>T (p.Glu1774Val) c.3488-4149A>T (n.3488-4149A>T) c.5048A>T (p.Glu1683Val) c.4502A>T (p.Glu1501Val) c.4580-4149A>T (n.4580-4149A>T) c.4229A>T (p.Glu1410Val) c.3761-4149A>T (n.3761-4149A>T) c.3680A>T (p.Glu1227Val) c.5594A>T (p.Glu1865Val) c.5318A>T (p.Glu1773Val) | |
9 | g.115046490T>C | CA374630806 | TNC | c.318-4149A>G c.3215-4149A>G (n.3215-4149A>G) c.3956A>G (p.Glu1319Gly) c.1988A>G (p.Glu663Gly) c.644A>G (p.Glu215Gly) c.4003A>G c.5045A>G (p.Glu1682Gly) c.4499A>G (p.Glu1500Gly) c.4307-4149A>G (n.4307-4149A>G) n.363A>G n.253-4149A>G n.40-4149A>G c.732A>G c.4772A>G (p.Glu1591Gly) c.4034-4149A>G (n.4034-4149A>G) c.3407A>G (p.Glu1136Gly) c.5321A>G (p.Glu1774Gly) c.3488-4149A>G (n.3488-4149A>G) c.5048A>G (p.Glu1683Gly) c.4502A>G (p.Glu1501Gly) c.4580-4149A>G (n.4580-4149A>G) c.4229A>G (p.Glu1410Gly) c.3761-4149A>G (n.3761-4149A>G) c.3680A>G (p.Glu1227Gly) c.5594A>G (p.Glu1865Gly) c.5318A>G (p.Glu1773Gly) | |
9 | g.115046490T>G | CA374630808 | TNC | c.318-4149A>C c.3215-4149A>C (n.3215-4149A>C) c.3956A>C (p.Glu1319Ala) c.1988A>C (p.Glu663Ala) c.644A>C (p.Glu215Ala) c.4003A>C c.5045A>C (p.Glu1682Ala) c.4499A>C (p.Glu1500Ala) c.4307-4149A>C (n.4307-4149A>C) n.363A>C n.253-4149A>C n.40-4149A>C c.732A>C c.4772A>C (p.Glu1591Ala) c.4034-4149A>C (n.4034-4149A>C) c.3407A>C (p.Glu1136Ala) c.5321A>C (p.Glu1774Ala) c.3488-4149A>C (n.3488-4149A>C) c.5048A>C (p.Glu1683Ala) c.4502A>C (p.Glu1501Ala) c.4580-4149A>C (n.4580-4149A>C) c.4229A>C (p.Glu1410Ala) c.3761-4149A>C (n.3761-4149A>C) c.3680A>C (p.Glu1227Ala) c.5594A>C (p.Glu1865Ala) c.5318A>C (p.Glu1773Ala) | |
9 | g.115046491C>A | CA374630810 | TNC | c.318-4150G>T c.3215-4150G>T (n.3215-4150G>T) c.3955G>T (p.Glu1319Ter) c.1987G>T (p.Glu663Ter) c.643G>T (p.Glu215Ter) c.4002G>T c.5044G>T (p.Glu1682Ter) c.4498G>T (p.Glu1500Ter) c.4307-4150G>T (n.4307-4150G>T) n.362G>T n.253-4150G>T n.40-4150G>T c.731G>T c.4771G>T (p.Glu1591Ter) c.4034-4150G>T (n.4034-4150G>T) c.3406G>T (p.Glu1136Ter) c.5320G>T (p.Glu1774Ter) c.3488-4150G>T (n.3488-4150G>T) c.5047G>T (p.Glu1683Ter) c.4501G>T (p.Glu1501Ter) c.4580-4150G>T (n.4580-4150G>T) c.4228G>T (p.Glu1410Ter) c.3761-4150G>T (n.3761-4150G>T) c.3679G>T (p.Glu1227Ter) c.5593G>T (p.Glu1865Ter) c.5317G>T (p.Glu1773Ter) | |
9 | g.115046491C= | CA1874118886 | TNC | c.318-4150G= c.3215-4150G= (n.3215-4150G=) c.3955G= (p.Glu1319=) c.1987G= (p.Glu663=) c.643G= (p.Glu215=) c.4002G= c.5044G= (p.Glu1682=) c.4498G= (p.Glu1500=) c.4307-4150G= (n.4307-4150G=) n.362G= n.253-4150G= n.40-4150G= c.731G= c.4771G= (p.Glu1591=) c.4034-4150G= (n.4034-4150G=) c.3406G= (p.Glu1136=) c.5320G= (p.Glu1774=) c.3488-4150G= (n.3488-4150G=) c.5047G= (p.Glu1683=) c.4501G= (p.Glu1501=) c.4580-4150G= (n.4580-4150G=) c.4228G= (p.Glu1410=) c.3761-4150G= (n.3761-4150G=) c.3679G= (p.Glu1227=) c.5593G= (p.Glu1865=) c.5317G= (p.Glu1773=) | |
9 | g.115046491C>G | CA374630812 | TNC | c.318-4150G>C c.3215-4150G>C (n.3215-4150G>C) c.3955G>C (p.Glu1319Gln) c.1987G>C (p.Glu663Gln) c.643G>C (p.Glu215Gln) c.4002G>C c.5044G>C (p.Glu1682Gln) c.4498G>C (p.Glu1500Gln) c.4307-4150G>C (n.4307-4150G>C) n.362G>C n.253-4150G>C n.40-4150G>C c.731G>C c.4771G>C (p.Glu1591Gln) c.4034-4150G>C (n.4034-4150G>C) c.3406G>C (p.Glu1136Gln) c.5320G>C (p.Glu1774Gln) c.3488-4150G>C (n.3488-4150G>C) c.5047G>C (p.Glu1683Gln) c.4501G>C (p.Glu1501Gln) c.4580-4150G>C (n.4580-4150G>C) c.4228G>C (p.Glu1410Gln) c.3761-4150G>C (n.3761-4150G>C) c.3679G>C (p.Glu1227Gln) c.5593G>C (p.Glu1865Gln) c.5317G>C (p.Glu1773Gln) | |
9 | g.115046491C>T | CA5207768 | TNC | c.318-4150G>A c.3215-4150G>A (n.3215-4150G>A) c.3955G>A (p.Glu1319Lys) c.1987G>A (p.Glu663Lys) c.643G>A (p.Glu215Lys) c.4002G>A c.5044G>A (p.Glu1682Lys) c.4498G>A (p.Glu1500Lys) c.4307-4150G>A (n.4307-4150G>A) n.362G>A n.253-4150G>A n.40-4150G>A c.731G>A c.4771G>A (p.Glu1591Lys) c.4034-4150G>A (n.4034-4150G>A) c.3406G>A (p.Glu1136Lys) c.5320G>A (p.Glu1774Lys) c.3488-4150G>A (n.3488-4150G>A) c.5047G>A (p.Glu1683Lys) c.4501G>A (p.Glu1501Lys) c.4580-4150G>A (n.4580-4150G>A) c.4228G>A (p.Glu1410Lys) c.3761-4150G>A (n.3761-4150G>A) c.3679G>A (p.Glu1227Lys) c.5593G>A (p.Glu1865Lys) c.5317G>A (p.Glu1773Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.115046492T>A | CA374630814 | TNC | c.318-4151A>T c.3215-4151A>T (n.3215-4151A>T) c.3954A>T (p.Arg1318Ser) c.1986A>T (p.Arg662Ser) c.642A>T (p.Arg214Ser) c.4001A>T c.5043A>T (p.Arg1681Ser) c.4497A>T (p.Arg1499Ser) c.4307-4151A>T (n.4307-4151A>T) n.361A>T n.253-4151A>T n.40-4151A>T c.730A>T c.4770A>T (p.Arg1590Ser) c.4034-4151A>T (n.4034-4151A>T) c.3405A>T (p.Arg1135Ser) c.5319A>T (p.Arg1773Ser) c.3488-4151A>T (n.3488-4151A>T) c.5046A>T (p.Arg1682Ser) c.4500A>T (p.Arg1500Ser) c.4580-4151A>T (n.4580-4151A>T) c.4227A>T (p.Arg1409Ser) c.3761-4151A>T (n.3761-4151A>T) c.3678A>T (p.Arg1226Ser) c.5592A>T (p.Arg1864Ser) c.5316A>T (p.Arg1772Ser) | |
9 | g.115046492T>C | CA466912401 | TNC | c.318-4151A>G c.3215-4151A>G (n.3215-4151A>G) c.3954A>G (p.Arg1318=) c.1986A>G (p.Arg662=) c.642A>G (p.Arg214=) c.4001A>G c.5043A>G (p.Arg1681=) c.4497A>G (p.Arg1499=) c.4307-4151A>G (n.4307-4151A>G) n.361A>G n.253-4151A>G n.40-4151A>G c.730A>G c.4770A>G (p.Arg1590=) c.4034-4151A>G (n.4034-4151A>G) c.3405A>G (p.Arg1135=) c.5319A>G (p.Arg1773=) c.3488-4151A>G (n.3488-4151A>G) c.5046A>G (p.Arg1682=) c.4500A>G (p.Arg1500=) c.4580-4151A>G (n.4580-4151A>G) c.4227A>G (p.Arg1409=) c.3761-4151A>G (n.3761-4151A>G) c.3678A>G (p.Arg1226=) c.5592A>G (p.Arg1864=) c.5316A>G (p.Arg1772=) | |
9 | g.115046492T>G | CA374630815 | TNC | c.318-4151A>C c.3215-4151A>C (n.3215-4151A>C) c.3954A>C (p.Arg1318Ser) c.1986A>C (p.Arg662Ser) c.642A>C (p.Arg214Ser) c.4001A>C c.5043A>C (p.Arg1681Ser) c.4497A>C (p.Arg1499Ser) c.4307-4151A>C (n.4307-4151A>C) n.361A>C n.253-4151A>C n.40-4151A>C c.730A>C c.4770A>C (p.Arg1590Ser) c.4034-4151A>C (n.4034-4151A>C) c.3405A>C (p.Arg1135Ser) c.5319A>C (p.Arg1773Ser) c.3488-4151A>C (n.3488-4151A>C) c.5046A>C (p.Arg1682Ser) c.4500A>C (p.Arg1500Ser) c.4580-4151A>C (n.4580-4151A>C) c.4227A>C (p.Arg1409Ser) c.3761-4151A>C (n.3761-4151A>C) c.3678A>C (p.Arg1226Ser) c.5592A>C (p.Arg1864Ser) c.5316A>C (p.Arg1772Ser) | |
9 | g.115046493C>A | CA374630821 | TNC | c.318-4152G>T c.3215-4152G>T (n.3215-4152G>T) c.3953G>T (p.Arg1318Ile) c.1985G>T (p.Arg662Ile) c.641G>T (p.Arg214Ile) c.4000G>T c.5042G>T (p.Arg1681Ile) c.4496G>T (p.Arg1499Ile) c.4307-4152G>T (n.4307-4152G>T) n.360G>T n.253-4152G>T n.40-4152G>T c.729G>T c.4769G>T (p.Arg1590Ile) c.4034-4152G>T (n.4034-4152G>T) c.3404G>T (p.Arg1135Ile) c.5318G>T (p.Arg1773Ile) c.3488-4152G>T (n.3488-4152G>T) c.5045G>T (p.Arg1682Ile) c.4499G>T (p.Arg1500Ile) c.4580-4152G>T (n.4580-4152G>T) c.4226G>T (p.Arg1409Ile) c.3761-4152G>T (n.3761-4152G>T) c.3677G>T (p.Arg1226Ile) c.5591G>T (p.Arg1864Ile) c.5315G>T (p.Arg1772Ile) | |
9 | g.115046493C= | CA1874118887 | TNC | c.318-4152G= c.3215-4152G= (n.3215-4152G=) c.3953G= (p.Arg1318=) c.1985G= (p.Arg662=) c.641G= (p.Arg214=) c.4000G= c.5042G= (p.Arg1681=) c.4496G= (p.Arg1499=) c.4307-4152G= (n.4307-4152G=) n.360G= n.253-4152G= n.40-4152G= c.729G= c.4769G= (p.Arg1590=) c.4034-4152G= (n.4034-4152G=) c.3404G= (p.Arg1135=) c.5318G= (p.Arg1773=) c.3488-4152G= (n.3488-4152G=) c.5045G= (p.Arg1682=) c.4499G= (p.Arg1500=) c.4580-4152G= (n.4580-4152G=) c.4226G= (p.Arg1409=) c.3761-4152G= (n.3761-4152G=) c.3677G= (p.Arg1226=) c.5591G= (p.Arg1864=) c.5315G= (p.Arg1772=) | |
9 | g.115046493C>G | CA374630819 | TNC | c.318-4152G>C c.3215-4152G>C (n.3215-4152G>C) c.3953G>C (p.Arg1318Thr) c.1985G>C (p.Arg662Thr) c.641G>C (p.Arg214Thr) c.4000G>C c.5042G>C (p.Arg1681Thr) c.4496G>C (p.Arg1499Thr) c.4307-4152G>C (n.4307-4152G>C) n.360G>C n.253-4152G>C n.40-4152G>C c.729G>C c.4769G>C (p.Arg1590Thr) c.4034-4152G>C (n.4034-4152G>C) c.3404G>C (p.Arg1135Thr) c.5318G>C (p.Arg1773Thr) c.3488-4152G>C (n.3488-4152G>C) c.5045G>C (p.Arg1682Thr) c.4499G>C (p.Arg1500Thr) c.4580-4152G>C (n.4580-4152G>C) c.4226G>C (p.Arg1409Thr) c.3761-4152G>C (n.3761-4152G>C) c.3677G>C (p.Arg1226Thr) c.5591G>C (p.Arg1864Thr) c.5315G>C (p.Arg1772Thr) | |
9 | g.115046493C>T | CA374630818 | TNC | c.318-4152G>A c.3215-4152G>A (n.3215-4152G>A) c.3953G>A (p.Arg1318Lys) c.1985G>A (p.Arg662Lys) c.641G>A (p.Arg214Lys) c.4000G>A c.5042G>A (p.Arg1681Lys) c.4496G>A (p.Arg1499Lys) c.4307-4152G>A (n.4307-4152G>A) n.360G>A n.253-4152G>A n.40-4152G>A c.729G>A c.4769G>A (p.Arg1590Lys) c.4034-4152G>A (n.4034-4152G>A) c.3404G>A (p.Arg1135Lys) c.5318G>A (p.Arg1773Lys) c.3488-4152G>A (n.3488-4152G>A) c.5045G>A (p.Arg1682Lys) c.4499G>A (p.Arg1500Lys) c.4580-4152G>A (n.4580-4152G>A) c.4226G>A (p.Arg1409Lys) c.3761-4152G>A (n.3761-4152G>A) c.3677G>A (p.Arg1226Lys) c.5591G>A (p.Arg1864Lys) c.5315G>A (p.Arg1772Lys) | dbSNP gnomAD v4 |
9 | g.115046494T>A | CA374630823 | TNC | c.318-4153A>T c.3215-4153A>T (n.3215-4153A>T) c.3952A>T (p.Arg1318Ter) c.1984A>T (p.Arg662Ter) c.640A>T (p.Arg214Ter) c.3999A>T c.5041A>T (p.Arg1681Ter) c.4495A>T (p.Arg1499Ter) c.4307-4153A>T (n.4307-4153A>T) n.359A>T n.253-4153A>T n.40-4153A>T c.728A>T c.4768A>T (p.Arg1590Ter) c.4034-4153A>T (n.4034-4153A>T) c.3403A>T (p.Arg1135Ter) c.5317A>T (p.Arg1773Ter) c.3488-4153A>T (n.3488-4153A>T) c.5044A>T (p.Arg1682Ter) c.4498A>T (p.Arg1500Ter) c.4580-4153A>T (n.4580-4153A>T) c.4225A>T (p.Arg1409Ter) c.3761-4153A>T (n.3761-4153A>T) c.3676A>T (p.Arg1226Ter) c.5590A>T (p.Arg1864Ter) c.5314A>T (p.Arg1772Ter) | |
9 | g.115046494T>C | CA374630825 | TNC | c.318-4153A>G c.3215-4153A>G (n.3215-4153A>G) c.3952A>G (p.Arg1318Gly) c.1984A>G (p.Arg662Gly) c.640A>G (p.Arg214Gly) c.3999A>G c.5041A>G (p.Arg1681Gly) c.4495A>G (p.Arg1499Gly) c.4307-4153A>G (n.4307-4153A>G) n.359A>G n.253-4153A>G n.40-4153A>G c.728A>G c.4768A>G (p.Arg1590Gly) c.4034-4153A>G (n.4034-4153A>G) c.3403A>G (p.Arg1135Gly) c.5317A>G (p.Arg1773Gly) c.3488-4153A>G (n.3488-4153A>G) c.5044A>G (p.Arg1682Gly) c.4498A>G (p.Arg1500Gly) c.4580-4153A>G (n.4580-4153A>G) c.4225A>G (p.Arg1409Gly) c.3761-4153A>G (n.3761-4153A>G) c.3676A>G (p.Arg1226Gly) c.5590A>G (p.Arg1864Gly) c.5314A>G (p.Arg1772Gly) | |
9 | g.115046494T>G | CA466912402 | TNC | c.318-4153A>C c.3215-4153A>C (n.3215-4153A>C) c.3952A>C (p.Arg1318=) c.1984A>C (p.Arg662=) c.640A>C (p.Arg214=) c.3999A>C c.5041A>C (p.Arg1681=) c.4495A>C (p.Arg1499=) c.4307-4153A>C (n.4307-4153A>C) n.359A>C n.253-4153A>C n.40-4153A>C c.728A>C c.4768A>C (p.Arg1590=) c.4034-4153A>C (n.4034-4153A>C) c.3403A>C (p.Arg1135=) c.5317A>C (p.Arg1773=) c.3488-4153A>C (n.3488-4153A>C) c.5044A>C (p.Arg1682=) c.4498A>C (p.Arg1500=) c.4580-4153A>C (n.4580-4153A>C) c.4225A>C (p.Arg1409=) c.3761-4153A>C (n.3761-4153A>C) c.3676A>C (p.Arg1226=) c.5590A>C (p.Arg1864=) c.5314A>C (p.Arg1772=) | |
9 | g.115046495G>A | CA466912403 | TNC | c.318-4154C>T c.3215-4154C>T (n.3215-4154C>T) c.3951C>T (p.Leu1317=) c.1983C>T (p.Leu661=) c.639C>T (p.Leu213=) c.3998C>T c.5040C>T (p.Leu1680=) c.4494C>T (p.Leu1498=) c.4307-4154C>T (n.4307-4154C>T) n.358C>T n.253-4154C>T n.40-4154C>T c.727C>T c.4767C>T (p.Leu1589=) c.4034-4154C>T (n.4034-4154C>T) c.3402C>T (p.Leu1134=) c.5316C>T (p.Leu1772=) c.3488-4154C>T (n.3488-4154C>T) c.5043C>T (p.Leu1681=) c.4497C>T (p.Leu1499=) c.4580-4154C>T (n.4580-4154C>T) c.4224C>T (p.Leu1408=) c.3761-4154C>T (n.3761-4154C>T) c.3675C>T (p.Leu1225=) c.5589C>T (p.Leu1863=) c.5313C>T (p.Leu1771=) | dbSNP |
9 | g.115046495G>C | CA466912404 | TNC | c.318-4154C>G c.3215-4154C>G (n.3215-4154C>G) c.3951C>G (p.Leu1317=) c.1983C>G (p.Leu661=) c.639C>G (p.Leu213=) c.3998C>G c.5040C>G (p.Leu1680=) c.4494C>G (p.Leu1498=) c.4307-4154C>G (n.4307-4154C>G) n.358C>G n.253-4154C>G n.40-4154C>G c.727C>G c.4767C>G (p.Leu1589=) c.4034-4154C>G (n.4034-4154C>G) c.3402C>G (p.Leu1134=) c.5316C>G (p.Leu1772=) c.3488-4154C>G (n.3488-4154C>G) c.5043C>G (p.Leu1681=) c.4497C>G (p.Leu1499=) c.4580-4154C>G (n.4580-4154C>G) c.4224C>G (p.Leu1408=) c.3761-4154C>G (n.3761-4154C>G) c.3675C>G (p.Leu1225=) c.5589C>G (p.Leu1863=) c.5313C>G (p.Leu1771=) | |
9 | g.115046495G= | CA1874118888 | TNC | c.318-4154C= c.3215-4154C= (n.3215-4154C=) c.3951C= (p.Leu1317=) c.1983C= (p.Leu661=) c.639C= (p.Leu213=) c.3998C= c.5040C= (p.Leu1680=) c.4494C= (p.Leu1498=) c.4307-4154C= (n.4307-4154C=) n.358C= n.253-4154C= n.40-4154C= c.727C= c.4767C= (p.Leu1589=) c.4034-4154C= (n.4034-4154C=) c.3402C= (p.Leu1134=) c.5316C= (p.Leu1772=) c.3488-4154C= (n.3488-4154C=) c.5043C= (p.Leu1681=) c.4497C= (p.Leu1499=) c.4580-4154C= (n.4580-4154C=) c.4224C= (p.Leu1408=) c.3761-4154C= (n.3761-4154C=) c.3675C= (p.Leu1225=) c.5589C= (p.Leu1863=) c.5313C= (p.Leu1771=) | |
9 | g.115046495G>T | CA466912405 | TNC | c.318-4154C>A c.3215-4154C>A (n.3215-4154C>A) c.3951C>A (p.Leu1317=) c.1983C>A (p.Leu661=) c.639C>A (p.Leu213=) c.3998C>A c.5040C>A (p.Leu1680=) c.4494C>A (p.Leu1498=) c.4307-4154C>A (n.4307-4154C>A) n.358C>A n.253-4154C>A n.40-4154C>A c.727C>A c.4767C>A (p.Leu1589=) c.4034-4154C>A (n.4034-4154C>A) c.3402C>A (p.Leu1134=) c.5316C>A (p.Leu1772=) c.3488-4154C>A (n.3488-4154C>A) c.5043C>A (p.Leu1681=) c.4497C>A (p.Leu1499=) c.4580-4154C>A (n.4580-4154C>A) c.4224C>A (p.Leu1408=) c.3761-4154C>A (n.3761-4154C>A) c.3675C>A (p.Leu1225=) c.5589C>A (p.Leu1863=) c.5313C>A (p.Leu1771=) | |
9 | g.115046496A>C | CA374630827 | TNC | c.318-4155T>G c.3215-4155T>G (n.3215-4155T>G) c.3950T>G (p.Leu1317Arg) c.1982T>G (p.Leu661Arg) c.638T>G (p.Leu213Arg) c.3997T>G c.5039T>G (p.Leu1680Arg) c.4493T>G (p.Leu1498Arg) c.4307-4155T>G (n.4307-4155T>G) n.357T>G n.253-4155T>G n.40-4155T>G c.726T>G c.4766T>G (p.Leu1589Arg) c.4034-4155T>G (n.4034-4155T>G) c.3401T>G (p.Leu1134Arg) c.5315T>G (p.Leu1772Arg) c.3488-4155T>G (n.3488-4155T>G) c.5042T>G (p.Leu1681Arg) c.4496T>G (p.Leu1499Arg) c.4580-4155T>G (n.4580-4155T>G) c.4223T>G (p.Leu1408Arg) c.3761-4155T>G (n.3761-4155T>G) c.3674T>G (p.Leu1225Arg) c.5588T>G (p.Leu1863Arg) c.5312T>G (p.Leu1771Arg) | |
9 | g.115046496A>G | CA374630829 | TNC | c.318-4155T>C c.3215-4155T>C (n.3215-4155T>C) c.3950T>C (p.Leu1317Pro) c.1982T>C (p.Leu661Pro) c.638T>C (p.Leu213Pro) c.3997T>C c.5039T>C (p.Leu1680Pro) c.4493T>C (p.Leu1498Pro) c.4307-4155T>C (n.4307-4155T>C) n.357T>C n.253-4155T>C n.40-4155T>C c.726T>C c.4766T>C (p.Leu1589Pro) c.4034-4155T>C (n.4034-4155T>C) c.3401T>C (p.Leu1134Pro) c.5315T>C (p.Leu1772Pro) c.3488-4155T>C (n.3488-4155T>C) c.5042T>C (p.Leu1681Pro) c.4496T>C (p.Leu1499Pro) c.4580-4155T>C (n.4580-4155T>C) c.4223T>C (p.Leu1408Pro) c.3761-4155T>C (n.3761-4155T>C) c.3674T>C (p.Leu1225Pro) c.5588T>C (p.Leu1863Pro) c.5312T>C (p.Leu1771Pro) | |
9 | g.115046496A>T | CA374630831 | TNC | c.318-4155T>A c.3215-4155T>A (n.3215-4155T>A) c.3950T>A (p.Leu1317His) c.1982T>A (p.Leu661His) c.638T>A (p.Leu213His) c.3997T>A c.5039T>A (p.Leu1680His) c.4493T>A (p.Leu1498His) c.4307-4155T>A (n.4307-4155T>A) n.357T>A n.253-4155T>A n.40-4155T>A c.726T>A c.4766T>A (p.Leu1589His) c.4034-4155T>A (n.4034-4155T>A) c.3401T>A (p.Leu1134His) c.5315T>A (p.Leu1772His) c.3488-4155T>A (n.3488-4155T>A) c.5042T>A (p.Leu1681His) c.4496T>A (p.Leu1499His) c.4580-4155T>A (n.4580-4155T>A) c.4223T>A (p.Leu1408His) c.3761-4155T>A (n.3761-4155T>A) c.3674T>A (p.Leu1225His) c.5588T>A (p.Leu1863His) c.5312T>A (p.Leu1771His) | |
9 | g.115046497G>A | CA374630833 | TNC | c.318-4156C>T c.3215-4156C>T (n.3215-4156C>T) c.3949C>T (p.Leu1317Phe) c.1981C>T (p.Leu661Phe) c.637C>T (p.Leu213Phe) c.3996C>T c.5038C>T (p.Leu1680Phe) c.4492C>T (p.Leu1498Phe) c.4307-4156C>T (n.4307-4156C>T) n.356C>T n.253-4156C>T n.40-4156C>T c.725C>T c.4765C>T (p.Leu1589Phe) c.4034-4156C>T (n.4034-4156C>T) c.3400C>T (p.Leu1134Phe) c.5314C>T (p.Leu1772Phe) c.3488-4156C>T (n.3488-4156C>T) c.5041C>T (p.Leu1681Phe) c.4495C>T (p.Leu1499Phe) c.4580-4156C>T (n.4580-4156C>T) c.4222C>T (p.Leu1408Phe) c.3761-4156C>T (n.3761-4156C>T) c.3673C>T (p.Leu1225Phe) c.5587C>T (p.Leu1863Phe) c.5311C>T (p.Leu1771Phe) | |
9 | g.115046497G>C | CA374630835 | TNC | c.318-4156C>G c.3215-4156C>G (n.3215-4156C>G) c.3949C>G (p.Leu1317Val) c.1981C>G (p.Leu661Val) c.637C>G (p.Leu213Val) c.3996C>G c.5038C>G (p.Leu1680Val) c.4492C>G (p.Leu1498Val) c.4307-4156C>G (n.4307-4156C>G) n.356C>G n.253-4156C>G n.40-4156C>G c.725C>G c.4765C>G (p.Leu1589Val) c.4034-4156C>G (n.4034-4156C>G) c.3400C>G (p.Leu1134Val) c.5314C>G (p.Leu1772Val) c.3488-4156C>G (n.3488-4156C>G) c.5041C>G (p.Leu1681Val) c.4495C>G (p.Leu1499Val) c.4580-4156C>G (n.4580-4156C>G) c.4222C>G (p.Leu1408Val) c.3761-4156C>G (n.3761-4156C>G) c.3673C>G (p.Leu1225Val) c.5587C>G (p.Leu1863Val) c.5311C>G (p.Leu1771Val) | |
9 | g.115046497G>T | CA374630837 | TNC | c.318-4156C>A c.3215-4156C>A (n.3215-4156C>A) c.3949C>A (p.Leu1317Ile) c.1981C>A (p.Leu661Ile) c.637C>A (p.Leu213Ile) c.3996C>A c.5038C>A (p.Leu1680Ile) c.4492C>A (p.Leu1498Ile) c.4307-4156C>A (n.4307-4156C>A) n.356C>A n.253-4156C>A n.40-4156C>A c.725C>A c.4765C>A (p.Leu1589Ile) c.4034-4156C>A (n.4034-4156C>A) c.3400C>A (p.Leu1134Ile) c.5314C>A (p.Leu1772Ile) c.3488-4156C>A (n.3488-4156C>A) c.5041C>A (p.Leu1681Ile) c.4495C>A (p.Leu1499Ile) c.4580-4156C>A (n.4580-4156C>A) c.4222C>A (p.Leu1408Ile) c.3761-4156C>A (n.3761-4156C>A) c.3673C>A (p.Leu1225Ile) c.5587C>A (p.Leu1863Ile) c.5311C>A (p.Leu1771Ile) | |
9 | g.115046498A>C | CA466912408 | TNC | c.318-4157T>G c.3215-4157T>G (n.3215-4157T>G) c.3948T>G (p.Gly1316=) c.1980T>G (p.Gly660=) c.636T>G (p.Gly212=) c.3995T>G c.5037T>G (p.Gly1679=) c.4491T>G (p.Gly1497=) c.4307-4157T>G (n.4307-4157T>G) n.355T>G n.253-4157T>G n.40-4157T>G c.724T>G c.4764T>G (p.Gly1588=) c.4034-4157T>G (n.4034-4157T>G) c.3399T>G (p.Gly1133=) c.5313T>G (p.Gly1771=) c.3488-4157T>G (n.3488-4157T>G) c.5040T>G (p.Gly1680=) c.4494T>G (p.Gly1498=) c.4580-4157T>G (n.4580-4157T>G) c.4221T>G (p.Gly1407=) c.3761-4157T>G (n.3761-4157T>G) c.3672T>G (p.Gly1224=) c.5586T>G (p.Gly1862=) c.5310T>G (p.Gly1770=) | |
9 | g.115046498A>G | CA466912409 | TNC | c.318-4157T>C c.3215-4157T>C (n.3215-4157T>C) c.3948T>C (p.Gly1316=) c.1980T>C (p.Gly660=) c.636T>C (p.Gly212=) c.3995T>C c.5037T>C (p.Gly1679=) c.4491T>C (p.Gly1497=) c.4307-4157T>C (n.4307-4157T>C) n.355T>C n.253-4157T>C n.40-4157T>C c.724T>C c.4764T>C (p.Gly1588=) c.4034-4157T>C (n.4034-4157T>C) c.3399T>C (p.Gly1133=) c.5313T>C (p.Gly1771=) c.3488-4157T>C (n.3488-4157T>C) c.5040T>C (p.Gly1680=) c.4494T>C (p.Gly1498=) c.4580-4157T>C (n.4580-4157T>C) c.4221T>C (p.Gly1407=) c.3761-4157T>C (n.3761-4157T>C) c.3672T>C (p.Gly1224=) c.5586T>C (p.Gly1862=) c.5310T>C (p.Gly1770=) | gnomAD v4 |
9 | g.115046498A>T | CA466912410 | TNC | c.318-4157T>A c.3215-4157T>A (n.3215-4157T>A) c.3948T>A (p.Gly1316=) c.1980T>A (p.Gly660=) c.636T>A (p.Gly212=) c.3995T>A c.5037T>A (p.Gly1679=) c.4491T>A (p.Gly1497=) c.4307-4157T>A (n.4307-4157T>A) n.355T>A n.253-4157T>A n.40-4157T>A c.724T>A c.4764T>A (p.Gly1588=) c.4034-4157T>A (n.4034-4157T>A) c.3399T>A (p.Gly1133=) c.5313T>A (p.Gly1771=) c.3488-4157T>A (n.3488-4157T>A) c.5040T>A (p.Gly1680=) c.4494T>A (p.Gly1498=) c.4580-4157T>A (n.4580-4157T>A) c.4221T>A (p.Gly1407=) c.3761-4157T>A (n.3761-4157T>A) c.3672T>A (p.Gly1224=) c.5586T>A (p.Gly1862=) c.5310T>A (p.Gly1770=) | |
9 | g.115046499C>A | CA374630839 | TNC | c.318-4158G>T c.3215-4158G>T (n.3215-4158G>T) c.3947G>T (p.Gly1316Val) c.1979G>T (p.Gly660Val) c.635G>T (p.Gly212Val) c.3994G>T c.5036G>T (p.Gly1679Val) c.4490G>T (p.Gly1497Val) c.4307-4158G>T (n.4307-4158G>T) n.354G>T n.253-4158G>T n.40-4158G>T c.723G>T c.4763G>T (p.Gly1588Val) c.4034-4158G>T (n.4034-4158G>T) c.3398G>T (p.Gly1133Val) c.5312G>T (p.Gly1771Val) c.3488-4158G>T (n.3488-4158G>T) c.5039G>T (p.Gly1680Val) c.4493G>T (p.Gly1498Val) c.4580-4158G>T (n.4580-4158G>T) c.4220G>T (p.Gly1407Val) c.3761-4158G>T (n.3761-4158G>T) c.3671G>T (p.Gly1224Val) c.5585G>T (p.Gly1862Val) c.5309G>T (p.Gly1770Val) | |
9 | g.115046499C= | CA1874118889 | TNC | c.318-4158G= c.3215-4158G= (n.3215-4158G=) c.3947G= (p.Gly1316=) c.1979G= (p.Gly660=) c.635G= (p.Gly212=) c.3994G= c.5036G= (p.Gly1679=) c.4490G= (p.Gly1497=) c.4307-4158G= (n.4307-4158G=) n.354G= n.253-4158G= n.40-4158G= c.723G= c.4763G= (p.Gly1588=) c.4034-4158G= (n.4034-4158G=) c.3398G= (p.Gly1133=) c.5312G= (p.Gly1771=) c.3488-4158G= (n.3488-4158G=) c.5039G= (p.Gly1680=) c.4493G= (p.Gly1498=) c.4580-4158G= (n.4580-4158G=) c.4220G= (p.Gly1407=) c.3761-4158G= (n.3761-4158G=) c.3671G= (p.Gly1224=) c.5585G= (p.Gly1862=) c.5309G= (p.Gly1770=) | |
9 | g.115046499C>G | CA374630841 | TNC | c.318-4158G>C c.3215-4158G>C (n.3215-4158G>C) c.3947G>C (p.Gly1316Ala) c.1979G>C (p.Gly660Ala) c.635G>C (p.Gly212Ala) c.3994G>C c.5036G>C (p.Gly1679Ala) c.4490G>C (p.Gly1497Ala) c.4307-4158G>C (n.4307-4158G>C) n.354G>C n.253-4158G>C n.40-4158G>C c.723G>C c.4763G>C (p.Gly1588Ala) c.4034-4158G>C (n.4034-4158G>C) c.3398G>C (p.Gly1133Ala) c.5312G>C (p.Gly1771Ala) c.3488-4158G>C (n.3488-4158G>C) c.5039G>C (p.Gly1680Ala) c.4493G>C (p.Gly1498Ala) c.4580-4158G>C (n.4580-4158G>C) c.4220G>C (p.Gly1407Ala) c.3761-4158G>C (n.3761-4158G>C) c.3671G>C (p.Gly1224Ala) c.5585G>C (p.Gly1862Ala) c.5309G>C (p.Gly1770Ala) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.115046499C>T | CA374630843 | TNC | c.318-4158G>A c.3215-4158G>A (n.3215-4158G>A) c.3947G>A (p.Gly1316Asp) c.1979G>A (p.Gly660Asp) c.635G>A (p.Gly212Asp) c.3994G>A c.5036G>A (p.Gly1679Asp) c.4490G>A (p.Gly1497Asp) c.4307-4158G>A (n.4307-4158G>A) n.354G>A n.253-4158G>A n.40-4158G>A c.723G>A c.4763G>A (p.Gly1588Asp) c.4034-4158G>A (n.4034-4158G>A) c.3398G>A (p.Gly1133Asp) c.5312G>A (p.Gly1771Asp) c.3488-4158G>A (n.3488-4158G>A) c.5039G>A (p.Gly1680Asp) c.4493G>A (p.Gly1498Asp) c.4580-4158G>A (n.4580-4158G>A) c.4220G>A (p.Gly1407Asp) c.3761-4158G>A (n.3761-4158G>A) c.3671G>A (p.Gly1224Asp) c.5585G>A (p.Gly1862Asp) c.5309G>A (p.Gly1770Asp) | |
9 | g.115046500C>A | CA374630846 | TNC | c.318-4159G>T c.3215-4159G>T (n.3215-4159G>T) c.3946G>T (p.Gly1316Cys) c.1978G>T (p.Gly660Cys) c.634G>T (p.Gly212Cys) c.3993G>T c.5035G>T (p.Gly1679Cys) c.4489G>T (p.Gly1497Cys) c.4307-4159G>T (n.4307-4159G>T) n.353G>T n.253-4159G>T n.40-4159G>T c.722G>T c.4762G>T (p.Gly1588Cys) c.4034-4159G>T (n.4034-4159G>T) c.3397G>T (p.Gly1133Cys) c.5311G>T (p.Gly1771Cys) c.3488-4159G>T (n.3488-4159G>T) c.5038G>T (p.Gly1680Cys) c.4492G>T (p.Gly1498Cys) c.4580-4159G>T (n.4580-4159G>T) c.4219G>T (p.Gly1407Cys) c.3761-4159G>T (n.3761-4159G>T) c.3670G>T (p.Gly1224Cys) c.5584G>T (p.Gly1862Cys) c.5308G>T (p.Gly1770Cys) | |
9 | g.115046500C= | CA1874118890 | TNC | c.318-4159G= c.3215-4159G= (n.3215-4159G=) c.3946G= (p.Gly1316=) c.1978G= (p.Gly660=) c.634G= (p.Gly212=) c.3993G= c.5035G= (p.Gly1679=) c.4489G= (p.Gly1497=) c.4307-4159G= (n.4307-4159G=) n.353G= n.253-4159G= n.40-4159G= c.722G= c.4762G= (p.Gly1588=) c.4034-4159G= (n.4034-4159G=) c.3397G= (p.Gly1133=) c.5311G= (p.Gly1771=) c.3488-4159G= (n.3488-4159G=) c.5038G= (p.Gly1680=) c.4492G= (p.Gly1498=) c.4580-4159G= (n.4580-4159G=) c.4219G= (p.Gly1407=) c.3761-4159G= (n.3761-4159G=) c.3670G= (p.Gly1224=) c.5584G= (p.Gly1862=) c.5308G= (p.Gly1770=) | |
9 | g.115046500C>G | CA374630848 | TNC | c.318-4159G>C c.3215-4159G>C (n.3215-4159G>C) c.3946G>C (p.Gly1316Arg) c.1978G>C (p.Gly660Arg) c.634G>C (p.Gly212Arg) c.3993G>C c.5035G>C (p.Gly1679Arg) c.4489G>C (p.Gly1497Arg) c.4307-4159G>C (n.4307-4159G>C) n.353G>C n.253-4159G>C n.40-4159G>C c.722G>C c.4762G>C (p.Gly1588Arg) c.4034-4159G>C (n.4034-4159G>C) c.3397G>C (p.Gly1133Arg) c.5311G>C (p.Gly1771Arg) c.3488-4159G>C (n.3488-4159G>C) c.5038G>C (p.Gly1680Arg) c.4492G>C (p.Gly1498Arg) c.4580-4159G>C (n.4580-4159G>C) c.4219G>C (p.Gly1407Arg) c.3761-4159G>C (n.3761-4159G>C) c.3670G>C (p.Gly1224Arg) c.5584G>C (p.Gly1862Arg) c.5308G>C (p.Gly1770Arg) | |
9 | g.115046500C>T | CA5207769 | TNC | c.318-4159G>A c.3215-4159G>A (n.3215-4159G>A) c.3946G>A (p.Gly1316Ser) c.1978G>A (p.Gly660Ser) c.634G>A (p.Gly212Ser) c.3993G>A c.5035G>A (p.Gly1679Ser) c.4489G>A (p.Gly1497Ser) c.4307-4159G>A (n.4307-4159G>A) n.353G>A n.253-4159G>A n.40-4159G>A c.722G>A c.4762G>A (p.Gly1588Ser) c.4034-4159G>A (n.4034-4159G>A) c.3397G>A (p.Gly1133Ser) c.5311G>A (p.Gly1771Ser) c.3488-4159G>A (n.3488-4159G>A) c.5038G>A (p.Gly1680Ser) c.4492G>A (p.Gly1498Ser) c.4580-4159G>A (n.4580-4159G>A) c.4219G>A (p.Gly1407Ser) c.3761-4159G>A (n.3761-4159G>A) c.3670G>A (p.Gly1224Ser) c.5584G>A (p.Gly1862Ser) c.5308G>A (p.Gly1770Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
9 | g.115046501T>A | CA466912411 | TNC | c.318-4160A>T c.3215-4160A>T (n.3215-4160A>T) c.3945A>T (p.Thr1315=) c.1977A>T (p.Thr659=) c.633A>T (p.Thr211=) c.3992A>T c.5034A>T (p.Thr1678=) c.4488A>T (p.Thr1496=) c.4307-4160A>T (n.4307-4160A>T) n.352A>T n.253-4160A>T n.40-4160A>T c.721A>T c.4761A>T (p.Thr1587=) c.4034-4160A>T (n.4034-4160A>T) c.3396A>T (p.Thr1132=) c.5310A>T (p.Thr1770=) c.3488-4160A>T (n.3488-4160A>T) c.5037A>T (p.Thr1679=) c.4491A>T (p.Thr1497=) c.4580-4160A>T (n.4580-4160A>T) c.4218A>T (p.Thr1406=) c.3761-4160A>T (n.3761-4160A>T) c.3669A>T (p.Thr1223=) c.5583A>T (p.Thr1861=) c.5307A>T (p.Thr1769=) | |
9 | g.115046501T>C | CA466912412 | TNC | c.318-4160A>G c.3215-4160A>G (n.3215-4160A>G) c.3945A>G (p.Thr1315=) c.1977A>G (p.Thr659=) c.633A>G (p.Thr211=) c.3992A>G c.5034A>G (p.Thr1678=) c.4488A>G (p.Thr1496=) c.4307-4160A>G (n.4307-4160A>G) n.352A>G n.253-4160A>G n.40-4160A>G c.721A>G c.4761A>G (p.Thr1587=) c.4034-4160A>G (n.4034-4160A>G) c.3396A>G (p.Thr1132=) c.5310A>G (p.Thr1770=) c.3488-4160A>G (n.3488-4160A>G) c.5037A>G (p.Thr1679=) c.4491A>G (p.Thr1497=) c.4580-4160A>G (n.4580-4160A>G) c.4218A>G (p.Thr1406=) c.3761-4160A>G (n.3761-4160A>G) c.3669A>G (p.Thr1223=) c.5583A>G (p.Thr1861=) c.5307A>G (p.Thr1769=) | gnomAD v4 |
9 | g.115046501T>G | CA466912413 | TNC | c.318-4160A>C c.3215-4160A>C (n.3215-4160A>C) c.3945A>C (p.Thr1315=) c.1977A>C (p.Thr659=) c.633A>C (p.Thr211=) c.3992A>C c.5034A>C (p.Thr1678=) c.4488A>C (p.Thr1496=) c.4307-4160A>C (n.4307-4160A>C) n.352A>C n.253-4160A>C n.40-4160A>C c.721A>C c.4761A>C (p.Thr1587=) c.4034-4160A>C (n.4034-4160A>C) c.3396A>C (p.Thr1132=) c.5310A>C (p.Thr1770=) c.3488-4160A>C (n.3488-4160A>C) c.5037A>C (p.Thr1679=) c.4491A>C (p.Thr1497=) c.4580-4160A>C (n.4580-4160A>C) c.4218A>C (p.Thr1406=) c.3761-4160A>C (n.3761-4160A>C) c.3669A>C (p.Thr1223=) c.5583A>C (p.Thr1861=) c.5307A>C (p.Thr1769=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.115046501T= | CA1874118891 | TNC | c.318-4160A= c.3215-4160A= (n.3215-4160A=) c.3945A= (p.Thr1315=) c.1977A= (p.Thr659=) c.633A= (p.Thr211=) c.3992A= c.5034A= (p.Thr1678=) c.4488A= (p.Thr1496=) c.4307-4160A= (n.4307-4160A=) n.352A= n.253-4160A= n.40-4160A= c.721A= c.4761A= (p.Thr1587=) c.4034-4160A= (n.4034-4160A=) c.3396A= (p.Thr1132=) c.5310A= (p.Thr1770=) c.3488-4160A= (n.3488-4160A=) c.5037A= (p.Thr1679=) c.4491A= (p.Thr1497=) c.4580-4160A= (n.4580-4160A=) c.4218A= (p.Thr1406=) c.3761-4160A= (n.3761-4160A=) c.3669A= (p.Thr1223=) c.5583A= (p.Thr1861=) c.5307A= (p.Thr1769=) | |
9 | g.115046502G>A | CA374630853 | TNC | c.318-4161C>T c.3215-4161C>T (n.3215-4161C>T) c.3944C>T (p.Thr1315Ile) c.1976C>T (p.Thr659Ile) c.632C>T (p.Thr211Ile) c.3991C>T c.5033C>T (p.Thr1678Ile) c.4487C>T (p.Thr1496Ile) c.4307-4161C>T (n.4307-4161C>T) n.351C>T n.253-4161C>T n.40-4161C>T c.720C>T c.4760C>T (p.Thr1587Ile) c.4034-4161C>T (n.4034-4161C>T) c.3395C>T (p.Thr1132Ile) c.5309C>T (p.Thr1770Ile) c.3488-4161C>T (n.3488-4161C>T) c.5036C>T (p.Thr1679Ile) c.4490C>T (p.Thr1497Ile) c.4580-4161C>T (n.4580-4161C>T) c.4217C>T (p.Thr1406Ile) c.3761-4161C>T (n.3761-4161C>T) c.3668C>T (p.Thr1223Ile) c.5582C>T (p.Thr1861Ile) c.5306C>T (p.Thr1769Ile) | |
9 | g.115046502G>C | CA374630855 | TNC | c.318-4161C>G c.3215-4161C>G (n.3215-4161C>G) c.3944C>G (p.Thr1315Arg) c.1976C>G (p.Thr659Arg) c.632C>G (p.Thr211Arg) c.3991C>G c.5033C>G (p.Thr1678Arg) c.4487C>G (p.Thr1496Arg) c.4307-4161C>G (n.4307-4161C>G) n.351C>G n.253-4161C>G n.40-4161C>G c.720C>G c.4760C>G (p.Thr1587Arg) c.4034-4161C>G (n.4034-4161C>G) c.3395C>G (p.Thr1132Arg) c.5309C>G (p.Thr1770Arg) c.3488-4161C>G (n.3488-4161C>G) c.5036C>G (p.Thr1679Arg) c.4490C>G (p.Thr1497Arg) c.4580-4161C>G (n.4580-4161C>G) c.4217C>G (p.Thr1406Arg) c.3761-4161C>G (n.3761-4161C>G) c.3668C>G (p.Thr1223Arg) c.5582C>G (p.Thr1861Arg) c.5306C>G (p.Thr1769Arg) | |
9 | g.115046502G>T | CA374630851 | TNC | c.318-4161C>A c.3215-4161C>A (n.3215-4161C>A) c.3944C>A (p.Thr1315Lys) c.1976C>A (p.Thr659Lys) c.632C>A (p.Thr211Lys) c.3991C>A c.5033C>A (p.Thr1678Lys) c.4487C>A (p.Thr1496Lys) c.4307-4161C>A (n.4307-4161C>A) n.351C>A n.253-4161C>A n.40-4161C>A c.720C>A c.4760C>A (p.Thr1587Lys) c.4034-4161C>A (n.4034-4161C>A) c.3395C>A (p.Thr1132Lys) c.5309C>A (p.Thr1770Lys) c.3488-4161C>A (n.3488-4161C>A) c.5036C>A (p.Thr1679Lys) c.4490C>A (p.Thr1497Lys) c.4580-4161C>A (n.4580-4161C>A) c.4217C>A (p.Thr1406Lys) c.3761-4161C>A (n.3761-4161C>A) c.3668C>A (p.Thr1223Lys) c.5582C>A (p.Thr1861Lys) c.5306C>A (p.Thr1769Lys) | |
9 | g.115046503T>A | CA374630857 | TNC | c.318-4162A>T c.3215-4162A>T (n.3215-4162A>T) c.3943A>T (p.Thr1315Ser) c.1975A>T (p.Thr659Ser) c.631A>T (p.Thr211Ser) c.3990A>T c.5032A>T (p.Thr1678Ser) c.4486A>T (p.Thr1496Ser) c.4307-4162A>T (n.4307-4162A>T) n.350A>T n.253-4162A>T n.40-4162A>T c.719A>T c.4759A>T (p.Thr1587Ser) c.4034-4162A>T (n.4034-4162A>T) c.3394A>T (p.Thr1132Ser) c.5308A>T (p.Thr1770Ser) c.3488-4162A>T (n.3488-4162A>T) c.5035A>T (p.Thr1679Ser) c.4489A>T (p.Thr1497Ser) c.4580-4162A>T (n.4580-4162A>T) c.4216A>T (p.Thr1406Ser) c.3761-4162A>T (n.3761-4162A>T) c.3667A>T (p.Thr1223Ser) c.5581A>T (p.Thr1861Ser) c.5305A>T (p.Thr1769Ser) | |
9 | g.115046503T>C | CA374630859 | TNC | c.318-4162A>G c.3215-4162A>G (n.3215-4162A>G) c.3943A>G (p.Thr1315Ala) c.1975A>G (p.Thr659Ala) c.631A>G (p.Thr211Ala) c.3990A>G c.5032A>G (p.Thr1678Ala) c.4486A>G (p.Thr1496Ala) c.4307-4162A>G (n.4307-4162A>G) n.350A>G n.253-4162A>G n.40-4162A>G c.719A>G c.4759A>G (p.Thr1587Ala) c.4034-4162A>G (n.4034-4162A>G) c.3394A>G (p.Thr1132Ala) c.5308A>G (p.Thr1770Ala) c.3488-4162A>G (n.3488-4162A>G) c.5035A>G (p.Thr1679Ala) c.4489A>G (p.Thr1497Ala) c.4580-4162A>G (n.4580-4162A>G) c.4216A>G (p.Thr1406Ala) c.3761-4162A>G (n.3761-4162A>G) c.3667A>G (p.Thr1223Ala) c.5581A>G (p.Thr1861Ala) c.5305A>G (p.Thr1769Ala) | |
9 | g.115046503T>G | CA374630861 | TNC | c.318-4162A>C c.3215-4162A>C (n.3215-4162A>C) c.3943A>C (p.Thr1315Pro) c.1975A>C (p.Thr659Pro) c.631A>C (p.Thr211Pro) c.3990A>C c.5032A>C (p.Thr1678Pro) c.4486A>C (p.Thr1496Pro) c.4307-4162A>C (n.4307-4162A>C) n.350A>C n.253-4162A>C n.40-4162A>C c.719A>C c.4759A>C (p.Thr1587Pro) c.4034-4162A>C (n.4034-4162A>C) c.3394A>C (p.Thr1132Pro) c.5308A>C (p.Thr1770Pro) c.3488-4162A>C (n.3488-4162A>C) c.5035A>C (p.Thr1679Pro) c.4489A>C (p.Thr1497Pro) c.4580-4162A>C (n.4580-4162A>C) c.4216A>C (p.Thr1406Pro) c.3761-4162A>C (n.3761-4162A>C) c.3667A>C (p.Thr1223Pro) c.5581A>C (p.Thr1861Pro) c.5305A>C (p.Thr1769Pro) | |
9 | g.115046504T>A | CA466912416 | TNC | c.318-4163A>T c.3215-4163A>T (n.3215-4163A>T) c.3942A>T (p.Ile1314=) c.1974A>T (p.Ile658=) c.630A>T (p.Ile210=) c.3989A>T c.5031A>T (p.Ile1677=) c.4485A>T (p.Ile1495=) c.4307-4163A>T (n.4307-4163A>T) n.349A>T n.253-4163A>T n.40-4163A>T c.718A>T c.4758A>T (p.Ile1586=) c.4034-4163A>T (n.4034-4163A>T) c.3393A>T (p.Ile1131=) c.5307A>T (p.Ile1769=) c.3488-4163A>T (n.3488-4163A>T) c.5034A>T (p.Ile1678=) c.4488A>T (p.Ile1496=) c.4580-4163A>T (n.4580-4163A>T) c.4215A>T (p.Ile1405=) c.3761-4163A>T (n.3761-4163A>T) c.3666A>T (p.Ile1222=) c.5580A>T (p.Ile1860=) c.5304A>T (p.Ile1768=) | |
9 | g.115046504T>C | CA374630863 | TNC | c.318-4163A>G c.3215-4163A>G (n.3215-4163A>G) c.3942A>G (p.Ile1314Met) c.1974A>G (p.Ile658Met) c.630A>G (p.Ile210Met) c.3989A>G c.5031A>G (p.Ile1677Met) c.4485A>G (p.Ile1495Met) c.4307-4163A>G (n.4307-4163A>G) n.349A>G n.253-4163A>G n.40-4163A>G c.718A>G c.4758A>G (p.Ile1586Met) c.4034-4163A>G (n.4034-4163A>G) c.3393A>G (p.Ile1131Met) c.5307A>G (p.Ile1769Met) c.3488-4163A>G (n.3488-4163A>G) c.5034A>G (p.Ile1678Met) c.4488A>G (p.Ile1496Met) c.4580-4163A>G (n.4580-4163A>G) c.4215A>G (p.Ile1405Met) c.3761-4163A>G (n.3761-4163A>G) c.3666A>G (p.Ile1222Met) c.5580A>G (p.Ile1860Met) c.5304A>G (p.Ile1768Met) | |
9 | g.115046504T>G | CA466912415 | TNC | c.318-4163A>C c.3215-4163A>C (n.3215-4163A>C) c.3942A>C (p.Ile1314=) c.1974A>C (p.Ile658=) c.630A>C (p.Ile210=) c.3989A>C c.5031A>C (p.Ile1677=) c.4485A>C (p.Ile1495=) c.4307-4163A>C (n.4307-4163A>C) n.349A>C n.253-4163A>C n.40-4163A>C c.718A>C c.4758A>C (p.Ile1586=) c.4034-4163A>C (n.4034-4163A>C) c.3393A>C (p.Ile1131=) c.5307A>C (p.Ile1769=) c.3488-4163A>C (n.3488-4163A>C) c.5034A>C (p.Ile1678=) c.4488A>C (p.Ile1496=) c.4580-4163A>C (n.4580-4163A>C) c.4215A>C (p.Ile1405=) c.3761-4163A>C (n.3761-4163A>C) c.3666A>C (p.Ile1222=) c.5580A>C (p.Ile1860=) c.5304A>C (p.Ile1768=) | |
9 | g.115046505A>C | CA374630865 | TNC | c.318-4164T>G c.3215-4164T>G (n.3215-4164T>G) c.3941T>G (p.Ile1314Arg) c.1973T>G (p.Ile658Arg) c.629T>G (p.Ile210Arg) c.3988T>G c.5030T>G (p.Ile1677Arg) c.4484T>G (p.Ile1495Arg) c.4307-4164T>G (n.4307-4164T>G) n.348T>G n.253-4164T>G n.40-4164T>G c.717T>G c.4757T>G (p.Ile1586Arg) c.4034-4164T>G (n.4034-4164T>G) c.3392T>G (p.Ile1131Arg) c.5306T>G (p.Ile1769Arg) c.3488-4164T>G (n.3488-4164T>G) c.5033T>G (p.Ile1678Arg) c.4487T>G (p.Ile1496Arg) c.4580-4164T>G (n.4580-4164T>G) c.4214T>G (p.Ile1405Arg) c.3761-4164T>G (n.3761-4164T>G) c.3665T>G (p.Ile1222Arg) c.5579T>G (p.Ile1860Arg) c.5303T>G (p.Ile1768Arg) | |
9 | g.115046505A>G | CA374630866 | TNC | c.318-4164T>C c.3215-4164T>C (n.3215-4164T>C) c.3941T>C (p.Ile1314Thr) c.1973T>C (p.Ile658Thr) c.629T>C (p.Ile210Thr) c.3988T>C c.5030T>C (p.Ile1677Thr) c.4484T>C (p.Ile1495Thr) c.4307-4164T>C (n.4307-4164T>C) n.348T>C n.253-4164T>C n.40-4164T>C c.717T>C c.4757T>C (p.Ile1586Thr) c.4034-4164T>C (n.4034-4164T>C) c.3392T>C (p.Ile1131Thr) c.5306T>C (p.Ile1769Thr) c.3488-4164T>C (n.3488-4164T>C) c.5033T>C (p.Ile1678Thr) c.4487T>C (p.Ile1496Thr) c.4580-4164T>C (n.4580-4164T>C) c.4214T>C (p.Ile1405Thr) c.3761-4164T>C (n.3761-4164T>C) c.3665T>C (p.Ile1222Thr) c.5579T>C (p.Ile1860Thr) c.5303T>C (p.Ile1768Thr) | gnomAD v4 |
9 | g.115046505A>T | CA374630868 | TNC | c.318-4164T>A c.3215-4164T>A (n.3215-4164T>A) c.3941T>A (p.Ile1314Lys) c.1973T>A (p.Ile658Lys) c.629T>A (p.Ile210Lys) c.3988T>A c.5030T>A (p.Ile1677Lys) c.4484T>A (p.Ile1495Lys) c.4307-4164T>A (n.4307-4164T>A) n.348T>A n.253-4164T>A n.40-4164T>A c.717T>A c.4757T>A (p.Ile1586Lys) c.4034-4164T>A (n.4034-4164T>A) c.3392T>A (p.Ile1131Lys) c.5306T>A (p.Ile1769Lys) c.3488-4164T>A (n.3488-4164T>A) c.5033T>A (p.Ile1678Lys) c.4487T>A (p.Ile1496Lys) c.4580-4164T>A (n.4580-4164T>A) c.4214T>A (p.Ile1405Lys) c.3761-4164T>A (n.3761-4164T>A) c.3665T>A (p.Ile1222Lys) c.5579T>A (p.Ile1860Lys) c.5303T>A (p.Ile1768Lys) |