3041073 |
c.1167C>T |
p.D389D |
Chr.2:
118842950-118842950
on Build GRCh38
|
4902725 |
c.1126G>A |
p.G376R |
Chr.2:
118842991-118842991
on Build GRCh38
|
3041076 |
c.1077G>A |
p.K359K |
Chr.2:
118843040-118843040
on Build GRCh38
|
6053427 |
c.1150A>T |
p.T384S |
Chr.2:
118842967-118842967
on Build GRCh38
|
4932863 |
c.1044G>T |
p.K348N |
Chr.2:
118843073-118843073
on Build GRCh38
|
3041077 |
c.1065C>T |
p.R355R |
Chr.2:
118843052-118843052
on Build GRCh38
|
7170292 |
c.1020C>T |
p.L340L |
Chr.2:
118843097-118843097
on Build GRCh38
|
7211398 |
c.1022G>T |
p.S341I |
Chr.2:
118843095-118843095
on Build GRCh38
|
7235707 |
c.968A>C |
p.Q323P |
Chr.2:
118843149-118843149
on Build GRCh38
|
337726 |
c.1005C>G |
p.T335T |
Chr.2:
118843112-118843112
on Build GRCh38
|
3694839 |
c.1108C>T |
p.L370L |
Chr.2:
118843009-118843009
on Build GRCh38
|
374361 |
c.1059C>A |
p.N353K |
Chr.2:
118843058-118843058
on Build GRCh38
|
5143471 |
c.960G>A |
p.A320A |
Chr.2:
118843157-118843157
on Build GRCh38
|
3797881 |
c.1092C>G |
p.I364M |
Chr.2:
118843025-118843025
on Build GRCh38
|
1005888 |
c.1066G>A |
p.A356T |
Chr.2:
118843051-118843051
on Build GRCh38
|
1005889 |
c.964T>C |
p.F322L |
Chr.2:
118843153-118843153
on Build GRCh38
|
3797882 |
c.1074C>T |
p.I358I |
Chr.2:
118843043-118843043
on Build GRCh38
|
1005890 |
c.950G>T |
p.R317I |
Chr.2:
118843167-118843167
on Build GRCh38
|
6542970 |
c.1151C>A |
p.T384K |
Chr.2:
118842966-118842966
on Build GRCh38
|
383275 |
c.994C>T |
p.R332W |
Chr.2:
118843123-118843123
on Build GRCh38
|
1205300 |
c.1088G>A |
p.G363D |
Chr.2:
118843029-118843029
on Build GRCh38
|
400231 |
c.997C>A |
p.R333R |
Chr.2:
118843120-118843120
on Build GRCh38
|
6653939 |
c.1161delC |
p.D387fs*>6 |
Chr.2:
118842956-118842956
on Build GRCh38
|
4084444 |
c.1100G>A |
p.G367D |
Chr.2:
118843017-118843017
on Build GRCh38
|
1251180 |
c.1176G>A |
p.E392E |
Chr.2:
118842941-118842941
on Build GRCh38
|
6653942 |
c.1055A>G |
p.Q352R |
Chr.2:
118843062-118843062
on Build GRCh38
|
1399029 |
c.1063C>T |
p.R355C |
Chr.2:
118843054-118843054
on Build GRCh38
|
1481884 |
c.1106C>T |
p.A369V |
Chr.2:
118843011-118843011
on Build GRCh38
|
441048 |
c.1125G>T |
p.Q375H |
Chr.2:
118842992-118842992
on Build GRCh38
|
5736183 |
c.977G>A |
p.R326H |
Chr.2:
118843140-118843140
on Build GRCh38
|
1669231 |
c.1168G>A |
p.E390K |
Chr.2:
118842949-118842949
on Build GRCh38
|
6653948 |
c.991C>A |
p.Q331K |
Chr.2:
118843126-118843126
on Build GRCh38
|
4456494 |
c.1011C>T |
p.A337A |
Chr.2:
118843106-118843106
on Build GRCh38
|
1690970 |
c.1036C>T |
p.Q346* |
Chr.2:
118843081-118843081
on Build GRCh38
|
5755804 |
c.1071G>T |
p.K357N |
Chr.2:
118843046-118843046
on Build GRCh38
|
4457360 |
c.1041C>T |
p.I347I |
Chr.2:
118843076-118843076
on Build GRCh38
|
1690971 |
c.1034C>G |
p.S345C |
Chr.2:
118843083-118843083
on Build GRCh38
|
232252 |
c.1153G>A |
p.V385I |
Chr.2:
118842964-118842964
on Build GRCh38
|
4639096 |
c.1155C>T |
p.V385V |
Chr.2:
118842962-118842962
on Build GRCh38
|
4680942 |
c.1172G>A |
p.S391N |
Chr.2:
118842945-118842945
on Build GRCh38
|
280794 |
c.1064G>A |
p.R355H |
Chr.2:
118843053-118843053
on Build GRCh38
|