4754537 |
c.1145G>A |
p.R382H |
Chr.17:
49818001-49818001
on Build GRCh38
|
356049 |
c.1118A>C |
p.K373T |
Chr.17:
49817974-49817974
on Build GRCh38
|
4788603 |
c.1146C>A |
p.R382R |
Chr.17:
49818002-49818002
on Build GRCh38
|
3701236 |
c.1155+8G>T |
p.? |
Chr.17:
49818019-49818019
on Build GRCh38
|
162770 |
c.966G>A |
p.E322E |
Chr.17:
49817822-49817822
on Build GRCh38
|
1630251 |
c.1147C>T |
p.R383W |
Chr.17:
49818003-49818003
on Build GRCh38
|
1384121 |
c.966G>T |
p.E322D |
Chr.17:
49817822-49817822
on Build GRCh38
|
3518951 |
c.1067C>T |
p.P356L |
Chr.17:
49817923-49817923
on Build GRCh38
|
472970 |
c.1097A>G |
p.Y366C |
Chr.17:
49817953-49817953
on Build GRCh38
|
4451010 |
c.1017A>G |
p.T339T |
Chr.17:
49817873-49817873
on Build GRCh38
|
980852 |
c.1110C>A |
p.F370L |
Chr.17:
49817966-49817966
on Build GRCh38
|
6690243 |
c.978G>A |
p.L326L |
Chr.17:
49817834-49817834
on Build GRCh38
|
4694068 |
c.1026T>A |
p.F342L |
Chr.17:
49817882-49817882
on Build GRCh38
|
2698481 |
c.1003A>C |
p.N335H |
Chr.17:
49817859-49817859
on Build GRCh38
|
2698482 |
c.1030C>T |
p.R344C |
Chr.17:
49817886-49817886
on Build GRCh38
|
6690239 |
c.1137G>A |
p.T379T |
Chr.17:
49817993-49817993
on Build GRCh38
|
5894635 |
c.1066C>T |
p.P356S |
Chr.17:
49817922-49817922
on Build GRCh38
|
2698484 |
c.1081C>T |
p.R361W |
Chr.17:
49817937-49817937
on Build GRCh38
|
1194448 |
c.1119A>C |
p.K373N |
Chr.17:
49817975-49817975
on Build GRCh38
|
252636 |
c.1154T>C |
p.M385T |
Chr.17:
49818010-49818010
on Build GRCh38
|
6580178 |
c.1091_1102del12 |
p.L365_C368delLYMC |
Chr.17:
49817947-49817958
on Build GRCh38
|
3958510 |
c.974G>C |
p.R325T |
Chr.17:
49817830-49817830
on Build GRCh38
|
7181597 |
c.1110_1111insTGTT |
p.K373fs*25 |
Chr.17:
49817966-49817967
on Build GRCh38
|
5614463 |
c.975G>C |
p.R325S |
Chr.17:
49817831-49817831
on Build GRCh38
|
6418699 |
c.1031G>A |
p.R344H |
Chr.17:
49817887-49817887
on Build GRCh38
|