2155758 |
c.136T>A |
p.F46I |
Chr.17:
43399868-43399868
on Build GRCh38
|
2155757 |
c.128T>C |
p.F43S |
Chr.17:
43399860-43399860
on Build GRCh38
|
5689125 |
c.133G>A |
p.E45K |
Chr.17:
43399865-43399865
on Build GRCh38
|
2155756 |
c.129C>G |
p.F43L |
Chr.17:
43399861-43399861
on Build GRCh38
|
5578064 |
c.341T>C |
p.V114A |
Chr.17:
43400073-43400073
on Build GRCh38
|
2155755 |
c.127T>A |
p.F43I |
Chr.17:
43399859-43399859
on Build GRCh38
|
5564127 |
c.322C>T |
p.R108W |
Chr.17:
43400054-43400054
on Build GRCh38
|
243053 |
c.334G>A |
p.A112T |
Chr.17:
43400066-43400066
on Build GRCh38
|
2155787 |
c.131A>T |
p.K44M |
Chr.17:
43399863-43399863
on Build GRCh38
|
6147006 |
c.232G>T |
p.G78W |
Chr.17:
43399964-43399964
on Build GRCh38
|
2155786 |
c.130A>G |
p.K44E |
Chr.17:
43399862-43399862
on Build GRCh38
|
6147005 |
c.275G>T |
p.R92L |
Chr.17:
43400007-43400007
on Build GRCh38
|
2155785 |
c.126G>C |
p.K42N |
Chr.17:
43399858-43399858
on Build GRCh38
|
5116376 |
c.231_232insG |
p.Q80fs*28 |
Chr.17:
43399963-43399964
on Build GRCh38
|
1383545 |
c.262C>T |
p.R88C |
Chr.17:
43399994-43399994
on Build GRCh38
|
979764 |
c.251G>A |
p.R84Q |
Chr.17:
43399983-43399983
on Build GRCh38
|
2155750 |
c.134A>G |
p.E45G |
Chr.17:
43399866-43399866
on Build GRCh38
|
5443693 |
c.172G>C |
p.E58Q |
Chr.17:
43399904-43399904
on Build GRCh38
|
2155749 |
c.135G>A |
p.E45E |
Chr.17:
43399867-43399867
on Build GRCh38
|
2155748 |
c.133G>T |
p.E45* |
Chr.17:
43399865-43399865
on Build GRCh38
|
1718090 |
c.339G>A |
p.K113K |
Chr.17:
43400071-43400071
on Build GRCh38
|
6604828 |
c.278G>A |
p.R93Q |
Chr.17:
43400010-43400010
on Build GRCh38
|
6604827 |
c.181C>T |
p.R61W |
Chr.17:
43399913-43399913
on Build GRCh38
|
4066784 |
c.210C>T |
p.I70I |
Chr.17:
43399942-43399942
on Build GRCh38
|
5004867 |
c.172G>A |
p.E58K |
Chr.17:
43399904-43399904
on Build GRCh38
|
1245479 |
c.285C>T |
p.D95D |
Chr.17:
43400017-43400017
on Build GRCh38
|
1183606 |
c.274C>T |
p.R92C |
Chr.17:
43400006-43400006
on Build GRCh38
|
7301670 |
c.286G>A |
p.G96S |
Chr.17:
43400018-43400018
on Build GRCh38
|
4619082 |
c.119G>A |
p.R40H |
Chr.17:
43399851-43399851
on Build GRCh38
|
7105973 |
c.192C>T |
p.L64L |
Chr.17:
43399924-43399924
on Build GRCh38
|
6604822 |
c.118C>A |
p.R40S |
Chr.17:
43399850-43399850
on Build GRCh38
|
3190274 |
c.132G>A |
p.K44K |
Chr.17:
43399864-43399864
on Build GRCh38
|
301521 |
c.285_286CG>GT |
p.D95>? |
Chr.17:
43400017-43400018
on Build GRCh38
|
6604826 |
c.200C>T |
p.S67L |
Chr.17:
43399932-43399932
on Build GRCh38
|
3772929 |
c.323G>A |
p.R108Q |
Chr.17:
43400055-43400055
on Build GRCh38
|
3517916 |
c.277C>T |
p.R93W |
Chr.17:
43400009-43400009
on Build GRCh38
|
6604823 |
c.263G>A |
p.R88H |
Chr.17:
43399995-43399995
on Build GRCh38
|