2116376 |
c.670G>T |
p.G224C |
Chr.1:
107057385-107057385
on Build GRCh38
|
6756301 |
c.674T>A |
p.F225Y |
Chr.1:
107057389-107057389
on Build GRCh38
|
4614643 |
c.352_353insT |
p.R119fs*32 |
Chr.1:
107057387-107057388
on Build GRCh38
|
2116377 |
c.493G>T |
p.G165C |
Chr.1:
107057385-107057385
on Build GRCh38
|
6364527 |
c.405C>T |
p.V135V |
Chr.1:
107057440-107057440
on Build GRCh38
|
7088573 |
c.574_575insAGCGCGG |
p.F194fs*>126 |
Chr.1:
107057466-107057467
on Build GRCh38
|
1725901 |
c.740T>A |
p.L247Q |
Chr.1:
107057455-107057455
on Build GRCh38
|
200622 |
c.384C>A |
p.A128A |
Chr.1:
107057276-107057276
on Build GRCh38
|
3688847 |
c.736G>A |
p.V246M |
Chr.1:
107057451-107057451
on Build GRCh38
|
4883627 |
c.236C>A |
p.A79D |
Chr.1:
107057271-107057271
on Build GRCh38
|
6756303 |
c.354T>A |
p.L118L |
Chr.1:
107057389-107057389
on Build GRCh38
|
4717894 |
c.269A>G |
p.Q90R |
Chr.1:
107057304-107057304
on Build GRCh38
|
5353160 |
c.387C>T |
p.S129S |
Chr.1:
107057279-107057279
on Build GRCh38
|
6120205 |
c.708C>G |
p.I236M |
Chr.1:
107057423-107057423
on Build GRCh38
|
4614642 |
c.495_496insT |
p.A167fs*>151 |
Chr.1:
107057387-107057388
on Build GRCh38
|
1263129 |
c.495C>A |
p.G165G |
Chr.1:
107057387-107057387
on Build GRCh38
|
6364525 |
c.725C>T |
p.S242F |
Chr.1:
107057440-107057440
on Build GRCh38
|
4717893 |
c.412A>G |
p.S138G |
Chr.1:
107057304-107057304
on Build GRCh38
|
1667761 |
c.566C>T |
p.A189V |
Chr.1:
107057458-107057458
on Build GRCh38
|
4217110 |
c.407G>C |
p.R136P |
Chr.1:
107057442-107057442
on Build GRCh38
|
1583220 |
c.618_619insT |
p.W208fs*>169 |
Chr.1:
107057333-107057334
on Build GRCh38
|
4717892 |
c.589A>G |
p.S197G |
Chr.1:
107057304-107057304
on Build GRCh38
|
6756302 |
c.497T>A |
p.F166Y |
Chr.1:
107057389-107057389
on Build GRCh38
|
6120206 |
c.531C>G |
p.I177M |
Chr.1:
107057423-107057423
on Build GRCh38
|
5735567 |
c.662G>A |
p.C221Y |
Chr.1:
107057377-107057377
on Build GRCh38
|
6364526 |
c.548C>T |
p.S183F |
Chr.1:
107057440-107057440
on Build GRCh38
|
3735913 |
c.404C>T |
p.A135V |
Chr.1:
107057296-107057296
on Build GRCh38
|
7088574 |
c.431_432insAGCGCGG |
p.L146fs*7 |
Chr.1:
107057466-107057467
on Build GRCh38
|
7088572 |
c.751_752insAGCGCGG |
p.F253fs*>126 |
Chr.1:
107057466-107057467
on Build GRCh38
|
3735912 |
c.581C>T |
p.A194V |
Chr.1:
107057296-107057296
on Build GRCh38
|
5735568 |
c.485G>A |
p.C162Y |
Chr.1:
107057377-107057377
on Build GRCh38
|
3688848 |
c.559G>A |
p.V187M |
Chr.1:
107057451-107057451
on Build GRCh38
|
6863197 |
c.272G>T |
p.R91L |
Chr.1:
107057307-107057307
on Build GRCh38
|
893293 |
c.441_442insT |
p.W149fs*>169 |
Chr.1:
107057333-107057334
on Build GRCh38
|
5698714 |
c.349A>T |
p.K117* |
Chr.1:
107057241-107057241
on Build GRCh38
|
6863195 |
c.592G>T |
p.D198Y |
Chr.1:
107057307-107057307
on Build GRCh38
|
5698713 |
c.526A>T |
p.K176* |
Chr.1:
107057241-107057241
on Build GRCh38
|
3384980 |
c.217G>A |
p.G73R |
Chr.1:
107057252-107057252
on Build GRCh38
|
7310009 |
c.420T>A |
p.A140A |
Chr.1:
107057455-107057455
on Build GRCh38
|
2116381 |
c.550G>C |
p.G184R |
Chr.1:
107057442-107057442
on Build GRCh38
|
4883626 |
c.379C>A |
p.P127T |
Chr.1:
107057271-107057271
on Build GRCh38
|
6588505 |
c.675C>T |
p.F225F |
Chr.1:
107057390-107057390
on Build GRCh38
|
6863196 |
c.415G>T |
p.D139Y |
Chr.1:
107057307-107057307
on Build GRCh38
|
6357324 |
c.324A>G |
p.L108L |
Chr.1:
107057359-107057359
on Build GRCh38
|
1667760 |
c.743C>T |
p.A248V |
Chr.1:
107057458-107057458
on Build GRCh38
|
5353159 |
c.564C>T |
p.S188S |
Chr.1:
107057279-107057279
on Build GRCh38
|
6756309 |
c.689T>G |
p.L230R |
Chr.1:
107057404-107057404
on Build GRCh38
|
3384978 |
c.537G>A |
p.K179K |
Chr.1:
107057252-107057252
on Build GRCh38
|
7311100 |
c.551G>A |
p.G184D |
Chr.1:
107057443-107057443
on Build GRCh38
|
6588507 |
c.355C>T |
p.R119C |
Chr.1:
107057390-107057390
on Build GRCh38
|
284282 |
c.366C>T |
p.G122G |
Chr.1:
107057258-107057258
on Build GRCh38
|
2116380 |
c.727G>C |
p.G243R |
Chr.1:
107057442-107057442
on Build GRCh38
|
674522 |
c.569G>A |
p.R190Q |
Chr.1:
107057461-107057461
on Build GRCh38
|
1470120 |
c.513C>T |
p.L171L |
Chr.1:
107057405-107057405
on Build GRCh38
|
6588506 |
c.498C>T |
p.F166F |
Chr.1:
107057390-107057390
on Build GRCh38
|
4614641 |
c.672_673insT |
p.A226fs*>151 |
Chr.1:
107057387-107057388
on Build GRCh38
|
1470119 |
c.690C>T |
p.L230L |
Chr.1:
107057405-107057405
on Build GRCh38
|
6120207 |
c.388C>G |
p.R130G |
Chr.1:
107057423-107057423
on Build GRCh38
|
1725902 |
c.563T>A |
p.L188Q |
Chr.1:
107057455-107057455
on Build GRCh38
|
4883625 |
c.556C>A |
p.P186T |
Chr.1:
107057271-107057271
on Build GRCh38
|
6756310 |
c.512T>G |
p.L171R |
Chr.1:
107057404-107057404
on Build GRCh38
|
1583221 |
c.605A>C |
p.E202A |
Chr.1:
107057320-107057320
on Build GRCh38
|
6357322 |
c.644A>G |
p.Y215C |
Chr.1:
107057359-107057359
on Build GRCh38
|
4217111 |
c.423C>T |
p.G141G |
Chr.1:
107057458-107057458
on Build GRCh38
|
4217109 |
c.350G>T |
p.G117V |
Chr.1:
107057385-107057385
on Build GRCh38
|
5495740 |
c.370C>T |
p.H124Y |
Chr.1:
107057405-107057405
on Build GRCh38
|
3688849 |
c.416G>A |
p.R139H |
Chr.1:
107057451-107057451
on Build GRCh38
|
7311101 |
c.408G>A |
p.R136R |
Chr.1:
107057443-107057443
on Build GRCh38
|
5735569 |
c.342G>A |
p.L114L |
Chr.1:
107057377-107057377
on Build GRCh38
|
5698715 |
c.206A>T |
p.Q69L |
Chr.1:
107057241-107057241
on Build GRCh38
|
6357323 |
c.467A>G |
p.Y156C |
Chr.1:
107057359-107057359
on Build GRCh38
|
3735914 |
c.261C>T |
p.S87S |
Chr.1:
107057296-107057296
on Build GRCh38
|
1263128 |
c.672C>A |
p.G224G |
Chr.1:
107057387-107057387
on Build GRCh38
|
893292 |
c.428A>C |
p.E143A |
Chr.1:
107057320-107057320
on Build GRCh38
|
3384979 |
c.360G>A |
p.K120K |
Chr.1:
107057252-107057252
on Build GRCh38
|
6756311 |
c.369T>G |
p.S123S |
Chr.1:
107057404-107057404
on Build GRCh38
|
5353161 |
c.244C>T |
p.R82C |
Chr.1:
107057279-107057279
on Build GRCh38
|
7311099 |
c.728G>A |
p.G243D |
Chr.1:
107057443-107057443
on Build GRCh38
|