3969533 |
c.553T>A |
p.C185S |
Chr.16:
30570194-30570194
on Build GRCh38
|
6049386 |
c.383T>G |
p.V128G |
Chr.16:
30570364-30570364
on Build GRCh38
|
6452992 |
c.515C>T |
p.T172M |
Chr.16:
30570190-30570190
on Build GRCh38
|
4744725 |
c.462G>A |
p.P154P |
Chr.16:
30570243-30570243
on Build GRCh38
|
1377415 |
c.669C>T |
p.S223S |
Chr.16:
30570036-30570036
on Build GRCh38
|
4509055 |
c.795C>T |
p.F265F |
Chr.16:
30569952-30569952
on Build GRCh38
|
1478790 |
c.725G>C |
p.R242P |
Chr.16:
30569980-30569980
on Build GRCh38
|
4744716 |
c.782C>T |
p.P261L |
Chr.16:
30569965-30569965
on Build GRCh38
|
5384740 |
c.460_461CC>GT |
p.P154V |
Chr.16:
30570244-30570245
on Build GRCh38
|
3112434 |
c.710C>A |
p.P237H |
Chr.16:
30569995-30569995
on Build GRCh38
|
6832454 |
c.754C>T |
p.R252W |
Chr.16:
30569993-30569993
on Build GRCh38
|
1377418 |
c.564C>T |
p.C188C |
Chr.16:
30570183-30570183
on Build GRCh38
|
3112452 |
c.304G>T |
p.E102* |
Chr.16:
30570401-30570401
on Build GRCh38
|
4744724 |
c.504G>A |
p.P168P |
Chr.16:
30570243-30570243
on Build GRCh38
|
969875 |
c.672C>T |
p.F224F |
Chr.16:
30570075-30570075
on Build GRCh38
|
1724713 |
c.782_783insC |
p.P262fs*>16 |
Chr.16:
30569964-30569965
on Build GRCh38
|
3672229 |
c.672G>T |
p.G224G |
Chr.16:
30570033-30570033
on Build GRCh38
|
4855309 |
c.660C>T |
p.F220F |
Chr.16:
30570087-30570087
on Build GRCh38
|
3112439 |
c.686A>G |
p.H229R |
Chr.16:
30570061-30570061
on Build GRCh38
|
6002001 |
c.440C>T |
p.P147L |
Chr.16:
30570265-30570265
on Build GRCh38
|
3817796 |
c.281A>G |
p.N94S |
Chr.16:
30570424-30570424
on Build GRCh38
|
5479099 |
c.767G>A |
p.R256Q |
Chr.16:
30569980-30569980
on Build GRCh38
|
3402270 |
c.704C>T |
p.S235F |
Chr.16:
30570043-30570043
on Build GRCh38
|
4509056 |
c.753C>T |
p.F251F |
Chr.16:
30569952-30569952
on Build GRCh38
|
5565246 |
c.775C>T |
p.R259W |
Chr.16:
30569972-30569972
on Build GRCh38
|
1152974 |
c.584G>A |
p.R195Q |
Chr.16:
30570121-30570121
on Build GRCh38
|
3729643 |
c.763G>A |
p.V255I |
Chr.16:
30569984-30569984
on Build GRCh38
|
6398875 |
c.739C>T |
p.P247S |
Chr.16:
30569966-30569966
on Build GRCh38
|
5776801 |
c.481C>T |
p.P161S |
Chr.16:
30570266-30570266
on Build GRCh38
|
6522762 |
c.584G>T |
p.R195L |
Chr.16:
30570121-30570121
on Build GRCh38
|
4744719 |
c.614G>A |
p.R205H |
Chr.16:
30570091-30570091
on Build GRCh38
|
6049388 |
c.382G>A |
p.V128M |
Chr.16:
30570365-30570365
on Build GRCh38
|
1377417 |
c.561C>T |
p.H187H |
Chr.16:
30570144-30570144
on Build GRCh38
|
3988417 |
c.473C>T |
p.A158V |
Chr.16:
30570274-30570274
on Build GRCh38
|
6880062 |
c.720C>T |
p.P240P |
Chr.16:
30569985-30569985
on Build GRCh38
|
4744727 |
c.345G>A |
p.K115K |
Chr.16:
30570360-30570360
on Build GRCh38
|
6196887 |
c.311-9G>C |
p.? |
Chr.16:
30570445-30570445
on Build GRCh38
|
1519004 |
c.299C>T |
p.P100L |
Chr.16:
30570406-30570406
on Build GRCh38
|
4545731 |
c.384G>A |
p.V128V |
Chr.16:
30570363-30570363
on Build GRCh38
|
6452991 |
c.557C>T |
p.T186M |
Chr.16:
30570190-30570190
on Build GRCh38
|
3112438 |
c.673G>T |
p.G225W |
Chr.16:
30570032-30570032
on Build GRCh38
|
4744718 |
c.656G>A |
p.R219H |
Chr.16:
30570091-30570091
on Build GRCh38
|
1377420 |
c.387G>T |
p.K129N |
Chr.16:
30570360-30570360
on Build GRCh38
|
4744726 |
c.387G>A |
p.K129K |
Chr.16:
30570360-30570360
on Build GRCh38
|
5479100 |
c.725G>A |
p.R242Q |
Chr.16:
30569980-30569980
on Build GRCh38
|
252943 |
c.728G>A |
p.R243Q |
Chr.16:
30570019-30570019
on Build GRCh38
|
5564933 |
c.566G>A |
p.R189H |
Chr.16:
30570139-30570139
on Build GRCh38
|
969876 |
c.626G>A |
p.R209Q |
Chr.16:
30570121-30570121
on Build GRCh38
|
3729644 |
c.721G>A |
p.V241I |
Chr.16:
30569984-30569984
on Build GRCh38
|
3112445 |
c.434G>A |
p.S145N |
Chr.16:
30570313-30570313
on Build GRCh38
|
5493420 |
c.721C>T |
p.R241W |
Chr.16:
30570026-30570026
on Build GRCh38
|
5740618 |
c.675_676insG |
p.R226fs*19 |
Chr.16:
30570029-30570030
on Build GRCh38
|
3969534 |
c.511T>A |
p.C171S |
Chr.16:
30570194-30570194
on Build GRCh38
|
3508846 |
c.478G>C |
p.D160H |
Chr.16:
30570269-30570269
on Build GRCh38
|
6032115 |
c.701G>T |
p.R234L |
Chr.16:
30570004-30570004
on Build GRCh38
|
4545732 |
c.342G>A |
p.V114V |
Chr.16:
30570363-30570363
on Build GRCh38
|
4744717 |
c.740C>T |
p.P247L |
Chr.16:
30569965-30569965
on Build GRCh38
|
1152975 |
c.461C>T |
p.P154L |
Chr.16:
30570244-30570244
on Build GRCh38
|
4744721 |
c.580delG |
p.E194fs*>69 |
Chr.16:
30570125-30570125
on Build GRCh38
|
4060153 |
c.403C>T |
p.L135L |
Chr.16:
30570344-30570344
on Build GRCh38
|
6002000 |
c.482C>T |
p.P161L |
Chr.16:
30570265-30570265
on Build GRCh38
|
6832453 |
c.754C>T |
p.R252W |
Chr.16:
30569951-30569951
on Build GRCh38
|
1377419 |
c.522C>T |
p.C174C |
Chr.16:
30570183-30570183
on Build GRCh38
|
4546332 |
c.397G>C |
p.E133Q |
Chr.16:
30570350-30570350
on Build GRCh38
|
6988379 |
c.458C>A |
p.P153H |
Chr.16:
30570247-30570247
on Build GRCh38
|
1588401 |
c.630C>T |
p.F210F |
Chr.16:
30570075-30570075
on Build GRCh38
|
4744720 |
c.622delG |
p.E208fs*>69 |
Chr.16:
30570125-30570125
on Build GRCh38
|
1377414 |
c.711C>T |
p.S237S |
Chr.16:
30570036-30570036
on Build GRCh38
|
5493421 |
c.679C>T |
p.R227W |
Chr.16:
30570026-30570026
on Build GRCh38
|
3112440 |
c.644A>G |
p.H215R |
Chr.16:
30570061-30570061
on Build GRCh38
|
6522761 |
c.626G>T |
p.R209L |
Chr.16:
30570121-30570121
on Build GRCh38
|
5565247 |
c.733C>T |
p.R245W |
Chr.16:
30569972-30569972
on Build GRCh38
|
3402271 |
c.662C>T |
p.S221F |
Chr.16:
30570043-30570043
on Build GRCh38
|
6880061 |
c.762C>T |
p.P254P |
Chr.16:
30569985-30569985
on Build GRCh38
|
3112433 |
c.752C>A |
p.P251H |
Chr.16:
30569995-30569995
on Build GRCh38
|
5776802 |
c.439C>T |
p.P147S |
Chr.16:
30570266-30570266
on Build GRCh38
|
3794798 |
c.420C>G |
p.P140P |
Chr.16:
30570285-30570285
on Build GRCh38
|
969877 |
c.503C>T |
p.P168L |
Chr.16:
30570244-30570244
on Build GRCh38
|
3112451 |
c.346G>T |
p.E116* |
Chr.16:
30570401-30570401
on Build GRCh38
|
6049387 |
c.341T>G |
p.V114G |
Chr.16:
30570364-30570364
on Build GRCh38
|
3988418 |
c.431C>T |
p.A144V |
Chr.16:
30570274-30570274
on Build GRCh38
|
5740617 |
c.717_718insG |
p.R240fs*19 |
Chr.16:
30570029-30570030
on Build GRCh38
|
3672228 |
c.714G>T |
p.G238G |
Chr.16:
30570033-30570033
on Build GRCh38
|
6196888 |
c.269-9G>C |
p.? |
Chr.16:
30570445-30570445
on Build GRCh38
|
4546333 |
c.355G>C |
p.E119Q |
Chr.16:
30570350-30570350
on Build GRCh38
|
5964789 |
c.365G>A |
p.G122E |
Chr.16:
30570382-30570382
on Build GRCh38
|
1152976 |
c.299C>A |
p.P100Q |
Chr.16:
30570406-30570406
on Build GRCh38
|
3794797 |
c.462C>G |
p.P154P |
Chr.16:
30570285-30570285
on Build GRCh38
|
3817795 |
c.323A>G |
p.N108S |
Chr.16:
30570424-30570424
on Build GRCh38
|
6832455 |
c.712C>T |
p.R238W |
Chr.16:
30569993-30569993
on Build GRCh38
|
4744723 |
c.508G>A |
p.V170M |
Chr.16:
30570197-30570197
on Build GRCh38
|
6032114 |
c.743G>T |
p.R248L |
Chr.16:
30570004-30570004
on Build GRCh38
|
1377421 |
c.345G>T |
p.K115N |
Chr.16:
30570360-30570360
on Build GRCh38
|
435109 |
c.767G>C |
p.R256P |
Chr.16:
30569980-30569980
on Build GRCh38
|
4855310 |
c.618C>T |
p.F206F |
Chr.16:
30570087-30570087
on Build GRCh38
|
1724714 |
c.740_741insC |
p.P248fs*>16 |
Chr.16:
30569964-30569965
on Build GRCh38
|
4615571 |
c.311_313delGAG |
p.G104delG |
Chr.16:
30570434-30570436
on Build GRCh38
|
1377416 |
c.603C>T |
p.H201H |
Chr.16:
30570144-30570144
on Build GRCh38
|
5363749 |
c.686G>A |
p.R229Q |
Chr.16:
30570019-30570019
on Build GRCh38
|
6398874 |
c.781C>T |
p.P261S |
Chr.16:
30569966-30569966
on Build GRCh38
|
3112446 |
c.392G>A |
p.S131N |
Chr.16:
30570313-30570313
on Build GRCh38
|
1519003 |
c.341C>T |
p.P114L |
Chr.16:
30570406-30570406
on Build GRCh38
|
4744722 |
c.550G>A |
p.V184M |
Chr.16:
30570197-30570197
on Build GRCh38
|
6832452 |
c.796C>T |
p.R266W |
Chr.16:
30569951-30569951
on Build GRCh38
|
3508847 |
c.436G>C |
p.D146H |
Chr.16:
30570269-30570269
on Build GRCh38
|
3112437 |
c.715G>T |
p.G239W |
Chr.16:
30570032-30570032
on Build GRCh38
|
6988378 |
c.500C>A |
p.P167H |
Chr.16:
30570247-30570247
on Build GRCh38
|
3794800 |
c.276C>A |
p.V92V |
Chr.16:
30570429-30570429
on Build GRCh38
|
5384739 |
c.502_503CC>GT |
p.P168V |
Chr.16:
30570244-30570245
on Build GRCh38
|
5964790 |
c.323G>A |
p.G108E |
Chr.16:
30570382-30570382
on Build GRCh38
|
969878 |
c.341C>A |
p.P114Q |
Chr.16:
30570406-30570406
on Build GRCh38
|
4060154 |
c.361C>T |
p.L121L |
Chr.16:
30570344-30570344
on Build GRCh38
|
5564932 |
c.608G>A |
p.R203H |
Chr.16:
30570139-30570139
on Build GRCh38
|
6049389 |
c.340G>A |
p.V114M |
Chr.16:
30570365-30570365
on Build GRCh38
|
4615572 |
c.269_271delGAG |
p.G90delG |
Chr.16:
30570434-30570436
on Build GRCh38
|
3794799 |
c.318C>A |
p.V106V |
Chr.16:
30570429-30570429
on Build GRCh38
|