3909797 |
c.822G>A |
p.R274R |
Chr.2:
230046304-230046304
on Build GRCh38
|
3578838 |
c.1006C>T |
p.H336Y |
Chr.2:
230046120-230046120
on Build GRCh38
|
1017571 |
c.841C>T |
p.R281W |
Chr.2:
230046285-230046285
on Build GRCh38
|
5993785 |
c.1053C>T |
p.D351D |
Chr.2:
230046073-230046073
on Build GRCh38
|
1017569 |
c.905C>T |
p.S302L |
Chr.2:
230046221-230046221
on Build GRCh38
|
4792456 |
c.802C>T |
p.P268S |
Chr.2:
230046324-230046324
on Build GRCh38
|
3578836 |
c.1059C>T |
p.F353F |
Chr.2:
230046067-230046067
on Build GRCh38
|
7390148 |
c.877G>A |
p.V293I |
Chr.2:
230046249-230046249
on Build GRCh38
|
3578842 |
c.891C>T |
p.F297F |
Chr.2:
230046235-230046235
on Build GRCh38
|
4962122 |
c.630G>A |
p.R210R |
Chr.2:
230046496-230046496
on Build GRCh38
|
1017575 |
c.591C>T |
p.A197A |
Chr.2:
230046535-230046535
on Build GRCh38
|
3938975 |
c.857T>G |
p.V286G |
Chr.2:
230046269-230046269
on Build GRCh38
|
3578840 |
c.907G>T |
p.G303C |
Chr.2:
230046219-230046219
on Build GRCh38
|
4930740 |
c.653C>A |
p.P218Q |
Chr.2:
230046473-230046473
on Build GRCh38
|
1017573 |
c.813C>T |
p.A271A |
Chr.2:
230046313-230046313
on Build GRCh38
|
6902099 |
c.798G>A |
p.E266E |
Chr.2:
230046328-230046328
on Build GRCh38
|
5725666 |
c.1050C>T |
p.N350N |
Chr.2:
230046076-230046076
on Build GRCh38
|
3838795 |
c.759C>T |
p.L253L |
Chr.2:
230046367-230046367
on Build GRCh38
|
169052 |
c.940C>T |
p.R314* |
Chr.2:
230046186-230046186
on Build GRCh38
|
3798726 |
c.808C>G |
p.Q270E |
Chr.2:
230046318-230046318
on Build GRCh38
|
1265705 |
c.800G>T |
p.C267F |
Chr.2:
230046326-230046326
on Build GRCh38
|
4092231 |
c.1007A>G |
p.H336R |
Chr.2:
230046119-230046119
on Build GRCh38
|
5547812 |
c.612_615delTTGT |
p.C205fs*4 |
Chr.2:
230046511-230046514
on Build GRCh38
|
3364628 |
c.685C>G |
p.L229V |
Chr.2:
230046441-230046441
on Build GRCh38
|
1406085 |
c.679C>T |
p.R227C |
Chr.2:
230046447-230046447
on Build GRCh38
|
5396445 |
c.1057T>G |
p.F353V |
Chr.2:
230046069-230046069
on Build GRCh38
|
3578846 |
c.654A>G |
p.P218P |
Chr.2:
230046472-230046472
on Build GRCh38
|
3578844 |
c.805G>A |
p.D269N |
Chr.2:
230046321-230046321
on Build GRCh38
|
81712 |
c.621G>T |
p.A207A |
Chr.2:
230046505-230046505
on Build GRCh38
|
4092229 |
c.1054G>A |
p.V352I |
Chr.2:
230046072-230046072
on Build GRCh38
|
3048196 |
c.658G>A |
p.D220N |
Chr.2:
230046468-230046468
on Build GRCh38
|
1225950 |
c.592G>A |
p.V198I |
Chr.2:
230046534-230046534
on Build GRCh38
|
3048179 |
c.1051G>A |
p.D351N |
Chr.2:
230046075-230046075
on Build GRCh38
|
3578848 |
c.624C>T |
p.L208L |
Chr.2:
230046502-230046502
on Build GRCh38
|
3578839 |
c.941G>A |
p.R314Q |
Chr.2:
230046185-230046185
on Build GRCh38
|
7265963 |
c.856G>A |
p.V286I |
Chr.2:
230046270-230046270
on Build GRCh38
|
1017572 |
c.825G>T |
p.K275N |
Chr.2:
230046301-230046301
on Build GRCh38
|
1017570 |
c.847C>A |
p.L283M |
Chr.2:
230046279-230046279
on Build GRCh38
|
3578837 |
c.1041G>A |
p.S347S |
Chr.2:
230046085-230046085
on Build GRCh38
|
1692136 |
c.748G>A |
p.D250N |
Chr.2:
230046378-230046378
on Build GRCh38
|
3838796 |
c.731G>A |
p.G244E |
Chr.2:
230046395-230046395
on Build GRCh38
|
3578843 |
c.885G>A |
p.K295K |
Chr.2:
230046241-230046241
on Build GRCh38
|
3578841 |
c.892G>A |
p.E298K |
Chr.2:
230046234-230046234
on Build GRCh38
|
7390147 |
c.676G>C |
p.V226L |
Chr.2:
230046450-230046450
on Build GRCh38
|
1017574 |
c.605T>C |
p.L202P |
Chr.2:
230046521-230046521
on Build GRCh38
|
1720438 |
c.698C>T |
p.S233F |
Chr.2:
230046428-230046428
on Build GRCh38
|
6052418 |
c.804C>T |
p.P268P |
Chr.2:
230046322-230046322
on Build GRCh38
|
1482845 |
c.1067C>T |
p.T356M |
Chr.2:
230046059-230046059
on Build GRCh38
|
3743637 |
c.1012C>A |
p.P338T |
Chr.2:
230046114-230046114
on Build GRCh38
|
5779636 |
c.755G>A |
p.G252E |
Chr.2:
230046371-230046371
on Build GRCh38
|
4514776 |
c.987C>T |
p.S329S |
Chr.2:
230046139-230046139
on Build GRCh38
|
3709465 |
c.1051G>T |
p.D351Y |
Chr.2:
230046075-230046075
on Build GRCh38
|
1017568 |
c.967G>A |
p.A323T |
Chr.2:
230046159-230046159
on Build GRCh38
|
7198355 |
c.852G>T |
p.K284N |
Chr.2:
230046274-230046274
on Build GRCh38
|
3838794 |
c.1002C>T |
p.F334F |
Chr.2:
230046124-230046124
on Build GRCh38
|
377596 |
c.860G>T |
p.S287I |
Chr.2:
230046266-230046266
on Build GRCh38
|
1683903 |
c.738_742delAGAAG |
p.E248fs*96 |
Chr.2:
230046384-230046388
on Build GRCh38
|
5577049 |
c.1060C>T |
p.P354S |
Chr.2:
230046066-230046066
on Build GRCh38
|
1306520 |
c.737C>G |
p.T246R |
Chr.2:
230046389-230046389
on Build GRCh38
|
1265704 |
c.1021G>A |
p.V341I |
Chr.2:
230046105-230046105
on Build GRCh38
|
4092230 |
c.1043A>G |
p.E348G |
Chr.2:
230046083-230046083
on Build GRCh38
|
6779792 |
c.620C>T |
p.A207V |
Chr.2:
230046506-230046506
on Build GRCh38
|
5649751 |
c.883A>T |
p.K295* |
Chr.2:
230046243-230046243
on Build GRCh38
|
36712 |
c.739G>A |
p.E247K |
Chr.2:
230046387-230046387
on Build GRCh38
|
1406084 |
c.680G>A |
p.R227H |
Chr.2:
230046446-230046446
on Build GRCh38
|
6779796 |
c.747G>T |
p.K249N |
Chr.2:
230046379-230046379
on Build GRCh38
|
1162449 |
c.1040C>T |
p.S347L |
Chr.2:
230046086-230046086
on Build GRCh38
|
3578847 |
c.643G>A |
p.G215S |
Chr.2:
230046483-230046483
on Build GRCh38
|
295191 |
c.621G>A |
p.A207A |
Chr.2:
230046505-230046505
on Build GRCh38
|
82355 |
c.816G>A |
p.G272G |
Chr.2:
230046310-230046310
on Build GRCh38
|
3578845 |
c.747G>A |
p.K249K |
Chr.2:
230046379-230046379
on Build GRCh38
|
6311669 |
c.928C>A |
p.L310I |
Chr.2:
230046198-230046198
on Build GRCh38
|
226053 |
c.920C>T |
p.T307I |
Chr.2:
230046206-230046206
on Build GRCh38
|
4092228 |
c.1073T>G |
p.I358S |
Chr.2:
230046053-230046053
on Build GRCh38
|
6544027 |
c.662C>A |
p.P221Q |
Chr.2:
230046464-230046464
on Build GRCh38
|
3048181 |
c.1020C>T |
p.I340I |
Chr.2:
230046106-230046106
on Build GRCh38
|
3578849 |
c.583C>T |
p.Q195* |
Chr.2:
230046543-230046543
on Build GRCh38
|
6482192 |
c.721G>C |
p.G241R |
Chr.2:
230046405-230046405
on Build GRCh38
|
297331 |
c.657C>T |
p.N219N |
Chr.2:
230046469-230046469
on Build GRCh38
|