893870 |
c.454C>T |
p.R152* |
Chr.1:
111727408-111727408
on Build GRCh38
|
1665468 |
c.522_525delACTG |
p.L175fs*31 |
Chr.1:
111727337-111727340
on Build GRCh38
|
5530905 |
c.568C>G |
p.P190A |
Chr.1:
111727294-111727294
on Build GRCh38
|
1198428 |
c.304G>A |
p.A102T |
Chr.1:
111727513-111727513
on Build GRCh38
|
2119596 |
c.559_560insG |
p.A187fs*3 |
Chr.1:
111727302-111727303
on Build GRCh38
|
4020651 |
c.602G>A |
p.R201H |
Chr.1:
111727215-111727215
on Build GRCh38
|
2119604 |
c.455G>A |
p.R152Q |
Chr.1:
111727407-111727407
on Build GRCh38
|
5578535 |
c.354C>T |
p.P118P |
Chr.1:
111727508-111727508
on Build GRCh38
|
1332727 |
c.309C>A |
p.P103P |
Chr.1:
111727508-111727508
on Build GRCh38
|
4645027 |
c.560G>A |
p.R187H |
Chr.1:
111727257-111727257
on Build GRCh38
|
5843072 |
c.210delC |
p.R71fs*46 |
Chr.1:
111727652-111727652
on Build GRCh38
|
1294729 |
c.502G>C |
p.E168Q |
Chr.1:
111727315-111727315
on Build GRCh38
|
3688881 |
c.281G>T |
p.R94M |
Chr.1:
111727536-111727536
on Build GRCh38
|
5902469 |
c.352C>T |
p.P118S |
Chr.1:
111727510-111727510
on Build GRCh38
|
6205503 |
c.273A>G |
p.P91P |
Chr.1:
111727544-111727544
on Build GRCh38
|
3471277 |
c.390G>A |
p.L130L |
Chr.1:
111727427-111727427
on Build GRCh38
|
3965705 |
c.398G>A |
p.R133Q |
Chr.1:
111727419-111727419
on Build GRCh38
|
6205502 |
c.318A>G |
p.P106P |
Chr.1:
111727544-111727544
on Build GRCh38
|
6659448 |
c.591G>T |
p.K197N |
Chr.1:
111727226-111727226
on Build GRCh38
|
3965704 |
c.443G>A |
p.R148Q |
Chr.1:
111727419-111727419
on Build GRCh38
|
6659443 |
c.194G>A |
p.G65D |
Chr.1:
111727668-111727668
on Build GRCh38
|
6659444 |
c.149G>A |
p.G50D |
Chr.1:
111727668-111727668
on Build GRCh38
|
4020650 |
c.647G>A |
p.R216H |
Chr.1:
111727215-111727215
on Build GRCh38
|
2119591 |
c.601C>T |
p.R201C |
Chr.1:
111727216-111727216
on Build GRCh38
|
6659447 |
c.636G>T |
p.K212N |
Chr.1:
111727226-111727226
on Build GRCh38
|
5578536 |
c.309C>T |
p.P103P |
Chr.1:
111727508-111727508
on Build GRCh38
|
423459 |
c.480C>T |
p.N160N |
Chr.1:
111727382-111727382
on Build GRCh38
|
4495922 |
c.463C>T |
p.L155L |
Chr.1:
111727399-111727399
on Build GRCh38
|
2119619 |
c.178G>A |
p.E60K |
Chr.1:
111727639-111727639
on Build GRCh38
|
5902470 |
c.307C>T |
p.P103S |
Chr.1:
111727510-111727510
on Build GRCh38
|
4613807 |
c.559delG |
p.A187fs*20 |
Chr.1:
111727303-111727303
on Build GRCh38
|
2119603 |
c.449T>G |
p.L150R |
Chr.1:
111727368-111727368
on Build GRCh38
|
5843073 |
c.165delC |
p.R56fs*46 |
Chr.1:
111727652-111727652
on Build GRCh38
|
4760190 |
c.403C>T |
p.R135* |
Chr.1:
111727459-111727459
on Build GRCh38
|
1472415 |
c.290G>T |
p.C97F |
Chr.1:
111727527-111727527
on Build GRCh38
|
1198427 |
c.349G>A |
p.A117T |
Chr.1:
111727513-111727513
on Build GRCh38
|
5353278 |
c.514G>C |
p.A172P |
Chr.1:
111727303-111727303
on Build GRCh38
|
1472413 |
c.436G>A |
p.V146I |
Chr.1:
111727381-111727381
on Build GRCh38
|
7367317 |
c.595G>A |
p.E199K |
Chr.1:
111727267-111727267
on Build GRCh38
|
1294728 |
c.547G>C |
p.E183Q |
Chr.1:
111727315-111727315
on Build GRCh38
|
5146734 |
c.491G>A |
p.G164E |
Chr.1:
111727326-111727326
on Build GRCh38
|
5352995 |
c.184C>T |
p.P62S |
Chr.1:
111727678-111727678
on Build GRCh38
|
1583238 |
c.267G>T |
p.K89N |
Chr.1:
111727550-111727550
on Build GRCh38
|
1332726 |
c.354C>A |
p.P118P |
Chr.1:
111727508-111727508
on Build GRCh38
|
5530906 |
c.523C>G |
p.P175A |
Chr.1:
111727294-111727294
on Build GRCh38
|
5448103 |
c.622G>A |
p.A208T |
Chr.1:
111727240-111727240
on Build GRCh38
|
1560098 |
c.518G>A |
p.R173H |
Chr.1:
111727299-111727299
on Build GRCh38
|
1560097 |
c.563G>A |
p.R188H |
Chr.1:
111727299-111727299
on Build GRCh38
|
5491173 |
c.375C>T |
p.D125D |
Chr.1:
111727442-111727442
on Build GRCh38
|
1198426 |
c.462G>C |
p.W154C |
Chr.1:
111727355-111727355
on Build GRCh38
|
893871 |
c.312G>T |
p.K104N |
Chr.1:
111727550-111727550
on Build GRCh38
|
2119590 |
c.646C>T |
p.R216C |
Chr.1:
111727216-111727216
on Build GRCh38
|
4613808 |
c.514delG |
p.A172fs*20 |
Chr.1:
111727303-111727303
on Build GRCh38
|
2119602 |
c.494T>G |
p.L165R |
Chr.1:
111727368-111727368
on Build GRCh38
|
4495923 |
c.418C>T |
p.L140L |
Chr.1:
111727399-111727399
on Build GRCh38
|
5578533 |
c.166G>A |
p.E56K |
Chr.1:
111727696-111727696
on Build GRCh38
|
1317703 |
c.142G>A |
p.V48M |
Chr.1:
111727675-111727675
on Build GRCh38
|
7367318 |
c.550G>A |
p.E184K |
Chr.1:
111727267-111727267
on Build GRCh38
|
2119618 |
c.223G>A |
p.E75K |
Chr.1:
111727639-111727639
on Build GRCh38
|
4947683 |
c.233C>G |
p.P78R |
Chr.1:
111727584-111727584
on Build GRCh38
|
7252275 |
c.567C>T |
p.F189F |
Chr.1:
111727250-111727250
on Build GRCh38
|
3471276 |
c.435G>A |
p.L145L |
Chr.1:
111727427-111727427
on Build GRCh38
|
4760191 |
c.358C>T |
p.R120* |
Chr.1:
111727459-111727459
on Build GRCh38
|
5891593 |
c.370C>T |
p.P124S |
Chr.1:
111727492-111727492
on Build GRCh38
|
3688880 |
c.326G>T |
p.R109M |
Chr.1:
111727536-111727536
on Build GRCh38
|
3801257 |
c.293G>A |
p.G98E |
Chr.1:
111727524-111727524
on Build GRCh38
|
3801256 |
c.338G>A |
p.G113E |
Chr.1:
111727524-111727524
on Build GRCh38
|
3862223 |
c.353C>T |
p.P118L |
Chr.1:
111727509-111727509
on Build GRCh38
|
6355995 |
c.442C>T |
p.R148W |
Chr.1:
111727420-111727420
on Build GRCh38
|
6355996 |
c.397C>T |
p.R133W |
Chr.1:
111727420-111727420
on Build GRCh38
|
3862224 |
c.308C>T |
p.P103L |
Chr.1:
111727509-111727509
on Build GRCh38
|
5578534 |
c.121G>A |
p.E41K |
Chr.1:
111727696-111727696
on Build GRCh38
|
423458 |
c.481G>A |
p.V161I |
Chr.1:
111727381-111727381
on Build GRCh38
|
2119597 |
c.514_515insG |
p.A172fs*3 |
Chr.1:
111727302-111727303
on Build GRCh38
|
423460 |
c.335G>T |
p.C112F |
Chr.1:
111727527-111727527
on Build GRCh38
|
1665469 |
c.477_480delACTG |
p.L160fs*31 |
Chr.1:
111727337-111727340
on Build GRCh38
|
5891594 |
c.325C>T |
p.P109S |
Chr.1:
111727492-111727492
on Build GRCh38
|
4645026 |
c.605G>A |
p.R202H |
Chr.1:
111727257-111727257
on Build GRCh38
|
2119605 |
c.410G>A |
p.R137Q |
Chr.1:
111727407-111727407
on Build GRCh38
|
1198425 |
c.507G>C |
p.W169C |
Chr.1:
111727355-111727355
on Build GRCh38
|
7252274 |
c.612C>T |
p.F204F |
Chr.1:
111727250-111727250
on Build GRCh38
|
5352996 |
c.139C>T |
p.P47S |
Chr.1:
111727678-111727678
on Build GRCh38
|
5146733 |
c.536G>A |
p.G179E |
Chr.1:
111727326-111727326
on Build GRCh38
|
1472414 |
c.435C>T |
p.N145N |
Chr.1:
111727382-111727382
on Build GRCh38
|
73912 |
c.278C>G |
p.P93R |
Chr.1:
111727584-111727584
on Build GRCh38
|
1317702 |
c.187G>A |
p.V63M |
Chr.1:
111727675-111727675
on Build GRCh38
|
5353277 |
c.559G>C |
p.A187P |
Chr.1:
111727303-111727303
on Build GRCh38
|
1583239 |
c.409C>T |
p.R137* |
Chr.1:
111727408-111727408
on Build GRCh38
|
5448104 |
c.577G>A |
p.A193T |
Chr.1:
111727240-111727240
on Build GRCh38
|
5491172 |
c.420C>T |
p.D140D |
Chr.1:
111727442-111727442
on Build GRCh38
|