3372607 |
c.860G>T |
p.R287L |
Chr.2:
202726263-202726263
on Build GRCh38
|
5947829 |
c.228+4A>T |
p.? |
Chr.2:
202726367-202726367
on Build GRCh38
|
719733 |
c.196C>T |
p.H66Y |
Chr.2:
202726331-202726331
on Build GRCh38
|
2908070 |
c.893G>A |
p.R298Q |
Chr.2:
202726296-202726296
on Build GRCh38
|
6658144 |
c.853A>G |
p.K285E |
Chr.2:
202726256-202726256
on Build GRCh38
|
7165858 |
c.115-1G>C |
p.? |
Chr.2:
202726249-202726249
on Build GRCh38
|
5422043 |
c.153C>T |
p.H51H |
Chr.2:
202726288-202726288
on Build GRCh38
|
7192806 |
c.209C>T |
p.A70V |
Chr.2:
202726344-202726344
on Build GRCh38
|
5422042 |
c.885C>T |
p.H295H |
Chr.2:
202726288-202726288
on Build GRCh38
|
1614163 |
c.228+10delC |
p.? |
Chr.2:
202726373-202726373
on Build GRCh38
|
4777755 |
c.162_163insG |
p.H55fs*5 |
Chr.2:
202726297-202726298
on Build GRCh38
|
6658145 |
c.121A>G |
p.K41E |
Chr.2:
202726256-202726256
on Build GRCh38
|
1206034 |
c.191C>A |
p.P64Q |
Chr.2:
202726326-202726326
on Build GRCh38
|
1614162 |
c.960+10delC |
p.? |
Chr.2:
202726373-202726373
on Build GRCh38
|
1015023 |
c.143G>A |
p.R48K |
Chr.2:
202726278-202726278
on Build GRCh38
|
3576413 |
c.166C>T |
p.H56Y |
Chr.2:
202726301-202726301
on Build GRCh38
|
4682412 |
c.859C>T |
p.R287C |
Chr.2:
202726262-202726262
on Build GRCh38
|
3576415 |
c.169C>T |
p.R57* |
Chr.2:
202726304-202726304
on Build GRCh38
|
4777754 |
c.894_895insG |
p.H299fs*5 |
Chr.2:
202726297-202726298
on Build GRCh38
|
4682413 |
c.127C>T |
p.R43C |
Chr.2:
202726262-202726262
on Build GRCh38
|
3372608 |
c.128G>T |
p.R43L |
Chr.2:
202726263-202726263
on Build GRCh38
|
1206033 |
c.923C>A |
p.P308Q |
Chr.2:
202726326-202726326
on Build GRCh38
|
442130 |
c.152A>G |
p.H51R |
Chr.2:
202726287-202726287
on Build GRCh38
|
719732 |
c.928C>T |
p.H310Y |
Chr.2:
202726331-202726331
on Build GRCh38
|
3576414 |
c.901C>T |
p.R301* |
Chr.2:
202726304-202726304
on Build GRCh38
|
2908071 |
c.161G>A |
p.R54Q |
Chr.2:
202726296-202726296
on Build GRCh38
|
6156556 |
c.879T>A |
p.S293R |
Chr.2:
202726282-202726282
on Build GRCh38
|
442132 |
c.175_178delAAAG |
p.E60fs*27 |
Chr.2:
202726310-202726313
on Build GRCh38
|
6156558 |
c.859C>A |
p.R287S |
Chr.2:
202726262-202726262
on Build GRCh38
|
6156559 |
c.127C>A |
p.R43S |
Chr.2:
202726262-202726262
on Build GRCh38
|
442131 |
c.907_910delAAAG |
p.E304fs*27 |
Chr.2:
202726310-202726313
on Build GRCh38
|
5947828 |
c.960+4A>T |
p.? |
Chr.2:
202726367-202726367
on Build GRCh38
|
6156557 |
c.147T>A |
p.S49R |
Chr.2:
202726282-202726282
on Build GRCh38
|
442129 |
c.884A>G |
p.H295R |
Chr.2:
202726287-202726287
on Build GRCh38
|
7192805 |
c.941C>T |
p.A314V |
Chr.2:
202726344-202726344
on Build GRCh38
|
1015022 |
c.875G>A |
p.R292K |
Chr.2:
202726278-202726278
on Build GRCh38
|
3576412 |
c.898C>T |
p.H300Y |
Chr.2:
202726301-202726301
on Build GRCh38
|
7165857 |
c.847-1G>C |
p.? |
Chr.2:
202726249-202726249
on Build GRCh38
|