4531821 |
c.766G>T |
p.E256* |
Chr.5:
79300810-79300810
on Build GRCh38
|
5960086 |
c.730G>A |
p.E244K |
Chr.5:
79300774-79300774
on Build GRCh38
|
6394114 |
c.1822C>A |
p.Q608K |
Chr.5:
79300804-79300804
on Build GRCh38
|
5915409 |
c.1819C>T |
p.R607C |
Chr.5:
79300801-79300801
on Build GRCh38
|
4655372 |
c.1785G>T |
p.Q595H |
Chr.5:
79300767-79300767
on Build GRCh38
|
4655373 |
c.723G>T |
p.Q241H |
Chr.5:
79300767-79300767
on Build GRCh38
|
5960085 |
c.1792G>A |
p.E598K |
Chr.5:
79300774-79300774
on Build GRCh38
|
6425873 |
c.1819C>A |
p.R607S |
Chr.5:
79300801-79300801
on Build GRCh38
|
4693884 |
c.632-1_632insA |
p.R213fs*3 |
Chr.5:
79300675-79300676
on Build GRCh38
|
3856450 |
c.1718A>G |
p.Y573C |
Chr.5:
79300700-79300700
on Build GRCh38
|
4693883 |
c.1694-1_1694insA |
p.R567fs*3 |
Chr.5:
79300675-79300676
on Build GRCh38
|
6394115 |
c.760C>A |
p.Q254K |
Chr.5:
79300804-79300804
on Build GRCh38
|
4693886 |
c.714G>A |
p.A238A |
Chr.5:
79300758-79300758
on Build GRCh38
|
4693885 |
c.1776G>A |
p.A592A |
Chr.5:
79300758-79300758
on Build GRCh38
|
6425874 |
c.757C>A |
p.R253S |
Chr.5:
79300801-79300801
on Build GRCh38
|
3697321 |
c.735G>A |
p.L245L |
Chr.5:
79300779-79300779
on Build GRCh38
|
7181071 |
c.632-1G>T |
p.? |
Chr.5:
79300675-79300675
on Build GRCh38
|
7181072 |
c.1694-1G>T |
p.? |
Chr.5:
79300675-79300675
on Build GRCh38
|
7256473 |
c.632-1G>A |
p.? |
Chr.5:
79300675-79300675
on Build GRCh38
|
3697320 |
c.1797G>A |
p.L599L |
Chr.5:
79300779-79300779
on Build GRCh38
|
7256474 |
c.1694-1G>A |
p.? |
Chr.5:
79300675-79300675
on Build GRCh38
|
4531820 |
c.1828G>T |
p.E610* |
Chr.5:
79300810-79300810
on Build GRCh38
|
5915410 |
c.757C>T |
p.R253C |
Chr.5:
79300801-79300801
on Build GRCh38
|
3856451 |
c.656A>G |
p.Y219C |
Chr.5:
79300700-79300700
on Build GRCh38
|