6127000 |
c.1783A>C |
p.K595Q |
Chr.1:
50475550-50475550
on Build GRCh38
|
6657952 |
c.1838A>G |
p.Y613C |
Chr.1:
50475495-50475495
on Build GRCh38
|
6127001 |
c.1057A>C |
p.K353Q |
Chr.1:
50475550-50475550
on Build GRCh38
|
6657961 |
c.1080_1081insT |
p.V361fs*10 |
Chr.1:
50475526-50475527
on Build GRCh38
|
6063745 |
c.1105G>T |
p.D369Y |
Chr.1:
50475502-50475502
on Build GRCh38
|
3360948 |
c.1782C>T |
p.N594N |
Chr.1:
50475551-50475551
on Build GRCh38
|
5827923 |
c.1079T>G |
p.F360C |
Chr.1:
50475528-50475528
on Build GRCh38
|
4166743 |
c.1869+1G>A |
p.? |
Chr.1:
50475463-50475463
on Build GRCh38
|
6657960 |
c.1806_1807insT |
p.V603fs*10 |
Chr.1:
50475526-50475527
on Build GRCh38
|
4472504 |
c.1788C>T |
p.L596L |
Chr.1:
50475545-50475545
on Build GRCh38
|
1343259 |
c.1805T>G |
p.F602C |
Chr.1:
50475528-50475528
on Build GRCh38
|
1687656 |
c.1825C>T |
p.P609S |
Chr.1:
50475508-50475508
on Build GRCh38
|
122949 |
c.1805T>C |
p.F602S |
Chr.1:
50475528-50475528
on Build GRCh38
|
464720 |
c.1809A>G |
p.V603V |
Chr.1:
50475524-50475524
on Build GRCh38
|
5558192 |
c.1058A>G |
p.K353R |
Chr.1:
50475549-50475549
on Build GRCh38
|
6657953 |
c.1112A>G |
p.Y371C |
Chr.1:
50475495-50475495
on Build GRCh38
|
6063744 |
c.1831G>T |
p.D611Y |
Chr.1:
50475502-50475502
on Build GRCh38
|
211876 |
c.1830G>A |
p.W610* |
Chr.1:
50475503-50475503
on Build GRCh38
|
5558191 |
c.1784A>G |
p.K595R |
Chr.1:
50475549-50475549
on Build GRCh38
|