| 4991234 |
c.690C>T |
p.T230T |
Chr.19:
1220673-1220673
on Build GRCh38
|
| 6532707 |
c.721G>C |
p.A241P |
Chr.19:
1220704-1220704
on Build GRCh38
|
| 564710 |
c.724G>T |
p.G242W |
Chr.19:
1220707-1220707
on Build GRCh38
|
| 6973254 |
c.719C>T |
p.S240L |
Chr.19:
1220702-1220702
on Build GRCh38
|
| 25849 |
c.724G>C |
p.G242R |
Chr.19:
1220707-1220707
on Build GRCh38
|
| 6973756 |
c.725_726GG>TT |
p.G242V |
Chr.19:
1220708-1220709
on Build GRCh38
|
| 333593 |
c.717G>T |
p.W239C |
Chr.19:
1220700-1220700
on Build GRCh38
|
| 6083767 |
c.703A>T |
p.K235* |
Chr.19:
1220686-1220686
on Build GRCh38
|
| 27023 |
c.1_*del |
p.0 |
Chr.19:
1206914-1226647
on Build GRCh38
|
| 6933604 |
c.712A>T |
p.I238F |
Chr.19:
1220695-1220695
on Build GRCh38
|
| 6984179 |
c.692_727del36 |
p.S232_V243del12 |
Chr.19:
1220675-1220710
on Build GRCh38
|
| 6961578 |
c.734+2T>G |
p.? |
Chr.19:
1220719-1220719
on Build GRCh38
|
| 6944568 |
c.724G>A |
p.G242R |
Chr.19:
1220707-1220707
on Build GRCh38
|
| 5365232 |
c.697G>A |
p.G233S |
Chr.19:
1220680-1220680
on Build GRCh38
|
| 6419313 |
c.721G>A |
p.A241T |
Chr.19:
1220704-1220704
on Build GRCh38
|
| 51523 |
c.734+1G>T |
p.? |
Chr.19:
1220718-1220718
on Build GRCh38
|
| 6920495 |
c.719C>A |
p.S240* |
Chr.19:
1220702-1220702
on Build GRCh38
|
| 6981317 |
c.709G>C |
p.D237H |
Chr.19:
1220692-1220692
on Build GRCh38
|
| 6970017 |
c.734+1G>C |
p.? |
Chr.19:
1220718-1220718
on Build GRCh38
|
| 21383 |
c.691T>C |
p.F231L |
Chr.19:
1220674-1220674
on Build GRCh38
|
| 6376612 |
c.713T>C |
p.I238T |
Chr.19:
1220696-1220696
on Build GRCh38
|
| 6939575 |
c.717G>A |
p.W239* |
Chr.19:
1220700-1220700
on Build GRCh38
|
| 6957009 |
c.509_734+44del345 |
p.? |
Chr.19:
1220417-1220761
on Build GRCh38
|
| 48788 |
c.725G>T |
p.G242V |
Chr.19:
1220708-1220708
on Build GRCh38
|
| 6941793 |
c.723_724insG |
p.V243fs*23 |
Chr.19:
1220706-1220707
on Build GRCh38
|
| 48787 |
c.709G>T |
p.D237Y |
Chr.19:
1220692-1220692
on Build GRCh38
|
| 96530 |
c.709_709delG |
p.D237fs*50 |
Chr.19:
1220692-1220692
on Build GRCh38
|
| 51203 |
c.465_862del398 |
p.? |
Chr.19:
1220373-1221340
on Build GRCh38
|
| 6925435 |
c.716G>C |
p.W239S |
Chr.19:
1220699-1220699
on Build GRCh38
|
| 6918756 |
c.690_692delCTT |
p.F231delF |
Chr.19:
1220673-1220675
on Build GRCh38
|
| 6968800 |
c.724delG |
p.V243fs*44 |
Chr.19:
1220707-1220707
on Build GRCh38
|
| 6924179 |
c.733C>A |
p.L245I |
Chr.19:
1220716-1220716
on Build GRCh38
|
| 3528689 |
c.707T>C |
p.V236A |
Chr.19:
1220690-1220690
on Build GRCh38
|
| 6916685 |
c.734+1G>A |
p.? |
Chr.19:
1220718-1220718
on Build GRCh38
|
| 2815338 |
c.709G>A |
p.D237N |
Chr.19:
1220692-1220692
on Build GRCh38
|
| 1523960 |
c.733C>T |
p.L245F |
Chr.19:
1220716-1220716
on Build GRCh38
|
| 6950342 |
c.713T>A |
p.I238N |
Chr.19:
1220696-1220696
on Build GRCh38
|