4577437 |
c.81G>A |
p.E27E |
Chr.1:
52911624-52911624
on Build GRCh38
|
4680078 |
c.215G>A |
p.R72Q |
Chr.1:
52911628-52911628
on Build GRCh38
|
6651344 |
c.151_153delTCT |
p.S51delS |
Chr.1:
52911759-52911761
on Build GRCh38
|
4680074 |
c.102G>T |
p.L34L |
Chr.1:
52911603-52911603
on Build GRCh38
|
4341004 |
c.126C>T |
p.G42G |
Chr.1:
52911579-52911579
on Build GRCh38
|
6314215 |
c.223C>A |
p.R75R |
Chr.1:
52911620-52911620
on Build GRCh38
|
4680073 |
c.240G>T |
p.L80L |
Chr.1:
52911603-52911603
on Build GRCh38
|
4880521 |
c.122-7C>T |
p.? |
Chr.1:
52911797-52911797
on Build GRCh38
|
4880522 |
c.122-7C>T |
p.? |
Chr.1:
52911797-52911797
on Build GRCh38
|
4864034 |
c.76C>T |
p.R26W |
Chr.1:
52911629-52911629
on Build GRCh38
|
2193161 |
c.264C>T |
p.G88G |
Chr.1:
52911579-52911579
on Build GRCh38
|
4680076 |
c.94C>T |
p.R32C |
Chr.1:
52911611-52911611
on Build GRCh38
|
4837970 |
c.129T>C |
p.T43T |
Chr.1:
52911783-52911783
on Build GRCh38
|
4680079 |
c.77G>A |
p.R26Q |
Chr.1:
52911628-52911628
on Build GRCh38
|
2193160 |
c.264C>T |
p.G88G |
Chr.1:
52911579-52911579
on Build GRCh38
|
4837971 |
c.129T>C |
p.T43T |
Chr.1:
52911783-52911783
on Build GRCh38
|
6651343 |
c.151_153delTCT |
p.S51delS |
Chr.1:
52911759-52911761
on Build GRCh38
|
1584622 |
c.180C>T |
p.F60F |
Chr.1:
52911732-52911732
on Build GRCh38
|
1584623 |
c.214C>T |
p.R72W |
Chr.1:
52911629-52911629
on Build GRCh38
|
1204892 |
c.232C>T |
p.R78C |
Chr.1:
52911611-52911611
on Build GRCh38
|
4577435 |
c.219G>A |
p.E73E |
Chr.1:
52911624-52911624
on Build GRCh38
|
4680077 |
c.215G>A |
p.R72Q |
Chr.1:
52911628-52911628
on Build GRCh38
|
4577436 |
c.219G>A |
p.E73E |
Chr.1:
52911624-52911624
on Build GRCh38
|
4680072 |
c.240G>T |
p.L80L |
Chr.1:
52911603-52911603
on Build GRCh38
|
4680075 |
c.232C>T |
p.R78C |
Chr.1:
52911611-52911611
on Build GRCh38
|
6314216 |
c.223C>A |
p.R75R |
Chr.1:
52911620-52911620
on Build GRCh38
|
5624078 |
c.224G>C |
p.R75P |
Chr.1:
52911619-52911619
on Build GRCh38
|
5624077 |
c.224G>C |
p.R75P |
Chr.1:
52911619-52911619
on Build GRCh38
|
6314217 |
c.85C>A |
p.R29R |
Chr.1:
52911620-52911620
on Build GRCh38
|
3719856 |
c.277+3A>G |
p.? |
Chr.1:
52911563-52911563
on Build GRCh38
|
7306168 |
c.157C>T |
p.R53C |
Chr.1:
52911755-52911755
on Build GRCh38
|
6651345 |
c.13_15delTCT |
p.S5delS |
Chr.1:
52911759-52911761
on Build GRCh38
|
5668401 |
c.171delG |
p.N58fs*29 |
Chr.1:
52911741-52911741
on Build GRCh38
|
7306169 |
c.157C>T |
p.R53C |
Chr.1:
52911755-52911755
on Build GRCh38
|
910726 |
c.214C>T |
p.R72W |
Chr.1:
52911629-52911629
on Build GRCh38
|
7306170 |
c.19C>T |
p.R7C |
Chr.1:
52911755-52911755
on Build GRCh38
|
910727 |
c.180C>T |
p.F60F |
Chr.1:
52911732-52911732
on Build GRCh38
|
5668400 |
c.171delG |
p.N58fs*29 |
Chr.1:
52911741-52911741
on Build GRCh38
|
4880540 |
c.122-8C>G |
p.? |
Chr.1:
52911798-52911798
on Build GRCh38
|
4880539 |
c.122-8C>G |
p.? |
Chr.1:
52911798-52911798
on Build GRCh38
|
4865938 |
c.42C>T |
p.F14F |
Chr.1:
52911732-52911732
on Build GRCh38
|
266439 |
c.158G>A |
p.R53H |
Chr.1:
52911754-52911754
on Build GRCh38
|
5668402 |
c.33delG |
p.N12fs*29 |
Chr.1:
52911741-52911741
on Build GRCh38
|
3719855 |
c.277+3A>G |
p.? |
Chr.1:
52911563-52911563
on Build GRCh38
|
5624079 |
c.86G>C |
p.R29P |
Chr.1:
52911619-52911619
on Build GRCh38
|