906877 |
c.498A>C |
p.S166S |
Chr.1:
24369772-24369772
on Build GRCh38
|
3486516 |
c.644C>T |
p.T215I |
Chr.1:
24369767-24369767
on Build GRCh38
|
5661361 |
c.372G>C |
p.L124L |
Chr.1:
24369748-24369748
on Build GRCh38
|
5661360 |
c.522G>C |
p.L174L |
Chr.1:
24369748-24369748
on Build GRCh38
|
5846086 |
c.442_443delTT |
p.F148fs*>21 |
Chr.1:
24369677-24369678
on Build GRCh38
|
5846085 |
c.592_593delTT |
p.F198fs*28 |
Chr.1:
24369677-24369678
on Build GRCh38
|
1198439 |
c.613A>G |
p.N205D |
Chr.1:
24369798-24369798
on Build GRCh38
|
3865030 |
c.600G>A |
p.V200V |
Chr.1:
24369811-24369811
on Build GRCh38
|
3377087 |
c.524C>T |
p.T175M |
Chr.1:
24369746-24369746
on Build GRCh38
|
6792310 |
c.418A>G |
p.T140A |
Chr.1:
24369702-24369702
on Build GRCh38
|
4501688 |
c.595C>T |
p.L199F |
Chr.1:
24369816-24369816
on Build GRCh38
|
6792308 |
c.709A>G |
p.T237A |
Chr.1:
24369702-24369702
on Build GRCh38
|
3419016 |
c.448G>A |
p.E150K |
Chr.1:
24369822-24369822
on Build GRCh38
|
3486517 |
c.503C>T |
p.T168I |
Chr.1:
24369767-24369767
on Build GRCh38
|
3377088 |
c.374C>T |
p.T125M |
Chr.1:
24369746-24369746
on Build GRCh38
|
7166425 |
c.375G>T |
p.T125T |
Chr.1:
24369745-24369745
on Build GRCh38
|
6792309 |
c.568A>G |
p.T190A |
Chr.1:
24369702-24369702
on Build GRCh38
|
7298771 |
c.678G>A |
p.P226P |
Chr.1:
24369733-24369733
on Build GRCh38
|
7298773 |
c.387G>A |
p.P129P |
Chr.1:
24369733-24369733
on Build GRCh38
|
1584336 |
c.639A>C |
p.S213S |
Chr.1:
24369772-24369772
on Build GRCh38
|
3865031 |
c.459G>A |
p.V153V |
Chr.1:
24369811-24369811
on Build GRCh38
|
7422757 |
c.304C>A |
p.L102I |
Chr.1:
24369816-24369816
on Build GRCh38
|
3419017 |
c.298G>A |
p.E100K |
Chr.1:
24369822-24369822
on Build GRCh38
|
7166423 |
c.666G>T |
p.T222T |
Chr.1:
24369745-24369745
on Build GRCh38
|
3486518 |
c.353C>T |
p.T118I |
Chr.1:
24369767-24369767
on Build GRCh38
|
3865032 |
c.309G>A |
p.V103V |
Chr.1:
24369811-24369811
on Build GRCh38
|
7422755 |
c.595C>A |
p.L199I |
Chr.1:
24369816-24369816
on Build GRCh38
|
4501689 |
c.454C>T |
p.L152F |
Chr.1:
24369816-24369816
on Build GRCh38
|
4501690 |
c.304C>T |
p.L102F |
Chr.1:
24369816-24369816
on Build GRCh38
|
7166424 |
c.525G>T |
p.T175T |
Chr.1:
24369745-24369745
on Build GRCh38
|
1198440 |
c.472A>G |
p.N158D |
Chr.1:
24369798-24369798
on Build GRCh38
|
7298772 |
c.537G>A |
p.P179P |
Chr.1:
24369733-24369733
on Build GRCh38
|
4867525 |
c.348A>C |
p.S116S |
Chr.1:
24369772-24369772
on Build GRCh38
|
3377086 |
c.665C>T |
p.T222M |
Chr.1:
24369746-24369746
on Build GRCh38
|
5661359 |
c.663G>C |
p.L221L |
Chr.1:
24369748-24369748
on Build GRCh38
|
3419015 |
c.589G>A |
p.E197K |
Chr.1:
24369822-24369822
on Build GRCh38
|
7422756 |
c.454C>A |
p.L152I |
Chr.1:
24369816-24369816
on Build GRCh38
|
5846084 |
c.733_734delTT |
p.F245fs*28 |
Chr.1:
24369677-24369678
on Build GRCh38
|