6540624 |
c.1607G>T |
p.R536L |
Chr.1:
92180604-92180604
on Build GRCh38
|
1602788 |
c.1606C>T |
p.R536C |
Chr.1:
92180603-92180603
on Build GRCh38
|
5760732 |
c.1521G>T |
p.Q507H |
Chr.1:
92180518-92180518
on Build GRCh38
|
6871797 |
c.2079G>A |
p.G693G |
Chr.1:
92180911-92180911
on Build GRCh38
|
5381709 |
c.1855C>T |
p.P619S |
Chr.1:
92180852-92180852
on Build GRCh38
|
5716686 |
c.1943G>A |
p.S648N |
Chr.1:
92180940-92180940
on Build GRCh38
|
6850257 |
c.2140C>T |
p.P714S |
Chr.1:
92180972-92180972
on Build GRCh38
|
2259959 |
c.1789G>T |
p.D597Y |
Chr.1:
92180786-92180786
on Build GRCh38
|
6340303 |
c.1829G>T |
p.C610F |
Chr.1:
92180826-92180826
on Build GRCh38
|
2259964 |
c.1922A>G |
p.N641S |
Chr.1:
92180919-92180919
on Build GRCh38
|
1344896 |
c.1937T>G |
p.F646C |
Chr.1:
92180934-92180934
on Build GRCh38
|
5439719 |
c.1768G>A |
p.V590M |
Chr.1:
92180600-92180600
on Build GRCh38
|
6527695 |
c.2074G>C |
p.V692L |
Chr.1:
92180906-92180906
on Build GRCh38
|
2259951 |
c.1667T>C |
p.L556P |
Chr.1:
92180664-92180664
on Build GRCh38
|
7310905 |
c.2083G>A |
p.D695N |
Chr.1:
92180915-92180915
on Build GRCh38
|
5381710 |
c.2020C>T |
p.P674S |
Chr.1:
92180852-92180852
on Build GRCh38
|
4242770 |
c.2087A>G |
p.N696S |
Chr.1:
92180919-92180919
on Build GRCh38
|
2259955 |
c.1738G>T |
p.D580Y |
Chr.1:
92180735-92180735
on Build GRCh38
|
7373558 |
c.1882G>A |
p.D628N |
Chr.1:
92180714-92180714
on Build GRCh38
|
4960332 |
c.2032G>A |
p.G678R |
Chr.1:
92181029-92181029
on Build GRCh38
|
4775346 |
c.2081delG |
p.S694fs*4 |
Chr.1:
92180913-92180913
on Build GRCh38
|
4767983 |
c.1738G>A |
p.D580N |
Chr.1:
92180735-92180735
on Build GRCh38
|
5693275 |
c.2142A>G |
p.P714P |
Chr.1:
92180974-92180974
on Build GRCh38
|
4242759 |
c.1903G>T |
p.D635Y |
Chr.1:
92180735-92180735
on Build GRCh38
|
4242763 |
c.1954G>T |
p.D652Y |
Chr.1:
92180786-92180786
on Build GRCh38
|
5496982 |
c.1965G>A |
p.M655I |
Chr.1:
92180962-92180962
on Build GRCh38
|
4242755 |
c.1832T>C |
p.L611P |
Chr.1:
92180664-92180664
on Build GRCh38
|
1725799 |
c.1898G>C |
p.C633S |
Chr.1:
92180895-92180895
on Build GRCh38
|
5798284 |
c.2014T>G |
p.L672V |
Chr.1:
92181011-92181011
on Build GRCh38
|
6850256 |
c.1975C>T |
p.P659S |
Chr.1:
92180972-92180972
on Build GRCh38
|
6871796 |
c.1914G>A |
p.G638G |
Chr.1:
92180911-92180911
on Build GRCh38
|
6527694 |
c.1909G>C |
p.V637L |
Chr.1:
92180906-92180906
on Build GRCh38
|
913274 |
c.1692A>G |
p.E564E |
Chr.1:
92180689-92180689
on Build GRCh38
|
255953 |
c.1916delG |
p.S639fs*4 |
Chr.1:
92180913-92180913
on Build GRCh38
|
7373557 |
c.1717G>A |
p.D573N |
Chr.1:
92180714-92180714
on Build GRCh38
|
5496983 |
c.2130G>A |
p.M710I |
Chr.1:
92180962-92180962
on Build GRCh38
|
2259965 |
c.1951G>A |
p.A651T |
Chr.1:
92180948-92180948
on Build GRCh38
|
5798285 |
c.2179T>G |
p.L727V |
Chr.1:
92181011-92181011
on Build GRCh38
|
5693274 |
c.1977A>G |
p.P659P |
Chr.1:
92180974-92180974
on Build GRCh38
|
4452316 |
c.1938A>G |
p.Q646Q |
Chr.1:
92180770-92180770
on Build GRCh38
|
4960333 |
c.2197G>A |
p.G733R |
Chr.1:
92181029-92181029
on Build GRCh38
|
4452315 |
c.1773A>G |
p.Q591Q |
Chr.1:
92180770-92180770
on Build GRCh38
|
5760733 |
c.1686G>T |
p.Q562H |
Chr.1:
92180518-92180518
on Build GRCh38
|
2259956 |
c.1744G>C |
p.E582Q |
Chr.1:
92180741-92180741
on Build GRCh38
|
6540625 |
c.1772G>T |
p.R591L |
Chr.1:
92180604-92180604
on Build GRCh38
|
7310904 |
c.1918G>A |
p.D640N |
Chr.1:
92180915-92180915
on Build GRCh38
|
2259963 |
c.1881C>T |
p.C627C |
Chr.1:
92180878-92180878
on Build GRCh38
|
4242771 |
c.2116G>A |
p.A706T |
Chr.1:
92180948-92180948
on Build GRCh38
|
7308996 |
c.2063G>C |
p.C688S |
Chr.1:
92180895-92180895
on Build GRCh38
|
3419574 |
c.2102T>G |
p.F701C |
Chr.1:
92180934-92180934
on Build GRCh38
|
5716687 |
c.2108G>A |
p.S703N |
Chr.1:
92180940-92180940
on Build GRCh38
|
4767984 |
c.1903G>A |
p.D635N |
Chr.1:
92180735-92180735
on Build GRCh38
|
2259952 |
c.1701G>A |
p.Q567Q |
Chr.1:
92180698-92180698
on Build GRCh38
|
4242760 |
c.1909G>C |
p.E637Q |
Chr.1:
92180741-92180741
on Build GRCh38
|
6340304 |
c.1994G>T |
p.C665F |
Chr.1:
92180826-92180826
on Build GRCh38
|
4242767 |
c.2046C>T |
p.C682C |
Chr.1:
92180878-92180878
on Build GRCh38
|
4242753 |
c.1771C>T |
p.R591C |
Chr.1:
92180603-92180603
on Build GRCh38
|
1185516 |
c.1640A>T |
p.Q547L |
Chr.1:
92180637-92180637
on Build GRCh38
|
4242756 |
c.1866G>A |
p.Q622Q |
Chr.1:
92180698-92180698
on Build GRCh38
|
5439718 |
c.1603G>A |
p.V535M |
Chr.1:
92180600-92180600
on Build GRCh38
|
913275 |
c.1867G>T |
p.E623* |
Chr.1:
92180864-92180864
on Build GRCh38
|