5950165 |
c.183T>C |
p.Y61Y |
Chr.21:
30613722-30613722
on Build GRCh38
|
3405347 |
c.5G>A |
p.C2Y |
Chr.21:
30613900-30613900
on Build GRCh38
|
579010 |
c.147T>C |
p.Y49Y |
Chr.21:
30613758-30613758
on Build GRCh38
|
3405345 |
c.204C>A |
p.G68G |
Chr.21:
30613701-30613701
on Build GRCh38
|
6467872 |
c.131G>T |
p.R44I |
Chr.21:
30613774-30613774
on Build GRCh38
|
3550188 |
c.158C>T |
p.S53F |
Chr.21:
30613747-30613747
on Build GRCh38
|
6018036 |
c.200C>T |
p.S67F |
Chr.21:
30613705-30613705
on Build GRCh38
|
3550186 |
c.185G>A |
p.G62E |
Chr.21:
30613720-30613720
on Build GRCh38
|
5057548 |
c.104G>A |
p.G35D |
Chr.21:
30613801-30613801
on Build GRCh38
|
1327438 |
c.36C>A |
p.T12T |
Chr.21:
30613869-30613869
on Build GRCh38
|
4697053 |
c.135G>T |
p.L45L |
Chr.21:
30613770-30613770
on Build GRCh38
|
1029923 |
c.65G>A |
p.G22D |
Chr.21:
30613840-30613840
on Build GRCh38
|
5691418 |
c.47G>A |
p.G16E |
Chr.21:
30613858-30613858
on Build GRCh38
|
2842369 |
c.162C>T |
p.R54R |
Chr.21:
30613743-30613743
on Build GRCh38
|
5507231 |
c.147T>A |
p.Y49* |
Chr.21:
30613758-30613758
on Build GRCh38
|
1681919 |
c.155G>T |
p.G52V |
Chr.21:
30613750-30613750
on Build GRCh38
|
7374526 |
c.110G>A |
p.C37Y |
Chr.21:
30613795-30613795
on Build GRCh38
|
444353 |
c.185G>T |
p.G62V |
Chr.21:
30613720-30613720
on Build GRCh38
|
725344 |
c.151T>A |
p.Y51N |
Chr.21:
30613754-30613754
on Build GRCh38
|
4001996 |
c.127C>T |
p.R43C |
Chr.21:
30613778-30613778
on Build GRCh38
|
4648440 |
c.2T>C |
p.M1T |
Chr.21:
30613903-30613903
on Build GRCh38
|
4490858 |
c.36C>T |
p.T12T |
Chr.21:
30613869-30613869
on Build GRCh38
|
6698571 |
c.72C>T |
p.G24G |
Chr.21:
30613833-30613833
on Build GRCh38
|
3708012 |
c.8G>A |
p.G3D |
Chr.21:
30613897-30613897
on Build GRCh38
|
6526206 |
c.27C>T |
p.Y9Y |
Chr.21:
30613878-30613878
on Build GRCh38
|
362158 |
c.11G>A |
p.S4N |
Chr.21:
30613894-30613894
on Build GRCh38
|
7203386 |
c.74_94del21 |
p.Y25_G31delYGYGGLG |
Chr.21:
30613811-30613831
on Build GRCh38
|
3963904 |
c.87C>T |
p.G29G |
Chr.21:
30613818-30613818
on Build GRCh38
|
6698573 |
c.38C>A |
p.P13H |
Chr.21:
30613867-30613867
on Build GRCh38
|
3841730 |
c.81T>C |
p.Y27Y |
Chr.21:
30613824-30613824
on Build GRCh38
|
3405346 |
c.169T>A |
p.C57S |
Chr.21:
30613736-30613736
on Build GRCh38
|
5956680 |
c.128G>A |
p.R43H |
Chr.21:
30613777-30613777
on Build GRCh38
|
2842371 |
c.18C>T |
p.Y6Y |
Chr.21:
30613887-30613887
on Build GRCh38
|
5815762 |
c.86G>A |
p.G29D |
Chr.21:
30613819-30613819
on Build GRCh38
|
3550187 |
c.161G>A |
p.R54H |
Chr.21:
30613744-30613744
on Build GRCh38
|
6467873 |
c.7G>A |
p.G3S |
Chr.21:
30613898-30613898
on Build GRCh38
|
347455 |
c.104G>T |
p.G35V |
Chr.21:
30613801-30613801
on Build GRCh38
|
6160993 |
c.178G>A |
p.G60S |
Chr.21:
30613727-30613727
on Build GRCh38
|
1029924 |
c.19G>A |
p.G7R |
Chr.21:
30613886-30613886
on Build GRCh38
|
5476214 |
c.144C>T |
p.G48G |
Chr.21:
30613761-30613761
on Build GRCh38
|
1029922 |
c.117C>T |
p.G39G |
Chr.21:
30613788-30613788
on Build GRCh38
|
4697054 |
c.49T>G |
p.F17V |
Chr.21:
30613856-30613856
on Build GRCh38
|
212489 |
c.160C>T |
p.R54C |
Chr.21:
30613745-30613745
on Build GRCh38
|
5761095 |
c.35C>T |
p.T12I |
Chr.21:
30613870-30613870
on Build GRCh38
|
1413661 |
c.32G>A |
p.G11D |
Chr.21:
30613873-30613873
on Build GRCh38
|
5574721 |
c.14A>G |
p.Y5C |
Chr.21:
30613891-30613891
on Build GRCh38
|
4164816 |
c.112T>A |
p.C38S |
Chr.21:
30613793-30613793
on Build GRCh38
|
7374527 |
c.137G>T |
p.G46V |
Chr.21:
30613768-30613768
on Build GRCh38
|
3963905 |
c.70G>T |
p.G24C |
Chr.21:
30613835-30613835
on Build GRCh38
|
725345 |
c.165C>T |
p.S55S |
Chr.21:
30613740-30613740
on Build GRCh38
|
4552473 |
c.55G>A |
p.G19S |
Chr.21:
30613850-30613850
on Build GRCh38
|
444354 |
c.31G>A |
p.G11S |
Chr.21:
30613874-30613874
on Build GRCh38
|
3673173 |
c.90G>T |
p.L30L |
Chr.21:
30613815-30613815
on Build GRCh38
|
6698572 |
c.64G>T |
p.G22C |
Chr.21:
30613841-30613841
on Build GRCh38
|
3550189 |
c.107C>T |
p.S36F |
Chr.21:
30613798-30613798
on Build GRCh38
|
6533192 |
c.74A>G |
p.Y25C |
Chr.21:
30613831-30613831
on Build GRCh38
|
3939476 |
c.215G>C |
p.*72S |
Chr.21:
30613690-30613690
on Build GRCh38
|
725343 |
c.42C>A |
p.G14G |
Chr.21:
30613863-30613863
on Build GRCh38
|
370836 |
c.69G>A |
p.L23L |
Chr.21:
30613836-30613836
on Build GRCh38
|
6698574 |
c.126C>A |
p.F42L |
Chr.21:
30613779-30613779
on Build GRCh38
|