6968247 |
c.363delC |
p.L122fs*2 |
Chr.1:
50974126-50974126
on Build GRCh38
|
6972297 |
c.355G>T |
p.V119L |
Chr.1:
50974118-50974118
on Build GRCh38
|
4589934 |
c.130_507del378 |
p.? |
Chr.1:
50973893-50974270
on Build GRCh38
|
1636672 |
c.324C>G |
p.H108Q |
Chr.1:
50974087-50974087
on Build GRCh38
|
1343268 |
c.328G>A |
p.A110T |
Chr.1:
50974091-50974091
on Build GRCh38
|
4494718 |
c.438C>T |
p.L146L |
Chr.1:
50974201-50974201
on Build GRCh38
|
7346305 |
c.377C>A |
p.T126K |
Chr.1:
50974140-50974140
on Build GRCh38
|
4671246 |
c.407_408insG |
p.D138fs*5 |
Chr.1:
50974170-50974171
on Build GRCh38
|
4445243 |
c.352_353insGG |
p.V118fs*7 |
Chr.1:
50974115-50974116
on Build GRCh38
|
6941344 |
c.418G>A |
p.A140T |
Chr.1:
50974181-50974181
on Build GRCh38
|
4165235 |
c.321G>C |
p.L107F |
Chr.1:
50974084-50974084
on Build GRCh38
|
4606546 |
c.337G>T |
p.E113* |
Chr.1:
50974100-50974100
on Build GRCh38
|
7339706 |
c.341G>C |
p.G114A |
Chr.1:
50974104-50974104
on Build GRCh38
|
6920668 |
c.350G>A |
p.R117Q |
Chr.1:
50974113-50974113
on Build GRCh38
|
4165236 |
c.425A>C |
p.D142A |
Chr.1:
50974188-50974188
on Build GRCh38
|
7340407 |
c.406A>T |
p.K136* |
Chr.1:
50974169-50974169
on Build GRCh38
|
6922110 |
c.397C>T |
p.R133W |
Chr.1:
50974160-50974160
on Build GRCh38
|
4610809 |
c.338_340delAAG |
p.E113del |
Chr.1:
50974101-50974103
on Build GRCh38
|
6926477 |
c.451G>C |
p.E151Q |
Chr.1:
50974214-50974214
on Build GRCh38
|
910515 |
c.326T>C |
p.L109S |
Chr.1:
50974089-50974089
on Build GRCh38
|
392368 |
c.341_342insC |
p.H115fs*22 |
Chr.1:
50974104-50974105
on Build GRCh38
|
7163105 |
c.308G>A |
p.G103E |
Chr.1:
50974071-50974071
on Build GRCh38
|
3966635 |
c.323A>G |
p.H108R |
Chr.1:
50974086-50974086
on Build GRCh38
|
5020094 |
c.342C>T |
p.G114G |
Chr.1:
50974105-50974105
on Build GRCh38
|
910516 |
c.438C>A |
p.L146L |
Chr.1:
50974201-50974201
on Build GRCh38
|
7259568 |
c.350delG |
p.V118fs*6 |
Chr.1:
50974113-50974113
on Build GRCh38
|
681840 |
c.295G>A |
p.E99K |
Chr.1:
50974058-50974058
on Build GRCh38
|
3737044 |
c.295_297delGAG |
p.E99del |
Chr.1:
50974058-50974060
on Build GRCh38
|
3737045 |
c.346C>T |
p.L116F |
Chr.1:
50974109-50974109
on Build GRCh38
|
6976180 |
c.295G>T |
p.E99* |
Chr.1:
50974058-50974058
on Build GRCh38
|
7447163 |
c.461G>A |
p.S154N |
Chr.1:
50974224-50974224
on Build GRCh38
|
7447169 |
c.446G>A |
p.R149K |
Chr.1:
50974209-50974209
on Build GRCh38
|
6489132 |
c.299A>G |
p.D100G |
Chr.1:
50974062-50974062
on Build GRCh38
|
6979543 |
c.337G>A |
p.E113K |
Chr.1:
50974100-50974100
on Build GRCh38
|