4009538 |
c.795-1G>A |
p.? |
Chr.1:
6645979-6645979
on Build GRCh38
|
4240821 |
c.844A>T |
p.T282S |
Chr.1:
6645839-6645839
on Build GRCh38
|
4009532 |
c.821A>G |
p.Q274R |
Chr.1:
6645952-6645952
on Build GRCh38
|
4678694 |
c.740+6G>A |
p.? |
Chr.1:
6645865-6645865
on Build GRCh38
|
4144167 |
c.877T>A |
p.F293I |
Chr.1:
6645806-6645806
on Build GRCh38
|
4240822 |
c.934A>T |
p.T312S |
Chr.1:
6645839-6645839
on Build GRCh38
|
2239898 |
c.855C>T |
p.T285T |
Chr.1:
6645918-6645918
on Build GRCh38
|
4144168 |
c.967T>A |
p.F323I |
Chr.1:
6645806-6645806
on Build GRCh38
|
4871601 |
c.679C>T |
p.R227* |
Chr.1:
6645932-6645932
on Build GRCh38
|
2239887 |
c.867A>T |
p.K289N |
Chr.1:
6645816-6645816
on Build GRCh38
|
3751368 |
c.727G>A |
p.V243M |
Chr.1:
6645884-6645884
on Build GRCh38
|
6325519 |
c.923C>A |
p.S308* |
Chr.1:
6645850-6645850
on Build GRCh38
|
6325518 |
c.833C>A |
p.S278* |
Chr.1:
6645850-6645850
on Build GRCh38
|
6647185 |
c.857G>A |
p.R286Q |
Chr.1:
6645826-6645826
on Build GRCh38
|
4508513 |
c.868C>T |
p.R290W |
Chr.1:
6645905-6645905
on Build GRCh38
|
272600 |
c.817C>T |
p.R273* |
Chr.1:
6645866-6645866
on Build GRCh38
|
272601 |
c.907C>T |
p.R303* |
Chr.1:
6645866-6645866
on Build GRCh38
|
4009537 |
c.633-1G>A |
p.? |
Chr.1:
6645979-6645979
on Build GRCh38
|
4009531 |
c.659A>G |
p.Q220R |
Chr.1:
6645952-6645952
on Build GRCh38
|
106437 |
c.712A>T |
p.T238S |
Chr.1:
6645971-6645971
on Build GRCh38
|
5789142 |
c.769G>A |
p.V257I |
Chr.1:
6645914-6645914
on Build GRCh38
|
3491934 |
c.750C>T |
p.I250I |
Chr.1:
6645933-6645933
on Build GRCh38
|
4144165 |
c.878T>C |
p.F293S |
Chr.1:
6645805-6645805
on Build GRCh38
|
6063924 |
c.671G>A |
p.R224H |
Chr.1:
6645940-6645940
on Build GRCh38
|
5789143 |
c.697G>A |
p.V233I |
Chr.1:
6645914-6645914
on Build GRCh38
|
3400964 |
c.858A>G |
p.R286R |
Chr.1:
6645825-6645825
on Build GRCh38
|
4009533 |
c.711G>A |
p.V237V |
Chr.1:
6645972-6645972
on Build GRCh38
|
4009535 |
c.801G>A |
p.V267V |
Chr.1:
6645972-6645972
on Build GRCh38
|
3491935 |
c.678C>T |
p.I226I |
Chr.1:
6645933-6645933
on Build GRCh38
|
6063925 |
c.833G>A |
p.R278H |
Chr.1:
6645940-6645940
on Build GRCh38
|
6647183 |
c.740+5C>T |
p.? |
Chr.1:
6645866-6645866
on Build GRCh38
|
5789144 |
c.859G>A |
p.V287I |
Chr.1:
6645914-6645914
on Build GRCh38
|
6437659 |
c.689T>C |
p.L230P |
Chr.1:
6645922-6645922
on Build GRCh38
|
6063923 |
c.743G>A |
p.R248H |
Chr.1:
6645940-6645940
on Build GRCh38
|
4144169 |
c.868A>C |
p.T290P |
Chr.1:
6645815-6645815
on Build GRCh38
|
4144170 |
c.958A>C |
p.T320P |
Chr.1:
6645815-6645815
on Build GRCh38
|
6437658 |
c.761T>C |
p.L254P |
Chr.1:
6645922-6645922
on Build GRCh38
|
7085909 |
c.959C>G |
p.T320S |
Chr.1:
6645814-6645814
on Build GRCh38
|
4144166 |
c.968T>C |
p.F323S |
Chr.1:
6645805-6645805
on Build GRCh38
|
6647186 |
c.947G>A |
p.R316Q |
Chr.1:
6645826-6645826
on Build GRCh38
|
2239888 |
c.957A>T |
p.K319N |
Chr.1:
6645816-6645816
on Build GRCh38
|
6437660 |
c.851T>C |
p.L284P |
Chr.1:
6645922-6645922
on Build GRCh38
|
2239897 |
c.765C>T |
p.T255T |
Chr.1:
6645918-6645918
on Build GRCh38
|
3751367 |
c.799G>A |
p.V267M |
Chr.1:
6645884-6645884
on Build GRCh38
|
4508511 |
c.778C>T |
p.R260W |
Chr.1:
6645905-6645905
on Build GRCh38
|
3491936 |
c.840C>T |
p.I280I |
Chr.1:
6645933-6645933
on Build GRCh38
|
3400965 |
c.948A>G |
p.R316R |
Chr.1:
6645825-6645825
on Build GRCh38
|
4009534 |
c.639G>A |
p.V213V |
Chr.1:
6645972-6645972
on Build GRCh38
|
911717 |
c.751C>T |
p.R251* |
Chr.1:
6645932-6645932
on Build GRCh38
|
290603 |
c.813_814delTG |
p.A272fs*41 |
Chr.1:
6645959-6645960
on Build GRCh38
|
290602 |
c.723_724delTG |
p.A242fs*41 |
Chr.1:
6645959-6645960
on Build GRCh38
|
4678693 |
c.818G>A |
p.R273Q |
Chr.1:
6645865-6645865
on Build GRCh38
|
7085908 |
c.869C>G |
p.T290S |
Chr.1:
6645814-6645814
on Build GRCh38
|
4508512 |
c.706C>T |
p.R236W |
Chr.1:
6645905-6645905
on Build GRCh38
|
3751369 |
c.889G>A |
p.V297M |
Chr.1:
6645884-6645884
on Build GRCh38
|
4009536 |
c.705-1G>A |
p.? |
Chr.1:
6645979-6645979
on Build GRCh38
|
911718 |
c.841C>T |
p.R281* |
Chr.1:
6645932-6645932
on Build GRCh38
|
4678695 |
c.908G>A |
p.R303Q |
Chr.1:
6645865-6645865
on Build GRCh38
|
4009530 |
c.731A>G |
p.Q244R |
Chr.1:
6645952-6645952
on Build GRCh38
|
4240826 |
c.693C>T |
p.T231T |
Chr.1:
6645918-6645918
on Build GRCh38
|