462731 |
c.947C>G |
p.P316R |
Chr.1:
119033047-119033047
on Build GRCh38
|
3472174 |
c.1020A>G |
p.A340A |
Chr.1:
119032974-119032974
on Build GRCh38
|
3472173 |
c.1057G>A |
p.V353M |
Chr.1:
119032937-119032937
on Build GRCh38
|
4021231 |
c.1031A>C |
p.E344A |
Chr.1:
119032963-119032963
on Build GRCh38
|
364904 |
c.1018G>C |
p.A340P |
Chr.1:
119032976-119032976
on Build GRCh38
|
4740739 |
c.1030G>T |
p.E344* |
Chr.1:
119032964-119032964
on Build GRCh38
|
675050 |
c.1028A>G |
p.K343R |
Chr.1:
119032966-119032966
on Build GRCh38
|
5914835 |
c.1016C>T |
p.S339L |
Chr.1:
119032978-119032978
on Build GRCh38
|
6057815 |
c.1035A>G |
p.L345L |
Chr.1:
119032959-119032959
on Build GRCh38
|
4435601 |
c.1020A>C |
p.A340A |
Chr.1:
119032974-119032974
on Build GRCh38
|
3801459 |
c.958G>T |
p.E320* |
Chr.1:
119033036-119033036
on Build GRCh38
|
1645120 |
c.1000G>A |
p.V334I |
Chr.1:
119032994-119032994
on Build GRCh38
|
894628 |
c.980A>G |
p.D327G |
Chr.1:
119033014-119033014
on Build GRCh38
|
4760642 |
c.956G>A |
p.R319H |
Chr.1:
119033038-119033038
on Build GRCh38
|
2179507 |
c.989A>T |
p.H330L |
Chr.1:
119033005-119033005
on Build GRCh38
|
6120874 |
c.983A>G |
p.K328R |
Chr.1:
119033011-119033011
on Build GRCh38
|
6821195 |
c.955C>T |
p.R319C |
Chr.1:
119033039-119033039
on Build GRCh38
|
5563596 |
c.1008A>G |
p.Q336Q |
Chr.1:
119032986-119032986
on Build GRCh38
|
6120875 |
c.994_995GA>CT |
p.E332L |
Chr.1:
119032999-119033000
on Build GRCh38
|
5646146 |
c.995A>G |
p.E332G |
Chr.1:
119032999-119032999
on Build GRCh38
|
4520925 |
c.1083G>A |
p.*361* |
Chr.1:
119032911-119032911
on Build GRCh38
|
6057816 |
c.1054G>T |
p.E352* |
Chr.1:
119032940-119032940
on Build GRCh38
|
2179505 |
c.1072G>A |
p.G358S |
Chr.1:
119032922-119032922
on Build GRCh38
|
270545 |
c.1038A>G |
p.A346A |
Chr.1:
119032956-119032956
on Build GRCh38
|