ALMS1 | Mutation | In-Frame | ENST00000264448.6 |
g.73717400_73717402delTCA
|
c.8315_8317del
|
p.S2774del
|
damaging
| SNU368 |
ALMS1 | Mutation | Missense | ENST00000264448.6 |
g.73718231A>G
|
c.9142A>G
|
p.I3048V
|
probably damaging
| HCC.1.2 |
ALMS1 | Mutation | Missense | ENST00000264448.6 |
g.73675205C>G
|
c.1548C>G
|
p.D516E
|
benign
| HCC.3 |
ALMS1 | Mutation | Missense | ENST00000264448.6 |
g.73762067T>C
|
c.9895T>C
|
p.S3299P
|
probably damaging
| SNU182 |
ALMS1 | Mutation | Missense | ENST00000264448.6 |
g.73746993A>G
|
c.9628A>G
|
p.K3210E
|
probably damaging
| SNU423 |
ALMS1 | Mutation | Missense | ENST00000264448.6 |
g.73717851T>C
|
c.8762T>C
|
p.I2921T
|
probably damaging
| PLC.PRF5 |