Gene >> AQP5
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293599 |
| Start |
49964146:49964146(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.583G>C |
| AA Mutation |
p.Val195Leu(p.V195L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293599 |
| Start |
49965007:49965007(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.628C>T |
| AA Mutation |
p.Pro210Ser(p.P210S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |