| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361727 |
| Start |
146774309:146774309(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs137924687
|
| CDS Mutation |
c.136G>A |
| AA Mutation |
p.Val46Met(p.V46M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361727 |
| Start |
148147652:148147652(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141617212
|
| CDS Mutation |
c.2716C>T |
| AA Mutation |
p.Arg906Cys(p.R906C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000361727 |
| Start |
146839754:146839754(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs267601384
|
| CDS Mutation |
c.252G>A |
| AA Mutation |
p.Trp84Ter(p.W84*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |