| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264246 |
| Start |
119544780:119544780(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767373131
|
| CDS Mutation |
c.188G>A |
| AA Mutation |
p.Arg63His(p.R63H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264246 |
| Start |
119544564:119544564(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370971089
|
| CDS Mutation |
c.404C>T |
| AA Mutation |
p.Thr135Met(p.T135M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264246 |
| Start |
119544605:119544605(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.363T>A |
| AA Mutation |
p.Tyr121Ter(p.Y121*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |