| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369258 |
| Start |
147264552:147264552(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201333837
|
| CDS Mutation |
c.707G>A |
| AA Mutation |
p.Arg236His(p.R236H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369258 |
| Start |
147255863:147255863(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.398G>C |
| AA Mutation |
p.Arg133Thr(p.R133T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369258 |
| Start |
147286437:147286437(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200761960
|
| CDS Mutation |
c.2158G>A |
| AA Mutation |
p.Val720Ile(p.V720I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |