| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297338 |
| Start |
116866609:116866609(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.121G>A |
| AA Mutation |
p.Val41Met(p.V41M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297338 |
| Start |
116857333:116857333(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.622C>T |
| AA Mutation |
p.His208Tyr(p.H208Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000297338 |
| Start |
116852633:116852633(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201779352
|
| CDS Mutation |
c.1237T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |