| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288078 |
| Start |
70479274:70479274(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3024G>C |
| AA Mutation |
p.Met1008Ile(p.M1008I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288078 |
| Start |
70466153:70466153(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.307G>T |
| AA Mutation |
p.Asp103Tyr(p.D103Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000288078 |
| Start |
70468884:70468884(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753351332
|
| CDS Mutation |
c.699C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |