| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301455 |
| Start |
8366017:8366017(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781178060
|
| CDS Mutation |
c.382C>T |
| AA Mutation |
p.Arg128Trp(p.R128W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301455 |
| Start |
8371285:8371285(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.802G>C |
| AA Mutation |
p.Asp268His(p.D268H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000301455 |
| Start |
8371443:8371443(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769261817
|
| CDS Mutation |
c.960C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |