| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322002 |
| Start |
5692839:5692839(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.118G>T |
| AA Mutation |
p.Asp40Tyr(p.D40Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322002 |
| Start |
5693121:5693121(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749358189
|
| CDS Mutation |
c.400G>A |
| AA Mutation |
p.Ala134Thr(p.A134T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000322002 |
| Start |
5693474:5693474(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.753G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |