| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379727 |
| Start |
74722805:74722805(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368952331
|
| CDS Mutation |
c.293G>A |
| AA Mutation |
p.Arg98Gln(p.R98Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379727 |
| Start |
74722500:74722500(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.598G>C |
| AA Mutation |
p.Ala200Pro(p.A200P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000379727 |
| Start |
74722444:74722444(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.654C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |