| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359308 |
| Start |
41661345:41661345(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs61754572
|
| CDS Mutation |
c.1537G>A |
| AA Mutation |
p.Ala513Thr(p.A513T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359308 |
| Start |
41637758:41637758(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.740G>A |
| AA Mutation |
p.Arg247His(p.R247H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359308 |
| Start |
41636234:41636234(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.317A>G |
| AA Mutation |
p.Gln106Arg(p.Q106R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |