| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341156 |
| Start |
57632044:57632044(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.89C>T |
| AA Mutation |
p.Ala30Val(p.A30V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341156 |
| Start |
57629092:57629092(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200510000
|
| CDS Mutation |
c.767C>T |
| AA Mutation |
p.Pro256Leu(p.P256L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000341156 |
| Start |
57632019:57632019(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.114G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |