| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379389 |
| Start |
1014410:1014410(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.430C>T |
| AA Mutation |
p.Pro144Ser(p.P144S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379389 |
| Start |
1014452:1014452(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139357483
|
| CDS Mutation |
c.472G>A |
| AA Mutation |
p.Gly158Ser(p.G158S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000379389 |
| Start |
1014343:1014343(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.363G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |