| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361627 |
| Start |
32636727:32636727(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1954G>A |
| AA Mutation |
p.Val652Ile(p.V652I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000361627 |
| Start |
32616338:32616338(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.127G>C |
| AA Mutation |
p.Gly43Arg(p.G43R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000361627 |
| Start |
32633031:32633031(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764281924
|
| CDS Mutation |
c.1158A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |