| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000273317 |
| Start |
45596263:45596263(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1384G>A |
| AA Mutation |
p.Ala462Thr(p.A462T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000273317 |
| Start |
45676959:45676959(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs35343448
|
| CDS Mutation |
c.1931G>A |
| AA Mutation |
p.Arg644His(p.R644H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000273317 |
| Start |
45595938:45595938(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1059G>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |