| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381059 |
| Start |
7843562:7843562(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369210177
|
| CDS Mutation |
c.167C>T |
| AA Mutation |
p.Ala56Val(p.A56V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381059 |
| Start |
7843532:7843532(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768350961
|
| CDS Mutation |
c.137G>A |
| AA Mutation |
p.Arg46His(p.R46H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381059 |
| Start |
7843525:7843525(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.130G>T |
| AA Mutation |
p.Ala44Ser(p.A44S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |