| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376499 |
| Start |
81620512:81620512(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374215758
|
| CDS Mutation |
c.640C>T |
| AA Mutation |
p.Arg214Cys(p.R214C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376499 |
| Start |
81634187:81634187(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143365960
|
| CDS Mutation |
c.487G>A |
| AA Mutation |
p.Gly163Ser(p.G163S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000376499 |
| Start |
81593259:81593259(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1347C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |