| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303127 |
| Start |
177338575:177338575(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376459001
|
| CDS Mutation |
c.346G>A |
| AA Mutation |
p.Val116Ile(p.V116I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303127 |
| Start |
177334332:177334332(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759011158
|
| CDS Mutation |
c.862G>A |
| AA Mutation |
p.Asp288Asn(p.D288N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000303127 |
| Start |
177338498:177338498(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.423C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |