| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335351 |
| Start |
62857531:62857531(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200910523
|
| CDS Mutation |
c.1102G>C |
| AA Mutation |
p.Gly368Arg(p.G368R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335351 |
| Start |
62857590:62857590(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779829916
|
| CDS Mutation |
c.1043G>A |
| AA Mutation |
p.Arg348His(p.R348H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000335351 |
| Start |
62857631:62857631(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs193288319
|
| CDS Mutation |
c.1002G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |