| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311659 |
| Start |
5508907:5508907(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201719446
|
| CDS Mutation |
c.652C>T |
| AA Mutation |
p.Arg218Trp(p.R218W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311659 |
| Start |
5507719:5507719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1840G>C |
| AA Mutation |
p.Ala614Pro(p.A614P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000311659 |
| Start |
5507906:5507906(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1653G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |