| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265022 |
| Start |
186275570:186275570(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200659436
|
| CDS Mutation |
c.887G>A |
| AA Mutation |
p.Arg296His(p.R296H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265022 |
| Start |
186257911:186257911(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1453T>G |
| AA Mutation |
p.Phe485Val(p.F485V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000265022 |
| Start |
186211846:186211846(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs547522584
|
| CDS Mutation |
c.1866G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |