| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000294016 |
| Start |
3979234:3979234(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142198070
|
| CDS Mutation |
c.2561G>A |
| AA Mutation |
p.Arg854His(p.R854H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000294016 |
| Start |
4113831:4113831(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1612T>C |
| AA Mutation |
p.Tyr538His(p.Y538H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000294016 |
| Start |
4114630:4114630(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148841917
|
| CDS Mutation |
c.813G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |