| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000438700 |
| Start |
27403355:27403355(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1214T>G |
| AA Mutation |
p.Phe405Cys(p.F405C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000438700 |
| Start |
27413524:27413524(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs549609218
|
| CDS Mutation |
c.727C>T |
| AA Mutation |
p.Arg243Trp(p.R243W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000438700 |
| Start |
27413210:27413210(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1041C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |