| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303225 |
| Start |
5843795:5843795(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1045A>T |
| AA Mutation |
p.Arg349Trp(p.R349W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303225 |
| Start |
5844146:5844146(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.694G>A |
| AA Mutation |
p.Gly232Arg(p.G232R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000303225 |
| Start |
5844830:5844830(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.10C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |