| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318438 |
| Start |
39203912:39203912(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.343C>T |
| AA Mutation |
p.Arg115Cys(p.R115C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318438 |
| Start |
39203872:39203872(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199698694
|
| CDS Mutation |
c.383C>T |
| AA Mutation |
p.Ala128Val(p.A128V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000318438 |
| Start |
39204210:39204210(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.45C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |