| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000306534 |
| Start |
124891431:124891431(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749338809
|
| CDS Mutation |
c.1816C>T |
| AA Mutation |
p.Arg606Cys(p.R606C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000306534 |
| Start |
124895838:124895838(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.754C>T |
| AA Mutation |
p.Pro252Ser(p.P252S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000306534 |
| Start |
124895530:124895530(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.963C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |