| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360534 |
| Start |
162005767:162005767(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2030A>C |
| AA Mutation |
p.Glu677Ala(p.E677A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360534 |
| Start |
162018754:162018754(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1395G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000360534 |
| Start |
162008561:162008561(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1987+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |