| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309099 |
| Start |
69005366:69005366(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755456887
|
| CDS Mutation |
c.944G>A |
| AA Mutation |
p.Arg315Gln(p.R315Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000309099 |
| Start |
69005488:69005488(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs144312357
|
| CDS Mutation |
c.822C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000309099 |
| Start |
69005373:69005373(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.937delG |
| AA Mutation |
p.Ala313ProfsTer110(p.A313Pfs*110) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |