| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000380774 |
| Start |
69391931:69391931(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1140A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000380774 |
| Start |
69393387:69393391(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1343_1347delTATTT |
| AA Mutation |
p.Leu448Ter(p.L448*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000380774 |
| Start |
69391872:69391872(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1081A>T |
| AA Mutation |
p.Lys361Ter(p.K361*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |