| ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000370768 |
| Start |
77964258:77964258(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.936G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000370768 |
| Start |
77968170:77968170(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.245delA |
| AA Mutation |
p.Asn82MetfsTer19(p.N82Mfs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000370768 |
| Start |
77960218:77960218(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1542T>A |
| AA Mutation |
p.Tyr514Ter(p.Y514*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |