| ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000361972 |
| Start |
7243666:7243666(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1012C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000361972 |
| Start |
7163828:7163828(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2627delA |
| AA Mutation |
p.Lys876SerfsTer36(p.K876Sfs*36) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000361972 |
| Start |
7285897:7285897(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.494C>A |
| AA Mutation |
p.Ser165Ter(p.S165*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |