| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377970 |
| Start |
127740844:127740844(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1206C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000377970 |
| Start |
127740827:127740827(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1194delA |
| AA Mutation |
p.Ala399ProfsTer29(p.A399Pfs*29) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000377970 |
| Start |
127740483:127740485(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.847_849delTCT |
| AA Mutation |
p.Ser283del(p.S283del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |