| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000323927 |
| Start |
137184980:137184980(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs543676776
|
| CDS Mutation |
c.981C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000323927 |
| Start |
137175363:137175363(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2130delC |
| AA Mutation |
p.Gly711AlafsTer52(p.G711Afs*52) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000323927 |
| Start |
137184916:137184916(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1045C>T |
| AA Mutation |
p.Arg349Ter(p.R349*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |