| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284818 |
| Start |
73991464:73991464(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.22T>C |
| AA Mutation |
p.Ser8Pro(p.S8P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000284818 |
| Start |
73991458:73991458(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.22delT |
| AA Mutation |
p.Ser8ProfsTer45(p.S8Pfs*45) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000284818 |
| Start |
74010072:74010072(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.274G>T |
| AA Mutation |
p.Glu92Ter(p.E92*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |