| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000370455 |
| Start |
70732454:70732454(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.195T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000370455 |
| Start |
70836971:70836971(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs766085867
|
| CDS Mutation |
c.613delA |
| AA Mutation |
p.Ser205ValfsTer15(p.S205Vfs*15) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000370455 |
| Start |
70668061:70668062(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.38_39delTG |
| AA Mutation |
p.Leu13GlnfsTer48(p.L13Qfs*48) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |