| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293778 |
| Start |
4735371:4735371(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.496T>C |
| AA Mutation |
p.Ser166Pro(p.S166P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000293778 |
| Start |
4735261:4735261(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.606T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000293778 |
| Start |
4735226:4735226(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.641delA |
| AA Mutation |
p.Asn214MetfsTer82(p.N214Mfs*82) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |