| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392701 |
| Start |
165749864:165749864(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764878326
|
| CDS Mutation |
c.1657C>T |
| AA Mutation |
p.Arg553Trp(p.R553W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000392701 |
| Start |
165755007:165755007(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1449A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000392701 |
| Start |
165757178:165757178(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1261delA |
| AA Mutation |
p.Ser421AlafsTer11(p.S421Afs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |