| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262953 |
| Start |
3006512:3006512(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1408C>G |
| AA Mutation |
p.Gln470Glu(p.Q470E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262953 |
| Start |
3025062:3025062(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.252G>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262953 |
| Start |
3005826:3005826(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1643delC |
| AA Mutation |
p.Pro548GlnfsTer130(p.P548Qfs*130) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |