| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000345425 |
| Start |
14480638:14480638(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767290686
|
| CDS Mutation |
c.429C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000345425 |
| Start |
14482886:14482886(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.91delG |
| AA Mutation |
p.Glu31SerfsTer67(p.E31Sfs*67) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000345425 |
| Start |
14480723:14480723(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.344delG |
| AA Mutation |
p.Gly115AlafsTer13(p.G115Afs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |