| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000237305 |
| Start |
134171034:134171034(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1027A>G |
| AA Mutation |
p.Lys343Glu(p.K343E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000237305 |
| Start |
134173483:134173483(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.312C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000237305 |
| Start |
134170838:134170838(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1116delT |
| AA Mutation |
p.Phe372LeufsTer5(p.F372Lfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |