| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295688 |
| Start |
156318975:156318975(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.652G>A |
| AA Mutation |
p.Val218Ile(p.V218I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295688 |
| Start |
156318889:156318889(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.738A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295688 |
| Start |
156320857:156320857(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.591delA |
| AA Mutation |
p.Lys197AsnfsTer23(p.K197Nfs*23) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |