| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335295 |
| Start |
5226783:5226783(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs33948615
|
| CDS Mutation |
c.109C>G |
| AA Mutation |
p.Pro37Ala(p.P37A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000335295 |
| Start |
5225667:5225667(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.375A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000335295 |
| Start |
5226972:5226972(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.50delG |
| AA Mutation |
p.Gly17AlafsTer3(p.G17Afs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |