| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334708 |
| Start |
94446433:94446433(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.815C>T |
| AA Mutation |
p.Ala272Val(p.A272V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000334708 |
| Start |
94446336:94446336(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745366755
|
| CDS Mutation |
c.912G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000334708 |
| Start |
94448284:94448293(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.482_491delATGGAGCTTT |
| AA Mutation |
p.Tyr161LeufsTer21(p.Y161Lfs*21) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |