| ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000322315 |
| Start |
3589554:3589554(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769477337
|
| CDS Mutation |
c.704C>T |
| AA Mutation |
p.Ala235Val(p.A235V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000322315 |
| Start |
3589489:3589489(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371566042
|
| CDS Mutation |
c.639G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000322315 |
| Start |
3586545:3586545(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.281delG |
| AA Mutation |
p.Gly94ValfsTer3(p.G94Vfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |