| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359546 |
| Start |
175879959:175879959(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.319G>A |
| AA Mutation |
p.Asp107Asn(p.D107N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359546 |
| Start |
175879955:175879955(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.315C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000359546 |
| Start |
175878936:175878936(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.65delG |
| AA Mutation |
p.Gly22GlufsTer51(p.G22Efs*51) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |