| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336498 |
| Start |
148023377:148023377(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756362452
|
| CDS Mutation |
c.1831G>A |
| AA Mutation |
p.Val611Met(p.V611M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000336498 |
| Start |
147864950:147864950(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.591G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000336498 |
| Start |
148063260:148063260(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2143delT |
| AA Mutation |
p.Ser715LeufsTer6(p.S715Lfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |