| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332878 |
| Start |
20159592:20159592(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.769C>G |
| AA Mutation |
p.Pro257Ala(p.P257A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000332878 |
| Start |
20159863:20159863(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146810957
|
| CDS Mutation |
c.498C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000332878 |
| Start |
20159843:20159843(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.518delA |
| AA Mutation |
p.Asn173MetfsTer11(p.N173Mfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |