| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264029 |
| Start |
118662922:118662922(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782231713
|
| CDS Mutation |
c.382G>A |
| AA Mutation |
p.Ala128Thr(p.A128T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264029 |
| Start |
118658400:118658400(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1641G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264029 |
| Start |
118658699:118658699(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1580delG |
| AA Mutation |
p.Gly527GlufsTer18(p.G527Efs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |