| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000406938 |
| Start |
50581485:50581485(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200220080
|
| CDS Mutation |
c.516G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000406938 |
| Start |
50581851:50581851(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.345C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000406938 |
| Start |
50582603:50582604(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.178dupG |
| AA Mutation |
p.Ala60GlyfsTer150(p.A60Gfs*150) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |