| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000245414 |
| Start |
132487984:132487984(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.129G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000245414 |
| Start |
132487007:132487007(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.311C>A |
| AA Mutation |
p.Ser104Ter(p.S104*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000245414 |
| Start |
132486954:132486954(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.364G>T |
| AA Mutation |
p.Glu122Ter(p.E122*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |