| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369512 |
| Start |
115286738:115286738(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.58C>T |
| AA Mutation |
p.Pro20Ser(p.P20S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000369512 |
| Start |
115286115:115286115(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs565497625
|
| CDS Mutation |
c.681G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000369512 |
| Start |
115286555:115286555(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.241C>T |
| AA Mutation |
p.Arg81Ter(p.R81*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |