| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000183605 |
| Start |
138010292:138010292(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748868334
|
| CDS Mutation |
c.67G>A |
| AA Mutation |
p.Ala23Thr(p.A23T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000183605 |
| Start |
138010252:138010252(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.27G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000183605 |
| Start |
138023675:138023675(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761116930
|
| CDS Mutation |
c.238C>T |
| AA Mutation |
p.Arg80Ter(p.R80*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |