Gene >> BTC
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000395743 |
| Start |
74755937:74755937(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.203G>T |
| AA Mutation |
p.Arg68Met(p.R68M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000395743 |
| Start |
74770082:74770082(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.139G>T |
| AA Mutation |
p.Gly47Ter(p.G47*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |