| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295809 |
| Start |
159045424:159045424(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1457A>T |
| AA Mutation |
p.Gln486Leu(p.Q486L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295809 |
| Start |
159032531:159032531(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1169A>G |
| AA Mutation |
p.Lys390Arg(p.K390R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295809 |
| Start |
159018284:159018284(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.605A>T |
| AA Mutation |
p.Lys202Ile(p.K202I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |