| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371899 |
| Start |
133472066:133472066(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1479G>C |
| AA Mutation |
p.Gln493His(p.Q493H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371899 |
| Start |
133474003:133474003(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767052534
|
| CDS Mutation |
c.1013G>T |
| AA Mutation |
p.Arg338Leu(p.R338L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371899 |
| Start |
133473522:133473522(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1115C>G |
| AA Mutation |
p.Thr372Ser(p.T372S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |