| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336596 |
| Start |
89395861:89395861(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1331A>G |
| AA Mutation |
p.Lys444Arg(p.K444R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336596 |
| Start |
89399454:89399454(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1568A>G |
| AA Mutation |
p.Lys523Arg(p.K523R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336596 |
| Start |
89399454:89399454(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1568A>C |
| AA Mutation |
p.Lys523Thr(p.K523T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |