| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000201979 |
| Start |
31476474:31476474(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.29A>G |
| AA Mutation |
p.Lys10Arg(p.K10R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000201979 |
| Start |
31482465:31482465(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199660041
|
| CDS Mutation |
c.602G>A |
| AA Mutation |
p.Arg201His(p.R201H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000201979 |
| Start |
31482403:31482403(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.540G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |