| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371929 |
| Start |
133437767:133437767(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1454A>G |
| AA Mutation |
p.His485Arg(p.H485R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371929 |
| Start |
133443444:133443444(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2303G>T |
| AA Mutation |
p.Arg768Leu(p.R768L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000371929 |
| Start |
133445737:133445737(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2649A>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |