| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000404547 |
| Start |
82985451:82985451(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2009G>T |
| AA Mutation |
p.Arg670Leu(p.R670L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000404547 |
| Start |
82358787:82358787(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.872G>T |
| AA Mutation |
p.Arg291Leu(p.R291L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000404547 |
| Start |
82738628:82738628(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1005T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |