| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000517399 |
| Start |
212972815:212972815(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.733A>G |
| AA Mutation |
p.Lys245Glu(p.K245E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000517399 |
| Start |
212951624:212951624(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.82C>T |
| AA Mutation |
p.Arg28Trp(p.R28W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000517399 |
| Start |
212951686:212951686(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.144G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |