| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297848 |
| Start |
120147848:120147848(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6G>T |
| AA Mutation |
p.Lys2Asn(p.K2N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297848 |
| Start |
120231524:120231524(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761443499
|
| CDS Mutation |
c.2255G>A |
| AA Mutation |
p.Arg752Gln(p.R752Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000297848 |
| Start |
120250738:120250738(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs113536778
|
| CDS Mutation |
c.2724C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |