| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335508 |
| Start |
197400905:197400905(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2528A>G |
| AA Mutation |
p.Lys843Arg(p.K843R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335508 |
| Start |
197401989:197401989(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776846119
|
| CDS Mutation |
c.2219G>A |
| AA Mutation |
p.Gly740Glu(p.G740E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335508 |
| Start |
197402635:197402635(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377023736
|
| CDS Mutation |
c.1998G>C |
| AA Mutation |
p.Lys666Asn(p.K666N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |