| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341846 |
| Start |
120125852:120125852(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200991578
|
| CDS Mutation |
c.1172C>T |
| AA Mutation |
p.Pro391Leu(p.P391L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341846 |
| Start |
120128477:120128477(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.823A>G |
| AA Mutation |
p.Lys275Glu(p.K275E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341846 |
| Start |
120137353:120137353(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.679G>A |
| AA Mutation |
p.Val227Met(p.V227M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |