| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000395863 |
| Start |
57265789:57265789(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.334A>T |
| AA Mutation |
p.Ser112Cys(p.S112C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000395863 |
| Start |
57171071:57171071(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1184G>T |
| AA Mutation |
p.Cys395Phe(p.C395F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000395863 |
| Start |
57266076:57266076(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.47C>A |
| AA Mutation |
p.Ala16Glu(p.A16E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |