| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000248594 |
| Start |
77626735:77626735(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1056A>C |
| AA Mutation |
p.Glu352Asp(p.E352D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000248594 |
| Start |
77626905:77626905(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780590972
|
| CDS Mutation |
c.1226A>G |
| AA Mutation |
p.Tyr409Cys(p.Y409C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000248594 |
| Start |
77611009:77611009(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.902A>T |
| AA Mutation |
p.Tyr301Phe(p.Y301F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |