| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000566780 |
| Start |
78432583:78432583(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.887C>G |
| AA Mutation |
p.Ser296Cys(p.S296C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000566780 |
| Start |
78386933:78386933(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.590T>C |
| AA Mutation |
p.Phe197Ser(p.F197S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000566780 |
| Start |
78432532:78432532(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748534396
|
| CDS Mutation |
c.836G>A |
| AA Mutation |
p.Arg279His(p.R279H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |