| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000200557 |
| Start |
44775634:44775634(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1443C>A |
| AA Mutation |
p.His481Gln(p.H481Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000200557 |
| Start |
44778011:44778011(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2130T>A |
| AA Mutation |
p.Ser710Arg(p.S710R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000200557 |
| Start |
44777557:44777557(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779076826
|
| CDS Mutation |
c.1857C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |