| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000340342 |
| Start |
87728690:87728690(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.502G>C |
| AA Mutation |
p.Asp168His(p.D168H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000340342 |
| Start |
87728093:87728093(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.193G>C |
| AA Mutation |
p.Glu65Gln(p.E65Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000340342 |
| Start |
87729706:87729706(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.755G>T |
| AA Mutation |
p.Gly252Val(p.G252V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |