| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389266 |
| Start |
30601187:30601187(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.556G>A |
| AA Mutation |
p.Glu186Lys(p.E186K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389266 |
| Start |
30617202:30617202(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1283G>A |
| AA Mutation |
p.Arg428His(p.R428H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389266 |
| Start |
30622419:30622419(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1570G>A |
| AA Mutation |
p.Glu524Lys(p.E524K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |