| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372027 |
| Start |
86942858:86942858(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1926G>T |
| AA Mutation |
p.Gln642His(p.Q642H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372027 |
| Start |
86943760:86943760(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1024A>C |
| AA Mutation |
p.Lys342Gln(p.K342Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372027 |
| Start |
86942539:86942539(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776475051
|
| CDS Mutation |
c.2245C>T |
| AA Mutation |
p.Arg749Trp(p.R749W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |