| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396009 |
| Start |
51432327:51432327(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373570203
|
| CDS Mutation |
c.2462G>A |
| AA Mutation |
p.Arg821His(p.R821H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396009 |
| Start |
51524074:51524074(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.167C>T |
| AA Mutation |
p.Ser56Phe(p.S56F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000396009 |
| Start |
51454683:51454683(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1714C>T |
| AA Mutation |
p.Arg572Ter(p.R572*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |