| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000066544 |
| Start |
47172019:47172019(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.149G>A |
| AA Mutation |
p.Arg50His(p.R50H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000066544 |
| Start |
47138880:47138880(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1563A>G |
| AA Mutation |
p.Ile521Met(p.I521M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000066544 |
| Start |
47142229:47142229(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1378G>T |
| AA Mutation |
p.Glu460Ter(p.E460*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |