| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367872 |
| Start |
167004261:167004261(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.605T>G |
| AA Mutation |
p.Phe202Cys(p.F202C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367872 |
| Start |
167005351:167005351(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.799C>T |
| AA Mutation |
p.Arg267Ter(p.R267*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000367872 |
| Start |
167016285:167016285(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757249676
|
| CDS Mutation |
c.908+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |