| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397583 |
| Start |
563636:563636(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1113G>T |
| AA Mutation |
p.Gln371His(p.Q371H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397583 |
| Start |
562253:562253(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.299G>A |
| AA Mutation |
p.Cys100Tyr(p.C100Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000397583 |
| Start |
561891:561891(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.123A>G |
| AA Mutation |
p.Ile41Met(p.I41M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |