| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324001 |
| Start |
40395662:40395662(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752531623
|
| CDS Mutation |
c.2690G>A |
| AA Mutation |
p.Arg897Gln(p.R897Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000324001 |
| Start |
40395445:40395445(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2907T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000324001 |
| Start |
40396953:40396953(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1399G>T |
| AA Mutation |
p.Glu467Ter(p.E467*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |