| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324545 |
| Start |
41216374:41216374(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5807G>A |
| AA Mutation |
p.Arg1936His(p.R1936H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000324545 |
| Start |
41141056:41141056(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.861A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000324545 |
| Start |
41170029:41170029(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2671C>T |
| AA Mutation |
p.Arg891Ter(p.R891*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |