| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321728 |
| Start |
23836230:23836230(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.55C>T |
| AA Mutation |
p.Arg19Cys(p.R19C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321728 |
| Start |
24180838:24180838(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1443G>T |
| AA Mutation |
p.Lys481Asn(p.K481N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000321728 |
| Start |
24092846:24092846(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs543897172
|
| CDS Mutation |
c.585C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |