| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331837 |
| Start |
23686275:23686275(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.943C>T |
| AA Mutation |
p.Arg315Cys(p.R315C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331837 |
| Start |
23686344:23686344(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.874T>C |
| AA Mutation |
p.Ser292Pro(p.S292P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331837 |
| Start |
23686820:23686820(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754567876
|
| CDS Mutation |
c.398A>G |
| AA Mutation |
p.Lys133Arg(p.K133R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |