| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341590 |
| Start |
52878673:52878673(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.872T>G |
| AA Mutation |
p.Ile291Ser(p.I291S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341590 |
| Start |
52864430:52864430(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747430958
|
| CDS Mutation |
c.1573C>T |
| AA Mutation |
p.Arg525Cys(p.R525C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341590 |
| Start |
52893401:52893401(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.418C>G |
| AA Mutation |
p.Leu140Val(p.L140V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |