| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283871 |
| Start |
120650834:120650834(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.374T>A |
| AA Mutation |
p.Ile125Lys(p.I125K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283871 |
| Start |
120646351:120646351(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.565A>T |
| AA Mutation |
p.Ser189Cys(p.S189C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283871 |
| Start |
120670454:120670454(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.255G>T |
| AA Mutation |
p.Trp85Cys(p.W85C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |