| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217423 |
| Start |
23687134:23687134(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.296C>A |
| AA Mutation |
p.Pro99His(p.P99H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217423 |
| Start |
23688774:23688774(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs150921984
|
| CDS Mutation |
c.196C>T |
| AA Mutation |
p.Arg66Cys(p.R66C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000217423 |
| Start |
23687121:23687121(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.309C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |