| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334619 |
| Start |
6270322:6270322(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200729292
|
| CDS Mutation |
c.638G>A |
| AA Mutation |
p.Arg213Gln(p.R213Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000334619 |
| Start |
6270203:6270203(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.519C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000334619 |
| Start |
6271009:6271009(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.812-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |