| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000517328 |
| Start |
21750910:21750910(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.472A>G |
| AA Mutation |
p.Ser158Gly(p.S158G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000517328 |
| Start |
21750674:21750674(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.708C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000517328 |
| Start |
21750797:21750797(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.585C>A |
| AA Mutation |
p.Cys195Ter(p.C195*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |