| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.228377508G>A | CA1440199 | OBSCN | c.26170G>A (p.Glu8724Lys) c.23302G>A (p.Glu7768Lys) c.24844G>A (p.Glu8282Lys) c.1845G>A n.1603G>A c.1085G>A c.23299G>A (p.Glu7767Lys) c.26476G>A (p.Glu8826Lys) c.26473G>A (p.Glu8825Lys) c.26440G>A (p.Glu8814Lys) c.26212G>A (p.Glu8738Lys) c.26200G>A (p.Glu8734Lys) c.26167G>A (p.Glu8723Lys) c.25948G>A (p.Glu8650Lys) c.25924G>A (p.Glu8642Lys) c.25684G>A (p.Glu8562Lys) c.25420G>A (p.Glu8474Lys) c.25354G>A (p.Glu8452Lys) c.26326G>A (p.Glu8776Lys) c.25936G>A (p.Glu8646Lys) c.25900G>A (p.Glu8634Lys) c.25894G>A (p.Glu8632Lys) c.24892G>A (p.Glu8298Lys) c.23572G>A (p.Glu7858Lys) c.25903G>A (p.Glu8635Lys) c.25372G>A (p.Glu8458Lys) c.24628G>A (p.Glu8210Lys) c.24310G>A (p.Glu8104Lys) c.24034G>A (p.Glu8012Lys) c.26521G>A (p.Glu8841Lys) c.26518G>A (p.Glu8840Lys) c.26371G>A (p.Glu8791Lys) c.26257G>A (p.Glu8753Lys) c.26245G>A (p.Glu8749Lys) c.25993G>A (p.Glu8665Lys) c.25981G>A (p.Glu8661Lys) c.25969G>A (p.Glu8657Lys) c.25897G>A (p.Glu8633Lys) c.25729G>A (p.Glu8577Lys) c.25465G>A (p.Glu8489Lys) c.24937G>A (p.Glu8313Lys) c.23617G>A (p.Glu7873Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.228377508G>C | CA345162068 | OBSCN | c.26170G>C (p.Glu8724Gln) c.23302G>C (p.Glu7768Gln) c.24844G>C (p.Glu8282Gln) c.1845G>C n.1603G>C c.1085G>C c.23299G>C (p.Glu7767Gln) c.26476G>C (p.Glu8826Gln) c.26473G>C (p.Glu8825Gln) c.26440G>C (p.Glu8814Gln) c.26212G>C (p.Glu8738Gln) c.26200G>C (p.Glu8734Gln) c.26167G>C (p.Glu8723Gln) c.25948G>C (p.Glu8650Gln) c.25924G>C (p.Glu8642Gln) c.25684G>C (p.Glu8562Gln) c.25420G>C (p.Glu8474Gln) c.25354G>C (p.Glu8452Gln) c.26326G>C (p.Glu8776Gln) c.25936G>C (p.Glu8646Gln) c.25900G>C (p.Glu8634Gln) c.25894G>C (p.Glu8632Gln) c.24892G>C (p.Glu8298Gln) c.23572G>C (p.Glu7858Gln) c.25903G>C (p.Glu8635Gln) c.25372G>C (p.Glu8458Gln) c.24628G>C (p.Glu8210Gln) c.24310G>C (p.Glu8104Gln) c.24034G>C (p.Glu8012Gln) c.26521G>C (p.Glu8841Gln) c.26518G>C (p.Glu8840Gln) c.26371G>C (p.Glu8791Gln) c.26257G>C (p.Glu8753Gln) c.26245G>C (p.Glu8749Gln) c.25993G>C (p.Glu8665Gln) c.25981G>C (p.Glu8661Gln) c.25969G>C (p.Glu8657Gln) c.25897G>C (p.Glu8633Gln) c.25729G>C (p.Glu8577Gln) c.25465G>C (p.Glu8489Gln) c.24937G>C (p.Glu8313Gln) c.23617G>C (p.Glu7873Gln) | dbSNP gnomAD v2 gnomAD v4 |