| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69964880T>C | CA123838 | MITF | c.1147T>C (p.Ser383Pro) c.1144T>C (p.Ser382Pro) n.1369T>C c.1120T>C (p.Ser374Pro) c.1114-34T>C (n.1114-34T>C) c.1213T>C (p.Ser405Pro) c.892T>C (p.Ser298Pro) c.1192T>C (p.Ser398Pro) c.1195T>C (p.Ser399Pro) c.874T>C (p.Ser292Pro) c.1039T>C (p.Ser347Pro) c.*539T>C (n.*539T>C) c.706T>C (p.Ser236Pro) c.1165T>C (p.Ser389Pro) c.1057T>C (p.Ser353Pro) c.1210T>C (p.Ser404Pro) c.1162T>C (p.Ser388Pro) c.1045T>C (p.Ser349Pro) c.1027T>C (p.Ser343Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69964880T= | CA1373413906 | MITF | c.1147T= (p.Ser383=) c.1144T= (p.Ser382=) n.1369T= c.1120T= (p.Ser374=) c.1114-34T= (n.1114-34T=) c.1213T= (p.Ser405=) c.892T= (p.Ser298=) c.1192T= (p.Ser398=) c.1195T= (p.Ser399=) c.874T= (p.Ser292=) c.1039T= (p.Ser347=) c.*539T= (n.*539T=) c.706T= (p.Ser236=) c.1165T= (p.Ser389=) c.1057T= (p.Ser353=) c.1210T= (p.Ser404=) c.1162T= (p.Ser388=) c.1045T= (p.Ser349=) c.1027T= (p.Ser343=) | dbSNP |