| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129481381T>C | CA257207 | LAMA2 | c.7679T>C (p.Leu2560Pro) c.7955T>C (p.Leu2652Pro) c.7691T>C (p.Leu2564Pro) c.7688T>C (p.Leu2563Pro) c.7943T>C (p.Leu2648Pro) c.7949T>C (p.Leu2650Pro) c.7961T>C (p.Leu2654Pro) c.6086T>C (p.Leu2029Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129481381T= | CA1663173796 | LAMA2 | c.7679T= (p.Leu2560=) c.7955T= (p.Leu2652=) c.7691T= (p.Leu2564=) c.7688T= (p.Leu2563=) c.7943T= (p.Leu2648=) c.7949T= (p.Leu2650=) c.7961T= (p.Leu2654=) c.6086T= (p.Leu2029=) | dbSNP |