| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2106599G>A | CA276779725 | PKD1 | c.7288C>T (p.Arg2430Ter) n.533C>T c.456C>T n.347C>T n.1013C>T n.1034C>T c.1975C>T (p.Arg659Ter) n.1291C>T n.996C>T c.2449C>T (n.2449C>T) n.644C>T c.4243C>T (p.Arg1415Ter) c.7366C>T (p.Arg2456Ter) c.7342C>T (p.Arg2448Ter) c.7312C>T (p.Arg2438Ter) c.7294C>T (p.Arg2432Ter) c.7240C>T (p.Arg2414Ter) c.7159C>T (p.Arg2387Ter) c.7102C>T (p.Arg2368Ter) c.5188C>T (p.Arg1730Ter) c.4366C>T (p.Arg1456Ter) n.7381C>T c.7408C>T (p.Arg2470Ter) c.7336C>T (p.Arg2446Ter) c.7198C>T (p.Arg2400Ter) c.5284C>T (p.Arg1762Ter) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2106599G= | CA2202035281 | PKD1 | c.7288C= (p.Arg2430=) n.533C= c.456C= n.347C= n.1013C= n.1034C= c.1975C= (p.Arg659=) n.1291C= n.996C= c.2449C= (n.2449C=) n.644C= c.4243C= (p.Arg1415=) c.7366C= (p.Arg2456=) c.7342C= (p.Arg2448=) c.7312C= (p.Arg2438=) c.7294C= (p.Arg2432=) c.7240C= (p.Arg2414=) c.7159C= (p.Arg2387=) c.7102C= (p.Arg2368=) c.5188C= (p.Arg1730=) c.4366C= (p.Arg1456=) n.7381C= c.7408C= (p.Arg2470=) c.7336C= (p.Arg2446=) c.7198C= (p.Arg2400=) c.5284C= (p.Arg1762=) | dbSNP |
| 16 | g.2106599G>C | CA394370391 | PKD1 | c.7288C>G (p.Arg2430Gly) n.533C>G c.456C>G n.347C>G n.1013C>G n.1034C>G c.1975C>G (p.Arg659Gly) n.1291C>G n.996C>G c.2449C>G (n.2449C>G) n.644C>G c.4243C>G (p.Arg1415Gly) c.7366C>G (p.Arg2456Gly) c.7342C>G (p.Arg2448Gly) c.7312C>G (p.Arg2438Gly) c.7294C>G (p.Arg2432Gly) c.7240C>G (p.Arg2414Gly) c.7159C>G (p.Arg2387Gly) c.7102C>G (p.Arg2368Gly) c.5188C>G (p.Arg1730Gly) c.4366C>G (p.Arg1456Gly) n.7381C>G c.7408C>G (p.Arg2470Gly) c.7336C>G (p.Arg2446Gly) c.7198C>G (p.Arg2400Gly) c.5284C>G (p.Arg1762Gly) | dbSNP gnomAD v4 |