| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2090688G>A | CA119364 | PKD1 | c.12124C>T (p.Gln4042Ter) c.12121C>T (p.Gln4041Ter) n.152C>T c.9079C>T (p.Gln3027Ter) c.12202C>T (p.Gln4068Ter) c.12199C>T (p.Gln4067Ter) c.12184C>T (p.Gln4062Ter) c.12178C>T (p.Gln4060Ter) c.12175C>T (p.Gln4059Ter) c.12148C>T (p.Gln4050Ter) c.12130C>T (p.Gln4044Ter) c.12076C>T (p.Gln4026Ter) c.11995C>T (p.Gln3999Ter) c.11938C>T (p.Gln3980Ter) c.10024C>T (p.Gln3342Ter) c.9202C>T (p.Gln3068Ter) n.12042C>T c.12244C>T (p.Gln4082Ter) c.12172C>T (p.Gln4058Ter) c.12034C>T (p.Gln4012Ter) c.10120C>T (p.Gln3374Ter) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2090688G= | CA2202042267 | PKD1 | c.12124C= (p.Gln4042=) c.12121C= (p.Gln4041=) n.152C= c.9079C= (p.Gln3027=) c.12202C= (p.Gln4068=) c.12199C= (p.Gln4067=) c.12184C= (p.Gln4062=) c.12178C= (p.Gln4060=) c.12175C= (p.Gln4059=) c.12148C= (p.Gln4050=) c.12130C= (p.Gln4044=) c.12076C= (p.Gln4026=) c.11995C= (p.Gln3999=) c.11938C= (p.Gln3980=) c.10024C= (p.Gln3342=) c.9202C= (p.Gln3068=) n.12042C= c.12244C= (p.Gln4082=) c.12172C= (p.Gln4058=) c.12034C= (p.Gln4012=) c.10120C= (p.Gln3374=) | dbSNP |