| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2111647G>A | CA16043509 | PKD1 | c.3520C>T (p.Gln1174Ter) n.310+693C>T n.430+693C>T n.470C>T c.233+169C>T n.790+693C>T c.473-3289C>T n.773+693C>T c.2226+693C>T (n.2226+693C>T) n.421+693C>T c.475C>T (p.Gln159Ter) c.3598C>T (p.Gln1200Ter) c.3574C>T (p.Gln1192Ter) c.3544C>T (p.Gln1182Ter) c.3526C>T (p.Gln1176Ter) c.3472C>T (p.Gln1158Ter) c.3391C>T (p.Gln1131Ter) c.3334C>T (p.Gln1112Ter) c.1420C>T (p.Gln474Ter) c.598C>T (p.Gln200Ter) n.3613C>T c.3640C>T (p.Gln1214Ter) c.3568C>T (p.Gln1190Ter) c.3430C>T (p.Gln1144Ter) c.1516C>T (p.Gln506Ter) | ClinVar dbSNP |
| 16 | g.2111647G= | CA2202047737 | PKD1 | c.3520C= (p.Gln1174=) n.310+693C= n.430+693C= n.470C= c.233+169C= n.790+693C= c.473-3289C= n.773+693C= c.2226+693C= (n.2226+693C=) n.421+693C= c.475C= (p.Gln159=) c.3598C= (p.Gln1200=) c.3574C= (p.Gln1192=) c.3544C= (p.Gln1182=) c.3526C= (p.Gln1176=) c.3472C= (p.Gln1158=) c.3391C= (p.Gln1131=) c.3334C= (p.Gln1112=) c.1420C= (p.Gln474=) c.598C= (p.Gln200=) n.3613C= c.3640C= (p.Gln1214=) c.3568C= (p.Gln1190=) c.3430C= (p.Gln1144=) c.1516C= (p.Gln506=) | dbSNP |