| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2099955G>A | CA347279 | PKD1 | c.9829C>T (p.Arg3277Cys) n.2908C>T n.638C>T n.1473C>T n.1566C>T n.3715C>T n.3965C>T c.4391C>T (n.4391C>T) n.4065C>T n.1562C>T n.319C>T c.1431C>T n.273C>T n.252C>T c.6784C>T (p.Arg2262Cys) c.9907C>T (p.Arg3303Cys) c.9889C>T (p.Arg3297Cys) c.9883C>T (p.Arg3295Cys) c.9853C>T (p.Arg3285Cys) c.9835C>T (p.Arg3279Cys) c.9781C>T (p.Arg3261Cys) c.9700C>T (p.Arg3234Cys) c.9643C>T (p.Arg3215Cys) c.7729C>T (p.Arg2577Cys) c.6907C>T (p.Arg2303Cys) n.9922C>T c.9949C>T (p.Arg3317Cys) c.9877C>T (p.Arg3293Cys) c.9739C>T (p.Arg3247Cys) c.7825C>T (p.Arg2609Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2099955G= | CA2202041233 | PKD1 | c.9829C= (p.Arg3277=) n.2908C= n.638C= n.1473C= n.1566C= n.3715C= n.3965C= c.4391C= (n.4391C=) n.4065C= n.1562C= n.319C= c.1431C= n.273C= n.252C= c.6784C= (p.Arg2262=) c.9907C= (p.Arg3303=) c.9889C= (p.Arg3297=) c.9883C= (p.Arg3295=) c.9853C= (p.Arg3285=) c.9835C= (p.Arg3279=) c.9781C= (p.Arg3261=) c.9700C= (p.Arg3234=) c.9643C= (p.Arg3215=) c.7729C= (p.Arg2577=) c.6907C= (p.Arg2303=) n.9922C= c.9949C= (p.Arg3317=) c.9877C= (p.Arg3293=) c.9739C= (p.Arg3247=) c.7825C= (p.Arg2609=) | dbSNP |
| 16 | g.2099955G>C | CA394353656 | PKD1 | c.9829C>G (p.Arg3277Gly) n.2908C>G n.638C>G n.1473C>G n.1566C>G n.3715C>G n.3965C>G c.4391C>G (n.4391C>G) n.4065C>G n.1562C>G n.319C>G c.1431C>G n.273C>G n.252C>G c.6784C>G (p.Arg2262Gly) c.9907C>G (p.Arg3303Gly) c.9889C>G (p.Arg3297Gly) c.9883C>G (p.Arg3295Gly) c.9853C>G (p.Arg3285Gly) c.9835C>G (p.Arg3279Gly) c.9781C>G (p.Arg3261Gly) c.9700C>G (p.Arg3234Gly) c.9643C>G (p.Arg3215Gly) c.7729C>G (p.Arg2577Gly) c.6907C>G (p.Arg2303Gly) n.9922C>G c.9949C>G (p.Arg3317Gly) c.9877C>G (p.Arg3293Gly) c.9739C>G (p.Arg3247Gly) c.7825C>G (p.Arg2609Gly) | dbSNP gnomAD v4 |