Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.51747971A>C | CA364420624 | PKHD1 | c.9645T>G (p.Ile3215Met) c.9516T>G (p.Ile3172Met) c.9507T>G (p.Ile3169Met) c.9003T>G (p.Ile3001Met) c.8934T>G (p.Ile2978Met) c.3720T>G (p.Ile1240Met) c.9570T>G (p.Ile3190Met) c.9450T>G (p.Ile3150Met) c.9381T>G (p.Ile3127Met) c.7785T>G (p.Ile2595Met) n.9921T>G | |
6 | g.51747971A>G | CA450613646 | PKHD1 | c.9645T>C (p.Ile3215=) c.9516T>C (p.Ile3172=) c.9507T>C (p.Ile3169=) c.9003T>C (p.Ile3001=) c.8934T>C (p.Ile2978=) c.3720T>C (p.Ile1240=) c.9570T>C (p.Ile3190=) c.9450T>C (p.Ile3150=) c.9381T>C (p.Ile3127=) c.7785T>C (p.Ile2595=) n.9921T>C | |
6 | g.51747971A>T | CA450613648 | PKHD1 | c.9645T>A (p.Ile3215=) c.9516T>A (p.Ile3172=) c.9507T>A (p.Ile3169=) c.9003T>A (p.Ile3001=) c.8934T>A (p.Ile2978=) c.3720T>A (p.Ile1240=) c.9570T>A (p.Ile3190=) c.9450T>A (p.Ile3150=) c.9381T>A (p.Ile3127=) c.7785T>A (p.Ile2595=) n.9921T>A | |
6 | g.51747972A= | CA1628502220 | PKHD1 | c.9644T= (p.Ile3215=) c.9515T= (p.Ile3172=) c.9506T= (p.Ile3169=) c.9002T= (p.Ile3001=) c.8933T= (p.Ile2978=) c.3719T= (p.Ile1240=) c.9569T= (p.Ile3190=) c.9449T= (p.Ile3150=) c.9380T= (p.Ile3127=) c.7784T= (p.Ile2595=) n.9920T= | |
6 | g.51747972A>C | CA364420625 | PKHD1 | c.9644T>G (p.Ile3215Ser) c.9515T>G (p.Ile3172Ser) c.9506T>G (p.Ile3169Ser) c.9002T>G (p.Ile3001Ser) c.8933T>G (p.Ile2978Ser) c.3719T>G (p.Ile1240Ser) c.9569T>G (p.Ile3190Ser) c.9449T>G (p.Ile3150Ser) c.9380T>G (p.Ile3127Ser) c.7784T>G (p.Ile2595Ser) n.9920T>G | |
6 | g.51747972A>G | CA364420626 | PKHD1 | c.9644T>C (p.Ile3215Thr) c.9515T>C (p.Ile3172Thr) c.9506T>C (p.Ile3169Thr) c.9002T>C (p.Ile3001Thr) c.8933T>C (p.Ile2978Thr) c.3719T>C (p.Ile1240Thr) c.9569T>C (p.Ile3190Thr) c.9449T>C (p.Ile3150Thr) c.9380T>C (p.Ile3127Thr) c.7784T>C (p.Ile2595Thr) n.9920T>C | gnomAD v4 |
6 | g.51747972A>T | CA364420627 | PKHD1 | c.9644T>A (p.Ile3215Asn) c.9515T>A (p.Ile3172Asn) c.9506T>A (p.Ile3169Asn) c.9002T>A (p.Ile3001Asn) c.8933T>A (p.Ile2978Asn) c.3719T>A (p.Ile1240Asn) c.9569T>A (p.Ile3190Asn) c.9449T>A (p.Ile3150Asn) c.9380T>A (p.Ile3127Asn) c.7784T>A (p.Ile2595Asn) n.9920T>A | |
6 | g.51747972_51747973insG | CA1628502226 | PKHD1 | c.9643_9644insC (p.Ile3215ThrfsTer17) c.9514_9515insC (p.Ile3172ThrfsTer17) c.9505_9506insC (p.Ile3169ThrfsTer17) c.9001_9002insC (p.Ile3001ThrfsTer17) c.8932_8933insC (p.Ile2978ThrfsTer17) c.3718_3719insC (p.Ile1240ThrfsTer17) c.9568_9569insC (p.Ile3190ThrfsTer17) c.9448_9449insC (p.Ile3150ThrfsTer17) c.9379_9380insC (p.Ile3127ThrfsTer17) c.7783_7784insC (p.Ile2595ThrfsTer17) n.9919_9920insC | dbSNP |
6 | g.51747973T>A | CA364420628 | PKHD1 | c.9643A>T (p.Ile3215Phe) c.9514A>T (p.Ile3172Phe) c.9505A>T (p.Ile3169Phe) c.9001A>T (p.Ile3001Phe) c.8932A>T (p.Ile2978Phe) c.3718A>T (p.Ile1240Phe) c.9568A>T (p.Ile3190Phe) c.9448A>T (p.Ile3150Phe) c.9379A>T (p.Ile3127Phe) c.7783A>T (p.Ile2595Phe) n.9919A>T | |
6 | g.51747973T>C | CA364420629 | PKHD1 | c.9643A>G (p.Ile3215Val) c.9514A>G (p.Ile3172Val) c.9505A>G (p.Ile3169Val) c.9001A>G (p.Ile3001Val) c.8932A>G (p.Ile2978Val) c.3718A>G (p.Ile1240Val) c.9568A>G (p.Ile3190Val) c.9448A>G (p.Ile3150Val) c.9379A>G (p.Ile3127Val) c.7783A>G (p.Ile2595Val) n.9919A>G | gnomAD v4 |
6 | g.51747973T>G | CA364420630 | PKHD1 | c.9643A>C (p.Ile3215Leu) c.9514A>C (p.Ile3172Leu) c.9505A>C (p.Ile3169Leu) c.9001A>C (p.Ile3001Leu) c.8932A>C (p.Ile2978Leu) c.3718A>C (p.Ile1240Leu) c.9568A>C (p.Ile3190Leu) c.9448A>C (p.Ile3150Leu) c.9379A>C (p.Ile3127Leu) c.7783A>C (p.Ile2595Leu) n.9919A>C | gnomAD v4 |
6 | g.51747973T= | CA1628502223 | PKHD1 | c.9643A= (p.Ile3215=) c.9514A= (p.Ile3172=) c.9505A= (p.Ile3169=) c.9001A= (p.Ile3001=) c.8932A= (p.Ile2978=) c.3718A= (p.Ile1240=) c.9568A= (p.Ile3190=) c.9448A= (p.Ile3150=) c.9379A= (p.Ile3127=) c.7783A= (p.Ile2595=) n.9919A= | |
6 | g.51747974G>A | CA450613650 | PKHD1 | c.9642C>T (p.Cys3214=) c.9513C>T (p.Cys3171=) c.9504C>T (p.Cys3168=) c.9000C>T (p.Cys3000=) c.8931C>T (p.Cys2977=) c.3717C>T (p.Cys1239=) c.9567C>T (p.Cys3189=) c.9447C>T (p.Cys3149=) c.9378C>T (p.Cys3126=) c.7782C>T (p.Cys2594=) n.9918C>T | |
6 | g.51747974G>C | CA364420631 | PKHD1 | c.9642C>G (p.Cys3214Trp) c.9513C>G (p.Cys3171Trp) c.9504C>G (p.Cys3168Trp) c.9000C>G (p.Cys3000Trp) c.8931C>G (p.Cys2977Trp) c.3717C>G (p.Cys1239Trp) c.9567C>G (p.Cys3189Trp) c.9447C>G (p.Cys3149Trp) c.9378C>G (p.Cys3126Trp) c.7782C>G (p.Cys2594Trp) n.9918C>G | |
6 | g.51747974G>T | CA364420632 | PKHD1 | c.9642C>A (p.Cys3214Ter) c.9513C>A (p.Cys3171Ter) c.9504C>A (p.Cys3168Ter) c.9000C>A (p.Cys3000Ter) c.8931C>A (p.Cys2977Ter) c.3717C>A (p.Cys1239Ter) c.9567C>A (p.Cys3189Ter) c.9447C>A (p.Cys3149Ter) c.9378C>A (p.Cys3126Ter) c.7782C>A (p.Cys2594Ter) n.9918C>A | gnomAD v3 gnomAD v4 |
6 | g.51747974_51747975insACAG | CA1628502230 | PKHD1 | c.9642_9643insTGTC (p.Ile3215CysfsTer18) c.9513_9514insTGTC (p.Ile3172CysfsTer18) c.9504_9505insTGTC (p.Ile3169CysfsTer18) c.9000_9001insTGTC (p.Ile3001CysfsTer18) c.8931_8932insTGTC (p.Ile2978CysfsTer18) c.3717_3718insTGTC (p.Ile1240CysfsTer18) c.9567_9568insTGTC (p.Ile3190CysfsTer18) c.9447_9448insTGTC (p.Ile3150CysfsTer18) c.9378_9379insTGTC (p.Ile3127CysfsTer18) c.7782_7783insTGTC (p.Ile2595CysfsTer18) n.9918_9919insTGTC | dbSNP |
6 | g.51747975C>A | CA364420633 | PKHD1 | c.9641G>T (p.Cys3214Phe) c.9512G>T (p.Cys3171Phe) c.9503G>T (p.Cys3168Phe) c.8999G>T (p.Cys3000Phe) c.8930G>T (p.Cys2977Phe) c.3716G>T (p.Cys1239Phe) c.9566G>T (p.Cys3189Phe) c.9446G>T (p.Cys3149Phe) c.9377G>T (p.Cys3126Phe) c.7781G>T (p.Cys2594Phe) n.9917G>T | |
6 | g.51747975C>G | CA364420634 | PKHD1 | c.9641G>C (p.Cys3214Ser) c.9512G>C (p.Cys3171Ser) c.9503G>C (p.Cys3168Ser) c.8999G>C (p.Cys3000Ser) c.8930G>C (p.Cys2977Ser) c.3716G>C (p.Cys1239Ser) c.9566G>C (p.Cys3189Ser) c.9446G>C (p.Cys3149Ser) c.9377G>C (p.Cys3126Ser) c.7781G>C (p.Cys2594Ser) n.9917G>C | |
6 | g.51747975C>T | CA364420635 | PKHD1 | c.9641G>A (p.Cys3214Tyr) c.9512G>A (p.Cys3171Tyr) c.9503G>A (p.Cys3168Tyr) c.8999G>A (p.Cys3000Tyr) c.8930G>A (p.Cys2977Tyr) c.3716G>A (p.Cys1239Tyr) c.9566G>A (p.Cys3189Tyr) c.9446G>A (p.Cys3149Tyr) c.9377G>A (p.Cys3126Tyr) c.7781G>A (p.Cys2594Tyr) n.9917G>A | gnomAD v3 gnomAD v4 |
6 | g.51747976A>C | CA364420638 | PKHD1 | c.9640T>G (p.Cys3214Gly) c.9511T>G (p.Cys3171Gly) c.9502T>G (p.Cys3168Gly) c.8998T>G (p.Cys3000Gly) c.8929T>G (p.Cys2977Gly) c.3715T>G (p.Cys1239Gly) c.9565T>G (p.Cys3189Gly) c.9445T>G (p.Cys3149Gly) c.9376T>G (p.Cys3126Gly) c.7780T>G (p.Cys2594Gly) n.9916T>G | gnomAD v4 |
6 | g.51747976A>G | CA364420636 | PKHD1 | c.9640T>C (p.Cys3214Arg) c.9511T>C (p.Cys3171Arg) c.9502T>C (p.Cys3168Arg) c.8998T>C (p.Cys3000Arg) c.8929T>C (p.Cys2977Arg) c.3715T>C (p.Cys1239Arg) c.9565T>C (p.Cys3189Arg) c.9445T>C (p.Cys3149Arg) c.9376T>C (p.Cys3126Arg) c.7780T>C (p.Cys2594Arg) n.9916T>C | |
6 | g.51747976A>T | CA364420637 | PKHD1 | c.9640T>A (p.Cys3214Ser) c.9511T>A (p.Cys3171Ser) c.9502T>A (p.Cys3168Ser) c.8998T>A (p.Cys3000Ser) c.8929T>A (p.Cys2977Ser) c.3715T>A (p.Cys1239Ser) c.9565T>A (p.Cys3189Ser) c.9445T>A (p.Cys3149Ser) c.9376T>A (p.Cys3126Ser) c.7780T>A (p.Cys2594Ser) n.9916T>A | gnomAD v4 |
6 | g.51747977G>A | CA450613652 | PKHD1 | c.9639C>T (p.Asp3213=) c.9510C>T (p.Asp3170=) c.9501C>T (p.Asp3167=) c.8997C>T (p.Asp2999=) c.8928C>T (p.Asp2976=) c.3714C>T (p.Asp1238=) c.9564C>T (p.Asp3188=) c.9444C>T (p.Asp3148=) c.9375C>T (p.Asp3125=) c.7779C>T (p.Asp2593=) n.9915C>T | gnomAD v4 |
6 | g.51747977G>C | CA364420639 | PKHD1 | c.9639C>G (p.Asp3213Glu) c.9510C>G (p.Asp3170Glu) c.9501C>G (p.Asp3167Glu) c.8997C>G (p.Asp2999Glu) c.8928C>G (p.Asp2976Glu) c.3714C>G (p.Asp1238Glu) c.9564C>G (p.Asp3188Glu) c.9444C>G (p.Asp3148Glu) c.9375C>G (p.Asp3125Glu) c.7779C>G (p.Asp2593Glu) n.9915C>G | |
6 | g.51747977G>T | CA364420640 | PKHD1 | c.9639C>A (p.Asp3213Glu) c.9510C>A (p.Asp3170Glu) c.9501C>A (p.Asp3167Glu) c.8997C>A (p.Asp2999Glu) c.8928C>A (p.Asp2976Glu) c.3714C>A (p.Asp1238Glu) c.9564C>A (p.Asp3188Glu) c.9444C>A (p.Asp3148Glu) c.9375C>A (p.Asp3125Glu) c.7779C>A (p.Asp2593Glu) n.9915C>A | |
6 | g.51747978T>A | CA364420641 | PKHD1 | c.9638A>T (p.Asp3213Val) c.9509A>T (p.Asp3170Val) c.9500A>T (p.Asp3167Val) c.8996A>T (p.Asp2999Val) c.8927A>T (p.Asp2976Val) c.3713A>T (p.Asp1238Val) c.9563A>T (p.Asp3188Val) c.9443A>T (p.Asp3148Val) c.9374A>T (p.Asp3125Val) c.7778A>T (p.Asp2593Val) n.9914A>T | |
6 | g.51747978T>C | CA364420642 | PKHD1 | c.9638A>G (p.Asp3213Gly) c.9509A>G (p.Asp3170Gly) c.9500A>G (p.Asp3167Gly) c.8996A>G (p.Asp2999Gly) c.8927A>G (p.Asp2976Gly) c.3713A>G (p.Asp1238Gly) c.9563A>G (p.Asp3188Gly) c.9443A>G (p.Asp3148Gly) c.9374A>G (p.Asp3125Gly) c.7778A>G (p.Asp2593Gly) n.9914A>G | |
6 | g.51747978T>G | CA364420643 | PKHD1 | c.9638A>C (p.Asp3213Ala) c.9509A>C (p.Asp3170Ala) c.9500A>C (p.Asp3167Ala) c.8996A>C (p.Asp2999Ala) c.8927A>C (p.Asp2976Ala) c.3713A>C (p.Asp1238Ala) c.9563A>C (p.Asp3188Ala) c.9443A>C (p.Asp3148Ala) c.9374A>C (p.Asp3125Ala) c.7778A>C (p.Asp2593Ala) n.9914A>C | |
6 | g.51747979C>A | CA364420644 | PKHD1 | c.9637G>T (p.Asp3213Tyr) c.9508G>T (p.Asp3170Tyr) c.9499G>T (p.Asp3167Tyr) c.8995G>T (p.Asp2999Tyr) c.8926G>T (p.Asp2976Tyr) c.3712G>T (p.Asp1238Tyr) c.9562G>T (p.Asp3188Tyr) c.9442G>T (p.Asp3148Tyr) c.9373G>T (p.Asp3125Tyr) c.7777G>T (p.Asp2593Tyr) n.9913G>T | |
6 | g.51747979C= | CA1628502235 | PKHD1 | c.9637G= (p.Asp3213=) c.9508G= (p.Asp3170=) c.9499G= (p.Asp3167=) c.8995G= (p.Asp2999=) c.8926G= (p.Asp2976=) c.3712G= (p.Asp1238=) c.9562G= (p.Asp3188=) c.9442G= (p.Asp3148=) c.9373G= (p.Asp3125=) c.7777G= (p.Asp2593=) n.9913G= | |
6 | g.51747979C>G | CA3851360 | PKHD1 | c.9637G>C (p.Asp3213His) c.9508G>C (p.Asp3170His) c.9499G>C (p.Asp3167His) c.8995G>C (p.Asp2999His) c.8926G>C (p.Asp2976His) c.3712G>C (p.Asp1238His) c.9562G>C (p.Asp3188His) c.9442G>C (p.Asp3148His) c.9373G>C (p.Asp3125His) c.7777G>C (p.Asp2593His) n.9913G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51747979C>T | CA364420645 | PKHD1 | c.9637G>A (p.Asp3213Asn) c.9508G>A (p.Asp3170Asn) c.9499G>A (p.Asp3167Asn) c.8995G>A (p.Asp2999Asn) c.8926G>A (p.Asp2976Asn) c.3712G>A (p.Asp1238Asn) c.9562G>A (p.Asp3188Asn) c.9442G>A (p.Asp3148Asn) c.9373G>A (p.Asp3125Asn) c.7777G>A (p.Asp2593Asn) n.9913G>A | |
6 | g.51747980A= | CA1628502236 | PKHD1 | c.9636T= (p.Phe3212=) c.9507T= (p.Phe3169=) c.9498T= (p.Phe3166=) c.8994T= (p.Phe2998=) c.8925T= (p.Phe2975=) c.3711T= (p.Phe1237=) c.9561T= (p.Phe3187=) c.9441T= (p.Phe3147=) c.9372T= (p.Phe3124=) c.7776T= (p.Phe2592=) n.9912T= | |
6 | g.51747980A>C | CA364420646 | PKHD1 | c.9636T>G (p.Phe3212Leu) c.9507T>G (p.Phe3169Leu) c.9498T>G (p.Phe3166Leu) c.8994T>G (p.Phe2998Leu) c.8925T>G (p.Phe2975Leu) c.3711T>G (p.Phe1237Leu) c.9561T>G (p.Phe3187Leu) c.9441T>G (p.Phe3147Leu) c.9372T>G (p.Phe3124Leu) c.7776T>G (p.Phe2592Leu) n.9912T>G | dbSNP |
6 | g.51747980A>G | CA450613653 | PKHD1 | c.9636T>C (p.Phe3212=) c.9507T>C (p.Phe3169=) c.9498T>C (p.Phe3166=) c.8994T>C (p.Phe2998=) c.8925T>C (p.Phe2975=) c.3711T>C (p.Phe1237=) c.9561T>C (p.Phe3187=) c.9441T>C (p.Phe3147=) c.9372T>C (p.Phe3124=) c.7776T>C (p.Phe2592=) n.9912T>C | ClinVar dbSNP |
6 | g.51747980A>T | CA364420647 | PKHD1 | c.9636T>A (p.Phe3212Leu) c.9507T>A (p.Phe3169Leu) c.9498T>A (p.Phe3166Leu) c.8994T>A (p.Phe2998Leu) c.8925T>A (p.Phe2975Leu) c.3711T>A (p.Phe1237Leu) c.9561T>A (p.Phe3187Leu) c.9441T>A (p.Phe3147Leu) c.9372T>A (p.Phe3124Leu) c.7776T>A (p.Phe2592Leu) n.9912T>A | |
6 | g.51747981A>C | CA364420648 | PKHD1 | c.9635T>G (p.Phe3212Cys) c.9506T>G (p.Phe3169Cys) c.9497T>G (p.Phe3166Cys) c.8993T>G (p.Phe2998Cys) c.8924T>G (p.Phe2975Cys) c.3710T>G (p.Phe1237Cys) c.9560T>G (p.Phe3187Cys) c.9440T>G (p.Phe3147Cys) c.9371T>G (p.Phe3124Cys) c.7775T>G (p.Phe2592Cys) n.9911T>G | |
6 | g.51747981A>G | CA364420649 | PKHD1 | c.9635T>C (p.Phe3212Ser) c.9506T>C (p.Phe3169Ser) c.9497T>C (p.Phe3166Ser) c.8993T>C (p.Phe2998Ser) c.8924T>C (p.Phe2975Ser) c.3710T>C (p.Phe1237Ser) c.9560T>C (p.Phe3187Ser) c.9440T>C (p.Phe3147Ser) c.9371T>C (p.Phe3124Ser) c.7775T>C (p.Phe2592Ser) n.9911T>C | gnomAD v4 COSMIC COSMIC |
6 | g.51747981A>T | CA364420650 | PKHD1 | c.9635T>A (p.Phe3212Tyr) c.9506T>A (p.Phe3169Tyr) c.9497T>A (p.Phe3166Tyr) c.8993T>A (p.Phe2998Tyr) c.8924T>A (p.Phe2975Tyr) c.3710T>A (p.Phe1237Tyr) c.9560T>A (p.Phe3187Tyr) c.9440T>A (p.Phe3147Tyr) c.9371T>A (p.Phe3124Tyr) c.7775T>A (p.Phe2592Tyr) n.9911T>A | |
6 | g.51747981_51747984delinsAAAG | CA1628502240 | PKHD1 | c.9632_9635delinsCTTT (p.Ser3211=) c.9503_9506delinsCTTT (p.Ser3168=) c.9494_9497delinsCTTT (p.Ser3165=) c.8990_8993delinsCTTT (p.Ser2997=) c.8921_8924delinsCTTT (p.Ser2974=) c.3707_3710delinsCTTT (p.Ser1236=) c.9557_9560delinsCTTT (p.Ser3186=) c.9437_9440delinsCTTT (p.Ser3146=) c.9368_9371delinsCTTT (p.Ser3123=) c.7772_7775delinsCTTT (p.Ser2591=) n.9908_9911delinsCTTT | |
6 | g.51747982A>C | CA364420653 | PKHD1 | c.9634T>G (p.Phe3212Val) c.9505T>G (p.Phe3169Val) c.9496T>G (p.Phe3166Val) c.8992T>G (p.Phe2998Val) c.8923T>G (p.Phe2975Val) c.3709T>G (p.Phe1237Val) c.9559T>G (p.Phe3187Val) c.9439T>G (p.Phe3147Val) c.9370T>G (p.Phe3124Val) c.7774T>G (p.Phe2592Val) n.9910T>G | |
6 | g.51747982A>G | CA364420652 | PKHD1 | c.9634T>C (p.Phe3212Leu) c.9505T>C (p.Phe3169Leu) c.9496T>C (p.Phe3166Leu) c.8992T>C (p.Phe2998Leu) c.8923T>C (p.Phe2975Leu) c.3709T>C (p.Phe1237Leu) c.9559T>C (p.Phe3187Leu) c.9439T>C (p.Phe3147Leu) c.9370T>C (p.Phe3124Leu) c.7774T>C (p.Phe2592Leu) n.9910T>C | |
6 | g.51747982A>T | CA364420651 | PKHD1 | c.9634T>A (p.Phe3212Ile) c.9505T>A (p.Phe3169Ile) c.9496T>A (p.Phe3166Ile) c.8992T>A (p.Phe2998Ile) c.8923T>A (p.Phe2975Ile) c.3709T>A (p.Phe1237Ile) c.9559T>A (p.Phe3187Ile) c.9439T>A (p.Phe3147Ile) c.9370T>A (p.Phe3124Ile) c.7774T>A (p.Phe2592Ile) n.9910T>A | |
6 | g.51747986_51747988del | CA1088960994 | PKHD1 | c.9632_9634del (p.Ser3211del) c.9503_9505del (p.Ser3168del) c.9494_9496del (p.Ser3165del) c.8990_8992del (p.Ser2997del) c.8921_8923del (p.Ser2974del) c.3707_3709del (p.Ser1236del) c.9557_9559del (p.Ser3186del) c.9437_9439del (p.Ser3146del) c.9368_9370del (p.Ser3123del) c.7772_7774del (p.Ser2591del) n.9908_9910del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51747983A>C | CA450613654 | PKHD1 | c.9633T>G (p.Ser3211=) c.9504T>G (p.Ser3168=) c.9495T>G (p.Ser3165=) c.8991T>G (p.Ser2997=) c.8922T>G (p.Ser2974=) c.3708T>G (p.Ser1236=) c.9558T>G (p.Ser3186=) c.9438T>G (p.Ser3146=) c.9369T>G (p.Ser3123=) c.7773T>G (p.Ser2591=) n.9909T>G | |
6 | g.51747983A>G | CA450613655 | PKHD1 | c.9633T>C (p.Ser3211=) c.9504T>C (p.Ser3168=) c.9495T>C (p.Ser3165=) c.8991T>C (p.Ser2997=) c.8922T>C (p.Ser2974=) c.3708T>C (p.Ser1236=) c.9558T>C (p.Ser3186=) c.9438T>C (p.Ser3146=) c.9369T>C (p.Ser3123=) c.7773T>C (p.Ser2591=) n.9909T>C | ClinVar dbSNP |
6 | g.51747983A>T | CA450613656 | PKHD1 | c.9633T>A (p.Ser3211=) c.9504T>A (p.Ser3168=) c.9495T>A (p.Ser3165=) c.8991T>A (p.Ser2997=) c.8922T>A (p.Ser2974=) c.3708T>A (p.Ser1236=) c.9558T>A (p.Ser3186=) c.9438T>A (p.Ser3146=) c.9369T>A (p.Ser3123=) c.7773T>A (p.Ser2591=) n.9909T>A | |
6 | g.51747984G>A | CA364420654 | PKHD1 | c.9632C>T (p.Ser3211Phe) c.9503C>T (p.Ser3168Phe) c.9494C>T (p.Ser3165Phe) c.8990C>T (p.Ser2997Phe) c.8921C>T (p.Ser2974Phe) c.3707C>T (p.Ser1236Phe) c.9557C>T (p.Ser3186Phe) c.9437C>T (p.Ser3146Phe) c.9368C>T (p.Ser3123Phe) c.7772C>T (p.Ser2591Phe) n.9908C>T | |
6 | g.51747984G>C | CA364420655 | PKHD1 | c.9632C>G (p.Ser3211Cys) c.9503C>G (p.Ser3168Cys) c.9494C>G (p.Ser3165Cys) c.8990C>G (p.Ser2997Cys) c.8921C>G (p.Ser2974Cys) c.3707C>G (p.Ser1236Cys) c.9557C>G (p.Ser3186Cys) c.9437C>G (p.Ser3146Cys) c.9368C>G (p.Ser3123Cys) c.7772C>G (p.Ser2591Cys) n.9908C>G | |
6 | g.51747984G>T | CA364420656 | PKHD1 | c.9632C>A (p.Ser3211Tyr) c.9503C>A (p.Ser3168Tyr) c.9494C>A (p.Ser3165Tyr) c.8990C>A (p.Ser2997Tyr) c.8921C>A (p.Ser2974Tyr) c.3707C>A (p.Ser1236Tyr) c.9557C>A (p.Ser3186Tyr) c.9437C>A (p.Ser3146Tyr) c.9368C>A (p.Ser3123Tyr) c.7772C>A (p.Ser2591Tyr) n.9908C>A | |
6 | g.51747985A>C | CA364420657 | PKHD1 | c.9631T>G (p.Ser3211Ala) c.9502T>G (p.Ser3168Ala) c.9493T>G (p.Ser3165Ala) c.8989T>G (p.Ser2997Ala) c.8920T>G (p.Ser2974Ala) c.3706T>G (p.Ser1236Ala) c.9556T>G (p.Ser3186Ala) c.9436T>G (p.Ser3146Ala) c.9367T>G (p.Ser3123Ala) c.7771T>G (p.Ser2591Ala) n.9907T>G | |
6 | g.51747985A>G | CA364420658 | PKHD1 | c.9631T>C (p.Ser3211Pro) c.9502T>C (p.Ser3168Pro) c.9493T>C (p.Ser3165Pro) c.8989T>C (p.Ser2997Pro) c.8920T>C (p.Ser2974Pro) c.3706T>C (p.Ser1236Pro) c.9556T>C (p.Ser3186Pro) c.9436T>C (p.Ser3146Pro) c.9367T>C (p.Ser3123Pro) c.7771T>C (p.Ser2591Pro) n.9907T>C | |
6 | g.51747985A>T | CA364420659 | PKHD1 | c.9631T>A (p.Ser3211Thr) c.9502T>A (p.Ser3168Thr) c.9493T>A (p.Ser3165Thr) c.8989T>A (p.Ser2997Thr) c.8920T>A (p.Ser2974Thr) c.3706T>A (p.Ser1236Thr) c.9556T>A (p.Ser3186Thr) c.9436T>A (p.Ser3146Thr) c.9367T>A (p.Ser3123Thr) c.7771T>A (p.Ser2591Thr) n.9907T>A | |
6 | g.51747986A>C | CA450613657 | PKHD1 | c.9630T>G (p.Ser3210=) c.9501T>G (p.Ser3167=) c.9492T>G (p.Ser3164=) c.8988T>G (p.Ser2996=) c.8919T>G (p.Ser2973=) c.3705T>G (p.Ser1235=) c.9555T>G (p.Ser3185=) c.9435T>G (p.Ser3145=) c.9366T>G (p.Ser3122=) c.7770T>G (p.Ser2590=) n.9906T>G | gnomAD v4 |
6 | g.51747986A>G | CA450613658 | PKHD1 | c.9630T>C (p.Ser3210=) c.9501T>C (p.Ser3167=) c.9492T>C (p.Ser3164=) c.8988T>C (p.Ser2996=) c.8919T>C (p.Ser2973=) c.3705T>C (p.Ser1235=) c.9555T>C (p.Ser3185=) c.9435T>C (p.Ser3145=) c.9366T>C (p.Ser3122=) c.7770T>C (p.Ser2590=) n.9906T>C | gnomAD v4 |
6 | g.51747986A>T | CA450613659 | PKHD1 | c.9630T>A (p.Ser3210=) c.9501T>A (p.Ser3167=) c.9492T>A (p.Ser3164=) c.8988T>A (p.Ser2996=) c.8919T>A (p.Ser2973=) c.3705T>A (p.Ser1235=) c.9555T>A (p.Ser3185=) c.9435T>A (p.Ser3145=) c.9366T>A (p.Ser3122=) c.7770T>A (p.Ser2590=) n.9906T>A | |
6 | g.51747987G>A | CA364420660 | PKHD1 | c.9629C>T (p.Ser3210Phe) c.9500C>T (p.Ser3167Phe) c.9491C>T (p.Ser3164Phe) c.8987C>T (p.Ser2996Phe) c.8918C>T (p.Ser2973Phe) c.3704C>T (p.Ser1235Phe) c.9554C>T (p.Ser3185Phe) c.9434C>T (p.Ser3145Phe) c.9365C>T (p.Ser3122Phe) c.7769C>T (p.Ser2590Phe) n.9905C>T | COSMIC COSMIC |
6 | g.51747987G>C | CA3851361 | PKHD1 | c.9629C>G (p.Ser3210Cys) c.9500C>G (p.Ser3167Cys) c.9491C>G (p.Ser3164Cys) c.8987C>G (p.Ser2996Cys) c.8918C>G (p.Ser2973Cys) c.3704C>G (p.Ser1235Cys) c.9554C>G (p.Ser3185Cys) c.9434C>G (p.Ser3145Cys) c.9365C>G (p.Ser3122Cys) c.7769C>G (p.Ser2590Cys) n.9905C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51747987G= | CA1628502250 | PKHD1 | c.9629C= (p.Ser3210=) c.9500C= (p.Ser3167=) c.9491C= (p.Ser3164=) c.8987C= (p.Ser2996=) c.8918C= (p.Ser2973=) c.3704C= (p.Ser1235=) c.9554C= (p.Ser3185=) c.9434C= (p.Ser3145=) c.9365C= (p.Ser3122=) c.7769C= (p.Ser2590=) n.9905C= | |
6 | g.51747987G>T | CA3851362 | PKHD1 | c.9629C>A (p.Ser3210Tyr) c.9500C>A (p.Ser3167Tyr) c.9491C>A (p.Ser3164Tyr) c.8987C>A (p.Ser2996Tyr) c.8918C>A (p.Ser2973Tyr) c.3704C>A (p.Ser1235Tyr) c.9554C>A (p.Ser3185Tyr) c.9434C>A (p.Ser3145Tyr) c.9365C>A (p.Ser3122Tyr) c.7769C>A (p.Ser2590Tyr) n.9905C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51747988A= | CA1628502255 | PKHD1 | c.9628T= (p.Ser3210=) c.9499T= (p.Ser3167=) c.9490T= (p.Ser3164=) c.8986T= (p.Ser2996=) c.8917T= (p.Ser2973=) c.3703T= (p.Ser1235=) c.9553T= (p.Ser3185=) c.9433T= (p.Ser3145=) c.9364T= (p.Ser3122=) c.7768T= (p.Ser2590=) n.9904T= | |
6 | g.51747988A>C | CA364420661 | PKHD1 | c.9628T>G (p.Ser3210Ala) c.9499T>G (p.Ser3167Ala) c.9490T>G (p.Ser3164Ala) c.8986T>G (p.Ser2996Ala) c.8917T>G (p.Ser2973Ala) c.3703T>G (p.Ser1235Ala) c.9553T>G (p.Ser3185Ala) c.9433T>G (p.Ser3145Ala) c.9364T>G (p.Ser3122Ala) c.7768T>G (p.Ser2590Ala) n.9904T>G | dbSNP |
6 | g.51747988A>G | CA364420662 | PKHD1 | c.9628T>C (p.Ser3210Pro) c.9499T>C (p.Ser3167Pro) c.9490T>C (p.Ser3164Pro) c.8986T>C (p.Ser2996Pro) c.8917T>C (p.Ser2973Pro) c.3703T>C (p.Ser1235Pro) c.9553T>C (p.Ser3185Pro) c.9433T>C (p.Ser3145Pro) c.9364T>C (p.Ser3122Pro) c.7768T>C (p.Ser2590Pro) n.9904T>C | |
6 | g.51747988A>T | CA364420663 | PKHD1 | c.9628T>A (p.Ser3210Thr) c.9499T>A (p.Ser3167Thr) c.9490T>A (p.Ser3164Thr) c.8986T>A (p.Ser2996Thr) c.8917T>A (p.Ser2973Thr) c.3703T>A (p.Ser1235Thr) c.9553T>A (p.Ser3185Thr) c.9433T>A (p.Ser3145Thr) c.9364T>A (p.Ser3122Thr) c.7768T>A (p.Ser2590Thr) n.9904T>A | gnomAD v4 |
6 | g.51747989G>A | CA450613661 | PKHD1 | c.9627C>T (p.Ser3209=) c.9498C>T (p.Ser3166=) c.9489C>T (p.Ser3163=) c.8985C>T (p.Ser2995=) c.8916C>T (p.Ser2972=) c.3702C>T (p.Ser1234=) c.9552C>T (p.Ser3184=) c.9432C>T (p.Ser3144=) c.9363C>T (p.Ser3121=) c.7767C>T (p.Ser2589=) n.9903C>T | |
6 | g.51747989G>C | CA364420664 | PKHD1 | c.9627C>G (p.Ser3209Arg) c.9498C>G (p.Ser3166Arg) c.9489C>G (p.Ser3163Arg) c.8985C>G (p.Ser2995Arg) c.8916C>G (p.Ser2972Arg) c.3702C>G (p.Ser1234Arg) c.9552C>G (p.Ser3184Arg) c.9432C>G (p.Ser3144Arg) c.9363C>G (p.Ser3121Arg) c.7767C>G (p.Ser2589Arg) n.9903C>G | ClinVar gnomAD v4 |
6 | g.51747989G>T | CA364420665 | PKHD1 | c.9627C>A (p.Ser3209Arg) c.9498C>A (p.Ser3166Arg) c.9489C>A (p.Ser3163Arg) c.8985C>A (p.Ser2995Arg) c.8916C>A (p.Ser2972Arg) c.3702C>A (p.Ser1234Arg) c.9552C>A (p.Ser3184Arg) c.9432C>A (p.Ser3144Arg) c.9363C>A (p.Ser3121Arg) c.7767C>A (p.Ser2589Arg) n.9903C>A | |
6 | g.51747990C>A | CA364420668 | PKHD1 | c.9626G>T (p.Ser3209Ile) c.9497G>T (p.Ser3166Ile) c.9488G>T (p.Ser3163Ile) c.8984G>T (p.Ser2995Ile) c.8915G>T (p.Ser2972Ile) c.3701G>T (p.Ser1234Ile) c.9551G>T (p.Ser3184Ile) c.9431G>T (p.Ser3144Ile) c.9362G>T (p.Ser3121Ile) c.7766G>T (p.Ser2589Ile) n.9902G>T | |
6 | g.51747990C>G | CA364420667 | PKHD1 | c.9626G>C (p.Ser3209Thr) c.9497G>C (p.Ser3166Thr) c.9488G>C (p.Ser3163Thr) c.8984G>C (p.Ser2995Thr) c.8915G>C (p.Ser2972Thr) c.3701G>C (p.Ser1234Thr) c.9551G>C (p.Ser3184Thr) c.9431G>C (p.Ser3144Thr) c.9362G>C (p.Ser3121Thr) c.7766G>C (p.Ser2589Thr) n.9902G>C | |
6 | g.51747990C>T | CA364420666 | PKHD1 | c.9626G>A (p.Ser3209Asn) c.9497G>A (p.Ser3166Asn) c.9488G>A (p.Ser3163Asn) c.8984G>A (p.Ser2995Asn) c.8915G>A (p.Ser2972Asn) c.3701G>A (p.Ser1234Asn) c.9551G>A (p.Ser3184Asn) c.9431G>A (p.Ser3144Asn) c.9362G>A (p.Ser3121Asn) c.7766G>A (p.Ser2589Asn) n.9902G>A | |
6 | g.51747991T>A | CA364420669 | PKHD1 | c.9625A>T (p.Ser3209Cys) c.9496A>T (p.Ser3166Cys) c.9487A>T (p.Ser3163Cys) c.8983A>T (p.Ser2995Cys) c.8914A>T (p.Ser2972Cys) c.3700A>T (p.Ser1234Cys) c.9550A>T (p.Ser3184Cys) c.9430A>T (p.Ser3144Cys) c.9361A>T (p.Ser3121Cys) c.7765A>T (p.Ser2589Cys) n.9901A>T | |
6 | g.51747991T>C | CA364420671 | PKHD1 | c.9625A>G (p.Ser3209Gly) c.9496A>G (p.Ser3166Gly) c.9487A>G (p.Ser3163Gly) c.8983A>G (p.Ser2995Gly) c.8914A>G (p.Ser2972Gly) c.3700A>G (p.Ser1234Gly) c.9550A>G (p.Ser3184Gly) c.9430A>G (p.Ser3144Gly) c.9361A>G (p.Ser3121Gly) c.7765A>G (p.Ser2589Gly) n.9901A>G | |
6 | g.51747991T>G | CA364420670 | PKHD1 | c.9625A>C (p.Ser3209Arg) c.9496A>C (p.Ser3166Arg) c.9487A>C (p.Ser3163Arg) c.8983A>C (p.Ser2995Arg) c.8914A>C (p.Ser2972Arg) c.3700A>C (p.Ser1234Arg) c.9550A>C (p.Ser3184Arg) c.9430A>C (p.Ser3144Arg) c.9361A>C (p.Ser3121Arg) c.7765A>C (p.Ser2589Arg) n.9901A>C | ClinVar dbSNP |
6 | g.51747991T= | CA1628502258 | PKHD1 | c.9625A= (p.Ser3209=) c.9496A= (p.Ser3166=) c.9487A= (p.Ser3163=) c.8983A= (p.Ser2995=) c.8914A= (p.Ser2972=) c.3700A= (p.Ser1234=) c.9550A= (p.Ser3184=) c.9430A= (p.Ser3144=) c.9361A= (p.Ser3121=) c.7765A= (p.Ser2589=) n.9901A= | |
6 | g.51747992G>A | CA450613662 | PKHD1 | c.9624C>T (p.Thr3208=) c.9495C>T (p.Thr3165=) c.9486C>T (p.Thr3162=) c.8982C>T (p.Thr2994=) c.8913C>T (p.Thr2971=) c.3699C>T (p.Thr1233=) c.9549C>T (p.Thr3183=) c.9429C>T (p.Thr3143=) c.9360C>T (p.Thr3120=) c.7764C>T (p.Thr2588=) n.9900C>T | |
6 | g.51747992G>C | CA450613663 | PKHD1 | c.9624C>G (p.Thr3208=) c.9495C>G (p.Thr3165=) c.9486C>G (p.Thr3162=) c.8982C>G (p.Thr2994=) c.8913C>G (p.Thr2971=) c.3699C>G (p.Thr1233=) c.9549C>G (p.Thr3183=) c.9429C>G (p.Thr3143=) c.9360C>G (p.Thr3120=) c.7764C>G (p.Thr2588=) n.9900C>G | |
6 | g.51747992G>T | CA450613664 | PKHD1 | c.9624C>A (p.Thr3208=) c.9495C>A (p.Thr3165=) c.9486C>A (p.Thr3162=) c.8982C>A (p.Thr2994=) c.8913C>A (p.Thr2971=) c.3699C>A (p.Thr1233=) c.9549C>A (p.Thr3183=) c.9429C>A (p.Thr3143=) c.9360C>A (p.Thr3120=) c.7764C>A (p.Thr2588=) n.9900C>A | gnomAD v4 |
6 | g.51747993G>A | CA364420672 | PKHD1 | c.9623C>T (p.Thr3208Ile) c.9494C>T (p.Thr3165Ile) c.9485C>T (p.Thr3162Ile) c.8981C>T (p.Thr2994Ile) c.8912C>T (p.Thr2971Ile) c.3698C>T (p.Thr1233Ile) c.9548C>T (p.Thr3183Ile) c.9428C>T (p.Thr3143Ile) c.9359C>T (p.Thr3120Ile) c.7763C>T (p.Thr2588Ile) n.9899C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.51747993G>C | CA364420673 | PKHD1 | c.9623C>G (p.Thr3208Ser) c.9494C>G (p.Thr3165Ser) c.9485C>G (p.Thr3162Ser) c.8981C>G (p.Thr2994Ser) c.8912C>G (p.Thr2971Ser) c.3698C>G (p.Thr1233Ser) c.9548C>G (p.Thr3183Ser) c.9428C>G (p.Thr3143Ser) c.9359C>G (p.Thr3120Ser) c.7763C>G (p.Thr2588Ser) n.9899C>G | |
6 | g.51747993G= | CA1628502264 | PKHD1 | c.9623C= (p.Thr3208=) c.9494C= (p.Thr3165=) c.9485C= (p.Thr3162=) c.8981C= (p.Thr2994=) c.8912C= (p.Thr2971=) c.3698C= (p.Thr1233=) c.9548C= (p.Thr3183=) c.9428C= (p.Thr3143=) c.9359C= (p.Thr3120=) c.7763C= (p.Thr2588=) n.9899C= | |
6 | g.51747993G>T | CA364420674 | PKHD1 | c.9623C>A (p.Thr3208Asn) c.9494C>A (p.Thr3165Asn) c.9485C>A (p.Thr3162Asn) c.8981C>A (p.Thr2994Asn) c.8912C>A (p.Thr2971Asn) c.3698C>A (p.Thr1233Asn) c.9548C>A (p.Thr3183Asn) c.9428C>A (p.Thr3143Asn) c.9359C>A (p.Thr3120Asn) c.7763C>A (p.Thr2588Asn) n.9899C>A | |
6 | g.51747994T>A | CA364420675 | PKHD1 | c.9622A>T (p.Thr3208Ser) c.9493A>T (p.Thr3165Ser) c.9484A>T (p.Thr3162Ser) c.8980A>T (p.Thr2994Ser) c.8911A>T (p.Thr2971Ser) c.3697A>T (p.Thr1233Ser) c.9547A>T (p.Thr3183Ser) c.9427A>T (p.Thr3143Ser) c.9358A>T (p.Thr3120Ser) c.7762A>T (p.Thr2588Ser) n.9898A>T | |
6 | g.51747994T>C | CA364420676 | PKHD1 | c.9622A>G (p.Thr3208Ala) c.9493A>G (p.Thr3165Ala) c.9484A>G (p.Thr3162Ala) c.8980A>G (p.Thr2994Ala) c.8911A>G (p.Thr2971Ala) c.3697A>G (p.Thr1233Ala) c.9547A>G (p.Thr3183Ala) c.9427A>G (p.Thr3143Ala) c.9358A>G (p.Thr3120Ala) c.7762A>G (p.Thr2588Ala) n.9898A>G | |
6 | g.51747994T>G | CA364420677 | PKHD1 | c.9622A>C (p.Thr3208Pro) c.9493A>C (p.Thr3165Pro) c.9484A>C (p.Thr3162Pro) c.8980A>C (p.Thr2994Pro) c.8911A>C (p.Thr2971Pro) c.3697A>C (p.Thr1233Pro) c.9547A>C (p.Thr3183Pro) c.9427A>C (p.Thr3143Pro) c.9358A>C (p.Thr3120Pro) c.7762A>C (p.Thr2588Pro) n.9898A>C | |
6 | g.51747995G>A | CA450613668 | PKHD1 | c.9621C>T (p.Ala3207=) c.9492C>T (p.Ala3164=) c.9483C>T (p.Ala3161=) c.8979C>T (p.Ala2993=) c.8910C>T (p.Ala2970=) c.3696C>T (p.Ala1232=) c.9546C>T (p.Ala3182=) c.9426C>T (p.Ala3142=) c.9357C>T (p.Ala3119=) c.7761C>T (p.Ala2587=) n.9897C>T | ClinVar dbSNP |
6 | g.51747995G>C | CA450613669 | PKHD1 | c.9621C>G (p.Ala3207=) c.9492C>G (p.Ala3164=) c.9483C>G (p.Ala3161=) c.8979C>G (p.Ala2993=) c.8910C>G (p.Ala2970=) c.3696C>G (p.Ala1232=) c.9546C>G (p.Ala3182=) c.9426C>G (p.Ala3142=) c.9357C>G (p.Ala3119=) c.7761C>G (p.Ala2587=) n.9897C>G | |
6 | g.51747995G= | CA1628502269 | PKHD1 | c.9621C= (p.Ala3207=) c.9492C= (p.Ala3164=) c.9483C= (p.Ala3161=) c.8979C= (p.Ala2993=) c.8910C= (p.Ala2970=) c.3696C= (p.Ala1232=) c.9546C= (p.Ala3182=) c.9426C= (p.Ala3142=) c.9357C= (p.Ala3119=) c.7761C= (p.Ala2587=) n.9897C= | |
6 | g.51747995G>T | CA450613670 | PKHD1 | c.9621C>A (p.Ala3207=) c.9492C>A (p.Ala3164=) c.9483C>A (p.Ala3161=) c.8979C>A (p.Ala2993=) c.8910C>A (p.Ala2970=) c.3696C>A (p.Ala1232=) c.9546C>A (p.Ala3182=) c.9426C>A (p.Ala3142=) c.9357C>A (p.Ala3119=) c.7761C>A (p.Ala2587=) n.9897C>A | |
6 | g.51747996G>A | CA364420678 | PKHD1 | c.9620C>T (p.Ala3207Val) c.9491C>T (p.Ala3164Val) c.9482C>T (p.Ala3161Val) c.8978C>T (p.Ala2993Val) c.8909C>T (p.Ala2970Val) c.3695C>T (p.Ala1232Val) c.9545C>T (p.Ala3182Val) c.9425C>T (p.Ala3142Val) c.9356C>T (p.Ala3119Val) c.7760C>T (p.Ala2587Val) n.9896C>T | |
6 | g.51747996G>C | CA364420679 | PKHD1 | c.9620C>G (p.Ala3207Gly) c.9491C>G (p.Ala3164Gly) c.9482C>G (p.Ala3161Gly) c.8978C>G (p.Ala2993Gly) c.8909C>G (p.Ala2970Gly) c.3695C>G (p.Ala1232Gly) c.9545C>G (p.Ala3182Gly) c.9425C>G (p.Ala3142Gly) c.9356C>G (p.Ala3119Gly) c.7760C>G (p.Ala2587Gly) n.9896C>G | |
6 | g.51747996G>T | CA364420680 | PKHD1 | c.9620C>A (p.Ala3207Asp) c.9491C>A (p.Ala3164Asp) c.9482C>A (p.Ala3161Asp) c.8978C>A (p.Ala2993Asp) c.8909C>A (p.Ala2970Asp) c.3695C>A (p.Ala1232Asp) c.9545C>A (p.Ala3182Asp) c.9425C>A (p.Ala3142Asp) c.9356C>A (p.Ala3119Asp) c.7760C>A (p.Ala2587Asp) n.9896C>A | |
6 | g.51747997C>A | CA364420681 | PKHD1 | c.9619G>T (p.Ala3207Ser) c.9490G>T (p.Ala3164Ser) c.9481G>T (p.Ala3161Ser) c.8977G>T (p.Ala2993Ser) c.8908G>T (p.Ala2970Ser) c.3694G>T (p.Ala1232Ser) c.9544G>T (p.Ala3182Ser) c.9424G>T (p.Ala3142Ser) c.9355G>T (p.Ala3119Ser) c.7759G>T (p.Ala2587Ser) n.9895G>T | gnomAD v4 |
6 | g.51747997C= | CA1628502276 | PKHD1 | c.9619G= (p.Ala3207=) c.9490G= (p.Ala3164=) c.9481G= (p.Ala3161=) c.8977G= (p.Ala2993=) c.8908G= (p.Ala2970=) c.3694G= (p.Ala1232=) c.9544G= (p.Ala3182=) c.9424G= (p.Ala3142=) c.9355G= (p.Ala3119=) c.7759G= (p.Ala2587=) n.9895G= | |
6 | g.51747997C>G | CA364420682 | PKHD1 | c.9619G>C (p.Ala3207Pro) c.9490G>C (p.Ala3164Pro) c.9481G>C (p.Ala3161Pro) c.8977G>C (p.Ala2993Pro) c.8908G>C (p.Ala2970Pro) c.3694G>C (p.Ala1232Pro) c.9544G>C (p.Ala3182Pro) c.9424G>C (p.Ala3142Pro) c.9355G>C (p.Ala3119Pro) c.7759G>C (p.Ala2587Pro) n.9895G>C | |
6 | g.51747997C>T | CA364420683 | PKHD1 | c.9619G>A (p.Ala3207Thr) c.9490G>A (p.Ala3164Thr) c.9481G>A (p.Ala3161Thr) c.8977G>A (p.Ala2993Thr) c.8908G>A (p.Ala2970Thr) c.3694G>A (p.Ala1232Thr) c.9544G>A (p.Ala3182Thr) c.9424G>A (p.Ala3142Thr) c.9355G>A (p.Ala3119Thr) c.7759G>A (p.Ala2587Thr) n.9895G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51747998C>A | CA138896000 | PKHD1 | c.9618G>T (p.Val3206=) c.9489G>T (p.Val3163=) c.9480G>T (p.Val3160=) c.8976G>T (p.Val2992=) c.8907G>T (p.Val2969=) c.3693G>T (p.Val1231=) c.9543G>T (p.Val3181=) c.9423G>T (p.Val3141=) c.9354G>T (p.Val3118=) c.7758G>T (p.Val2586=) n.9894G>T | dbSNP |
6 | g.51747998C= | CA1628502279 | PKHD1 | c.9618G= (p.Val3206=) c.9489G= (p.Val3163=) c.9480G= (p.Val3160=) c.8976G= (p.Val2992=) c.8907G= (p.Val2969=) c.3693G= (p.Val1231=) c.9543G= (p.Val3181=) c.9423G= (p.Val3141=) c.9354G= (p.Val3118=) c.7758G= (p.Val2586=) n.9894G= | |
6 | g.51747998C>G | CA450613673 | PKHD1 | c.9618G>C (p.Val3206=) c.9489G>C (p.Val3163=) c.9480G>C (p.Val3160=) c.8976G>C (p.Val2992=) c.8907G>C (p.Val2969=) c.3693G>C (p.Val1231=) c.9543G>C (p.Val3181=) c.9423G>C (p.Val3141=) c.9354G>C (p.Val3118=) c.7758G>C (p.Val2586=) n.9894G>C | |
6 | g.51747998C>T | CA450613674 | PKHD1 | c.9618G>A (p.Val3206=) c.9489G>A (p.Val3163=) c.9480G>A (p.Val3160=) c.8976G>A (p.Val2992=) c.8907G>A (p.Val2969=) c.3693G>A (p.Val1231=) c.9543G>A (p.Val3181=) c.9423G>A (p.Val3141=) c.9354G>A (p.Val3118=) c.7758G>A (p.Val2586=) n.9894G>A | |
6 | g.51747999A>C | CA364420684 | PKHD1 | c.9617T>G (p.Val3206Gly) c.9488T>G (p.Val3163Gly) c.9479T>G (p.Val3160Gly) c.8975T>G (p.Val2992Gly) c.8906T>G (p.Val2969Gly) c.3692T>G (p.Val1231Gly) c.9542T>G (p.Val3181Gly) c.9422T>G (p.Val3141Gly) c.9353T>G (p.Val3118Gly) c.7757T>G (p.Val2586Gly) n.9893T>G | |
6 | g.51747999A>G | CA364420685 | PKHD1 | c.9617T>C (p.Val3206Ala) c.9488T>C (p.Val3163Ala) c.9479T>C (p.Val3160Ala) c.8975T>C (p.Val2992Ala) c.8906T>C (p.Val2969Ala) c.3692T>C (p.Val1231Ala) c.9542T>C (p.Val3181Ala) c.9422T>C (p.Val3141Ala) c.9353T>C (p.Val3118Ala) c.7757T>C (p.Val2586Ala) n.9893T>C | |
6 | g.51747999A>T | CA364420686 | PKHD1 | c.9617T>A (p.Val3206Glu) c.9488T>A (p.Val3163Glu) c.9479T>A (p.Val3160Glu) c.8975T>A (p.Val2992Glu) c.8906T>A (p.Val2969Glu) c.3692T>A (p.Val1231Glu) c.9542T>A (p.Val3181Glu) c.9422T>A (p.Val3141Glu) c.9353T>A (p.Val3118Glu) c.7757T>A (p.Val2586Glu) n.9893T>A | |
6 | g.51748000C>A | CA3851363 | PKHD1 | c.9616G>T (p.Val3206Leu) c.9487G>T (p.Val3163Leu) c.9478G>T (p.Val3160Leu) c.8974G>T (p.Val2992Leu) c.8905G>T (p.Val2969Leu) c.3691G>T (p.Val1231Leu) c.9541G>T (p.Val3181Leu) c.9421G>T (p.Val3141Leu) c.9352G>T (p.Val3118Leu) c.7756G>T (p.Val2586Leu) n.9892G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748000C= | CA1628502284 | PKHD1 | c.9616G= (p.Val3206=) c.9487G= (p.Val3163=) c.9478G= (p.Val3160=) c.8974G= (p.Val2992=) c.8905G= (p.Val2969=) c.3691G= (p.Val1231=) c.9541G= (p.Val3181=) c.9421G= (p.Val3141=) c.9352G= (p.Val3118=) c.7756G= (p.Val2586=) n.9892G= | |
6 | g.51748000C>G | CA364420687 | PKHD1 | c.9616G>C (p.Val3206Leu) c.9487G>C (p.Val3163Leu) c.9478G>C (p.Val3160Leu) c.8974G>C (p.Val2992Leu) c.8905G>C (p.Val2969Leu) c.3691G>C (p.Val1231Leu) c.9541G>C (p.Val3181Leu) c.9421G>C (p.Val3141Leu) c.9352G>C (p.Val3118Leu) c.7756G>C (p.Val2586Leu) n.9892G>C | |
6 | g.51748000C>T | CA364420688 | PKHD1 | c.9616G>A (p.Val3206Met) c.9487G>A (p.Val3163Met) c.9478G>A (p.Val3160Met) c.8974G>A (p.Val2992Met) c.8905G>A (p.Val2969Met) c.3691G>A (p.Val1231Met) c.9541G>A (p.Val3181Met) c.9421G>A (p.Val3141Met) c.9352G>A (p.Val3118Met) c.7756G>A (p.Val2586Met) n.9892G>A | |
6 | g.51748001A>C | CA364420689 | PKHD1 | c.9615T>G (p.Ile3205Met) c.9486T>G (p.Ile3162Met) c.9477T>G (p.Ile3159Met) c.8973T>G (p.Ile2991Met) c.8904T>G (p.Ile2968Met) c.3690T>G (p.Ile1230Met) c.9540T>G (p.Ile3180Met) c.9420T>G (p.Ile3140Met) c.9351T>G (p.Ile3117Met) c.7755T>G (p.Ile2585Met) n.9891T>G | |
6 | g.51748001A>G | CA450613678 | PKHD1 | c.9615T>C (p.Ile3205=) c.9486T>C (p.Ile3162=) c.9477T>C (p.Ile3159=) c.8973T>C (p.Ile2991=) c.8904T>C (p.Ile2968=) c.3690T>C (p.Ile1230=) c.9540T>C (p.Ile3180=) c.9420T>C (p.Ile3140=) c.9351T>C (p.Ile3117=) c.7755T>C (p.Ile2585=) n.9891T>C | |
6 | g.51748001A>T | CA450613679 | PKHD1 | c.9615T>A (p.Ile3205=) c.9486T>A (p.Ile3162=) c.9477T>A (p.Ile3159=) c.8973T>A (p.Ile2991=) c.8904T>A (p.Ile2968=) c.3690T>A (p.Ile1230=) c.9540T>A (p.Ile3180=) c.9420T>A (p.Ile3140=) c.9351T>A (p.Ile3117=) c.7755T>A (p.Ile2585=) n.9891T>A | |
6 | g.51748002del | CA2580075426 | PKHD1 | c.9615del (p.Ile3205MetfsTer15) c.9486del (p.Ile3162MetfsTer15) c.9477del (p.Ile3159MetfsTer15) c.8973del (p.Ile2991MetfsTer15) c.8904del (p.Ile2968MetfsTer15) c.3690del (p.Ile1230MetfsTer15) c.9540del (p.Ile3180MetfsTer15) c.9420del (p.Ile3140MetfsTer15) c.9351del (p.Ile3117MetfsTer15) c.7755del (p.Ile2585MetfsTer15) n.9891del | ClinVar |
6 | g.51748002A= | CA1628502289 | PKHD1 | c.9614T= (p.Ile3205=) c.9485T= (p.Ile3162=) c.9476T= (p.Ile3159=) c.8972T= (p.Ile2991=) c.8903T= (p.Ile2968=) c.3689T= (p.Ile1230=) c.9539T= (p.Ile3180=) c.9419T= (p.Ile3140=) c.9350T= (p.Ile3117=) c.7754T= (p.Ile2585=) n.9890T= | |
6 | g.51748002A>C | CA3851364 | PKHD1 | c.9614T>G (p.Ile3205Ser) c.9485T>G (p.Ile3162Ser) c.9476T>G (p.Ile3159Ser) c.8972T>G (p.Ile2991Ser) c.8903T>G (p.Ile2968Ser) c.3689T>G (p.Ile1230Ser) c.9539T>G (p.Ile3180Ser) c.9419T>G (p.Ile3140Ser) c.9350T>G (p.Ile3117Ser) c.7754T>G (p.Ile2585Ser) n.9890T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748002A>G | CA364420690 | PKHD1 | c.9614T>C (p.Ile3205Thr) c.9485T>C (p.Ile3162Thr) c.9476T>C (p.Ile3159Thr) c.8972T>C (p.Ile2991Thr) c.8903T>C (p.Ile2968Thr) c.3689T>C (p.Ile1230Thr) c.9539T>C (p.Ile3180Thr) c.9419T>C (p.Ile3140Thr) c.9350T>C (p.Ile3117Thr) c.7754T>C (p.Ile2585Thr) n.9890T>C | ClinVar |
6 | g.51748002A>T | CA364420691 | PKHD1 | c.9614T>A (p.Ile3205Asn) c.9485T>A (p.Ile3162Asn) c.9476T>A (p.Ile3159Asn) c.8972T>A (p.Ile2991Asn) c.8903T>A (p.Ile2968Asn) c.3689T>A (p.Ile1230Asn) c.9539T>A (p.Ile3180Asn) c.9419T>A (p.Ile3140Asn) c.9350T>A (p.Ile3117Asn) c.7754T>A (p.Ile2585Asn) n.9890T>A | |
6 | g.51748003T>A | CA364420692 | PKHD1 | c.9613A>T (p.Ile3205Phe) c.9484A>T (p.Ile3162Phe) c.9475A>T (p.Ile3159Phe) c.8971A>T (p.Ile2991Phe) c.8902A>T (p.Ile2968Phe) c.3688A>T (p.Ile1230Phe) c.9538A>T (p.Ile3180Phe) c.9418A>T (p.Ile3140Phe) c.9349A>T (p.Ile3117Phe) c.7753A>T (p.Ile2585Phe) n.9889A>T | dbSNP |
6 | g.51748003T>C | CA3851365 | PKHD1 | c.9613A>G (p.Ile3205Val) c.9484A>G (p.Ile3162Val) c.9475A>G (p.Ile3159Val) c.8971A>G (p.Ile2991Val) c.8902A>G (p.Ile2968Val) c.3688A>G (p.Ile1230Val) c.9538A>G (p.Ile3180Val) c.9418A>G (p.Ile3140Val) c.9349A>G (p.Ile3117Val) c.7753A>G (p.Ile2585Val) n.9889A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748003T>G | CA364420693 | PKHD1 | c.9613A>C (p.Ile3205Leu) c.9484A>C (p.Ile3162Leu) c.9475A>C (p.Ile3159Leu) c.8971A>C (p.Ile2991Leu) c.8902A>C (p.Ile2968Leu) c.3688A>C (p.Ile1230Leu) c.9538A>C (p.Ile3180Leu) c.9418A>C (p.Ile3140Leu) c.9349A>C (p.Ile3117Leu) c.7753A>C (p.Ile2585Leu) n.9889A>C | ClinVar gnomAD v4 |
6 | g.51748003T= | CA1628502291 | PKHD1 | c.9613A= (p.Ile3205=) c.9484A= (p.Ile3162=) c.9475A= (p.Ile3159=) c.8971A= (p.Ile2991=) c.8902A= (p.Ile2968=) c.3688A= (p.Ile1230=) c.9538A= (p.Ile3180=) c.9418A= (p.Ile3140=) c.9349A= (p.Ile3117=) c.7753A= (p.Ile2585=) n.9889A= | |
6 | g.51748004G>A | CA450613681 | PKHD1 | c.9612C>T (p.Val3204=) c.9483C>T (p.Val3161=) c.9474C>T (p.Val3158=) c.8970C>T (p.Val2990=) c.8901C>T (p.Val2967=) c.3687C>T (p.Val1229=) c.9537C>T (p.Val3179=) c.9417C>T (p.Val3139=) c.9348C>T (p.Val3116=) c.7752C>T (p.Val2584=) n.9888C>T | |
6 | g.51748004G>C | CA450613683 | PKHD1 | c.9612C>G (p.Val3204=) c.9483C>G (p.Val3161=) c.9474C>G (p.Val3158=) c.8970C>G (p.Val2990=) c.8901C>G (p.Val2967=) c.3687C>G (p.Val1229=) c.9537C>G (p.Val3179=) c.9417C>G (p.Val3139=) c.9348C>G (p.Val3116=) c.7752C>G (p.Val2584=) n.9888C>G | |
6 | g.51748004G>T | CA450613682 | PKHD1 | c.9612C>A (p.Val3204=) c.9483C>A (p.Val3161=) c.9474C>A (p.Val3158=) c.8970C>A (p.Val2990=) c.8901C>A (p.Val2967=) c.3687C>A (p.Val1229=) c.9537C>A (p.Val3179=) c.9417C>A (p.Val3139=) c.9348C>A (p.Val3116=) c.7752C>A (p.Val2584=) n.9888C>A | gnomAD v4 |
6 | g.51748005A>C | CA364420696 | PKHD1 | c.9611T>G (p.Val3204Gly) c.9482T>G (p.Val3161Gly) c.9473T>G (p.Val3158Gly) c.8969T>G (p.Val2990Gly) c.8900T>G (p.Val2967Gly) c.3686T>G (p.Val1229Gly) c.9536T>G (p.Val3179Gly) c.9416T>G (p.Val3139Gly) c.9347T>G (p.Val3116Gly) c.7751T>G (p.Val2584Gly) n.9887T>G | |
6 | g.51748005A>G | CA364420694 | PKHD1 | c.9611T>C (p.Val3204Ala) c.9482T>C (p.Val3161Ala) c.9473T>C (p.Val3158Ala) c.8969T>C (p.Val2990Ala) c.8900T>C (p.Val2967Ala) c.3686T>C (p.Val1229Ala) c.9536T>C (p.Val3179Ala) c.9416T>C (p.Val3139Ala) c.9347T>C (p.Val3116Ala) c.7751T>C (p.Val2584Ala) n.9887T>C | |
6 | g.51748005A>T | CA364420695 | PKHD1 | c.9611T>A (p.Val3204Asp) c.9482T>A (p.Val3161Asp) c.9473T>A (p.Val3158Asp) c.8969T>A (p.Val2990Asp) c.8900T>A (p.Val2967Asp) c.3686T>A (p.Val1229Asp) c.9536T>A (p.Val3179Asp) c.9416T>A (p.Val3139Asp) c.9347T>A (p.Val3116Asp) c.7751T>A (p.Val2584Asp) n.9887T>A | |
6 | g.51748006C>A | CA364420697 | PKHD1 | c.9610G>T (p.Val3204Phe) c.9481G>T (p.Val3161Phe) c.9472G>T (p.Val3158Phe) c.8968G>T (p.Val2990Phe) c.8899G>T (p.Val2967Phe) c.3685G>T (p.Val1229Phe) c.9535G>T (p.Val3179Phe) c.9415G>T (p.Val3139Phe) c.9346G>T (p.Val3116Phe) c.7750G>T (p.Val2584Phe) n.9886G>T | |
6 | g.51748006C= | CA1628502294 | PKHD1 | c.9610G= (p.Val3204=) c.9481G= (p.Val3161=) c.9472G= (p.Val3158=) c.8968G= (p.Val2990=) c.8899G= (p.Val2967=) c.3685G= (p.Val1229=) c.9535G= (p.Val3179=) c.9415G= (p.Val3139=) c.9346G= (p.Val3116=) c.7750G= (p.Val2584=) n.9886G= | |
6 | g.51748006C>G | CA364420698 | PKHD1 | c.9610G>C (p.Val3204Leu) c.9481G>C (p.Val3161Leu) c.9472G>C (p.Val3158Leu) c.8968G>C (p.Val2990Leu) c.8899G>C (p.Val2967Leu) c.3685G>C (p.Val1229Leu) c.9535G>C (p.Val3179Leu) c.9415G>C (p.Val3139Leu) c.9346G>C (p.Val3116Leu) c.7750G>C (p.Val2584Leu) n.9886G>C | |
6 | g.51748006C>T | CA364420699 | PKHD1 | c.9610G>A (p.Val3204Ile) c.9481G>A (p.Val3161Ile) c.9472G>A (p.Val3158Ile) c.8968G>A (p.Val2990Ile) c.8899G>A (p.Val2967Ile) c.3685G>A (p.Val1229Ile) c.9535G>A (p.Val3179Ile) c.9415G>A (p.Val3139Ile) c.9346G>A (p.Val3116Ile) c.7750G>A (p.Val2584Ile) n.9886G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748007T>A | CA450613689 | PKHD1 | c.9609A>T (p.Ser3203=) c.9480A>T (p.Ser3160=) c.9471A>T (p.Ser3157=) c.8967A>T (p.Ser2989=) c.8898A>T (p.Ser2966=) c.3684A>T (p.Ser1228=) c.9534A>T (p.Ser3178=) c.9414A>T (p.Ser3138=) c.9345A>T (p.Ser3115=) c.7749A>T (p.Ser2583=) n.9885A>T | |
6 | g.51748007T>C | CA450613688 | PKHD1 | c.9609A>G (p.Ser3203=) c.9480A>G (p.Ser3160=) c.9471A>G (p.Ser3157=) c.8967A>G (p.Ser2989=) c.8898A>G (p.Ser2966=) c.3684A>G (p.Ser1228=) c.9534A>G (p.Ser3178=) c.9414A>G (p.Ser3138=) c.9345A>G (p.Ser3115=) c.7749A>G (p.Ser2583=) n.9885A>G | |
6 | g.51748007T>G | CA450613687 | PKHD1 | c.9609A>C (p.Ser3203=) c.9480A>C (p.Ser3160=) c.9471A>C (p.Ser3157=) c.8967A>C (p.Ser2989=) c.8898A>C (p.Ser2966=) c.3684A>C (p.Ser1228=) c.9534A>C (p.Ser3178=) c.9414A>C (p.Ser3138=) c.9345A>C (p.Ser3115=) c.7749A>C (p.Ser2583=) n.9885A>C | |
6 | g.51748008G>A | CA364420700 | PKHD1 | c.9608C>T (p.Ser3203Leu) c.9479C>T (p.Ser3160Leu) c.9470C>T (p.Ser3157Leu) c.8966C>T (p.Ser2989Leu) c.8897C>T (p.Ser2966Leu) c.3683C>T (p.Ser1228Leu) c.9533C>T (p.Ser3178Leu) c.9413C>T (p.Ser3138Leu) c.9344C>T (p.Ser3115Leu) c.7748C>T (p.Ser2583Leu) n.9884C>T | |
6 | g.51748008G>C | CA364420701 | PKHD1 | c.9608C>G (p.Ser3203Ter) c.9479C>G (p.Ser3160Ter) c.9470C>G (p.Ser3157Ter) c.8966C>G (p.Ser2989Ter) c.8897C>G (p.Ser2966Ter) c.3683C>G (p.Ser1228Ter) c.9533C>G (p.Ser3178Ter) c.9413C>G (p.Ser3138Ter) c.9344C>G (p.Ser3115Ter) c.7748C>G (p.Ser2583Ter) n.9884C>G | |
6 | g.51748008G>T | CA364420702 | PKHD1 | c.9608C>A (p.Ser3203Ter) c.9479C>A (p.Ser3160Ter) c.9470C>A (p.Ser3157Ter) c.8966C>A (p.Ser2989Ter) c.8897C>A (p.Ser2966Ter) c.3683C>A (p.Ser1228Ter) c.9533C>A (p.Ser3178Ter) c.9413C>A (p.Ser3138Ter) c.9344C>A (p.Ser3115Ter) c.7748C>A (p.Ser2583Ter) n.9884C>A | |
6 | g.51748009A>C | CA364420705 | PKHD1 | c.9607T>G (p.Ser3203Ala) c.9478T>G (p.Ser3160Ala) c.9469T>G (p.Ser3157Ala) c.8965T>G (p.Ser2989Ala) c.8896T>G (p.Ser2966Ala) c.3682T>G (p.Ser1228Ala) c.9532T>G (p.Ser3178Ala) c.9412T>G (p.Ser3138Ala) c.9343T>G (p.Ser3115Ala) c.7747T>G (p.Ser2583Ala) n.9883T>G | |
6 | g.51748009A>G | CA364420703 | PKHD1 | c.9607T>C (p.Ser3203Pro) c.9478T>C (p.Ser3160Pro) c.9469T>C (p.Ser3157Pro) c.8965T>C (p.Ser2989Pro) c.8896T>C (p.Ser2966Pro) c.3682T>C (p.Ser1228Pro) c.9532T>C (p.Ser3178Pro) c.9412T>C (p.Ser3138Pro) c.9343T>C (p.Ser3115Pro) c.7747T>C (p.Ser2583Pro) n.9883T>C | |
6 | g.51748009A>T | CA364420704 | PKHD1 | c.9607T>A (p.Ser3203Thr) c.9478T>A (p.Ser3160Thr) c.9469T>A (p.Ser3157Thr) c.8965T>A (p.Ser2989Thr) c.8896T>A (p.Ser2966Thr) c.3682T>A (p.Ser1228Thr) c.9532T>A (p.Ser3178Thr) c.9412T>A (p.Ser3138Thr) c.9343T>A (p.Ser3115Thr) c.7747T>A (p.Ser2583Thr) n.9883T>A | |
6 | g.51748010A= | CA1628502296 | PKHD1 | c.9606T= (p.Asn3202=) c.9477T= (p.Asn3159=) c.9468T= (p.Asn3156=) c.8964T= (p.Asn2988=) c.8895T= (p.Asn2965=) c.3681T= (p.Asn1227=) c.9531T= (p.Asn3177=) c.9411T= (p.Asn3137=) c.9342T= (p.Asn3114=) c.7746T= (p.Asn2582=) n.9882T= | |
6 | g.51748010A>C | CA364420706 | PKHD1 | c.9606T>G (p.Asn3202Lys) c.9477T>G (p.Asn3159Lys) c.9468T>G (p.Asn3156Lys) c.8964T>G (p.Asn2988Lys) c.8895T>G (p.Asn2965Lys) c.3681T>G (p.Asn1227Lys) c.9531T>G (p.Asn3177Lys) c.9411T>G (p.Asn3137Lys) c.9342T>G (p.Asn3114Lys) c.7746T>G (p.Asn2582Lys) n.9882T>G | |
6 | g.51748010A>G | CA450613691 | PKHD1 | c.9606T>C (p.Asn3202=) c.9477T>C (p.Asn3159=) c.9468T>C (p.Asn3156=) c.8964T>C (p.Asn2988=) c.8895T>C (p.Asn2965=) c.3681T>C (p.Asn1227=) c.9531T>C (p.Asn3177=) c.9411T>C (p.Asn3137=) c.9342T>C (p.Asn3114=) c.7746T>C (p.Asn2582=) n.9882T>C | dbSNP |
6 | g.51748010A>T | CA364420707 | PKHD1 | c.9606T>A (p.Asn3202Lys) c.9477T>A (p.Asn3159Lys) c.9468T>A (p.Asn3156Lys) c.8964T>A (p.Asn2988Lys) c.8895T>A (p.Asn2965Lys) c.3681T>A (p.Asn1227Lys) c.9531T>A (p.Asn3177Lys) c.9411T>A (p.Asn3137Lys) c.9342T>A (p.Asn3114Lys) c.7746T>A (p.Asn2582Lys) n.9882T>A | |
6 | g.51748010_51748011delinsAT | CA1628502297 | PKHD1 | c.9605_9606delinsAT (p.Asn3202=) c.9476_9477delinsAT (p.Asn3159=) c.9467_9468delinsAT (p.Asn3156=) c.8963_8964delinsAT (p.Asn2988=) c.8894_8895delinsAT (p.Asn2965=) c.3680_3681delinsAT (p.Asn1227=) c.9530_9531delinsAT (p.Asn3177=) c.9410_9411delinsAT (p.Asn3137=) c.9341_9342delinsAT (p.Asn3114=) c.7745_7746delinsAT (p.Asn2582=) n.9881_9882delinsAT | |
6 | g.51748011T>A | CA364420708 | PKHD1 | c.9605A>T (p.Asn3202Ile) c.9476A>T (p.Asn3159Ile) c.9467A>T (p.Asn3156Ile) c.8963A>T (p.Asn2988Ile) c.8894A>T (p.Asn2965Ile) c.3680A>T (p.Asn1227Ile) c.9530A>T (p.Asn3177Ile) c.9410A>T (p.Asn3137Ile) c.9341A>T (p.Asn3114Ile) c.7745A>T (p.Asn2582Ile) n.9881A>T | |
6 | g.51748011T>C | CA364420709 | PKHD1 | c.9605A>G (p.Asn3202Ser) c.9476A>G (p.Asn3159Ser) c.9467A>G (p.Asn3156Ser) c.8963A>G (p.Asn2988Ser) c.8894A>G (p.Asn2965Ser) c.3680A>G (p.Asn1227Ser) c.9530A>G (p.Asn3177Ser) c.9410A>G (p.Asn3137Ser) c.9341A>G (p.Asn3114Ser) c.7745A>G (p.Asn2582Ser) n.9881A>G | gnomAD v4 |
6 | g.51748011T>G | CA364420710 | PKHD1 | c.9605A>C (p.Asn3202Thr) c.9476A>C (p.Asn3159Thr) c.9467A>C (p.Asn3156Thr) c.8963A>C (p.Asn2988Thr) c.8894A>C (p.Asn2965Thr) c.3680A>C (p.Asn1227Thr) c.9530A>C (p.Asn3177Thr) c.9410A>C (p.Asn3137Thr) c.9341A>C (p.Asn3114Thr) c.7745A>C (p.Asn2582Thr) n.9881A>C | |
6 | g.51748012del | CA1628502300 | PKHD1 | c.9605del (p.Asn3202IlefsTer18) c.9476del (p.Asn3159IlefsTer18) c.9467del (p.Asn3156IlefsTer18) c.8963del (p.Asn2988IlefsTer18) c.8894del (p.Asn2965IlefsTer18) c.3680del (p.Asn1227IlefsTer18) c.9530del (p.Asn3177IlefsTer18) c.9410del (p.Asn3137IlefsTer18) c.9341del (p.Asn3114IlefsTer18) c.7745del (p.Asn2582IlefsTer18) n.9881del | dbSNP |
6 | g.51748012T>A | CA364420713 | PKHD1 | c.9604A>T (p.Asn3202Tyr) c.9475A>T (p.Asn3159Tyr) c.9466A>T (p.Asn3156Tyr) c.8962A>T (p.Asn2988Tyr) c.8893A>T (p.Asn2965Tyr) c.3679A>T (p.Asn1227Tyr) c.9529A>T (p.Asn3177Tyr) c.9409A>T (p.Asn3137Tyr) c.9340A>T (p.Asn3114Tyr) c.7744A>T (p.Asn2582Tyr) n.9880A>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748012T>C | CA364420711 | PKHD1 | c.9604A>G (p.Asn3202Asp) c.9475A>G (p.Asn3159Asp) c.9466A>G (p.Asn3156Asp) c.8962A>G (p.Asn2988Asp) c.8893A>G (p.Asn2965Asp) c.3679A>G (p.Asn1227Asp) c.9529A>G (p.Asn3177Asp) c.9409A>G (p.Asn3137Asp) c.9340A>G (p.Asn3114Asp) c.7744A>G (p.Asn2582Asp) n.9880A>G | |
6 | g.51748012T>G | CA364420712 | PKHD1 | c.9604A>C (p.Asn3202His) c.9475A>C (p.Asn3159His) c.9466A>C (p.Asn3156His) c.8962A>C (p.Asn2988His) c.8893A>C (p.Asn2965His) c.3679A>C (p.Asn1227His) c.9529A>C (p.Asn3177His) c.9409A>C (p.Asn3137His) c.9340A>C (p.Asn3114His) c.7744A>C (p.Asn2582His) n.9880A>C | gnomAD v4 |
6 | g.51748012T= | CA1628502303 | PKHD1 | c.9604A= (p.Asn3202=) c.9475A= (p.Asn3159=) c.9466A= (p.Asn3156=) c.8962A= (p.Asn2988=) c.8893A= (p.Asn2965=) c.3679A= (p.Asn1227=) c.9529A= (p.Asn3177=) c.9409A= (p.Asn3137=) c.9340A= (p.Asn3114=) c.7744A= (p.Asn2582=) n.9880A= | |
6 | g.51748013C>A | CA364420714 | PKHD1 | c.9603G>T (p.Arg3201Ser) c.9474G>T (p.Arg3158Ser) c.9465G>T (p.Arg3155Ser) c.8961G>T (p.Arg2987Ser) c.8892G>T (p.Arg2964Ser) c.3678G>T (p.Arg1226Ser) c.9528G>T (p.Arg3176Ser) c.9408G>T (p.Arg3136Ser) c.9339G>T (p.Arg3113Ser) c.7743G>T (p.Arg2581Ser) n.9879G>T | |
6 | g.51748013C= | CA1628502307 | PKHD1 | c.9603G= (p.Arg3201=) c.9474G= (p.Arg3158=) c.9465G= (p.Arg3155=) c.8961G= (p.Arg2987=) c.8892G= (p.Arg2964=) c.3678G= (p.Arg1226=) c.9528G= (p.Arg3176=) c.9408G= (p.Arg3136=) c.9339G= (p.Arg3113=) c.7743G= (p.Arg2581=) n.9879G= | |
6 | g.51748013C>G | CA364420715 | PKHD1 | c.9603G>C (p.Arg3201Ser) c.9474G>C (p.Arg3158Ser) c.9465G>C (p.Arg3155Ser) c.8961G>C (p.Arg2987Ser) c.8892G>C (p.Arg2964Ser) c.3678G>C (p.Arg1226Ser) c.9528G>C (p.Arg3176Ser) c.9408G>C (p.Arg3136Ser) c.9339G>C (p.Arg3113Ser) c.7743G>C (p.Arg2581Ser) n.9879G>C | |
6 | g.51748013C>T | CA138896013 | PKHD1 | c.9603G>A (p.Arg3201=) c.9474G>A (p.Arg3158=) c.9465G>A (p.Arg3155=) c.8961G>A (p.Arg2987=) c.8892G>A (p.Arg2964=) c.3678G>A (p.Arg1226=) c.9528G>A (p.Arg3176=) c.9408G>A (p.Arg3136=) c.9339G>A (p.Arg3113=) c.7743G>A (p.Arg2581=) n.9879G>A | ClinVar dbSNP |
6 | g.51748014C>A | CA364420716 | PKHD1 | c.9602G>T (p.Arg3201Met) c.9473G>T (p.Arg3158Met) c.9464G>T (p.Arg3155Met) c.8960G>T (p.Arg2987Met) c.8891G>T (p.Arg2964Met) c.3677G>T (p.Arg1226Met) c.9527G>T (p.Arg3176Met) c.9407G>T (p.Arg3136Met) c.9338G>T (p.Arg3113Met) c.7742G>T (p.Arg2581Met) n.9878G>T | |
6 | g.51748014C= | CA1628502310 | PKHD1 | c.9602G= (p.Arg3201=) c.9473G= (p.Arg3158=) c.9464G= (p.Arg3155=) c.8960G= (p.Arg2987=) c.8891G= (p.Arg2964=) c.3677G= (p.Arg1226=) c.9527G= (p.Arg3176=) c.9407G= (p.Arg3136=) c.9338G= (p.Arg3113=) c.7742G= (p.Arg2581=) n.9878G= | |
6 | g.51748014C>G | CA364420717 | PKHD1 | c.9602G>C (p.Arg3201Thr) c.9473G>C (p.Arg3158Thr) c.9464G>C (p.Arg3155Thr) c.8960G>C (p.Arg2987Thr) c.8891G>C (p.Arg2964Thr) c.3677G>C (p.Arg1226Thr) c.9527G>C (p.Arg3176Thr) c.9407G>C (p.Arg3136Thr) c.9338G>C (p.Arg3113Thr) c.7742G>C (p.Arg2581Thr) n.9878G>C | |
6 | g.51748014C>T | CA364420718 | PKHD1 | c.9602G>A (p.Arg3201Lys) c.9473G>A (p.Arg3158Lys) c.9464G>A (p.Arg3155Lys) c.8960G>A (p.Arg2987Lys) c.8891G>A (p.Arg2964Lys) c.3677G>A (p.Arg1226Lys) c.9527G>A (p.Arg3176Lys) c.9407G>A (p.Arg3136Lys) c.9338G>A (p.Arg3113Lys) c.7742G>A (p.Arg2581Lys) n.9878G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748015T>A | CA364420719 | PKHD1 | c.9601A>T (p.Arg3201Trp) c.9472A>T (p.Arg3158Trp) c.9463A>T (p.Arg3155Trp) c.8959A>T (p.Arg2987Trp) c.8890A>T (p.Arg2964Trp) c.3676A>T (p.Arg1226Trp) c.9526A>T (p.Arg3176Trp) c.9406A>T (p.Arg3136Trp) c.9337A>T (p.Arg3113Trp) c.7741A>T (p.Arg2581Trp) n.9877A>T | |
6 | g.51748015T>C | CA364420720 | PKHD1 | c.9601A>G (p.Arg3201Gly) c.9472A>G (p.Arg3158Gly) c.9463A>G (p.Arg3155Gly) c.8959A>G (p.Arg2987Gly) c.8890A>G (p.Arg2964Gly) c.3676A>G (p.Arg1226Gly) c.9526A>G (p.Arg3176Gly) c.9406A>G (p.Arg3136Gly) c.9337A>G (p.Arg3113Gly) c.7741A>G (p.Arg2581Gly) n.9877A>G | |
6 | g.51748015T>G | CA450613695 | PKHD1 | c.9601A>C (p.Arg3201=) c.9472A>C (p.Arg3158=) c.9463A>C (p.Arg3155=) c.8959A>C (p.Arg2987=) c.8890A>C (p.Arg2964=) c.3676A>C (p.Arg1226=) c.9526A>C (p.Arg3176=) c.9406A>C (p.Arg3136=) c.9337A>C (p.Arg3113=) c.7741A>C (p.Arg2581=) n.9877A>C | |
6 | g.51748016A>C | CA450613697 | PKHD1 | c.9600T>G (p.Leu3200=) c.9471T>G (p.Leu3157=) c.9462T>G (p.Leu3154=) c.8958T>G (p.Leu2986=) c.8889T>G (p.Leu2963=) c.3675T>G (p.Leu1225=) c.9525T>G (p.Leu3175=) c.9405T>G (p.Leu3135=) c.9336T>G (p.Leu3112=) c.7740T>G (p.Leu2580=) n.9876T>G | |
6 | g.51748016A>G | CA450613698 | PKHD1 | c.9600T>C (p.Leu3200=) c.9471T>C (p.Leu3157=) c.9462T>C (p.Leu3154=) c.8958T>C (p.Leu2986=) c.8889T>C (p.Leu2963=) c.3675T>C (p.Leu1225=) c.9525T>C (p.Leu3175=) c.9405T>C (p.Leu3135=) c.9336T>C (p.Leu3112=) c.7740T>C (p.Leu2580=) n.9876T>C | |
6 | g.51748016A>T | CA450613699 | PKHD1 | c.9600T>A (p.Leu3200=) c.9471T>A (p.Leu3157=) c.9462T>A (p.Leu3154=) c.8958T>A (p.Leu2986=) c.8889T>A (p.Leu2963=) c.3675T>A (p.Leu1225=) c.9525T>A (p.Leu3175=) c.9405T>A (p.Leu3135=) c.9336T>A (p.Leu3112=) c.7740T>A (p.Leu2580=) n.9876T>A | |
6 | g.51748017dup | CA2695206425 | PKHD1 | c.9600dup (p.Arg3201Ter) c.9471dup (p.Arg3158Ter) c.9462dup (p.Arg3155Ter) c.8958dup (p.Arg2987Ter) c.8889dup (p.Arg2964Ter) c.3675dup (p.Arg1226Ter) c.9525dup (p.Arg3176Ter) c.9405dup (p.Arg3136Ter) c.9336dup (p.Arg3113Ter) c.7740dup (p.Arg2581Ter) n.9876dup | |
6 | g.51748017del | CA2580075428 | PKHD1 | c.9600del (p.Arg3201GlyfsTer19) c.9471del (p.Arg3158GlyfsTer19) c.9462del (p.Arg3155GlyfsTer19) c.8958del (p.Arg2987GlyfsTer19) c.8889del (p.Arg2964GlyfsTer19) c.3675del (p.Arg1226GlyfsTer19) c.9525del (p.Arg3176GlyfsTer19) c.9405del (p.Arg3136GlyfsTer19) c.9336del (p.Arg3113GlyfsTer19) c.7740del (p.Arg2581GlyfsTer19) n.9876del | ClinVar |
6 | g.51748017A>C | CA364420721 | PKHD1 | c.9599T>G (p.Leu3200Arg) c.9470T>G (p.Leu3157Arg) c.9461T>G (p.Leu3154Arg) c.8957T>G (p.Leu2986Arg) c.8888T>G (p.Leu2963Arg) c.3674T>G (p.Leu1225Arg) c.9524T>G (p.Leu3175Arg) c.9404T>G (p.Leu3135Arg) c.9335T>G (p.Leu3112Arg) c.7739T>G (p.Leu2580Arg) n.9875T>G | gnomAD v4 |
6 | g.51748017A>G | CA364420722 | PKHD1 | c.9599T>C (p.Leu3200Pro) c.9470T>C (p.Leu3157Pro) c.9461T>C (p.Leu3154Pro) c.8957T>C (p.Leu2986Pro) c.8888T>C (p.Leu2963Pro) c.3674T>C (p.Leu1225Pro) c.9524T>C (p.Leu3175Pro) c.9404T>C (p.Leu3135Pro) c.9335T>C (p.Leu3112Pro) c.7739T>C (p.Leu2580Pro) n.9875T>C | |
6 | g.51748017A>T | CA364420723 | PKHD1 | c.9599T>A (p.Leu3200His) c.9470T>A (p.Leu3157His) c.9461T>A (p.Leu3154His) c.8957T>A (p.Leu2986His) c.8888T>A (p.Leu2963His) c.3674T>A (p.Leu1225His) c.9524T>A (p.Leu3175His) c.9404T>A (p.Leu3135His) c.9335T>A (p.Leu3112His) c.7739T>A (p.Leu2580His) n.9875T>A | |
6 | g.51748018G>A | CA138896021 | PKHD1 | c.9598C>T (p.Leu3200Phe) c.9469C>T (p.Leu3157Phe) c.9460C>T (p.Leu3154Phe) c.8956C>T (p.Leu2986Phe) c.8887C>T (p.Leu2963Phe) c.3673C>T (p.Leu1225Phe) c.9523C>T (p.Leu3175Phe) c.9403C>T (p.Leu3135Phe) c.9334C>T (p.Leu3112Phe) c.7738C>T (p.Leu2580Phe) n.9874C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748018G>C | CA364420724 | PKHD1 | c.9598C>G (p.Leu3200Val) c.9469C>G (p.Leu3157Val) c.9460C>G (p.Leu3154Val) c.8956C>G (p.Leu2986Val) c.8887C>G (p.Leu2963Val) c.3673C>G (p.Leu1225Val) c.9523C>G (p.Leu3175Val) c.9403C>G (p.Leu3135Val) c.9334C>G (p.Leu3112Val) c.7738C>G (p.Leu2580Val) n.9874C>G | |
6 | g.51748018G= | CA1628502313 | PKHD1 | c.9598C= (p.Leu3200=) c.9469C= (p.Leu3157=) c.9460C= (p.Leu3154=) c.8956C= (p.Leu2986=) c.8887C= (p.Leu2963=) c.3673C= (p.Leu1225=) c.9523C= (p.Leu3175=) c.9403C= (p.Leu3135=) c.9334C= (p.Leu3112=) c.7738C= (p.Leu2580=) n.9874C= | |
6 | g.51748018G>T | CA364420725 | PKHD1 | c.9598C>A (p.Leu3200Ile) c.9469C>A (p.Leu3157Ile) c.9460C>A (p.Leu3154Ile) c.8956C>A (p.Leu2986Ile) c.8887C>A (p.Leu2963Ile) c.3673C>A (p.Leu1225Ile) c.9523C>A (p.Leu3175Ile) c.9403C>A (p.Leu3135Ile) c.9334C>A (p.Leu3112Ile) c.7738C>A (p.Leu2580Ile) n.9874C>A | |
6 | g.51748019C>A | CA450613700 | PKHD1 | c.9597G>T (p.Val3199=) c.9468G>T (p.Val3156=) c.9459G>T (p.Val3153=) c.8955G>T (p.Val2985=) c.8886G>T (p.Val2962=) c.3672G>T (p.Val1224=) c.9522G>T (p.Val3174=) c.9402G>T (p.Val3134=) c.9333G>T (p.Val3111=) c.7737G>T (p.Val2579=) n.9873G>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748019C= | CA1628502315 | PKHD1 | c.9597G= (p.Val3199=) c.9468G= (p.Val3156=) c.9459G= (p.Val3153=) c.8955G= (p.Val2985=) c.8886G= (p.Val2962=) c.3672G= (p.Val1224=) c.9522G= (p.Val3174=) c.9402G= (p.Val3134=) c.9333G= (p.Val3111=) c.7737G= (p.Val2579=) n.9873G= | |
6 | g.51748019C>G | CA450613701 | PKHD1 | c.9597G>C (p.Val3199=) c.9468G>C (p.Val3156=) c.9459G>C (p.Val3153=) c.8955G>C (p.Val2985=) c.8886G>C (p.Val2962=) c.3672G>C (p.Val1224=) c.9522G>C (p.Val3174=) c.9402G>C (p.Val3134=) c.9333G>C (p.Val3111=) c.7737G>C (p.Val2579=) n.9873G>C | |
6 | g.51748019C>T | CA450613702 | PKHD1 | c.9597G>A (p.Val3199=) c.9468G>A (p.Val3156=) c.9459G>A (p.Val3153=) c.8955G>A (p.Val2985=) c.8886G>A (p.Val2962=) c.3672G>A (p.Val1224=) c.9522G>A (p.Val3174=) c.9402G>A (p.Val3134=) c.9333G>A (p.Val3111=) c.7737G>A (p.Val2579=) n.9873G>A | |
6 | g.51748020A>C | CA364420726 | PKHD1 | c.9596T>G (p.Val3199Gly) c.9467T>G (p.Val3156Gly) c.9458T>G (p.Val3153Gly) c.8954T>G (p.Val2985Gly) c.8885T>G (p.Val2962Gly) c.3671T>G (p.Val1224Gly) c.9521T>G (p.Val3174Gly) c.9401T>G (p.Val3134Gly) c.9332T>G (p.Val3111Gly) c.7736T>G (p.Val2579Gly) n.9872T>G | |
6 | g.51748020A>G | CA364420728 | PKHD1 | c.9596T>C (p.Val3199Ala) c.9467T>C (p.Val3156Ala) c.9458T>C (p.Val3153Ala) c.8954T>C (p.Val2985Ala) c.8885T>C (p.Val2962Ala) c.3671T>C (p.Val1224Ala) c.9521T>C (p.Val3174Ala) c.9401T>C (p.Val3134Ala) c.9332T>C (p.Val3111Ala) c.7736T>C (p.Val2579Ala) n.9872T>C | |
6 | g.51748020A>T | CA364420727 | PKHD1 | c.9596T>A (p.Val3199Glu) c.9467T>A (p.Val3156Glu) c.9458T>A (p.Val3153Glu) c.8954T>A (p.Val2985Glu) c.8885T>A (p.Val2962Glu) c.3671T>A (p.Val1224Glu) c.9521T>A (p.Val3174Glu) c.9401T>A (p.Val3134Glu) c.9332T>A (p.Val3111Glu) c.7736T>A (p.Val2579Glu) n.9872T>A | |
6 | g.51748021C>A | CA364420729 | PKHD1 | c.9595G>T (p.Val3199Leu) c.9466G>T (p.Val3156Leu) c.9457G>T (p.Val3153Leu) c.8953G>T (p.Val2985Leu) c.8884G>T (p.Val2962Leu) c.3670G>T (p.Val1224Leu) c.9520G>T (p.Val3174Leu) c.9400G>T (p.Val3134Leu) c.9331G>T (p.Val3111Leu) c.7735G>T (p.Val2579Leu) n.9871G>T | dbSNP |
6 | g.51748021C= | CA1628502320 | PKHD1 | c.9595G= (p.Val3199=) c.9466G= (p.Val3156=) c.9457G= (p.Val3153=) c.8953G= (p.Val2985=) c.8884G= (p.Val2962=) c.3670G= (p.Val1224=) c.9520G= (p.Val3174=) c.9400G= (p.Val3134=) c.9331G= (p.Val3111=) c.7735G= (p.Val2579=) n.9871G= | |
6 | g.51748021C>G | CA364420730 | PKHD1 | c.9595G>C (p.Val3199Leu) c.9466G>C (p.Val3156Leu) c.9457G>C (p.Val3153Leu) c.8953G>C (p.Val2985Leu) c.8884G>C (p.Val2962Leu) c.3670G>C (p.Val1224Leu) c.9520G>C (p.Val3174Leu) c.9400G>C (p.Val3134Leu) c.9331G>C (p.Val3111Leu) c.7735G>C (p.Val2579Leu) n.9871G>C | |
6 | g.51748021C>T | CA364420731 | PKHD1 | c.9595G>A (p.Val3199Met) c.9466G>A (p.Val3156Met) c.9457G>A (p.Val3153Met) c.8953G>A (p.Val2985Met) c.8884G>A (p.Val2962Met) c.3670G>A (p.Val1224Met) c.9520G>A (p.Val3174Met) c.9400G>A (p.Val3134Met) c.9331G>A (p.Val3111Met) c.7735G>A (p.Val2579Met) n.9871G>A | gnomAD v4 |
6 | g.51748022A= | CA1628502321 | PKHD1 | c.9594T= (p.Ile3198=) c.9465T= (p.Ile3155=) c.9456T= (p.Ile3152=) c.8952T= (p.Ile2984=) c.8883T= (p.Ile2961=) c.3669T= (p.Ile1223=) c.9519T= (p.Ile3173=) c.9399T= (p.Ile3133=) c.9330T= (p.Ile3110=) c.7734T= (p.Ile2578=) n.9870T= | |
6 | g.51748022A>C | CA364420732 | PKHD1 | c.9594T>G (p.Ile3198Met) c.9465T>G (p.Ile3155Met) c.9456T>G (p.Ile3152Met) c.8952T>G (p.Ile2984Met) c.8883T>G (p.Ile2961Met) c.3669T>G (p.Ile1223Met) c.9519T>G (p.Ile3173Met) c.9399T>G (p.Ile3133Met) c.9330T>G (p.Ile3110Met) c.7734T>G (p.Ile2578Met) n.9870T>G | |
6 | g.51748022A>G | CA450613707 | PKHD1 | c.9594T>C (p.Ile3198=) c.9465T>C (p.Ile3155=) c.9456T>C (p.Ile3152=) c.8952T>C (p.Ile2984=) c.8883T>C (p.Ile2961=) c.3669T>C (p.Ile1223=) c.9519T>C (p.Ile3173=) c.9399T>C (p.Ile3133=) c.9330T>C (p.Ile3110=) c.7734T>C (p.Ile2578=) n.9870T>C | |
6 | g.51748022A>T | CA3851366 | PKHD1 | c.9594T>A (p.Ile3198=) c.9465T>A (p.Ile3155=) c.9456T>A (p.Ile3152=) c.8952T>A (p.Ile2984=) c.8883T>A (p.Ile2961=) c.3669T>A (p.Ile1223=) c.9519T>A (p.Ile3173=) c.9399T>A (p.Ile3133=) c.9330T>A (p.Ile3110=) c.7734T>A (p.Ile2578=) n.9870T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748023A>C | CA364420733 | PKHD1 | c.9593T>G (p.Ile3198Ser) c.9464T>G (p.Ile3155Ser) c.9455T>G (p.Ile3152Ser) c.8951T>G (p.Ile2984Ser) c.8882T>G (p.Ile2961Ser) c.3668T>G (p.Ile1223Ser) c.9518T>G (p.Ile3173Ser) c.9398T>G (p.Ile3133Ser) c.9329T>G (p.Ile3110Ser) c.7733T>G (p.Ile2578Ser) n.9869T>G | |
6 | g.51748023A>G | CA364420734 | PKHD1 | c.9593T>C (p.Ile3198Thr) c.9464T>C (p.Ile3155Thr) c.9455T>C (p.Ile3152Thr) c.8951T>C (p.Ile2984Thr) c.8882T>C (p.Ile2961Thr) c.3668T>C (p.Ile1223Thr) c.9518T>C (p.Ile3173Thr) c.9398T>C (p.Ile3133Thr) c.9329T>C (p.Ile3110Thr) c.7733T>C (p.Ile2578Thr) n.9869T>C | gnomAD v4 |
6 | g.51748023A>T | CA364420735 | PKHD1 | c.9593T>A (p.Ile3198Asn) c.9464T>A (p.Ile3155Asn) c.9455T>A (p.Ile3152Asn) c.8951T>A (p.Ile2984Asn) c.8882T>A (p.Ile2961Asn) c.3668T>A (p.Ile1223Asn) c.9518T>A (p.Ile3173Asn) c.9398T>A (p.Ile3133Asn) c.9329T>A (p.Ile3110Asn) c.7733T>A (p.Ile2578Asn) n.9869T>A | |
6 | g.51748024T>A | CA364420736 | PKHD1 | c.9592A>T (p.Ile3198Phe) c.9463A>T (p.Ile3155Phe) c.9454A>T (p.Ile3152Phe) c.8950A>T (p.Ile2984Phe) c.8881A>T (p.Ile2961Phe) c.3667A>T (p.Ile1223Phe) c.9517A>T (p.Ile3173Phe) c.9397A>T (p.Ile3133Phe) c.9328A>T (p.Ile3110Phe) c.7732A>T (p.Ile2578Phe) n.9868A>T | |
6 | g.51748024T>C | CA364420737 | PKHD1 | c.9592A>G (p.Ile3198Val) c.9463A>G (p.Ile3155Val) c.9454A>G (p.Ile3152Val) c.8950A>G (p.Ile2984Val) c.8881A>G (p.Ile2961Val) c.3667A>G (p.Ile1223Val) c.9517A>G (p.Ile3173Val) c.9397A>G (p.Ile3133Val) c.9328A>G (p.Ile3110Val) c.7732A>G (p.Ile2578Val) n.9868A>G | |
6 | g.51748024T>G | CA364420738 | PKHD1 | c.9592A>C (p.Ile3198Leu) c.9463A>C (p.Ile3155Leu) c.9454A>C (p.Ile3152Leu) c.8950A>C (p.Ile2984Leu) c.8881A>C (p.Ile2961Leu) c.3667A>C (p.Ile1223Leu) c.9517A>C (p.Ile3173Leu) c.9397A>C (p.Ile3133Leu) c.9328A>C (p.Ile3110Leu) c.7732A>C (p.Ile2578Leu) n.9868A>C | |
6 | g.51748025C>A | CA364420739 | PKHD1 | c.9591G>T (p.Gln3197His) c.9462G>T (p.Gln3154His) c.9453G>T (p.Gln3151His) c.8949G>T (p.Gln2983His) c.8880G>T (p.Gln2960His) c.3666G>T (p.Gln1222His) c.9516G>T (p.Gln3172His) c.9396G>T (p.Gln3132His) c.9327G>T (p.Gln3109His) c.7731G>T (p.Gln2577His) n.9867G>T | dbSNP |
6 | g.51748025C= | CA1628502322 | PKHD1 | c.9591G= (p.Gln3197=) c.9462G= (p.Gln3154=) c.9453G= (p.Gln3151=) c.8949G= (p.Gln2983=) c.8880G= (p.Gln2960=) c.3666G= (p.Gln1222=) c.9516G= (p.Gln3172=) c.9396G= (p.Gln3132=) c.9327G= (p.Gln3109=) c.7731G= (p.Gln2577=) n.9867G= | |
6 | g.51748025C>G | CA364420740 | PKHD1 | c.9591G>C (p.Gln3197His) c.9462G>C (p.Gln3154His) c.9453G>C (p.Gln3151His) c.8949G>C (p.Gln2983His) c.8880G>C (p.Gln2960His) c.3666G>C (p.Gln1222His) c.9516G>C (p.Gln3172His) c.9396G>C (p.Gln3132His) c.9327G>C (p.Gln3109His) c.7731G>C (p.Gln2577His) n.9867G>C | dbSNP gnomAD v2 |
6 | g.51748025C>T | CA450613711 | PKHD1 | c.9591G>A (p.Gln3197=) c.9462G>A (p.Gln3154=) c.9453G>A (p.Gln3151=) c.8949G>A (p.Gln2983=) c.8880G>A (p.Gln2960=) c.3666G>A (p.Gln1222=) c.9516G>A (p.Gln3172=) c.9396G>A (p.Gln3132=) c.9327G>A (p.Gln3109=) c.7731G>A (p.Gln2577=) n.9867G>A | |
6 | g.51748026T>A | CA138896026 | PKHD1 | c.9590A>T (p.Gln3197Leu) c.9461A>T (p.Gln3154Leu) c.9452A>T (p.Gln3151Leu) c.8948A>T (p.Gln2983Leu) c.8879A>T (p.Gln2960Leu) c.3665A>T (p.Gln1222Leu) c.9515A>T (p.Gln3172Leu) c.9395A>T (p.Gln3132Leu) c.9326A>T (p.Gln3109Leu) c.7730A>T (p.Gln2577Leu) n.9866A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748026T>C | CA364420741 | PKHD1 | c.9590A>G (p.Gln3197Arg) c.9461A>G (p.Gln3154Arg) c.9452A>G (p.Gln3151Arg) c.8948A>G (p.Gln2983Arg) c.8879A>G (p.Gln2960Arg) c.3665A>G (p.Gln1222Arg) c.9515A>G (p.Gln3172Arg) c.9395A>G (p.Gln3132Arg) c.9326A>G (p.Gln3109Arg) c.7730A>G (p.Gln2577Arg) n.9866A>G | |
6 | g.51748026T>G | CA364420742 | PKHD1 | c.9590A>C (p.Gln3197Pro) c.9461A>C (p.Gln3154Pro) c.9452A>C (p.Gln3151Pro) c.8948A>C (p.Gln2983Pro) c.8879A>C (p.Gln2960Pro) c.3665A>C (p.Gln1222Pro) c.9515A>C (p.Gln3172Pro) c.9395A>C (p.Gln3132Pro) c.9326A>C (p.Gln3109Pro) c.7730A>C (p.Gln2577Pro) n.9866A>C | |
6 | g.51748026T= | CA1628502326 | PKHD1 | c.9590A= (p.Gln3197=) c.9461A= (p.Gln3154=) c.9452A= (p.Gln3151=) c.8948A= (p.Gln2983=) c.8879A= (p.Gln2960=) c.3665A= (p.Gln1222=) c.9515A= (p.Gln3172=) c.9395A= (p.Gln3132=) c.9326A= (p.Gln3109=) c.7730A= (p.Gln2577=) n.9866A= | |
6 | g.51748027G>A | CA364420743 | PKHD1 | c.9589C>T (p.Gln3197Ter) c.9460C>T (p.Gln3154Ter) c.9451C>T (p.Gln3151Ter) c.8947C>T (p.Gln2983Ter) c.8878C>T (p.Gln2960Ter) c.3664C>T (p.Gln1222Ter) c.9514C>T (p.Gln3172Ter) c.9394C>T (p.Gln3132Ter) c.9325C>T (p.Gln3109Ter) c.7729C>T (p.Gln2577Ter) n.9865C>T | ClinVar dbSNP |
6 | g.51748027G>C | CA364420744 | PKHD1 | c.9589C>G (p.Gln3197Glu) c.9460C>G (p.Gln3154Glu) c.9451C>G (p.Gln3151Glu) c.8947C>G (p.Gln2983Glu) c.8878C>G (p.Gln2960Glu) c.3664C>G (p.Gln1222Glu) c.9514C>G (p.Gln3172Glu) c.9394C>G (p.Gln3132Glu) c.9325C>G (p.Gln3109Glu) c.7729C>G (p.Gln2577Glu) n.9865C>G | |
6 | g.51748027G>T | CA364420745 | PKHD1 | c.9589C>A (p.Gln3197Lys) c.9460C>A (p.Gln3154Lys) c.9451C>A (p.Gln3151Lys) c.8947C>A (p.Gln2983Lys) c.8878C>A (p.Gln2960Lys) c.3664C>A (p.Gln1222Lys) c.9514C>A (p.Gln3172Lys) c.9394C>A (p.Gln3132Lys) c.9325C>A (p.Gln3109Lys) c.7729C>A (p.Gln2577Lys) n.9865C>A | gnomAD v4 |
6 | g.51748028C>A | CA450613718 | PKHD1 | c.9588G>T (p.Val3196=) c.9459G>T (p.Val3153=) c.9450G>T (p.Val3150=) c.8946G>T (p.Val2982=) c.8877G>T (p.Val2959=) c.3663G>T (p.Val1221=) c.9513G>T (p.Val3171=) c.9393G>T (p.Val3131=) c.9324G>T (p.Val3108=) c.7728G>T (p.Val2576=) n.9864G>T | |
6 | g.51748028C>G | CA450613719 | PKHD1 | c.9588G>C (p.Val3196=) c.9459G>C (p.Val3153=) c.9450G>C (p.Val3150=) c.8946G>C (p.Val2982=) c.8877G>C (p.Val2959=) c.3663G>C (p.Val1221=) c.9513G>C (p.Val3171=) c.9393G>C (p.Val3131=) c.9324G>C (p.Val3108=) c.7728G>C (p.Val2576=) n.9864G>C | gnomAD v4 |
6 | g.51748028C>T | CA450613720 | PKHD1 | c.9588G>A (p.Val3196=) c.9459G>A (p.Val3153=) c.9450G>A (p.Val3150=) c.8946G>A (p.Val2982=) c.8877G>A (p.Val2959=) c.3663G>A (p.Val1221=) c.9513G>A (p.Val3171=) c.9393G>A (p.Val3131=) c.9324G>A (p.Val3108=) c.7728G>A (p.Val2576=) n.9864G>A | ClinVar dbSNP gnomAD v4 |
6 | g.51748029A>C | CA364420746 | PKHD1 | c.9587T>G (p.Val3196Gly) c.9458T>G (p.Val3153Gly) c.9449T>G (p.Val3150Gly) c.8945T>G (p.Val2982Gly) c.8876T>G (p.Val2959Gly) c.3662T>G (p.Val1221Gly) c.9512T>G (p.Val3171Gly) c.9392T>G (p.Val3131Gly) c.9323T>G (p.Val3108Gly) c.7727T>G (p.Val2576Gly) n.9863T>G | |
6 | g.51748029A>G | CA364420747 | PKHD1 | c.9587T>C (p.Val3196Ala) c.9458T>C (p.Val3153Ala) c.9449T>C (p.Val3150Ala) c.8945T>C (p.Val2982Ala) c.8876T>C (p.Val2959Ala) c.3662T>C (p.Val1221Ala) c.9512T>C (p.Val3171Ala) c.9392T>C (p.Val3131Ala) c.9323T>C (p.Val3108Ala) c.7727T>C (p.Val2576Ala) n.9863T>C | |
6 | g.51748029A>T | CA364420748 | PKHD1 | c.9587T>A (p.Val3196Glu) c.9458T>A (p.Val3153Glu) c.9449T>A (p.Val3150Glu) c.8945T>A (p.Val2982Glu) c.8876T>A (p.Val2959Glu) c.3662T>A (p.Val1221Glu) c.9512T>A (p.Val3171Glu) c.9392T>A (p.Val3131Glu) c.9323T>A (p.Val3108Glu) c.7727T>A (p.Val2576Glu) n.9863T>A | |
6 | g.51748030C>A | CA364420749 | PKHD1 | c.9586G>T (p.Val3196Leu) c.9457G>T (p.Val3153Leu) c.9448G>T (p.Val3150Leu) c.8944G>T (p.Val2982Leu) c.8875G>T (p.Val2959Leu) c.3661G>T (p.Val1221Leu) c.9511G>T (p.Val3171Leu) c.9391G>T (p.Val3131Leu) c.9322G>T (p.Val3108Leu) c.7726G>T (p.Val2576Leu) n.9862G>T | |
6 | g.51748030C= | CA1628502331 | PKHD1 | c.9586G= (p.Val3196=) c.9457G= (p.Val3153=) c.9448G= (p.Val3150=) c.8944G= (p.Val2982=) c.8875G= (p.Val2959=) c.3661G= (p.Val1221=) c.9511G= (p.Val3171=) c.9391G= (p.Val3131=) c.9322G= (p.Val3108=) c.7726G= (p.Val2576=) n.9862G= | |
6 | g.51748030C>G | CA138896027 | PKHD1 | c.9586G>C (p.Val3196Leu) c.9457G>C (p.Val3153Leu) c.9448G>C (p.Val3150Leu) c.8944G>C (p.Val2982Leu) c.8875G>C (p.Val2959Leu) c.3661G>C (p.Val1221Leu) c.9511G>C (p.Val3171Leu) c.9391G>C (p.Val3131Leu) c.9322G>C (p.Val3108Leu) c.7726G>C (p.Val2576Leu) n.9862G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748030C>T | CA364420750 | PKHD1 | c.9586G>A (p.Val3196Met) c.9457G>A (p.Val3153Met) c.9448G>A (p.Val3150Met) c.8944G>A (p.Val2982Met) c.8875G>A (p.Val2959Met) c.3661G>A (p.Val1221Met) c.9511G>A (p.Val3171Met) c.9391G>A (p.Val3131Met) c.9322G>A (p.Val3108Met) c.7726G>A (p.Val2576Met) n.9862G>A | gnomAD v4 |
6 | g.51748030_51748033del | CA913110676 | PKHD1 | c.9583_9586del (p.Lys3195CysfsTer24) c.9454_9457del (p.Lys3152CysfsTer24) c.9445_9448del (p.Lys3149CysfsTer24) c.8941_8944del (p.Lys2981CysfsTer24) c.8872_8875del (p.Lys2958CysfsTer24) c.3658_3661del (p.Lys1220CysfsTer24) c.9508_9511del (p.Lys3170CysfsTer24) c.9388_9391del (p.Lys3130CysfsTer24) c.9319_9322del (p.Lys3107CysfsTer24) c.7723_7726del (p.Lys2575CysfsTer24) n.9859_9862del | |
6 | g.51748030_51748033delinsCTTT | CA1628502333 | PKHD1 | c.9583_9586delinsAAAG (p.Lys3195=) c.9454_9457delinsAAAG (p.Lys3152=) c.9445_9448delinsAAAG (p.Lys3149=) c.8941_8944delinsAAAG (p.Lys2981=) c.8872_8875delinsAAAG (p.Lys2958=) c.3658_3661delinsAAAG (p.Lys1220=) c.9508_9511delinsAAAG (p.Lys3170=) c.9388_9391delinsAAAG (p.Lys3130=) c.9319_9322delinsAAAG (p.Lys3107=) c.7723_7726delinsAAAG (p.Lys2575=) n.9859_9862delinsAAAG | |
6 | g.51748031T>A | CA364420751 | PKHD1 | c.9585A>T (p.Lys3195Asn) c.9456A>T (p.Lys3152Asn) c.9447A>T (p.Lys3149Asn) c.8943A>T (p.Lys2981Asn) c.8874A>T (p.Lys2958Asn) c.3660A>T (p.Lys1220Asn) c.9510A>T (p.Lys3170Asn) c.9390A>T (p.Lys3130Asn) c.9321A>T (p.Lys3107Asn) c.7725A>T (p.Lys2575Asn) n.9861A>T | |
6 | g.51748031T>C | CA450613721 | PKHD1 | c.9585A>G (p.Lys3195=) c.9456A>G (p.Lys3152=) c.9447A>G (p.Lys3149=) c.8943A>G (p.Lys2981=) c.8874A>G (p.Lys2958=) c.3660A>G (p.Lys1220=) c.9510A>G (p.Lys3170=) c.9390A>G (p.Lys3130=) c.9321A>G (p.Lys3107=) c.7725A>G (p.Lys2575=) n.9861A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748031T>G | CA364420752 | PKHD1 | c.9585A>C (p.Lys3195Asn) c.9456A>C (p.Lys3152Asn) c.9447A>C (p.Lys3149Asn) c.8943A>C (p.Lys2981Asn) c.8874A>C (p.Lys2958Asn) c.3660A>C (p.Lys1220Asn) c.9510A>C (p.Lys3170Asn) c.9390A>C (p.Lys3130Asn) c.9321A>C (p.Lys3107Asn) c.7725A>C (p.Lys2575Asn) n.9861A>C | ClinVar dbSNP gnomAD v4 |
6 | g.51748031T= | CA1628502342 | PKHD1 | c.9585A= (p.Lys3195=) c.9456A= (p.Lys3152=) c.9447A= (p.Lys3149=) c.8943A= (p.Lys2981=) c.8874A= (p.Lys2958=) c.3660A= (p.Lys1220=) c.9510A= (p.Lys3170=) c.9390A= (p.Lys3130=) c.9321A= (p.Lys3107=) c.7725A= (p.Lys2575=) n.9861A= | |
6 | g.51748036dup | CA1628502340 | PKHD1 | c.9585dup (p.Val3196SerfsTer6) c.9456dup (p.Val3153SerfsTer6) c.9447dup (p.Val3150SerfsTer6) c.8943dup (p.Val2982SerfsTer6) c.8874dup (p.Val2959SerfsTer6) c.3660dup (p.Val1221SerfsTer6) c.9510dup (p.Val3171SerfsTer6) c.9390dup (p.Val3131SerfsTer6) c.9321dup (p.Val3108SerfsTer6) c.7725dup (p.Val2576SerfsTer6) n.9861dup | dbSNP |
6 | g.51748035_51748036del | CA2695198857 | PKHD1 | c.9584_9585del (p.Lys3195SerfsTer6) c.9455_9456del (p.Lys3152SerfsTer6) c.9446_9447del (p.Lys3149SerfsTer6) c.8942_8943del (p.Lys2981SerfsTer6) c.8873_8874del (p.Lys2958SerfsTer6) c.3659_3660del (p.Lys1220SerfsTer6) c.9509_9510del (p.Lys3170SerfsTer6) c.9389_9390del (p.Lys3130SerfsTer6) c.9320_9321del (p.Lys3107SerfsTer6) c.7724_7725del (p.Lys2575SerfsTer6) n.9860_9861del | ClinVar |
6 | g.51748034_51748036del | CA658821794 | PKHD1 | c.9583_9585del (p.Lys3195del) c.9454_9456del (p.Lys3152del) c.9445_9447del (p.Lys3149del) c.8941_8943del (p.Lys2981del) c.8872_8874del (p.Lys2958del) c.3658_3660del (p.Lys1220del) c.9508_9510del (p.Lys3170del) c.9388_9390del (p.Lys3130del) c.9319_9321del (p.Lys3107del) c.7723_7725del (p.Lys2575del) n.9859_9861del | ClinVar dbSNP gnomAD v4 |
6 | g.51748032T>A | CA364420755 | PKHD1 | c.9584A>T (p.Lys3195Ile) c.9455A>T (p.Lys3152Ile) c.9446A>T (p.Lys3149Ile) c.8942A>T (p.Lys2981Ile) c.8873A>T (p.Lys2958Ile) c.3659A>T (p.Lys1220Ile) c.9509A>T (p.Lys3170Ile) c.9389A>T (p.Lys3130Ile) c.9320A>T (p.Lys3107Ile) c.7724A>T (p.Lys2575Ile) n.9860A>T | gnomAD v4 |
6 | g.51748032T>C | CA364420753 | PKHD1 | c.9584A>G (p.Lys3195Arg) c.9455A>G (p.Lys3152Arg) c.9446A>G (p.Lys3149Arg) c.8942A>G (p.Lys2981Arg) c.8873A>G (p.Lys2958Arg) c.3659A>G (p.Lys1220Arg) c.9509A>G (p.Lys3170Arg) c.9389A>G (p.Lys3130Arg) c.9320A>G (p.Lys3107Arg) c.7724A>G (p.Lys2575Arg) n.9860A>G | |
6 | g.51748032T>G | CA364420754 | PKHD1 | c.9584A>C (p.Lys3195Thr) c.9455A>C (p.Lys3152Thr) c.9446A>C (p.Lys3149Thr) c.8942A>C (p.Lys2981Thr) c.8873A>C (p.Lys2958Thr) c.3659A>C (p.Lys1220Thr) c.9509A>C (p.Lys3170Thr) c.9389A>C (p.Lys3130Thr) c.9320A>C (p.Lys3107Thr) c.7724A>C (p.Lys2575Thr) n.9860A>C | |
6 | g.51748033T>A | CA364420756 | PKHD1 | c.9583A>T (p.Lys3195Ter) c.9454A>T (p.Lys3152Ter) c.9445A>T (p.Lys3149Ter) c.8941A>T (p.Lys2981Ter) c.8872A>T (p.Lys2958Ter) c.3658A>T (p.Lys1220Ter) c.9508A>T (p.Lys3170Ter) c.9388A>T (p.Lys3130Ter) c.9319A>T (p.Lys3107Ter) c.7723A>T (p.Lys2575Ter) n.9859A>T | |
6 | g.51748033T>C | CA364420758 | PKHD1 | c.9583A>G (p.Lys3195Glu) c.9454A>G (p.Lys3152Glu) c.9445A>G (p.Lys3149Glu) c.8941A>G (p.Lys2981Glu) c.8872A>G (p.Lys2958Glu) c.3658A>G (p.Lys1220Glu) c.9508A>G (p.Lys3170Glu) c.9388A>G (p.Lys3130Glu) c.9319A>G (p.Lys3107Glu) c.7723A>G (p.Lys2575Glu) n.9859A>G | gnomAD v4 |
6 | g.51748033T>G | CA364420757 | PKHD1 | c.9583A>C (p.Lys3195Gln) c.9454A>C (p.Lys3152Gln) c.9445A>C (p.Lys3149Gln) c.8941A>C (p.Lys2981Gln) c.8872A>C (p.Lys2958Gln) c.3658A>C (p.Lys1220Gln) c.9508A>C (p.Lys3170Gln) c.9388A>C (p.Lys3130Gln) c.9319A>C (p.Lys3107Gln) c.7723A>C (p.Lys2575Gln) n.9859A>C | |
6 | g.51748034T>A | CA364420759 | PKHD1 | c.9582A>T (p.Lys3194Asn) c.9453A>T (p.Lys3151Asn) c.9444A>T (p.Lys3148Asn) c.8940A>T (p.Lys2980Asn) c.8871A>T (p.Lys2957Asn) c.3657A>T (p.Lys1219Asn) c.9507A>T (p.Lys3169Asn) c.9387A>T (p.Lys3129Asn) c.9318A>T (p.Lys3106Asn) c.7722A>T (p.Lys2574Asn) n.9858A>T | |
6 | g.51748034T>C | CA450613726 | PKHD1 | c.9582A>G (p.Lys3194=) c.9453A>G (p.Lys3151=) c.9444A>G (p.Lys3148=) c.8940A>G (p.Lys2980=) c.8871A>G (p.Lys2957=) c.3657A>G (p.Lys1219=) c.9507A>G (p.Lys3169=) c.9387A>G (p.Lys3129=) c.9318A>G (p.Lys3106=) c.7722A>G (p.Lys2574=) n.9858A>G | ClinVar |
6 | g.51748034T>G | CA364420760 | PKHD1 | c.9582A>C (p.Lys3194Asn) c.9453A>C (p.Lys3151Asn) c.9444A>C (p.Lys3148Asn) c.8940A>C (p.Lys2980Asn) c.8871A>C (p.Lys2957Asn) c.3657A>C (p.Lys1219Asn) c.9507A>C (p.Lys3169Asn) c.9387A>C (p.Lys3129Asn) c.9318A>C (p.Lys3106Asn) c.7722A>C (p.Lys2574Asn) n.9858A>C | |
6 | g.51748035T>A | CA364420761 | PKHD1 | c.9581A>T (p.Lys3194Ile) c.9452A>T (p.Lys3151Ile) c.9443A>T (p.Lys3148Ile) c.8939A>T (p.Lys2980Ile) c.8870A>T (p.Lys2957Ile) c.3656A>T (p.Lys1219Ile) c.9506A>T (p.Lys3169Ile) c.9386A>T (p.Lys3129Ile) c.9317A>T (p.Lys3106Ile) c.7721A>T (p.Lys2574Ile) n.9857A>T | |
6 | g.51748035T>C | CA364420762 | PKHD1 | c.9581A>G (p.Lys3194Arg) c.9452A>G (p.Lys3151Arg) c.9443A>G (p.Lys3148Arg) c.8939A>G (p.Lys2980Arg) c.8870A>G (p.Lys2957Arg) c.3656A>G (p.Lys1219Arg) c.9506A>G (p.Lys3169Arg) c.9386A>G (p.Lys3129Arg) c.9317A>G (p.Lys3106Arg) c.7721A>G (p.Lys2574Arg) n.9857A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748035T>G | CA364420763 | PKHD1 | c.9581A>C (p.Lys3194Thr) c.9452A>C (p.Lys3151Thr) c.9443A>C (p.Lys3148Thr) c.8939A>C (p.Lys2980Thr) c.8870A>C (p.Lys2957Thr) c.3656A>C (p.Lys1219Thr) c.9506A>C (p.Lys3169Thr) c.9386A>C (p.Lys3129Thr) c.9317A>C (p.Lys3106Thr) c.7721A>C (p.Lys2574Thr) n.9857A>C | |
6 | g.51748035T= | CA1628502348 | PKHD1 | c.9581A= (p.Lys3194=) c.9452A= (p.Lys3151=) c.9443A= (p.Lys3148=) c.8939A= (p.Lys2980=) c.8870A= (p.Lys2957=) c.3656A= (p.Lys1219=) c.9506A= (p.Lys3169=) c.9386A= (p.Lys3129=) c.9317A= (p.Lys3106=) c.7721A= (p.Lys2574=) n.9857A= | |
6 | g.51748036T>A | CA364420764 | PKHD1 | c.9580A>T (p.Lys3194Ter) c.9451A>T (p.Lys3151Ter) c.9442A>T (p.Lys3148Ter) c.8938A>T (p.Lys2980Ter) c.8869A>T (p.Lys2957Ter) c.3655A>T (p.Lys1219Ter) c.9505A>T (p.Lys3169Ter) c.9385A>T (p.Lys3129Ter) c.9316A>T (p.Lys3106Ter) c.7720A>T (p.Lys2574Ter) n.9856A>T | |
6 | g.51748036T>C | CA3851367 | PKHD1 | c.9580A>G (p.Lys3194Glu) c.9451A>G (p.Lys3151Glu) c.9442A>G (p.Lys3148Glu) c.8938A>G (p.Lys2980Glu) c.8869A>G (p.Lys2957Glu) c.3655A>G (p.Lys1219Glu) c.9505A>G (p.Lys3169Glu) c.9385A>G (p.Lys3129Glu) c.9316A>G (p.Lys3106Glu) c.7720A>G (p.Lys2574Glu) n.9856A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748036T>G | CA364420765 | PKHD1 | c.9580A>C (p.Lys3194Gln) c.9451A>C (p.Lys3151Gln) c.9442A>C (p.Lys3148Gln) c.8938A>C (p.Lys2980Gln) c.8869A>C (p.Lys2957Gln) c.3655A>C (p.Lys1219Gln) c.9505A>C (p.Lys3169Gln) c.9385A>C (p.Lys3129Gln) c.9316A>C (p.Lys3106Gln) c.7720A>C (p.Lys2574Gln) n.9856A>C | |
6 | g.51748036T= | CA1628502353 | PKHD1 | c.9580A= (p.Lys3194=) c.9451A= (p.Lys3151=) c.9442A= (p.Lys3148=) c.8938A= (p.Lys2980=) c.8869A= (p.Lys2957=) c.3655A= (p.Lys1219=) c.9505A= (p.Lys3169=) c.9385A= (p.Lys3129=) c.9316A= (p.Lys3106=) c.7720A= (p.Lys2574=) n.9856A= | |
6 | g.51748037G>A | CA450613729 | PKHD1 | c.9579C>T (p.Val3193=) c.9450C>T (p.Val3150=) c.9441C>T (p.Val3147=) c.8937C>T (p.Val2979=) c.8868C>T (p.Val2956=) c.3654C>T (p.Val1218=) c.9504C>T (p.Val3168=) c.9384C>T (p.Val3128=) c.9315C>T (p.Val3105=) c.7719C>T (p.Val2573=) n.9855C>T | |
6 | g.51748037G>C | CA450613730 | PKHD1 | c.9579C>G (p.Val3193=) c.9450C>G (p.Val3150=) c.9441C>G (p.Val3147=) c.8937C>G (p.Val2979=) c.8868C>G (p.Val2956=) c.3654C>G (p.Val1218=) c.9504C>G (p.Val3168=) c.9384C>G (p.Val3128=) c.9315C>G (p.Val3105=) c.7719C>G (p.Val2573=) n.9855C>G | gnomAD v4 |
6 | g.51748037G>T | CA450613732 | PKHD1 | c.9579C>A (p.Val3193=) c.9450C>A (p.Val3150=) c.9441C>A (p.Val3147=) c.8937C>A (p.Val2979=) c.8868C>A (p.Val2956=) c.3654C>A (p.Val1218=) c.9504C>A (p.Val3168=) c.9384C>A (p.Val3128=) c.9315C>A (p.Val3105=) c.7719C>A (p.Val2573=) n.9855C>A | |
6 | g.51748038A>C | CA364420766 | PKHD1 | c.9578T>G (p.Val3193Gly) c.9449T>G (p.Val3150Gly) c.9440T>G (p.Val3147Gly) c.8936T>G (p.Val2979Gly) c.8867T>G (p.Val2956Gly) c.3653T>G (p.Val1218Gly) c.9503T>G (p.Val3168Gly) c.9383T>G (p.Val3128Gly) c.9314T>G (p.Val3105Gly) c.7718T>G (p.Val2573Gly) n.9854T>G | |
6 | g.51748038A>G | CA364420767 | PKHD1 | c.9578T>C (p.Val3193Ala) c.9449T>C (p.Val3150Ala) c.9440T>C (p.Val3147Ala) c.8936T>C (p.Val2979Ala) c.8867T>C (p.Val2956Ala) c.3653T>C (p.Val1218Ala) c.9503T>C (p.Val3168Ala) c.9383T>C (p.Val3128Ala) c.9314T>C (p.Val3105Ala) c.7718T>C (p.Val2573Ala) n.9854T>C | |
6 | g.51748038A>T | CA364420768 | PKHD1 | c.9578T>A (p.Val3193Asp) c.9449T>A (p.Val3150Asp) c.9440T>A (p.Val3147Asp) c.8936T>A (p.Val2979Asp) c.8867T>A (p.Val2956Asp) c.3653T>A (p.Val1218Asp) c.9503T>A (p.Val3168Asp) c.9383T>A (p.Val3128Asp) c.9314T>A (p.Val3105Asp) c.7718T>A (p.Val2573Asp) n.9854T>A | |
6 | g.51748039C>A | CA364420770 | PKHD1 | c.9577G>T (p.Val3193Phe) c.9448G>T (p.Val3150Phe) c.9439G>T (p.Val3147Phe) c.8935G>T (p.Val2979Phe) c.8866G>T (p.Val2956Phe) c.3652G>T (p.Val1218Phe) c.9502G>T (p.Val3168Phe) c.9382G>T (p.Val3128Phe) c.9313G>T (p.Val3105Phe) c.7717G>T (p.Val2573Phe) n.9853G>T | |
6 | g.51748039C= | CA1628502359 | PKHD1 | c.9577G= (p.Val3193=) c.9448G= (p.Val3150=) c.9439G= (p.Val3147=) c.8935G= (p.Val2979=) c.8866G= (p.Val2956=) c.3652G= (p.Val1218=) c.9502G= (p.Val3168=) c.9382G= (p.Val3128=) c.9313G= (p.Val3105=) c.7717G= (p.Val2573=) n.9853G= | |
6 | g.51748039C>G | CA364420769 | PKHD1 | c.9577G>C (p.Val3193Leu) c.9448G>C (p.Val3150Leu) c.9439G>C (p.Val3147Leu) c.8935G>C (p.Val2979Leu) c.8866G>C (p.Val2956Leu) c.3652G>C (p.Val1218Leu) c.9502G>C (p.Val3168Leu) c.9382G>C (p.Val3128Leu) c.9313G>C (p.Val3105Leu) c.7717G>C (p.Val2573Leu) n.9853G>C | |
6 | g.51748039C>T | CA348314 | PKHD1 | c.9577G>A (p.Val3193Ile) c.9448G>A (p.Val3150Ile) c.9439G>A (p.Val3147Ile) c.8935G>A (p.Val2979Ile) c.8866G>A (p.Val2956Ile) c.3652G>A (p.Val1218Ile) c.9502G>A (p.Val3168Ile) c.9382G>A (p.Val3128Ile) c.9313G>A (p.Val3105Ile) c.7717G>A (p.Val2573Ile) n.9853G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.51748040G>A | CA3851368 | PKHD1 | c.9576C>T (p.Ser3192=) c.9447C>T (p.Ser3149=) c.9438C>T (p.Ser3146=) c.8934C>T (p.Ser2978=) c.8865C>T (p.Ser2955=) c.3651C>T (p.Ser1217=) c.9501C>T (p.Ser3167=) c.9381C>T (p.Ser3127=) c.9312C>T (p.Ser3104=) c.7716C>T (p.Ser2572=) n.9852C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748040G>C | CA450613736 | PKHD1 | c.9576C>G (p.Ser3192=) c.9447C>G (p.Ser3149=) c.9438C>G (p.Ser3146=) c.8934C>G (p.Ser2978=) c.8865C>G (p.Ser2955=) c.3651C>G (p.Ser1217=) c.9501C>G (p.Ser3167=) c.9381C>G (p.Ser3127=) c.9312C>G (p.Ser3104=) c.7716C>G (p.Ser2572=) n.9852C>G | COSMIC |
6 | g.51748040G= | CA1628502368 | PKHD1 | c.9576C= (p.Ser3192=) c.9447C= (p.Ser3149=) c.9438C= (p.Ser3146=) c.8934C= (p.Ser2978=) c.8865C= (p.Ser2955=) c.3651C= (p.Ser1217=) c.9501C= (p.Ser3167=) c.9381C= (p.Ser3127=) c.9312C= (p.Ser3104=) c.7716C= (p.Ser2572=) n.9852C= | |
6 | g.51748040G>T | CA450613738 | PKHD1 | c.9576C>A (p.Ser3192=) c.9447C>A (p.Ser3149=) c.9438C>A (p.Ser3146=) c.8934C>A (p.Ser2978=) c.8865C>A (p.Ser2955=) c.3651C>A (p.Ser1217=) c.9501C>A (p.Ser3167=) c.9381C>A (p.Ser3127=) c.9312C>A (p.Ser3104=) c.7716C>A (p.Ser2572=) n.9852C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748041dup | CA2695206426 | PKHD1 | c.9576dup (p.Val3193ArgfsTer9) c.9447dup (p.Val3150ArgfsTer9) c.9438dup (p.Val3147ArgfsTer9) c.8934dup (p.Val2979ArgfsTer9) c.8865dup (p.Val2956ArgfsTer9) c.3651dup (p.Val1218ArgfsTer9) c.9501dup (p.Val3168ArgfsTer9) c.9381dup (p.Val3128ArgfsTer9) c.9312dup (p.Val3105ArgfsTer9) c.7716dup (p.Val2573ArgfsTer9) n.9852dup | |
6 | g.51748041G>A | CA138896033 | PKHD1 | c.9575C>T (p.Ser3192Phe) c.9446C>T (p.Ser3149Phe) c.9437C>T (p.Ser3146Phe) c.8933C>T (p.Ser2978Phe) c.8864C>T (p.Ser2955Phe) c.3650C>T (p.Ser1217Phe) c.9500C>T (p.Ser3167Phe) c.9380C>T (p.Ser3127Phe) c.9311C>T (p.Ser3104Phe) c.7715C>T (p.Ser2572Phe) n.9851C>T | dbSNP |
6 | g.51748041G>C | CA364420771 | PKHD1 | c.9575C>G (p.Ser3192Cys) c.9446C>G (p.Ser3149Cys) c.9437C>G (p.Ser3146Cys) c.8933C>G (p.Ser2978Cys) c.8864C>G (p.Ser2955Cys) c.3650C>G (p.Ser1217Cys) c.9500C>G (p.Ser3167Cys) c.9380C>G (p.Ser3127Cys) c.9311C>G (p.Ser3104Cys) c.7715C>G (p.Ser2572Cys) n.9851C>G | |
6 | g.51748041G= | CA1628502376 | PKHD1 | c.9575C= (p.Ser3192=) c.9446C= (p.Ser3149=) c.9437C= (p.Ser3146=) c.8933C= (p.Ser2978=) c.8864C= (p.Ser2955=) c.3650C= (p.Ser1217=) c.9500C= (p.Ser3167=) c.9380C= (p.Ser3127=) c.9311C= (p.Ser3104=) c.7715C= (p.Ser2572=) n.9851C= | |
6 | g.51748041G>T | CA364420772 | PKHD1 | c.9575C>A (p.Ser3192Tyr) c.9446C>A (p.Ser3149Tyr) c.9437C>A (p.Ser3146Tyr) c.8933C>A (p.Ser2978Tyr) c.8864C>A (p.Ser2955Tyr) c.3650C>A (p.Ser1217Tyr) c.9500C>A (p.Ser3167Tyr) c.9380C>A (p.Ser3127Tyr) c.9311C>A (p.Ser3104Tyr) c.7715C>A (p.Ser2572Tyr) n.9851C>A | COSMIC COSMIC |
6 | g.51748042A>C | CA364420773 | PKHD1 | c.9574T>G (p.Ser3192Ala) c.9445T>G (p.Ser3149Ala) c.9436T>G (p.Ser3146Ala) c.8932T>G (p.Ser2978Ala) c.8863T>G (p.Ser2955Ala) c.3649T>G (p.Ser1217Ala) c.9499T>G (p.Ser3167Ala) c.9379T>G (p.Ser3127Ala) c.9310T>G (p.Ser3104Ala) c.7714T>G (p.Ser2572Ala) n.9850T>G | |
6 | g.51748042A>G | CA364420774 | PKHD1 | c.9574T>C (p.Ser3192Pro) c.9445T>C (p.Ser3149Pro) c.9436T>C (p.Ser3146Pro) c.8932T>C (p.Ser2978Pro) c.8863T>C (p.Ser2955Pro) c.3649T>C (p.Ser1217Pro) c.9499T>C (p.Ser3167Pro) c.9379T>C (p.Ser3127Pro) c.9310T>C (p.Ser3104Pro) c.7714T>C (p.Ser2572Pro) n.9850T>C | |
6 | g.51748042A>T | CA364420775 | PKHD1 | c.9574T>A (p.Ser3192Thr) c.9445T>A (p.Ser3149Thr) c.9436T>A (p.Ser3146Thr) c.8932T>A (p.Ser2978Thr) c.8863T>A (p.Ser2955Thr) c.3649T>A (p.Ser1217Thr) c.9499T>A (p.Ser3167Thr) c.9379T>A (p.Ser3127Thr) c.9310T>A (p.Ser3104Thr) c.7714T>A (p.Ser2572Thr) n.9850T>A | |
6 | g.51748043A>C | CA364420776 | PKHD1 | c.9573T>G (p.Asn3191Lys) c.9444T>G (p.Asn3148Lys) c.9435T>G (p.Asn3145Lys) c.8931T>G (p.Asn2977Lys) c.8862T>G (p.Asn2954Lys) c.3648T>G (p.Asn1216Lys) c.9498T>G (p.Asn3166Lys) c.9378T>G (p.Asn3126Lys) c.9309T>G (p.Asn3103Lys) c.7713T>G (p.Asn2571Lys) n.9849T>G | |
6 | g.51748043A>G | CA450613745 | PKHD1 | c.9573T>C (p.Asn3191=) c.9444T>C (p.Asn3148=) c.9435T>C (p.Asn3145=) c.8931T>C (p.Asn2977=) c.8862T>C (p.Asn2954=) c.3648T>C (p.Asn1216=) c.9498T>C (p.Asn3166=) c.9378T>C (p.Asn3126=) c.9309T>C (p.Asn3103=) c.7713T>C (p.Asn2571=) n.9849T>C | dbSNP |
6 | g.51748043A>T | CA364420777 | PKHD1 | c.9573T>A (p.Asn3191Lys) c.9444T>A (p.Asn3148Lys) c.9435T>A (p.Asn3145Lys) c.8931T>A (p.Asn2977Lys) c.8862T>A (p.Asn2954Lys) c.3648T>A (p.Asn1216Lys) c.9498T>A (p.Asn3166Lys) c.9378T>A (p.Asn3126Lys) c.9309T>A (p.Asn3103Lys) c.7713T>A (p.Asn2571Lys) n.9849T>A | |
6 | g.51748044T>A | CA364420778 | PKHD1 | c.9572A>T (p.Asn3191Ile) c.9443A>T (p.Asn3148Ile) c.9434A>T (p.Asn3145Ile) c.8930A>T (p.Asn2977Ile) c.8861A>T (p.Asn2954Ile) c.3647A>T (p.Asn1216Ile) c.9497A>T (p.Asn3166Ile) c.9377A>T (p.Asn3126Ile) c.9308A>T (p.Asn3103Ile) c.7712A>T (p.Asn2571Ile) n.9848A>T | |
6 | g.51748044T>C | CA364420779 | PKHD1 | c.9572A>G (p.Asn3191Ser) c.9443A>G (p.Asn3148Ser) c.9434A>G (p.Asn3145Ser) c.8930A>G (p.Asn2977Ser) c.8861A>G (p.Asn2954Ser) c.3647A>G (p.Asn1216Ser) c.9497A>G (p.Asn3166Ser) c.9377A>G (p.Asn3126Ser) c.9308A>G (p.Asn3103Ser) c.7712A>G (p.Asn2571Ser) n.9848A>G | dbSNP |
6 | g.51748044T>G | CA364420780 | PKHD1 | c.9572A>C (p.Asn3191Thr) c.9443A>C (p.Asn3148Thr) c.9434A>C (p.Asn3145Thr) c.8930A>C (p.Asn2977Thr) c.8861A>C (p.Asn2954Thr) c.3647A>C (p.Asn1216Thr) c.9497A>C (p.Asn3166Thr) c.9377A>C (p.Asn3126Thr) c.9308A>C (p.Asn3103Thr) c.7712A>C (p.Asn2571Thr) n.9848A>C | |
6 | g.51748045T>A | CA364420782 | PKHD1 | c.9571A>T (p.Asn3191Tyr) c.9442A>T (p.Asn3148Tyr) c.9433A>T (p.Asn3145Tyr) c.8929A>T (p.Asn2977Tyr) c.8860A>T (p.Asn2954Tyr) c.3646A>T (p.Asn1216Tyr) c.9496A>T (p.Asn3166Tyr) c.9376A>T (p.Asn3126Tyr) c.9307A>T (p.Asn3103Tyr) c.7711A>T (p.Asn2571Tyr) n.9847A>T | |
6 | g.51748045T>C | CA364420781 | PKHD1 | c.9571A>G (p.Asn3191Asp) c.9442A>G (p.Asn3148Asp) c.9433A>G (p.Asn3145Asp) c.8929A>G (p.Asn2977Asp) c.8860A>G (p.Asn2954Asp) c.3646A>G (p.Asn1216Asp) c.9496A>G (p.Asn3166Asp) c.9376A>G (p.Asn3126Asp) c.9307A>G (p.Asn3103Asp) c.7711A>G (p.Asn2571Asp) n.9847A>G | |
6 | g.51748045T>G | CA3851369 | PKHD1 | c.9571A>C (p.Asn3191His) c.9442A>C (p.Asn3148His) c.9433A>C (p.Asn3145His) c.8929A>C (p.Asn2977His) c.8860A>C (p.Asn2954His) c.3646A>C (p.Asn1216His) c.9496A>C (p.Asn3166His) c.9376A>C (p.Asn3126His) c.9307A>C (p.Asn3103His) c.7711A>C (p.Asn2571His) n.9847A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748045T= | CA1628502383 | PKHD1 | c.9571A= (p.Asn3191=) c.9442A= (p.Asn3148=) c.9433A= (p.Asn3145=) c.8929A= (p.Asn2977=) c.8860A= (p.Asn2954=) c.3646A= (p.Asn1216=) c.9496A= (p.Asn3166=) c.9376A= (p.Asn3126=) c.9307A= (p.Asn3103=) c.7711A= (p.Asn2571=) n.9847A= | |
6 | g.51748046T>A | CA364420784 | PKHD1 | c.9570A>T (p.Gln3190His) c.9441A>T (p.Gln3147His) c.9432A>T (p.Gln3144His) c.8928A>T (p.Gln2976His) c.8859A>T (p.Gln2953His) c.3645A>T (p.Gln1215His) c.9495A>T (p.Gln3165His) c.9375A>T (p.Gln3125His) c.9306A>T (p.Gln3102His) c.7710A>T (p.Gln2570His) n.9846A>T | gnomAD v4 |
6 | g.51748046T>C | CA450613366 | PKHD1 | c.9570A>G (p.Gln3190=) c.9441A>G (p.Gln3147=) c.9432A>G (p.Gln3144=) c.8928A>G (p.Gln2976=) c.8859A>G (p.Gln2953=) c.3645A>G (p.Gln1215=) c.9495A>G (p.Gln3165=) c.9375A>G (p.Gln3125=) c.9306A>G (p.Gln3102=) c.7710A>G (p.Gln2570=) n.9846A>G | |
6 | g.51748046T>G | CA364420783 | PKHD1 | c.9570A>C (p.Gln3190His) c.9441A>C (p.Gln3147His) c.9432A>C (p.Gln3144His) c.8928A>C (p.Gln2976His) c.8859A>C (p.Gln2953His) c.3645A>C (p.Gln1215His) c.9495A>C (p.Gln3165His) c.9375A>C (p.Gln3125His) c.9306A>C (p.Gln3102His) c.7710A>C (p.Gln2570His) n.9846A>C | |
6 | g.51748046_51748047insAACAC | CA2512744512 | PKHD1 | c.9569_9570insGTGTT (p.Asn3191CysfsTer2) c.9440_9441insGTGTT (p.Asn3148CysfsTer2) c.9431_9432insGTGTT (p.Asn3145CysfsTer2) c.8927_8928insGTGTT (p.Asn2977CysfsTer2) c.8858_8859insGTGTT (p.Asn2954CysfsTer2) c.3644_3645insGTGTT (p.Asn1216CysfsTer2) c.9494_9495insGTGTT (p.Asn3166CysfsTer2) c.9374_9375insGTGTT (p.Asn3126CysfsTer2) c.9305_9306insGTGTT (p.Asn3103CysfsTer2) c.7709_7710insGTGTT (p.Asn2571CysfsTer2) n.9845_9846insGTGTT | |
6 | g.51748047T>A | CA364420785 | PKHD1 | c.9569A>T (p.Gln3190Leu) c.9440A>T (p.Gln3147Leu) c.9431A>T (p.Gln3144Leu) c.8927A>T (p.Gln2976Leu) c.8858A>T (p.Gln2953Leu) c.3644A>T (p.Gln1215Leu) c.9494A>T (p.Gln3165Leu) c.9374A>T (p.Gln3125Leu) c.9305A>T (p.Gln3102Leu) c.7709A>T (p.Gln2570Leu) n.9845A>T | |
6 | g.51748047T>C | CA364420786 | PKHD1 | c.9569A>G (p.Gln3190Arg) c.9440A>G (p.Gln3147Arg) c.9431A>G (p.Gln3144Arg) c.8927A>G (p.Gln2976Arg) c.8858A>G (p.Gln2953Arg) c.3644A>G (p.Gln1215Arg) c.9494A>G (p.Gln3165Arg) c.9374A>G (p.Gln3125Arg) c.9305A>G (p.Gln3102Arg) c.7709A>G (p.Gln2570Arg) n.9845A>G | |
6 | g.51748047T>G | CA364420787 | PKHD1 | c.9569A>C (p.Gln3190Pro) c.9440A>C (p.Gln3147Pro) c.9431A>C (p.Gln3144Pro) c.8927A>C (p.Gln2976Pro) c.8858A>C (p.Gln2953Pro) c.3644A>C (p.Gln1215Pro) c.9494A>C (p.Gln3165Pro) c.9374A>C (p.Gln3125Pro) c.9305A>C (p.Gln3102Pro) c.7709A>C (p.Gln2570Pro) n.9845A>C | |
6 | g.51748048G>A | CA364420788 | PKHD1 | c.9568C>T (p.Gln3190Ter) c.9439C>T (p.Gln3147Ter) c.9430C>T (p.Gln3144Ter) c.8926C>T (p.Gln2976Ter) c.8857C>T (p.Gln2953Ter) c.3643C>T (p.Gln1215Ter) c.9493C>T (p.Gln3165Ter) c.9373C>T (p.Gln3125Ter) c.9304C>T (p.Gln3102Ter) c.7708C>T (p.Gln2570Ter) n.9844C>T | ClinVar |
6 | g.51748048G>C | CA364420789 | PKHD1 | c.9568C>G (p.Gln3190Glu) c.9439C>G (p.Gln3147Glu) c.9430C>G (p.Gln3144Glu) c.8926C>G (p.Gln2976Glu) c.8857C>G (p.Gln2953Glu) c.3643C>G (p.Gln1215Glu) c.9493C>G (p.Gln3165Glu) c.9373C>G (p.Gln3125Glu) c.9304C>G (p.Gln3102Glu) c.7708C>G (p.Gln2570Glu) n.9844C>G | |
6 | g.51748048G>T | CA364420790 | PKHD1 | c.9568C>A (p.Gln3190Lys) c.9439C>A (p.Gln3147Lys) c.9430C>A (p.Gln3144Lys) c.8926C>A (p.Gln2976Lys) c.8857C>A (p.Gln2953Lys) c.3643C>A (p.Gln1215Lys) c.9493C>A (p.Gln3165Lys) c.9373C>A (p.Gln3125Lys) c.9304C>A (p.Gln3102Lys) c.7708C>A (p.Gln2570Lys) n.9844C>A | |
6 | g.51748049T>A | CA450613373 | PKHD1 | c.9567A>T (p.Pro3189=) c.9438A>T (p.Pro3146=) c.9429A>T (p.Pro3143=) c.8925A>T (p.Pro2975=) c.8856A>T (p.Pro2952=) c.3642A>T (p.Pro1214=) c.9492A>T (p.Pro3164=) c.9372A>T (p.Pro3124=) c.9303A>T (p.Pro3101=) c.7707A>T (p.Pro2569=) n.9843A>T | ClinVar |
6 | g.51748049T>C | CA450613368 | PKHD1 | c.9567A>G (p.Pro3189=) c.9438A>G (p.Pro3146=) c.9429A>G (p.Pro3143=) c.8925A>G (p.Pro2975=) c.8856A>G (p.Pro2952=) c.3642A>G (p.Pro1214=) c.9492A>G (p.Pro3164=) c.9372A>G (p.Pro3124=) c.9303A>G (p.Pro3101=) c.7707A>G (p.Pro2569=) n.9843A>G | |
6 | g.51748049T>G | CA450613369 | PKHD1 | c.9567A>C (p.Pro3189=) c.9438A>C (p.Pro3146=) c.9429A>C (p.Pro3143=) c.8925A>C (p.Pro2975=) c.8856A>C (p.Pro2952=) c.3642A>C (p.Pro1214=) c.9492A>C (p.Pro3164=) c.9372A>C (p.Pro3124=) c.9303A>C (p.Pro3101=) c.7707A>C (p.Pro2569=) n.9843A>C | |
6 | g.51748050G>A | CA364420791 | PKHD1 | c.9566C>T (p.Pro3189Leu) c.9437C>T (p.Pro3146Leu) c.9428C>T (p.Pro3143Leu) c.8924C>T (p.Pro2975Leu) c.8855C>T (p.Pro2952Leu) c.3641C>T (p.Pro1214Leu) c.9491C>T (p.Pro3164Leu) c.9371C>T (p.Pro3124Leu) c.9302C>T (p.Pro3101Leu) c.7706C>T (p.Pro2569Leu) n.9842C>T | |
6 | g.51748050G>C | CA364420792 | PKHD1 | c.9566C>G (p.Pro3189Arg) c.9437C>G (p.Pro3146Arg) c.9428C>G (p.Pro3143Arg) c.8924C>G (p.Pro2975Arg) c.8855C>G (p.Pro2952Arg) c.3641C>G (p.Pro1214Arg) c.9491C>G (p.Pro3164Arg) c.9371C>G (p.Pro3124Arg) c.9302C>G (p.Pro3101Arg) c.7706C>G (p.Pro2569Arg) n.9842C>G | |
6 | g.51748050G>T | CA364420793 | PKHD1 | c.9566C>A (p.Pro3189Gln) c.9437C>A (p.Pro3146Gln) c.9428C>A (p.Pro3143Gln) c.8924C>A (p.Pro2975Gln) c.8855C>A (p.Pro2952Gln) c.3641C>A (p.Pro1214Gln) c.9491C>A (p.Pro3164Gln) c.9371C>A (p.Pro3124Gln) c.9302C>A (p.Pro3101Gln) c.7706C>A (p.Pro2569Gln) n.9842C>A | |
6 | g.51748051G>A | CA364420794 | PKHD1 | c.9565C>T (p.Pro3189Ser) c.9436C>T (p.Pro3146Ser) c.9427C>T (p.Pro3143Ser) c.8923C>T (p.Pro2975Ser) c.8854C>T (p.Pro2952Ser) c.3640C>T (p.Pro1214Ser) c.9490C>T (p.Pro3164Ser) c.9370C>T (p.Pro3124Ser) c.9301C>T (p.Pro3101Ser) c.7705C>T (p.Pro2569Ser) n.9841C>T | |
6 | g.51748051G>C | CA364420795 | PKHD1 | c.9565C>G (p.Pro3189Ala) c.9436C>G (p.Pro3146Ala) c.9427C>G (p.Pro3143Ala) c.8923C>G (p.Pro2975Ala) c.8854C>G (p.Pro2952Ala) c.3640C>G (p.Pro1214Ala) c.9490C>G (p.Pro3164Ala) c.9370C>G (p.Pro3124Ala) c.9301C>G (p.Pro3101Ala) c.7705C>G (p.Pro2569Ala) n.9841C>G | |
6 | g.51748051G>T | CA364420796 | PKHD1 | c.9565C>A (p.Pro3189Thr) c.9436C>A (p.Pro3146Thr) c.9427C>A (p.Pro3143Thr) c.8923C>A (p.Pro2975Thr) c.8854C>A (p.Pro2952Thr) c.3640C>A (p.Pro1214Thr) c.9490C>A (p.Pro3164Thr) c.9370C>A (p.Pro3124Thr) c.9301C>A (p.Pro3101Thr) c.7705C>A (p.Pro2569Thr) n.9841C>A | |
6 | g.51748052A>C | CA450613376 | PKHD1 | c.9564T>G (p.Ala3188=) c.9435T>G (p.Ala3145=) c.9426T>G (p.Ala3142=) c.8922T>G (p.Ala2974=) c.8853T>G (p.Ala2951=) c.3639T>G (p.Ala1213=) c.9489T>G (p.Ala3163=) c.9369T>G (p.Ala3123=) c.9300T>G (p.Ala3100=) c.7704T>G (p.Ala2568=) n.9840T>G | |
6 | g.51748052A>G | CA450613378 | PKHD1 | c.9564T>C (p.Ala3188=) c.9435T>C (p.Ala3145=) c.9426T>C (p.Ala3142=) c.8922T>C (p.Ala2974=) c.8853T>C (p.Ala2951=) c.3639T>C (p.Ala1213=) c.9489T>C (p.Ala3163=) c.9369T>C (p.Ala3123=) c.9300T>C (p.Ala3100=) c.7704T>C (p.Ala2568=) n.9840T>C | |
6 | g.51748052A>T | CA450613377 | PKHD1 | c.9564T>A (p.Ala3188=) c.9435T>A (p.Ala3145=) c.9426T>A (p.Ala3142=) c.8922T>A (p.Ala2974=) c.8853T>A (p.Ala2951=) c.3639T>A (p.Ala1213=) c.9489T>A (p.Ala3163=) c.9369T>A (p.Ala3123=) c.9300T>A (p.Ala3100=) c.7704T>A (p.Ala2568=) n.9840T>A | |
6 | g.51748053G>A | CA3851370 | PKHD1 | c.9563C>T (p.Ala3188Val) c.9434C>T (p.Ala3145Val) c.9425C>T (p.Ala3142Val) c.8921C>T (p.Ala2974Val) c.8852C>T (p.Ala2951Val) c.3638C>T (p.Ala1213Val) c.9488C>T (p.Ala3163Val) c.9368C>T (p.Ala3123Val) c.9299C>T (p.Ala3100Val) c.7703C>T (p.Ala2568Val) n.9839C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748053G>C | CA364420797 | PKHD1 | c.9563C>G (p.Ala3188Gly) c.9434C>G (p.Ala3145Gly) c.9425C>G (p.Ala3142Gly) c.8921C>G (p.Ala2974Gly) c.8852C>G (p.Ala2951Gly) c.3638C>G (p.Ala1213Gly) c.9488C>G (p.Ala3163Gly) c.9368C>G (p.Ala3123Gly) c.9299C>G (p.Ala3100Gly) c.7703C>G (p.Ala2568Gly) n.9839C>G | |
6 | g.51748053G= | CA1628502388 | PKHD1 | c.9563C= (p.Ala3188=) c.9434C= (p.Ala3145=) c.9425C= (p.Ala3142=) c.8921C= (p.Ala2974=) c.8852C= (p.Ala2951=) c.3638C= (p.Ala1213=) c.9488C= (p.Ala3163=) c.9368C= (p.Ala3123=) c.9299C= (p.Ala3100=) c.7703C= (p.Ala2568=) n.9839C= | |
6 | g.51748053G>T | CA364420798 | PKHD1 | c.9563C>A (p.Ala3188Asp) c.9434C>A (p.Ala3145Asp) c.9425C>A (p.Ala3142Asp) c.8921C>A (p.Ala2974Asp) c.8852C>A (p.Ala2951Asp) c.3638C>A (p.Ala1213Asp) c.9488C>A (p.Ala3163Asp) c.9368C>A (p.Ala3123Asp) c.9299C>A (p.Ala3100Asp) c.7703C>A (p.Ala2568Asp) n.9839C>A | |
6 | g.51748054C>A | CA138896039 | PKHD1 | c.9562G>T (p.Ala3188Ser) c.9433G>T (p.Ala3145Ser) c.9424G>T (p.Ala3142Ser) c.8920G>T (p.Ala2974Ser) c.8851G>T (p.Ala2951Ser) c.3637G>T (p.Ala1213Ser) c.9487G>T (p.Ala3163Ser) c.9367G>T (p.Ala3123Ser) c.9298G>T (p.Ala3100Ser) c.7702G>T (p.Ala2568Ser) n.9838G>T | dbSNP COSMIC COSMIC |
6 | g.51748054C= | CA1628502391 | PKHD1 | c.9562G= (p.Ala3188=) c.9433G= (p.Ala3145=) c.9424G= (p.Ala3142=) c.8920G= (p.Ala2974=) c.8851G= (p.Ala2951=) c.3637G= (p.Ala1213=) c.9487G= (p.Ala3163=) c.9367G= (p.Ala3123=) c.9298G= (p.Ala3100=) c.7702G= (p.Ala2568=) n.9838G= | |
6 | g.51748054C>G | CA3851371 | PKHD1 | c.9562G>C (p.Ala3188Pro) c.9433G>C (p.Ala3145Pro) c.9424G>C (p.Ala3142Pro) c.8920G>C (p.Ala2974Pro) c.8851G>C (p.Ala2951Pro) c.3637G>C (p.Ala1213Pro) c.9487G>C (p.Ala3163Pro) c.9367G>C (p.Ala3123Pro) c.9298G>C (p.Ala3100Pro) c.7702G>C (p.Ala2568Pro) n.9838G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748054C>T | CA3851372 | PKHD1 | c.9562G>A (p.Ala3188Thr) c.9433G>A (p.Ala3145Thr) c.9424G>A (p.Ala3142Thr) c.8920G>A (p.Ala2974Thr) c.8851G>A (p.Ala2951Thr) c.3637G>A (p.Ala1213Thr) c.9487G>A (p.Ala3163Thr) c.9367G>A (p.Ala3123Thr) c.9298G>A (p.Ala3100Thr) c.7702G>A (p.Ala2568Thr) n.9838G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748055A= | CA1628502394 | PKHD1 | c.9561T= (p.Ser3187=) c.9432T= (p.Ser3144=) c.9423T= (p.Ser3141=) c.8919T= (p.Ser2973=) c.8850T= (p.Ser2950=) c.3636T= (p.Ser1212=) c.9486T= (p.Ser3162=) c.9366T= (p.Ser3122=) c.9297T= (p.Ser3099=) c.7701T= (p.Ser2567=) n.9837T= | |
6 | g.51748055A>C | CA450613380 | PKHD1 | c.9561T>G (p.Ser3187=) c.9432T>G (p.Ser3144=) c.9423T>G (p.Ser3141=) c.8919T>G (p.Ser2973=) c.8850T>G (p.Ser2950=) c.3636T>G (p.Ser1212=) c.9486T>G (p.Ser3162=) c.9366T>G (p.Ser3122=) c.9297T>G (p.Ser3099=) c.7701T>G (p.Ser2567=) n.9837T>G | |
6 | g.51748055A>G | CA450613381 | PKHD1 | c.9561T>C (p.Ser3187=) c.9432T>C (p.Ser3144=) c.9423T>C (p.Ser3141=) c.8919T>C (p.Ser2973=) c.8850T>C (p.Ser2950=) c.3636T>C (p.Ser1212=) c.9486T>C (p.Ser3162=) c.9366T>C (p.Ser3122=) c.9297T>C (p.Ser3099=) c.7701T>C (p.Ser2567=) n.9837T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748055A>T | CA450613384 | PKHD1 | c.9561T>A (p.Ser3187=) c.9432T>A (p.Ser3144=) c.9423T>A (p.Ser3141=) c.8919T>A (p.Ser2973=) c.8850T>A (p.Ser2950=) c.3636T>A (p.Ser1212=) c.9486T>A (p.Ser3162=) c.9366T>A (p.Ser3122=) c.9297T>A (p.Ser3099=) c.7701T>A (p.Ser2567=) n.9837T>A | |
6 | g.51748055_51748056delinsAG | CA1628502396 | PKHD1 | c.9560_9561delinsCT (p.Ser3187=) c.9431_9432delinsCT (p.Ser3144=) c.9422_9423delinsCT (p.Ser3141=) c.8918_8919delinsCT (p.Ser2973=) c.8849_8850delinsCT (p.Ser2950=) c.3635_3636delinsCT (p.Ser1212=) c.9485_9486delinsCT (p.Ser3162=) c.9365_9366delinsCT (p.Ser3122=) c.9296_9297delinsCT (p.Ser3099=) c.7700_7701delinsCT (p.Ser2567=) n.9836_9837delinsCT | |
6 | g.51748056del | CA891862705 | PKHD1 | c.9560del (p.Ser3187LeufsTer?) c.9431del (p.Ser3144LeufsTer?) c.9422del (p.Ser3141LeufsTer?) c.8918del (p.Ser2973LeufsTer?) c.8849del (p.Ser2950LeufsTer?) c.3635del (p.Ser1212LeufsTer?) c.9485del (p.Ser3162LeufsTer?) c.9365del (p.Ser3122LeufsTer?) c.9296del (p.Ser3099LeufsTer?) c.7700del (p.Ser2567LeufsTer?) n.9836del | ClinVar dbSNP |
6 | g.51748056G>A | CA364420799 | PKHD1 | c.9560C>T (p.Ser3187Phe) c.9431C>T (p.Ser3144Phe) c.9422C>T (p.Ser3141Phe) c.8918C>T (p.Ser2973Phe) c.8849C>T (p.Ser2950Phe) c.3635C>T (p.Ser1212Phe) c.9485C>T (p.Ser3162Phe) c.9365C>T (p.Ser3122Phe) c.9296C>T (p.Ser3099Phe) c.7700C>T (p.Ser2567Phe) n.9836C>T | |
6 | g.51748056G>C | CA364420800 | PKHD1 | c.9560C>G (p.Ser3187Cys) c.9431C>G (p.Ser3144Cys) c.9422C>G (p.Ser3141Cys) c.8918C>G (p.Ser2973Cys) c.8849C>G (p.Ser2950Cys) c.3635C>G (p.Ser1212Cys) c.9485C>G (p.Ser3162Cys) c.9365C>G (p.Ser3122Cys) c.9296C>G (p.Ser3099Cys) c.7700C>G (p.Ser2567Cys) n.9836C>G | gnomAD v4 |
6 | g.51748056G= | CA1628502407 | PKHD1 | c.9560C= (p.Ser3187=) c.9431C= (p.Ser3144=) c.9422C= (p.Ser3141=) c.8918C= (p.Ser2973=) c.8849C= (p.Ser2950=) c.3635C= (p.Ser1212=) c.9485C= (p.Ser3162=) c.9365C= (p.Ser3122=) c.9296C= (p.Ser3099=) c.7700C= (p.Ser2567=) n.9836C= | |
6 | g.51748056G>T | CA138896065 | PKHD1 | c.9560C>A (p.Ser3187Tyr) c.9431C>A (p.Ser3144Tyr) c.9422C>A (p.Ser3141Tyr) c.8918C>A (p.Ser2973Tyr) c.8849C>A (p.Ser2950Tyr) c.3635C>A (p.Ser1212Tyr) c.9485C>A (p.Ser3162Tyr) c.9365C>A (p.Ser3122Tyr) c.9296C>A (p.Ser3099Tyr) c.7700C>A (p.Ser2567Tyr) n.9836C>A | dbSNP gnomAD v3 COSMIC COSMIC |
6 | g.51748056_51748057delinsGA | CA1628502406 | PKHD1 | c.9559_9560delinsTC (p.Ser3187=) c.9430_9431delinsTC (p.Ser3144=) c.9421_9422delinsTC (p.Ser3141=) c.8917_8918delinsTC (p.Ser2973=) c.8848_8849delinsTC (p.Ser2950=) c.3634_3635delinsTC (p.Ser1212=) c.9484_9485delinsTC (p.Ser3162=) c.9364_9365delinsTC (p.Ser3122=) c.9295_9296delinsTC (p.Ser3099=) c.7699_7700delinsTC (p.Ser2567=) n.9835_9836delinsTC | |
6 | g.51748057A>C | CA364420801 | PKHD1 | c.9559T>G (p.Ser3187Ala) c.9430T>G (p.Ser3144Ala) c.9421T>G (p.Ser3141Ala) c.8917T>G (p.Ser2973Ala) c.8848T>G (p.Ser2950Ala) c.3634T>G (p.Ser1212Ala) c.9484T>G (p.Ser3162Ala) c.9364T>G (p.Ser3122Ala) c.9295T>G (p.Ser3099Ala) c.7699T>G (p.Ser2567Ala) n.9835T>G | |
6 | g.51748057A>G | CA364420802 | PKHD1 | c.9559T>C (p.Ser3187Pro) c.9430T>C (p.Ser3144Pro) c.9421T>C (p.Ser3141Pro) c.8917T>C (p.Ser2973Pro) c.8848T>C (p.Ser2950Pro) c.3634T>C (p.Ser1212Pro) c.9484T>C (p.Ser3162Pro) c.9364T>C (p.Ser3122Pro) c.9295T>C (p.Ser3099Pro) c.7699T>C (p.Ser2567Pro) n.9835T>C | |
6 | g.51748057A>T | CA364420803 | PKHD1 | c.9559T>A (p.Ser3187Thr) c.9430T>A (p.Ser3144Thr) c.9421T>A (p.Ser3141Thr) c.8917T>A (p.Ser2973Thr) c.8848T>A (p.Ser2950Thr) c.3634T>A (p.Ser1212Thr) c.9484T>A (p.Ser3162Thr) c.9364T>A (p.Ser3122Thr) c.9295T>A (p.Ser3099Thr) c.7699T>A (p.Ser2567Thr) n.9835T>A | |
6 | g.51748060del | CA276016 | PKHD1 | c.9559del (p.Ser3187LeufsTer?) c.9430del (p.Ser3144LeufsTer?) c.9421del (p.Ser3141LeufsTer?) c.8917del (p.Ser2973LeufsTer?) c.8848del (p.Ser2950LeufsTer?) c.3634del (p.Ser1212LeufsTer?) c.9484del (p.Ser3162LeufsTer?) c.9364del (p.Ser3122LeufsTer?) c.9295del (p.Ser3099LeufsTer?) c.7699del (p.Ser2567LeufsTer?) n.9835del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748058A>C | CA364420804 | PKHD1 | c.9558T>G (p.Phe3186Leu) c.9429T>G (p.Phe3143Leu) c.9420T>G (p.Phe3140Leu) c.8916T>G (p.Phe2972Leu) c.8847T>G (p.Phe2949Leu) c.3633T>G (p.Phe1211Leu) c.9483T>G (p.Phe3161Leu) c.9363T>G (p.Phe3121Leu) c.9294T>G (p.Phe3098Leu) c.7698T>G (p.Phe2566Leu) n.9834T>G | |
6 | g.51748058A>G | CA450613389 | PKHD1 | c.9558T>C (p.Phe3186=) c.9429T>C (p.Phe3143=) c.9420T>C (p.Phe3140=) c.8916T>C (p.Phe2972=) c.8847T>C (p.Phe2949=) c.3633T>C (p.Phe1211=) c.9483T>C (p.Phe3161=) c.9363T>C (p.Phe3121=) c.9294T>C (p.Phe3098=) c.7698T>C (p.Phe2566=) n.9834T>C | |
6 | g.51748058A>T | CA364420805 | PKHD1 | c.9558T>A (p.Phe3186Leu) c.9429T>A (p.Phe3143Leu) c.9420T>A (p.Phe3140Leu) c.8916T>A (p.Phe2972Leu) c.8847T>A (p.Phe2949Leu) c.3633T>A (p.Phe1211Leu) c.9483T>A (p.Phe3161Leu) c.9363T>A (p.Phe3121Leu) c.9294T>A (p.Phe3098Leu) c.7698T>A (p.Phe2566Leu) n.9834T>A | |
6 | g.51748059A>C | CA364420808 | PKHD1 | c.9557T>G (p.Phe3186Cys) c.9428T>G (p.Phe3143Cys) c.9419T>G (p.Phe3140Cys) c.8915T>G (p.Phe2972Cys) c.8846T>G (p.Phe2949Cys) c.3632T>G (p.Phe1211Cys) c.9482T>G (p.Phe3161Cys) c.9362T>G (p.Phe3121Cys) c.9293T>G (p.Phe3098Cys) c.7697T>G (p.Phe2566Cys) n.9833T>G | |
6 | g.51748059A>G | CA364420807 | PKHD1 | c.9557T>C (p.Phe3186Ser) c.9428T>C (p.Phe3143Ser) c.9419T>C (p.Phe3140Ser) c.8915T>C (p.Phe2972Ser) c.8846T>C (p.Phe2949Ser) c.3632T>C (p.Phe1211Ser) c.9482T>C (p.Phe3161Ser) c.9362T>C (p.Phe3121Ser) c.9293T>C (p.Phe3098Ser) c.7697T>C (p.Phe2566Ser) n.9833T>C | |
6 | g.51748059A>T | CA364420806 | PKHD1 | c.9557T>A (p.Phe3186Tyr) c.9428T>A (p.Phe3143Tyr) c.9419T>A (p.Phe3140Tyr) c.8915T>A (p.Phe2972Tyr) c.8846T>A (p.Phe2949Tyr) c.3632T>A (p.Phe1211Tyr) c.9482T>A (p.Phe3161Tyr) c.9362T>A (p.Phe3121Tyr) c.9293T>A (p.Phe3098Tyr) c.7697T>A (p.Phe2566Tyr) n.9833T>A | |
6 | g.51748060A>C | CA364420809 | PKHD1 | c.9556T>G (p.Phe3186Val) c.9427T>G (p.Phe3143Val) c.9418T>G (p.Phe3140Val) c.8914T>G (p.Phe2972Val) c.8845T>G (p.Phe2949Val) c.3631T>G (p.Phe1211Val) c.9481T>G (p.Phe3161Val) c.9361T>G (p.Phe3121Val) c.9292T>G (p.Phe3098Val) c.7696T>G (p.Phe2566Val) n.9832T>G | |
6 | g.51748060A>G | CA364420811 | PKHD1 | c.9556T>C (p.Phe3186Leu) c.9427T>C (p.Phe3143Leu) c.9418T>C (p.Phe3140Leu) c.8914T>C (p.Phe2972Leu) c.8845T>C (p.Phe2949Leu) c.3631T>C (p.Phe1211Leu) c.9481T>C (p.Phe3161Leu) c.9361T>C (p.Phe3121Leu) c.9292T>C (p.Phe3098Leu) c.7696T>C (p.Phe2566Leu) n.9832T>C | |
6 | g.51748060A>T | CA364420810 | PKHD1 | c.9556T>A (p.Phe3186Ile) c.9427T>A (p.Phe3143Ile) c.9418T>A (p.Phe3140Ile) c.8914T>A (p.Phe2972Ile) c.8845T>A (p.Phe2949Ile) c.3631T>A (p.Phe1211Ile) c.9481T>A (p.Phe3161Ile) c.9361T>A (p.Phe3121Ile) c.9292T>A (p.Phe3098Ile) c.7696T>A (p.Phe2566Ile) n.9832T>A | |
6 | g.51748061T>A | CA450613393 | PKHD1 | c.9555A>T (p.Val3185=) c.9426A>T (p.Val3142=) c.9417A>T (p.Val3139=) c.8913A>T (p.Val2971=) c.8844A>T (p.Val2948=) c.3630A>T (p.Val1210=) c.9480A>T (p.Val3160=) c.9360A>T (p.Val3120=) c.9291A>T (p.Val3097=) c.7695A>T (p.Val2565=) n.9831A>T | |
6 | g.51748061T>C | CA450613395 | PKHD1 | c.9555A>G (p.Val3185=) c.9426A>G (p.Val3142=) c.9417A>G (p.Val3139=) c.8913A>G (p.Val2971=) c.8844A>G (p.Val2948=) c.3630A>G (p.Val1210=) c.9480A>G (p.Val3160=) c.9360A>G (p.Val3120=) c.9291A>G (p.Val3097=) c.7695A>G (p.Val2565=) n.9831A>G | |
6 | g.51748061T>G | CA450613396 | PKHD1 | c.9555A>C (p.Val3185=) c.9426A>C (p.Val3142=) c.9417A>C (p.Val3139=) c.8913A>C (p.Val2971=) c.8844A>C (p.Val2948=) c.3630A>C (p.Val1210=) c.9480A>C (p.Val3160=) c.9360A>C (p.Val3120=) c.9291A>C (p.Val3097=) c.7695A>C (p.Val2565=) n.9831A>C | |
6 | g.51748062A>C | CA364420812 | PKHD1 | c.9554T>G (p.Val3185Gly) c.9425T>G (p.Val3142Gly) c.9416T>G (p.Val3139Gly) c.8912T>G (p.Val2971Gly) c.8843T>G (p.Val2948Gly) c.3629T>G (p.Val1210Gly) c.9479T>G (p.Val3160Gly) c.9359T>G (p.Val3120Gly) c.9290T>G (p.Val3097Gly) c.7694T>G (p.Val2565Gly) n.9830T>G | |
6 | g.51748062A>G | CA364420813 | PKHD1 | c.9554T>C (p.Val3185Ala) c.9425T>C (p.Val3142Ala) c.9416T>C (p.Val3139Ala) c.8912T>C (p.Val2971Ala) c.8843T>C (p.Val2948Ala) c.3629T>C (p.Val1210Ala) c.9479T>C (p.Val3160Ala) c.9359T>C (p.Val3120Ala) c.9290T>C (p.Val3097Ala) c.7694T>C (p.Val2565Ala) n.9830T>C | gnomAD v4 |
6 | g.51748062A>T | CA364420814 | PKHD1 | c.9554T>A (p.Val3185Glu) c.9425T>A (p.Val3142Glu) c.9416T>A (p.Val3139Glu) c.8912T>A (p.Val2971Glu) c.8843T>A (p.Val2948Glu) c.3629T>A (p.Val1210Glu) c.9479T>A (p.Val3160Glu) c.9359T>A (p.Val3120Glu) c.9290T>A (p.Val3097Glu) c.7694T>A (p.Val2565Glu) n.9830T>A | |
6 | g.51748063C>A | CA364420815 | PKHD1 | c.9553G>T (p.Val3185Leu) c.9424G>T (p.Val3142Leu) c.9415G>T (p.Val3139Leu) c.8911G>T (p.Val2971Leu) c.8842G>T (p.Val2948Leu) c.3628G>T (p.Val1210Leu) c.9478G>T (p.Val3160Leu) c.9358G>T (p.Val3120Leu) c.9289G>T (p.Val3097Leu) c.7693G>T (p.Val2565Leu) n.9829G>T | |
6 | g.51748063C= | CA1628502420 | PKHD1 | c.9553G= (p.Val3185=) c.9424G= (p.Val3142=) c.9415G= (p.Val3139=) c.8911G= (p.Val2971=) c.8842G= (p.Val2948=) c.3628G= (p.Val1210=) c.9478G= (p.Val3160=) c.9358G= (p.Val3120=) c.9289G= (p.Val3097=) c.7693G= (p.Val2565=) n.9829G= | |
6 | g.51748063C>G | CA364420816 | PKHD1 | c.9553G>C (p.Val3185Leu) c.9424G>C (p.Val3142Leu) c.9415G>C (p.Val3139Leu) c.8911G>C (p.Val2971Leu) c.8842G>C (p.Val2948Leu) c.3628G>C (p.Val1210Leu) c.9478G>C (p.Val3160Leu) c.9358G>C (p.Val3120Leu) c.9289G>C (p.Val3097Leu) c.7693G>C (p.Val2565Leu) n.9829G>C | |
6 | g.51748063C>T | CA3851373 | PKHD1 | c.9553G>A (p.Val3185Ile) c.9424G>A (p.Val3142Ile) c.9415G>A (p.Val3139Ile) c.8911G>A (p.Val2971Ile) c.8842G>A (p.Val2948Ile) c.3628G>A (p.Val1210Ile) c.9478G>A (p.Val3160Ile) c.9358G>A (p.Val3120Ile) c.9289G>A (p.Val3097Ile) c.7693G>A (p.Val2565Ile) n.9829G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748064A= | CA1628502429 | PKHD1 | c.9552T= (p.Tyr3184=) c.9423T= (p.Tyr3141=) c.9414T= (p.Tyr3138=) c.8910T= (p.Tyr2970=) c.8841T= (p.Tyr2947=) c.3627T= (p.Tyr1209=) c.9477T= (p.Tyr3159=) c.9357T= (p.Tyr3119=) c.9288T= (p.Tyr3096=) c.7692T= (p.Tyr2564=) n.9828T= | |
6 | g.51748064A>C | CA364420817 | PKHD1 | c.9552T>G (p.Tyr3184Ter) c.9423T>G (p.Tyr3141Ter) c.9414T>G (p.Tyr3138Ter) c.8910T>G (p.Tyr2970Ter) c.8841T>G (p.Tyr2947Ter) c.3627T>G (p.Tyr1209Ter) c.9477T>G (p.Tyr3159Ter) c.9357T>G (p.Tyr3119Ter) c.9288T>G (p.Tyr3096Ter) c.7692T>G (p.Tyr2564Ter) n.9828T>G | ClinVar |
6 | g.51748064A>G | CA450613400 | PKHD1 | c.9552T>C (p.Tyr3184=) c.9423T>C (p.Tyr3141=) c.9414T>C (p.Tyr3138=) c.8910T>C (p.Tyr2970=) c.8841T>C (p.Tyr2947=) c.3627T>C (p.Tyr1209=) c.9477T>C (p.Tyr3159=) c.9357T>C (p.Tyr3119=) c.9288T>C (p.Tyr3096=) c.7692T>C (p.Tyr2564=) n.9828T>C | |
6 | g.51748064A>T | CA364420818 | PKHD1 | c.9552T>A (p.Tyr3184Ter) c.9423T>A (p.Tyr3141Ter) c.9414T>A (p.Tyr3138Ter) c.8910T>A (p.Tyr2970Ter) c.8841T>A (p.Tyr2947Ter) c.3627T>A (p.Tyr1209Ter) c.9477T>A (p.Tyr3159Ter) c.9357T>A (p.Tyr3119Ter) c.9288T>A (p.Tyr3096Ter) c.7692T>A (p.Tyr2564Ter) n.9828T>A | |
6 | g.51748065T>A | CA364420819 | PKHD1 | c.9551A>T (p.Tyr3184Phe) c.9422A>T (p.Tyr3141Phe) c.9413A>T (p.Tyr3138Phe) c.8909A>T (p.Tyr2970Phe) c.8840A>T (p.Tyr2947Phe) c.3626A>T (p.Tyr1209Phe) c.9476A>T (p.Tyr3159Phe) c.9356A>T (p.Tyr3119Phe) c.9287A>T (p.Tyr3096Phe) c.7691A>T (p.Tyr2564Phe) n.9827A>T | gnomAD v4 |
6 | g.51748065T>C | CA364420820 | PKHD1 | c.9551A>G (p.Tyr3184Cys) c.9422A>G (p.Tyr3141Cys) c.9413A>G (p.Tyr3138Cys) c.8909A>G (p.Tyr2970Cys) c.8840A>G (p.Tyr2947Cys) c.3626A>G (p.Tyr1209Cys) c.9476A>G (p.Tyr3159Cys) c.9356A>G (p.Tyr3119Cys) c.9287A>G (p.Tyr3096Cys) c.7691A>G (p.Tyr2564Cys) n.9827A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748065T>G | CA364420821 | PKHD1 | c.9551A>C (p.Tyr3184Ser) c.9422A>C (p.Tyr3141Ser) c.9413A>C (p.Tyr3138Ser) c.8909A>C (p.Tyr2970Ser) c.8840A>C (p.Tyr2947Ser) c.3626A>C (p.Tyr1209Ser) c.9476A>C (p.Tyr3159Ser) c.9356A>C (p.Tyr3119Ser) c.9287A>C (p.Tyr3096Ser) c.7691A>C (p.Tyr2564Ser) n.9827A>C | |
6 | g.51748065T= | CA1628502431 | PKHD1 | c.9551A= (p.Tyr3184=) c.9422A= (p.Tyr3141=) c.9413A= (p.Tyr3138=) c.8909A= (p.Tyr2970=) c.8840A= (p.Tyr2947=) c.3626A= (p.Tyr1209=) c.9476A= (p.Tyr3159=) c.9356A= (p.Tyr3119=) c.9287A= (p.Tyr3096=) c.7691A= (p.Tyr2564=) n.9827A= | |
6 | g.51748065_51748067dup | CA1628502430 | PKHD1 | c.9549_9551dup (p.Tyr3184Ter) c.9420_9422dup (p.Tyr3141Ter) c.9411_9413dup (p.Tyr3138Ter) c.8907_8909dup (p.Tyr2970Ter) c.8838_8840dup (p.Tyr2947Ter) c.3624_3626dup (p.Tyr1209Ter) c.9474_9476dup (p.Tyr3159Ter) c.9354_9356dup (p.Tyr3119Ter) c.9285_9287dup (p.Tyr3096Ter) c.7689_7691dup (p.Tyr2564Ter) n.9825_9827dup | dbSNP |
6 | g.51748066A>C | CA364420824 | PKHD1 | c.9550T>G (p.Tyr3184Asp) c.9421T>G (p.Tyr3141Asp) c.9412T>G (p.Tyr3138Asp) c.8908T>G (p.Tyr2970Asp) c.8839T>G (p.Tyr2947Asp) c.3625T>G (p.Tyr1209Asp) c.9475T>G (p.Tyr3159Asp) c.9355T>G (p.Tyr3119Asp) c.9286T>G (p.Tyr3096Asp) c.7690T>G (p.Tyr2564Asp) n.9826T>G | |
6 | g.51748066A>G | CA364420822 | PKHD1 | c.9550T>C (p.Tyr3184His) c.9421T>C (p.Tyr3141His) c.9412T>C (p.Tyr3138His) c.8908T>C (p.Tyr2970His) c.8839T>C (p.Tyr2947His) c.3625T>C (p.Tyr1209His) c.9475T>C (p.Tyr3159His) c.9355T>C (p.Tyr3119His) c.9286T>C (p.Tyr3096His) c.7690T>C (p.Tyr2564His) n.9826T>C | |
6 | g.51748066A>T | CA364420823 | PKHD1 | c.9550T>A (p.Tyr3184Asn) c.9421T>A (p.Tyr3141Asn) c.9412T>A (p.Tyr3138Asn) c.8908T>A (p.Tyr2970Asn) c.8839T>A (p.Tyr2947Asn) c.3625T>A (p.Tyr1209Asn) c.9475T>A (p.Tyr3159Asn) c.9355T>A (p.Tyr3119Asn) c.9286T>A (p.Tyr3096Asn) c.7690T>A (p.Tyr2564Asn) n.9826T>A | |
6 | g.51748067C>A | CA450613407 | PKHD1 | c.9549G>T (p.Val3183=) c.9420G>T (p.Val3140=) c.9411G>T (p.Val3137=) c.8907G>T (p.Val2969=) c.8838G>T (p.Val2946=) c.3624G>T (p.Val1208=) c.9474G>T (p.Val3158=) c.9354G>T (p.Val3118=) c.9285G>T (p.Val3095=) c.7689G>T (p.Val2563=) n.9825G>T | |
6 | g.51748067C= | CA1628502436 | PKHD1 | c.9549G= (p.Val3183=) c.9420G= (p.Val3140=) c.9411G= (p.Val3137=) c.8907G= (p.Val2969=) c.8838G= (p.Val2946=) c.3624G= (p.Val1208=) c.9474G= (p.Val3158=) c.9354G= (p.Val3118=) c.9285G= (p.Val3095=) c.7689G= (p.Val2563=) n.9825G= | |
6 | g.51748067C>G | CA450613409 | PKHD1 | c.9549G>C (p.Val3183=) c.9420G>C (p.Val3140=) c.9411G>C (p.Val3137=) c.8907G>C (p.Val2969=) c.8838G>C (p.Val2946=) c.3624G>C (p.Val1208=) c.9474G>C (p.Val3158=) c.9354G>C (p.Val3118=) c.9285G>C (p.Val3095=) c.7689G>C (p.Val2563=) n.9825G>C | |
6 | g.51748067C>T | CA3851374 | PKHD1 | c.9549G>A (p.Val3183=) c.9420G>A (p.Val3140=) c.9411G>A (p.Val3137=) c.8907G>A (p.Val2969=) c.8838G>A (p.Val2946=) c.3624G>A (p.Val1208=) c.9474G>A (p.Val3158=) c.9354G>A (p.Val3118=) c.9285G>A (p.Val3095=) c.7689G>A (p.Val2563=) n.9825G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748068A= | CA1628502438 | PKHD1 | c.9548T= (p.Val3183=) c.9419T= (p.Val3140=) c.9410T= (p.Val3137=) c.8906T= (p.Val2969=) c.8837T= (p.Val2946=) c.3623T= (p.Val1208=) c.9473T= (p.Val3158=) c.9353T= (p.Val3118=) c.9284T= (p.Val3095=) c.7688T= (p.Val2563=) n.9824T= | |
6 | g.51748068A>C | CA364420825 | PKHD1 | c.9548T>G (p.Val3183Gly) c.9419T>G (p.Val3140Gly) c.9410T>G (p.Val3137Gly) c.8906T>G (p.Val2969Gly) c.8837T>G (p.Val2946Gly) c.3623T>G (p.Val1208Gly) c.9473T>G (p.Val3158Gly) c.9353T>G (p.Val3118Gly) c.9284T>G (p.Val3095Gly) c.7688T>G (p.Val2563Gly) n.9824T>G | |
6 | g.51748068A>G | CA364420826 | PKHD1 | c.9548T>C (p.Val3183Ala) c.9419T>C (p.Val3140Ala) c.9410T>C (p.Val3137Ala) c.8906T>C (p.Val2969Ala) c.8837T>C (p.Val2946Ala) c.3623T>C (p.Val1208Ala) c.9473T>C (p.Val3158Ala) c.9353T>C (p.Val3118Ala) c.9284T>C (p.Val3095Ala) c.7688T>C (p.Val2563Ala) n.9824T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748068A>T | CA364420827 | PKHD1 | c.9548T>A (p.Val3183Glu) c.9419T>A (p.Val3140Glu) c.9410T>A (p.Val3137Glu) c.8906T>A (p.Val2969Glu) c.8837T>A (p.Val2946Glu) c.3623T>A (p.Val1208Glu) c.9473T>A (p.Val3158Glu) c.9353T>A (p.Val3118Glu) c.9284T>A (p.Val3095Glu) c.7688T>A (p.Val2563Glu) n.9824T>A | |
6 | g.51748069C>A | CA364420828 | PKHD1 | c.9547G>T (p.Val3183Leu) c.9418G>T (p.Val3140Leu) c.9409G>T (p.Val3137Leu) c.8905G>T (p.Val2969Leu) c.8836G>T (p.Val2946Leu) c.3622G>T (p.Val1208Leu) c.9472G>T (p.Val3158Leu) c.9352G>T (p.Val3118Leu) c.9283G>T (p.Val3095Leu) c.7687G>T (p.Val2563Leu) n.9823G>T | |
6 | g.51748069C>G | CA364420829 | PKHD1 | c.9547G>C (p.Val3183Leu) c.9418G>C (p.Val3140Leu) c.9409G>C (p.Val3137Leu) c.8905G>C (p.Val2969Leu) c.8836G>C (p.Val2946Leu) c.3622G>C (p.Val1208Leu) c.9472G>C (p.Val3158Leu) c.9352G>C (p.Val3118Leu) c.9283G>C (p.Val3095Leu) c.7687G>C (p.Val2563Leu) n.9823G>C | |
6 | g.51748069C>T | CA364420830 | PKHD1 | c.9547G>A (p.Val3183Met) c.9418G>A (p.Val3140Met) c.9409G>A (p.Val3137Met) c.8905G>A (p.Val2969Met) c.8836G>A (p.Val2946Met) c.3622G>A (p.Val1208Met) c.9472G>A (p.Val3158Met) c.9352G>A (p.Val3118Met) c.9283G>A (p.Val3095Met) c.7687G>A (p.Val2563Met) n.9823G>A | |
6 | g.51748070T>A | CA450613413 | PKHD1 | c.9546A>T (p.Val3182=) c.9417A>T (p.Val3139=) c.9408A>T (p.Val3136=) c.8904A>T (p.Val2968=) c.8835A>T (p.Val2945=) c.3621A>T (p.Val1207=) c.9471A>T (p.Val3157=) c.9351A>T (p.Val3117=) c.9282A>T (p.Val3094=) c.7686A>T (p.Val2562=) n.9822A>T | |
6 | g.51748070T>C | CA3851375 | PKHD1 | c.9546A>G (p.Val3182=) c.9417A>G (p.Val3139=) c.9408A>G (p.Val3136=) c.8904A>G (p.Val2968=) c.8835A>G (p.Val2945=) c.3621A>G (p.Val1207=) c.9471A>G (p.Val3157=) c.9351A>G (p.Val3117=) c.9282A>G (p.Val3094=) c.7686A>G (p.Val2562=) n.9822A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748070T>G | CA450613414 | PKHD1 | c.9546A>C (p.Val3182=) c.9417A>C (p.Val3139=) c.9408A>C (p.Val3136=) c.8904A>C (p.Val2968=) c.8835A>C (p.Val2945=) c.3621A>C (p.Val1207=) c.9471A>C (p.Val3157=) c.9351A>C (p.Val3117=) c.9282A>C (p.Val3094=) c.7686A>C (p.Val2562=) n.9822A>C | |
6 | g.51748070T= | CA1628502444 | PKHD1 | c.9546A= (p.Val3182=) c.9417A= (p.Val3139=) c.9408A= (p.Val3136=) c.8904A= (p.Val2968=) c.8835A= (p.Val2945=) c.3621A= (p.Val1207=) c.9471A= (p.Val3157=) c.9351A= (p.Val3117=) c.9282A= (p.Val3094=) c.7686A= (p.Val2562=) n.9822A= | |
6 | g.51748071A>C | CA364420831 | PKHD1 | c.9545T>G (p.Val3182Gly) c.9416T>G (p.Val3139Gly) c.9407T>G (p.Val3136Gly) c.8903T>G (p.Val2968Gly) c.8834T>G (p.Val2945Gly) c.3620T>G (p.Val1207Gly) c.9470T>G (p.Val3157Gly) c.9350T>G (p.Val3117Gly) c.9281T>G (p.Val3094Gly) c.7685T>G (p.Val2562Gly) n.9821T>G | |
6 | g.51748071A>G | CA364420832 | PKHD1 | c.9545T>C (p.Val3182Ala) c.9416T>C (p.Val3139Ala) c.9407T>C (p.Val3136Ala) c.8903T>C (p.Val2968Ala) c.8834T>C (p.Val2945Ala) c.3620T>C (p.Val1207Ala) c.9470T>C (p.Val3157Ala) c.9350T>C (p.Val3117Ala) c.9281T>C (p.Val3094Ala) c.7685T>C (p.Val2562Ala) n.9821T>C | |
6 | g.51748071A>T | CA364420833 | PKHD1 | c.9545T>A (p.Val3182Glu) c.9416T>A (p.Val3139Glu) c.9407T>A (p.Val3136Glu) c.8903T>A (p.Val2968Glu) c.8834T>A (p.Val2945Glu) c.3620T>A (p.Val1207Glu) c.9470T>A (p.Val3157Glu) c.9350T>A (p.Val3117Glu) c.9281T>A (p.Val3094Glu) c.7685T>A (p.Val2562Glu) n.9821T>A |