Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.51658966T>A | CA450612605 | PKHD1 | c.11160A>T (p.Gly3720=) c.11031A>T (p.Gly3677=) c.11022A>T (p.Gly3674=) c.10518A>T (p.Gly3506=) c.10449A>T (p.Gly3483=) c.10157-9746A>T (n.10157-9746A>T) c.5235A>T (p.Gly1745=) n.535+6593T>A n.403+6593T>A c.11085A>T (p.Gly3695=) c.10965A>T (p.Gly3655=) c.10896A>T (p.Gly3632=) c.9300A>T (p.Gly3100=) n.11436A>T n.3145+6593T>A n.3013+6593T>A | dbSNP |
6 | g.51658966T>C | CA450612606 | PKHD1 | c.11160A>G (p.Gly3720=) c.11031A>G (p.Gly3677=) c.11022A>G (p.Gly3674=) c.10518A>G (p.Gly3506=) c.10449A>G (p.Gly3483=) c.10157-9746A>G (n.10157-9746A>G) c.5235A>G (p.Gly1745=) n.535+6593T>C n.403+6593T>C c.11085A>G (p.Gly3695=) c.10965A>G (p.Gly3655=) c.10896A>G (p.Gly3632=) c.9300A>G (p.Gly3100=) n.11436A>G n.3145+6593T>C n.3013+6593T>C | |
6 | g.51658966T>G | CA450612607 | PKHD1 | c.11160A>C (p.Gly3720=) c.11031A>C (p.Gly3677=) c.11022A>C (p.Gly3674=) c.10518A>C (p.Gly3506=) c.10449A>C (p.Gly3483=) c.10157-9746A>C (n.10157-9746A>C) c.5235A>C (p.Gly1745=) n.535+6593T>G n.403+6593T>G c.11085A>C (p.Gly3695=) c.10965A>C (p.Gly3655=) c.10896A>C (p.Gly3632=) c.9300A>C (p.Gly3100=) n.11436A>C n.3145+6593T>G n.3013+6593T>G | |
6 | g.51658966T= | CA1628438182 | PKHD1 | c.11160A= (p.Gly3720=) c.11031A= (p.Gly3677=) c.11022A= (p.Gly3674=) c.10518A= (p.Gly3506=) c.10449A= (p.Gly3483=) c.10157-9746A= (n.10157-9746A=) c.5235A= (p.Gly1745=) n.535+6593T= n.403+6593T= c.11085A= (p.Gly3695=) c.10965A= (p.Gly3655=) c.10896A= (p.Gly3632=) c.9300A= (p.Gly3100=) n.11436A= n.3145+6593T= n.3013+6593T= | |
6 | g.51658967C>A | CA364429751 | PKHD1 | c.11159G>T (p.Gly3720Val) c.11030G>T (p.Gly3677Val) c.11021G>T (p.Gly3674Val) c.10517G>T (p.Gly3506Val) c.10448G>T (p.Gly3483Val) c.10157-9747G>T (n.10157-9747G>T) c.5234G>T (p.Gly1745Val) n.535+6594C>A n.403+6594C>A c.11084G>T (p.Gly3695Val) c.10964G>T (p.Gly3655Val) c.10895G>T (p.Gly3632Val) c.9299G>T (p.Gly3100Val) n.11435G>T n.3145+6594C>A n.3013+6594C>A | gnomAD v4 |
6 | g.51658967C>G | CA364429755 | PKHD1 | c.11159G>C (p.Gly3720Ala) c.11030G>C (p.Gly3677Ala) c.11021G>C (p.Gly3674Ala) c.10517G>C (p.Gly3506Ala) c.10448G>C (p.Gly3483Ala) c.10157-9747G>C (n.10157-9747G>C) c.5234G>C (p.Gly1745Ala) n.535+6594C>G n.403+6594C>G c.11084G>C (p.Gly3695Ala) c.10964G>C (p.Gly3655Ala) c.10895G>C (p.Gly3632Ala) c.9299G>C (p.Gly3100Ala) n.11435G>C n.3145+6594C>G n.3013+6594C>G | |
6 | g.51658967C>T | CA364429753 | PKHD1 | c.11159G>A (p.Gly3720Glu) c.11030G>A (p.Gly3677Glu) c.11021G>A (p.Gly3674Glu) c.10517G>A (p.Gly3506Glu) c.10448G>A (p.Gly3483Glu) c.10157-9747G>A (n.10157-9747G>A) c.5234G>A (p.Gly1745Glu) n.535+6594C>T n.403+6594C>T c.11084G>A (p.Gly3695Glu) c.10964G>A (p.Gly3655Glu) c.10895G>A (p.Gly3632Glu) c.9299G>A (p.Gly3100Glu) n.11435G>A n.3145+6594C>T n.3013+6594C>T | |
6 | g.51658968C>A | CA364429757 | PKHD1 | c.11158G>T (p.Gly3720Ter) c.11029G>T (p.Gly3677Ter) c.11020G>T (p.Gly3674Ter) c.10516G>T (p.Gly3506Ter) c.10447G>T (p.Gly3483Ter) c.10157-9748G>T (n.10157-9748G>T) c.5233G>T (p.Gly1745Ter) n.535+6595C>A n.403+6595C>A c.11083G>T (p.Gly3695Ter) c.10963G>T (p.Gly3655Ter) c.10894G>T (p.Gly3632Ter) c.9298G>T (p.Gly3100Ter) n.11434G>T n.3145+6595C>A n.3013+6595C>A | |
6 | g.51658968C>G | CA364429758 | PKHD1 | c.11158G>C (p.Gly3720Arg) c.11029G>C (p.Gly3677Arg) c.11020G>C (p.Gly3674Arg) c.10516G>C (p.Gly3506Arg) c.10447G>C (p.Gly3483Arg) c.10157-9748G>C (n.10157-9748G>C) c.5233G>C (p.Gly1745Arg) n.535+6595C>G n.403+6595C>G c.11083G>C (p.Gly3695Arg) c.10963G>C (p.Gly3655Arg) c.10894G>C (p.Gly3632Arg) c.9298G>C (p.Gly3100Arg) n.11434G>C n.3145+6595C>G n.3013+6595C>G | |
6 | g.51658968C>T | CA364429761 | PKHD1 | c.11158G>A (p.Gly3720Arg) c.11029G>A (p.Gly3677Arg) c.11020G>A (p.Gly3674Arg) c.10516G>A (p.Gly3506Arg) c.10447G>A (p.Gly3483Arg) c.10157-9748G>A (n.10157-9748G>A) c.5233G>A (p.Gly1745Arg) n.535+6595C>T n.403+6595C>T c.11083G>A (p.Gly3695Arg) c.10963G>A (p.Gly3655Arg) c.10894G>A (p.Gly3632Arg) c.9298G>A (p.Gly3100Arg) n.11434G>A n.3145+6595C>T n.3013+6595C>T | |
6 | g.51658969C>A | CA364429774 | PKHD1 | c.11157G>T (p.Lys3719Asn) c.11028G>T (p.Lys3676Asn) c.11019G>T (p.Lys3673Asn) c.10515G>T (p.Lys3505Asn) c.10446G>T (p.Lys3482Asn) c.10157-9749G>T (n.10157-9749G>T) c.5232G>T (p.Lys1744Asn) n.535+6596C>A n.403+6596C>A c.11082G>T (p.Lys3694Asn) c.10962G>T (p.Lys3654Asn) c.10893G>T (p.Lys3631Asn) c.9297G>T (p.Lys3099Asn) n.11433G>T n.3145+6596C>A n.3013+6596C>A | |
6 | g.51658969C= | CA1628438184 | PKHD1 | c.11157G= (p.Lys3719=) c.11028G= (p.Lys3676=) c.11019G= (p.Lys3673=) c.10515G= (p.Lys3505=) c.10446G= (p.Lys3482=) c.10157-9749G= (n.10157-9749G=) c.5232G= (p.Lys1744=) n.535+6596C= n.403+6596C= c.11082G= (p.Lys3694=) c.10962G= (p.Lys3654=) c.10893G= (p.Lys3631=) c.9297G= (p.Lys3099=) n.11433G= n.3145+6596C= n.3013+6596C= | |
6 | g.51658969C>G | CA364429776 | PKHD1 | c.11157G>C (p.Lys3719Asn) c.11028G>C (p.Lys3676Asn) c.11019G>C (p.Lys3673Asn) c.10515G>C (p.Lys3505Asn) c.10446G>C (p.Lys3482Asn) c.10157-9749G>C (n.10157-9749G>C) c.5232G>C (p.Lys1744Asn) n.535+6596C>G n.403+6596C>G c.11082G>C (p.Lys3694Asn) c.10962G>C (p.Lys3654Asn) c.10893G>C (p.Lys3631Asn) c.9297G>C (p.Lys3099Asn) n.11433G>C n.3145+6596C>G n.3013+6596C>G | |
6 | g.51658969C>T | CA450612608 | PKHD1 | c.11157G>A (p.Lys3719=) c.11028G>A (p.Lys3676=) c.11019G>A (p.Lys3673=) c.10515G>A (p.Lys3505=) c.10446G>A (p.Lys3482=) c.10157-9749G>A (n.10157-9749G>A) c.5232G>A (p.Lys1744=) n.535+6596C>T n.403+6596C>T c.11082G>A (p.Lys3694=) c.10962G>A (p.Lys3654=) c.10893G>A (p.Lys3631=) c.9297G>A (p.Lys3099=) n.11433G>A n.3145+6596C>T n.3013+6596C>T | dbSNP |
6 | g.51658970T>A | CA364429778 | PKHD1 | c.11156A>T (p.Lys3719Met) c.11027A>T (p.Lys3676Met) c.11018A>T (p.Lys3673Met) c.10514A>T (p.Lys3505Met) c.10445A>T (p.Lys3482Met) c.10157-9750A>T (n.10157-9750A>T) c.5231A>T (p.Lys1744Met) n.535+6597T>A n.403+6597T>A c.11081A>T (p.Lys3694Met) c.10961A>T (p.Lys3654Met) c.10892A>T (p.Lys3631Met) c.9296A>T (p.Lys3099Met) n.11432A>T n.3145+6597T>A n.3013+6597T>A | |
6 | g.51658970T>C | CA364429781 | PKHD1 | c.11156A>G (p.Lys3719Arg) c.11027A>G (p.Lys3676Arg) c.11018A>G (p.Lys3673Arg) c.10514A>G (p.Lys3505Arg) c.10445A>G (p.Lys3482Arg) c.10157-9750A>G (n.10157-9750A>G) c.5231A>G (p.Lys1744Arg) n.535+6597T>C n.403+6597T>C c.11081A>G (p.Lys3694Arg) c.10961A>G (p.Lys3654Arg) c.10892A>G (p.Lys3631Arg) c.9296A>G (p.Lys3099Arg) n.11432A>G n.3145+6597T>C n.3013+6597T>C | |
6 | g.51658970T>G | CA364429784 | PKHD1 | c.11156A>C (p.Lys3719Thr) c.11027A>C (p.Lys3676Thr) c.11018A>C (p.Lys3673Thr) c.10514A>C (p.Lys3505Thr) c.10445A>C (p.Lys3482Thr) c.10157-9750A>C (n.10157-9750A>C) c.5231A>C (p.Lys1744Thr) n.535+6597T>G n.403+6597T>G c.11081A>C (p.Lys3694Thr) c.10961A>C (p.Lys3654Thr) c.10892A>C (p.Lys3631Thr) c.9296A>C (p.Lys3099Thr) n.11432A>C n.3145+6597T>G n.3013+6597T>G | |
6 | g.51658971T>A | CA364429785 | PKHD1 | c.11155A>T (p.Lys3719Ter) c.11026A>T (p.Lys3676Ter) c.11017A>T (p.Lys3673Ter) c.10513A>T (p.Lys3505Ter) c.10444A>T (p.Lys3482Ter) c.10157-9751A>T (n.10157-9751A>T) c.5230A>T (p.Lys1744Ter) n.535+6598T>A n.403+6598T>A c.11080A>T (p.Lys3694Ter) c.10960A>T (p.Lys3654Ter) c.10891A>T (p.Lys3631Ter) c.9295A>T (p.Lys3099Ter) n.11431A>T n.3145+6598T>A n.3013+6598T>A | |
6 | g.51658971T>C | CA364429786 | PKHD1 | c.11155A>G (p.Lys3719Glu) c.11026A>G (p.Lys3676Glu) c.11017A>G (p.Lys3673Glu) c.10513A>G (p.Lys3505Glu) c.10444A>G (p.Lys3482Glu) c.10157-9751A>G (n.10157-9751A>G) c.5230A>G (p.Lys1744Glu) n.535+6598T>C n.403+6598T>C c.11080A>G (p.Lys3694Glu) c.10960A>G (p.Lys3654Glu) c.10891A>G (p.Lys3631Glu) c.9295A>G (p.Lys3099Glu) n.11431A>G n.3145+6598T>C n.3013+6598T>C | dbSNP gnomAD v4 |
6 | g.51658971T>G | CA364429791 | PKHD1 | c.11155A>C (p.Lys3719Gln) c.11026A>C (p.Lys3676Gln) c.11017A>C (p.Lys3673Gln) c.10513A>C (p.Lys3505Gln) c.10444A>C (p.Lys3482Gln) c.10157-9751A>C (n.10157-9751A>C) c.5230A>C (p.Lys1744Gln) n.535+6598T>G n.403+6598T>G c.11080A>C (p.Lys3694Gln) c.10960A>C (p.Lys3654Gln) c.10891A>C (p.Lys3631Gln) c.9295A>C (p.Lys3099Gln) n.11431A>C n.3145+6598T>G n.3013+6598T>G | |
6 | g.51658971T= | CA1628438188 | PKHD1 | c.11155A= (p.Lys3719=) c.11026A= (p.Lys3676=) c.11017A= (p.Lys3673=) c.10513A= (p.Lys3505=) c.10444A= (p.Lys3482=) c.10157-9751A= (n.10157-9751A=) c.5230A= (p.Lys1744=) n.535+6598T= n.403+6598T= c.11080A= (p.Lys3694=) c.10960A= (p.Lys3654=) c.10891A= (p.Lys3631=) c.9295A= (p.Lys3099=) n.11431A= n.3145+6598T= n.3013+6598T= | |
6 | g.51658971_51658975delinsTTGAC | CA1628438190 | PKHD1 | c.11151_11155delinsGTCAA (p.Gln3717=) c.11022_11026delinsGTCAA (p.Gln3674=) c.11013_11017delinsGTCAA (p.Gln3671=) c.10509_10513delinsGTCAA (p.Gln3503=) c.10440_10444delinsGTCAA (p.Gln3480=) c.10157-9755_10157-9751delinsGTCAA (n.10157-9755_10157-9751delinsGTCAA) c.5226_5230delinsGTCAA (p.Gln1742=) n.535+6598_535+6602delinsTTGAC n.403+6598_403+6602delinsTTGAC c.11076_11080delinsGTCAA (p.Gln3692=) c.10956_10960delinsGTCAA (p.Gln3652=) c.10887_10891delinsGTCAA (p.Gln3629=) c.9291_9295delinsGTCAA (p.Gln3097=) n.11427_11431delinsGTCAA n.3145+6598_3145+6602delinsTTGAC n.3013+6598_3013+6602delinsTTGAC | |
6 | g.51658972T>A | CA450612609 | PKHD1 | c.11154A>T (p.Ser3718=) c.11025A>T (p.Ser3675=) c.11016A>T (p.Ser3672=) c.10512A>T (p.Ser3504=) c.10443A>T (p.Ser3481=) c.10157-9752A>T (n.10157-9752A>T) c.5229A>T (p.Ser1743=) n.535+6599T>A n.403+6599T>A c.11079A>T (p.Ser3693=) c.10959A>T (p.Ser3653=) c.10890A>T (p.Ser3630=) c.9294A>T (p.Ser3098=) n.11430A>T n.3145+6599T>A n.3013+6599T>A | |
6 | g.51658972T>C | CA450612610 | PKHD1 | c.11154A>G (p.Ser3718=) c.11025A>G (p.Ser3675=) c.11016A>G (p.Ser3672=) c.10512A>G (p.Ser3504=) c.10443A>G (p.Ser3481=) c.10157-9752A>G (n.10157-9752A>G) c.5229A>G (p.Ser1743=) n.535+6599T>C n.403+6599T>C c.11079A>G (p.Ser3693=) c.10959A>G (p.Ser3653=) c.10890A>G (p.Ser3630=) c.9294A>G (p.Ser3098=) n.11430A>G n.3145+6599T>C n.3013+6599T>C | dbSNP |
6 | g.51658972T>G | CA450612611 | PKHD1 | c.11154A>C (p.Ser3718=) c.11025A>C (p.Ser3675=) c.11016A>C (p.Ser3672=) c.10512A>C (p.Ser3504=) c.10443A>C (p.Ser3481=) c.10157-9752A>C (n.10157-9752A>C) c.5229A>C (p.Ser1743=) n.535+6599T>G n.403+6599T>G c.11079A>C (p.Ser3693=) c.10959A>C (p.Ser3653=) c.10890A>C (p.Ser3630=) c.9294A>C (p.Ser3098=) n.11430A>C n.3145+6599T>G n.3013+6599T>G | |
6 | g.51658972T= | CA1628438193 | PKHD1 | c.11154A= (p.Ser3718=) c.11025A= (p.Ser3675=) c.11016A= (p.Ser3672=) c.10512A= (p.Ser3504=) c.10443A= (p.Ser3481=) c.10157-9752A= (n.10157-9752A=) c.5229A= (p.Ser1743=) n.535+6599T= n.403+6599T= c.11079A= (p.Ser3693=) c.10959A= (p.Ser3653=) c.10890A= (p.Ser3630=) c.9294A= (p.Ser3098=) n.11430A= n.3145+6599T= n.3013+6599T= | |
6 | g.51658975_51658978del | CA1628438192 | PKHD1 | c.11151_11154del (p.Ser3718ArgfsTer17) c.11022_11025del (p.Ser3675ArgfsTer17) c.11013_11016del (p.Ser3672ArgfsTer17) c.10509_10512del (p.Ser3504ArgfsTer17) c.10440_10443del (p.Ser3481ArgfsTer17) c.10157-9755_10157-9752del (n.10157-9755_10157-9752del) c.5226_5229del (p.Ser1743ArgfsTer17) n.535+6602_535+6605del n.403+6602_403+6605del c.11076_11079del (p.Ser3693ArgfsTer17) c.10956_10959del (p.Ser3653ArgfsTer17) c.10887_10890del (p.Ser3630ArgfsTer17) c.9291_9294del (p.Ser3098ArgfsTer17) n.11427_11430del n.3145+6602_3145+6605del n.3013+6602_3013+6605del | ClinVar dbSNP |
6 | g.51658973G>A | CA364429797 | PKHD1 | c.11153C>T (p.Ser3718Leu) c.11024C>T (p.Ser3675Leu) c.11015C>T (p.Ser3672Leu) c.10511C>T (p.Ser3504Leu) c.10442C>T (p.Ser3481Leu) c.10157-9753C>T (n.10157-9753C>T) c.5228C>T (p.Ser1743Leu) n.535+6600G>A n.403+6600G>A c.11078C>T (p.Ser3693Leu) c.10958C>T (p.Ser3653Leu) c.10889C>T (p.Ser3630Leu) c.9293C>T (p.Ser3098Leu) n.11429C>T n.3145+6600G>A n.3013+6600G>A | gnomAD v4 |
6 | g.51658973G>C | CA364429799 | PKHD1 | c.11153C>G (p.Ser3718Ter) c.11024C>G (p.Ser3675Ter) c.11015C>G (p.Ser3672Ter) c.10511C>G (p.Ser3504Ter) c.10442C>G (p.Ser3481Ter) c.10157-9753C>G (n.10157-9753C>G) c.5228C>G (p.Ser1743Ter) n.535+6600G>C n.403+6600G>C c.11078C>G (p.Ser3693Ter) c.10958C>G (p.Ser3653Ter) c.10889C>G (p.Ser3630Ter) c.9293C>G (p.Ser3098Ter) n.11429C>G n.3145+6600G>C n.3013+6600G>C | |
6 | g.51658973G>T | CA364429795 | PKHD1 | c.11153C>A (p.Ser3718Ter) c.11024C>A (p.Ser3675Ter) c.11015C>A (p.Ser3672Ter) c.10511C>A (p.Ser3504Ter) c.10442C>A (p.Ser3481Ter) c.10157-9753C>A (n.10157-9753C>A) c.5228C>A (p.Ser1743Ter) n.535+6600G>T n.403+6600G>T c.11078C>A (p.Ser3693Ter) c.10958C>A (p.Ser3653Ter) c.10889C>A (p.Ser3630Ter) c.9293C>A (p.Ser3098Ter) n.11429C>A n.3145+6600G>T n.3013+6600G>T | |
6 | g.51658973_51658975del | CA2695206411 | PKHD1 | c.11151_11153del (p.Ser3718del) c.11022_11024del (p.Ser3675del) c.11013_11015del (p.Ser3672del) c.10509_10511del (p.Ser3504del) c.10440_10442del (p.Ser3481del) c.10157-9755_10157-9753del (n.10157-9755_10157-9753del) c.5226_5228del (p.Ser1743del) n.535+6600_535+6602del n.403+6600_403+6602del c.11076_11078del (p.Ser3693del) c.10956_10958del (p.Ser3653del) c.10887_10889del (p.Ser3630del) c.9291_9293del (p.Ser3098del) n.11427_11429del n.3145+6600_3145+6602del n.3013+6600_3013+6602del | |
6 | g.51658974A>C | CA364429802 | PKHD1 | c.11152T>G (p.Ser3718Ala) c.11023T>G (p.Ser3675Ala) c.11014T>G (p.Ser3672Ala) c.10510T>G (p.Ser3504Ala) c.10441T>G (p.Ser3481Ala) c.10157-9754T>G (n.10157-9754T>G) c.5227T>G (p.Ser1743Ala) n.535+6601A>C n.403+6601A>C c.11077T>G (p.Ser3693Ala) c.10957T>G (p.Ser3653Ala) c.10888T>G (p.Ser3630Ala) c.9292T>G (p.Ser3098Ala) n.11428T>G n.3145+6601A>C n.3013+6601A>C | |
6 | g.51658974A>G | CA364429804 | PKHD1 | c.11152T>C (p.Ser3718Pro) c.11023T>C (p.Ser3675Pro) c.11014T>C (p.Ser3672Pro) c.10510T>C (p.Ser3504Pro) c.10441T>C (p.Ser3481Pro) c.10157-9754T>C (n.10157-9754T>C) c.5227T>C (p.Ser1743Pro) n.535+6601A>G n.403+6601A>G c.11077T>C (p.Ser3693Pro) c.10957T>C (p.Ser3653Pro) c.10888T>C (p.Ser3630Pro) c.9292T>C (p.Ser3098Pro) n.11428T>C n.3145+6601A>G n.3013+6601A>G | COSMIC |
6 | g.51658974A>T | CA364429807 | PKHD1 | c.11152T>A (p.Ser3718Thr) c.11023T>A (p.Ser3675Thr) c.11014T>A (p.Ser3672Thr) c.10510T>A (p.Ser3504Thr) c.10441T>A (p.Ser3481Thr) c.10157-9754T>A (n.10157-9754T>A) c.5227T>A (p.Ser1743Thr) n.535+6601A>T n.403+6601A>T c.11077T>A (p.Ser3693Thr) c.10957T>A (p.Ser3653Thr) c.10888T>A (p.Ser3630Thr) c.9292T>A (p.Ser3098Thr) n.11428T>A n.3145+6601A>T n.3013+6601A>T | |
6 | g.51658975C>A | CA364429810 | PKHD1 | c.11151G>T (p.Gln3717His) c.11022G>T (p.Gln3674His) c.11013G>T (p.Gln3671His) c.10509G>T (p.Gln3503His) c.10440G>T (p.Gln3480His) c.10157-9755G>T (n.10157-9755G>T) c.5226G>T (p.Gln1742His) n.535+6602C>A n.403+6602C>A c.11076G>T (p.Gln3692His) c.10956G>T (p.Gln3652His) c.10887G>T (p.Gln3629His) c.9291G>T (p.Gln3097His) n.11427G>T n.3145+6602C>A n.3013+6602C>A | |
6 | g.51658975C>G | CA364429815 | PKHD1 | c.11151G>C (p.Gln3717His) c.11022G>C (p.Gln3674His) c.11013G>C (p.Gln3671His) c.10509G>C (p.Gln3503His) c.10440G>C (p.Gln3480His) c.10157-9755G>C (n.10157-9755G>C) c.5226G>C (p.Gln1742His) n.535+6602C>G n.403+6602C>G c.11076G>C (p.Gln3692His) c.10956G>C (p.Gln3652His) c.10887G>C (p.Gln3629His) c.9291G>C (p.Gln3097His) n.11427G>C n.3145+6602C>G n.3013+6602C>G | |
6 | g.51658975C>T | CA450612612 | PKHD1 | c.11151G>A (p.Gln3717=) c.11022G>A (p.Gln3674=) c.11013G>A (p.Gln3671=) c.10509G>A (p.Gln3503=) c.10440G>A (p.Gln3480=) c.10157-9755G>A (n.10157-9755G>A) c.5226G>A (p.Gln1742=) n.535+6602C>T n.403+6602C>T c.11076G>A (p.Gln3692=) c.10956G>A (p.Gln3652=) c.10887G>A (p.Gln3629=) c.9291G>A (p.Gln3097=) n.11427G>A n.3145+6602C>T n.3013+6602C>T | |
6 | g.51658975_51658979del | CA913110682 | PKHD1 | c.11147_11151del (p.Thr3716IlefsTer14) c.11018_11022del (p.Thr3673IlefsTer14) c.11009_11013del (p.Thr3670IlefsTer14) c.10505_10509del (p.Thr3502IlefsTer14) c.10436_10440del (p.Thr3479IlefsTer14) c.10157-9759_10157-9755del (n.10157-9759_10157-9755del) c.5222_5226del (p.Thr1741IlefsTer14) n.535+6602_535+6606del n.403+6602_403+6606del c.11072_11076del (p.Thr3691IlefsTer14) c.10952_10956del (p.Thr3651IlefsTer14) c.10883_10887del (p.Thr3628IlefsTer14) c.9287_9291del (p.Thr3096IlefsTer14) n.11423_11427del n.3145+6602_3145+6606del n.3013+6602_3013+6606del | |
6 | g.51658975_51658979delinsCTGAG | CA1628438195 | PKHD1 | c.11147_11151delinsCTCAG (p.Thr3716=) c.11018_11022delinsCTCAG (p.Thr3673=) c.11009_11013delinsCTCAG (p.Thr3670=) c.10505_10509delinsCTCAG (p.Thr3502=) c.10436_10440delinsCTCAG (p.Thr3479=) c.10157-9759_10157-9755delinsCTCAG (n.10157-9759_10157-9755delinsCTCAG) c.5222_5226delinsCTCAG (p.Thr1741=) n.535+6602_535+6606delinsCTGAG n.403+6602_403+6606delinsCTGAG c.11072_11076delinsCTCAG (p.Thr3691=) c.10952_10956delinsCTCAG (p.Thr3651=) c.10883_10887delinsCTCAG (p.Thr3628=) c.9287_9291delinsCTCAG (p.Thr3096=) n.11423_11427delinsCTCAG n.3145+6602_3145+6606delinsCTGAG n.3013+6602_3013+6606delinsCTGAG | |
6 | g.51658976T>A | CA364429833 | PKHD1 | c.11150A>T (p.Gln3717Leu) c.11021A>T (p.Gln3674Leu) c.11012A>T (p.Gln3671Leu) c.10508A>T (p.Gln3503Leu) c.10439A>T (p.Gln3480Leu) c.10157-9756A>T (n.10157-9756A>T) c.5225A>T (p.Gln1742Leu) n.535+6603T>A n.403+6603T>A c.11075A>T (p.Gln3692Leu) c.10955A>T (p.Gln3652Leu) c.10886A>T (p.Gln3629Leu) c.9290A>T (p.Gln3097Leu) n.11426A>T n.3145+6603T>A n.3013+6603T>A | |
6 | g.51658976T>C | CA364429831 | PKHD1 | c.11150A>G (p.Gln3717Arg) c.11021A>G (p.Gln3674Arg) c.11012A>G (p.Gln3671Arg) c.10508A>G (p.Gln3503Arg) c.10439A>G (p.Gln3480Arg) c.10157-9756A>G (n.10157-9756A>G) c.5225A>G (p.Gln1742Arg) n.535+6603T>C n.403+6603T>C c.11075A>G (p.Gln3692Arg) c.10955A>G (p.Gln3652Arg) c.10886A>G (p.Gln3629Arg) c.9290A>G (p.Gln3097Arg) n.11426A>G n.3145+6603T>C n.3013+6603T>C | |
6 | g.51658976T>G | CA364429827 | PKHD1 | c.11150A>C (p.Gln3717Pro) c.11021A>C (p.Gln3674Pro) c.11012A>C (p.Gln3671Pro) c.10508A>C (p.Gln3503Pro) c.10439A>C (p.Gln3480Pro) c.10157-9756A>C (n.10157-9756A>C) c.5225A>C (p.Gln1742Pro) n.535+6603T>G n.403+6603T>G c.11075A>C (p.Gln3692Pro) c.10955A>C (p.Gln3652Pro) c.10886A>C (p.Gln3629Pro) c.9290A>C (p.Gln3097Pro) n.11426A>C n.3145+6603T>G n.3013+6603T>G | |
6 | g.51658977_51658980del | CA658821695 | PKHD1 | c.11147_11150del (p.Thr3716SerfsTer19) c.11018_11021del (p.Thr3673SerfsTer19) c.11009_11012del (p.Thr3670SerfsTer19) c.10505_10508del (p.Thr3502SerfsTer19) c.10436_10439del (p.Thr3479SerfsTer19) c.10157-9759_10157-9756del (n.10157-9759_10157-9756del) c.5222_5225del (p.Thr1741SerfsTer19) n.535+6604_535+6607del n.403+6604_403+6607del c.11072_11075del (p.Thr3691SerfsTer19) c.10952_10955del (p.Thr3651SerfsTer19) c.10883_10886del (p.Thr3628SerfsTer19) c.9287_9290del (p.Thr3096SerfsTer19) n.11423_11426del n.3145+6604_3145+6607del n.3013+6604_3013+6607del | ClinVar dbSNP |
6 | g.51658977G>A | CA364429835 | PKHD1 | c.11149C>T (p.Gln3717Ter) c.11020C>T (p.Gln3674Ter) c.11011C>T (p.Gln3671Ter) c.10507C>T (p.Gln3503Ter) c.10438C>T (p.Gln3480Ter) c.10157-9757C>T (n.10157-9757C>T) c.5224C>T (p.Gln1742Ter) n.535+6604G>A n.403+6604G>A c.11074C>T (p.Gln3692Ter) c.10954C>T (p.Gln3652Ter) c.10885C>T (p.Gln3629Ter) c.9289C>T (p.Gln3097Ter) n.11425C>T n.3145+6604G>A n.3013+6604G>A | |
6 | g.51658977G>C | CA364429838 | PKHD1 | c.11149C>G (p.Gln3717Glu) c.11020C>G (p.Gln3674Glu) c.11011C>G (p.Gln3671Glu) c.10507C>G (p.Gln3503Glu) c.10438C>G (p.Gln3480Glu) c.10157-9757C>G (n.10157-9757C>G) c.5224C>G (p.Gln1742Glu) n.535+6604G>C n.403+6604G>C c.11074C>G (p.Gln3692Glu) c.10954C>G (p.Gln3652Glu) c.10885C>G (p.Gln3629Glu) c.9289C>G (p.Gln3097Glu) n.11425C>G n.3145+6604G>C n.3013+6604G>C | |
6 | g.51658977G>T | CA364429840 | PKHD1 | c.11149C>A (p.Gln3717Lys) c.11020C>A (p.Gln3674Lys) c.11011C>A (p.Gln3671Lys) c.10507C>A (p.Gln3503Lys) c.10438C>A (p.Gln3480Lys) c.10157-9757C>A (n.10157-9757C>A) c.5224C>A (p.Gln1742Lys) n.535+6604G>T n.403+6604G>T c.11074C>A (p.Gln3692Lys) c.10954C>A (p.Gln3652Lys) c.10885C>A (p.Gln3629Lys) c.9289C>A (p.Gln3097Lys) n.11425C>A n.3145+6604G>T n.3013+6604G>T | |
6 | g.51658978A>C | CA450612613 | PKHD1 | c.11148T>G (p.Thr3716=) c.11019T>G (p.Thr3673=) c.11010T>G (p.Thr3670=) c.10506T>G (p.Thr3502=) c.10437T>G (p.Thr3479=) c.10157-9758T>G (n.10157-9758T>G) c.5223T>G (p.Thr1741=) n.535+6605A>C n.403+6605A>C c.11073T>G (p.Thr3691=) c.10953T>G (p.Thr3651=) c.10884T>G (p.Thr3628=) c.9288T>G (p.Thr3096=) n.11424T>G n.3145+6605A>C n.3013+6605A>C | |
6 | g.51658978A>G | CA450612614 | PKHD1 | c.11148T>C (p.Thr3716=) c.11019T>C (p.Thr3673=) c.11010T>C (p.Thr3670=) c.10506T>C (p.Thr3502=) c.10437T>C (p.Thr3479=) c.10157-9758T>C (n.10157-9758T>C) c.5223T>C (p.Thr1741=) n.535+6605A>G n.403+6605A>G c.11073T>C (p.Thr3691=) c.10953T>C (p.Thr3651=) c.10884T>C (p.Thr3628=) c.9288T>C (p.Thr3096=) n.11424T>C n.3145+6605A>G n.3013+6605A>G | |
6 | g.51658978A>T | CA450612615 | PKHD1 | c.11148T>A (p.Thr3716=) c.11019T>A (p.Thr3673=) c.11010T>A (p.Thr3670=) c.10506T>A (p.Thr3502=) c.10437T>A (p.Thr3479=) c.10157-9758T>A (n.10157-9758T>A) c.5223T>A (p.Thr1741=) n.535+6605A>T n.403+6605A>T c.11073T>A (p.Thr3691=) c.10953T>A (p.Thr3651=) c.10884T>A (p.Thr3628=) c.9288T>A (p.Thr3096=) n.11424T>A n.3145+6605A>T n.3013+6605A>T | |
6 | g.51658979G>A | CA364429841 | PKHD1 | c.11147C>T (p.Thr3716Ile) c.11018C>T (p.Thr3673Ile) c.11009C>T (p.Thr3670Ile) c.10505C>T (p.Thr3502Ile) c.10436C>T (p.Thr3479Ile) c.10157-9759C>T (n.10157-9759C>T) c.5222C>T (p.Thr1741Ile) n.535+6606G>A n.403+6606G>A c.11072C>T (p.Thr3691Ile) c.10952C>T (p.Thr3651Ile) c.10883C>T (p.Thr3628Ile) c.9287C>T (p.Thr3096Ile) n.11423C>T n.3145+6606G>A n.3013+6606G>A | |
6 | g.51658979G>C | CA364429844 | PKHD1 | c.11147C>G (p.Thr3716Ser) c.11018C>G (p.Thr3673Ser) c.11009C>G (p.Thr3670Ser) c.10505C>G (p.Thr3502Ser) c.10436C>G (p.Thr3479Ser) c.10157-9759C>G (n.10157-9759C>G) c.5222C>G (p.Thr1741Ser) n.535+6606G>C n.403+6606G>C c.11072C>G (p.Thr3691Ser) c.10952C>G (p.Thr3651Ser) c.10883C>G (p.Thr3628Ser) c.9287C>G (p.Thr3096Ser) n.11423C>G n.3145+6606G>C n.3013+6606G>C | |
6 | g.51658979G>T | CA364429845 | PKHD1 | c.11147C>A (p.Thr3716Asn) c.11018C>A (p.Thr3673Asn) c.11009C>A (p.Thr3670Asn) c.10505C>A (p.Thr3502Asn) c.10436C>A (p.Thr3479Asn) c.10157-9759C>A (n.10157-9759C>A) c.5222C>A (p.Thr1741Asn) n.535+6606G>T n.403+6606G>T c.11072C>A (p.Thr3691Asn) c.10952C>A (p.Thr3651Asn) c.10883C>A (p.Thr3628Asn) c.9287C>A (p.Thr3096Asn) n.11423C>A n.3145+6606G>T n.3013+6606G>T | |
6 | g.51658980T>A | CA364429848 | PKHD1 | c.11146A>T (p.Thr3716Ser) c.11017A>T (p.Thr3673Ser) c.11008A>T (p.Thr3670Ser) c.10504A>T (p.Thr3502Ser) c.10435A>T (p.Thr3479Ser) c.10157-9760A>T (n.10157-9760A>T) c.5221A>T (p.Thr1741Ser) n.535+6607T>A n.403+6607T>A c.11071A>T (p.Thr3691Ser) c.10951A>T (p.Thr3651Ser) c.10882A>T (p.Thr3628Ser) c.9286A>T (p.Thr3096Ser) n.11422A>T n.3145+6607T>A n.3013+6607T>A | |
6 | g.51658980T>C | CA364429846 | PKHD1 | c.11146A>G (p.Thr3716Ala) c.11017A>G (p.Thr3673Ala) c.11008A>G (p.Thr3670Ala) c.10504A>G (p.Thr3502Ala) c.10435A>G (p.Thr3479Ala) c.10157-9760A>G (n.10157-9760A>G) c.5221A>G (p.Thr1741Ala) n.535+6607T>C n.403+6607T>C c.11071A>G (p.Thr3691Ala) c.10951A>G (p.Thr3651Ala) c.10882A>G (p.Thr3628Ala) c.9286A>G (p.Thr3096Ala) n.11422A>G n.3145+6607T>C n.3013+6607T>C | gnomAD v4 |
6 | g.51658980T>G | CA364429847 | PKHD1 | c.11146A>C (p.Thr3716Pro) c.11017A>C (p.Thr3673Pro) c.11008A>C (p.Thr3670Pro) c.10504A>C (p.Thr3502Pro) c.10435A>C (p.Thr3479Pro) c.10157-9760A>C (n.10157-9760A>C) c.5221A>C (p.Thr1741Pro) n.535+6607T>G n.403+6607T>G c.11071A>C (p.Thr3691Pro) c.10951A>C (p.Thr3651Pro) c.10882A>C (p.Thr3628Pro) c.9286A>C (p.Thr3096Pro) n.11422A>C n.3145+6607T>G n.3013+6607T>G | |
6 | g.51658981A>C | CA450612616 | PKHD1 | c.11145T>G (p.Val3715=) c.11016T>G (p.Val3672=) c.11007T>G (p.Val3669=) c.10503T>G (p.Val3501=) c.10434T>G (p.Val3478=) c.10157-9761T>G (n.10157-9761T>G) c.5220T>G (p.Val1740=) n.535+6608A>C n.403+6608A>C c.11070T>G (p.Val3690=) c.10950T>G (p.Val3650=) c.10881T>G (p.Val3627=) c.9285T>G (p.Val3095=) n.11421T>G n.3145+6608A>C n.3013+6608A>C | |
6 | g.51658981A>G | CA450612617 | PKHD1 | c.11145T>C (p.Val3715=) c.11016T>C (p.Val3672=) c.11007T>C (p.Val3669=) c.10503T>C (p.Val3501=) c.10434T>C (p.Val3478=) c.10157-9761T>C (n.10157-9761T>C) c.5220T>C (p.Val1740=) n.535+6608A>G n.403+6608A>G c.11070T>C (p.Val3690=) c.10950T>C (p.Val3650=) c.10881T>C (p.Val3627=) c.9285T>C (p.Val3095=) n.11421T>C n.3145+6608A>G n.3013+6608A>G | |
6 | g.51658981A>T | CA450612618 | PKHD1 | c.11145T>A (p.Val3715=) c.11016T>A (p.Val3672=) c.11007T>A (p.Val3669=) c.10503T>A (p.Val3501=) c.10434T>A (p.Val3478=) c.10157-9761T>A (n.10157-9761T>A) c.5220T>A (p.Val1740=) n.535+6608A>T n.403+6608A>T c.11070T>A (p.Val3690=) c.10950T>A (p.Val3650=) c.10881T>A (p.Val3627=) c.9285T>A (p.Val3095=) n.11421T>A n.3145+6608A>T n.3013+6608A>T | |
6 | g.51658982A>C | CA364429851 | PKHD1 | c.11144T>G (p.Val3715Gly) c.11015T>G (p.Val3672Gly) c.11006T>G (p.Val3669Gly) c.10502T>G (p.Val3501Gly) c.10433T>G (p.Val3478Gly) c.10157-9762T>G (n.10157-9762T>G) c.5219T>G (p.Val1740Gly) n.535+6609A>C n.403+6609A>C c.11069T>G (p.Val3690Gly) c.10949T>G (p.Val3650Gly) c.10880T>G (p.Val3627Gly) c.9284T>G (p.Val3095Gly) n.11420T>G n.3145+6609A>C n.3013+6609A>C | |
6 | g.51658982A>G | CA364429852 | PKHD1 | c.11144T>C (p.Val3715Ala) c.11015T>C (p.Val3672Ala) c.11006T>C (p.Val3669Ala) c.10502T>C (p.Val3501Ala) c.10433T>C (p.Val3478Ala) c.10157-9762T>C (n.10157-9762T>C) c.5219T>C (p.Val1740Ala) n.535+6609A>G n.403+6609A>G c.11069T>C (p.Val3690Ala) c.10949T>C (p.Val3650Ala) c.10880T>C (p.Val3627Ala) c.9284T>C (p.Val3095Ala) n.11420T>C n.3145+6609A>G n.3013+6609A>G | |
6 | g.51658982A>T | CA364429853 | PKHD1 | c.11144T>A (p.Val3715Asp) c.11015T>A (p.Val3672Asp) c.11006T>A (p.Val3669Asp) c.10502T>A (p.Val3501Asp) c.10433T>A (p.Val3478Asp) c.10157-9762T>A (n.10157-9762T>A) c.5219T>A (p.Val1740Asp) n.535+6609A>T n.403+6609A>T c.11069T>A (p.Val3690Asp) c.10949T>A (p.Val3650Asp) c.10880T>A (p.Val3627Asp) c.9284T>A (p.Val3095Asp) n.11420T>A n.3145+6609A>T n.3013+6609A>T | |
6 | g.51658983C>A | CA364429855 | PKHD1 | c.11143G>T (p.Val3715Phe) c.11014G>T (p.Val3672Phe) c.11005G>T (p.Val3669Phe) c.10501G>T (p.Val3501Phe) c.10432G>T (p.Val3478Phe) c.10157-9763G>T (n.10157-9763G>T) c.5218G>T (p.Val1740Phe) n.535+6610C>A n.403+6610C>A c.11068G>T (p.Val3690Phe) c.10948G>T (p.Val3650Phe) c.10879G>T (p.Val3627Phe) c.9283G>T (p.Val3095Phe) n.11419G>T n.3145+6610C>A n.3013+6610C>A | |
6 | g.51658983C>G | CA364429856 | PKHD1 | c.11143G>C (p.Val3715Leu) c.11014G>C (p.Val3672Leu) c.11005G>C (p.Val3669Leu) c.10501G>C (p.Val3501Leu) c.10432G>C (p.Val3478Leu) c.10157-9763G>C (n.10157-9763G>C) c.5218G>C (p.Val1740Leu) n.535+6610C>G n.403+6610C>G c.11068G>C (p.Val3690Leu) c.10948G>C (p.Val3650Leu) c.10879G>C (p.Val3627Leu) c.9283G>C (p.Val3095Leu) n.11419G>C n.3145+6610C>G n.3013+6610C>G | |
6 | g.51658983C>T | CA364429864 | PKHD1 | c.11143G>A (p.Val3715Ile) c.11014G>A (p.Val3672Ile) c.11005G>A (p.Val3669Ile) c.10501G>A (p.Val3501Ile) c.10432G>A (p.Val3478Ile) c.10157-9763G>A (n.10157-9763G>A) c.5218G>A (p.Val1740Ile) n.535+6610C>T n.403+6610C>T c.11068G>A (p.Val3690Ile) c.10948G>A (p.Val3650Ile) c.10879G>A (p.Val3627Ile) c.9283G>A (p.Val3095Ile) n.11419G>A n.3145+6610C>T n.3013+6610C>T | |
6 | g.51658984T>A | CA450612621 | PKHD1 | c.11142A>T (p.Leu3714=) c.11013A>T (p.Leu3671=) c.11004A>T (p.Leu3668=) c.10500A>T (p.Leu3500=) c.10431A>T (p.Leu3477=) c.10157-9764A>T (n.10157-9764A>T) c.5217A>T (p.Leu1739=) n.535+6611T>A n.403+6611T>A c.11067A>T (p.Leu3689=) c.10947A>T (p.Leu3649=) c.10878A>T (p.Leu3626=) c.9282A>T (p.Leu3094=) n.11418A>T n.3145+6611T>A n.3013+6611T>A | |
6 | g.51658984T>C | CA450612620 | PKHD1 | c.11142A>G (p.Leu3714=) c.11013A>G (p.Leu3671=) c.11004A>G (p.Leu3668=) c.10500A>G (p.Leu3500=) c.10431A>G (p.Leu3477=) c.10157-9764A>G (n.10157-9764A>G) c.5217A>G (p.Leu1739=) n.535+6611T>C n.403+6611T>C c.11067A>G (p.Leu3689=) c.10947A>G (p.Leu3649=) c.10878A>G (p.Leu3626=) c.9282A>G (p.Leu3094=) n.11418A>G n.3145+6611T>C n.3013+6611T>C | ClinVar dbSNP gnomAD v4 |
6 | g.51658984T>G | CA450612619 | PKHD1 | c.11142A>C (p.Leu3714=) c.11013A>C (p.Leu3671=) c.11004A>C (p.Leu3668=) c.10500A>C (p.Leu3500=) c.10431A>C (p.Leu3477=) c.10157-9764A>C (n.10157-9764A>C) c.5217A>C (p.Leu1739=) n.535+6611T>G n.403+6611T>G c.11067A>C (p.Leu3689=) c.10947A>C (p.Leu3649=) c.10878A>C (p.Leu3626=) c.9282A>C (p.Leu3094=) n.11418A>C n.3145+6611T>G n.3013+6611T>G | gnomAD v4 |
6 | g.51658984T= | CA1628438203 | PKHD1 | c.11142A= (p.Leu3714=) c.11013A= (p.Leu3671=) c.11004A= (p.Leu3668=) c.10500A= (p.Leu3500=) c.10431A= (p.Leu3477=) c.10157-9764A= (n.10157-9764A=) c.5217A= (p.Leu1739=) n.535+6611T= n.403+6611T= c.11067A= (p.Leu3689=) c.10947A= (p.Leu3649=) c.10878A= (p.Leu3626=) c.9282A= (p.Leu3094=) n.11418A= n.3145+6611T= n.3013+6611T= | |
6 | g.51658985A>C | CA364429866 | PKHD1 | c.11141T>G (p.Leu3714Arg) c.11012T>G (p.Leu3671Arg) c.11003T>G (p.Leu3668Arg) c.10499T>G (p.Leu3500Arg) c.10430T>G (p.Leu3477Arg) c.10157-9765T>G (n.10157-9765T>G) c.5216T>G (p.Leu1739Arg) n.535+6612A>C n.403+6612A>C c.11066T>G (p.Leu3689Arg) c.10946T>G (p.Leu3649Arg) c.10877T>G (p.Leu3626Arg) c.9281T>G (p.Leu3094Arg) n.11417T>G n.3145+6612A>C n.3013+6612A>C | |
6 | g.51658985A>G | CA364429868 | PKHD1 | c.11141T>C (p.Leu3714Pro) c.11012T>C (p.Leu3671Pro) c.11003T>C (p.Leu3668Pro) c.10499T>C (p.Leu3500Pro) c.10430T>C (p.Leu3477Pro) c.10157-9765T>C (n.10157-9765T>C) c.5216T>C (p.Leu1739Pro) n.535+6612A>G n.403+6612A>G c.11066T>C (p.Leu3689Pro) c.10946T>C (p.Leu3649Pro) c.10877T>C (p.Leu3626Pro) c.9281T>C (p.Leu3094Pro) n.11417T>C n.3145+6612A>G n.3013+6612A>G | |
6 | g.51658985A>T | CA364429870 | PKHD1 | c.11141T>A (p.Leu3714Gln) c.11012T>A (p.Leu3671Gln) c.11003T>A (p.Leu3668Gln) c.10499T>A (p.Leu3500Gln) c.10430T>A (p.Leu3477Gln) c.10157-9765T>A (n.10157-9765T>A) c.5216T>A (p.Leu1739Gln) n.535+6612A>T n.403+6612A>T c.11066T>A (p.Leu3689Gln) c.10946T>A (p.Leu3649Gln) c.10877T>A (p.Leu3626Gln) c.9281T>A (p.Leu3094Gln) n.11417T>A n.3145+6612A>T n.3013+6612A>T | |
6 | g.51658986G>A | CA450612622 | PKHD1 | c.11140C>T (p.Leu3714=) c.11011C>T (p.Leu3671=) c.11002C>T (p.Leu3668=) c.10498C>T (p.Leu3500=) c.10429C>T (p.Leu3477=) c.10157-9766C>T (n.10157-9766C>T) c.5215C>T (p.Leu1739=) n.535+6613G>A n.403+6613G>A c.11065C>T (p.Leu3689=) c.10945C>T (p.Leu3649=) c.10876C>T (p.Leu3626=) c.9280C>T (p.Leu3094=) n.11416C>T n.3145+6613G>A n.3013+6613G>A | |
6 | g.51658986G>C | CA364429872 | PKHD1 | c.11140C>G (p.Leu3714Val) c.11011C>G (p.Leu3671Val) c.11002C>G (p.Leu3668Val) c.10498C>G (p.Leu3500Val) c.10429C>G (p.Leu3477Val) c.10157-9766C>G (n.10157-9766C>G) c.5215C>G (p.Leu1739Val) n.535+6613G>C n.403+6613G>C c.11065C>G (p.Leu3689Val) c.10945C>G (p.Leu3649Val) c.10876C>G (p.Leu3626Val) c.9280C>G (p.Leu3094Val) n.11416C>G n.3145+6613G>C n.3013+6613G>C | |
6 | g.51658986G>T | CA364429873 | PKHD1 | c.11140C>A (p.Leu3714Ile) c.11011C>A (p.Leu3671Ile) c.11002C>A (p.Leu3668Ile) c.10498C>A (p.Leu3500Ile) c.10429C>A (p.Leu3477Ile) c.10157-9766C>A (n.10157-9766C>A) c.5215C>A (p.Leu1739Ile) n.535+6613G>T n.403+6613G>T c.11065C>A (p.Leu3689Ile) c.10945C>A (p.Leu3649Ile) c.10876C>A (p.Leu3626Ile) c.9280C>A (p.Leu3094Ile) n.11416C>A n.3145+6613G>T n.3013+6613G>T | |
6 | g.51658987T>A | CA3850953 | PKHD1 | c.11139A>T (p.Leu3713Phe) c.11010A>T (p.Leu3670Phe) c.11001A>T (p.Leu3667Phe) c.10497A>T (p.Leu3499Phe) c.10428A>T (p.Leu3476Phe) c.10157-9767A>T (n.10157-9767A>T) c.5214A>T (p.Leu1738Phe) n.535+6614T>A n.403+6614T>A c.11064A>T (p.Leu3688Phe) c.10944A>T (p.Leu3648Phe) c.10875A>T (p.Leu3625Phe) c.9279A>T (p.Leu3093Phe) n.11415A>T n.3145+6614T>A n.3013+6614T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51658987T>C | CA450612623 | PKHD1 | c.11139A>G (p.Leu3713=) c.11010A>G (p.Leu3670=) c.11001A>G (p.Leu3667=) c.10497A>G (p.Leu3499=) c.10428A>G (p.Leu3476=) c.10157-9767A>G (n.10157-9767A>G) c.5214A>G (p.Leu1738=) n.535+6614T>C n.403+6614T>C c.11064A>G (p.Leu3688=) c.10944A>G (p.Leu3648=) c.10875A>G (p.Leu3625=) c.9279A>G (p.Leu3093=) n.11415A>G n.3145+6614T>C n.3013+6614T>C | gnomAD v4 |
6 | g.51658987T>G | CA364429875 | PKHD1 | c.11139A>C (p.Leu3713Phe) c.11010A>C (p.Leu3670Phe) c.11001A>C (p.Leu3667Phe) c.10497A>C (p.Leu3499Phe) c.10428A>C (p.Leu3476Phe) c.10157-9767A>C (n.10157-9767A>C) c.5214A>C (p.Leu1738Phe) n.535+6614T>G n.403+6614T>G c.11064A>C (p.Leu3688Phe) c.10944A>C (p.Leu3648Phe) c.10875A>C (p.Leu3625Phe) c.9279A>C (p.Leu3093Phe) n.11415A>C n.3145+6614T>G n.3013+6614T>G | dbSNP |
6 | g.51658987T= | CA1628438206 | PKHD1 | c.11139A= (p.Leu3713=) c.11010A= (p.Leu3670=) c.11001A= (p.Leu3667=) c.10497A= (p.Leu3499=) c.10428A= (p.Leu3476=) c.10157-9767A= (n.10157-9767A=) c.5214A= (p.Leu1738=) n.535+6614T= n.403+6614T= c.11064A= (p.Leu3688=) c.10944A= (p.Leu3648=) c.10875A= (p.Leu3625=) c.9279A= (p.Leu3093=) n.11415A= n.3145+6614T= n.3013+6614T= | |
6 | g.51658988A>C | CA364429878 | PKHD1 | c.11138T>G (p.Leu3713Ter) c.11009T>G (p.Leu3670Ter) c.11000T>G (p.Leu3667Ter) c.10496T>G (p.Leu3499Ter) c.10427T>G (p.Leu3476Ter) c.10157-9768T>G (n.10157-9768T>G) c.5213T>G (p.Leu1738Ter) n.535+6615A>C n.403+6615A>C c.11063T>G (p.Leu3688Ter) c.10943T>G (p.Leu3648Ter) c.10874T>G (p.Leu3625Ter) c.9278T>G (p.Leu3093Ter) n.11414T>G n.3145+6615A>C n.3013+6615A>C | |
6 | g.51658988A>G | CA364429876 | PKHD1 | c.11138T>C (p.Leu3713Ser) c.11009T>C (p.Leu3670Ser) c.11000T>C (p.Leu3667Ser) c.10496T>C (p.Leu3499Ser) c.10427T>C (p.Leu3476Ser) c.10157-9768T>C (n.10157-9768T>C) c.5213T>C (p.Leu1738Ser) n.535+6615A>G n.403+6615A>G c.11063T>C (p.Leu3688Ser) c.10943T>C (p.Leu3648Ser) c.10874T>C (p.Leu3625Ser) c.9278T>C (p.Leu3093Ser) n.11414T>C n.3145+6615A>G n.3013+6615A>G | |
6 | g.51658988A>T | CA364429877 | PKHD1 | c.11138T>A (p.Leu3713Ter) c.11009T>A (p.Leu3670Ter) c.11000T>A (p.Leu3667Ter) c.10496T>A (p.Leu3499Ter) c.10427T>A (p.Leu3476Ter) c.10157-9768T>A (n.10157-9768T>A) c.5213T>A (p.Leu1738Ter) n.535+6615A>T n.403+6615A>T c.11063T>A (p.Leu3688Ter) c.10943T>A (p.Leu3648Ter) c.10874T>A (p.Leu3625Ter) c.9278T>A (p.Leu3093Ter) n.11414T>A n.3145+6615A>T n.3013+6615A>T | |
6 | g.51658989A>C | CA364429880 | PKHD1 | c.11137T>G (p.Leu3713Val) c.11008T>G (p.Leu3670Val) c.10999T>G (p.Leu3667Val) c.10495T>G (p.Leu3499Val) c.10426T>G (p.Leu3476Val) c.10157-9769T>G (n.10157-9769T>G) c.5212T>G (p.Leu1738Val) n.535+6616A>C n.403+6616A>C c.11062T>G (p.Leu3688Val) c.10942T>G (p.Leu3648Val) c.10873T>G (p.Leu3625Val) c.9277T>G (p.Leu3093Val) n.11413T>G n.3145+6616A>C n.3013+6616A>C | |
6 | g.51658989A>G | CA450612624 | PKHD1 | c.11137T>C (p.Leu3713=) c.11008T>C (p.Leu3670=) c.10999T>C (p.Leu3667=) c.10495T>C (p.Leu3499=) c.10426T>C (p.Leu3476=) c.10157-9769T>C (n.10157-9769T>C) c.5212T>C (p.Leu1738=) n.535+6616A>G n.403+6616A>G c.11062T>C (p.Leu3688=) c.10942T>C (p.Leu3648=) c.10873T>C (p.Leu3625=) c.9277T>C (p.Leu3093=) n.11413T>C n.3145+6616A>G n.3013+6616A>G | |
6 | g.51658989A>T | CA364429881 | PKHD1 | c.11137T>A (p.Leu3713Ile) c.11008T>A (p.Leu3670Ile) c.10999T>A (p.Leu3667Ile) c.10495T>A (p.Leu3499Ile) c.10426T>A (p.Leu3476Ile) c.10157-9769T>A (n.10157-9769T>A) c.5212T>A (p.Leu1738Ile) n.535+6616A>T n.403+6616A>T c.11062T>A (p.Leu3688Ile) c.10942T>A (p.Leu3648Ile) c.10873T>A (p.Leu3625Ile) c.9277T>A (p.Leu3093Ile) n.11413T>A n.3145+6616A>T n.3013+6616A>T | |
6 | g.51658990G>A | CA138896926 | PKHD1 | c.11136C>T (p.Ala3712=) c.11007C>T (p.Ala3669=) c.10998C>T (p.Ala3666=) c.10494C>T (p.Ala3498=) c.10425C>T (p.Ala3475=) c.10157-9770C>T (n.10157-9770C>T) c.5211C>T (p.Ala1737=) n.535+6617G>A n.403+6617G>A c.11061C>T (p.Ala3687=) c.10941C>T (p.Ala3647=) c.10872C>T (p.Ala3624=) c.9276C>T (p.Ala3092=) n.11412C>T n.3145+6617G>A n.3013+6617G>A | ClinVar dbSNP |
6 | g.51658990G>C | CA450612626 | PKHD1 | c.11136C>G (p.Ala3712=) c.11007C>G (p.Ala3669=) c.10998C>G (p.Ala3666=) c.10494C>G (p.Ala3498=) c.10425C>G (p.Ala3475=) c.10157-9770C>G (n.10157-9770C>G) c.5211C>G (p.Ala1737=) n.535+6617G>C n.403+6617G>C c.11061C>G (p.Ala3687=) c.10941C>G (p.Ala3647=) c.10872C>G (p.Ala3624=) c.9276C>G (p.Ala3092=) n.11412C>G n.3145+6617G>C n.3013+6617G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.51658990G= | CA1628438209 | PKHD1 | c.11136C= (p.Ala3712=) c.11007C= (p.Ala3669=) c.10998C= (p.Ala3666=) c.10494C= (p.Ala3498=) c.10425C= (p.Ala3475=) c.10157-9770C= (n.10157-9770C=) c.5211C= (p.Ala1737=) n.535+6617G= n.403+6617G= c.11061C= (p.Ala3687=) c.10941C= (p.Ala3647=) c.10872C= (p.Ala3624=) c.9276C= (p.Ala3092=) n.11412C= n.3145+6617G= n.3013+6617G= | |
6 | g.51658990G>T | CA450612625 | PKHD1 | c.11136C>A (p.Ala3712=) c.11007C>A (p.Ala3669=) c.10998C>A (p.Ala3666=) c.10494C>A (p.Ala3498=) c.10425C>A (p.Ala3475=) c.10157-9770C>A (n.10157-9770C>A) c.5211C>A (p.Ala1737=) n.535+6617G>T n.403+6617G>T c.11061C>A (p.Ala3687=) c.10941C>A (p.Ala3647=) c.10872C>A (p.Ala3624=) c.9276C>A (p.Ala3092=) n.11412C>A n.3145+6617G>T n.3013+6617G>T | |
6 | g.51658991G>A | CA364429883 | PKHD1 | c.11135C>T (p.Ala3712Val) c.11006C>T (p.Ala3669Val) c.10997C>T (p.Ala3666Val) c.10493C>T (p.Ala3498Val) c.10424C>T (p.Ala3475Val) c.10157-9771C>T (n.10157-9771C>T) c.5210C>T (p.Ala1737Val) n.535+6618G>A n.403+6618G>A c.11060C>T (p.Ala3687Val) c.10940C>T (p.Ala3647Val) c.10871C>T (p.Ala3624Val) c.9275C>T (p.Ala3092Val) n.11411C>T n.3145+6618G>A n.3013+6618G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51658991G>C | CA364429884 | PKHD1 | c.11135C>G (p.Ala3712Gly) c.11006C>G (p.Ala3669Gly) c.10997C>G (p.Ala3666Gly) c.10493C>G (p.Ala3498Gly) c.10424C>G (p.Ala3475Gly) c.10157-9771C>G (n.10157-9771C>G) c.5210C>G (p.Ala1737Gly) n.535+6618G>C n.403+6618G>C c.11060C>G (p.Ala3687Gly) c.10940C>G (p.Ala3647Gly) c.10871C>G (p.Ala3624Gly) c.9275C>G (p.Ala3092Gly) n.11411C>G n.3145+6618G>C n.3013+6618G>C | |
6 | g.51658991G= | CA1628438212 | PKHD1 | c.11135C= (p.Ala3712=) c.11006C= (p.Ala3669=) c.10997C= (p.Ala3666=) c.10493C= (p.Ala3498=) c.10424C= (p.Ala3475=) c.10157-9771C= (n.10157-9771C=) c.5210C= (p.Ala1737=) n.535+6618G= n.403+6618G= c.11060C= (p.Ala3687=) c.10940C= (p.Ala3647=) c.10871C= (p.Ala3624=) c.9275C= (p.Ala3092=) n.11411C= n.3145+6618G= n.3013+6618G= | |
6 | g.51658991G>T | CA364429886 | PKHD1 | c.11135C>A (p.Ala3712Asp) c.11006C>A (p.Ala3669Asp) c.10997C>A (p.Ala3666Asp) c.10493C>A (p.Ala3498Asp) c.10424C>A (p.Ala3475Asp) c.10157-9771C>A (n.10157-9771C>A) c.5210C>A (p.Ala1737Asp) n.535+6618G>T n.403+6618G>T c.11060C>A (p.Ala3687Asp) c.10940C>A (p.Ala3647Asp) c.10871C>A (p.Ala3624Asp) c.9275C>A (p.Ala3092Asp) n.11411C>A n.3145+6618G>T n.3013+6618G>T | |
6 | g.51658992C>A | CA364429889 | PKHD1 | c.11134G>T (p.Ala3712Ser) c.11005G>T (p.Ala3669Ser) c.10996G>T (p.Ala3666Ser) c.10492G>T (p.Ala3498Ser) c.10423G>T (p.Ala3475Ser) c.10157-9772G>T (n.10157-9772G>T) c.5209G>T (p.Ala1737Ser) n.535+6619C>A n.403+6619C>A c.11059G>T (p.Ala3687Ser) c.10939G>T (p.Ala3647Ser) c.10870G>T (p.Ala3624Ser) c.9274G>T (p.Ala3092Ser) n.11410G>T n.3145+6619C>A n.3013+6619C>A | gnomAD v4 |
6 | g.51658992C= | CA1628438218 | PKHD1 | c.11134G= (p.Ala3712=) c.11005G= (p.Ala3669=) c.10996G= (p.Ala3666=) c.10492G= (p.Ala3498=) c.10423G= (p.Ala3475=) c.10157-9772G= (n.10157-9772G=) c.5209G= (p.Ala1737=) n.535+6619C= n.403+6619C= c.11059G= (p.Ala3687=) c.10939G= (p.Ala3647=) c.10870G= (p.Ala3624=) c.9274G= (p.Ala3092=) n.11410G= n.3145+6619C= n.3013+6619C= | |
6 | g.51658992C>G | CA364429890 | PKHD1 | c.11134G>C (p.Ala3712Pro) c.11005G>C (p.Ala3669Pro) c.10996G>C (p.Ala3666Pro) c.10492G>C (p.Ala3498Pro) c.10423G>C (p.Ala3475Pro) c.10157-9772G>C (n.10157-9772G>C) c.5209G>C (p.Ala1737Pro) n.535+6619C>G n.403+6619C>G c.11059G>C (p.Ala3687Pro) c.10939G>C (p.Ala3647Pro) c.10870G>C (p.Ala3624Pro) c.9274G>C (p.Ala3092Pro) n.11410G>C n.3145+6619C>G n.3013+6619C>G | |
6 | g.51658992C>T | CA3850954 | PKHD1 | c.11134G>A (p.Ala3712Thr) c.11005G>A (p.Ala3669Thr) c.10996G>A (p.Ala3666Thr) c.10492G>A (p.Ala3498Thr) c.10423G>A (p.Ala3475Thr) c.10157-9772G>A (n.10157-9772G>A) c.5209G>A (p.Ala1737Thr) n.535+6619C>T n.403+6619C>T c.11059G>A (p.Ala3687Thr) c.10939G>A (p.Ala3647Thr) c.10870G>A (p.Ala3624Thr) c.9274G>A (p.Ala3092Thr) n.11410G>A n.3145+6619C>T n.3013+6619C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51658995dup | CA1628438217 | PKHD1 | c.11134dup (p.Ala3712GlyfsTer20) c.11005dup (p.Ala3669GlyfsTer20) c.10996dup (p.Ala3666GlyfsTer20) c.10492dup (p.Ala3498GlyfsTer20) c.10423dup (p.Ala3475GlyfsTer20) c.10157-9772dup (n.10157-9772dup) c.5209dup (p.Ala1737GlyfsTer20) n.535+6622dup n.403+6622dup c.11059dup (p.Ala3687GlyfsTer20) c.10939dup (p.Ala3647GlyfsTer20) c.10870dup (p.Ala3624GlyfsTer20) c.9274dup (p.Ala3092GlyfsTer20) n.11410dup n.3145+6622dup n.3013+6622dup | dbSNP |
6 | g.51658993C>A | CA450612627 | PKHD1 | c.11133G>T (p.Gly3711=) c.11004G>T (p.Gly3668=) c.10995G>T (p.Gly3665=) c.10491G>T (p.Gly3497=) c.10422G>T (p.Gly3474=) c.10157-9773G>T (n.10157-9773G>T) c.5208G>T (p.Gly1736=) n.535+6620C>A n.403+6620C>A c.11058G>T (p.Gly3686=) c.10938G>T (p.Gly3646=) c.10869G>T (p.Gly3623=) c.9273G>T (p.Gly3091=) n.11409G>T n.3145+6620C>A n.3013+6620C>A | |
6 | g.51658993C= | CA1628438221 | PKHD1 | c.11133G= (p.Gly3711=) c.11004G= (p.Gly3668=) c.10995G= (p.Gly3665=) c.10491G= (p.Gly3497=) c.10422G= (p.Gly3474=) c.10157-9773G= (n.10157-9773G=) c.5208G= (p.Gly1736=) n.535+6620C= n.403+6620C= c.11058G= (p.Gly3686=) c.10938G= (p.Gly3646=) c.10869G= (p.Gly3623=) c.9273G= (p.Gly3091=) n.11409G= n.3145+6620C= n.3013+6620C= | |
6 | g.51658993C>G | CA450612628 | PKHD1 | c.11133G>C (p.Gly3711=) c.11004G>C (p.Gly3668=) c.10995G>C (p.Gly3665=) c.10491G>C (p.Gly3497=) c.10422G>C (p.Gly3474=) c.10157-9773G>C (n.10157-9773G>C) c.5208G>C (p.Gly1736=) n.535+6620C>G n.403+6620C>G c.11058G>C (p.Gly3686=) c.10938G>C (p.Gly3646=) c.10869G>C (p.Gly3623=) c.9273G>C (p.Gly3091=) n.11409G>C n.3145+6620C>G n.3013+6620C>G | |
6 | g.51658993C>T | CA3850955 | PKHD1 | c.11133G>A (p.Gly3711=) c.11004G>A (p.Gly3668=) c.10995G>A (p.Gly3665=) c.10491G>A (p.Gly3497=) c.10422G>A (p.Gly3474=) c.10157-9773G>A (n.10157-9773G>A) c.5208G>A (p.Gly1736=) n.535+6620C>T n.403+6620C>T c.11058G>A (p.Gly3686=) c.10938G>A (p.Gly3646=) c.10869G>A (p.Gly3623=) c.9273G>A (p.Gly3091=) n.11409G>A n.3145+6620C>T n.3013+6620C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51658994C>A | CA364429893 | PKHD1 | c.11132G>T (p.Gly3711Val) c.11003G>T (p.Gly3668Val) c.10994G>T (p.Gly3665Val) c.10490G>T (p.Gly3497Val) c.10421G>T (p.Gly3474Val) c.10157-9774G>T (n.10157-9774G>T) c.5207G>T (p.Gly1736Val) n.535+6621C>A n.403+6621C>A c.11057G>T (p.Gly3686Val) c.10937G>T (p.Gly3646Val) c.10868G>T (p.Gly3623Val) c.9272G>T (p.Gly3091Val) n.11408G>T n.3145+6621C>A n.3013+6621C>A | |
6 | g.51658994C>G | CA364429898 | PKHD1 | c.11132G>C (p.Gly3711Ala) c.11003G>C (p.Gly3668Ala) c.10994G>C (p.Gly3665Ala) c.10490G>C (p.Gly3497Ala) c.10421G>C (p.Gly3474Ala) c.10157-9774G>C (n.10157-9774G>C) c.5207G>C (p.Gly1736Ala) n.535+6621C>G n.403+6621C>G c.11057G>C (p.Gly3686Ala) c.10937G>C (p.Gly3646Ala) c.10868G>C (p.Gly3623Ala) c.9272G>C (p.Gly3091Ala) n.11408G>C n.3145+6621C>G n.3013+6621C>G | |
6 | g.51658994C>T | CA364429900 | PKHD1 | c.11132G>A (p.Gly3711Glu) c.11003G>A (p.Gly3668Glu) c.10994G>A (p.Gly3665Glu) c.10490G>A (p.Gly3497Glu) c.10421G>A (p.Gly3474Glu) c.10157-9774G>A (n.10157-9774G>A) c.5207G>A (p.Gly1736Glu) n.535+6621C>T n.403+6621C>T c.11057G>A (p.Gly3686Glu) c.10937G>A (p.Gly3646Glu) c.10868G>A (p.Gly3623Glu) c.9272G>A (p.Gly3091Glu) n.11408G>A n.3145+6621C>T n.3013+6621C>T | |
6 | g.51658995C>A | CA364429902 | PKHD1 | c.11131G>T (p.Gly3711Trp) c.11002G>T (p.Gly3668Trp) c.10993G>T (p.Gly3665Trp) c.10489G>T (p.Gly3497Trp) c.10420G>T (p.Gly3474Trp) c.10157-9775G>T (n.10157-9775G>T) c.5206G>T (p.Gly1736Trp) n.535+6622C>A n.403+6622C>A c.11056G>T (p.Gly3686Trp) c.10936G>T (p.Gly3646Trp) c.10867G>T (p.Gly3623Trp) c.9271G>T (p.Gly3091Trp) n.11407G>T n.3145+6622C>A n.3013+6622C>A | |
6 | g.51658995C= | CA1628438225 | PKHD1 | c.11131G= (p.Gly3711=) c.11002G= (p.Gly3668=) c.10993G= (p.Gly3665=) c.10489G= (p.Gly3497=) c.10420G= (p.Gly3474=) c.10157-9775G= (n.10157-9775G=) c.5206G= (p.Gly1736=) n.535+6622C= n.403+6622C= c.11056G= (p.Gly3686=) c.10936G= (p.Gly3646=) c.10867G= (p.Gly3623=) c.9271G= (p.Gly3091=) n.11407G= n.3145+6622C= n.3013+6622C= | |
6 | g.51658995C>G | CA364429903 | PKHD1 | c.11131G>C (p.Gly3711Arg) c.11002G>C (p.Gly3668Arg) c.10993G>C (p.Gly3665Arg) c.10489G>C (p.Gly3497Arg) c.10420G>C (p.Gly3474Arg) c.10157-9775G>C (n.10157-9775G>C) c.5206G>C (p.Gly1736Arg) n.535+6622C>G n.403+6622C>G c.11056G>C (p.Gly3686Arg) c.10936G>C (p.Gly3646Arg) c.10867G>C (p.Gly3623Arg) c.9271G>C (p.Gly3091Arg) n.11407G>C n.3145+6622C>G n.3013+6622C>G | COSMIC |
6 | g.51658995C>T | CA3850956 | PKHD1 | c.11131G>A (p.Gly3711Arg) c.11002G>A (p.Gly3668Arg) c.10993G>A (p.Gly3665Arg) c.10489G>A (p.Gly3497Arg) c.10420G>A (p.Gly3474Arg) c.10157-9775G>A (n.10157-9775G>A) c.5206G>A (p.Gly1736Arg) n.535+6622C>T n.403+6622C>T c.11056G>A (p.Gly3686Arg) c.10936G>A (p.Gly3646Arg) c.10867G>A (p.Gly3623Arg) c.9271G>A (p.Gly3091Arg) n.11407G>A n.3145+6622C>T n.3013+6622C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51658996G>A | CA246899 | PKHD1 | c.11130C>T (p.Ile3710=) c.11001C>T (p.Ile3667=) c.10992C>T (p.Ile3664=) c.10488C>T (p.Ile3496=) c.10419C>T (p.Ile3473=) c.10157-9776C>T (n.10157-9776C>T) c.5205C>T (p.Ile1735=) n.535+6623G>A n.403+6623G>A c.11055C>T (p.Ile3685=) c.10935C>T (p.Ile3645=) c.10866C>T (p.Ile3622=) c.9270C>T (p.Ile3090=) n.11406C>T n.3145+6623G>A n.3013+6623G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51658996G>C | CA364429907 | PKHD1 | c.11130C>G (p.Ile3710Met) c.11001C>G (p.Ile3667Met) c.10992C>G (p.Ile3664Met) c.10488C>G (p.Ile3496Met) c.10419C>G (p.Ile3473Met) c.10157-9776C>G (n.10157-9776C>G) c.5205C>G (p.Ile1735Met) n.535+6623G>C n.403+6623G>C c.11055C>G (p.Ile3685Met) c.10935C>G (p.Ile3645Met) c.10866C>G (p.Ile3622Met) c.9270C>G (p.Ile3090Met) n.11406C>G n.3145+6623G>C n.3013+6623G>C | |
6 | g.51658996G= | CA1628438231 | PKHD1 | c.11130C= (p.Ile3710=) c.11001C= (p.Ile3667=) c.10992C= (p.Ile3664=) c.10488C= (p.Ile3496=) c.10419C= (p.Ile3473=) c.10157-9776C= (n.10157-9776C=) c.5205C= (p.Ile1735=) n.535+6623G= n.403+6623G= c.11055C= (p.Ile3685=) c.10935C= (p.Ile3645=) c.10866C= (p.Ile3622=) c.9270C= (p.Ile3090=) n.11406C= n.3145+6623G= n.3013+6623G= | |
6 | g.51658996G>T | CA450612629 | PKHD1 | c.11130C>A (p.Ile3710=) c.11001C>A (p.Ile3667=) c.10992C>A (p.Ile3664=) c.10488C>A (p.Ile3496=) c.10419C>A (p.Ile3473=) c.10157-9776C>A (n.10157-9776C>A) c.5205C>A (p.Ile1735=) n.535+6623G>T n.403+6623G>T c.11055C>A (p.Ile3685=) c.10935C>A (p.Ile3645=) c.10866C>A (p.Ile3622=) c.9270C>A (p.Ile3090=) n.11406C>A n.3145+6623G>T n.3013+6623G>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51658997A= | CA1628438238 | PKHD1 | c.11129T= (p.Ile3710=) c.11000T= (p.Ile3667=) c.10991T= (p.Ile3664=) c.10487T= (p.Ile3496=) c.10418T= (p.Ile3473=) c.10157-9777T= (n.10157-9777T=) c.5204T= (p.Ile1735=) n.535+6624A= n.403+6624A= c.11054T= (p.Ile3685=) c.10934T= (p.Ile3645=) c.10865T= (p.Ile3622=) c.9269T= (p.Ile3090=) n.11405T= n.3145+6624A= n.3013+6624A= | |
6 | g.51658997A>C | CA364429910 | PKHD1 | c.11129T>G (p.Ile3710Ser) c.11000T>G (p.Ile3667Ser) c.10991T>G (p.Ile3664Ser) c.10487T>G (p.Ile3496Ser) c.10418T>G (p.Ile3473Ser) c.10157-9777T>G (n.10157-9777T>G) c.5204T>G (p.Ile1735Ser) n.535+6624A>C n.403+6624A>C c.11054T>G (p.Ile3685Ser) c.10934T>G (p.Ile3645Ser) c.10865T>G (p.Ile3622Ser) c.9269T>G (p.Ile3090Ser) n.11405T>G n.3145+6624A>C n.3013+6624A>C | |
6 | g.51658997A>G | CA364429912 | PKHD1 | c.11129T>C (p.Ile3710Thr) c.11000T>C (p.Ile3667Thr) c.10991T>C (p.Ile3664Thr) c.10487T>C (p.Ile3496Thr) c.10418T>C (p.Ile3473Thr) c.10157-9777T>C (n.10157-9777T>C) c.5204T>C (p.Ile1735Thr) n.535+6624A>G n.403+6624A>G c.11054T>C (p.Ile3685Thr) c.10934T>C (p.Ile3645Thr) c.10865T>C (p.Ile3622Thr) c.9269T>C (p.Ile3090Thr) n.11405T>C n.3145+6624A>G n.3013+6624A>G | dbSNP |
6 | g.51658997A>T | CA364429913 | PKHD1 | c.11129T>A (p.Ile3710Asn) c.11000T>A (p.Ile3667Asn) c.10991T>A (p.Ile3664Asn) c.10487T>A (p.Ile3496Asn) c.10418T>A (p.Ile3473Asn) c.10157-9777T>A (n.10157-9777T>A) c.5204T>A (p.Ile1735Asn) n.535+6624A>T n.403+6624A>T c.11054T>A (p.Ile3685Asn) c.10934T>A (p.Ile3645Asn) c.10865T>A (p.Ile3622Asn) c.9269T>A (p.Ile3090Asn) n.11405T>A n.3145+6624A>T n.3013+6624A>T | |
6 | g.51658998T>A | CA364429915 | PKHD1 | c.11128A>T (p.Ile3710Phe) c.10999A>T (p.Ile3667Phe) c.10990A>T (p.Ile3664Phe) c.10486A>T (p.Ile3496Phe) c.10417A>T (p.Ile3473Phe) c.10157-9778A>T (n.10157-9778A>T) c.5203A>T (p.Ile1735Phe) n.535+6625T>A n.403+6625T>A c.11053A>T (p.Ile3685Phe) c.10933A>T (p.Ile3645Phe) c.10864A>T (p.Ile3622Phe) c.9268A>T (p.Ile3090Phe) n.11404A>T n.3145+6625T>A n.3013+6625T>A | |
6 | g.51658998T>C | CA138896948 | PKHD1 | c.11128A>G (p.Ile3710Val) c.10999A>G (p.Ile3667Val) c.10990A>G (p.Ile3664Val) c.10486A>G (p.Ile3496Val) c.10417A>G (p.Ile3473Val) c.10157-9778A>G (n.10157-9778A>G) c.5203A>G (p.Ile1735Val) n.535+6625T>C n.403+6625T>C c.11053A>G (p.Ile3685Val) c.10933A>G (p.Ile3645Val) c.10864A>G (p.Ile3622Val) c.9268A>G (p.Ile3090Val) n.11404A>G n.3145+6625T>C n.3013+6625T>C | dbSNP gnomAD v4 |
6 | g.51658998T>G | CA364429918 | PKHD1 | c.11128A>C (p.Ile3710Leu) c.10999A>C (p.Ile3667Leu) c.10990A>C (p.Ile3664Leu) c.10486A>C (p.Ile3496Leu) c.10417A>C (p.Ile3473Leu) c.10157-9778A>C (n.10157-9778A>C) c.5203A>C (p.Ile1735Leu) n.535+6625T>G n.403+6625T>G c.11053A>C (p.Ile3685Leu) c.10933A>C (p.Ile3645Leu) c.10864A>C (p.Ile3622Leu) c.9268A>C (p.Ile3090Leu) n.11404A>C n.3145+6625T>G n.3013+6625T>G | |
6 | g.51658998T= | CA1628438242 | PKHD1 | c.11128A= (p.Ile3710=) c.10999A= (p.Ile3667=) c.10990A= (p.Ile3664=) c.10486A= (p.Ile3496=) c.10417A= (p.Ile3473=) c.10157-9778A= (n.10157-9778A=) c.5203A= (p.Ile1735=) n.535+6625T= n.403+6625T= c.11053A= (p.Ile3685=) c.10933A= (p.Ile3645=) c.10864A= (p.Ile3622=) c.9268A= (p.Ile3090=) n.11404A= n.3145+6625T= n.3013+6625T= | |
6 | g.51658999A= | CA1628438244 | PKHD1 | c.11127T= (p.Thr3709=) c.10998T= (p.Thr3666=) c.10989T= (p.Thr3663=) c.10485T= (p.Thr3495=) c.10416T= (p.Thr3472=) c.10157-9779T= (n.10157-9779T=) c.5202T= (p.Thr1734=) n.535+6626A= n.403+6626A= c.11052T= (p.Thr3684=) c.10932T= (p.Thr3644=) c.10863T= (p.Thr3621=) c.9267T= (p.Thr3089=) n.11403T= n.3145+6626A= n.3013+6626A= | |
6 | g.51658999A>C | CA450612630 | PKHD1 | c.11127T>G (p.Thr3709=) c.10998T>G (p.Thr3666=) c.10989T>G (p.Thr3663=) c.10485T>G (p.Thr3495=) c.10416T>G (p.Thr3472=) c.10157-9779T>G (n.10157-9779T>G) c.5202T>G (p.Thr1734=) n.535+6626A>C n.403+6626A>C c.11052T>G (p.Thr3684=) c.10932T>G (p.Thr3644=) c.10863T>G (p.Thr3621=) c.9267T>G (p.Thr3089=) n.11403T>G n.3145+6626A>C n.3013+6626A>C | |
6 | g.51658999A>G | CA450612631 | PKHD1 | c.11127T>C (p.Thr3709=) c.10998T>C (p.Thr3666=) c.10989T>C (p.Thr3663=) c.10485T>C (p.Thr3495=) c.10416T>C (p.Thr3472=) c.10157-9779T>C (n.10157-9779T>C) c.5202T>C (p.Thr1734=) n.535+6626A>G n.403+6626A>G c.11052T>C (p.Thr3684=) c.10932T>C (p.Thr3644=) c.10863T>C (p.Thr3621=) c.9267T>C (p.Thr3089=) n.11403T>C n.3145+6626A>G n.3013+6626A>G | |
6 | g.51658999A>T | CA450612632 | PKHD1 | c.11127T>A (p.Thr3709=) c.10998T>A (p.Thr3666=) c.10989T>A (p.Thr3663=) c.10485T>A (p.Thr3495=) c.10416T>A (p.Thr3472=) c.10157-9779T>A (n.10157-9779T>A) c.5202T>A (p.Thr1734=) n.535+6626A>T n.403+6626A>T c.11052T>A (p.Thr3684=) c.10932T>A (p.Thr3644=) c.10863T>A (p.Thr3621=) c.9267T>A (p.Thr3089=) n.11403T>A n.3145+6626A>T n.3013+6626A>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51659000G>A | CA364429920 | PKHD1 | c.11126C>T (p.Thr3709Ile) c.10997C>T (p.Thr3666Ile) c.10988C>T (p.Thr3663Ile) c.10484C>T (p.Thr3495Ile) c.10415C>T (p.Thr3472Ile) c.10157-9780C>T (n.10157-9780C>T) c.5201C>T (p.Thr1734Ile) n.535+6627G>A n.403+6627G>A c.11051C>T (p.Thr3684Ile) c.10931C>T (p.Thr3644Ile) c.10862C>T (p.Thr3621Ile) c.9266C>T (p.Thr3089Ile) n.11402C>T n.3145+6627G>A n.3013+6627G>A | |
6 | g.51659000G>C | CA364429922 | PKHD1 | c.11126C>G (p.Thr3709Ser) c.10997C>G (p.Thr3666Ser) c.10988C>G (p.Thr3663Ser) c.10484C>G (p.Thr3495Ser) c.10415C>G (p.Thr3472Ser) c.10157-9780C>G (n.10157-9780C>G) c.5201C>G (p.Thr1734Ser) n.535+6627G>C n.403+6627G>C c.11051C>G (p.Thr3684Ser) c.10931C>G (p.Thr3644Ser) c.10862C>G (p.Thr3621Ser) c.9266C>G (p.Thr3089Ser) n.11402C>G n.3145+6627G>C n.3013+6627G>C | |
6 | g.51659000G>T | CA364429923 | PKHD1 | c.11126C>A (p.Thr3709Asn) c.10997C>A (p.Thr3666Asn) c.10988C>A (p.Thr3663Asn) c.10484C>A (p.Thr3495Asn) c.10415C>A (p.Thr3472Asn) c.10157-9780C>A (n.10157-9780C>A) c.5201C>A (p.Thr1734Asn) n.535+6627G>T n.403+6627G>T c.11051C>A (p.Thr3684Asn) c.10931C>A (p.Thr3644Asn) c.10862C>A (p.Thr3621Asn) c.9266C>A (p.Thr3089Asn) n.11402C>A n.3145+6627G>T n.3013+6627G>T | |
6 | g.51659001T>A | CA364429926 | PKHD1 | c.11125A>T (p.Thr3709Ser) c.10996A>T (p.Thr3666Ser) c.10987A>T (p.Thr3663Ser) c.10483A>T (p.Thr3495Ser) c.10414A>T (p.Thr3472Ser) c.10157-9781A>T (n.10157-9781A>T) c.5200A>T (p.Thr1734Ser) n.535+6628T>A n.403+6628T>A c.11050A>T (p.Thr3684Ser) c.10930A>T (p.Thr3644Ser) c.10861A>T (p.Thr3621Ser) c.9265A>T (p.Thr3089Ser) n.11401A>T n.3145+6628T>A n.3013+6628T>A | |
6 | g.51659001T>C | CA364429928 | PKHD1 | c.11125A>G (p.Thr3709Ala) c.10996A>G (p.Thr3666Ala) c.10987A>G (p.Thr3663Ala) c.10483A>G (p.Thr3495Ala) c.10414A>G (p.Thr3472Ala) c.10157-9781A>G (n.10157-9781A>G) c.5200A>G (p.Thr1734Ala) n.535+6628T>C n.403+6628T>C c.11050A>G (p.Thr3684Ala) c.10930A>G (p.Thr3644Ala) c.10861A>G (p.Thr3621Ala) c.9265A>G (p.Thr3089Ala) n.11401A>G n.3145+6628T>C n.3013+6628T>C | |
6 | g.51659001T>G | CA364429929 | PKHD1 | c.11125A>C (p.Thr3709Pro) c.10996A>C (p.Thr3666Pro) c.10987A>C (p.Thr3663Pro) c.10483A>C (p.Thr3495Pro) c.10414A>C (p.Thr3472Pro) c.10157-9781A>C (n.10157-9781A>C) c.5200A>C (p.Thr1734Pro) n.535+6628T>G n.403+6628T>G c.11050A>C (p.Thr3684Pro) c.10930A>C (p.Thr3644Pro) c.10861A>C (p.Thr3621Pro) c.9265A>C (p.Thr3089Pro) n.11401A>C n.3145+6628T>G n.3013+6628T>G | |
6 | g.51659002C>A | CA364429930 | PKHD1 | c.11124G>T (p.Met3708Ile) c.10995G>T (p.Met3665Ile) c.10986G>T (p.Met3662Ile) c.10482G>T (p.Met3494Ile) c.10413G>T (p.Met3471Ile) c.10157-9782G>T (n.10157-9782G>T) c.5199G>T (p.Met1733Ile) n.535+6629C>A n.403+6629C>A c.11049G>T (p.Met3683Ile) c.10929G>T (p.Met3643Ile) c.10860G>T (p.Met3620Ile) c.9264G>T (p.Met3088Ile) n.11400G>T n.3145+6629C>A n.3013+6629C>A | gnomAD v4 |
6 | g.51659002C>G | CA364429933 | PKHD1 | c.11124G>C (p.Met3708Ile) c.10995G>C (p.Met3665Ile) c.10986G>C (p.Met3662Ile) c.10482G>C (p.Met3494Ile) c.10413G>C (p.Met3471Ile) c.10157-9782G>C (n.10157-9782G>C) c.5199G>C (p.Met1733Ile) n.535+6629C>G n.403+6629C>G c.11049G>C (p.Met3683Ile) c.10929G>C (p.Met3643Ile) c.10860G>C (p.Met3620Ile) c.9264G>C (p.Met3088Ile) n.11400G>C n.3145+6629C>G n.3013+6629C>G | |
6 | g.51659002C>T | CA364429931 | PKHD1 | c.11124G>A (p.Met3708Ile) c.10995G>A (p.Met3665Ile) c.10986G>A (p.Met3662Ile) c.10482G>A (p.Met3494Ile) c.10413G>A (p.Met3471Ile) c.10157-9782G>A (n.10157-9782G>A) c.5199G>A (p.Met1733Ile) n.535+6629C>T n.403+6629C>T c.11049G>A (p.Met3683Ile) c.10929G>A (p.Met3643Ile) c.10860G>A (p.Met3620Ile) c.9264G>A (p.Met3088Ile) n.11400G>A n.3145+6629C>T n.3013+6629C>T | |
6 | g.51659003A= | CA1628438248 | PKHD1 | c.11123T= (p.Met3708=) c.10994T= (p.Met3665=) c.10985T= (p.Met3662=) c.10481T= (p.Met3494=) c.10412T= (p.Met3471=) c.10157-9783T= (n.10157-9783T=) c.5198T= (p.Met1733=) n.535+6630A= n.403+6630A= c.11048T= (p.Met3683=) c.10928T= (p.Met3643=) c.10859T= (p.Met3620=) c.9263T= (p.Met3088=) n.11399T= n.3145+6630A= n.3013+6630A= | |
6 | g.51659003A>C | CA364429934 | PKHD1 | c.11123T>G (p.Met3708Arg) c.10994T>G (p.Met3665Arg) c.10985T>G (p.Met3662Arg) c.10481T>G (p.Met3494Arg) c.10412T>G (p.Met3471Arg) c.10157-9783T>G (n.10157-9783T>G) c.5198T>G (p.Met1733Arg) n.535+6630A>C n.403+6630A>C c.11048T>G (p.Met3683Arg) c.10928T>G (p.Met3643Arg) c.10859T>G (p.Met3620Arg) c.9263T>G (p.Met3088Arg) n.11399T>G n.3145+6630A>C n.3013+6630A>C | |
6 | g.51659003A>G | CA3850957 | PKHD1 | c.11123T>C (p.Met3708Thr) c.10994T>C (p.Met3665Thr) c.10985T>C (p.Met3662Thr) c.10481T>C (p.Met3494Thr) c.10412T>C (p.Met3471Thr) c.10157-9783T>C (n.10157-9783T>C) c.5198T>C (p.Met1733Thr) n.535+6630A>G n.403+6630A>G c.11048T>C (p.Met3683Thr) c.10928T>C (p.Met3643Thr) c.10859T>C (p.Met3620Thr) c.9263T>C (p.Met3088Thr) n.11399T>C n.3145+6630A>G n.3013+6630A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51659003A>T | CA364429936 | PKHD1 | c.11123T>A (p.Met3708Lys) c.10994T>A (p.Met3665Lys) c.10985T>A (p.Met3662Lys) c.10481T>A (p.Met3494Lys) c.10412T>A (p.Met3471Lys) c.10157-9783T>A (n.10157-9783T>A) c.5198T>A (p.Met1733Lys) n.535+6630A>T n.403+6630A>T c.11048T>A (p.Met3683Lys) c.10928T>A (p.Met3643Lys) c.10859T>A (p.Met3620Lys) c.9263T>A (p.Met3088Lys) n.11399T>A n.3145+6630A>T n.3013+6630A>T | |
6 | g.51659004T>A | CA364429939 | PKHD1 | c.11122A>T (p.Met3708Leu) c.10993A>T (p.Met3665Leu) c.10984A>T (p.Met3662Leu) c.10480A>T (p.Met3494Leu) c.10411A>T (p.Met3471Leu) c.10157-9784A>T (n.10157-9784A>T) c.5197A>T (p.Met1733Leu) n.535+6631T>A n.403+6631T>A c.11047A>T (p.Met3683Leu) c.10927A>T (p.Met3643Leu) c.10858A>T (p.Met3620Leu) c.9262A>T (p.Met3088Leu) n.11398A>T n.3145+6631T>A n.3013+6631T>A | |
6 | g.51659004T>C | CA364429941 | PKHD1 | c.11122A>G (p.Met3708Val) c.10993A>G (p.Met3665Val) c.10984A>G (p.Met3662Val) c.10480A>G (p.Met3494Val) c.10411A>G (p.Met3471Val) c.10157-9784A>G (n.10157-9784A>G) c.5197A>G (p.Met1733Val) n.535+6631T>C n.403+6631T>C c.11047A>G (p.Met3683Val) c.10927A>G (p.Met3643Val) c.10858A>G (p.Met3620Val) c.9262A>G (p.Met3088Val) n.11398A>G n.3145+6631T>C n.3013+6631T>C | gnomAD v4 |
6 | g.51659004T>G | CA364429943 | PKHD1 | c.11122A>C (p.Met3708Leu) c.10993A>C (p.Met3665Leu) c.10984A>C (p.Met3662Leu) c.10480A>C (p.Met3494Leu) c.10411A>C (p.Met3471Leu) c.10157-9784A>C (n.10157-9784A>C) c.5197A>C (p.Met1733Leu) n.535+6631T>G n.403+6631T>G c.11047A>C (p.Met3683Leu) c.10927A>C (p.Met3643Leu) c.10858A>C (p.Met3620Leu) c.9262A>C (p.Met3088Leu) n.11398A>C n.3145+6631T>G n.3013+6631T>G | COSMIC |
6 | g.51659005A>C | CA364429944 | PKHD1 | c.11121T>G (p.Asn3707Lys) c.10992T>G (p.Asn3664Lys) c.10983T>G (p.Asn3661Lys) c.10479T>G (p.Asn3493Lys) c.10410T>G (p.Asn3470Lys) c.10157-9785T>G (n.10157-9785T>G) c.5196T>G (p.Asn1732Lys) n.535+6632A>C n.403+6632A>C c.11046T>G (p.Asn3682Lys) c.10926T>G (p.Asn3642Lys) c.10857T>G (p.Asn3619Lys) c.9261T>G (p.Asn3087Lys) n.11397T>G n.3145+6632A>C n.3013+6632A>C | |
6 | g.51659005A>G | CA450612633 | PKHD1 | c.11121T>C (p.Asn3707=) c.10992T>C (p.Asn3664=) c.10983T>C (p.Asn3661=) c.10479T>C (p.Asn3493=) c.10410T>C (p.Asn3470=) c.10157-9785T>C (n.10157-9785T>C) c.5196T>C (p.Asn1732=) n.535+6632A>G n.403+6632A>G c.11046T>C (p.Asn3682=) c.10926T>C (p.Asn3642=) c.10857T>C (p.Asn3619=) c.9261T>C (p.Asn3087=) n.11397T>C n.3145+6632A>G n.3013+6632A>G | |
6 | g.51659005A>T | CA364429946 | PKHD1 | c.11121T>A (p.Asn3707Lys) c.10992T>A (p.Asn3664Lys) c.10983T>A (p.Asn3661Lys) c.10479T>A (p.Asn3493Lys) c.10410T>A (p.Asn3470Lys) c.10157-9785T>A (n.10157-9785T>A) c.5196T>A (p.Asn1732Lys) n.535+6632A>T n.403+6632A>T c.11046T>A (p.Asn3682Lys) c.10926T>A (p.Asn3642Lys) c.10857T>A (p.Asn3619Lys) c.9261T>A (p.Asn3087Lys) n.11397T>A n.3145+6632A>T n.3013+6632A>T | |
6 | g.51659006T>A | CA364429948 | PKHD1 | c.11120A>T (p.Asn3707Ile) c.10991A>T (p.Asn3664Ile) c.10982A>T (p.Asn3661Ile) c.10478A>T (p.Asn3493Ile) c.10409A>T (p.Asn3470Ile) c.10157-9786A>T (n.10157-9786A>T) c.5195A>T (p.Asn1732Ile) n.535+6633T>A n.403+6633T>A c.11045A>T (p.Asn3682Ile) c.10925A>T (p.Asn3642Ile) c.10856A>T (p.Asn3619Ile) c.9260A>T (p.Asn3087Ile) n.11396A>T n.3145+6633T>A n.3013+6633T>A | |
6 | g.51659006T>C | CA364429950 | PKHD1 | c.11120A>G (p.Asn3707Ser) c.10991A>G (p.Asn3664Ser) c.10982A>G (p.Asn3661Ser) c.10478A>G (p.Asn3493Ser) c.10409A>G (p.Asn3470Ser) c.10157-9786A>G (n.10157-9786A>G) c.5195A>G (p.Asn1732Ser) n.535+6633T>C n.403+6633T>C c.11045A>G (p.Asn3682Ser) c.10925A>G (p.Asn3642Ser) c.10856A>G (p.Asn3619Ser) c.9260A>G (p.Asn3087Ser) n.11396A>G n.3145+6633T>C n.3013+6633T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51659006T>G | CA364429951 | PKHD1 | c.11120A>C (p.Asn3707Thr) c.10991A>C (p.Asn3664Thr) c.10982A>C (p.Asn3661Thr) c.10478A>C (p.Asn3493Thr) c.10409A>C (p.Asn3470Thr) c.10157-9786A>C (n.10157-9786A>C) c.5195A>C (p.Asn1732Thr) n.535+6633T>G n.403+6633T>G c.11045A>C (p.Asn3682Thr) c.10925A>C (p.Asn3642Thr) c.10856A>C (p.Asn3619Thr) c.9260A>C (p.Asn3087Thr) n.11396A>C n.3145+6633T>G n.3013+6633T>G | |
6 | g.51659006T= | CA1628438253 | PKHD1 | c.11120A= (p.Asn3707=) c.10991A= (p.Asn3664=) c.10982A= (p.Asn3661=) c.10478A= (p.Asn3493=) c.10409A= (p.Asn3470=) c.10157-9786A= (n.10157-9786A=) c.5195A= (p.Asn1732=) n.535+6633T= n.403+6633T= c.11045A= (p.Asn3682=) c.10925A= (p.Asn3642=) c.10856A= (p.Asn3619=) c.9260A= (p.Asn3087=) n.11396A= n.3145+6633T= n.3013+6633T= | |
6 | g.51659007T>A | CA364429953 | PKHD1 | c.11119A>T (p.Asn3707Tyr) c.10990A>T (p.Asn3664Tyr) c.10981A>T (p.Asn3661Tyr) c.10477A>T (p.Asn3493Tyr) c.10408A>T (p.Asn3470Tyr) c.10157-9787A>T (n.10157-9787A>T) c.5194A>T (p.Asn1732Tyr) n.535+6634T>A n.403+6634T>A c.11044A>T (p.Asn3682Tyr) c.10924A>T (p.Asn3642Tyr) c.10855A>T (p.Asn3619Tyr) c.9259A>T (p.Asn3087Tyr) n.11395A>T n.3145+6634T>A n.3013+6634T>A | |
6 | g.51659007T>C | CA364429955 | PKHD1 | c.11119A>G (p.Asn3707Asp) c.10990A>G (p.Asn3664Asp) c.10981A>G (p.Asn3661Asp) c.10477A>G (p.Asn3493Asp) c.10408A>G (p.Asn3470Asp) c.10157-9787A>G (n.10157-9787A>G) c.5194A>G (p.Asn1732Asp) n.535+6634T>C n.403+6634T>C c.11044A>G (p.Asn3682Asp) c.10924A>G (p.Asn3642Asp) c.10855A>G (p.Asn3619Asp) c.9259A>G (p.Asn3087Asp) n.11395A>G n.3145+6634T>C n.3013+6634T>C | |
6 | g.51659007T>G | CA364429957 | PKHD1 | c.11119A>C (p.Asn3707His) c.10990A>C (p.Asn3664His) c.10981A>C (p.Asn3661His) c.10477A>C (p.Asn3493His) c.10408A>C (p.Asn3470His) c.10157-9787A>C (n.10157-9787A>C) c.5194A>C (p.Asn1732His) n.535+6634T>G n.403+6634T>G c.11044A>C (p.Asn3682His) c.10924A>C (p.Asn3642His) c.10855A>C (p.Asn3619His) c.9259A>C (p.Asn3087His) n.11395A>C n.3145+6634T>G n.3013+6634T>G | gnomAD v4 |
6 | g.51659008C>A | CA450612634 | PKHD1 | c.11118G>T (p.Leu3706=) c.10989G>T (p.Leu3663=) c.10980G>T (p.Leu3660=) c.10476G>T (p.Leu3492=) c.10407G>T (p.Leu3469=) c.10157-9788G>T (n.10157-9788G>T) c.5193G>T (p.Leu1731=) n.535+6635C>A n.403+6635C>A c.11043G>T (p.Leu3681=) c.10923G>T (p.Leu3641=) c.10854G>T (p.Leu3618=) c.9258G>T (p.Leu3086=) n.11394G>T n.3145+6635C>A n.3013+6635C>A | |
6 | g.51659008C>G | CA450612635 | PKHD1 | c.11118G>C (p.Leu3706=) c.10989G>C (p.Leu3663=) c.10980G>C (p.Leu3660=) c.10476G>C (p.Leu3492=) c.10407G>C (p.Leu3469=) c.10157-9788G>C (n.10157-9788G>C) c.5193G>C (p.Leu1731=) n.535+6635C>G n.403+6635C>G c.11043G>C (p.Leu3681=) c.10923G>C (p.Leu3641=) c.10854G>C (p.Leu3618=) c.9258G>C (p.Leu3086=) n.11394G>C n.3145+6635C>G n.3013+6635C>G | |
6 | g.51659008C>T | CA450612636 | PKHD1 | c.11118G>A (p.Leu3706=) c.10989G>A (p.Leu3663=) c.10980G>A (p.Leu3660=) c.10476G>A (p.Leu3492=) c.10407G>A (p.Leu3469=) c.10157-9788G>A (n.10157-9788G>A) c.5193G>A (p.Leu1731=) n.535+6635C>T n.403+6635C>T c.11043G>A (p.Leu3681=) c.10923G>A (p.Leu3641=) c.10854G>A (p.Leu3618=) c.9258G>A (p.Leu3086=) n.11394G>A n.3145+6635C>T n.3013+6635C>T | |
6 | g.51659009A>C | CA364429963 | PKHD1 | c.11117T>G (p.Leu3706Arg) c.10988T>G (p.Leu3663Arg) c.10979T>G (p.Leu3660Arg) c.10475T>G (p.Leu3492Arg) c.10406T>G (p.Leu3469Arg) c.10157-9789T>G (n.10157-9789T>G) c.5192T>G (p.Leu1731Arg) n.535+6636A>C n.403+6636A>C c.11042T>G (p.Leu3681Arg) c.10922T>G (p.Leu3641Arg) c.10853T>G (p.Leu3618Arg) c.9257T>G (p.Leu3086Arg) n.11393T>G n.3145+6636A>C n.3013+6636A>C | |
6 | g.51659009A>G | CA364429958 | PKHD1 | c.11117T>C (p.Leu3706Pro) c.10988T>C (p.Leu3663Pro) c.10979T>C (p.Leu3660Pro) c.10475T>C (p.Leu3492Pro) c.10406T>C (p.Leu3469Pro) c.10157-9789T>C (n.10157-9789T>C) c.5192T>C (p.Leu1731Pro) n.535+6636A>G n.403+6636A>G c.11042T>C (p.Leu3681Pro) c.10922T>C (p.Leu3641Pro) c.10853T>C (p.Leu3618Pro) c.9257T>C (p.Leu3086Pro) n.11393T>C n.3145+6636A>G n.3013+6636A>G | |
6 | g.51659009A>T | CA364429960 | PKHD1 | c.11117T>A (p.Leu3706Gln) c.10988T>A (p.Leu3663Gln) c.10979T>A (p.Leu3660Gln) c.10475T>A (p.Leu3492Gln) c.10406T>A (p.Leu3469Gln) c.10157-9789T>A (n.10157-9789T>A) c.5192T>A (p.Leu1731Gln) n.535+6636A>T n.403+6636A>T c.11042T>A (p.Leu3681Gln) c.10922T>A (p.Leu3641Gln) c.10853T>A (p.Leu3618Gln) c.9257T>A (p.Leu3086Gln) n.11393T>A n.3145+6636A>T n.3013+6636A>T | |
6 | g.51659010G>A | CA450612637 | PKHD1 | c.11116C>T (p.Leu3706=) c.10987C>T (p.Leu3663=) c.10978C>T (p.Leu3660=) c.10474C>T (p.Leu3492=) c.10405C>T (p.Leu3469=) c.10157-9790C>T (n.10157-9790C>T) c.5191C>T (p.Leu1731=) n.535+6637G>A n.403+6637G>A c.11041C>T (p.Leu3681=) c.10921C>T (p.Leu3641=) c.10852C>T (p.Leu3618=) c.9256C>T (p.Leu3086=) n.11392C>T n.3145+6637G>A n.3013+6637G>A | |
6 | g.51659010G>C | CA364429965 | PKHD1 | c.11116C>G (p.Leu3706Val) c.10987C>G (p.Leu3663Val) c.10978C>G (p.Leu3660Val) c.10474C>G (p.Leu3492Val) c.10405C>G (p.Leu3469Val) c.10157-9790C>G (n.10157-9790C>G) c.5191C>G (p.Leu1731Val) n.535+6637G>C n.403+6637G>C c.11041C>G (p.Leu3681Val) c.10921C>G (p.Leu3641Val) c.10852C>G (p.Leu3618Val) c.9256C>G (p.Leu3086Val) n.11392C>G n.3145+6637G>C n.3013+6637G>C | |
6 | g.51659010G>T | CA364429966 | PKHD1 | c.11116C>A (p.Leu3706Met) c.10987C>A (p.Leu3663Met) c.10978C>A (p.Leu3660Met) c.10474C>A (p.Leu3492Met) c.10405C>A (p.Leu3469Met) c.10157-9790C>A (n.10157-9790C>A) c.5191C>A (p.Leu1731Met) n.535+6637G>T n.403+6637G>T c.11041C>A (p.Leu3681Met) c.10921C>A (p.Leu3641Met) c.10852C>A (p.Leu3618Met) c.9256C>A (p.Leu3086Met) n.11392C>A n.3145+6637G>T n.3013+6637G>T | |
6 | g.51659011A= | CA1628438257 | PKHD1 | c.11115T= (p.Val3705=) c.10986T= (p.Val3662=) c.10977T= (p.Val3659=) c.10473T= (p.Val3491=) c.10404T= (p.Val3468=) c.10157-9791T= (n.10157-9791T=) c.5190T= (p.Val1730=) n.535+6638A= n.403+6638A= c.11040T= (p.Val3680=) c.10920T= (p.Val3640=) c.10851T= (p.Val3617=) c.9255T= (p.Val3085=) n.11391T= n.3145+6638A= n.3013+6638A= | |
6 | g.51659011A>C | CA3850958 | PKHD1 | c.11115T>G (p.Val3705=) c.10986T>G (p.Val3662=) c.10977T>G (p.Val3659=) c.10473T>G (p.Val3491=) c.10404T>G (p.Val3468=) c.10157-9791T>G (n.10157-9791T>G) c.5190T>G (p.Val1730=) n.535+6638A>C n.403+6638A>C c.11040T>G (p.Val3680=) c.10920T>G (p.Val3640=) c.10851T>G (p.Val3617=) c.9255T>G (p.Val3085=) n.11391T>G n.3145+6638A>C n.3013+6638A>C | dbSNP ExAC |
6 | g.51659011A>G | CA450612638 | PKHD1 | c.11115T>C (p.Val3705=) c.10986T>C (p.Val3662=) c.10977T>C (p.Val3659=) c.10473T>C (p.Val3491=) c.10404T>C (p.Val3468=) c.10157-9791T>C (n.10157-9791T>C) c.5190T>C (p.Val1730=) n.535+6638A>G n.403+6638A>G c.11040T>C (p.Val3680=) c.10920T>C (p.Val3640=) c.10851T>C (p.Val3617=) c.9255T>C (p.Val3085=) n.11391T>C n.3145+6638A>G n.3013+6638A>G | dbSNP |
6 | g.51659011A>T | CA450612639 | PKHD1 | c.11115T>A (p.Val3705=) c.10986T>A (p.Val3662=) c.10977T>A (p.Val3659=) c.10473T>A (p.Val3491=) c.10404T>A (p.Val3468=) c.10157-9791T>A (n.10157-9791T>A) c.5190T>A (p.Val1730=) n.535+6638A>T n.403+6638A>T c.11040T>A (p.Val3680=) c.10920T>A (p.Val3640=) c.10851T>A (p.Val3617=) c.9255T>A (p.Val3085=) n.11391T>A n.3145+6638A>T n.3013+6638A>T | |
6 | g.51659012A>C | CA364429970 | PKHD1 | c.11114T>G (p.Val3705Gly) c.10985T>G (p.Val3662Gly) c.10976T>G (p.Val3659Gly) c.10472T>G (p.Val3491Gly) c.10403T>G (p.Val3468Gly) c.10157-9792T>G (n.10157-9792T>G) c.5189T>G (p.Val1730Gly) n.535+6639A>C n.403+6639A>C c.11039T>G (p.Val3680Gly) c.10919T>G (p.Val3640Gly) c.10850T>G (p.Val3617Gly) c.9254T>G (p.Val3085Gly) n.11390T>G n.3145+6639A>C n.3013+6639A>C | |
6 | g.51659012A>G | CA364429972 | PKHD1 | c.11114T>C (p.Val3705Ala) c.10985T>C (p.Val3662Ala) c.10976T>C (p.Val3659Ala) c.10472T>C (p.Val3491Ala) c.10403T>C (p.Val3468Ala) c.10157-9792T>C (n.10157-9792T>C) c.5189T>C (p.Val1730Ala) n.535+6639A>G n.403+6639A>G c.11039T>C (p.Val3680Ala) c.10919T>C (p.Val3640Ala) c.10850T>C (p.Val3617Ala) c.9254T>C (p.Val3085Ala) n.11390T>C n.3145+6639A>G n.3013+6639A>G | dbSNP |
6 | g.51659012A>T | CA364429973 | PKHD1 | c.11114T>A (p.Val3705Asp) c.10985T>A (p.Val3662Asp) c.10976T>A (p.Val3659Asp) c.10472T>A (p.Val3491Asp) c.10403T>A (p.Val3468Asp) c.10157-9792T>A (n.10157-9792T>A) c.5189T>A (p.Val1730Asp) n.535+6639A>T n.403+6639A>T c.11039T>A (p.Val3680Asp) c.10919T>A (p.Val3640Asp) c.10850T>A (p.Val3617Asp) c.9254T>A (p.Val3085Asp) n.11390T>A n.3145+6639A>T n.3013+6639A>T | |
6 | g.51659013C>A | CA364429974 | PKHD1 | c.11113G>T (p.Val3705Phe) c.10984G>T (p.Val3662Phe) c.10975G>T (p.Val3659Phe) c.10471G>T (p.Val3491Phe) c.10402G>T (p.Val3468Phe) c.10157-9793G>T (n.10157-9793G>T) c.5188G>T (p.Val1730Phe) n.535+6640C>A n.403+6640C>A c.11038G>T (p.Val3680Phe) c.10918G>T (p.Val3640Phe) c.10849G>T (p.Val3617Phe) c.9253G>T (p.Val3085Phe) n.11389G>T n.3145+6640C>A n.3013+6640C>A | |
6 | g.51659013C= | CA1628438264 | PKHD1 | c.11113G= (p.Val3705=) c.10984G= (p.Val3662=) c.10975G= (p.Val3659=) c.10471G= (p.Val3491=) c.10402G= (p.Val3468=) c.10157-9793G= (n.10157-9793G=) c.5188G= (p.Val1730=) n.535+6640C= n.403+6640C= c.11038G= (p.Val3680=) c.10918G= (p.Val3640=) c.10849G= (p.Val3617=) c.9253G= (p.Val3085=) n.11389G= n.3145+6640C= n.3013+6640C= | |
6 | g.51659013C>G | CA364429976 | PKHD1 | c.11113G>C (p.Val3705Leu) c.10984G>C (p.Val3662Leu) c.10975G>C (p.Val3659Leu) c.10471G>C (p.Val3491Leu) c.10402G>C (p.Val3468Leu) c.10157-9793G>C (n.10157-9793G>C) c.5188G>C (p.Val1730Leu) n.535+6640C>G n.403+6640C>G c.11038G>C (p.Val3680Leu) c.10918G>C (p.Val3640Leu) c.10849G>C (p.Val3617Leu) c.9253G>C (p.Val3085Leu) n.11389G>C n.3145+6640C>G n.3013+6640C>G | |
6 | g.51659013C>T | CA138896952 | PKHD1 | c.11113G>A (p.Val3705Ile) c.10984G>A (p.Val3662Ile) c.10975G>A (p.Val3659Ile) c.10471G>A (p.Val3491Ile) c.10402G>A (p.Val3468Ile) c.10157-9793G>A (n.10157-9793G>A) c.5188G>A (p.Val1730Ile) n.535+6640C>T n.403+6640C>T c.11038G>A (p.Val3680Ile) c.10918G>A (p.Val3640Ile) c.10849G>A (p.Val3617Ile) c.9253G>A (p.Val3085Ile) n.11389G>A n.3145+6640C>T n.3013+6640C>T | ClinVar dbSNP gnomAD v4 |
6 | g.51659014A= | CA1628438268 | PKHD1 | c.11112T= (p.Asn3704=) c.10983T= (p.Asn3661=) c.10974T= (p.Asn3658=) c.10470T= (p.Asn3490=) c.10401T= (p.Asn3467=) c.10157-9794T= (n.10157-9794T=) c.5187T= (p.Asn1729=) n.535+6641A= n.403+6641A= c.11037T= (p.Asn3679=) c.10917T= (p.Asn3639=) c.10848T= (p.Asn3616=) c.9252T= (p.Asn3084=) n.11388T= n.3145+6641A= n.3013+6641A= | |
6 | g.51659014A>C | CA3850959 | PKHD1 | c.11112T>G (p.Asn3704Lys) c.10983T>G (p.Asn3661Lys) c.10974T>G (p.Asn3658Lys) c.10470T>G (p.Asn3490Lys) c.10401T>G (p.Asn3467Lys) c.10157-9794T>G (n.10157-9794T>G) c.5187T>G (p.Asn1729Lys) n.535+6641A>C n.403+6641A>C c.11037T>G (p.Asn3679Lys) c.10917T>G (p.Asn3639Lys) c.10848T>G (p.Asn3616Lys) c.9252T>G (p.Asn3084Lys) n.11388T>G n.3145+6641A>C n.3013+6641A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51659014A>G | CA450612640 | PKHD1 | c.11112T>C (p.Asn3704=) c.10983T>C (p.Asn3661=) c.10974T>C (p.Asn3658=) c.10470T>C (p.Asn3490=) c.10401T>C (p.Asn3467=) c.10157-9794T>C (n.10157-9794T>C) c.5187T>C (p.Asn1729=) n.535+6641A>G n.403+6641A>G c.11037T>C (p.Asn3679=) c.10917T>C (p.Asn3639=) c.10848T>C (p.Asn3616=) c.9252T>C (p.Asn3084=) n.11388T>C n.3145+6641A>G n.3013+6641A>G | |
6 | g.51659014A>T | CA364429980 | PKHD1 | c.11112T>A (p.Asn3704Lys) c.10983T>A (p.Asn3661Lys) c.10974T>A (p.Asn3658Lys) c.10470T>A (p.Asn3490Lys) c.10401T>A (p.Asn3467Lys) c.10157-9794T>A (n.10157-9794T>A) c.5187T>A (p.Asn1729Lys) n.535+6641A>T n.403+6641A>T c.11037T>A (p.Asn3679Lys) c.10917T>A (p.Asn3639Lys) c.10848T>A (p.Asn3616Lys) c.9252T>A (p.Asn3084Lys) n.11388T>A n.3145+6641A>T n.3013+6641A>T | |
6 | g.51659015T>A | CA364429984 | PKHD1 | c.11111A>T (p.Asn3704Ile) c.10982A>T (p.Asn3661Ile) c.10973A>T (p.Asn3658Ile) c.10469A>T (p.Asn3490Ile) c.10400A>T (p.Asn3467Ile) c.10157-9795A>T (n.10157-9795A>T) c.5186A>T (p.Asn1729Ile) n.535+6642T>A n.403+6642T>A c.11036A>T (p.Asn3679Ile) c.10916A>T (p.Asn3639Ile) c.10847A>T (p.Asn3616Ile) c.9251A>T (p.Asn3084Ile) n.11387A>T n.3145+6642T>A n.3013+6642T>A | |
6 | g.51659015T>C | CA364429986 | PKHD1 | c.11111A>G (p.Asn3704Ser) c.10982A>G (p.Asn3661Ser) c.10973A>G (p.Asn3658Ser) c.10469A>G (p.Asn3490Ser) c.10400A>G (p.Asn3467Ser) c.10157-9795A>G (n.10157-9795A>G) c.5186A>G (p.Asn1729Ser) n.535+6642T>C n.403+6642T>C c.11036A>G (p.Asn3679Ser) c.10916A>G (p.Asn3639Ser) c.10847A>G (p.Asn3616Ser) c.9251A>G (p.Asn3084Ser) n.11387A>G n.3145+6642T>C n.3013+6642T>C | dbSNP |
6 | g.51659015T>G | CA364429982 | PKHD1 | c.11111A>C (p.Asn3704Thr) c.10982A>C (p.Asn3661Thr) c.10973A>C (p.Asn3658Thr) c.10469A>C (p.Asn3490Thr) c.10400A>C (p.Asn3467Thr) c.10157-9795A>C (n.10157-9795A>C) c.5186A>C (p.Asn1729Thr) n.535+6642T>G n.403+6642T>G c.11036A>C (p.Asn3679Thr) c.10916A>C (p.Asn3639Thr) c.10847A>C (p.Asn3616Thr) c.9251A>C (p.Asn3084Thr) n.11387A>C n.3145+6642T>G n.3013+6642T>G | |
6 | g.51659015T= | CA1628438271 | PKHD1 | c.11111A= (p.Asn3704=) c.10982A= (p.Asn3661=) c.10973A= (p.Asn3658=) c.10469A= (p.Asn3490=) c.10400A= (p.Asn3467=) c.10157-9795A= (n.10157-9795A=) c.5186A= (p.Asn1729=) n.535+6642T= n.403+6642T= c.11036A= (p.Asn3679=) c.10916A= (p.Asn3639=) c.10847A= (p.Asn3616=) c.9251A= (p.Asn3084=) n.11387A= n.3145+6642T= n.3013+6642T= | |
6 | g.51659016T>A | CA364429988 | PKHD1 | c.11110A>T (p.Asn3704Tyr) c.10981A>T (p.Asn3661Tyr) c.10972A>T (p.Asn3658Tyr) c.10468A>T (p.Asn3490Tyr) c.10399A>T (p.Asn3467Tyr) c.10157-9796A>T (n.10157-9796A>T) c.5185A>T (p.Asn1729Tyr) n.535+6643T>A n.403+6643T>A c.11035A>T (p.Asn3679Tyr) c.10915A>T (p.Asn3639Tyr) c.10846A>T (p.Asn3616Tyr) c.9250A>T (p.Asn3084Tyr) n.11386A>T n.3145+6643T>A n.3013+6643T>A | |
6 | g.51659016T>C | CA364429990 | PKHD1 | c.11110A>G (p.Asn3704Asp) c.10981A>G (p.Asn3661Asp) c.10972A>G (p.Asn3658Asp) c.10468A>G (p.Asn3490Asp) c.10399A>G (p.Asn3467Asp) c.10157-9796A>G (n.10157-9796A>G) c.5185A>G (p.Asn1729Asp) n.535+6643T>C n.403+6643T>C c.11035A>G (p.Asn3679Asp) c.10915A>G (p.Asn3639Asp) c.10846A>G (p.Asn3616Asp) c.9250A>G (p.Asn3084Asp) n.11386A>G n.3145+6643T>C n.3013+6643T>C | gnomAD v4 |
6 | g.51659016T>G | CA364429993 | PKHD1 | c.11110A>C (p.Asn3704His) c.10981A>C (p.Asn3661His) c.10972A>C (p.Asn3658His) c.10468A>C (p.Asn3490His) c.10399A>C (p.Asn3467His) c.10157-9796A>C (n.10157-9796A>C) c.5185A>C (p.Asn1729His) n.535+6643T>G n.403+6643T>G c.11035A>C (p.Asn3679His) c.10915A>C (p.Asn3639His) c.10846A>C (p.Asn3616His) c.9250A>C (p.Asn3084His) n.11386A>C n.3145+6643T>G n.3013+6643T>G | gnomAD v4 |
6 | g.51659019_51659020del | CA645554296 | PKHD1 | c.11109_11110del (p.Asn3704CysfsTer27) c.10980_10981del (p.Asn3661CysfsTer27) c.10971_10972del (p.Asn3658CysfsTer27) c.10467_10468del (p.Asn3490CysfsTer27) c.10398_10399del (p.Asn3467CysfsTer27) c.10157-9797_10157-9796del (n.10157-9797_10157-9796del) c.5184_5185del (p.Asn1729CysfsTer27) n.535+6646_535+6647del n.403+6646_403+6647del c.11034_11035del (p.Asn3679CysfsTer27) c.10914_10915del (p.Asn3639CysfsTer27) c.10845_10846del (p.Asn3616CysfsTer27) c.9249_9250del (p.Asn3084CysfsTer27) n.11385_11386del n.3145+6646_3145+6647del n.3013+6646_3013+6647del | COSMIC |
6 | g.51659017C>A | CA364429997 | PKHD1 | c.11109G>T (p.Glu3703Asp) c.10980G>T (p.Glu3660Asp) c.10971G>T (p.Glu3657Asp) c.10467G>T (p.Glu3489Asp) c.10398G>T (p.Glu3466Asp) c.10157-9797G>T (n.10157-9797G>T) c.5184G>T (p.Glu1728Asp) n.535+6644C>A n.403+6644C>A c.11034G>T (p.Glu3678Asp) c.10914G>T (p.Glu3638Asp) c.10845G>T (p.Glu3615Asp) c.9249G>T (p.Glu3083Asp) n.11385G>T n.3145+6644C>A n.3013+6644C>A | |
6 | g.51659017C= | CA1628438273 | PKHD1 | c.11109G= (p.Glu3703=) c.10980G= (p.Glu3660=) c.10971G= (p.Glu3657=) c.10467G= (p.Glu3489=) c.10398G= (p.Glu3466=) c.10157-9797G= (n.10157-9797G=) c.5184G= (p.Glu1728=) n.535+6644C= n.403+6644C= c.11034G= (p.Glu3678=) c.10914G= (p.Glu3638=) c.10845G= (p.Glu3615=) c.9249G= (p.Glu3083=) n.11385G= n.3145+6644C= n.3013+6644C= | |
6 | g.51659017C>G | CA364429999 | PKHD1 | c.11109G>C (p.Glu3703Asp) c.10980G>C (p.Glu3660Asp) c.10971G>C (p.Glu3657Asp) c.10467G>C (p.Glu3489Asp) c.10398G>C (p.Glu3466Asp) c.10157-9797G>C (n.10157-9797G>C) c.5184G>C (p.Glu1728Asp) n.535+6644C>G n.403+6644C>G c.11034G>C (p.Glu3678Asp) c.10914G>C (p.Glu3638Asp) c.10845G>C (p.Glu3615Asp) c.9249G>C (p.Glu3083Asp) n.11385G>C n.3145+6644C>G n.3013+6644C>G | gnomAD v4 |
6 | g.51659017C>T | CA450612641 | PKHD1 | c.11109G>A (p.Glu3703=) c.10980G>A (p.Glu3660=) c.10971G>A (p.Glu3657=) c.10467G>A (p.Glu3489=) c.10398G>A (p.Glu3466=) c.10157-9797G>A (n.10157-9797G>A) c.5184G>A (p.Glu1728=) n.535+6644C>T n.403+6644C>T c.11034G>A (p.Glu3678=) c.10914G>A (p.Glu3638=) c.10845G>A (p.Glu3615=) c.9249G>A (p.Glu3083=) n.11385G>A n.3145+6644C>T n.3013+6644C>T | dbSNP gnomAD v4 |
6 | g.51659018T>A | CA364430008 | PKHD1 | c.11108A>T (p.Glu3703Val) c.10979A>T (p.Glu3660Val) c.10970A>T (p.Glu3657Val) c.10466A>T (p.Glu3489Val) c.10397A>T (p.Glu3466Val) c.10157-9798A>T (n.10157-9798A>T) c.5183A>T (p.Glu1728Val) n.535+6645T>A n.403+6645T>A c.11033A>T (p.Glu3678Val) c.10913A>T (p.Glu3638Val) c.10844A>T (p.Glu3615Val) c.9248A>T (p.Glu3083Val) n.11384A>T n.3145+6645T>A n.3013+6645T>A | |
6 | g.51659018T>C | CA364430005 | PKHD1 | c.11108A>G (p.Glu3703Gly) c.10979A>G (p.Glu3660Gly) c.10970A>G (p.Glu3657Gly) c.10466A>G (p.Glu3489Gly) c.10397A>G (p.Glu3466Gly) c.10157-9798A>G (n.10157-9798A>G) c.5183A>G (p.Glu1728Gly) n.535+6645T>C n.403+6645T>C c.11033A>G (p.Glu3678Gly) c.10913A>G (p.Glu3638Gly) c.10844A>G (p.Glu3615Gly) c.9248A>G (p.Glu3083Gly) n.11384A>G n.3145+6645T>C n.3013+6645T>C | |
6 | g.51659018T>G | CA364430002 | PKHD1 | c.11108A>C (p.Glu3703Ala) c.10979A>C (p.Glu3660Ala) c.10970A>C (p.Glu3657Ala) c.10466A>C (p.Glu3489Ala) c.10397A>C (p.Glu3466Ala) c.10157-9798A>C (n.10157-9798A>C) c.5183A>C (p.Glu1728Ala) n.535+6645T>G n.403+6645T>G c.11033A>C (p.Glu3678Ala) c.10913A>C (p.Glu3638Ala) c.10844A>C (p.Glu3615Ala) c.9248A>C (p.Glu3083Ala) n.11384A>C n.3145+6645T>G n.3013+6645T>G | gnomAD v4 |
6 | g.51659019C>A | CA364430010 | PKHD1 | c.11107G>T (p.Glu3703Ter) c.10978G>T (p.Glu3660Ter) c.10969G>T (p.Glu3657Ter) c.10465G>T (p.Glu3489Ter) c.10396G>T (p.Glu3466Ter) c.10157-9799G>T (n.10157-9799G>T) c.5182G>T (p.Glu1728Ter) n.535+6646C>A n.403+6646C>A c.11032G>T (p.Glu3678Ter) c.10912G>T (p.Glu3638Ter) c.10843G>T (p.Glu3615Ter) c.9247G>T (p.Glu3083Ter) n.11383G>T n.3145+6646C>A n.3013+6646C>A | |
6 | g.51659019C>G | CA364430011 | PKHD1 | c.11107G>C (p.Glu3703Gln) c.10978G>C (p.Glu3660Gln) c.10969G>C (p.Glu3657Gln) c.10465G>C (p.Glu3489Gln) c.10396G>C (p.Glu3466Gln) c.10157-9799G>C (n.10157-9799G>C) c.5182G>C (p.Glu1728Gln) n.535+6646C>G n.403+6646C>G c.11032G>C (p.Glu3678Gln) c.10912G>C (p.Glu3638Gln) c.10843G>C (p.Glu3615Gln) c.9247G>C (p.Glu3083Gln) n.11383G>C n.3145+6646C>G n.3013+6646C>G | gnomAD v4 |
6 | g.51659019C>T | CA364430012 | PKHD1 | c.11107G>A (p.Glu3703Lys) c.10978G>A (p.Glu3660Lys) c.10969G>A (p.Glu3657Lys) c.10465G>A (p.Glu3489Lys) c.10396G>A (p.Glu3466Lys) c.10157-9799G>A (n.10157-9799G>A) c.5182G>A (p.Glu1728Lys) n.535+6646C>T n.403+6646C>T c.11032G>A (p.Glu3678Lys) c.10912G>A (p.Glu3638Lys) c.10843G>A (p.Glu3615Lys) c.9247G>A (p.Glu3083Lys) n.11383G>A n.3145+6646C>T n.3013+6646C>T | |
6 | g.51659020T>A | CA450612642 | PKHD1 | c.11106A>T (p.Leu3702=) c.10977A>T (p.Leu3659=) c.10968A>T (p.Leu3656=) c.10464A>T (p.Leu3488=) c.10395A>T (p.Leu3465=) c.10157-9800A>T (n.10157-9800A>T) c.5181A>T (p.Leu1727=) n.535+6647T>A n.403+6647T>A c.11031A>T (p.Leu3677=) c.10911A>T (p.Leu3637=) c.10842A>T (p.Leu3614=) c.9246A>T (p.Leu3082=) n.11382A>T n.3145+6647T>A n.3013+6647T>A | |
6 | g.51659020T>C | CA450612643 | PKHD1 | c.11106A>G (p.Leu3702=) c.10977A>G (p.Leu3659=) c.10968A>G (p.Leu3656=) c.10464A>G (p.Leu3488=) c.10395A>G (p.Leu3465=) c.10157-9800A>G (n.10157-9800A>G) c.5181A>G (p.Leu1727=) n.535+6647T>C n.403+6647T>C c.11031A>G (p.Leu3677=) c.10911A>G (p.Leu3637=) c.10842A>G (p.Leu3614=) c.9246A>G (p.Leu3082=) n.11382A>G n.3145+6647T>C n.3013+6647T>C | |
6 | g.51659020T>G | CA450612644 | PKHD1 | c.11106A>C (p.Leu3702=) c.10977A>C (p.Leu3659=) c.10968A>C (p.Leu3656=) c.10464A>C (p.Leu3488=) c.10395A>C (p.Leu3465=) c.10157-9800A>C (n.10157-9800A>C) c.5181A>C (p.Leu1727=) n.535+6647T>G n.403+6647T>G c.11031A>C (p.Leu3677=) c.10911A>C (p.Leu3637=) c.10842A>C (p.Leu3614=) c.9246A>C (p.Leu3082=) n.11382A>C n.3145+6647T>G n.3013+6647T>G | gnomAD v4 |
6 | g.51659021A>C | CA364430013 | PKHD1 | c.11105T>G (p.Leu3702Arg) c.10976T>G (p.Leu3659Arg) c.10967T>G (p.Leu3656Arg) c.10463T>G (p.Leu3488Arg) c.10394T>G (p.Leu3465Arg) c.10157-9801T>G (n.10157-9801T>G) c.5180T>G (p.Leu1727Arg) n.535+6648A>C n.403+6648A>C c.11030T>G (p.Leu3677Arg) c.10910T>G (p.Leu3637Arg) c.10841T>G (p.Leu3614Arg) c.9245T>G (p.Leu3082Arg) n.11381T>G n.3145+6648A>C n.3013+6648A>C | |
6 | g.51659021A>G | CA364430014 | PKHD1 | c.11105T>C (p.Leu3702Pro) c.10976T>C (p.Leu3659Pro) c.10967T>C (p.Leu3656Pro) c.10463T>C (p.Leu3488Pro) c.10394T>C (p.Leu3465Pro) c.10157-9801T>C (n.10157-9801T>C) c.5180T>C (p.Leu1727Pro) n.535+6648A>G n.403+6648A>G c.11030T>C (p.Leu3677Pro) c.10910T>C (p.Leu3637Pro) c.10841T>C (p.Leu3614Pro) c.9245T>C (p.Leu3082Pro) n.11381T>C n.3145+6648A>G n.3013+6648A>G | |
6 | g.51659021A>T | CA364430016 | PKHD1 | c.11105T>A (p.Leu3702Gln) c.10976T>A (p.Leu3659Gln) c.10967T>A (p.Leu3656Gln) c.10463T>A (p.Leu3488Gln) c.10394T>A (p.Leu3465Gln) c.10157-9801T>A (n.10157-9801T>A) c.5180T>A (p.Leu1727Gln) n.535+6648A>T n.403+6648A>T c.11030T>A (p.Leu3677Gln) c.10910T>A (p.Leu3637Gln) c.10841T>A (p.Leu3614Gln) c.9245T>A (p.Leu3082Gln) n.11381T>A n.3145+6648A>T n.3013+6648A>T | |
6 | g.51659022G>A | CA3850960 | PKHD1 | c.11104C>T (p.Leu3702=) c.10975C>T (p.Leu3659=) c.10966C>T (p.Leu3656=) c.10462C>T (p.Leu3488=) c.10393C>T (p.Leu3465=) c.10157-9802C>T (n.10157-9802C>T) c.5179C>T (p.Leu1727=) n.535+6649G>A n.403+6649G>A c.11029C>T (p.Leu3677=) c.10909C>T (p.Leu3637=) c.10840C>T (p.Leu3614=) c.9244C>T (p.Leu3082=) n.11380C>T n.3145+6649G>A n.3013+6649G>A | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.51659022G>C | CA364430023 | PKHD1 | c.11104C>G (p.Leu3702Val) c.10975C>G (p.Leu3659Val) c.10966C>G (p.Leu3656Val) c.10462C>G (p.Leu3488Val) c.10393C>G (p.Leu3465Val) c.10157-9802C>G (n.10157-9802C>G) c.5179C>G (p.Leu1727Val) n.535+6649G>C n.403+6649G>C c.11029C>G (p.Leu3677Val) c.10909C>G (p.Leu3637Val) c.10840C>G (p.Leu3614Val) c.9244C>G (p.Leu3082Val) n.11380C>G n.3145+6649G>C n.3013+6649G>C | |
6 | g.51659022G= | CA1628438278 | PKHD1 | c.11104C= (p.Leu3702=) c.10975C= (p.Leu3659=) c.10966C= (p.Leu3656=) c.10462C= (p.Leu3488=) c.10393C= (p.Leu3465=) c.10157-9802C= (n.10157-9802C=) c.5179C= (p.Leu1727=) n.535+6649G= n.403+6649G= c.11029C= (p.Leu3677=) c.10909C= (p.Leu3637=) c.10840C= (p.Leu3614=) c.9244C= (p.Leu3082=) n.11380C= n.3145+6649G= n.3013+6649G= | |
6 | g.51659022G>T | CA364430020 | PKHD1 | c.11104C>A (p.Leu3702Ile) c.10975C>A (p.Leu3659Ile) c.10966C>A (p.Leu3656Ile) c.10462C>A (p.Leu3488Ile) c.10393C>A (p.Leu3465Ile) c.10157-9802C>A (n.10157-9802C>A) c.5179C>A (p.Leu1727Ile) n.535+6649G>T n.403+6649G>T c.11029C>A (p.Leu3677Ile) c.10909C>A (p.Leu3637Ile) c.10840C>A (p.Leu3614Ile) c.9244C>A (p.Leu3082Ile) n.11380C>A n.3145+6649G>T n.3013+6649G>T | |
6 | g.51659023T>A | CA450612645 | PKHD1 | c.11103A>T (p.Val3701=) c.10974A>T (p.Val3658=) c.10965A>T (p.Val3655=) c.10461A>T (p.Val3487=) c.10392A>T (p.Val3464=) c.10157-9803A>T (n.10157-9803A>T) c.5178A>T (p.Val1726=) n.535+6650T>A n.403+6650T>A c.11028A>T (p.Val3676=) c.10908A>T (p.Val3636=) c.10839A>T (p.Val3613=) c.9243A>T (p.Val3081=) n.11379A>T n.3145+6650T>A n.3013+6650T>A | |
6 | g.51659023T>C | CA450612646 | PKHD1 | c.11103A>G (p.Val3701=) c.10974A>G (p.Val3658=) c.10965A>G (p.Val3655=) c.10461A>G (p.Val3487=) c.10392A>G (p.Val3464=) c.10157-9803A>G (n.10157-9803A>G) c.5178A>G (p.Val1726=) n.535+6650T>C n.403+6650T>C c.11028A>G (p.Val3676=) c.10908A>G (p.Val3636=) c.10839A>G (p.Val3613=) c.9243A>G (p.Val3081=) n.11379A>G n.3145+6650T>C n.3013+6650T>C | dbSNP |
6 | g.51659023T>G | CA450612647 | PKHD1 | c.11103A>C (p.Val3701=) c.10974A>C (p.Val3658=) c.10965A>C (p.Val3655=) c.10461A>C (p.Val3487=) c.10392A>C (p.Val3464=) c.10157-9803A>C (n.10157-9803A>C) c.5178A>C (p.Val1726=) n.535+6650T>G n.403+6650T>G c.11028A>C (p.Val3676=) c.10908A>C (p.Val3636=) c.10839A>C (p.Val3613=) c.9243A>C (p.Val3081=) n.11379A>C n.3145+6650T>G n.3013+6650T>G | |
6 | g.51659023T= | CA1628438281 | PKHD1 | c.11103A= (p.Val3701=) c.10974A= (p.Val3658=) c.10965A= (p.Val3655=) c.10461A= (p.Val3487=) c.10392A= (p.Val3464=) c.10157-9803A= (n.10157-9803A=) c.5178A= (p.Val1726=) n.535+6650T= n.403+6650T= c.11028A= (p.Val3676=) c.10908A= (p.Val3636=) c.10839A= (p.Val3613=) c.9243A= (p.Val3081=) n.11379A= n.3145+6650T= n.3013+6650T= | |
6 | g.51659024A>C | CA364430027 | PKHD1 | c.11102T>G (p.Val3701Gly) c.10973T>G (p.Val3658Gly) c.10964T>G (p.Val3655Gly) c.10460T>G (p.Val3487Gly) c.10391T>G (p.Val3464Gly) c.10157-9804T>G (n.10157-9804T>G) c.5177T>G (p.Val1726Gly) n.535+6651A>C n.403+6651A>C c.11027T>G (p.Val3676Gly) c.10907T>G (p.Val3636Gly) c.10838T>G (p.Val3613Gly) c.9242T>G (p.Val3081Gly) n.11378T>G n.3145+6651A>C n.3013+6651A>C | |
6 | g.51659024A>G | CA364430030 | PKHD1 | c.11102T>C (p.Val3701Ala) c.10973T>C (p.Val3658Ala) c.10964T>C (p.Val3655Ala) c.10460T>C (p.Val3487Ala) c.10391T>C (p.Val3464Ala) c.10157-9804T>C (n.10157-9804T>C) c.5177T>C (p.Val1726Ala) n.535+6651A>G n.403+6651A>G c.11027T>C (p.Val3676Ala) c.10907T>C (p.Val3636Ala) c.10838T>C (p.Val3613Ala) c.9242T>C (p.Val3081Ala) n.11378T>C n.3145+6651A>G n.3013+6651A>G | |
6 | g.51659024A>T | CA364430034 | PKHD1 | c.11102T>A (p.Val3701Glu) c.10973T>A (p.Val3658Glu) c.10964T>A (p.Val3655Glu) c.10460T>A (p.Val3487Glu) c.10391T>A (p.Val3464Glu) c.10157-9804T>A (n.10157-9804T>A) c.5177T>A (p.Val1726Glu) n.535+6651A>T n.403+6651A>T c.11027T>A (p.Val3676Glu) c.10907T>A (p.Val3636Glu) c.10838T>A (p.Val3613Glu) c.9242T>A (p.Val3081Glu) n.11378T>A n.3145+6651A>T n.3013+6651A>T | |
6 | g.51659025C>A | CA364430036 | PKHD1 | c.11101G>T (p.Val3701Leu) c.10972G>T (p.Val3658Leu) c.10963G>T (p.Val3655Leu) c.10459G>T (p.Val3487Leu) c.10390G>T (p.Val3464Leu) c.10157-9805G>T (n.10157-9805G>T) c.5176G>T (p.Val1726Leu) n.535+6652C>A n.403+6652C>A c.11026G>T (p.Val3676Leu) c.10906G>T (p.Val3636Leu) c.10837G>T (p.Val3613Leu) c.9241G>T (p.Val3081Leu) n.11377G>T n.3145+6652C>A n.3013+6652C>A | dbSNP |
6 | g.51659025C= | CA1628438287 | PKHD1 | c.11101G= (p.Val3701=) c.10972G= (p.Val3658=) c.10963G= (p.Val3655=) c.10459G= (p.Val3487=) c.10390G= (p.Val3464=) c.10157-9805G= (n.10157-9805G=) c.5176G= (p.Val1726=) n.535+6652C= n.403+6652C= c.11026G= (p.Val3676=) c.10906G= (p.Val3636=) c.10837G= (p.Val3613=) c.9241G= (p.Val3081=) n.11377G= n.3145+6652C= n.3013+6652C= | |
6 | g.51659025C>G | CA364430039 | PKHD1 | c.11101G>C (p.Val3701Leu) c.10972G>C (p.Val3658Leu) c.10963G>C (p.Val3655Leu) c.10459G>C (p.Val3487Leu) c.10390G>C (p.Val3464Leu) c.10157-9805G>C (n.10157-9805G>C) c.5176G>C (p.Val1726Leu) n.535+6652C>G n.403+6652C>G c.11026G>C (p.Val3676Leu) c.10906G>C (p.Val3636Leu) c.10837G>C (p.Val3613Leu) c.9241G>C (p.Val3081Leu) n.11377G>C n.3145+6652C>G n.3013+6652C>G | |
6 | g.51659025C>T | CA138896973 | PKHD1 | c.11101G>A (p.Val3701Ile) c.10972G>A (p.Val3658Ile) c.10963G>A (p.Val3655Ile) c.10459G>A (p.Val3487Ile) c.10390G>A (p.Val3464Ile) c.10157-9805G>A (n.10157-9805G>A) c.5176G>A (p.Val1726Ile) n.535+6652C>T n.403+6652C>T c.11026G>A (p.Val3676Ile) c.10906G>A (p.Val3636Ile) c.10837G>A (p.Val3613Ile) c.9241G>A (p.Val3081Ile) n.11377G>A n.3145+6652C>T n.3013+6652C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51659026C>A | CA450612650 | PKHD1 | c.11100G>T (p.Gly3700=) c.10971G>T (p.Gly3657=) c.10962G>T (p.Gly3654=) c.10458G>T (p.Gly3486=) c.10389G>T (p.Gly3463=) c.10157-9806G>T (n.10157-9806G>T) c.5175G>T (p.Gly1725=) n.535+6653C>A n.403+6653C>A c.11025G>T (p.Gly3675=) c.10905G>T (p.Gly3635=) c.10836G>T (p.Gly3612=) c.9240G>T (p.Gly3080=) n.11376G>T n.3145+6653C>A n.3013+6653C>A | |
6 | g.51659026C= | CA1628438293 | PKHD1 | c.11100G= (p.Gly3700=) c.10971G= (p.Gly3657=) c.10962G= (p.Gly3654=) c.10458G= (p.Gly3486=) c.10389G= (p.Gly3463=) c.10157-9806G= (n.10157-9806G=) c.5175G= (p.Gly1725=) n.535+6653C= n.403+6653C= c.11025G= (p.Gly3675=) c.10905G= (p.Gly3635=) c.10836G= (p.Gly3612=) c.9240G= (p.Gly3080=) n.11376G= n.3145+6653C= n.3013+6653C= | |
6 | g.51659026C>G | CA450612649 | PKHD1 | c.11100G>C (p.Gly3700=) c.10971G>C (p.Gly3657=) c.10962G>C (p.Gly3654=) c.10458G>C (p.Gly3486=) c.10389G>C (p.Gly3463=) c.10157-9806G>C (n.10157-9806G>C) c.5175G>C (p.Gly1725=) n.535+6653C>G n.403+6653C>G c.11025G>C (p.Gly3675=) c.10905G>C (p.Gly3635=) c.10836G>C (p.Gly3612=) c.9240G>C (p.Gly3080=) n.11376G>C n.3145+6653C>G n.3013+6653C>G | |
6 | g.51659026C>T | CA450612648 | PKHD1 | c.11100G>A (p.Gly3700=) c.10971G>A (p.Gly3657=) c.10962G>A (p.Gly3654=) c.10458G>A (p.Gly3486=) c.10389G>A (p.Gly3463=) c.10157-9806G>A (n.10157-9806G>A) c.5175G>A (p.Gly1725=) n.535+6653C>T n.403+6653C>T c.11025G>A (p.Gly3675=) c.10905G>A (p.Gly3635=) c.10836G>A (p.Gly3612=) c.9240G>A (p.Gly3080=) n.11376G>A n.3145+6653C>T n.3013+6653C>T | dbSNP |
6 | g.51659027C>A | CA364430044 | PKHD1 | c.11099G>T (p.Gly3700Val) c.10970G>T (p.Gly3657Val) c.10961G>T (p.Gly3654Val) c.10457G>T (p.Gly3486Val) c.10388G>T (p.Gly3463Val) c.10157-9807G>T (n.10157-9807G>T) c.5174G>T (p.Gly1725Val) n.535+6654C>A n.403+6654C>A c.11024G>T (p.Gly3675Val) c.10904G>T (p.Gly3635Val) c.10835G>T (p.Gly3612Val) c.9239G>T (p.Gly3080Val) n.11375G>T n.3145+6654C>A n.3013+6654C>A | |
6 | g.51659027C>G | CA364430046 | PKHD1 | c.11099G>C (p.Gly3700Ala) c.10970G>C (p.Gly3657Ala) c.10961G>C (p.Gly3654Ala) c.10457G>C (p.Gly3486Ala) c.10388G>C (p.Gly3463Ala) c.10157-9807G>C (n.10157-9807G>C) c.5174G>C (p.Gly1725Ala) n.535+6654C>G n.403+6654C>G c.11024G>C (p.Gly3675Ala) c.10904G>C (p.Gly3635Ala) c.10835G>C (p.Gly3612Ala) c.9239G>C (p.Gly3080Ala) n.11375G>C n.3145+6654C>G n.3013+6654C>G | |
6 | g.51659027C>T | CA364430049 | PKHD1 | c.11099G>A (p.Gly3700Glu) c.10970G>A (p.Gly3657Glu) c.10961G>A (p.Gly3654Glu) c.10457G>A (p.Gly3486Glu) c.10388G>A (p.Gly3463Glu) c.10157-9807G>A (n.10157-9807G>A) c.5174G>A (p.Gly1725Glu) n.535+6654C>T n.403+6654C>T c.11024G>A (p.Gly3675Glu) c.10904G>A (p.Gly3635Glu) c.10835G>A (p.Gly3612Glu) c.9239G>A (p.Gly3080Glu) n.11375G>A n.3145+6654C>T n.3013+6654C>T | |
6 | g.51659028C>A | CA364430052 | PKHD1 | c.11098G>T (p.Gly3700Trp) c.10969G>T (p.Gly3657Trp) c.10960G>T (p.Gly3654Trp) c.10456G>T (p.Gly3486Trp) c.10387G>T (p.Gly3463Trp) c.10157-9808G>T (n.10157-9808G>T) c.5173G>T (p.Gly1725Trp) n.535+6655C>A n.403+6655C>A c.11023G>T (p.Gly3675Trp) c.10903G>T (p.Gly3635Trp) c.10834G>T (p.Gly3612Trp) c.9238G>T (p.Gly3080Trp) n.11374G>T n.3145+6655C>A n.3013+6655C>A | |
6 | g.51659028C= | CA1628438296 | PKHD1 | c.11098G= (p.Gly3700=) c.10969G= (p.Gly3657=) c.10960G= (p.Gly3654=) c.10456G= (p.Gly3486=) c.10387G= (p.Gly3463=) c.10157-9808G= (n.10157-9808G=) c.5173G= (p.Gly1725=) n.535+6655C= n.403+6655C= c.11023G= (p.Gly3675=) c.10903G= (p.Gly3635=) c.10834G= (p.Gly3612=) c.9238G= (p.Gly3080=) n.11374G= n.3145+6655C= n.3013+6655C= | |
6 | g.51659028C>G | CA138896974 | PKHD1 | c.11098G>C (p.Gly3700Arg) c.10969G>C (p.Gly3657Arg) c.10960G>C (p.Gly3654Arg) c.10456G>C (p.Gly3486Arg) c.10387G>C (p.Gly3463Arg) c.10157-9808G>C (n.10157-9808G>C) c.5173G>C (p.Gly1725Arg) n.535+6655C>G n.403+6655C>G c.11023G>C (p.Gly3675Arg) c.10903G>C (p.Gly3635Arg) c.10834G>C (p.Gly3612Arg) c.9238G>C (p.Gly3080Arg) n.11374G>C n.3145+6655C>G n.3013+6655C>G | dbSNP gnomAD v4 |
6 | g.51659028C>T | CA364430057 | PKHD1 | c.11098G>A (p.Gly3700Arg) c.10969G>A (p.Gly3657Arg) c.10960G>A (p.Gly3654Arg) c.10456G>A (p.Gly3486Arg) c.10387G>A (p.Gly3463Arg) c.10157-9808G>A (n.10157-9808G>A) c.5173G>A (p.Gly1725Arg) n.535+6655C>T n.403+6655C>T c.11023G>A (p.Gly3675Arg) c.10903G>A (p.Gly3635Arg) c.10834G>A (p.Gly3612Arg) c.9238G>A (p.Gly3080Arg) n.11374G>A n.3145+6655C>T n.3013+6655C>T | dbSNP |
6 | g.51659029A>C | CA450612651 | PKHD1 | c.11097T>G (p.Thr3699=) c.10968T>G (p.Thr3656=) c.10959T>G (p.Thr3653=) c.10455T>G (p.Thr3485=) c.10386T>G (p.Thr3462=) c.10157-9809T>G (n.10157-9809T>G) c.5172T>G (p.Thr1724=) n.535+6656A>C n.403+6656A>C c.11022T>G (p.Thr3674=) c.10902T>G (p.Thr3634=) c.10833T>G (p.Thr3611=) c.9237T>G (p.Thr3079=) n.11373T>G n.3145+6656A>C n.3013+6656A>C | |
6 | g.51659029A>G | CA450612652 | PKHD1 | c.11097T>C (p.Thr3699=) c.10968T>C (p.Thr3656=) c.10959T>C (p.Thr3653=) c.10455T>C (p.Thr3485=) c.10386T>C (p.Thr3462=) c.10157-9809T>C (n.10157-9809T>C) c.5172T>C (p.Thr1724=) n.535+6656A>G n.403+6656A>G c.11022T>C (p.Thr3674=) c.10902T>C (p.Thr3634=) c.10833T>C (p.Thr3611=) c.9237T>C (p.Thr3079=) n.11373T>C n.3145+6656A>G n.3013+6656A>G | |
6 | g.51659029A>T | CA450612653 | PKHD1 | c.11097T>A (p.Thr3699=) c.10968T>A (p.Thr3656=) c.10959T>A (p.Thr3653=) c.10455T>A (p.Thr3485=) c.10386T>A (p.Thr3462=) c.10157-9809T>A (n.10157-9809T>A) c.5172T>A (p.Thr1724=) n.535+6656A>T n.403+6656A>T c.11022T>A (p.Thr3674=) c.10902T>A (p.Thr3634=) c.10833T>A (p.Thr3611=) c.9237T>A (p.Thr3079=) n.11373T>A n.3145+6656A>T n.3013+6656A>T | gnomAD v4 |
6 | g.51659030G>A | CA364430063 | PKHD1 | c.11096C>T (p.Thr3699Ile) c.10967C>T (p.Thr3656Ile) c.10958C>T (p.Thr3653Ile) c.10454C>T (p.Thr3485Ile) c.10385C>T (p.Thr3462Ile) c.10157-9810C>T (n.10157-9810C>T) c.5171C>T (p.Thr1724Ile) n.535+6657G>A n.403+6657G>A c.11021C>T (p.Thr3674Ile) c.10901C>T (p.Thr3634Ile) c.10832C>T (p.Thr3611Ile) c.9236C>T (p.Thr3079Ile) n.11372C>T n.3145+6657G>A n.3013+6657G>A | |
6 | g.51659030G>C | CA364430066 | PKHD1 | c.11096C>G (p.Thr3699Ser) c.10967C>G (p.Thr3656Ser) c.10958C>G (p.Thr3653Ser) c.10454C>G (p.Thr3485Ser) c.10385C>G (p.Thr3462Ser) c.10157-9810C>G (n.10157-9810C>G) c.5171C>G (p.Thr1724Ser) n.535+6657G>C n.403+6657G>C c.11021C>G (p.Thr3674Ser) c.10901C>G (p.Thr3634Ser) c.10832C>G (p.Thr3611Ser) c.9236C>G (p.Thr3079Ser) n.11372C>G n.3145+6657G>C n.3013+6657G>C | |
6 | g.51659030G>T | CA364430061 | PKHD1 | c.11096C>A (p.Thr3699Asn) c.10967C>A (p.Thr3656Asn) c.10958C>A (p.Thr3653Asn) c.10454C>A (p.Thr3485Asn) c.10385C>A (p.Thr3462Asn) c.10157-9810C>A (n.10157-9810C>A) c.5171C>A (p.Thr1724Asn) n.535+6657G>T n.403+6657G>T c.11021C>A (p.Thr3674Asn) c.10901C>A (p.Thr3634Asn) c.10832C>A (p.Thr3611Asn) c.9236C>A (p.Thr3079Asn) n.11372C>A n.3145+6657G>T n.3013+6657G>T | |
6 | g.51659031T>A | CA364430073 | PKHD1 | c.11095A>T (p.Thr3699Ser) c.10966A>T (p.Thr3656Ser) c.10957A>T (p.Thr3653Ser) c.10453A>T (p.Thr3485Ser) c.10384A>T (p.Thr3462Ser) c.10157-9811A>T (n.10157-9811A>T) c.5170A>T (p.Thr1724Ser) n.535+6658T>A n.403+6658T>A c.11020A>T (p.Thr3674Ser) c.10900A>T (p.Thr3634Ser) c.10831A>T (p.Thr3611Ser) c.9235A>T (p.Thr3079Ser) n.11371A>T n.3145+6658T>A n.3013+6658T>A | |
6 | g.51659031T>C | CA364430070 | PKHD1 | c.11095A>G (p.Thr3699Ala) c.10966A>G (p.Thr3656Ala) c.10957A>G (p.Thr3653Ala) c.10453A>G (p.Thr3485Ala) c.10384A>G (p.Thr3462Ala) c.10157-9811A>G (n.10157-9811A>G) c.5170A>G (p.Thr1724Ala) n.535+6658T>C n.403+6658T>C c.11020A>G (p.Thr3674Ala) c.10900A>G (p.Thr3634Ala) c.10831A>G (p.Thr3611Ala) c.9235A>G (p.Thr3079Ala) n.11371A>G n.3145+6658T>C n.3013+6658T>C | |
6 | g.51659031T>G | CA364430075 | PKHD1 | c.11095A>C (p.Thr3699Pro) c.10966A>C (p.Thr3656Pro) c.10957A>C (p.Thr3653Pro) c.10453A>C (p.Thr3485Pro) c.10384A>C (p.Thr3462Pro) c.10157-9811A>C (n.10157-9811A>C) c.5170A>C (p.Thr1724Pro) n.535+6658T>G n.403+6658T>G c.11020A>C (p.Thr3674Pro) c.10900A>C (p.Thr3634Pro) c.10831A>C (p.Thr3611Pro) c.9235A>C (p.Thr3079Pro) n.11371A>C n.3145+6658T>G n.3013+6658T>G | |
6 | g.51659032_51659033insATC | CA2679076975 | PKHD1 | c.11095_11096insTGA (p.Gln3698_Thr3699insMet) c.10966_10967insTGA (p.Gln3655_Thr3656insMet) c.10957_10958insTGA (p.Gln3652_Thr3653insMet) c.10453_10454insTGA (p.Gln3484_Thr3485insMet) c.10384_10385insTGA (p.Gln3461_Thr3462insMet) c.10157-9811_10157-9810insTGA (n.10157-9811_10157-9810insTGA) c.5170_5171insTGA (p.Gln1723_Thr1724insMet) n.535+6659_535+6660insATC n.403+6659_403+6660insATC c.11020_11021insTGA (p.Gln3673_Thr3674insMet) c.10900_10901insTGA (p.Gln3633_Thr3634insMet) c.10831_10832insTGA (p.Gln3610_Thr3611insMet) c.9235_9236insTGA (p.Gln3078_Thr3079insMet) n.11371_11372insTGA n.3145+6659_3145+6660insATC n.3013+6659_3013+6660insATC | gnomAD v4 |
6 | g.51659032C>A | CA364430077 | PKHD1 | c.11094G>T (p.Gln3698His) c.10965G>T (p.Gln3655His) c.10956G>T (p.Gln3652His) c.10452G>T (p.Gln3484His) c.10383G>T (p.Gln3461His) c.10157-9812G>T (n.10157-9812G>T) c.5169G>T (p.Gln1723His) n.535+6659C>A n.403+6659C>A c.11019G>T (p.Gln3673His) c.10899G>T (p.Gln3633His) c.10830G>T (p.Gln3610His) c.9234G>T (p.Gln3078His) n.11370G>T n.3145+6659C>A n.3013+6659C>A | |
6 | g.51659032C>G | CA364430080 | PKHD1 | c.11094G>C (p.Gln3698His) c.10965G>C (p.Gln3655His) c.10956G>C (p.Gln3652His) c.10452G>C (p.Gln3484His) c.10383G>C (p.Gln3461His) c.10157-9812G>C (n.10157-9812G>C) c.5169G>C (p.Gln1723His) n.535+6659C>G n.403+6659C>G c.11019G>C (p.Gln3673His) c.10899G>C (p.Gln3633His) c.10830G>C (p.Gln3610His) c.9234G>C (p.Gln3078His) n.11370G>C n.3145+6659C>G n.3013+6659C>G | |
6 | g.51659032C>T | CA450612654 | PKHD1 | c.11094G>A (p.Gln3698=) c.10965G>A (p.Gln3655=) c.10956G>A (p.Gln3652=) c.10452G>A (p.Gln3484=) c.10383G>A (p.Gln3461=) c.10157-9812G>A (n.10157-9812G>A) c.5169G>A (p.Gln1723=) n.535+6659C>T n.403+6659C>T c.11019G>A (p.Gln3673=) c.10899G>A (p.Gln3633=) c.10830G>A (p.Gln3610=) c.9234G>A (p.Gln3078=) n.11370G>A n.3145+6659C>T n.3013+6659C>T | gnomAD v4 COSMIC |
6 | g.51659033T>A | CA364430084 | PKHD1 | c.11093A>T (p.Gln3698Leu) c.10964A>T (p.Gln3655Leu) c.10955A>T (p.Gln3652Leu) c.10451A>T (p.Gln3484Leu) c.10382A>T (p.Gln3461Leu) c.10157-9813A>T (n.10157-9813A>T) c.5168A>T (p.Gln1723Leu) n.535+6660T>A n.403+6660T>A c.11018A>T (p.Gln3673Leu) c.10898A>T (p.Gln3633Leu) c.10829A>T (p.Gln3610Leu) c.9233A>T (p.Gln3078Leu) n.11369A>T n.3145+6660T>A n.3013+6660T>A | |
6 | g.51659033T>C | CA364430087 | PKHD1 | c.11093A>G (p.Gln3698Arg) c.10964A>G (p.Gln3655Arg) c.10955A>G (p.Gln3652Arg) c.10451A>G (p.Gln3484Arg) c.10382A>G (p.Gln3461Arg) c.10157-9813A>G (n.10157-9813A>G) c.5168A>G (p.Gln1723Arg) n.535+6660T>C n.403+6660T>C c.11018A>G (p.Gln3673Arg) c.10898A>G (p.Gln3633Arg) c.10829A>G (p.Gln3610Arg) c.9233A>G (p.Gln3078Arg) n.11369A>G n.3145+6660T>C n.3013+6660T>C | |
6 | g.51659033T>G | CA3850961 | PKHD1 | c.11093A>C (p.Gln3698Pro) c.10964A>C (p.Gln3655Pro) c.10955A>C (p.Gln3652Pro) c.10451A>C (p.Gln3484Pro) c.10382A>C (p.Gln3461Pro) c.10157-9813A>C (n.10157-9813A>C) c.5168A>C (p.Gln1723Pro) n.535+6660T>G n.403+6660T>G c.11018A>C (p.Gln3673Pro) c.10898A>C (p.Gln3633Pro) c.10829A>C (p.Gln3610Pro) c.9233A>C (p.Gln3078Pro) n.11369A>C n.3145+6660T>G n.3013+6660T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51659033T= | CA1628438298 | PKHD1 | c.11093A= (p.Gln3698=) c.10964A= (p.Gln3655=) c.10955A= (p.Gln3652=) c.10451A= (p.Gln3484=) c.10382A= (p.Gln3461=) c.10157-9813A= (n.10157-9813A=) c.5168A= (p.Gln1723=) n.535+6660T= n.403+6660T= c.11018A= (p.Gln3673=) c.10898A= (p.Gln3633=) c.10829A= (p.Gln3610=) c.9233A= (p.Gln3078=) n.11369A= n.3145+6660T= n.3013+6660T= | |
6 | g.51659034G>A | CA364430089 | PKHD1 | c.11092C>T (p.Gln3698Ter) c.10963C>T (p.Gln3655Ter) c.10954C>T (p.Gln3652Ter) c.10450C>T (p.Gln3484Ter) c.10381C>T (p.Gln3461Ter) c.10157-9814C>T (n.10157-9814C>T) c.5167C>T (p.Gln1723Ter) n.535+6661G>A n.403+6661G>A c.11017C>T (p.Gln3673Ter) c.10897C>T (p.Gln3633Ter) c.10828C>T (p.Gln3610Ter) c.9232C>T (p.Gln3078Ter) n.11368C>T n.3145+6661G>A n.3013+6661G>A | ClinVar |
6 | g.51659034G>C | CA364430092 | PKHD1 | c.11092C>G (p.Gln3698Glu) c.10963C>G (p.Gln3655Glu) c.10954C>G (p.Gln3652Glu) c.10450C>G (p.Gln3484Glu) c.10381C>G (p.Gln3461Glu) c.10157-9814C>G (n.10157-9814C>G) c.5167C>G (p.Gln1723Glu) n.535+6661G>C n.403+6661G>C c.11017C>G (p.Gln3673Glu) c.10897C>G (p.Gln3633Glu) c.10828C>G (p.Gln3610Glu) c.9232C>G (p.Gln3078Glu) n.11368C>G n.3145+6661G>C n.3013+6661G>C | |
6 | g.51659034G>T | CA364430097 | PKHD1 | c.11092C>A (p.Gln3698Lys) c.10963C>A (p.Gln3655Lys) c.10954C>A (p.Gln3652Lys) c.10450C>A (p.Gln3484Lys) c.10381C>A (p.Gln3461Lys) c.10157-9814C>A (n.10157-9814C>A) c.5167C>A (p.Gln1723Lys) n.535+6661G>T n.403+6661G>T c.11017C>A (p.Gln3673Lys) c.10897C>A (p.Gln3633Lys) c.10828C>A (p.Gln3610Lys) c.9232C>A (p.Gln3078Lys) n.11368C>A n.3145+6661G>T n.3013+6661G>T | ClinVar |
6 | g.51659035T>A | CA364430101 | PKHD1 | c.11091A>T (p.Gln3697His) c.10962A>T (p.Gln3654His) c.10953A>T (p.Gln3651His) c.10449A>T (p.Gln3483His) c.10380A>T (p.Gln3460His) c.10157-9815A>T (n.10157-9815A>T) c.5166A>T (p.Gln1722His) n.535+6662T>A n.403+6662T>A c.11016A>T (p.Gln3672His) c.10896A>T (p.Gln3632His) c.10827A>T (p.Gln3609His) c.9231A>T (p.Gln3077His) n.11367A>T n.3145+6662T>A n.3013+6662T>A | |
6 | g.51659035T>C | CA450612655 | PKHD1 | c.11091A>G (p.Gln3697=) c.10962A>G (p.Gln3654=) c.10953A>G (p.Gln3651=) c.10449A>G (p.Gln3483=) c.10380A>G (p.Gln3460=) c.10157-9815A>G (n.10157-9815A>G) c.5166A>G (p.Gln1722=) n.535+6662T>C n.403+6662T>C c.11016A>G (p.Gln3672=) c.10896A>G (p.Gln3632=) c.10827A>G (p.Gln3609=) c.9231A>G (p.Gln3077=) n.11367A>G n.3145+6662T>C n.3013+6662T>C | ClinVar |
6 | g.51659035T>G | CA364430102 | PKHD1 | c.11091A>C (p.Gln3697His) c.10962A>C (p.Gln3654His) c.10953A>C (p.Gln3651His) c.10449A>C (p.Gln3483His) c.10380A>C (p.Gln3460His) c.10157-9815A>C (n.10157-9815A>C) c.5166A>C (p.Gln1722His) n.535+6662T>G n.403+6662T>G c.11016A>C (p.Gln3672His) c.10896A>C (p.Gln3632His) c.10827A>C (p.Gln3609His) c.9231A>C (p.Gln3077His) n.11367A>C n.3145+6662T>G n.3013+6662T>G | |
6 | g.51659036T>A | CA364430103 | PKHD1 | c.11090A>T (p.Gln3697Leu) c.10961A>T (p.Gln3654Leu) c.10952A>T (p.Gln3651Leu) c.10448A>T (p.Gln3483Leu) c.10379A>T (p.Gln3460Leu) c.10157-9816A>T (n.10157-9816A>T) c.5165A>T (p.Gln1722Leu) n.535+6663T>A n.403+6663T>A c.11015A>T (p.Gln3672Leu) c.10895A>T (p.Gln3632Leu) c.10826A>T (p.Gln3609Leu) c.9230A>T (p.Gln3077Leu) n.11366A>T n.3145+6663T>A n.3013+6663T>A | |
6 | g.51659036T>C | CA364430106 | PKHD1 | c.11090A>G (p.Gln3697Arg) c.10961A>G (p.Gln3654Arg) c.10952A>G (p.Gln3651Arg) c.10448A>G (p.Gln3483Arg) c.10379A>G (p.Gln3460Arg) c.10157-9816A>G (n.10157-9816A>G) c.5165A>G (p.Gln1722Arg) n.535+6663T>C n.403+6663T>C c.11015A>G (p.Gln3672Arg) c.10895A>G (p.Gln3632Arg) c.10826A>G (p.Gln3609Arg) c.9230A>G (p.Gln3077Arg) n.11366A>G n.3145+6663T>C n.3013+6663T>C | |
6 | g.51659036T>G | CA364430108 | PKHD1 | c.11090A>C (p.Gln3697Pro) c.10961A>C (p.Gln3654Pro) c.10952A>C (p.Gln3651Pro) c.10448A>C (p.Gln3483Pro) c.10379A>C (p.Gln3460Pro) c.10157-9816A>C (n.10157-9816A>C) c.5165A>C (p.Gln1722Pro) n.535+6663T>G n.403+6663T>G c.11015A>C (p.Gln3672Pro) c.10895A>C (p.Gln3632Pro) c.10826A>C (p.Gln3609Pro) c.9230A>C (p.Gln3077Pro) n.11366A>C n.3145+6663T>G n.3013+6663T>G | |
6 | g.51659037del | CA2695206412 | PKHD1 | c.11089del (p.Gln3697AsnfsTer6) c.10960del (p.Gln3654AsnfsTer6) c.10951del (p.Gln3651AsnfsTer6) c.10447del (p.Gln3483AsnfsTer6) c.10378del (p.Gln3460AsnfsTer6) c.10157-9817del (n.10157-9817del) c.5164del (p.Gln1722AsnfsTer6) n.535+6664del n.403+6664del c.11014del (p.Gln3672AsnfsTer6) c.10894del (p.Gln3632AsnfsTer6) c.10825del (p.Gln3609AsnfsTer6) c.9229del (p.Gln3077AsnfsTer6) n.11365del n.3145+6664del n.3013+6664del | |
6 | g.51659037G>A | CA364430118 | PKHD1 | c.11089C>T (p.Gln3697Ter) c.10960C>T (p.Gln3654Ter) c.10951C>T (p.Gln3651Ter) c.10447C>T (p.Gln3483Ter) c.10378C>T (p.Gln3460Ter) c.10157-9817C>T (n.10157-9817C>T) c.5164C>T (p.Gln1722Ter) n.535+6664G>A n.403+6664G>A c.11014C>T (p.Gln3672Ter) c.10894C>T (p.Gln3632Ter) c.10825C>T (p.Gln3609Ter) c.9229C>T (p.Gln3077Ter) n.11365C>T n.3145+6664G>A n.3013+6664G>A | ClinVar dbSNP gnomAD v4 |
6 | g.51659037G>C | CA364430115 | PKHD1 | c.11089C>G (p.Gln3697Glu) c.10960C>G (p.Gln3654Glu) c.10951C>G (p.Gln3651Glu) c.10447C>G (p.Gln3483Glu) c.10378C>G (p.Gln3460Glu) c.10157-9817C>G (n.10157-9817C>G) c.5164C>G (p.Gln1722Glu) n.535+6664G>C n.403+6664G>C c.11014C>G (p.Gln3672Glu) c.10894C>G (p.Gln3632Glu) c.10825C>G (p.Gln3609Glu) c.9229C>G (p.Gln3077Glu) n.11365C>G n.3145+6664G>C n.3013+6664G>C | gnomAD v4 |
6 | g.51659037G= | CA1628438301 | PKHD1 | c.11089C= (p.Gln3697=) c.10960C= (p.Gln3654=) c.10951C= (p.Gln3651=) c.10447C= (p.Gln3483=) c.10378C= (p.Gln3460=) c.10157-9817C= (n.10157-9817C=) c.5164C= (p.Gln1722=) n.535+6664G= n.403+6664G= c.11014C= (p.Gln3672=) c.10894C= (p.Gln3632=) c.10825C= (p.Gln3609=) c.9229C= (p.Gln3077=) n.11365C= n.3145+6664G= n.3013+6664G= | |
6 | g.51659037G>T | CA364430112 | PKHD1 | c.11089C>A (p.Gln3697Lys) c.10960C>A (p.Gln3654Lys) c.10951C>A (p.Gln3651Lys) c.10447C>A (p.Gln3483Lys) c.10378C>A (p.Gln3460Lys) c.10157-9817C>A (n.10157-9817C>A) c.5164C>A (p.Gln1722Lys) n.535+6664G>T n.403+6664G>T c.11014C>A (p.Gln3672Lys) c.10894C>A (p.Gln3632Lys) c.10825C>A (p.Gln3609Lys) c.9229C>A (p.Gln3077Lys) n.11365C>A n.3145+6664G>T n.3013+6664G>T | |
6 | g.51659038A>C | CA450612656 | PKHD1 | c.11088T>G (p.Ala3696=) c.10959T>G (p.Ala3653=) c.10950T>G (p.Ala3650=) c.10446T>G (p.Ala3482=) c.10377T>G (p.Ala3459=) c.10157-9818T>G (n.10157-9818T>G) c.5163T>G (p.Ala1721=) n.535+6665A>C n.403+6665A>C c.11013T>G (p.Ala3671=) c.10893T>G (p.Ala3631=) c.10824T>G (p.Ala3608=) c.9228T>G (p.Ala3076=) n.11364T>G n.3145+6665A>C n.3013+6665A>C | |
6 | g.51659038A>G | CA450612657 | PKHD1 | c.11088T>C (p.Ala3696=) c.10959T>C (p.Ala3653=) c.10950T>C (p.Ala3650=) c.10446T>C (p.Ala3482=) c.10377T>C (p.Ala3459=) c.10157-9818T>C (n.10157-9818T>C) c.5163T>C (p.Ala1721=) n.535+6665A>G n.403+6665A>G c.11013T>C (p.Ala3671=) c.10893T>C (p.Ala3631=) c.10824T>C (p.Ala3608=) c.9228T>C (p.Ala3076=) n.11364T>C n.3145+6665A>G n.3013+6665A>G | ClinVar gnomAD v4 |
6 | g.51659038A>T | CA450612658 | PKHD1 | c.11088T>A (p.Ala3696=) c.10959T>A (p.Ala3653=) c.10950T>A (p.Ala3650=) c.10446T>A (p.Ala3482=) c.10377T>A (p.Ala3459=) c.10157-9818T>A (n.10157-9818T>A) c.5163T>A (p.Ala1721=) n.535+6665A>T n.403+6665A>T c.11013T>A (p.Ala3671=) c.10893T>A (p.Ala3631=) c.10824T>A (p.Ala3608=) c.9228T>A (p.Ala3076=) n.11364T>A n.3145+6665A>T n.3013+6665A>T | |
6 | g.51659039G>A | CA364430121 | PKHD1 | c.11087C>T (p.Ala3696Val) c.10958C>T (p.Ala3653Val) c.10949C>T (p.Ala3650Val) c.10445C>T (p.Ala3482Val) c.10376C>T (p.Ala3459Val) c.10157-9819C>T (n.10157-9819C>T) c.5162C>T (p.Ala1721Val) n.535+6666G>A n.403+6666G>A c.11012C>T (p.Ala3671Val) c.10892C>T (p.Ala3631Val) c.10823C>T (p.Ala3608Val) c.9227C>T (p.Ala3076Val) n.11363C>T n.3145+6666G>A n.3013+6666G>A | gnomAD v4 |
6 | g.51659039G>C | CA364430123 | PKHD1 | c.11087C>G (p.Ala3696Gly) c.10958C>G (p.Ala3653Gly) c.10949C>G (p.Ala3650Gly) c.10445C>G (p.Ala3482Gly) c.10376C>G (p.Ala3459Gly) c.10157-9819C>G (n.10157-9819C>G) c.5162C>G (p.Ala1721Gly) n.535+6666G>C n.403+6666G>C c.11012C>G (p.Ala3671Gly) c.10892C>G (p.Ala3631Gly) c.10823C>G (p.Ala3608Gly) c.9227C>G (p.Ala3076Gly) n.11363C>G n.3145+6666G>C n.3013+6666G>C | |
6 | g.51659039G>T | CA364430126 | PKHD1 | c.11087C>A (p.Ala3696Asp) c.10958C>A (p.Ala3653Asp) c.10949C>A (p.Ala3650Asp) c.10445C>A (p.Ala3482Asp) c.10376C>A (p.Ala3459Asp) c.10157-9819C>A (n.10157-9819C>A) c.5162C>A (p.Ala1721Asp) n.535+6666G>T n.403+6666G>T c.11012C>A (p.Ala3671Asp) c.10892C>A (p.Ala3631Asp) c.10823C>A (p.Ala3608Asp) c.9227C>A (p.Ala3076Asp) n.11363C>A n.3145+6666G>T n.3013+6666G>T | |
6 | g.51659040C>A | CA364430130 | PKHD1 | c.11086G>T (p.Ala3696Ser) c.10957G>T (p.Ala3653Ser) c.10948G>T (p.Ala3650Ser) c.10444G>T (p.Ala3482Ser) c.10375G>T (p.Ala3459Ser) c.10157-9820G>T (n.10157-9820G>T) c.5161G>T (p.Ala1721Ser) n.535+6667C>A n.403+6667C>A c.11011G>T (p.Ala3671Ser) c.10891G>T (p.Ala3631Ser) c.10822G>T (p.Ala3608Ser) c.9226G>T (p.Ala3076Ser) n.11362G>T n.3145+6667C>A n.3013+6667C>A | |
6 | g.51659040C>G | CA364430132 | PKHD1 | c.11086G>C (p.Ala3696Pro) c.10957G>C (p.Ala3653Pro) c.10948G>C (p.Ala3650Pro) c.10444G>C (p.Ala3482Pro) c.10375G>C (p.Ala3459Pro) c.10157-9820G>C (n.10157-9820G>C) c.5161G>C (p.Ala1721Pro) n.535+6667C>G n.403+6667C>G c.11011G>C (p.Ala3671Pro) c.10891G>C (p.Ala3631Pro) c.10822G>C (p.Ala3608Pro) c.9226G>C (p.Ala3076Pro) n.11362G>C n.3145+6667C>G n.3013+6667C>G | |
6 | g.51659040C>T | CA364430134 | PKHD1 | c.11086G>A (p.Ala3696Thr) c.10957G>A (p.Ala3653Thr) c.10948G>A (p.Ala3650Thr) c.10444G>A (p.Ala3482Thr) c.10375G>A (p.Ala3459Thr) c.10157-9820G>A (n.10157-9820G>A) c.5161G>A (p.Ala1721Thr) n.535+6667C>T n.403+6667C>T c.11011G>A (p.Ala3671Thr) c.10891G>A (p.Ala3631Thr) c.10822G>A (p.Ala3608Thr) c.9226G>A (p.Ala3076Thr) n.11362G>A n.3145+6667C>T n.3013+6667C>T | |
6 | g.51659041A= | CA1628438304 | PKHD1 | c.11085T= (p.Thr3695=) c.10956T= (p.Thr3652=) c.10947T= (p.Thr3649=) c.10443T= (p.Thr3481=) c.10374T= (p.Thr3458=) c.10157-9821T= (n.10157-9821T=) c.5160T= (p.Thr1720=) n.535+6668A= n.403+6668A= c.11010T= (p.Thr3670=) c.10890T= (p.Thr3630=) c.10821T= (p.Thr3607=) c.9225T= (p.Thr3075=) n.11361T= n.3145+6668A= n.3013+6668A= | |
6 | g.51659041A>C | CA450612659 | PKHD1 | c.11085T>G (p.Thr3695=) c.10956T>G (p.Thr3652=) c.10947T>G (p.Thr3649=) c.10443T>G (p.Thr3481=) c.10374T>G (p.Thr3458=) c.10157-9821T>G (n.10157-9821T>G) c.5160T>G (p.Thr1720=) n.535+6668A>C n.403+6668A>C c.11010T>G (p.Thr3670=) c.10890T>G (p.Thr3630=) c.10821T>G (p.Thr3607=) c.9225T>G (p.Thr3075=) n.11361T>G n.3145+6668A>C n.3013+6668A>C | |
6 | g.51659041A>G | CA450612660 | PKHD1 | c.11085T>C (p.Thr3695=) c.10956T>C (p.Thr3652=) c.10947T>C (p.Thr3649=) c.10443T>C (p.Thr3481=) c.10374T>C (p.Thr3458=) c.10157-9821T>C (n.10157-9821T>C) c.5160T>C (p.Thr1720=) n.535+6668A>G n.403+6668A>G c.11010T>C (p.Thr3670=) c.10890T>C (p.Thr3630=) c.10821T>C (p.Thr3607=) c.9225T>C (p.Thr3075=) n.11361T>C n.3145+6668A>G n.3013+6668A>G | |
6 | g.51659041A>T | CA3850962 | PKHD1 | c.11085T>A (p.Thr3695=) c.10956T>A (p.Thr3652=) c.10947T>A (p.Thr3649=) c.10443T>A (p.Thr3481=) c.10374T>A (p.Thr3458=) c.10157-9821T>A (n.10157-9821T>A) c.5160T>A (p.Thr1720=) n.535+6668A>T n.403+6668A>T c.11010T>A (p.Thr3670=) c.10890T>A (p.Thr3630=) c.10821T>A (p.Thr3607=) c.9225T>A (p.Thr3075=) n.11361T>A n.3145+6668A>T n.3013+6668A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51659042G>A | CA3850963 | PKHD1 | c.11084C>T (p.Thr3695Ile) c.10955C>T (p.Thr3652Ile) c.10946C>T (p.Thr3649Ile) c.10442C>T (p.Thr3481Ile) c.10373C>T (p.Thr3458Ile) c.10157-9822C>T (n.10157-9822C>T) c.5159C>T (p.Thr1720Ile) n.535+6669G>A n.403+6669G>A c.11009C>T (p.Thr3670Ile) c.10889C>T (p.Thr3630Ile) c.10820C>T (p.Thr3607Ile) c.9224C>T (p.Thr3075Ile) n.11360C>T n.3145+6669G>A n.3013+6669G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51659042G>C | CA364430142 | PKHD1 | c.11084C>G (p.Thr3695Ser) c.10955C>G (p.Thr3652Ser) c.10946C>G (p.Thr3649Ser) c.10442C>G (p.Thr3481Ser) c.10373C>G (p.Thr3458Ser) c.10157-9822C>G (n.10157-9822C>G) c.5159C>G (p.Thr1720Ser) n.535+6669G>C n.403+6669G>C c.11009C>G (p.Thr3670Ser) c.10889C>G (p.Thr3630Ser) c.10820C>G (p.Thr3607Ser) c.9224C>G (p.Thr3075Ser) n.11360C>G n.3145+6669G>C n.3013+6669G>C | |
6 | g.51659042G= | CA1628438307 | PKHD1 | c.11084C= (p.Thr3695=) c.10955C= (p.Thr3652=) c.10946C= (p.Thr3649=) c.10442C= (p.Thr3481=) c.10373C= (p.Thr3458=) c.10157-9822C= (n.10157-9822C=) c.5159C= (p.Thr1720=) n.535+6669G= n.403+6669G= c.11009C= (p.Thr3670=) c.10889C= (p.Thr3630=) c.10820C= (p.Thr3607=) c.9224C= (p.Thr3075=) n.11360C= n.3145+6669G= n.3013+6669G= | |
6 | g.51659042G>T | CA364430144 | PKHD1 | c.11084C>A (p.Thr3695Asn) c.10955C>A (p.Thr3652Asn) c.10946C>A (p.Thr3649Asn) c.10442C>A (p.Thr3481Asn) c.10373C>A (p.Thr3458Asn) c.10157-9822C>A (n.10157-9822C>A) c.5159C>A (p.Thr1720Asn) n.535+6669G>T n.403+6669G>T c.11009C>A (p.Thr3670Asn) c.10889C>A (p.Thr3630Asn) c.10820C>A (p.Thr3607Asn) c.9224C>A (p.Thr3075Asn) n.11360C>A n.3145+6669G>T n.3013+6669G>T | |
6 | g.51659043T>A | CA364430149 | PKHD1 | c.11083A>T (p.Thr3695Ser) c.10954A>T (p.Thr3652Ser) c.10945A>T (p.Thr3649Ser) c.10441A>T (p.Thr3481Ser) c.10372A>T (p.Thr3458Ser) c.10157-9823A>T (n.10157-9823A>T) c.5158A>T (p.Thr1720Ser) n.535+6670T>A n.403+6670T>A c.11008A>T (p.Thr3670Ser) c.10888A>T (p.Thr3630Ser) c.10819A>T (p.Thr3607Ser) c.9223A>T (p.Thr3075Ser) n.11359A>T n.3145+6670T>A n.3013+6670T>A | |
6 | g.51659043T>C | CA364430152 | PKHD1 | c.11083A>G (p.Thr3695Ala) c.10954A>G (p.Thr3652Ala) c.10945A>G (p.Thr3649Ala) c.10441A>G (p.Thr3481Ala) c.10372A>G (p.Thr3458Ala) c.10157-9823A>G (n.10157-9823A>G) c.5158A>G (p.Thr1720Ala) n.535+6670T>C n.403+6670T>C c.11008A>G (p.Thr3670Ala) c.10888A>G (p.Thr3630Ala) c.10819A>G (p.Thr3607Ala) c.9223A>G (p.Thr3075Ala) n.11359A>G n.3145+6670T>C n.3013+6670T>C | |
6 | g.51659043T>G | CA364430155 | PKHD1 | c.11083A>C (p.Thr3695Pro) c.10954A>C (p.Thr3652Pro) c.10945A>C (p.Thr3649Pro) c.10441A>C (p.Thr3481Pro) c.10372A>C (p.Thr3458Pro) c.10157-9823A>C (n.10157-9823A>C) c.5158A>C (p.Thr1720Pro) n.535+6670T>G n.403+6670T>G c.11008A>C (p.Thr3670Pro) c.10888A>C (p.Thr3630Pro) c.10819A>C (p.Thr3607Pro) c.9223A>C (p.Thr3075Pro) n.11359A>C n.3145+6670T>G n.3013+6670T>G | |
6 | g.51659044G>A | CA450612662 | PKHD1 | c.11082C>T (p.Ile3694=) c.10953C>T (p.Ile3651=) c.10944C>T (p.Ile3648=) c.10440C>T (p.Ile3480=) c.10371C>T (p.Ile3457=) c.10157-9824C>T (n.10157-9824C>T) c.5157C>T (p.Ile1719=) n.535+6671G>A n.403+6671G>A c.11007C>T (p.Ile3669=) c.10887C>T (p.Ile3629=) c.10818C>T (p.Ile3606=) c.9222C>T (p.Ile3074=) n.11358C>T n.3145+6671G>A n.3013+6671G>A | |
6 | g.51659044G>C | CA364430158 | PKHD1 | c.11082C>G (p.Ile3694Met) c.10953C>G (p.Ile3651Met) c.10944C>G (p.Ile3648Met) c.10440C>G (p.Ile3480Met) c.10371C>G (p.Ile3457Met) c.10157-9824C>G (n.10157-9824C>G) c.5157C>G (p.Ile1719Met) n.535+6671G>C n.403+6671G>C c.11007C>G (p.Ile3669Met) c.10887C>G (p.Ile3629Met) c.10818C>G (p.Ile3606Met) c.9222C>G (p.Ile3074Met) n.11358C>G n.3145+6671G>C n.3013+6671G>C | |
6 | g.51659044G>T | CA450612661 | PKHD1 | c.11082C>A (p.Ile3694=) c.10953C>A (p.Ile3651=) c.10944C>A (p.Ile3648=) c.10440C>A (p.Ile3480=) c.10371C>A (p.Ile3457=) c.10157-9824C>A (n.10157-9824C>A) c.5157C>A (p.Ile1719=) n.535+6671G>T n.403+6671G>T c.11007C>A (p.Ile3669=) c.10887C>A (p.Ile3629=) c.10818C>A (p.Ile3606=) c.9222C>A (p.Ile3074=) n.11358C>A n.3145+6671G>T n.3013+6671G>T | gnomAD v4 |
6 | g.51659045A>C | CA364430165 | PKHD1 | c.11081T>G (p.Ile3694Ser) c.10952T>G (p.Ile3651Ser) c.10943T>G (p.Ile3648Ser) c.10439T>G (p.Ile3480Ser) c.10370T>G (p.Ile3457Ser) c.10157-9825T>G (n.10157-9825T>G) c.5156T>G (p.Ile1719Ser) n.535+6672A>C n.403+6672A>C c.11006T>G (p.Ile3669Ser) c.10886T>G (p.Ile3629Ser) c.10817T>G (p.Ile3606Ser) c.9221T>G (p.Ile3074Ser) n.11357T>G n.3145+6672A>C n.3013+6672A>C | |
6 | g.51659045A>G | CA364430163 | PKHD1 | c.11081T>C (p.Ile3694Thr) c.10952T>C (p.Ile3651Thr) c.10943T>C (p.Ile3648Thr) c.10439T>C (p.Ile3480Thr) c.10370T>C (p.Ile3457Thr) c.10157-9825T>C (n.10157-9825T>C) c.5156T>C (p.Ile1719Thr) n.535+6672A>G n.403+6672A>G c.11006T>C (p.Ile3669Thr) c.10886T>C (p.Ile3629Thr) c.10817T>C (p.Ile3606Thr) c.9221T>C (p.Ile3074Thr) n.11357T>C n.3145+6672A>G n.3013+6672A>G | gnomAD v4 |
6 | g.51659045A>T | CA364430160 | PKHD1 | c.11081T>A (p.Ile3694Asn) c.10952T>A (p.Ile3651Asn) c.10943T>A (p.Ile3648Asn) c.10439T>A (p.Ile3480Asn) c.10370T>A (p.Ile3457Asn) c.10157-9825T>A (n.10157-9825T>A) c.5156T>A (p.Ile1719Asn) n.535+6672A>T n.403+6672A>T c.11006T>A (p.Ile3669Asn) c.10886T>A (p.Ile3629Asn) c.10817T>A (p.Ile3606Asn) c.9221T>A (p.Ile3074Asn) n.11357T>A n.3145+6672A>T n.3013+6672A>T | gnomAD v4 |
6 | g.51659046T>A | CA364430166 | PKHD1 | c.11080A>T (p.Ile3694Phe) c.10951A>T (p.Ile3651Phe) c.10942A>T (p.Ile3648Phe) c.10438A>T (p.Ile3480Phe) c.10369A>T (p.Ile3457Phe) c.10157-9826A>T (n.10157-9826A>T) c.5155A>T (p.Ile1719Phe) n.535+6673T>A n.403+6673T>A c.11005A>T (p.Ile3669Phe) c.10885A>T (p.Ile3629Phe) c.10816A>T (p.Ile3606Phe) c.9220A>T (p.Ile3074Phe) n.11356A>T n.3145+6673T>A n.3013+6673T>A | |
6 | g.51659046T>C | CA364430167 | PKHD1 | c.11080A>G (p.Ile3694Val) c.10951A>G (p.Ile3651Val) c.10942A>G (p.Ile3648Val) c.10438A>G (p.Ile3480Val) c.10369A>G (p.Ile3457Val) c.10157-9826A>G (n.10157-9826A>G) c.5155A>G (p.Ile1719Val) n.535+6673T>C n.403+6673T>C c.11005A>G (p.Ile3669Val) c.10885A>G (p.Ile3629Val) c.10816A>G (p.Ile3606Val) c.9220A>G (p.Ile3074Val) n.11356A>G n.3145+6673T>C n.3013+6673T>C | dbSNP gnomAD v4 |
6 | g.51659046T>G | CA364430168 | PKHD1 | c.11080A>C (p.Ile3694Leu) c.10951A>C (p.Ile3651Leu) c.10942A>C (p.Ile3648Leu) c.10438A>C (p.Ile3480Leu) c.10369A>C (p.Ile3457Leu) c.10157-9826A>C (n.10157-9826A>C) c.5155A>C (p.Ile1719Leu) n.535+6673T>G n.403+6673T>G c.11005A>C (p.Ile3669Leu) c.10885A>C (p.Ile3629Leu) c.10816A>C (p.Ile3606Leu) c.9220A>C (p.Ile3074Leu) n.11356A>C n.3145+6673T>G n.3013+6673T>G | |
6 | g.51659046T= | CA1628438310 | PKHD1 | c.11080A= (p.Ile3694=) c.10951A= (p.Ile3651=) c.10942A= (p.Ile3648=) c.10438A= (p.Ile3480=) c.10369A= (p.Ile3457=) c.10157-9826A= (n.10157-9826A=) c.5155A= (p.Ile1719=) n.535+6673T= n.403+6673T= c.11005A= (p.Ile3669=) c.10885A= (p.Ile3629=) c.10816A= (p.Ile3606=) c.9220A= (p.Ile3074=) n.11356A= n.3145+6673T= n.3013+6673T= | |
6 | g.51659047G>A | CA450612663 | PKHD1 | c.11079C>T (p.Val3693=) c.10950C>T (p.Val3650=) c.10941C>T (p.Val3647=) c.10437C>T (p.Val3479=) c.10368C>T (p.Val3456=) c.10157-9827C>T (n.10157-9827C>T) c.5154C>T (p.Val1718=) n.535+6674G>A n.403+6674G>A c.11004C>T (p.Val3668=) c.10884C>T (p.Val3628=) c.10815C>T (p.Val3605=) c.9219C>T (p.Val3073=) n.11355C>T n.3145+6674G>A n.3013+6674G>A | |
6 | g.51659047G>C | CA450612664 | PKHD1 | c.11079C>G (p.Val3693=) c.10950C>G (p.Val3650=) c.10941C>G (p.Val3647=) c.10437C>G (p.Val3479=) c.10368C>G (p.Val3456=) c.10157-9827C>G (n.10157-9827C>G) c.5154C>G (p.Val1718=) n.535+6674G>C n.403+6674G>C c.11004C>G (p.Val3668=) c.10884C>G (p.Val3628=) c.10815C>G (p.Val3605=) c.9219C>G (p.Val3073=) n.11355C>G n.3145+6674G>C n.3013+6674G>C | |
6 | g.51659047G= | CA1628438312 | PKHD1 | c.11079C= (p.Val3693=) c.10950C= (p.Val3650=) c.10941C= (p.Val3647=) c.10437C= (p.Val3479=) c.10368C= (p.Val3456=) c.10157-9827C= (n.10157-9827C=) c.5154C= (p.Val1718=) n.535+6674G= n.403+6674G= c.11004C= (p.Val3668=) c.10884C= (p.Val3628=) c.10815C= (p.Val3605=) c.9219C= (p.Val3073=) n.11355C= n.3145+6674G= n.3013+6674G= | |
6 | g.51659047G>T | CA450612665 | PKHD1 | c.11079C>A (p.Val3693=) c.10950C>A (p.Val3650=) c.10941C>A (p.Val3647=) c.10437C>A (p.Val3479=) c.10368C>A (p.Val3456=) c.10157-9827C>A (n.10157-9827C>A) c.5154C>A (p.Val1718=) n.535+6674G>T n.403+6674G>T c.11004C>A (p.Val3668=) c.10884C>A (p.Val3628=) c.10815C>A (p.Val3605=) c.9219C>A (p.Val3073=) n.11355C>A n.3145+6674G>T n.3013+6674G>T | dbSNP gnomAD v2 |
6 | g.51659048A= | CA1628438315 | PKHD1 | c.11078T= (p.Val3693=) c.10949T= (p.Val3650=) c.10940T= (p.Val3647=) c.10436T= (p.Val3479=) c.10367T= (p.Val3456=) c.10157-9828T= (n.10157-9828T=) c.5153T= (p.Val1718=) n.535+6675A= n.403+6675A= c.11003T= (p.Val3668=) c.10883T= (p.Val3628=) c.10814T= (p.Val3605=) c.9218T= (p.Val3073=) n.11354T= n.3145+6675A= n.3013+6675A= | |
6 | g.51659048A>C | CA364430170 | PKHD1 | c.11078T>G (p.Val3693Gly) c.10949T>G (p.Val3650Gly) c.10940T>G (p.Val3647Gly) c.10436T>G (p.Val3479Gly) c.10367T>G (p.Val3456Gly) c.10157-9828T>G (n.10157-9828T>G) c.5153T>G (p.Val1718Gly) n.535+6675A>C n.403+6675A>C c.11003T>G (p.Val3668Gly) c.10883T>G (p.Val3628Gly) c.10814T>G (p.Val3605Gly) c.9218T>G (p.Val3073Gly) n.11354T>G n.3145+6675A>C n.3013+6675A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51659048A>G | CA364430175 | PKHD1 | c.11078T>C (p.Val3693Ala) c.10949T>C (p.Val3650Ala) c.10940T>C (p.Val3647Ala) c.10436T>C (p.Val3479Ala) c.10367T>C (p.Val3456Ala) c.10157-9828T>C (n.10157-9828T>C) c.5153T>C (p.Val1718Ala) n.535+6675A>G n.403+6675A>G c.11003T>C (p.Val3668Ala) c.10883T>C (p.Val3628Ala) c.10814T>C (p.Val3605Ala) c.9218T>C (p.Val3073Ala) n.11354T>C n.3145+6675A>G n.3013+6675A>G | |
6 | g.51659048A>T | CA364430176 | PKHD1 | c.11078T>A (p.Val3693Asp) c.10949T>A (p.Val3650Asp) c.10940T>A (p.Val3647Asp) c.10436T>A (p.Val3479Asp) c.10367T>A (p.Val3456Asp) c.10157-9828T>A (n.10157-9828T>A) c.5153T>A (p.Val1718Asp) n.535+6675A>T n.403+6675A>T c.11003T>A (p.Val3668Asp) c.10883T>A (p.Val3628Asp) c.10814T>A (p.Val3605Asp) c.9218T>A (p.Val3073Asp) n.11354T>A n.3145+6675A>T n.3013+6675A>T | |
6 | g.51659049C>A | CA364430180 | PKHD1 | c.11077G>T (p.Val3693Phe) c.10948G>T (p.Val3650Phe) c.10939G>T (p.Val3647Phe) c.10435G>T (p.Val3479Phe) c.10366G>T (p.Val3456Phe) c.10157-9829G>T (n.10157-9829G>T) c.5152G>T (p.Val1718Phe) n.535+6676C>A n.403+6676C>A c.11002G>T (p.Val3668Phe) c.10882G>T (p.Val3628Phe) c.10813G>T (p.Val3605Phe) c.9217G>T (p.Val3073Phe) n.11353G>T n.3145+6676C>A n.3013+6676C>A | |
6 | g.51659049C= | CA1628438317 | PKHD1 | c.11077G= (p.Val3693=) c.10948G= (p.Val3650=) c.10939G= (p.Val3647=) c.10435G= (p.Val3479=) c.10366G= (p.Val3456=) c.10157-9829G= (n.10157-9829G=) c.5152G= (p.Val1718=) n.535+6676C= n.403+6676C= c.11002G= (p.Val3668=) c.10882G= (p.Val3628=) c.10813G= (p.Val3605=) c.9217G= (p.Val3073=) n.11353G= n.3145+6676C= n.3013+6676C= | |
6 | g.51659049C>G | CA364430181 | PKHD1 | c.11077G>C (p.Val3693Leu) c.10948G>C (p.Val3650Leu) c.10939G>C (p.Val3647Leu) c.10435G>C (p.Val3479Leu) c.10366G>C (p.Val3456Leu) c.10157-9829G>C (n.10157-9829G>C) c.5152G>C (p.Val1718Leu) n.535+6676C>G n.403+6676C>G c.11002G>C (p.Val3668Leu) c.10882G>C (p.Val3628Leu) c.10813G>C (p.Val3605Leu) c.9217G>C (p.Val3073Leu) n.11353G>C n.3145+6676C>G n.3013+6676C>G | |
6 | g.51659049C>T | CA3850964 | PKHD1 | c.11077G>A (p.Val3693Ile) c.10948G>A (p.Val3650Ile) c.10939G>A (p.Val3647Ile) c.10435G>A (p.Val3479Ile) c.10366G>A (p.Val3456Ile) c.10157-9829G>A (n.10157-9829G>A) c.5152G>A (p.Val1718Ile) n.535+6676C>T n.403+6676C>T c.11002G>A (p.Val3668Ile) c.10882G>A (p.Val3628Ile) c.10813G>A (p.Val3605Ile) c.9217G>A (p.Val3073Ile) n.11353G>A n.3145+6676C>T n.3013+6676C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51659050T>A | CA450612666 | PKHD1 | c.11076A>T (p.Arg3692=) c.10947A>T (p.Arg3649=) c.10938A>T (p.Arg3646=) c.10434A>T (p.Arg3478=) c.10365A>T (p.Arg3455=) c.10157-9830A>T (n.10157-9830A>T) c.5151A>T (p.Arg1717=) n.535+6677T>A n.403+6677T>A c.11001A>T (p.Arg3667=) c.10881A>T (p.Arg3627=) c.10812A>T (p.Arg3604=) c.9216A>T (p.Arg3072=) n.11352A>T n.3145+6677T>A n.3013+6677T>A | |
6 | g.51659050T>C | CA450612667 | PKHD1 | c.11076A>G (p.Arg3692=) c.10947A>G (p.Arg3649=) c.10938A>G (p.Arg3646=) c.10434A>G (p.Arg3478=) c.10365A>G (p.Arg3455=) c.10157-9830A>G (n.10157-9830A>G) c.5151A>G (p.Arg1717=) n.535+6677T>C n.403+6677T>C c.11001A>G (p.Arg3667=) c.10881A>G (p.Arg3627=) c.10812A>G (p.Arg3604=) c.9216A>G (p.Arg3072=) n.11352A>G n.3145+6677T>C n.3013+6677T>C | |
6 | g.51659050T>G | CA450612668 | PKHD1 | c.11076A>C (p.Arg3692=) c.10947A>C (p.Arg3649=) c.10938A>C (p.Arg3646=) c.10434A>C (p.Arg3478=) c.10365A>C (p.Arg3455=) c.10157-9830A>C (n.10157-9830A>C) c.5151A>C (p.Arg1717=) n.535+6677T>G n.403+6677T>G c.11001A>C (p.Arg3667=) c.10881A>C (p.Arg3627=) c.10812A>C (p.Arg3604=) c.9216A>C (p.Arg3072=) n.11352A>C n.3145+6677T>G n.3013+6677T>G | |
6 | g.51659051C>A | CA364430182 | PKHD1 | c.11075G>T (p.Arg3692Leu) c.10946G>T (p.Arg3649Leu) c.10937G>T (p.Arg3646Leu) c.10433G>T (p.Arg3478Leu) c.10364G>T (p.Arg3455Leu) c.10157-9831G>T (n.10157-9831G>T) c.5150G>T (p.Arg1717Leu) n.535+6678C>A n.403+6678C>A c.11000G>T (p.Arg3667Leu) c.10880G>T (p.Arg3627Leu) c.10811G>T (p.Arg3604Leu) c.9215G>T (p.Arg3072Leu) n.11351G>T n.3145+6678C>A n.3013+6678C>A | gnomAD v4 |
6 | g.51659051C= | CA1628438321 | PKHD1 | c.11075G= (p.Arg3692=) c.10946G= (p.Arg3649=) c.10937G= (p.Arg3646=) c.10433G= (p.Arg3478=) c.10364G= (p.Arg3455=) c.10157-9831G= (n.10157-9831G=) c.5150G= (p.Arg1717=) n.535+6678C= n.403+6678C= c.11000G= (p.Arg3667=) c.10880G= (p.Arg3627=) c.10811G= (p.Arg3604=) c.9215G= (p.Arg3072=) n.11351G= n.3145+6678C= n.3013+6678C= | |
6 | g.51659051C>G | CA364430184 | PKHD1 | c.11075G>C (p.Arg3692Pro) c.10946G>C (p.Arg3649Pro) c.10937G>C (p.Arg3646Pro) c.10433G>C (p.Arg3478Pro) c.10364G>C (p.Arg3455Pro) c.10157-9831G>C (n.10157-9831G>C) c.5150G>C (p.Arg1717Pro) n.535+6678C>G n.403+6678C>G c.11000G>C (p.Arg3667Pro) c.10880G>C (p.Arg3627Pro) c.10811G>C (p.Arg3604Pro) c.9215G>C (p.Arg3072Pro) n.11351G>C n.3145+6678C>G n.3013+6678C>G | |
6 | g.51659051C>T | CA3850965 | PKHD1 | c.11075G>A (p.Arg3692Gln) c.10946G>A (p.Arg3649Gln) c.10937G>A (p.Arg3646Gln) c.10433G>A (p.Arg3478Gln) c.10364G>A (p.Arg3455Gln) c.10157-9831G>A (n.10157-9831G>A) c.5150G>A (p.Arg1717Gln) n.535+6678C>T n.403+6678C>T c.11000G>A (p.Arg3667Gln) c.10880G>A (p.Arg3627Gln) c.10811G>A (p.Arg3604Gln) c.9215G>A (p.Arg3072Gln) n.11351G>A n.3145+6678C>T n.3013+6678C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.51659052G>A | CA501157 | PKHD1 | c.11074C>T (p.Arg3692Ter) c.10945C>T (p.Arg3649Ter) c.10936C>T (p.Arg3646Ter) c.10432C>T (p.Arg3478Ter) c.10363C>T (p.Arg3455Ter) c.10157-9832C>T (n.10157-9832C>T) c.5149C>T (p.Arg1717Ter) n.535+6679G>A n.403+6679G>A c.10999C>T (p.Arg3667Ter) c.10879C>T (p.Arg3627Ter) c.10810C>T (p.Arg3604Ter) c.9214C>T (p.Arg3072Ter) n.11350C>T n.3145+6679G>A n.3013+6679G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51659052G>C | CA364430196 | PKHD1 | c.11074C>G (p.Arg3692Gly) c.10945C>G (p.Arg3649Gly) c.10936C>G (p.Arg3646Gly) c.10432C>G (p.Arg3478Gly) c.10363C>G (p.Arg3455Gly) c.10157-9832C>G (n.10157-9832C>G) c.5149C>G (p.Arg1717Gly) n.535+6679G>C n.403+6679G>C c.10999C>G (p.Arg3667Gly) c.10879C>G (p.Arg3627Gly) c.10810C>G (p.Arg3604Gly) c.9214C>G (p.Arg3072Gly) n.11350C>G n.3145+6679G>C n.3013+6679G>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51659052G= | CA1628438327 | PKHD1 | c.11074C= (p.Arg3692=) c.10945C= (p.Arg3649=) c.10936C= (p.Arg3646=) c.10432C= (p.Arg3478=) c.10363C= (p.Arg3455=) c.10157-9832C= (n.10157-9832C=) c.5149C= (p.Arg1717=) n.535+6679G= n.403+6679G= c.10999C= (p.Arg3667=) c.10879C= (p.Arg3627=) c.10810C= (p.Arg3604=) c.9214C= (p.Arg3072=) n.11350C= n.3145+6679G= n.3013+6679G= | |
6 | g.51659052G>T | CA450612669 | PKHD1 | c.11074C>A (p.Arg3692=) c.10945C>A (p.Arg3649=) c.10936C>A (p.Arg3646=) c.10432C>A (p.Arg3478=) c.10363C>A (p.Arg3455=) c.10157-9832C>A (n.10157-9832C>A) c.5149C>A (p.Arg1717=) n.535+6679G>T n.403+6679G>T c.10999C>A (p.Arg3667=) c.10879C>A (p.Arg3627=) c.10810C>A (p.Arg3604=) c.9214C>A (p.Arg3072=) n.11350C>A n.3145+6679G>T n.3013+6679G>T | |
6 | g.51659053A>C | CA364430198 | PKHD1 | c.11073T>G (p.His3691Gln) c.10944T>G (p.His3648Gln) c.10935T>G (p.His3645Gln) c.10431T>G (p.His3477Gln) c.10362T>G (p.His3454Gln) c.10157-9833T>G (n.10157-9833T>G) c.5148T>G (p.His1716Gln) n.535+6680A>C n.403+6680A>C c.10998T>G (p.His3666Gln) c.10878T>G (p.His3626Gln) c.10809T>G (p.His3603Gln) c.9213T>G (p.His3071Gln) n.11349T>G n.3145+6680A>C n.3013+6680A>C | |
6 | g.51659053A>G | CA450612670 | PKHD1 | c.11073T>C (p.His3691=) c.10944T>C (p.His3648=) c.10935T>C (p.His3645=) c.10431T>C (p.His3477=) c.10362T>C (p.His3454=) c.10157-9833T>C (n.10157-9833T>C) c.5148T>C (p.His1716=) n.535+6680A>G n.403+6680A>G c.10998T>C (p.His3666=) c.10878T>C (p.His3626=) c.10809T>C (p.His3603=) c.9213T>C (p.His3071=) n.11349T>C n.3145+6680A>G n.3013+6680A>G | |
6 | g.51659053A>T | CA364430201 | PKHD1 | c.11073T>A (p.His3691Gln) c.10944T>A (p.His3648Gln) c.10935T>A (p.His3645Gln) c.10431T>A (p.His3477Gln) c.10362T>A (p.His3454Gln) c.10157-9833T>A (n.10157-9833T>A) c.5148T>A (p.His1716Gln) n.535+6680A>T n.403+6680A>T c.10998T>A (p.His3666Gln) c.10878T>A (p.His3626Gln) c.10809T>A (p.His3603Gln) c.9213T>A (p.His3071Gln) n.11349T>A n.3145+6680A>T n.3013+6680A>T | |
6 | g.51659054T>A | CA364430203 | PKHD1 | c.11072A>T (p.His3691Leu) c.10943A>T (p.His3648Leu) c.10934A>T (p.His3645Leu) c.10430A>T (p.His3477Leu) c.10361A>T (p.His3454Leu) c.10157-9834A>T (n.10157-9834A>T) c.5147A>T (p.His1716Leu) n.535+6681T>A n.403+6681T>A c.10997A>T (p.His3666Leu) c.10877A>T (p.His3626Leu) c.10808A>T (p.His3603Leu) c.9212A>T (p.His3071Leu) n.11348A>T n.3145+6681T>A n.3013+6681T>A | |
6 | g.51659054T>C | CA364430205 | PKHD1 | c.11072A>G (p.His3691Arg) c.10943A>G (p.His3648Arg) c.10934A>G (p.His3645Arg) c.10430A>G (p.His3477Arg) c.10361A>G (p.His3454Arg) c.10157-9834A>G (n.10157-9834A>G) c.5147A>G (p.His1716Arg) n.535+6681T>C n.403+6681T>C c.10997A>G (p.His3666Arg) c.10877A>G (p.His3626Arg) c.10808A>G (p.His3603Arg) c.9212A>G (p.His3071Arg) n.11348A>G n.3145+6681T>C n.3013+6681T>C | gnomAD v4 |
6 | g.51659054T>G | CA364430206 | PKHD1 | c.11072A>C (p.His3691Pro) c.10943A>C (p.His3648Pro) c.10934A>C (p.His3645Pro) c.10430A>C (p.His3477Pro) c.10361A>C (p.His3454Pro) c.10157-9834A>C (n.10157-9834A>C) c.5147A>C (p.His1716Pro) n.535+6681T>G n.403+6681T>G c.10997A>C (p.His3666Pro) c.10877A>C (p.His3626Pro) c.10808A>C (p.His3603Pro) c.9212A>C (p.His3071Pro) n.11348A>C n.3145+6681T>G n.3013+6681T>G | |
6 | g.51659055G>A | CA364430208 | PKHD1 | c.11071C>T (p.His3691Tyr) c.10942C>T (p.His3648Tyr) c.10933C>T (p.His3645Tyr) c.10429C>T (p.His3477Tyr) c.10360C>T (p.His3454Tyr) c.10157-9835C>T (n.10157-9835C>T) c.5146C>T (p.His1716Tyr) n.535+6682G>A n.403+6682G>A c.10996C>T (p.His3666Tyr) c.10876C>T (p.His3626Tyr) c.10807C>T (p.His3603Tyr) c.9211C>T (p.His3071Tyr) n.11347C>T n.3145+6682G>A n.3013+6682G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51659055G>C | CA364430211 | PKHD1 | c.11071C>G (p.His3691Asp) c.10942C>G (p.His3648Asp) c.10933C>G (p.His3645Asp) c.10429C>G (p.His3477Asp) c.10360C>G (p.His3454Asp) c.10157-9835C>G (n.10157-9835C>G) c.5146C>G (p.His1716Asp) n.535+6682G>C n.403+6682G>C c.10996C>G (p.His3666Asp) c.10876C>G (p.His3626Asp) c.10807C>G (p.His3603Asp) c.9211C>G (p.His3071Asp) n.11347C>G n.3145+6682G>C n.3013+6682G>C | dbSNP |
6 | g.51659055G= | CA1628438333 | PKHD1 | c.11071C= (p.His3691=) c.10942C= (p.His3648=) c.10933C= (p.His3645=) c.10429C= (p.His3477=) c.10360C= (p.His3454=) c.10157-9835C= (n.10157-9835C=) c.5146C= (p.His1716=) n.535+6682G= n.403+6682G= c.10996C= (p.His3666=) c.10876C= (p.His3626=) c.10807C= (p.His3603=) c.9211C= (p.His3071=) n.11347C= n.3145+6682G= n.3013+6682G= | |
6 | g.51659055G>T | CA364430214 | PKHD1 | c.11071C>A (p.His3691Asn) c.10942C>A (p.His3648Asn) c.10933C>A (p.His3645Asn) c.10429C>A (p.His3477Asn) c.10360C>A (p.His3454Asn) c.10157-9835C>A (n.10157-9835C>A) c.5146C>A (p.His1716Asn) n.535+6682G>T n.403+6682G>T c.10996C>A (p.His3666Asn) c.10876C>A (p.His3626Asn) c.10807C>A (p.His3603Asn) c.9211C>A (p.His3071Asn) n.11347C>A n.3145+6682G>T n.3013+6682G>T | |
6 | g.51659056A>C | CA450612671 | PKHD1 | c.11070T>G (p.Ala3690=) c.10941T>G (p.Ala3647=) c.10932T>G (p.Ala3644=) c.10428T>G (p.Ala3476=) c.10359T>G (p.Ala3453=) c.10157-9836T>G (n.10157-9836T>G) c.5145T>G (p.Ala1715=) n.535+6683A>C n.403+6683A>C c.10995T>G (p.Ala3665=) c.10875T>G (p.Ala3625=) c.10806T>G (p.Ala3602=) c.9210T>G (p.Ala3070=) n.11346T>G n.3145+6683A>C n.3013+6683A>C | |
6 | g.51659056A>G | CA450612672 | PKHD1 | c.11070T>C (p.Ala3690=) c.10941T>C (p.Ala3647=) c.10932T>C (p.Ala3644=) c.10428T>C (p.Ala3476=) c.10359T>C (p.Ala3453=) c.10157-9836T>C (n.10157-9836T>C) c.5145T>C (p.Ala1715=) n.535+6683A>G n.403+6683A>G c.10995T>C (p.Ala3665=) c.10875T>C (p.Ala3625=) c.10806T>C (p.Ala3602=) c.9210T>C (p.Ala3070=) n.11346T>C n.3145+6683A>G n.3013+6683A>G | |
6 | g.51659056A>T | CA450612673 | PKHD1 | c.11070T>A (p.Ala3690=) c.10941T>A (p.Ala3647=) c.10932T>A (p.Ala3644=) c.10428T>A (p.Ala3476=) c.10359T>A (p.Ala3453=) c.10157-9836T>A (n.10157-9836T>A) c.5145T>A (p.Ala1715=) n.535+6683A>T n.403+6683A>T c.10995T>A (p.Ala3665=) c.10875T>A (p.Ala3625=) c.10806T>A (p.Ala3602=) c.9210T>A (p.Ala3070=) n.11346T>A n.3145+6683A>T n.3013+6683A>T | |
6 | g.51659057G>A | CA364430215 | PKHD1 | c.11069C>T (p.Ala3690Val) c.10940C>T (p.Ala3647Val) c.10931C>T (p.Ala3644Val) c.10427C>T (p.Ala3476Val) c.10358C>T (p.Ala3453Val) c.10157-9837C>T (n.10157-9837C>T) c.5144C>T (p.Ala1715Val) n.535+6684G>A n.403+6684G>A c.10994C>T (p.Ala3665Val) c.10874C>T (p.Ala3625Val) c.10805C>T (p.Ala3602Val) c.9209C>T (p.Ala3070Val) n.11345C>T n.3145+6684G>A n.3013+6684G>A | dbSNP |
6 | g.51659057G>C | CA364430216 | PKHD1 | c.11069C>G (p.Ala3690Gly) c.10940C>G (p.Ala3647Gly) c.10931C>G (p.Ala3644Gly) c.10427C>G (p.Ala3476Gly) c.10358C>G (p.Ala3453Gly) c.10157-9837C>G (n.10157-9837C>G) c.5144C>G (p.Ala1715Gly) n.535+6684G>C n.403+6684G>C c.10994C>G (p.Ala3665Gly) c.10874C>G (p.Ala3625Gly) c.10805C>G (p.Ala3602Gly) c.9209C>G (p.Ala3070Gly) n.11345C>G n.3145+6684G>C n.3013+6684G>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51659057G= | CA1628438336 | PKHD1 | c.11069C= (p.Ala3690=) c.10940C= (p.Ala3647=) c.10931C= (p.Ala3644=) c.10427C= (p.Ala3476=) c.10358C= (p.Ala3453=) c.10157-9837C= (n.10157-9837C=) c.5144C= (p.Ala1715=) n.535+6684G= n.403+6684G= c.10994C= (p.Ala3665=) c.10874C= (p.Ala3625=) c.10805C= (p.Ala3602=) c.9209C= (p.Ala3070=) n.11345C= n.3145+6684G= n.3013+6684G= | |
6 | g.51659057G>T | CA364430217 | PKHD1 | c.11069C>A (p.Ala3690Asp) c.10940C>A (p.Ala3647Asp) c.10931C>A (p.Ala3644Asp) c.10427C>A (p.Ala3476Asp) c.10358C>A (p.Ala3453Asp) c.10157-9837C>A (n.10157-9837C>A) c.5144C>A (p.Ala1715Asp) n.535+6684G>T n.403+6684G>T c.10994C>A (p.Ala3665Asp) c.10874C>A (p.Ala3625Asp) c.10805C>A (p.Ala3602Asp) c.9209C>A (p.Ala3070Asp) n.11345C>A n.3145+6684G>T n.3013+6684G>T | |
6 | g.51659058C>A | CA364430219 | PKHD1 | c.11068G>T (p.Ala3690Ser) c.10939G>T (p.Ala3647Ser) c.10930G>T (p.Ala3644Ser) c.10426G>T (p.Ala3476Ser) c.10357G>T (p.Ala3453Ser) c.10157-9838G>T (n.10157-9838G>T) c.5143G>T (p.Ala1715Ser) n.535+6685C>A n.403+6685C>A c.10993G>T (p.Ala3665Ser) c.10873G>T (p.Ala3625Ser) c.10804G>T (p.Ala3602Ser) c.9208G>T (p.Ala3070Ser) n.11344G>T n.3145+6685C>A n.3013+6685C>A | ClinVar |
6 | g.51659058C>G | CA364430221 | PKHD1 | c.11068G>C (p.Ala3690Pro) c.10939G>C (p.Ala3647Pro) c.10930G>C (p.Ala3644Pro) c.10426G>C (p.Ala3476Pro) c.10357G>C (p.Ala3453Pro) c.10157-9838G>C (n.10157-9838G>C) c.5143G>C (p.Ala1715Pro) n.535+6685C>G n.403+6685C>G c.10993G>C (p.Ala3665Pro) c.10873G>C (p.Ala3625Pro) c.10804G>C (p.Ala3602Pro) c.9208G>C (p.Ala3070Pro) n.11344G>C n.3145+6685C>G n.3013+6685C>G | |
6 | g.51659058C>T | CA364430223 | PKHD1 | c.11068G>A (p.Ala3690Thr) c.10939G>A (p.Ala3647Thr) c.10930G>A (p.Ala3644Thr) c.10426G>A (p.Ala3476Thr) c.10357G>A (p.Ala3453Thr) c.10157-9838G>A (n.10157-9838G>A) c.5143G>A (p.Ala1715Thr) n.535+6685C>T n.403+6685C>T c.10993G>A (p.Ala3665Thr) c.10873G>A (p.Ala3625Thr) c.10804G>A (p.Ala3602Thr) c.9208G>A (p.Ala3070Thr) n.11344G>A n.3145+6685C>T n.3013+6685C>T | |
6 | g.51659059del | CA2578644499 | PKHD1 | c.11068del (p.Ala3690LeufsTer13) c.10939del (p.Ala3647LeufsTer13) c.10930del (p.Ala3644LeufsTer13) c.10426del (p.Ala3476LeufsTer13) c.10357del (p.Ala3453LeufsTer13) c.10157-9838del (n.10157-9838del) c.5143del (p.Ala1715LeufsTer13) n.535+6686del n.403+6686del c.10993del (p.Ala3665LeufsTer13) c.10873del (p.Ala3625LeufsTer13) c.10804del (p.Ala3602LeufsTer13) c.9208del (p.Ala3070LeufsTer13) n.11344del n.3145+6686del n.3013+6686del | gnomAD v4 |
6 | g.51659059C>A | CA364430226 | PKHD1 | c.11067G>T (p.Leu3689Phe) c.10938G>T (p.Leu3646Phe) c.10929G>T (p.Leu3643Phe) c.10425G>T (p.Leu3475Phe) c.10356G>T (p.Leu3452Phe) c.10157-9839G>T (n.10157-9839G>T) c.5142G>T (p.Leu1714Phe) n.535+6686C>A n.403+6686C>A c.10992G>T (p.Leu3664Phe) c.10872G>T (p.Leu3624Phe) c.10803G>T (p.Leu3601Phe) c.9207G>T (p.Leu3069Phe) n.11343G>T n.3145+6686C>A n.3013+6686C>A | |
6 | g.51659059C= | CA1628438339 | PKHD1 | c.11067G= (p.Leu3689=) c.10938G= (p.Leu3646=) c.10929G= (p.Leu3643=) c.10425G= (p.Leu3475=) c.10356G= (p.Leu3452=) c.10157-9839G= (n.10157-9839G=) c.5142G= (p.Leu1714=) n.535+6686C= n.403+6686C= c.10992G= (p.Leu3664=) c.10872G= (p.Leu3624=) c.10803G= (p.Leu3601=) c.9207G= (p.Leu3069=) n.11343G= n.3145+6686C= n.3013+6686C= | |
6 | g.51659059C>G | CA364430231 | PKHD1 | c.11067G>C (p.Leu3689Phe) c.10938G>C (p.Leu3646Phe) c.10929G>C (p.Leu3643Phe) c.10425G>C (p.Leu3475Phe) c.10356G>C (p.Leu3452Phe) c.10157-9839G>C (n.10157-9839G>C) c.5142G>C (p.Leu1714Phe) n.535+6686C>G n.403+6686C>G c.10992G>C (p.Leu3664Phe) c.10872G>C (p.Leu3624Phe) c.10803G>C (p.Leu3601Phe) c.9207G>C (p.Leu3069Phe) n.11343G>C n.3145+6686C>G n.3013+6686C>G | |
6 | g.51659059C>T | CA3850966 | PKHD1 | c.11067G>A (p.Leu3689=) c.10938G>A (p.Leu3646=) c.10929G>A (p.Leu3643=) c.10425G>A (p.Leu3475=) c.10356G>A (p.Leu3452=) c.10157-9839G>A (n.10157-9839G>A) c.5142G>A (p.Leu1714=) n.535+6686C>T n.403+6686C>T c.10992G>A (p.Leu3664=) c.10872G>A (p.Leu3624=) c.10803G>A (p.Leu3601=) c.9207G>A (p.Leu3069=) n.11343G>A n.3145+6686C>T n.3013+6686C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51659060A>C | CA364430234 | PKHD1 | c.11066T>G (p.Leu3689Trp) c.10937T>G (p.Leu3646Trp) c.10928T>G (p.Leu3643Trp) c.10424T>G (p.Leu3475Trp) c.10355T>G (p.Leu3452Trp) c.10157-9840T>G (n.10157-9840T>G) c.5141T>G (p.Leu1714Trp) n.535+6687A>C n.403+6687A>C c.10991T>G (p.Leu3664Trp) c.10871T>G (p.Leu3624Trp) c.10802T>G (p.Leu3601Trp) c.9206T>G (p.Leu3069Trp) n.11342T>G n.3145+6687A>C n.3013+6687A>C | |
6 | g.51659060A>G | CA364430240 | PKHD1 | c.11066T>C (p.Leu3689Ser) c.10937T>C (p.Leu3646Ser) c.10928T>C (p.Leu3643Ser) c.10424T>C (p.Leu3475Ser) c.10355T>C (p.Leu3452Ser) c.10157-9840T>C (n.10157-9840T>C) c.5141T>C (p.Leu1714Ser) n.535+6687A>G n.403+6687A>G c.10991T>C (p.Leu3664Ser) c.10871T>C (p.Leu3624Ser) c.10802T>C (p.Leu3601Ser) c.9206T>C (p.Leu3069Ser) n.11342T>C n.3145+6687A>G n.3013+6687A>G | |
6 | g.51659060A>T | CA364430238 | PKHD1 | c.11066T>A (p.Leu3689Ter) c.10937T>A (p.Leu3646Ter) c.10928T>A (p.Leu3643Ter) c.10424T>A (p.Leu3475Ter) c.10355T>A (p.Leu3452Ter) c.10157-9840T>A (n.10157-9840T>A) c.5141T>A (p.Leu1714Ter) n.535+6687A>T n.403+6687A>T c.10991T>A (p.Leu3664Ter) c.10871T>A (p.Leu3624Ter) c.10802T>A (p.Leu3601Ter) c.9206T>A (p.Leu3069Ter) n.11342T>A n.3145+6687A>T n.3013+6687A>T | COSMIC |
6 | g.51659062del | CA2771047561 | PKHD1 | c.11066del (p.Leu3689TrpfsTer14) c.10937del (p.Leu3646TrpfsTer14) c.10928del (p.Leu3643TrpfsTer14) c.10424del (p.Leu3475TrpfsTer14) c.10355del (p.Leu3452TrpfsTer14) c.10157-9840del (n.10157-9840del) c.5141del (p.Leu1714TrpfsTer14) n.535+6689del n.403+6689del c.10991del (p.Leu3664TrpfsTer14) c.10871del (p.Leu3624TrpfsTer14) c.10802del (p.Leu3601TrpfsTer14) c.9206del (p.Leu3069TrpfsTer14) n.11342del n.3145+6689del n.3013+6689del | |
6 | g.51659061A>C | CA364430242 | PKHD1 | c.11065T>G (p.Leu3689Val) c.10936T>G (p.Leu3646Val) c.10927T>G (p.Leu3643Val) c.10423T>G (p.Leu3475Val) c.10354T>G (p.Leu3452Val) c.10157-9841T>G (n.10157-9841T>G) c.5140T>G (p.Leu1714Val) n.535+6688A>C n.403+6688A>C c.10990T>G (p.Leu3664Val) c.10870T>G (p.Leu3624Val) c.10801T>G (p.Leu3601Val) c.9205T>G (p.Leu3069Val) n.11341T>G n.3145+6688A>C n.3013+6688A>C | gnomAD v4 |
6 | g.51659061A>G | CA450612674 | PKHD1 | c.11065T>C (p.Leu3689=) c.10936T>C (p.Leu3646=) c.10927T>C (p.Leu3643=) c.10423T>C (p.Leu3475=) c.10354T>C (p.Leu3452=) c.10157-9841T>C (n.10157-9841T>C) c.5140T>C (p.Leu1714=) n.535+6688A>G n.403+6688A>G c.10990T>C (p.Leu3664=) c.10870T>C (p.Leu3624=) c.10801T>C (p.Leu3601=) c.9205T>C (p.Leu3069=) n.11341T>C n.3145+6688A>G n.3013+6688A>G | |
6 | g.51659061A>T | CA364430244 | PKHD1 | c.11065T>A (p.Leu3689Met) c.10936T>A (p.Leu3646Met) c.10927T>A (p.Leu3643Met) c.10423T>A (p.Leu3475Met) c.10354T>A (p.Leu3452Met) c.10157-9841T>A (n.10157-9841T>A) c.5140T>A (p.Leu1714Met) n.535+6688A>T n.403+6688A>T c.10990T>A (p.Leu3664Met) c.10870T>A (p.Leu3624Met) c.10801T>A (p.Leu3601Met) c.9205T>A (p.Leu3069Met) n.11341T>A n.3145+6688A>T n.3013+6688A>T | |
6 | g.51659062A>C | CA364430248 | PKHD1 | c.11064T>G (p.Asn3688Lys) c.10935T>G (p.Asn3645Lys) c.10926T>G (p.Asn3642Lys) c.10422T>G (p.Asn3474Lys) c.10353T>G (p.Asn3451Lys) c.10157-9842T>G (n.10157-9842T>G) c.5139T>G (p.Asn1713Lys) n.535+6689A>C n.403+6689A>C c.10989T>G (p.Asn3663Lys) c.10869T>G (p.Asn3623Lys) c.10800T>G (p.Asn3600Lys) c.9204T>G (p.Asn3068Lys) n.11340T>G n.3145+6689A>C n.3013+6689A>C | |
6 | g.51659062A>G | CA450612675 | PKHD1 | c.11064T>C (p.Asn3688=) c.10935T>C (p.Asn3645=) c.10926T>C (p.Asn3642=) c.10422T>C (p.Asn3474=) c.10353T>C (p.Asn3451=) c.10157-9842T>C (n.10157-9842T>C) c.5139T>C (p.Asn1713=) n.535+6689A>G n.403+6689A>G c.10989T>C (p.Asn3663=) c.10869T>C (p.Asn3623=) c.10800T>C (p.Asn3600=) c.9204T>C (p.Asn3068=) n.11340T>C n.3145+6689A>G n.3013+6689A>G | gnomAD v4 |
6 | g.51659062A>T | CA364430250 | PKHD1 | c.11064T>A (p.Asn3688Lys) c.10935T>A (p.Asn3645Lys) c.10926T>A (p.Asn3642Lys) c.10422T>A (p.Asn3474Lys) c.10353T>A (p.Asn3451Lys) c.10157-9842T>A (n.10157-9842T>A) c.5139T>A (p.Asn1713Lys) n.535+6689A>T n.403+6689A>T c.10989T>A (p.Asn3663Lys) c.10869T>A (p.Asn3623Lys) c.10800T>A (p.Asn3600Lys) c.9204T>A (p.Asn3068Lys) n.11340T>A n.3145+6689A>T n.3013+6689A>T | |
6 | g.51659063T>A | CA364430252 | PKHD1 | c.11063A>T (p.Asn3688Ile) c.10934A>T (p.Asn3645Ile) c.10925A>T (p.Asn3642Ile) c.10421A>T (p.Asn3474Ile) c.10352A>T (p.Asn3451Ile) c.10157-9843A>T (n.10157-9843A>T) c.5138A>T (p.Asn1713Ile) n.535+6690T>A n.403+6690T>A c.10988A>T (p.Asn3663Ile) c.10868A>T (p.Asn3623Ile) c.10799A>T (p.Asn3600Ile) c.9203A>T (p.Asn3068Ile) n.11339A>T n.3145+6690T>A n.3013+6690T>A | |
6 | g.51659063T>C | CA364430255 | PKHD1 | c.11063A>G (p.Asn3688Ser) c.10934A>G (p.Asn3645Ser) c.10925A>G (p.Asn3642Ser) c.10421A>G (p.Asn3474Ser) c.10352A>G (p.Asn3451Ser) c.10157-9843A>G (n.10157-9843A>G) c.5138A>G (p.Asn1713Ser) n.535+6690T>C n.403+6690T>C c.10988A>G (p.Asn3663Ser) c.10868A>G (p.Asn3623Ser) c.10799A>G (p.Asn3600Ser) c.9203A>G (p.Asn3068Ser) n.11339A>G n.3145+6690T>C n.3013+6690T>C | |
6 | g.51659063T>G | CA364430261 | PKHD1 | c.11063A>C (p.Asn3688Thr) c.10934A>C (p.Asn3645Thr) c.10925A>C (p.Asn3642Thr) c.10421A>C (p.Asn3474Thr) c.10352A>C (p.Asn3451Thr) c.10157-9843A>C (n.10157-9843A>C) c.5138A>C (p.Asn1713Thr) n.535+6690T>G n.403+6690T>G c.10988A>C (p.Asn3663Thr) c.10868A>C (p.Asn3623Thr) c.10799A>C (p.Asn3600Thr) c.9203A>C (p.Asn3068Thr) n.11339A>C n.3145+6690T>G n.3013+6690T>G | |
6 | g.51659064T>A | CA364430263 | PKHD1 | c.11062A>T (p.Asn3688Tyr) c.10933A>T (p.Asn3645Tyr) c.10924A>T (p.Asn3642Tyr) c.10420A>T (p.Asn3474Tyr) c.10351A>T (p.Asn3451Tyr) c.10157-9844A>T (n.10157-9844A>T) c.5137A>T (p.Asn1713Tyr) n.535+6691T>A n.403+6691T>A c.10987A>T (p.Asn3663Tyr) c.10867A>T (p.Asn3623Tyr) c.10798A>T (p.Asn3600Tyr) c.9202A>T (p.Asn3068Tyr) n.11338A>T n.3145+6691T>A n.3013+6691T>A | |
6 | g.51659064T>C | CA364430264 | PKHD1 | c.11062A>G (p.Asn3688Asp) c.10933A>G (p.Asn3645Asp) c.10924A>G (p.Asn3642Asp) c.10420A>G (p.Asn3474Asp) c.10351A>G (p.Asn3451Asp) c.10157-9844A>G (n.10157-9844A>G) c.5137A>G (p.Asn1713Asp) n.535+6691T>C n.403+6691T>C c.10987A>G (p.Asn3663Asp) c.10867A>G (p.Asn3623Asp) c.10798A>G (p.Asn3600Asp) c.9202A>G (p.Asn3068Asp) n.11338A>G n.3145+6691T>C n.3013+6691T>C | |
6 | g.51659064T>G | CA364430266 | PKHD1 | c.11062A>C (p.Asn3688His) c.10933A>C (p.Asn3645His) c.10924A>C (p.Asn3642His) c.10420A>C (p.Asn3474His) c.10351A>C (p.Asn3451His) c.10157-9844A>C (n.10157-9844A>C) c.5137A>C (p.Asn1713His) n.535+6691T>G n.403+6691T>G c.10987A>C (p.Asn3663His) c.10867A>C (p.Asn3623His) c.10798A>C (p.Asn3600His) c.9202A>C (p.Asn3068His) n.11338A>C n.3145+6691T>G n.3013+6691T>G | |
6 | g.51659065C>A | CA364430269 | PKHD1 | c.11061G>T (p.Gln3687His) c.10932G>T (p.Gln3644His) c.10923G>T (p.Gln3641His) c.10419G>T (p.Gln3473His) c.10350G>T (p.Gln3450His) c.10157-9845G>T (n.10157-9845G>T) c.5136G>T (p.Gln1712His) n.535+6692C>A n.403+6692C>A c.10986G>T (p.Gln3662His) c.10866G>T (p.Gln3622His) c.10797G>T (p.Gln3599His) c.9201G>T (p.Gln3067His) n.11337G>T n.3145+6692C>A n.3013+6692C>A | |
6 | g.51659065C>G | CA364430270 | PKHD1 | c.11061G>C (p.Gln3687His) c.10932G>C (p.Gln3644His) c.10923G>C (p.Gln3641His) c.10419G>C (p.Gln3473His) c.10350G>C (p.Gln3450His) c.10157-9845G>C (n.10157-9845G>C) c.5136G>C (p.Gln1712His) n.535+6692C>G n.403+6692C>G c.10986G>C (p.Gln3662His) c.10866G>C (p.Gln3622His) c.10797G>C (p.Gln3599His) c.9201G>C (p.Gln3067His) n.11337G>C n.3145+6692C>G n.3013+6692C>G | |
6 | g.51659065C>T | CA450612676 | PKHD1 | c.11061G>A (p.Gln3687=) c.10932G>A (p.Gln3644=) c.10923G>A (p.Gln3641=) c.10419G>A (p.Gln3473=) c.10350G>A (p.Gln3450=) c.10157-9845G>A (n.10157-9845G>A) c.5136G>A (p.Gln1712=) n.535+6692C>T n.403+6692C>T c.10986G>A (p.Gln3662=) c.10866G>A (p.Gln3622=) c.10797G>A (p.Gln3599=) c.9201G>A (p.Gln3067=) n.11337G>A n.3145+6692C>T n.3013+6692C>T | |
6 | g.51659066T>A | CA364430271 | PKHD1 | c.11060A>T (p.Gln3687Leu) c.10931A>T (p.Gln3644Leu) c.10922A>T (p.Gln3641Leu) c.10418A>T (p.Gln3473Leu) c.10349A>T (p.Gln3450Leu) c.10157-9846A>T (n.10157-9846A>T) c.5135A>T (p.Gln1712Leu) n.535+6693T>A n.403+6693T>A c.10985A>T (p.Gln3662Leu) c.10865A>T (p.Gln3622Leu) c.10796A>T (p.Gln3599Leu) c.9200A>T (p.Gln3067Leu) n.11336A>T n.3145+6693T>A n.3013+6693T>A | |
6 | g.51659066T>C | CA364430273 | PKHD1 | c.11060A>G (p.Gln3687Arg) c.10931A>G (p.Gln3644Arg) c.10922A>G (p.Gln3641Arg) c.10418A>G (p.Gln3473Arg) c.10349A>G (p.Gln3450Arg) c.10157-9846A>G (n.10157-9846A>G) c.5135A>G (p.Gln1712Arg) n.535+6693T>C n.403+6693T>C c.10985A>G (p.Gln3662Arg) c.10865A>G (p.Gln3622Arg) c.10796A>G (p.Gln3599Arg) c.9200A>G (p.Gln3067Arg) n.11336A>G n.3145+6693T>C n.3013+6693T>C | gnomAD v4 |
6 | g.51659066T>G | CA364430272 | PKHD1 | c.11060A>C (p.Gln3687Pro) c.10931A>C (p.Gln3644Pro) c.10922A>C (p.Gln3641Pro) c.10418A>C (p.Gln3473Pro) c.10349A>C (p.Gln3450Pro) c.10157-9846A>C (n.10157-9846A>C) c.5135A>C (p.Gln1712Pro) n.535+6693T>G n.403+6693T>G c.10985A>C (p.Gln3662Pro) c.10865A>C (p.Gln3622Pro) c.10796A>C (p.Gln3599Pro) c.9200A>C (p.Gln3067Pro) n.11336A>C n.3145+6693T>G n.3013+6693T>G | |
6 | g.51659066delinsAA | CA2580075413 | PKHD1 | c.11060delinsTT (p.Gln3687LeufsTer?) c.10931delinsTT (p.Gln3644LeufsTer?) c.10922delinsTT (p.Gln3641LeufsTer?) c.10418delinsTT (p.Gln3473LeufsTer?) c.10349delinsTT (p.Gln3450LeufsTer?) c.10157-9846delinsTT (n.10157-9846delinsTT) c.5135delinsTT (p.Gln1712LeufsTer?) n.535+6693delinsAA n.403+6693delinsAA c.10985delinsTT (p.Gln3662LeufsTer?) c.10865delinsTT (p.Gln3622LeufsTer?) c.10796delinsTT (p.Gln3599LeufsTer?) c.9200delinsTT (p.Gln3067LeufsTer?) n.11336delinsTT n.3145+6693delinsAA n.3013+6693delinsAA | ClinVar |