Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51748038A>CCA364420766PKHD1c.9578T>G (p.Val3193Gly)
c.9449T>G (p.Val3150Gly)
c.9440T>G (p.Val3147Gly)
c.8936T>G (p.Val2979Gly)
c.8867T>G (p.Val2956Gly)
c.3653T>G (p.Val1218Gly)
c.9503T>G (p.Val3168Gly)
c.9383T>G (p.Val3128Gly)
c.9314T>G (p.Val3105Gly)
c.7718T>G (p.Val2573Gly)
n.9854T>G
6g.51748038A>GCA364420767PKHD1c.9578T>C (p.Val3193Ala)
c.9449T>C (p.Val3150Ala)
c.9440T>C (p.Val3147Ala)
c.8936T>C (p.Val2979Ala)
c.8867T>C (p.Val2956Ala)
c.3653T>C (p.Val1218Ala)
c.9503T>C (p.Val3168Ala)
c.9383T>C (p.Val3128Ala)
c.9314T>C (p.Val3105Ala)
c.7718T>C (p.Val2573Ala)
n.9854T>C
6g.51748038A>TCA364420768PKHD1c.9578T>A (p.Val3193Asp)
c.9449T>A (p.Val3150Asp)
c.9440T>A (p.Val3147Asp)
c.8936T>A (p.Val2979Asp)
c.8867T>A (p.Val2956Asp)
c.3653T>A (p.Val1218Asp)
c.9503T>A (p.Val3168Asp)
c.9383T>A (p.Val3128Asp)
c.9314T>A (p.Val3105Asp)
c.7718T>A (p.Val2573Asp)
n.9854T>A
6g.51748039C>ACA364420770PKHD1c.9577G>T (p.Val3193Phe)
c.9448G>T (p.Val3150Phe)
c.9439G>T (p.Val3147Phe)
c.8935G>T (p.Val2979Phe)
c.8866G>T (p.Val2956Phe)
c.3652G>T (p.Val1218Phe)
c.9502G>T (p.Val3168Phe)
c.9382G>T (p.Val3128Phe)
c.9313G>T (p.Val3105Phe)
c.7717G>T (p.Val2573Phe)
n.9853G>T
6g.51748039C=CA1628502359PKHD1c.9577G= (p.Val3193=)
c.9448G= (p.Val3150=)
c.9439G= (p.Val3147=)
c.8935G= (p.Val2979=)
c.8866G= (p.Val2956=)
c.3652G= (p.Val1218=)
c.9502G= (p.Val3168=)
c.9382G= (p.Val3128=)
c.9313G= (p.Val3105=)
c.7717G= (p.Val2573=)
n.9853G=
6g.51748039C>GCA364420769PKHD1c.9577G>C (p.Val3193Leu)
c.9448G>C (p.Val3150Leu)
c.9439G>C (p.Val3147Leu)
c.8935G>C (p.Val2979Leu)
c.8866G>C (p.Val2956Leu)
c.3652G>C (p.Val1218Leu)
c.9502G>C (p.Val3168Leu)
c.9382G>C (p.Val3128Leu)
c.9313G>C (p.Val3105Leu)
c.7717G>C (p.Val2573Leu)
n.9853G>C
6g.51748039C>TCA348314PKHD1c.9577G>A (p.Val3193Ile)
c.9448G>A (p.Val3150Ile)
c.9439G>A (p.Val3147Ile)
c.8935G>A (p.Val2979Ile)
c.8866G>A (p.Val2956Ile)
c.3652G>A (p.Val1218Ile)
c.9502G>A (p.Val3168Ile)
c.9382G>A (p.Val3128Ile)
c.9313G>A (p.Val3105Ile)
c.7717G>A (p.Val2573Ile)
n.9853G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51748040G>ACA3851368PKHD1c.9576C>T (p.Ser3192=)
c.9447C>T (p.Ser3149=)
c.9438C>T (p.Ser3146=)
c.8934C>T (p.Ser2978=)
c.8865C>T (p.Ser2955=)
c.3651C>T (p.Ser1217=)
c.9501C>T (p.Ser3167=)
c.9381C>T (p.Ser3127=)
c.9312C>T (p.Ser3104=)
c.7716C>T (p.Ser2572=)
n.9852C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748040G>CCA450613736PKHD1c.9576C>G (p.Ser3192=)
c.9447C>G (p.Ser3149=)
c.9438C>G (p.Ser3146=)
c.8934C>G (p.Ser2978=)
c.8865C>G (p.Ser2955=)
c.3651C>G (p.Ser1217=)
c.9501C>G (p.Ser3167=)
c.9381C>G (p.Ser3127=)
c.9312C>G (p.Ser3104=)
c.7716C>G (p.Ser2572=)
n.9852C>G
 COSMIC
6g.51748040G=CA1628502368PKHD1c.9576C= (p.Ser3192=)
c.9447C= (p.Ser3149=)
c.9438C= (p.Ser3146=)
c.8934C= (p.Ser2978=)
c.8865C= (p.Ser2955=)
c.3651C= (p.Ser1217=)
c.9501C= (p.Ser3167=)
c.9381C= (p.Ser3127=)
c.9312C= (p.Ser3104=)
c.7716C= (p.Ser2572=)
n.9852C=
6g.51748040G>TCA450613738PKHD1c.9576C>A (p.Ser3192=)
c.9447C>A (p.Ser3149=)
c.9438C>A (p.Ser3146=)
c.8934C>A (p.Ser2978=)
c.8865C>A (p.Ser2955=)
c.3651C>A (p.Ser1217=)
c.9501C>A (p.Ser3167=)
c.9381C>A (p.Ser3127=)
c.9312C>A (p.Ser3104=)
c.7716C>A (p.Ser2572=)
n.9852C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748041dupCA2695206426PKHD1c.9576dup (p.Val3193ArgfsTer9)
c.9447dup (p.Val3150ArgfsTer9)
c.9438dup (p.Val3147ArgfsTer9)
c.8934dup (p.Val2979ArgfsTer9)
c.8865dup (p.Val2956ArgfsTer9)
c.3651dup (p.Val1218ArgfsTer9)
c.9501dup (p.Val3168ArgfsTer9)
c.9381dup (p.Val3128ArgfsTer9)
c.9312dup (p.Val3105ArgfsTer9)
c.7716dup (p.Val2573ArgfsTer9)
n.9852dup
6g.51748041G>ACA138896033PKHD1c.9575C>T (p.Ser3192Phe)
c.9446C>T (p.Ser3149Phe)
c.9437C>T (p.Ser3146Phe)
c.8933C>T (p.Ser2978Phe)
c.8864C>T (p.Ser2955Phe)
c.3650C>T (p.Ser1217Phe)
c.9500C>T (p.Ser3167Phe)
c.9380C>T (p.Ser3127Phe)
c.9311C>T (p.Ser3104Phe)
c.7715C>T (p.Ser2572Phe)
n.9851C>T
 dbSNP
6g.51748041G>CCA364420771PKHD1c.9575C>G (p.Ser3192Cys)
c.9446C>G (p.Ser3149Cys)
c.9437C>G (p.Ser3146Cys)
c.8933C>G (p.Ser2978Cys)
c.8864C>G (p.Ser2955Cys)
c.3650C>G (p.Ser1217Cys)
c.9500C>G (p.Ser3167Cys)
c.9380C>G (p.Ser3127Cys)
c.9311C>G (p.Ser3104Cys)
c.7715C>G (p.Ser2572Cys)
n.9851C>G
6g.51748041G=CA1628502376PKHD1c.9575C= (p.Ser3192=)
c.9446C= (p.Ser3149=)
c.9437C= (p.Ser3146=)
c.8933C= (p.Ser2978=)
c.8864C= (p.Ser2955=)
c.3650C= (p.Ser1217=)
c.9500C= (p.Ser3167=)
c.9380C= (p.Ser3127=)
c.9311C= (p.Ser3104=)
c.7715C= (p.Ser2572=)
n.9851C=
6g.51748041G>TCA364420772PKHD1c.9575C>A (p.Ser3192Tyr)
c.9446C>A (p.Ser3149Tyr)
c.9437C>A (p.Ser3146Tyr)
c.8933C>A (p.Ser2978Tyr)
c.8864C>A (p.Ser2955Tyr)
c.3650C>A (p.Ser1217Tyr)
c.9500C>A (p.Ser3167Tyr)
c.9380C>A (p.Ser3127Tyr)
c.9311C>A (p.Ser3104Tyr)
c.7715C>A (p.Ser2572Tyr)
n.9851C>A
 COSMIC COSMIC
6g.51748042A>CCA364420773PKHD1c.9574T>G (p.Ser3192Ala)
c.9445T>G (p.Ser3149Ala)
c.9436T>G (p.Ser3146Ala)
c.8932T>G (p.Ser2978Ala)
c.8863T>G (p.Ser2955Ala)
c.3649T>G (p.Ser1217Ala)
c.9499T>G (p.Ser3167Ala)
c.9379T>G (p.Ser3127Ala)
c.9310T>G (p.Ser3104Ala)
c.7714T>G (p.Ser2572Ala)
n.9850T>G
6g.51748042A>GCA364420774PKHD1c.9574T>C (p.Ser3192Pro)
c.9445T>C (p.Ser3149Pro)
c.9436T>C (p.Ser3146Pro)
c.8932T>C (p.Ser2978Pro)
c.8863T>C (p.Ser2955Pro)
c.3649T>C (p.Ser1217Pro)
c.9499T>C (p.Ser3167Pro)
c.9379T>C (p.Ser3127Pro)
c.9310T>C (p.Ser3104Pro)
c.7714T>C (p.Ser2572Pro)
n.9850T>C
6g.51748042A>TCA364420775PKHD1c.9574T>A (p.Ser3192Thr)
c.9445T>A (p.Ser3149Thr)
c.9436T>A (p.Ser3146Thr)
c.8932T>A (p.Ser2978Thr)
c.8863T>A (p.Ser2955Thr)
c.3649T>A (p.Ser1217Thr)
c.9499T>A (p.Ser3167Thr)
c.9379T>A (p.Ser3127Thr)
c.9310T>A (p.Ser3104Thr)
c.7714T>A (p.Ser2572Thr)
n.9850T>A
6g.51748043A>CCA364420776PKHD1c.9573T>G (p.Asn3191Lys)
c.9444T>G (p.Asn3148Lys)
c.9435T>G (p.Asn3145Lys)
c.8931T>G (p.Asn2977Lys)
c.8862T>G (p.Asn2954Lys)
c.3648T>G (p.Asn1216Lys)
c.9498T>G (p.Asn3166Lys)
c.9378T>G (p.Asn3126Lys)
c.9309T>G (p.Asn3103Lys)
c.7713T>G (p.Asn2571Lys)
n.9849T>G
6g.51748043A>GCA450613745PKHD1c.9573T>C (p.Asn3191=)
c.9444T>C (p.Asn3148=)
c.9435T>C (p.Asn3145=)
c.8931T>C (p.Asn2977=)
c.8862T>C (p.Asn2954=)
c.3648T>C (p.Asn1216=)
c.9498T>C (p.Asn3166=)
c.9378T>C (p.Asn3126=)
c.9309T>C (p.Asn3103=)
c.7713T>C (p.Asn2571=)
n.9849T>C
 dbSNP
6g.51748043A>TCA364420777PKHD1c.9573T>A (p.Asn3191Lys)
c.9444T>A (p.Asn3148Lys)
c.9435T>A (p.Asn3145Lys)
c.8931T>A (p.Asn2977Lys)
c.8862T>A (p.Asn2954Lys)
c.3648T>A (p.Asn1216Lys)
c.9498T>A (p.Asn3166Lys)
c.9378T>A (p.Asn3126Lys)
c.9309T>A (p.Asn3103Lys)
c.7713T>A (p.Asn2571Lys)
n.9849T>A
6g.51748044T>ACA364420778PKHD1c.9572A>T (p.Asn3191Ile)
c.9443A>T (p.Asn3148Ile)
c.9434A>T (p.Asn3145Ile)
c.8930A>T (p.Asn2977Ile)
c.8861A>T (p.Asn2954Ile)
c.3647A>T (p.Asn1216Ile)
c.9497A>T (p.Asn3166Ile)
c.9377A>T (p.Asn3126Ile)
c.9308A>T (p.Asn3103Ile)
c.7712A>T (p.Asn2571Ile)
n.9848A>T
6g.51748044T>CCA364420779PKHD1c.9572A>G (p.Asn3191Ser)
c.9443A>G (p.Asn3148Ser)
c.9434A>G (p.Asn3145Ser)
c.8930A>G (p.Asn2977Ser)
c.8861A>G (p.Asn2954Ser)
c.3647A>G (p.Asn1216Ser)
c.9497A>G (p.Asn3166Ser)
c.9377A>G (p.Asn3126Ser)
c.9308A>G (p.Asn3103Ser)
c.7712A>G (p.Asn2571Ser)
n.9848A>G
 dbSNP
6g.51748044T>GCA364420780PKHD1c.9572A>C (p.Asn3191Thr)
c.9443A>C (p.Asn3148Thr)
c.9434A>C (p.Asn3145Thr)
c.8930A>C (p.Asn2977Thr)
c.8861A>C (p.Asn2954Thr)
c.3647A>C (p.Asn1216Thr)
c.9497A>C (p.Asn3166Thr)
c.9377A>C (p.Asn3126Thr)
c.9308A>C (p.Asn3103Thr)
c.7712A>C (p.Asn2571Thr)
n.9848A>C
6g.51748045T>ACA364420782PKHD1c.9571A>T (p.Asn3191Tyr)
c.9442A>T (p.Asn3148Tyr)
c.9433A>T (p.Asn3145Tyr)
c.8929A>T (p.Asn2977Tyr)
c.8860A>T (p.Asn2954Tyr)
c.3646A>T (p.Asn1216Tyr)
c.9496A>T (p.Asn3166Tyr)
c.9376A>T (p.Asn3126Tyr)
c.9307A>T (p.Asn3103Tyr)
c.7711A>T (p.Asn2571Tyr)
n.9847A>T
6g.51748045T>CCA364420781PKHD1c.9571A>G (p.Asn3191Asp)
c.9442A>G (p.Asn3148Asp)
c.9433A>G (p.Asn3145Asp)
c.8929A>G (p.Asn2977Asp)
c.8860A>G (p.Asn2954Asp)
c.3646A>G (p.Asn1216Asp)
c.9496A>G (p.Asn3166Asp)
c.9376A>G (p.Asn3126Asp)
c.9307A>G (p.Asn3103Asp)
c.7711A>G (p.Asn2571Asp)
n.9847A>G
6g.51748045T>GCA3851369PKHD1c.9571A>C (p.Asn3191His)
c.9442A>C (p.Asn3148His)
c.9433A>C (p.Asn3145His)
c.8929A>C (p.Asn2977His)
c.8860A>C (p.Asn2954His)
c.3646A>C (p.Asn1216His)
c.9496A>C (p.Asn3166His)
c.9376A>C (p.Asn3126His)
c.9307A>C (p.Asn3103His)
c.7711A>C (p.Asn2571His)
n.9847A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748045T=CA1628502383PKHD1c.9571A= (p.Asn3191=)
c.9442A= (p.Asn3148=)
c.9433A= (p.Asn3145=)
c.8929A= (p.Asn2977=)
c.8860A= (p.Asn2954=)
c.3646A= (p.Asn1216=)
c.9496A= (p.Asn3166=)
c.9376A= (p.Asn3126=)
c.9307A= (p.Asn3103=)
c.7711A= (p.Asn2571=)
n.9847A=
6g.51748046T>ACA364420784PKHD1c.9570A>T (p.Gln3190His)
c.9441A>T (p.Gln3147His)
c.9432A>T (p.Gln3144His)
c.8928A>T (p.Gln2976His)
c.8859A>T (p.Gln2953His)
c.3645A>T (p.Gln1215His)
c.9495A>T (p.Gln3165His)
c.9375A>T (p.Gln3125His)
c.9306A>T (p.Gln3102His)
c.7710A>T (p.Gln2570His)
n.9846A>T
 gnomAD v4
6g.51748046T>CCA450613366PKHD1c.9570A>G (p.Gln3190=)
c.9441A>G (p.Gln3147=)
c.9432A>G (p.Gln3144=)
c.8928A>G (p.Gln2976=)
c.8859A>G (p.Gln2953=)
c.3645A>G (p.Gln1215=)
c.9495A>G (p.Gln3165=)
c.9375A>G (p.Gln3125=)
c.9306A>G (p.Gln3102=)
c.7710A>G (p.Gln2570=)
n.9846A>G
6g.51748046T>GCA364420783PKHD1c.9570A>C (p.Gln3190His)
c.9441A>C (p.Gln3147His)
c.9432A>C (p.Gln3144His)
c.8928A>C (p.Gln2976His)
c.8859A>C (p.Gln2953His)
c.3645A>C (p.Gln1215His)
c.9495A>C (p.Gln3165His)
c.9375A>C (p.Gln3125His)
c.9306A>C (p.Gln3102His)
c.7710A>C (p.Gln2570His)
n.9846A>C
6g.51748046_51748047insAACACCA2512744512PKHD1c.9569_9570insGTGTT (p.Asn3191CysfsTer2)
c.9440_9441insGTGTT (p.Asn3148CysfsTer2)
c.9431_9432insGTGTT (p.Asn3145CysfsTer2)
c.8927_8928insGTGTT (p.Asn2977CysfsTer2)
c.8858_8859insGTGTT (p.Asn2954CysfsTer2)
c.3644_3645insGTGTT (p.Asn1216CysfsTer2)
c.9494_9495insGTGTT (p.Asn3166CysfsTer2)
c.9374_9375insGTGTT (p.Asn3126CysfsTer2)
c.9305_9306insGTGTT (p.Asn3103CysfsTer2)
c.7709_7710insGTGTT (p.Asn2571CysfsTer2)
n.9845_9846insGTGTT
6g.51748047T>ACA364420785PKHD1c.9569A>T (p.Gln3190Leu)
c.9440A>T (p.Gln3147Leu)
c.9431A>T (p.Gln3144Leu)
c.8927A>T (p.Gln2976Leu)
c.8858A>T (p.Gln2953Leu)
c.3644A>T (p.Gln1215Leu)
c.9494A>T (p.Gln3165Leu)
c.9374A>T (p.Gln3125Leu)
c.9305A>T (p.Gln3102Leu)
c.7709A>T (p.Gln2570Leu)
n.9845A>T
6g.51748047T>CCA364420786PKHD1c.9569A>G (p.Gln3190Arg)
c.9440A>G (p.Gln3147Arg)
c.9431A>G (p.Gln3144Arg)
c.8927A>G (p.Gln2976Arg)
c.8858A>G (p.Gln2953Arg)
c.3644A>G (p.Gln1215Arg)
c.9494A>G (p.Gln3165Arg)
c.9374A>G (p.Gln3125Arg)
c.9305A>G (p.Gln3102Arg)
c.7709A>G (p.Gln2570Arg)
n.9845A>G
6g.51748047T>GCA364420787PKHD1c.9569A>C (p.Gln3190Pro)
c.9440A>C (p.Gln3147Pro)
c.9431A>C (p.Gln3144Pro)
c.8927A>C (p.Gln2976Pro)
c.8858A>C (p.Gln2953Pro)
c.3644A>C (p.Gln1215Pro)
c.9494A>C (p.Gln3165Pro)
c.9374A>C (p.Gln3125Pro)
c.9305A>C (p.Gln3102Pro)
c.7709A>C (p.Gln2570Pro)
n.9845A>C
6g.51748048G>ACA364420788PKHD1c.9568C>T (p.Gln3190Ter)
c.9439C>T (p.Gln3147Ter)
c.9430C>T (p.Gln3144Ter)
c.8926C>T (p.Gln2976Ter)
c.8857C>T (p.Gln2953Ter)
c.3643C>T (p.Gln1215Ter)
c.9493C>T (p.Gln3165Ter)
c.9373C>T (p.Gln3125Ter)
c.9304C>T (p.Gln3102Ter)
c.7708C>T (p.Gln2570Ter)
n.9844C>T
 ClinVar
6g.51748048G>CCA364420789PKHD1c.9568C>G (p.Gln3190Glu)
c.9439C>G (p.Gln3147Glu)
c.9430C>G (p.Gln3144Glu)
c.8926C>G (p.Gln2976Glu)
c.8857C>G (p.Gln2953Glu)
c.3643C>G (p.Gln1215Glu)
c.9493C>G (p.Gln3165Glu)
c.9373C>G (p.Gln3125Glu)
c.9304C>G (p.Gln3102Glu)
c.7708C>G (p.Gln2570Glu)
n.9844C>G
6g.51748048G>TCA364420790PKHD1c.9568C>A (p.Gln3190Lys)
c.9439C>A (p.Gln3147Lys)
c.9430C>A (p.Gln3144Lys)
c.8926C>A (p.Gln2976Lys)
c.8857C>A (p.Gln2953Lys)
c.3643C>A (p.Gln1215Lys)
c.9493C>A (p.Gln3165Lys)
c.9373C>A (p.Gln3125Lys)
c.9304C>A (p.Gln3102Lys)
c.7708C>A (p.Gln2570Lys)
n.9844C>A
6g.51748049T>ACA450613373PKHD1c.9567A>T (p.Pro3189=)
c.9438A>T (p.Pro3146=)
c.9429A>T (p.Pro3143=)
c.8925A>T (p.Pro2975=)
c.8856A>T (p.Pro2952=)
c.3642A>T (p.Pro1214=)
c.9492A>T (p.Pro3164=)
c.9372A>T (p.Pro3124=)
c.9303A>T (p.Pro3101=)
c.7707A>T (p.Pro2569=)
n.9843A>T
 ClinVar
6g.51748049T>CCA450613368PKHD1c.9567A>G (p.Pro3189=)
c.9438A>G (p.Pro3146=)
c.9429A>G (p.Pro3143=)
c.8925A>G (p.Pro2975=)
c.8856A>G (p.Pro2952=)
c.3642A>G (p.Pro1214=)
c.9492A>G (p.Pro3164=)
c.9372A>G (p.Pro3124=)
c.9303A>G (p.Pro3101=)
c.7707A>G (p.Pro2569=)
n.9843A>G
6g.51748049T>GCA450613369PKHD1c.9567A>C (p.Pro3189=)
c.9438A>C (p.Pro3146=)
c.9429A>C (p.Pro3143=)
c.8925A>C (p.Pro2975=)
c.8856A>C (p.Pro2952=)
c.3642A>C (p.Pro1214=)
c.9492A>C (p.Pro3164=)
c.9372A>C (p.Pro3124=)
c.9303A>C (p.Pro3101=)
c.7707A>C (p.Pro2569=)
n.9843A>C
6g.51748050G>ACA364420791PKHD1c.9566C>T (p.Pro3189Leu)
c.9437C>T (p.Pro3146Leu)
c.9428C>T (p.Pro3143Leu)
c.8924C>T (p.Pro2975Leu)
c.8855C>T (p.Pro2952Leu)
c.3641C>T (p.Pro1214Leu)
c.9491C>T (p.Pro3164Leu)
c.9371C>T (p.Pro3124Leu)
c.9302C>T (p.Pro3101Leu)
c.7706C>T (p.Pro2569Leu)
n.9842C>T
6g.51748050G>CCA364420792PKHD1c.9566C>G (p.Pro3189Arg)
c.9437C>G (p.Pro3146Arg)
c.9428C>G (p.Pro3143Arg)
c.8924C>G (p.Pro2975Arg)
c.8855C>G (p.Pro2952Arg)
c.3641C>G (p.Pro1214Arg)
c.9491C>G (p.Pro3164Arg)
c.9371C>G (p.Pro3124Arg)
c.9302C>G (p.Pro3101Arg)
c.7706C>G (p.Pro2569Arg)
n.9842C>G
6g.51748050G>TCA364420793PKHD1c.9566C>A (p.Pro3189Gln)
c.9437C>A (p.Pro3146Gln)
c.9428C>A (p.Pro3143Gln)
c.8924C>A (p.Pro2975Gln)
c.8855C>A (p.Pro2952Gln)
c.3641C>A (p.Pro1214Gln)
c.9491C>A (p.Pro3164Gln)
c.9371C>A (p.Pro3124Gln)
c.9302C>A (p.Pro3101Gln)
c.7706C>A (p.Pro2569Gln)
n.9842C>A
6g.51748051G>ACA364420794PKHD1c.9565C>T (p.Pro3189Ser)
c.9436C>T (p.Pro3146Ser)
c.9427C>T (p.Pro3143Ser)
c.8923C>T (p.Pro2975Ser)
c.8854C>T (p.Pro2952Ser)
c.3640C>T (p.Pro1214Ser)
c.9490C>T (p.Pro3164Ser)
c.9370C>T (p.Pro3124Ser)
c.9301C>T (p.Pro3101Ser)
c.7705C>T (p.Pro2569Ser)
n.9841C>T
6g.51748051G>CCA364420795PKHD1c.9565C>G (p.Pro3189Ala)
c.9436C>G (p.Pro3146Ala)
c.9427C>G (p.Pro3143Ala)
c.8923C>G (p.Pro2975Ala)
c.8854C>G (p.Pro2952Ala)
c.3640C>G (p.Pro1214Ala)
c.9490C>G (p.Pro3164Ala)
c.9370C>G (p.Pro3124Ala)
c.9301C>G (p.Pro3101Ala)
c.7705C>G (p.Pro2569Ala)
n.9841C>G
6g.51748051G>TCA364420796PKHD1c.9565C>A (p.Pro3189Thr)
c.9436C>A (p.Pro3146Thr)
c.9427C>A (p.Pro3143Thr)
c.8923C>A (p.Pro2975Thr)
c.8854C>A (p.Pro2952Thr)
c.3640C>A (p.Pro1214Thr)
c.9490C>A (p.Pro3164Thr)
c.9370C>A (p.Pro3124Thr)
c.9301C>A (p.Pro3101Thr)
c.7705C>A (p.Pro2569Thr)
n.9841C>A
6g.51748052A>CCA450613376PKHD1c.9564T>G (p.Ala3188=)
c.9435T>G (p.Ala3145=)
c.9426T>G (p.Ala3142=)
c.8922T>G (p.Ala2974=)
c.8853T>G (p.Ala2951=)
c.3639T>G (p.Ala1213=)
c.9489T>G (p.Ala3163=)
c.9369T>G (p.Ala3123=)
c.9300T>G (p.Ala3100=)
c.7704T>G (p.Ala2568=)
n.9840T>G
6g.51748052A>GCA450613378PKHD1c.9564T>C (p.Ala3188=)
c.9435T>C (p.Ala3145=)
c.9426T>C (p.Ala3142=)
c.8922T>C (p.Ala2974=)
c.8853T>C (p.Ala2951=)
c.3639T>C (p.Ala1213=)
c.9489T>C (p.Ala3163=)
c.9369T>C (p.Ala3123=)
c.9300T>C (p.Ala3100=)
c.7704T>C (p.Ala2568=)
n.9840T>C
6g.51748052A>TCA450613377PKHD1c.9564T>A (p.Ala3188=)
c.9435T>A (p.Ala3145=)
c.9426T>A (p.Ala3142=)
c.8922T>A (p.Ala2974=)
c.8853T>A (p.Ala2951=)
c.3639T>A (p.Ala1213=)
c.9489T>A (p.Ala3163=)
c.9369T>A (p.Ala3123=)
c.9300T>A (p.Ala3100=)
c.7704T>A (p.Ala2568=)
n.9840T>A
6g.51748053G>ACA3851370PKHD1c.9563C>T (p.Ala3188Val)
c.9434C>T (p.Ala3145Val)
c.9425C>T (p.Ala3142Val)
c.8921C>T (p.Ala2974Val)
c.8852C>T (p.Ala2951Val)
c.3638C>T (p.Ala1213Val)
c.9488C>T (p.Ala3163Val)
c.9368C>T (p.Ala3123Val)
c.9299C>T (p.Ala3100Val)
c.7703C>T (p.Ala2568Val)
n.9839C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748053G>CCA364420797PKHD1c.9563C>G (p.Ala3188Gly)
c.9434C>G (p.Ala3145Gly)
c.9425C>G (p.Ala3142Gly)
c.8921C>G (p.Ala2974Gly)
c.8852C>G (p.Ala2951Gly)
c.3638C>G (p.Ala1213Gly)
c.9488C>G (p.Ala3163Gly)
c.9368C>G (p.Ala3123Gly)
c.9299C>G (p.Ala3100Gly)
c.7703C>G (p.Ala2568Gly)
n.9839C>G
6g.51748053G=CA1628502388PKHD1c.9563C= (p.Ala3188=)
c.9434C= (p.Ala3145=)
c.9425C= (p.Ala3142=)
c.8921C= (p.Ala2974=)
c.8852C= (p.Ala2951=)
c.3638C= (p.Ala1213=)
c.9488C= (p.Ala3163=)
c.9368C= (p.Ala3123=)
c.9299C= (p.Ala3100=)
c.7703C= (p.Ala2568=)
n.9839C=
6g.51748053G>TCA364420798PKHD1c.9563C>A (p.Ala3188Asp)
c.9434C>A (p.Ala3145Asp)
c.9425C>A (p.Ala3142Asp)
c.8921C>A (p.Ala2974Asp)
c.8852C>A (p.Ala2951Asp)
c.3638C>A (p.Ala1213Asp)
c.9488C>A (p.Ala3163Asp)
c.9368C>A (p.Ala3123Asp)
c.9299C>A (p.Ala3100Asp)
c.7703C>A (p.Ala2568Asp)
n.9839C>A
6g.51748054C>ACA138896039PKHD1c.9562G>T (p.Ala3188Ser)
c.9433G>T (p.Ala3145Ser)
c.9424G>T (p.Ala3142Ser)
c.8920G>T (p.Ala2974Ser)
c.8851G>T (p.Ala2951Ser)
c.3637G>T (p.Ala1213Ser)
c.9487G>T (p.Ala3163Ser)
c.9367G>T (p.Ala3123Ser)
c.9298G>T (p.Ala3100Ser)
c.7702G>T (p.Ala2568Ser)
n.9838G>T
 dbSNP COSMIC COSMIC
6g.51748054C=CA1628502391PKHD1c.9562G= (p.Ala3188=)
c.9433G= (p.Ala3145=)
c.9424G= (p.Ala3142=)
c.8920G= (p.Ala2974=)
c.8851G= (p.Ala2951=)
c.3637G= (p.Ala1213=)
c.9487G= (p.Ala3163=)
c.9367G= (p.Ala3123=)
c.9298G= (p.Ala3100=)
c.7702G= (p.Ala2568=)
n.9838G=
6g.51748054C>GCA3851371PKHD1c.9562G>C (p.Ala3188Pro)
c.9433G>C (p.Ala3145Pro)
c.9424G>C (p.Ala3142Pro)
c.8920G>C (p.Ala2974Pro)
c.8851G>C (p.Ala2951Pro)
c.3637G>C (p.Ala1213Pro)
c.9487G>C (p.Ala3163Pro)
c.9367G>C (p.Ala3123Pro)
c.9298G>C (p.Ala3100Pro)
c.7702G>C (p.Ala2568Pro)
n.9838G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748054C>TCA3851372PKHD1c.9562G>A (p.Ala3188Thr)
c.9433G>A (p.Ala3145Thr)
c.9424G>A (p.Ala3142Thr)
c.8920G>A (p.Ala2974Thr)
c.8851G>A (p.Ala2951Thr)
c.3637G>A (p.Ala1213Thr)
c.9487G>A (p.Ala3163Thr)
c.9367G>A (p.Ala3123Thr)
c.9298G>A (p.Ala3100Thr)
c.7702G>A (p.Ala2568Thr)
n.9838G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748055A=CA1628502394PKHD1c.9561T= (p.Ser3187=)
c.9432T= (p.Ser3144=)
c.9423T= (p.Ser3141=)
c.8919T= (p.Ser2973=)
c.8850T= (p.Ser2950=)
c.3636T= (p.Ser1212=)
c.9486T= (p.Ser3162=)
c.9366T= (p.Ser3122=)
c.9297T= (p.Ser3099=)
c.7701T= (p.Ser2567=)
n.9837T=
6g.51748055A>CCA450613380PKHD1c.9561T>G (p.Ser3187=)
c.9432T>G (p.Ser3144=)
c.9423T>G (p.Ser3141=)
c.8919T>G (p.Ser2973=)
c.8850T>G (p.Ser2950=)
c.3636T>G (p.Ser1212=)
c.9486T>G (p.Ser3162=)
c.9366T>G (p.Ser3122=)
c.9297T>G (p.Ser3099=)
c.7701T>G (p.Ser2567=)
n.9837T>G
6g.51748055A>GCA450613381PKHD1c.9561T>C (p.Ser3187=)
c.9432T>C (p.Ser3144=)
c.9423T>C (p.Ser3141=)
c.8919T>C (p.Ser2973=)
c.8850T>C (p.Ser2950=)
c.3636T>C (p.Ser1212=)
c.9486T>C (p.Ser3162=)
c.9366T>C (p.Ser3122=)
c.9297T>C (p.Ser3099=)
c.7701T>C (p.Ser2567=)
n.9837T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748055A>TCA450613384PKHD1c.9561T>A (p.Ser3187=)
c.9432T>A (p.Ser3144=)
c.9423T>A (p.Ser3141=)
c.8919T>A (p.Ser2973=)
c.8850T>A (p.Ser2950=)
c.3636T>A (p.Ser1212=)
c.9486T>A (p.Ser3162=)
c.9366T>A (p.Ser3122=)
c.9297T>A (p.Ser3099=)
c.7701T>A (p.Ser2567=)
n.9837T>A
6g.51748055_51748056delinsAGCA1628502396PKHD1c.9560_9561delinsCT (p.Ser3187=)
c.9431_9432delinsCT (p.Ser3144=)
c.9422_9423delinsCT (p.Ser3141=)
c.8918_8919delinsCT (p.Ser2973=)
c.8849_8850delinsCT (p.Ser2950=)
c.3635_3636delinsCT (p.Ser1212=)
c.9485_9486delinsCT (p.Ser3162=)
c.9365_9366delinsCT (p.Ser3122=)
c.9296_9297delinsCT (p.Ser3099=)
c.7700_7701delinsCT (p.Ser2567=)
n.9836_9837delinsCT
6g.51748056delCA891862705PKHD1c.9560del (p.Ser3187LeufsTer?)
c.9431del (p.Ser3144LeufsTer?)
c.9422del (p.Ser3141LeufsTer?)
c.8918del (p.Ser2973LeufsTer?)
c.8849del (p.Ser2950LeufsTer?)
c.3635del (p.Ser1212LeufsTer?)
c.9485del (p.Ser3162LeufsTer?)
c.9365del (p.Ser3122LeufsTer?)
c.9296del (p.Ser3099LeufsTer?)
c.7700del (p.Ser2567LeufsTer?)
n.9836del
 ClinVar dbSNP
6g.51748056G>ACA364420799PKHD1c.9560C>T (p.Ser3187Phe)
c.9431C>T (p.Ser3144Phe)
c.9422C>T (p.Ser3141Phe)
c.8918C>T (p.Ser2973Phe)
c.8849C>T (p.Ser2950Phe)
c.3635C>T (p.Ser1212Phe)
c.9485C>T (p.Ser3162Phe)
c.9365C>T (p.Ser3122Phe)
c.9296C>T (p.Ser3099Phe)
c.7700C>T (p.Ser2567Phe)
n.9836C>T
6g.51748056G>CCA364420800PKHD1c.9560C>G (p.Ser3187Cys)
c.9431C>G (p.Ser3144Cys)
c.9422C>G (p.Ser3141Cys)
c.8918C>G (p.Ser2973Cys)
c.8849C>G (p.Ser2950Cys)
c.3635C>G (p.Ser1212Cys)
c.9485C>G (p.Ser3162Cys)
c.9365C>G (p.Ser3122Cys)
c.9296C>G (p.Ser3099Cys)
c.7700C>G (p.Ser2567Cys)
n.9836C>G
 gnomAD v4
6g.51748056G=CA1628502407PKHD1c.9560C= (p.Ser3187=)
c.9431C= (p.Ser3144=)
c.9422C= (p.Ser3141=)
c.8918C= (p.Ser2973=)
c.8849C= (p.Ser2950=)
c.3635C= (p.Ser1212=)
c.9485C= (p.Ser3162=)
c.9365C= (p.Ser3122=)
c.9296C= (p.Ser3099=)
c.7700C= (p.Ser2567=)
n.9836C=
6g.51748056G>TCA138896065PKHD1c.9560C>A (p.Ser3187Tyr)
c.9431C>A (p.Ser3144Tyr)
c.9422C>A (p.Ser3141Tyr)
c.8918C>A (p.Ser2973Tyr)
c.8849C>A (p.Ser2950Tyr)
c.3635C>A (p.Ser1212Tyr)
c.9485C>A (p.Ser3162Tyr)
c.9365C>A (p.Ser3122Tyr)
c.9296C>A (p.Ser3099Tyr)
c.7700C>A (p.Ser2567Tyr)
n.9836C>A
 dbSNP gnomAD v3 COSMIC COSMIC
6g.51748056_51748057delinsGACA1628502406PKHD1c.9559_9560delinsTC (p.Ser3187=)
c.9430_9431delinsTC (p.Ser3144=)
c.9421_9422delinsTC (p.Ser3141=)
c.8917_8918delinsTC (p.Ser2973=)
c.8848_8849delinsTC (p.Ser2950=)
c.3634_3635delinsTC (p.Ser1212=)
c.9484_9485delinsTC (p.Ser3162=)
c.9364_9365delinsTC (p.Ser3122=)
c.9295_9296delinsTC (p.Ser3099=)
c.7699_7700delinsTC (p.Ser2567=)
n.9835_9836delinsTC
6g.51748057A>CCA364420801PKHD1c.9559T>G (p.Ser3187Ala)
c.9430T>G (p.Ser3144Ala)
c.9421T>G (p.Ser3141Ala)
c.8917T>G (p.Ser2973Ala)
c.8848T>G (p.Ser2950Ala)
c.3634T>G (p.Ser1212Ala)
c.9484T>G (p.Ser3162Ala)
c.9364T>G (p.Ser3122Ala)
c.9295T>G (p.Ser3099Ala)
c.7699T>G (p.Ser2567Ala)
n.9835T>G
6g.51748057A>GCA364420802PKHD1c.9559T>C (p.Ser3187Pro)
c.9430T>C (p.Ser3144Pro)
c.9421T>C (p.Ser3141Pro)
c.8917T>C (p.Ser2973Pro)
c.8848T>C (p.Ser2950Pro)
c.3634T>C (p.Ser1212Pro)
c.9484T>C (p.Ser3162Pro)
c.9364T>C (p.Ser3122Pro)
c.9295T>C (p.Ser3099Pro)
c.7699T>C (p.Ser2567Pro)
n.9835T>C
6g.51748057A>TCA364420803PKHD1c.9559T>A (p.Ser3187Thr)
c.9430T>A (p.Ser3144Thr)
c.9421T>A (p.Ser3141Thr)
c.8917T>A (p.Ser2973Thr)
c.8848T>A (p.Ser2950Thr)
c.3634T>A (p.Ser1212Thr)
c.9484T>A (p.Ser3162Thr)
c.9364T>A (p.Ser3122Thr)
c.9295T>A (p.Ser3099Thr)
c.7699T>A (p.Ser2567Thr)
n.9835T>A
6g.51748060delCA276016PKHD1c.9559del (p.Ser3187LeufsTer?)
c.9430del (p.Ser3144LeufsTer?)
c.9421del (p.Ser3141LeufsTer?)
c.8917del (p.Ser2973LeufsTer?)
c.8848del (p.Ser2950LeufsTer?)
c.3634del (p.Ser1212LeufsTer?)
c.9484del (p.Ser3162LeufsTer?)
c.9364del (p.Ser3122LeufsTer?)
c.9295del (p.Ser3099LeufsTer?)
c.7699del (p.Ser2567LeufsTer?)
n.9835del
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51748058A>CCA364420804PKHD1c.9558T>G (p.Phe3186Leu)
c.9429T>G (p.Phe3143Leu)
c.9420T>G (p.Phe3140Leu)
c.8916T>G (p.Phe2972Leu)
c.8847T>G (p.Phe2949Leu)
c.3633T>G (p.Phe1211Leu)
c.9483T>G (p.Phe3161Leu)
c.9363T>G (p.Phe3121Leu)
c.9294T>G (p.Phe3098Leu)
c.7698T>G (p.Phe2566Leu)
n.9834T>G
6g.51748058A>GCA450613389PKHD1c.9558T>C (p.Phe3186=)
c.9429T>C (p.Phe3143=)
c.9420T>C (p.Phe3140=)
c.8916T>C (p.Phe2972=)
c.8847T>C (p.Phe2949=)
c.3633T>C (p.Phe1211=)
c.9483T>C (p.Phe3161=)
c.9363T>C (p.Phe3121=)
c.9294T>C (p.Phe3098=)
c.7698T>C (p.Phe2566=)
n.9834T>C
6g.51748058A>TCA364420805PKHD1c.9558T>A (p.Phe3186Leu)
c.9429T>A (p.Phe3143Leu)
c.9420T>A (p.Phe3140Leu)
c.8916T>A (p.Phe2972Leu)
c.8847T>A (p.Phe2949Leu)
c.3633T>A (p.Phe1211Leu)
c.9483T>A (p.Phe3161Leu)
c.9363T>A (p.Phe3121Leu)
c.9294T>A (p.Phe3098Leu)
c.7698T>A (p.Phe2566Leu)
n.9834T>A
6g.51748059A>CCA364420808PKHD1c.9557T>G (p.Phe3186Cys)
c.9428T>G (p.Phe3143Cys)
c.9419T>G (p.Phe3140Cys)
c.8915T>G (p.Phe2972Cys)
c.8846T>G (p.Phe2949Cys)
c.3632T>G (p.Phe1211Cys)
c.9482T>G (p.Phe3161Cys)
c.9362T>G (p.Phe3121Cys)
c.9293T>G (p.Phe3098Cys)
c.7697T>G (p.Phe2566Cys)
n.9833T>G
6g.51748059A>GCA364420807PKHD1c.9557T>C (p.Phe3186Ser)
c.9428T>C (p.Phe3143Ser)
c.9419T>C (p.Phe3140Ser)
c.8915T>C (p.Phe2972Ser)
c.8846T>C (p.Phe2949Ser)
c.3632T>C (p.Phe1211Ser)
c.9482T>C (p.Phe3161Ser)
c.9362T>C (p.Phe3121Ser)
c.9293T>C (p.Phe3098Ser)
c.7697T>C (p.Phe2566Ser)
n.9833T>C
6g.51748059A>TCA364420806PKHD1c.9557T>A (p.Phe3186Tyr)
c.9428T>A (p.Phe3143Tyr)
c.9419T>A (p.Phe3140Tyr)
c.8915T>A (p.Phe2972Tyr)
c.8846T>A (p.Phe2949Tyr)
c.3632T>A (p.Phe1211Tyr)
c.9482T>A (p.Phe3161Tyr)
c.9362T>A (p.Phe3121Tyr)
c.9293T>A (p.Phe3098Tyr)
c.7697T>A (p.Phe2566Tyr)
n.9833T>A
6g.51748060A>CCA364420809PKHD1c.9556T>G (p.Phe3186Val)
c.9427T>G (p.Phe3143Val)
c.9418T>G (p.Phe3140Val)
c.8914T>G (p.Phe2972Val)
c.8845T>G (p.Phe2949Val)
c.3631T>G (p.Phe1211Val)
c.9481T>G (p.Phe3161Val)
c.9361T>G (p.Phe3121Val)
c.9292T>G (p.Phe3098Val)
c.7696T>G (p.Phe2566Val)
n.9832T>G
6g.51748060A>GCA364420811PKHD1c.9556T>C (p.Phe3186Leu)
c.9427T>C (p.Phe3143Leu)
c.9418T>C (p.Phe3140Leu)
c.8914T>C (p.Phe2972Leu)
c.8845T>C (p.Phe2949Leu)
c.3631T>C (p.Phe1211Leu)
c.9481T>C (p.Phe3161Leu)
c.9361T>C (p.Phe3121Leu)
c.9292T>C (p.Phe3098Leu)
c.7696T>C (p.Phe2566Leu)
n.9832T>C
6g.51748060A>TCA364420810PKHD1c.9556T>A (p.Phe3186Ile)
c.9427T>A (p.Phe3143Ile)
c.9418T>A (p.Phe3140Ile)
c.8914T>A (p.Phe2972Ile)
c.8845T>A (p.Phe2949Ile)
c.3631T>A (p.Phe1211Ile)
c.9481T>A (p.Phe3161Ile)
c.9361T>A (p.Phe3121Ile)
c.9292T>A (p.Phe3098Ile)
c.7696T>A (p.Phe2566Ile)
n.9832T>A
6g.51748061T>ACA450613393PKHD1c.9555A>T (p.Val3185=)
c.9426A>T (p.Val3142=)
c.9417A>T (p.Val3139=)
c.8913A>T (p.Val2971=)
c.8844A>T (p.Val2948=)
c.3630A>T (p.Val1210=)
c.9480A>T (p.Val3160=)
c.9360A>T (p.Val3120=)
c.9291A>T (p.Val3097=)
c.7695A>T (p.Val2565=)
n.9831A>T
6g.51748061T>CCA450613395PKHD1c.9555A>G (p.Val3185=)
c.9426A>G (p.Val3142=)
c.9417A>G (p.Val3139=)
c.8913A>G (p.Val2971=)
c.8844A>G (p.Val2948=)
c.3630A>G (p.Val1210=)
c.9480A>G (p.Val3160=)
c.9360A>G (p.Val3120=)
c.9291A>G (p.Val3097=)
c.7695A>G (p.Val2565=)
n.9831A>G
6g.51748061T>GCA450613396PKHD1c.9555A>C (p.Val3185=)
c.9426A>C (p.Val3142=)
c.9417A>C (p.Val3139=)
c.8913A>C (p.Val2971=)
c.8844A>C (p.Val2948=)
c.3630A>C (p.Val1210=)
c.9480A>C (p.Val3160=)
c.9360A>C (p.Val3120=)
c.9291A>C (p.Val3097=)
c.7695A>C (p.Val2565=)
n.9831A>C
6g.51748062A>CCA364420812PKHD1c.9554T>G (p.Val3185Gly)
c.9425T>G (p.Val3142Gly)
c.9416T>G (p.Val3139Gly)
c.8912T>G (p.Val2971Gly)
c.8843T>G (p.Val2948Gly)
c.3629T>G (p.Val1210Gly)
c.9479T>G (p.Val3160Gly)
c.9359T>G (p.Val3120Gly)
c.9290T>G (p.Val3097Gly)
c.7694T>G (p.Val2565Gly)
n.9830T>G
6g.51748062A>GCA364420813PKHD1c.9554T>C (p.Val3185Ala)
c.9425T>C (p.Val3142Ala)
c.9416T>C (p.Val3139Ala)
c.8912T>C (p.Val2971Ala)
c.8843T>C (p.Val2948Ala)
c.3629T>C (p.Val1210Ala)
c.9479T>C (p.Val3160Ala)
c.9359T>C (p.Val3120Ala)
c.9290T>C (p.Val3097Ala)
c.7694T>C (p.Val2565Ala)
n.9830T>C
 gnomAD v4
6g.51748062A>TCA364420814PKHD1c.9554T>A (p.Val3185Glu)
c.9425T>A (p.Val3142Glu)
c.9416T>A (p.Val3139Glu)
c.8912T>A (p.Val2971Glu)
c.8843T>A (p.Val2948Glu)
c.3629T>A (p.Val1210Glu)
c.9479T>A (p.Val3160Glu)
c.9359T>A (p.Val3120Glu)
c.9290T>A (p.Val3097Glu)
c.7694T>A (p.Val2565Glu)
n.9830T>A
6g.51748063C>ACA364420815PKHD1c.9553G>T (p.Val3185Leu)
c.9424G>T (p.Val3142Leu)
c.9415G>T (p.Val3139Leu)
c.8911G>T (p.Val2971Leu)
c.8842G>T (p.Val2948Leu)
c.3628G>T (p.Val1210Leu)
c.9478G>T (p.Val3160Leu)
c.9358G>T (p.Val3120Leu)
c.9289G>T (p.Val3097Leu)
c.7693G>T (p.Val2565Leu)
n.9829G>T
6g.51748063C=CA1628502420PKHD1c.9553G= (p.Val3185=)
c.9424G= (p.Val3142=)
c.9415G= (p.Val3139=)
c.8911G= (p.Val2971=)
c.8842G= (p.Val2948=)
c.3628G= (p.Val1210=)
c.9478G= (p.Val3160=)
c.9358G= (p.Val3120=)
c.9289G= (p.Val3097=)
c.7693G= (p.Val2565=)
n.9829G=
6g.51748063C>GCA364420816PKHD1c.9553G>C (p.Val3185Leu)
c.9424G>C (p.Val3142Leu)
c.9415G>C (p.Val3139Leu)
c.8911G>C (p.Val2971Leu)
c.8842G>C (p.Val2948Leu)
c.3628G>C (p.Val1210Leu)
c.9478G>C (p.Val3160Leu)
c.9358G>C (p.Val3120Leu)
c.9289G>C (p.Val3097Leu)
c.7693G>C (p.Val2565Leu)
n.9829G>C
6g.51748063C>TCA3851373PKHD1c.9553G>A (p.Val3185Ile)
c.9424G>A (p.Val3142Ile)
c.9415G>A (p.Val3139Ile)
c.8911G>A (p.Val2971Ile)
c.8842G>A (p.Val2948Ile)
c.3628G>A (p.Val1210Ile)
c.9478G>A (p.Val3160Ile)
c.9358G>A (p.Val3120Ile)
c.9289G>A (p.Val3097Ile)
c.7693G>A (p.Val2565Ile)
n.9829G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748064A=CA1628502429PKHD1c.9552T= (p.Tyr3184=)
c.9423T= (p.Tyr3141=)
c.9414T= (p.Tyr3138=)
c.8910T= (p.Tyr2970=)
c.8841T= (p.Tyr2947=)
c.3627T= (p.Tyr1209=)
c.9477T= (p.Tyr3159=)
c.9357T= (p.Tyr3119=)
c.9288T= (p.Tyr3096=)
c.7692T= (p.Tyr2564=)
n.9828T=
6g.51748064A>CCA364420817PKHD1c.9552T>G (p.Tyr3184Ter)
c.9423T>G (p.Tyr3141Ter)
c.9414T>G (p.Tyr3138Ter)
c.8910T>G (p.Tyr2970Ter)
c.8841T>G (p.Tyr2947Ter)
c.3627T>G (p.Tyr1209Ter)
c.9477T>G (p.Tyr3159Ter)
c.9357T>G (p.Tyr3119Ter)
c.9288T>G (p.Tyr3096Ter)
c.7692T>G (p.Tyr2564Ter)
n.9828T>G
 ClinVar
6g.51748064A>GCA450613400PKHD1c.9552T>C (p.Tyr3184=)
c.9423T>C (p.Tyr3141=)
c.9414T>C (p.Tyr3138=)
c.8910T>C (p.Tyr2970=)
c.8841T>C (p.Tyr2947=)
c.3627T>C (p.Tyr1209=)
c.9477T>C (p.Tyr3159=)
c.9357T>C (p.Tyr3119=)
c.9288T>C (p.Tyr3096=)
c.7692T>C (p.Tyr2564=)
n.9828T>C
6g.51748064A>TCA364420818PKHD1c.9552T>A (p.Tyr3184Ter)
c.9423T>A (p.Tyr3141Ter)
c.9414T>A (p.Tyr3138Ter)
c.8910T>A (p.Tyr2970Ter)
c.8841T>A (p.Tyr2947Ter)
c.3627T>A (p.Tyr1209Ter)
c.9477T>A (p.Tyr3159Ter)
c.9357T>A (p.Tyr3119Ter)
c.9288T>A (p.Tyr3096Ter)
c.7692T>A (p.Tyr2564Ter)
n.9828T>A
6g.51748065T>ACA364420819PKHD1c.9551A>T (p.Tyr3184Phe)
c.9422A>T (p.Tyr3141Phe)
c.9413A>T (p.Tyr3138Phe)
c.8909A>T (p.Tyr2970Phe)
c.8840A>T (p.Tyr2947Phe)
c.3626A>T (p.Tyr1209Phe)
c.9476A>T (p.Tyr3159Phe)
c.9356A>T (p.Tyr3119Phe)
c.9287A>T (p.Tyr3096Phe)
c.7691A>T (p.Tyr2564Phe)
n.9827A>T
 gnomAD v4
6g.51748065T>CCA364420820PKHD1c.9551A>G (p.Tyr3184Cys)
c.9422A>G (p.Tyr3141Cys)
c.9413A>G (p.Tyr3138Cys)
c.8909A>G (p.Tyr2970Cys)
c.8840A>G (p.Tyr2947Cys)
c.3626A>G (p.Tyr1209Cys)
c.9476A>G (p.Tyr3159Cys)
c.9356A>G (p.Tyr3119Cys)
c.9287A>G (p.Tyr3096Cys)
c.7691A>G (p.Tyr2564Cys)
n.9827A>G
 dbSNP gnomAD v2 gnomAD v4
6g.51748065T>GCA364420821PKHD1c.9551A>C (p.Tyr3184Ser)
c.9422A>C (p.Tyr3141Ser)
c.9413A>C (p.Tyr3138Ser)
c.8909A>C (p.Tyr2970Ser)
c.8840A>C (p.Tyr2947Ser)
c.3626A>C (p.Tyr1209Ser)
c.9476A>C (p.Tyr3159Ser)
c.9356A>C (p.Tyr3119Ser)
c.9287A>C (p.Tyr3096Ser)
c.7691A>C (p.Tyr2564Ser)
n.9827A>C
6g.51748065T=CA1628502431PKHD1c.9551A= (p.Tyr3184=)
c.9422A= (p.Tyr3141=)
c.9413A= (p.Tyr3138=)
c.8909A= (p.Tyr2970=)
c.8840A= (p.Tyr2947=)
c.3626A= (p.Tyr1209=)
c.9476A= (p.Tyr3159=)
c.9356A= (p.Tyr3119=)
c.9287A= (p.Tyr3096=)
c.7691A= (p.Tyr2564=)
n.9827A=
6g.51748065_51748067dupCA1628502430PKHD1c.9549_9551dup (p.Tyr3184Ter)
c.9420_9422dup (p.Tyr3141Ter)
c.9411_9413dup (p.Tyr3138Ter)
c.8907_8909dup (p.Tyr2970Ter)
c.8838_8840dup (p.Tyr2947Ter)
c.3624_3626dup (p.Tyr1209Ter)
c.9474_9476dup (p.Tyr3159Ter)
c.9354_9356dup (p.Tyr3119Ter)
c.9285_9287dup (p.Tyr3096Ter)
c.7689_7691dup (p.Tyr2564Ter)
n.9825_9827dup
 dbSNP
6g.51748066A>CCA364420824PKHD1c.9550T>G (p.Tyr3184Asp)
c.9421T>G (p.Tyr3141Asp)
c.9412T>G (p.Tyr3138Asp)
c.8908T>G (p.Tyr2970Asp)
c.8839T>G (p.Tyr2947Asp)
c.3625T>G (p.Tyr1209Asp)
c.9475T>G (p.Tyr3159Asp)
c.9355T>G (p.Tyr3119Asp)
c.9286T>G (p.Tyr3096Asp)
c.7690T>G (p.Tyr2564Asp)
n.9826T>G
6g.51748066A>GCA364420822PKHD1c.9550T>C (p.Tyr3184His)
c.9421T>C (p.Tyr3141His)
c.9412T>C (p.Tyr3138His)
c.8908T>C (p.Tyr2970His)
c.8839T>C (p.Tyr2947His)
c.3625T>C (p.Tyr1209His)
c.9475T>C (p.Tyr3159His)
c.9355T>C (p.Tyr3119His)
c.9286T>C (p.Tyr3096His)
c.7690T>C (p.Tyr2564His)
n.9826T>C
6g.51748066A>TCA364420823PKHD1c.9550T>A (p.Tyr3184Asn)
c.9421T>A (p.Tyr3141Asn)
c.9412T>A (p.Tyr3138Asn)
c.8908T>A (p.Tyr2970Asn)
c.8839T>A (p.Tyr2947Asn)
c.3625T>A (p.Tyr1209Asn)
c.9475T>A (p.Tyr3159Asn)
c.9355T>A (p.Tyr3119Asn)
c.9286T>A (p.Tyr3096Asn)
c.7690T>A (p.Tyr2564Asn)
n.9826T>A
6g.51748067C>ACA450613407PKHD1c.9549G>T (p.Val3183=)
c.9420G>T (p.Val3140=)
c.9411G>T (p.Val3137=)
c.8907G>T (p.Val2969=)
c.8838G>T (p.Val2946=)
c.3624G>T (p.Val1208=)
c.9474G>T (p.Val3158=)
c.9354G>T (p.Val3118=)
c.9285G>T (p.Val3095=)
c.7689G>T (p.Val2563=)
n.9825G>T
6g.51748067C=CA1628502436PKHD1c.9549G= (p.Val3183=)
c.9420G= (p.Val3140=)
c.9411G= (p.Val3137=)
c.8907G= (p.Val2969=)
c.8838G= (p.Val2946=)
c.3624G= (p.Val1208=)
c.9474G= (p.Val3158=)
c.9354G= (p.Val3118=)
c.9285G= (p.Val3095=)
c.7689G= (p.Val2563=)
n.9825G=
6g.51748067C>GCA450613409PKHD1c.9549G>C (p.Val3183=)
c.9420G>C (p.Val3140=)
c.9411G>C (p.Val3137=)
c.8907G>C (p.Val2969=)
c.8838G>C (p.Val2946=)
c.3624G>C (p.Val1208=)
c.9474G>C (p.Val3158=)
c.9354G>C (p.Val3118=)
c.9285G>C (p.Val3095=)
c.7689G>C (p.Val2563=)
n.9825G>C
6g.51748067C>TCA3851374PKHD1c.9549G>A (p.Val3183=)
c.9420G>A (p.Val3140=)
c.9411G>A (p.Val3137=)
c.8907G>A (p.Val2969=)
c.8838G>A (p.Val2946=)
c.3624G>A (p.Val1208=)
c.9474G>A (p.Val3158=)
c.9354G>A (p.Val3118=)
c.9285G>A (p.Val3095=)
c.7689G>A (p.Val2563=)
n.9825G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748068A=CA1628502438PKHD1c.9548T= (p.Val3183=)
c.9419T= (p.Val3140=)
c.9410T= (p.Val3137=)
c.8906T= (p.Val2969=)
c.8837T= (p.Val2946=)
c.3623T= (p.Val1208=)
c.9473T= (p.Val3158=)
c.9353T= (p.Val3118=)
c.9284T= (p.Val3095=)
c.7688T= (p.Val2563=)
n.9824T=
6g.51748068A>CCA364420825PKHD1c.9548T>G (p.Val3183Gly)
c.9419T>G (p.Val3140Gly)
c.9410T>G (p.Val3137Gly)
c.8906T>G (p.Val2969Gly)
c.8837T>G (p.Val2946Gly)
c.3623T>G (p.Val1208Gly)
c.9473T>G (p.Val3158Gly)
c.9353T>G (p.Val3118Gly)
c.9284T>G (p.Val3095Gly)
c.7688T>G (p.Val2563Gly)
n.9824T>G
6g.51748068A>GCA364420826PKHD1c.9548T>C (p.Val3183Ala)
c.9419T>C (p.Val3140Ala)
c.9410T>C (p.Val3137Ala)
c.8906T>C (p.Val2969Ala)
c.8837T>C (p.Val2946Ala)
c.3623T>C (p.Val1208Ala)
c.9473T>C (p.Val3158Ala)
c.9353T>C (p.Val3118Ala)
c.9284T>C (p.Val3095Ala)
c.7688T>C (p.Val2563Ala)
n.9824T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748068A>TCA364420827PKHD1c.9548T>A (p.Val3183Glu)
c.9419T>A (p.Val3140Glu)
c.9410T>A (p.Val3137Glu)
c.8906T>A (p.Val2969Glu)
c.8837T>A (p.Val2946Glu)
c.3623T>A (p.Val1208Glu)
c.9473T>A (p.Val3158Glu)
c.9353T>A (p.Val3118Glu)
c.9284T>A (p.Val3095Glu)
c.7688T>A (p.Val2563Glu)
n.9824T>A
6g.51748069C>ACA364420828PKHD1c.9547G>T (p.Val3183Leu)
c.9418G>T (p.Val3140Leu)
c.9409G>T (p.Val3137Leu)
c.8905G>T (p.Val2969Leu)
c.8836G>T (p.Val2946Leu)
c.3622G>T (p.Val1208Leu)
c.9472G>T (p.Val3158Leu)
c.9352G>T (p.Val3118Leu)
c.9283G>T (p.Val3095Leu)
c.7687G>T (p.Val2563Leu)
n.9823G>T
6g.51748069C>GCA364420829PKHD1c.9547G>C (p.Val3183Leu)
c.9418G>C (p.Val3140Leu)
c.9409G>C (p.Val3137Leu)
c.8905G>C (p.Val2969Leu)
c.8836G>C (p.Val2946Leu)
c.3622G>C (p.Val1208Leu)
c.9472G>C (p.Val3158Leu)
c.9352G>C (p.Val3118Leu)
c.9283G>C (p.Val3095Leu)
c.7687G>C (p.Val2563Leu)
n.9823G>C
6g.51748069C>TCA364420830PKHD1c.9547G>A (p.Val3183Met)
c.9418G>A (p.Val3140Met)
c.9409G>A (p.Val3137Met)
c.8905G>A (p.Val2969Met)
c.8836G>A (p.Val2946Met)
c.3622G>A (p.Val1208Met)
c.9472G>A (p.Val3158Met)
c.9352G>A (p.Val3118Met)
c.9283G>A (p.Val3095Met)
c.7687G>A (p.Val2563Met)
n.9823G>A
6g.51748070T>ACA450613413PKHD1c.9546A>T (p.Val3182=)
c.9417A>T (p.Val3139=)
c.9408A>T (p.Val3136=)
c.8904A>T (p.Val2968=)
c.8835A>T (p.Val2945=)
c.3621A>T (p.Val1207=)
c.9471A>T (p.Val3157=)
c.9351A>T (p.Val3117=)
c.9282A>T (p.Val3094=)
c.7686A>T (p.Val2562=)
n.9822A>T
6g.51748070T>CCA3851375PKHD1c.9546A>G (p.Val3182=)
c.9417A>G (p.Val3139=)
c.9408A>G (p.Val3136=)
c.8904A>G (p.Val2968=)
c.8835A>G (p.Val2945=)
c.3621A>G (p.Val1207=)
c.9471A>G (p.Val3157=)
c.9351A>G (p.Val3117=)
c.9282A>G (p.Val3094=)
c.7686A>G (p.Val2562=)
n.9822A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748070T>GCA450613414PKHD1c.9546A>C (p.Val3182=)
c.9417A>C (p.Val3139=)
c.9408A>C (p.Val3136=)
c.8904A>C (p.Val2968=)
c.8835A>C (p.Val2945=)
c.3621A>C (p.Val1207=)
c.9471A>C (p.Val3157=)
c.9351A>C (p.Val3117=)
c.9282A>C (p.Val3094=)
c.7686A>C (p.Val2562=)
n.9822A>C
6g.51748070T=CA1628502444PKHD1c.9546A= (p.Val3182=)
c.9417A= (p.Val3139=)
c.9408A= (p.Val3136=)
c.8904A= (p.Val2968=)
c.8835A= (p.Val2945=)
c.3621A= (p.Val1207=)
c.9471A= (p.Val3157=)
c.9351A= (p.Val3117=)
c.9282A= (p.Val3094=)
c.7686A= (p.Val2562=)
n.9822A=
6g.51748071A>CCA364420831PKHD1c.9545T>G (p.Val3182Gly)
c.9416T>G (p.Val3139Gly)
c.9407T>G (p.Val3136Gly)
c.8903T>G (p.Val2968Gly)
c.8834T>G (p.Val2945Gly)
c.3620T>G (p.Val1207Gly)
c.9470T>G (p.Val3157Gly)
c.9350T>G (p.Val3117Gly)
c.9281T>G (p.Val3094Gly)
c.7685T>G (p.Val2562Gly)
n.9821T>G
6g.51748071A>GCA364420832PKHD1c.9545T>C (p.Val3182Ala)
c.9416T>C (p.Val3139Ala)
c.9407T>C (p.Val3136Ala)
c.8903T>C (p.Val2968Ala)
c.8834T>C (p.Val2945Ala)
c.3620T>C (p.Val1207Ala)
c.9470T>C (p.Val3157Ala)
c.9350T>C (p.Val3117Ala)
c.9281T>C (p.Val3094Ala)
c.7685T>C (p.Val2562Ala)
n.9821T>C
6g.51748071A>TCA364420833PKHD1c.9545T>A (p.Val3182Glu)
c.9416T>A (p.Val3139Glu)
c.9407T>A (p.Val3136Glu)
c.8903T>A (p.Val2968Glu)
c.8834T>A (p.Val2945Glu)
c.3620T>A (p.Val1207Glu)
c.9470T>A (p.Val3157Glu)
c.9350T>A (p.Val3117Glu)
c.9281T>A (p.Val3094Glu)
c.7685T>A (p.Val2562Glu)
n.9821T>A
6g.51748072C>ACA364420835PKHD1c.9544G>T (p.Val3182Leu)
c.9415G>T (p.Val3139Leu)
c.9406G>T (p.Val3136Leu)
c.8902G>T (p.Val2968Leu)
c.8833G>T (p.Val2945Leu)
c.3619G>T (p.Val1207Leu)
c.9469G>T (p.Val3157Leu)
c.9349G>T (p.Val3117Leu)
c.9280G>T (p.Val3094Leu)
c.7684G>T (p.Val2562Leu)
n.9820G>T
6g.51748072C=CA1628502455PKHD1c.9544G= (p.Val3182=)
c.9415G= (p.Val3139=)
c.9406G= (p.Val3136=)
c.8902G= (p.Val2968=)
c.8833G= (p.Val2945=)
c.3619G= (p.Val1207=)
c.9469G= (p.Val3157=)
c.9349G= (p.Val3117=)
c.9280G= (p.Val3094=)
c.7684G= (p.Val2562=)
n.9820G=
6g.51748072C>GCA364420834PKHD1c.9544G>C (p.Val3182Leu)
c.9415G>C (p.Val3139Leu)
c.9406G>C (p.Val3136Leu)
c.8902G>C (p.Val2968Leu)
c.8833G>C (p.Val2945Leu)
c.3619G>C (p.Val1207Leu)
c.9469G>C (p.Val3157Leu)
c.9349G>C (p.Val3117Leu)
c.9280G>C (p.Val3094Leu)
c.7684G>C (p.Val2562Leu)
n.9820G>C
6g.51748072C>TCA3851376PKHD1c.9544G>A (p.Val3182Ile)
c.9415G>A (p.Val3139Ile)
c.9406G>A (p.Val3136Ile)
c.8902G>A (p.Val2968Ile)
c.8833G>A (p.Val2945Ile)
c.3619G>A (p.Val1207Ile)
c.9469G>A (p.Val3157Ile)
c.9349G>A (p.Val3117Ile)
c.9280G>A (p.Val3094Ile)
c.7684G>A (p.Val2562Ile)
n.9820G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748073T>ACA450613416PKHD1c.9543A>T (p.Ala3181=)
c.9414A>T (p.Ala3138=)
c.9405A>T (p.Ala3135=)
c.8901A>T (p.Ala2967=)
c.8832A>T (p.Ala2944=)
c.3618A>T (p.Ala1206=)
c.9468A>T (p.Ala3156=)
c.9348A>T (p.Ala3116=)
c.9279A>T (p.Ala3093=)
c.7683A>T (p.Ala2561=)
n.9819A>T
6g.51748073T>CCA450613417PKHD1c.9543A>G (p.Ala3181=)
c.9414A>G (p.Ala3138=)
c.9405A>G (p.Ala3135=)
c.8901A>G (p.Ala2967=)
c.8832A>G (p.Ala2944=)
c.3618A>G (p.Ala1206=)
c.9468A>G (p.Ala3156=)
c.9348A>G (p.Ala3116=)
c.9279A>G (p.Ala3093=)
c.7683A>G (p.Ala2561=)
n.9819A>G
 ClinVar dbSNP
6g.51748073T>GCA450613419PKHD1c.9543A>C (p.Ala3181=)
c.9414A>C (p.Ala3138=)
c.9405A>C (p.Ala3135=)
c.8901A>C (p.Ala2967=)
c.8832A>C (p.Ala2944=)
c.3618A>C (p.Ala1206=)
c.9468A>C (p.Ala3156=)
c.9348A>C (p.Ala3116=)
c.9279A>C (p.Ala3093=)
c.7683A>C (p.Ala2561=)
n.9819A>C
6g.51748073_51748076delinsAAACA2580075436PKHD1c.9540_9543delinsTTT (p.Leu3180PhefsTer3)
c.9411_9414delinsTTT (p.Leu3137PhefsTer3)
c.9402_9405delinsTTT (p.Leu3134PhefsTer3)
c.8898_8901delinsTTT (p.Leu2966PhefsTer3)
c.8829_8832delinsTTT (p.Leu2943PhefsTer3)
c.3615_3618delinsTTT (p.Leu1205PhefsTer3)
c.9465_9468delinsTTT (p.Leu3155PhefsTer3)
c.9345_9348delinsTTT (p.Leu3115PhefsTer3)
c.9276_9279delinsTTT (p.Leu3092PhefsTer3)
c.7680_7683delinsTTT (p.Leu2560PhefsTer3)
n.9816_9819delinsTTT
 ClinVar
6g.51748074G>ACA364420838PKHD1c.9542C>T (p.Ala3181Val)
c.9413C>T (p.Ala3138Val)
c.9404C>T (p.Ala3135Val)
c.8900C>T (p.Ala2967Val)
c.8831C>T (p.Ala2944Val)
c.3617C>T (p.Ala1206Val)
c.9467C>T (p.Ala3156Val)
c.9347C>T (p.Ala3116Val)
c.9278C>T (p.Ala3093Val)
c.7682C>T (p.Ala2561Val)
n.9818C>T
6g.51748074G>CCA364420836PKHD1c.9542C>G (p.Ala3181Gly)
c.9413C>G (p.Ala3138Gly)
c.9404C>G (p.Ala3135Gly)
c.8900C>G (p.Ala2967Gly)
c.8831C>G (p.Ala2944Gly)
c.3617C>G (p.Ala1206Gly)
c.9467C>G (p.Ala3156Gly)
c.9347C>G (p.Ala3116Gly)
c.9278C>G (p.Ala3093Gly)
c.7682C>G (p.Ala2561Gly)
n.9818C>G
6g.51748074G>TCA364420837PKHD1c.9542C>A (p.Ala3181Glu)
c.9413C>A (p.Ala3138Glu)
c.9404C>A (p.Ala3135Glu)
c.8900C>A (p.Ala2967Glu)
c.8831C>A (p.Ala2944Glu)
c.3617C>A (p.Ala1206Glu)
c.9467C>A (p.Ala3156Glu)
c.9347C>A (p.Ala3116Glu)
c.9278C>A (p.Ala3093Glu)
c.7682C>A (p.Ala2561Glu)
n.9818C>A
6g.51748075C>ACA364420839PKHD1c.9541G>T (p.Ala3181Ser)
c.9412G>T (p.Ala3138Ser)
c.9403G>T (p.Ala3135Ser)
c.8899G>T (p.Ala2967Ser)
c.8830G>T (p.Ala2944Ser)
c.3616G>T (p.Ala1206Ser)
c.9466G>T (p.Ala3156Ser)
c.9346G>T (p.Ala3116Ser)
c.9277G>T (p.Ala3093Ser)
c.7681G>T (p.Ala2561Ser)
n.9817G>T
6g.51748075C=CA1628502461PKHD1c.9541G= (p.Ala3181=)
c.9412G= (p.Ala3138=)
c.9403G= (p.Ala3135=)
c.8899G= (p.Ala2967=)
c.8830G= (p.Ala2944=)
c.3616G= (p.Ala1206=)
c.9466G= (p.Ala3156=)
c.9346G= (p.Ala3116=)
c.9277G= (p.Ala3093=)
c.7681G= (p.Ala2561=)
n.9817G=
6g.51748075C>GCA364420840PKHD1c.9541G>C (p.Ala3181Pro)
c.9412G>C (p.Ala3138Pro)
c.9403G>C (p.Ala3135Pro)
c.8899G>C (p.Ala2967Pro)
c.8830G>C (p.Ala2944Pro)
c.3616G>C (p.Ala1206Pro)
c.9466G>C (p.Ala3156Pro)
c.9346G>C (p.Ala3116Pro)
c.9277G>C (p.Ala3093Pro)
c.7681G>C (p.Ala2561Pro)
n.9817G>C
6g.51748075C>TCA3851377PKHD1c.9541G>A (p.Ala3181Thr)
c.9412G>A (p.Ala3138Thr)
c.9403G>A (p.Ala3135Thr)
c.8899G>A (p.Ala2967Thr)
c.8830G>A (p.Ala2944Thr)
c.3616G>A (p.Ala1206Thr)
c.9466G>A (p.Ala3156Thr)
c.9346G>A (p.Ala3116Thr)
c.9277G>A (p.Ala3093Thr)
c.7681G>A (p.Ala2561Thr)
n.9817G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748076C>ACA364420841PKHD1c.9540G>T (p.Leu3180Phe)
c.9411G>T (p.Leu3137Phe)
c.9402G>T (p.Leu3134Phe)
c.8898G>T (p.Leu2966Phe)
c.8829G>T (p.Leu2943Phe)
c.3615G>T (p.Leu1205Phe)
c.9465G>T (p.Leu3155Phe)
c.9345G>T (p.Leu3115Phe)
c.9276G>T (p.Leu3092Phe)
c.7680G>T (p.Leu2560Phe)
n.9816G>T
6g.51748076C>GCA364420842PKHD1c.9540G>C (p.Leu3180Phe)
c.9411G>C (p.Leu3137Phe)
c.9402G>C (p.Leu3134Phe)
c.8898G>C (p.Leu2966Phe)
c.8829G>C (p.Leu2943Phe)
c.3615G>C (p.Leu1205Phe)
c.9465G>C (p.Leu3155Phe)
c.9345G>C (p.Leu3115Phe)
c.9276G>C (p.Leu3092Phe)
c.7680G>C (p.Leu2560Phe)
n.9816G>C
6g.51748076C>TCA450613420PKHD1c.9540G>A (p.Leu3180=)
c.9411G>A (p.Leu3137=)
c.9402G>A (p.Leu3134=)
c.8898G>A (p.Leu2966=)
c.8829G>A (p.Leu2943=)
c.3615G>A (p.Leu1205=)
c.9465G>A (p.Leu3155=)
c.9345G>A (p.Leu3115=)
c.9276G>A (p.Leu3092=)
c.7680G>A (p.Leu2560=)
n.9816G>A
6g.51748077A>CCA364420843PKHD1c.9539T>G (p.Leu3180Trp)
c.9410T>G (p.Leu3137Trp)
c.9401T>G (p.Leu3134Trp)
c.8897T>G (p.Leu2966Trp)
c.8828T>G (p.Leu2943Trp)
c.3614T>G (p.Leu1205Trp)
c.9464T>G (p.Leu3155Trp)
c.9344T>G (p.Leu3115Trp)
c.9275T>G (p.Leu3092Trp)
c.7679T>G (p.Leu2560Trp)
n.9815T>G
6g.51748077A>GCA364420844PKHD1c.9539T>C (p.Leu3180Ser)
c.9410T>C (p.Leu3137Ser)
c.9401T>C (p.Leu3134Ser)
c.8897T>C (p.Leu2966Ser)
c.8828T>C (p.Leu2943Ser)
c.3614T>C (p.Leu1205Ser)
c.9464T>C (p.Leu3155Ser)
c.9344T>C (p.Leu3115Ser)
c.9275T>C (p.Leu3092Ser)
c.7679T>C (p.Leu2560Ser)
n.9815T>C
6g.51748077A>TCA364420845PKHD1c.9539T>A (p.Leu3180Ter)
c.9410T>A (p.Leu3137Ter)
c.9401T>A (p.Leu3134Ter)
c.8897T>A (p.Leu2966Ter)
c.8828T>A (p.Leu2943Ter)
c.3614T>A (p.Leu1205Ter)
c.9464T>A (p.Leu3155Ter)
c.9344T>A (p.Leu3115Ter)
c.9275T>A (p.Leu3092Ter)
c.7679T>A (p.Leu2560Ter)
n.9815T>A
6g.51748078A>CCA364420846PKHD1c.9538T>G (p.Leu3180Val)
c.9409T>G (p.Leu3137Val)
c.9400T>G (p.Leu3134Val)
c.8896T>G (p.Leu2966Val)
c.8827T>G (p.Leu2943Val)
c.3613T>G (p.Leu1205Val)
c.9463T>G (p.Leu3155Val)
c.9343T>G (p.Leu3115Val)
c.9274T>G (p.Leu3092Val)
c.7678T>G (p.Leu2560Val)
n.9814T>G
6g.51748078A>GCA450613422PKHD1c.9538T>C (p.Leu3180=)
c.9409T>C (p.Leu3137=)
c.9400T>C (p.Leu3134=)
c.8896T>C (p.Leu2966=)
c.8827T>C (p.Leu2943=)
c.3613T>C (p.Leu1205=)
c.9463T>C (p.Leu3155=)
c.9343T>C (p.Leu3115=)
c.9274T>C (p.Leu3092=)
c.7678T>C (p.Leu2560=)
n.9814T>C
6g.51748078A>TCA364420847PKHD1c.9538T>A (p.Leu3180Met)
c.9409T>A (p.Leu3137Met)
c.9400T>A (p.Leu3134Met)
c.8896T>A (p.Leu2966Met)
c.8827T>A (p.Leu2943Met)
c.3613T>A (p.Leu1205Met)
c.9463T>A (p.Leu3155Met)
c.9343T>A (p.Leu3115Met)
c.9274T>A (p.Leu3092Met)
c.7678T>A (p.Leu2560Met)
n.9814T>A
6g.51748079A>CCA450613423PKHD1c.9537T>G (p.Leu3179=)
c.9408T>G (p.Leu3136=)
c.9399T>G (p.Leu3133=)
c.8895T>G (p.Leu2965=)
c.8826T>G (p.Leu2942=)
c.3612T>G (p.Leu1204=)
c.9462T>G (p.Leu3154=)
c.9342T>G (p.Leu3114=)
c.9273T>G (p.Leu3091=)
c.7677T>G (p.Leu2559=)
n.9813T>G
6g.51748079A>GCA450613424PKHD1c.9537T>C (p.Leu3179=)
c.9408T>C (p.Leu3136=)
c.9399T>C (p.Leu3133=)
c.8895T>C (p.Leu2965=)
c.8826T>C (p.Leu2942=)
c.3612T>C (p.Leu1204=)
c.9462T>C (p.Leu3154=)
c.9342T>C (p.Leu3114=)
c.9273T>C (p.Leu3091=)
c.7677T>C (p.Leu2559=)
n.9813T>C
 ClinVar dbSNP
6g.51748079A>TCA450613425PKHD1c.9537T>A (p.Leu3179=)
c.9408T>A (p.Leu3136=)
c.9399T>A (p.Leu3133=)
c.8895T>A (p.Leu2965=)
c.8826T>A (p.Leu2942=)
c.3612T>A (p.Leu1204=)
c.9462T>A (p.Leu3154=)
c.9342T>A (p.Leu3114=)
c.9273T>A (p.Leu3091=)
c.7677T>A (p.Leu2559=)
n.9813T>A
6g.51748080A>CCA364420850PKHD1c.9536T>G (p.Leu3179Arg)
c.9407T>G (p.Leu3136Arg)
c.9398T>G (p.Leu3133Arg)
c.8894T>G (p.Leu2965Arg)
c.8825T>G (p.Leu2942Arg)
c.3611T>G (p.Leu1204Arg)
c.9461T>G (p.Leu3154Arg)
c.9341T>G (p.Leu3114Arg)
c.9272T>G (p.Leu3091Arg)
c.7676T>G (p.Leu2559Arg)
n.9812T>G
6g.51748080A>GCA364420849PKHD1c.9536T>C (p.Leu3179Pro)
c.9407T>C (p.Leu3136Pro)
c.9398T>C (p.Leu3133Pro)
c.8894T>C (p.Leu2965Pro)
c.8825T>C (p.Leu2942Pro)
c.3611T>C (p.Leu1204Pro)
c.9461T>C (p.Leu3154Pro)
c.9341T>C (p.Leu3114Pro)
c.9272T>C (p.Leu3091Pro)
c.7676T>C (p.Leu2559Pro)
n.9812T>C
6g.51748080A>TCA364420848PKHD1c.9536T>A (p.Leu3179His)
c.9407T>A (p.Leu3136His)
c.9398T>A (p.Leu3133His)
c.8894T>A (p.Leu2965His)
c.8825T>A (p.Leu2942His)
c.3611T>A (p.Leu1204His)
c.9461T>A (p.Leu3154His)
c.9341T>A (p.Leu3114His)
c.9272T>A (p.Leu3091His)
c.7676T>A (p.Leu2559His)
n.9812T>A
6g.51748081G>ACA138896103PKHD1c.9535C>T (p.Leu3179Phe)
c.9406C>T (p.Leu3136Phe)
c.9397C>T (p.Leu3133Phe)
c.8893C>T (p.Leu2965Phe)
c.8824C>T (p.Leu2942Phe)
c.3610C>T (p.Leu1204Phe)
c.9460C>T (p.Leu3154Phe)
c.9340C>T (p.Leu3114Phe)
c.9271C>T (p.Leu3091Phe)
c.7675C>T (p.Leu2559Phe)
n.9811C>T
 dbSNP gnomAD v4
6g.51748081G>CCA364420851PKHD1c.9535C>G (p.Leu3179Val)
c.9406C>G (p.Leu3136Val)
c.9397C>G (p.Leu3133Val)
c.8893C>G (p.Leu2965Val)
c.8824C>G (p.Leu2942Val)
c.3610C>G (p.Leu1204Val)
c.9460C>G (p.Leu3154Val)
c.9340C>G (p.Leu3114Val)
c.9271C>G (p.Leu3091Val)
c.7675C>G (p.Leu2559Val)
n.9811C>G
 dbSNP gnomAD v3 gnomAD v4
6g.51748081G=CA1628502465PKHD1c.9535C= (p.Leu3179=)
c.9406C= (p.Leu3136=)
c.9397C= (p.Leu3133=)
c.8893C= (p.Leu2965=)
c.8824C= (p.Leu2942=)
c.3610C= (p.Leu1204=)
c.9460C= (p.Leu3154=)
c.9340C= (p.Leu3114=)
c.9271C= (p.Leu3091=)
c.7675C= (p.Leu2559=)
n.9811C=
6g.51748081G>TCA364420852PKHD1c.9535C>A (p.Leu3179Ile)
c.9406C>A (p.Leu3136Ile)
c.9397C>A (p.Leu3133Ile)
c.8893C>A (p.Leu2965Ile)
c.8824C>A (p.Leu2942Ile)
c.3610C>A (p.Leu1204Ile)
c.9460C>A (p.Leu3154Ile)
c.9340C>A (p.Leu3114Ile)
c.9271C>A (p.Leu3091Ile)
c.7675C>A (p.Leu2559Ile)
n.9811C>A
6g.51748082A>CCA450613429PKHD1c.9534T>G (p.Gly3178=)
c.9405T>G (p.Gly3135=)
c.9396T>G (p.Gly3132=)
c.8892T>G (p.Gly2964=)
c.8823T>G (p.Gly2941=)
c.3609T>G (p.Gly1203=)
c.9459T>G (p.Gly3153=)
c.9339T>G (p.Gly3113=)
c.9270T>G (p.Gly3090=)
c.7674T>G (p.Gly2558=)
n.9810T>G
6g.51748082A>GCA450613426PKHD1c.9534T>C (p.Gly3178=)
c.9405T>C (p.Gly3135=)
c.9396T>C (p.Gly3132=)
c.8892T>C (p.Gly2964=)
c.8823T>C (p.Gly2941=)
c.3609T>C (p.Gly1203=)
c.9459T>C (p.Gly3153=)
c.9339T>C (p.Gly3113=)
c.9270T>C (p.Gly3090=)
c.7674T>C (p.Gly2558=)
n.9810T>C
6g.51748082A>TCA450613428PKHD1c.9534T>A (p.Gly3178=)
c.9405T>A (p.Gly3135=)
c.9396T>A (p.Gly3132=)
c.8892T>A (p.Gly2964=)
c.8823T>A (p.Gly2941=)
c.3609T>A (p.Gly1203=)
c.9459T>A (p.Gly3153=)
c.9339T>A (p.Gly3113=)
c.9270T>A (p.Gly3090=)
c.7674T>A (p.Gly2558=)
n.9810T>A
6g.51748083C>ACA364420853PKHD1c.9533G>T (p.Gly3178Val)
c.9404G>T (p.Gly3135Val)
c.9395G>T (p.Gly3132Val)
c.8891G>T (p.Gly2964Val)
c.8822G>T (p.Gly2941Val)
c.3608G>T (p.Gly1203Val)
c.9458G>T (p.Gly3153Val)
c.9338G>T (p.Gly3113Val)
c.9269G>T (p.Gly3090Val)
c.7673G>T (p.Gly2558Val)
n.9809G>T
 dbSNP
6g.51748083C=CA1628502470PKHD1c.9533G= (p.Gly3178=)
c.9404G= (p.Gly3135=)
c.9395G= (p.Gly3132=)
c.8891G= (p.Gly2964=)
c.8822G= (p.Gly2941=)
c.3608G= (p.Gly1203=)
c.9458G= (p.Gly3153=)
c.9338G= (p.Gly3113=)
c.9269G= (p.Gly3090=)
c.7673G= (p.Gly2558=)
n.9809G=
6g.51748083C>GCA364420854PKHD1c.9533G>C (p.Gly3178Ala)
c.9404G>C (p.Gly3135Ala)
c.9395G>C (p.Gly3132Ala)
c.8891G>C (p.Gly2964Ala)
c.8822G>C (p.Gly2941Ala)
c.3608G>C (p.Gly1203Ala)
c.9458G>C (p.Gly3153Ala)
c.9338G>C (p.Gly3113Ala)
c.9269G>C (p.Gly3090Ala)
c.7673G>C (p.Gly2558Ala)
n.9809G>C
6g.51748083C>TCA3851378PKHD1c.9533G>A (p.Gly3178Asp)
c.9404G>A (p.Gly3135Asp)
c.9395G>A (p.Gly3132Asp)
c.8891G>A (p.Gly2964Asp)
c.8822G>A (p.Gly2941Asp)
c.3608G>A (p.Gly1203Asp)
c.9458G>A (p.Gly3153Asp)
c.9338G>A (p.Gly3113Asp)
c.9269G>A (p.Gly3090Asp)
c.7673G>A (p.Gly2558Asp)
n.9809G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748084dupCA913110677PKHD1c.9533dup (p.Leu3179SerfsTer23)
c.9404dup (p.Leu3136SerfsTer23)
c.9395dup (p.Leu3133SerfsTer23)
c.8891dup (p.Leu2965SerfsTer23)
c.8822dup (p.Leu2942SerfsTer23)
c.3608dup (p.Leu1204SerfsTer23)
c.9458dup (p.Leu3154SerfsTer23)
c.9338dup (p.Leu3114SerfsTer23)
c.9269dup (p.Leu3091SerfsTer23)
c.7673dup (p.Leu2559SerfsTer23)
n.9809dup
6g.51748084C>ACA364420855PKHD1c.9532G>T (p.Gly3178Cys)
c.9403G>T (p.Gly3135Cys)
c.9394G>T (p.Gly3132Cys)
c.8890G>T (p.Gly2964Cys)
c.8821G>T (p.Gly2941Cys)
c.3607G>T (p.Gly1203Cys)
c.9457G>T (p.Gly3153Cys)
c.9337G>T (p.Gly3113Cys)
c.9268G>T (p.Gly3090Cys)
c.7672G>T (p.Gly2558Cys)
n.9808G>T
 ClinVar gnomAD v4
6g.51748084C=CA1628502479PKHD1c.9532G= (p.Gly3178=)
c.9403G= (p.Gly3135=)
c.9394G= (p.Gly3132=)
c.8890G= (p.Gly2964=)
c.8821G= (p.Gly2941=)
c.3607G= (p.Gly1203=)
c.9457G= (p.Gly3153=)
c.9337G= (p.Gly3113=)
c.9268G= (p.Gly3090=)
c.7672G= (p.Gly2558=)
n.9808G=
6g.51748084C>GCA364420856PKHD1c.9532G>C (p.Gly3178Arg)
c.9403G>C (p.Gly3135Arg)
c.9394G>C (p.Gly3132Arg)
c.8890G>C (p.Gly2964Arg)
c.8821G>C (p.Gly2941Arg)
c.3607G>C (p.Gly1203Arg)
c.9457G>C (p.Gly3153Arg)
c.9337G>C (p.Gly3113Arg)
c.9268G>C (p.Gly3090Arg)
c.7672G>C (p.Gly2558Arg)
n.9808G>C
6g.51748084C>TCA364420857PKHD1c.9532G>A (p.Gly3178Ser)
c.9403G>A (p.Gly3135Ser)
c.9394G>A (p.Gly3132Ser)
c.8890G>A (p.Gly2964Ser)
c.8821G>A (p.Gly2941Ser)
c.3607G>A (p.Gly1203Ser)
c.9457G>A (p.Gly3153Ser)
c.9337G>A (p.Gly3113Ser)
c.9268G>A (p.Gly3090Ser)
c.7672G>A (p.Gly2558Ser)
n.9808G>A
 gnomAD v4
6g.51748085A>CCA364420858PKHD1c.9531T>G (p.Ile3177Met)
c.9402T>G (p.Ile3134Met)
c.9393T>G (p.Ile3131Met)
c.8889T>G (p.Ile2963Met)
c.8820T>G (p.Ile2940Met)
c.3606T>G (p.Ile1202Met)
c.9456T>G (p.Ile3152Met)
c.9336T>G (p.Ile3112Met)
c.9267T>G (p.Ile3089Met)
c.7671T>G (p.Ile2557Met)
n.9807T>G
6g.51748085A>GCA450613433PKHD1c.9531T>C (p.Ile3177=)
c.9402T>C (p.Ile3134=)
c.9393T>C (p.Ile3131=)
c.8889T>C (p.Ile2963=)
c.8820T>C (p.Ile2940=)
c.3606T>C (p.Ile1202=)
c.9456T>C (p.Ile3152=)
c.9336T>C (p.Ile3112=)
c.9267T>C (p.Ile3089=)
c.7671T>C (p.Ile2557=)
n.9807T>C
6g.51748085A>TCA450613434PKHD1c.9531T>A (p.Ile3177=)
c.9402T>A (p.Ile3134=)
c.9393T>A (p.Ile3131=)
c.8889T>A (p.Ile2963=)
c.8820T>A (p.Ile2940=)
c.3606T>A (p.Ile1202=)
c.9456T>A (p.Ile3152=)
c.9336T>A (p.Ile3112=)
c.9267T>A (p.Ile3089=)
c.7671T>A (p.Ile2557=)
n.9807T>A
6g.51748086dupCA2679078631PKHD1c.9531dup (p.Gly3178TrpfsTer24)
c.9402dup (p.Gly3135TrpfsTer24)
c.9393dup (p.Gly3132TrpfsTer24)
c.8889dup (p.Gly2964TrpfsTer24)
c.8820dup (p.Gly2941TrpfsTer24)
c.3606dup (p.Gly1203TrpfsTer24)
c.9456dup (p.Gly3153TrpfsTer24)
c.9336dup (p.Gly3113TrpfsTer24)
c.9267dup (p.Gly3090TrpfsTer24)
c.7671dup (p.Gly2558TrpfsTer24)
n.9807dup
 gnomAD v4
6g.51748085_51748086dupCA658821795PKHD1c.9530_9531dup (p.Gly3178LeufsTer6)
c.9401_9402dup (p.Gly3135LeufsTer6)
c.9392_9393dup (p.Gly3132LeufsTer6)
c.8888_8889dup (p.Gly2964LeufsTer6)
c.8819_8820dup (p.Gly2941LeufsTer6)
c.3605_3606dup (p.Gly1203LeufsTer6)
c.9455_9456dup (p.Gly3153LeufsTer6)
c.9335_9336dup (p.Gly3113LeufsTer6)
c.9266_9267dup (p.Gly3090LeufsTer6)
c.7670_7671dup (p.Gly2558LeufsTer6)
n.9806_9807dup
 ClinVar dbSNP
6g.51748086A=CA1628502490PKHD1c.9530T= (p.Ile3177=)
c.9401T= (p.Ile3134=)
c.9392T= (p.Ile3131=)
c.8888T= (p.Ile2963=)
c.8819T= (p.Ile2940=)
c.3605T= (p.Ile1202=)
c.9455T= (p.Ile3152=)
c.9335T= (p.Ile3112=)
c.9266T= (p.Ile3089=)
c.7670T= (p.Ile2557=)
n.9806T=
6g.51748086A>CCA364420859PKHD1c.9530T>G (p.Ile3177Ser)
c.9401T>G (p.Ile3134Ser)
c.9392T>G (p.Ile3131Ser)
c.8888T>G (p.Ile2963Ser)
c.8819T>G (p.Ile2940Ser)
c.3605T>G (p.Ile1202Ser)
c.9455T>G (p.Ile3152Ser)
c.9335T>G (p.Ile3112Ser)
c.9266T>G (p.Ile3089Ser)
c.7670T>G (p.Ile2557Ser)
n.9806T>G
6g.51748086A>GCA3851379PKHD1c.9530T>C (p.Ile3177Thr)
c.9401T>C (p.Ile3134Thr)
c.9392T>C (p.Ile3131Thr)
c.8888T>C (p.Ile2963Thr)
c.8819T>C (p.Ile2940Thr)
c.3605T>C (p.Ile1202Thr)
c.9455T>C (p.Ile3152Thr)
c.9335T>C (p.Ile3112Thr)
c.9266T>C (p.Ile3089Thr)
c.7670T>C (p.Ile2557Thr)
n.9806T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748086A>TCA364420860PKHD1c.9530T>A (p.Ile3177Asn)
c.9401T>A (p.Ile3134Asn)
c.9392T>A (p.Ile3131Asn)
c.8888T>A (p.Ile2963Asn)
c.8819T>A (p.Ile2940Asn)
c.3605T>A (p.Ile1202Asn)
c.9455T>A (p.Ile3152Asn)
c.9335T>A (p.Ile3112Asn)
c.9266T>A (p.Ile3089Asn)
c.7670T>A (p.Ile2557Asn)
n.9806T>A
6g.51748087T>ACA364420862PKHD1c.9529A>T (p.Ile3177Phe)
c.9400A>T (p.Ile3134Phe)
c.9391A>T (p.Ile3131Phe)
c.8887A>T (p.Ile2963Phe)
c.8818A>T (p.Ile2940Phe)
c.3604A>T (p.Ile1202Phe)
c.9454A>T (p.Ile3152Phe)
c.9334A>T (p.Ile3112Phe)
c.9265A>T (p.Ile3089Phe)
c.7669A>T (p.Ile2557Phe)
n.9805A>T
 COSMIC
6g.51748087T>CCA3851380PKHD1c.9529A>G (p.Ile3177Val)
c.9400A>G (p.Ile3134Val)
c.9391A>G (p.Ile3131Val)
c.8887A>G (p.Ile2963Val)
c.8818A>G (p.Ile2940Val)
c.3604A>G (p.Ile1202Val)
c.9454A>G (p.Ile3152Val)
c.9334A>G (p.Ile3112Val)
c.9265A>G (p.Ile3089Val)
c.7669A>G (p.Ile2557Val)
n.9805A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.51748087T>GCA364420861PKHD1c.9529A>C (p.Ile3177Leu)
c.9400A>C (p.Ile3134Leu)
c.9391A>C (p.Ile3131Leu)
c.8887A>C (p.Ile2963Leu)
c.8818A>C (p.Ile2940Leu)
c.3604A>C (p.Ile1202Leu)
c.9454A>C (p.Ile3152Leu)
c.9334A>C (p.Ile3112Leu)
c.9265A>C (p.Ile3089Leu)
c.7669A>C (p.Ile2557Leu)
n.9805A>C
6g.51748087T=CA1628502498PKHD1c.9529A= (p.Ile3177=)
c.9400A= (p.Ile3134=)
c.9391A= (p.Ile3131=)
c.8887A= (p.Ile2963=)
c.8818A= (p.Ile2940=)
c.3604A= (p.Ile1202=)
c.9454A= (p.Ile3152=)
c.9334A= (p.Ile3112=)
c.9265A= (p.Ile3089=)
c.7669A= (p.Ile2557=)
n.9805A=
6g.51748088A>CCA450613436PKHD1c.9528T>G (p.Thr3176=)
c.9399T>G (p.Thr3133=)
c.9390T>G (p.Thr3130=)
c.8886T>G (p.Thr2962=)
c.8817T>G (p.Thr2939=)
c.3603T>G (p.Thr1201=)
c.9453T>G (p.Thr3151=)
c.9333T>G (p.Thr3111=)
c.9264T>G (p.Thr3088=)
c.7668T>G (p.Thr2556=)
n.9804T>G
6g.51748088A>GCA450613437PKHD1c.9528T>C (p.Thr3176=)
c.9399T>C (p.Thr3133=)
c.9390T>C (p.Thr3130=)
c.8886T>C (p.Thr2962=)
c.8817T>C (p.Thr2939=)
c.3603T>C (p.Thr1201=)
c.9453T>C (p.Thr3151=)
c.9333T>C (p.Thr3111=)
c.9264T>C (p.Thr3088=)
c.7668T>C (p.Thr2556=)
n.9804T>C
 gnomAD v4
6g.51748088A>TCA450613438PKHD1c.9528T>A (p.Thr3176=)
c.9399T>A (p.Thr3133=)
c.9390T>A (p.Thr3130=)
c.8886T>A (p.Thr2962=)
c.8817T>A (p.Thr2939=)
c.3603T>A (p.Thr1201=)
c.9453T>A (p.Thr3151=)
c.9333T>A (p.Thr3111=)
c.9264T>A (p.Thr3088=)
c.7668T>A (p.Thr2556=)
n.9804T>A
6g.51748089G>ACA364420863PKHD1c.9527C>T (p.Thr3176Ile)
c.9398C>T (p.Thr3133Ile)
c.9389C>T (p.Thr3130Ile)
c.8885C>T (p.Thr2962Ile)
c.8816C>T (p.Thr2939Ile)
c.3602C>T (p.Thr1201Ile)
c.9452C>T (p.Thr3151Ile)
c.9332C>T (p.Thr3111Ile)
c.9263C>T (p.Thr3088Ile)
c.7667C>T (p.Thr2556Ile)
n.9803C>T
6g.51748089G>CCA364420865PKHD1c.9527C>G (p.Thr3176Ser)
c.9398C>G (p.Thr3133Ser)
c.9389C>G (p.Thr3130Ser)
c.8885C>G (p.Thr2962Ser)
c.8816C>G (p.Thr2939Ser)
c.3602C>G (p.Thr1201Ser)
c.9452C>G (p.Thr3151Ser)
c.9332C>G (p.Thr3111Ser)
c.9263C>G (p.Thr3088Ser)
c.7667C>G (p.Thr2556Ser)
n.9803C>G
6g.51748089G>TCA364420864PKHD1c.9527C>A (p.Thr3176Asn)
c.9398C>A (p.Thr3133Asn)
c.9389C>A (p.Thr3130Asn)
c.8885C>A (p.Thr2962Asn)
c.8816C>A (p.Thr2939Asn)
c.3602C>A (p.Thr1201Asn)
c.9452C>A (p.Thr3151Asn)
c.9332C>A (p.Thr3111Asn)
c.9263C>A (p.Thr3088Asn)
c.7667C>A (p.Thr2556Asn)
n.9803C>A
6g.51748090T>ACA364420866PKHD1c.9526A>T (p.Thr3176Ser)
c.9397A>T (p.Thr3133Ser)
c.9388A>T (p.Thr3130Ser)
c.8884A>T (p.Thr2962Ser)
c.8815A>T (p.Thr2939Ser)
c.3601A>T (p.Thr1201Ser)
c.9451A>T (p.Thr3151Ser)
c.9331A>T (p.Thr3111Ser)
c.9262A>T (p.Thr3088Ser)
c.7666A>T (p.Thr2556Ser)
n.9802A>T
6g.51748090T>CCA138896145PKHD1c.9526A>G (p.Thr3176Ala)
c.9397A>G (p.Thr3133Ala)
c.9388A>G (p.Thr3130Ala)
c.8884A>G (p.Thr2962Ala)
c.8815A>G (p.Thr2939Ala)
c.3601A>G (p.Thr1201Ala)
c.9451A>G (p.Thr3151Ala)
c.9331A>G (p.Thr3111Ala)
c.9262A>G (p.Thr3088Ala)
c.7666A>G (p.Thr2556Ala)
n.9802A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748090T>GCA364420867PKHD1c.9526A>C (p.Thr3176Pro)
c.9397A>C (p.Thr3133Pro)
c.9388A>C (p.Thr3130Pro)
c.8884A>C (p.Thr2962Pro)
c.8815A>C (p.Thr2939Pro)
c.3601A>C (p.Thr1201Pro)
c.9451A>C (p.Thr3151Pro)
c.9331A>C (p.Thr3111Pro)
c.9262A>C (p.Thr3088Pro)
c.7666A>C (p.Thr2556Pro)
n.9802A>C
6g.51748090T=CA1628502503PKHD1c.9526A= (p.Thr3176=)
c.9397A= (p.Thr3133=)
c.9388A= (p.Thr3130=)
c.8884A= (p.Thr2962=)
c.8815A= (p.Thr2939=)
c.3601A= (p.Thr1201=)
c.9451A= (p.Thr3151=)
c.9331A= (p.Thr3111=)
c.9262A= (p.Thr3088=)
c.7666A= (p.Thr2556=)
n.9802A=
6g.51748091A>CCA364420868PKHD1c.9525T>G (p.Asn3175Lys)
c.9396T>G (p.Asn3132Lys)
c.9387T>G (p.Asn3129Lys)
c.8883T>G (p.Asn2961Lys)
c.8814T>G (p.Asn2938Lys)
c.3600T>G (p.Asn1200Lys)
c.9450T>G (p.Asn3150Lys)
c.9330T>G (p.Asn3110Lys)
c.9261T>G (p.Asn3087Lys)
c.7665T>G (p.Asn2555Lys)
n.9801T>G
6g.51748091A>GCA450613440PKHD1c.9525T>C (p.Asn3175=)
c.9396T>C (p.Asn3132=)
c.9387T>C (p.Asn3129=)
c.8883T>C (p.Asn2961=)
c.8814T>C (p.Asn2938=)
c.3600T>C (p.Asn1200=)
c.9450T>C (p.Asn3150=)
c.9330T>C (p.Asn3110=)
c.9261T>C (p.Asn3087=)
c.7665T>C (p.Asn2555=)
n.9801T>C
 gnomAD v4
6g.51748091A>TCA364420869PKHD1c.9525T>A (p.Asn3175Lys)
c.9396T>A (p.Asn3132Lys)
c.9387T>A (p.Asn3129Lys)
c.8883T>A (p.Asn2961Lys)
c.8814T>A (p.Asn2938Lys)
c.3600T>A (p.Asn1200Lys)
c.9450T>A (p.Asn3150Lys)
c.9330T>A (p.Asn3110Lys)
c.9261T>A (p.Asn3087Lys)
c.7665T>A (p.Asn2555Lys)
n.9801T>A
 dbSNP
6g.51748092T>ACA364420870PKHD1c.9524A>T (p.Asn3175Ile)
c.9395A>T (p.Asn3132Ile)
c.9386A>T (p.Asn3129Ile)
c.8882A>T (p.Asn2961Ile)
c.8813A>T (p.Asn2938Ile)
c.3599A>T (p.Asn1200Ile)
c.9449A>T (p.Asn3150Ile)
c.9329A>T (p.Asn3110Ile)
c.9260A>T (p.Asn3087Ile)
c.7664A>T (p.Asn2555Ile)
n.9800A>T
6g.51748092T>CCA364420872PKHD1c.9524A>G (p.Asn3175Ser)
c.9395A>G (p.Asn3132Ser)
c.9386A>G (p.Asn3129Ser)
c.8882A>G (p.Asn2961Ser)
c.8813A>G (p.Asn2938Ser)
c.3599A>G (p.Asn1200Ser)
c.9449A>G (p.Asn3150Ser)
c.9329A>G (p.Asn3110Ser)
c.9260A>G (p.Asn3087Ser)
c.7664A>G (p.Asn2555Ser)
n.9800A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748092T>GCA364420871PKHD1c.9524A>C (p.Asn3175Thr)
c.9395A>C (p.Asn3132Thr)
c.9386A>C (p.Asn3129Thr)
c.8882A>C (p.Asn2961Thr)
c.8813A>C (p.Asn2938Thr)
c.3599A>C (p.Asn1200Thr)
c.9449A>C (p.Asn3150Thr)
c.9329A>C (p.Asn3110Thr)
c.9260A>C (p.Asn3087Thr)
c.7664A>C (p.Asn2555Thr)
n.9800A>C
6g.51748092T=CA1628502513PKHD1c.9524A= (p.Asn3175=)
c.9395A= (p.Asn3132=)
c.9386A= (p.Asn3129=)
c.8882A= (p.Asn2961=)
c.8813A= (p.Asn2938=)
c.3599A= (p.Asn1200=)
c.9449A= (p.Asn3150=)
c.9329A= (p.Asn3110=)
c.9260A= (p.Asn3087=)
c.7664A= (p.Asn2555=)
n.9800A=
6g.51748092_51748093delinsCCA2695206427PKHD1c.9523_9524delinsG (p.Asn3175ValfsTer8)
c.9394_9395delinsG (p.Asn3132ValfsTer8)
c.9385_9386delinsG (p.Asn3129ValfsTer8)
c.8881_8882delinsG (p.Asn2961ValfsTer8)
c.8812_8813delinsG (p.Asn2938ValfsTer8)
c.3598_3599delinsG (p.Asn1200ValfsTer8)
c.9448_9449delinsG (p.Asn3150ValfsTer8)
c.9328_9329delinsG (p.Asn3110ValfsTer8)
c.9259_9260delinsG (p.Asn3087ValfsTer8)
c.7663_7664delinsG (p.Asn2555ValfsTer8)
n.9799_9800delinsG
6g.51748093T>ACA364420873PKHD1c.9523A>T (p.Asn3175Tyr)
c.9394A>T (p.Asn3132Tyr)
c.9385A>T (p.Asn3129Tyr)
c.8881A>T (p.Asn2961Tyr)
c.8812A>T (p.Asn2938Tyr)
c.3598A>T (p.Asn1200Tyr)
c.9448A>T (p.Asn3150Tyr)
c.9328A>T (p.Asn3110Tyr)
c.9259A>T (p.Asn3087Tyr)
c.7663A>T (p.Asn2555Tyr)
n.9799A>T
6g.51748093T>CCA364420874PKHD1c.9523A>G (p.Asn3175Asp)
c.9394A>G (p.Asn3132Asp)
c.9385A>G (p.Asn3129Asp)
c.8881A>G (p.Asn2961Asp)
c.8812A>G (p.Asn2938Asp)
c.3598A>G (p.Asn1200Asp)
c.9448A>G (p.Asn3150Asp)
c.9328A>G (p.Asn3110Asp)
c.9259A>G (p.Asn3087Asp)
c.7663A>G (p.Asn2555Asp)
n.9799A>G
6g.51748093T>GCA364420875PKHD1c.9523A>C (p.Asn3175His)
c.9394A>C (p.Asn3132His)
c.9385A>C (p.Asn3129His)
c.8881A>C (p.Asn2961His)
c.8812A>C (p.Asn2938His)
c.3598A>C (p.Asn1200His)
c.9448A>C (p.Asn3150His)
c.9328A>C (p.Asn3110His)
c.9259A>C (p.Asn3087His)
c.7663A>C (p.Asn2555His)
n.9799A>C
6g.51748094G>ACA450613441PKHD1c.9522C>T (p.Asp3174=)
c.9393C>T (p.Asp3131=)
c.9384C>T (p.Asp3128=)
c.8880C>T (p.Asp2960=)
c.8811C>T (p.Asp2937=)
c.3597C>T (p.Asp1199=)
c.9447C>T (p.Asp3149=)
c.9327C>T (p.Asp3109=)
c.9258C>T (p.Asp3086=)
c.7662C>T (p.Asp2554=)
n.9798C>T
 ClinVar dbSNP
6g.51748094G>CCA364420876PKHD1c.9522C>G (p.Asp3174Glu)
c.9393C>G (p.Asp3131Glu)
c.9384C>G (p.Asp3128Glu)
c.8880C>G (p.Asp2960Glu)
c.8811C>G (p.Asp2937Glu)
c.3597C>G (p.Asp1199Glu)
c.9447C>G (p.Asp3149Glu)
c.9327C>G (p.Asp3109Glu)
c.9258C>G (p.Asp3086Glu)
c.7662C>G (p.Asp2554Glu)
n.9798C>G
 gnomAD v4
6g.51748094G=CA1628502518PKHD1c.9522C= (p.Asp3174=)
c.9393C= (p.Asp3131=)
c.9384C= (p.Asp3128=)
c.8880C= (p.Asp2960=)
c.8811C= (p.Asp2937=)
c.3597C= (p.Asp1199=)
c.9447C= (p.Asp3149=)
c.9327C= (p.Asp3109=)
c.9258C= (p.Asp3086=)
c.7662C= (p.Asp2554=)
n.9798C=
6g.51748094G>TCA364420877PKHD1c.9522C>A (p.Asp3174Glu)
c.9393C>A (p.Asp3131Glu)
c.9384C>A (p.Asp3128Glu)
c.8880C>A (p.Asp2960Glu)
c.8811C>A (p.Asp2937Glu)
c.3597C>A (p.Asp1199Glu)
c.9447C>A (p.Asp3149Glu)
c.9327C>A (p.Asp3109Glu)
c.9258C>A (p.Asp3086Glu)
c.7662C>A (p.Asp2554Glu)
n.9798C>A
6g.51748095T>ACA364420878PKHD1c.9521A>T (p.Asp3174Val)
c.9392A>T (p.Asp3131Val)
c.9383A>T (p.Asp3128Val)
c.8879A>T (p.Asp2960Val)
c.8810A>T (p.Asp2937Val)
c.3596A>T (p.Asp1199Val)
c.9446A>T (p.Asp3149Val)
c.9326A>T (p.Asp3109Val)
c.9257A>T (p.Asp3086Val)
c.7661A>T (p.Asp2554Val)
n.9797A>T
 dbSNP
6g.51748095T>CCA364420879PKHD1c.9521A>G (p.Asp3174Gly)
c.9392A>G (p.Asp3131Gly)
c.9383A>G (p.Asp3128Gly)
c.8879A>G (p.Asp2960Gly)
c.8810A>G (p.Asp2937Gly)
c.3596A>G (p.Asp1199Gly)
c.9446A>G (p.Asp3149Gly)
c.9326A>G (p.Asp3109Gly)
c.9257A>G (p.Asp3086Gly)
c.7661A>G (p.Asp2554Gly)
n.9797A>G
6g.51748095T>GCA364420880PKHD1c.9521A>C (p.Asp3174Ala)
c.9392A>C (p.Asp3131Ala)
c.9383A>C (p.Asp3128Ala)
c.8879A>C (p.Asp2960Ala)
c.8810A>C (p.Asp2937Ala)
c.3596A>C (p.Asp1199Ala)
c.9446A>C (p.Asp3149Ala)
c.9326A>C (p.Asp3109Ala)
c.9257A>C (p.Asp3086Ala)
c.7661A>C (p.Asp2554Ala)
n.9797A>C
6g.51748095T=CA1628502522PKHD1c.9521A= (p.Asp3174=)
c.9392A= (p.Asp3131=)
c.9383A= (p.Asp3128=)
c.8879A= (p.Asp2960=)
c.8810A= (p.Asp2937=)
c.3596A= (p.Asp1199=)
c.9446A= (p.Asp3149=)
c.9326A= (p.Asp3109=)
c.9257A= (p.Asp3086=)
c.7661A= (p.Asp2554=)
n.9797A=
6g.51748096C>ACA364420881PKHD1c.9520G>T (p.Asp3174Tyr)
c.9391G>T (p.Asp3131Tyr)
c.9382G>T (p.Asp3128Tyr)
c.8878G>T (p.Asp2960Tyr)
c.8809G>T (p.Asp2937Tyr)
c.3595G>T (p.Asp1199Tyr)
c.9445G>T (p.Asp3149Tyr)
c.9325G>T (p.Asp3109Tyr)
c.9256G>T (p.Asp3086Tyr)
c.7660G>T (p.Asp2554Tyr)
n.9796G>T
6g.51748096C>GCA364420882PKHD1c.9520G>C (p.Asp3174His)
c.9391G>C (p.Asp3131His)
c.9382G>C (p.Asp3128His)
c.8878G>C (p.Asp2960His)
c.8809G>C (p.Asp2937His)
c.3595G>C (p.Asp1199His)
c.9445G>C (p.Asp3149His)
c.9325G>C (p.Asp3109His)
c.9256G>C (p.Asp3086His)
c.7660G>C (p.Asp2554His)
n.9796G>C
6g.51748096C>TCA364420883PKHD1c.9520G>A (p.Asp3174Asn)
c.9391G>A (p.Asp3131Asn)
c.9382G>A (p.Asp3128Asn)
c.8878G>A (p.Asp2960Asn)
c.8809G>A (p.Asp2937Asn)
c.3595G>A (p.Asp1199Asn)
c.9445G>A (p.Asp3149Asn)
c.9325G>A (p.Asp3109Asn)
c.9256G>A (p.Asp3086Asn)
c.7660G>A (p.Asp2554Asn)
n.9796G>A
6g.51748097T>ACA450613444PKHD1c.9519A>T (p.Val3173=)
c.9390A>T (p.Val3130=)
c.9381A>T (p.Val3127=)
c.8877A>T (p.Val2959=)
c.8808A>T (p.Val2936=)
c.3594A>T (p.Val1198=)
c.9444A>T (p.Val3148=)
c.9324A>T (p.Val3108=)
c.9255A>T (p.Val3085=)
c.7659A>T (p.Val2553=)
n.9795A>T
6g.51748097T>CCA450613445PKHD1c.9519A>G (p.Val3173=)
c.9390A>G (p.Val3130=)
c.9381A>G (p.Val3127=)
c.8877A>G (p.Val2959=)
c.8808A>G (p.Val2936=)
c.3594A>G (p.Val1198=)
c.9444A>G (p.Val3148=)
c.9324A>G (p.Val3108=)
c.9255A>G (p.Val3085=)
c.7659A>G (p.Val2553=)
n.9795A>G
6g.51748097T>GCA450613446PKHD1c.9519A>C (p.Val3173=)
c.9390A>C (p.Val3130=)
c.9381A>C (p.Val3127=)
c.8877A>C (p.Val2959=)
c.8808A>C (p.Val2936=)
c.3594A>C (p.Val1198=)
c.9444A>C (p.Val3148=)
c.9324A>C (p.Val3108=)
c.9255A>C (p.Val3085=)
c.7659A>C (p.Val2553=)
n.9795A>C
6g.51748098A>CCA364420884PKHD1c.9518T>G (p.Val3173Gly)
c.9389T>G (p.Val3130Gly)
c.9380T>G (p.Val3127Gly)
c.8876T>G (p.Val2959Gly)
c.8807T>G (p.Val2936Gly)
c.3593T>G (p.Val1198Gly)
c.9443T>G (p.Val3148Gly)
c.9323T>G (p.Val3108Gly)
c.9254T>G (p.Val3085Gly)
c.7658T>G (p.Val2553Gly)
n.9794T>G
6g.51748098A>GCA364420886PKHD1c.9518T>C (p.Val3173Ala)
c.9389T>C (p.Val3130Ala)
c.9380T>C (p.Val3127Ala)
c.8876T>C (p.Val2959Ala)
c.8807T>C (p.Val2936Ala)
c.3593T>C (p.Val1198Ala)
c.9443T>C (p.Val3148Ala)
c.9323T>C (p.Val3108Ala)
c.9254T>C (p.Val3085Ala)
c.7658T>C (p.Val2553Ala)
n.9794T>C
6g.51748098A>TCA364420885PKHD1c.9518T>A (p.Val3173Glu)
c.9389T>A (p.Val3130Glu)
c.9380T>A (p.Val3127Glu)
c.8876T>A (p.Val2959Glu)
c.8807T>A (p.Val2936Glu)
c.3593T>A (p.Val1198Glu)
c.9443T>A (p.Val3148Glu)
c.9323T>A (p.Val3108Glu)
c.9254T>A (p.Val3085Glu)
c.7658T>A (p.Val2553Glu)
n.9794T>A
6g.51748099C>ACA364420887PKHD1c.9517G>T (p.Val3173Leu)
c.9388G>T (p.Val3130Leu)
c.9379G>T (p.Val3127Leu)
c.8875G>T (p.Val2959Leu)
c.8806G>T (p.Val2936Leu)
c.3592G>T (p.Val1198Leu)
c.9442G>T (p.Val3148Leu)
c.9322G>T (p.Val3108Leu)
c.9253G>T (p.Val3085Leu)
c.7657G>T (p.Val2553Leu)
n.9793G>T
 dbSNP gnomAD v2 gnomAD v4
6g.51748099C=CA1628502528PKHD1c.9517G= (p.Val3173=)
c.9388G= (p.Val3130=)
c.9379G= (p.Val3127=)
c.8875G= (p.Val2959=)
c.8806G= (p.Val2936=)
c.3592G= (p.Val1198=)
c.9442G= (p.Val3148=)
c.9322G= (p.Val3108=)
c.9253G= (p.Val3085=)
c.7657G= (p.Val2553=)
n.9793G=
6g.51748099C>GCA364420888PKHD1c.9517G>C (p.Val3173Leu)
c.9388G>C (p.Val3130Leu)
c.9379G>C (p.Val3127Leu)
c.8875G>C (p.Val2959Leu)
c.8806G>C (p.Val2936Leu)
c.3592G>C (p.Val1198Leu)
c.9442G>C (p.Val3148Leu)
c.9322G>C (p.Val3108Leu)
c.9253G>C (p.Val3085Leu)
c.7657G>C (p.Val2553Leu)
n.9793G>C
6g.51748099C>TCA364420889PKHD1c.9517G>A (p.Val3173Ile)
c.9388G>A (p.Val3130Ile)
c.9379G>A (p.Val3127Ile)
c.8875G>A (p.Val2959Ile)
c.8806G>A (p.Val2936Ile)
c.3592G>A (p.Val1198Ile)
c.9442G>A (p.Val3148Ile)
c.9322G>A (p.Val3108Ile)
c.9253G>A (p.Val3085Ile)
c.7657G>A (p.Val2553Ile)
n.9793G>A
 dbSNP gnomAD v2 gnomAD v4
6g.51748100C>ACA450613448PKHD1c.9516G>T (p.Leu3172=)
c.9387G>T (p.Leu3129=)
c.9378G>T (p.Leu3126=)
c.8874G>T (p.Leu2958=)
c.8805G>T (p.Leu2935=)
c.3591G>T (p.Leu1197=)
c.9441G>T (p.Leu3147=)
c.9321G>T (p.Leu3107=)
c.9252G>T (p.Leu3084=)
c.7656G>T (p.Leu2552=)
n.9792G>T
6g.51748100C=CA1628502533PKHD1c.9516G= (p.Leu3172=)
c.9387G= (p.Leu3129=)
c.9378G= (p.Leu3126=)
c.8874G= (p.Leu2958=)
c.8805G= (p.Leu2935=)
c.3591G= (p.Leu1197=)
c.9441G= (p.Leu3147=)
c.9321G= (p.Leu3107=)
c.9252G= (p.Leu3084=)
c.7656G= (p.Leu2552=)
n.9792G=
6g.51748100C>GCA450613449PKHD1c.9516G>C (p.Leu3172=)
c.9387G>C (p.Leu3129=)
c.9378G>C (p.Leu3126=)
c.8874G>C (p.Leu2958=)
c.8805G>C (p.Leu2935=)
c.3591G>C (p.Leu1197=)
c.9441G>C (p.Leu3147=)
c.9321G>C (p.Leu3107=)
c.9252G>C (p.Leu3084=)
c.7656G>C (p.Leu2552=)
n.9792G>C
 dbSNP gnomAD v2 gnomAD v4
6g.51748100C>TCA450613450PKHD1c.9516G>A (p.Leu3172=)
c.9387G>A (p.Leu3129=)
c.9378G>A (p.Leu3126=)
c.8874G>A (p.Leu2958=)
c.8805G>A (p.Leu2935=)
c.3591G>A (p.Leu1197=)
c.9441G>A (p.Leu3147=)
c.9321G>A (p.Leu3107=)
c.9252G>A (p.Leu3084=)
c.7656G>A (p.Leu2552=)
n.9792G>A
 gnomAD v4
6g.51748101A>CCA364420890PKHD1c.9515T>G (p.Leu3172Arg)
c.9386T>G (p.Leu3129Arg)
c.9377T>G (p.Leu3126Arg)
c.8873T>G (p.Leu2958Arg)
c.8804T>G (p.Leu2935Arg)
c.3590T>G (p.Leu1197Arg)
c.9440T>G (p.Leu3147Arg)
c.9320T>G (p.Leu3107Arg)
c.9251T>G (p.Leu3084Arg)
c.7655T>G (p.Leu2552Arg)
n.9791T>G
6g.51748101A>GCA364420891PKHD1c.9515T>C (p.Leu3172Pro)
c.9386T>C (p.Leu3129Pro)
c.9377T>C (p.Leu3126Pro)
c.8873T>C (p.Leu2958Pro)
c.8804T>C (p.Leu2935Pro)
c.3590T>C (p.Leu1197Pro)
c.9440T>C (p.Leu3147Pro)
c.9320T>C (p.Leu3107Pro)
c.9251T>C (p.Leu3084Pro)
c.7655T>C (p.Leu2552Pro)
n.9791T>C
6g.51748101A>TCA364420892PKHD1c.9515T>A (p.Leu3172Gln)
c.9386T>A (p.Leu3129Gln)
c.9377T>A (p.Leu3126Gln)
c.8873T>A (p.Leu2958Gln)
c.8804T>A (p.Leu2935Gln)
c.3590T>A (p.Leu1197Gln)
c.9440T>A (p.Leu3147Gln)
c.9320T>A (p.Leu3107Gln)
c.9251T>A (p.Leu3084Gln)
c.7655T>A (p.Leu2552Gln)
n.9791T>A
6g.51748102delCA2679078632PKHD1c.9514del (p.Leu3172TrpfsTer2)
c.9385del (p.Leu3129TrpfsTer2)
c.9376del (p.Leu3126TrpfsTer2)
c.8872del (p.Leu2958TrpfsTer2)
c.8803del (p.Leu2935TrpfsTer2)
c.3589del (p.Leu1197TrpfsTer2)
c.9439del (p.Leu3147TrpfsTer2)
c.9319del (p.Leu3107TrpfsTer2)
c.9250del (p.Leu3084TrpfsTer2)
c.7654del (p.Leu2552TrpfsTer2)
n.9790del
 gnomAD v4
6g.51748102G>ACA450613451PKHD1c.9514C>T (p.Leu3172=)
c.9385C>T (p.Leu3129=)
c.9376C>T (p.Leu3126=)
c.8872C>T (p.Leu2958=)
c.8803C>T (p.Leu2935=)
c.3589C>T (p.Leu1197=)
c.9439C>T (p.Leu3147=)
c.9319C>T (p.Leu3107=)
c.9250C>T (p.Leu3084=)
c.7654C>T (p.Leu2552=)
n.9790C>T
6g.51748102G>CCA364420893PKHD1c.9514C>G (p.Leu3172Val)
c.9385C>G (p.Leu3129Val)
c.9376C>G (p.Leu3126Val)
c.8872C>G (p.Leu2958Val)
c.8803C>G (p.Leu2935Val)
c.3589C>G (p.Leu1197Val)
c.9439C>G (p.Leu3147Val)
c.9319C>G (p.Leu3107Val)
c.9250C>G (p.Leu3084Val)
c.7654C>G (p.Leu2552Val)
n.9790C>G
6g.51748102G>TCA364420894PKHD1c.9514C>A (p.Leu3172Met)
c.9385C>A (p.Leu3129Met)
c.9376C>A (p.Leu3126Met)
c.8872C>A (p.Leu2958Met)
c.8803C>A (p.Leu2935Met)
c.3589C>A (p.Leu1197Met)
c.9439C>A (p.Leu3147Met)
c.9319C>A (p.Leu3107Met)
c.9250C>A (p.Leu3084Met)
c.7654C>A (p.Leu2552Met)
n.9790C>A
6g.51748103A>CCA450613453PKHD1c.9513T>G (p.Thr3171=)
c.9384T>G (p.Thr3128=)
c.9375T>G (p.Thr3125=)
c.8871T>G (p.Thr2957=)
c.8802T>G (p.Thr2934=)
c.3588T>G (p.Thr1196=)
c.9438T>G (p.Thr3146=)
c.9318T>G (p.Thr3106=)
c.9249T>G (p.Thr3083=)
c.7653T>G (p.Thr2551=)
n.9789T>G
6g.51748103A>GCA450613455PKHD1c.9513T>C (p.Thr3171=)
c.9384T>C (p.Thr3128=)
c.9375T>C (p.Thr3125=)
c.8871T>C (p.Thr2957=)
c.8802T>C (p.Thr2934=)
c.3588T>C (p.Thr1196=)
c.9438T>C (p.Thr3146=)
c.9318T>C (p.Thr3106=)
c.9249T>C (p.Thr3083=)
c.7653T>C (p.Thr2551=)
n.9789T>C
 ClinVar gnomAD v4
6g.51748103A>TCA450613454PKHD1c.9513T>A (p.Thr3171=)
c.9384T>A (p.Thr3128=)
c.9375T>A (p.Thr3125=)
c.8871T>A (p.Thr2957=)
c.8802T>A (p.Thr2934=)
c.3588T>A (p.Thr1196=)
c.9438T>A (p.Thr3146=)
c.9318T>A (p.Thr3106=)
c.9249T>A (p.Thr3083=)
c.7653T>A (p.Thr2551=)
n.9789T>A
6g.51748104G>ACA364420896PKHD1c.9512C>T (p.Thr3171Ile)
c.9383C>T (p.Thr3128Ile)
c.9374C>T (p.Thr3125Ile)
c.8870C>T (p.Thr2957Ile)
c.8801C>T (p.Thr2934Ile)
c.3587C>T (p.Thr1196Ile)
c.9437C>T (p.Thr3146Ile)
c.9317C>T (p.Thr3106Ile)
c.9248C>T (p.Thr3083Ile)
c.7652C>T (p.Thr2551Ile)
n.9788C>T
 gnomAD v4
6g.51748104G>CCA364420897PKHD1c.9512C>G (p.Thr3171Ser)
c.9383C>G (p.Thr3128Ser)
c.9374C>G (p.Thr3125Ser)
c.8870C>G (p.Thr2957Ser)
c.8801C>G (p.Thr2934Ser)
c.3587C>G (p.Thr1196Ser)
c.9437C>G (p.Thr3146Ser)
c.9317C>G (p.Thr3106Ser)
c.9248C>G (p.Thr3083Ser)
c.7652C>G (p.Thr2551Ser)
n.9788C>G
6g.51748104G>TCA364420895PKHD1c.9512C>A (p.Thr3171Asn)
c.9383C>A (p.Thr3128Asn)
c.9374C>A (p.Thr3125Asn)
c.8870C>A (p.Thr2957Asn)
c.8801C>A (p.Thr2934Asn)
c.3587C>A (p.Thr1196Asn)
c.9437C>A (p.Thr3146Asn)
c.9317C>A (p.Thr3106Asn)
c.9248C>A (p.Thr3083Asn)
c.7652C>A (p.Thr2551Asn)
n.9788C>A
6g.51748105T>ACA364420898PKHD1c.9511A>T (p.Thr3171Ser)
c.9382A>T (p.Thr3128Ser)
c.9373A>T (p.Thr3125Ser)
c.8869A>T (p.Thr2957Ser)
c.8800A>T (p.Thr2934Ser)
c.3586A>T (p.Thr1196Ser)
c.9436A>T (p.Thr3146Ser)
c.9316A>T (p.Thr3106Ser)
c.9247A>T (p.Thr3083Ser)
c.7651A>T (p.Thr2551Ser)
n.9787A>T
6g.51748105T>CCA364420899PKHD1c.9511A>G (p.Thr3171Ala)
c.9382A>G (p.Thr3128Ala)
c.9373A>G (p.Thr3125Ala)
c.8869A>G (p.Thr2957Ala)
c.8800A>G (p.Thr2934Ala)
c.3586A>G (p.Thr1196Ala)
c.9436A>G (p.Thr3146Ala)
c.9316A>G (p.Thr3106Ala)
c.9247A>G (p.Thr3083Ala)
c.7651A>G (p.Thr2551Ala)
n.9787A>G
6g.51748105T>GCA364420900PKHD1c.9511A>C (p.Thr3171Pro)
c.9382A>C (p.Thr3128Pro)
c.9373A>C (p.Thr3125Pro)
c.8869A>C (p.Thr2957Pro)
c.8800A>C (p.Thr2934Pro)
c.3586A>C (p.Thr1196Pro)
c.9436A>C (p.Thr3146Pro)
c.9316A>C (p.Thr3106Pro)
c.9247A>C (p.Thr3083Pro)
c.7651A>C (p.Thr2551Pro)
n.9787A>C
6g.51748106A>CCA364420901PKHD1c.9510T>G (p.Ile3170Met)
c.9381T>G (p.Ile3127Met)
c.9372T>G (p.Ile3124Met)
c.8868T>G (p.Ile2956Met)
c.8799T>G (p.Ile2933Met)
c.3585T>G (p.Ile1195Met)
c.9435T>G (p.Ile3145Met)
c.9315T>G (p.Ile3105Met)
c.9246T>G (p.Ile3082Met)
c.7650T>G (p.Ile2550Met)
n.9786T>G
6g.51748106A>GCA450613459PKHD1c.9510T>C (p.Ile3170=)
c.9381T>C (p.Ile3127=)
c.9372T>C (p.Ile3124=)
c.8868T>C (p.Ile2956=)
c.8799T>C (p.Ile2933=)
c.3585T>C (p.Ile1195=)
c.9435T>C (p.Ile3145=)
c.9315T>C (p.Ile3105=)
c.9246T>C (p.Ile3082=)
c.7650T>C (p.Ile2550=)
n.9786T>C
6g.51748106A>TCA450613460PKHD1c.9510T>A (p.Ile3170=)
c.9381T>A (p.Ile3127=)
c.9372T>A (p.Ile3124=)
c.8868T>A (p.Ile2956=)
c.8799T>A (p.Ile2933=)
c.3585T>A (p.Ile1195=)
c.9435T>A (p.Ile3145=)
c.9315T>A (p.Ile3105=)
c.9246T>A (p.Ile3082=)
c.7650T>A (p.Ile2550=)
n.9786T>A
6g.51748107A>CCA364420902PKHD1c.9509T>G (p.Ile3170Ser)
c.9380T>G (p.Ile3127Ser)
c.9371T>G (p.Ile3124Ser)
c.8867T>G (p.Ile2956Ser)
c.8798T>G (p.Ile2933Ser)
c.3584T>G (p.Ile1195Ser)
c.9434T>G (p.Ile3145Ser)
c.9314T>G (p.Ile3105Ser)
c.9245T>G (p.Ile3082Ser)
c.7649T>G (p.Ile2550Ser)
n.9785T>G
6g.51748107A>GCA364420903PKHD1c.9509T>C (p.Ile3170Thr)
c.9380T>C (p.Ile3127Thr)
c.9371T>C (p.Ile3124Thr)
c.8867T>C (p.Ile2956Thr)
c.8798T>C (p.Ile2933Thr)
c.3584T>C (p.Ile1195Thr)
c.9434T>C (p.Ile3145Thr)
c.9314T>C (p.Ile3105Thr)
c.9245T>C (p.Ile3082Thr)
c.7649T>C (p.Ile2550Thr)
n.9785T>C
6g.51748107A>TCA364420904PKHD1c.9509T>A (p.Ile3170Asn)
c.9380T>A (p.Ile3127Asn)
c.9371T>A (p.Ile3124Asn)
c.8867T>A (p.Ile2956Asn)
c.8798T>A (p.Ile2933Asn)
c.3584T>A (p.Ile1195Asn)
c.9434T>A (p.Ile3145Asn)
c.9314T>A (p.Ile3105Asn)
c.9245T>A (p.Ile3082Asn)
c.7649T>A (p.Ile2550Asn)
n.9785T>A
6g.51748108T>ACA364420905PKHD1c.9508A>T (p.Ile3170Phe)
c.9379A>T (p.Ile3127Phe)
c.9370A>T (p.Ile3124Phe)
c.8866A>T (p.Ile2956Phe)
c.8797A>T (p.Ile2933Phe)
c.3583A>T (p.Ile1195Phe)
c.9433A>T (p.Ile3145Phe)
c.9313A>T (p.Ile3105Phe)
c.9244A>T (p.Ile3082Phe)
c.7648A>T (p.Ile2550Phe)
n.9784A>T
6g.51748108T>CCA364420906PKHD1c.9508A>G (p.Ile3170Val)
c.9379A>G (p.Ile3127Val)
c.9370A>G (p.Ile3124Val)
c.8866A>G (p.Ile2956Val)
c.8797A>G (p.Ile2933Val)
c.3583A>G (p.Ile1195Val)
c.9433A>G (p.Ile3145Val)
c.9313A>G (p.Ile3105Val)
c.9244A>G (p.Ile3082Val)
c.7648A>G (p.Ile2550Val)
n.9784A>G
6g.51748108T>GCA364420907PKHD1c.9508A>C (p.Ile3170Leu)
c.9379A>C (p.Ile3127Leu)
c.9370A>C (p.Ile3124Leu)
c.8866A>C (p.Ile2956Leu)
c.8797A>C (p.Ile2933Leu)
c.3583A>C (p.Ile1195Leu)
c.9433A>C (p.Ile3145Leu)
c.9313A>C (p.Ile3105Leu)
c.9244A>C (p.Ile3082Leu)
c.7648A>C (p.Ile2550Leu)
n.9784A>C
6g.51748109G>ACA450613461PKHD1c.9507C>T (p.Asn3169=)
c.9378C>T (p.Asn3126=)
c.9369C>T (p.Asn3123=)
c.8865C>T (p.Asn2955=)
c.8796C>T (p.Asn2932=)
c.3582C>T (p.Asn1194=)
c.9432C>T (p.Asn3144=)
c.9312C>T (p.Asn3104=)
c.9243C>T (p.Asn3081=)
c.7647C>T (p.Asn2549=)
n.9783C>T
 ClinVar dbSNP gnomAD v4
6g.51748109G>CCA364420908PKHD1c.9507C>G (p.Asn3169Lys)
c.9378C>G (p.Asn3126Lys)
c.9369C>G (p.Asn3123Lys)
c.8865C>G (p.Asn2955Lys)
c.8796C>G (p.Asn2932Lys)
c.3582C>G (p.Asn1194Lys)
c.9432C>G (p.Asn3144Lys)
c.9312C>G (p.Asn3104Lys)
c.9243C>G (p.Asn3081Lys)
c.7647C>G (p.Asn2549Lys)
n.9783C>G
6g.51748109G=CA1628502537PKHD1c.9507C= (p.Asn3169=)
c.9378C= (p.Asn3126=)
c.9369C= (p.Asn3123=)
c.8865C= (p.Asn2955=)
c.8796C= (p.Asn2932=)
c.3582C= (p.Asn1194=)
c.9432C= (p.Asn3144=)
c.9312C= (p.Asn3104=)
c.9243C= (p.Asn3081=)
c.7647C= (p.Asn2549=)
n.9783C=
6g.51748109G>TCA364420909PKHD1c.9507C>A (p.Asn3169Lys)
c.9378C>A (p.Asn3126Lys)
c.9369C>A (p.Asn3123Lys)
c.8865C>A (p.Asn2955Lys)
c.8796C>A (p.Asn2932Lys)
c.3582C>A (p.Asn1194Lys)
c.9432C>A (p.Asn3144Lys)
c.9312C>A (p.Asn3104Lys)
c.9243C>A (p.Asn3081Lys)
c.7647C>A (p.Asn2549Lys)
n.9783C>A
6g.51748110T>ACA364420912PKHD1c.9506A>T (p.Asn3169Ile)
c.9377A>T (p.Asn3126Ile)
c.9368A>T (p.Asn3123Ile)
c.8864A>T (p.Asn2955Ile)
c.8795A>T (p.Asn2932Ile)
c.3581A>T (p.Asn1194Ile)
c.9431A>T (p.Asn3144Ile)
c.9311A>T (p.Asn3104Ile)
c.9242A>T (p.Asn3081Ile)
c.7646A>T (p.Asn2549Ile)
n.9782A>T
6g.51748110T>CCA364420910PKHD1c.9506A>G (p.Asn3169Ser)
c.9377A>G (p.Asn3126Ser)
c.9368A>G (p.Asn3123Ser)
c.8864A>G (p.Asn2955Ser)
c.8795A>G (p.Asn2932Ser)
c.3581A>G (p.Asn1194Ser)
c.9431A>G (p.Asn3144Ser)
c.9311A>G (p.Asn3104Ser)
c.9242A>G (p.Asn3081Ser)
c.7646A>G (p.Asn2549Ser)
n.9782A>G
6g.51748110T>GCA364420911PKHD1c.9506A>C (p.Asn3169Thr)
c.9377A>C (p.Asn3126Thr)
c.9368A>C (p.Asn3123Thr)
c.8864A>C (p.Asn2955Thr)
c.8795A>C (p.Asn2932Thr)
c.3581A>C (p.Asn1194Thr)
c.9431A>C (p.Asn3144Thr)
c.9311A>C (p.Asn3104Thr)
c.9242A>C (p.Asn3081Thr)
c.7646A>C (p.Asn2549Thr)
n.9782A>C
6g.51748111T>ACA364420913PKHD1c.9505A>T (p.Asn3169Tyr)
c.9376A>T (p.Asn3126Tyr)
c.9367A>T (p.Asn3123Tyr)
c.8863A>T (p.Asn2955Tyr)
c.8794A>T (p.Asn2932Tyr)
c.3580A>T (p.Asn1194Tyr)
c.9430A>T (p.Asn3144Tyr)
c.9310A>T (p.Asn3104Tyr)
c.9241A>T (p.Asn3081Tyr)
c.7645A>T (p.Asn2549Tyr)
n.9781A>T
6g.51748111T>CCA364420914PKHD1c.9505A>G (p.Asn3169Asp)
c.9376A>G (p.Asn3126Asp)
c.9367A>G (p.Asn3123Asp)
c.8863A>G (p.Asn2955Asp)
c.8794A>G (p.Asn2932Asp)
c.3580A>G (p.Asn1194Asp)
c.9430A>G (p.Asn3144Asp)
c.9310A>G (p.Asn3104Asp)
c.9241A>G (p.Asn3081Asp)
c.7645A>G (p.Asn2549Asp)
n.9781A>G
6g.51748111T>GCA364420915PKHD1c.9505A>C (p.Asn3169His)
c.9376A>C (p.Asn3126His)
c.9367A>C (p.Asn3123His)
c.8863A>C (p.Asn2955His)
c.8794A>C (p.Asn2932His)
c.3580A>C (p.Asn1194His)
c.9430A>C (p.Asn3144His)
c.9310A>C (p.Asn3104His)
c.9241A>C (p.Asn3081His)
c.7645A>C (p.Asn2549His)
n.9781A>C
6g.51748112C>ACA364420916PKHD1c.9504G>T (p.Glu3168Asp)
c.9375G>T (p.Glu3125Asp)
c.9366G>T (p.Glu3122Asp)
c.8862G>T (p.Glu2954Asp)
c.8793G>T (p.Glu2931Asp)
c.3579G>T (p.Glu1193Asp)
c.9429G>T (p.Glu3143Asp)
c.9309G>T (p.Glu3103Asp)
c.9240G>T (p.Glu3080Asp)
c.7644G>T (p.Glu2548Asp)
n.9780G>T
6g.51748112C=CA1628502541PKHD1c.9504G= (p.Glu3168=)
c.9375G= (p.Glu3125=)
c.9366G= (p.Glu3122=)
c.8862G= (p.Glu2954=)
c.8793G= (p.Glu2931=)
c.3579G= (p.Glu1193=)
c.9429G= (p.Glu3143=)
c.9309G= (p.Glu3103=)
c.9240G= (p.Glu3080=)
c.7644G= (p.Glu2548=)
n.9780G=
6g.51748112C>GCA364420917PKHD1c.9504G>C (p.Glu3168Asp)
c.9375G>C (p.Glu3125Asp)
c.9366G>C (p.Glu3122Asp)
c.8862G>C (p.Glu2954Asp)
c.8793G>C (p.Glu2931Asp)
c.3579G>C (p.Glu1193Asp)
c.9429G>C (p.Glu3143Asp)
c.9309G>C (p.Glu3103Asp)
c.9240G>C (p.Glu3080Asp)
c.7644G>C (p.Glu2548Asp)
n.9780G>C
6g.51748112C>TCA138896146PKHD1c.9504G>A (p.Glu3168=)
c.9375G>A (p.Glu3125=)
c.9366G>A (p.Glu3122=)
c.8862G>A (p.Glu2954=)
c.8793G>A (p.Glu2931=)
c.3579G>A (p.Glu1193=)
c.9429G>A (p.Glu3143=)
c.9309G>A (p.Glu3103=)
c.9240G>A (p.Glu3080=)
c.7644G>A (p.Glu2548=)
n.9780G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748113T>ACA364420918PKHD1c.9503A>T (p.Glu3168Val)
c.9374A>T (p.Glu3125Val)
c.9365A>T (p.Glu3122Val)
c.8861A>T (p.Glu2954Val)
c.8792A>T (p.Glu2931Val)
c.3578A>T (p.Glu1193Val)
c.9428A>T (p.Glu3143Val)
c.9308A>T (p.Glu3103Val)
c.9239A>T (p.Glu3080Val)
c.7643A>T (p.Glu2548Val)
n.9779A>T
6g.51748113T>CCA364420919PKHD1c.9503A>G (p.Glu3168Gly)
c.9374A>G (p.Glu3125Gly)
c.9365A>G (p.Glu3122Gly)
c.8861A>G (p.Glu2954Gly)
c.8792A>G (p.Glu2931Gly)
c.3578A>G (p.Glu1193Gly)
c.9428A>G (p.Glu3143Gly)
c.9308A>G (p.Glu3103Gly)
c.9239A>G (p.Glu3080Gly)
c.7643A>G (p.Glu2548Gly)
n.9779A>G
6g.51748113T>GCA364420920PKHD1c.9503A>C (p.Glu3168Ala)
c.9374A>C (p.Glu3125Ala)
c.9365A>C (p.Glu3122Ala)
c.8861A>C (p.Glu2954Ala)
c.8792A>C (p.Glu2931Ala)
c.3578A>C (p.Glu1193Ala)
c.9428A>C (p.Glu3143Ala)
c.9308A>C (p.Glu3103Ala)
c.9239A>C (p.Glu3080Ala)
c.7643A>C (p.Glu2548Ala)
n.9779A>C
6g.51748114C>ACA364420921PKHD1c.9502G>T (p.Glu3168Ter)
c.9373G>T (p.Glu3125Ter)
c.9364G>T (p.Glu3122Ter)
c.8860G>T (p.Glu2954Ter)
c.8791G>T (p.Glu2931Ter)
c.3577G>T (p.Glu1193Ter)
c.9427G>T (p.Glu3143Ter)
c.9307G>T (p.Glu3103Ter)
c.9238G>T (p.Glu3080Ter)
c.7642G>T (p.Glu2548Ter)
n.9778G>T
 gnomAD v4
6g.51748114C>GCA364420922PKHD1c.9502G>C (p.Glu3168Gln)
c.9373G>C (p.Glu3125Gln)
c.9364G>C (p.Glu3122Gln)
c.8860G>C (p.Glu2954Gln)
c.8791G>C (p.Glu2931Gln)
c.3577G>C (p.Glu1193Gln)
c.9427G>C (p.Glu3143Gln)
c.9307G>C (p.Glu3103Gln)
c.9238G>C (p.Glu3080Gln)
c.7642G>C (p.Glu2548Gln)
n.9778G>C
6g.51748114C>TCA364420923PKHD1c.9502G>A (p.Glu3168Lys)
c.9373G>A (p.Glu3125Lys)
c.9364G>A (p.Glu3122Lys)
c.8860G>A (p.Glu2954Lys)
c.8791G>A (p.Glu2931Lys)
c.3577G>A (p.Glu1193Lys)
c.9427G>A (p.Glu3143Lys)
c.9307G>A (p.Glu3103Lys)
c.9238G>A (p.Glu3080Lys)
c.7642G>A (p.Glu2548Lys)
n.9778G>A
 gnomAD v4
6g.51748115T>ACA450613463PKHD1c.9501A>T (p.Ile3167=)
c.9372A>T (p.Ile3124=)
c.9363A>T (p.Ile3121=)
c.8859A>T (p.Ile2953=)
c.8790A>T (p.Ile2930=)
c.3576A>T (p.Ile1192=)
c.9426A>T (p.Ile3142=)
c.9306A>T (p.Ile3102=)
c.9237A>T (p.Ile3079=)
c.7641A>T (p.Ile2547=)
n.9777A>T
6g.51748115T>CCA364420924PKHD1c.9501A>G (p.Ile3167Met)
c.9372A>G (p.Ile3124Met)
c.9363A>G (p.Ile3121Met)
c.8859A>G (p.Ile2953Met)
c.8790A>G (p.Ile2930Met)
c.3576A>G (p.Ile1192Met)
c.9426A>G (p.Ile3142Met)
c.9306A>G (p.Ile3102Met)
c.9237A>G (p.Ile3079Met)
c.7641A>G (p.Ile2547Met)
n.9777A>G
 dbSNP gnomAD v2
6g.51748115T>GCA450613465PKHD1c.9501A>C (p.Ile3167=)
c.9372A>C (p.Ile3124=)
c.9363A>C (p.Ile3121=)
c.8859A>C (p.Ile2953=)
c.8790A>C (p.Ile2930=)
c.3576A>C (p.Ile1192=)
c.9426A>C (p.Ile3142=)
c.9306A>C (p.Ile3102=)
c.9237A>C (p.Ile3079=)
c.7641A>C (p.Ile2547=)
n.9777A>C
 gnomAD v4
6g.51748115T=CA1628502546PKHD1c.9501A= (p.Ile3167=)
c.9372A= (p.Ile3124=)
c.9363A= (p.Ile3121=)
c.8859A= (p.Ile2953=)
c.8790A= (p.Ile2930=)
c.3576A= (p.Ile1192=)
c.9426A= (p.Ile3142=)
c.9306A= (p.Ile3102=)
c.9237A= (p.Ile3079=)
c.7641A= (p.Ile2547=)
n.9777A=
6g.51748116A=CA1628502550PKHD1c.9500T= (p.Ile3167=)
c.9371T= (p.Ile3124=)
c.9362T= (p.Ile3121=)
c.8858T= (p.Ile2953=)
c.8789T= (p.Ile2930=)
c.3575T= (p.Ile1192=)
c.9425T= (p.Ile3142=)
c.9305T= (p.Ile3102=)
c.9236T= (p.Ile3079=)
c.7640T= (p.Ile2547=)
n.9776T=
6g.51748116A>CCA364420926PKHD1c.9500T>G (p.Ile3167Arg)
c.9371T>G (p.Ile3124Arg)
c.9362T>G (p.Ile3121Arg)
c.8858T>G (p.Ile2953Arg)
c.8789T>G (p.Ile2930Arg)
c.3575T>G (p.Ile1192Arg)
c.9425T>G (p.Ile3142Arg)
c.9305T>G (p.Ile3102Arg)
c.9236T>G (p.Ile3079Arg)
c.7640T>G (p.Ile2547Arg)
n.9776T>G
 gnomAD v4
6g.51748116A>GCA3851381PKHD1c.9500T>C (p.Ile3167Thr)
c.9371T>C (p.Ile3124Thr)
c.9362T>C (p.Ile3121Thr)
c.8858T>C (p.Ile2953Thr)
c.8789T>C (p.Ile2930Thr)
c.3575T>C (p.Ile1192Thr)
c.9425T>C (p.Ile3142Thr)
c.9305T>C (p.Ile3102Thr)
c.9236T>C (p.Ile3079Thr)
c.7640T>C (p.Ile2547Thr)
n.9776T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748116A>TCA364420925PKHD1c.9500T>A (p.Ile3167Lys)
c.9371T>A (p.Ile3124Lys)
c.9362T>A (p.Ile3121Lys)
c.8858T>A (p.Ile2953Lys)
c.8789T>A (p.Ile2930Lys)
c.3575T>A (p.Ile1192Lys)
c.9425T>A (p.Ile3142Lys)
c.9305T>A (p.Ile3102Lys)
c.9236T>A (p.Ile3079Lys)
c.7640T>A (p.Ile2547Lys)
n.9776T>A
6g.51748117T>ACA364420927PKHD1c.9499A>T (p.Ile3167Leu)
c.9370A>T (p.Ile3124Leu)
c.9361A>T (p.Ile3121Leu)
c.8857A>T (p.Ile2953Leu)
c.8788A>T (p.Ile2930Leu)
c.3574A>T (p.Ile1192Leu)
c.9424A>T (p.Ile3142Leu)
c.9304A>T (p.Ile3102Leu)
c.9235A>T (p.Ile3079Leu)
c.7639A>T (p.Ile2547Leu)
n.9775A>T
6g.51748117T>CCA364420928PKHD1c.9499A>G (p.Ile3167Val)
c.9370A>G (p.Ile3124Val)
c.9361A>G (p.Ile3121Val)
c.8857A>G (p.Ile2953Val)
c.8788A>G (p.Ile2930Val)
c.3574A>G (p.Ile1192Val)
c.9424A>G (p.Ile3142Val)
c.9304A>G (p.Ile3102Val)
c.9235A>G (p.Ile3079Val)
c.7639A>G (p.Ile2547Val)
n.9775A>G
 gnomAD v4
6g.51748117T>GCA364420929PKHD1c.9499A>C (p.Ile3167Leu)
c.9370A>C (p.Ile3124Leu)
c.9361A>C (p.Ile3121Leu)
c.8857A>C (p.Ile2953Leu)
c.8788A>C (p.Ile2930Leu)
c.3574A>C (p.Ile1192Leu)
c.9424A>C (p.Ile3142Leu)
c.9304A>C (p.Ile3102Leu)
c.9235A>C (p.Ile3079Leu)
c.7639A>C (p.Ile2547Leu)
n.9775A>C
6g.51748118C>ACA364420930PKHD1c.9498G>T (p.Glu3166Asp)
c.9369G>T (p.Glu3123Asp)
c.9360G>T (p.Glu3120Asp)
c.8856G>T (p.Glu2952Asp)
c.8787G>T (p.Glu2929Asp)
c.3573G>T (p.Glu1191Asp)
c.9423G>T (p.Glu3141Asp)
c.9303G>T (p.Glu3101Asp)
c.9234G>T (p.Glu3078Asp)
c.7638G>T (p.Glu2546Asp)
n.9774G>T
6g.51748118C>GCA364420931PKHD1c.9498G>C (p.Glu3166Asp)
c.9369G>C (p.Glu3123Asp)
c.9360G>C (p.Glu3120Asp)
c.8856G>C (p.Glu2952Asp)
c.8787G>C (p.Glu2929Asp)
c.3573G>C (p.Glu1191Asp)
c.9423G>C (p.Glu3141Asp)
c.9303G>C (p.Glu3101Asp)
c.9234G>C (p.Glu3078Asp)
c.7638G>C (p.Glu2546Asp)
n.9774G>C
6g.51748118C>TCA450613467PKHD1c.9498G>A (p.Glu3166=)
c.9369G>A (p.Glu3123=)
c.9360G>A (p.Glu3120=)
c.8856G>A (p.Glu2952=)
c.8787G>A (p.Glu2929=)
c.3573G>A (p.Glu1191=)
c.9423G>A (p.Glu3141=)
c.9303G>A (p.Glu3101=)
c.9234G>A (p.Glu3078=)
c.7638G>A (p.Glu2546=)
n.9774G>A
6g.51748119T>ACA364420934PKHD1c.9497A>T (p.Glu3166Val)
c.9368A>T (p.Glu3123Val)
c.9359A>T (p.Glu3120Val)
c.8855A>T (p.Glu2952Val)
c.8786A>T (p.Glu2929Val)
c.3572A>T (p.Glu1191Val)
c.9422A>T (p.Glu3141Val)
c.9302A>T (p.Glu3101Val)
c.9233A>T (p.Glu3078Val)
c.7637A>T (p.Glu2546Val)
n.9773A>T
6g.51748119T>CCA364420933PKHD1c.9497A>G (p.Glu3166Gly)
c.9368A>G (p.Glu3123Gly)
c.9359A>G (p.Glu3120Gly)
c.8855A>G (p.Glu2952Gly)
c.8786A>G (p.Glu2929Gly)
c.3572A>G (p.Glu1191Gly)
c.9422A>G (p.Glu3141Gly)
c.9302A>G (p.Glu3101Gly)
c.9233A>G (p.Glu3078Gly)
c.7637A>G (p.Glu2546Gly)
n.9773A>G
6g.51748119T>GCA364420932PKHD1c.9497A>C (p.Glu3166Ala)
c.9368A>C (p.Glu3123Ala)
c.9359A>C (p.Glu3120Ala)
c.8855A>C (p.Glu2952Ala)
c.8786A>C (p.Glu2929Ala)
c.3572A>C (p.Glu1191Ala)
c.9422A>C (p.Glu3141Ala)
c.9302A>C (p.Glu3101Ala)
c.9233A>C (p.Glu3078Ala)
c.7637A>C (p.Glu2546Ala)
n.9773A>C
6g.51748120C>ACA364420935PKHD1c.9496G>T (p.Glu3166Ter)
c.9367G>T (p.Glu3123Ter)
c.9358G>T (p.Glu3120Ter)
c.8854G>T (p.Glu2952Ter)
c.8785G>T (p.Glu2929Ter)
c.3571G>T (p.Glu1191Ter)
c.9421G>T (p.Glu3141Ter)
c.9301G>T (p.Glu3101Ter)
c.9232G>T (p.Glu3078Ter)
c.7636G>T (p.Glu2546Ter)
n.9772G>T
6g.51748120C=CA1628502556PKHD1c.9496G= (p.Glu3166=)
c.9367G= (p.Glu3123=)
c.9358G= (p.Glu3120=)
c.8854G= (p.Glu2952=)
c.8785G= (p.Glu2929=)
c.3571G= (p.Glu1191=)
c.9421G= (p.Glu3141=)
c.9301G= (p.Glu3101=)
c.9232G= (p.Glu3078=)
c.7636G= (p.Glu2546=)
n.9772G=
6g.51748120C>GCA3851382PKHD1c.9496G>C (p.Glu3166Gln)
c.9367G>C (p.Glu3123Gln)
c.9358G>C (p.Glu3120Gln)
c.8854G>C (p.Glu2952Gln)
c.8785G>C (p.Glu2929Gln)
c.3571G>C (p.Glu1191Gln)
c.9421G>C (p.Glu3141Gln)
c.9301G>C (p.Glu3101Gln)
c.9232G>C (p.Glu3078Gln)
c.7636G>C (p.Glu2546Gln)
n.9772G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748120C>TCA364420936PKHD1c.9496G>A (p.Glu3166Lys)
c.9367G>A (p.Glu3123Lys)
c.9358G>A (p.Glu3120Lys)
c.8854G>A (p.Glu2952Lys)
c.8785G>A (p.Glu2929Lys)
c.3571G>A (p.Glu1191Lys)
c.9421G>A (p.Glu3141Lys)
c.9301G>A (p.Glu3101Lys)
c.9232G>A (p.Glu3078Lys)
c.7636G>A (p.Glu2546Lys)
n.9772G>A
 gnomAD v4
6g.51748121C>ACA450613469PKHD1c.9495G>T (p.Val3165=)
c.9366G>T (p.Val3122=)
c.9357G>T (p.Val3119=)
c.8853G>T (p.Val2951=)
c.8784G>T (p.Val2928=)
c.3570G>T (p.Val1190=)
c.9420G>T (p.Val3140=)
c.9300G>T (p.Val3100=)
c.9231G>T (p.Val3077=)
c.7635G>T (p.Val2545=)
n.9771G>T
6g.51748121C>GCA450613470PKHD1c.9495G>C (p.Val3165=)
c.9366G>C (p.Val3122=)
c.9357G>C (p.Val3119=)
c.8853G>C (p.Val2951=)
c.8784G>C (p.Val2928=)
c.3570G>C (p.Val1190=)
c.9420G>C (p.Val3140=)
c.9300G>C (p.Val3100=)
c.9231G>C (p.Val3077=)
c.7635G>C (p.Val2545=)
n.9771G>C
6g.51748121C>TCA450613471PKHD1c.9495G>A (p.Val3165=)
c.9366G>A (p.Val3122=)
c.9357G>A (p.Val3119=)
c.8853G>A (p.Val2951=)
c.8784G>A (p.Val2928=)
c.3570G>A (p.Val1190=)
c.9420G>A (p.Val3140=)
c.9300G>A (p.Val3100=)
c.9231G>A (p.Val3077=)
c.7635G>A (p.Val2545=)
n.9771G>A
 COSMIC COSMIC
6g.51748122A>CCA364420937PKHD1c.9494T>G (p.Val3165Gly)
c.9365T>G (p.Val3122Gly)
c.9356T>G (p.Val3119Gly)
c.8852T>G (p.Val2951Gly)
c.8783T>G (p.Val2928Gly)
c.3569T>G (p.Val1190Gly)
c.9419T>G (p.Val3140Gly)
c.9299T>G (p.Val3100Gly)
c.9230T>G (p.Val3077Gly)
c.7634T>G (p.Val2545Gly)
n.9770T>G
6g.51748122A>GCA364420938PKHD1c.9494T>C (p.Val3165Ala)
c.9365T>C (p.Val3122Ala)
c.9356T>C (p.Val3119Ala)
c.8852T>C (p.Val2951Ala)
c.8783T>C (p.Val2928Ala)
c.3569T>C (p.Val1190Ala)
c.9419T>C (p.Val3140Ala)
c.9299T>C (p.Val3100Ala)
c.9230T>C (p.Val3077Ala)
c.7634T>C (p.Val2545Ala)
n.9770T>C
6g.51748122A>TCA364420939PKHD1c.9494T>A (p.Val3165Glu)
c.9365T>A (p.Val3122Glu)
c.9356T>A (p.Val3119Glu)
c.8852T>A (p.Val2951Glu)
c.8783T>A (p.Val2928Glu)
c.3569T>A (p.Val1190Glu)
c.9419T>A (p.Val3140Glu)
c.9299T>A (p.Val3100Glu)
c.9230T>A (p.Val3077Glu)
c.7634T>A (p.Val2545Glu)
n.9770T>A
6g.51748123C>ACA364420940PKHD1c.9493G>T (p.Val3165Leu)
c.9364G>T (p.Val3122Leu)
c.9355G>T (p.Val3119Leu)
c.8851G>T (p.Val2951Leu)
c.8782G>T (p.Val2928Leu)
c.3568G>T (p.Val1190Leu)
c.9418G>T (p.Val3140Leu)
c.9298G>T (p.Val3100Leu)
c.9229G>T (p.Val3077Leu)
c.7633G>T (p.Val2545Leu)
n.9769G>T
6g.51748123C=CA1628502577PKHD1c.9493G= (p.Val3165=)
c.9364G= (p.Val3122=)
c.9355G= (p.Val3119=)
c.8851G= (p.Val2951=)
c.8782G= (p.Val2928=)
c.3568G= (p.Val1190=)
c.9418G= (p.Val3140=)
c.9298G= (p.Val3100=)
c.9229G= (p.Val3077=)
c.7633G= (p.Val2545=)
n.9769G=
6g.51748123C>GCA364420941PKHD1c.9493G>C (p.Val3165Leu)
c.9364G>C (p.Val3122Leu)
c.9355G>C (p.Val3119Leu)
c.8851G>C (p.Val2951Leu)
c.8782G>C (p.Val2928Leu)
c.3568G>C (p.Val1190Leu)
c.9418G>C (p.Val3140Leu)
c.9298G>C (p.Val3100Leu)
c.9229G>C (p.Val3077Leu)
c.7633G>C (p.Val2545Leu)
n.9769G>C
 dbSNP gnomAD v3 gnomAD v4
6g.51748123C>TCA3851383PKHD1c.9493G>A (p.Val3165Met)
c.9364G>A (p.Val3122Met)
c.9355G>A (p.Val3119Met)
c.8851G>A (p.Val2951Met)
c.8782G>A (p.Val2928Met)
c.3568G>A (p.Val1190Met)
c.9418G>A (p.Val3140Met)
c.9298G>A (p.Val3100Met)
c.9229G>A (p.Val3077Met)
c.7633G>A (p.Val2545Met)
n.9769G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748124G>ACA149537PKHD1c.9492C>T (p.Ser3164=)
c.9363C>T (p.Ser3121=)
c.9354C>T (p.Ser3118=)
c.8850C>T (p.Ser2950=)
c.8781C>T (p.Ser2927=)
c.3567C>T (p.Ser1189=)
c.9417C>T (p.Ser3139=)
c.9297C>T (p.Ser3099=)
c.9228C>T (p.Ser3076=)
c.7632C>T (p.Ser2544=)
n.9768C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748124G>CCA364420942PKHD1c.9492C>G (p.Ser3164Arg)
c.9363C>G (p.Ser3121Arg)
c.9354C>G (p.Ser3118Arg)
c.8850C>G (p.Ser2950Arg)
c.8781C>G (p.Ser2927Arg)
c.3567C>G (p.Ser1189Arg)
c.9417C>G (p.Ser3139Arg)
c.9297C>G (p.Ser3099Arg)
c.9228C>G (p.Ser3076Arg)
c.7632C>G (p.Ser2544Arg)
n.9768C>G
6g.51748124G=CA1628502578PKHD1c.9492C= (p.Ser3164=)
c.9363C= (p.Ser3121=)
c.9354C= (p.Ser3118=)
c.8850C= (p.Ser2950=)
c.8781C= (p.Ser2927=)
c.3567C= (p.Ser1189=)
c.9417C= (p.Ser3139=)
c.9297C= (p.Ser3099=)
c.9228C= (p.Ser3076=)
c.7632C= (p.Ser2544=)
n.9768C=
6g.51748124G>TCA364420943PKHD1c.9492C>A (p.Ser3164Arg)
c.9363C>A (p.Ser3121Arg)
c.9354C>A (p.Ser3118Arg)
c.8850C>A (p.Ser2950Arg)
c.8781C>A (p.Ser2927Arg)
c.3567C>A (p.Ser1189Arg)
c.9417C>A (p.Ser3139Arg)
c.9297C>A (p.Ser3099Arg)
c.9228C>A (p.Ser3076Arg)
c.7632C>A (p.Ser2544Arg)
n.9768C>A
6g.51748125C>ACA364420944PKHD1c.9491G>T (p.Ser3164Ile)
c.9362G>T (p.Ser3121Ile)
c.9353G>T (p.Ser3118Ile)
c.8849G>T (p.Ser2950Ile)
c.8780G>T (p.Ser2927Ile)
c.3566G>T (p.Ser1189Ile)
c.9416G>T (p.Ser3139Ile)
c.9296G>T (p.Ser3099Ile)
c.9227G>T (p.Ser3076Ile)
c.7631G>T (p.Ser2544Ile)
n.9767G>T
6g.51748125C>GCA364420945PKHD1c.9491G>C (p.Ser3164Thr)
c.9362G>C (p.Ser3121Thr)
c.9353G>C (p.Ser3118Thr)
c.8849G>C (p.Ser2950Thr)
c.8780G>C (p.Ser2927Thr)
c.3566G>C (p.Ser1189Thr)
c.9416G>C (p.Ser3139Thr)
c.9296G>C (p.Ser3099Thr)
c.9227G>C (p.Ser3076Thr)
c.7631G>C (p.Ser2544Thr)
n.9767G>C
6g.51748125C>TCA364420946PKHD1c.9491G>A (p.Ser3164Asn)
c.9362G>A (p.Ser3121Asn)
c.9353G>A (p.Ser3118Asn)
c.8849G>A (p.Ser2950Asn)
c.8780G>A (p.Ser2927Asn)
c.3566G>A (p.Ser1189Asn)
c.9416G>A (p.Ser3139Asn)
c.9296G>A (p.Ser3099Asn)
c.9227G>A (p.Ser3076Asn)
c.7631G>A (p.Ser2544Asn)
n.9767G>A
6g.51748126T>ACA364420947PKHD1c.9490A>T (p.Ser3164Cys)
c.9361A>T (p.Ser3121Cys)
c.9352A>T (p.Ser3118Cys)
c.8848A>T (p.Ser2950Cys)
c.8779A>T (p.Ser2927Cys)
c.3565A>T (p.Ser1189Cys)
c.9415A>T (p.Ser3139Cys)
c.9295A>T (p.Ser3099Cys)
c.9226A>T (p.Ser3076Cys)
c.7630A>T (p.Ser2544Cys)
n.9766A>T
6g.51748126T>CCA364420948PKHD1c.9490A>G (p.Ser3164Gly)
c.9361A>G (p.Ser3121Gly)
c.9352A>G (p.Ser3118Gly)
c.8848A>G (p.Ser2950Gly)
c.8779A>G (p.Ser2927Gly)
c.3565A>G (p.Ser1189Gly)
c.9415A>G (p.Ser3139Gly)
c.9295A>G (p.Ser3099Gly)
c.9226A>G (p.Ser3076Gly)
c.7630A>G (p.Ser2544Gly)
n.9766A>G
6g.51748126T>GCA364420949PKHD1c.9490A>C (p.Ser3164Arg)
c.9361A>C (p.Ser3121Arg)
c.9352A>C (p.Ser3118Arg)
c.8848A>C (p.Ser2950Arg)
c.8779A>C (p.Ser2927Arg)
c.3565A>C (p.Ser1189Arg)
c.9415A>C (p.Ser3139Arg)
c.9295A>C (p.Ser3099Arg)
c.9226A>C (p.Ser3076Arg)
c.7630A>C (p.Ser2544Arg)
n.9766A>C
6g.51748127G>ACA450613478PKHD1c.9489C>T (p.Asn3163=)
c.9360C>T (p.Asn3120=)
c.9351C>T (p.Asn3117=)
c.8847C>T (p.Asn2949=)
c.8778C>T (p.Asn2926=)
c.3564C>T (p.Asn1188=)
c.9414C>T (p.Asn3138=)
c.9294C>T (p.Asn3098=)
c.9225C>T (p.Asn3075=)
c.7629C>T (p.Asn2543=)
n.9765C>T
6g.51748127G>CCA364420950PKHD1c.9489C>G (p.Asn3163Lys)
c.9360C>G (p.Asn3120Lys)
c.9351C>G (p.Asn3117Lys)
c.8847C>G (p.Asn2949Lys)
c.8778C>G (p.Asn2926Lys)
c.3564C>G (p.Asn1188Lys)
c.9414C>G (p.Asn3138Lys)
c.9294C>G (p.Asn3098Lys)
c.9225C>G (p.Asn3075Lys)
c.7629C>G (p.Asn2543Lys)
n.9765C>G
6g.51748127G>TCA364420951PKHD1c.9489C>A (p.Asn3163Lys)
c.9360C>A (p.Asn3120Lys)
c.9351C>A (p.Asn3117Lys)
c.8847C>A (p.Asn2949Lys)
c.8778C>A (p.Asn2926Lys)
c.3564C>A (p.Asn1188Lys)
c.9414C>A (p.Asn3138Lys)
c.9294C>A (p.Asn3098Lys)
c.9225C>A (p.Asn3075Lys)
c.7629C>A (p.Asn2543Lys)
n.9765C>A
 COSMIC COSMIC
6g.51748128T>ACA364420952PKHD1c.9488A>T (p.Asn3163Ile)
c.9359A>T (p.Asn3120Ile)
c.9350A>T (p.Asn3117Ile)
c.8846A>T (p.Asn2949Ile)
c.8777A>T (p.Asn2926Ile)
c.3563A>T (p.Asn1188Ile)
c.9413A>T (p.Asn3138Ile)
c.9293A>T (p.Asn3098Ile)
c.9224A>T (p.Asn3075Ile)
c.7628A>T (p.Asn2543Ile)
n.9764A>T
6g.51748128T>CCA364420954PKHD1c.9488A>G (p.Asn3163Ser)
c.9359A>G (p.Asn3120Ser)
c.9350A>G (p.Asn3117Ser)
c.8846A>G (p.Asn2949Ser)
c.8777A>G (p.Asn2926Ser)
c.3563A>G (p.Asn1188Ser)
c.9413A>G (p.Asn3138Ser)
c.9293A>G (p.Asn3098Ser)
c.9224A>G (p.Asn3075Ser)
c.7628A>G (p.Asn2543Ser)
n.9764A>G
6g.51748128T>GCA364420953PKHD1c.9488A>C (p.Asn3163Thr)
c.9359A>C (p.Asn3120Thr)
c.9350A>C (p.Asn3117Thr)
c.8846A>C (p.Asn2949Thr)
c.8777A>C (p.Asn2926Thr)
c.3563A>C (p.Asn1188Thr)
c.9413A>C (p.Asn3138Thr)
c.9293A>C (p.Asn3098Thr)
c.9224A>C (p.Asn3075Thr)
c.7628A>C (p.Asn2543Thr)
n.9764A>C
6g.51748129T>ACA138896163PKHD1c.9487A>T (p.Asn3163Tyr)
c.9358A>T (p.Asn3120Tyr)
c.9349A>T (p.Asn3117Tyr)
c.8845A>T (p.Asn2949Tyr)
c.8776A>T (p.Asn2926Tyr)
c.3562A>T (p.Asn1188Tyr)
c.9412A>T (p.Asn3138Tyr)
c.9292A>T (p.Asn3098Tyr)
c.9223A>T (p.Asn3075Tyr)
c.7627A>T (p.Asn2543Tyr)
n.9763A>T
 dbSNP gnomAD v3 gnomAD v4
6g.51748129T>CCA364420955PKHD1c.9487A>G (p.Asn3163Asp)
c.9358A>G (p.Asn3120Asp)
c.9349A>G (p.Asn3117Asp)
c.8845A>G (p.Asn2949Asp)
c.8776A>G (p.Asn2926Asp)
c.3562A>G (p.Asn1188Asp)
c.9412A>G (p.Asn3138Asp)
c.9292A>G (p.Asn3098Asp)
c.9223A>G (p.Asn3075Asp)
c.7627A>G (p.Asn2543Asp)
n.9763A>G
6g.51748129T>GCA364420956PKHD1c.9487A>C (p.Asn3163His)
c.9358A>C (p.Asn3120His)
c.9349A>C (p.Asn3117His)
c.8845A>C (p.Asn2949His)
c.8776A>C (p.Asn2926His)
c.3562A>C (p.Asn1188His)
c.9412A>C (p.Asn3138His)
c.9292A>C (p.Asn3098His)
c.9223A>C (p.Asn3075His)
c.7627A>C (p.Asn2543His)
n.9763A>C
6g.51748129T=CA1628502583PKHD1c.9487A= (p.Asn3163=)
c.9358A= (p.Asn3120=)
c.9349A= (p.Asn3117=)
c.8845A= (p.Asn2949=)
c.8776A= (p.Asn2926=)
c.3562A= (p.Asn1188=)
c.9412A= (p.Asn3138=)
c.9292A= (p.Asn3098=)
c.9223A= (p.Asn3075=)
c.7627A= (p.Asn2543=)
n.9763A=
6g.51748130C>ACA364420957PKHD1c.9486G>T (p.Glu3162Asp)
c.9357G>T (p.Glu3119Asp)
c.9348G>T (p.Glu3116Asp)
c.8844G>T (p.Glu2948Asp)
c.8775G>T (p.Glu2925Asp)
c.3561G>T (p.Glu1187Asp)
c.9411G>T (p.Glu3137Asp)
c.9291G>T (p.Glu3097Asp)
c.9222G>T (p.Glu3074Asp)
c.7626G>T (p.Glu2542Asp)
n.9762G>T
 COSMIC COSMIC
6g.51748130C>GCA364420958PKHD1c.9486G>C (p.Glu3162Asp)
c.9357G>C (p.Glu3119Asp)
c.9348G>C (p.Glu3116Asp)
c.8844G>C (p.Glu2948Asp)
c.8775G>C (p.Glu2925Asp)
c.3561G>C (p.Glu1187Asp)
c.9411G>C (p.Glu3137Asp)
c.9291G>C (p.Glu3097Asp)
c.9222G>C (p.Glu3074Asp)
c.7626G>C (p.Glu2542Asp)
n.9762G>C
6g.51748130C>TCA450613480PKHD1c.9486G>A (p.Glu3162=)
c.9357G>A (p.Glu3119=)
c.9348G>A (p.Glu3116=)
c.8844G>A (p.Glu2948=)
c.8775G>A (p.Glu2925=)
c.3561G>A (p.Glu1187=)
c.9411G>A (p.Glu3137=)
c.9291G>A (p.Glu3097=)
c.9222G>A (p.Glu3074=)
c.7626G>A (p.Glu2542=)
n.9762G>A
6g.51748131T>ACA364420959PKHD1c.9485A>T (p.Glu3162Val)
c.9356A>T (p.Glu3119Val)
c.9347A>T (p.Glu3116Val)
c.8843A>T (p.Glu2948Val)
c.8774A>T (p.Glu2925Val)
c.3560A>T (p.Glu1187Val)
c.9410A>T (p.Glu3137Val)
c.9290A>T (p.Glu3097Val)
c.9221A>T (p.Glu3074Val)
c.7625A>T (p.Glu2542Val)
n.9761A>T
6g.51748131T>CCA138896165PKHD1c.9485A>G (p.Glu3162Gly)
c.9356A>G (p.Glu3119Gly)
c.9347A>G (p.Glu3116Gly)
c.8843A>G (p.Glu2948Gly)
c.8774A>G (p.Glu2925Gly)
c.3560A>G (p.Glu1187Gly)
c.9410A>G (p.Glu3137Gly)
c.9290A>G (p.Glu3097Gly)
c.9221A>G (p.Glu3074Gly)
c.7625A>G (p.Glu2542Gly)
n.9761A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748131T>GCA364420960PKHD1c.9485A>C (p.Glu3162Ala)
c.9356A>C (p.Glu3119Ala)
c.9347A>C (p.Glu3116Ala)
c.8843A>C (p.Glu2948Ala)
c.8774A>C (p.Glu2925Ala)
c.3560A>C (p.Glu1187Ala)
c.9410A>C (p.Glu3137Ala)
c.9290A>C (p.Glu3097Ala)
c.9221A>C (p.Glu3074Ala)
c.7625A>C (p.Glu2542Ala)
n.9761A>C
6g.51748131T=CA1628502587PKHD1c.9485A= (p.Glu3162=)
c.9356A= (p.Glu3119=)
c.9347A= (p.Glu3116=)
c.8843A= (p.Glu2948=)
c.8774A= (p.Glu2925=)
c.3560A= (p.Glu1187=)
c.9410A= (p.Glu3137=)
c.9290A= (p.Glu3097=)
c.9221A= (p.Glu3074=)
c.7625A= (p.Glu2542=)
n.9761A=
6g.51748132C>ACA364420961PKHD1c.9484G>T (p.Glu3162Ter)
c.9355G>T (p.Glu3119Ter)
c.9346G>T (p.Glu3116Ter)
c.8842G>T (p.Glu2948Ter)
c.8773G>T (p.Glu2925Ter)
c.3559G>T (p.Glu1187Ter)
c.9409G>T (p.Glu3137Ter)
c.9289G>T (p.Glu3097Ter)
c.9220G>T (p.Glu3074Ter)
c.7624G>T (p.Glu2542Ter)
n.9760G>T
6g.51748132C>GCA364420962PKHD1c.9484G>C (p.Glu3162Gln)
c.9355G>C (p.Glu3119Gln)
c.9346G>C (p.Glu3116Gln)
c.8842G>C (p.Glu2948Gln)
c.8773G>C (p.Glu2925Gln)
c.3559G>C (p.Glu1187Gln)
c.9409G>C (p.Glu3137Gln)
c.9289G>C (p.Glu3097Gln)
c.9220G>C (p.Glu3074Gln)
c.7624G>C (p.Glu2542Gln)
n.9760G>C
6g.51748132C>TCA364420963PKHD1c.9484G>A (p.Glu3162Lys)
c.9355G>A (p.Glu3119Lys)
c.9346G>A (p.Glu3116Lys)
c.8842G>A (p.Glu2948Lys)
c.8773G>A (p.Glu2925Lys)
c.3559G>A (p.Glu1187Lys)
c.9409G>A (p.Glu3137Lys)
c.9289G>A (p.Glu3097Lys)
c.9220G>A (p.Glu3074Lys)
c.7624G>A (p.Glu2542Lys)
n.9760G>A
6g.51748133T>ACA450613484PKHD1c.9483A>T (p.Val3161=)
c.9354A>T (p.Val3118=)
c.9345A>T (p.Val3115=)
c.8841A>T (p.Val2947=)
c.8772A>T (p.Val2924=)
c.3558A>T (p.Val1186=)
c.9408A>T (p.Val3136=)
c.9288A>T (p.Val3096=)
c.9219A>T (p.Val3073=)
c.7623A>T (p.Val2541=)
n.9759A>T
6g.51748133T>CCA450613485PKHD1c.9483A>G (p.Val3161=)
c.9354A>G (p.Val3118=)
c.9345A>G (p.Val3115=)
c.8841A>G (p.Val2947=)
c.8772A>G (p.Val2924=)
c.3558A>G (p.Val1186=)
c.9408A>G (p.Val3136=)
c.9288A>G (p.Val3096=)
c.9219A>G (p.Val3073=)
c.7623A>G (p.Val2541=)
n.9759A>G
6g.51748133T>GCA450613486PKHD1c.9483A>C (p.Val3161=)
c.9354A>C (p.Val3118=)
c.9345A>C (p.Val3115=)
c.8841A>C (p.Val2947=)
c.8772A>C (p.Val2924=)
c.3558A>C (p.Val1186=)
c.9408A>C (p.Val3136=)
c.9288A>C (p.Val3096=)
c.9219A>C (p.Val3073=)
c.7623A>C (p.Val2541=)
n.9759A>C
6g.51748134A=CA1628502590PKHD1c.9482T= (p.Val3161=)
c.9353T= (p.Val3118=)
c.9344T= (p.Val3115=)
c.8840T= (p.Val2947=)
c.8771T= (p.Val2924=)
c.3557T= (p.Val1186=)
c.9407T= (p.Val3136=)
c.9287T= (p.Val3096=)
c.9218T= (p.Val3073=)
c.7622T= (p.Val2541=)
n.9758T=
6g.51748134A>CCA364420966PKHD1c.9482T>G (p.Val3161Gly)
c.9353T>G (p.Val3118Gly)
c.9344T>G (p.Val3115Gly)
c.8840T>G (p.Val2947Gly)
c.8771T>G (p.Val2924Gly)
c.3557T>G (p.Val1186Gly)
c.9407T>G (p.Val3136Gly)
c.9287T>G (p.Val3096Gly)
c.9218T>G (p.Val3073Gly)
c.7622T>G (p.Val2541Gly)
n.9758T>G
6g.51748134A>GCA364420965PKHD1c.9482T>C (p.Val3161Ala)
c.9353T>C (p.Val3118Ala)
c.9344T>C (p.Val3115Ala)
c.8840T>C (p.Val2947Ala)
c.8771T>C (p.Val2924Ala)
c.3557T>C (p.Val1186Ala)
c.9407T>C (p.Val3136Ala)
c.9287T>C (p.Val3096Ala)
c.9218T>C (p.Val3073Ala)
c.7622T>C (p.Val2541Ala)
n.9758T>C
 dbSNP
6g.51748134A>TCA364420964PKHD1c.9482T>A (p.Val3161Glu)
c.9353T>A (p.Val3118Glu)
c.9344T>A (p.Val3115Glu)
c.8840T>A (p.Val2947Glu)
c.8771T>A (p.Val2924Glu)
c.3557T>A (p.Val1186Glu)
c.9407T>A (p.Val3136Glu)
c.9287T>A (p.Val3096Glu)
c.9218T>A (p.Val3073Glu)
c.7622T>A (p.Val2541Glu)
n.9758T>A
6g.51748139_51748145delCA2679078633PKHD1c.9476_9482del (p.Leu3159Ter)
c.9347_9353del (p.Leu3116Ter)
c.9338_9344del (p.Leu3113Ter)
c.8834_8840del (p.Leu2945Ter)
c.8765_8771del (p.Leu2922Ter)
c.3551_3557del (p.Leu1184Ter)
c.9401_9407del (p.Leu3134Ter)
c.9281_9287del (p.Leu3094Ter)
c.9212_9218del (p.Leu3071Ter)
c.7616_7622del (p.Leu2539Ter)
n.9752_9758del
 gnomAD v4
6g.51748135C>ACA364420967PKHD1c.9481G>T (p.Val3161Leu)
c.9352G>T (p.Val3118Leu)
c.9343G>T (p.Val3115Leu)
c.8839G>T (p.Val2947Leu)
c.8770G>T (p.Val2924Leu)
c.3556G>T (p.Val1186Leu)
c.9406G>T (p.Val3136Leu)
c.9286G>T (p.Val3096Leu)
c.9217G>T (p.Val3073Leu)
c.7621G>T (p.Val2541Leu)
n.9757G>T
6g.51748135C>GCA364420968PKHD1c.9481G>C (p.Val3161Leu)
c.9352G>C (p.Val3118Leu)
c.9343G>C (p.Val3115Leu)
c.8839G>C (p.Val2947Leu)
c.8770G>C (p.Val2924Leu)
c.3556G>C (p.Val1186Leu)
c.9406G>C (p.Val3136Leu)
c.9286G>C (p.Val3096Leu)
c.9217G>C (p.Val3073Leu)
c.7621G>C (p.Val2541Leu)
n.9757G>C
6g.51748135C>TCA364420969PKHD1c.9481G>A (p.Val3161Ile)
c.9352G>A (p.Val3118Ile)
c.9343G>A (p.Val3115Ile)
c.8839G>A (p.Val2947Ile)
c.8770G>A (p.Val2924Ile)
c.3556G>A (p.Val1186Ile)
c.9406G>A (p.Val3136Ile)
c.9286G>A (p.Val3096Ile)
c.9217G>A (p.Val3073Ile)
c.7621G>A (p.Val2541Ile)
n.9757G>A
6g.51748136A>CCA364420970PKHD1c.9480T>G (p.His3160Gln)
c.9351T>G (p.His3117Gln)
c.9342T>G (p.His3114Gln)
c.8838T>G (p.His2946Gln)
c.8769T>G (p.His2923Gln)
c.3555T>G (p.His1185Gln)
c.9405T>G (p.His3135Gln)
c.9285T>G (p.His3095Gln)
c.9216T>G (p.His3072Gln)
c.7620T>G (p.His2540Gln)
n.9756T>G
 gnomAD v4
6g.51748136A>GCA450613491PKHD1c.9480T>C (p.His3160=)
c.9351T>C (p.His3117=)
c.9342T>C (p.His3114=)
c.8838T>C (p.His2946=)
c.8769T>C (p.His2923=)
c.3555T>C (p.His1185=)
c.9405T>C (p.His3135=)
c.9285T>C (p.His3095=)
c.9216T>C (p.His3072=)
c.7620T>C (p.His2540=)
n.9756T>C
 COSMIC COSMIC
6g.51748136A>TCA364420971PKHD1c.9480T>A (p.His3160Gln)
c.9351T>A (p.His3117Gln)
c.9342T>A (p.His3114Gln)
c.8838T>A (p.His2946Gln)
c.8769T>A (p.His2923Gln)
c.3555T>A (p.His1185Gln)
c.9405T>A (p.His3135Gln)
c.9285T>A (p.His3095Gln)
c.9216T>A (p.His3072Gln)
c.7620T>A (p.His2540Gln)
n.9756T>A
6g.51748137T>ACA3851384PKHD1c.9479A>T (p.His3160Leu)
c.9350A>T (p.His3117Leu)
c.9341A>T (p.His3114Leu)
c.8837A>T (p.His2946Leu)
c.8768A>T (p.His2923Leu)
c.3554A>T (p.His1185Leu)
c.9404A>T (p.His3135Leu)
c.9284A>T (p.His3095Leu)
c.9215A>T (p.His3072Leu)
c.7619A>T (p.His2540Leu)
n.9755A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748137T>CCA138896168PKHD1c.9479A>G (p.His3160Arg)
c.9350A>G (p.His3117Arg)
c.9341A>G (p.His3114Arg)
c.8837A>G (p.His2946Arg)
c.8768A>G (p.His2923Arg)
c.3554A>G (p.His1185Arg)
c.9404A>G (p.His3135Arg)
c.9284A>G (p.His3095Arg)
c.9215A>G (p.His3072Arg)
c.7619A>G (p.His2540Arg)
n.9755A>G
 dbSNP
6g.51748137T>GCA364420972PKHD1c.9479A>C (p.His3160Pro)
c.9350A>C (p.His3117Pro)
c.9341A>C (p.His3114Pro)
c.8837A>C (p.His2946Pro)
c.8768A>C (p.His2923Pro)
c.3554A>C (p.His1185Pro)
c.9404A>C (p.His3135Pro)
c.9284A>C (p.His3095Pro)
c.9215A>C (p.His3072Pro)
c.7619A>C (p.His2540Pro)
n.9755A>C
6g.51748137T=CA1628502593PKHD1c.9479A= (p.His3160=)
c.9350A= (p.His3117=)
c.9341A= (p.His3114=)
c.8837A= (p.His2946=)
c.8768A= (p.His2923=)
c.3554A= (p.His1185=)
c.9404A= (p.His3135=)
c.9284A= (p.His3095=)
c.9215A= (p.His3072=)
c.7619A= (p.His2540=)
n.9755A=
6g.51748138G>ACA3851385PKHD1c.9478C>T (p.His3160Tyr)
c.9349C>T (p.His3117Tyr)
c.9340C>T (p.His3114Tyr)
c.8836C>T (p.His2946Tyr)
c.8767C>T (p.His2923Tyr)
c.3553C>T (p.His1185Tyr)
c.9403C>T (p.His3135Tyr)
c.9283C>T (p.His3095Tyr)
c.9214C>T (p.His3072Tyr)
c.7618C>T (p.His2540Tyr)
n.9754C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748138G>CCA364420973PKHD1c.9478C>G (p.His3160Asp)
c.9349C>G (p.His3117Asp)
c.9340C>G (p.His3114Asp)
c.8836C>G (p.His2946Asp)
c.8767C>G (p.His2923Asp)
c.3553C>G (p.His1185Asp)
c.9403C>G (p.His3135Asp)
c.9283C>G (p.His3095Asp)
c.9214C>G (p.His3072Asp)
c.7618C>G (p.His2540Asp)
n.9754C>G
6g.51748138G=CA1628502600PKHD1c.9478C= (p.His3160=)
c.9349C= (p.His3117=)
c.9340C= (p.His3114=)
c.8836C= (p.His2946=)
c.8767C= (p.His2923=)
c.3553C= (p.His1185=)
c.9403C= (p.His3135=)
c.9283C= (p.His3095=)
c.9214C= (p.His3072=)
c.7618C= (p.His2540=)
n.9754C=
6g.51748138G>TCA364420974PKHD1c.9478C>A (p.His3160Asn)
c.9349C>A (p.His3117Asn)
c.9340C>A (p.His3114Asn)
c.8836C>A (p.His2946Asn)
c.8767C>A (p.His2923Asn)
c.3553C>A (p.His1185Asn)
c.9403C>A (p.His3135Asn)
c.9283C>A (p.His3095Asn)
c.9214C>A (p.His3072Asn)
c.7618C>A (p.His2540Asn)
n.9754C>A

Number of alleles fetched