Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51753234A=CA1628509945PKHD1c.8917T= (p.Ser2973=)
c.8788T= (p.Ser2930=)
c.8779T= (p.Ser2927=)
c.8275T= (p.Ser2759=)
c.8206T= (p.Ser2736=)
c.2992T= (p.Ser998=)
c.8842T= (p.Ser2948=)
c.8722T= (p.Ser2908=)
c.8653T= (p.Ser2885=)
c.7057T= (p.Ser2353=)
n.9193T=
6g.51753234A>CCA364426696PKHD1c.8917T>G (p.Ser2973Ala)
c.8788T>G (p.Ser2930Ala)
c.8779T>G (p.Ser2927Ala)
c.8275T>G (p.Ser2759Ala)
c.8206T>G (p.Ser2736Ala)
c.2992T>G (p.Ser998Ala)
c.8842T>G (p.Ser2948Ala)
c.8722T>G (p.Ser2908Ala)
c.8653T>G (p.Ser2885Ala)
c.7057T>G (p.Ser2353Ala)
n.9193T>G
6g.51753234A>GCA3851494PKHD1c.8917T>C (p.Ser2973Pro)
c.8788T>C (p.Ser2930Pro)
c.8779T>C (p.Ser2927Pro)
c.8275T>C (p.Ser2759Pro)
c.8206T>C (p.Ser2736Pro)
c.2992T>C (p.Ser998Pro)
c.8842T>C (p.Ser2948Pro)
c.8722T>C (p.Ser2908Pro)
c.8653T>C (p.Ser2885Pro)
c.7057T>C (p.Ser2353Pro)
n.9193T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51753234A>TCA364426697PKHD1c.8917T>A (p.Ser2973Thr)
c.8788T>A (p.Ser2930Thr)
c.8779T>A (p.Ser2927Thr)
c.8275T>A (p.Ser2759Thr)
c.8206T>A (p.Ser2736Thr)
c.2992T>A (p.Ser998Thr)
c.8842T>A (p.Ser2948Thr)
c.8722T>A (p.Ser2908Thr)
c.8653T>A (p.Ser2885Thr)
c.7057T>A (p.Ser2353Thr)
n.9193T>A
6g.51753235C>ACA450412573PKHD1c.8916G>T (p.Gly2972=)
c.8787G>T (p.Gly2929=)
c.8778G>T (p.Gly2926=)
c.8274G>T (p.Gly2758=)
c.8205G>T (p.Gly2735=)
c.2991G>T (p.Gly997=)
c.8841G>T (p.Gly2947=)
c.8721G>T (p.Gly2907=)
c.8652G>T (p.Gly2884=)
c.7056G>T (p.Gly2352=)
n.9192G>T
6g.51753235C>GCA450412571PKHD1c.8916G>C (p.Gly2972=)
c.8787G>C (p.Gly2929=)
c.8778G>C (p.Gly2926=)
c.8274G>C (p.Gly2758=)
c.8205G>C (p.Gly2735=)
c.2991G>C (p.Gly997=)
c.8841G>C (p.Gly2947=)
c.8721G>C (p.Gly2907=)
c.8652G>C (p.Gly2884=)
c.7056G>C (p.Gly2352=)
n.9192G>C
6g.51753235C>TCA450412570PKHD1c.8916G>A (p.Gly2972=)
c.8787G>A (p.Gly2929=)
c.8778G>A (p.Gly2926=)
c.8274G>A (p.Gly2758=)
c.8205G>A (p.Gly2735=)
c.2991G>A (p.Gly997=)
c.8841G>A (p.Gly2947=)
c.8721G>A (p.Gly2907=)
c.8652G>A (p.Gly2884=)
c.7056G>A (p.Gly2352=)
n.9192G>A
 ClinVar
6g.51753238dupCA2739273095PKHD1c.8916dup (p.Ser2973ValfsTer18)
c.8787dup (p.Ser2930ValfsTer18)
c.8778dup (p.Ser2927ValfsTer18)
c.8274dup (p.Ser2759ValfsTer18)
c.8205dup (p.Ser2736ValfsTer18)
c.2991dup (p.Ser998ValfsTer18)
c.8841dup (p.Ser2948ValfsTer18)
c.8721dup (p.Ser2908ValfsTer18)
c.8652dup (p.Ser2885ValfsTer18)
c.7056dup (p.Ser2353ValfsTer18)
n.9192dup
 ClinVar
6g.51753236C>ACA3851495PKHD1c.8915G>T (p.Gly2972Val)
c.8786G>T (p.Gly2929Val)
c.8777G>T (p.Gly2926Val)
c.8273G>T (p.Gly2758Val)
c.8204G>T (p.Gly2735Val)
c.2990G>T (p.Gly997Val)
c.8840G>T (p.Gly2947Val)
c.8720G>T (p.Gly2907Val)
c.8651G>T (p.Gly2884Val)
c.7055G>T (p.Gly2352Val)
n.9191G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51753236C=CA1628509948PKHD1c.8915G= (p.Gly2972=)
c.8786G= (p.Gly2929=)
c.8777G= (p.Gly2926=)
c.8273G= (p.Gly2758=)
c.8204G= (p.Gly2735=)
c.2990G= (p.Gly997=)
c.8840G= (p.Gly2947=)
c.8720G= (p.Gly2907=)
c.8651G= (p.Gly2884=)
c.7055G= (p.Gly2352=)
n.9191G=
6g.51753236C>GCA364426700PKHD1c.8915G>C (p.Gly2972Ala)
c.8786G>C (p.Gly2929Ala)
c.8777G>C (p.Gly2926Ala)
c.8273G>C (p.Gly2758Ala)
c.8204G>C (p.Gly2735Ala)
c.2990G>C (p.Gly997Ala)
c.8840G>C (p.Gly2947Ala)
c.8720G>C (p.Gly2907Ala)
c.8651G>C (p.Gly2884Ala)
c.7055G>C (p.Gly2352Ala)
n.9191G>C
6g.51753236C>TCA364426703PKHD1c.8915G>A (p.Gly2972Glu)
c.8786G>A (p.Gly2929Glu)
c.8777G>A (p.Gly2926Glu)
c.8273G>A (p.Gly2758Glu)
c.8204G>A (p.Gly2735Glu)
c.2990G>A (p.Gly997Glu)
c.8840G>A (p.Gly2947Glu)
c.8720G>A (p.Gly2907Glu)
c.8651G>A (p.Gly2884Glu)
c.7055G>A (p.Gly2352Glu)
n.9191G>A
6g.51753237C>ACA364426709PKHD1c.8914G>T (p.Gly2972Trp)
c.8785G>T (p.Gly2929Trp)
c.8776G>T (p.Gly2926Trp)
c.8272G>T (p.Gly2758Trp)
c.8203G>T (p.Gly2735Trp)
c.2989G>T (p.Gly997Trp)
c.8839G>T (p.Gly2947Trp)
c.8719G>T (p.Gly2907Trp)
c.8650G>T (p.Gly2884Trp)
c.7054G>T (p.Gly2352Trp)
n.9190G>T
6g.51753237C>GCA364426715PKHD1c.8914G>C (p.Gly2972Arg)
c.8785G>C (p.Gly2929Arg)
c.8776G>C (p.Gly2926Arg)
c.8272G>C (p.Gly2758Arg)
c.8203G>C (p.Gly2735Arg)
c.2989G>C (p.Gly997Arg)
c.8839G>C (p.Gly2947Arg)
c.8719G>C (p.Gly2907Arg)
c.8650G>C (p.Gly2884Arg)
c.7054G>C (p.Gly2352Arg)
n.9190G>C
6g.51753237C>TCA364426717PKHD1c.8914G>A (p.Gly2972Arg)
c.8785G>A (p.Gly2929Arg)
c.8776G>A (p.Gly2926Arg)
c.8272G>A (p.Gly2758Arg)
c.8203G>A (p.Gly2735Arg)
c.2989G>A (p.Gly997Arg)
c.8839G>A (p.Gly2947Arg)
c.8719G>A (p.Gly2907Arg)
c.8650G>A (p.Gly2884Arg)
c.7054G>A (p.Gly2352Arg)
n.9190G>A
6g.51753238C>ACA450412579PKHD1c.8913G>T (p.Val2971=)
c.8784G>T (p.Val2928=)
c.8775G>T (p.Val2925=)
c.8271G>T (p.Val2757=)
c.8202G>T (p.Val2734=)
c.2988G>T (p.Val996=)
c.8838G>T (p.Val2946=)
c.8718G>T (p.Val2906=)
c.8649G>T (p.Val2883=)
c.7053G>T (p.Val2351=)
n.9189G>T
 gnomAD v4
6g.51753238C>GCA450412580PKHD1c.8913G>C (p.Val2971=)
c.8784G>C (p.Val2928=)
c.8775G>C (p.Val2925=)
c.8271G>C (p.Val2757=)
c.8202G>C (p.Val2734=)
c.2988G>C (p.Val996=)
c.8838G>C (p.Val2946=)
c.8718G>C (p.Val2906=)
c.8649G>C (p.Val2883=)
c.7053G>C (p.Val2351=)
n.9189G>C
6g.51753238C>TCA450412581PKHD1c.8913G>A (p.Val2971=)
c.8784G>A (p.Val2928=)
c.8775G>A (p.Val2925=)
c.8271G>A (p.Val2757=)
c.8202G>A (p.Val2734=)
c.2988G>A (p.Val996=)
c.8838G>A (p.Val2946=)
c.8718G>A (p.Val2906=)
c.8649G>A (p.Val2883=)
c.7053G>A (p.Val2351=)
n.9189G>A
6g.51753238_51753242delinsCACAACA1628509951PKHD1c.8909_8913delinsTTGTG (p.Phe2970=)
c.8780_8784delinsTTGTG (p.Phe2927=)
c.8771_8775delinsTTGTG (p.Phe2924=)
c.8267_8271delinsTTGTG (p.Phe2756=)
c.8198_8202delinsTTGTG (p.Phe2733=)
c.2984_2988delinsTTGTG (p.Phe995=)
c.8834_8838delinsTTGTG (p.Phe2945=)
c.8714_8718delinsTTGTG (p.Phe2905=)
c.8645_8649delinsTTGTG (p.Phe2882=)
c.7049_7053delinsTTGTG (p.Phe2350=)
n.9185_9189delinsTTGTG
6g.51753239delCA2573140892PKHD1c.8912del (p.Val2971GlyfsTer?)
c.8783del (p.Val2928GlyfsTer?)
c.8774del (p.Val2925GlyfsTer?)
c.8270del (p.Val2757GlyfsTer?)
c.8201del (p.Val2734GlyfsTer?)
c.2987del (p.Val996GlyfsTer?)
c.8837del (p.Val2946GlyfsTer?)
c.8717del (p.Val2906GlyfsTer?)
c.8648del (p.Val2883GlyfsTer?)
c.7052del (p.Val2351GlyfsTer?)
n.9188del
 ClinVar dbSNP
6g.51753239A=CA1628509957PKHD1c.8912T= (p.Val2971=)
c.8783T= (p.Val2928=)
c.8774T= (p.Val2925=)
c.8270T= (p.Val2757=)
c.8201T= (p.Val2734=)
c.2987T= (p.Val996=)
c.8837T= (p.Val2946=)
c.8717T= (p.Val2906=)
c.8648T= (p.Val2883=)
c.7052T= (p.Val2351=)
n.9188T=
6g.51753239A>CCA364426718PKHD1c.8912T>G (p.Val2971Gly)
c.8783T>G (p.Val2928Gly)
c.8774T>G (p.Val2925Gly)
c.8270T>G (p.Val2757Gly)
c.8201T>G (p.Val2734Gly)
c.2987T>G (p.Val996Gly)
c.8837T>G (p.Val2946Gly)
c.8717T>G (p.Val2906Gly)
c.8648T>G (p.Val2883Gly)
c.7052T>G (p.Val2351Gly)
n.9188T>G
6g.51753239A>GCA364426719PKHD1c.8912T>C (p.Val2971Ala)
c.8783T>C (p.Val2928Ala)
c.8774T>C (p.Val2925Ala)
c.8270T>C (p.Val2757Ala)
c.8201T>C (p.Val2734Ala)
c.2987T>C (p.Val996Ala)
c.8837T>C (p.Val2946Ala)
c.8717T>C (p.Val2906Ala)
c.8648T>C (p.Val2883Ala)
c.7052T>C (p.Val2351Ala)
n.9188T>C
 dbSNP
6g.51753239A>TCA364426721PKHD1c.8912T>A (p.Val2971Glu)
c.8783T>A (p.Val2928Glu)
c.8774T>A (p.Val2925Glu)
c.8270T>A (p.Val2757Glu)
c.8201T>A (p.Val2734Glu)
c.2987T>A (p.Val996Glu)
c.8837T>A (p.Val2946Glu)
c.8717T>A (p.Val2906Glu)
c.8648T>A (p.Val2883Glu)
c.7052T>A (p.Val2351Glu)
n.9188T>A
6g.51753242_51753245delCA567287226PKHD1c.8909_8912del (p.Phe2970TrpfsTer?)
c.8780_8783del (p.Phe2927TrpfsTer?)
c.8771_8774del (p.Phe2924TrpfsTer?)
c.8267_8270del (p.Phe2756TrpfsTer?)
c.8198_8201del (p.Phe2733TrpfsTer?)
c.2984_2987del (p.Phe995TrpfsTer?)
c.8834_8837del (p.Phe2945TrpfsTer?)
c.8714_8717del (p.Phe2905TrpfsTer?)
c.8645_8648del (p.Phe2882TrpfsTer?)
c.7049_7052del (p.Phe2350TrpfsTer?)
n.9185_9188del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51753240C>ACA364426729PKHD1c.8911G>T (p.Val2971Leu)
c.8782G>T (p.Val2928Leu)
c.8773G>T (p.Val2925Leu)
c.8269G>T (p.Val2757Leu)
c.8200G>T (p.Val2734Leu)
c.2986G>T (p.Val996Leu)
c.8836G>T (p.Val2946Leu)
c.8716G>T (p.Val2906Leu)
c.8647G>T (p.Val2883Leu)
c.7051G>T (p.Val2351Leu)
n.9187G>T
 dbSNP gnomAD v2 gnomAD v4
6g.51753240C=CA1628509961PKHD1c.8911G= (p.Val2971=)
c.8782G= (p.Val2928=)
c.8773G= (p.Val2925=)
c.8269G= (p.Val2757=)
c.8200G= (p.Val2734=)
c.2986G= (p.Val996=)
c.8836G= (p.Val2946=)
c.8716G= (p.Val2906=)
c.8647G= (p.Val2883=)
c.7051G= (p.Val2351=)
n.9187G=
6g.51753240C>GCA364426722PKHD1c.8911G>C (p.Val2971Leu)
c.8782G>C (p.Val2928Leu)
c.8773G>C (p.Val2925Leu)
c.8269G>C (p.Val2757Leu)
c.8200G>C (p.Val2734Leu)
c.2986G>C (p.Val996Leu)
c.8836G>C (p.Val2946Leu)
c.8716G>C (p.Val2906Leu)
c.8647G>C (p.Val2883Leu)
c.7051G>C (p.Val2351Leu)
n.9187G>C
6g.51753240C>TCA364426725PKHD1c.8911G>A (p.Val2971Met)
c.8782G>A (p.Val2928Met)
c.8773G>A (p.Val2925Met)
c.8269G>A (p.Val2757Met)
c.8200G>A (p.Val2734Met)
c.2986G>A (p.Val996Met)
c.8836G>A (p.Val2946Met)
c.8716G>A (p.Val2906Met)
c.8647G>A (p.Val2883Met)
c.7051G>A (p.Val2351Met)
n.9187G>A
6g.51753241A>CCA364426732PKHD1c.8910T>G (p.Phe2970Leu)
c.8781T>G (p.Phe2927Leu)
c.8772T>G (p.Phe2924Leu)
c.8268T>G (p.Phe2756Leu)
c.8199T>G (p.Phe2733Leu)
c.2985T>G (p.Phe995Leu)
c.8835T>G (p.Phe2945Leu)
c.8715T>G (p.Phe2905Leu)
c.8646T>G (p.Phe2882Leu)
c.7050T>G (p.Phe2350Leu)
n.9186T>G
 gnomAD v4
6g.51753241A>GCA450412588PKHD1c.8910T>C (p.Phe2970=)
c.8781T>C (p.Phe2927=)
c.8772T>C (p.Phe2924=)
c.8268T>C (p.Phe2756=)
c.8199T>C (p.Phe2733=)
c.2985T>C (p.Phe995=)
c.8835T>C (p.Phe2945=)
c.8715T>C (p.Phe2905=)
c.8646T>C (p.Phe2882=)
c.7050T>C (p.Phe2350=)
n.9186T>C
6g.51753241A>TCA364426733PKHD1c.8910T>A (p.Phe2970Leu)
c.8781T>A (p.Phe2927Leu)
c.8772T>A (p.Phe2924Leu)
c.8268T>A (p.Phe2756Leu)
c.8199T>A (p.Phe2733Leu)
c.2985T>A (p.Phe995Leu)
c.8835T>A (p.Phe2945Leu)
c.8715T>A (p.Phe2905Leu)
c.8646T>A (p.Phe2882Leu)
c.7050T>A (p.Phe2350Leu)
n.9186T>A
6g.51753242A=CA1628509964PKHD1c.8909T= (p.Phe2970=)
c.8780T= (p.Phe2927=)
c.8771T= (p.Phe2924=)
c.8267T= (p.Phe2756=)
c.8198T= (p.Phe2733=)
c.2984T= (p.Phe995=)
c.8834T= (p.Phe2945=)
c.8714T= (p.Phe2905=)
c.8645T= (p.Phe2882=)
c.7049T= (p.Phe2350=)
n.9185T=
6g.51753242A>CCA364426734PKHD1c.8909T>G (p.Phe2970Cys)
c.8780T>G (p.Phe2927Cys)
c.8771T>G (p.Phe2924Cys)
c.8267T>G (p.Phe2756Cys)
c.8198T>G (p.Phe2733Cys)
c.2984T>G (p.Phe995Cys)
c.8834T>G (p.Phe2945Cys)
c.8714T>G (p.Phe2905Cys)
c.8645T>G (p.Phe2882Cys)
c.7049T>G (p.Phe2350Cys)
n.9185T>G
6g.51753242A>GCA364426735PKHD1c.8909T>C (p.Phe2970Ser)
c.8780T>C (p.Phe2927Ser)
c.8771T>C (p.Phe2924Ser)
c.8267T>C (p.Phe2756Ser)
c.8198T>C (p.Phe2733Ser)
c.2984T>C (p.Phe995Ser)
c.8834T>C (p.Phe2945Ser)
c.8714T>C (p.Phe2905Ser)
c.8645T>C (p.Phe2882Ser)
c.7049T>C (p.Phe2350Ser)
n.9185T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51753242A>TCA364426736PKHD1c.8909T>A (p.Phe2970Tyr)
c.8780T>A (p.Phe2927Tyr)
c.8771T>A (p.Phe2924Tyr)
c.8267T>A (p.Phe2756Tyr)
c.8198T>A (p.Phe2733Tyr)
c.2984T>A (p.Phe995Tyr)
c.8834T>A (p.Phe2945Tyr)
c.8714T>A (p.Phe2905Tyr)
c.8645T>A (p.Phe2882Tyr)
c.7049T>A (p.Phe2350Tyr)
n.9185T>A
6g.51753243A>CCA364426738PKHD1c.8908T>G (p.Phe2970Val)
c.8779T>G (p.Phe2927Val)
c.8770T>G (p.Phe2924Val)
c.8266T>G (p.Phe2756Val)
c.8197T>G (p.Phe2733Val)
c.2983T>G (p.Phe995Val)
c.8833T>G (p.Phe2945Val)
c.8713T>G (p.Phe2905Val)
c.8644T>G (p.Phe2882Val)
c.7048T>G (p.Phe2350Val)
n.9184T>G
6g.51753243A>GCA364426739PKHD1c.8908T>C (p.Phe2970Leu)
c.8779T>C (p.Phe2927Leu)
c.8770T>C (p.Phe2924Leu)
c.8266T>C (p.Phe2756Leu)
c.8197T>C (p.Phe2733Leu)
c.2983T>C (p.Phe995Leu)
c.8833T>C (p.Phe2945Leu)
c.8713T>C (p.Phe2905Leu)
c.8644T>C (p.Phe2882Leu)
c.7048T>C (p.Phe2350Leu)
n.9184T>C
 gnomAD v4
6g.51753243A>TCA364426741PKHD1c.8908T>A (p.Phe2970Ile)
c.8779T>A (p.Phe2927Ile)
c.8770T>A (p.Phe2924Ile)
c.8266T>A (p.Phe2756Ile)
c.8197T>A (p.Phe2733Ile)
c.2983T>A (p.Phe995Ile)
c.8833T>A (p.Phe2945Ile)
c.8713T>A (p.Phe2905Ile)
c.8644T>A (p.Phe2882Ile)
c.7048T>A (p.Phe2350Ile)
n.9184T>A
6g.51753244C>ACA450412592PKHD1c.8907G>T (p.Leu2969=)
c.8778G>T (p.Leu2926=)
c.8769G>T (p.Leu2923=)
c.8265G>T (p.Leu2755=)
c.8196G>T (p.Leu2732=)
c.2982G>T (p.Leu994=)
c.8832G>T (p.Leu2944=)
c.8712G>T (p.Leu2904=)
c.8643G>T (p.Leu2881=)
c.7047G>T (p.Leu2349=)
n.9183G>T
6g.51753244C=CA1628509966PKHD1c.8907G= (p.Leu2969=)
c.8778G= (p.Leu2926=)
c.8769G= (p.Leu2923=)
c.8265G= (p.Leu2755=)
c.8196G= (p.Leu2732=)
c.2982G= (p.Leu994=)
c.8832G= (p.Leu2944=)
c.8712G= (p.Leu2904=)
c.8643G= (p.Leu2881=)
c.7047G= (p.Leu2349=)
n.9183G=
6g.51753244C>GCA450412593PKHD1c.8907G>C (p.Leu2969=)
c.8778G>C (p.Leu2926=)
c.8769G>C (p.Leu2923=)
c.8265G>C (p.Leu2755=)
c.8196G>C (p.Leu2732=)
c.2982G>C (p.Leu994=)
c.8832G>C (p.Leu2944=)
c.8712G>C (p.Leu2904=)
c.8643G>C (p.Leu2881=)
c.7047G>C (p.Leu2349=)
n.9183G>C
 dbSNP gnomAD v3 gnomAD v4
6g.51753244C>TCA450412594PKHD1c.8907G>A (p.Leu2969=)
c.8778G>A (p.Leu2926=)
c.8769G>A (p.Leu2923=)
c.8265G>A (p.Leu2755=)
c.8196G>A (p.Leu2732=)
c.2982G>A (p.Leu994=)
c.8832G>A (p.Leu2944=)
c.8712G>A (p.Leu2904=)
c.8643G>A (p.Leu2881=)
c.7047G>A (p.Leu2349=)
n.9183G>A
6g.51753245A>CCA364426746PKHD1c.8906T>G (p.Leu2969Arg)
c.8777T>G (p.Leu2926Arg)
c.8768T>G (p.Leu2923Arg)
c.8264T>G (p.Leu2755Arg)
c.8195T>G (p.Leu2732Arg)
c.2981T>G (p.Leu994Arg)
c.8831T>G (p.Leu2944Arg)
c.8711T>G (p.Leu2904Arg)
c.8642T>G (p.Leu2881Arg)
c.7046T>G (p.Leu2349Arg)
n.9182T>G
6g.51753245A>GCA364426748PKHD1c.8906T>C (p.Leu2969Pro)
c.8777T>C (p.Leu2926Pro)
c.8768T>C (p.Leu2923Pro)
c.8264T>C (p.Leu2755Pro)
c.8195T>C (p.Leu2732Pro)
c.2981T>C (p.Leu994Pro)
c.8831T>C (p.Leu2944Pro)
c.8711T>C (p.Leu2904Pro)
c.8642T>C (p.Leu2881Pro)
c.7046T>C (p.Leu2349Pro)
n.9182T>C
6g.51753245A>TCA364426750PKHD1c.8906T>A (p.Leu2969Gln)
c.8777T>A (p.Leu2926Gln)
c.8768T>A (p.Leu2923Gln)
c.8264T>A (p.Leu2755Gln)
c.8195T>A (p.Leu2732Gln)
c.2981T>A (p.Leu994Gln)
c.8831T>A (p.Leu2944Gln)
c.8711T>A (p.Leu2904Gln)
c.8642T>A (p.Leu2881Gln)
c.7046T>A (p.Leu2349Gln)
n.9182T>A
6g.51753246G>ACA450412597PKHD1c.8905C>T (p.Leu2969=)
c.8776C>T (p.Leu2926=)
c.8767C>T (p.Leu2923=)
c.8263C>T (p.Leu2755=)
c.8194C>T (p.Leu2732=)
c.2980C>T (p.Leu994=)
c.8830C>T (p.Leu2944=)
c.8710C>T (p.Leu2904=)
c.8641C>T (p.Leu2881=)
c.7045C>T (p.Leu2349=)
n.9181C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51753246G>CCA364426751PKHD1c.8905C>G (p.Leu2969Val)
c.8776C>G (p.Leu2926Val)
c.8767C>G (p.Leu2923Val)
c.8263C>G (p.Leu2755Val)
c.8194C>G (p.Leu2732Val)
c.2980C>G (p.Leu994Val)
c.8830C>G (p.Leu2944Val)
c.8710C>G (p.Leu2904Val)
c.8641C>G (p.Leu2881Val)
c.7045C>G (p.Leu2349Val)
n.9181C>G
6g.51753246G=CA1628509969PKHD1c.8905C= (p.Leu2969=)
c.8776C= (p.Leu2926=)
c.8767C= (p.Leu2923=)
c.8263C= (p.Leu2755=)
c.8194C= (p.Leu2732=)
c.2980C= (p.Leu994=)
c.8830C= (p.Leu2944=)
c.8710C= (p.Leu2904=)
c.8641C= (p.Leu2881=)
c.7045C= (p.Leu2349=)
n.9181C=
6g.51753246G>TCA364426753PKHD1c.8905C>A (p.Leu2969Met)
c.8776C>A (p.Leu2926Met)
c.8767C>A (p.Leu2923Met)
c.8263C>A (p.Leu2755Met)
c.8194C>A (p.Leu2732Met)
c.2980C>A (p.Leu994Met)
c.8830C>A (p.Leu2944Met)
c.8710C>A (p.Leu2904Met)
c.8641C>A (p.Leu2881Met)
c.7045C>A (p.Leu2349Met)
n.9181C>A
6g.51753247T>ACA364426758PKHD1c.8904A>T (p.Arg2968Ser)
c.8775A>T (p.Arg2925Ser)
c.8766A>T (p.Arg2922Ser)
c.8262A>T (p.Arg2754Ser)
c.8193A>T (p.Arg2731Ser)
c.2979A>T (p.Arg993Ser)
c.8829A>T (p.Arg2943Ser)
c.8709A>T (p.Arg2903Ser)
c.8640A>T (p.Arg2880Ser)
c.7044A>T (p.Arg2348Ser)
n.9180A>T
6g.51753247T>CCA450412599PKHD1c.8904A>G (p.Arg2968=)
c.8775A>G (p.Arg2925=)
c.8766A>G (p.Arg2922=)
c.8262A>G (p.Arg2754=)
c.8193A>G (p.Arg2731=)
c.2979A>G (p.Arg993=)
c.8829A>G (p.Arg2943=)
c.8709A>G (p.Arg2903=)
c.8640A>G (p.Arg2880=)
c.7044A>G (p.Arg2348=)
n.9180A>G
 gnomAD v4
6g.51753247T>GCA364426756PKHD1c.8904A>C (p.Arg2968Ser)
c.8775A>C (p.Arg2925Ser)
c.8766A>C (p.Arg2922Ser)
c.8262A>C (p.Arg2754Ser)
c.8193A>C (p.Arg2731Ser)
c.2979A>C (p.Arg993Ser)
c.8829A>C (p.Arg2943Ser)
c.8709A>C (p.Arg2903Ser)
c.8640A>C (p.Arg2880Ser)
c.7044A>C (p.Arg2348Ser)
n.9180A>C
6g.51753248C>ACA364426760PKHD1c.8903G>T (p.Arg2968Ile)
c.8774G>T (p.Arg2925Ile)
c.8765G>T (p.Arg2922Ile)
c.8261G>T (p.Arg2754Ile)
c.8192G>T (p.Arg2731Ile)
c.2978G>T (p.Arg993Ile)
c.8828G>T (p.Arg2943Ile)
c.8708G>T (p.Arg2903Ile)
c.8639G>T (p.Arg2880Ile)
c.7043G>T (p.Arg2348Ile)
n.9179G>T
6g.51753248C=CA1628509972PKHD1c.8903G= (p.Arg2968=)
c.8774G= (p.Arg2925=)
c.8765G= (p.Arg2922=)
c.8261G= (p.Arg2754=)
c.8192G= (p.Arg2731=)
c.2978G= (p.Arg993=)
c.8828G= (p.Arg2943=)
c.8708G= (p.Arg2903=)
c.8639G= (p.Arg2880=)
c.7043G= (p.Arg2348=)
n.9179G=
6g.51753248C>GCA364426764PKHD1c.8903G>C (p.Arg2968Thr)
c.8774G>C (p.Arg2925Thr)
c.8765G>C (p.Arg2922Thr)
c.8261G>C (p.Arg2754Thr)
c.8192G>C (p.Arg2731Thr)
c.2978G>C (p.Arg993Thr)
c.8828G>C (p.Arg2943Thr)
c.8708G>C (p.Arg2903Thr)
c.8639G>C (p.Arg2880Thr)
c.7043G>C (p.Arg2348Thr)
n.9179G>C
6g.51753248C>TCA364426762PKHD1c.8903G>A (p.Arg2968Lys)
c.8774G>A (p.Arg2925Lys)
c.8765G>A (p.Arg2922Lys)
c.8261G>A (p.Arg2754Lys)
c.8192G>A (p.Arg2731Lys)
c.2978G>A (p.Arg993Lys)
c.8828G>A (p.Arg2943Lys)
c.8708G>A (p.Arg2903Lys)
c.8639G>A (p.Arg2880Lys)
c.7043G>A (p.Arg2348Lys)
n.9179G>A
 dbSNP gnomAD v2 gnomAD v4
6g.51753249T>ACA364426767PKHD1c.8902A>T (p.Arg2968Ter)
c.8773A>T (p.Arg2925Ter)
c.8764A>T (p.Arg2922Ter)
c.8260A>T (p.Arg2754Ter)
c.8191A>T (p.Arg2731Ter)
c.2977A>T (p.Arg993Ter)
c.8827A>T (p.Arg2943Ter)
c.8707A>T (p.Arg2903Ter)
c.8638A>T (p.Arg2880Ter)
c.7042A>T (p.Arg2348Ter)
n.9178A>T
6g.51753249T>CCA364426776PKHD1c.8902A>G (p.Arg2968Gly)
c.8773A>G (p.Arg2925Gly)
c.8764A>G (p.Arg2922Gly)
c.8260A>G (p.Arg2754Gly)
c.8191A>G (p.Arg2731Gly)
c.2977A>G (p.Arg993Gly)
c.8827A>G (p.Arg2943Gly)
c.8707A>G (p.Arg2903Gly)
c.8638A>G (p.Arg2880Gly)
c.7042A>G (p.Arg2348Gly)
n.9178A>G
6g.51753249T>GCA450412603PKHD1c.8902A>C (p.Arg2968=)
c.8773A>C (p.Arg2925=)
c.8764A>C (p.Arg2922=)
c.8260A>C (p.Arg2754=)
c.8191A>C (p.Arg2731=)
c.2977A>C (p.Arg993=)
c.8827A>C (p.Arg2943=)
c.8707A>C (p.Arg2903=)
c.8638A>C (p.Arg2880=)
c.7042A>C (p.Arg2348=)
n.9178A>C
 dbSNP
6g.51753249T=CA1628509974PKHD1c.8902A= (p.Arg2968=)
c.8773A= (p.Arg2925=)
c.8764A= (p.Arg2922=)
c.8260A= (p.Arg2754=)
c.8191A= (p.Arg2731=)
c.2977A= (p.Arg993=)
c.8827A= (p.Arg2943=)
c.8707A= (p.Arg2903=)
c.8638A= (p.Arg2880=)
c.7042A= (p.Arg2348=)
n.9178A=
6g.51753249dupCA2695206436PKHD1c.8902dup (p.Arg2968LysfsTer23)
c.8773dup (p.Arg2925LysfsTer23)
c.8764dup (p.Arg2922LysfsTer23)
c.8260dup (p.Arg2754LysfsTer23)
c.8191dup (p.Arg2731LysfsTer23)
c.2977dup (p.Arg993LysfsTer23)
c.8827dup (p.Arg2943LysfsTer23)
c.8707dup (p.Arg2903LysfsTer23)
c.8638dup (p.Arg2880LysfsTer23)
c.7042dup (p.Arg2348LysfsTer23)
n.9178dup
6g.51753250C>ACA450412605PKHD1c.8901G>T (p.Gly2967=)
c.8772G>T (p.Gly2924=)
c.8763G>T (p.Gly2921=)
c.8259G>T (p.Gly2753=)
c.8190G>T (p.Gly2730=)
c.2976G>T (p.Gly992=)
c.8826G>T (p.Gly2942=)
c.8706G>T (p.Gly2902=)
c.8637G>T (p.Gly2879=)
c.7041G>T (p.Gly2347=)
n.9177G>T
6g.51753250C=CA1628509980PKHD1c.8901G= (p.Gly2967=)
c.8772G= (p.Gly2924=)
c.8763G= (p.Gly2921=)
c.8259G= (p.Gly2753=)
c.8190G= (p.Gly2730=)
c.2976G= (p.Gly992=)
c.8826G= (p.Gly2942=)
c.8706G= (p.Gly2902=)
c.8637G= (p.Gly2879=)
c.7041G= (p.Gly2347=)
n.9177G=
6g.51753250C>GCA450412606PKHD1c.8901G>C (p.Gly2967=)
c.8772G>C (p.Gly2924=)
c.8763G>C (p.Gly2921=)
c.8259G>C (p.Gly2753=)
c.8190G>C (p.Gly2730=)
c.2976G>C (p.Gly992=)
c.8826G>C (p.Gly2942=)
c.8706G>C (p.Gly2902=)
c.8637G>C (p.Gly2879=)
c.7041G>C (p.Gly2347=)
n.9177G>C
6g.51753250C>TCA450412607PKHD1c.8901G>A (p.Gly2967=)
c.8772G>A (p.Gly2924=)
c.8763G>A (p.Gly2921=)
c.8259G>A (p.Gly2753=)
c.8190G>A (p.Gly2730=)
c.2976G>A (p.Gly992=)
c.8826G>A (p.Gly2942=)
c.8706G>A (p.Gly2902=)
c.8637G>A (p.Gly2879=)
c.7041G>A (p.Gly2347=)
n.9177G>A
 dbSNP gnomAD v4 COSMIC COSMIC
6g.51753254dupCA2679078816PKHD1c.8901dup (p.Arg2968GlufsTer23)
c.8772dup (p.Arg2925GlufsTer23)
c.8763dup (p.Arg2922GlufsTer23)
c.8259dup (p.Arg2754GlufsTer23)
c.8190dup (p.Arg2731GlufsTer23)
c.2976dup (p.Arg993GlufsTer23)
c.8826dup (p.Arg2943GlufsTer23)
c.8706dup (p.Arg2903GlufsTer23)
c.8637dup (p.Arg2880GlufsTer23)
c.7041dup (p.Arg2348GlufsTer23)
n.9177dup
 gnomAD v4
6g.51753254delCA2695206437PKHD1c.8901del (p.Arg2968AspfsTer?)
c.8772del (p.Arg2925AspfsTer?)
c.8763del (p.Arg2922AspfsTer?)
c.8259del (p.Arg2754AspfsTer?)
c.8190del (p.Arg2731AspfsTer?)
c.2976del (p.Arg993AspfsTer?)
c.8826del (p.Arg2943AspfsTer?)
c.8706del (p.Arg2903AspfsTer?)
c.8637del (p.Arg2880AspfsTer?)
c.7041del (p.Arg2348AspfsTer?)
n.9177del
6g.51753251C>ACA364426784PKHD1c.8900G>T (p.Gly2967Val)
c.8771G>T (p.Gly2924Val)
c.8762G>T (p.Gly2921Val)
c.8258G>T (p.Gly2753Val)
c.8189G>T (p.Gly2730Val)
c.2975G>T (p.Gly992Val)
c.8825G>T (p.Gly2942Val)
c.8705G>T (p.Gly2902Val)
c.8636G>T (p.Gly2879Val)
c.7040G>T (p.Gly2347Val)
n.9176G>T
6g.51753251C>GCA364426785PKHD1c.8900G>C (p.Gly2967Ala)
c.8771G>C (p.Gly2924Ala)
c.8762G>C (p.Gly2921Ala)
c.8258G>C (p.Gly2753Ala)
c.8189G>C (p.Gly2730Ala)
c.2975G>C (p.Gly992Ala)
c.8825G>C (p.Gly2942Ala)
c.8705G>C (p.Gly2902Ala)
c.8636G>C (p.Gly2879Ala)
c.7040G>C (p.Gly2347Ala)
n.9176G>C
6g.51753251C>TCA364426786PKHD1c.8900G>A (p.Gly2967Glu)
c.8771G>A (p.Gly2924Glu)
c.8762G>A (p.Gly2921Glu)
c.8258G>A (p.Gly2753Glu)
c.8189G>A (p.Gly2730Glu)
c.2975G>A (p.Gly992Glu)
c.8825G>A (p.Gly2942Glu)
c.8705G>A (p.Gly2902Glu)
c.8636G>A (p.Gly2879Glu)
c.7040G>A (p.Gly2347Glu)
n.9176G>A
6g.51753252C>ACA364426789PKHD1c.8899G>T (p.Gly2967Trp)
c.8770G>T (p.Gly2924Trp)
c.8761G>T (p.Gly2921Trp)
c.8257G>T (p.Gly2753Trp)
c.8188G>T (p.Gly2730Trp)
c.2974G>T (p.Gly992Trp)
c.8824G>T (p.Gly2942Trp)
c.8704G>T (p.Gly2902Trp)
c.8635G>T (p.Gly2879Trp)
c.7039G>T (p.Gly2347Trp)
n.9175G>T
6g.51753252C>GCA364426790PKHD1c.8899G>C (p.Gly2967Arg)
c.8770G>C (p.Gly2924Arg)
c.8761G>C (p.Gly2921Arg)
c.8257G>C (p.Gly2753Arg)
c.8188G>C (p.Gly2730Arg)
c.2974G>C (p.Gly992Arg)
c.8824G>C (p.Gly2942Arg)
c.8704G>C (p.Gly2902Arg)
c.8635G>C (p.Gly2879Arg)
c.7039G>C (p.Gly2347Arg)
n.9175G>C
 gnomAD v4
6g.51753252C>TCA364426791PKHD1c.8899G>A (p.Gly2967Arg)
c.8770G>A (p.Gly2924Arg)
c.8761G>A (p.Gly2921Arg)
c.8257G>A (p.Gly2753Arg)
c.8188G>A (p.Gly2730Arg)
c.2974G>A (p.Gly992Arg)
c.8824G>A (p.Gly2942Arg)
c.8704G>A (p.Gly2902Arg)
c.8635G>A (p.Gly2879Arg)
c.7039G>A (p.Gly2347Arg)
n.9175G>A
 ClinVar COSMIC COSMIC
6g.51753253C>ACA364426792PKHD1c.8898G>T (p.Arg2966Ser)
c.8769G>T (p.Arg2923Ser)
c.8760G>T (p.Arg2920Ser)
c.8256G>T (p.Arg2752Ser)
c.8187G>T (p.Arg2729Ser)
c.2973G>T (p.Arg991Ser)
c.8823G>T (p.Arg2941Ser)
c.8703G>T (p.Arg2901Ser)
c.8634G>T (p.Arg2878Ser)
c.7038G>T (p.Arg2346Ser)
n.9174G>T
 dbSNP gnomAD v3 gnomAD v4
6g.51753253C=CA1628509989PKHD1c.8898G= (p.Arg2966=)
c.8769G= (p.Arg2923=)
c.8760G= (p.Arg2920=)
c.8256G= (p.Arg2752=)
c.8187G= (p.Arg2729=)
c.2973G= (p.Arg991=)
c.8823G= (p.Arg2941=)
c.8703G= (p.Arg2901=)
c.8634G= (p.Arg2878=)
c.7038G= (p.Arg2346=)
n.9174G=
6g.51753253C>GCA364426794PKHD1c.8898G>C (p.Arg2966Ser)
c.8769G>C (p.Arg2923Ser)
c.8760G>C (p.Arg2920Ser)
c.8256G>C (p.Arg2752Ser)
c.8187G>C (p.Arg2729Ser)
c.2973G>C (p.Arg991Ser)
c.8823G>C (p.Arg2941Ser)
c.8703G>C (p.Arg2901Ser)
c.8634G>C (p.Arg2878Ser)
c.7038G>C (p.Arg2346Ser)
n.9174G>C
6g.51753253C>TCA3851496PKHD1c.8898G>A (p.Arg2966=)
c.8769G>A (p.Arg2923=)
c.8760G>A (p.Arg2920=)
c.8256G>A (p.Arg2752=)
c.8187G>A (p.Arg2729=)
c.2973G>A (p.Arg991=)
c.8823G>A (p.Arg2941=)
c.8703G>A (p.Arg2901=)
c.8634G>A (p.Arg2878=)
c.7038G>A (p.Arg2346=)
n.9174G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51753254C>ACA364426800PKHD1c.8897G>T (p.Arg2966Met)
c.8768G>T (p.Arg2923Met)
c.8759G>T (p.Arg2920Met)
c.8255G>T (p.Arg2752Met)
c.8186G>T (p.Arg2729Met)
c.2972G>T (p.Arg991Met)
c.8822G>T (p.Arg2941Met)
c.8702G>T (p.Arg2901Met)
c.8633G>T (p.Arg2878Met)
c.7037G>T (p.Arg2346Met)
n.9173G>T
 gnomAD v4
6g.51753254C>GCA364426799PKHD1c.8897G>C (p.Arg2966Thr)
c.8768G>C (p.Arg2923Thr)
c.8759G>C (p.Arg2920Thr)
c.8255G>C (p.Arg2752Thr)
c.8186G>C (p.Arg2729Thr)
c.2972G>C (p.Arg991Thr)
c.8822G>C (p.Arg2941Thr)
c.8702G>C (p.Arg2901Thr)
c.8633G>C (p.Arg2878Thr)
c.7037G>C (p.Arg2346Thr)
n.9173G>C
6g.51753254C>TCA364426797PKHD1c.8897G>A (p.Arg2966Lys)
c.8768G>A (p.Arg2923Lys)
c.8759G>A (p.Arg2920Lys)
c.8255G>A (p.Arg2752Lys)
c.8186G>A (p.Arg2729Lys)
c.2972G>A (p.Arg991Lys)
c.8822G>A (p.Arg2941Lys)
c.8702G>A (p.Arg2901Lys)
c.8633G>A (p.Arg2878Lys)
c.7037G>A (p.Arg2346Lys)
n.9173G>A
6g.51753255T>ACA364426807PKHD1c.8896A>T (p.Arg2966Trp)
c.8767A>T (p.Arg2923Trp)
c.8758A>T (p.Arg2920Trp)
c.8254A>T (p.Arg2752Trp)
c.8185A>T (p.Arg2729Trp)
c.2971A>T (p.Arg991Trp)
c.8821A>T (p.Arg2941Trp)
c.8701A>T (p.Arg2901Trp)
c.8632A>T (p.Arg2878Trp)
c.7036A>T (p.Arg2346Trp)
n.9172A>T
6g.51753255T>CCA364426809PKHD1c.8896A>G (p.Arg2966Gly)
c.8767A>G (p.Arg2923Gly)
c.8758A>G (p.Arg2920Gly)
c.8254A>G (p.Arg2752Gly)
c.8185A>G (p.Arg2729Gly)
c.2971A>G (p.Arg991Gly)
c.8821A>G (p.Arg2941Gly)
c.8701A>G (p.Arg2901Gly)
c.8632A>G (p.Arg2878Gly)
c.7036A>G (p.Arg2346Gly)
n.9172A>G
6g.51753255T>GCA450412613PKHD1c.8896A>C (p.Arg2966=)
c.8767A>C (p.Arg2923=)
c.8758A>C (p.Arg2920=)
c.8254A>C (p.Arg2752=)
c.8185A>C (p.Arg2729=)
c.2971A>C (p.Arg991=)
c.8821A>C (p.Arg2941=)
c.8701A>C (p.Arg2901=)
c.8632A>C (p.Arg2878=)
c.7036A>C (p.Arg2346=)
n.9172A>C
6g.51753256A=CA1628509999PKHD1c.8895T= (p.Cys2965=)
c.8766T= (p.Cys2922=)
c.8757T= (p.Cys2919=)
c.8253T= (p.Cys2751=)
c.8184T= (p.Cys2728=)
c.2970T= (p.Cys990=)
c.8820T= (p.Cys2940=)
c.8700T= (p.Cys2900=)
c.8631T= (p.Cys2877=)
c.7035T= (p.Cys2345=)
n.9171T=
6g.51753256A>CCA364426811PKHD1c.8895T>G (p.Cys2965Trp)
c.8766T>G (p.Cys2922Trp)
c.8757T>G (p.Cys2919Trp)
c.8253T>G (p.Cys2751Trp)
c.8184T>G (p.Cys2728Trp)
c.2970T>G (p.Cys990Trp)
c.8820T>G (p.Cys2940Trp)
c.8700T>G (p.Cys2900Trp)
c.8631T>G (p.Cys2877Trp)
c.7035T>G (p.Cys2345Trp)
n.9171T>G
6g.51753256A>GCA3851497PKHD1c.8895T>C (p.Cys2965=)
c.8766T>C (p.Cys2922=)
c.8757T>C (p.Cys2919=)
c.8253T>C (p.Cys2751=)
c.8184T>C (p.Cys2728=)
c.2970T>C (p.Cys990=)
c.8820T>C (p.Cys2940=)
c.8700T>C (p.Cys2900=)
c.8631T>C (p.Cys2877=)
c.7035T>C (p.Cys2345=)
n.9171T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51753256A>TCA364426814PKHD1c.8895T>A (p.Cys2965Ter)
c.8766T>A (p.Cys2922Ter)
c.8757T>A (p.Cys2919Ter)
c.8253T>A (p.Cys2751Ter)
c.8184T>A (p.Cys2728Ter)
c.2970T>A (p.Cys990Ter)
c.8820T>A (p.Cys2940Ter)
c.8700T>A (p.Cys2900Ter)
c.8631T>A (p.Cys2877Ter)
c.7035T>A (p.Cys2345Ter)
n.9171T>A
6g.51753257C>ACA364426817PKHD1c.8894G>T (p.Cys2965Phe)
c.8765G>T (p.Cys2922Phe)
c.8756G>T (p.Cys2919Phe)
c.8252G>T (p.Cys2751Phe)
c.8183G>T (p.Cys2728Phe)
c.2969G>T (p.Cys990Phe)
c.8819G>T (p.Cys2940Phe)
c.8699G>T (p.Cys2900Phe)
c.8630G>T (p.Cys2877Phe)
c.7034G>T (p.Cys2345Phe)
n.9170G>T
 dbSNP
6g.51753257C=CA1628510006PKHD1c.8894G= (p.Cys2965=)
c.8765G= (p.Cys2922=)
c.8756G= (p.Cys2919=)
c.8252G= (p.Cys2751=)
c.8183G= (p.Cys2728=)
c.2969G= (p.Cys990=)
c.8819G= (p.Cys2940=)
c.8699G= (p.Cys2900=)
c.8630G= (p.Cys2877=)
c.7034G= (p.Cys2345=)
n.9170G=
6g.51753257C>GCA364426819PKHD1c.8894G>C (p.Cys2965Ser)
c.8765G>C (p.Cys2922Ser)
c.8756G>C (p.Cys2919Ser)
c.8252G>C (p.Cys2751Ser)
c.8183G>C (p.Cys2728Ser)
c.2969G>C (p.Cys990Ser)
c.8819G>C (p.Cys2940Ser)
c.8699G>C (p.Cys2900Ser)
c.8630G>C (p.Cys2877Ser)
c.7034G>C (p.Cys2345Ser)
n.9170G>C
6g.51753257C>TCA364426821PKHD1c.8894G>A (p.Cys2965Tyr)
c.8765G>A (p.Cys2922Tyr)
c.8756G>A (p.Cys2919Tyr)
c.8252G>A (p.Cys2751Tyr)
c.8183G>A (p.Cys2728Tyr)
c.2969G>A (p.Cys990Tyr)
c.8819G>A (p.Cys2940Tyr)
c.8699G>A (p.Cys2900Tyr)
c.8630G>A (p.Cys2877Tyr)
c.7034G>A (p.Cys2345Tyr)
n.9170G>A
 ClinVar dbSNP
6g.51753258A=CA1628510013PKHD1c.8893T= (p.Cys2965=)
c.8764T= (p.Cys2922=)
c.8755T= (p.Cys2919=)
c.8251T= (p.Cys2751=)
c.8182T= (p.Cys2728=)
c.2968T= (p.Cys990=)
c.8818T= (p.Cys2940=)
c.8698T= (p.Cys2900=)
c.8629T= (p.Cys2877=)
c.7033T= (p.Cys2345=)
n.9169T=
6g.51753258A>CCA364426827PKHD1c.8893T>G (p.Cys2965Gly)
c.8764T>G (p.Cys2922Gly)
c.8755T>G (p.Cys2919Gly)
c.8251T>G (p.Cys2751Gly)
c.8182T>G (p.Cys2728Gly)
c.2968T>G (p.Cys990Gly)
c.8818T>G (p.Cys2940Gly)
c.8698T>G (p.Cys2900Gly)
c.8629T>G (p.Cys2877Gly)
c.7033T>G (p.Cys2345Gly)
n.9169T>G
6g.51753258A>GCA3851498PKHD1c.8893T>C (p.Cys2965Arg)
c.8764T>C (p.Cys2922Arg)
c.8755T>C (p.Cys2919Arg)
c.8251T>C (p.Cys2751Arg)
c.8182T>C (p.Cys2728Arg)
c.2968T>C (p.Cys990Arg)
c.8818T>C (p.Cys2940Arg)
c.8698T>C (p.Cys2900Arg)
c.8629T>C (p.Cys2877Arg)
c.7033T>C (p.Cys2345Arg)
n.9169T>C
 ClinVar dbSNP ExAC gnomAD v4
6g.51753258A>TCA364426830PKHD1c.8893T>A (p.Cys2965Ser)
c.8764T>A (p.Cys2922Ser)
c.8755T>A (p.Cys2919Ser)
c.8251T>A (p.Cys2751Ser)
c.8182T>A (p.Cys2728Ser)
c.2968T>A (p.Cys990Ser)
c.8818T>A (p.Cys2940Ser)
c.8698T>A (p.Cys2900Ser)
c.8629T>A (p.Cys2877Ser)
c.7033T>A (p.Cys2345Ser)
n.9169T>A
6g.51753259T>ACA450412617PKHD1c.8892A>T (p.Ser2964=)
c.8763A>T (p.Ser2921=)
c.8754A>T (p.Ser2918=)
c.8250A>T (p.Ser2750=)
c.8181A>T (p.Ser2727=)
c.2967A>T (p.Ser989=)
c.8817A>T (p.Ser2939=)
c.8697A>T (p.Ser2899=)
c.8628A>T (p.Ser2876=)
c.7032A>T (p.Ser2344=)
n.9168A>T
6g.51753259T>CCA3851499PKHD1c.8892A>G (p.Ser2964=)
c.8763A>G (p.Ser2921=)
c.8754A>G (p.Ser2918=)
c.8250A>G (p.Ser2750=)
c.8181A>G (p.Ser2727=)
c.2967A>G (p.Ser989=)
c.8817A>G (p.Ser2939=)
c.8697A>G (p.Ser2899=)
c.8628A>G (p.Ser2876=)
c.7032A>G (p.Ser2344=)
n.9168A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51753259T>GCA450412620PKHD1c.8892A>C (p.Ser2964=)
c.8763A>C (p.Ser2921=)
c.8754A>C (p.Ser2918=)
c.8250A>C (p.Ser2750=)
c.8181A>C (p.Ser2727=)
c.2967A>C (p.Ser989=)
c.8817A>C (p.Ser2939=)
c.8697A>C (p.Ser2899=)
c.8628A>C (p.Ser2876=)
c.7032A>C (p.Ser2344=)
n.9168A>C
6g.51753259T=CA1628510017PKHD1c.8892A= (p.Ser2964=)
c.8763A= (p.Ser2921=)
c.8754A= (p.Ser2918=)
c.8250A= (p.Ser2750=)
c.8181A= (p.Ser2727=)
c.2967A= (p.Ser989=)
c.8817A= (p.Ser2939=)
c.8697A= (p.Ser2899=)
c.8628A= (p.Ser2876=)
c.7032A= (p.Ser2344=)
n.9168A=
6g.51753260G>ACA364426838PKHD1c.8891C>T (p.Ser2964Leu)
c.8762C>T (p.Ser2921Leu)
c.8753C>T (p.Ser2918Leu)
c.8249C>T (p.Ser2750Leu)
c.8180C>T (p.Ser2727Leu)
c.2966C>T (p.Ser989Leu)
c.8816C>T (p.Ser2939Leu)
c.8696C>T (p.Ser2899Leu)
c.8627C>T (p.Ser2876Leu)
c.7031C>T (p.Ser2344Leu)
c.*1495C>T (n.*1495C>T)
n.9167C>T
 gnomAD v4
6g.51753260G>CCA364426835PKHD1c.8891C>G (p.Ser2964Ter)
c.8762C>G (p.Ser2921Ter)
c.8753C>G (p.Ser2918Ter)
c.8249C>G (p.Ser2750Ter)
c.8180C>G (p.Ser2727Ter)
c.2966C>G (p.Ser989Ter)
c.8816C>G (p.Ser2939Ter)
c.8696C>G (p.Ser2899Ter)
c.8627C>G (p.Ser2876Ter)
c.7031C>G (p.Ser2344Ter)
c.*1495C>G (n.*1495C>G)
n.9167C>G
6g.51753260G>TCA364426834PKHD1c.8891C>A (p.Ser2964Ter)
c.8762C>A (p.Ser2921Ter)
c.8753C>A (p.Ser2918Ter)
c.8249C>A (p.Ser2750Ter)
c.8180C>A (p.Ser2727Ter)
c.2966C>A (p.Ser989Ter)
c.8816C>A (p.Ser2939Ter)
c.8696C>A (p.Ser2899Ter)
c.8627C>A (p.Ser2876Ter)
c.7031C>A (p.Ser2344Ter)
c.*1495C>A (n.*1495C>A)
n.9167C>A
6g.51753261A>CCA364426841PKHD1c.8890T>G (p.Ser2964Ala)
c.8761T>G (p.Ser2921Ala)
c.8752T>G (p.Ser2918Ala)
c.8248T>G (p.Ser2750Ala)
c.8179T>G (p.Ser2727Ala)
c.2965T>G (p.Ser989Ala)
c.8815T>G (p.Ser2939Ala)
c.8695T>G (p.Ser2899Ala)
c.8626T>G (p.Ser2876Ala)
c.7030T>G (p.Ser2344Ala)
c.*1494T>G (n.*1494T>G)
n.9166T>G
6g.51753261A>GCA364426846PKHD1c.8890T>C (p.Ser2964Pro)
c.8761T>C (p.Ser2921Pro)
c.8752T>C (p.Ser2918Pro)
c.8248T>C (p.Ser2750Pro)
c.8179T>C (p.Ser2727Pro)
c.2965T>C (p.Ser989Pro)
c.8815T>C (p.Ser2939Pro)
c.8695T>C (p.Ser2899Pro)
c.8626T>C (p.Ser2876Pro)
c.7030T>C (p.Ser2344Pro)
c.*1494T>C (n.*1494T>C)
n.9166T>C
6g.51753261A>TCA364426848PKHD1c.8890T>A (p.Ser2964Thr)
c.8761T>A (p.Ser2921Thr)
c.8752T>A (p.Ser2918Thr)
c.8248T>A (p.Ser2750Thr)
c.8179T>A (p.Ser2727Thr)
c.2965T>A (p.Ser989Thr)
c.8815T>A (p.Ser2939Thr)
c.8695T>A (p.Ser2899Thr)
c.8626T>A (p.Ser2876Thr)
c.7030T>A (p.Ser2344Thr)
c.*1494T>A (n.*1494T>A)
n.9166T>A
6g.51753262T>ACA450412622PKHD1c.8889A>T (p.Val2963=)
c.8760A>T (p.Val2920=)
c.8751A>T (p.Val2917=)
c.8247A>T (p.Val2749=)
c.8178A>T (p.Val2726=)
c.2964A>T (p.Val988=)
c.8814A>T (p.Val2938=)
c.8694A>T (p.Val2898=)
c.8625A>T (p.Val2875=)
c.7029A>T (p.Val2343=)
c.*1493A>T (n.*1493A>T)
n.9165A>T
6g.51753262T>CCA450412624PKHD1c.8889A>G (p.Val2963=)
c.8760A>G (p.Val2920=)
c.8751A>G (p.Val2917=)
c.8247A>G (p.Val2749=)
c.8178A>G (p.Val2726=)
c.2964A>G (p.Val988=)
c.8814A>G (p.Val2938=)
c.8694A>G (p.Val2898=)
c.8625A>G (p.Val2875=)
c.7029A>G (p.Val2343=)
c.*1493A>G (n.*1493A>G)
n.9165A>G
 COSMIC COSMIC
6g.51753262T>GCA450412626PKHD1c.8889A>C (p.Val2963=)
c.8760A>C (p.Val2920=)
c.8751A>C (p.Val2917=)
c.8247A>C (p.Val2749=)
c.8178A>C (p.Val2726=)
c.2964A>C (p.Val988=)
c.8814A>C (p.Val2938=)
c.8694A>C (p.Val2898=)
c.8625A>C (p.Val2875=)
c.7029A>C (p.Val2343=)
c.*1493A>C (n.*1493A>C)
n.9165A>C
 ClinVar
6g.51753263A>CCA364426851PKHD1c.8888T>G (p.Val2963Gly)
c.8759T>G (p.Val2920Gly)
c.8750T>G (p.Val2917Gly)
c.8246T>G (p.Val2749Gly)
c.8177T>G (p.Val2726Gly)
c.2963T>G (p.Val988Gly)
c.8813T>G (p.Val2938Gly)
c.8693T>G (p.Val2898Gly)
c.8624T>G (p.Val2875Gly)
c.7028T>G (p.Val2343Gly)
c.*1492T>G (n.*1492T>G)
n.9164T>G
6g.51753263A>GCA364426856PKHD1c.8888T>C (p.Val2963Ala)
c.8759T>C (p.Val2920Ala)
c.8750T>C (p.Val2917Ala)
c.8246T>C (p.Val2749Ala)
c.8177T>C (p.Val2726Ala)
c.2963T>C (p.Val988Ala)
c.8813T>C (p.Val2938Ala)
c.8693T>C (p.Val2898Ala)
c.8624T>C (p.Val2875Ala)
c.7028T>C (p.Val2343Ala)
c.*1492T>C (n.*1492T>C)
n.9164T>C
6g.51753263A>TCA364426857PKHD1c.8888T>A (p.Val2963Glu)
c.8759T>A (p.Val2920Glu)
c.8750T>A (p.Val2917Glu)
c.8246T>A (p.Val2749Glu)
c.8177T>A (p.Val2726Glu)
c.2963T>A (p.Val988Glu)
c.8813T>A (p.Val2938Glu)
c.8693T>A (p.Val2898Glu)
c.8624T>A (p.Val2875Glu)
c.7028T>A (p.Val2343Glu)
c.*1492T>A (n.*1492T>A)
n.9164T>A
6g.51753263_51753264delCA2771049338PKHD1c.8887_8888del (p.Val2963IlefsTer3)
c.8758_8759del (p.Val2920IlefsTer3)
c.8749_8750del (p.Val2917IlefsTer3)
c.8245_8246del (p.Val2749IlefsTer3)
c.8176_8177del (p.Val2726IlefsTer3)
c.2962_2963del (p.Val988IlefsTer3)
c.8812_8813del (p.Val2938IlefsTer3)
c.8692_8693del (p.Val2898IlefsTer3)
c.8623_8624del (p.Val2875IlefsTer3)
c.7027_7028del (p.Val2343IlefsTer3)
c.*1491_*1492del (n.*1491_*1492del)
n.9163_9164del
6g.51753264C>ACA364426859PKHD1c.8887G>T (p.Val2963Leu)
c.8758G>T (p.Val2920Leu)
c.8749G>T (p.Val2917Leu)
c.8245G>T (p.Val2749Leu)
c.8176G>T (p.Val2726Leu)
c.2962G>T (p.Val988Leu)
c.8812G>T (p.Val2938Leu)
c.8692G>T (p.Val2898Leu)
c.8623G>T (p.Val2875Leu)
c.7027G>T (p.Val2343Leu)
c.*1491G>T (n.*1491G>T)
n.9163G>T
 gnomAD v4
6g.51753264C=CA1628510023PKHD1c.8887G= (p.Val2963=)
c.8758G= (p.Val2920=)
c.8749G= (p.Val2917=)
c.8245G= (p.Val2749=)
c.8176G= (p.Val2726=)
c.2962G= (p.Val988=)
c.8812G= (p.Val2938=)
c.8692G= (p.Val2898=)
c.8623G= (p.Val2875=)
c.7027G= (p.Val2343=)
c.*1491G= (n.*1491G=)
n.9163G=
6g.51753264C>GCA364426860PKHD1c.8887G>C (p.Val2963Leu)
c.8758G>C (p.Val2920Leu)
c.8749G>C (p.Val2917Leu)
c.8245G>C (p.Val2749Leu)
c.8176G>C (p.Val2726Leu)
c.2962G>C (p.Val988Leu)
c.8812G>C (p.Val2938Leu)
c.8692G>C (p.Val2898Leu)
c.8623G>C (p.Val2875Leu)
c.7027G>C (p.Val2343Leu)
c.*1491G>C (n.*1491G>C)
n.9163G>C
6g.51753264C>TCA3851500PKHD1c.8887G>A (p.Val2963Ile)
c.8758G>A (p.Val2920Ile)
c.8749G>A (p.Val2917Ile)
c.8245G>A (p.Val2749Ile)
c.8176G>A (p.Val2726Ile)
c.2962G>A (p.Val988Ile)
c.8812G>A (p.Val2938Ile)
c.8692G>A (p.Val2898Ile)
c.8623G>A (p.Val2875Ile)
c.7027G>A (p.Val2343Ile)
c.*1491G>A (n.*1491G>A)
n.9163G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51753265G>ACA3851501PKHD1c.8886C>T (p.Asp2962=)
c.8757C>T (p.Asp2919=)
c.8748C>T (p.Asp2916=)
c.8244C>T (p.Asp2748=)
c.8175C>T (p.Asp2725=)
c.2961C>T (p.Asp987=)
c.8811C>T (p.Asp2937=)
c.8691C>T (p.Asp2897=)
c.8622C>T (p.Asp2874=)
c.7026C>T (p.Asp2342=)
c.*1490C>T (n.*1490C>T)
n.9162C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51753265G>CCA364426864PKHD1c.8886C>G (p.Asp2962Glu)
c.8757C>G (p.Asp2919Glu)
c.8748C>G (p.Asp2916Glu)
c.8244C>G (p.Asp2748Glu)
c.8175C>G (p.Asp2725Glu)
c.2961C>G (p.Asp987Glu)
c.8811C>G (p.Asp2937Glu)
c.8691C>G (p.Asp2897Glu)
c.8622C>G (p.Asp2874Glu)
c.7026C>G (p.Asp2342Glu)
c.*1490C>G (n.*1490C>G)
n.9162C>G
6g.51753265G=CA1628510037PKHD1c.8886C= (p.Asp2962=)
c.8757C= (p.Asp2919=)
c.8748C= (p.Asp2916=)
c.8244C= (p.Asp2748=)
c.8175C= (p.Asp2725=)
c.2961C= (p.Asp987=)
c.8811C= (p.Asp2937=)
c.8691C= (p.Asp2897=)
c.8622C= (p.Asp2874=)
c.7026C= (p.Asp2342=)
c.*1490C= (n.*1490C=)
n.9162C=
6g.51753265G>TCA364426865PKHD1c.8886C>A (p.Asp2962Glu)
c.8757C>A (p.Asp2919Glu)
c.8748C>A (p.Asp2916Glu)
c.8244C>A (p.Asp2748Glu)
c.8175C>A (p.Asp2725Glu)
c.2961C>A (p.Asp987Glu)
c.8811C>A (p.Asp2937Glu)
c.8691C>A (p.Asp2897Glu)
c.8622C>A (p.Asp2874Glu)
c.7026C>A (p.Asp2342Glu)
c.*1490C>A (n.*1490C>A)
n.9162C>A
6g.51753265_51753283dupCA2679078817PKHD1c.8868_8886dup (p.Val2963TyrfsTer6)
c.8739_8757dup (p.Val2920TyrfsTer6)
c.8730_8748dup (p.Val2917TyrfsTer6)
c.8226_8244dup (p.Val2749TyrfsTer6)
c.8157_8175dup (p.Val2726TyrfsTer6)
c.2943_2961dup (p.Val988TyrfsTer6)
c.8793_8811dup (p.Val2938TyrfsTer6)
c.8673_8691dup (p.Val2898TyrfsTer6)
c.8604_8622dup (p.Val2875TyrfsTer6)
c.7008_7026dup (p.Val2343TyrfsTer6)
c.*1472_*1490dup (n.*1472_*1490dup)
n.9144_9162dup
 gnomAD v4
6g.51753266T>ACA364426875PKHD1c.8885A>T (p.Asp2962Val)
c.8756A>T (p.Asp2919Val)
c.8747A>T (p.Asp2916Val)
c.8243A>T (p.Asp2748Val)
c.8174A>T (p.Asp2725Val)
c.2960A>T (p.Asp987Val)
c.8810A>T (p.Asp2937Val)
c.8690A>T (p.Asp2897Val)
c.8621A>T (p.Asp2874Val)
c.7025A>T (p.Asp2342Val)
c.*1489A>T (n.*1489A>T)
n.9161A>T
6g.51753266T>CCA364426876PKHD1c.8885A>G (p.Asp2962Gly)
c.8756A>G (p.Asp2919Gly)
c.8747A>G (p.Asp2916Gly)
c.8243A>G (p.Asp2748Gly)
c.8174A>G (p.Asp2725Gly)
c.2960A>G (p.Asp987Gly)
c.8810A>G (p.Asp2937Gly)
c.8690A>G (p.Asp2897Gly)
c.8621A>G (p.Asp2874Gly)
c.7025A>G (p.Asp2342Gly)
c.*1489A>G (n.*1489A>G)
n.9161A>G
 ClinVar dbSNP gnomAD v4
6g.51753266T>GCA364426866PKHD1c.8885A>C (p.Asp2962Ala)
c.8756A>C (p.Asp2919Ala)
c.8747A>C (p.Asp2916Ala)
c.8243A>C (p.Asp2748Ala)
c.8174A>C (p.Asp2725Ala)
c.2960A>C (p.Asp987Ala)
c.8810A>C (p.Asp2937Ala)
c.8690A>C (p.Asp2897Ala)
c.8621A>C (p.Asp2874Ala)
c.7025A>C (p.Asp2342Ala)
c.*1489A>C (n.*1489A>C)
n.9161A>C
6g.51753266T=CA1628510040PKHD1c.8885A= (p.Asp2962=)
c.8756A= (p.Asp2919=)
c.8747A= (p.Asp2916=)
c.8243A= (p.Asp2748=)
c.8174A= (p.Asp2725=)
c.2960A= (p.Asp987=)
c.8810A= (p.Asp2937=)
c.8690A= (p.Asp2897=)
c.8621A= (p.Asp2874=)
c.7025A= (p.Asp2342=)
c.*1489A= (n.*1489A=)
n.9161A=
6g.51753266_51753267insATCCCCA2771049342PKHD1c.8884_8885insGGGAT (p.Asp2962GlyfsTer?)
c.8755_8756insGGGAT (p.Asp2919GlyfsTer?)
c.8746_8747insGGGAT (p.Asp2916GlyfsTer?)
c.8242_8243insGGGAT (p.Asp2748GlyfsTer?)
c.8173_8174insGGGAT (p.Asp2725GlyfsTer?)
c.2959_2960insGGGAT (p.Asp987GlyfsTer?)
c.8809_8810insGGGAT (p.Asp2937GlyfsTer?)
c.8689_8690insGGGAT (p.Asp2897GlyfsTer?)
c.8620_8621insGGGAT (p.Asp2874GlyfsTer?)
c.7024_7025insGGGAT (p.Asp2342GlyfsTer?)
c.*1488_*1489insGGGAT (n.*1488_*1489insGGGAT)
n.9160_9161insGGGAT
6g.51753267C>ACA364426878PKHD1c.8884G>T (p.Asp2962Tyr)
c.8755G>T (p.Asp2919Tyr)
c.8746G>T (p.Asp2916Tyr)
c.8242G>T (p.Asp2748Tyr)
c.8173G>T (p.Asp2725Tyr)
c.2959G>T (p.Asp987Tyr)
c.8809G>T (p.Asp2937Tyr)
c.8689G>T (p.Asp2897Tyr)
c.8620G>T (p.Asp2874Tyr)
c.7024G>T (p.Asp2342Tyr)
c.*1488G>T (n.*1488G>T)
n.9160G>T
6g.51753267C=CA1628510048PKHD1c.8884G= (p.Asp2962=)
c.8755G= (p.Asp2919=)
c.8746G= (p.Asp2916=)
c.8242G= (p.Asp2748=)
c.8173G= (p.Asp2725=)
c.2959G= (p.Asp987=)
c.8809G= (p.Asp2937=)
c.8689G= (p.Asp2897=)
c.8620G= (p.Asp2874=)
c.7024G= (p.Asp2342=)
c.*1488G= (n.*1488G=)
n.9160G=
6g.51753267C>GCA364426880PKHD1c.8884G>C (p.Asp2962His)
c.8755G>C (p.Asp2919His)
c.8746G>C (p.Asp2916His)
c.8242G>C (p.Asp2748His)
c.8173G>C (p.Asp2725His)
c.2959G>C (p.Asp987His)
c.8809G>C (p.Asp2937His)
c.8689G>C (p.Asp2897His)
c.8620G>C (p.Asp2874His)
c.7024G>C (p.Asp2342His)
c.*1488G>C (n.*1488G>C)
n.9160G>C
6g.51753267C>TCA138898932PKHD1c.8884G>A (p.Asp2962Asn)
c.8755G>A (p.Asp2919Asn)
c.8746G>A (p.Asp2916Asn)
c.8242G>A (p.Asp2748Asn)
c.8173G>A (p.Asp2725Asn)
c.2959G>A (p.Asp987Asn)
c.8809G>A (p.Asp2937Asn)
c.8689G>A (p.Asp2897Asn)
c.8620G>A (p.Asp2874Asn)
c.7024G>A (p.Asp2342Asn)
c.*1488G>A (n.*1488G>A)
n.9160G>A
 dbSNP
6g.51753268A>CCA450412632PKHD1c.8883T>G (p.Pro2961=)
c.8754T>G (p.Pro2918=)
c.8745T>G (p.Pro2915=)
c.8241T>G (p.Pro2747=)
c.8172T>G (p.Pro2724=)
c.2958T>G (p.Pro986=)
c.8808T>G (p.Pro2936=)
c.8688T>G (p.Pro2896=)
c.8619T>G (p.Pro2873=)
c.7023T>G (p.Pro2341=)
c.*1487T>G (n.*1487T>G)
n.9159T>G
6g.51753268A>GCA450412633PKHD1c.8883T>C (p.Pro2961=)
c.8754T>C (p.Pro2918=)
c.8745T>C (p.Pro2915=)
c.8241T>C (p.Pro2747=)
c.8172T>C (p.Pro2724=)
c.2958T>C (p.Pro986=)
c.8808T>C (p.Pro2936=)
c.8688T>C (p.Pro2896=)
c.8619T>C (p.Pro2873=)
c.7023T>C (p.Pro2341=)
c.*1487T>C (n.*1487T>C)
n.9159T>C
6g.51753268A>TCA450412634PKHD1c.8883T>A (p.Pro2961=)
c.8754T>A (p.Pro2918=)
c.8745T>A (p.Pro2915=)
c.8241T>A (p.Pro2747=)
c.8172T>A (p.Pro2724=)
c.2958T>A (p.Pro986=)
c.8808T>A (p.Pro2936=)
c.8688T>A (p.Pro2896=)
c.8619T>A (p.Pro2873=)
c.7023T>A (p.Pro2341=)
c.*1487T>A (n.*1487T>A)
n.9159T>A
6g.51753268_51753270delCA2771049344PKHD1c.8881_8883del (p.Pro2961del)
c.8752_8754del (p.Pro2918del)
c.8743_8745del (p.Pro2915del)
c.8239_8241del (p.Pro2747del)
c.8170_8172del (p.Pro2724del)
c.2956_2958del (p.Pro986del)
c.8806_8808del (p.Pro2936del)
c.8686_8688del (p.Pro2896del)
c.8617_8619del (p.Pro2873del)
c.7021_7023del (p.Pro2341del)
c.*1485_*1487del (n.*1485_*1487del)
n.9157_9159del
6g.51753269G>ACA364426884PKHD1c.8882C>T (p.Pro2961Leu)
c.8753C>T (p.Pro2918Leu)
c.8744C>T (p.Pro2915Leu)
c.8240C>T (p.Pro2747Leu)
c.8171C>T (p.Pro2724Leu)
c.2957C>T (p.Pro986Leu)
c.8807C>T (p.Pro2936Leu)
c.8687C>T (p.Pro2896Leu)
c.8618C>T (p.Pro2873Leu)
c.7022C>T (p.Pro2341Leu)
c.*1486C>T (n.*1486C>T)
n.9158C>T
 dbSNP gnomAD v3 gnomAD v4
6g.51753269G>CCA364426886PKHD1c.8882C>G (p.Pro2961Arg)
c.8753C>G (p.Pro2918Arg)
c.8744C>G (p.Pro2915Arg)
c.8240C>G (p.Pro2747Arg)
c.8171C>G (p.Pro2724Arg)
c.2957C>G (p.Pro986Arg)
c.8807C>G (p.Pro2936Arg)
c.8687C>G (p.Pro2896Arg)
c.8618C>G (p.Pro2873Arg)
c.7022C>G (p.Pro2341Arg)
c.*1486C>G (n.*1486C>G)
n.9158C>G
6g.51753269G=CA1628510053PKHD1c.8882C= (p.Pro2961=)
c.8753C= (p.Pro2918=)
c.8744C= (p.Pro2915=)
c.8240C= (p.Pro2747=)
c.8171C= (p.Pro2724=)
c.2957C= (p.Pro986=)
c.8807C= (p.Pro2936=)
c.8687C= (p.Pro2896=)
c.8618C= (p.Pro2873=)
c.7022C= (p.Pro2341=)
c.*1486C= (n.*1486C=)
n.9158C=
6g.51753269G>TCA364426890PKHD1c.8882C>A (p.Pro2961His)
c.8753C>A (p.Pro2918His)
c.8744C>A (p.Pro2915His)
c.8240C>A (p.Pro2747His)
c.8171C>A (p.Pro2724His)
c.2957C>A (p.Pro986His)
c.8807C>A (p.Pro2936His)
c.8687C>A (p.Pro2896His)
c.8618C>A (p.Pro2873His)
c.7022C>A (p.Pro2341His)
c.*1486C>A (n.*1486C>A)
n.9158C>A
 COSMIC COSMIC
6g.51753270G>ACA364426893PKHD1c.8881C>T (p.Pro2961Ser)
c.8752C>T (p.Pro2918Ser)
c.8743C>T (p.Pro2915Ser)
c.8239C>T (p.Pro2747Ser)
c.8170C>T (p.Pro2724Ser)
c.2956C>T (p.Pro986Ser)
c.8806C>T (p.Pro2936Ser)
c.8686C>T (p.Pro2896Ser)
c.8617C>T (p.Pro2873Ser)
c.7021C>T (p.Pro2341Ser)
c.*1485C>T (n.*1485C>T)
n.9157C>T
6g.51753270G>CCA364426897PKHD1c.8881C>G (p.Pro2961Ala)
c.8752C>G (p.Pro2918Ala)
c.8743C>G (p.Pro2915Ala)
c.8239C>G (p.Pro2747Ala)
c.8170C>G (p.Pro2724Ala)
c.2956C>G (p.Pro986Ala)
c.8806C>G (p.Pro2936Ala)
c.8686C>G (p.Pro2896Ala)
c.8617C>G (p.Pro2873Ala)
c.7021C>G (p.Pro2341Ala)
c.*1485C>G (n.*1485C>G)
n.9157C>G
6g.51753270G>TCA364426895PKHD1c.8881C>A (p.Pro2961Thr)
c.8752C>A (p.Pro2918Thr)
c.8743C>A (p.Pro2915Thr)
c.8239C>A (p.Pro2747Thr)
c.8170C>A (p.Pro2724Thr)
c.2956C>A (p.Pro986Thr)
c.8806C>A (p.Pro2936Thr)
c.8686C>A (p.Pro2896Thr)
c.8617C>A (p.Pro2873Thr)
c.7021C>A (p.Pro2341Thr)
c.*1485C>A (n.*1485C>A)
n.9157C>A
6g.51753271C>ACA364426898PKHD1c.8880G>T (p.Gln2960His)
c.8751G>T (p.Gln2917His)
c.8742G>T (p.Gln2914His)
c.8238G>T (p.Gln2746His)
c.8169G>T (p.Gln2723His)
c.2955G>T (p.Gln985His)
c.8805G>T (p.Gln2935His)
c.8685G>T (p.Gln2895His)
c.8616G>T (p.Gln2872His)
c.7020G>T (p.Gln2340His)
c.*1484G>T (n.*1484G>T)
n.9156G>T
6g.51753271C>GCA364426900PKHD1c.8880G>C (p.Gln2960His)
c.8751G>C (p.Gln2917His)
c.8742G>C (p.Gln2914His)
c.8238G>C (p.Gln2746His)
c.8169G>C (p.Gln2723His)
c.2955G>C (p.Gln985His)
c.8805G>C (p.Gln2935His)
c.8685G>C (p.Gln2895His)
c.8616G>C (p.Gln2872His)
c.7020G>C (p.Gln2340His)
c.*1484G>C (n.*1484G>C)
n.9156G>C
6g.51753271C>TCA450412635PKHD1c.8880G>A (p.Gln2960=)
c.8751G>A (p.Gln2917=)
c.8742G>A (p.Gln2914=)
c.8238G>A (p.Gln2746=)
c.8169G>A (p.Gln2723=)
c.2955G>A (p.Gln985=)
c.8805G>A (p.Gln2935=)
c.8685G>A (p.Gln2895=)
c.8616G>A (p.Gln2872=)
c.7020G>A (p.Gln2340=)
c.*1484G>A (n.*1484G>A)
n.9156G>A
6g.51753272T>ACA364426902PKHD1c.8879A>T (p.Gln2960Leu)
c.8750A>T (p.Gln2917Leu)
c.8741A>T (p.Gln2914Leu)
c.8237A>T (p.Gln2746Leu)
c.8168A>T (p.Gln2723Leu)
c.2954A>T (p.Gln985Leu)
c.8804A>T (p.Gln2935Leu)
c.8684A>T (p.Gln2895Leu)
c.8615A>T (p.Gln2872Leu)
c.7019A>T (p.Gln2340Leu)
c.*1483A>T (n.*1483A>T)
n.9155A>T
6g.51753272T>CCA364426903PKHD1c.8879A>G (p.Gln2960Arg)
c.8750A>G (p.Gln2917Arg)
c.8741A>G (p.Gln2914Arg)
c.8237A>G (p.Gln2746Arg)
c.8168A>G (p.Gln2723Arg)
c.2954A>G (p.Gln985Arg)
c.8804A>G (p.Gln2935Arg)
c.8684A>G (p.Gln2895Arg)
c.8615A>G (p.Gln2872Arg)
c.7019A>G (p.Gln2340Arg)
c.*1483A>G (n.*1483A>G)
n.9155A>G
6g.51753272T>GCA364426904PKHD1c.8879A>C (p.Gln2960Pro)
c.8750A>C (p.Gln2917Pro)
c.8741A>C (p.Gln2914Pro)
c.8237A>C (p.Gln2746Pro)
c.8168A>C (p.Gln2723Pro)
c.2954A>C (p.Gln985Pro)
c.8804A>C (p.Gln2935Pro)
c.8684A>C (p.Gln2895Pro)
c.8615A>C (p.Gln2872Pro)
c.7019A>C (p.Gln2340Pro)
c.*1483A>C (n.*1483A>C)
n.9155A>C
6g.51753273G>ACA364426907PKHD1c.8878C>T (p.Gln2960Ter)
c.8749C>T (p.Gln2917Ter)
c.8740C>T (p.Gln2914Ter)
c.8236C>T (p.Gln2746Ter)
c.8167C>T (p.Gln2723Ter)
c.2953C>T (p.Gln985Ter)
c.8803C>T (p.Gln2935Ter)
c.8683C>T (p.Gln2895Ter)
c.8614C>T (p.Gln2872Ter)
c.7018C>T (p.Gln2340Ter)
c.*1482C>T (n.*1482C>T)
n.9154C>T
6g.51753273G>CCA364426910PKHD1c.8878C>G (p.Gln2960Glu)
c.8749C>G (p.Gln2917Glu)
c.8740C>G (p.Gln2914Glu)
c.8236C>G (p.Gln2746Glu)
c.8167C>G (p.Gln2723Glu)
c.2953C>G (p.Gln985Glu)
c.8803C>G (p.Gln2935Glu)
c.8683C>G (p.Gln2895Glu)
c.8614C>G (p.Gln2872Glu)
c.7018C>G (p.Gln2340Glu)
c.*1482C>G (n.*1482C>G)
n.9154C>G
6g.51753273G=CA1628510058PKHD1c.8878C= (p.Gln2960=)
c.8749C= (p.Gln2917=)
c.8740C= (p.Gln2914=)
c.8236C= (p.Gln2746=)
c.8167C= (p.Gln2723=)
c.2953C= (p.Gln985=)
c.8803C= (p.Gln2935=)
c.8683C= (p.Gln2895=)
c.8614C= (p.Gln2872=)
c.7018C= (p.Gln2340=)
c.*1482C= (n.*1482C=)
n.9154C=
6g.51753273G>TCA364426905PKHD1c.8878C>A (p.Gln2960Lys)
c.8749C>A (p.Gln2917Lys)
c.8740C>A (p.Gln2914Lys)
c.8236C>A (p.Gln2746Lys)
c.8167C>A (p.Gln2723Lys)
c.2953C>A (p.Gln985Lys)
c.8803C>A (p.Gln2935Lys)
c.8683C>A (p.Gln2895Lys)
c.8614C>A (p.Gln2872Lys)
c.7018C>A (p.Gln2340Lys)
c.*1482C>A (n.*1482C>A)
n.9154C>A
 dbSNP gnomAD v2
6g.51753274A>CCA364426912PKHD1c.8877T>G (p.Ile2959Met)
c.8748T>G (p.Ile2916Met)
c.8739T>G (p.Ile2913Met)
c.8235T>G (p.Ile2745Met)
c.8166T>G (p.Ile2722Met)
c.2952T>G (p.Ile984Met)
c.8802T>G (p.Ile2934Met)
c.8682T>G (p.Ile2894Met)
c.8613T>G (p.Ile2871Met)
c.7017T>G (p.Ile2339Met)
c.*1481T>G (n.*1481T>G)
n.9153T>G
6g.51753274A>GCA450412636PKHD1c.8877T>C (p.Ile2959=)
c.8748T>C (p.Ile2916=)
c.8739T>C (p.Ile2913=)
c.8235T>C (p.Ile2745=)
c.8166T>C (p.Ile2722=)
c.2952T>C (p.Ile984=)
c.8802T>C (p.Ile2934=)
c.8682T>C (p.Ile2894=)
c.8613T>C (p.Ile2871=)
c.7017T>C (p.Ile2339=)
c.*1481T>C (n.*1481T>C)
n.9153T>C
6g.51753274A>TCA450412637PKHD1c.8877T>A (p.Ile2959=)
c.8748T>A (p.Ile2916=)
c.8739T>A (p.Ile2913=)
c.8235T>A (p.Ile2745=)
c.8166T>A (p.Ile2722=)
c.2952T>A (p.Ile984=)
c.8802T>A (p.Ile2934=)
c.8682T>A (p.Ile2894=)
c.8613T>A (p.Ile2871=)
c.7017T>A (p.Ile2339=)
c.*1481T>A (n.*1481T>A)
n.9153T>A
6g.51753275A=CA1628510062PKHD1c.8876T= (p.Ile2959=)
c.8747T= (p.Ile2916=)
c.8738T= (p.Ile2913=)
c.8234T= (p.Ile2745=)
c.8165T= (p.Ile2722=)
c.2951T= (p.Ile984=)
c.8801T= (p.Ile2934=)
c.8681T= (p.Ile2894=)
c.8612T= (p.Ile2871=)
c.7016T= (p.Ile2339=)
c.*1480T= (n.*1480T=)
n.9152T=
6g.51753275A>CCA364426913PKHD1c.8876T>G (p.Ile2959Ser)
c.8747T>G (p.Ile2916Ser)
c.8738T>G (p.Ile2913Ser)
c.8234T>G (p.Ile2745Ser)
c.8165T>G (p.Ile2722Ser)
c.2951T>G (p.Ile984Ser)
c.8801T>G (p.Ile2934Ser)
c.8681T>G (p.Ile2894Ser)
c.8612T>G (p.Ile2871Ser)
c.7016T>G (p.Ile2339Ser)
c.*1480T>G (n.*1480T>G)
n.9152T>G
6g.51753275A>GCA3851502PKHD1c.8876T>C (p.Ile2959Thr)
c.8747T>C (p.Ile2916Thr)
c.8738T>C (p.Ile2913Thr)
c.8234T>C (p.Ile2745Thr)
c.8165T>C (p.Ile2722Thr)
c.2951T>C (p.Ile984Thr)
c.8801T>C (p.Ile2934Thr)
c.8681T>C (p.Ile2894Thr)
c.8612T>C (p.Ile2871Thr)
c.7016T>C (p.Ile2339Thr)
c.*1480T>C (n.*1480T>C)
n.9152T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51753275A>TCA364426914PKHD1c.8876T>A (p.Ile2959Asn)
c.8747T>A (p.Ile2916Asn)
c.8738T>A (p.Ile2913Asn)
c.8234T>A (p.Ile2745Asn)
c.8165T>A (p.Ile2722Asn)
c.2951T>A (p.Ile984Asn)
c.8801T>A (p.Ile2934Asn)
c.8681T>A (p.Ile2894Asn)
c.8612T>A (p.Ile2871Asn)
c.7016T>A (p.Ile2339Asn)
c.*1480T>A (n.*1480T>A)
n.9152T>A
6g.51753276T>ACA364426916PKHD1c.8875A>T (p.Ile2959Phe)
c.8746A>T (p.Ile2916Phe)
c.8737A>T (p.Ile2913Phe)
c.8233A>T (p.Ile2745Phe)
c.8164A>T (p.Ile2722Phe)
c.2950A>T (p.Ile984Phe)
c.8800A>T (p.Ile2934Phe)
c.8680A>T (p.Ile2894Phe)
c.8611A>T (p.Ile2871Phe)
c.7015A>T (p.Ile2339Phe)
c.*1479A>T (n.*1479A>T)
n.9151A>T
6g.51753276T>CCA364426917PKHD1c.8875A>G (p.Ile2959Val)
c.8746A>G (p.Ile2916Val)
c.8737A>G (p.Ile2913Val)
c.8233A>G (p.Ile2745Val)
c.8164A>G (p.Ile2722Val)
c.2950A>G (p.Ile984Val)
c.8800A>G (p.Ile2934Val)
c.8680A>G (p.Ile2894Val)
c.8611A>G (p.Ile2871Val)
c.7015A>G (p.Ile2339Val)
c.*1479A>G (n.*1479A>G)
n.9151A>G
6g.51753276T>GCA364426918PKHD1c.8875A>C (p.Ile2959Leu)
c.8746A>C (p.Ile2916Leu)
c.8737A>C (p.Ile2913Leu)
c.8233A>C (p.Ile2745Leu)
c.8164A>C (p.Ile2722Leu)
c.2950A>C (p.Ile984Leu)
c.8800A>C (p.Ile2934Leu)
c.8680A>C (p.Ile2894Leu)
c.8611A>C (p.Ile2871Leu)
c.7015A>C (p.Ile2339Leu)
c.*1479A>C (n.*1479A>C)
n.9151A>C
6g.51753277T>ACA364426921PKHD1c.8874A>T (p.Gln2958His)
c.8745A>T (p.Gln2915His)
c.8736A>T (p.Gln2912His)
c.8232A>T (p.Gln2744His)
c.8163A>T (p.Gln2721His)
c.2949A>T (p.Gln983His)
c.8799A>T (p.Gln2933His)
c.8679A>T (p.Gln2893His)
c.8610A>T (p.Gln2870His)
c.7014A>T (p.Gln2338His)
c.*1478A>T (n.*1478A>T)
n.9150A>T
6g.51753277T>CCA450412639PKHD1c.8874A>G (p.Gln2958=)
c.8745A>G (p.Gln2915=)
c.8736A>G (p.Gln2912=)
c.8232A>G (p.Gln2744=)
c.8163A>G (p.Gln2721=)
c.2949A>G (p.Gln983=)
c.8799A>G (p.Gln2933=)
c.8679A>G (p.Gln2893=)
c.8610A>G (p.Gln2870=)
c.7014A>G (p.Gln2338=)
c.*1478A>G (n.*1478A>G)
n.9150A>G
6g.51753277T>GCA364426922PKHD1c.8874A>C (p.Gln2958His)
c.8745A>C (p.Gln2915His)
c.8736A>C (p.Gln2912His)
c.8232A>C (p.Gln2744His)
c.8163A>C (p.Gln2721His)
c.2949A>C (p.Gln983His)
c.8799A>C (p.Gln2933His)
c.8679A>C (p.Gln2893His)
c.8610A>C (p.Gln2870His)
c.7014A>C (p.Gln2338His)
c.*1478A>C (n.*1478A>C)
n.9150A>C
6g.51753278_51753282delCA2739273096PKHD1c.8870_8874del (p.Ile2957AsnfsTer4)
c.8741_8745del (p.Ile2914AsnfsTer4)
c.8732_8736del (p.Ile2911AsnfsTer4)
c.8228_8232del (p.Ile2743AsnfsTer4)
c.8159_8163del (p.Ile2720AsnfsTer4)
c.2945_2949del (p.Ile982AsnfsTer4)
c.8795_8799del (p.Ile2932AsnfsTer4)
c.8675_8679del (p.Ile2892AsnfsTer4)
c.8606_8610del (p.Ile2869AsnfsTer4)
c.7010_7014del (p.Ile2337AsnfsTer4)
c.*1474_*1478del (n.*1474_*1478del)
n.9146_9150del
 ClinVar
6g.51753278T>ACA364426923PKHD1c.8873A>T (p.Gln2958Leu)
c.8744A>T (p.Gln2915Leu)
c.8735A>T (p.Gln2912Leu)
c.8231A>T (p.Gln2744Leu)
c.8162A>T (p.Gln2721Leu)
c.2948A>T (p.Gln983Leu)
c.8798A>T (p.Gln2933Leu)
c.8678A>T (p.Gln2893Leu)
c.8609A>T (p.Gln2870Leu)
c.7013A>T (p.Gln2338Leu)
c.*1477A>T (n.*1477A>T)
n.9149A>T
6g.51753278T>CCA364426924PKHD1c.8873A>G (p.Gln2958Arg)
c.8744A>G (p.Gln2915Arg)
c.8735A>G (p.Gln2912Arg)
c.8231A>G (p.Gln2744Arg)
c.8162A>G (p.Gln2721Arg)
c.2948A>G (p.Gln983Arg)
c.8798A>G (p.Gln2933Arg)
c.8678A>G (p.Gln2893Arg)
c.8609A>G (p.Gln2870Arg)
c.7013A>G (p.Gln2338Arg)
c.*1477A>G (n.*1477A>G)
n.9149A>G
6g.51753278T>GCA364426926PKHD1c.8873A>C (p.Gln2958Pro)
c.8744A>C (p.Gln2915Pro)
c.8735A>C (p.Gln2912Pro)
c.8231A>C (p.Gln2744Pro)
c.8162A>C (p.Gln2721Pro)
c.2948A>C (p.Gln983Pro)
c.8798A>C (p.Gln2933Pro)
c.8678A>C (p.Gln2893Pro)
c.8609A>C (p.Gln2870Pro)
c.7013A>C (p.Gln2338Pro)
c.*1477A>C (n.*1477A>C)
n.9149A>C
6g.51753279G>ACA364426927PKHD1c.8872C>T (p.Gln2958Ter)
c.8743C>T (p.Gln2915Ter)
c.8734C>T (p.Gln2912Ter)
c.8230C>T (p.Gln2744Ter)
c.8161C>T (p.Gln2721Ter)
c.2947C>T (p.Gln983Ter)
c.8797C>T (p.Gln2933Ter)
c.8677C>T (p.Gln2893Ter)
c.8608C>T (p.Gln2870Ter)
c.7012C>T (p.Gln2338Ter)
c.*1476C>T (n.*1476C>T)
n.9148C>T
 dbSNP gnomAD v4
6g.51753279G>CCA364426928PKHD1c.8872C>G (p.Gln2958Glu)
c.8743C>G (p.Gln2915Glu)
c.8734C>G (p.Gln2912Glu)
c.8230C>G (p.Gln2744Glu)
c.8161C>G (p.Gln2721Glu)
c.2947C>G (p.Gln983Glu)
c.8797C>G (p.Gln2933Glu)
c.8677C>G (p.Gln2893Glu)
c.8608C>G (p.Gln2870Glu)
c.7012C>G (p.Gln2338Glu)
c.*1476C>G (n.*1476C>G)
n.9148C>G
 gnomAD v4
6g.51753279G=CA1628510068PKHD1c.8872C= (p.Gln2958=)
c.8743C= (p.Gln2915=)
c.8734C= (p.Gln2912=)
c.8230C= (p.Gln2744=)
c.8161C= (p.Gln2721=)
c.2947C= (p.Gln983=)
c.8797C= (p.Gln2933=)
c.8677C= (p.Gln2893=)
c.8608C= (p.Gln2870=)
c.7012C= (p.Gln2338=)
c.*1476C= (n.*1476C=)
n.9148C=
6g.51753279G>TCA364426931PKHD1c.8872C>A (p.Gln2958Lys)
c.8743C>A (p.Gln2915Lys)
c.8734C>A (p.Gln2912Lys)
c.8230C>A (p.Gln2744Lys)
c.8161C>A (p.Gln2721Lys)
c.2947C>A (p.Gln983Lys)
c.8797C>A (p.Gln2933Lys)
c.8677C>A (p.Gln2893Lys)
c.8608C>A (p.Gln2870Lys)
c.7012C>A (p.Gln2338Lys)
c.*1476C>A (n.*1476C>A)
n.9148C>A
6g.51753280T>ACA450412641PKHD1c.8871A>T (p.Ile2957=)
c.8742A>T (p.Ile2914=)
c.8733A>T (p.Ile2911=)
c.8229A>T (p.Ile2743=)
c.8160A>T (p.Ile2720=)
c.2946A>T (p.Ile982=)
c.8796A>T (p.Ile2932=)
c.8676A>T (p.Ile2892=)
c.8607A>T (p.Ile2869=)
c.7011A>T (p.Ile2337=)
c.*1475A>T (n.*1475A>T)
n.9147A>T
6g.51753280T>CCA364426932PKHD1c.8871A>G (p.Ile2957Met)
c.8742A>G (p.Ile2914Met)
c.8733A>G (p.Ile2911Met)
c.8229A>G (p.Ile2743Met)
c.8160A>G (p.Ile2720Met)
c.2946A>G (p.Ile982Met)
c.8796A>G (p.Ile2932Met)
c.8676A>G (p.Ile2892Met)
c.8607A>G (p.Ile2869Met)
c.7011A>G (p.Ile2337Met)
c.*1475A>G (n.*1475A>G)
n.9147A>G
 ClinVar dbSNP gnomAD v4
6g.51753280T>GCA450412642PKHD1c.8871A>C (p.Ile2957=)
c.8742A>C (p.Ile2914=)
c.8733A>C (p.Ile2911=)
c.8229A>C (p.Ile2743=)
c.8160A>C (p.Ile2720=)
c.2946A>C (p.Ile982=)
c.8796A>C (p.Ile2932=)
c.8676A>C (p.Ile2892=)
c.8607A>C (p.Ile2869=)
c.7011A>C (p.Ile2337=)
c.*1475A>C (n.*1475A>C)
n.9147A>C
6g.51753280T=CA1628510072PKHD1c.8871A= (p.Ile2957=)
c.8742A= (p.Ile2914=)
c.8733A= (p.Ile2911=)
c.8229A= (p.Ile2743=)
c.8160A= (p.Ile2720=)
c.2946A= (p.Ile982=)
c.8796A= (p.Ile2932=)
c.8676A= (p.Ile2892=)
c.8607A= (p.Ile2869=)
c.7011A= (p.Ile2337=)
c.*1475A= (n.*1475A=)
n.9147A=
6g.51753280_51753281insGTCAGGCTGACA1088962861PKHD1c.8870_8871insTCAGCCTGAC (p.Ile2959ProfsTer7)
c.8741_8742insTCAGCCTGAC (p.Ile2916ProfsTer7)
c.8732_8733insTCAGCCTGAC (p.Ile2913ProfsTer7)
c.8228_8229insTCAGCCTGAC (p.Ile2745ProfsTer7)
c.8159_8160insTCAGCCTGAC (p.Ile2722ProfsTer7)
c.2945_2946insTCAGCCTGAC (p.Ile984ProfsTer7)
c.8795_8796insTCAGCCTGAC (p.Ile2934ProfsTer7)
c.8675_8676insTCAGCCTGAC (p.Ile2894ProfsTer7)
c.8606_8607insTCAGCCTGAC (p.Ile2871ProfsTer7)
c.7010_7011insTCAGCCTGAC (p.Ile2339ProfsTer7)
c.*1474_*1475insTCAGCCTGAC (n.*1474_*1475insTCAGCCTGAC)
n.9146_9147insTCAGCCTGAC
 dbSNP gnomAD v3 gnomAD v4
6g.51753281A=CA1628510078PKHD1c.8870T= (p.Ile2957=)
c.8741T= (p.Ile2914=)
c.8732T= (p.Ile2911=)
c.8228T= (p.Ile2743=)
c.8159T= (p.Ile2720=)
c.2945T= (p.Ile982=)
c.8795T= (p.Ile2932=)
c.8675T= (p.Ile2892=)
c.8606T= (p.Ile2869=)
c.7010T= (p.Ile2337=)
c.*1474T= (n.*1474T=)
n.9146T=
6g.51753281A>CCA364426935PKHD1c.8870T>G (p.Ile2957Arg)
c.8741T>G (p.Ile2914Arg)
c.8732T>G (p.Ile2911Arg)
c.8228T>G (p.Ile2743Arg)
c.8159T>G (p.Ile2720Arg)
c.2945T>G (p.Ile982Arg)
c.8795T>G (p.Ile2932Arg)
c.8675T>G (p.Ile2892Arg)
c.8606T>G (p.Ile2869Arg)
c.7010T>G (p.Ile2337Arg)
c.*1474T>G (n.*1474T>G)
n.9146T>G
6g.51753281A>GCA3851503PKHD1c.8870T>C (p.Ile2957Thr)
c.8741T>C (p.Ile2914Thr)
c.8732T>C (p.Ile2911Thr)
c.8228T>C (p.Ile2743Thr)
c.8159T>C (p.Ile2720Thr)
c.2945T>C (p.Ile982Thr)
c.8795T>C (p.Ile2932Thr)
c.8675T>C (p.Ile2892Thr)
c.8606T>C (p.Ile2869Thr)
c.7010T>C (p.Ile2337Thr)
c.*1474T>C (n.*1474T>C)
n.9146T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51753281A>TCA364426933PKHD1c.8870T>A (p.Ile2957Lys)
c.8741T>A (p.Ile2914Lys)
c.8732T>A (p.Ile2911Lys)
c.8228T>A (p.Ile2743Lys)
c.8159T>A (p.Ile2720Lys)
c.2945T>A (p.Ile982Lys)
c.8795T>A (p.Ile2932Lys)
c.8675T>A (p.Ile2892Lys)
c.8606T>A (p.Ile2869Lys)
c.7010T>A (p.Ile2337Lys)
c.*1474T>A (n.*1474T>A)
n.9146T>A
6g.51753282T>ACA364426937PKHD1c.8869A>T (p.Ile2957Leu)
c.8740A>T (p.Ile2914Leu)
c.8731A>T (p.Ile2911Leu)
c.8227A>T (p.Ile2743Leu)
c.8158A>T (p.Ile2720Leu)
c.2944A>T (p.Ile982Leu)
c.8794A>T (p.Ile2932Leu)
c.8674A>T (p.Ile2892Leu)
c.8605A>T (p.Ile2869Leu)
c.7009A>T (p.Ile2337Leu)
c.*1473A>T (n.*1473A>T)
n.9145A>T
 dbSNP gnomAD v3 gnomAD v4
6g.51753282T>CCA364426940PKHD1c.8869A>G (p.Ile2957Val)
c.8740A>G (p.Ile2914Val)
c.8731A>G (p.Ile2911Val)
c.8227A>G (p.Ile2743Val)
c.8158A>G (p.Ile2720Val)
c.2944A>G (p.Ile982Val)
c.8794A>G (p.Ile2932Val)
c.8674A>G (p.Ile2892Val)
c.8605A>G (p.Ile2869Val)
c.7009A>G (p.Ile2337Val)
c.*1473A>G (n.*1473A>G)
n.9145A>G
 gnomAD v4
6g.51753282T>GCA364426942PKHD1c.8869A>C (p.Ile2957Leu)
c.8740A>C (p.Ile2914Leu)
c.8731A>C (p.Ile2911Leu)
c.8227A>C (p.Ile2743Leu)
c.8158A>C (p.Ile2720Leu)
c.2944A>C (p.Ile982Leu)
c.8794A>C (p.Ile2932Leu)
c.8674A>C (p.Ile2892Leu)
c.8605A>C (p.Ile2869Leu)
c.7009A>C (p.Ile2337Leu)
c.*1473A>C (n.*1473A>C)
n.9145A>C
6g.51753282T=CA1628510081PKHD1c.8869A= (p.Ile2957=)
c.8740A= (p.Ile2914=)
c.8731A= (p.Ile2911=)
c.8227A= (p.Ile2743=)
c.8158A= (p.Ile2720=)
c.2944A= (p.Ile982=)
c.8794A= (p.Ile2932=)
c.8674A= (p.Ile2892=)
c.8605A= (p.Ile2869=)
c.7009A= (p.Ile2337=)
c.*1473A= (n.*1473A=)
n.9145A=
6g.51753282_51753283insTCAGGCTGCA1088962877PKHD1c.8868_8869insCAGCCTGA (p.Ile2957GlnfsTer?)
c.8739_8740insCAGCCTGA (p.Ile2914GlnfsTer?)
c.8730_8731insCAGCCTGA (p.Ile2911GlnfsTer?)
c.8226_8227insCAGCCTGA (p.Ile2743GlnfsTer?)
c.8157_8158insCAGCCTGA (p.Ile2720GlnfsTer?)
c.2943_2944insCAGCCTGA (p.Ile982GlnfsTer?)
c.8793_8794insCAGCCTGA (p.Ile2932GlnfsTer?)
c.8673_8674insCAGCCTGA (p.Ile2892GlnfsTer?)
c.8604_8605insCAGCCTGA (p.Ile2869GlnfsTer?)
c.7008_7009insCAGCCTGA (p.Ile2337GlnfsTer?)
c.*1472_*1473insCAGCCTGA (n.*1472_*1473insCAGCCTGA)
n.9144_9145insCAGCCTGA
 dbSNP gnomAD v3 gnomAD v4
6g.51753282_51753283insCAGGCTGAATTCAGGCTGCA825702588PKHD1c.8868_8869insCAGCCTGAATTCAGCCTG (p.Asn2956_Ile2957insGlnProGluPheSerLeu)
c.8739_8740insCAGCCTGAATTCAGCCTG (p.Asn2913_Ile2914insGlnProGluPheSerLeu)
c.8730_8731insCAGCCTGAATTCAGCCTG (p.Asn2910_Ile2911insGlnProGluPheSerLeu)
c.8226_8227insCAGCCTGAATTCAGCCTG (p.Asn2742_Ile2743insGlnProGluPheSerLeu)
c.8157_8158insCAGCCTGAATTCAGCCTG (p.Asn2719_Ile2720insGlnProGluPheSerLeu)
c.2943_2944insCAGCCTGAATTCAGCCTG (p.Asn981_Ile982insGlnProGluPheSerLeu)
c.8793_8794insCAGCCTGAATTCAGCCTG (p.Asn2931_Ile2932insGlnProGluPheSerLeu)
c.8673_8674insCAGCCTGAATTCAGCCTG (p.Asn2891_Ile2892insGlnProGluPheSerLeu)
c.8604_8605insCAGCCTGAATTCAGCCTG (p.Asn2868_Ile2869insGlnProGluPheSerLeu)
c.7008_7009insCAGCCTGAATTCAGCCTG (p.Asn2336_Ile2337insGlnProGluPheSerLeu)
c.*1472_*1473insCAGCCTGAATTCAGCCTG (n.*1472_*1473insCAGCCTGAATTCAGCCTG)
n.9144_9145insCAGCCTGAATTCAGCCTG
 dbSNP
6g.51753283A>CCA364426945PKHD1c.8868T>G (p.Asn2956Lys)
c.8739T>G (p.Asn2913Lys)
c.8730T>G (p.Asn2910Lys)
c.8226T>G (p.Asn2742Lys)
c.8157T>G (p.Asn2719Lys)
c.2943T>G (p.Asn981Lys)
c.8793T>G (p.Asn2931Lys)
c.8673T>G (p.Asn2891Lys)
c.8604T>G (p.Asn2868Lys)
c.7008T>G (p.Asn2336Lys)
c.*1472T>G (n.*1472T>G)
n.9144T>G
6g.51753283A>GCA450412644PKHD1c.8868T>C (p.Asn2956=)
c.8739T>C (p.Asn2913=)
c.8730T>C (p.Asn2910=)
c.8226T>C (p.Asn2742=)
c.8157T>C (p.Asn2719=)
c.2943T>C (p.Asn981=)
c.8793T>C (p.Asn2931=)
c.8673T>C (p.Asn2891=)
c.8604T>C (p.Asn2868=)
c.7008T>C (p.Asn2336=)
c.*1472T>C (n.*1472T>C)
n.9144T>C
 ClinVar
6g.51753283A>TCA364426947PKHD1c.8868T>A (p.Asn2956Lys)
c.8739T>A (p.Asn2913Lys)
c.8730T>A (p.Asn2910Lys)
c.8226T>A (p.Asn2742Lys)
c.8157T>A (p.Asn2719Lys)
c.2943T>A (p.Asn981Lys)
c.8793T>A (p.Asn2931Lys)
c.8673T>A (p.Asn2891Lys)
c.8604T>A (p.Asn2868Lys)
c.7008T>A (p.Asn2336Lys)
c.*1472T>A (n.*1472T>A)
n.9144T>A
6g.51753284T>ACA364426950PKHD1c.8867A>T (p.Asn2956Ile)
c.8738A>T (p.Asn2913Ile)
c.8729A>T (p.Asn2910Ile)
c.8225A>T (p.Asn2742Ile)
c.8156A>T (p.Asn2719Ile)
c.2942A>T (p.Asn981Ile)
c.8792A>T (p.Asn2931Ile)
c.8672A>T (p.Asn2891Ile)
c.8603A>T (p.Asn2868Ile)
c.7007A>T (p.Asn2336Ile)
c.*1471A>T (n.*1471A>T)
n.9143A>T
 dbSNP gnomAD v3 gnomAD v4
6g.51753284T>CCA364426951PKHD1c.8867A>G (p.Asn2956Ser)
c.8738A>G (p.Asn2913Ser)
c.8729A>G (p.Asn2910Ser)
c.8225A>G (p.Asn2742Ser)
c.8156A>G (p.Asn2719Ser)
c.2942A>G (p.Asn981Ser)
c.8792A>G (p.Asn2931Ser)
c.8672A>G (p.Asn2891Ser)
c.8603A>G (p.Asn2868Ser)
c.7007A>G (p.Asn2336Ser)
c.*1471A>G (n.*1471A>G)
n.9143A>G
 gnomAD v4
6g.51753284T>GCA364426954PKHD1c.8867A>C (p.Asn2956Thr)
c.8738A>C (p.Asn2913Thr)
c.8729A>C (p.Asn2910Thr)
c.8225A>C (p.Asn2742Thr)
c.8156A>C (p.Asn2719Thr)
c.2942A>C (p.Asn981Thr)
c.8792A>C (p.Asn2931Thr)
c.8672A>C (p.Asn2891Thr)
c.8603A>C (p.Asn2868Thr)
c.7007A>C (p.Asn2336Thr)
c.*1471A>C (n.*1471A>C)
n.9143A>C
6g.51753284T=CA1628510090PKHD1c.8867A= (p.Asn2956=)
c.8738A= (p.Asn2913=)
c.8729A= (p.Asn2910=)
c.8225A= (p.Asn2742=)
c.8156A= (p.Asn2719=)
c.2942A= (p.Asn981=)
c.8792A= (p.Asn2931=)
c.8672A= (p.Asn2891=)
c.8603A= (p.Asn2868=)
c.7007A= (p.Asn2336=)
c.*1471A= (n.*1471A=)
n.9143A=
6g.51753285T>ACA364426957PKHD1c.8866A>T (p.Asn2956Tyr)
c.8737A>T (p.Asn2913Tyr)
c.8728A>T (p.Asn2910Tyr)
c.8224A>T (p.Asn2742Tyr)
c.8155A>T (p.Asn2719Tyr)
c.2941A>T (p.Asn981Tyr)
c.8791A>T (p.Asn2931Tyr)
c.8671A>T (p.Asn2891Tyr)
c.8602A>T (p.Asn2868Tyr)
c.7006A>T (p.Asn2336Tyr)
c.*1470A>T (n.*1470A>T)
n.9142A>T
6g.51753285T>CCA364426959PKHD1c.8866A>G (p.Asn2956Asp)
c.8737A>G (p.Asn2913Asp)
c.8728A>G (p.Asn2910Asp)
c.8224A>G (p.Asn2742Asp)
c.8155A>G (p.Asn2719Asp)
c.2941A>G (p.Asn981Asp)
c.8791A>G (p.Asn2931Asp)
c.8671A>G (p.Asn2891Asp)
c.8602A>G (p.Asn2868Asp)
c.7006A>G (p.Asn2336Asp)
c.*1470A>G (n.*1470A>G)
n.9142A>G
6g.51753285T>GCA364426965PKHD1c.8866A>C (p.Asn2956His)
c.8737A>C (p.Asn2913His)
c.8728A>C (p.Asn2910His)
c.8224A>C (p.Asn2742His)
c.8155A>C (p.Asn2719His)
c.2941A>C (p.Asn981His)
c.8791A>C (p.Asn2931His)
c.8671A>C (p.Asn2891His)
c.8602A>C (p.Asn2868His)
c.7006A>C (p.Asn2336His)
c.*1470A>C (n.*1470A>C)
n.9142A>C
6g.51753286T>ACA450412648PKHD1c.8865A>T (p.Arg2955=)
c.8736A>T (p.Arg2912=)
c.8727A>T (p.Arg2909=)
c.8223A>T (p.Arg2741=)
c.8154A>T (p.Arg2718=)
c.2940A>T (p.Arg980=)
c.8790A>T (p.Arg2930=)
c.8670A>T (p.Arg2890=)
c.8601A>T (p.Arg2867=)
c.7005A>T (p.Arg2335=)
c.*1469A>T (n.*1469A>T)
n.9141A>T
6g.51753286T>CCA450412649PKHD1c.8865A>G (p.Arg2955=)
c.8736A>G (p.Arg2912=)
c.8727A>G (p.Arg2909=)
c.8223A>G (p.Arg2741=)
c.8154A>G (p.Arg2718=)
c.2940A>G (p.Arg980=)
c.8790A>G (p.Arg2930=)
c.8670A>G (p.Arg2890=)
c.8601A>G (p.Arg2867=)
c.7005A>G (p.Arg2335=)
c.*1469A>G (n.*1469A>G)
n.9141A>G
6g.51753286T>GCA450412650PKHD1c.8865A>C (p.Arg2955=)
c.8736A>C (p.Arg2912=)
c.8727A>C (p.Arg2909=)
c.8223A>C (p.Arg2741=)
c.8154A>C (p.Arg2718=)
c.2940A>C (p.Arg980=)
c.8790A>C (p.Arg2930=)
c.8670A>C (p.Arg2890=)
c.8601A>C (p.Arg2867=)
c.7005A>C (p.Arg2335=)
c.*1469A>C (n.*1469A>C)
n.9141A>C
6g.51753287C>ACA364426973PKHD1c.8864G>T (p.Arg2955Leu)
c.8735G>T (p.Arg2912Leu)
c.8726G>T (p.Arg2909Leu)
c.8222G>T (p.Arg2741Leu)
c.8153G>T (p.Arg2718Leu)
c.2939G>T (p.Arg980Leu)
c.8789G>T (p.Arg2930Leu)
c.8669G>T (p.Arg2890Leu)
c.8600G>T (p.Arg2867Leu)
c.7004G>T (p.Arg2335Leu)
c.*1468G>T (n.*1468G>T)
n.9140G>T
 ClinVar dbSNP
6g.51753287C=CA1628510095PKHD1c.8864G= (p.Arg2955=)
c.8735G= (p.Arg2912=)
c.8726G= (p.Arg2909=)
c.8222G= (p.Arg2741=)
c.8153G= (p.Arg2718=)
c.2939G= (p.Arg980=)
c.8789G= (p.Arg2930=)
c.8669G= (p.Arg2890=)
c.8600G= (p.Arg2867=)
c.7004G= (p.Arg2335=)
c.*1468G= (n.*1468G=)
n.9140G=
6g.51753287C>GCA364426970PKHD1c.8864G>C (p.Arg2955Pro)
c.8735G>C (p.Arg2912Pro)
c.8726G>C (p.Arg2909Pro)
c.8222G>C (p.Arg2741Pro)
c.8153G>C (p.Arg2718Pro)
c.2939G>C (p.Arg980Pro)
c.8789G>C (p.Arg2930Pro)
c.8669G>C (p.Arg2890Pro)
c.8600G>C (p.Arg2867Pro)
c.7004G>C (p.Arg2335Pro)
c.*1468G>C (n.*1468G>C)
n.9140G>C
6g.51753287C>TCA364426968PKHD1c.8864G>A (p.Arg2955Gln)
c.8735G>A (p.Arg2912Gln)
c.8726G>A (p.Arg2909Gln)
c.8222G>A (p.Arg2741Gln)
c.8153G>A (p.Arg2718Gln)
c.2939G>A (p.Arg980Gln)
c.8789G>A (p.Arg2930Gln)
c.8669G>A (p.Arg2890Gln)
c.8600G>A (p.Arg2867Gln)
c.7004G>A (p.Arg2335Gln)
c.*1468G>A (n.*1468G>A)
n.9140G>A
 ClinVar dbSNP gnomAD v4
6g.51753288G>ACA364426978PKHD1c.8863C>T (p.Arg2955Ter)
c.8734C>T (p.Arg2912Ter)
c.8725C>T (p.Arg2909Ter)
c.8221C>T (p.Arg2741Ter)
c.8152C>T (p.Arg2718Ter)
c.2938C>T (p.Arg980Ter)
c.8788C>T (p.Arg2930Ter)
c.8668C>T (p.Arg2890Ter)
c.8599C>T (p.Arg2867Ter)
c.7003C>T (p.Arg2335Ter)
c.*1467C>T (n.*1467C>T)
n.9139C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51753288G>CCA364426976PKHD1c.8863C>G (p.Arg2955Gly)
c.8734C>G (p.Arg2912Gly)
c.8725C>G (p.Arg2909Gly)
c.8221C>G (p.Arg2741Gly)
c.8152C>G (p.Arg2718Gly)
c.2938C>G (p.Arg980Gly)
c.8788C>G (p.Arg2930Gly)
c.8668C>G (p.Arg2890Gly)
c.8599C>G (p.Arg2867Gly)
c.7003C>G (p.Arg2335Gly)
c.*1467C>G (n.*1467C>G)
n.9139C>G
6g.51753288G=CA1628510099PKHD1c.8863C= (p.Arg2955=)
c.8734C= (p.Arg2912=)
c.8725C= (p.Arg2909=)
c.8221C= (p.Arg2741=)
c.8152C= (p.Arg2718=)
c.2938C= (p.Arg980=)
c.8788C= (p.Arg2930=)
c.8668C= (p.Arg2890=)
c.8599C= (p.Arg2867=)
c.7003C= (p.Arg2335=)
c.*1467C= (n.*1467C=)
n.9139C=
6g.51753288G>TCA450412652PKHD1c.8863C>A (p.Arg2955=)
c.8734C>A (p.Arg2912=)
c.8725C>A (p.Arg2909=)
c.8221C>A (p.Arg2741=)
c.8152C>A (p.Arg2718=)
c.2938C>A (p.Arg980=)
c.8788C>A (p.Arg2930=)
c.8668C>A (p.Arg2890=)
c.8599C>A (p.Arg2867=)
c.7003C>A (p.Arg2335=)
c.*1467C>A (n.*1467C>A)
n.9139C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51753289G>ACA450412653PKHD1c.8862C>T (p.Thr2954=)
c.8733C>T (p.Thr2911=)
c.8724C>T (p.Thr2908=)
c.8220C>T (p.Thr2740=)
c.8151C>T (p.Thr2717=)
c.2937C>T (p.Thr979=)
c.8787C>T (p.Thr2929=)
c.8667C>T (p.Thr2889=)
c.8598C>T (p.Thr2866=)
c.7002C>T (p.Thr2334=)
c.*1466C>T (n.*1466C>T)
n.9138C>T
 gnomAD v4
6g.51753289G>CCA450412655PKHD1c.8862C>G (p.Thr2954=)
c.8733C>G (p.Thr2911=)
c.8724C>G (p.Thr2908=)
c.8220C>G (p.Thr2740=)
c.8151C>G (p.Thr2717=)
c.2937C>G (p.Thr979=)
c.8787C>G (p.Thr2929=)
c.8667C>G (p.Thr2889=)
c.8598C>G (p.Thr2866=)
c.7002C>G (p.Thr2334=)
c.*1466C>G (n.*1466C>G)
n.9138C>G
6g.51753289G>TCA450412656PKHD1c.8862C>A (p.Thr2954=)
c.8733C>A (p.Thr2911=)
c.8724C>A (p.Thr2908=)
c.8220C>A (p.Thr2740=)
c.8151C>A (p.Thr2717=)
c.2937C>A (p.Thr979=)
c.8787C>A (p.Thr2929=)
c.8667C>A (p.Thr2889=)
c.8598C>A (p.Thr2866=)
c.7002C>A (p.Thr2334=)
c.*1466C>A (n.*1466C>A)
n.9138C>A
6g.51753290G>ACA364426979PKHD1c.8861C>T (p.Thr2954Ile)
c.8732C>T (p.Thr2911Ile)
c.8723C>T (p.Thr2908Ile)
c.8219C>T (p.Thr2740Ile)
c.8150C>T (p.Thr2717Ile)
c.2936C>T (p.Thr979Ile)
c.8786C>T (p.Thr2929Ile)
c.8666C>T (p.Thr2889Ile)
c.8597C>T (p.Thr2866Ile)
c.7001C>T (p.Thr2334Ile)
c.*1465C>T (n.*1465C>T)
n.9137C>T
 ClinVar
6g.51753290G>CCA364426980PKHD1c.8861C>G (p.Thr2954Ser)
c.8732C>G (p.Thr2911Ser)
c.8723C>G (p.Thr2908Ser)
c.8219C>G (p.Thr2740Ser)
c.8150C>G (p.Thr2717Ser)
c.2936C>G (p.Thr979Ser)
c.8786C>G (p.Thr2929Ser)
c.8666C>G (p.Thr2889Ser)
c.8597C>G (p.Thr2866Ser)
c.7001C>G (p.Thr2334Ser)
c.*1465C>G (n.*1465C>G)
n.9137C>G
6g.51753290G>TCA364426981PKHD1c.8861C>A (p.Thr2954Asn)
c.8732C>A (p.Thr2911Asn)
c.8723C>A (p.Thr2908Asn)
c.8219C>A (p.Thr2740Asn)
c.8150C>A (p.Thr2717Asn)
c.2936C>A (p.Thr979Asn)
c.8786C>A (p.Thr2929Asn)
c.8666C>A (p.Thr2889Asn)
c.8597C>A (p.Thr2866Asn)
c.7001C>A (p.Thr2334Asn)
c.*1465C>A (n.*1465C>A)
n.9137C>A
6g.51753291T>ACA364426983PKHD1c.8860A>T (p.Thr2954Ser)
c.8731A>T (p.Thr2911Ser)
c.8722A>T (p.Thr2908Ser)
c.8218A>T (p.Thr2740Ser)
c.8149A>T (p.Thr2717Ser)
c.2935A>T (p.Thr979Ser)
c.8785A>T (p.Thr2929Ser)
c.8665A>T (p.Thr2889Ser)
c.8596A>T (p.Thr2866Ser)
c.7000A>T (p.Thr2334Ser)
c.*1464A>T (n.*1464A>T)
n.9136A>T
6g.51753291T>CCA364426986PKHD1c.8860A>G (p.Thr2954Ala)
c.8731A>G (p.Thr2911Ala)
c.8722A>G (p.Thr2908Ala)
c.8218A>G (p.Thr2740Ala)
c.8149A>G (p.Thr2717Ala)
c.2935A>G (p.Thr979Ala)
c.8785A>G (p.Thr2929Ala)
c.8665A>G (p.Thr2889Ala)
c.8596A>G (p.Thr2866Ala)
c.7000A>G (p.Thr2334Ala)
c.*1464A>G (n.*1464A>G)
n.9136A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51753291T>GCA364426987PKHD1c.8860A>C (p.Thr2954Pro)
c.8731A>C (p.Thr2911Pro)
c.8722A>C (p.Thr2908Pro)
c.8218A>C (p.Thr2740Pro)
c.8149A>C (p.Thr2717Pro)
c.2935A>C (p.Thr979Pro)
c.8785A>C (p.Thr2929Pro)
c.8665A>C (p.Thr2889Pro)
c.8596A>C (p.Thr2866Pro)
c.7000A>C (p.Thr2334Pro)
c.*1464A>C (n.*1464A>C)
n.9136A>C
6g.51753291T=CA1628510105PKHD1c.8860A= (p.Thr2954=)
c.8731A= (p.Thr2911=)
c.8722A= (p.Thr2908=)
c.8218A= (p.Thr2740=)
c.8149A= (p.Thr2717=)
c.2935A= (p.Thr979=)
c.8785A= (p.Thr2929=)
c.8665A= (p.Thr2889=)
c.8596A= (p.Thr2866=)
c.7000A= (p.Thr2334=)
c.*1464A= (n.*1464A=)
n.9136A=
6g.51753292C>ACA364426990PKHD1c.8859G>T (p.Leu2953Phe)
c.8730G>T (p.Leu2910Phe)
c.8721G>T (p.Leu2907Phe)
c.8217G>T (p.Leu2739Phe)
c.8148G>T (p.Leu2716Phe)
c.2934G>T (p.Leu978Phe)
c.8784G>T (p.Leu2928Phe)
c.8664G>T (p.Leu2888Phe)
c.8595G>T (p.Leu2865Phe)
c.6999G>T (p.Leu2333Phe)
c.*1463G>T (n.*1463G>T)
n.9135G>T
6g.51753292C>GCA364426992PKHD1c.8859G>C (p.Leu2953Phe)
c.8730G>C (p.Leu2910Phe)
c.8721G>C (p.Leu2907Phe)
c.8217G>C (p.Leu2739Phe)
c.8148G>C (p.Leu2716Phe)
c.2934G>C (p.Leu978Phe)
c.8784G>C (p.Leu2928Phe)
c.8664G>C (p.Leu2888Phe)
c.8595G>C (p.Leu2865Phe)
c.6999G>C (p.Leu2333Phe)
c.*1463G>C (n.*1463G>C)
n.9135G>C
 gnomAD v4
6g.51753292C>TCA450412659PKHD1c.8859G>A (p.Leu2953=)
c.8730G>A (p.Leu2910=)
c.8721G>A (p.Leu2907=)
c.8217G>A (p.Leu2739=)
c.8148G>A (p.Leu2716=)
c.2934G>A (p.Leu978=)
c.8784G>A (p.Leu2928=)
c.8664G>A (p.Leu2888=)
c.8595G>A (p.Leu2865=)
c.6999G>A (p.Leu2333=)
c.*1463G>A (n.*1463G>A)
n.9135G>A
6g.51753293A=CA1628510109PKHD1c.8858T= (p.Leu2953=)
c.8729T= (p.Leu2910=)
c.8720T= (p.Leu2907=)
c.8216T= (p.Leu2739=)
c.8147T= (p.Leu2716=)
c.2933T= (p.Leu978=)
c.8783T= (p.Leu2928=)
c.8663T= (p.Leu2888=)
c.8594T= (p.Leu2865=)
c.6998T= (p.Leu2333=)
c.*1462T= (n.*1462T=)
n.9134T=
6g.51753293A>CCA364426995PKHD1c.8858T>G (p.Leu2953Trp)
c.8729T>G (p.Leu2910Trp)
c.8720T>G (p.Leu2907Trp)
c.8216T>G (p.Leu2739Trp)
c.8147T>G (p.Leu2716Trp)
c.2933T>G (p.Leu978Trp)
c.8783T>G (p.Leu2928Trp)
c.8663T>G (p.Leu2888Trp)
c.8594T>G (p.Leu2865Trp)
c.6998T>G (p.Leu2333Trp)
c.*1462T>G (n.*1462T>G)
n.9134T>G
6g.51753293A>GCA364426997PKHD1c.8858T>C (p.Leu2953Ser)
c.8729T>C (p.Leu2910Ser)
c.8720T>C (p.Leu2907Ser)
c.8216T>C (p.Leu2739Ser)
c.8147T>C (p.Leu2716Ser)
c.2933T>C (p.Leu978Ser)
c.8783T>C (p.Leu2928Ser)
c.8663T>C (p.Leu2888Ser)
c.8594T>C (p.Leu2865Ser)
c.6998T>C (p.Leu2333Ser)
c.*1462T>C (n.*1462T>C)
n.9134T>C
 dbSNP gnomAD v4
6g.51753293A>TCA364426999PKHD1c.8858T>A (p.Leu2953Ter)
c.8729T>A (p.Leu2910Ter)
c.8720T>A (p.Leu2907Ter)
c.8216T>A (p.Leu2739Ter)
c.8147T>A (p.Leu2716Ter)
c.2933T>A (p.Leu978Ter)
c.8783T>A (p.Leu2928Ter)
c.8663T>A (p.Leu2888Ter)
c.8594T>A (p.Leu2865Ter)
c.6998T>A (p.Leu2333Ter)
c.*1462T>A (n.*1462T>A)
n.9134T>A
6g.51753294A>CCA364427001PKHD1c.8857T>G (p.Leu2953Val)
c.8728T>G (p.Leu2910Val)
c.8719T>G (p.Leu2907Val)
c.8215T>G (p.Leu2739Val)
c.8146T>G (p.Leu2716Val)
c.2932T>G (p.Leu978Val)
c.8782T>G (p.Leu2928Val)
c.8662T>G (p.Leu2888Val)
c.8593T>G (p.Leu2865Val)
c.6997T>G (p.Leu2333Val)
c.*1461T>G (n.*1461T>G)
n.9133T>G
6g.51753294A>GCA450412663PKHD1c.8857T>C (p.Leu2953=)
c.8728T>C (p.Leu2910=)
c.8719T>C (p.Leu2907=)
c.8215T>C (p.Leu2739=)
c.8146T>C (p.Leu2716=)
c.2932T>C (p.Leu978=)
c.8782T>C (p.Leu2928=)
c.8662T>C (p.Leu2888=)
c.8593T>C (p.Leu2865=)
c.6997T>C (p.Leu2333=)
c.*1461T>C (n.*1461T>C)
n.9133T>C
6g.51753294A>TCA364427004PKHD1c.8857T>A (p.Leu2953Met)
c.8728T>A (p.Leu2910Met)
c.8719T>A (p.Leu2907Met)
c.8215T>A (p.Leu2739Met)
c.8146T>A (p.Leu2716Met)
c.2932T>A (p.Leu978Met)
c.8782T>A (p.Leu2928Met)
c.8662T>A (p.Leu2888Met)
c.8593T>A (p.Leu2865Met)
c.6997T>A (p.Leu2333Met)
c.*1461T>A (n.*1461T>A)
n.9133T>A
6g.51753295delCA2695198861PKHD1c.8856del (p.Leu2953Ter)
c.8727del (p.Leu2910Ter)
c.8718del (p.Leu2907Ter)
c.8214del (p.Leu2739Ter)
c.8145del (p.Leu2716Ter)
c.2931del (p.Leu978Ter)
c.8781del (p.Leu2928Ter)
c.8661del (p.Leu2888Ter)
c.8592del (p.Leu2865Ter)
c.6996del (p.Leu2333Ter)
c.*1460del (n.*1460del)
n.9132del
 ClinVar
6g.51753295C>ACA450412664PKHD1c.8856G>T (p.Leu2952=)
c.8727G>T (p.Leu2909=)
c.8718G>T (p.Leu2906=)
c.8214G>T (p.Leu2738=)
c.8145G>T (p.Leu2715=)
c.2931G>T (p.Leu977=)
c.8781G>T (p.Leu2927=)
c.8661G>T (p.Leu2887=)
c.8592G>T (p.Leu2864=)
c.6996G>T (p.Leu2332=)
c.*1460G>T (n.*1460G>T)
n.9132G>T
6g.51753295C>GCA450412665PKHD1c.8856G>C (p.Leu2952=)
c.8727G>C (p.Leu2909=)
c.8718G>C (p.Leu2906=)
c.8214G>C (p.Leu2738=)
c.8145G>C (p.Leu2715=)
c.2931G>C (p.Leu977=)
c.8781G>C (p.Leu2927=)
c.8661G>C (p.Leu2887=)
c.8592G>C (p.Leu2864=)
c.6996G>C (p.Leu2332=)
c.*1460G>C (n.*1460G>C)
n.9132G>C
 gnomAD v4
6g.51753295C>TCA450412666PKHD1c.8856G>A (p.Leu2952=)
c.8727G>A (p.Leu2909=)
c.8718G>A (p.Leu2906=)
c.8214G>A (p.Leu2738=)
c.8145G>A (p.Leu2715=)
c.2931G>A (p.Leu977=)
c.8781G>A (p.Leu2927=)
c.8661G>A (p.Leu2887=)
c.8592G>A (p.Leu2864=)
c.6996G>A (p.Leu2332=)
c.*1460G>A (n.*1460G>A)
n.9132G>A
6g.51753296A=CA1628510115PKHD1c.8855T= (p.Leu2952=)
c.8726T= (p.Leu2909=)
c.8717T= (p.Leu2906=)
c.8213T= (p.Leu2738=)
c.8144T= (p.Leu2715=)
c.2930T= (p.Leu977=)
c.8780T= (p.Leu2927=)
c.8660T= (p.Leu2887=)
c.8591T= (p.Leu2864=)
c.6995T= (p.Leu2332=)
c.*1459T= (n.*1459T=)
n.9131T=
6g.51753296A>CCA364427006PKHD1c.8855T>G (p.Leu2952Arg)
c.8726T>G (p.Leu2909Arg)
c.8717T>G (p.Leu2906Arg)
c.8213T>G (p.Leu2738Arg)
c.8144T>G (p.Leu2715Arg)
c.2930T>G (p.Leu977Arg)
c.8780T>G (p.Leu2927Arg)
c.8660T>G (p.Leu2887Arg)
c.8591T>G (p.Leu2864Arg)
c.6995T>G (p.Leu2332Arg)
c.*1459T>G (n.*1459T>G)
n.9131T>G
6g.51753296A>GCA364427012PKHD1c.8855T>C (p.Leu2952Pro)
c.8726T>C (p.Leu2909Pro)
c.8717T>C (p.Leu2906Pro)
c.8213T>C (p.Leu2738Pro)
c.8144T>C (p.Leu2715Pro)
c.2930T>C (p.Leu977Pro)
c.8780T>C (p.Leu2927Pro)
c.8660T>C (p.Leu2887Pro)
c.8591T>C (p.Leu2864Pro)
c.6995T>C (p.Leu2332Pro)
c.*1459T>C (n.*1459T>C)
n.9131T>C
 dbSNP gnomAD v2
6g.51753296A>TCA364427009PKHD1c.8855T>A (p.Leu2952Gln)
c.8726T>A (p.Leu2909Gln)
c.8717T>A (p.Leu2906Gln)
c.8213T>A (p.Leu2738Gln)
c.8144T>A (p.Leu2715Gln)
c.2930T>A (p.Leu977Gln)
c.8780T>A (p.Leu2927Gln)
c.8660T>A (p.Leu2887Gln)
c.8591T>A (p.Leu2864Gln)
c.6995T>A (p.Leu2332Gln)
c.*1459T>A (n.*1459T>A)
n.9131T>A
6g.51753297G>ACA450412668PKHD1c.8854C>T (p.Leu2952=)
c.8725C>T (p.Leu2909=)
c.8716C>T (p.Leu2906=)
c.8212C>T (p.Leu2738=)
c.8143C>T (p.Leu2715=)
c.2929C>T (p.Leu977=)
c.8779C>T (p.Leu2927=)
c.8659C>T (p.Leu2887=)
c.8590C>T (p.Leu2864=)
c.6994C>T (p.Leu2332=)
c.*1458C>T (n.*1458C>T)
n.9130C>T
 ClinVar dbSNP
6g.51753297G>CCA364427013PKHD1c.8854C>G (p.Leu2952Val)
c.8725C>G (p.Leu2909Val)
c.8716C>G (p.Leu2906Val)
c.8212C>G (p.Leu2738Val)
c.8143C>G (p.Leu2715Val)
c.2929C>G (p.Leu977Val)
c.8779C>G (p.Leu2927Val)
c.8659C>G (p.Leu2887Val)
c.8590C>G (p.Leu2864Val)
c.6994C>G (p.Leu2332Val)
c.*1458C>G (n.*1458C>G)
n.9130C>G
6g.51753297G>TCA364427015PKHD1c.8854C>A (p.Leu2952Met)
c.8725C>A (p.Leu2909Met)
c.8716C>A (p.Leu2906Met)
c.8212C>A (p.Leu2738Met)
c.8143C>A (p.Leu2715Met)
c.2929C>A (p.Leu977Met)
c.8779C>A (p.Leu2927Met)
c.8659C>A (p.Leu2887Met)
c.8590C>A (p.Leu2864Met)
c.6994C>A (p.Leu2332Met)
c.*1458C>A (n.*1458C>A)
n.9130C>A
6g.51753298T>ACA450412670PKHD1c.8853A>T (p.Gly2951=)
c.8724A>T (p.Gly2908=)
c.8715A>T (p.Gly2905=)
c.8211A>T (p.Gly2737=)
c.8142A>T (p.Gly2714=)
c.2928A>T (p.Gly976=)
c.8778A>T (p.Gly2926=)
c.8658A>T (p.Gly2886=)
c.8589A>T (p.Gly2863=)
c.6993A>T (p.Gly2331=)
c.*1457A>T (n.*1457A>T)
n.9129A>T
6g.51753298T>CCA450412671PKHD1c.8853A>G (p.Gly2951=)
c.8724A>G (p.Gly2908=)
c.8715A>G (p.Gly2905=)
c.8211A>G (p.Gly2737=)
c.8142A>G (p.Gly2714=)
c.2928A>G (p.Gly976=)
c.8778A>G (p.Gly2926=)
c.8658A>G (p.Gly2886=)
c.8589A>G (p.Gly2863=)
c.6993A>G (p.Gly2331=)
c.*1457A>G (n.*1457A>G)
n.9129A>G
 gnomAD v4
6g.51753298T>GCA450412672PKHD1c.8853A>C (p.Gly2951=)
c.8724A>C (p.Gly2908=)
c.8715A>C (p.Gly2905=)
c.8211A>C (p.Gly2737=)
c.8142A>C (p.Gly2714=)
c.2928A>C (p.Gly976=)
c.8778A>C (p.Gly2926=)
c.8658A>C (p.Gly2886=)
c.8589A>C (p.Gly2863=)
c.6993A>C (p.Gly2331=)
c.*1457A>C (n.*1457A>C)
n.9129A>C
6g.51753299C>ACA364427018PKHD1c.8852G>T (p.Gly2951Val)
c.8723G>T (p.Gly2908Val)
c.8714G>T (p.Gly2905Val)
c.8210G>T (p.Gly2737Val)
c.8141G>T (p.Gly2714Val)
c.2927G>T (p.Gly976Val)
c.8777G>T (p.Gly2926Val)
c.8657G>T (p.Gly2886Val)
c.8588G>T (p.Gly2863Val)
c.6992G>T (p.Gly2331Val)
c.*1456G>T (n.*1456G>T)
n.9128G>T
 ClinVar dbSNP
6g.51753299C>GCA364427020PKHD1c.8852G>C (p.Gly2951Ala)
c.8723G>C (p.Gly2908Ala)
c.8714G>C (p.Gly2905Ala)
c.8210G>C (p.Gly2737Ala)
c.8141G>C (p.Gly2714Ala)
c.2927G>C (p.Gly976Ala)
c.8777G>C (p.Gly2926Ala)
c.8657G>C (p.Gly2886Ala)
c.8588G>C (p.Gly2863Ala)
c.6992G>C (p.Gly2331Ala)
c.*1456G>C (n.*1456G>C)
n.9128G>C
6g.51753299C>TCA364427021PKHD1c.8852G>A (p.Gly2951Glu)
c.8723G>A (p.Gly2908Glu)
c.8714G>A (p.Gly2905Glu)
c.8210G>A (p.Gly2737Glu)
c.8141G>A (p.Gly2714Glu)
c.2927G>A (p.Gly976Glu)
c.8777G>A (p.Gly2926Glu)
c.8657G>A (p.Gly2886Glu)
c.8588G>A (p.Gly2863Glu)
c.6992G>A (p.Gly2331Glu)
c.*1456G>A (n.*1456G>A)
n.9128G>A
6g.51753300C>ACA364427022PKHD1c.8851G>T (p.Gly2951Ter)
c.8722G>T (p.Gly2908Ter)
c.8713G>T (p.Gly2905Ter)
c.8209G>T (p.Gly2737Ter)
c.8140G>T (p.Gly2714Ter)
c.2926G>T (p.Gly976Ter)
c.8776G>T (p.Gly2926Ter)
c.8656G>T (p.Gly2886Ter)
c.8587G>T (p.Gly2863Ter)
c.6991G>T (p.Gly2331Ter)
c.*1455G>T (n.*1455G>T)
n.9127G>T
6g.51753300C>GCA364427024PKHD1c.8851G>C (p.Gly2951Arg)
c.8722G>C (p.Gly2908Arg)
c.8713G>C (p.Gly2905Arg)
c.8209G>C (p.Gly2737Arg)
c.8140G>C (p.Gly2714Arg)
c.2926G>C (p.Gly976Arg)
c.8776G>C (p.Gly2926Arg)
c.8656G>C (p.Gly2886Arg)
c.8587G>C (p.Gly2863Arg)
c.6991G>C (p.Gly2331Arg)
c.*1455G>C (n.*1455G>C)
n.9127G>C
6g.51753300C>TCA364427030PKHD1c.8851G>A (p.Gly2951Arg)
c.8722G>A (p.Gly2908Arg)
c.8713G>A (p.Gly2905Arg)
c.8209G>A (p.Gly2737Arg)
c.8140G>A (p.Gly2714Arg)
c.2926G>A (p.Gly976Arg)
c.8776G>A (p.Gly2926Arg)
c.8656G>A (p.Gly2886Arg)
c.8587G>A (p.Gly2863Arg)
c.6991G>A (p.Gly2331Arg)
c.*1455G>A (n.*1455G>A)
n.9127G>A
 COSMIC COSMIC
6g.51753301A=CA1628510120PKHD1c.8850T= (p.Val2950=)
c.8721T= (p.Val2907=)
c.8712T= (p.Val2904=)
c.8208T= (p.Val2736=)
c.8139T= (p.Val2713=)
c.2925T= (p.Val975=)
c.8775T= (p.Val2925=)
c.8655T= (p.Val2885=)
c.8586T= (p.Val2862=)
c.6990T= (p.Val2330=)
c.*1454T= (n.*1454T=)
n.9126T=
6g.51753301A>CCA450412673PKHD1c.8850T>G (p.Val2950=)
c.8721T>G (p.Val2907=)
c.8712T>G (p.Val2904=)
c.8208T>G (p.Val2736=)
c.8139T>G (p.Val2713=)
c.2925T>G (p.Val975=)
c.8775T>G (p.Val2925=)
c.8655T>G (p.Val2885=)
c.8586T>G (p.Val2862=)
c.6990T>G (p.Val2330=)
c.*1454T>G (n.*1454T>G)
n.9126T>G
6g.51753301A>GCA450412674PKHD1c.8850T>C (p.Val2950=)
c.8721T>C (p.Val2907=)
c.8712T>C (p.Val2904=)
c.8208T>C (p.Val2736=)
c.8139T>C (p.Val2713=)
c.2925T>C (p.Val975=)
c.8775T>C (p.Val2925=)
c.8655T>C (p.Val2885=)
c.8586T>C (p.Val2862=)
c.6990T>C (p.Val2330=)
c.*1454T>C (n.*1454T>C)
n.9126T>C
 ClinVar dbSNP
6g.51753301A>TCA450412675PKHD1c.8850T>A (p.Val2950=)
c.8721T>A (p.Val2907=)
c.8712T>A (p.Val2904=)
c.8208T>A (p.Val2736=)
c.8139T>A (p.Val2713=)
c.2925T>A (p.Val975=)
c.8775T>A (p.Val2925=)
c.8655T>A (p.Val2885=)
c.8586T>A (p.Val2862=)
c.6990T>A (p.Val2330=)
c.*1454T>A (n.*1454T>A)
n.9126T>A
6g.51753302delCA645546422PKHD1c.8850del (p.Gly2951AspfsTer3)
c.8721del (p.Gly2908AspfsTer3)
c.8712del (p.Gly2905AspfsTer3)
c.8208del (p.Gly2737AspfsTer3)
c.8139del (p.Gly2714AspfsTer3)
c.2925del (p.Gly976AspfsTer3)
c.8775del (p.Gly2926AspfsTer3)
c.8655del (p.Gly2886AspfsTer3)
c.8586del (p.Gly2863AspfsTer3)
c.6990del (p.Gly2331AspfsTer3)
c.*1454del (n.*1454del)
n.9126del
 COSMIC COSMIC
6g.51753302A=CA1628510125PKHD1c.8849T= (p.Val2950=)
c.8720T= (p.Val2907=)
c.8711T= (p.Val2904=)
c.8207T= (p.Val2736=)
c.8138T= (p.Val2713=)
c.2924T= (p.Val975=)
c.8774T= (p.Val2925=)
c.8654T= (p.Val2885=)
c.8585T= (p.Val2862=)
c.6989T= (p.Val2330=)
c.*1453T= (n.*1453T=)
n.9125T=
6g.51753302A>CCA364427033PKHD1c.8849T>G (p.Val2950Gly)
c.8720T>G (p.Val2907Gly)
c.8711T>G (p.Val2904Gly)
c.8207T>G (p.Val2736Gly)
c.8138T>G (p.Val2713Gly)
c.2924T>G (p.Val975Gly)
c.8774T>G (p.Val2925Gly)
c.8654T>G (p.Val2885Gly)
c.8585T>G (p.Val2862Gly)
c.6989T>G (p.Val2330Gly)
c.*1453T>G (n.*1453T>G)
n.9125T>G
 dbSNP
6g.51753302A>GCA364427035PKHD1c.8849T>C (p.Val2950Ala)
c.8720T>C (p.Val2907Ala)
c.8711T>C (p.Val2904Ala)
c.8207T>C (p.Val2736Ala)
c.8138T>C (p.Val2713Ala)
c.2924T>C (p.Val975Ala)
c.8774T>C (p.Val2925Ala)
c.8654T>C (p.Val2885Ala)
c.8585T>C (p.Val2862Ala)
c.6989T>C (p.Val2330Ala)
c.*1453T>C (n.*1453T>C)
n.9125T>C
6g.51753302A>TCA364427037PKHD1c.8849T>A (p.Val2950Asp)
c.8720T>A (p.Val2907Asp)
c.8711T>A (p.Val2904Asp)
c.8207T>A (p.Val2736Asp)
c.8138T>A (p.Val2713Asp)
c.2924T>A (p.Val975Asp)
c.8774T>A (p.Val2925Asp)
c.8654T>A (p.Val2885Asp)
c.8585T>A (p.Val2862Asp)
c.6989T>A (p.Val2330Asp)
c.*1453T>A (n.*1453T>A)
n.9125T>A
6g.51753303C>ACA364427041PKHD1c.8848G>T (p.Val2950Phe)
c.8719G>T (p.Val2907Phe)
c.8710G>T (p.Val2904Phe)
c.8206G>T (p.Val2736Phe)
c.8137G>T (p.Val2713Phe)
c.2923G>T (p.Val975Phe)
c.8773G>T (p.Val2925Phe)
c.8653G>T (p.Val2885Phe)
c.8584G>T (p.Val2862Phe)
c.6988G>T (p.Val2330Phe)
c.*1452G>T (n.*1452G>T)
n.9124G>T
6g.51753303C=CA1628510135PKHD1c.8848G= (p.Val2950=)
c.8719G= (p.Val2907=)
c.8710G= (p.Val2904=)
c.8206G= (p.Val2736=)
c.8137G= (p.Val2713=)
c.2923G= (p.Val975=)
c.8773G= (p.Val2925=)
c.8653G= (p.Val2885=)
c.8584G= (p.Val2862=)
c.6988G= (p.Val2330=)
c.*1452G= (n.*1452G=)
n.9124G=
6g.51753303C>GCA364427044PKHD1c.8848G>C (p.Val2950Leu)
c.8719G>C (p.Val2907Leu)
c.8710G>C (p.Val2904Leu)
c.8206G>C (p.Val2736Leu)
c.8137G>C (p.Val2713Leu)
c.2923G>C (p.Val975Leu)
c.8773G>C (p.Val2925Leu)
c.8653G>C (p.Val2885Leu)
c.8584G>C (p.Val2862Leu)
c.6988G>C (p.Val2330Leu)
c.*1452G>C (n.*1452G>C)
n.9124G>C
 dbSNP gnomAD v4
6g.51753303C>TCA3851504PKHD1c.8848G>A (p.Val2950Ile)
c.8719G>A (p.Val2907Ile)
c.8710G>A (p.Val2904Ile)
c.8206G>A (p.Val2736Ile)
c.8137G>A (p.Val2713Ile)
c.2923G>A (p.Val975Ile)
c.8773G>A (p.Val2925Ile)
c.8653G>A (p.Val2885Ile)
c.8584G>A (p.Val2862Ile)
c.6988G>A (p.Val2330Ile)
c.*1452G>A (n.*1452G>A)
n.9124G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51753304C>ACA364427047PKHD1c.8847G>T (p.Glu2949Asp)
c.8718G>T (p.Glu2906Asp)
c.8709G>T (p.Glu2903Asp)
c.8205G>T (p.Glu2735Asp)
c.8136G>T (p.Glu2712Asp)
c.2922G>T (p.Glu974Asp)
c.8772G>T (p.Glu2924Asp)
c.8652G>T (p.Glu2884Asp)
c.8583G>T (p.Glu2861Asp)
c.6987G>T (p.Glu2329Asp)
c.*1451G>T (n.*1451G>T)
n.9123G>T
6g.51753304C=CA1628510141PKHD1c.8847G= (p.Glu2949=)
c.8718G= (p.Glu2906=)
c.8709G= (p.Glu2903=)
c.8205G= (p.Glu2735=)
c.8136G= (p.Glu2712=)
c.2922G= (p.Glu974=)
c.8772G= (p.Glu2924=)
c.8652G= (p.Glu2884=)
c.8583G= (p.Glu2861=)
c.6987G= (p.Glu2329=)
c.*1451G= (n.*1451G=)
n.9123G=
6g.51753304C>GCA364427048PKHD1c.8847G>C (p.Glu2949Asp)
c.8718G>C (p.Glu2906Asp)
c.8709G>C (p.Glu2903Asp)
c.8205G>C (p.Glu2735Asp)
c.8136G>C (p.Glu2712Asp)
c.2922G>C (p.Glu974Asp)
c.8772G>C (p.Glu2924Asp)
c.8652G>C (p.Glu2884Asp)
c.8583G>C (p.Glu2861Asp)
c.6987G>C (p.Glu2329Asp)
c.*1451G>C (n.*1451G>C)
n.9123G>C
 gnomAD v4
6g.51753304C>TCA450412678PKHD1c.8847G>A (p.Glu2949=)
c.8718G>A (p.Glu2906=)
c.8709G>A (p.Glu2903=)
c.8205G>A (p.Glu2735=)
c.8136G>A (p.Glu2712=)
c.2922G>A (p.Glu974=)
c.8772G>A (p.Glu2924=)
c.8652G>A (p.Glu2884=)
c.8583G>A (p.Glu2861=)
c.6987G>A (p.Glu2329=)
c.*1451G>A (n.*1451G>A)
n.9123G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51753305_51753306delCA2580075521PKHD1c.8846_8847del (p.Glu2949GlyfsTer13)
c.8717_8718del (p.Glu2906GlyfsTer13)
c.8708_8709del (p.Glu2903GlyfsTer13)
c.8204_8205del (p.Glu2735GlyfsTer13)
c.8135_8136del (p.Glu2712GlyfsTer13)
c.2921_2922del (p.Glu974GlyfsTer13)
c.8771_8772del (p.Glu2924GlyfsTer13)
c.8651_8652del (p.Glu2884GlyfsTer13)
c.8582_8583del (p.Glu2861GlyfsTer13)
c.6986_6987del (p.Glu2329GlyfsTer13)
c.*1450_*1451del (n.*1450_*1451del)
n.9122_9123del
 ClinVar
6g.51753305T>ACA364427050PKHD1c.8846A>T (p.Glu2949Val)
c.8717A>T (p.Glu2906Val)
c.8708A>T (p.Glu2903Val)
c.8204A>T (p.Glu2735Val)
c.8135A>T (p.Glu2712Val)
c.2921A>T (p.Glu974Val)
c.8771A>T (p.Glu2924Val)
c.8651A>T (p.Glu2884Val)
c.8582A>T (p.Glu2861Val)
c.6986A>T (p.Glu2329Val)
c.*1450A>T (n.*1450A>T)
n.9122A>T
6g.51753305T>CCA364427052PKHD1c.8846A>G (p.Glu2949Gly)
c.8717A>G (p.Glu2906Gly)
c.8708A>G (p.Glu2903Gly)
c.8204A>G (p.Glu2735Gly)
c.8135A>G (p.Glu2712Gly)
c.2921A>G (p.Glu974Gly)
c.8771A>G (p.Glu2924Gly)
c.8651A>G (p.Glu2884Gly)
c.8582A>G (p.Glu2861Gly)
c.6986A>G (p.Glu2329Gly)
c.*1450A>G (n.*1450A>G)
n.9122A>G
6g.51753305T>GCA364427055PKHD1c.8846A>C (p.Glu2949Ala)
c.8717A>C (p.Glu2906Ala)
c.8708A>C (p.Glu2903Ala)
c.8204A>C (p.Glu2735Ala)
c.8135A>C (p.Glu2712Ala)
c.2921A>C (p.Glu974Ala)
c.8771A>C (p.Glu2924Ala)
c.8651A>C (p.Glu2884Ala)
c.8582A>C (p.Glu2861Ala)
c.6986A>C (p.Glu2329Ala)
c.*1450A>C (n.*1450A>C)
n.9122A>C
6g.51753306C>ACA364427058PKHD1c.8845G>T (p.Glu2949Ter)
c.8716G>T (p.Glu2906Ter)
c.8707G>T (p.Glu2903Ter)
c.8203G>T (p.Glu2735Ter)
c.8134G>T (p.Glu2712Ter)
c.2920G>T (p.Glu974Ter)
c.8770G>T (p.Glu2924Ter)
c.8650G>T (p.Glu2884Ter)
c.8581G>T (p.Glu2861Ter)
c.6985G>T (p.Glu2329Ter)
c.*1449G>T (n.*1449G>T)
n.9121G>T
6g.51753306C>GCA364427060PKHD1c.8845G>C (p.Glu2949Gln)
c.8716G>C (p.Glu2906Gln)
c.8707G>C (p.Glu2903Gln)
c.8203G>C (p.Glu2735Gln)
c.8134G>C (p.Glu2712Gln)
c.2920G>C (p.Glu974Gln)
c.8770G>C (p.Glu2924Gln)
c.8650G>C (p.Glu2884Gln)
c.8581G>C (p.Glu2861Gln)
c.6985G>C (p.Glu2329Gln)
c.*1449G>C (n.*1449G>C)
n.9121G>C
 gnomAD v4
6g.51753306C>TCA364427063PKHD1c.8845G>A (p.Glu2949Lys)
c.8716G>A (p.Glu2906Lys)
c.8707G>A (p.Glu2903Lys)
c.8203G>A (p.Glu2735Lys)
c.8134G>A (p.Glu2712Lys)
c.2920G>A (p.Glu974Lys)
c.8770G>A (p.Glu2924Lys)
c.8650G>A (p.Glu2884Lys)
c.8581G>A (p.Glu2861Lys)
c.6985G>A (p.Glu2329Lys)
c.*1449G>A (n.*1449G>A)
n.9121G>A
6g.51753307A>CCA450412682PKHD1c.8844T>G (p.Ala2948=)
c.8715T>G (p.Ala2905=)
c.8706T>G (p.Ala2902=)
c.8202T>G (p.Ala2734=)
c.8133T>G (p.Ala2711=)
c.2919T>G (p.Ala973=)
c.8769T>G (p.Ala2923=)
c.8649T>G (p.Ala2883=)
c.8580T>G (p.Ala2860=)
c.6984T>G (p.Ala2328=)
c.*1448T>G (n.*1448T>G)
n.9120T>G
6g.51753307A>GCA450412683PKHD1c.8844T>C (p.Ala2948=)
c.8715T>C (p.Ala2905=)
c.8706T>C (p.Ala2902=)
c.8202T>C (p.Ala2734=)
c.8133T>C (p.Ala2711=)
c.2919T>C (p.Ala973=)
c.8769T>C (p.Ala2923=)
c.8649T>C (p.Ala2883=)
c.8580T>C (p.Ala2860=)
c.6984T>C (p.Ala2328=)
c.*1448T>C (n.*1448T>C)
n.9120T>C
 dbSNP gnomAD v3 gnomAD v4
6g.51753307A>TCA450412684PKHD1c.8844T>A (p.Ala2948=)
c.8715T>A (p.Ala2905=)
c.8706T>A (p.Ala2902=)
c.8202T>A (p.Ala2734=)
c.8133T>A (p.Ala2711=)
c.2919T>A (p.Ala973=)
c.8769T>A (p.Ala2923=)
c.8649T>A (p.Ala2883=)
c.8580T>A (p.Ala2860=)
c.6984T>A (p.Ala2328=)
c.*1448T>A (n.*1448T>A)
n.9120T>A
6g.51753308G>ACA3851505PKHD1c.8843C>T (p.Ala2948Val)
c.8714C>T (p.Ala2905Val)
c.8705C>T (p.Ala2902Val)
c.8201C>T (p.Ala2734Val)
c.8132C>T (p.Ala2711Val)
c.2918C>T (p.Ala973Val)
c.8768C>T (p.Ala2923Val)
c.8648C>T (p.Ala2883Val)
c.8579C>T (p.Ala2860Val)
c.6983C>T (p.Ala2328Val)
c.*1447C>T (n.*1447C>T)
n.9119C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51753308G>CCA364427066PKHD1c.8843C>G (p.Ala2948Gly)
c.8714C>G (p.Ala2905Gly)
c.8705C>G (p.Ala2902Gly)
c.8201C>G (p.Ala2734Gly)
c.8132C>G (p.Ala2711Gly)
c.2918C>G (p.Ala973Gly)
c.8768C>G (p.Ala2923Gly)
c.8648C>G (p.Ala2883Gly)
c.8579C>G (p.Ala2860Gly)
c.6983C>G (p.Ala2328Gly)
c.*1447C>G (n.*1447C>G)
n.9119C>G
6g.51753308G=CA1628510146PKHD1c.8843C= (p.Ala2948=)
c.8714C= (p.Ala2905=)
c.8705C= (p.Ala2902=)
c.8201C= (p.Ala2734=)
c.8132C= (p.Ala2711=)
c.2918C= (p.Ala973=)
c.8768C= (p.Ala2923=)
c.8648C= (p.Ala2883=)
c.8579C= (p.Ala2860=)
c.6983C= (p.Ala2328=)
c.*1447C= (n.*1447C=)
n.9119C=
6g.51753308G>TCA364427069PKHD1c.8843C>A (p.Ala2948Asp)
c.8714C>A (p.Ala2905Asp)
c.8705C>A (p.Ala2902Asp)
c.8201C>A (p.Ala2734Asp)
c.8132C>A (p.Ala2711Asp)
c.2918C>A (p.Ala973Asp)
c.8768C>A (p.Ala2923Asp)
c.8648C>A (p.Ala2883Asp)
c.8579C>A (p.Ala2860Asp)
c.6983C>A (p.Ala2328Asp)
c.*1447C>A (n.*1447C>A)
n.9119C>A
6g.51753309C>ACA364427072PKHD1c.8842G>T (p.Ala2948Ser)
c.8713G>T (p.Ala2905Ser)
c.8704G>T (p.Ala2902Ser)
c.8200G>T (p.Ala2734Ser)
c.8131G>T (p.Ala2711Ser)
c.2917G>T (p.Ala973Ser)
c.8767G>T (p.Ala2923Ser)
c.8647G>T (p.Ala2883Ser)
c.8578G>T (p.Ala2860Ser)
c.6982G>T (p.Ala2328Ser)
c.*1446G>T (n.*1446G>T)
n.9118G>T
6g.51753309C>GCA364427074PKHD1c.8842G>C (p.Ala2948Pro)
c.8713G>C (p.Ala2905Pro)
c.8704G>C (p.Ala2902Pro)
c.8200G>C (p.Ala2734Pro)
c.8131G>C (p.Ala2711Pro)
c.2917G>C (p.Ala973Pro)
c.8767G>C (p.Ala2923Pro)
c.8647G>C (p.Ala2883Pro)
c.8578G>C (p.Ala2860Pro)
c.6982G>C (p.Ala2328Pro)
c.*1446G>C (n.*1446G>C)
n.9118G>C
6g.51753309C>TCA364427077PKHD1c.8842G>A (p.Ala2948Thr)
c.8713G>A (p.Ala2905Thr)
c.8704G>A (p.Ala2902Thr)
c.8200G>A (p.Ala2734Thr)
c.8131G>A (p.Ala2711Thr)
c.2917G>A (p.Ala973Thr)
c.8767G>A (p.Ala2923Thr)
c.8647G>A (p.Ala2883Thr)
c.8578G>A (p.Ala2860Thr)
c.6982G>A (p.Ala2328Thr)
c.*1446G>A (n.*1446G>A)
n.9118G>A
6g.51753310A=CA1628510152PKHD1c.8841T= (p.Ala2947=)
c.8712T= (p.Ala2904=)
c.8703T= (p.Ala2901=)
c.8199T= (p.Ala2733=)
c.8130T= (p.Ala2710=)
c.2916T= (p.Ala972=)
c.8766T= (p.Ala2922=)
c.8646T= (p.Ala2882=)
c.8577T= (p.Ala2859=)
c.6981T= (p.Ala2327=)
c.*1445T= (n.*1445T=)
n.9117T=
6g.51753310A>CCA450412685PKHD1c.8841T>G (p.Ala2947=)
c.8712T>G (p.Ala2904=)
c.8703T>G (p.Ala2901=)
c.8199T>G (p.Ala2733=)
c.8130T>G (p.Ala2710=)
c.2916T>G (p.Ala972=)
c.8766T>G (p.Ala2922=)
c.8646T>G (p.Ala2882=)
c.8577T>G (p.Ala2859=)
c.6981T>G (p.Ala2327=)
c.*1445T>G (n.*1445T>G)
n.9117T>G
6g.51753310A>GCA3851506PKHD1c.8841T>C (p.Ala2947=)
c.8712T>C (p.Ala2904=)
c.8703T>C (p.Ala2901=)
c.8199T>C (p.Ala2733=)
c.8130T>C (p.Ala2710=)
c.2916T>C (p.Ala972=)
c.8766T>C (p.Ala2922=)
c.8646T>C (p.Ala2882=)
c.8577T>C (p.Ala2859=)
c.6981T>C (p.Ala2327=)
c.*1445T>C (n.*1445T>C)
n.9117T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51753310A>TCA450412687PKHD1c.8841T>A (p.Ala2947=)
c.8712T>A (p.Ala2904=)
c.8703T>A (p.Ala2901=)
c.8199T>A (p.Ala2733=)
c.8130T>A (p.Ala2710=)
c.2916T>A (p.Ala972=)
c.8766T>A (p.Ala2922=)
c.8646T>A (p.Ala2882=)
c.8577T>A (p.Ala2859=)
c.6981T>A (p.Ala2327=)
c.*1445T>A (n.*1445T>A)
n.9117T>A
 gnomAD v4
6g.51753311G>ACA364427082PKHD1c.8840C>T (p.Ala2947Val)
c.8711C>T (p.Ala2904Val)
c.8702C>T (p.Ala2901Val)
c.8198C>T (p.Ala2733Val)
c.8129C>T (p.Ala2710Val)
c.2915C>T (p.Ala972Val)
c.8765C>T (p.Ala2922Val)
c.8645C>T (p.Ala2882Val)
c.8576C>T (p.Ala2859Val)
c.6980C>T (p.Ala2327Val)
c.*1444C>T (n.*1444C>T)
n.9116C>T
6g.51753311G>CCA364427087PKHD1c.8840C>G (p.Ala2947Gly)
c.8711C>G (p.Ala2904Gly)
c.8702C>G (p.Ala2901Gly)
c.8198C>G (p.Ala2733Gly)
c.8129C>G (p.Ala2710Gly)
c.2915C>G (p.Ala972Gly)
c.8765C>G (p.Ala2922Gly)
c.8645C>G (p.Ala2882Gly)
c.8576C>G (p.Ala2859Gly)
c.6980C>G (p.Ala2327Gly)
c.*1444C>G (n.*1444C>G)
n.9116C>G
6g.51753311G>TCA364427085PKHD1c.8840C>A (p.Ala2947Asp)
c.8711C>A (p.Ala2904Asp)
c.8702C>A (p.Ala2901Asp)
c.8198C>A (p.Ala2733Asp)
c.8129C>A (p.Ala2710Asp)
c.2915C>A (p.Ala972Asp)
c.8765C>A (p.Ala2922Asp)
c.8645C>A (p.Ala2882Asp)
c.8576C>A (p.Ala2859Asp)
c.6980C>A (p.Ala2327Asp)
c.*1444C>A (n.*1444C>A)
n.9116C>A
6g.51753312C>ACA364427090PKHD1c.8839G>T (p.Ala2947Ser)
c.8710G>T (p.Ala2904Ser)
c.8701G>T (p.Ala2901Ser)
c.8197G>T (p.Ala2733Ser)
c.8128G>T (p.Ala2710Ser)
c.2914G>T (p.Ala972Ser)
c.8764G>T (p.Ala2922Ser)
c.8644G>T (p.Ala2882Ser)
c.8575G>T (p.Ala2859Ser)
c.6979G>T (p.Ala2327Ser)
c.*1443G>T (n.*1443G>T)
n.9115G>T
6g.51753312C>GCA364427092PKHD1c.8839G>C (p.Ala2947Pro)
c.8710G>C (p.Ala2904Pro)
c.8701G>C (p.Ala2901Pro)
c.8197G>C (p.Ala2733Pro)
c.8128G>C (p.Ala2710Pro)
c.2914G>C (p.Ala972Pro)
c.8764G>C (p.Ala2922Pro)
c.8644G>C (p.Ala2882Pro)
c.8575G>C (p.Ala2859Pro)
c.6979G>C (p.Ala2327Pro)
c.*1443G>C (n.*1443G>C)
n.9115G>C
6g.51753312C>TCA364427094PKHD1c.8839G>A (p.Ala2947Thr)
c.8710G>A (p.Ala2904Thr)
c.8701G>A (p.Ala2901Thr)
c.8197G>A (p.Ala2733Thr)
c.8128G>A (p.Ala2710Thr)
c.2914G>A (p.Ala972Thr)
c.8764G>A (p.Ala2922Thr)
c.8644G>A (p.Ala2882Thr)
c.8575G>A (p.Ala2859Thr)
c.6979G>A (p.Ala2327Thr)
c.*1443G>A (n.*1443G>A)
n.9115G>A
6g.51753313C>ACA364427097PKHD1c.8838G>T (p.Leu2946Phe)
c.8709G>T (p.Leu2903Phe)
c.8700G>T (p.Leu2900Phe)
c.8196G>T (p.Leu2732Phe)
c.8127G>T (p.Leu2709Phe)
c.2913G>T (p.Leu971Phe)
c.8763G>T (p.Leu2921Phe)
c.8643G>T (p.Leu2881Phe)
c.8574G>T (p.Leu2858Phe)
c.6978G>T (p.Leu2326Phe)
c.*1442G>T (n.*1442G>T)
n.9114G>T
6g.51753313C>GCA364427099PKHD1c.8838G>C (p.Leu2946Phe)
c.8709G>C (p.Leu2903Phe)
c.8700G>C (p.Leu2900Phe)
c.8196G>C (p.Leu2732Phe)
c.8127G>C (p.Leu2709Phe)
c.2913G>C (p.Leu971Phe)
c.8763G>C (p.Leu2921Phe)
c.8643G>C (p.Leu2881Phe)
c.8574G>C (p.Leu2858Phe)
c.6978G>C (p.Leu2326Phe)
c.*1442G>C (n.*1442G>C)
n.9114G>C
6g.51753313C>TCA450412689PKHD1c.8838G>A (p.Leu2946=)
c.8709G>A (p.Leu2903=)
c.8700G>A (p.Leu2900=)
c.8196G>A (p.Leu2732=)
c.8127G>A (p.Leu2709=)
c.2913G>A (p.Leu971=)
c.8763G>A (p.Leu2921=)
c.8643G>A (p.Leu2881=)
c.8574G>A (p.Leu2858=)
c.6978G>A (p.Leu2326=)
c.*1442G>A (n.*1442G>A)
n.9114G>A
 dbSNP
6g.51753314A=CA1628510160PKHD1c.8837T= (p.Leu2946=)
c.8708T= (p.Leu2903=)
c.8699T= (p.Leu2900=)
c.8195T= (p.Leu2732=)
c.8126T= (p.Leu2709=)
c.2912T= (p.Leu971=)
c.8762T= (p.Leu2921=)
c.8642T= (p.Leu2881=)
c.8573T= (p.Leu2858=)
c.6977T= (p.Leu2326=)
c.*1441T= (n.*1441T=)
n.9113T=
6g.51753314A>CCA364427102PKHD1c.8837T>G (p.Leu2946Trp)
c.8708T>G (p.Leu2903Trp)
c.8699T>G (p.Leu2900Trp)
c.8195T>G (p.Leu2732Trp)
c.8126T>G (p.Leu2709Trp)
c.2912T>G (p.Leu971Trp)
c.8762T>G (p.Leu2921Trp)
c.8642T>G (p.Leu2881Trp)
c.8573T>G (p.Leu2858Trp)
c.6977T>G (p.Leu2326Trp)
c.*1441T>G (n.*1441T>G)
n.9113T>G
6g.51753314A>GCA364427104PKHD1c.8837T>C (p.Leu2946Ser)
c.8708T>C (p.Leu2903Ser)
c.8699T>C (p.Leu2900Ser)
c.8195T>C (p.Leu2732Ser)
c.8126T>C (p.Leu2709Ser)
c.2912T>C (p.Leu971Ser)
c.8762T>C (p.Leu2921Ser)
c.8642T>C (p.Leu2881Ser)
c.8573T>C (p.Leu2858Ser)
c.6977T>C (p.Leu2326Ser)
c.*1441T>C (n.*1441T>C)
n.9113T>C
 ClinVar dbSNP gnomAD v4
6g.51753314A>TCA364427106PKHD1c.8837T>A (p.Leu2946Ter)
c.8708T>A (p.Leu2903Ter)
c.8699T>A (p.Leu2900Ter)
c.8195T>A (p.Leu2732Ter)
c.8126T>A (p.Leu2709Ter)
c.2912T>A (p.Leu971Ter)
c.8762T>A (p.Leu2921Ter)
c.8642T>A (p.Leu2881Ter)
c.8573T>A (p.Leu2858Ter)
c.6977T>A (p.Leu2326Ter)
c.*1441T>A (n.*1441T>A)
n.9113T>A
6g.51753316delCA2679078818PKHD1c.8837del (p.Leu2946TrpfsTer8)
c.8708del (p.Leu2903TrpfsTer8)
c.8699del (p.Leu2900TrpfsTer8)
c.8195del (p.Leu2732TrpfsTer8)
c.8126del (p.Leu2709TrpfsTer8)
c.2912del (p.Leu971TrpfsTer8)
c.8762del (p.Leu2921TrpfsTer8)
c.8642del (p.Leu2881TrpfsTer8)
c.8573del (p.Leu2858TrpfsTer8)
c.6977del (p.Leu2326TrpfsTer8)
c.*1441del (n.*1441del)
n.9113del
 ClinVar gnomAD v4
6g.51753315A>CCA364427109PKHD1c.8836T>G (p.Leu2946Val)
c.8707T>G (p.Leu2903Val)
c.8698T>G (p.Leu2900Val)
c.8194T>G (p.Leu2732Val)
c.8125T>G (p.Leu2709Val)
c.2911T>G (p.Leu971Val)
c.8761T>G (p.Leu2921Val)
c.8641T>G (p.Leu2881Val)
c.8572T>G (p.Leu2858Val)
c.6976T>G (p.Leu2326Val)
c.*1440T>G (n.*1440T>G)
n.9112T>G
6g.51753315A>GCA450412690PKHD1c.8836T>C (p.Leu2946=)
c.8707T>C (p.Leu2903=)
c.8698T>C (p.Leu2900=)
c.8194T>C (p.Leu2732=)
c.8125T>C (p.Leu2709=)
c.2911T>C (p.Leu971=)
c.8761T>C (p.Leu2921=)
c.8641T>C (p.Leu2881=)
c.8572T>C (p.Leu2858=)
c.6976T>C (p.Leu2326=)
c.*1440T>C (n.*1440T>C)
n.9112T>C
6g.51753315A>TCA364427111PKHD1c.8836T>A (p.Leu2946Met)
c.8707T>A (p.Leu2903Met)
c.8698T>A (p.Leu2900Met)
c.8194T>A (p.Leu2732Met)
c.8125T>A (p.Leu2709Met)
c.2911T>A (p.Leu971Met)
c.8761T>A (p.Leu2921Met)
c.8641T>A (p.Leu2881Met)
c.8572T>A (p.Leu2858Met)
c.6976T>A (p.Leu2326Met)
c.*1440T>A (n.*1440T>A)
n.9112T>A
6g.51753316A>CCA450412691PKHD1c.8835T>G (p.Arg2945=)
c.8706T>G (p.Arg2902=)
c.8697T>G (p.Arg2899=)
c.8193T>G (p.Arg2731=)
c.8124T>G (p.Arg2708=)
c.2910T>G (p.Arg970=)
c.8760T>G (p.Arg2920=)
c.8640T>G (p.Arg2880=)
c.8571T>G (p.Arg2857=)
c.6975T>G (p.Arg2325=)
c.*1439T>G (n.*1439T>G)
n.9111T>G
 ClinVar
6g.51753316A>GCA450412693PKHD1c.8835T>C (p.Arg2945=)
c.8706T>C (p.Arg2902=)
c.8697T>C (p.Arg2899=)
c.8193T>C (p.Arg2731=)
c.8124T>C (p.Arg2708=)
c.2910T>C (p.Arg970=)
c.8760T>C (p.Arg2920=)
c.8640T>C (p.Arg2880=)
c.8571T>C (p.Arg2857=)
c.6975T>C (p.Arg2325=)
c.*1439T>C (n.*1439T>C)
n.9111T>C
6g.51753316A>TCA450412695PKHD1c.8835T>A (p.Arg2945=)
c.8706T>A (p.Arg2902=)
c.8697T>A (p.Arg2899=)
c.8193T>A (p.Arg2731=)
c.8124T>A (p.Arg2708=)
c.2910T>A (p.Arg970=)
c.8760T>A (p.Arg2920=)
c.8640T>A (p.Arg2880=)
c.8571T>A (p.Arg2857=)
c.6975T>A (p.Arg2325=)
c.*1439T>A (n.*1439T>A)
n.9111T>A
6g.51753317C>ACA364427119PKHD1c.8834G>T (p.Arg2945Leu)
c.8705G>T (p.Arg2902Leu)
c.8696G>T (p.Arg2899Leu)
c.8192G>T (p.Arg2731Leu)
c.8123G>T (p.Arg2708Leu)
c.2909G>T (p.Arg970Leu)
c.8759G>T (p.Arg2920Leu)
c.8639G>T (p.Arg2880Leu)
c.8570G>T (p.Arg2857Leu)
c.6974G>T (p.Arg2325Leu)
c.*1438G>T (n.*1438G>T)
n.9110G>T
6g.51753317C=CA1628510170PKHD1c.8834G= (p.Arg2945=)
c.8705G= (p.Arg2902=)
c.8696G= (p.Arg2899=)
c.8192G= (p.Arg2731=)
c.8123G= (p.Arg2708=)
c.2909G= (p.Arg970=)
c.8759G= (p.Arg2920=)
c.8639G= (p.Arg2880=)
c.8570G= (p.Arg2857=)
c.6974G= (p.Arg2325=)
c.*1438G= (n.*1438G=)
n.9110G=
6g.51753317C>GCA364427117PKHD1c.8834G>C (p.Arg2945Pro)
c.8705G>C (p.Arg2902Pro)
c.8696G>C (p.Arg2899Pro)
c.8192G>C (p.Arg2731Pro)
c.8123G>C (p.Arg2708Pro)
c.2909G>C (p.Arg970Pro)
c.8759G>C (p.Arg2920Pro)
c.8639G>C (p.Arg2880Pro)
c.8570G>C (p.Arg2857Pro)
c.6974G>C (p.Arg2325Pro)
c.*1438G>C (n.*1438G>C)
n.9110G>C
6g.51753317C>TCA364427114PKHD1c.8834G>A (p.Arg2945His)
c.8705G>A (p.Arg2902His)
c.8696G>A (p.Arg2899His)
c.8192G>A (p.Arg2731His)
c.8123G>A (p.Arg2708His)
c.2909G>A (p.Arg970His)
c.8759G>A (p.Arg2920His)
c.8639G>A (p.Arg2880His)
c.8570G>A (p.Arg2857His)
c.6974G>A (p.Arg2325His)
c.*1438G>A (n.*1438G>A)
n.9110G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.51753318G>ACA3851507PKHD1c.8833C>T (p.Arg2945Cys)
c.8704C>T (p.Arg2902Cys)
c.8695C>T (p.Arg2899Cys)
c.8191C>T (p.Arg2731Cys)
c.8122C>T (p.Arg2708Cys)
c.2908C>T (p.Arg970Cys)
c.8758C>T (p.Arg2920Cys)
c.8638C>T (p.Arg2880Cys)
c.8569C>T (p.Arg2857Cys)
c.6973C>T (p.Arg2325Cys)
c.*1437C>T (n.*1437C>T)
n.9109C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.51753318G>CCA364427122PKHD1c.8833C>G (p.Arg2945Gly)
c.8704C>G (p.Arg2902Gly)
c.8695C>G (p.Arg2899Gly)
c.8191C>G (p.Arg2731Gly)
c.8122C>G (p.Arg2708Gly)
c.2908C>G (p.Arg970Gly)
c.8758C>G (p.Arg2920Gly)
c.8638C>G (p.Arg2880Gly)
c.8569C>G (p.Arg2857Gly)
c.6973C>G (p.Arg2325Gly)
c.*1437C>G (n.*1437C>G)
n.9109C>G
6g.51753318G=CA1628510177PKHD1c.8833C= (p.Arg2945=)
c.8704C= (p.Arg2902=)
c.8695C= (p.Arg2899=)
c.8191C= (p.Arg2731=)
c.8122C= (p.Arg2708=)
c.2908C= (p.Arg970=)
c.8758C= (p.Arg2920=)
c.8638C= (p.Arg2880=)
c.8569C= (p.Arg2857=)
c.6973C= (p.Arg2325=)
c.*1437C= (n.*1437C=)
n.9109C=
6g.51753318G>TCA364427124PKHD1c.8833C>A (p.Arg2945Ser)
c.8704C>A (p.Arg2902Ser)
c.8695C>A (p.Arg2899Ser)
c.8191C>A (p.Arg2731Ser)
c.8122C>A (p.Arg2708Ser)
c.2908C>A (p.Arg970Ser)
c.8758C>A (p.Arg2920Ser)
c.8638C>A (p.Arg2880Ser)
c.8569C>A (p.Arg2857Ser)
c.6973C>A (p.Arg2325Ser)
c.*1437C>A (n.*1437C>A)
n.9109C>A
 dbSNP
6g.51753318_51753319delinsGACA1628510180PKHD1c.8832_8833delinsTC (p.Ile2944=)
c.8703_8704delinsTC (p.Ile2901=)
c.8694_8695delinsTC (p.Ile2898=)
c.8190_8191delinsTC (p.Ile2730=)
c.8121_8122delinsTC (p.Ile2707=)
c.2907_2908delinsTC (p.Ile969=)
c.8757_8758delinsTC (p.Ile2919=)
c.8637_8638delinsTC (p.Ile2879=)
c.8568_8569delinsTC (p.Ile2856=)
c.6972_6973delinsTC (p.Ile2324=)
c.*1436_*1437delinsTC (n.*1436_*1437delinsTC)
n.9108_9109delinsTC
6g.51753319A>CCA364427126PKHD1c.8832T>G (p.Ile2944Met)
c.8703T>G (p.Ile2901Met)
c.8694T>G (p.Ile2898Met)
c.8190T>G (p.Ile2730Met)
c.8121T>G (p.Ile2707Met)
c.2907T>G (p.Ile969Met)
c.8757T>G (p.Ile2919Met)
c.8637T>G (p.Ile2879Met)
c.8568T>G (p.Ile2856Met)
c.6972T>G (p.Ile2324Met)
c.*1436T>G (n.*1436T>G)
n.9108T>G
6g.51753319A>GCA450412699PKHD1c.8832T>C (p.Ile2944=)
c.8703T>C (p.Ile2901=)
c.8694T>C (p.Ile2898=)
c.8190T>C (p.Ile2730=)
c.8121T>C (p.Ile2707=)
c.2907T>C (p.Ile969=)
c.8757T>C (p.Ile2919=)
c.8637T>C (p.Ile2879=)
c.8568T>C (p.Ile2856=)
c.6972T>C (p.Ile2324=)
c.*1436T>C (n.*1436T>C)
n.9108T>C
6g.51753319A>TCA450412698PKHD1c.8832T>A (p.Ile2944=)
c.8703T>A (p.Ile2901=)
c.8694T>A (p.Ile2898=)
c.8190T>A (p.Ile2730=)
c.8121T>A (p.Ile2707=)
c.2907T>A (p.Ile969=)
c.8757T>A (p.Ile2919=)
c.8637T>A (p.Ile2879=)
c.8568T>A (p.Ile2856=)
c.6972T>A (p.Ile2324=)
c.*1436T>A (n.*1436T>A)
n.9108T>A
 ClinVar
6g.51753320delCA16041035PKHD1c.8832del (p.Arg2945ValfsTer9)
c.8703del (p.Arg2902ValfsTer9)
c.8694del (p.Arg2899ValfsTer9)
c.8190del (p.Arg2731ValfsTer9)
c.8121del (p.Arg2708ValfsTer9)
c.2907del (p.Arg970ValfsTer9)
c.8757del (p.Arg2920ValfsTer9)
c.8637del (p.Arg2880ValfsTer9)
c.8568del (p.Arg2857ValfsTer9)
c.6972del (p.Arg2325ValfsTer9)
c.*1436del (n.*1436del)
n.9108del
 ClinVar dbSNP
6g.51753320A>CCA364427131PKHD1c.8831T>G (p.Ile2944Ser)
c.8702T>G (p.Ile2901Ser)
c.8693T>G (p.Ile2898Ser)
c.8189T>G (p.Ile2730Ser)
c.8120T>G (p.Ile2707Ser)
c.2906T>G (p.Ile969Ser)
c.8756T>G (p.Ile2919Ser)
c.8636T>G (p.Ile2879Ser)
c.8567T>G (p.Ile2856Ser)
c.6971T>G (p.Ile2324Ser)
c.*1435T>G (n.*1435T>G)
n.9107T>G
6g.51753320A>GCA364427132PKHD1c.8831T>C (p.Ile2944Thr)
c.8702T>C (p.Ile2901Thr)
c.8693T>C (p.Ile2898Thr)
c.8189T>C (p.Ile2730Thr)
c.8120T>C (p.Ile2707Thr)
c.2906T>C (p.Ile969Thr)
c.8756T>C (p.Ile2919Thr)
c.8636T>C (p.Ile2879Thr)
c.8567T>C (p.Ile2856Thr)
c.6971T>C (p.Ile2324Thr)
c.*1435T>C (n.*1435T>C)
n.9107T>C
6g.51753320A>TCA364427133PKHD1c.8831T>A (p.Ile2944Asn)
c.8702T>A (p.Ile2901Asn)
c.8693T>A (p.Ile2898Asn)
c.8189T>A (p.Ile2730Asn)
c.8120T>A (p.Ile2707Asn)
c.2906T>A (p.Ile969Asn)
c.8756T>A (p.Ile2919Asn)
c.8636T>A (p.Ile2879Asn)
c.8567T>A (p.Ile2856Asn)
c.6971T>A (p.Ile2324Asn)
c.*1435T>A (n.*1435T>A)
n.9107T>A
6g.51753321T>ACA138898953PKHD1c.8830A>T (p.Ile2944Phe)
c.8701A>T (p.Ile2901Phe)
c.8692A>T (p.Ile2898Phe)
c.8188A>T (p.Ile2730Phe)
c.8119A>T (p.Ile2707Phe)
c.2905A>T (p.Ile969Phe)
c.8755A>T (p.Ile2919Phe)
c.8635A>T (p.Ile2879Phe)
c.8566A>T (p.Ile2856Phe)
c.6970A>T (p.Ile2324Phe)
c.*1434A>T (n.*1434A>T)
n.9106A>T
 dbSNP
6g.51753321T>CCA3851508PKHD1c.8830A>G (p.Ile2944Val)
c.8701A>G (p.Ile2901Val)
c.8692A>G (p.Ile2898Val)
c.8188A>G (p.Ile2730Val)
c.8119A>G (p.Ile2707Val)
c.2905A>G (p.Ile969Val)
c.8755A>G (p.Ile2919Val)
c.8635A>G (p.Ile2879Val)
c.8566A>G (p.Ile2856Val)
c.6970A>G (p.Ile2324Val)
c.*1434A>G (n.*1434A>G)
n.9106A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51753321T>GCA364427143PKHD1c.8830A>C (p.Ile2944Leu)
c.8701A>C (p.Ile2901Leu)
c.8692A>C (p.Ile2898Leu)
c.8188A>C (p.Ile2730Leu)
c.8119A>C (p.Ile2707Leu)
c.2905A>C (p.Ile969Leu)
c.8755A>C (p.Ile2919Leu)
c.8635A>C (p.Ile2879Leu)
c.8566A>C (p.Ile2856Leu)
c.6970A>C (p.Ile2324Leu)
c.*1434A>C (n.*1434A>C)
n.9106A>C
 dbSNP
6g.51753321T=CA1628510191PKHD1c.8830A= (p.Ile2944=)
c.8701A= (p.Ile2901=)
c.8692A= (p.Ile2898=)
c.8188A= (p.Ile2730=)
c.8119A= (p.Ile2707=)
c.2905A= (p.Ile969=)
c.8755A= (p.Ile2919=)
c.8635A= (p.Ile2879=)
c.8566A= (p.Ile2856=)
c.6970A= (p.Ile2324=)
c.*1434A= (n.*1434A=)
n.9106A=
6g.51753322G>ACA450412703PKHD1c.8829C>T (p.His2943=)
c.8700C>T (p.His2900=)
c.8691C>T (p.His2897=)
c.8187C>T (p.His2729=)
c.8118C>T (p.His2706=)
c.2904C>T (p.His968=)
c.8754C>T (p.His2918=)
c.8634C>T (p.His2878=)
c.8565C>T (p.His2855=)
c.6969C>T (p.His2323=)
c.*1433C>T (n.*1433C>T)
n.9105C>T
6g.51753322G>CCA364427145PKHD1c.8829C>G (p.His2943Gln)
c.8700C>G (p.His2900Gln)
c.8691C>G (p.His2897Gln)
c.8187C>G (p.His2729Gln)
c.8118C>G (p.His2706Gln)
c.2904C>G (p.His968Gln)
c.8754C>G (p.His2918Gln)
c.8634C>G (p.His2878Gln)
c.8565C>G (p.His2855Gln)
c.6969C>G (p.His2323Gln)
c.*1433C>G (n.*1433C>G)
n.9105C>G
6g.51753322G>TCA364427147PKHD1c.8829C>A (p.His2943Gln)
c.8700C>A (p.His2900Gln)
c.8691C>A (p.His2897Gln)
c.8187C>A (p.His2729Gln)
c.8118C>A (p.His2706Gln)
c.2904C>A (p.His968Gln)
c.8754C>A (p.His2918Gln)
c.8634C>A (p.His2878Gln)
c.8565C>A (p.His2855Gln)
c.6969C>A (p.His2323Gln)
c.*1433C>A (n.*1433C>A)
n.9105C>A
6g.51753322dupCA2573052706PKHD1c.8829dup (p.Ile2944HisfsTer6)
c.8700dup (p.Ile2901HisfsTer6)
c.8691dup (p.Ile2898HisfsTer6)
c.8187dup (p.Ile2730HisfsTer6)
c.8118dup (p.Ile2707HisfsTer6)
c.2904dup (p.Ile969HisfsTer6)
c.8754dup (p.Ile2919HisfsTer6)
c.8634dup (p.Ile2879HisfsTer6)
c.8565dup (p.Ile2856HisfsTer6)
c.6969dup (p.Ile2324HisfsTer6)
c.*1433dup (n.*1433dup)
n.9105dup
 ClinVar dbSNP gnomAD v4
6g.51753323T>ACA364427152PKHD1c.8828A>T (p.His2943Leu)
c.8699A>T (p.His2900Leu)
c.8690A>T (p.His2897Leu)
c.8186A>T (p.His2729Leu)
c.8117A>T (p.His2706Leu)
c.2903A>T (p.His968Leu)
c.8753A>T (p.His2918Leu)
c.8633A>T (p.His2878Leu)
c.8564A>T (p.His2855Leu)
c.6968A>T (p.His2323Leu)
c.*1432A>T (n.*1432A>T)
n.9104A>T
6g.51753323T>CCA364427148PKHD1c.8828A>G (p.His2943Arg)
c.8699A>G (p.His2900Arg)
c.8690A>G (p.His2897Arg)
c.8186A>G (p.His2729Arg)
c.8117A>G (p.His2706Arg)
c.2903A>G (p.His968Arg)
c.8753A>G (p.His2918Arg)
c.8633A>G (p.His2878Arg)
c.8564A>G (p.His2855Arg)
c.6968A>G (p.His2323Arg)
c.*1432A>G (n.*1432A>G)
n.9104A>G
6g.51753323T>GCA364427151PKHD1c.8828A>C (p.His2943Pro)
c.8699A>C (p.His2900Pro)
c.8690A>C (p.His2897Pro)
c.8186A>C (p.His2729Pro)
c.8117A>C (p.His2706Pro)
c.2903A>C (p.His968Pro)
c.8753A>C (p.His2918Pro)
c.8633A>C (p.His2878Pro)
c.8564A>C (p.His2855Pro)
c.6968A>C (p.His2323Pro)
c.*1432A>C (n.*1432A>C)
n.9104A>C
6g.51753324G>ACA364427153PKHD1c.8827C>T (p.His2943Tyr)
c.8698C>T (p.His2900Tyr)
c.8689C>T (p.His2897Tyr)
c.8185C>T (p.His2729Tyr)
c.8116C>T (p.His2706Tyr)
c.2902C>T (p.His968Tyr)
c.8752C>T (p.His2918Tyr)
c.8632C>T (p.His2878Tyr)
c.8563C>T (p.His2855Tyr)
c.6967C>T (p.His2323Tyr)
c.*1431C>T (n.*1431C>T)
n.9103C>T
6g.51753324G>CCA364427155PKHD1c.8827C>G (p.His2943Asp)
c.8698C>G (p.His2900Asp)
c.8689C>G (p.His2897Asp)
c.8185C>G (p.His2729Asp)
c.8116C>G (p.His2706Asp)
c.2902C>G (p.His968Asp)
c.8752C>G (p.His2918Asp)
c.8632C>G (p.His2878Asp)
c.8563C>G (p.His2855Asp)
c.6967C>G (p.His2323Asp)
c.*1431C>G (n.*1431C>G)
n.9103C>G
6g.51753324G>TCA364427158PKHD1c.8827C>A (p.His2943Asn)
c.8698C>A (p.His2900Asn)
c.8689C>A (p.His2897Asn)
c.8185C>A (p.His2729Asn)
c.8116C>A (p.His2706Asn)
c.2902C>A (p.His968Asn)
c.8752C>A (p.His2918Asn)
c.8632C>A (p.His2878Asn)
c.8563C>A (p.His2855Asn)
c.6967C>A (p.His2323Asn)
c.*1431C>A (n.*1431C>A)
n.9103C>A
 COSMIC COSMIC
6g.51753325T>ACA450412705PKHD1c.8826A>T (p.Arg2942=)
c.8697A>T (p.Arg2899=)
c.8688A>T (p.Arg2896=)
c.8184A>T (p.Arg2728=)
c.8115A>T (p.Arg2705=)
c.2901A>T (p.Arg967=)
c.8751A>T (p.Arg2917=)
c.8631A>T (p.Arg2877=)
c.8562A>T (p.Arg2854=)
c.6966A>T (p.Arg2322=)
c.*1430A>T (n.*1430A>T)
n.9102A>T
6g.51753325T>CCA450412706PKHD1c.8826A>G (p.Arg2942=)
c.8697A>G (p.Arg2899=)
c.8688A>G (p.Arg2896=)
c.8184A>G (p.Arg2728=)
c.8115A>G (p.Arg2705=)
c.2901A>G (p.Arg967=)
c.8751A>G (p.Arg2917=)
c.8631A>G (p.Arg2877=)
c.8562A>G (p.Arg2854=)
c.6966A>G (p.Arg2322=)
c.*1430A>G (n.*1430A>G)
n.9102A>G
 dbSNP
6g.51753325T>GCA450412707PKHD1c.8826A>C (p.Arg2942=)
c.8697A>C (p.Arg2899=)
c.8688A>C (p.Arg2896=)
c.8184A>C (p.Arg2728=)
c.8115A>C (p.Arg2705=)
c.2901A>C (p.Arg967=)
c.8751A>C (p.Arg2917=)
c.8631A>C (p.Arg2877=)
c.8562A>C (p.Arg2854=)
c.6966A>C (p.Arg2322=)
c.*1430A>C (n.*1430A>C)
n.9102A>C
6g.51753326C>ACA364427161PKHD1c.8825G>T (p.Arg2942Leu)
c.8696G>T (p.Arg2899Leu)
c.8687G>T (p.Arg2896Leu)
c.8183G>T (p.Arg2728Leu)
c.8114G>T (p.Arg2705Leu)
c.2900G>T (p.Arg967Leu)
c.8750G>T (p.Arg2917Leu)
c.8630G>T (p.Arg2877Leu)
c.8561G>T (p.Arg2854Leu)
c.6965G>T (p.Arg2322Leu)
c.*1429G>T (n.*1429G>T)
n.9101G>T
6g.51753326C=CA1628510206PKHD1c.8825G= (p.Arg2942=)
c.8696G= (p.Arg2899=)
c.8687G= (p.Arg2896=)
c.8183G= (p.Arg2728=)
c.8114G= (p.Arg2705=)
c.2900G= (p.Arg967=)
c.8750G= (p.Arg2917=)
c.8630G= (p.Arg2877=)
c.8561G= (p.Arg2854=)
c.6965G= (p.Arg2322=)
c.*1429G= (n.*1429G=)
n.9101G=
6g.51753326C>GCA364427163PKHD1c.8825G>C (p.Arg2942Pro)
c.8696G>C (p.Arg2899Pro)
c.8687G>C (p.Arg2896Pro)
c.8183G>C (p.Arg2728Pro)
c.8114G>C (p.Arg2705Pro)
c.2900G>C (p.Arg967Pro)
c.8750G>C (p.Arg2917Pro)
c.8630G>C (p.Arg2877Pro)
c.8561G>C (p.Arg2854Pro)
c.6965G>C (p.Arg2322Pro)
c.*1429G>C (n.*1429G>C)
n.9101G>C
6g.51753326C>TCA138898958PKHD1c.8825G>A (p.Arg2942Gln)
c.8696G>A (p.Arg2899Gln)
c.8687G>A (p.Arg2896Gln)
c.8183G>A (p.Arg2728Gln)
c.8114G>A (p.Arg2705Gln)
c.2900G>A (p.Arg967Gln)
c.8750G>A (p.Arg2917Gln)
c.8630G>A (p.Arg2877Gln)
c.8561G>A (p.Arg2854Gln)
c.6965G>A (p.Arg2322Gln)
c.*1429G>A (n.*1429G>A)
n.9101G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51753327G>ACA224108PKHD1c.8824C>T (p.Arg2942Ter)
c.8695C>T (p.Arg2899Ter)
c.8686C>T (p.Arg2896Ter)
c.8182C>T (p.Arg2728Ter)
c.8113C>T (p.Arg2705Ter)
c.2899C>T (p.Arg967Ter)
c.8749C>T (p.Arg2917Ter)
c.8629C>T (p.Arg2877Ter)
c.8560C>T (p.Arg2854Ter)
c.6964C>T (p.Arg2322Ter)
c.*1428C>T (n.*1428C>T)
n.9100C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.51753327G>CCA364427170PKHD1c.8824C>G (p.Arg2942Gly)
c.8695C>G (p.Arg2899Gly)
c.8686C>G (p.Arg2896Gly)
c.8182C>G (p.Arg2728Gly)
c.8113C>G (p.Arg2705Gly)
c.2899C>G (p.Arg967Gly)
c.8749C>G (p.Arg2917Gly)
c.8629C>G (p.Arg2877Gly)
c.8560C>G (p.Arg2854Gly)
c.6964C>G (p.Arg2322Gly)
c.*1428C>G (n.*1428C>G)
n.9100C>G
6g.51753327G=CA1628510213PKHD1c.8824C= (p.Arg2942=)
c.8695C= (p.Arg2899=)
c.8686C= (p.Arg2896=)
c.8182C= (p.Arg2728=)
c.8113C= (p.Arg2705=)
c.2899C= (p.Arg967=)
c.8749C= (p.Arg2917=)
c.8629C= (p.Arg2877=)
c.8560C= (p.Arg2854=)
c.6964C= (p.Arg2322=)
c.*1428C= (n.*1428C=)
n.9100C=
6g.51753327G>TCA450412708PKHD1c.8824C>A (p.Arg2942=)
c.8695C>A (p.Arg2899=)
c.8686C>A (p.Arg2896=)
c.8182C>A (p.Arg2728=)
c.8113C>A (p.Arg2705=)
c.2899C>A (p.Arg967=)
c.8749C>A (p.Arg2917=)
c.8629C>A (p.Arg2877=)
c.8560C>A (p.Arg2854=)
c.6964C>A (p.Arg2322=)
c.*1428C>A (n.*1428C>A)
n.9100C>A
6g.51753328G>ACA450412710PKHD1c.8823C>T (p.Gly2941=)
c.8694C>T (p.Gly2898=)
c.8685C>T (p.Gly2895=)
c.8181C>T (p.Gly2727=)
c.8112C>T (p.Gly2704=)
c.2898C>T (p.Gly966=)
c.8748C>T (p.Gly2916=)
c.8628C>T (p.Gly2876=)
c.8559C>T (p.Gly2853=)
c.6963C>T (p.Gly2321=)
c.*1427C>T (n.*1427C>T)
n.9099C>T
 gnomAD v4
6g.51753328G>CCA3851509PKHD1c.8823C>G (p.Gly2941=)
c.8694C>G (p.Gly2898=)
c.8685C>G (p.Gly2895=)
c.8181C>G (p.Gly2727=)
c.8112C>G (p.Gly2704=)
c.2898C>G (p.Gly966=)
c.8748C>G (p.Gly2916=)
c.8628C>G (p.Gly2876=)
c.8559C>G (p.Gly2853=)
c.6963C>G (p.Gly2321=)
c.*1427C>G (n.*1427C>G)
n.9099C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51753328G=CA1628510231PKHD1c.8823C= (p.Gly2941=)
c.8694C= (p.Gly2898=)
c.8685C= (p.Gly2895=)
c.8181C= (p.Gly2727=)
c.8112C= (p.Gly2704=)
c.2898C= (p.Gly966=)
c.8748C= (p.Gly2916=)
c.8628C= (p.Gly2876=)
c.8559C= (p.Gly2853=)
c.6963C= (p.Gly2321=)
c.*1427C= (n.*1427C=)
n.9099C=
6g.51753328G>TCA450412711PKHD1c.8823C>A (p.Gly2941=)
c.8694C>A (p.Gly2898=)
c.8685C>A (p.Gly2895=)
c.8181C>A (p.Gly2727=)
c.8112C>A (p.Gly2704=)
c.2898C>A (p.Gly966=)
c.8748C>A (p.Gly2916=)
c.8628C>A (p.Gly2876=)
c.8559C>A (p.Gly2853=)
c.6963C>A (p.Gly2321=)
c.*1427C>A (n.*1427C>A)
n.9099C>A
6g.51753329C>ACA364427174PKHD1c.8822G>T (p.Gly2941Val)
c.8693G>T (p.Gly2898Val)
c.8684G>T (p.Gly2895Val)
c.8180G>T (p.Gly2727Val)
c.8111G>T (p.Gly2704Val)
c.2897G>T (p.Gly966Val)
c.8747G>T (p.Gly2916Val)
c.8627G>T (p.Gly2876Val)
c.8558G>T (p.Gly2853Val)
c.6962G>T (p.Gly2321Val)
c.*1426G>T (n.*1426G>T)
n.9098G>T
6g.51753329C>GCA364427176PKHD1c.8822G>C (p.Gly2941Ala)
c.8693G>C (p.Gly2898Ala)
c.8684G>C (p.Gly2895Ala)
c.8180G>C (p.Gly2727Ala)
c.8111G>C (p.Gly2704Ala)
c.2897G>C (p.Gly966Ala)
c.8747G>C (p.Gly2916Ala)
c.8627G>C (p.Gly2876Ala)
c.8558G>C (p.Gly2853Ala)
c.6962G>C (p.Gly2321Ala)
c.*1426G>C (n.*1426G>C)
n.9098G>C
6g.51753329C>TCA364427179PKHD1c.8822G>A (p.Gly2941Asp)
c.8693G>A (p.Gly2898Asp)
c.8684G>A (p.Gly2895Asp)
c.8180G>A (p.Gly2727Asp)
c.8111G>A (p.Gly2704Asp)
c.2897G>A (p.Gly966Asp)
c.8747G>A (p.Gly2916Asp)
c.8627G>A (p.Gly2876Asp)
c.8558G>A (p.Gly2853Asp)
c.6962G>A (p.Gly2321Asp)
c.*1426G>A (n.*1426G>A)
n.9098G>A
6g.51753330C>ACA364427185PKHD1c.8821G>T (p.Gly2941Cys)
c.8692G>T (p.Gly2898Cys)
c.8683G>T (p.Gly2895Cys)
c.8179G>T (p.Gly2727Cys)
c.8110G>T (p.Gly2704Cys)
c.2896G>T (p.Gly966Cys)
c.8746G>T (p.Gly2916Cys)
c.8626G>T (p.Gly2876Cys)
c.8557G>T (p.Gly2853Cys)
c.6961G>T (p.Gly2321Cys)
c.*1425G>T (n.*1425G>T)
n.9097G>T
6g.51753330C=CA1628510234PKHD1c.8821G= (p.Gly2941=)
c.8692G= (p.Gly2898=)
c.8683G= (p.Gly2895=)
c.8179G= (p.Gly2727=)
c.8110G= (p.Gly2704=)
c.2896G= (p.Gly966=)
c.8746G= (p.Gly2916=)
c.8626G= (p.Gly2876=)
c.8557G= (p.Gly2853=)
c.6961G= (p.Gly2321=)
c.*1425G= (n.*1425G=)
n.9097G=
6g.51753330C>GCA364427187PKHD1c.8821G>C (p.Gly2941Arg)
c.8692G>C (p.Gly2898Arg)
c.8683G>C (p.Gly2895Arg)
c.8179G>C (p.Gly2727Arg)
c.8110G>C (p.Gly2704Arg)
c.2896G>C (p.Gly966Arg)
c.8746G>C (p.Gly2916Arg)
c.8626G>C (p.Gly2876Arg)
c.8557G>C (p.Gly2853Arg)
c.6961G>C (p.Gly2321Arg)
c.*1425G>C (n.*1425G>C)
n.9097G>C
6g.51753330C>TCA364427183PKHD1c.8821G>A (p.Gly2941Ser)
c.8692G>A (p.Gly2898Ser)
c.8683G>A (p.Gly2895Ser)
c.8179G>A (p.Gly2727Ser)
c.8110G>A (p.Gly2704Ser)
c.2896G>A (p.Gly966Ser)
c.8746G>A (p.Gly2916Ser)
c.8626G>A (p.Gly2876Ser)
c.8557G>A (p.Gly2853Ser)
c.6961G>A (p.Gly2321Ser)
c.*1425G>A (n.*1425G>A)
n.9097G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.51753331A=CA1628510238PKHD1c.8820T= (p.Asp2940=)
c.8691T= (p.Asp2897=)
c.8682T= (p.Asp2894=)
c.8178T= (p.Asp2726=)
c.8109T= (p.Asp2703=)
c.2895T= (p.Asp965=)
c.8745T= (p.Asp2915=)
c.8625T= (p.Asp2875=)
c.8556T= (p.Asp2852=)
c.6960T= (p.Asp2320=)
c.*1424T= (n.*1424T=)
n.9096T=
6g.51753331A>CCA364427193PKHD1c.8820T>G (p.Asp2940Glu)
c.8691T>G (p.Asp2897Glu)
c.8682T>G (p.Asp2894Glu)
c.8178T>G (p.Asp2726Glu)
c.8109T>G (p.Asp2703Glu)
c.2895T>G (p.Asp965Glu)
c.8745T>G (p.Asp2915Glu)
c.8625T>G (p.Asp2875Glu)
c.8556T>G (p.Asp2852Glu)
c.6960T>G (p.Asp2320Glu)
c.*1424T>G (n.*1424T>G)
n.9096T>G
6g.51753331A>GCA3851510PKHD1c.8820T>C (p.Asp2940=)
c.8691T>C (p.Asp2897=)
c.8682T>C (p.Asp2894=)
c.8178T>C (p.Asp2726=)
c.8109T>C (p.Asp2703=)
c.2895T>C (p.Asp965=)
c.8745T>C (p.Asp2915=)
c.8625T>C (p.Asp2875=)
c.8556T>C (p.Asp2852=)
c.6960T>C (p.Asp2320=)
c.*1424T>C (n.*1424T>C)
n.9096T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51753331A>TCA364427191PKHD1c.8820T>A (p.Asp2940Glu)
c.8691T>A (p.Asp2897Glu)
c.8682T>A (p.Asp2894Glu)
c.8178T>A (p.Asp2726Glu)
c.8109T>A (p.Asp2703Glu)
c.2895T>A (p.Asp965Glu)
c.8745T>A (p.Asp2915Glu)
c.8625T>A (p.Asp2875Glu)
c.8556T>A (p.Asp2852Glu)
c.6960T>A (p.Asp2320Glu)
c.*1424T>A (n.*1424T>A)
n.9096T>A
6g.51753332T>ACA364427197PKHD1c.8819A>T (p.Asp2940Val)
c.8690A>T (p.Asp2897Val)
c.8681A>T (p.Asp2894Val)
c.8177A>T (p.Asp2726Val)
c.8108A>T (p.Asp2703Val)
c.2894A>T (p.Asp965Val)
c.8744A>T (p.Asp2915Val)
c.8624A>T (p.Asp2875Val)
c.8555A>T (p.Asp2852Val)
c.6959A>T (p.Asp2320Val)
c.*1423A>T (n.*1423A>T)
n.9095A>T
6g.51753332T>CCA364427199PKHD1c.8819A>G (p.Asp2940Gly)
c.8690A>G (p.Asp2897Gly)
c.8681A>G (p.Asp2894Gly)
c.8177A>G (p.Asp2726Gly)
c.8108A>G (p.Asp2703Gly)
c.2894A>G (p.Asp965Gly)
c.8744A>G (p.Asp2915Gly)
c.8624A>G (p.Asp2875Gly)
c.8555A>G (p.Asp2852Gly)
c.6959A>G (p.Asp2320Gly)
c.*1423A>G (n.*1423A>G)
n.9095A>G
6g.51753332T>GCA364427202PKHD1c.8819A>C (p.Asp2940Ala)
c.8690A>C (p.Asp2897Ala)
c.8681A>C (p.Asp2894Ala)
c.8177A>C (p.Asp2726Ala)
c.8108A>C (p.Asp2703Ala)
c.2894A>C (p.Asp965Ala)
c.8744A>C (p.Asp2915Ala)
c.8624A>C (p.Asp2875Ala)
c.8555A>C (p.Asp2852Ala)
c.6959A>C (p.Asp2320Ala)
c.*1423A>C (n.*1423A>C)
n.9095A>C
6g.51753333C>ACA3851511PKHD1c.8818G>T (p.Asp2940Tyr)
c.8689G>T (p.Asp2897Tyr)
c.8680G>T (p.Asp2894Tyr)
c.8176G>T (p.Asp2726Tyr)
c.8107G>T (p.Asp2703Tyr)
c.2893G>T (p.Asp965Tyr)
c.8743G>T (p.Asp2915Tyr)
c.8623G>T (p.Asp2875Tyr)
c.8554G>T (p.Asp2852Tyr)
c.6958G>T (p.Asp2320Tyr)
c.*1422G>T (n.*1422G>T)
n.9094G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51753333C=CA1628510241PKHD1c.8818G= (p.Asp2940=)
c.8689G= (p.Asp2897=)
c.8680G= (p.Asp2894=)
c.8176G= (p.Asp2726=)
c.8107G= (p.Asp2703=)
c.2893G= (p.Asp965=)
c.8743G= (p.Asp2915=)
c.8623G= (p.Asp2875=)
c.8554G= (p.Asp2852=)
c.6958G= (p.Asp2320=)
c.*1422G= (n.*1422G=)
n.9094G=
6g.51753333C>GCA364427206PKHD1c.8818G>C (p.Asp2940His)
c.8689G>C (p.Asp2897His)
c.8680G>C (p.Asp2894His)
c.8176G>C (p.Asp2726His)
c.8107G>C (p.Asp2703His)
c.2893G>C (p.Asp965His)
c.8743G>C (p.Asp2915His)
c.8623G>C (p.Asp2875His)
c.8554G>C (p.Asp2852His)
c.6958G>C (p.Asp2320His)
c.*1422G>C (n.*1422G>C)
n.9094G>C
6g.51753333C>TCA364427208PKHD1c.8818G>A (p.Asp2940Asn)
c.8689G>A (p.Asp2897Asn)
c.8680G>A (p.Asp2894Asn)
c.8176G>A (p.Asp2726Asn)
c.8107G>A (p.Asp2703Asn)
c.2893G>A (p.Asp965Asn)
c.8743G>A (p.Asp2915Asn)
c.8623G>A (p.Asp2875Asn)
c.8554G>A (p.Asp2852Asn)
c.6958G>A (p.Asp2320Asn)
c.*1422G>A (n.*1422G>A)
n.9094G>A
6g.51753334C>ACA364427211PKHD1c.8817G>T (p.Glu2939Asp)
c.8688G>T (p.Glu2896Asp)
c.8679G>T (p.Glu2893Asp)
c.8175G>T (p.Glu2725Asp)
c.8106G>T (p.Glu2702Asp)
c.2892G>T (p.Glu964Asp)
c.8742G>T (p.Glu2914Asp)
c.8622G>T (p.Glu2874Asp)
c.8553G>T (p.Glu2851Asp)
c.6957G>T (p.Glu2319Asp)
c.*1421G>T (n.*1421G>T)
n.9093G>T
6g.51753334C=CA1628510246PKHD1c.8817G= (p.Glu2939=)
c.8688G= (p.Glu2896=)
c.8679G= (p.Glu2893=)
c.8175G= (p.Glu2725=)
c.8106G= (p.Glu2702=)
c.2892G= (p.Glu964=)
c.8742G= (p.Glu2914=)
c.8622G= (p.Glu2874=)
c.8553G= (p.Glu2851=)
c.6957G= (p.Glu2319=)
c.*1421G= (n.*1421G=)
n.9093G=
6g.51753334C>GCA364427213PKHD1c.8817G>C (p.Glu2939Asp)
c.8688G>C (p.Glu2896Asp)
c.8679G>C (p.Glu2893Asp)
c.8175G>C (p.Glu2725Asp)
c.8106G>C (p.Glu2702Asp)
c.2892G>C (p.Glu964Asp)
c.8742G>C (p.Glu2914Asp)
c.8622G>C (p.Glu2874Asp)
c.8553G>C (p.Glu2851Asp)
c.6957G>C (p.Glu2319Asp)
c.*1421G>C (n.*1421G>C)
n.9093G>C
 dbSNP gnomAD v2 gnomAD v4
6g.51753334C>TCA450412718PKHD1c.8817G>A (p.Glu2939=)
c.8688G>A (p.Glu2896=)
c.8679G>A (p.Glu2893=)
c.8175G>A (p.Glu2725=)
c.8106G>A (p.Glu2702=)
c.2892G>A (p.Glu964=)
c.8742G>A (p.Glu2914=)
c.8622G>A (p.Glu2874=)
c.8553G>A (p.Glu2851=)
c.6957G>A (p.Glu2319=)
c.*1421G>A (n.*1421G>A)
n.9093G>A

Number of alleles fetched