Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51753231A>CCA364426682PKHD1c.8920T>G (p.Phe2974Val)
c.8791T>G (p.Phe2931Val)
c.8782T>G (p.Phe2928Val)
c.8278T>G (p.Phe2760Val)
c.8209T>G (p.Phe2737Val)
c.2995T>G (p.Phe999Val)
c.8845T>G (p.Phe2949Val)
c.8725T>G (p.Phe2909Val)
c.8656T>G (p.Phe2886Val)
c.7060T>G (p.Phe2354Val)
n.9196T>G
6g.51753231A>GCA364426683PKHD1c.8920T>C (p.Phe2974Leu)
c.8791T>C (p.Phe2931Leu)
c.8782T>C (p.Phe2928Leu)
c.8278T>C (p.Phe2760Leu)
c.8209T>C (p.Phe2737Leu)
c.2995T>C (p.Phe999Leu)
c.8845T>C (p.Phe2949Leu)
c.8725T>C (p.Phe2909Leu)
c.8656T>C (p.Phe2886Leu)
c.7060T>C (p.Phe2354Leu)
n.9196T>C
6g.51753231A>TCA364426684PKHD1c.8920T>A (p.Phe2974Ile)
c.8791T>A (p.Phe2931Ile)
c.8782T>A (p.Phe2928Ile)
c.8278T>A (p.Phe2760Ile)
c.8209T>A (p.Phe2737Ile)
c.2995T>A (p.Phe999Ile)
c.8845T>A (p.Phe2949Ile)
c.8725T>A (p.Phe2909Ile)
c.8656T>A (p.Phe2886Ile)
c.7060T>A (p.Phe2354Ile)
n.9196T>A
 gnomAD v4
6g.51753232G>ACA450412564PKHD1c.8919C>T (p.Ser2973=)
c.8790C>T (p.Ser2930=)
c.8781C>T (p.Ser2927=)
c.8277C>T (p.Ser2759=)
c.8208C>T (p.Ser2736=)
c.2994C>T (p.Ser998=)
c.8844C>T (p.Ser2948=)
c.8724C>T (p.Ser2908=)
c.8655C>T (p.Ser2885=)
c.7059C>T (p.Ser2353=)
n.9195C>T
6g.51753232G>CCA450412566PKHD1c.8919C>G (p.Ser2973=)
c.8790C>G (p.Ser2930=)
c.8781C>G (p.Ser2927=)
c.8277C>G (p.Ser2759=)
c.8208C>G (p.Ser2736=)
c.2994C>G (p.Ser998=)
c.8844C>G (p.Ser2948=)
c.8724C>G (p.Ser2908=)
c.8655C>G (p.Ser2885=)
c.7059C>G (p.Ser2353=)
n.9195C>G
 ClinVar
6g.51753232G>TCA450412568PKHD1c.8919C>A (p.Ser2973=)
c.8790C>A (p.Ser2930=)
c.8781C>A (p.Ser2927=)
c.8277C>A (p.Ser2759=)
c.8208C>A (p.Ser2736=)
c.2994C>A (p.Ser998=)
c.8844C>A (p.Ser2948=)
c.8724C>A (p.Ser2908=)
c.8655C>A (p.Ser2885=)
c.7059C>A (p.Ser2353=)
n.9195C>A
 gnomAD v4 COSMIC COSMIC
6g.51753233G>ACA3851493PKHD1c.8918C>T (p.Ser2973Phe)
c.8789C>T (p.Ser2930Phe)
c.8780C>T (p.Ser2927Phe)
c.8276C>T (p.Ser2759Phe)
c.8207C>T (p.Ser2736Phe)
c.2993C>T (p.Ser998Phe)
c.8843C>T (p.Ser2948Phe)
c.8723C>T (p.Ser2908Phe)
c.8654C>T (p.Ser2885Phe)
c.7058C>T (p.Ser2353Phe)
n.9194C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51753233G>CCA364426692PKHD1c.8918C>G (p.Ser2973Cys)
c.8789C>G (p.Ser2930Cys)
c.8780C>G (p.Ser2927Cys)
c.8276C>G (p.Ser2759Cys)
c.8207C>G (p.Ser2736Cys)
c.2993C>G (p.Ser998Cys)
c.8843C>G (p.Ser2948Cys)
c.8723C>G (p.Ser2908Cys)
c.8654C>G (p.Ser2885Cys)
c.7058C>G (p.Ser2353Cys)
n.9194C>G
6g.51753233G=CA1628509942PKHD1c.8918C= (p.Ser2973=)
c.8789C= (p.Ser2930=)
c.8780C= (p.Ser2927=)
c.8276C= (p.Ser2759=)
c.8207C= (p.Ser2736=)
c.2993C= (p.Ser998=)
c.8843C= (p.Ser2948=)
c.8723C= (p.Ser2908=)
c.8654C= (p.Ser2885=)
c.7058C= (p.Ser2353=)
n.9194C=
6g.51753233G>TCA364426689PKHD1c.8918C>A (p.Ser2973Tyr)
c.8789C>A (p.Ser2930Tyr)
c.8780C>A (p.Ser2927Tyr)
c.8276C>A (p.Ser2759Tyr)
c.8207C>A (p.Ser2736Tyr)
c.2993C>A (p.Ser998Tyr)
c.8843C>A (p.Ser2948Tyr)
c.8723C>A (p.Ser2908Tyr)
c.8654C>A (p.Ser2885Tyr)
c.7058C>A (p.Ser2353Tyr)
n.9194C>A
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

Number of alleles fetched