Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51748201C>ACA180301PKHD1c.9415G>T (p.Asp3139Tyr)
c.9286G>T (p.Asp3096Tyr)
c.9277G>T (p.Asp3093Tyr)
c.8773G>T (p.Asp2925Tyr)
c.8704G>T (p.Asp2902Tyr)
c.3490G>T (p.Asp1164Tyr)
c.9340G>T (p.Asp3114Tyr)
c.9220G>T (p.Asp3074Tyr)
c.9151G>T (p.Asp3051Tyr)
c.7555G>T (p.Asp2519Tyr)
n.9691G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748201C=CA1628502755PKHD1c.9415G= (p.Asp3139=)
c.9286G= (p.Asp3096=)
c.9277G= (p.Asp3093=)
c.8773G= (p.Asp2925=)
c.8704G= (p.Asp2902=)
c.3490G= (p.Asp1164=)
c.9340G= (p.Asp3114=)
c.9220G= (p.Asp3074=)
c.9151G= (p.Asp3051=)
c.7555G= (p.Asp2519=)
n.9691G=
6g.51748201C>GCA364421119PKHD1c.9415G>C (p.Asp3139His)
c.9286G>C (p.Asp3096His)
c.9277G>C (p.Asp3093His)
c.8773G>C (p.Asp2925His)
c.8704G>C (p.Asp2902His)
c.3490G>C (p.Asp1164His)
c.9340G>C (p.Asp3114His)
c.9220G>C (p.Asp3074His)
c.9151G>C (p.Asp3051His)
c.7555G>C (p.Asp2519His)
n.9691G>C
 gnomAD v4
6g.51748201C>TCA364421120PKHD1c.9415G>A (p.Asp3139Asn)
c.9286G>A (p.Asp3096Asn)
c.9277G>A (p.Asp3093Asn)
c.8773G>A (p.Asp2925Asn)
c.8704G>A (p.Asp2902Asn)
c.3490G>A (p.Asp1164Asn)
c.9340G>A (p.Asp3114Asn)
c.9220G>A (p.Asp3074Asn)
c.9151G>A (p.Asp3051Asn)
c.7555G>A (p.Asp2519Asn)
n.9691G>A
6g.51748202A=CA1628502758PKHD1c.9414T= (p.Leu3138=)
c.9285T= (p.Leu3095=)
c.9276T= (p.Leu3092=)
c.8772T= (p.Leu2924=)
c.8703T= (p.Leu2901=)
c.3489T= (p.Leu1163=)
c.9339T= (p.Leu3113=)
c.9219T= (p.Leu3073=)
c.9150T= (p.Leu3050=)
c.7554T= (p.Leu2518=)
n.9690T=
6g.51748202A>CCA450613758PKHD1c.9414T>G (p.Leu3138=)
c.9285T>G (p.Leu3095=)
c.9276T>G (p.Leu3092=)
c.8772T>G (p.Leu2924=)
c.8703T>G (p.Leu2901=)
c.3489T>G (p.Leu1163=)
c.9339T>G (p.Leu3113=)
c.9219T>G (p.Leu3073=)
c.9150T>G (p.Leu3050=)
c.7554T>G (p.Leu2518=)
n.9690T>G
6g.51748202A>GCA450613759PKHD1c.9414T>C (p.Leu3138=)
c.9285T>C (p.Leu3095=)
c.9276T>C (p.Leu3092=)
c.8772T>C (p.Leu2924=)
c.8703T>C (p.Leu2901=)
c.3489T>C (p.Leu1163=)
c.9339T>C (p.Leu3113=)
c.9219T>C (p.Leu3073=)
c.9150T>C (p.Leu3050=)
c.7554T>C (p.Leu2518=)
n.9690T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748202A>TCA450613760PKHD1c.9414T>A (p.Leu3138=)
c.9285T>A (p.Leu3095=)
c.9276T>A (p.Leu3092=)
c.8772T>A (p.Leu2924=)
c.8703T>A (p.Leu2901=)
c.3489T>A (p.Leu1163=)
c.9339T>A (p.Leu3113=)
c.9219T>A (p.Leu3073=)
c.9150T>A (p.Leu3050=)
c.7554T>A (p.Leu2518=)
n.9690T>A
6g.51748203A>CCA364421121PKHD1c.9413T>G (p.Leu3138Arg)
c.9284T>G (p.Leu3095Arg)
c.9275T>G (p.Leu3092Arg)
c.8771T>G (p.Leu2924Arg)
c.8702T>G (p.Leu2901Arg)
c.3488T>G (p.Leu1163Arg)
c.9338T>G (p.Leu3113Arg)
c.9218T>G (p.Leu3073Arg)
c.9149T>G (p.Leu3050Arg)
c.7553T>G (p.Leu2518Arg)
n.9689T>G
6g.51748203A>GCA364421122PKHD1c.9413T>C (p.Leu3138Pro)
c.9284T>C (p.Leu3095Pro)
c.9275T>C (p.Leu3092Pro)
c.8771T>C (p.Leu2924Pro)
c.8702T>C (p.Leu2901Pro)
c.3488T>C (p.Leu1163Pro)
c.9338T>C (p.Leu3113Pro)
c.9218T>C (p.Leu3073Pro)
c.9149T>C (p.Leu3050Pro)
c.7553T>C (p.Leu2518Pro)
n.9689T>C
6g.51748203A>TCA364421123PKHD1c.9413T>A (p.Leu3138His)
c.9284T>A (p.Leu3095His)
c.9275T>A (p.Leu3092His)
c.8771T>A (p.Leu2924His)
c.8702T>A (p.Leu2901His)
c.3488T>A (p.Leu1163His)
c.9338T>A (p.Leu3113His)
c.9218T>A (p.Leu3073His)
c.9149T>A (p.Leu3050His)
c.7553T>A (p.Leu2518His)
n.9689T>A
6g.51748204G>ACA364421124PKHD1c.9412C>T (p.Leu3138Phe)
c.9283C>T (p.Leu3095Phe)
c.9274C>T (p.Leu3092Phe)
c.8770C>T (p.Leu2924Phe)
c.8701C>T (p.Leu2901Phe)
c.3487C>T (p.Leu1163Phe)
c.9337C>T (p.Leu3113Phe)
c.9217C>T (p.Leu3073Phe)
c.9148C>T (p.Leu3050Phe)
c.7552C>T (p.Leu2518Phe)
n.9688C>T
6g.51748204G>CCA364421126PKHD1c.9412C>G (p.Leu3138Val)
c.9283C>G (p.Leu3095Val)
c.9274C>G (p.Leu3092Val)
c.8770C>G (p.Leu2924Val)
c.8701C>G (p.Leu2901Val)
c.3487C>G (p.Leu1163Val)
c.9337C>G (p.Leu3113Val)
c.9217C>G (p.Leu3073Val)
c.9148C>G (p.Leu3050Val)
c.7552C>G (p.Leu2518Val)
n.9688C>G
6g.51748204G>TCA364421125PKHD1c.9412C>A (p.Leu3138Ile)
c.9283C>A (p.Leu3095Ile)
c.9274C>A (p.Leu3092Ile)
c.8770C>A (p.Leu2924Ile)
c.8701C>A (p.Leu2901Ile)
c.3487C>A (p.Leu1163Ile)
c.9337C>A (p.Leu3113Ile)
c.9217C>A (p.Leu3073Ile)
c.9148C>A (p.Leu3050Ile)
c.7552C>A (p.Leu2518Ile)
n.9688C>A
6g.51748205T>ACA3851393PKHD1c.9411A>T (p.Gly3137=)
c.9282A>T (p.Gly3094=)
c.9273A>T (p.Gly3091=)
c.8769A>T (p.Gly2923=)
c.8700A>T (p.Gly2900=)
c.3486A>T (p.Gly1162=)
c.9336A>T (p.Gly3112=)
c.9216A>T (p.Gly3072=)
c.9147A>T (p.Gly3049=)
c.7551A>T (p.Gly2517=)
n.9687A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748205T>CCA450613762PKHD1c.9411A>G (p.Gly3137=)
c.9282A>G (p.Gly3094=)
c.9273A>G (p.Gly3091=)
c.8769A>G (p.Gly2923=)
c.8700A>G (p.Gly2900=)
c.3486A>G (p.Gly1162=)
c.9336A>G (p.Gly3112=)
c.9216A>G (p.Gly3072=)
c.9147A>G (p.Gly3049=)
c.7551A>G (p.Gly2517=)
n.9687A>G
6g.51748205T>GCA450613763PKHD1c.9411A>C (p.Gly3137=)
c.9282A>C (p.Gly3094=)
c.9273A>C (p.Gly3091=)
c.8769A>C (p.Gly2923=)
c.8700A>C (p.Gly2900=)
c.3486A>C (p.Gly1162=)
c.9336A>C (p.Gly3112=)
c.9216A>C (p.Gly3072=)
c.9147A>C (p.Gly3049=)
c.7551A>C (p.Gly2517=)
n.9687A>C
6g.51748205T=CA1628502762PKHD1c.9411A= (p.Gly3137=)
c.9282A= (p.Gly3094=)
c.9273A= (p.Gly3091=)
c.8769A= (p.Gly2923=)
c.8700A= (p.Gly2900=)
c.3486A= (p.Gly1162=)
c.9336A= (p.Gly3112=)
c.9216A= (p.Gly3072=)
c.9147A= (p.Gly3049=)
c.7551A= (p.Gly2517=)
n.9687A=
6g.51748206C>ACA364421127PKHD1c.9410G>T (p.Gly3137Val)
c.9281G>T (p.Gly3094Val)
c.9272G>T (p.Gly3091Val)
c.8768G>T (p.Gly2923Val)
c.8699G>T (p.Gly2900Val)
c.3485G>T (p.Gly1162Val)
c.9335G>T (p.Gly3112Val)
c.9215G>T (p.Gly3072Val)
c.9146G>T (p.Gly3049Val)
c.7550G>T (p.Gly2517Val)
n.9686G>T
 dbSNP gnomAD v2 gnomAD v4
6g.51748206C=CA1628502773PKHD1c.9410G= (p.Gly3137=)
c.9281G= (p.Gly3094=)
c.9272G= (p.Gly3091=)
c.8768G= (p.Gly2923=)
c.8699G= (p.Gly2900=)
c.3485G= (p.Gly1162=)
c.9335G= (p.Gly3112=)
c.9215G= (p.Gly3072=)
c.9146G= (p.Gly3049=)
c.7550G= (p.Gly2517=)
n.9686G=
6g.51748206C>GCA364421128PKHD1c.9410G>C (p.Gly3137Ala)
c.9281G>C (p.Gly3094Ala)
c.9272G>C (p.Gly3091Ala)
c.8768G>C (p.Gly2923Ala)
c.8699G>C (p.Gly2900Ala)
c.3485G>C (p.Gly1162Ala)
c.9335G>C (p.Gly3112Ala)
c.9215G>C (p.Gly3072Ala)
c.9146G>C (p.Gly3049Ala)
c.7550G>C (p.Gly2517Ala)
n.9686G>C
6g.51748206C>TCA364421129PKHD1c.9410G>A (p.Gly3137Glu)
c.9281G>A (p.Gly3094Glu)
c.9272G>A (p.Gly3091Glu)
c.8768G>A (p.Gly2923Glu)
c.8699G>A (p.Gly2900Glu)
c.3485G>A (p.Gly1162Glu)
c.9335G>A (p.Gly3112Glu)
c.9215G>A (p.Gly3072Glu)
c.9146G>A (p.Gly3049Glu)
c.7550G>A (p.Gly2517Glu)
n.9686G>A
 dbSNP gnomAD v2 gnomAD v4
6g.51748207C>ACA364421130PKHD1c.9409G>T (p.Gly3137Ter)
c.9280G>T (p.Gly3094Ter)
c.9271G>T (p.Gly3091Ter)
c.8767G>T (p.Gly2923Ter)
c.8698G>T (p.Gly2900Ter)
c.3484G>T (p.Gly1162Ter)
c.9334G>T (p.Gly3112Ter)
c.9214G>T (p.Gly3072Ter)
c.9145G>T (p.Gly3049Ter)
c.7549G>T (p.Gly2517Ter)
n.9685G>T
6g.51748207C>GCA364421131PKHD1c.9409G>C (p.Gly3137Arg)
c.9280G>C (p.Gly3094Arg)
c.9271G>C (p.Gly3091Arg)
c.8767G>C (p.Gly2923Arg)
c.8698G>C (p.Gly2900Arg)
c.3484G>C (p.Gly1162Arg)
c.9334G>C (p.Gly3112Arg)
c.9214G>C (p.Gly3072Arg)
c.9145G>C (p.Gly3049Arg)
c.7549G>C (p.Gly2517Arg)
n.9685G>C
6g.51748207C>TCA364421132PKHD1c.9409G>A (p.Gly3137Arg)
c.9280G>A (p.Gly3094Arg)
c.9271G>A (p.Gly3091Arg)
c.8767G>A (p.Gly2923Arg)
c.8698G>A (p.Gly2900Arg)
c.3484G>A (p.Gly1162Arg)
c.9334G>A (p.Gly3112Arg)
c.9214G>A (p.Gly3072Arg)
c.9145G>A (p.Gly3049Arg)
c.7549G>A (p.Gly2517Arg)
n.9685G>A
6g.51748208A=CA1628502781PKHD1c.9408T= (p.Ser3136=)
c.9279T= (p.Ser3093=)
c.9270T= (p.Ser3090=)
c.8766T= (p.Ser2922=)
c.8697T= (p.Ser2899=)
c.3483T= (p.Ser1161=)
c.9333T= (p.Ser3111=)
c.9213T= (p.Ser3071=)
c.9144T= (p.Ser3048=)
c.7548T= (p.Ser2516=)
n.9684T=
6g.51748208A>CCA364421133PKHD1c.9408T>G (p.Ser3136Arg)
c.9279T>G (p.Ser3093Arg)
c.9270T>G (p.Ser3090Arg)
c.8766T>G (p.Ser2922Arg)
c.8697T>G (p.Ser2899Arg)
c.3483T>G (p.Ser1161Arg)
c.9333T>G (p.Ser3111Arg)
c.9213T>G (p.Ser3071Arg)
c.9144T>G (p.Ser3048Arg)
c.7548T>G (p.Ser2516Arg)
n.9684T>G
 dbSNP
6g.51748208A>GCA450613764PKHD1c.9408T>C (p.Ser3136=)
c.9279T>C (p.Ser3093=)
c.9270T>C (p.Ser3090=)
c.8766T>C (p.Ser2922=)
c.8697T>C (p.Ser2899=)
c.3483T>C (p.Ser1161=)
c.9333T>C (p.Ser3111=)
c.9213T>C (p.Ser3071=)
c.9144T>C (p.Ser3048=)
c.7548T>C (p.Ser2516=)
n.9684T>C
 ClinVar dbSNP
6g.51748208A>TCA364421134PKHD1c.9408T>A (p.Ser3136Arg)
c.9279T>A (p.Ser3093Arg)
c.9270T>A (p.Ser3090Arg)
c.8766T>A (p.Ser2922Arg)
c.8697T>A (p.Ser2899Arg)
c.3483T>A (p.Ser1161Arg)
c.9333T>A (p.Ser3111Arg)
c.9213T>A (p.Ser3071Arg)
c.9144T>A (p.Ser3048Arg)
c.7548T>A (p.Ser2516Arg)
n.9684T>A
6g.51748209C>ACA364421135PKHD1c.9407G>T (p.Ser3136Ile)
c.9278G>T (p.Ser3093Ile)
c.9269G>T (p.Ser3090Ile)
c.8765G>T (p.Ser2922Ile)
c.8696G>T (p.Ser2899Ile)
c.3482G>T (p.Ser1161Ile)
c.9332G>T (p.Ser3111Ile)
c.9212G>T (p.Ser3071Ile)
c.9143G>T (p.Ser3048Ile)
c.7547G>T (p.Ser2516Ile)
n.9683G>T
6g.51748209C>GCA364421136PKHD1c.9407G>C (p.Ser3136Thr)
c.9278G>C (p.Ser3093Thr)
c.9269G>C (p.Ser3090Thr)
c.8765G>C (p.Ser2922Thr)
c.8696G>C (p.Ser2899Thr)
c.3482G>C (p.Ser1161Thr)
c.9332G>C (p.Ser3111Thr)
c.9212G>C (p.Ser3071Thr)
c.9143G>C (p.Ser3048Thr)
c.7547G>C (p.Ser2516Thr)
n.9683G>C
6g.51748209C>TCA364421137PKHD1c.9407G>A (p.Ser3136Asn)
c.9278G>A (p.Ser3093Asn)
c.9269G>A (p.Ser3090Asn)
c.8765G>A (p.Ser2922Asn)
c.8696G>A (p.Ser2899Asn)
c.3482G>A (p.Ser1161Asn)
c.9332G>A (p.Ser3111Asn)
c.9212G>A (p.Ser3071Asn)
c.9143G>A (p.Ser3048Asn)
c.7547G>A (p.Ser2516Asn)
n.9683G>A
6g.51748210T>ACA364421140PKHD1c.9406A>T (p.Ser3136Cys)
c.9277A>T (p.Ser3093Cys)
c.9268A>T (p.Ser3090Cys)
c.8764A>T (p.Ser2922Cys)
c.8695A>T (p.Ser2899Cys)
c.3481A>T (p.Ser1161Cys)
c.9331A>T (p.Ser3111Cys)
c.9211A>T (p.Ser3071Cys)
c.9142A>T (p.Ser3048Cys)
c.7546A>T (p.Ser2516Cys)
n.9682A>T
6g.51748210T>CCA364421138PKHD1c.9406A>G (p.Ser3136Gly)
c.9277A>G (p.Ser3093Gly)
c.9268A>G (p.Ser3090Gly)
c.8764A>G (p.Ser2922Gly)
c.8695A>G (p.Ser2899Gly)
c.3481A>G (p.Ser1161Gly)
c.9331A>G (p.Ser3111Gly)
c.9211A>G (p.Ser3071Gly)
c.9142A>G (p.Ser3048Gly)
c.7546A>G (p.Ser2516Gly)
n.9682A>G
 dbSNP gnomAD v4
6g.51748210T>GCA364421139PKHD1c.9406A>C (p.Ser3136Arg)
c.9277A>C (p.Ser3093Arg)
c.9268A>C (p.Ser3090Arg)
c.8764A>C (p.Ser2922Arg)
c.8695A>C (p.Ser2899Arg)
c.3481A>C (p.Ser1161Arg)
c.9331A>C (p.Ser3111Arg)
c.9211A>C (p.Ser3071Arg)
c.9142A>C (p.Ser3048Arg)
c.7546A>C (p.Ser2516Arg)
n.9682A>C
6g.51748210T=CA1628502782PKHD1c.9406A= (p.Ser3136=)
c.9277A= (p.Ser3093=)
c.9268A= (p.Ser3090=)
c.8764A= (p.Ser2922=)
c.8695A= (p.Ser2899=)
c.3481A= (p.Ser1161=)
c.9331A= (p.Ser3111=)
c.9211A= (p.Ser3071=)
c.9142A= (p.Ser3048=)
c.7546A= (p.Ser2516=)
n.9682A=
6g.51748211T>ACA364421141PKHD1c.9405A>T (p.Glu3135Asp)
c.9276A>T (p.Glu3092Asp)
c.9267A>T (p.Glu3089Asp)
c.8763A>T (p.Glu2921Asp)
c.8694A>T (p.Glu2898Asp)
c.3480A>T (p.Glu1160Asp)
c.9330A>T (p.Glu3110Asp)
c.9210A>T (p.Glu3070Asp)
c.9141A>T (p.Glu3047Asp)
c.7545A>T (p.Glu2515Asp)
n.9681A>T
6g.51748211T>CCA450613766PKHD1c.9405A>G (p.Glu3135=)
c.9276A>G (p.Glu3092=)
c.9267A>G (p.Glu3089=)
c.8763A>G (p.Glu2921=)
c.8694A>G (p.Glu2898=)
c.3480A>G (p.Glu1160=)
c.9330A>G (p.Glu3110=)
c.9210A>G (p.Glu3070=)
c.9141A>G (p.Glu3047=)
c.7545A>G (p.Glu2515=)
n.9681A>G
 gnomAD v4
6g.51748211T>GCA364421142PKHD1c.9405A>C (p.Glu3135Asp)
c.9276A>C (p.Glu3092Asp)
c.9267A>C (p.Glu3089Asp)
c.8763A>C (p.Glu2921Asp)
c.8694A>C (p.Glu2898Asp)
c.3480A>C (p.Glu1160Asp)
c.9330A>C (p.Glu3110Asp)
c.9210A>C (p.Glu3070Asp)
c.9141A>C (p.Glu3047Asp)
c.7545A>C (p.Glu2515Asp)
n.9681A>C
6g.51748212T>ACA364421143PKHD1c.9404A>T (p.Glu3135Val)
c.9275A>T (p.Glu3092Val)
c.9266A>T (p.Glu3089Val)
c.8762A>T (p.Glu2921Val)
c.8693A>T (p.Glu2898Val)
c.3479A>T (p.Glu1160Val)
c.9329A>T (p.Glu3110Val)
c.9209A>T (p.Glu3070Val)
c.9140A>T (p.Glu3047Val)
c.7544A>T (p.Glu2515Val)
n.9680A>T
6g.51748212T>CCA364421144PKHD1c.9404A>G (p.Glu3135Gly)
c.9275A>G (p.Glu3092Gly)
c.9266A>G (p.Glu3089Gly)
c.8762A>G (p.Glu2921Gly)
c.8693A>G (p.Glu2898Gly)
c.3479A>G (p.Glu1160Gly)
c.9329A>G (p.Glu3110Gly)
c.9209A>G (p.Glu3070Gly)
c.9140A>G (p.Glu3047Gly)
c.7544A>G (p.Glu2515Gly)
n.9680A>G
6g.51748212T>GCA138896272PKHD1c.9404A>C (p.Glu3135Ala)
c.9275A>C (p.Glu3092Ala)
c.9266A>C (p.Glu3089Ala)
c.8762A>C (p.Glu2921Ala)
c.8693A>C (p.Glu2898Ala)
c.3479A>C (p.Glu1160Ala)
c.9329A>C (p.Glu3110Ala)
c.9209A>C (p.Glu3070Ala)
c.9140A>C (p.Glu3047Ala)
c.7544A>C (p.Glu2515Ala)
n.9680A>C
 dbSNP
6g.51748212T=CA1628502783PKHD1c.9404A= (p.Glu3135=)
c.9275A= (p.Glu3092=)
c.9266A= (p.Glu3089=)
c.8762A= (p.Glu2921=)
c.8693A= (p.Glu2898=)
c.3479A= (p.Glu1160=)
c.9329A= (p.Glu3110=)
c.9209A= (p.Glu3070=)
c.9140A= (p.Glu3047=)
c.7544A= (p.Glu2515=)
n.9680A=
6g.51748213C>ACA364421145PKHD1c.9403G>T (p.Glu3135Ter)
c.9274G>T (p.Glu3092Ter)
c.9265G>T (p.Glu3089Ter)
c.8761G>T (p.Glu2921Ter)
c.8692G>T (p.Glu2898Ter)
c.3478G>T (p.Glu1160Ter)
c.9328G>T (p.Glu3110Ter)
c.9208G>T (p.Glu3070Ter)
c.9139G>T (p.Glu3047Ter)
c.7543G>T (p.Glu2515Ter)
n.9679G>T
6g.51748213C>GCA364421146PKHD1c.9403G>C (p.Glu3135Gln)
c.9274G>C (p.Glu3092Gln)
c.9265G>C (p.Glu3089Gln)
c.8761G>C (p.Glu2921Gln)
c.8692G>C (p.Glu2898Gln)
c.3478G>C (p.Glu1160Gln)
c.9328G>C (p.Glu3110Gln)
c.9208G>C (p.Glu3070Gln)
c.9139G>C (p.Glu3047Gln)
c.7543G>C (p.Glu2515Gln)
n.9679G>C
6g.51748213C>TCA364421147PKHD1c.9403G>A (p.Glu3135Lys)
c.9274G>A (p.Glu3092Lys)
c.9265G>A (p.Glu3089Lys)
c.8761G>A (p.Glu2921Lys)
c.8692G>A (p.Glu2898Lys)
c.3478G>A (p.Glu1160Lys)
c.9328G>A (p.Glu3110Lys)
c.9208G>A (p.Glu3070Lys)
c.9139G>A (p.Glu3047Lys)
c.7543G>A (p.Glu2515Lys)
n.9679G>A
 COSMIC COSMIC
6g.51748214C>ACA364421148PKHD1c.9402G>T (p.Lys3134Asn)
c.9273G>T (p.Lys3091Asn)
c.9264G>T (p.Lys3088Asn)
c.8760G>T (p.Lys2920Asn)
c.8691G>T (p.Lys2897Asn)
c.3477G>T (p.Lys1159Asn)
c.9327G>T (p.Lys3109Asn)
c.9207G>T (p.Lys3069Asn)
c.9138G>T (p.Lys3046Asn)
c.7542G>T (p.Lys2514Asn)
n.9678G>T
 dbSNP gnomAD v4
6g.51748214C=CA1628502788PKHD1c.9402G= (p.Lys3134=)
c.9273G= (p.Lys3091=)
c.9264G= (p.Lys3088=)
c.8760G= (p.Lys2920=)
c.8691G= (p.Lys2897=)
c.3477G= (p.Lys1159=)
c.9327G= (p.Lys3109=)
c.9207G= (p.Lys3069=)
c.9138G= (p.Lys3046=)
c.7542G= (p.Lys2514=)
n.9678G=
6g.51748214C>GCA364421149PKHD1c.9402G>C (p.Lys3134Asn)
c.9273G>C (p.Lys3091Asn)
c.9264G>C (p.Lys3088Asn)
c.8760G>C (p.Lys2920Asn)
c.8691G>C (p.Lys2897Asn)
c.3477G>C (p.Lys1159Asn)
c.9327G>C (p.Lys3109Asn)
c.9207G>C (p.Lys3069Asn)
c.9138G>C (p.Lys3046Asn)
c.7542G>C (p.Lys2514Asn)
n.9678G>C
6g.51748214C>TCA3851394PKHD1c.9402G>A (p.Lys3134=)
c.9273G>A (p.Lys3091=)
c.9264G>A (p.Lys3088=)
c.8760G>A (p.Lys2920=)
c.8691G>A (p.Lys2897=)
c.3477G>A (p.Lys1159=)
c.9327G>A (p.Lys3109=)
c.9207G>A (p.Lys3069=)
c.9138G>A (p.Lys3046=)
c.7542G>A (p.Lys2514=)
n.9678G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748215T>ACA364421151PKHD1c.9401A>T (p.Lys3134Met)
c.9272A>T (p.Lys3091Met)
c.9263A>T (p.Lys3088Met)
c.8759A>T (p.Lys2920Met)
c.8690A>T (p.Lys2897Met)
c.3476A>T (p.Lys1159Met)
c.9326A>T (p.Lys3109Met)
c.9206A>T (p.Lys3069Met)
c.9137A>T (p.Lys3046Met)
c.7541A>T (p.Lys2514Met)
n.9677A>T
6g.51748215T>CCA364421152PKHD1c.9401A>G (p.Lys3134Arg)
c.9272A>G (p.Lys3091Arg)
c.9263A>G (p.Lys3088Arg)
c.8759A>G (p.Lys2920Arg)
c.8690A>G (p.Lys2897Arg)
c.3476A>G (p.Lys1159Arg)
c.9326A>G (p.Lys3109Arg)
c.9206A>G (p.Lys3069Arg)
c.9137A>G (p.Lys3046Arg)
c.7541A>G (p.Lys2514Arg)
n.9677A>G
6g.51748215T>GCA364421150PKHD1c.9401A>C (p.Lys3134Thr)
c.9272A>C (p.Lys3091Thr)
c.9263A>C (p.Lys3088Thr)
c.8759A>C (p.Lys2920Thr)
c.8690A>C (p.Lys2897Thr)
c.3476A>C (p.Lys1159Thr)
c.9326A>C (p.Lys3109Thr)
c.9206A>C (p.Lys3069Thr)
c.9137A>C (p.Lys3046Thr)
c.7541A>C (p.Lys2514Thr)
n.9677A>C
6g.51748216T>ACA364421155PKHD1c.9400A>T (p.Lys3134Ter)
c.9271A>T (p.Lys3091Ter)
c.9262A>T (p.Lys3088Ter)
c.8758A>T (p.Lys2920Ter)
c.8689A>T (p.Lys2897Ter)
c.3475A>T (p.Lys1159Ter)
c.9325A>T (p.Lys3109Ter)
c.9205A>T (p.Lys3069Ter)
c.9136A>T (p.Lys3046Ter)
c.7540A>T (p.Lys2514Ter)
n.9676A>T
6g.51748216T>CCA364421153PKHD1c.9400A>G (p.Lys3134Glu)
c.9271A>G (p.Lys3091Glu)
c.9262A>G (p.Lys3088Glu)
c.8758A>G (p.Lys2920Glu)
c.8689A>G (p.Lys2897Glu)
c.3475A>G (p.Lys1159Glu)
c.9325A>G (p.Lys3109Glu)
c.9205A>G (p.Lys3069Glu)
c.9136A>G (p.Lys3046Glu)
c.7540A>G (p.Lys2514Glu)
n.9676A>G
 ClinVar dbSNP
6g.51748216T>GCA364421154PKHD1c.9400A>C (p.Lys3134Gln)
c.9271A>C (p.Lys3091Gln)
c.9262A>C (p.Lys3088Gln)
c.8758A>C (p.Lys2920Gln)
c.8689A>C (p.Lys2897Gln)
c.3475A>C (p.Lys1159Gln)
c.9325A>C (p.Lys3109Gln)
c.9205A>C (p.Lys3069Gln)
c.9136A>C (p.Lys3046Gln)
c.7540A>C (p.Lys2514Gln)
n.9676A>C
6g.51748217A>CCA364421156PKHD1c.9399T>G (p.Tyr3133Ter)
c.9270T>G (p.Tyr3090Ter)
c.9261T>G (p.Tyr3087Ter)
c.8757T>G (p.Tyr2919Ter)
c.8688T>G (p.Tyr2896Ter)
c.3474T>G (p.Tyr1158Ter)
c.9324T>G (p.Tyr3108Ter)
c.9204T>G (p.Tyr3068Ter)
c.9135T>G (p.Tyr3045Ter)
c.7539T>G (p.Tyr2513Ter)
n.9675T>G
6g.51748217A>GCA450613772PKHD1c.9399T>C (p.Tyr3133=)
c.9270T>C (p.Tyr3090=)
c.9261T>C (p.Tyr3087=)
c.8757T>C (p.Tyr2919=)
c.8688T>C (p.Tyr2896=)
c.3474T>C (p.Tyr1158=)
c.9324T>C (p.Tyr3108=)
c.9204T>C (p.Tyr3068=)
c.9135T>C (p.Tyr3045=)
c.7539T>C (p.Tyr2513=)
n.9675T>C
6g.51748217A>TCA364421157PKHD1c.9399T>A (p.Tyr3133Ter)
c.9270T>A (p.Tyr3090Ter)
c.9261T>A (p.Tyr3087Ter)
c.8757T>A (p.Tyr2919Ter)
c.8688T>A (p.Tyr2896Ter)
c.3474T>A (p.Tyr1158Ter)
c.9324T>A (p.Tyr3108Ter)
c.9204T>A (p.Tyr3068Ter)
c.9135T>A (p.Tyr3045Ter)
c.7539T>A (p.Tyr2513Ter)
n.9675T>A
6g.51748218T>ACA364421158PKHD1c.9398A>T (p.Tyr3133Phe)
c.9269A>T (p.Tyr3090Phe)
c.9260A>T (p.Tyr3087Phe)
c.8756A>T (p.Tyr2919Phe)
c.8687A>T (p.Tyr2896Phe)
c.3473A>T (p.Tyr1158Phe)
c.9323A>T (p.Tyr3108Phe)
c.9203A>T (p.Tyr3068Phe)
c.9134A>T (p.Tyr3045Phe)
c.7538A>T (p.Tyr2513Phe)
n.9674A>T
 gnomAD v4
6g.51748218T>CCA3851395PKHD1c.9398A>G (p.Tyr3133Cys)
c.9269A>G (p.Tyr3090Cys)
c.9260A>G (p.Tyr3087Cys)
c.8756A>G (p.Tyr2919Cys)
c.8687A>G (p.Tyr2896Cys)
c.3473A>G (p.Tyr1158Cys)
c.9323A>G (p.Tyr3108Cys)
c.9203A>G (p.Tyr3068Cys)
c.9134A>G (p.Tyr3045Cys)
c.7538A>G (p.Tyr2513Cys)
n.9674A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748218T>GCA364421159PKHD1c.9398A>C (p.Tyr3133Ser)
c.9269A>C (p.Tyr3090Ser)
c.9260A>C (p.Tyr3087Ser)
c.8756A>C (p.Tyr2919Ser)
c.8687A>C (p.Tyr2896Ser)
c.3473A>C (p.Tyr1158Ser)
c.9323A>C (p.Tyr3108Ser)
c.9203A>C (p.Tyr3068Ser)
c.9134A>C (p.Tyr3045Ser)
c.7538A>C (p.Tyr2513Ser)
n.9674A>C
 dbSNP
6g.51748218T=CA1628502792PKHD1c.9398A= (p.Tyr3133=)
c.9269A= (p.Tyr3090=)
c.9260A= (p.Tyr3087=)
c.8756A= (p.Tyr2919=)
c.8687A= (p.Tyr2896=)
c.3473A= (p.Tyr1158=)
c.9323A= (p.Tyr3108=)
c.9203A= (p.Tyr3068=)
c.9134A= (p.Tyr3045=)
c.7538A= (p.Tyr2513=)
n.9674A=
6g.51748219A>CCA364421160PKHD1c.9397T>G (p.Tyr3133Asp)
c.9268T>G (p.Tyr3090Asp)
c.9259T>G (p.Tyr3087Asp)
c.8755T>G (p.Tyr2919Asp)
c.8686T>G (p.Tyr2896Asp)
c.3472T>G (p.Tyr1158Asp)
c.9322T>G (p.Tyr3108Asp)
c.9202T>G (p.Tyr3068Asp)
c.9133T>G (p.Tyr3045Asp)
c.7537T>G (p.Tyr2513Asp)
n.9673T>G
 gnomAD v4
6g.51748219A>GCA364421161PKHD1c.9397T>C (p.Tyr3133His)
c.9268T>C (p.Tyr3090His)
c.9259T>C (p.Tyr3087His)
c.8755T>C (p.Tyr2919His)
c.8686T>C (p.Tyr2896His)
c.3472T>C (p.Tyr1158His)
c.9322T>C (p.Tyr3108His)
c.9202T>C (p.Tyr3068His)
c.9133T>C (p.Tyr3045His)
c.7537T>C (p.Tyr2513His)
n.9673T>C
 COSMIC
6g.51748219A>TCA364421162PKHD1c.9397T>A (p.Tyr3133Asn)
c.9268T>A (p.Tyr3090Asn)
c.9259T>A (p.Tyr3087Asn)
c.8755T>A (p.Tyr2919Asn)
c.8686T>A (p.Tyr2896Asn)
c.3472T>A (p.Tyr1158Asn)
c.9322T>A (p.Tyr3108Asn)
c.9202T>A (p.Tyr3068Asn)
c.9133T>A (p.Tyr3045Asn)
c.7537T>A (p.Tyr2513Asn)
n.9673T>A
6g.51748220G>ACA450613778PKHD1c.9396C>T (p.Leu3132=)
c.9267C>T (p.Leu3089=)
c.9258C>T (p.Leu3086=)
c.8754C>T (p.Leu2918=)
c.8685C>T (p.Leu2895=)
c.3471C>T (p.Leu1157=)
c.9321C>T (p.Leu3107=)
c.9201C>T (p.Leu3067=)
c.9132C>T (p.Leu3044=)
c.7536C>T (p.Leu2512=)
n.9672C>T
 ClinVar gnomAD v4
6g.51748220G>CCA450613777PKHD1c.9396C>G (p.Leu3132=)
c.9267C>G (p.Leu3089=)
c.9258C>G (p.Leu3086=)
c.8754C>G (p.Leu2918=)
c.8685C>G (p.Leu2895=)
c.3471C>G (p.Leu1157=)
c.9321C>G (p.Leu3107=)
c.9201C>G (p.Leu3067=)
c.9132C>G (p.Leu3044=)
c.7536C>G (p.Leu2512=)
n.9672C>G
 ClinVar dbSNP
6g.51748220G>TCA450613776PKHD1c.9396C>A (p.Leu3132=)
c.9267C>A (p.Leu3089=)
c.9258C>A (p.Leu3086=)
c.8754C>A (p.Leu2918=)
c.8685C>A (p.Leu2895=)
c.3471C>A (p.Leu1157=)
c.9321C>A (p.Leu3107=)
c.9201C>A (p.Leu3067=)
c.9132C>A (p.Leu3044=)
c.7536C>A (p.Leu2512=)
n.9672C>A
6g.51748221A>CCA364421163PKHD1c.9395T>G (p.Leu3132Arg)
c.9266T>G (p.Leu3089Arg)
c.9257T>G (p.Leu3086Arg)
c.8753T>G (p.Leu2918Arg)
c.8684T>G (p.Leu2895Arg)
c.3470T>G (p.Leu1157Arg)
c.9320T>G (p.Leu3107Arg)
c.9200T>G (p.Leu3067Arg)
c.9131T>G (p.Leu3044Arg)
c.7535T>G (p.Leu2512Arg)
n.9671T>G
6g.51748221A>GCA364421164PKHD1c.9395T>C (p.Leu3132Pro)
c.9266T>C (p.Leu3089Pro)
c.9257T>C (p.Leu3086Pro)
c.8753T>C (p.Leu2918Pro)
c.8684T>C (p.Leu2895Pro)
c.3470T>C (p.Leu1157Pro)
c.9320T>C (p.Leu3107Pro)
c.9200T>C (p.Leu3067Pro)
c.9131T>C (p.Leu3044Pro)
c.7535T>C (p.Leu2512Pro)
n.9671T>C
6g.51748221A>TCA364421165PKHD1c.9395T>A (p.Leu3132His)
c.9266T>A (p.Leu3089His)
c.9257T>A (p.Leu3086His)
c.8753T>A (p.Leu2918His)
c.8684T>A (p.Leu2895His)
c.3470T>A (p.Leu1157His)
c.9320T>A (p.Leu3107His)
c.9200T>A (p.Leu3067His)
c.9131T>A (p.Leu3044His)
c.7535T>A (p.Leu2512His)
n.9671T>A
 gnomAD v4
6g.51748222G>ACA364421168PKHD1c.9394C>T (p.Leu3132Phe)
c.9265C>T (p.Leu3089Phe)
c.9256C>T (p.Leu3086Phe)
c.8752C>T (p.Leu2918Phe)
c.8683C>T (p.Leu2895Phe)
c.3469C>T (p.Leu1157Phe)
c.9319C>T (p.Leu3107Phe)
c.9199C>T (p.Leu3067Phe)
c.9130C>T (p.Leu3044Phe)
c.7534C>T (p.Leu2512Phe)
n.9670C>T
6g.51748222G>CCA364421166PKHD1c.9394C>G (p.Leu3132Val)
c.9265C>G (p.Leu3089Val)
c.9256C>G (p.Leu3086Val)
c.8752C>G (p.Leu2918Val)
c.8683C>G (p.Leu2895Val)
c.3469C>G (p.Leu1157Val)
c.9319C>G (p.Leu3107Val)
c.9199C>G (p.Leu3067Val)
c.9130C>G (p.Leu3044Val)
c.7534C>G (p.Leu2512Val)
n.9670C>G
6g.51748222G>TCA364421167PKHD1c.9394C>A (p.Leu3132Ile)
c.9265C>A (p.Leu3089Ile)
c.9256C>A (p.Leu3086Ile)
c.8752C>A (p.Leu2918Ile)
c.8683C>A (p.Leu2895Ile)
c.3469C>A (p.Leu1157Ile)
c.9319C>A (p.Leu3107Ile)
c.9199C>A (p.Leu3067Ile)
c.9130C>A (p.Leu3044Ile)
c.7534C>A (p.Leu2512Ile)
n.9670C>A
6g.51748223A=CA1628502797PKHD1c.9393T= (p.His3131=)
c.9264T= (p.His3088=)
c.9255T= (p.His3085=)
c.8751T= (p.His2917=)
c.8682T= (p.His2894=)
c.3468T= (p.His1156=)
c.9318T= (p.His3106=)
c.9198T= (p.His3066=)
c.9129T= (p.His3043=)
c.7533T= (p.His2511=)
n.9669T=
6g.51748223A>CCA364421169PKHD1c.9393T>G (p.His3131Gln)
c.9264T>G (p.His3088Gln)
c.9255T>G (p.His3085Gln)
c.8751T>G (p.His2917Gln)
c.8682T>G (p.His2894Gln)
c.3468T>G (p.His1156Gln)
c.9318T>G (p.His3106Gln)
c.9198T>G (p.His3066Gln)
c.9129T>G (p.His3043Gln)
c.7533T>G (p.His2511Gln)
n.9669T>G
6g.51748223A>GCA450613782PKHD1c.9393T>C (p.His3131=)
c.9264T>C (p.His3088=)
c.9255T>C (p.His3085=)
c.8751T>C (p.His2917=)
c.8682T>C (p.His2894=)
c.3468T>C (p.His1156=)
c.9318T>C (p.His3106=)
c.9198T>C (p.His3066=)
c.9129T>C (p.His3043=)
c.7533T>C (p.His2511=)
n.9669T>C
6g.51748223A>TCA364421170PKHD1c.9393T>A (p.His3131Gln)
c.9264T>A (p.His3088Gln)
c.9255T>A (p.His3085Gln)
c.8751T>A (p.His2917Gln)
c.8682T>A (p.His2894Gln)
c.3468T>A (p.His1156Gln)
c.9318T>A (p.His3106Gln)
c.9198T>A (p.His3066Gln)
c.9129T>A (p.His3043Gln)
c.7533T>A (p.His2511Gln)
n.9669T>A
 dbSNP
6g.51748224T>ACA364421171PKHD1c.9392A>T (p.His3131Leu)
c.9263A>T (p.His3088Leu)
c.9254A>T (p.His3085Leu)
c.8750A>T (p.His2917Leu)
c.8681A>T (p.His2894Leu)
c.3467A>T (p.His1156Leu)
c.9317A>T (p.His3106Leu)
c.9197A>T (p.His3066Leu)
c.9128A>T (p.His3043Leu)
c.7532A>T (p.His2511Leu)
n.9668A>T
6g.51748224T>CCA364421172PKHD1c.9392A>G (p.His3131Arg)
c.9263A>G (p.His3088Arg)
c.9254A>G (p.His3085Arg)
c.8750A>G (p.His2917Arg)
c.8681A>G (p.His2894Arg)
c.3467A>G (p.His1156Arg)
c.9317A>G (p.His3106Arg)
c.9197A>G (p.His3066Arg)
c.9128A>G (p.His3043Arg)
c.7532A>G (p.His2511Arg)
n.9668A>G
6g.51748224T>GCA364421173PKHD1c.9392A>C (p.His3131Pro)
c.9263A>C (p.His3088Pro)
c.9254A>C (p.His3085Pro)
c.8750A>C (p.His2917Pro)
c.8681A>C (p.His2894Pro)
c.3467A>C (p.His1156Pro)
c.9317A>C (p.His3106Pro)
c.9197A>C (p.His3066Pro)
c.9128A>C (p.His3043Pro)
c.7532A>C (p.His2511Pro)
n.9668A>C
6g.51748225G>ACA10605667PKHD1c.9391C>T (p.His3131Tyr)
c.9262C>T (p.His3088Tyr)
c.9253C>T (p.His3085Tyr)
c.8749C>T (p.His2917Tyr)
c.8680C>T (p.His2894Tyr)
c.3466C>T (p.His1156Tyr)
c.9316C>T (p.His3106Tyr)
c.9196C>T (p.His3066Tyr)
c.9127C>T (p.His3043Tyr)
c.7531C>T (p.His2511Tyr)
n.9667C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.51748225G>CCA364421174PKHD1c.9391C>G (p.His3131Asp)
c.9262C>G (p.His3088Asp)
c.9253C>G (p.His3085Asp)
c.8749C>G (p.His2917Asp)
c.8680C>G (p.His2894Asp)
c.3466C>G (p.His1156Asp)
c.9316C>G (p.His3106Asp)
c.9196C>G (p.His3066Asp)
c.9127C>G (p.His3043Asp)
c.7531C>G (p.His2511Asp)
n.9667C>G
6g.51748225G=CA1628502805PKHD1c.9391C= (p.His3131=)
c.9262C= (p.His3088=)
c.9253C= (p.His3085=)
c.8749C= (p.His2917=)
c.8680C= (p.His2894=)
c.3466C= (p.His1156=)
c.9316C= (p.His3106=)
c.9196C= (p.His3066=)
c.9127C= (p.His3043=)
c.7531C= (p.His2511=)
n.9667C=
6g.51748225G>TCA364421175PKHD1c.9391C>A (p.His3131Asn)
c.9262C>A (p.His3088Asn)
c.9253C>A (p.His3085Asn)
c.8749C>A (p.His2917Asn)
c.8680C>A (p.His2894Asn)
c.3466C>A (p.His1156Asn)
c.9316C>A (p.His3106Asn)
c.9196C>A (p.His3066Asn)
c.9127C>A (p.His3043Asn)
c.7531C>A (p.His2511Asn)
n.9667C>A
6g.51748226A>CCA450613784PKHD1c.9390T>G (p.Leu3130=)
c.9261T>G (p.Leu3087=)
c.9252T>G (p.Leu3084=)
c.8748T>G (p.Leu2916=)
c.8679T>G (p.Leu2893=)
c.3465T>G (p.Leu1155=)
c.9315T>G (p.Leu3105=)
c.9195T>G (p.Leu3065=)
c.9126T>G (p.Leu3042=)
c.7530T>G (p.Leu2510=)
n.9666T>G
6g.51748226A>GCA450613785PKHD1c.9390T>C (p.Leu3130=)
c.9261T>C (p.Leu3087=)
c.9252T>C (p.Leu3084=)
c.8748T>C (p.Leu2916=)
c.8679T>C (p.Leu2893=)
c.3465T>C (p.Leu1155=)
c.9315T>C (p.Leu3105=)
c.9195T>C (p.Leu3065=)
c.9126T>C (p.Leu3042=)
c.7530T>C (p.Leu2510=)
n.9666T>C
6g.51748226A>TCA450613786PKHD1c.9390T>A (p.Leu3130=)
c.9261T>A (p.Leu3087=)
c.9252T>A (p.Leu3084=)
c.8748T>A (p.Leu2916=)
c.8679T>A (p.Leu2893=)
c.3465T>A (p.Leu1155=)
c.9315T>A (p.Leu3105=)
c.9195T>A (p.Leu3065=)
c.9126T>A (p.Leu3042=)
c.7530T>A (p.Leu2510=)
n.9666T>A
6g.51748227A>CCA364421176PKHD1c.9389T>G (p.Leu3130Arg)
c.9260T>G (p.Leu3087Arg)
c.9251T>G (p.Leu3084Arg)
c.8747T>G (p.Leu2916Arg)
c.8678T>G (p.Leu2893Arg)
c.3464T>G (p.Leu1155Arg)
c.9314T>G (p.Leu3105Arg)
c.9194T>G (p.Leu3065Arg)
c.9125T>G (p.Leu3042Arg)
c.7529T>G (p.Leu2510Arg)
n.9665T>G
6g.51748227A>GCA364421177PKHD1c.9389T>C (p.Leu3130Pro)
c.9260T>C (p.Leu3087Pro)
c.9251T>C (p.Leu3084Pro)
c.8747T>C (p.Leu2916Pro)
c.8678T>C (p.Leu2893Pro)
c.3464T>C (p.Leu1155Pro)
c.9314T>C (p.Leu3105Pro)
c.9194T>C (p.Leu3065Pro)
c.9125T>C (p.Leu3042Pro)
c.7529T>C (p.Leu2510Pro)
n.9665T>C
6g.51748227A>TCA364421178PKHD1c.9389T>A (p.Leu3130His)
c.9260T>A (p.Leu3087His)
c.9251T>A (p.Leu3084His)
c.8747T>A (p.Leu2916His)
c.8678T>A (p.Leu2893His)
c.3464T>A (p.Leu1155His)
c.9314T>A (p.Leu3105His)
c.9194T>A (p.Leu3065His)
c.9125T>A (p.Leu3042His)
c.7529T>A (p.Leu2510His)
n.9665T>A
6g.51748228G>ACA364421181PKHD1c.9388C>T (p.Leu3130Phe)
c.9259C>T (p.Leu3087Phe)
c.9250C>T (p.Leu3084Phe)
c.8746C>T (p.Leu2916Phe)
c.8677C>T (p.Leu2893Phe)
c.3463C>T (p.Leu1155Phe)
c.9313C>T (p.Leu3105Phe)
c.9193C>T (p.Leu3065Phe)
c.9124C>T (p.Leu3042Phe)
c.7528C>T (p.Leu2510Phe)
n.9664C>T
6g.51748228G>CCA364421180PKHD1c.9388C>G (p.Leu3130Val)
c.9259C>G (p.Leu3087Val)
c.9250C>G (p.Leu3084Val)
c.8746C>G (p.Leu2916Val)
c.8677C>G (p.Leu2893Val)
c.3463C>G (p.Leu1155Val)
c.9313C>G (p.Leu3105Val)
c.9193C>G (p.Leu3065Val)
c.9124C>G (p.Leu3042Val)
c.7528C>G (p.Leu2510Val)
n.9664C>G
6g.51748228G>TCA364421179PKHD1c.9388C>A (p.Leu3130Ile)
c.9259C>A (p.Leu3087Ile)
c.9250C>A (p.Leu3084Ile)
c.8746C>A (p.Leu2916Ile)
c.8677C>A (p.Leu2893Ile)
c.3463C>A (p.Leu1155Ile)
c.9313C>A (p.Leu3105Ile)
c.9193C>A (p.Leu3065Ile)
c.9124C>A (p.Leu3042Ile)
c.7528C>A (p.Leu2510Ile)
n.9664C>A
6g.51748229G>ACA3851396PKHD1c.9387C>T (p.Gly3129=)
c.9258C>T (p.Gly3086=)
c.9249C>T (p.Gly3083=)
c.8745C>T (p.Gly2915=)
c.8676C>T (p.Gly2892=)
c.3462C>T (p.Gly1154=)
c.9312C>T (p.Gly3104=)
c.9192C>T (p.Gly3064=)
c.9123C>T (p.Gly3041=)
c.7527C>T (p.Gly2509=)
n.9663C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748229G>CCA450613788PKHD1c.9387C>G (p.Gly3129=)
c.9258C>G (p.Gly3086=)
c.9249C>G (p.Gly3083=)
c.8745C>G (p.Gly2915=)
c.8676C>G (p.Gly2892=)
c.3462C>G (p.Gly1154=)
c.9312C>G (p.Gly3104=)
c.9192C>G (p.Gly3064=)
c.9123C>G (p.Gly3041=)
c.7527C>G (p.Gly2509=)
n.9663C>G
6g.51748229G=CA1628502812PKHD1c.9387C= (p.Gly3129=)
c.9258C= (p.Gly3086=)
c.9249C= (p.Gly3083=)
c.8745C= (p.Gly2915=)
c.8676C= (p.Gly2892=)
c.3462C= (p.Gly1154=)
c.9312C= (p.Gly3104=)
c.9192C= (p.Gly3064=)
c.9123C= (p.Gly3041=)
c.7527C= (p.Gly2509=)
n.9663C=
6g.51748229G>TCA450613789PKHD1c.9387C>A (p.Gly3129=)
c.9258C>A (p.Gly3086=)
c.9249C>A (p.Gly3083=)
c.8745C>A (p.Gly2915=)
c.8676C>A (p.Gly2892=)
c.3462C>A (p.Gly1154=)
c.9312C>A (p.Gly3104=)
c.9192C>A (p.Gly3064=)
c.9123C>A (p.Gly3041=)
c.7527C>A (p.Gly2509=)
n.9663C>A
 COSMIC COSMIC
6g.51748229_51748230delinsGCCA1628502814PKHD1c.9386_9387delinsGC (p.Gly3129=)
c.9257_9258delinsGC (p.Gly3086=)
c.9248_9249delinsGC (p.Gly3083=)
c.8744_8745delinsGC (p.Gly2915=)
c.8675_8676delinsGC (p.Gly2892=)
c.3461_3462delinsGC (p.Gly1154=)
c.9311_9312delinsGC (p.Gly3104=)
c.9191_9192delinsGC (p.Gly3064=)
c.9122_9123delinsGC (p.Gly3041=)
c.7526_7527delinsGC (p.Gly2509=)
n.9662_9663delinsGC
6g.51748230C>ACA364421182PKHD1c.9386G>T (p.Gly3129Val)
c.9257G>T (p.Gly3086Val)
c.9248G>T (p.Gly3083Val)
c.8744G>T (p.Gly2915Val)
c.8675G>T (p.Gly2892Val)
c.3461G>T (p.Gly1154Val)
c.9311G>T (p.Gly3104Val)
c.9191G>T (p.Gly3064Val)
c.9122G>T (p.Gly3041Val)
c.7526G>T (p.Gly2509Val)
n.9662G>T
6g.51748230C>GCA364421183PKHD1c.9386G>C (p.Gly3129Ala)
c.9257G>C (p.Gly3086Ala)
c.9248G>C (p.Gly3083Ala)
c.8744G>C (p.Gly2915Ala)
c.8675G>C (p.Gly2892Ala)
c.3461G>C (p.Gly1154Ala)
c.9311G>C (p.Gly3104Ala)
c.9191G>C (p.Gly3064Ala)
c.9122G>C (p.Gly3041Ala)
c.7526G>C (p.Gly2509Ala)
n.9662G>C
6g.51748230C>TCA364421184PKHD1c.9386G>A (p.Gly3129Asp)
c.9257G>A (p.Gly3086Asp)
c.9248G>A (p.Gly3083Asp)
c.8744G>A (p.Gly2915Asp)
c.8675G>A (p.Gly2892Asp)
c.3461G>A (p.Gly1154Asp)
c.9311G>A (p.Gly3104Asp)
c.9191G>A (p.Gly3064Asp)
c.9122G>A (p.Gly3041Asp)
c.7526G>A (p.Gly2509Asp)
n.9662G>A
6g.51748231delCA1139659316PKHD1c.9386del (p.Gly3129AlafsTer?)
c.9257del (p.Gly3086AlafsTer?)
c.9248del (p.Gly3083AlafsTer?)
c.8744del (p.Gly2915AlafsTer?)
c.8675del (p.Gly2892AlafsTer?)
c.3461del (p.Gly1154AlafsTer?)
c.9311del (p.Gly3104AlafsTer?)
c.9191del (p.Gly3064AlafsTer?)
c.9122del (p.Gly3041AlafsTer?)
c.7526del (p.Gly2509AlafsTer?)
n.9662del
 ClinVar dbSNP
6g.51748231C>ACA364421185PKHD1c.9385G>T (p.Gly3129Cys)
c.9256G>T (p.Gly3086Cys)
c.9247G>T (p.Gly3083Cys)
c.8743G>T (p.Gly2915Cys)
c.8674G>T (p.Gly2892Cys)
c.3460G>T (p.Gly1154Cys)
c.9310G>T (p.Gly3104Cys)
c.9190G>T (p.Gly3064Cys)
c.9121G>T (p.Gly3041Cys)
c.7525G>T (p.Gly2509Cys)
n.9661G>T
6g.51748231C>GCA364421186PKHD1c.9385G>C (p.Gly3129Arg)
c.9256G>C (p.Gly3086Arg)
c.9247G>C (p.Gly3083Arg)
c.8743G>C (p.Gly2915Arg)
c.8674G>C (p.Gly2892Arg)
c.3460G>C (p.Gly1154Arg)
c.9310G>C (p.Gly3104Arg)
c.9190G>C (p.Gly3064Arg)
c.9121G>C (p.Gly3041Arg)
c.7525G>C (p.Gly2509Arg)
n.9661G>C
6g.51748231C>TCA364421187PKHD1c.9385G>A (p.Gly3129Ser)
c.9256G>A (p.Gly3086Ser)
c.9247G>A (p.Gly3083Ser)
c.8743G>A (p.Gly2915Ser)
c.8674G>A (p.Gly2892Ser)
c.3460G>A (p.Gly1154Ser)
c.9310G>A (p.Gly3104Ser)
c.9190G>A (p.Gly3064Ser)
c.9121G>A (p.Gly3041Ser)
c.7525G>A (p.Gly2509Ser)
n.9661G>A
6g.51748232A>CCA364421188PKHD1c.9384T>G (p.His3128Gln)
c.9255T>G (p.His3085Gln)
c.9246T>G (p.His3082Gln)
c.8742T>G (p.His2914Gln)
c.8673T>G (p.His2891Gln)
c.3459T>G (p.His1153Gln)
c.9309T>G (p.His3103Gln)
c.9189T>G (p.His3063Gln)
c.9120T>G (p.His3040Gln)
c.7524T>G (p.His2508Gln)
n.9660T>G
6g.51748232A>GCA450613793PKHD1c.9384T>C (p.His3128=)
c.9255T>C (p.His3085=)
c.9246T>C (p.His3082=)
c.8742T>C (p.His2914=)
c.8673T>C (p.His2891=)
c.3459T>C (p.His1153=)
c.9309T>C (p.His3103=)
c.9189T>C (p.His3063=)
c.9120T>C (p.His3040=)
c.7524T>C (p.His2508=)
n.9660T>C
 ClinVar dbSNP gnomAD v4
6g.51748232A>TCA364421189PKHD1c.9384T>A (p.His3128Gln)
c.9255T>A (p.His3085Gln)
c.9246T>A (p.His3082Gln)
c.8742T>A (p.His2914Gln)
c.8673T>A (p.His2891Gln)
c.3459T>A (p.His1153Gln)
c.9309T>A (p.His3103Gln)
c.9189T>A (p.His3063Gln)
c.9120T>A (p.His3040Gln)
c.7524T>A (p.His2508Gln)
n.9660T>A
6g.51748233T>ACA364421190PKHD1c.9383A>T (p.His3128Leu)
c.9254A>T (p.His3085Leu)
c.9245A>T (p.His3082Leu)
c.8741A>T (p.His2914Leu)
c.8672A>T (p.His2891Leu)
c.3458A>T (p.His1153Leu)
c.9308A>T (p.His3103Leu)
c.9188A>T (p.His3063Leu)
c.9119A>T (p.His3040Leu)
c.7523A>T (p.His2508Leu)
n.9659A>T
6g.51748233T>CCA364421191PKHD1c.9383A>G (p.His3128Arg)
c.9254A>G (p.His3085Arg)
c.9245A>G (p.His3082Arg)
c.8741A>G (p.His2914Arg)
c.8672A>G (p.His2891Arg)
c.3458A>G (p.His1153Arg)
c.9308A>G (p.His3103Arg)
c.9188A>G (p.His3063Arg)
c.9119A>G (p.His3040Arg)
c.7523A>G (p.His2508Arg)
n.9659A>G
 dbSNP gnomAD v2 gnomAD v4
6g.51748233T>GCA364421192PKHD1c.9383A>C (p.His3128Pro)
c.9254A>C (p.His3085Pro)
c.9245A>C (p.His3082Pro)
c.8741A>C (p.His2914Pro)
c.8672A>C (p.His2891Pro)
c.3458A>C (p.His1153Pro)
c.9308A>C (p.His3103Pro)
c.9188A>C (p.His3063Pro)
c.9119A>C (p.His3040Pro)
c.7523A>C (p.His2508Pro)
n.9659A>C
 ClinVar dbSNP gnomAD v4
6g.51748233T=CA1628502823PKHD1c.9383A= (p.His3128=)
c.9254A= (p.His3085=)
c.9245A= (p.His3082=)
c.8741A= (p.His2914=)
c.8672A= (p.His2891=)
c.3458A= (p.His1153=)
c.9308A= (p.His3103=)
c.9188A= (p.His3063=)
c.9119A= (p.His3040=)
c.7523A= (p.His2508=)
n.9659A=
6g.51748234G>ACA364421194PKHD1c.9382C>T (p.His3128Tyr)
c.9253C>T (p.His3085Tyr)
c.9244C>T (p.His3082Tyr)
c.8740C>T (p.His2914Tyr)
c.8671C>T (p.His2891Tyr)
c.3457C>T (p.His1153Tyr)
c.9307C>T (p.His3103Tyr)
c.9187C>T (p.His3063Tyr)
c.9118C>T (p.His3040Tyr)
c.7522C>T (p.His2508Tyr)
n.9658C>T
6g.51748234G>CCA364421195PKHD1c.9382C>G (p.His3128Asp)
c.9253C>G (p.His3085Asp)
c.9244C>G (p.His3082Asp)
c.8740C>G (p.His2914Asp)
c.8671C>G (p.His2891Asp)
c.3457C>G (p.His1153Asp)
c.9307C>G (p.His3103Asp)
c.9187C>G (p.His3063Asp)
c.9118C>G (p.His3040Asp)
c.7522C>G (p.His2508Asp)
n.9658C>G
6g.51748234G>TCA364421193PKHD1c.9382C>A (p.His3128Asn)
c.9253C>A (p.His3085Asn)
c.9244C>A (p.His3082Asn)
c.8740C>A (p.His2914Asn)
c.8671C>A (p.His2891Asn)
c.3457C>A (p.His1153Asn)
c.9307C>A (p.His3103Asn)
c.9187C>A (p.His3063Asn)
c.9118C>A (p.His3040Asn)
c.7522C>A (p.His2508Asn)
n.9658C>A
6g.51748235A>CCA450613797PKHD1c.9381T>G (p.Leu3127=)
c.9252T>G (p.Leu3084=)
c.9243T>G (p.Leu3081=)
c.8739T>G (p.Leu2913=)
c.8670T>G (p.Leu2890=)
c.3456T>G (p.Leu1152=)
c.9306T>G (p.Leu3102=)
c.9186T>G (p.Leu3062=)
c.9117T>G (p.Leu3039=)
c.7521T>G (p.Leu2507=)
n.9657T>G
6g.51748235A>GCA450613798PKHD1c.9381T>C (p.Leu3127=)
c.9252T>C (p.Leu3084=)
c.9243T>C (p.Leu3081=)
c.8739T>C (p.Leu2913=)
c.8670T>C (p.Leu2890=)
c.3456T>C (p.Leu1152=)
c.9306T>C (p.Leu3102=)
c.9186T>C (p.Leu3062=)
c.9117T>C (p.Leu3039=)
c.7521T>C (p.Leu2507=)
n.9657T>C
6g.51748235A>TCA450613799PKHD1c.9381T>A (p.Leu3127=)
c.9252T>A (p.Leu3084=)
c.9243T>A (p.Leu3081=)
c.8739T>A (p.Leu2913=)
c.8670T>A (p.Leu2890=)
c.3456T>A (p.Leu1152=)
c.9306T>A (p.Leu3102=)
c.9186T>A (p.Leu3062=)
c.9117T>A (p.Leu3039=)
c.7521T>A (p.Leu2507=)
n.9657T>A
6g.51748236A=CA1628502826PKHD1c.9380T= (p.Leu3127=)
c.9251T= (p.Leu3084=)
c.9242T= (p.Leu3081=)
c.8738T= (p.Leu2913=)
c.8669T= (p.Leu2890=)
c.3455T= (p.Leu1152=)
c.9305T= (p.Leu3102=)
c.9185T= (p.Leu3062=)
c.9116T= (p.Leu3039=)
c.7520T= (p.Leu2507=)
n.9656T=
6g.51748236A>CCA364421196PKHD1c.9380T>G (p.Leu3127Arg)
c.9251T>G (p.Leu3084Arg)
c.9242T>G (p.Leu3081Arg)
c.8738T>G (p.Leu2913Arg)
c.8669T>G (p.Leu2890Arg)
c.3455T>G (p.Leu1152Arg)
c.9305T>G (p.Leu3102Arg)
c.9185T>G (p.Leu3062Arg)
c.9116T>G (p.Leu3039Arg)
c.7520T>G (p.Leu2507Arg)
n.9656T>G
 dbSNP gnomAD v2
6g.51748236A>GCA364421197PKHD1c.9380T>C (p.Leu3127Pro)
c.9251T>C (p.Leu3084Pro)
c.9242T>C (p.Leu3081Pro)
c.8738T>C (p.Leu2913Pro)
c.8669T>C (p.Leu2890Pro)
c.3455T>C (p.Leu1152Pro)
c.9305T>C (p.Leu3102Pro)
c.9185T>C (p.Leu3062Pro)
c.9116T>C (p.Leu3039Pro)
c.7520T>C (p.Leu2507Pro)
n.9656T>C
6g.51748236A>TCA364421198PKHD1c.9380T>A (p.Leu3127His)
c.9251T>A (p.Leu3084His)
c.9242T>A (p.Leu3081His)
c.8738T>A (p.Leu2913His)
c.8669T>A (p.Leu2890His)
c.3455T>A (p.Leu1152His)
c.9305T>A (p.Leu3102His)
c.9185T>A (p.Leu3062His)
c.9116T>A (p.Leu3039His)
c.7520T>A (p.Leu2507His)
n.9656T>A
6g.51748237G>ACA364421199PKHD1c.9379C>T (p.Leu3127Phe)
c.9250C>T (p.Leu3084Phe)
c.9241C>T (p.Leu3081Phe)
c.8737C>T (p.Leu2913Phe)
c.8668C>T (p.Leu2890Phe)
c.3454C>T (p.Leu1152Phe)
c.9304C>T (p.Leu3102Phe)
c.9184C>T (p.Leu3062Phe)
c.9115C>T (p.Leu3039Phe)
c.7519C>T (p.Leu2507Phe)
n.9655C>T
 gnomAD v4 COSMIC COSMIC
6g.51748237G>CCA364421200PKHD1c.9379C>G (p.Leu3127Val)
c.9250C>G (p.Leu3084Val)
c.9241C>G (p.Leu3081Val)
c.8737C>G (p.Leu2913Val)
c.8668C>G (p.Leu2890Val)
c.3454C>G (p.Leu1152Val)
c.9304C>G (p.Leu3102Val)
c.9184C>G (p.Leu3062Val)
c.9115C>G (p.Leu3039Val)
c.7519C>G (p.Leu2507Val)
n.9655C>G
 COSMIC COSMIC
6g.51748237G>TCA364421201PKHD1c.9379C>A (p.Leu3127Ile)
c.9250C>A (p.Leu3084Ile)
c.9241C>A (p.Leu3081Ile)
c.8737C>A (p.Leu2913Ile)
c.8668C>A (p.Leu2890Ile)
c.3454C>A (p.Leu1152Ile)
c.9304C>A (p.Leu3102Ile)
c.9184C>A (p.Leu3062Ile)
c.9115C>A (p.Leu3039Ile)
c.7519C>A (p.Leu2507Ile)
n.9655C>A
6g.51748238A>CCA364421202PKHD1c.9378T>G (p.Ser3126Arg)
c.9249T>G (p.Ser3083Arg)
c.9240T>G (p.Ser3080Arg)
c.8736T>G (p.Ser2912Arg)
c.8667T>G (p.Ser2889Arg)
c.3453T>G (p.Ser1151Arg)
c.9303T>G (p.Ser3101Arg)
c.9183T>G (p.Ser3061Arg)
c.9114T>G (p.Ser3038Arg)
c.7518T>G (p.Ser2506Arg)
n.9654T>G
6g.51748238A>GCA450613803PKHD1c.9378T>C (p.Ser3126=)
c.9249T>C (p.Ser3083=)
c.9240T>C (p.Ser3080=)
c.8736T>C (p.Ser2912=)
c.8667T>C (p.Ser2889=)
c.3453T>C (p.Ser1151=)
c.9303T>C (p.Ser3101=)
c.9183T>C (p.Ser3061=)
c.9114T>C (p.Ser3038=)
c.7518T>C (p.Ser2506=)
n.9654T>C
6g.51748238A>TCA364421203PKHD1c.9378T>A (p.Ser3126Arg)
c.9249T>A (p.Ser3083Arg)
c.9240T>A (p.Ser3080Arg)
c.8736T>A (p.Ser2912Arg)
c.8667T>A (p.Ser2889Arg)
c.3453T>A (p.Ser1151Arg)
c.9303T>A (p.Ser3101Arg)
c.9183T>A (p.Ser3061Arg)
c.9114T>A (p.Ser3038Arg)
c.7518T>A (p.Ser2506Arg)
n.9654T>A
6g.51748239C>ACA364421204PKHD1c.9377G>T (p.Ser3126Ile)
c.9248G>T (p.Ser3083Ile)
c.9239G>T (p.Ser3080Ile)
c.8735G>T (p.Ser2912Ile)
c.8666G>T (p.Ser2889Ile)
c.3452G>T (p.Ser1151Ile)
c.9302G>T (p.Ser3101Ile)
c.9182G>T (p.Ser3061Ile)
c.9113G>T (p.Ser3038Ile)
c.7517G>T (p.Ser2506Ile)
n.9653G>T
6g.51748239C=CA1628502831PKHD1c.9377G= (p.Ser3126=)
c.9248G= (p.Ser3083=)
c.9239G= (p.Ser3080=)
c.8735G= (p.Ser2912=)
c.8666G= (p.Ser2889=)
c.3452G= (p.Ser1151=)
c.9302G= (p.Ser3101=)
c.9182G= (p.Ser3061=)
c.9113G= (p.Ser3038=)
c.7517G= (p.Ser2506=)
n.9653G=
6g.51748239C>GCA364421205PKHD1c.9377G>C (p.Ser3126Thr)
c.9248G>C (p.Ser3083Thr)
c.9239G>C (p.Ser3080Thr)
c.8735G>C (p.Ser2912Thr)
c.8666G>C (p.Ser2889Thr)
c.3452G>C (p.Ser1151Thr)
c.9302G>C (p.Ser3101Thr)
c.9182G>C (p.Ser3061Thr)
c.9113G>C (p.Ser3038Thr)
c.7517G>C (p.Ser2506Thr)
n.9653G>C
6g.51748239C>TCA364421206PKHD1c.9377G>A (p.Ser3126Asn)
c.9248G>A (p.Ser3083Asn)
c.9239G>A (p.Ser3080Asn)
c.8735G>A (p.Ser2912Asn)
c.8666G>A (p.Ser2889Asn)
c.3452G>A (p.Ser1151Asn)
c.9302G>A (p.Ser3101Asn)
c.9182G>A (p.Ser3061Asn)
c.9113G>A (p.Ser3038Asn)
c.7517G>A (p.Ser2506Asn)
n.9653G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748240T>ACA364421207PKHD1c.9376A>T (p.Ser3126Cys)
c.9247A>T (p.Ser3083Cys)
c.9238A>T (p.Ser3080Cys)
c.8734A>T (p.Ser2912Cys)
c.8665A>T (p.Ser2889Cys)
c.3451A>T (p.Ser1151Cys)
c.9301A>T (p.Ser3101Cys)
c.9181A>T (p.Ser3061Cys)
c.9112A>T (p.Ser3038Cys)
c.7516A>T (p.Ser2506Cys)
n.9652A>T
6g.51748240T>CCA364421208PKHD1c.9376A>G (p.Ser3126Gly)
c.9247A>G (p.Ser3083Gly)
c.9238A>G (p.Ser3080Gly)
c.8734A>G (p.Ser2912Gly)
c.8665A>G (p.Ser2889Gly)
c.3451A>G (p.Ser1151Gly)
c.9301A>G (p.Ser3101Gly)
c.9181A>G (p.Ser3061Gly)
c.9112A>G (p.Ser3038Gly)
c.7516A>G (p.Ser2506Gly)
n.9652A>G
 dbSNP gnomAD v3 gnomAD v4
6g.51748240T>GCA364421209PKHD1c.9376A>C (p.Ser3126Arg)
c.9247A>C (p.Ser3083Arg)
c.9238A>C (p.Ser3080Arg)
c.8734A>C (p.Ser2912Arg)
c.8665A>C (p.Ser2889Arg)
c.3451A>C (p.Ser1151Arg)
c.9301A>C (p.Ser3101Arg)
c.9181A>C (p.Ser3061Arg)
c.9112A>C (p.Ser3038Arg)
c.7516A>C (p.Ser2506Arg)
n.9652A>C
6g.51748240T=CA1628502836PKHD1c.9376A= (p.Ser3126=)
c.9247A= (p.Ser3083=)
c.9238A= (p.Ser3080=)
c.8734A= (p.Ser2912=)
c.8665A= (p.Ser2889=)
c.3451A= (p.Ser1151=)
c.9301A= (p.Ser3101=)
c.9181A= (p.Ser3061=)
c.9112A= (p.Ser3038=)
c.7516A= (p.Ser2506=)
n.9652A=
6g.51748241T>ACA450613804PKHD1c.9375A>T (p.Ser3125=)
c.9246A>T (p.Ser3082=)
c.9237A>T (p.Ser3079=)
c.8733A>T (p.Ser2911=)
c.8664A>T (p.Ser2888=)
c.3450A>T (p.Ser1150=)
c.9300A>T (p.Ser3100=)
c.9180A>T (p.Ser3060=)
c.9111A>T (p.Ser3037=)
c.7515A>T (p.Ser2505=)
n.9651A>T
6g.51748241T>CCA450613806PKHD1c.9375A>G (p.Ser3125=)
c.9246A>G (p.Ser3082=)
c.9237A>G (p.Ser3079=)
c.8733A>G (p.Ser2911=)
c.8664A>G (p.Ser2888=)
c.3450A>G (p.Ser1150=)
c.9300A>G (p.Ser3100=)
c.9180A>G (p.Ser3060=)
c.9111A>G (p.Ser3037=)
c.7515A>G (p.Ser2505=)
n.9651A>G
 ClinVar dbSNP
6g.51748241T>GCA450613805PKHD1c.9375A>C (p.Ser3125=)
c.9246A>C (p.Ser3082=)
c.9237A>C (p.Ser3079=)
c.8733A>C (p.Ser2911=)
c.8664A>C (p.Ser2888=)
c.3450A>C (p.Ser1150=)
c.9300A>C (p.Ser3100=)
c.9180A>C (p.Ser3060=)
c.9111A>C (p.Ser3037=)
c.7515A>C (p.Ser2505=)
n.9651A>C
6g.51748242G>ACA364421212PKHD1c.9374C>T (p.Ser3125Leu)
c.9245C>T (p.Ser3082Leu)
c.9236C>T (p.Ser3079Leu)
c.8732C>T (p.Ser2911Leu)
c.8663C>T (p.Ser2888Leu)
c.3449C>T (p.Ser1150Leu)
c.9299C>T (p.Ser3100Leu)
c.9179C>T (p.Ser3060Leu)
c.9110C>T (p.Ser3037Leu)
c.7514C>T (p.Ser2505Leu)
n.9650C>T
6g.51748242G>CCA364421214PKHD1c.9374C>G (p.Ser3125Ter)
c.9245C>G (p.Ser3082Ter)
c.9236C>G (p.Ser3079Ter)
c.8732C>G (p.Ser2911Ter)
c.8663C>G (p.Ser2888Ter)
c.3449C>G (p.Ser1150Ter)
c.9299C>G (p.Ser3100Ter)
c.9179C>G (p.Ser3060Ter)
c.9110C>G (p.Ser3037Ter)
c.7514C>G (p.Ser2505Ter)
n.9650C>G
 COSMIC COSMIC
6g.51748242G>TCA364421210PKHD1c.9374C>A (p.Ser3125Ter)
c.9245C>A (p.Ser3082Ter)
c.9236C>A (p.Ser3079Ter)
c.8732C>A (p.Ser2911Ter)
c.8663C>A (p.Ser2888Ter)
c.3449C>A (p.Ser1150Ter)
c.9299C>A (p.Ser3100Ter)
c.9179C>A (p.Ser3060Ter)
c.9110C>A (p.Ser3037Ter)
c.7514C>A (p.Ser2505Ter)
n.9650C>A
6g.51748243A>CCA364421218PKHD1c.9373T>G (p.Ser3125Ala)
c.9244T>G (p.Ser3082Ala)
c.9235T>G (p.Ser3079Ala)
c.8731T>G (p.Ser2911Ala)
c.8662T>G (p.Ser2888Ala)
c.3448T>G (p.Ser1150Ala)
c.9298T>G (p.Ser3100Ala)
c.9178T>G (p.Ser3060Ala)
c.9109T>G (p.Ser3037Ala)
c.7513T>G (p.Ser2505Ala)
n.9649T>G
6g.51748243A>GCA364421216PKHD1c.9373T>C (p.Ser3125Pro)
c.9244T>C (p.Ser3082Pro)
c.9235T>C (p.Ser3079Pro)
c.8731T>C (p.Ser2911Pro)
c.8662T>C (p.Ser2888Pro)
c.3448T>C (p.Ser1150Pro)
c.9298T>C (p.Ser3100Pro)
c.9178T>C (p.Ser3060Pro)
c.9109T>C (p.Ser3037Pro)
c.7513T>C (p.Ser2505Pro)
n.9649T>C
6g.51748243A>TCA364421220PKHD1c.9373T>A (p.Ser3125Thr)
c.9244T>A (p.Ser3082Thr)
c.9235T>A (p.Ser3079Thr)
c.8731T>A (p.Ser2911Thr)
c.8662T>A (p.Ser2888Thr)
c.3448T>A (p.Ser1150Thr)
c.9298T>A (p.Ser3100Thr)
c.9178T>A (p.Ser3060Thr)
c.9109T>A (p.Ser3037Thr)
c.7513T>A (p.Ser2505Thr)
n.9649T>A
 gnomAD v4
6g.51748244A>CCA364421222PKHD1c.9372T>G (p.His3124Gln)
c.9243T>G (p.His3081Gln)
c.9234T>G (p.His3078Gln)
c.8730T>G (p.His2910Gln)
c.8661T>G (p.His2887Gln)
c.3447T>G (p.His1149Gln)
c.9297T>G (p.His3099Gln)
c.9177T>G (p.His3059Gln)
c.9108T>G (p.His3036Gln)
c.7512T>G (p.His2504Gln)
n.9648T>G
6g.51748244A>GCA450613809PKHD1c.9372T>C (p.His3124=)
c.9243T>C (p.His3081=)
c.9234T>C (p.His3078=)
c.8730T>C (p.His2910=)
c.8661T>C (p.His2887=)
c.3447T>C (p.His1149=)
c.9297T>C (p.His3099=)
c.9177T>C (p.His3059=)
c.9108T>C (p.His3036=)
c.7512T>C (p.His2504=)
n.9648T>C
6g.51748244A>TCA364421224PKHD1c.9372T>A (p.His3124Gln)
c.9243T>A (p.His3081Gln)
c.9234T>A (p.His3078Gln)
c.8730T>A (p.His2910Gln)
c.8661T>A (p.His2887Gln)
c.3447T>A (p.His1149Gln)
c.9297T>A (p.His3099Gln)
c.9177T>A (p.His3059Gln)
c.9108T>A (p.His3036Gln)
c.7512T>A (p.His2504Gln)
n.9648T>A
 gnomAD v4
6g.51748245T>ACA364421226PKHD1c.9371A>T (p.His3124Leu)
c.9242A>T (p.His3081Leu)
c.9233A>T (p.His3078Leu)
c.8729A>T (p.His2910Leu)
c.8660A>T (p.His2887Leu)
c.3446A>T (p.His1149Leu)
c.9296A>T (p.His3099Leu)
c.9176A>T (p.His3059Leu)
c.9107A>T (p.His3036Leu)
c.7511A>T (p.His2504Leu)
n.9647A>T
6g.51748245T>CCA3851397PKHD1c.9371A>G (p.His3124Arg)
c.9242A>G (p.His3081Arg)
c.9233A>G (p.His3078Arg)
c.8729A>G (p.His2910Arg)
c.8660A>G (p.His2887Arg)
c.3446A>G (p.His1149Arg)
c.9296A>G (p.His3099Arg)
c.9176A>G (p.His3059Arg)
c.9107A>G (p.His3036Arg)
c.7511A>G (p.His2504Arg)
n.9647A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748245T>GCA364421229PKHD1c.9371A>C (p.His3124Pro)
c.9242A>C (p.His3081Pro)
c.9233A>C (p.His3078Pro)
c.8729A>C (p.His2910Pro)
c.8660A>C (p.His2887Pro)
c.3446A>C (p.His1149Pro)
c.9296A>C (p.His3099Pro)
c.9176A>C (p.His3059Pro)
c.9107A>C (p.His3036Pro)
c.7511A>C (p.His2504Pro)
n.9647A>C
 ClinVar dbSNP
6g.51748245T=CA1628502841PKHD1c.9371A= (p.His3124=)
c.9242A= (p.His3081=)
c.9233A= (p.His3078=)
c.8729A= (p.His2910=)
c.8660A= (p.His2887=)
c.3446A= (p.His1149=)
c.9296A= (p.His3099=)
c.9176A= (p.His3059=)
c.9107A= (p.His3036=)
c.7511A= (p.His2504=)
n.9647A=
6g.51748246G>ACA364421233PKHD1c.9370C>T (p.His3124Tyr)
c.9241C>T (p.His3081Tyr)
c.9232C>T (p.His3078Tyr)
c.8728C>T (p.His2910Tyr)
c.8659C>T (p.His2887Tyr)
c.3445C>T (p.His1149Tyr)
c.9295C>T (p.His3099Tyr)
c.9175C>T (p.His3059Tyr)
c.9106C>T (p.His3036Tyr)
c.7510C>T (p.His2504Tyr)
n.9646C>T
 ClinVar dbSNP
6g.51748246G>CCA364421234PKHD1c.9370C>G (p.His3124Asp)
c.9241C>G (p.His3081Asp)
c.9232C>G (p.His3078Asp)
c.8728C>G (p.His2910Asp)
c.8659C>G (p.His2887Asp)
c.3445C>G (p.His1149Asp)
c.9295C>G (p.His3099Asp)
c.9175C>G (p.His3059Asp)
c.9106C>G (p.His3036Asp)
c.7510C>G (p.His2504Asp)
n.9646C>G
6g.51748246G=CA1628502849PKHD1c.9370C= (p.His3124=)
c.9241C= (p.His3081=)
c.9232C= (p.His3078=)
c.8728C= (p.His2910=)
c.8659C= (p.His2887=)
c.3445C= (p.His1149=)
c.9295C= (p.His3099=)
c.9175C= (p.His3059=)
c.9106C= (p.His3036=)
c.7510C= (p.His2504=)
n.9646C=
6g.51748246G>TCA364421236PKHD1c.9370C>A (p.His3124Asn)
c.9241C>A (p.His3081Asn)
c.9232C>A (p.His3078Asn)
c.8728C>A (p.His2910Asn)
c.8659C>A (p.His2887Asn)
c.3445C>A (p.His1149Asn)
c.9295C>A (p.His3099Asn)
c.9175C>A (p.His3059Asn)
c.9106C>A (p.His3036Asn)
c.7510C>A (p.His2504Asn)
n.9646C>A
6g.51748247C>ACA3851398PKHD1c.9369G>T (p.Ala3123=)
c.9240G>T (p.Ala3080=)
c.9231G>T (p.Ala3077=)
c.8727G>T (p.Ala2909=)
c.8658G>T (p.Ala2886=)
c.3444G>T (p.Ala1148=)
c.9294G>T (p.Ala3098=)
c.9174G>T (p.Ala3058=)
c.9105G>T (p.Ala3035=)
c.7509G>T (p.Ala2503=)
n.9645G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748247C=CA1628502855PKHD1c.9369G= (p.Ala3123=)
c.9240G= (p.Ala3080=)
c.9231G= (p.Ala3077=)
c.8727G= (p.Ala2909=)
c.8658G= (p.Ala2886=)
c.3444G= (p.Ala1148=)
c.9294G= (p.Ala3098=)
c.9174G= (p.Ala3058=)
c.9105G= (p.Ala3035=)
c.7509G= (p.Ala2503=)
n.9645G=
6g.51748247C>GCA450613813PKHD1c.9369G>C (p.Ala3123=)
c.9240G>C (p.Ala3080=)
c.9231G>C (p.Ala3077=)
c.8727G>C (p.Ala2909=)
c.8658G>C (p.Ala2886=)
c.3444G>C (p.Ala1148=)
c.9294G>C (p.Ala3098=)
c.9174G>C (p.Ala3058=)
c.9105G>C (p.Ala3035=)
c.7509G>C (p.Ala2503=)
n.9645G>C
 gnomAD v4
6g.51748247C>TCA3851399PKHD1c.9369G>A (p.Ala3123=)
c.9240G>A (p.Ala3080=)
c.9231G>A (p.Ala3077=)
c.8727G>A (p.Ala2909=)
c.8658G>A (p.Ala2886=)
c.3444G>A (p.Ala1148=)
c.9294G>A (p.Ala3098=)
c.9174G>A (p.Ala3058=)
c.9105G>A (p.Ala3035=)
c.7509G>A (p.Ala2503=)
n.9645G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51748248G>ACA3851400PKHD1c.9368C>T (p.Ala3123Val)
c.9239C>T (p.Ala3080Val)
c.9230C>T (p.Ala3077Val)
c.8726C>T (p.Ala2909Val)
c.8657C>T (p.Ala2886Val)
c.3443C>T (p.Ala1148Val)
c.9293C>T (p.Ala3098Val)
c.9173C>T (p.Ala3058Val)
c.9104C>T (p.Ala3035Val)
c.7508C>T (p.Ala2503Val)
n.9644C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.51748248G>CCA364421244PKHD1c.9368C>G (p.Ala3123Gly)
c.9239C>G (p.Ala3080Gly)
c.9230C>G (p.Ala3077Gly)
c.8726C>G (p.Ala2909Gly)
c.8657C>G (p.Ala2886Gly)
c.3443C>G (p.Ala1148Gly)
c.9293C>G (p.Ala3098Gly)
c.9173C>G (p.Ala3058Gly)
c.9104C>G (p.Ala3035Gly)
c.7508C>G (p.Ala2503Gly)
n.9644C>G
6g.51748248G=CA1628502872PKHD1c.9368C= (p.Ala3123=)
c.9239C= (p.Ala3080=)
c.9230C= (p.Ala3077=)
c.8726C= (p.Ala2909=)
c.8657C= (p.Ala2886=)
c.3443C= (p.Ala1148=)
c.9293C= (p.Ala3098=)
c.9173C= (p.Ala3058=)
c.9104C= (p.Ala3035=)
c.7508C= (p.Ala2503=)
n.9644C=
6g.51748248G>TCA364421242PKHD1c.9368C>A (p.Ala3123Glu)
c.9239C>A (p.Ala3080Glu)
c.9230C>A (p.Ala3077Glu)
c.8726C>A (p.Ala2909Glu)
c.8657C>A (p.Ala2886Glu)
c.3443C>A (p.Ala1148Glu)
c.9293C>A (p.Ala3098Glu)
c.9173C>A (p.Ala3058Glu)
c.9104C>A (p.Ala3035Glu)
c.7508C>A (p.Ala2503Glu)
n.9644C>A
6g.51748249C>ACA364421248PKHD1c.9367G>T (p.Ala3123Ser)
c.9238G>T (p.Ala3080Ser)
c.9229G>T (p.Ala3077Ser)
c.8725G>T (p.Ala2909Ser)
c.8656G>T (p.Ala2886Ser)
c.3442G>T (p.Ala1148Ser)
c.9292G>T (p.Ala3098Ser)
c.9172G>T (p.Ala3058Ser)
c.9103G>T (p.Ala3035Ser)
c.7507G>T (p.Ala2503Ser)
n.9643G>T
6g.51748249C>GCA364421249PKHD1c.9367G>C (p.Ala3123Pro)
c.9238G>C (p.Ala3080Pro)
c.9229G>C (p.Ala3077Pro)
c.8725G>C (p.Ala2909Pro)
c.8656G>C (p.Ala2886Pro)
c.3442G>C (p.Ala1148Pro)
c.9292G>C (p.Ala3098Pro)
c.9172G>C (p.Ala3058Pro)
c.9103G>C (p.Ala3035Pro)
c.7507G>C (p.Ala2503Pro)
n.9643G>C
6g.51748249C>TCA364421251PKHD1c.9367G>A (p.Ala3123Thr)
c.9238G>A (p.Ala3080Thr)
c.9229G>A (p.Ala3077Thr)
c.8725G>A (p.Ala2909Thr)
c.8656G>A (p.Ala2886Thr)
c.3442G>A (p.Ala1148Thr)
c.9292G>A (p.Ala3098Thr)
c.9172G>A (p.Ala3058Thr)
c.9103G>A (p.Ala3035Thr)
c.7507G>A (p.Ala2503Thr)
n.9643G>A
6g.51748250C>ACA450613819PKHD1c.9366G>T (p.Val3122=)
c.9237G>T (p.Val3079=)
c.9228G>T (p.Val3076=)
c.8724G>T (p.Val2908=)
c.8655G>T (p.Val2885=)
c.3441G>T (p.Val1147=)
c.9291G>T (p.Val3097=)
c.9171G>T (p.Val3057=)
c.9102G>T (p.Val3034=)
c.7506G>T (p.Val2502=)
n.9642G>T
6g.51748250C>GCA450613818PKHD1c.9366G>C (p.Val3122=)
c.9237G>C (p.Val3079=)
c.9228G>C (p.Val3076=)
c.8724G>C (p.Val2908=)
c.8655G>C (p.Val2885=)
c.3441G>C (p.Val1147=)
c.9291G>C (p.Val3097=)
c.9171G>C (p.Val3057=)
c.9102G>C (p.Val3034=)
c.7506G>C (p.Val2502=)
n.9642G>C
6g.51748250C>TCA450613817PKHD1c.9366G>A (p.Val3122=)
c.9237G>A (p.Val3079=)
c.9228G>A (p.Val3076=)
c.8724G>A (p.Val2908=)
c.8655G>A (p.Val2885=)
c.3441G>A (p.Val1147=)
c.9291G>A (p.Val3097=)
c.9171G>A (p.Val3057=)
c.9102G>A (p.Val3034=)
c.7506G>A (p.Val2502=)
n.9642G>A
6g.51748251A=CA1628502877PKHD1c.9365T= (p.Val3122=)
c.9236T= (p.Val3079=)
c.9227T= (p.Val3076=)
c.8723T= (p.Val2908=)
c.8654T= (p.Val2885=)
c.3440T= (p.Val1147=)
c.9290T= (p.Val3097=)
c.9170T= (p.Val3057=)
c.9101T= (p.Val3034=)
c.7505T= (p.Val2502=)
n.9641T=
6g.51748251A>CCA364421255PKHD1c.9365T>G (p.Val3122Gly)
c.9236T>G (p.Val3079Gly)
c.9227T>G (p.Val3076Gly)
c.8723T>G (p.Val2908Gly)
c.8654T>G (p.Val2885Gly)
c.3440T>G (p.Val1147Gly)
c.9290T>G (p.Val3097Gly)
c.9170T>G (p.Val3057Gly)
c.9101T>G (p.Val3034Gly)
c.7505T>G (p.Val2502Gly)
n.9641T>G
6g.51748251A>GCA3851401PKHD1c.9365T>C (p.Val3122Ala)
c.9236T>C (p.Val3079Ala)
c.9227T>C (p.Val3076Ala)
c.8723T>C (p.Val2908Ala)
c.8654T>C (p.Val2885Ala)
c.3440T>C (p.Val1147Ala)
c.9290T>C (p.Val3097Ala)
c.9170T>C (p.Val3057Ala)
c.9101T>C (p.Val3034Ala)
c.7505T>C (p.Val2502Ala)
n.9641T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748251A>TCA364421258PKHD1c.9365T>A (p.Val3122Glu)
c.9236T>A (p.Val3079Glu)
c.9227T>A (p.Val3076Glu)
c.8723T>A (p.Val2908Glu)
c.8654T>A (p.Val2885Glu)
c.3440T>A (p.Val1147Glu)
c.9290T>A (p.Val3097Glu)
c.9170T>A (p.Val3057Glu)
c.9101T>A (p.Val3034Glu)
c.7505T>A (p.Val2502Glu)
n.9641T>A
6g.51748252C>ACA364421261PKHD1c.9364G>T (p.Val3122Leu)
c.9235G>T (p.Val3079Leu)
c.9226G>T (p.Val3076Leu)
c.8722G>T (p.Val2908Leu)
c.8653G>T (p.Val2885Leu)
c.3439G>T (p.Val1147Leu)
c.9289G>T (p.Val3097Leu)
c.9169G>T (p.Val3057Leu)
c.9100G>T (p.Val3034Leu)
c.7504G>T (p.Val2502Leu)
n.9640G>T
 gnomAD v4
6g.51748252C=CA1628502882PKHD1c.9364G= (p.Val3122=)
c.9235G= (p.Val3079=)
c.9226G= (p.Val3076=)
c.8722G= (p.Val2908=)
c.8653G= (p.Val2885=)
c.3439G= (p.Val1147=)
c.9289G= (p.Val3097=)
c.9169G= (p.Val3057=)
c.9100G= (p.Val3034=)
c.7504G= (p.Val2502=)
n.9640G=
6g.51748252C>GCA364421263PKHD1c.9364G>C (p.Val3122Leu)
c.9235G>C (p.Val3079Leu)
c.9226G>C (p.Val3076Leu)
c.8722G>C (p.Val2908Leu)
c.8653G>C (p.Val2885Leu)
c.3439G>C (p.Val1147Leu)
c.9289G>C (p.Val3097Leu)
c.9169G>C (p.Val3057Leu)
c.9100G>C (p.Val3034Leu)
c.7504G>C (p.Val2502Leu)
n.9640G>C
6g.51748252C>TCA364421265PKHD1c.9364G>A (p.Val3122Met)
c.9235G>A (p.Val3079Met)
c.9226G>A (p.Val3076Met)
c.8722G>A (p.Val2908Met)
c.8653G>A (p.Val2885Met)
c.3439G>A (p.Val1147Met)
c.9289G>A (p.Val3097Met)
c.9169G>A (p.Val3057Met)
c.9100G>A (p.Val3034Met)
c.7504G>A (p.Val2502Met)
n.9640G>A
 dbSNP gnomAD v2 gnomAD v4
6g.51748253A=CA1628502893PKHD1c.9363T= (p.Asn3121=)
c.9234T= (p.Asn3078=)
c.9225T= (p.Asn3075=)
c.8721T= (p.Asn2907=)
c.8652T= (p.Asn2884=)
c.3438T= (p.Asn1146=)
c.9288T= (p.Asn3096=)
c.9168T= (p.Asn3056=)
c.9099T= (p.Asn3033=)
c.7503T= (p.Asn2501=)
n.9639T=
6g.51748253A>CCA364421267PKHD1c.9363T>G (p.Asn3121Lys)
c.9234T>G (p.Asn3078Lys)
c.9225T>G (p.Asn3075Lys)
c.8721T>G (p.Asn2907Lys)
c.8652T>G (p.Asn2884Lys)
c.3438T>G (p.Asn1146Lys)
c.9288T>G (p.Asn3096Lys)
c.9168T>G (p.Asn3056Lys)
c.9099T>G (p.Asn3033Lys)
c.7503T>G (p.Asn2501Lys)
n.9639T>G
6g.51748253A>GCA246494PKHD1c.9363T>C (p.Asn3121=)
c.9234T>C (p.Asn3078=)
c.9225T>C (p.Asn3075=)
c.8721T>C (p.Asn2907=)
c.8652T>C (p.Asn2884=)
c.3438T>C (p.Asn1146=)
c.9288T>C (p.Asn3096=)
c.9168T>C (p.Asn3056=)
c.9099T>C (p.Asn3033=)
c.7503T>C (p.Asn2501=)
n.9639T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748253A>TCA364421273PKHD1c.9363T>A (p.Asn3121Lys)
c.9234T>A (p.Asn3078Lys)
c.9225T>A (p.Asn3075Lys)
c.8721T>A (p.Asn2907Lys)
c.8652T>A (p.Asn2884Lys)
c.3438T>A (p.Asn1146Lys)
c.9288T>A (p.Asn3096Lys)
c.9168T>A (p.Asn3056Lys)
c.9099T>A (p.Asn3033Lys)
c.7503T>A (p.Asn2501Lys)
n.9639T>A
6g.51748254T>ACA364421280PKHD1c.9362A>T (p.Asn3121Ile)
c.9233A>T (p.Asn3078Ile)
c.9224A>T (p.Asn3075Ile)
c.8720A>T (p.Asn2907Ile)
c.8651A>T (p.Asn2884Ile)
c.3437A>T (p.Asn1146Ile)
c.9287A>T (p.Asn3096Ile)
c.9167A>T (p.Asn3056Ile)
c.9098A>T (p.Asn3033Ile)
c.7502A>T (p.Asn2501Ile)
n.9638A>T
 gnomAD v4
6g.51748254T>CCA364421281PKHD1c.9362A>G (p.Asn3121Ser)
c.9233A>G (p.Asn3078Ser)
c.9224A>G (p.Asn3075Ser)
c.8720A>G (p.Asn2907Ser)
c.8651A>G (p.Asn2884Ser)
c.3437A>G (p.Asn1146Ser)
c.9287A>G (p.Asn3096Ser)
c.9167A>G (p.Asn3056Ser)
c.9098A>G (p.Asn3033Ser)
c.7502A>G (p.Asn2501Ser)
n.9638A>G
 dbSNP gnomAD v4
6g.51748254T>GCA364421277PKHD1c.9362A>C (p.Asn3121Thr)
c.9233A>C (p.Asn3078Thr)
c.9224A>C (p.Asn3075Thr)
c.8720A>C (p.Asn2907Thr)
c.8651A>C (p.Asn2884Thr)
c.3437A>C (p.Asn1146Thr)
c.9287A>C (p.Asn3096Thr)
c.9167A>C (p.Asn3056Thr)
c.9098A>C (p.Asn3033Thr)
c.7502A>C (p.Asn2501Thr)
n.9638A>C
6g.51748254T=CA1628502897PKHD1c.9362A= (p.Asn3121=)
c.9233A= (p.Asn3078=)
c.9224A= (p.Asn3075=)
c.8720A= (p.Asn2907=)
c.8651A= (p.Asn2884=)
c.3437A= (p.Asn1146=)
c.9287A= (p.Asn3096=)
c.9167A= (p.Asn3056=)
c.9098A= (p.Asn3033=)
c.7502A= (p.Asn2501=)
n.9638A=
6g.51748255T>ACA364421285PKHD1c.9361A>T (p.Asn3121Tyr)
c.9232A>T (p.Asn3078Tyr)
c.9223A>T (p.Asn3075Tyr)
c.8719A>T (p.Asn2907Tyr)
c.8650A>T (p.Asn2884Tyr)
c.3436A>T (p.Asn1146Tyr)
c.9286A>T (p.Asn3096Tyr)
c.9166A>T (p.Asn3056Tyr)
c.9097A>T (p.Asn3033Tyr)
c.7501A>T (p.Asn2501Tyr)
n.9637A>T
6g.51748255T>CCA3851402PKHD1c.9361A>G (p.Asn3121Asp)
c.9232A>G (p.Asn3078Asp)
c.9223A>G (p.Asn3075Asp)
c.8719A>G (p.Asn2907Asp)
c.8650A>G (p.Asn2884Asp)
c.3436A>G (p.Asn1146Asp)
c.9286A>G (p.Asn3096Asp)
c.9166A>G (p.Asn3056Asp)
c.9097A>G (p.Asn3033Asp)
c.7501A>G (p.Asn2501Asp)
n.9637A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748255T>GCA364421289PKHD1c.9361A>C (p.Asn3121His)
c.9232A>C (p.Asn3078His)
c.9223A>C (p.Asn3075His)
c.8719A>C (p.Asn2907His)
c.8650A>C (p.Asn2884His)
c.3436A>C (p.Asn1146His)
c.9286A>C (p.Asn3096His)
c.9166A>C (p.Asn3056His)
c.9097A>C (p.Asn3033His)
c.7501A>C (p.Asn2501His)
n.9637A>C
6g.51748255T=CA1628502902PKHD1c.9361A= (p.Asn3121=)
c.9232A= (p.Asn3078=)
c.9223A= (p.Asn3075=)
c.8719A= (p.Asn2907=)
c.8650A= (p.Asn2884=)
c.3436A= (p.Asn1146=)
c.9286A= (p.Asn3096=)
c.9166A= (p.Asn3056=)
c.9097A= (p.Asn3033=)
c.7501A= (p.Asn2501=)
n.9637A=
6g.51748256G>ACA450613823PKHD1c.9360C>T (p.Asp3120=)
c.9231C>T (p.Asp3077=)
c.9222C>T (p.Asp3074=)
c.8718C>T (p.Asp2906=)
c.8649C>T (p.Asp2883=)
c.3435C>T (p.Asp1145=)
c.9285C>T (p.Asp3095=)
c.9165C>T (p.Asp3055=)
c.9096C>T (p.Asp3032=)
c.7500C>T (p.Asp2500=)
n.9636C>T
6g.51748256G>CCA364421292PKHD1c.9360C>G (p.Asp3120Glu)
c.9231C>G (p.Asp3077Glu)
c.9222C>G (p.Asp3074Glu)
c.8718C>G (p.Asp2906Glu)
c.8649C>G (p.Asp2883Glu)
c.3435C>G (p.Asp1145Glu)
c.9285C>G (p.Asp3095Glu)
c.9165C>G (p.Asp3055Glu)
c.9096C>G (p.Asp3032Glu)
c.7500C>G (p.Asp2500Glu)
n.9636C>G
6g.51748256G>TCA364421294PKHD1c.9360C>A (p.Asp3120Glu)
c.9231C>A (p.Asp3077Glu)
c.9222C>A (p.Asp3074Glu)
c.8718C>A (p.Asp2906Glu)
c.8649C>A (p.Asp2883Glu)
c.3435C>A (p.Asp1145Glu)
c.9285C>A (p.Asp3095Glu)
c.9165C>A (p.Asp3055Glu)
c.9096C>A (p.Asp3032Glu)
c.7500C>A (p.Asp2500Glu)
n.9636C>A
 gnomAD v4
6g.51748257T>ACA364421301PKHD1c.9359A>T (p.Asp3120Val)
c.9230A>T (p.Asp3077Val)
c.9221A>T (p.Asp3074Val)
c.8717A>T (p.Asp2906Val)
c.8648A>T (p.Asp2883Val)
c.3434A>T (p.Asp1145Val)
c.9284A>T (p.Asp3095Val)
c.9164A>T (p.Asp3055Val)
c.9095A>T (p.Asp3032Val)
c.7499A>T (p.Asp2500Val)
n.9635A>T
6g.51748257T>CCA364421299PKHD1c.9359A>G (p.Asp3120Gly)
c.9230A>G (p.Asp3077Gly)
c.9221A>G (p.Asp3074Gly)
c.8717A>G (p.Asp2906Gly)
c.8648A>G (p.Asp2883Gly)
c.3434A>G (p.Asp1145Gly)
c.9284A>G (p.Asp3095Gly)
c.9164A>G (p.Asp3055Gly)
c.9095A>G (p.Asp3032Gly)
c.7499A>G (p.Asp2500Gly)
n.9635A>G
6g.51748257T>GCA364421297PKHD1c.9359A>C (p.Asp3120Ala)
c.9230A>C (p.Asp3077Ala)
c.9221A>C (p.Asp3074Ala)
c.8717A>C (p.Asp2906Ala)
c.8648A>C (p.Asp2883Ala)
c.3434A>C (p.Asp1145Ala)
c.9284A>C (p.Asp3095Ala)
c.9164A>C (p.Asp3055Ala)
c.9095A>C (p.Asp3032Ala)
c.7499A>C (p.Asp2500Ala)
n.9635A>C
6g.51748258C>ACA364421303PKHD1c.9358G>T (p.Asp3120Tyr)
c.9229G>T (p.Asp3077Tyr)
c.9220G>T (p.Asp3074Tyr)
c.8716G>T (p.Asp2906Tyr)
c.8647G>T (p.Asp2883Tyr)
c.3433G>T (p.Asp1145Tyr)
c.9283G>T (p.Asp3095Tyr)
c.9163G>T (p.Asp3055Tyr)
c.9094G>T (p.Asp3032Tyr)
c.7498G>T (p.Asp2500Tyr)
n.9634G>T
6g.51748258C=CA1628502907PKHD1c.9358G= (p.Asp3120=)
c.9229G= (p.Asp3077=)
c.9220G= (p.Asp3074=)
c.8716G= (p.Asp2906=)
c.8647G= (p.Asp2883=)
c.3433G= (p.Asp1145=)
c.9283G= (p.Asp3095=)
c.9163G= (p.Asp3055=)
c.9094G= (p.Asp3032=)
c.7498G= (p.Asp2500=)
n.9634G=
6g.51748258C>GCA364421305PKHD1c.9358G>C (p.Asp3120His)
c.9229G>C (p.Asp3077His)
c.9220G>C (p.Asp3074His)
c.8716G>C (p.Asp2906His)
c.8647G>C (p.Asp2883His)
c.3433G>C (p.Asp1145His)
c.9283G>C (p.Asp3095His)
c.9163G>C (p.Asp3055His)
c.9094G>C (p.Asp3032His)
c.7498G>C (p.Asp2500His)
n.9634G>C
6g.51748258C>TCA364421307PKHD1c.9358G>A (p.Asp3120Asn)
c.9229G>A (p.Asp3077Asn)
c.9220G>A (p.Asp3074Asn)
c.8716G>A (p.Asp2906Asn)
c.8647G>A (p.Asp2883Asn)
c.3433G>A (p.Asp1145Asn)
c.9283G>A (p.Asp3095Asn)
c.9163G>A (p.Asp3055Asn)
c.9094G>A (p.Asp3032Asn)
c.7498G>A (p.Asp2500Asn)
n.9634G>A
 dbSNP
6g.51748259A>CCA450613825PKHD1c.9357T>G (p.Ser3119=)
c.9228T>G (p.Ser3076=)
c.9219T>G (p.Ser3073=)
c.8715T>G (p.Ser2905=)
c.8646T>G (p.Ser2882=)
c.3432T>G (p.Ser1144=)
c.9282T>G (p.Ser3094=)
c.9162T>G (p.Ser3054=)
c.9093T>G (p.Ser3031=)
c.7497T>G (p.Ser2499=)
n.9633T>G
6g.51748259A>GCA450613826PKHD1c.9357T>C (p.Ser3119=)
c.9228T>C (p.Ser3076=)
c.9219T>C (p.Ser3073=)
c.8715T>C (p.Ser2905=)
c.8646T>C (p.Ser2882=)
c.3432T>C (p.Ser1144=)
c.9282T>C (p.Ser3094=)
c.9162T>C (p.Ser3054=)
c.9093T>C (p.Ser3031=)
c.7497T>C (p.Ser2499=)
n.9633T>C
6g.51748259A>TCA450613827PKHD1c.9357T>A (p.Ser3119=)
c.9228T>A (p.Ser3076=)
c.9219T>A (p.Ser3073=)
c.8715T>A (p.Ser2905=)
c.8646T>A (p.Ser2882=)
c.3432T>A (p.Ser1144=)
c.9282T>A (p.Ser3094=)
c.9162T>A (p.Ser3054=)
c.9093T>A (p.Ser3031=)
c.7497T>A (p.Ser2499=)
n.9633T>A
6g.51748260G>ACA3851403PKHD1c.9356C>T (p.Ser3119Phe)
c.9227C>T (p.Ser3076Phe)
c.9218C>T (p.Ser3073Phe)
c.8714C>T (p.Ser2905Phe)
c.8645C>T (p.Ser2882Phe)
c.3431C>T (p.Ser1144Phe)
c.9281C>T (p.Ser3094Phe)
c.9161C>T (p.Ser3054Phe)
c.9092C>T (p.Ser3031Phe)
c.7496C>T (p.Ser2499Phe)
n.9632C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748260G>CCA364421312PKHD1c.9356C>G (p.Ser3119Cys)
c.9227C>G (p.Ser3076Cys)
c.9218C>G (p.Ser3073Cys)
c.8714C>G (p.Ser2905Cys)
c.8645C>G (p.Ser2882Cys)
c.3431C>G (p.Ser1144Cys)
c.9281C>G (p.Ser3094Cys)
c.9161C>G (p.Ser3054Cys)
c.9092C>G (p.Ser3031Cys)
c.7496C>G (p.Ser2499Cys)
n.9632C>G
 dbSNP
6g.51748260G=CA1628502910PKHD1c.9356C= (p.Ser3119=)
c.9227C= (p.Ser3076=)
c.9218C= (p.Ser3073=)
c.8714C= (p.Ser2905=)
c.8645C= (p.Ser2882=)
c.3431C= (p.Ser1144=)
c.9281C= (p.Ser3094=)
c.9161C= (p.Ser3054=)
c.9092C= (p.Ser3031=)
c.7496C= (p.Ser2499=)
n.9632C=
6g.51748260G>TCA364421314PKHD1c.9356C>A (p.Ser3119Tyr)
c.9227C>A (p.Ser3076Tyr)
c.9218C>A (p.Ser3073Tyr)
c.8714C>A (p.Ser2905Tyr)
c.8645C>A (p.Ser2882Tyr)
c.3431C>A (p.Ser1144Tyr)
c.9281C>A (p.Ser3094Tyr)
c.9161C>A (p.Ser3054Tyr)
c.9092C>A (p.Ser3031Tyr)
c.7496C>A (p.Ser2499Tyr)
n.9632C>A
6g.51748261A=CA1628502913PKHD1c.9355T= (p.Ser3119=)
c.9226T= (p.Ser3076=)
c.9217T= (p.Ser3073=)
c.8713T= (p.Ser2905=)
c.8644T= (p.Ser2882=)
c.3430T= (p.Ser1144=)
c.9280T= (p.Ser3094=)
c.9160T= (p.Ser3054=)
c.9091T= (p.Ser3031=)
c.7495T= (p.Ser2499=)
n.9631T=
6g.51748261A>CCA364421317PKHD1c.9355T>G (p.Ser3119Ala)
c.9226T>G (p.Ser3076Ala)
c.9217T>G (p.Ser3073Ala)
c.8713T>G (p.Ser2905Ala)
c.8644T>G (p.Ser2882Ala)
c.3430T>G (p.Ser1144Ala)
c.9280T>G (p.Ser3094Ala)
c.9160T>G (p.Ser3054Ala)
c.9091T>G (p.Ser3031Ala)
c.7495T>G (p.Ser2499Ala)
n.9631T>G
 dbSNP
6g.51748261A>GCA364421321PKHD1c.9355T>C (p.Ser3119Pro)
c.9226T>C (p.Ser3076Pro)
c.9217T>C (p.Ser3073Pro)
c.8713T>C (p.Ser2905Pro)
c.8644T>C (p.Ser2882Pro)
c.3430T>C (p.Ser1144Pro)
c.9280T>C (p.Ser3094Pro)
c.9160T>C (p.Ser3054Pro)
c.9091T>C (p.Ser3031Pro)
c.7495T>C (p.Ser2499Pro)
n.9631T>C
6g.51748261A>TCA364421319PKHD1c.9355T>A (p.Ser3119Thr)
c.9226T>A (p.Ser3076Thr)
c.9217T>A (p.Ser3073Thr)
c.8713T>A (p.Ser2905Thr)
c.8644T>A (p.Ser2882Thr)
c.3430T>A (p.Ser1144Thr)
c.9280T>A (p.Ser3094Thr)
c.9160T>A (p.Ser3054Thr)
c.9091T>A (p.Ser3031Thr)
c.7495T>A (p.Ser2499Thr)
n.9631T>A
6g.51748262C>ACA364421323PKHD1c.9354G>T (p.Trp3118Cys)
c.9225G>T (p.Trp3075Cys)
c.9216G>T (p.Trp3072Cys)
c.8712G>T (p.Trp2904Cys)
c.8643G>T (p.Trp2881Cys)
c.3429G>T (p.Trp1143Cys)
c.9279G>T (p.Trp3093Cys)
c.9159G>T (p.Trp3053Cys)
c.9090G>T (p.Trp3030Cys)
c.7494G>T (p.Trp2498Cys)
n.9630G>T
6g.51748262C>GCA364421325PKHD1c.9354G>C (p.Trp3118Cys)
c.9225G>C (p.Trp3075Cys)
c.9216G>C (p.Trp3072Cys)
c.8712G>C (p.Trp2904Cys)
c.8643G>C (p.Trp2881Cys)
c.3429G>C (p.Trp1143Cys)
c.9279G>C (p.Trp3093Cys)
c.9159G>C (p.Trp3053Cys)
c.9090G>C (p.Trp3030Cys)
c.7494G>C (p.Trp2498Cys)
n.9630G>C
6g.51748262C>TCA364421327PKHD1c.9354G>A (p.Trp3118Ter)
c.9225G>A (p.Trp3075Ter)
c.9216G>A (p.Trp3072Ter)
c.8712G>A (p.Trp2904Ter)
c.8643G>A (p.Trp2881Ter)
c.3429G>A (p.Trp1143Ter)
c.9279G>A (p.Trp3093Ter)
c.9159G>A (p.Trp3053Ter)
c.9090G>A (p.Trp3030Ter)
c.7494G>A (p.Trp2498Ter)
n.9630G>A
 gnomAD v4
6g.51748263C>ACA364421328PKHD1c.9353G>T (p.Trp3118Leu)
c.9224G>T (p.Trp3075Leu)
c.9215G>T (p.Trp3072Leu)
c.8711G>T (p.Trp2904Leu)
c.8642G>T (p.Trp2881Leu)
c.3428G>T (p.Trp1143Leu)
c.9278G>T (p.Trp3093Leu)
c.9158G>T (p.Trp3053Leu)
c.9089G>T (p.Trp3030Leu)
c.7493G>T (p.Trp2498Leu)
n.9629G>T
 dbSNP
6g.51748263C=CA1628502915PKHD1c.9353G= (p.Trp3118=)
c.9224G= (p.Trp3075=)
c.9215G= (p.Trp3072=)
c.8711G= (p.Trp2904=)
c.8642G= (p.Trp2881=)
c.3428G= (p.Trp1143=)
c.9278G= (p.Trp3093=)
c.9158G= (p.Trp3053=)
c.9089G= (p.Trp3030=)
c.7493G= (p.Trp2498=)
n.9629G=
6g.51748263C>GCA364421331PKHD1c.9353G>C (p.Trp3118Ser)
c.9224G>C (p.Trp3075Ser)
c.9215G>C (p.Trp3072Ser)
c.8711G>C (p.Trp2904Ser)
c.8642G>C (p.Trp2881Ser)
c.3428G>C (p.Trp1143Ser)
c.9278G>C (p.Trp3093Ser)
c.9158G>C (p.Trp3053Ser)
c.9089G>C (p.Trp3030Ser)
c.7493G>C (p.Trp2498Ser)
n.9629G>C
6g.51748263C>TCA364421333PKHD1c.9353G>A (p.Trp3118Ter)
c.9224G>A (p.Trp3075Ter)
c.9215G>A (p.Trp3072Ter)
c.8711G>A (p.Trp2904Ter)
c.8642G>A (p.Trp2881Ter)
c.3428G>A (p.Trp1143Ter)
c.9278G>A (p.Trp3093Ter)
c.9158G>A (p.Trp3053Ter)
c.9089G>A (p.Trp3030Ter)
c.7493G>A (p.Trp2498Ter)
n.9629G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51748264A>CCA364421336PKHD1c.9352T>G (p.Trp3118Gly)
c.9223T>G (p.Trp3075Gly)
c.9214T>G (p.Trp3072Gly)
c.8710T>G (p.Trp2904Gly)
c.8641T>G (p.Trp2881Gly)
c.3427T>G (p.Trp1143Gly)
c.9277T>G (p.Trp3093Gly)
c.9157T>G (p.Trp3053Gly)
c.9088T>G (p.Trp3030Gly)
c.7492T>G (p.Trp2498Gly)
n.9628T>G
6g.51748264A>GCA364421337PKHD1c.9352T>C (p.Trp3118Arg)
c.9223T>C (p.Trp3075Arg)
c.9214T>C (p.Trp3072Arg)
c.8710T>C (p.Trp2904Arg)
c.8641T>C (p.Trp2881Arg)
c.3427T>C (p.Trp1143Arg)
c.9277T>C (p.Trp3093Arg)
c.9157T>C (p.Trp3053Arg)
c.9088T>C (p.Trp3030Arg)
c.7492T>C (p.Trp2498Arg)
n.9628T>C
6g.51748264A>TCA364421339PKHD1c.9352T>A (p.Trp3118Arg)
c.9223T>A (p.Trp3075Arg)
c.9214T>A (p.Trp3072Arg)
c.8710T>A (p.Trp2904Arg)
c.8641T>A (p.Trp2881Arg)
c.3427T>A (p.Trp1143Arg)
c.9277T>A (p.Trp3093Arg)
c.9157T>A (p.Trp3053Arg)
c.9088T>A (p.Trp3030Arg)
c.7492T>A (p.Trp2498Arg)
n.9628T>A
 gnomAD v4
6g.51748265A>CCA450613830PKHD1c.9351T>G (p.Leu3117=)
c.9222T>G (p.Leu3074=)
c.9213T>G (p.Leu3071=)
c.8709T>G (p.Leu2903=)
c.8640T>G (p.Leu2880=)
c.3426T>G (p.Leu1142=)
c.9276T>G (p.Leu3092=)
c.9156T>G (p.Leu3052=)
c.9087T>G (p.Leu3029=)
c.7491T>G (p.Leu2497=)
n.9627T>G
6g.51748265A>GCA450613831PKHD1c.9351T>C (p.Leu3117=)
c.9222T>C (p.Leu3074=)
c.9213T>C (p.Leu3071=)
c.8709T>C (p.Leu2903=)
c.8640T>C (p.Leu2880=)
c.3426T>C (p.Leu1142=)
c.9276T>C (p.Leu3092=)
c.9156T>C (p.Leu3052=)
c.9087T>C (p.Leu3029=)
c.7491T>C (p.Leu2497=)
n.9627T>C
 gnomAD v4
6g.51748265A>TCA450613832PKHD1c.9351T>A (p.Leu3117=)
c.9222T>A (p.Leu3074=)
c.9213T>A (p.Leu3071=)
c.8709T>A (p.Leu2903=)
c.8640T>A (p.Leu2880=)
c.3426T>A (p.Leu1142=)
c.9276T>A (p.Leu3092=)
c.9156T>A (p.Leu3052=)
c.9087T>A (p.Leu3029=)
c.7491T>A (p.Leu2497=)
n.9627T>A
6g.51748266A>CCA364421342PKHD1c.9350T>G (p.Leu3117Arg)
c.9221T>G (p.Leu3074Arg)
c.9212T>G (p.Leu3071Arg)
c.8708T>G (p.Leu2903Arg)
c.8639T>G (p.Leu2880Arg)
c.3425T>G (p.Leu1142Arg)
c.9275T>G (p.Leu3092Arg)
c.9155T>G (p.Leu3052Arg)
c.9086T>G (p.Leu3029Arg)
c.7490T>G (p.Leu2497Arg)
n.9626T>G
6g.51748266A>GCA364421344PKHD1c.9350T>C (p.Leu3117Pro)
c.9221T>C (p.Leu3074Pro)
c.9212T>C (p.Leu3071Pro)
c.8708T>C (p.Leu2903Pro)
c.8639T>C (p.Leu2880Pro)
c.3425T>C (p.Leu1142Pro)
c.9275T>C (p.Leu3092Pro)
c.9155T>C (p.Leu3052Pro)
c.9086T>C (p.Leu3029Pro)
c.7490T>C (p.Leu2497Pro)
n.9626T>C
6g.51748266A>TCA364421346PKHD1c.9350T>A (p.Leu3117His)
c.9221T>A (p.Leu3074His)
c.9212T>A (p.Leu3071His)
c.8708T>A (p.Leu2903His)
c.8639T>A (p.Leu2880His)
c.3425T>A (p.Leu1142His)
c.9275T>A (p.Leu3092His)
c.9155T>A (p.Leu3052His)
c.9086T>A (p.Leu3029His)
c.7490T>A (p.Leu2497His)
n.9626T>A
6g.51748267G>ACA364421352PKHD1c.9349C>T (p.Leu3117Phe)
c.9220C>T (p.Leu3074Phe)
c.9211C>T (p.Leu3071Phe)
c.8707C>T (p.Leu2903Phe)
c.8638C>T (p.Leu2880Phe)
c.3424C>T (p.Leu1142Phe)
c.9274C>T (p.Leu3092Phe)
c.9154C>T (p.Leu3052Phe)
c.9085C>T (p.Leu3029Phe)
c.7489C>T (p.Leu2497Phe)
n.9625C>T
6g.51748267G>CCA364421354PKHD1c.9349C>G (p.Leu3117Val)
c.9220C>G (p.Leu3074Val)
c.9211C>G (p.Leu3071Val)
c.8707C>G (p.Leu2903Val)
c.8638C>G (p.Leu2880Val)
c.3424C>G (p.Leu1142Val)
c.9274C>G (p.Leu3092Val)
c.9154C>G (p.Leu3052Val)
c.9085C>G (p.Leu3029Val)
c.7489C>G (p.Leu2497Val)
n.9625C>G
6g.51748267G>TCA364421350PKHD1c.9349C>A (p.Leu3117Ile)
c.9220C>A (p.Leu3074Ile)
c.9211C>A (p.Leu3071Ile)
c.8707C>A (p.Leu2903Ile)
c.8638C>A (p.Leu2880Ile)
c.3424C>A (p.Leu1142Ile)
c.9274C>A (p.Leu3092Ile)
c.9154C>A (p.Leu3052Ile)
c.9085C>A (p.Leu3029Ile)
c.7489C>A (p.Leu2497Ile)
n.9625C>A
6g.51748267_51748268delinsGCCA1628502919PKHD1c.9348_9349delinsGC (p.Leu3116=)
c.9219_9220delinsGC (p.Leu3073=)
c.9210_9211delinsGC (p.Leu3070=)
c.8706_8707delinsGC (p.Leu2902=)
c.8637_8638delinsGC (p.Leu2879=)
c.3423_3424delinsGC (p.Leu1141=)
c.9273_9274delinsGC (p.Leu3091=)
c.9153_9154delinsGC (p.Leu3051=)
c.9084_9085delinsGC (p.Leu3028=)
c.7488_7489delinsGC (p.Leu2496=)
n.9624_9625delinsGC
6g.51748268delCA1139659317PKHD1c.9348del (p.Leu3117PhefsTer?)
c.9219del (p.Leu3074PhefsTer?)
c.9210del (p.Leu3071PhefsTer?)
c.8706del (p.Leu2903PhefsTer?)
c.8637del (p.Leu2880PhefsTer?)
c.3423del (p.Leu1142PhefsTer?)
c.9273del (p.Leu3092PhefsTer?)
c.9153del (p.Leu3052PhefsTer?)
c.9084del (p.Leu3029PhefsTer?)
c.7488del (p.Leu2497PhefsTer?)
n.9624del
 ClinVar dbSNP
6g.51748268C>ACA450613833PKHD1c.9348G>T (p.Leu3116=)
c.9219G>T (p.Leu3073=)
c.9210G>T (p.Leu3070=)
c.8706G>T (p.Leu2902=)
c.8637G>T (p.Leu2879=)
c.3423G>T (p.Leu1141=)
c.9273G>T (p.Leu3091=)
c.9153G>T (p.Leu3051=)
c.9084G>T (p.Leu3028=)
c.7488G>T (p.Leu2496=)
n.9624G>T
 dbSNP gnomAD v4 COSMIC COSMIC
6g.51748268C=CA1628502928PKHD1c.9348G= (p.Leu3116=)
c.9219G= (p.Leu3073=)
c.9210G= (p.Leu3070=)
c.8706G= (p.Leu2902=)
c.8637G= (p.Leu2879=)
c.3423G= (p.Leu1141=)
c.9273G= (p.Leu3091=)
c.9153G= (p.Leu3051=)
c.9084G= (p.Leu3028=)
c.7488G= (p.Leu2496=)
n.9624G=
6g.51748268C>GCA450613834PKHD1c.9348G>C (p.Leu3116=)
c.9219G>C (p.Leu3073=)
c.9210G>C (p.Leu3070=)
c.8706G>C (p.Leu2902=)
c.8637G>C (p.Leu2879=)
c.3423G>C (p.Leu1141=)
c.9273G>C (p.Leu3091=)
c.9153G>C (p.Leu3051=)
c.9084G>C (p.Leu3028=)
c.7488G>C (p.Leu2496=)
n.9624G>C
6g.51748268C>TCA3851404PKHD1c.9348G>A (p.Leu3116=)
c.9219G>A (p.Leu3073=)
c.9210G>A (p.Leu3070=)
c.8706G>A (p.Leu2902=)
c.8637G>A (p.Leu2879=)
c.3423G>A (p.Leu1141=)
c.9273G>A (p.Leu3091=)
c.9153G>A (p.Leu3051=)
c.9084G>A (p.Leu3028=)
c.7488G>A (p.Leu2496=)
n.9624G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748269delCA2695206428PKHD1c.9347del (p.Leu3116ArgfsTer?)
c.9218del (p.Leu3073ArgfsTer?)
c.9209del (p.Leu3070ArgfsTer?)
c.8705del (p.Leu2902ArgfsTer?)
c.8636del (p.Leu2879ArgfsTer?)
c.3422del (p.Leu1141ArgfsTer?)
c.9272del (p.Leu3091ArgfsTer?)
c.9152del (p.Leu3051ArgfsTer?)
c.9083del (p.Leu3028ArgfsTer?)
c.7487del (p.Leu2496ArgfsTer?)
n.9623del
6g.51748269A>CCA364421359PKHD1c.9347T>G (p.Leu3116Arg)
c.9218T>G (p.Leu3073Arg)
c.9209T>G (p.Leu3070Arg)
c.8705T>G (p.Leu2902Arg)
c.8636T>G (p.Leu2879Arg)
c.3422T>G (p.Leu1141Arg)
c.9272T>G (p.Leu3091Arg)
c.9152T>G (p.Leu3051Arg)
c.9083T>G (p.Leu3028Arg)
c.7487T>G (p.Leu2496Arg)
n.9623T>G
6g.51748269A>GCA364421361PKHD1c.9347T>C (p.Leu3116Pro)
c.9218T>C (p.Leu3073Pro)
c.9209T>C (p.Leu3070Pro)
c.8705T>C (p.Leu2902Pro)
c.8636T>C (p.Leu2879Pro)
c.3422T>C (p.Leu1141Pro)
c.9272T>C (p.Leu3091Pro)
c.9152T>C (p.Leu3051Pro)
c.9083T>C (p.Leu3028Pro)
c.7487T>C (p.Leu2496Pro)
n.9623T>C
6g.51748269A>TCA364421364PKHD1c.9347T>A (p.Leu3116Gln)
c.9218T>A (p.Leu3073Gln)
c.9209T>A (p.Leu3070Gln)
c.8705T>A (p.Leu2902Gln)
c.8636T>A (p.Leu2879Gln)
c.3422T>A (p.Leu1141Gln)
c.9272T>A (p.Leu3091Gln)
c.9152T>A (p.Leu3051Gln)
c.9083T>A (p.Leu3028Gln)
c.7487T>A (p.Leu2496Gln)
n.9623T>A
6g.51748270G>ACA450613835PKHD1c.9346C>T (p.Leu3116=)
c.9217C>T (p.Leu3073=)
c.9208C>T (p.Leu3070=)
c.8704C>T (p.Leu2902=)
c.8635C>T (p.Leu2879=)
c.3421C>T (p.Leu1141=)
c.9271C>T (p.Leu3091=)
c.9151C>T (p.Leu3051=)
c.9082C>T (p.Leu3028=)
c.7486C>T (p.Leu2496=)
n.9622C>T
6g.51748270G>CCA364421367PKHD1c.9346C>G (p.Leu3116Val)
c.9217C>G (p.Leu3073Val)
c.9208C>G (p.Leu3070Val)
c.8704C>G (p.Leu2902Val)
c.8635C>G (p.Leu2879Val)
c.3421C>G (p.Leu1141Val)
c.9271C>G (p.Leu3091Val)
c.9151C>G (p.Leu3051Val)
c.9082C>G (p.Leu3028Val)
c.7486C>G (p.Leu2496Val)
n.9622C>G
6g.51748270G>TCA364421368PKHD1c.9346C>A (p.Leu3116Met)
c.9217C>A (p.Leu3073Met)
c.9208C>A (p.Leu3070Met)
c.8704C>A (p.Leu2902Met)
c.8635C>A (p.Leu2879Met)
c.3421C>A (p.Leu1141Met)
c.9271C>A (p.Leu3091Met)
c.9151C>A (p.Leu3051Met)
c.9082C>A (p.Leu3028Met)
c.7486C>A (p.Leu2496Met)
n.9622C>A
6g.51748271T>ACA364421371PKHD1c.9345A>T (p.Glu3115Asp)
c.9216A>T (p.Glu3072Asp)
c.9207A>T (p.Glu3069Asp)
c.8703A>T (p.Glu2901Asp)
c.8634A>T (p.Glu2878Asp)
c.3420A>T (p.Glu1140Asp)
c.9270A>T (p.Glu3090Asp)
c.9150A>T (p.Glu3050Asp)
c.9081A>T (p.Glu3027Asp)
c.7485A>T (p.Glu2495Asp)
n.9621A>T
6g.51748271T>CCA3851405PKHD1c.9345A>G (p.Glu3115=)
c.9216A>G (p.Glu3072=)
c.9207A>G (p.Glu3069=)
c.8703A>G (p.Glu2901=)
c.8634A>G (p.Glu2878=)
c.3420A>G (p.Glu1140=)
c.9270A>G (p.Glu3090=)
c.9150A>G (p.Glu3050=)
c.9081A>G (p.Glu3027=)
c.7485A>G (p.Glu2495=)
n.9621A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748271T>GCA364421373PKHD1c.9345A>C (p.Glu3115Asp)
c.9216A>C (p.Glu3072Asp)
c.9207A>C (p.Glu3069Asp)
c.8703A>C (p.Glu2901Asp)
c.8634A>C (p.Glu2878Asp)
c.3420A>C (p.Glu1140Asp)
c.9270A>C (p.Glu3090Asp)
c.9150A>C (p.Glu3050Asp)
c.9081A>C (p.Glu3027Asp)
c.7485A>C (p.Glu2495Asp)
n.9621A>C
 gnomAD v4
6g.51748271T=CA1628502942PKHD1c.9345A= (p.Glu3115=)
c.9216A= (p.Glu3072=)
c.9207A= (p.Glu3069=)
c.8703A= (p.Glu2901=)
c.8634A= (p.Glu2878=)
c.3420A= (p.Glu1140=)
c.9270A= (p.Glu3090=)
c.9150A= (p.Glu3050=)
c.9081A= (p.Glu3027=)
c.7485A= (p.Glu2495=)
n.9621A=
6g.51748272delCA2695198859PKHD1c.9345del (p.Glu3115AspfsTer?)
c.9216del (p.Glu3072AspfsTer?)
c.9207del (p.Glu3069AspfsTer?)
c.8703del (p.Glu2901AspfsTer?)
c.8634del (p.Glu2878AspfsTer?)
c.3420del (p.Glu1140AspfsTer?)
c.9270del (p.Glu3090AspfsTer?)
c.9150del (p.Glu3050AspfsTer?)
c.9081del (p.Glu3027AspfsTer?)
c.7485del (p.Glu2495AspfsTer?)
n.9621del
 ClinVar
6g.51748272T>ACA364421377PKHD1c.9344A>T (p.Glu3115Val)
c.9215A>T (p.Glu3072Val)
c.9206A>T (p.Glu3069Val)
c.8702A>T (p.Glu2901Val)
c.8633A>T (p.Glu2878Val)
c.3419A>T (p.Glu1140Val)
c.9269A>T (p.Glu3090Val)
c.9149A>T (p.Glu3050Val)
c.9080A>T (p.Glu3027Val)
c.7484A>T (p.Glu2495Val)
n.9620A>T
6g.51748272T>CCA364421379PKHD1c.9344A>G (p.Glu3115Gly)
c.9215A>G (p.Glu3072Gly)
c.9206A>G (p.Glu3069Gly)
c.8702A>G (p.Glu2901Gly)
c.8633A>G (p.Glu2878Gly)
c.3419A>G (p.Glu1140Gly)
c.9269A>G (p.Glu3090Gly)
c.9149A>G (p.Glu3050Gly)
c.9080A>G (p.Glu3027Gly)
c.7484A>G (p.Glu2495Gly)
n.9620A>G
 dbSNP
6g.51748272T>GCA364421381PKHD1c.9344A>C (p.Glu3115Ala)
c.9215A>C (p.Glu3072Ala)
c.9206A>C (p.Glu3069Ala)
c.8702A>C (p.Glu2901Ala)
c.8633A>C (p.Glu2878Ala)
c.3419A>C (p.Glu1140Ala)
c.9269A>C (p.Glu3090Ala)
c.9149A>C (p.Glu3050Ala)
c.9080A>C (p.Glu3027Ala)
c.7484A>C (p.Glu2495Ala)
n.9620A>C
6g.51748272T=CA1628502946PKHD1c.9344A= (p.Glu3115=)
c.9215A= (p.Glu3072=)
c.9206A= (p.Glu3069=)
c.8702A= (p.Glu2901=)
c.8633A= (p.Glu2878=)
c.3419A= (p.Glu1140=)
c.9269A= (p.Glu3090=)
c.9149A= (p.Glu3050=)
c.9080A= (p.Glu3027=)
c.7484A= (p.Glu2495=)
n.9620A=
6g.51748273C>ACA364421383PKHD1c.9343G>T (p.Glu3115Ter)
c.9214G>T (p.Glu3072Ter)
c.9205G>T (p.Glu3069Ter)
c.8701G>T (p.Glu2901Ter)
c.8632G>T (p.Glu2878Ter)
c.3418G>T (p.Glu1140Ter)
c.9268G>T (p.Glu3090Ter)
c.9148G>T (p.Glu3050Ter)
c.9079G>T (p.Glu3027Ter)
c.7483G>T (p.Glu2495Ter)
n.9619G>T
6g.51748273C>GCA364421386PKHD1c.9343G>C (p.Glu3115Gln)
c.9214G>C (p.Glu3072Gln)
c.9205G>C (p.Glu3069Gln)
c.8701G>C (p.Glu2901Gln)
c.8632G>C (p.Glu2878Gln)
c.3418G>C (p.Glu1140Gln)
c.9268G>C (p.Glu3090Gln)
c.9148G>C (p.Glu3050Gln)
c.9079G>C (p.Glu3027Gln)
c.7483G>C (p.Glu2495Gln)
n.9619G>C
6g.51748273C>TCA364421389PKHD1c.9343G>A (p.Glu3115Lys)
c.9214G>A (p.Glu3072Lys)
c.9205G>A (p.Glu3069Lys)
c.8701G>A (p.Glu2901Lys)
c.8632G>A (p.Glu2878Lys)
c.3418G>A (p.Glu1140Lys)
c.9268G>A (p.Glu3090Lys)
c.9148G>A (p.Glu3050Lys)
c.9079G>A (p.Glu3027Lys)
c.7483G>A (p.Glu2495Lys)
n.9619G>A
6g.51748274A>CCA364421395PKHD1c.9342T>G (p.Cys3114Trp)
c.9213T>G (p.Cys3071Trp)
c.9204T>G (p.Cys3068Trp)
c.8700T>G (p.Cys2900Trp)
c.8631T>G (p.Cys2877Trp)
c.3417T>G (p.Cys1139Trp)
c.9267T>G (p.Cys3089Trp)
c.9147T>G (p.Cys3049Trp)
c.9078T>G (p.Cys3026Trp)
c.7482T>G (p.Cys2494Trp)
n.9618T>G
 gnomAD v4
6g.51748274A>GCA450613836PKHD1c.9342T>C (p.Cys3114=)
c.9213T>C (p.Cys3071=)
c.9204T>C (p.Cys3068=)
c.8700T>C (p.Cys2900=)
c.8631T>C (p.Cys2877=)
c.3417T>C (p.Cys1139=)
c.9267T>C (p.Cys3089=)
c.9147T>C (p.Cys3049=)
c.9078T>C (p.Cys3026=)
c.7482T>C (p.Cys2494=)
n.9618T>C
6g.51748274A>TCA364421393PKHD1c.9342T>A (p.Cys3114Ter)
c.9213T>A (p.Cys3071Ter)
c.9204T>A (p.Cys3068Ter)
c.8700T>A (p.Cys2900Ter)
c.8631T>A (p.Cys2877Ter)
c.3417T>A (p.Cys1139Ter)
c.9267T>A (p.Cys3089Ter)
c.9147T>A (p.Cys3049Ter)
c.9078T>A (p.Cys3026Ter)
c.7482T>A (p.Cys2494Ter)
n.9618T>A
6g.51748275C>ACA364421399PKHD1c.9341G>T (p.Cys3114Phe)
c.9212G>T (p.Cys3071Phe)
c.9203G>T (p.Cys3068Phe)
c.8699G>T (p.Cys2900Phe)
c.8630G>T (p.Cys2877Phe)
c.3416G>T (p.Cys1139Phe)
c.9266G>T (p.Cys3089Phe)
c.9146G>T (p.Cys3049Phe)
c.9077G>T (p.Cys3026Phe)
c.7481G>T (p.Cys2494Phe)
n.9617G>T
 dbSNP gnomAD v3 gnomAD v4
6g.51748275C=CA1628502950PKHD1c.9341G= (p.Cys3114=)
c.9212G= (p.Cys3071=)
c.9203G= (p.Cys3068=)
c.8699G= (p.Cys2900=)
c.8630G= (p.Cys2877=)
c.3416G= (p.Cys1139=)
c.9266G= (p.Cys3089=)
c.9146G= (p.Cys3049=)
c.9077G= (p.Cys3026=)
c.7481G= (p.Cys2494=)
n.9617G=
6g.51748275C>GCA364421401PKHD1c.9341G>C (p.Cys3114Ser)
c.9212G>C (p.Cys3071Ser)
c.9203G>C (p.Cys3068Ser)
c.8699G>C (p.Cys2900Ser)
c.8630G>C (p.Cys2877Ser)
c.3416G>C (p.Cys1139Ser)
c.9266G>C (p.Cys3089Ser)
c.9146G>C (p.Cys3049Ser)
c.9077G>C (p.Cys3026Ser)
c.7481G>C (p.Cys2494Ser)
n.9617G>C
6g.51748275C>TCA364421404PKHD1c.9341G>A (p.Cys3114Tyr)
c.9212G>A (p.Cys3071Tyr)
c.9203G>A (p.Cys3068Tyr)
c.8699G>A (p.Cys2900Tyr)
c.8630G>A (p.Cys2877Tyr)
c.3416G>A (p.Cys1139Tyr)
c.9266G>A (p.Cys3089Tyr)
c.9146G>A (p.Cys3049Tyr)
c.9077G>A (p.Cys3026Tyr)
c.7481G>A (p.Cys2494Tyr)
n.9617G>A
6g.51748276A>CCA364421407PKHD1c.9340T>G (p.Cys3114Gly)
c.9211T>G (p.Cys3071Gly)
c.9202T>G (p.Cys3068Gly)
c.8698T>G (p.Cys2900Gly)
c.8629T>G (p.Cys2877Gly)
c.3415T>G (p.Cys1139Gly)
c.9265T>G (p.Cys3089Gly)
c.9145T>G (p.Cys3049Gly)
c.9076T>G (p.Cys3026Gly)
c.7480T>G (p.Cys2494Gly)
n.9616T>G
6g.51748276A>GCA364421409PKHD1c.9340T>C (p.Cys3114Arg)
c.9211T>C (p.Cys3071Arg)
c.9202T>C (p.Cys3068Arg)
c.8698T>C (p.Cys2900Arg)
c.8629T>C (p.Cys2877Arg)
c.3415T>C (p.Cys1139Arg)
c.9265T>C (p.Cys3089Arg)
c.9145T>C (p.Cys3049Arg)
c.9076T>C (p.Cys3026Arg)
c.7480T>C (p.Cys2494Arg)
n.9616T>C
6g.51748276A>TCA364421411PKHD1c.9340T>A (p.Cys3114Ser)
c.9211T>A (p.Cys3071Ser)
c.9202T>A (p.Cys3068Ser)
c.8698T>A (p.Cys2900Ser)
c.8629T>A (p.Cys2877Ser)
c.3415T>A (p.Cys1139Ser)
c.9265T>A (p.Cys3089Ser)
c.9145T>A (p.Cys3049Ser)
c.9076T>A (p.Cys3026Ser)
c.7480T>A (p.Cys2494Ser)
n.9616T>A
6g.51748276_51748278delinsAAGCA1628502954PKHD1c.9338_9340delinsCTT (p.Ser3113=)
c.9209_9211delinsCTT (p.Ser3070=)
c.9200_9202delinsCTT (p.Ser3067=)
c.8696_8698delinsCTT (p.Ser2899=)
c.8627_8629delinsCTT (p.Ser2876=)
c.3413_3415delinsCTT (p.Ser1138=)
c.9263_9265delinsCTT (p.Ser3088=)
c.9143_9145delinsCTT (p.Ser3048=)
c.9074_9076delinsCTT (p.Ser3025=)
c.7478_7480delinsCTT (p.Ser2493=)
n.9614_9616delinsCTT
6g.51748277A=CA1628502957PKHD1c.9339T= (p.Ser3113=)
c.9210T= (p.Ser3070=)
c.9201T= (p.Ser3067=)
c.8697T= (p.Ser2899=)
c.8628T= (p.Ser2876=)
c.3414T= (p.Ser1138=)
c.9264T= (p.Ser3088=)
c.9144T= (p.Ser3048=)
c.9075T= (p.Ser3025=)
c.7479T= (p.Ser2493=)
n.9615T=
6g.51748277A>CCA450613837PKHD1c.9339T>G (p.Ser3113=)
c.9210T>G (p.Ser3070=)
c.9201T>G (p.Ser3067=)
c.8697T>G (p.Ser2899=)
c.8628T>G (p.Ser2876=)
c.3414T>G (p.Ser1138=)
c.9264T>G (p.Ser3088=)
c.9144T>G (p.Ser3048=)
c.9075T>G (p.Ser3025=)
c.7479T>G (p.Ser2493=)
n.9615T>G
 gnomAD v4
6g.51748277A>GCA3851406PKHD1c.9339T>C (p.Ser3113=)
c.9210T>C (p.Ser3070=)
c.9201T>C (p.Ser3067=)
c.8697T>C (p.Ser2899=)
c.8628T>C (p.Ser2876=)
c.3414T>C (p.Ser1138=)
c.9264T>C (p.Ser3088=)
c.9144T>C (p.Ser3048=)
c.9075T>C (p.Ser3025=)
c.7479T>C (p.Ser2493=)
n.9615T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748277A>TCA450613838PKHD1c.9339T>A (p.Ser3113=)
c.9210T>A (p.Ser3070=)
c.9201T>A (p.Ser3067=)
c.8697T>A (p.Ser2899=)
c.8628T>A (p.Ser2876=)
c.3414T>A (p.Ser1138=)
c.9264T>A (p.Ser3088=)
c.9144T>A (p.Ser3048=)
c.9075T>A (p.Ser3025=)
c.7479T>A (p.Ser2493=)
n.9615T>A
 ClinVar
6g.51748277_51748278delinsAGCA1628502958PKHD1c.9338_9339delinsCT (p.Ser3113=)
c.9209_9210delinsCT (p.Ser3070=)
c.9200_9201delinsCT (p.Ser3067=)
c.8696_8697delinsCT (p.Ser2899=)
c.8627_8628delinsCT (p.Ser2876=)
c.3413_3414delinsCT (p.Ser1138=)
c.9263_9264delinsCT (p.Ser3088=)
c.9143_9144delinsCT (p.Ser3048=)
c.9074_9075delinsCT (p.Ser3025=)
c.7478_7479delinsCT (p.Ser2493=)
n.9614_9615delinsCT
6g.51748279_51748280delCA138896366PKHD1c.9338_9339del (p.Ser3113LeufsTer2)
c.9209_9210del (p.Ser3070LeufsTer2)
c.9200_9201del (p.Ser3067LeufsTer2)
c.8696_8697del (p.Ser2899LeufsTer2)
c.8627_8628del (p.Ser2876LeufsTer2)
c.3413_3414del (p.Ser1138LeufsTer2)
c.9263_9264del (p.Ser3088LeufsTer2)
c.9143_9144del (p.Ser3048LeufsTer2)
c.9074_9075del (p.Ser3025LeufsTer2)
c.7478_7479del (p.Ser2493LeufsTer2)
n.9614_9615del
 dbSNP
6g.51748278delCA567636018PKHD1c.9338del (p.Ser3113PhefsTer?)
c.9209del (p.Ser3070PhefsTer?)
c.9200del (p.Ser3067PhefsTer?)
c.8696del (p.Ser2899PhefsTer?)
c.8627del (p.Ser2876PhefsTer?)
c.3413del (p.Ser1138PhefsTer?)
c.9263del (p.Ser3088PhefsTer?)
c.9143del (p.Ser3048PhefsTer?)
c.9074del (p.Ser3025PhefsTer?)
c.7478del (p.Ser2493PhefsTer?)
n.9614del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748278G>ACA364421416PKHD1c.9338C>T (p.Ser3113Phe)
c.9209C>T (p.Ser3070Phe)
c.9200C>T (p.Ser3067Phe)
c.8696C>T (p.Ser2899Phe)
c.8627C>T (p.Ser2876Phe)
c.3413C>T (p.Ser1138Phe)
c.9263C>T (p.Ser3088Phe)
c.9143C>T (p.Ser3048Phe)
c.9074C>T (p.Ser3025Phe)
c.7478C>T (p.Ser2493Phe)
n.9614C>T
 gnomAD v4
6g.51748278G>CCA364421419PKHD1c.9338C>G (p.Ser3113Cys)
c.9209C>G (p.Ser3070Cys)
c.9200C>G (p.Ser3067Cys)
c.8696C>G (p.Ser2899Cys)
c.8627C>G (p.Ser2876Cys)
c.3413C>G (p.Ser1138Cys)
c.9263C>G (p.Ser3088Cys)
c.9143C>G (p.Ser3048Cys)
c.9074C>G (p.Ser3025Cys)
c.7478C>G (p.Ser2493Cys)
n.9614C>G
6g.51748278G>TCA364421421PKHD1c.9338C>A (p.Ser3113Tyr)
c.9209C>A (p.Ser3070Tyr)
c.9200C>A (p.Ser3067Tyr)
c.8696C>A (p.Ser2899Tyr)
c.8627C>A (p.Ser2876Tyr)
c.3413C>A (p.Ser1138Tyr)
c.9263C>A (p.Ser3088Tyr)
c.9143C>A (p.Ser3048Tyr)
c.9074C>A (p.Ser3025Tyr)
c.7478C>A (p.Ser2493Tyr)
n.9614C>A
 COSMIC COSMIC
6g.51748279A>CCA364421423PKHD1c.9337T>G (p.Ser3113Ala)
c.9208T>G (p.Ser3070Ala)
c.9199T>G (p.Ser3067Ala)
c.8695T>G (p.Ser2899Ala)
c.8626T>G (p.Ser2876Ala)
c.3412T>G (p.Ser1138Ala)
c.9262T>G (p.Ser3088Ala)
c.9142T>G (p.Ser3048Ala)
c.9073T>G (p.Ser3025Ala)
c.7477T>G (p.Ser2493Ala)
n.9613T>G
6g.51748279A>GCA364421425PKHD1c.9337T>C (p.Ser3113Pro)
c.9208T>C (p.Ser3070Pro)
c.9199T>C (p.Ser3067Pro)
c.8695T>C (p.Ser2899Pro)
c.8626T>C (p.Ser2876Pro)
c.3412T>C (p.Ser1138Pro)
c.9262T>C (p.Ser3088Pro)
c.9142T>C (p.Ser3048Pro)
c.9073T>C (p.Ser3025Pro)
c.7477T>C (p.Ser2493Pro)
n.9613T>C
6g.51748279A>TCA364421427PKHD1c.9337T>A (p.Ser3113Thr)
c.9208T>A (p.Ser3070Thr)
c.9199T>A (p.Ser3067Thr)
c.8695T>A (p.Ser2899Thr)
c.8626T>A (p.Ser2876Thr)
c.3412T>A (p.Ser1138Thr)
c.9262T>A (p.Ser3088Thr)
c.9142T>A (p.Ser3048Thr)
c.9073T>A (p.Ser3025Thr)
c.7477T>A (p.Ser2493Thr)
n.9613T>A
6g.51748280G>ACA450613839PKHD1c.9336C>T (p.Ser3112=)
c.9207C>T (p.Ser3069=)
c.9198C>T (p.Ser3066=)
c.8694C>T (p.Ser2898=)
c.8625C>T (p.Ser2875=)
c.3411C>T (p.Ser1137=)
c.9261C>T (p.Ser3087=)
c.9141C>T (p.Ser3047=)
c.9072C>T (p.Ser3024=)
c.7476C>T (p.Ser2492=)
n.9612C>T
 dbSNP gnomAD v2 gnomAD v4
6g.51748280G>CCA450613840PKHD1c.9336C>G (p.Ser3112=)
c.9207C>G (p.Ser3069=)
c.9198C>G (p.Ser3066=)
c.8694C>G (p.Ser2898=)
c.8625C>G (p.Ser2875=)
c.3411C>G (p.Ser1137=)
c.9261C>G (p.Ser3087=)
c.9141C>G (p.Ser3047=)
c.9072C>G (p.Ser3024=)
c.7476C>G (p.Ser2492=)
n.9612C>G
6g.51748280G=CA1628502966PKHD1c.9336C= (p.Ser3112=)
c.9207C= (p.Ser3069=)
c.9198C= (p.Ser3066=)
c.8694C= (p.Ser2898=)
c.8625C= (p.Ser2875=)
c.3411C= (p.Ser1137=)
c.9261C= (p.Ser3087=)
c.9141C= (p.Ser3047=)
c.9072C= (p.Ser3024=)
c.7476C= (p.Ser2492=)
n.9612C=
6g.51748280G>TCA450613841PKHD1c.9336C>A (p.Ser3112=)
c.9207C>A (p.Ser3069=)
c.9198C>A (p.Ser3066=)
c.8694C>A (p.Ser2898=)
c.8625C>A (p.Ser2875=)
c.3411C>A (p.Ser1137=)
c.9261C>A (p.Ser3087=)
c.9141C>A (p.Ser3047=)
c.9072C>A (p.Ser3024=)
c.7476C>A (p.Ser2492=)
n.9612C>A
6g.51748281G>ACA364421434PKHD1c.9335C>T (p.Ser3112Phe)
c.9206C>T (p.Ser3069Phe)
c.9197C>T (p.Ser3066Phe)
c.8693C>T (p.Ser2898Phe)
c.8624C>T (p.Ser2875Phe)
c.3410C>T (p.Ser1137Phe)
c.9260C>T (p.Ser3087Phe)
c.9140C>T (p.Ser3047Phe)
c.9071C>T (p.Ser3024Phe)
c.7475C>T (p.Ser2492Phe)
n.9611C>T
 dbSNP gnomAD v2 gnomAD v4
6g.51748281G>CCA364421431PKHD1c.9335C>G (p.Ser3112Cys)
c.9206C>G (p.Ser3069Cys)
c.9197C>G (p.Ser3066Cys)
c.8693C>G (p.Ser2898Cys)
c.8624C>G (p.Ser2875Cys)
c.3410C>G (p.Ser1137Cys)
c.9260C>G (p.Ser3087Cys)
c.9140C>G (p.Ser3047Cys)
c.9071C>G (p.Ser3024Cys)
c.7475C>G (p.Ser2492Cys)
n.9611C>G
 gnomAD v4
6g.51748281G=CA1628502971PKHD1c.9335C= (p.Ser3112=)
c.9206C= (p.Ser3069=)
c.9197C= (p.Ser3066=)
c.8693C= (p.Ser2898=)
c.8624C= (p.Ser2875=)
c.3410C= (p.Ser1137=)
c.9260C= (p.Ser3087=)
c.9140C= (p.Ser3047=)
c.9071C= (p.Ser3024=)
c.7475C= (p.Ser2492=)
n.9611C=
6g.51748281G>TCA364421430PKHD1c.9335C>A (p.Ser3112Tyr)
c.9206C>A (p.Ser3069Tyr)
c.9197C>A (p.Ser3066Tyr)
c.8693C>A (p.Ser2898Tyr)
c.8624C>A (p.Ser2875Tyr)
c.3410C>A (p.Ser1137Tyr)
c.9260C>A (p.Ser3087Tyr)
c.9140C>A (p.Ser3047Tyr)
c.9071C>A (p.Ser3024Tyr)
c.7475C>A (p.Ser2492Tyr)
n.9611C>A
6g.51748282A=CA1628502974PKHD1c.9334T= (p.Ser3112=)
c.9205T= (p.Ser3069=)
c.9196T= (p.Ser3066=)
c.8692T= (p.Ser2898=)
c.8623T= (p.Ser2875=)
c.3409T= (p.Ser1137=)
c.9259T= (p.Ser3087=)
c.9139T= (p.Ser3047=)
c.9070T= (p.Ser3024=)
c.7474T= (p.Ser2492=)
n.9610T=
6g.51748282A>CCA364421437PKHD1c.9334T>G (p.Ser3112Ala)
c.9205T>G (p.Ser3069Ala)
c.9196T>G (p.Ser3066Ala)
c.8692T>G (p.Ser2898Ala)
c.8623T>G (p.Ser2875Ala)
c.3409T>G (p.Ser1137Ala)
c.9259T>G (p.Ser3087Ala)
c.9139T>G (p.Ser3047Ala)
c.9070T>G (p.Ser3024Ala)
c.7474T>G (p.Ser2492Ala)
n.9610T>G
 dbSNP gnomAD v3 gnomAD v4
6g.51748282A>GCA364421439PKHD1c.9334T>C (p.Ser3112Pro)
c.9205T>C (p.Ser3069Pro)
c.9196T>C (p.Ser3066Pro)
c.8692T>C (p.Ser2898Pro)
c.8623T>C (p.Ser2875Pro)
c.3409T>C (p.Ser1137Pro)
c.9259T>C (p.Ser3087Pro)
c.9139T>C (p.Ser3047Pro)
c.9070T>C (p.Ser3024Pro)
c.7474T>C (p.Ser2492Pro)
n.9610T>C
6g.51748282A>TCA364421441PKHD1c.9334T>A (p.Ser3112Thr)
c.9205T>A (p.Ser3069Thr)
c.9196T>A (p.Ser3066Thr)
c.8692T>A (p.Ser2898Thr)
c.8623T>A (p.Ser2875Thr)
c.3409T>A (p.Ser1137Thr)
c.9259T>A (p.Ser3087Thr)
c.9139T>A (p.Ser3047Thr)
c.9070T>A (p.Ser3024Thr)
c.7474T>A (p.Ser2492Thr)
n.9610T>A
6g.51748283G>ACA450613842PKHD1c.9333C>T (p.Cys3111=)
c.9204C>T (p.Cys3068=)
c.9195C>T (p.Cys3065=)
c.8691C>T (p.Cys2897=)
c.8622C>T (p.Cys2874=)
c.3408C>T (p.Cys1136=)
c.9258C>T (p.Cys3086=)
c.9138C>T (p.Cys3046=)
c.9069C>T (p.Cys3023=)
c.7473C>T (p.Cys2491=)
n.9609C>T
6g.51748283G>CCA364421444PKHD1c.9333C>G (p.Cys3111Trp)
c.9204C>G (p.Cys3068Trp)
c.9195C>G (p.Cys3065Trp)
c.8691C>G (p.Cys2897Trp)
c.8622C>G (p.Cys2874Trp)
c.3408C>G (p.Cys1136Trp)
c.9258C>G (p.Cys3086Trp)
c.9138C>G (p.Cys3046Trp)
c.9069C>G (p.Cys3023Trp)
c.7473C>G (p.Cys2491Trp)
n.9609C>G
6g.51748283G>TCA364421445PKHD1c.9333C>A (p.Cys3111Ter)
c.9204C>A (p.Cys3068Ter)
c.9195C>A (p.Cys3065Ter)
c.8691C>A (p.Cys2897Ter)
c.8622C>A (p.Cys2874Ter)
c.3408C>A (p.Cys1136Ter)
c.9258C>A (p.Cys3086Ter)
c.9138C>A (p.Cys3046Ter)
c.9069C>A (p.Cys3023Ter)
c.7473C>A (p.Cys2491Ter)
n.9609C>A
6g.51748284C>ACA364421448PKHD1c.9332G>T (p.Cys3111Phe)
c.9203G>T (p.Cys3068Phe)
c.9194G>T (p.Cys3065Phe)
c.8690G>T (p.Cys2897Phe)
c.8621G>T (p.Cys2874Phe)
c.3407G>T (p.Cys1136Phe)
c.9257G>T (p.Cys3086Phe)
c.9137G>T (p.Cys3046Phe)
c.9068G>T (p.Cys3023Phe)
c.7472G>T (p.Cys2491Phe)
n.9608G>T
 gnomAD v4
6g.51748284C=CA1628502977PKHD1c.9332G= (p.Cys3111=)
c.9203G= (p.Cys3068=)
c.9194G= (p.Cys3065=)
c.8690G= (p.Cys2897=)
c.8621G= (p.Cys2874=)
c.3407G= (p.Cys1136=)
c.9257G= (p.Cys3086=)
c.9137G= (p.Cys3046=)
c.9068G= (p.Cys3023=)
c.7472G= (p.Cys2491=)
n.9608G=
6g.51748284C>GCA364421450PKHD1c.9332G>C (p.Cys3111Ser)
c.9203G>C (p.Cys3068Ser)
c.9194G>C (p.Cys3065Ser)
c.8690G>C (p.Cys2897Ser)
c.8621G>C (p.Cys2874Ser)
c.3407G>C (p.Cys1136Ser)
c.9257G>C (p.Cys3086Ser)
c.9137G>C (p.Cys3046Ser)
c.9068G>C (p.Cys3023Ser)
c.7472G>C (p.Cys2491Ser)
n.9608G>C
6g.51748284C>TCA364421452PKHD1c.9332G>A (p.Cys3111Tyr)
c.9203G>A (p.Cys3068Tyr)
c.9194G>A (p.Cys3065Tyr)
c.8690G>A (p.Cys2897Tyr)
c.8621G>A (p.Cys2874Tyr)
c.3407G>A (p.Cys1136Tyr)
c.9257G>A (p.Cys3086Tyr)
c.9137G>A (p.Cys3046Tyr)
c.9068G>A (p.Cys3023Tyr)
c.7472G>A (p.Cys2491Tyr)
n.9608G>A
 dbSNP gnomAD v3 gnomAD v4
6g.51748285A>CCA364421456PKHD1c.9331T>G (p.Cys3111Gly)
c.9202T>G (p.Cys3068Gly)
c.9193T>G (p.Cys3065Gly)
c.8689T>G (p.Cys2897Gly)
c.8620T>G (p.Cys2874Gly)
c.3406T>G (p.Cys1136Gly)
c.9256T>G (p.Cys3086Gly)
c.9136T>G (p.Cys3046Gly)
c.9067T>G (p.Cys3023Gly)
c.7471T>G (p.Cys2491Gly)
n.9607T>G
6g.51748285A>GCA364421457PKHD1c.9331T>C (p.Cys3111Arg)
c.9202T>C (p.Cys3068Arg)
c.9193T>C (p.Cys3065Arg)
c.8689T>C (p.Cys2897Arg)
c.8620T>C (p.Cys2874Arg)
c.3406T>C (p.Cys1136Arg)
c.9256T>C (p.Cys3086Arg)
c.9136T>C (p.Cys3046Arg)
c.9067T>C (p.Cys3023Arg)
c.7471T>C (p.Cys2491Arg)
n.9607T>C
6g.51748285A>TCA364421458PKHD1c.9331T>A (p.Cys3111Ser)
c.9202T>A (p.Cys3068Ser)
c.9193T>A (p.Cys3065Ser)
c.8689T>A (p.Cys2897Ser)
c.8620T>A (p.Cys2874Ser)
c.3406T>A (p.Cys1136Ser)
c.9256T>A (p.Cys3086Ser)
c.9136T>A (p.Cys3046Ser)
c.9067T>A (p.Cys3023Ser)
c.7471T>A (p.Cys2491Ser)
n.9607T>A
6g.51748286C>ACA364421460PKHD1c.9330G>T (p.Lys3110Asn)
c.9201G>T (p.Lys3067Asn)
c.9192G>T (p.Lys3064Asn)
c.8688G>T (p.Lys2896Asn)
c.8619G>T (p.Lys2873Asn)
c.3405G>T (p.Lys1135Asn)
c.9255G>T (p.Lys3085Asn)
c.9135G>T (p.Lys3045Asn)
c.9066G>T (p.Lys3022Asn)
c.7470G>T (p.Lys2490Asn)
n.9606G>T
6g.51748286C=CA1628502983PKHD1c.9330G= (p.Lys3110=)
c.9201G= (p.Lys3067=)
c.9192G= (p.Lys3064=)
c.8688G= (p.Lys2896=)
c.8619G= (p.Lys2873=)
c.3405G= (p.Lys1135=)
c.9255G= (p.Lys3085=)
c.9135G= (p.Lys3045=)
c.9066G= (p.Lys3022=)
c.7470G= (p.Lys2490=)
n.9606G=
6g.51748286C>GCA364421462PKHD1c.9330G>C (p.Lys3110Asn)
c.9201G>C (p.Lys3067Asn)
c.9192G>C (p.Lys3064Asn)
c.8688G>C (p.Lys2896Asn)
c.8619G>C (p.Lys2873Asn)
c.3405G>C (p.Lys1135Asn)
c.9255G>C (p.Lys3085Asn)
c.9135G>C (p.Lys3045Asn)
c.9066G>C (p.Lys3022Asn)
c.7470G>C (p.Lys2490Asn)
n.9606G>C
6g.51748286C>TCA450613843PKHD1c.9330G>A (p.Lys3110=)
c.9201G>A (p.Lys3067=)
c.9192G>A (p.Lys3064=)
c.8688G>A (p.Lys2896=)
c.8619G>A (p.Lys2873=)
c.3405G>A (p.Lys1135=)
c.9255G>A (p.Lys3085=)
c.9135G>A (p.Lys3045=)
c.9066G>A (p.Lys3022=)
c.7470G>A (p.Lys2490=)
n.9606G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748287T>ACA364421467PKHD1c.9329A>T (p.Lys3110Met)
c.9200A>T (p.Lys3067Met)
c.9191A>T (p.Lys3064Met)
c.8687A>T (p.Lys2896Met)
c.8618A>T (p.Lys2873Met)
c.3404A>T (p.Lys1135Met)
c.9254A>T (p.Lys3085Met)
c.9134A>T (p.Lys3045Met)
c.9065A>T (p.Lys3022Met)
c.7469A>T (p.Lys2490Met)
n.9605A>T
6g.51748287T>CCA364421471PKHD1c.9329A>G (p.Lys3110Arg)
c.9200A>G (p.Lys3067Arg)
c.9191A>G (p.Lys3064Arg)
c.8687A>G (p.Lys2896Arg)
c.8618A>G (p.Lys2873Arg)
c.3404A>G (p.Lys1135Arg)
c.9254A>G (p.Lys3085Arg)
c.9134A>G (p.Lys3045Arg)
c.9065A>G (p.Lys3022Arg)
c.7469A>G (p.Lys2490Arg)
n.9605A>G
 dbSNP gnomAD v3 gnomAD v4
6g.51748287T>GCA364421464PKHD1c.9329A>C (p.Lys3110Thr)
c.9200A>C (p.Lys3067Thr)
c.9191A>C (p.Lys3064Thr)
c.8687A>C (p.Lys2896Thr)
c.8618A>C (p.Lys2873Thr)
c.3404A>C (p.Lys1135Thr)
c.9254A>C (p.Lys3085Thr)
c.9134A>C (p.Lys3045Thr)
c.9065A>C (p.Lys3022Thr)
c.7469A>C (p.Lys2490Thr)
n.9605A>C
6g.51748287T=CA1628502985PKHD1c.9329A= (p.Lys3110=)
c.9200A= (p.Lys3067=)
c.9191A= (p.Lys3064=)
c.8687A= (p.Lys2896=)
c.8618A= (p.Lys2873=)
c.3404A= (p.Lys1135=)
c.9254A= (p.Lys3085=)
c.9134A= (p.Lys3045=)
c.9065A= (p.Lys3022=)
c.7469A= (p.Lys2490=)
n.9605A=
6g.51748288dupCA2580075447PKHD1c.9329dup (p.Cys3111ValfsTer5)
c.9200dup (p.Cys3068ValfsTer5)
c.9191dup (p.Cys3065ValfsTer5)
c.8687dup (p.Cys2897ValfsTer5)
c.8618dup (p.Cys2874ValfsTer5)
c.3404dup (p.Cys1136ValfsTer5)
c.9254dup (p.Cys3086ValfsTer5)
c.9134dup (p.Cys3046ValfsTer5)
c.9065dup (p.Cys3023ValfsTer5)
c.7469dup (p.Cys2491ValfsTer5)
n.9605dup
 ClinVar
6g.51748288T>ACA364421473PKHD1c.9328A>T (p.Lys3110Ter)
c.9199A>T (p.Lys3067Ter)
c.9190A>T (p.Lys3064Ter)
c.8686A>T (p.Lys2896Ter)
c.8617A>T (p.Lys2873Ter)
c.3403A>T (p.Lys1135Ter)
c.9253A>T (p.Lys3085Ter)
c.9133A>T (p.Lys3045Ter)
c.9064A>T (p.Lys3022Ter)
c.7468A>T (p.Lys2490Ter)
n.9604A>T
6g.51748288T>CCA364421474PKHD1c.9328A>G (p.Lys3110Glu)
c.9199A>G (p.Lys3067Glu)
c.9190A>G (p.Lys3064Glu)
c.8686A>G (p.Lys2896Glu)
c.8617A>G (p.Lys2873Glu)
c.3403A>G (p.Lys1135Glu)
c.9253A>G (p.Lys3085Glu)
c.9133A>G (p.Lys3045Glu)
c.9064A>G (p.Lys3022Glu)
c.7468A>G (p.Lys2490Glu)
n.9604A>G
6g.51748288T>GCA364421480PKHD1c.9328A>C (p.Lys3110Gln)
c.9199A>C (p.Lys3067Gln)
c.9190A>C (p.Lys3064Gln)
c.8686A>C (p.Lys2896Gln)
c.8617A>C (p.Lys2873Gln)
c.3403A>C (p.Lys1135Gln)
c.9253A>C (p.Lys3085Gln)
c.9133A>C (p.Lys3045Gln)
c.9064A>C (p.Lys3022Gln)
c.7468A>C (p.Lys2490Gln)
n.9604A>C
6g.51748289G>ACA450613844PKHD1c.9327C>T (p.His3109=)
c.9198C>T (p.His3066=)
c.9189C>T (p.His3063=)
c.8685C>T (p.His2895=)
c.8616C>T (p.His2872=)
c.3402C>T (p.His1134=)
c.9252C>T (p.His3084=)
c.9132C>T (p.His3044=)
c.9063C>T (p.His3021=)
c.7467C>T (p.His2489=)
n.9603C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748289G>CCA364421483PKHD1c.9327C>G (p.His3109Gln)
c.9198C>G (p.His3066Gln)
c.9189C>G (p.His3063Gln)
c.8685C>G (p.His2895Gln)
c.8616C>G (p.His2872Gln)
c.3402C>G (p.His1134Gln)
c.9252C>G (p.His3084Gln)
c.9132C>G (p.His3044Gln)
c.9063C>G (p.His3021Gln)
c.7467C>G (p.His2489Gln)
n.9603C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51748289G=CA1628502988PKHD1c.9327C= (p.His3109=)
c.9198C= (p.His3066=)
c.9189C= (p.His3063=)
c.8685C= (p.His2895=)
c.8616C= (p.His2872=)
c.3402C= (p.His1134=)
c.9252C= (p.His3084=)
c.9132C= (p.His3044=)
c.9063C= (p.His3021=)
c.7467C= (p.His2489=)
n.9603C=
6g.51748289G>TCA364421486PKHD1c.9327C>A (p.His3109Gln)
c.9198C>A (p.His3066Gln)
c.9189C>A (p.His3063Gln)
c.8685C>A (p.His2895Gln)
c.8616C>A (p.His2872Gln)
c.3402C>A (p.His1134Gln)
c.9252C>A (p.His3084Gln)
c.9132C>A (p.His3044Gln)
c.9063C>A (p.His3021Gln)
c.7467C>A (p.His2489Gln)
n.9603C>A
6g.51748290T>ACA364421494PKHD1c.9326A>T (p.His3109Leu)
c.9197A>T (p.His3066Leu)
c.9188A>T (p.His3063Leu)
c.8684A>T (p.His2895Leu)
c.8615A>T (p.His2872Leu)
c.3401A>T (p.His1134Leu)
c.9251A>T (p.His3084Leu)
c.9131A>T (p.His3044Leu)
c.9062A>T (p.His3021Leu)
c.7466A>T (p.His2489Leu)
n.9602A>T
6g.51748290T>CCA364421489PKHD1c.9326A>G (p.His3109Arg)
c.9197A>G (p.His3066Arg)
c.9188A>G (p.His3063Arg)
c.8684A>G (p.His2895Arg)
c.8615A>G (p.His2872Arg)
c.3401A>G (p.His1134Arg)
c.9251A>G (p.His3084Arg)
c.9131A>G (p.His3044Arg)
c.9062A>G (p.His3021Arg)
c.7466A>G (p.His2489Arg)
n.9602A>G
 dbSNP gnomAD v3 gnomAD v4
6g.51748290T>GCA364421492PKHD1c.9326A>C (p.His3109Pro)
c.9197A>C (p.His3066Pro)
c.9188A>C (p.His3063Pro)
c.8684A>C (p.His2895Pro)
c.8615A>C (p.His2872Pro)
c.3401A>C (p.His1134Pro)
c.9251A>C (p.His3084Pro)
c.9131A>C (p.His3044Pro)
c.9062A>C (p.His3021Pro)
c.7466A>C (p.His2489Pro)
n.9602A>C
6g.51748290T=CA1628502992PKHD1c.9326A= (p.His3109=)
c.9197A= (p.His3066=)
c.9188A= (p.His3063=)
c.8684A= (p.His2895=)
c.8615A= (p.His2872=)
c.3401A= (p.His1134=)
c.9251A= (p.His3084=)
c.9131A= (p.His3044=)
c.9062A= (p.His3021=)
c.7466A= (p.His2489=)
n.9602A=
6g.51748291G>ACA364421498PKHD1c.9325C>T (p.His3109Tyr)
c.9196C>T (p.His3066Tyr)
c.9187C>T (p.His3063Tyr)
c.8683C>T (p.His2895Tyr)
c.8614C>T (p.His2872Tyr)
c.3400C>T (p.His1134Tyr)
c.9250C>T (p.His3084Tyr)
c.9130C>T (p.His3044Tyr)
c.9061C>T (p.His3021Tyr)
c.7465C>T (p.His2489Tyr)
n.9601C>T
6g.51748291G>CCA364421503PKHD1c.9325C>G (p.His3109Asp)
c.9196C>G (p.His3066Asp)
c.9187C>G (p.His3063Asp)
c.8683C>G (p.His2895Asp)
c.8614C>G (p.His2872Asp)
c.3400C>G (p.His1134Asp)
c.9250C>G (p.His3084Asp)
c.9130C>G (p.His3044Asp)
c.9061C>G (p.His3021Asp)
c.7465C>G (p.His2489Asp)
n.9601C>G
6g.51748291G>TCA364421506PKHD1c.9325C>A (p.His3109Asn)
c.9196C>A (p.His3066Asn)
c.9187C>A (p.His3063Asn)
c.8683C>A (p.His2895Asn)
c.8614C>A (p.His2872Asn)
c.3400C>A (p.His1134Asn)
c.9250C>A (p.His3084Asn)
c.9130C>A (p.His3044Asn)
c.9061C>A (p.His3021Asn)
c.7465C>A (p.His2489Asn)
n.9601C>A
6g.51748292G>ACA450613847PKHD1c.9324C>T (p.Gly3108=)
c.9195C>T (p.Gly3065=)
c.9186C>T (p.Gly3062=)
c.8682C>T (p.Gly2894=)
c.8613C>T (p.Gly2871=)
c.3399C>T (p.Gly1133=)
c.9249C>T (p.Gly3083=)
c.9129C>T (p.Gly3043=)
c.9060C>T (p.Gly3020=)
c.7464C>T (p.Gly2488=)
n.9600C>T
6g.51748292G>CCA450613846PKHD1c.9324C>G (p.Gly3108=)
c.9195C>G (p.Gly3065=)
c.9186C>G (p.Gly3062=)
c.8682C>G (p.Gly2894=)
c.8613C>G (p.Gly2871=)
c.3399C>G (p.Gly1133=)
c.9249C>G (p.Gly3083=)
c.9129C>G (p.Gly3043=)
c.9060C>G (p.Gly3020=)
c.7464C>G (p.Gly2488=)
n.9600C>G
6g.51748292G>TCA450613845PKHD1c.9324C>A (p.Gly3108=)
c.9195C>A (p.Gly3065=)
c.9186C>A (p.Gly3062=)
c.8682C>A (p.Gly2894=)
c.8613C>A (p.Gly2871=)
c.3399C>A (p.Gly1133=)
c.9249C>A (p.Gly3083=)
c.9129C>A (p.Gly3043=)
c.9060C>A (p.Gly3020=)
c.7464C>A (p.Gly2488=)
n.9600C>A
 dbSNP
6g.51748293C>ACA364421510PKHD1c.9323G>T (p.Gly3108Val)
c.9194G>T (p.Gly3065Val)
c.9185G>T (p.Gly3062Val)
c.8681G>T (p.Gly2894Val)
c.8612G>T (p.Gly2871Val)
c.3398G>T (p.Gly1133Val)
c.9248G>T (p.Gly3083Val)
c.9128G>T (p.Gly3043Val)
c.9059G>T (p.Gly3020Val)
c.7463G>T (p.Gly2488Val)
n.9599G>T
 gnomAD v4
6g.51748293C=CA1628502995PKHD1c.9323G= (p.Gly3108=)
c.9194G= (p.Gly3065=)
c.9185G= (p.Gly3062=)
c.8681G= (p.Gly2894=)
c.8612G= (p.Gly2871=)
c.3398G= (p.Gly1133=)
c.9248G= (p.Gly3083=)
c.9128G= (p.Gly3043=)
c.9059G= (p.Gly3020=)
c.7463G= (p.Gly2488=)
n.9599G=
6g.51748293C>GCA364421514PKHD1c.9323G>C (p.Gly3108Ala)
c.9194G>C (p.Gly3065Ala)
c.9185G>C (p.Gly3062Ala)
c.8681G>C (p.Gly2894Ala)
c.8612G>C (p.Gly2871Ala)
c.3398G>C (p.Gly1133Ala)
c.9248G>C (p.Gly3083Ala)
c.9128G>C (p.Gly3043Ala)
c.9059G>C (p.Gly3020Ala)
c.7463G>C (p.Gly2488Ala)
n.9599G>C
 gnomAD v4
6g.51748293C>TCA3851407PKHD1c.9323G>A (p.Gly3108Asp)
c.9194G>A (p.Gly3065Asp)
c.9185G>A (p.Gly3062Asp)
c.8681G>A (p.Gly2894Asp)
c.8612G>A (p.Gly2871Asp)
c.3398G>A (p.Gly1133Asp)
c.9248G>A (p.Gly3083Asp)
c.9128G>A (p.Gly3043Asp)
c.9059G>A (p.Gly3020Asp)
c.7463G>A (p.Gly2488Asp)
n.9599G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748294C>ACA364421525PKHD1c.9322G>T (p.Gly3108Cys)
c.9193G>T (p.Gly3065Cys)
c.9184G>T (p.Gly3062Cys)
c.8680G>T (p.Gly2894Cys)
c.8611G>T (p.Gly2871Cys)
c.3397G>T (p.Gly1133Cys)
c.9247G>T (p.Gly3083Cys)
c.9127G>T (p.Gly3043Cys)
c.9058G>T (p.Gly3020Cys)
c.7462G>T (p.Gly2488Cys)
n.9598G>T
6g.51748294C>GCA364421528PKHD1c.9322G>C (p.Gly3108Arg)
c.9193G>C (p.Gly3065Arg)
c.9184G>C (p.Gly3062Arg)
c.8680G>C (p.Gly2894Arg)
c.8611G>C (p.Gly2871Arg)
c.3397G>C (p.Gly1133Arg)
c.9247G>C (p.Gly3083Arg)
c.9127G>C (p.Gly3043Arg)
c.9058G>C (p.Gly3020Arg)
c.7462G>C (p.Gly2488Arg)
n.9598G>C
6g.51748294C>TCA364421519PKHD1c.9322G>A (p.Gly3108Ser)
c.9193G>A (p.Gly3065Ser)
c.9184G>A (p.Gly3062Ser)
c.8680G>A (p.Gly2894Ser)
c.8611G>A (p.Gly2871Ser)
c.3397G>A (p.Gly1133Ser)
c.9247G>A (p.Gly3083Ser)
c.9127G>A (p.Gly3043Ser)
c.9058G>A (p.Gly3020Ser)
c.7462G>A (p.Gly2488Ser)
n.9598G>A
 gnomAD v4
6g.51748295T>ACA450613848PKHD1c.9321A>T (p.Arg3107=)
c.9192A>T (p.Arg3064=)
c.9183A>T (p.Arg3061=)
c.8679A>T (p.Arg2893=)
c.8610A>T (p.Arg2870=)
c.3396A>T (p.Arg1132=)
c.9246A>T (p.Arg3082=)
c.9126A>T (p.Arg3042=)
c.9057A>T (p.Arg3019=)
c.7461A>T (p.Arg2487=)
n.9597A>T
6g.51748295T>CCA450613849PKHD1c.9321A>G (p.Arg3107=)
c.9192A>G (p.Arg3064=)
c.9183A>G (p.Arg3061=)
c.8679A>G (p.Arg2893=)
c.8610A>G (p.Arg2870=)
c.3396A>G (p.Arg1132=)
c.9246A>G (p.Arg3082=)
c.9126A>G (p.Arg3042=)
c.9057A>G (p.Arg3019=)
c.7461A>G (p.Arg2487=)
n.9597A>G
6g.51748295T>GCA450613850PKHD1c.9321A>C (p.Arg3107=)
c.9192A>C (p.Arg3064=)
c.9183A>C (p.Arg3061=)
c.8679A>C (p.Arg2893=)
c.8610A>C (p.Arg2870=)
c.3396A>C (p.Arg1132=)
c.9246A>C (p.Arg3082=)
c.9126A>C (p.Arg3042=)
c.9057A>C (p.Arg3019=)
c.7461A>C (p.Arg2487=)
n.9597A>C
6g.51748296C>ACA364421536PKHD1c.9320G>T (p.Arg3107Leu)
c.9191G>T (p.Arg3064Leu)
c.9182G>T (p.Arg3061Leu)
c.8678G>T (p.Arg2893Leu)
c.8609G>T (p.Arg2870Leu)
c.3395G>T (p.Arg1132Leu)
c.9245G>T (p.Arg3082Leu)
c.9125G>T (p.Arg3042Leu)
c.9056G>T (p.Arg3019Leu)
c.7460G>T (p.Arg2487Leu)
n.9596G>T
 gnomAD v4
6g.51748296C=CA1628502999PKHD1c.9320G= (p.Arg3107=)
c.9191G= (p.Arg3064=)
c.9182G= (p.Arg3061=)
c.8678G= (p.Arg2893=)
c.8609G= (p.Arg2870=)
c.3395G= (p.Arg1132=)
c.9245G= (p.Arg3082=)
c.9125G= (p.Arg3042=)
c.9056G= (p.Arg3019=)
c.7460G= (p.Arg2487=)
n.9596G=
6g.51748296C>GCA364421533PKHD1c.9320G>C (p.Arg3107Pro)
c.9191G>C (p.Arg3064Pro)
c.9182G>C (p.Arg3061Pro)
c.8678G>C (p.Arg2893Pro)
c.8609G>C (p.Arg2870Pro)
c.3395G>C (p.Arg1132Pro)
c.9245G>C (p.Arg3082Pro)
c.9125G>C (p.Arg3042Pro)
c.9056G>C (p.Arg3019Pro)
c.7460G>C (p.Arg2487Pro)
n.9596G>C
6g.51748296C>TCA3851408PKHD1c.9320G>A (p.Arg3107Gln)
c.9191G>A (p.Arg3064Gln)
c.9182G>A (p.Arg3061Gln)
c.8678G>A (p.Arg2893Gln)
c.8609G>A (p.Arg2870Gln)
c.3395G>A (p.Arg1132Gln)
c.9245G>A (p.Arg3082Gln)
c.9125G>A (p.Arg3042Gln)
c.9056G>A (p.Arg3019Gln)
c.7460G>A (p.Arg2487Gln)
n.9596G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51748297G>ACA274366PKHD1c.9319C>T (p.Arg3107Ter)
c.9190C>T (p.Arg3064Ter)
c.9181C>T (p.Arg3061Ter)
c.8677C>T (p.Arg2893Ter)
c.8608C>T (p.Arg2870Ter)
c.3394C>T (p.Arg1132Ter)
c.9244C>T (p.Arg3082Ter)
c.9124C>T (p.Arg3042Ter)
c.9055C>T (p.Arg3019Ter)
c.7459C>T (p.Arg2487Ter)
n.9595C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51748297G>CCA364421546PKHD1c.9319C>G (p.Arg3107Gly)
c.9190C>G (p.Arg3064Gly)
c.9181C>G (p.Arg3061Gly)
c.8677C>G (p.Arg2893Gly)
c.8608C>G (p.Arg2870Gly)
c.3394C>G (p.Arg1132Gly)
c.9244C>G (p.Arg3082Gly)
c.9124C>G (p.Arg3042Gly)
c.9055C>G (p.Arg3019Gly)
c.7459C>G (p.Arg2487Gly)
n.9595C>G
6g.51748297G=CA1628503007PKHD1c.9319C= (p.Arg3107=)
c.9190C= (p.Arg3064=)
c.9181C= (p.Arg3061=)
c.8677C= (p.Arg2893=)
c.8608C= (p.Arg2870=)
c.3394C= (p.Arg1132=)
c.9244C= (p.Arg3082=)
c.9124C= (p.Arg3042=)
c.9055C= (p.Arg3019=)
c.7459C= (p.Arg2487=)
n.9595C=
6g.51748297G>TCA450613851PKHD1c.9319C>A (p.Arg3107=)
c.9190C>A (p.Arg3064=)
c.9181C>A (p.Arg3061=)
c.8677C>A (p.Arg2893=)
c.8608C>A (p.Arg2870=)
c.3394C>A (p.Arg1132=)
c.9244C>A (p.Arg3082=)
c.9124C>A (p.Arg3042=)
c.9055C>A (p.Arg3019=)
c.7459C>A (p.Arg2487=)
n.9595C>A
 ClinVar
6g.51748298G>ACA450613852PKHD1c.9318C>T (p.Ile3106=)
c.9189C>T (p.Ile3063=)
c.9180C>T (p.Ile3060=)
c.8676C>T (p.Ile2892=)
c.8607C>T (p.Ile2869=)
c.3393C>T (p.Ile1131=)
c.9243C>T (p.Ile3081=)
c.9123C>T (p.Ile3041=)
c.9054C>T (p.Ile3018=)
c.7458C>T (p.Ile2486=)
n.9594C>T
 ClinVar
6g.51748298G>CCA364421549PKHD1c.9318C>G (p.Ile3106Met)
c.9189C>G (p.Ile3063Met)
c.9180C>G (p.Ile3060Met)
c.8676C>G (p.Ile2892Met)
c.8607C>G (p.Ile2869Met)
c.3393C>G (p.Ile1131Met)
c.9243C>G (p.Ile3081Met)
c.9123C>G (p.Ile3041Met)
c.9054C>G (p.Ile3018Met)
c.7458C>G (p.Ile2486Met)
n.9594C>G
6g.51748298G>TCA450613853PKHD1c.9318C>A (p.Ile3106=)
c.9189C>A (p.Ile3063=)
c.9180C>A (p.Ile3060=)
c.8676C>A (p.Ile2892=)
c.8607C>A (p.Ile2869=)
c.3393C>A (p.Ile1131=)
c.9243C>A (p.Ile3081=)
c.9123C>A (p.Ile3041=)
c.9054C>A (p.Ile3018=)
c.7458C>A (p.Ile2486=)
n.9594C>A
6g.51748299A>CCA364421567PKHD1c.9317T>G (p.Ile3106Ser)
c.9188T>G (p.Ile3063Ser)
c.9179T>G (p.Ile3060Ser)
c.8675T>G (p.Ile2892Ser)
c.8606T>G (p.Ile2869Ser)
c.3392T>G (p.Ile1131Ser)
c.9242T>G (p.Ile3081Ser)
c.9122T>G (p.Ile3041Ser)
c.9053T>G (p.Ile3018Ser)
c.7457T>G (p.Ile2486Ser)
n.9593T>G
6g.51748299A>GCA364421556PKHD1c.9317T>C (p.Ile3106Thr)
c.9188T>C (p.Ile3063Thr)
c.9179T>C (p.Ile3060Thr)
c.8675T>C (p.Ile2892Thr)
c.8606T>C (p.Ile2869Thr)
c.3392T>C (p.Ile1131Thr)
c.9242T>C (p.Ile3081Thr)
c.9122T>C (p.Ile3041Thr)
c.9053T>C (p.Ile3018Thr)
c.7457T>C (p.Ile2486Thr)
n.9593T>C
6g.51748299A>TCA364421573PKHD1c.9317T>A (p.Ile3106Asn)
c.9188T>A (p.Ile3063Asn)
c.9179T>A (p.Ile3060Asn)
c.8675T>A (p.Ile2892Asn)
c.8606T>A (p.Ile2869Asn)
c.3392T>A (p.Ile1131Asn)
c.9242T>A (p.Ile3081Asn)
c.9122T>A (p.Ile3041Asn)
c.9053T>A (p.Ile3018Asn)
c.7457T>A (p.Ile2486Asn)
n.9593T>A
6g.51748300T>ACA3851409PKHD1c.9316A>T (p.Ile3106Phe)
c.9187A>T (p.Ile3063Phe)
c.9178A>T (p.Ile3060Phe)
c.8674A>T (p.Ile2892Phe)
c.8605A>T (p.Ile2869Phe)
c.3391A>T (p.Ile1131Phe)
c.9241A>T (p.Ile3081Phe)
c.9121A>T (p.Ile3041Phe)
c.9052A>T (p.Ile3018Phe)
c.7456A>T (p.Ile2486Phe)
n.9592A>T
 dbSNP ExAC gnomAD v2
6g.51748300T>CCA364422251PKHD1c.9316A>G (p.Ile3106Val)
c.9187A>G (p.Ile3063Val)
c.9178A>G (p.Ile3060Val)
c.8674A>G (p.Ile2892Val)
c.8605A>G (p.Ile2869Val)
c.3391A>G (p.Ile1131Val)
c.9241A>G (p.Ile3081Val)
c.9121A>G (p.Ile3041Val)
c.9052A>G (p.Ile3018Val)
c.7456A>G (p.Ile2486Val)
n.9592A>G
6g.51748300T>GCA364422252PKHD1c.9316A>C (p.Ile3106Leu)
c.9187A>C (p.Ile3063Leu)
c.9178A>C (p.Ile3060Leu)
c.8674A>C (p.Ile2892Leu)
c.8605A>C (p.Ile2869Leu)
c.3391A>C (p.Ile1131Leu)
c.9241A>C (p.Ile3081Leu)
c.9121A>C (p.Ile3041Leu)
c.9052A>C (p.Ile3018Leu)
c.7456A>C (p.Ile2486Leu)
n.9592A>C
6g.51748300T=CA1628503026PKHD1c.9316A= (p.Ile3106=)
c.9187A= (p.Ile3063=)
c.9178A= (p.Ile3060=)
c.8674A= (p.Ile2892=)
c.8605A= (p.Ile2869=)
c.3391A= (p.Ile1131=)
c.9241A= (p.Ile3081=)
c.9121A= (p.Ile3041=)
c.9052A= (p.Ile3018=)
c.7456A= (p.Ile2486=)
n.9592A=
6g.51748301G>ACA450613490PKHD1c.9315C>T (p.His3105=)
c.9186C>T (p.His3062=)
c.9177C>T (p.His3059=)
c.8673C>T (p.His2891=)
c.8604C>T (p.His2868=)
c.3390C>T (p.His1130=)
c.9240C>T (p.His3080=)
c.9120C>T (p.His3040=)
c.9051C>T (p.His3017=)
c.7455C>T (p.His2485=)
n.9591C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748301G>CCA364422253PKHD1c.9315C>G (p.His3105Gln)
c.9186C>G (p.His3062Gln)
c.9177C>G (p.His3059Gln)
c.8673C>G (p.His2891Gln)
c.8604C>G (p.His2868Gln)
c.3390C>G (p.His1130Gln)
c.9240C>G (p.His3080Gln)
c.9120C>G (p.His3040Gln)
c.9051C>G (p.His3017Gln)
c.7455C>G (p.His2485Gln)
n.9591C>G
6g.51748301G=CA1628503032PKHD1c.9315C= (p.His3105=)
c.9186C= (p.His3062=)
c.9177C= (p.His3059=)
c.8673C= (p.His2891=)
c.8604C= (p.His2868=)
c.3390C= (p.His1130=)
c.9240C= (p.His3080=)
c.9120C= (p.His3040=)
c.9051C= (p.His3017=)
c.7455C= (p.His2485=)
n.9591C=
6g.51748301G>TCA364422254PKHD1c.9315C>A (p.His3105Gln)
c.9186C>A (p.His3062Gln)
c.9177C>A (p.His3059Gln)
c.8673C>A (p.His2891Gln)
c.8604C>A (p.His2868Gln)
c.3390C>A (p.His1130Gln)
c.9240C>A (p.His3080Gln)
c.9120C>A (p.His3040Gln)
c.9051C>A (p.His3017Gln)
c.7455C>A (p.His2485Gln)
n.9591C>A

Number of alleles fetched