Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51748127G>ACA450613478PKHD1c.9489C>T (p.Asn3163=)
c.9360C>T (p.Asn3120=)
c.9351C>T (p.Asn3117=)
c.8847C>T (p.Asn2949=)
c.8778C>T (p.Asn2926=)
c.3564C>T (p.Asn1188=)
c.9414C>T (p.Asn3138=)
c.9294C>T (p.Asn3098=)
c.9225C>T (p.Asn3075=)
c.7629C>T (p.Asn2543=)
n.9765C>T
6g.51748127G>CCA364420950PKHD1c.9489C>G (p.Asn3163Lys)
c.9360C>G (p.Asn3120Lys)
c.9351C>G (p.Asn3117Lys)
c.8847C>G (p.Asn2949Lys)
c.8778C>G (p.Asn2926Lys)
c.3564C>G (p.Asn1188Lys)
c.9414C>G (p.Asn3138Lys)
c.9294C>G (p.Asn3098Lys)
c.9225C>G (p.Asn3075Lys)
c.7629C>G (p.Asn2543Lys)
n.9765C>G
6g.51748127G>TCA364420951PKHD1c.9489C>A (p.Asn3163Lys)
c.9360C>A (p.Asn3120Lys)
c.9351C>A (p.Asn3117Lys)
c.8847C>A (p.Asn2949Lys)
c.8778C>A (p.Asn2926Lys)
c.3564C>A (p.Asn1188Lys)
c.9414C>A (p.Asn3138Lys)
c.9294C>A (p.Asn3098Lys)
c.9225C>A (p.Asn3075Lys)
c.7629C>A (p.Asn2543Lys)
n.9765C>A
 COSMIC COSMIC
6g.51748128T>ACA364420952PKHD1c.9488A>T (p.Asn3163Ile)
c.9359A>T (p.Asn3120Ile)
c.9350A>T (p.Asn3117Ile)
c.8846A>T (p.Asn2949Ile)
c.8777A>T (p.Asn2926Ile)
c.3563A>T (p.Asn1188Ile)
c.9413A>T (p.Asn3138Ile)
c.9293A>T (p.Asn3098Ile)
c.9224A>T (p.Asn3075Ile)
c.7628A>T (p.Asn2543Ile)
n.9764A>T
6g.51748128T>CCA364420954PKHD1c.9488A>G (p.Asn3163Ser)
c.9359A>G (p.Asn3120Ser)
c.9350A>G (p.Asn3117Ser)
c.8846A>G (p.Asn2949Ser)
c.8777A>G (p.Asn2926Ser)
c.3563A>G (p.Asn1188Ser)
c.9413A>G (p.Asn3138Ser)
c.9293A>G (p.Asn3098Ser)
c.9224A>G (p.Asn3075Ser)
c.7628A>G (p.Asn2543Ser)
n.9764A>G
6g.51748128T>GCA364420953PKHD1c.9488A>C (p.Asn3163Thr)
c.9359A>C (p.Asn3120Thr)
c.9350A>C (p.Asn3117Thr)
c.8846A>C (p.Asn2949Thr)
c.8777A>C (p.Asn2926Thr)
c.3563A>C (p.Asn1188Thr)
c.9413A>C (p.Asn3138Thr)
c.9293A>C (p.Asn3098Thr)
c.9224A>C (p.Asn3075Thr)
c.7628A>C (p.Asn2543Thr)
n.9764A>C
6g.51748129T>ACA138896163PKHD1c.9487A>T (p.Asn3163Tyr)
c.9358A>T (p.Asn3120Tyr)
c.9349A>T (p.Asn3117Tyr)
c.8845A>T (p.Asn2949Tyr)
c.8776A>T (p.Asn2926Tyr)
c.3562A>T (p.Asn1188Tyr)
c.9412A>T (p.Asn3138Tyr)
c.9292A>T (p.Asn3098Tyr)
c.9223A>T (p.Asn3075Tyr)
c.7627A>T (p.Asn2543Tyr)
n.9763A>T
 dbSNP gnomAD v3 gnomAD v4
6g.51748129T>CCA364420955PKHD1c.9487A>G (p.Asn3163Asp)
c.9358A>G (p.Asn3120Asp)
c.9349A>G (p.Asn3117Asp)
c.8845A>G (p.Asn2949Asp)
c.8776A>G (p.Asn2926Asp)
c.3562A>G (p.Asn1188Asp)
c.9412A>G (p.Asn3138Asp)
c.9292A>G (p.Asn3098Asp)
c.9223A>G (p.Asn3075Asp)
c.7627A>G (p.Asn2543Asp)
n.9763A>G
6g.51748129T>GCA364420956PKHD1c.9487A>C (p.Asn3163His)
c.9358A>C (p.Asn3120His)
c.9349A>C (p.Asn3117His)
c.8845A>C (p.Asn2949His)
c.8776A>C (p.Asn2926His)
c.3562A>C (p.Asn1188His)
c.9412A>C (p.Asn3138His)
c.9292A>C (p.Asn3098His)
c.9223A>C (p.Asn3075His)
c.7627A>C (p.Asn2543His)
n.9763A>C
6g.51748129T=CA1628502583PKHD1c.9487A= (p.Asn3163=)
c.9358A= (p.Asn3120=)
c.9349A= (p.Asn3117=)
c.8845A= (p.Asn2949=)
c.8776A= (p.Asn2926=)
c.3562A= (p.Asn1188=)
c.9412A= (p.Asn3138=)
c.9292A= (p.Asn3098=)
c.9223A= (p.Asn3075=)
c.7627A= (p.Asn2543=)
n.9763A=
6g.51748130C>ACA364420957PKHD1c.9486G>T (p.Glu3162Asp)
c.9357G>T (p.Glu3119Asp)
c.9348G>T (p.Glu3116Asp)
c.8844G>T (p.Glu2948Asp)
c.8775G>T (p.Glu2925Asp)
c.3561G>T (p.Glu1187Asp)
c.9411G>T (p.Glu3137Asp)
c.9291G>T (p.Glu3097Asp)
c.9222G>T (p.Glu3074Asp)
c.7626G>T (p.Glu2542Asp)
n.9762G>T
 COSMIC COSMIC
6g.51748130C>GCA364420958PKHD1c.9486G>C (p.Glu3162Asp)
c.9357G>C (p.Glu3119Asp)
c.9348G>C (p.Glu3116Asp)
c.8844G>C (p.Glu2948Asp)
c.8775G>C (p.Glu2925Asp)
c.3561G>C (p.Glu1187Asp)
c.9411G>C (p.Glu3137Asp)
c.9291G>C (p.Glu3097Asp)
c.9222G>C (p.Glu3074Asp)
c.7626G>C (p.Glu2542Asp)
n.9762G>C
6g.51748130C>TCA450613480PKHD1c.9486G>A (p.Glu3162=)
c.9357G>A (p.Glu3119=)
c.9348G>A (p.Glu3116=)
c.8844G>A (p.Glu2948=)
c.8775G>A (p.Glu2925=)
c.3561G>A (p.Glu1187=)
c.9411G>A (p.Glu3137=)
c.9291G>A (p.Glu3097=)
c.9222G>A (p.Glu3074=)
c.7626G>A (p.Glu2542=)
n.9762G>A
6g.51748131T>ACA364420959PKHD1c.9485A>T (p.Glu3162Val)
c.9356A>T (p.Glu3119Val)
c.9347A>T (p.Glu3116Val)
c.8843A>T (p.Glu2948Val)
c.8774A>T (p.Glu2925Val)
c.3560A>T (p.Glu1187Val)
c.9410A>T (p.Glu3137Val)
c.9290A>T (p.Glu3097Val)
c.9221A>T (p.Glu3074Val)
c.7625A>T (p.Glu2542Val)
n.9761A>T
6g.51748131T>CCA138896165PKHD1c.9485A>G (p.Glu3162Gly)
c.9356A>G (p.Glu3119Gly)
c.9347A>G (p.Glu3116Gly)
c.8843A>G (p.Glu2948Gly)
c.8774A>G (p.Glu2925Gly)
c.3560A>G (p.Glu1187Gly)
c.9410A>G (p.Glu3137Gly)
c.9290A>G (p.Glu3097Gly)
c.9221A>G (p.Glu3074Gly)
c.7625A>G (p.Glu2542Gly)
n.9761A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748131T>GCA364420960PKHD1c.9485A>C (p.Glu3162Ala)
c.9356A>C (p.Glu3119Ala)
c.9347A>C (p.Glu3116Ala)
c.8843A>C (p.Glu2948Ala)
c.8774A>C (p.Glu2925Ala)
c.3560A>C (p.Glu1187Ala)
c.9410A>C (p.Glu3137Ala)
c.9290A>C (p.Glu3097Ala)
c.9221A>C (p.Glu3074Ala)
c.7625A>C (p.Glu2542Ala)
n.9761A>C
6g.51748131T=CA1628502587PKHD1c.9485A= (p.Glu3162=)
c.9356A= (p.Glu3119=)
c.9347A= (p.Glu3116=)
c.8843A= (p.Glu2948=)
c.8774A= (p.Glu2925=)
c.3560A= (p.Glu1187=)
c.9410A= (p.Glu3137=)
c.9290A= (p.Glu3097=)
c.9221A= (p.Glu3074=)
c.7625A= (p.Glu2542=)
n.9761A=
6g.51748132C>ACA364420961PKHD1c.9484G>T (p.Glu3162Ter)
c.9355G>T (p.Glu3119Ter)
c.9346G>T (p.Glu3116Ter)
c.8842G>T (p.Glu2948Ter)
c.8773G>T (p.Glu2925Ter)
c.3559G>T (p.Glu1187Ter)
c.9409G>T (p.Glu3137Ter)
c.9289G>T (p.Glu3097Ter)
c.9220G>T (p.Glu3074Ter)
c.7624G>T (p.Glu2542Ter)
n.9760G>T
6g.51748132C>GCA364420962PKHD1c.9484G>C (p.Glu3162Gln)
c.9355G>C (p.Glu3119Gln)
c.9346G>C (p.Glu3116Gln)
c.8842G>C (p.Glu2948Gln)
c.8773G>C (p.Glu2925Gln)
c.3559G>C (p.Glu1187Gln)
c.9409G>C (p.Glu3137Gln)
c.9289G>C (p.Glu3097Gln)
c.9220G>C (p.Glu3074Gln)
c.7624G>C (p.Glu2542Gln)
n.9760G>C
6g.51748132C>TCA364420963PKHD1c.9484G>A (p.Glu3162Lys)
c.9355G>A (p.Glu3119Lys)
c.9346G>A (p.Glu3116Lys)
c.8842G>A (p.Glu2948Lys)
c.8773G>A (p.Glu2925Lys)
c.3559G>A (p.Glu1187Lys)
c.9409G>A (p.Glu3137Lys)
c.9289G>A (p.Glu3097Lys)
c.9220G>A (p.Glu3074Lys)
c.7624G>A (p.Glu2542Lys)
n.9760G>A
6g.51748133T>ACA450613484PKHD1c.9483A>T (p.Val3161=)
c.9354A>T (p.Val3118=)
c.9345A>T (p.Val3115=)
c.8841A>T (p.Val2947=)
c.8772A>T (p.Val2924=)
c.3558A>T (p.Val1186=)
c.9408A>T (p.Val3136=)
c.9288A>T (p.Val3096=)
c.9219A>T (p.Val3073=)
c.7623A>T (p.Val2541=)
n.9759A>T
6g.51748133T>CCA450613485PKHD1c.9483A>G (p.Val3161=)
c.9354A>G (p.Val3118=)
c.9345A>G (p.Val3115=)
c.8841A>G (p.Val2947=)
c.8772A>G (p.Val2924=)
c.3558A>G (p.Val1186=)
c.9408A>G (p.Val3136=)
c.9288A>G (p.Val3096=)
c.9219A>G (p.Val3073=)
c.7623A>G (p.Val2541=)
n.9759A>G
6g.51748133T>GCA450613486PKHD1c.9483A>C (p.Val3161=)
c.9354A>C (p.Val3118=)
c.9345A>C (p.Val3115=)
c.8841A>C (p.Val2947=)
c.8772A>C (p.Val2924=)
c.3558A>C (p.Val1186=)
c.9408A>C (p.Val3136=)
c.9288A>C (p.Val3096=)
c.9219A>C (p.Val3073=)
c.7623A>C (p.Val2541=)
n.9759A>C
6g.51748134A=CA1628502590PKHD1c.9482T= (p.Val3161=)
c.9353T= (p.Val3118=)
c.9344T= (p.Val3115=)
c.8840T= (p.Val2947=)
c.8771T= (p.Val2924=)
c.3557T= (p.Val1186=)
c.9407T= (p.Val3136=)
c.9287T= (p.Val3096=)
c.9218T= (p.Val3073=)
c.7622T= (p.Val2541=)
n.9758T=
6g.51748134A>CCA364420966PKHD1c.9482T>G (p.Val3161Gly)
c.9353T>G (p.Val3118Gly)
c.9344T>G (p.Val3115Gly)
c.8840T>G (p.Val2947Gly)
c.8771T>G (p.Val2924Gly)
c.3557T>G (p.Val1186Gly)
c.9407T>G (p.Val3136Gly)
c.9287T>G (p.Val3096Gly)
c.9218T>G (p.Val3073Gly)
c.7622T>G (p.Val2541Gly)
n.9758T>G
6g.51748134A>GCA364420965PKHD1c.9482T>C (p.Val3161Ala)
c.9353T>C (p.Val3118Ala)
c.9344T>C (p.Val3115Ala)
c.8840T>C (p.Val2947Ala)
c.8771T>C (p.Val2924Ala)
c.3557T>C (p.Val1186Ala)
c.9407T>C (p.Val3136Ala)
c.9287T>C (p.Val3096Ala)
c.9218T>C (p.Val3073Ala)
c.7622T>C (p.Val2541Ala)
n.9758T>C
 dbSNP
6g.51748134A>TCA364420964PKHD1c.9482T>A (p.Val3161Glu)
c.9353T>A (p.Val3118Glu)
c.9344T>A (p.Val3115Glu)
c.8840T>A (p.Val2947Glu)
c.8771T>A (p.Val2924Glu)
c.3557T>A (p.Val1186Glu)
c.9407T>A (p.Val3136Glu)
c.9287T>A (p.Val3096Glu)
c.9218T>A (p.Val3073Glu)
c.7622T>A (p.Val2541Glu)
n.9758T>A
6g.51748139_51748145delCA2679078633PKHD1c.9476_9482del (p.Leu3159Ter)
c.9347_9353del (p.Leu3116Ter)
c.9338_9344del (p.Leu3113Ter)
c.8834_8840del (p.Leu2945Ter)
c.8765_8771del (p.Leu2922Ter)
c.3551_3557del (p.Leu1184Ter)
c.9401_9407del (p.Leu3134Ter)
c.9281_9287del (p.Leu3094Ter)
c.9212_9218del (p.Leu3071Ter)
c.7616_7622del (p.Leu2539Ter)
n.9752_9758del
 gnomAD v4
6g.51748135C>ACA364420967PKHD1c.9481G>T (p.Val3161Leu)
c.9352G>T (p.Val3118Leu)
c.9343G>T (p.Val3115Leu)
c.8839G>T (p.Val2947Leu)
c.8770G>T (p.Val2924Leu)
c.3556G>T (p.Val1186Leu)
c.9406G>T (p.Val3136Leu)
c.9286G>T (p.Val3096Leu)
c.9217G>T (p.Val3073Leu)
c.7621G>T (p.Val2541Leu)
n.9757G>T
6g.51748135C>GCA364420968PKHD1c.9481G>C (p.Val3161Leu)
c.9352G>C (p.Val3118Leu)
c.9343G>C (p.Val3115Leu)
c.8839G>C (p.Val2947Leu)
c.8770G>C (p.Val2924Leu)
c.3556G>C (p.Val1186Leu)
c.9406G>C (p.Val3136Leu)
c.9286G>C (p.Val3096Leu)
c.9217G>C (p.Val3073Leu)
c.7621G>C (p.Val2541Leu)
n.9757G>C
6g.51748135C>TCA364420969PKHD1c.9481G>A (p.Val3161Ile)
c.9352G>A (p.Val3118Ile)
c.9343G>A (p.Val3115Ile)
c.8839G>A (p.Val2947Ile)
c.8770G>A (p.Val2924Ile)
c.3556G>A (p.Val1186Ile)
c.9406G>A (p.Val3136Ile)
c.9286G>A (p.Val3096Ile)
c.9217G>A (p.Val3073Ile)
c.7621G>A (p.Val2541Ile)
n.9757G>A
6g.51748136A>CCA364420970PKHD1c.9480T>G (p.His3160Gln)
c.9351T>G (p.His3117Gln)
c.9342T>G (p.His3114Gln)
c.8838T>G (p.His2946Gln)
c.8769T>G (p.His2923Gln)
c.3555T>G (p.His1185Gln)
c.9405T>G (p.His3135Gln)
c.9285T>G (p.His3095Gln)
c.9216T>G (p.His3072Gln)
c.7620T>G (p.His2540Gln)
n.9756T>G
 gnomAD v4
6g.51748136A>GCA450613491PKHD1c.9480T>C (p.His3160=)
c.9351T>C (p.His3117=)
c.9342T>C (p.His3114=)
c.8838T>C (p.His2946=)
c.8769T>C (p.His2923=)
c.3555T>C (p.His1185=)
c.9405T>C (p.His3135=)
c.9285T>C (p.His3095=)
c.9216T>C (p.His3072=)
c.7620T>C (p.His2540=)
n.9756T>C
 COSMIC COSMIC
6g.51748136A>TCA364420971PKHD1c.9480T>A (p.His3160Gln)
c.9351T>A (p.His3117Gln)
c.9342T>A (p.His3114Gln)
c.8838T>A (p.His2946Gln)
c.8769T>A (p.His2923Gln)
c.3555T>A (p.His1185Gln)
c.9405T>A (p.His3135Gln)
c.9285T>A (p.His3095Gln)
c.9216T>A (p.His3072Gln)
c.7620T>A (p.His2540Gln)
n.9756T>A
6g.51748137T>ACA3851384PKHD1c.9479A>T (p.His3160Leu)
c.9350A>T (p.His3117Leu)
c.9341A>T (p.His3114Leu)
c.8837A>T (p.His2946Leu)
c.8768A>T (p.His2923Leu)
c.3554A>T (p.His1185Leu)
c.9404A>T (p.His3135Leu)
c.9284A>T (p.His3095Leu)
c.9215A>T (p.His3072Leu)
c.7619A>T (p.His2540Leu)
n.9755A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748137T>CCA138896168PKHD1c.9479A>G (p.His3160Arg)
c.9350A>G (p.His3117Arg)
c.9341A>G (p.His3114Arg)
c.8837A>G (p.His2946Arg)
c.8768A>G (p.His2923Arg)
c.3554A>G (p.His1185Arg)
c.9404A>G (p.His3135Arg)
c.9284A>G (p.His3095Arg)
c.9215A>G (p.His3072Arg)
c.7619A>G (p.His2540Arg)
n.9755A>G
 dbSNP
6g.51748137T>GCA364420972PKHD1c.9479A>C (p.His3160Pro)
c.9350A>C (p.His3117Pro)
c.9341A>C (p.His3114Pro)
c.8837A>C (p.His2946Pro)
c.8768A>C (p.His2923Pro)
c.3554A>C (p.His1185Pro)
c.9404A>C (p.His3135Pro)
c.9284A>C (p.His3095Pro)
c.9215A>C (p.His3072Pro)
c.7619A>C (p.His2540Pro)
n.9755A>C
6g.51748137T=CA1628502593PKHD1c.9479A= (p.His3160=)
c.9350A= (p.His3117=)
c.9341A= (p.His3114=)
c.8837A= (p.His2946=)
c.8768A= (p.His2923=)
c.3554A= (p.His1185=)
c.9404A= (p.His3135=)
c.9284A= (p.His3095=)
c.9215A= (p.His3072=)
c.7619A= (p.His2540=)
n.9755A=
6g.51748138G>ACA3851385PKHD1c.9478C>T (p.His3160Tyr)
c.9349C>T (p.His3117Tyr)
c.9340C>T (p.His3114Tyr)
c.8836C>T (p.His2946Tyr)
c.8767C>T (p.His2923Tyr)
c.3553C>T (p.His1185Tyr)
c.9403C>T (p.His3135Tyr)
c.9283C>T (p.His3095Tyr)
c.9214C>T (p.His3072Tyr)
c.7618C>T (p.His2540Tyr)
n.9754C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748138G>CCA364420973PKHD1c.9478C>G (p.His3160Asp)
c.9349C>G (p.His3117Asp)
c.9340C>G (p.His3114Asp)
c.8836C>G (p.His2946Asp)
c.8767C>G (p.His2923Asp)
c.3553C>G (p.His1185Asp)
c.9403C>G (p.His3135Asp)
c.9283C>G (p.His3095Asp)
c.9214C>G (p.His3072Asp)
c.7618C>G (p.His2540Asp)
n.9754C>G
6g.51748138G=CA1628502600PKHD1c.9478C= (p.His3160=)
c.9349C= (p.His3117=)
c.9340C= (p.His3114=)
c.8836C= (p.His2946=)
c.8767C= (p.His2923=)
c.3553C= (p.His1185=)
c.9403C= (p.His3135=)
c.9283C= (p.His3095=)
c.9214C= (p.His3072=)
c.7618C= (p.His2540=)
n.9754C=
6g.51748138G>TCA364420974PKHD1c.9478C>A (p.His3160Asn)
c.9349C>A (p.His3117Asn)
c.9340C>A (p.His3114Asn)
c.8836C>A (p.His2946Asn)
c.8767C>A (p.His2923Asn)
c.3553C>A (p.His1185Asn)
c.9403C>A (p.His3135Asn)
c.9283C>A (p.His3095Asn)
c.9214C>A (p.His3072Asn)
c.7618C>A (p.His2540Asn)
n.9754C>A
6g.51748139T>ACA364420975PKHD1c.9477A>T (p.Leu3159Phe)
c.9348A>T (p.Leu3116Phe)
c.9339A>T (p.Leu3113Phe)
c.8835A>T (p.Leu2945Phe)
c.8766A>T (p.Leu2922Phe)
c.3552A>T (p.Leu1184Phe)
c.9402A>T (p.Leu3134Phe)
c.9282A>T (p.Leu3094Phe)
c.9213A>T (p.Leu3071Phe)
c.7617A>T (p.Leu2539Phe)
n.9753A>T
6g.51748139T>CCA450613496PKHD1c.9477A>G (p.Leu3159=)
c.9348A>G (p.Leu3116=)
c.9339A>G (p.Leu3113=)
c.8835A>G (p.Leu2945=)
c.8766A>G (p.Leu2922=)
c.3552A>G (p.Leu1184=)
c.9402A>G (p.Leu3134=)
c.9282A>G (p.Leu3094=)
c.9213A>G (p.Leu3071=)
c.7617A>G (p.Leu2539=)
n.9753A>G
 dbSNP
6g.51748139T>GCA364420976PKHD1c.9477A>C (p.Leu3159Phe)
c.9348A>C (p.Leu3116Phe)
c.9339A>C (p.Leu3113Phe)
c.8835A>C (p.Leu2945Phe)
c.8766A>C (p.Leu2922Phe)
c.3552A>C (p.Leu1184Phe)
c.9402A>C (p.Leu3134Phe)
c.9282A>C (p.Leu3094Phe)
c.9213A>C (p.Leu3071Phe)
c.7617A>C (p.Leu2539Phe)
n.9753A>C
6g.51748140A>CCA364420978PKHD1c.9476T>G (p.Leu3159Ter)
c.9347T>G (p.Leu3116Ter)
c.9338T>G (p.Leu3113Ter)
c.8834T>G (p.Leu2945Ter)
c.8765T>G (p.Leu2922Ter)
c.3551T>G (p.Leu1184Ter)
c.9401T>G (p.Leu3134Ter)
c.9281T>G (p.Leu3094Ter)
c.9212T>G (p.Leu3071Ter)
c.7616T>G (p.Leu2539Ter)
n.9752T>G
6g.51748140A>GCA364420979PKHD1c.9476T>C (p.Leu3159Ser)
c.9347T>C (p.Leu3116Ser)
c.9338T>C (p.Leu3113Ser)
c.8834T>C (p.Leu2945Ser)
c.8765T>C (p.Leu2922Ser)
c.3551T>C (p.Leu1184Ser)
c.9401T>C (p.Leu3134Ser)
c.9281T>C (p.Leu3094Ser)
c.9212T>C (p.Leu3071Ser)
c.7616T>C (p.Leu2539Ser)
n.9752T>C
6g.51748140A>TCA364420977PKHD1c.9476T>A (p.Leu3159Ter)
c.9347T>A (p.Leu3116Ter)
c.9338T>A (p.Leu3113Ter)
c.8834T>A (p.Leu2945Ter)
c.8765T>A (p.Leu2922Ter)
c.3551T>A (p.Leu1184Ter)
c.9401T>A (p.Leu3134Ter)
c.9281T>A (p.Leu3094Ter)
c.9212T>A (p.Leu3071Ter)
c.7616T>A (p.Leu2539Ter)
n.9752T>A
6g.51748141A>CCA364420981PKHD1c.9475T>G (p.Leu3159Val)
c.9346T>G (p.Leu3116Val)
c.9337T>G (p.Leu3113Val)
c.8833T>G (p.Leu2945Val)
c.8764T>G (p.Leu2922Val)
c.3550T>G (p.Leu1184Val)
c.9400T>G (p.Leu3134Val)
c.9280T>G (p.Leu3094Val)
c.9211T>G (p.Leu3071Val)
c.7615T>G (p.Leu2539Val)
n.9751T>G
6g.51748141A>GCA450613503PKHD1c.9475T>C (p.Leu3159=)
c.9346T>C (p.Leu3116=)
c.9337T>C (p.Leu3113=)
c.8833T>C (p.Leu2945=)
c.8764T>C (p.Leu2922=)
c.3550T>C (p.Leu1184=)
c.9400T>C (p.Leu3134=)
c.9280T>C (p.Leu3094=)
c.9211T>C (p.Leu3071=)
c.7615T>C (p.Leu2539=)
n.9751T>C
6g.51748141A>TCA364420980PKHD1c.9475T>A (p.Leu3159Ile)
c.9346T>A (p.Leu3116Ile)
c.9337T>A (p.Leu3113Ile)
c.8833T>A (p.Leu2945Ile)
c.8764T>A (p.Leu2922Ile)
c.3550T>A (p.Leu1184Ile)
c.9400T>A (p.Leu3134Ile)
c.9280T>A (p.Leu3094Ile)
c.9211T>A (p.Leu3071Ile)
c.7615T>A (p.Leu2539Ile)
n.9751T>A
6g.51748142C>ACA364420982PKHD1c.9474G>T (p.Met3158Ile)
c.9345G>T (p.Met3115Ile)
c.9336G>T (p.Met3112Ile)
c.8832G>T (p.Met2944Ile)
c.8763G>T (p.Met2921Ile)
c.3549G>T (p.Met1183Ile)
c.9399G>T (p.Met3133Ile)
c.9279G>T (p.Met3093Ile)
c.9210G>T (p.Met3070Ile)
c.7614G>T (p.Met2538Ile)
n.9750G>T
6g.51748142C=CA1628502606PKHD1c.9474G= (p.Met3158=)
c.9345G= (p.Met3115=)
c.9336G= (p.Met3112=)
c.8832G= (p.Met2944=)
c.8763G= (p.Met2921=)
c.3549G= (p.Met1183=)
c.9399G= (p.Met3133=)
c.9279G= (p.Met3093=)
c.9210G= (p.Met3070=)
c.7614G= (p.Met2538=)
n.9750G=
6g.51748142C>GCA364420983PKHD1c.9474G>C (p.Met3158Ile)
c.9345G>C (p.Met3115Ile)
c.9336G>C (p.Met3112Ile)
c.8832G>C (p.Met2944Ile)
c.8763G>C (p.Met2921Ile)
c.3549G>C (p.Met1183Ile)
c.9399G>C (p.Met3133Ile)
c.9279G>C (p.Met3093Ile)
c.9210G>C (p.Met3070Ile)
c.7614G>C (p.Met2538Ile)
n.9750G>C
6g.51748142C>TCA364420984PKHD1c.9474G>A (p.Met3158Ile)
c.9345G>A (p.Met3115Ile)
c.9336G>A (p.Met3112Ile)
c.8832G>A (p.Met2944Ile)
c.8763G>A (p.Met2921Ile)
c.3549G>A (p.Met1183Ile)
c.9399G>A (p.Met3133Ile)
c.9279G>A (p.Met3093Ile)
c.9210G>A (p.Met3070Ile)
c.7614G>A (p.Met2538Ile)
n.9750G>A
6g.51748143A>CCA364420985PKHD1c.9473T>G (p.Met3158Arg)
c.9344T>G (p.Met3115Arg)
c.9335T>G (p.Met3112Arg)
c.8831T>G (p.Met2944Arg)
c.8762T>G (p.Met2921Arg)
c.3548T>G (p.Met1183Arg)
c.9398T>G (p.Met3133Arg)
c.9278T>G (p.Met3093Arg)
c.9209T>G (p.Met3070Arg)
c.7613T>G (p.Met2538Arg)
n.9749T>G
6g.51748143A>GCA364420986PKHD1c.9473T>C (p.Met3158Thr)
c.9344T>C (p.Met3115Thr)
c.9335T>C (p.Met3112Thr)
c.8831T>C (p.Met2944Thr)
c.8762T>C (p.Met2921Thr)
c.3548T>C (p.Met1183Thr)
c.9398T>C (p.Met3133Thr)
c.9278T>C (p.Met3093Thr)
c.9209T>C (p.Met3070Thr)
c.7613T>C (p.Met2538Thr)
n.9749T>C
 ClinVar
6g.51748143A>TCA364420987PKHD1c.9473T>A (p.Met3158Lys)
c.9344T>A (p.Met3115Lys)
c.9335T>A (p.Met3112Lys)
c.8831T>A (p.Met2944Lys)
c.8762T>A (p.Met2921Lys)
c.3548T>A (p.Met1183Lys)
c.9398T>A (p.Met3133Lys)
c.9278T>A (p.Met3093Lys)
c.9209T>A (p.Met3070Lys)
c.7613T>A (p.Met2538Lys)
n.9749T>A
6g.51748143_51748144delinsATCA1628502620PKHD1c.9472_9473delinsAT (p.Met3158=)
c.9343_9344delinsAT (p.Met3115=)
c.9334_9335delinsAT (p.Met3112=)
c.8830_8831delinsAT (p.Met2944=)
c.8761_8762delinsAT (p.Met2921=)
c.3547_3548delinsAT (p.Met1183=)
c.9397_9398delinsAT (p.Met3133=)
c.9277_9278delinsAT (p.Met3093=)
c.9208_9209delinsAT (p.Met3070=)
c.7612_7613delinsAT (p.Met2538=)
n.9748_9749delinsAT
6g.51748143_51748146dupCA16041033PKHD1c.9470_9473dup (p.Met3158IlefsTer?)
c.9341_9344dup (p.Met3115IlefsTer?)
c.9332_9335dup (p.Met3112IlefsTer?)
c.8828_8831dup (p.Met2944IlefsTer?)
c.8759_8762dup (p.Met2921IlefsTer?)
c.3545_3548dup (p.Met1183IlefsTer?)
c.9395_9398dup (p.Met3133IlefsTer?)
c.9275_9278dup (p.Met3093IlefsTer?)
c.9206_9209dup (p.Met3070IlefsTer?)
c.7610_7613dup (p.Met2538IlefsTer?)
n.9746_9749dup
 ClinVar dbSNP gnomAD v4
6g.51748144delCA825699169PKHD1c.9472del (p.Met3158CysfsTer4)
c.9343del (p.Met3115CysfsTer4)
c.9334del (p.Met3112CysfsTer4)
c.8830del (p.Met2944CysfsTer4)
c.8761del (p.Met2921CysfsTer4)
c.3547del (p.Met1183CysfsTer4)
c.9397del (p.Met3133CysfsTer4)
c.9277del (p.Met3093CysfsTer4)
c.9208del (p.Met3070CysfsTer4)
c.7612del (p.Met2538CysfsTer4)
n.9748del
 dbSNP
6g.51748144T>ACA364420988PKHD1c.9472A>T (p.Met3158Leu)
c.9343A>T (p.Met3115Leu)
c.9334A>T (p.Met3112Leu)
c.8830A>T (p.Met2944Leu)
c.8761A>T (p.Met2921Leu)
c.3547A>T (p.Met1183Leu)
c.9397A>T (p.Met3133Leu)
c.9277A>T (p.Met3093Leu)
c.9208A>T (p.Met3070Leu)
c.7612A>T (p.Met2538Leu)
n.9748A>T
6g.51748144T>CCA3851386PKHD1c.9472A>G (p.Met3158Val)
c.9343A>G (p.Met3115Val)
c.9334A>G (p.Met3112Val)
c.8830A>G (p.Met2944Val)
c.8761A>G (p.Met2921Val)
c.3547A>G (p.Met1183Val)
c.9397A>G (p.Met3133Val)
c.9277A>G (p.Met3093Val)
c.9208A>G (p.Met3070Val)
c.7612A>G (p.Met2538Val)
n.9748A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748144T>GCA364420989PKHD1c.9472A>C (p.Met3158Leu)
c.9343A>C (p.Met3115Leu)
c.9334A>C (p.Met3112Leu)
c.8830A>C (p.Met2944Leu)
c.8761A>C (p.Met2921Leu)
c.3547A>C (p.Met1183Leu)
c.9397A>C (p.Met3133Leu)
c.9277A>C (p.Met3093Leu)
c.9208A>C (p.Met3070Leu)
c.7612A>C (p.Met2538Leu)
n.9748A>C
6g.51748144T=CA1628502627PKHD1c.9472A= (p.Met3158=)
c.9343A= (p.Met3115=)
c.9334A= (p.Met3112=)
c.8830A= (p.Met2944=)
c.8761A= (p.Met2921=)
c.3547A= (p.Met1183=)
c.9397A= (p.Met3133=)
c.9277A= (p.Met3093=)
c.9208A= (p.Met3070=)
c.7612A= (p.Met2538=)
n.9748A=
6g.51748145G>ACA450613511PKHD1c.9471C>T (p.Ala3157=)
c.9342C>T (p.Ala3114=)
c.9333C>T (p.Ala3111=)
c.8829C>T (p.Ala2943=)
c.8760C>T (p.Ala2920=)
c.3546C>T (p.Ala1182=)
c.9396C>T (p.Ala3132=)
c.9276C>T (p.Ala3092=)
c.9207C>T (p.Ala3069=)
c.7611C>T (p.Ala2537=)
n.9747C>T
6g.51748145G>CCA450613512PKHD1c.9471C>G (p.Ala3157=)
c.9342C>G (p.Ala3114=)
c.9333C>G (p.Ala3111=)
c.8829C>G (p.Ala2943=)
c.8760C>G (p.Ala2920=)
c.3546C>G (p.Ala1182=)
c.9396C>G (p.Ala3132=)
c.9276C>G (p.Ala3092=)
c.9207C>G (p.Ala3069=)
c.7611C>G (p.Ala2537=)
n.9747C>G
6g.51748145G>TCA450613514PKHD1c.9471C>A (p.Ala3157=)
c.9342C>A (p.Ala3114=)
c.9333C>A (p.Ala3111=)
c.8829C>A (p.Ala2943=)
c.8760C>A (p.Ala2920=)
c.3546C>A (p.Ala1182=)
c.9396C>A (p.Ala3132=)
c.9276C>A (p.Ala3092=)
c.9207C>A (p.Ala3069=)
c.7611C>A (p.Ala2537=)
n.9747C>A
6g.51748146delCA2679078634PKHD1c.9471del (p.Met3158CysfsTer4)
c.9342del (p.Met3115CysfsTer4)
c.9333del (p.Met3112CysfsTer4)
c.8829del (p.Met2944CysfsTer4)
c.8760del (p.Met2921CysfsTer4)
c.3546del (p.Met1183CysfsTer4)
c.9396del (p.Met3133CysfsTer4)
c.9276del (p.Met3093CysfsTer4)
c.9207del (p.Met3070CysfsTer4)
c.7611del (p.Met2538CysfsTer4)
n.9747del
 gnomAD v4
6g.51748146G>ACA364420990PKHD1c.9470C>T (p.Ala3157Val)
c.9341C>T (p.Ala3114Val)
c.9332C>T (p.Ala3111Val)
c.8828C>T (p.Ala2943Val)
c.8759C>T (p.Ala2920Val)
c.3545C>T (p.Ala1182Val)
c.9395C>T (p.Ala3132Val)
c.9275C>T (p.Ala3092Val)
c.9206C>T (p.Ala3069Val)
c.7610C>T (p.Ala2537Val)
n.9746C>T
 dbSNP gnomAD v3 gnomAD v4
6g.51748146G>CCA364420991PKHD1c.9470C>G (p.Ala3157Gly)
c.9341C>G (p.Ala3114Gly)
c.9332C>G (p.Ala3111Gly)
c.8828C>G (p.Ala2943Gly)
c.8759C>G (p.Ala2920Gly)
c.3545C>G (p.Ala1182Gly)
c.9395C>G (p.Ala3132Gly)
c.9275C>G (p.Ala3092Gly)
c.9206C>G (p.Ala3069Gly)
c.7610C>G (p.Ala2537Gly)
n.9746C>G
6g.51748146G=CA1628502636PKHD1c.9470C= (p.Ala3157=)
c.9341C= (p.Ala3114=)
c.9332C= (p.Ala3111=)
c.8828C= (p.Ala2943=)
c.8759C= (p.Ala2920=)
c.3545C= (p.Ala1182=)
c.9395C= (p.Ala3132=)
c.9275C= (p.Ala3092=)
c.9206C= (p.Ala3069=)
c.7610C= (p.Ala2537=)
n.9746C=
6g.51748146G>TCA364420992PKHD1c.9470C>A (p.Ala3157Asp)
c.9341C>A (p.Ala3114Asp)
c.9332C>A (p.Ala3111Asp)
c.8828C>A (p.Ala2943Asp)
c.8759C>A (p.Ala2920Asp)
c.3545C>A (p.Ala1182Asp)
c.9395C>A (p.Ala3132Asp)
c.9275C>A (p.Ala3092Asp)
c.9206C>A (p.Ala3069Asp)
c.7610C>A (p.Ala2537Asp)
n.9746C>A
6g.51748146_51748147delinsGCCA1628502635PKHD1c.9469_9470delinsGC (p.Ala3157=)
c.9340_9341delinsGC (p.Ala3114=)
c.9331_9332delinsGC (p.Ala3111=)
c.8827_8828delinsGC (p.Ala2943=)
c.8758_8759delinsGC (p.Ala2920=)
c.3544_3545delinsGC (p.Ala1182=)
c.9394_9395delinsGC (p.Ala3132=)
c.9274_9275delinsGC (p.Ala3092=)
c.9205_9206delinsGC (p.Ala3069=)
c.7609_7610delinsGC (p.Ala2537=)
n.9745_9746delinsGC
6g.51748146_51748147delinsTTCA10582453PKHD1c.9469_9470delinsAA (p.Ala3157Asn)
c.9340_9341delinsAA (p.Ala3114Asn)
c.9331_9332delinsAA (p.Ala3111Asn)
c.8827_8828delinsAA (p.Ala2943Asn)
c.8758_8759delinsAA (p.Ala2920Asn)
c.3544_3545delinsAA (p.Ala1182Asn)
c.9394_9395delinsAA (p.Ala3132Asn)
c.9274_9275delinsAA (p.Ala3092Asn)
c.9205_9206delinsAA (p.Ala3069Asn)
c.7609_7610delinsAA (p.Ala2537Asn)
n.9745_9746delinsAA
 ClinVar dbSNP
6g.51748147C>ACA364420993PKHD1c.9469G>T (p.Ala3157Ser)
c.9340G>T (p.Ala3114Ser)
c.9331G>T (p.Ala3111Ser)
c.8827G>T (p.Ala2943Ser)
c.8758G>T (p.Ala2920Ser)
c.3544G>T (p.Ala1182Ser)
c.9394G>T (p.Ala3132Ser)
c.9274G>T (p.Ala3092Ser)
c.9205G>T (p.Ala3069Ser)
c.7609G>T (p.Ala2537Ser)
n.9745G>T
6g.51748147C>GCA364420995PKHD1c.9469G>C (p.Ala3157Pro)
c.9340G>C (p.Ala3114Pro)
c.9331G>C (p.Ala3111Pro)
c.8827G>C (p.Ala2943Pro)
c.8758G>C (p.Ala2920Pro)
c.3544G>C (p.Ala1182Pro)
c.9394G>C (p.Ala3132Pro)
c.9274G>C (p.Ala3092Pro)
c.9205G>C (p.Ala3069Pro)
c.7609G>C (p.Ala2537Pro)
n.9745G>C
6g.51748147C>TCA364420994PKHD1c.9469G>A (p.Ala3157Thr)
c.9340G>A (p.Ala3114Thr)
c.9331G>A (p.Ala3111Thr)
c.8827G>A (p.Ala2943Thr)
c.8758G>A (p.Ala2920Thr)
c.3544G>A (p.Ala1182Thr)
c.9394G>A (p.Ala3132Thr)
c.9274G>A (p.Ala3092Thr)
c.9205G>A (p.Ala3069Thr)
c.7609G>A (p.Ala2537Thr)
n.9745G>A
 gnomAD v4
6g.51748148A=CA1628502642PKHD1c.9468T= (p.Gly3156=)
c.9339T= (p.Gly3113=)
c.9330T= (p.Gly3110=)
c.8826T= (p.Gly2942=)
c.8757T= (p.Gly2919=)
c.3543T= (p.Gly1181=)
c.9393T= (p.Gly3131=)
c.9273T= (p.Gly3091=)
c.9204T= (p.Gly3068=)
c.7608T= (p.Gly2536=)
n.9744T=
6g.51748148A>CCA450613521PKHD1c.9468T>G (p.Gly3156=)
c.9339T>G (p.Gly3113=)
c.9330T>G (p.Gly3110=)
c.8826T>G (p.Gly2942=)
c.8757T>G (p.Gly2919=)
c.3543T>G (p.Gly1181=)
c.9393T>G (p.Gly3131=)
c.9273T>G (p.Gly3091=)
c.9204T>G (p.Gly3068=)
c.7608T>G (p.Gly2536=)
n.9744T>G
 gnomAD v4
6g.51748148A>GCA3851387PKHD1c.9468T>C (p.Gly3156=)
c.9339T>C (p.Gly3113=)
c.9330T>C (p.Gly3110=)
c.8826T>C (p.Gly2942=)
c.8757T>C (p.Gly2919=)
c.3543T>C (p.Gly1181=)
c.9393T>C (p.Gly3131=)
c.9273T>C (p.Gly3091=)
c.9204T>C (p.Gly3068=)
c.7608T>C (p.Gly2536=)
n.9744T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748148A>TCA450613522PKHD1c.9468T>A (p.Gly3156=)
c.9339T>A (p.Gly3113=)
c.9330T>A (p.Gly3110=)
c.8826T>A (p.Gly2942=)
c.8757T>A (p.Gly2919=)
c.3543T>A (p.Gly1181=)
c.9393T>A (p.Gly3131=)
c.9273T>A (p.Gly3091=)
c.9204T>A (p.Gly3068=)
c.7608T>A (p.Gly2536=)
n.9744T>A
6g.51748149C>ACA364420996PKHD1c.9467G>T (p.Gly3156Val)
c.9338G>T (p.Gly3113Val)
c.9329G>T (p.Gly3110Val)
c.8825G>T (p.Gly2942Val)
c.8756G>T (p.Gly2919Val)
c.3542G>T (p.Gly1181Val)
c.9392G>T (p.Gly3131Val)
c.9272G>T (p.Gly3091Val)
c.9203G>T (p.Gly3068Val)
c.7607G>T (p.Gly2536Val)
n.9743G>T
6g.51748149C=CA1628502648PKHD1c.9467G= (p.Gly3156=)
c.9338G= (p.Gly3113=)
c.9329G= (p.Gly3110=)
c.8825G= (p.Gly2942=)
c.8756G= (p.Gly2919=)
c.3542G= (p.Gly1181=)
c.9392G= (p.Gly3131=)
c.9272G= (p.Gly3091=)
c.9203G= (p.Gly3068=)
c.7607G= (p.Gly2536=)
n.9743G=
6g.51748149C>GCA364420997PKHD1c.9467G>C (p.Gly3156Ala)
c.9338G>C (p.Gly3113Ala)
c.9329G>C (p.Gly3110Ala)
c.8825G>C (p.Gly2942Ala)
c.8756G>C (p.Gly2919Ala)
c.3542G>C (p.Gly1181Ala)
c.9392G>C (p.Gly3131Ala)
c.9272G>C (p.Gly3091Ala)
c.9203G>C (p.Gly3068Ala)
c.7607G>C (p.Gly2536Ala)
n.9743G>C
6g.51748149C>TCA364420998PKHD1c.9467G>A (p.Gly3156Asp)
c.9338G>A (p.Gly3113Asp)
c.9329G>A (p.Gly3110Asp)
c.8825G>A (p.Gly2942Asp)
c.8756G>A (p.Gly2919Asp)
c.3542G>A (p.Gly1181Asp)
c.9392G>A (p.Gly3131Asp)
c.9272G>A (p.Gly3091Asp)
c.9203G>A (p.Gly3068Asp)
c.7607G>A (p.Gly2536Asp)
n.9743G>A
 dbSNP gnomAD v2
6g.51748150C>ACA364420999PKHD1c.9466G>T (p.Gly3156Cys)
c.9337G>T (p.Gly3113Cys)
c.9328G>T (p.Gly3110Cys)
c.8824G>T (p.Gly2942Cys)
c.8755G>T (p.Gly2919Cys)
c.3541G>T (p.Gly1181Cys)
c.9391G>T (p.Gly3131Cys)
c.9271G>T (p.Gly3091Cys)
c.9202G>T (p.Gly3068Cys)
c.7606G>T (p.Gly2536Cys)
n.9742G>T
6g.51748150C>GCA364421000PKHD1c.9466G>C (p.Gly3156Arg)
c.9337G>C (p.Gly3113Arg)
c.9328G>C (p.Gly3110Arg)
c.8824G>C (p.Gly2942Arg)
c.8755G>C (p.Gly2919Arg)
c.3541G>C (p.Gly1181Arg)
c.9391G>C (p.Gly3131Arg)
c.9271G>C (p.Gly3091Arg)
c.9202G>C (p.Gly3068Arg)
c.7606G>C (p.Gly2536Arg)
n.9742G>C
6g.51748150C>TCA364421001PKHD1c.9466G>A (p.Gly3156Ser)
c.9337G>A (p.Gly3113Ser)
c.9328G>A (p.Gly3110Ser)
c.8824G>A (p.Gly2942Ser)
c.8755G>A (p.Gly2919Ser)
c.3541G>A (p.Gly1181Ser)
c.9391G>A (p.Gly3131Ser)
c.9271G>A (p.Gly3091Ser)
c.9202G>A (p.Gly3068Ser)
c.7606G>A (p.Gly2536Ser)
n.9742G>A
6g.51748151A=CA1628502657PKHD1c.9465T= (p.Tyr3155=)
c.9336T= (p.Tyr3112=)
c.9327T= (p.Tyr3109=)
c.8823T= (p.Tyr2941=)
c.8754T= (p.Tyr2918=)
c.3540T= (p.Tyr1180=)
c.9390T= (p.Tyr3130=)
c.9270T= (p.Tyr3090=)
c.9201T= (p.Tyr3067=)
c.7605T= (p.Tyr2535=)
n.9741T=
6g.51748151A>CCA364421002PKHD1c.9465T>G (p.Tyr3155Ter)
c.9336T>G (p.Tyr3112Ter)
c.9327T>G (p.Tyr3109Ter)
c.8823T>G (p.Tyr2941Ter)
c.8754T>G (p.Tyr2918Ter)
c.3540T>G (p.Tyr1180Ter)
c.9390T>G (p.Tyr3130Ter)
c.9270T>G (p.Tyr3090Ter)
c.9201T>G (p.Tyr3067Ter)
c.7605T>G (p.Tyr2535Ter)
n.9741T>G
6g.51748151A>GCA450613531PKHD1c.9465T>C (p.Tyr3155=)
c.9336T>C (p.Tyr3112=)
c.9327T>C (p.Tyr3109=)
c.8823T>C (p.Tyr2941=)
c.8754T>C (p.Tyr2918=)
c.3540T>C (p.Tyr1180=)
c.9390T>C (p.Tyr3130=)
c.9270T>C (p.Tyr3090=)
c.9201T>C (p.Tyr3067=)
c.7605T>C (p.Tyr2535=)
n.9741T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51748151A>TCA364421003PKHD1c.9465T>A (p.Tyr3155Ter)
c.9336T>A (p.Tyr3112Ter)
c.9327T>A (p.Tyr3109Ter)
c.8823T>A (p.Tyr2941Ter)
c.8754T>A (p.Tyr2918Ter)
c.3540T>A (p.Tyr1180Ter)
c.9390T>A (p.Tyr3130Ter)
c.9270T>A (p.Tyr3090Ter)
c.9201T>A (p.Tyr3067Ter)
c.7605T>A (p.Tyr2535Ter)
n.9741T>A
6g.51748152T>ACA364421004PKHD1c.9464A>T (p.Tyr3155Phe)
c.9335A>T (p.Tyr3112Phe)
c.9326A>T (p.Tyr3109Phe)
c.8822A>T (p.Tyr2941Phe)
c.8753A>T (p.Tyr2918Phe)
c.3539A>T (p.Tyr1180Phe)
c.9389A>T (p.Tyr3130Phe)
c.9269A>T (p.Tyr3090Phe)
c.9200A>T (p.Tyr3067Phe)
c.7604A>T (p.Tyr2535Phe)
n.9740A>T
6g.51748152T>CCA138896240PKHD1c.9464A>G (p.Tyr3155Cys)
c.9335A>G (p.Tyr3112Cys)
c.9326A>G (p.Tyr3109Cys)
c.8822A>G (p.Tyr2941Cys)
c.8753A>G (p.Tyr2918Cys)
c.3539A>G (p.Tyr1180Cys)
c.9389A>G (p.Tyr3130Cys)
c.9269A>G (p.Tyr3090Cys)
c.9200A>G (p.Tyr3067Cys)
c.7604A>G (p.Tyr2535Cys)
n.9740A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51748152T>GCA364421005PKHD1c.9464A>C (p.Tyr3155Ser)
c.9335A>C (p.Tyr3112Ser)
c.9326A>C (p.Tyr3109Ser)
c.8822A>C (p.Tyr2941Ser)
c.8753A>C (p.Tyr2918Ser)
c.3539A>C (p.Tyr1180Ser)
c.9389A>C (p.Tyr3130Ser)
c.9269A>C (p.Tyr3090Ser)
c.9200A>C (p.Tyr3067Ser)
c.7604A>C (p.Tyr2535Ser)
n.9740A>C
6g.51748152T=CA1628502662PKHD1c.9464A= (p.Tyr3155=)
c.9335A= (p.Tyr3112=)
c.9326A= (p.Tyr3109=)
c.8822A= (p.Tyr2941=)
c.8753A= (p.Tyr2918=)
c.3539A= (p.Tyr1180=)
c.9389A= (p.Tyr3130=)
c.9269A= (p.Tyr3090=)
c.9200A= (p.Tyr3067=)
c.7604A= (p.Tyr2535=)
n.9740A=
6g.51748153A>CCA364421006PKHD1c.9463T>G (p.Tyr3155Asp)
c.9334T>G (p.Tyr3112Asp)
c.9325T>G (p.Tyr3109Asp)
c.8821T>G (p.Tyr2941Asp)
c.8752T>G (p.Tyr2918Asp)
c.3538T>G (p.Tyr1180Asp)
c.9388T>G (p.Tyr3130Asp)
c.9268T>G (p.Tyr3090Asp)
c.9199T>G (p.Tyr3067Asp)
c.7603T>G (p.Tyr2535Asp)
n.9739T>G
6g.51748153A>GCA364421008PKHD1c.9463T>C (p.Tyr3155His)
c.9334T>C (p.Tyr3112His)
c.9325T>C (p.Tyr3109His)
c.8821T>C (p.Tyr2941His)
c.8752T>C (p.Tyr2918His)
c.3538T>C (p.Tyr1180His)
c.9388T>C (p.Tyr3130His)
c.9268T>C (p.Tyr3090His)
c.9199T>C (p.Tyr3067His)
c.7603T>C (p.Tyr2535His)
n.9739T>C
6g.51748153A>TCA364421007PKHD1c.9463T>A (p.Tyr3155Asn)
c.9334T>A (p.Tyr3112Asn)
c.9325T>A (p.Tyr3109Asn)
c.8821T>A (p.Tyr2941Asn)
c.8752T>A (p.Tyr2918Asn)
c.3538T>A (p.Tyr1180Asn)
c.9388T>A (p.Tyr3130Asn)
c.9268T>A (p.Tyr3090Asn)
c.9199T>A (p.Tyr3067Asn)
c.7603T>A (p.Tyr2535Asn)
n.9739T>A
6g.51748154G>ACA450613542PKHD1c.9462C>T (p.Asp3154=)
c.9333C>T (p.Asp3111=)
c.9324C>T (p.Asp3108=)
c.8820C>T (p.Asp2940=)
c.8751C>T (p.Asp2917=)
c.3537C>T (p.Asp1179=)
c.9387C>T (p.Asp3129=)
c.9267C>T (p.Asp3089=)
c.9198C>T (p.Asp3066=)
c.7602C>T (p.Asp2534=)
n.9738C>T
 ClinVar dbSNP gnomAD v4
6g.51748154G>CCA364421009PKHD1c.9462C>G (p.Asp3154Glu)
c.9333C>G (p.Asp3111Glu)
c.9324C>G (p.Asp3108Glu)
c.8820C>G (p.Asp2940Glu)
c.8751C>G (p.Asp2917Glu)
c.3537C>G (p.Asp1179Glu)
c.9387C>G (p.Asp3129Glu)
c.9267C>G (p.Asp3089Glu)
c.9198C>G (p.Asp3066Glu)
c.7602C>G (p.Asp2534Glu)
n.9738C>G
6g.51748154G=CA1628502668PKHD1c.9462C= (p.Asp3154=)
c.9333C= (p.Asp3111=)
c.9324C= (p.Asp3108=)
c.8820C= (p.Asp2940=)
c.8751C= (p.Asp2917=)
c.3537C= (p.Asp1179=)
c.9387C= (p.Asp3129=)
c.9267C= (p.Asp3089=)
c.9198C= (p.Asp3066=)
c.7602C= (p.Asp2534=)
n.9738C=
6g.51748154G>TCA364421010PKHD1c.9462C>A (p.Asp3154Glu)
c.9333C>A (p.Asp3111Glu)
c.9324C>A (p.Asp3108Glu)
c.8820C>A (p.Asp2940Glu)
c.8751C>A (p.Asp2917Glu)
c.3537C>A (p.Asp1179Glu)
c.9387C>A (p.Asp3129Glu)
c.9267C>A (p.Asp3089Glu)
c.9198C>A (p.Asp3066Glu)
c.7602C>A (p.Asp2534Glu)
n.9738C>A
6g.51748155T>ACA364421011PKHD1c.9461A>T (p.Asp3154Val)
c.9332A>T (p.Asp3111Val)
c.9323A>T (p.Asp3108Val)
c.8819A>T (p.Asp2940Val)
c.8750A>T (p.Asp2917Val)
c.3536A>T (p.Asp1179Val)
c.9386A>T (p.Asp3129Val)
c.9266A>T (p.Asp3089Val)
c.9197A>T (p.Asp3066Val)
c.7601A>T (p.Asp2534Val)
n.9737A>T
6g.51748155T>CCA364421012PKHD1c.9461A>G (p.Asp3154Gly)
c.9332A>G (p.Asp3111Gly)
c.9323A>G (p.Asp3108Gly)
c.8819A>G (p.Asp2940Gly)
c.8750A>G (p.Asp2917Gly)
c.3536A>G (p.Asp1179Gly)
c.9386A>G (p.Asp3129Gly)
c.9266A>G (p.Asp3089Gly)
c.9197A>G (p.Asp3066Gly)
c.7601A>G (p.Asp2534Gly)
n.9737A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51748155T>GCA364421013PKHD1c.9461A>C (p.Asp3154Ala)
c.9332A>C (p.Asp3111Ala)
c.9323A>C (p.Asp3108Ala)
c.8819A>C (p.Asp2940Ala)
c.8750A>C (p.Asp2917Ala)
c.3536A>C (p.Asp1179Ala)
c.9386A>C (p.Asp3129Ala)
c.9266A>C (p.Asp3089Ala)
c.9197A>C (p.Asp3066Ala)
c.7601A>C (p.Asp2534Ala)
n.9737A>C
6g.51748155T=CA1628502673PKHD1c.9461A= (p.Asp3154=)
c.9332A= (p.Asp3111=)
c.9323A= (p.Asp3108=)
c.8819A= (p.Asp2940=)
c.8750A= (p.Asp2917=)
c.3536A= (p.Asp1179=)
c.9386A= (p.Asp3129=)
c.9266A= (p.Asp3089=)
c.9197A= (p.Asp3066=)
c.7601A= (p.Asp2534=)
n.9737A=
6g.51748156C>ACA364421014PKHD1c.9460G>T (p.Asp3154Tyr)
c.9331G>T (p.Asp3111Tyr)
c.9322G>T (p.Asp3108Tyr)
c.8818G>T (p.Asp2940Tyr)
c.8749G>T (p.Asp2917Tyr)
c.3535G>T (p.Asp1179Tyr)
c.9385G>T (p.Asp3129Tyr)
c.9265G>T (p.Asp3089Tyr)
c.9196G>T (p.Asp3066Tyr)
c.7600G>T (p.Asp2534Tyr)
n.9736G>T
6g.51748156C>GCA364421015PKHD1c.9460G>C (p.Asp3154His)
c.9331G>C (p.Asp3111His)
c.9322G>C (p.Asp3108His)
c.8818G>C (p.Asp2940His)
c.8749G>C (p.Asp2917His)
c.3535G>C (p.Asp1179His)
c.9385G>C (p.Asp3129His)
c.9265G>C (p.Asp3089His)
c.9196G>C (p.Asp3066His)
c.7600G>C (p.Asp2534His)
n.9736G>C
6g.51748156C>TCA364421016PKHD1c.9460G>A (p.Asp3154Asn)
c.9331G>A (p.Asp3111Asn)
c.9322G>A (p.Asp3108Asn)
c.8818G>A (p.Asp2940Asn)
c.8749G>A (p.Asp2917Asn)
c.3535G>A (p.Asp1179Asn)
c.9385G>A (p.Asp3129Asn)
c.9265G>A (p.Asp3089Asn)
c.9196G>A (p.Asp3066Asn)
c.7600G>A (p.Asp2534Asn)
n.9736G>A
 ClinVar dbSNP
6g.51748157A>CCA364421017PKHD1c.9459T>G (p.Phe3153Leu)
c.9330T>G (p.Phe3110Leu)
c.9321T>G (p.Phe3107Leu)
c.8817T>G (p.Phe2939Leu)
c.8748T>G (p.Phe2916Leu)
c.3534T>G (p.Phe1178Leu)
c.9384T>G (p.Phe3128Leu)
c.9264T>G (p.Phe3088Leu)
c.9195T>G (p.Phe3065Leu)
c.7599T>G (p.Phe2533Leu)
n.9735T>G
 COSMIC COSMIC
6g.51748157A>GCA450613548PKHD1c.9459T>C (p.Phe3153=)
c.9330T>C (p.Phe3110=)
c.9321T>C (p.Phe3107=)
c.8817T>C (p.Phe2939=)
c.8748T>C (p.Phe2916=)
c.3534T>C (p.Phe1178=)
c.9384T>C (p.Phe3128=)
c.9264T>C (p.Phe3088=)
c.9195T>C (p.Phe3065=)
c.7599T>C (p.Phe2533=)
n.9735T>C
6g.51748157A>TCA364421018PKHD1c.9459T>A (p.Phe3153Leu)
c.9330T>A (p.Phe3110Leu)
c.9321T>A (p.Phe3107Leu)
c.8817T>A (p.Phe2939Leu)
c.8748T>A (p.Phe2916Leu)
c.3534T>A (p.Phe1178Leu)
c.9384T>A (p.Phe3128Leu)
c.9264T>A (p.Phe3088Leu)
c.9195T>A (p.Phe3065Leu)
c.7599T>A (p.Phe2533Leu)
n.9735T>A
6g.51748158A>CCA364421019PKHD1c.9458T>G (p.Phe3153Cys)
c.9329T>G (p.Phe3110Cys)
c.9320T>G (p.Phe3107Cys)
c.8816T>G (p.Phe2939Cys)
c.8747T>G (p.Phe2916Cys)
c.3533T>G (p.Phe1178Cys)
c.9383T>G (p.Phe3128Cys)
c.9263T>G (p.Phe3088Cys)
c.9194T>G (p.Phe3065Cys)
c.7598T>G (p.Phe2533Cys)
n.9734T>G
6g.51748158A>GCA364421020PKHD1c.9458T>C (p.Phe3153Ser)
c.9329T>C (p.Phe3110Ser)
c.9320T>C (p.Phe3107Ser)
c.8816T>C (p.Phe2939Ser)
c.8747T>C (p.Phe2916Ser)
c.3533T>C (p.Phe1178Ser)
c.9383T>C (p.Phe3128Ser)
c.9263T>C (p.Phe3088Ser)
c.9194T>C (p.Phe3065Ser)
c.7598T>C (p.Phe2533Ser)
n.9734T>C
6g.51748158A>TCA364421021PKHD1c.9458T>A (p.Phe3153Tyr)
c.9329T>A (p.Phe3110Tyr)
c.9320T>A (p.Phe3107Tyr)
c.8816T>A (p.Phe2939Tyr)
c.8747T>A (p.Phe2916Tyr)
c.3533T>A (p.Phe1178Tyr)
c.9383T>A (p.Phe3128Tyr)
c.9263T>A (p.Phe3088Tyr)
c.9194T>A (p.Phe3065Tyr)
c.7598T>A (p.Phe2533Tyr)
n.9734T>A
6g.51748159A>CCA364421022PKHD1c.9457T>G (p.Phe3153Val)
c.9328T>G (p.Phe3110Val)
c.9319T>G (p.Phe3107Val)
c.8815T>G (p.Phe2939Val)
c.8746T>G (p.Phe2916Val)
c.3532T>G (p.Phe1178Val)
c.9382T>G (p.Phe3128Val)
c.9262T>G (p.Phe3088Val)
c.9193T>G (p.Phe3065Val)
c.7597T>G (p.Phe2533Val)
n.9733T>G
6g.51748159A>GCA364421024PKHD1c.9457T>C (p.Phe3153Leu)
c.9328T>C (p.Phe3110Leu)
c.9319T>C (p.Phe3107Leu)
c.8815T>C (p.Phe2939Leu)
c.8746T>C (p.Phe2916Leu)
c.3532T>C (p.Phe1178Leu)
c.9382T>C (p.Phe3128Leu)
c.9262T>C (p.Phe3088Leu)
c.9193T>C (p.Phe3065Leu)
c.7597T>C (p.Phe2533Leu)
n.9733T>C
 COSMIC COSMIC
6g.51748159A>TCA364421023PKHD1c.9457T>A (p.Phe3153Ile)
c.9328T>A (p.Phe3110Ile)
c.9319T>A (p.Phe3107Ile)
c.8815T>A (p.Phe2939Ile)
c.8746T>A (p.Phe2916Ile)
c.3532T>A (p.Phe1178Ile)
c.9382T>A (p.Phe3128Ile)
c.9262T>A (p.Phe3088Ile)
c.9193T>A (p.Phe3065Ile)
c.7597T>A (p.Phe2533Ile)
n.9733T>A
6g.51748160G>ACA450613551PKHD1c.9456C>T (p.Asn3152=)
c.9327C>T (p.Asn3109=)
c.9318C>T (p.Asn3106=)
c.8814C>T (p.Asn2938=)
c.8745C>T (p.Asn2915=)
c.3531C>T (p.Asn1177=)
c.9381C>T (p.Asn3127=)
c.9261C>T (p.Asn3087=)
c.9192C>T (p.Asn3064=)
c.7596C>T (p.Asn2532=)
n.9732C>T
6g.51748160G>CCA364421025PKHD1c.9456C>G (p.Asn3152Lys)
c.9327C>G (p.Asn3109Lys)
c.9318C>G (p.Asn3106Lys)
c.8814C>G (p.Asn2938Lys)
c.8745C>G (p.Asn2915Lys)
c.3531C>G (p.Asn1177Lys)
c.9381C>G (p.Asn3127Lys)
c.9261C>G (p.Asn3087Lys)
c.9192C>G (p.Asn3064Lys)
c.7596C>G (p.Asn2532Lys)
n.9732C>G
6g.51748160G>TCA364421026PKHD1c.9456C>A (p.Asn3152Lys)
c.9327C>A (p.Asn3109Lys)
c.9318C>A (p.Asn3106Lys)
c.8814C>A (p.Asn2938Lys)
c.8745C>A (p.Asn2915Lys)
c.3531C>A (p.Asn1177Lys)
c.9381C>A (p.Asn3127Lys)
c.9261C>A (p.Asn3087Lys)
c.9192C>A (p.Asn3064Lys)
c.7596C>A (p.Asn2532Lys)
n.9732C>A
6g.51748161T>ACA364421027PKHD1c.9455A>T (p.Asn3152Ile)
c.9326A>T (p.Asn3109Ile)
c.9317A>T (p.Asn3106Ile)
c.8813A>T (p.Asn2938Ile)
c.8744A>T (p.Asn2915Ile)
c.3530A>T (p.Asn1177Ile)
c.9380A>T (p.Asn3127Ile)
c.9260A>T (p.Asn3087Ile)
c.9191A>T (p.Asn3064Ile)
c.7595A>T (p.Asn2532Ile)
n.9731A>T
6g.51748161T>CCA364421028PKHD1c.9455A>G (p.Asn3152Ser)
c.9326A>G (p.Asn3109Ser)
c.9317A>G (p.Asn3106Ser)
c.8813A>G (p.Asn2938Ser)
c.8744A>G (p.Asn2915Ser)
c.3530A>G (p.Asn1177Ser)
c.9380A>G (p.Asn3127Ser)
c.9260A>G (p.Asn3087Ser)
c.9191A>G (p.Asn3064Ser)
c.7595A>G (p.Asn2532Ser)
n.9731A>G
6g.51748161T>GCA364421029PKHD1c.9455A>C (p.Asn3152Thr)
c.9326A>C (p.Asn3109Thr)
c.9317A>C (p.Asn3106Thr)
c.8813A>C (p.Asn2938Thr)
c.8744A>C (p.Asn2915Thr)
c.3530A>C (p.Asn1177Thr)
c.9380A>C (p.Asn3127Thr)
c.9260A>C (p.Asn3087Thr)
c.9191A>C (p.Asn3064Thr)
c.7595A>C (p.Asn2532Thr)
n.9731A>C
6g.51748162delCA2695198858PKHD1c.9455del (p.Asn3152ThrfsTer10)
c.9326del (p.Asn3109ThrfsTer10)
c.9317del (p.Asn3106ThrfsTer10)
c.8813del (p.Asn2938ThrfsTer10)
c.8744del (p.Asn2915ThrfsTer10)
c.3530del (p.Asn1177ThrfsTer10)
c.9380del (p.Asn3127ThrfsTer10)
c.9260del (p.Asn3087ThrfsTer10)
c.9191del (p.Asn3064ThrfsTer10)
c.7595del (p.Asn2532ThrfsTer10)
n.9731del
 ClinVar
6g.51748162T>ACA364421030PKHD1c.9454A>T (p.Asn3152Tyr)
c.9325A>T (p.Asn3109Tyr)
c.9316A>T (p.Asn3106Tyr)
c.8812A>T (p.Asn2938Tyr)
c.8743A>T (p.Asn2915Tyr)
c.3529A>T (p.Asn1177Tyr)
c.9379A>T (p.Asn3127Tyr)
c.9259A>T (p.Asn3087Tyr)
c.9190A>T (p.Asn3064Tyr)
c.7594A>T (p.Asn2532Tyr)
n.9730A>T
6g.51748162T>CCA364421031PKHD1c.9454A>G (p.Asn3152Asp)
c.9325A>G (p.Asn3109Asp)
c.9316A>G (p.Asn3106Asp)
c.8812A>G (p.Asn2938Asp)
c.8743A>G (p.Asn2915Asp)
c.3529A>G (p.Asn1177Asp)
c.9379A>G (p.Asn3127Asp)
c.9259A>G (p.Asn3087Asp)
c.9190A>G (p.Asn3064Asp)
c.7594A>G (p.Asn2532Asp)
n.9730A>G
6g.51748162T>GCA364421032PKHD1c.9454A>C (p.Asn3152His)
c.9325A>C (p.Asn3109His)
c.9316A>C (p.Asn3106His)
c.8812A>C (p.Asn2938His)
c.8743A>C (p.Asn2915His)
c.3529A>C (p.Asn1177His)
c.9379A>C (p.Asn3127His)
c.9259A>C (p.Asn3087His)
c.9190A>C (p.Asn3064His)
c.7594A>C (p.Asn2532His)
n.9730A>C
6g.51748163C>ACA364421033PKHD1c.9453G>T (p.Lys3151Asn)
c.9324G>T (p.Lys3108Asn)
c.9315G>T (p.Lys3105Asn)
c.8811G>T (p.Lys2937Asn)
c.8742G>T (p.Lys2914Asn)
c.3528G>T (p.Lys1176Asn)
c.9378G>T (p.Lys3126Asn)
c.9258G>T (p.Lys3086Asn)
c.9189G>T (p.Lys3063Asn)
c.7593G>T (p.Lys2531Asn)
n.9729G>T
6g.51748163C>GCA364421034PKHD1c.9453G>C (p.Lys3151Asn)
c.9324G>C (p.Lys3108Asn)
c.9315G>C (p.Lys3105Asn)
c.8811G>C (p.Lys2937Asn)
c.8742G>C (p.Lys2914Asn)
c.3528G>C (p.Lys1176Asn)
c.9378G>C (p.Lys3126Asn)
c.9258G>C (p.Lys3086Asn)
c.9189G>C (p.Lys3063Asn)
c.7593G>C (p.Lys2531Asn)
n.9729G>C
6g.51748163C>TCA450613559PKHD1c.9453G>A (p.Lys3151=)
c.9324G>A (p.Lys3108=)
c.9315G>A (p.Lys3105=)
c.8811G>A (p.Lys2937=)
c.8742G>A (p.Lys2914=)
c.3528G>A (p.Lys1176=)
c.9378G>A (p.Lys3126=)
c.9258G>A (p.Lys3086=)
c.9189G>A (p.Lys3063=)
c.7593G>A (p.Lys2531=)
n.9729G>A
6g.51748164T>ACA364421036PKHD1c.9452A>T (p.Lys3151Met)
c.9323A>T (p.Lys3108Met)
c.9314A>T (p.Lys3105Met)
c.8810A>T (p.Lys2937Met)
c.8741A>T (p.Lys2914Met)
c.3527A>T (p.Lys1176Met)
c.9377A>T (p.Lys3126Met)
c.9257A>T (p.Lys3086Met)
c.9188A>T (p.Lys3063Met)
c.7592A>T (p.Lys2531Met)
n.9728A>T
6g.51748164T>CCA3851388PKHD1c.9452A>G (p.Lys3151Arg)
c.9323A>G (p.Lys3108Arg)
c.9314A>G (p.Lys3105Arg)
c.8810A>G (p.Lys2937Arg)
c.8741A>G (p.Lys2914Arg)
c.3527A>G (p.Lys1176Arg)
c.9377A>G (p.Lys3126Arg)
c.9257A>G (p.Lys3086Arg)
c.9188A>G (p.Lys3063Arg)
c.7592A>G (p.Lys2531Arg)
n.9728A>G
 dbSNP ExAC gnomAD v2
6g.51748164T>GCA364421035PKHD1c.9452A>C (p.Lys3151Thr)
c.9323A>C (p.Lys3108Thr)
c.9314A>C (p.Lys3105Thr)
c.8810A>C (p.Lys2937Thr)
c.8741A>C (p.Lys2914Thr)
c.3527A>C (p.Lys1176Thr)
c.9377A>C (p.Lys3126Thr)
c.9257A>C (p.Lys3086Thr)
c.9188A>C (p.Lys3063Thr)
c.7592A>C (p.Lys2531Thr)
n.9728A>C
6g.51748164T=CA1628502677PKHD1c.9452A= (p.Lys3151=)
c.9323A= (p.Lys3108=)
c.9314A= (p.Lys3105=)
c.8810A= (p.Lys2937=)
c.8741A= (p.Lys2914=)
c.3527A= (p.Lys1176=)
c.9377A= (p.Lys3126=)
c.9257A= (p.Lys3086=)
c.9188A= (p.Lys3063=)
c.7592A= (p.Lys2531=)
n.9728A=
6g.51748165T>ACA364421037PKHD1c.9451A>T (p.Lys3151Ter)
c.9322A>T (p.Lys3108Ter)
c.9313A>T (p.Lys3105Ter)
c.8809A>T (p.Lys2937Ter)
c.8740A>T (p.Lys2914Ter)
c.3526A>T (p.Lys1176Ter)
c.9376A>T (p.Lys3126Ter)
c.9256A>T (p.Lys3086Ter)
c.9187A>T (p.Lys3063Ter)
c.7591A>T (p.Lys2531Ter)
n.9727A>T
6g.51748165T>CCA364421038PKHD1c.9451A>G (p.Lys3151Glu)
c.9322A>G (p.Lys3108Glu)
c.9313A>G (p.Lys3105Glu)
c.8809A>G (p.Lys2937Glu)
c.8740A>G (p.Lys2914Glu)
c.3526A>G (p.Lys1176Glu)
c.9376A>G (p.Lys3126Glu)
c.9256A>G (p.Lys3086Glu)
c.9187A>G (p.Lys3063Glu)
c.7591A>G (p.Lys2531Glu)
n.9727A>G
6g.51748165T>GCA364421039PKHD1c.9451A>C (p.Lys3151Gln)
c.9322A>C (p.Lys3108Gln)
c.9313A>C (p.Lys3105Gln)
c.8809A>C (p.Lys2937Gln)
c.8740A>C (p.Lys2914Gln)
c.3526A>C (p.Lys1176Gln)
c.9376A>C (p.Lys3126Gln)
c.9256A>C (p.Lys3086Gln)
c.9187A>C (p.Lys3063Gln)
c.7591A>C (p.Lys2531Gln)
n.9727A>C
6g.51748166G>ACA450613561PKHD1c.9450C>T (p.Phe3150=)
c.9321C>T (p.Phe3107=)
c.9312C>T (p.Phe3104=)
c.8808C>T (p.Phe2936=)
c.8739C>T (p.Phe2913=)
c.3525C>T (p.Phe1175=)
c.9375C>T (p.Phe3125=)
c.9255C>T (p.Phe3085=)
c.9186C>T (p.Phe3062=)
c.7590C>T (p.Phe2530=)
n.9726C>T
6g.51748166G>CCA364421040PKHD1c.9450C>G (p.Phe3150Leu)
c.9321C>G (p.Phe3107Leu)
c.9312C>G (p.Phe3104Leu)
c.8808C>G (p.Phe2936Leu)
c.8739C>G (p.Phe2913Leu)
c.3525C>G (p.Phe1175Leu)
c.9375C>G (p.Phe3125Leu)
c.9255C>G (p.Phe3085Leu)
c.9186C>G (p.Phe3062Leu)
c.7590C>G (p.Phe2530Leu)
n.9726C>G
6g.51748166G>TCA364421041PKHD1c.9450C>A (p.Phe3150Leu)
c.9321C>A (p.Phe3107Leu)
c.9312C>A (p.Phe3104Leu)
c.8808C>A (p.Phe2936Leu)
c.8739C>A (p.Phe2913Leu)
c.3525C>A (p.Phe1175Leu)
c.9375C>A (p.Phe3125Leu)
c.9255C>A (p.Phe3085Leu)
c.9186C>A (p.Phe3062Leu)
c.7590C>A (p.Phe2530Leu)
n.9726C>A
6g.51748167A>CCA364421042PKHD1c.9449T>G (p.Phe3150Cys)
c.9320T>G (p.Phe3107Cys)
c.9311T>G (p.Phe3104Cys)
c.8807T>G (p.Phe2936Cys)
c.8738T>G (p.Phe2913Cys)
c.3524T>G (p.Phe1175Cys)
c.9374T>G (p.Phe3125Cys)
c.9254T>G (p.Phe3085Cys)
c.9185T>G (p.Phe3062Cys)
c.7589T>G (p.Phe2530Cys)
n.9725T>G
6g.51748167A>GCA364421043PKHD1c.9449T>C (p.Phe3150Ser)
c.9320T>C (p.Phe3107Ser)
c.9311T>C (p.Phe3104Ser)
c.8807T>C (p.Phe2936Ser)
c.8738T>C (p.Phe2913Ser)
c.3524T>C (p.Phe1175Ser)
c.9374T>C (p.Phe3125Ser)
c.9254T>C (p.Phe3085Ser)
c.9185T>C (p.Phe3062Ser)
c.7589T>C (p.Phe2530Ser)
n.9725T>C
6g.51748167A>TCA364421044PKHD1c.9449T>A (p.Phe3150Tyr)
c.9320T>A (p.Phe3107Tyr)
c.9311T>A (p.Phe3104Tyr)
c.8807T>A (p.Phe2936Tyr)
c.8738T>A (p.Phe2913Tyr)
c.3524T>A (p.Phe1175Tyr)
c.9374T>A (p.Phe3125Tyr)
c.9254T>A (p.Phe3085Tyr)
c.9185T>A (p.Phe3062Tyr)
c.7589T>A (p.Phe2530Tyr)
n.9725T>A
6g.51748168A>CCA364421045PKHD1c.9448T>G (p.Phe3150Val)
c.9319T>G (p.Phe3107Val)
c.9310T>G (p.Phe3104Val)
c.8806T>G (p.Phe2936Val)
c.8737T>G (p.Phe2913Val)
c.3523T>G (p.Phe1175Val)
c.9373T>G (p.Phe3125Val)
c.9253T>G (p.Phe3085Val)
c.9184T>G (p.Phe3062Val)
c.7588T>G (p.Phe2530Val)
n.9724T>G
6g.51748168A>GCA364421047PKHD1c.9448T>C (p.Phe3150Leu)
c.9319T>C (p.Phe3107Leu)
c.9310T>C (p.Phe3104Leu)
c.8806T>C (p.Phe2936Leu)
c.8737T>C (p.Phe2913Leu)
c.3523T>C (p.Phe1175Leu)
c.9373T>C (p.Phe3125Leu)
c.9253T>C (p.Phe3085Leu)
c.9184T>C (p.Phe3062Leu)
c.7588T>C (p.Phe2530Leu)
n.9724T>C
 ClinVar dbSNP
6g.51748168A>TCA364421046PKHD1c.9448T>A (p.Phe3150Ile)
c.9319T>A (p.Phe3107Ile)
c.9310T>A (p.Phe3104Ile)
c.8806T>A (p.Phe2936Ile)
c.8737T>A (p.Phe2913Ile)
c.3523T>A (p.Phe1175Ile)
c.9373T>A (p.Phe3125Ile)
c.9253T>A (p.Phe3085Ile)
c.9184T>A (p.Phe3062Ile)
c.7588T>A (p.Phe2530Ile)
n.9724T>A
6g.51748169A=CA1628502683PKHD1c.9447T= (p.Ala3149=)
c.9318T= (p.Ala3106=)
c.9309T= (p.Ala3103=)
c.8805T= (p.Ala2935=)
c.8736T= (p.Ala2912=)
c.3522T= (p.Ala1174=)
c.9372T= (p.Ala3124=)
c.9252T= (p.Ala3084=)
c.9183T= (p.Ala3061=)
c.7587T= (p.Ala2529=)
n.9723T=
6g.51748169A>CCA450613566PKHD1c.9447T>G (p.Ala3149=)
c.9318T>G (p.Ala3106=)
c.9309T>G (p.Ala3103=)
c.8805T>G (p.Ala2935=)
c.8736T>G (p.Ala2912=)
c.3522T>G (p.Ala1174=)
c.9372T>G (p.Ala3124=)
c.9252T>G (p.Ala3084=)
c.9183T>G (p.Ala3061=)
c.7587T>G (p.Ala2529=)
n.9723T>G
6g.51748169A>GCA450613568PKHD1c.9447T>C (p.Ala3149=)
c.9318T>C (p.Ala3106=)
c.9309T>C (p.Ala3103=)
c.8805T>C (p.Ala2935=)
c.8736T>C (p.Ala2912=)
c.3522T>C (p.Ala1174=)
c.9372T>C (p.Ala3124=)
c.9252T>C (p.Ala3084=)
c.9183T>C (p.Ala3061=)
c.7587T>C (p.Ala2529=)
n.9723T>C
 gnomAD v4
6g.51748169A>TCA3851389PKHD1c.9447T>A (p.Ala3149=)
c.9318T>A (p.Ala3106=)
c.9309T>A (p.Ala3103=)
c.8805T>A (p.Ala2935=)
c.8736T>A (p.Ala2912=)
c.3522T>A (p.Ala1174=)
c.9372T>A (p.Ala3124=)
c.9252T>A (p.Ala3084=)
c.9183T>A (p.Ala3061=)
c.7587T>A (p.Ala2529=)
n.9723T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748170G>ACA364421048PKHD1c.9446C>T (p.Ala3149Val)
c.9317C>T (p.Ala3106Val)
c.9308C>T (p.Ala3103Val)
c.8804C>T (p.Ala2935Val)
c.8735C>T (p.Ala2912Val)
c.3521C>T (p.Ala1174Val)
c.9371C>T (p.Ala3124Val)
c.9251C>T (p.Ala3084Val)
c.9182C>T (p.Ala3061Val)
c.7586C>T (p.Ala2529Val)
n.9722C>T
 gnomAD v4
6g.51748170G>CCA364421049PKHD1c.9446C>G (p.Ala3149Gly)
c.9317C>G (p.Ala3106Gly)
c.9308C>G (p.Ala3103Gly)
c.8804C>G (p.Ala2935Gly)
c.8735C>G (p.Ala2912Gly)
c.3521C>G (p.Ala1174Gly)
c.9371C>G (p.Ala3124Gly)
c.9251C>G (p.Ala3084Gly)
c.9182C>G (p.Ala3061Gly)
c.7586C>G (p.Ala2529Gly)
n.9722C>G
6g.51748170G>TCA364421050PKHD1c.9446C>A (p.Ala3149Asp)
c.9317C>A (p.Ala3106Asp)
c.9308C>A (p.Ala3103Asp)
c.8804C>A (p.Ala2935Asp)
c.8735C>A (p.Ala2912Asp)
c.3521C>A (p.Ala1174Asp)
c.9371C>A (p.Ala3124Asp)
c.9251C>A (p.Ala3084Asp)
c.9182C>A (p.Ala3061Asp)
c.7586C>A (p.Ala2529Asp)
n.9722C>A
 gnomAD v4
6g.51748171C>ACA364421051PKHD1c.9445G>T (p.Ala3149Ser)
c.9316G>T (p.Ala3106Ser)
c.9307G>T (p.Ala3103Ser)
c.8803G>T (p.Ala2935Ser)
c.8734G>T (p.Ala2912Ser)
c.3520G>T (p.Ala1174Ser)
c.9370G>T (p.Ala3124Ser)
c.9250G>T (p.Ala3084Ser)
c.9181G>T (p.Ala3061Ser)
c.7585G>T (p.Ala2529Ser)
n.9721G>T
6g.51748171C>GCA364421053PKHD1c.9445G>C (p.Ala3149Pro)
c.9316G>C (p.Ala3106Pro)
c.9307G>C (p.Ala3103Pro)
c.8803G>C (p.Ala2935Pro)
c.8734G>C (p.Ala2912Pro)
c.3520G>C (p.Ala1174Pro)
c.9370G>C (p.Ala3124Pro)
c.9250G>C (p.Ala3084Pro)
c.9181G>C (p.Ala3061Pro)
c.7585G>C (p.Ala2529Pro)
n.9721G>C
6g.51748171C>TCA364421052PKHD1c.9445G>A (p.Ala3149Thr)
c.9316G>A (p.Ala3106Thr)
c.9307G>A (p.Ala3103Thr)
c.8803G>A (p.Ala2935Thr)
c.8734G>A (p.Ala2912Thr)
c.3520G>A (p.Ala1174Thr)
c.9370G>A (p.Ala3124Thr)
c.9250G>A (p.Ala3084Thr)
c.9181G>A (p.Ala3061Thr)
c.7585G>A (p.Ala2529Thr)
n.9721G>A
6g.51748172C>ACA364421054PKHD1c.9444G>T (p.Leu3148Phe)
c.9315G>T (p.Leu3105Phe)
c.9306G>T (p.Leu3102Phe)
c.8802G>T (p.Leu2934Phe)
c.8733G>T (p.Leu2911Phe)
c.3519G>T (p.Leu1173Phe)
c.9369G>T (p.Leu3123Phe)
c.9249G>T (p.Leu3083Phe)
c.9180G>T (p.Leu3060Phe)
c.7584G>T (p.Leu2528Phe)
n.9720G>T
6g.51748172C>GCA364421055PKHD1c.9444G>C (p.Leu3148Phe)
c.9315G>C (p.Leu3105Phe)
c.9306G>C (p.Leu3102Phe)
c.8802G>C (p.Leu2934Phe)
c.8733G>C (p.Leu2911Phe)
c.3519G>C (p.Leu1173Phe)
c.9369G>C (p.Leu3123Phe)
c.9249G>C (p.Leu3083Phe)
c.9180G>C (p.Leu3060Phe)
c.7584G>C (p.Leu2528Phe)
n.9720G>C
6g.51748172C>TCA450613703PKHD1c.9444G>A (p.Leu3148=)
c.9315G>A (p.Leu3105=)
c.9306G>A (p.Leu3102=)
c.8802G>A (p.Leu2934=)
c.8733G>A (p.Leu2911=)
c.3519G>A (p.Leu1173=)
c.9369G>A (p.Leu3123=)
c.9249G>A (p.Leu3083=)
c.9180G>A (p.Leu3060=)
c.7584G>A (p.Leu2528=)
n.9720G>A
6g.51748173A>CCA364421056PKHD1c.9443T>G (p.Leu3148Trp)
c.9314T>G (p.Leu3105Trp)
c.9305T>G (p.Leu3102Trp)
c.8801T>G (p.Leu2934Trp)
c.8732T>G (p.Leu2911Trp)
c.3518T>G (p.Leu1173Trp)
c.9368T>G (p.Leu3123Trp)
c.9248T>G (p.Leu3083Trp)
c.9179T>G (p.Leu3060Trp)
c.7583T>G (p.Leu2528Trp)
n.9719T>G
6g.51748173A>GCA364421057PKHD1c.9443T>C (p.Leu3148Ser)
c.9314T>C (p.Leu3105Ser)
c.9305T>C (p.Leu3102Ser)
c.8801T>C (p.Leu2934Ser)
c.8732T>C (p.Leu2911Ser)
c.3518T>C (p.Leu1173Ser)
c.9368T>C (p.Leu3123Ser)
c.9248T>C (p.Leu3083Ser)
c.9179T>C (p.Leu3060Ser)
c.7583T>C (p.Leu2528Ser)
n.9719T>C
6g.51748173A>TCA364421058PKHD1c.9443T>A (p.Leu3148Ter)
c.9314T>A (p.Leu3105Ter)
c.9305T>A (p.Leu3102Ter)
c.8801T>A (p.Leu2934Ter)
c.8732T>A (p.Leu2911Ter)
c.3518T>A (p.Leu1173Ter)
c.9368T>A (p.Leu3123Ter)
c.9248T>A (p.Leu3083Ter)
c.9179T>A (p.Leu3060Ter)
c.7583T>A (p.Leu2528Ter)
n.9719T>A
6g.51748174A>CCA364421059PKHD1c.9442T>G (p.Leu3148Val)
c.9313T>G (p.Leu3105Val)
c.9304T>G (p.Leu3102Val)
c.8800T>G (p.Leu2934Val)
c.8731T>G (p.Leu2911Val)
c.3517T>G (p.Leu1173Val)
c.9367T>G (p.Leu3123Val)
c.9247T>G (p.Leu3083Val)
c.9178T>G (p.Leu3060Val)
c.7582T>G (p.Leu2528Val)
n.9718T>G
6g.51748174A>GCA450613706PKHD1c.9442T>C (p.Leu3148=)
c.9313T>C (p.Leu3105=)
c.9304T>C (p.Leu3102=)
c.8800T>C (p.Leu2934=)
c.8731T>C (p.Leu2911=)
c.3517T>C (p.Leu1173=)
c.9367T>C (p.Leu3123=)
c.9247T>C (p.Leu3083=)
c.9178T>C (p.Leu3060=)
c.7582T>C (p.Leu2528=)
n.9718T>C
6g.51748174A>TCA364421060PKHD1c.9442T>A (p.Leu3148Met)
c.9313T>A (p.Leu3105Met)
c.9304T>A (p.Leu3102Met)
c.8800T>A (p.Leu2934Met)
c.8731T>A (p.Leu2911Met)
c.3517T>A (p.Leu1173Met)
c.9367T>A (p.Leu3123Met)
c.9247T>A (p.Leu3083Met)
c.9178T>A (p.Leu3060Met)
c.7582T>A (p.Leu2528Met)
n.9718T>A
6g.51748175G>ACA450613708PKHD1c.9441C>T (p.Phe3147=)
c.9312C>T (p.Phe3104=)
c.9303C>T (p.Phe3101=)
c.8799C>T (p.Phe2933=)
c.8730C>T (p.Phe2910=)
c.3516C>T (p.Phe1172=)
c.9366C>T (p.Phe3122=)
c.9246C>T (p.Phe3082=)
c.9177C>T (p.Phe3059=)
c.7581C>T (p.Phe2527=)
n.9717C>T
6g.51748175G>CCA364421061PKHD1c.9441C>G (p.Phe3147Leu)
c.9312C>G (p.Phe3104Leu)
c.9303C>G (p.Phe3101Leu)
c.8799C>G (p.Phe2933Leu)
c.8730C>G (p.Phe2910Leu)
c.3516C>G (p.Phe1172Leu)
c.9366C>G (p.Phe3122Leu)
c.9246C>G (p.Phe3082Leu)
c.9177C>G (p.Phe3059Leu)
c.7581C>G (p.Phe2527Leu)
n.9717C>G
 dbSNP
6g.51748175G=CA1628502690PKHD1c.9441C= (p.Phe3147=)
c.9312C= (p.Phe3104=)
c.9303C= (p.Phe3101=)
c.8799C= (p.Phe2933=)
c.8730C= (p.Phe2910=)
c.3516C= (p.Phe1172=)
c.9366C= (p.Phe3122=)
c.9246C= (p.Phe3082=)
c.9177C= (p.Phe3059=)
c.7581C= (p.Phe2527=)
n.9717C=
6g.51748175G>TCA364421062PKHD1c.9441C>A (p.Phe3147Leu)
c.9312C>A (p.Phe3104Leu)
c.9303C>A (p.Phe3101Leu)
c.8799C>A (p.Phe2933Leu)
c.8730C>A (p.Phe2910Leu)
c.3516C>A (p.Phe1172Leu)
c.9366C>A (p.Phe3122Leu)
c.9246C>A (p.Phe3082Leu)
c.9177C>A (p.Phe3059Leu)
c.7581C>A (p.Phe2527Leu)
n.9717C>A
6g.51748176A>CCA364421063PKHD1c.9440T>G (p.Phe3147Cys)
c.9311T>G (p.Phe3104Cys)
c.9302T>G (p.Phe3101Cys)
c.8798T>G (p.Phe2933Cys)
c.8729T>G (p.Phe2910Cys)
c.3515T>G (p.Phe1172Cys)
c.9365T>G (p.Phe3122Cys)
c.9245T>G (p.Phe3082Cys)
c.9176T>G (p.Phe3059Cys)
c.7580T>G (p.Phe2527Cys)
n.9716T>G
6g.51748176A>GCA364421064PKHD1c.9440T>C (p.Phe3147Ser)
c.9311T>C (p.Phe3104Ser)
c.9302T>C (p.Phe3101Ser)
c.8798T>C (p.Phe2933Ser)
c.8729T>C (p.Phe2910Ser)
c.3515T>C (p.Phe1172Ser)
c.9365T>C (p.Phe3122Ser)
c.9245T>C (p.Phe3082Ser)
c.9176T>C (p.Phe3059Ser)
c.7580T>C (p.Phe2527Ser)
n.9716T>C
6g.51748176A>TCA364421065PKHD1c.9440T>A (p.Phe3147Tyr)
c.9311T>A (p.Phe3104Tyr)
c.9302T>A (p.Phe3101Tyr)
c.8798T>A (p.Phe2933Tyr)
c.8729T>A (p.Phe2910Tyr)
c.3515T>A (p.Phe1172Tyr)
c.9365T>A (p.Phe3122Tyr)
c.9245T>A (p.Phe3082Tyr)
c.9176T>A (p.Phe3059Tyr)
c.7580T>A (p.Phe2527Tyr)
n.9716T>A
6g.51748177A>CCA364421066PKHD1c.9439T>G (p.Phe3147Val)
c.9310T>G (p.Phe3104Val)
c.9301T>G (p.Phe3101Val)
c.8797T>G (p.Phe2933Val)
c.8728T>G (p.Phe2910Val)
c.3514T>G (p.Phe1172Val)
c.9364T>G (p.Phe3122Val)
c.9244T>G (p.Phe3082Val)
c.9175T>G (p.Phe3059Val)
c.7579T>G (p.Phe2527Val)
n.9715T>G
6g.51748177A>GCA364421068PKHD1c.9439T>C (p.Phe3147Leu)
c.9310T>C (p.Phe3104Leu)
c.9301T>C (p.Phe3101Leu)
c.8797T>C (p.Phe2933Leu)
c.8728T>C (p.Phe2910Leu)
c.3514T>C (p.Phe1172Leu)
c.9364T>C (p.Phe3122Leu)
c.9244T>C (p.Phe3082Leu)
c.9175T>C (p.Phe3059Leu)
c.7579T>C (p.Phe2527Leu)
n.9715T>C
6g.51748177A>TCA364421067PKHD1c.9439T>A (p.Phe3147Ile)
c.9310T>A (p.Phe3104Ile)
c.9301T>A (p.Phe3101Ile)
c.8797T>A (p.Phe2933Ile)
c.8728T>A (p.Phe2910Ile)
c.3514T>A (p.Phe1172Ile)
c.9364T>A (p.Phe3122Ile)
c.9244T>A (p.Phe3082Ile)
c.9175T>A (p.Phe3059Ile)
c.7579T>A (p.Phe2527Ile)
n.9715T>A
6g.51748178G>ACA450613713PKHD1c.9438C>T (p.Gly3146=)
c.9309C>T (p.Gly3103=)
c.9300C>T (p.Gly3100=)
c.8796C>T (p.Gly2932=)
c.8727C>T (p.Gly2909=)
c.3513C>T (p.Gly1171=)
c.9363C>T (p.Gly3121=)
c.9243C>T (p.Gly3081=)
c.9174C>T (p.Gly3058=)
c.7578C>T (p.Gly2526=)
n.9714C>T
6g.51748178G>CCA450613715PKHD1c.9438C>G (p.Gly3146=)
c.9309C>G (p.Gly3103=)
c.9300C>G (p.Gly3100=)
c.8796C>G (p.Gly2932=)
c.8727C>G (p.Gly2909=)
c.3513C>G (p.Gly1171=)
c.9363C>G (p.Gly3121=)
c.9243C>G (p.Gly3081=)
c.9174C>G (p.Gly3058=)
c.7578C>G (p.Gly2526=)
n.9714C>G
6g.51748178G=CA1628502693PKHD1c.9438C= (p.Gly3146=)
c.9309C= (p.Gly3103=)
c.9300C= (p.Gly3100=)
c.8796C= (p.Gly2932=)
c.8727C= (p.Gly2909=)
c.3513C= (p.Gly1171=)
c.9363C= (p.Gly3121=)
c.9243C= (p.Gly3081=)
c.9174C= (p.Gly3058=)
c.7578C= (p.Gly2526=)
n.9714C=
6g.51748178G>TCA450613717PKHD1c.9438C>A (p.Gly3146=)
c.9309C>A (p.Gly3103=)
c.9300C>A (p.Gly3100=)
c.8796C>A (p.Gly2932=)
c.8727C>A (p.Gly2909=)
c.3513C>A (p.Gly1171=)
c.9363C>A (p.Gly3121=)
c.9243C>A (p.Gly3081=)
c.9174C>A (p.Gly3058=)
c.7578C>A (p.Gly2526=)
n.9714C>A
 dbSNP gnomAD v4
6g.51748179C>ACA364421069PKHD1c.9437G>T (p.Gly3146Val)
c.9308G>T (p.Gly3103Val)
c.9299G>T (p.Gly3100Val)
c.8795G>T (p.Gly2932Val)
c.8726G>T (p.Gly2909Val)
c.3512G>T (p.Gly1171Val)
c.9362G>T (p.Gly3121Val)
c.9242G>T (p.Gly3081Val)
c.9173G>T (p.Gly3058Val)
c.7577G>T (p.Gly2526Val)
n.9713G>T
6g.51748179C>GCA364421070PKHD1c.9437G>C (p.Gly3146Ala)
c.9308G>C (p.Gly3103Ala)
c.9299G>C (p.Gly3100Ala)
c.8795G>C (p.Gly2932Ala)
c.8726G>C (p.Gly2909Ala)
c.3512G>C (p.Gly1171Ala)
c.9362G>C (p.Gly3121Ala)
c.9242G>C (p.Gly3081Ala)
c.9173G>C (p.Gly3058Ala)
c.7577G>C (p.Gly2526Ala)
n.9713G>C
6g.51748179C>TCA364421071PKHD1c.9437G>A (p.Gly3146Asp)
c.9308G>A (p.Gly3103Asp)
c.9299G>A (p.Gly3100Asp)
c.8795G>A (p.Gly2932Asp)
c.8726G>A (p.Gly2909Asp)
c.3512G>A (p.Gly1171Asp)
c.9362G>A (p.Gly3121Asp)
c.9242G>A (p.Gly3081Asp)
c.9173G>A (p.Gly3058Asp)
c.7577G>A (p.Gly2526Asp)
n.9713G>A
6g.51748180C>ACA364421072PKHD1c.9436G>T (p.Gly3146Cys)
c.9307G>T (p.Gly3103Cys)
c.9298G>T (p.Gly3100Cys)
c.8794G>T (p.Gly2932Cys)
c.8725G>T (p.Gly2909Cys)
c.3511G>T (p.Gly1171Cys)
c.9361G>T (p.Gly3121Cys)
c.9241G>T (p.Gly3081Cys)
c.9172G>T (p.Gly3058Cys)
c.7576G>T (p.Gly2526Cys)
n.9712G>T
6g.51748180C=CA1628502698PKHD1c.9436G= (p.Gly3146=)
c.9307G= (p.Gly3103=)
c.9298G= (p.Gly3100=)
c.8794G= (p.Gly2932=)
c.8725G= (p.Gly2909=)
c.3511G= (p.Gly1171=)
c.9361G= (p.Gly3121=)
c.9241G= (p.Gly3081=)
c.9172G= (p.Gly3058=)
c.7576G= (p.Gly2526=)
n.9712G=
6g.51748180C>GCA364421073PKHD1c.9436G>C (p.Gly3146Arg)
c.9307G>C (p.Gly3103Arg)
c.9298G>C (p.Gly3100Arg)
c.8794G>C (p.Gly2932Arg)
c.8725G>C (p.Gly2909Arg)
c.3511G>C (p.Gly1171Arg)
c.9361G>C (p.Gly3121Arg)
c.9241G>C (p.Gly3081Arg)
c.9172G>C (p.Gly3058Arg)
c.7576G>C (p.Gly2526Arg)
n.9712G>C
6g.51748180C>TCA364421074PKHD1c.9436G>A (p.Gly3146Ser)
c.9307G>A (p.Gly3103Ser)
c.9298G>A (p.Gly3100Ser)
c.8794G>A (p.Gly2932Ser)
c.8725G>A (p.Gly2909Ser)
c.3511G>A (p.Gly1171Ser)
c.9361G>A (p.Gly3121Ser)
c.9241G>A (p.Gly3081Ser)
c.9172G>A (p.Gly3058Ser)
c.7576G>A (p.Gly2526Ser)
n.9712G>A
 dbSNP gnomAD v2 gnomAD v4
6g.51748181A>CCA450613722PKHD1c.9435T>G (p.Ser3145=)
c.9306T>G (p.Ser3102=)
c.9297T>G (p.Ser3099=)
c.8793T>G (p.Ser2931=)
c.8724T>G (p.Ser2908=)
c.3510T>G (p.Ser1170=)
c.9360T>G (p.Ser3120=)
c.9240T>G (p.Ser3080=)
c.9171T>G (p.Ser3057=)
c.7575T>G (p.Ser2525=)
n.9711T>G
 gnomAD v4
6g.51748181A>GCA450613723PKHD1c.9435T>C (p.Ser3145=)
c.9306T>C (p.Ser3102=)
c.9297T>C (p.Ser3099=)
c.8793T>C (p.Ser2931=)
c.8724T>C (p.Ser2908=)
c.3510T>C (p.Ser1170=)
c.9360T>C (p.Ser3120=)
c.9240T>C (p.Ser3080=)
c.9171T>C (p.Ser3057=)
c.7575T>C (p.Ser2525=)
n.9711T>C
6g.51748181A>TCA450613724PKHD1c.9435T>A (p.Ser3145=)
c.9306T>A (p.Ser3102=)
c.9297T>A (p.Ser3099=)
c.8793T>A (p.Ser2931=)
c.8724T>A (p.Ser2908=)
c.3510T>A (p.Ser1170=)
c.9360T>A (p.Ser3120=)
c.9240T>A (p.Ser3080=)
c.9171T>A (p.Ser3057=)
c.7575T>A (p.Ser2525=)
n.9711T>A
6g.51748182G>ACA364421075PKHD1c.9434C>T (p.Ser3145Phe)
c.9305C>T (p.Ser3102Phe)
c.9296C>T (p.Ser3099Phe)
c.8792C>T (p.Ser2931Phe)
c.8723C>T (p.Ser2908Phe)
c.3509C>T (p.Ser1170Phe)
c.9359C>T (p.Ser3120Phe)
c.9239C>T (p.Ser3080Phe)
c.9170C>T (p.Ser3057Phe)
c.7574C>T (p.Ser2525Phe)
n.9710C>T
6g.51748182G>CCA364421076PKHD1c.9434C>G (p.Ser3145Cys)
c.9305C>G (p.Ser3102Cys)
c.9296C>G (p.Ser3099Cys)
c.8792C>G (p.Ser2931Cys)
c.8723C>G (p.Ser2908Cys)
c.3509C>G (p.Ser1170Cys)
c.9359C>G (p.Ser3120Cys)
c.9239C>G (p.Ser3080Cys)
c.9170C>G (p.Ser3057Cys)
c.7574C>G (p.Ser2525Cys)
n.9710C>G
6g.51748182G>TCA364421077PKHD1c.9434C>A (p.Ser3145Tyr)
c.9305C>A (p.Ser3102Tyr)
c.9296C>A (p.Ser3099Tyr)
c.8792C>A (p.Ser2931Tyr)
c.8723C>A (p.Ser2908Tyr)
c.3509C>A (p.Ser1170Tyr)
c.9359C>A (p.Ser3120Tyr)
c.9239C>A (p.Ser3080Tyr)
c.9170C>A (p.Ser3057Tyr)
c.7574C>A (p.Ser2525Tyr)
n.9710C>A
6g.51748183A=CA1628502706PKHD1c.9433T= (p.Ser3145=)
c.9304T= (p.Ser3102=)
c.9295T= (p.Ser3099=)
c.8791T= (p.Ser2931=)
c.8722T= (p.Ser2908=)
c.3508T= (p.Ser1170=)
c.9358T= (p.Ser3120=)
c.9238T= (p.Ser3080=)
c.9169T= (p.Ser3057=)
c.7573T= (p.Ser2525=)
n.9709T=
6g.51748183A>CCA364421078PKHD1c.9433T>G (p.Ser3145Ala)
c.9304T>G (p.Ser3102Ala)
c.9295T>G (p.Ser3099Ala)
c.8791T>G (p.Ser2931Ala)
c.8722T>G (p.Ser2908Ala)
c.3508T>G (p.Ser1170Ala)
c.9358T>G (p.Ser3120Ala)
c.9238T>G (p.Ser3080Ala)
c.9169T>G (p.Ser3057Ala)
c.7573T>G (p.Ser2525Ala)
n.9709T>G
6g.51748183A>GCA138896243PKHD1c.9433T>C (p.Ser3145Pro)
c.9304T>C (p.Ser3102Pro)
c.9295T>C (p.Ser3099Pro)
c.8791T>C (p.Ser2931Pro)
c.8722T>C (p.Ser2908Pro)
c.3508T>C (p.Ser1170Pro)
c.9358T>C (p.Ser3120Pro)
c.9238T>C (p.Ser3080Pro)
c.9169T>C (p.Ser3057Pro)
c.7573T>C (p.Ser2525Pro)
n.9709T>C
 dbSNP gnomAD v4
6g.51748183A>TCA364421079PKHD1c.9433T>A (p.Ser3145Thr)
c.9304T>A (p.Ser3102Thr)
c.9295T>A (p.Ser3099Thr)
c.8791T>A (p.Ser2931Thr)
c.8722T>A (p.Ser2908Thr)
c.3508T>A (p.Ser1170Thr)
c.9358T>A (p.Ser3120Thr)
c.9238T>A (p.Ser3080Thr)
c.9169T>A (p.Ser3057Thr)
c.7573T>A (p.Ser2525Thr)
n.9709T>A
6g.51748184G>ACA450613727PKHD1c.9432C>T (p.Ile3144=)
c.9303C>T (p.Ile3101=)
c.9294C>T (p.Ile3098=)
c.8790C>T (p.Ile2930=)
c.8721C>T (p.Ile2907=)
c.3507C>T (p.Ile1169=)
c.9357C>T (p.Ile3119=)
c.9237C>T (p.Ile3079=)
c.9168C>T (p.Ile3056=)
c.7572C>T (p.Ile2524=)
n.9708C>T
6g.51748184G>CCA364421080PKHD1c.9432C>G (p.Ile3144Met)
c.9303C>G (p.Ile3101Met)
c.9294C>G (p.Ile3098Met)
c.8790C>G (p.Ile2930Met)
c.8721C>G (p.Ile2907Met)
c.3507C>G (p.Ile1169Met)
c.9357C>G (p.Ile3119Met)
c.9237C>G (p.Ile3079Met)
c.9168C>G (p.Ile3056Met)
c.7572C>G (p.Ile2524Met)
n.9708C>G
6g.51748184G=CA1628502712PKHD1c.9432C= (p.Ile3144=)
c.9303C= (p.Ile3101=)
c.9294C= (p.Ile3098=)
c.8790C= (p.Ile2930=)
c.8721C= (p.Ile2907=)
c.3507C= (p.Ile1169=)
c.9357C= (p.Ile3119=)
c.9237C= (p.Ile3079=)
c.9168C= (p.Ile3056=)
c.7572C= (p.Ile2524=)
n.9708C=
6g.51748184G>TCA3851390PKHD1c.9432C>A (p.Ile3144=)
c.9303C>A (p.Ile3101=)
c.9294C>A (p.Ile3098=)
c.8790C>A (p.Ile2930=)
c.8721C>A (p.Ile2907=)
c.3507C>A (p.Ile1169=)
c.9357C>A (p.Ile3119=)
c.9237C>A (p.Ile3079=)
c.9168C>A (p.Ile3056=)
c.7572C>A (p.Ile2524=)
n.9708C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748185A>CCA364421081PKHD1c.9431T>G (p.Ile3144Ser)
c.9302T>G (p.Ile3101Ser)
c.9293T>G (p.Ile3098Ser)
c.8789T>G (p.Ile2930Ser)
c.8720T>G (p.Ile2907Ser)
c.3506T>G (p.Ile1169Ser)
c.9356T>G (p.Ile3119Ser)
c.9236T>G (p.Ile3079Ser)
c.9167T>G (p.Ile3056Ser)
c.7571T>G (p.Ile2524Ser)
n.9707T>G
6g.51748185A>GCA364421082PKHD1c.9431T>C (p.Ile3144Thr)
c.9302T>C (p.Ile3101Thr)
c.9293T>C (p.Ile3098Thr)
c.8789T>C (p.Ile2930Thr)
c.8720T>C (p.Ile2907Thr)
c.3506T>C (p.Ile1169Thr)
c.9356T>C (p.Ile3119Thr)
c.9236T>C (p.Ile3079Thr)
c.9167T>C (p.Ile3056Thr)
c.7571T>C (p.Ile2524Thr)
n.9707T>C
6g.51748185A>TCA364421083PKHD1c.9431T>A (p.Ile3144Asn)
c.9302T>A (p.Ile3101Asn)
c.9293T>A (p.Ile3098Asn)
c.8789T>A (p.Ile2930Asn)
c.8720T>A (p.Ile2907Asn)
c.3506T>A (p.Ile1169Asn)
c.9356T>A (p.Ile3119Asn)
c.9236T>A (p.Ile3079Asn)
c.9167T>A (p.Ile3056Asn)
c.7571T>A (p.Ile2524Asn)
n.9707T>A
 gnomAD v4
6g.51748186T>ACA364421084PKHD1c.9430A>T (p.Ile3144Phe)
c.9301A>T (p.Ile3101Phe)
c.9292A>T (p.Ile3098Phe)
c.8788A>T (p.Ile2930Phe)
c.8719A>T (p.Ile2907Phe)
c.3505A>T (p.Ile1169Phe)
c.9355A>T (p.Ile3119Phe)
c.9235A>T (p.Ile3079Phe)
c.9166A>T (p.Ile3056Phe)
c.7570A>T (p.Ile2524Phe)
n.9706A>T
6g.51748186T>CCA364421085PKHD1c.9430A>G (p.Ile3144Val)
c.9301A>G (p.Ile3101Val)
c.9292A>G (p.Ile3098Val)
c.8788A>G (p.Ile2930Val)
c.8719A>G (p.Ile2907Val)
c.3505A>G (p.Ile1169Val)
c.9355A>G (p.Ile3119Val)
c.9235A>G (p.Ile3079Val)
c.9166A>G (p.Ile3056Val)
c.7570A>G (p.Ile2524Val)
n.9706A>G
6g.51748186T>GCA364421086PKHD1c.9430A>C (p.Ile3144Leu)
c.9301A>C (p.Ile3101Leu)
c.9292A>C (p.Ile3098Leu)
c.8788A>C (p.Ile2930Leu)
c.8719A>C (p.Ile2907Leu)
c.3505A>C (p.Ile1169Leu)
c.9355A>C (p.Ile3119Leu)
c.9235A>C (p.Ile3079Leu)
c.9166A>C (p.Ile3056Leu)
c.7570A>C (p.Ile2524Leu)
n.9706A>C
6g.51748187T>ACA364421087PKHD1c.9429A>T (p.Arg3143Ser)
c.9300A>T (p.Arg3100Ser)
c.9291A>T (p.Arg3097Ser)
c.8787A>T (p.Arg2929Ser)
c.8718A>T (p.Arg2906Ser)
c.3504A>T (p.Arg1168Ser)
c.9354A>T (p.Arg3118Ser)
c.9234A>T (p.Arg3078Ser)
c.9165A>T (p.Arg3055Ser)
c.7569A>T (p.Arg2523Ser)
n.9705A>T
 gnomAD v4
6g.51748187T>CCA450613733PKHD1c.9429A>G (p.Arg3143=)
c.9300A>G (p.Arg3100=)
c.9291A>G (p.Arg3097=)
c.8787A>G (p.Arg2929=)
c.8718A>G (p.Arg2906=)
c.3504A>G (p.Arg1168=)
c.9354A>G (p.Arg3118=)
c.9234A>G (p.Arg3078=)
c.9165A>G (p.Arg3055=)
c.7569A>G (p.Arg2523=)
n.9705A>G
 ClinVar
6g.51748187T>GCA364421088PKHD1c.9429A>C (p.Arg3143Ser)
c.9300A>C (p.Arg3100Ser)
c.9291A>C (p.Arg3097Ser)
c.8787A>C (p.Arg2929Ser)
c.8718A>C (p.Arg2906Ser)
c.3504A>C (p.Arg1168Ser)
c.9354A>C (p.Arg3118Ser)
c.9234A>C (p.Arg3078Ser)
c.9165A>C (p.Arg3055Ser)
c.7569A>C (p.Arg2523Ser)
n.9705A>C
6g.51748188C>ACA364421090PKHD1c.9428G>T (p.Arg3143Ile)
c.9299G>T (p.Arg3100Ile)
c.9290G>T (p.Arg3097Ile)
c.8786G>T (p.Arg2929Ile)
c.8717G>T (p.Arg2906Ile)
c.3503G>T (p.Arg1168Ile)
c.9353G>T (p.Arg3118Ile)
c.9233G>T (p.Arg3078Ile)
c.9164G>T (p.Arg3055Ile)
c.7568G>T (p.Arg2523Ile)
n.9704G>T
 gnomAD v4
6g.51748188C=CA1628502715PKHD1c.9428G= (p.Arg3143=)
c.9299G= (p.Arg3100=)
c.9290G= (p.Arg3097=)
c.8786G= (p.Arg2929=)
c.8717G= (p.Arg2906=)
c.3503G= (p.Arg1168=)
c.9353G= (p.Arg3118=)
c.9233G= (p.Arg3078=)
c.9164G= (p.Arg3055=)
c.7568G= (p.Arg2523=)
n.9704G=
6g.51748188C>GCA364421091PKHD1c.9428G>C (p.Arg3143Thr)
c.9299G>C (p.Arg3100Thr)
c.9290G>C (p.Arg3097Thr)
c.8786G>C (p.Arg2929Thr)
c.8717G>C (p.Arg2906Thr)
c.3503G>C (p.Arg1168Thr)
c.9353G>C (p.Arg3118Thr)
c.9233G>C (p.Arg3078Thr)
c.9164G>C (p.Arg3055Thr)
c.7568G>C (p.Arg2523Thr)
n.9704G>C
6g.51748188C>TCA364421092PKHD1c.9428G>A (p.Arg3143Lys)
c.9299G>A (p.Arg3100Lys)
c.9290G>A (p.Arg3097Lys)
c.8786G>A (p.Arg2929Lys)
c.8717G>A (p.Arg2906Lys)
c.3503G>A (p.Arg1168Lys)
c.9353G>A (p.Arg3118Lys)
c.9233G>A (p.Arg3078Lys)
c.9164G>A (p.Arg3055Lys)
c.7568G>A (p.Arg2523Lys)
n.9704G>A
 dbSNP gnomAD v2 gnomAD v4
6g.51748189T>ACA364421093PKHD1c.9427A>T (p.Arg3143Ter)
c.9298A>T (p.Arg3100Ter)
c.9289A>T (p.Arg3097Ter)
c.8785A>T (p.Arg2929Ter)
c.8716A>T (p.Arg2906Ter)
c.3502A>T (p.Arg1168Ter)
c.9352A>T (p.Arg3118Ter)
c.9232A>T (p.Arg3078Ter)
c.9163A>T (p.Arg3055Ter)
c.7567A>T (p.Arg2523Ter)
n.9703A>T
6g.51748189T>CCA364421094PKHD1c.9427A>G (p.Arg3143Gly)
c.9298A>G (p.Arg3100Gly)
c.9289A>G (p.Arg3097Gly)
c.8785A>G (p.Arg2929Gly)
c.8716A>G (p.Arg2906Gly)
c.3502A>G (p.Arg1168Gly)
c.9352A>G (p.Arg3118Gly)
c.9232A>G (p.Arg3078Gly)
c.9163A>G (p.Arg3055Gly)
c.7567A>G (p.Arg2523Gly)
n.9703A>G
 dbSNP gnomAD v2 gnomAD v4
6g.51748189T>GCA450613739PKHD1c.9427A>C (p.Arg3143=)
c.9298A>C (p.Arg3100=)
c.9289A>C (p.Arg3097=)
c.8785A>C (p.Arg2929=)
c.8716A>C (p.Arg2906=)
c.3502A>C (p.Arg1168=)
c.9352A>C (p.Arg3118=)
c.9232A>C (p.Arg3078=)
c.9163A>C (p.Arg3055=)
c.7567A>C (p.Arg2523=)
n.9703A>C
6g.51748189T=CA1628502717PKHD1c.9427A= (p.Arg3143=)
c.9298A= (p.Arg3100=)
c.9289A= (p.Arg3097=)
c.8785A= (p.Arg2929=)
c.8716A= (p.Arg2906=)
c.3502A= (p.Arg1168=)
c.9352A= (p.Arg3118=)
c.9232A= (p.Arg3078=)
c.9163A= (p.Arg3055=)
c.7567A= (p.Arg2523=)
n.9703A=
6g.51748190G>ACA450613740PKHD1c.9426C>T (p.Thr3142=)
c.9297C>T (p.Thr3099=)
c.9288C>T (p.Thr3096=)
c.8784C>T (p.Thr2928=)
c.8715C>T (p.Thr2905=)
c.3501C>T (p.Thr1167=)
c.9351C>T (p.Thr3117=)
c.9231C>T (p.Thr3077=)
c.9162C>T (p.Thr3054=)
c.7566C>T (p.Thr2522=)
n.9702C>T
 COSMIC COSMIC
6g.51748190G>CCA450613741PKHD1c.9426C>G (p.Thr3142=)
c.9297C>G (p.Thr3099=)
c.9288C>G (p.Thr3096=)
c.8784C>G (p.Thr2928=)
c.8715C>G (p.Thr2905=)
c.3501C>G (p.Thr1167=)
c.9351C>G (p.Thr3117=)
c.9231C>G (p.Thr3077=)
c.9162C>G (p.Thr3054=)
c.7566C>G (p.Thr2522=)
n.9702C>G
6g.51748190G=CA1628502720PKHD1c.9426C= (p.Thr3142=)
c.9297C= (p.Thr3099=)
c.9288C= (p.Thr3096=)
c.8784C= (p.Thr2928=)
c.8715C= (p.Thr2905=)
c.3501C= (p.Thr1167=)
c.9351C= (p.Thr3117=)
c.9231C= (p.Thr3077=)
c.9162C= (p.Thr3054=)
c.7566C= (p.Thr2522=)
n.9702C=
6g.51748190G>TCA450613742PKHD1c.9426C>A (p.Thr3142=)
c.9297C>A (p.Thr3099=)
c.9288C>A (p.Thr3096=)
c.8784C>A (p.Thr2928=)
c.8715C>A (p.Thr2905=)
c.3501C>A (p.Thr1167=)
c.9351C>A (p.Thr3117=)
c.9231C>A (p.Thr3077=)
c.9162C>A (p.Thr3054=)
c.7566C>A (p.Thr2522=)
n.9702C>A
 dbSNP gnomAD v3 gnomAD v4
6g.51748191G>ACA138896249PKHD1c.9425C>T (p.Thr3142Ile)
c.9296C>T (p.Thr3099Ile)
c.9287C>T (p.Thr3096Ile)
c.8783C>T (p.Thr2928Ile)
c.8714C>T (p.Thr2905Ile)
c.3500C>T (p.Thr1167Ile)
c.9350C>T (p.Thr3117Ile)
c.9230C>T (p.Thr3077Ile)
c.9161C>T (p.Thr3054Ile)
c.7565C>T (p.Thr2522Ile)
n.9701C>T
 dbSNP gnomAD v4
6g.51748191G>CCA364421096PKHD1c.9425C>G (p.Thr3142Ser)
c.9296C>G (p.Thr3099Ser)
c.9287C>G (p.Thr3096Ser)
c.8783C>G (p.Thr2928Ser)
c.8714C>G (p.Thr2905Ser)
c.3500C>G (p.Thr1167Ser)
c.9350C>G (p.Thr3117Ser)
c.9230C>G (p.Thr3077Ser)
c.9161C>G (p.Thr3054Ser)
c.7565C>G (p.Thr2522Ser)
n.9701C>G
6g.51748191G=CA1628502725PKHD1c.9425C= (p.Thr3142=)
c.9296C= (p.Thr3099=)
c.9287C= (p.Thr3096=)
c.8783C= (p.Thr2928=)
c.8714C= (p.Thr2905=)
c.3500C= (p.Thr1167=)
c.9350C= (p.Thr3117=)
c.9230C= (p.Thr3077=)
c.9161C= (p.Thr3054=)
c.7565C= (p.Thr2522=)
n.9701C=
6g.51748191G>TCA364421095PKHD1c.9425C>A (p.Thr3142Asn)
c.9296C>A (p.Thr3099Asn)
c.9287C>A (p.Thr3096Asn)
c.8783C>A (p.Thr2928Asn)
c.8714C>A (p.Thr2905Asn)
c.3500C>A (p.Thr1167Asn)
c.9350C>A (p.Thr3117Asn)
c.9230C>A (p.Thr3077Asn)
c.9161C>A (p.Thr3054Asn)
c.7565C>A (p.Thr2522Asn)
n.9701C>A
 COSMIC COSMIC
6g.51748192T>ACA364421098PKHD1c.9424A>T (p.Thr3142Ser)
c.9295A>T (p.Thr3099Ser)
c.9286A>T (p.Thr3096Ser)
c.8782A>T (p.Thr2928Ser)
c.8713A>T (p.Thr2905Ser)
c.3499A>T (p.Thr1167Ser)
c.9349A>T (p.Thr3117Ser)
c.9229A>T (p.Thr3077Ser)
c.9160A>T (p.Thr3054Ser)
c.7564A>T (p.Thr2522Ser)
n.9700A>T
 gnomAD v4
6g.51748192T>CCA364421097PKHD1c.9424A>G (p.Thr3142Ala)
c.9295A>G (p.Thr3099Ala)
c.9286A>G (p.Thr3096Ala)
c.8782A>G (p.Thr2928Ala)
c.8713A>G (p.Thr2905Ala)
c.3499A>G (p.Thr1167Ala)
c.9349A>G (p.Thr3117Ala)
c.9229A>G (p.Thr3077Ala)
c.9160A>G (p.Thr3054Ala)
c.7564A>G (p.Thr2522Ala)
n.9700A>G
 dbSNP gnomAD v2 gnomAD v4
6g.51748192T>GCA364421099PKHD1c.9424A>C (p.Thr3142Pro)
c.9295A>C (p.Thr3099Pro)
c.9286A>C (p.Thr3096Pro)
c.8782A>C (p.Thr2928Pro)
c.8713A>C (p.Thr2905Pro)
c.3499A>C (p.Thr1167Pro)
c.9349A>C (p.Thr3117Pro)
c.9229A>C (p.Thr3077Pro)
c.9160A>C (p.Thr3054Pro)
c.7564A>C (p.Thr2522Pro)
n.9700A>C
6g.51748192T=CA1628502730PKHD1c.9424A= (p.Thr3142=)
c.9295A= (p.Thr3099=)
c.9286A= (p.Thr3096=)
c.8782A= (p.Thr2928=)
c.8713A= (p.Thr2905=)
c.3499A= (p.Thr1167=)
c.9349A= (p.Thr3117=)
c.9229A= (p.Thr3077=)
c.9160A= (p.Thr3054=)
c.7564A= (p.Thr2522=)
n.9700A=
6g.51748193A>CCA364421100PKHD1c.9423T>G (p.Cys3141Trp)
c.9294T>G (p.Cys3098Trp)
c.9285T>G (p.Cys3095Trp)
c.8781T>G (p.Cys2927Trp)
c.8712T>G (p.Cys2904Trp)
c.3498T>G (p.Cys1166Trp)
c.9348T>G (p.Cys3116Trp)
c.9228T>G (p.Cys3076Trp)
c.9159T>G (p.Cys3053Trp)
c.7563T>G (p.Cys2521Trp)
n.9699T>G
6g.51748193A>GCA450613747PKHD1c.9423T>C (p.Cys3141=)
c.9294T>C (p.Cys3098=)
c.9285T>C (p.Cys3095=)
c.8781T>C (p.Cys2927=)
c.8712T>C (p.Cys2904=)
c.3498T>C (p.Cys1166=)
c.9348T>C (p.Cys3116=)
c.9228T>C (p.Cys3076=)
c.9159T>C (p.Cys3053=)
c.7563T>C (p.Cys2521=)
n.9699T>C
6g.51748193A>TCA364421101PKHD1c.9423T>A (p.Cys3141Ter)
c.9294T>A (p.Cys3098Ter)
c.9285T>A (p.Cys3095Ter)
c.8781T>A (p.Cys2927Ter)
c.8712T>A (p.Cys2904Ter)
c.3498T>A (p.Cys1166Ter)
c.9348T>A (p.Cys3116Ter)
c.9228T>A (p.Cys3076Ter)
c.9159T>A (p.Cys3053Ter)
c.7563T>A (p.Cys2521Ter)
n.9699T>A
6g.51748193_51748194insGACA2524344115PKHD1c.9423_9424insCT (p.Thr3142LeufsTer21)
c.9294_9295insCT (p.Thr3099LeufsTer21)
c.9285_9286insCT (p.Thr3096LeufsTer21)
c.8781_8782insCT (p.Thr2928LeufsTer21)
c.8712_8713insCT (p.Thr2905LeufsTer21)
c.3498_3499insCT (p.Thr1167LeufsTer21)
c.9348_9349insCT (p.Thr3117LeufsTer21)
c.9228_9229insCT (p.Thr3077LeufsTer21)
c.9159_9160insCT (p.Thr3054LeufsTer21)
c.7563_7564insCT (p.Thr2522LeufsTer21)
n.9699_9700insCT
6g.51748194C>ACA364421102PKHD1c.9422G>T (p.Cys3141Phe)
c.9293G>T (p.Cys3098Phe)
c.9284G>T (p.Cys3095Phe)
c.8780G>T (p.Cys2927Phe)
c.8711G>T (p.Cys2904Phe)
c.3497G>T (p.Cys1166Phe)
c.9347G>T (p.Cys3116Phe)
c.9227G>T (p.Cys3076Phe)
c.9158G>T (p.Cys3053Phe)
c.7562G>T (p.Cys2521Phe)
n.9698G>T
 gnomAD v4
6g.51748194C>GCA364421103PKHD1c.9422G>C (p.Cys3141Ser)
c.9293G>C (p.Cys3098Ser)
c.9284G>C (p.Cys3095Ser)
c.8780G>C (p.Cys2927Ser)
c.8711G>C (p.Cys2904Ser)
c.3497G>C (p.Cys1166Ser)
c.9347G>C (p.Cys3116Ser)
c.9227G>C (p.Cys3076Ser)
c.9158G>C (p.Cys3053Ser)
c.7562G>C (p.Cys2521Ser)
n.9698G>C
6g.51748194C>TCA364421104PKHD1c.9422G>A (p.Cys3141Tyr)
c.9293G>A (p.Cys3098Tyr)
c.9284G>A (p.Cys3095Tyr)
c.8780G>A (p.Cys2927Tyr)
c.8711G>A (p.Cys2904Tyr)
c.3497G>A (p.Cys1166Tyr)
c.9347G>A (p.Cys3116Tyr)
c.9227G>A (p.Cys3076Tyr)
c.9158G>A (p.Cys3053Tyr)
c.7562G>A (p.Cys2521Tyr)
n.9698G>A
 gnomAD v4
6g.51748195A=CA1628502735PKHD1c.9421T= (p.Cys3141=)
c.9292T= (p.Cys3098=)
c.9283T= (p.Cys3095=)
c.8779T= (p.Cys2927=)
c.8710T= (p.Cys2904=)
c.3496T= (p.Cys1166=)
c.9346T= (p.Cys3116=)
c.9226T= (p.Cys3076=)
c.9157T= (p.Cys3053=)
c.7561T= (p.Cys2521=)
n.9697T=
6g.51748195A>CCA364421107PKHD1c.9421T>G (p.Cys3141Gly)
c.9292T>G (p.Cys3098Gly)
c.9283T>G (p.Cys3095Gly)
c.8779T>G (p.Cys2927Gly)
c.8710T>G (p.Cys2904Gly)
c.3496T>G (p.Cys1166Gly)
c.9346T>G (p.Cys3116Gly)
c.9226T>G (p.Cys3076Gly)
c.9157T>G (p.Cys3053Gly)
c.7561T>G (p.Cys2521Gly)
n.9697T>G
6g.51748195A>GCA364421106PKHD1c.9421T>C (p.Cys3141Arg)
c.9292T>C (p.Cys3098Arg)
c.9283T>C (p.Cys3095Arg)
c.8779T>C (p.Cys2927Arg)
c.8710T>C (p.Cys2904Arg)
c.3496T>C (p.Cys1166Arg)
c.9346T>C (p.Cys3116Arg)
c.9226T>C (p.Cys3076Arg)
c.9157T>C (p.Cys3053Arg)
c.7561T>C (p.Cys2521Arg)
n.9697T>C
6g.51748195A>TCA364421105PKHD1c.9421T>A (p.Cys3141Ser)
c.9292T>A (p.Cys3098Ser)
c.9283T>A (p.Cys3095Ser)
c.8779T>A (p.Cys2927Ser)
c.8710T>A (p.Cys2904Ser)
c.3496T>A (p.Cys1166Ser)
c.9346T>A (p.Cys3116Ser)
c.9226T>A (p.Cys3076Ser)
c.9157T>A (p.Cys3053Ser)
c.7561T>A (p.Cys2521Ser)
n.9697T>A
 dbSNP gnomAD v3 gnomAD v4
6g.51748195_51748196insATACTCA2529619496PKHD1c.9420_9421insAGTAT (p.Cys3141SerfsTer23)
c.9291_9292insAGTAT (p.Cys3098SerfsTer23)
c.9282_9283insAGTAT (p.Cys3095SerfsTer23)
c.8778_8779insAGTAT (p.Cys2927SerfsTer23)
c.8709_8710insAGTAT (p.Cys2904SerfsTer23)
c.3495_3496insAGTAT (p.Cys1166SerfsTer23)
c.9345_9346insAGTAT (p.Cys3116SerfsTer23)
c.9225_9226insAGTAT (p.Cys3076SerfsTer23)
c.9156_9157insAGTAT (p.Cys3053SerfsTer23)
c.7560_7561insAGTAT (p.Cys2521SerfsTer23)
n.9696_9697insAGTAT
6g.51748196G>ACA3851391PKHD1c.9420C>T (p.Asn3140=)
c.9291C>T (p.Asn3097=)
c.9282C>T (p.Asn3094=)
c.8778C>T (p.Asn2926=)
c.8709C>T (p.Asn2903=)
c.3495C>T (p.Asn1165=)
c.9345C>T (p.Asn3115=)
c.9225C>T (p.Asn3075=)
c.9156C>T (p.Asn3052=)
c.7560C>T (p.Asn2520=)
n.9696C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748196G>CCA364421108PKHD1c.9420C>G (p.Asn3140Lys)
c.9291C>G (p.Asn3097Lys)
c.9282C>G (p.Asn3094Lys)
c.8778C>G (p.Asn2926Lys)
c.8709C>G (p.Asn2903Lys)
c.3495C>G (p.Asn1165Lys)
c.9345C>G (p.Asn3115Lys)
c.9225C>G (p.Asn3075Lys)
c.9156C>G (p.Asn3052Lys)
c.7560C>G (p.Asn2520Lys)
n.9696C>G
6g.51748196G=CA1628502741PKHD1c.9420C= (p.Asn3140=)
c.9291C= (p.Asn3097=)
c.9282C= (p.Asn3094=)
c.8778C= (p.Asn2926=)
c.8709C= (p.Asn2903=)
c.3495C= (p.Asn1165=)
c.9345C= (p.Asn3115=)
c.9225C= (p.Asn3075=)
c.9156C= (p.Asn3052=)
c.7560C= (p.Asn2520=)
n.9696C=
6g.51748196G>TCA364421109PKHD1c.9420C>A (p.Asn3140Lys)
c.9291C>A (p.Asn3097Lys)
c.9282C>A (p.Asn3094Lys)
c.8778C>A (p.Asn2926Lys)
c.8709C>A (p.Asn2903Lys)
c.3495C>A (p.Asn1165Lys)
c.9345C>A (p.Asn3115Lys)
c.9225C>A (p.Asn3075Lys)
c.9156C>A (p.Asn3052Lys)
c.7560C>A (p.Asn2520Lys)
n.9696C>A
6g.51748197T>ACA364421110PKHD1c.9419A>T (p.Asn3140Ile)
c.9290A>T (p.Asn3097Ile)
c.9281A>T (p.Asn3094Ile)
c.8777A>T (p.Asn2926Ile)
c.8708A>T (p.Asn2903Ile)
c.3494A>T (p.Asn1165Ile)
c.9344A>T (p.Asn3115Ile)
c.9224A>T (p.Asn3075Ile)
c.9155A>T (p.Asn3052Ile)
c.7559A>T (p.Asn2520Ile)
n.9695A>T
6g.51748197T>CCA364421111PKHD1c.9419A>G (p.Asn3140Ser)
c.9290A>G (p.Asn3097Ser)
c.9281A>G (p.Asn3094Ser)
c.8777A>G (p.Asn2926Ser)
c.8708A>G (p.Asn2903Ser)
c.3494A>G (p.Asn1165Ser)
c.9344A>G (p.Asn3115Ser)
c.9224A>G (p.Asn3075Ser)
c.9155A>G (p.Asn3052Ser)
c.7559A>G (p.Asn2520Ser)
n.9695A>G
 dbSNP gnomAD v3 gnomAD v4
6g.51748197T>GCA364421112PKHD1c.9419A>C (p.Asn3140Thr)
c.9290A>C (p.Asn3097Thr)
c.9281A>C (p.Asn3094Thr)
c.8777A>C (p.Asn2926Thr)
c.8708A>C (p.Asn2903Thr)
c.3494A>C (p.Asn1165Thr)
c.9344A>C (p.Asn3115Thr)
c.9224A>C (p.Asn3075Thr)
c.9155A>C (p.Asn3052Thr)
c.7559A>C (p.Asn2520Thr)
n.9695A>C
6g.51748197T=CA1628502742PKHD1c.9419A= (p.Asn3140=)
c.9290A= (p.Asn3097=)
c.9281A= (p.Asn3094=)
c.8777A= (p.Asn2926=)
c.8708A= (p.Asn2903=)
c.3494A= (p.Asn1165=)
c.9344A= (p.Asn3115=)
c.9224A= (p.Asn3075=)
c.9155A= (p.Asn3052=)
c.7559A= (p.Asn2520=)
n.9695A=
6g.51748198T>ACA364421113PKHD1c.9418A>T (p.Asn3140Tyr)
c.9289A>T (p.Asn3097Tyr)
c.9280A>T (p.Asn3094Tyr)
c.8776A>T (p.Asn2926Tyr)
c.8707A>T (p.Asn2903Tyr)
c.3493A>T (p.Asn1165Tyr)
c.9343A>T (p.Asn3115Tyr)
c.9223A>T (p.Asn3075Tyr)
c.9154A>T (p.Asn3052Tyr)
c.7558A>T (p.Asn2520Tyr)
n.9694A>T
6g.51748198T>CCA3851392PKHD1c.9418A>G (p.Asn3140Asp)
c.9289A>G (p.Asn3097Asp)
c.9280A>G (p.Asn3094Asp)
c.8776A>G (p.Asn2926Asp)
c.8707A>G (p.Asn2903Asp)
c.3493A>G (p.Asn1165Asp)
c.9343A>G (p.Asn3115Asp)
c.9223A>G (p.Asn3075Asp)
c.9154A>G (p.Asn3052Asp)
c.7558A>G (p.Asn2520Asp)
n.9694A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748198T>GCA364421114PKHD1c.9418A>C (p.Asn3140His)
c.9289A>C (p.Asn3097His)
c.9280A>C (p.Asn3094His)
c.8776A>C (p.Asn2926His)
c.8707A>C (p.Asn2903His)
c.3493A>C (p.Asn1165His)
c.9343A>C (p.Asn3115His)
c.9223A>C (p.Asn3075His)
c.9154A>C (p.Asn3052His)
c.7558A>C (p.Asn2520His)
n.9694A>C
6g.51748198T=CA1628502746PKHD1c.9418A= (p.Asn3140=)
c.9289A= (p.Asn3097=)
c.9280A= (p.Asn3094=)
c.8776A= (p.Asn2926=)
c.8707A= (p.Asn2903=)
c.3493A= (p.Asn1165=)
c.9343A= (p.Asn3115=)
c.9223A= (p.Asn3075=)
c.9154A= (p.Asn3052=)
c.7558A= (p.Asn2520=)
n.9694A=
6g.51748199G>ACA450613755PKHD1c.9417C>T (p.Asp3139=)
c.9288C>T (p.Asp3096=)
c.9279C>T (p.Asp3093=)
c.8775C>T (p.Asp2925=)
c.8706C>T (p.Asp2902=)
c.3492C>T (p.Asp1164=)
c.9342C>T (p.Asp3114=)
c.9222C>T (p.Asp3074=)
c.9153C>T (p.Asp3051=)
c.7557C>T (p.Asp2519=)
n.9693C>T
 gnomAD v4
6g.51748199G>CCA364421115PKHD1c.9417C>G (p.Asp3139Glu)
c.9288C>G (p.Asp3096Glu)
c.9279C>G (p.Asp3093Glu)
c.8775C>G (p.Asp2925Glu)
c.8706C>G (p.Asp2902Glu)
c.3492C>G (p.Asp1164Glu)
c.9342C>G (p.Asp3114Glu)
c.9222C>G (p.Asp3074Glu)
c.9153C>G (p.Asp3051Glu)
c.7557C>G (p.Asp2519Glu)
n.9693C>G
6g.51748199G>TCA364421116PKHD1c.9417C>A (p.Asp3139Glu)
c.9288C>A (p.Asp3096Glu)
c.9279C>A (p.Asp3093Glu)
c.8775C>A (p.Asp2925Glu)
c.8706C>A (p.Asp2902Glu)
c.3492C>A (p.Asp1164Glu)
c.9342C>A (p.Asp3114Glu)
c.9222C>A (p.Asp3074Glu)
c.9153C>A (p.Asp3051Glu)
c.7557C>A (p.Asp2519Glu)
n.9693C>A
6g.51748200T>ACA364421117PKHD1c.9416A>T (p.Asp3139Val)
c.9287A>T (p.Asp3096Val)
c.9278A>T (p.Asp3093Val)
c.8774A>T (p.Asp2925Val)
c.8705A>T (p.Asp2902Val)
c.3491A>T (p.Asp1164Val)
c.9341A>T (p.Asp3114Val)
c.9221A>T (p.Asp3074Val)
c.9152A>T (p.Asp3051Val)
c.7556A>T (p.Asp2519Val)
n.9692A>T
6g.51748200T>CCA364421118PKHD1c.9416A>G (p.Asp3139Gly)
c.9287A>G (p.Asp3096Gly)
c.9278A>G (p.Asp3093Gly)
c.8774A>G (p.Asp2925Gly)
c.8705A>G (p.Asp2902Gly)
c.3491A>G (p.Asp1164Gly)
c.9341A>G (p.Asp3114Gly)
c.9221A>G (p.Asp3074Gly)
c.9152A>G (p.Asp3051Gly)
c.7556A>G (p.Asp2519Gly)
n.9692A>G
6g.51748200T>GCA138896253PKHD1c.9416A>C (p.Asp3139Ala)
c.9287A>C (p.Asp3096Ala)
c.9278A>C (p.Asp3093Ala)
c.8774A>C (p.Asp2925Ala)
c.8705A>C (p.Asp2902Ala)
c.3491A>C (p.Asp1164Ala)
c.9341A>C (p.Asp3114Ala)
c.9221A>C (p.Asp3074Ala)
c.9152A>C (p.Asp3051Ala)
c.7556A>C (p.Asp2519Ala)
n.9692A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748200T=CA1628502749PKHD1c.9416A= (p.Asp3139=)
c.9287A= (p.Asp3096=)
c.9278A= (p.Asp3093=)
c.8774A= (p.Asp2925=)
c.8705A= (p.Asp2902=)
c.3491A= (p.Asp1164=)
c.9341A= (p.Asp3114=)
c.9221A= (p.Asp3074=)
c.9152A= (p.Asp3051=)
c.7556A= (p.Asp2519=)
n.9692A=
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

Number of alleles fetched