Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51748086dupCA2679078631PKHD1c.9531dup (p.Gly3178TrpfsTer24)
c.9402dup (p.Gly3135TrpfsTer24)
c.9393dup (p.Gly3132TrpfsTer24)
c.8889dup (p.Gly2964TrpfsTer24)
c.8820dup (p.Gly2941TrpfsTer24)
c.3606dup (p.Gly1203TrpfsTer24)
c.9456dup (p.Gly3153TrpfsTer24)
c.9336dup (p.Gly3113TrpfsTer24)
c.9267dup (p.Gly3090TrpfsTer24)
c.7671dup (p.Gly2558TrpfsTer24)
n.9807dup
 gnomAD v4
6g.51748085_51748086dupCA658821795PKHD1c.9530_9531dup (p.Gly3178LeufsTer6)
c.9401_9402dup (p.Gly3135LeufsTer6)
c.9392_9393dup (p.Gly3132LeufsTer6)
c.8888_8889dup (p.Gly2964LeufsTer6)
c.8819_8820dup (p.Gly2941LeufsTer6)
c.3605_3606dup (p.Gly1203LeufsTer6)
c.9455_9456dup (p.Gly3153LeufsTer6)
c.9335_9336dup (p.Gly3113LeufsTer6)
c.9266_9267dup (p.Gly3090LeufsTer6)
c.7670_7671dup (p.Gly2558LeufsTer6)
n.9806_9807dup
 ClinVar dbSNP
6g.51748086A=CA1628502490PKHD1c.9530T= (p.Ile3177=)
c.9401T= (p.Ile3134=)
c.9392T= (p.Ile3131=)
c.8888T= (p.Ile2963=)
c.8819T= (p.Ile2940=)
c.3605T= (p.Ile1202=)
c.9455T= (p.Ile3152=)
c.9335T= (p.Ile3112=)
c.9266T= (p.Ile3089=)
c.7670T= (p.Ile2557=)
n.9806T=
6g.51748086A>CCA364420859PKHD1c.9530T>G (p.Ile3177Ser)
c.9401T>G (p.Ile3134Ser)
c.9392T>G (p.Ile3131Ser)
c.8888T>G (p.Ile2963Ser)
c.8819T>G (p.Ile2940Ser)
c.3605T>G (p.Ile1202Ser)
c.9455T>G (p.Ile3152Ser)
c.9335T>G (p.Ile3112Ser)
c.9266T>G (p.Ile3089Ser)
c.7670T>G (p.Ile2557Ser)
n.9806T>G
6g.51748086A>GCA3851379PKHD1c.9530T>C (p.Ile3177Thr)
c.9401T>C (p.Ile3134Thr)
c.9392T>C (p.Ile3131Thr)
c.8888T>C (p.Ile2963Thr)
c.8819T>C (p.Ile2940Thr)
c.3605T>C (p.Ile1202Thr)
c.9455T>C (p.Ile3152Thr)
c.9335T>C (p.Ile3112Thr)
c.9266T>C (p.Ile3089Thr)
c.7670T>C (p.Ile2557Thr)
n.9806T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748086A>TCA364420860PKHD1c.9530T>A (p.Ile3177Asn)
c.9401T>A (p.Ile3134Asn)
c.9392T>A (p.Ile3131Asn)
c.8888T>A (p.Ile2963Asn)
c.8819T>A (p.Ile2940Asn)
c.3605T>A (p.Ile1202Asn)
c.9455T>A (p.Ile3152Asn)
c.9335T>A (p.Ile3112Asn)
c.9266T>A (p.Ile3089Asn)
c.7670T>A (p.Ile2557Asn)
n.9806T>A
6g.51748087T>ACA364420862PKHD1c.9529A>T (p.Ile3177Phe)
c.9400A>T (p.Ile3134Phe)
c.9391A>T (p.Ile3131Phe)
c.8887A>T (p.Ile2963Phe)
c.8818A>T (p.Ile2940Phe)
c.3604A>T (p.Ile1202Phe)
c.9454A>T (p.Ile3152Phe)
c.9334A>T (p.Ile3112Phe)
c.9265A>T (p.Ile3089Phe)
c.7669A>T (p.Ile2557Phe)
n.9805A>T
 COSMIC
6g.51748087T>CCA3851380PKHD1c.9529A>G (p.Ile3177Val)
c.9400A>G (p.Ile3134Val)
c.9391A>G (p.Ile3131Val)
c.8887A>G (p.Ile2963Val)
c.8818A>G (p.Ile2940Val)
c.3604A>G (p.Ile1202Val)
c.9454A>G (p.Ile3152Val)
c.9334A>G (p.Ile3112Val)
c.9265A>G (p.Ile3089Val)
c.7669A>G (p.Ile2557Val)
n.9805A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.51748087T>GCA364420861PKHD1c.9529A>C (p.Ile3177Leu)
c.9400A>C (p.Ile3134Leu)
c.9391A>C (p.Ile3131Leu)
c.8887A>C (p.Ile2963Leu)
c.8818A>C (p.Ile2940Leu)
c.3604A>C (p.Ile1202Leu)
c.9454A>C (p.Ile3152Leu)
c.9334A>C (p.Ile3112Leu)
c.9265A>C (p.Ile3089Leu)
c.7669A>C (p.Ile2557Leu)
n.9805A>C
6g.51748087T=CA1628502498PKHD1c.9529A= (p.Ile3177=)
c.9400A= (p.Ile3134=)
c.9391A= (p.Ile3131=)
c.8887A= (p.Ile2963=)
c.8818A= (p.Ile2940=)
c.3604A= (p.Ile1202=)
c.9454A= (p.Ile3152=)
c.9334A= (p.Ile3112=)
c.9265A= (p.Ile3089=)
c.7669A= (p.Ile2557=)
n.9805A=
6g.51748088A>CCA450613436PKHD1c.9528T>G (p.Thr3176=)
c.9399T>G (p.Thr3133=)
c.9390T>G (p.Thr3130=)
c.8886T>G (p.Thr2962=)
c.8817T>G (p.Thr2939=)
c.3603T>G (p.Thr1201=)
c.9453T>G (p.Thr3151=)
c.9333T>G (p.Thr3111=)
c.9264T>G (p.Thr3088=)
c.7668T>G (p.Thr2556=)
n.9804T>G
6g.51748088A>GCA450613437PKHD1c.9528T>C (p.Thr3176=)
c.9399T>C (p.Thr3133=)
c.9390T>C (p.Thr3130=)
c.8886T>C (p.Thr2962=)
c.8817T>C (p.Thr2939=)
c.3603T>C (p.Thr1201=)
c.9453T>C (p.Thr3151=)
c.9333T>C (p.Thr3111=)
c.9264T>C (p.Thr3088=)
c.7668T>C (p.Thr2556=)
n.9804T>C
 gnomAD v4
6g.51748088A>TCA450613438PKHD1c.9528T>A (p.Thr3176=)
c.9399T>A (p.Thr3133=)
c.9390T>A (p.Thr3130=)
c.8886T>A (p.Thr2962=)
c.8817T>A (p.Thr2939=)
c.3603T>A (p.Thr1201=)
c.9453T>A (p.Thr3151=)
c.9333T>A (p.Thr3111=)
c.9264T>A (p.Thr3088=)
c.7668T>A (p.Thr2556=)
n.9804T>A
6g.51748089G>ACA364420863PKHD1c.9527C>T (p.Thr3176Ile)
c.9398C>T (p.Thr3133Ile)
c.9389C>T (p.Thr3130Ile)
c.8885C>T (p.Thr2962Ile)
c.8816C>T (p.Thr2939Ile)
c.3602C>T (p.Thr1201Ile)
c.9452C>T (p.Thr3151Ile)
c.9332C>T (p.Thr3111Ile)
c.9263C>T (p.Thr3088Ile)
c.7667C>T (p.Thr2556Ile)
n.9803C>T
6g.51748089G>CCA364420865PKHD1c.9527C>G (p.Thr3176Ser)
c.9398C>G (p.Thr3133Ser)
c.9389C>G (p.Thr3130Ser)
c.8885C>G (p.Thr2962Ser)
c.8816C>G (p.Thr2939Ser)
c.3602C>G (p.Thr1201Ser)
c.9452C>G (p.Thr3151Ser)
c.9332C>G (p.Thr3111Ser)
c.9263C>G (p.Thr3088Ser)
c.7667C>G (p.Thr2556Ser)
n.9803C>G
6g.51748089G>TCA364420864PKHD1c.9527C>A (p.Thr3176Asn)
c.9398C>A (p.Thr3133Asn)
c.9389C>A (p.Thr3130Asn)
c.8885C>A (p.Thr2962Asn)
c.8816C>A (p.Thr2939Asn)
c.3602C>A (p.Thr1201Asn)
c.9452C>A (p.Thr3151Asn)
c.9332C>A (p.Thr3111Asn)
c.9263C>A (p.Thr3088Asn)
c.7667C>A (p.Thr2556Asn)
n.9803C>A
6g.51748090T>ACA364420866PKHD1c.9526A>T (p.Thr3176Ser)
c.9397A>T (p.Thr3133Ser)
c.9388A>T (p.Thr3130Ser)
c.8884A>T (p.Thr2962Ser)
c.8815A>T (p.Thr2939Ser)
c.3601A>T (p.Thr1201Ser)
c.9451A>T (p.Thr3151Ser)
c.9331A>T (p.Thr3111Ser)
c.9262A>T (p.Thr3088Ser)
c.7666A>T (p.Thr2556Ser)
n.9802A>T
6g.51748090T>CCA138896145PKHD1c.9526A>G (p.Thr3176Ala)
c.9397A>G (p.Thr3133Ala)
c.9388A>G (p.Thr3130Ala)
c.8884A>G (p.Thr2962Ala)
c.8815A>G (p.Thr2939Ala)
c.3601A>G (p.Thr1201Ala)
c.9451A>G (p.Thr3151Ala)
c.9331A>G (p.Thr3111Ala)
c.9262A>G (p.Thr3088Ala)
c.7666A>G (p.Thr2556Ala)
n.9802A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748090T>GCA364420867PKHD1c.9526A>C (p.Thr3176Pro)
c.9397A>C (p.Thr3133Pro)
c.9388A>C (p.Thr3130Pro)
c.8884A>C (p.Thr2962Pro)
c.8815A>C (p.Thr2939Pro)
c.3601A>C (p.Thr1201Pro)
c.9451A>C (p.Thr3151Pro)
c.9331A>C (p.Thr3111Pro)
c.9262A>C (p.Thr3088Pro)
c.7666A>C (p.Thr2556Pro)
n.9802A>C
6g.51748090T=CA1628502503PKHD1c.9526A= (p.Thr3176=)
c.9397A= (p.Thr3133=)
c.9388A= (p.Thr3130=)
c.8884A= (p.Thr2962=)
c.8815A= (p.Thr2939=)
c.3601A= (p.Thr1201=)
c.9451A= (p.Thr3151=)
c.9331A= (p.Thr3111=)
c.9262A= (p.Thr3088=)
c.7666A= (p.Thr2556=)
n.9802A=
6g.51748091A>CCA364420868PKHD1c.9525T>G (p.Asn3175Lys)
c.9396T>G (p.Asn3132Lys)
c.9387T>G (p.Asn3129Lys)
c.8883T>G (p.Asn2961Lys)
c.8814T>G (p.Asn2938Lys)
c.3600T>G (p.Asn1200Lys)
c.9450T>G (p.Asn3150Lys)
c.9330T>G (p.Asn3110Lys)
c.9261T>G (p.Asn3087Lys)
c.7665T>G (p.Asn2555Lys)
n.9801T>G
6g.51748091A>GCA450613440PKHD1c.9525T>C (p.Asn3175=)
c.9396T>C (p.Asn3132=)
c.9387T>C (p.Asn3129=)
c.8883T>C (p.Asn2961=)
c.8814T>C (p.Asn2938=)
c.3600T>C (p.Asn1200=)
c.9450T>C (p.Asn3150=)
c.9330T>C (p.Asn3110=)
c.9261T>C (p.Asn3087=)
c.7665T>C (p.Asn2555=)
n.9801T>C
 gnomAD v4
6g.51748091A>TCA364420869PKHD1c.9525T>A (p.Asn3175Lys)
c.9396T>A (p.Asn3132Lys)
c.9387T>A (p.Asn3129Lys)
c.8883T>A (p.Asn2961Lys)
c.8814T>A (p.Asn2938Lys)
c.3600T>A (p.Asn1200Lys)
c.9450T>A (p.Asn3150Lys)
c.9330T>A (p.Asn3110Lys)
c.9261T>A (p.Asn3087Lys)
c.7665T>A (p.Asn2555Lys)
n.9801T>A
 dbSNP
6g.51748092T>ACA364420870PKHD1c.9524A>T (p.Asn3175Ile)
c.9395A>T (p.Asn3132Ile)
c.9386A>T (p.Asn3129Ile)
c.8882A>T (p.Asn2961Ile)
c.8813A>T (p.Asn2938Ile)
c.3599A>T (p.Asn1200Ile)
c.9449A>T (p.Asn3150Ile)
c.9329A>T (p.Asn3110Ile)
c.9260A>T (p.Asn3087Ile)
c.7664A>T (p.Asn2555Ile)
n.9800A>T
6g.51748092T>CCA364420872PKHD1c.9524A>G (p.Asn3175Ser)
c.9395A>G (p.Asn3132Ser)
c.9386A>G (p.Asn3129Ser)
c.8882A>G (p.Asn2961Ser)
c.8813A>G (p.Asn2938Ser)
c.3599A>G (p.Asn1200Ser)
c.9449A>G (p.Asn3150Ser)
c.9329A>G (p.Asn3110Ser)
c.9260A>G (p.Asn3087Ser)
c.7664A>G (p.Asn2555Ser)
n.9800A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748092T>GCA364420871PKHD1c.9524A>C (p.Asn3175Thr)
c.9395A>C (p.Asn3132Thr)
c.9386A>C (p.Asn3129Thr)
c.8882A>C (p.Asn2961Thr)
c.8813A>C (p.Asn2938Thr)
c.3599A>C (p.Asn1200Thr)
c.9449A>C (p.Asn3150Thr)
c.9329A>C (p.Asn3110Thr)
c.9260A>C (p.Asn3087Thr)
c.7664A>C (p.Asn2555Thr)
n.9800A>C
6g.51748092T=CA1628502513PKHD1c.9524A= (p.Asn3175=)
c.9395A= (p.Asn3132=)
c.9386A= (p.Asn3129=)
c.8882A= (p.Asn2961=)
c.8813A= (p.Asn2938=)
c.3599A= (p.Asn1200=)
c.9449A= (p.Asn3150=)
c.9329A= (p.Asn3110=)
c.9260A= (p.Asn3087=)
c.7664A= (p.Asn2555=)
n.9800A=
6g.51748092_51748093delinsCCA2695206427PKHD1c.9523_9524delinsG (p.Asn3175ValfsTer8)
c.9394_9395delinsG (p.Asn3132ValfsTer8)
c.9385_9386delinsG (p.Asn3129ValfsTer8)
c.8881_8882delinsG (p.Asn2961ValfsTer8)
c.8812_8813delinsG (p.Asn2938ValfsTer8)
c.3598_3599delinsG (p.Asn1200ValfsTer8)
c.9448_9449delinsG (p.Asn3150ValfsTer8)
c.9328_9329delinsG (p.Asn3110ValfsTer8)
c.9259_9260delinsG (p.Asn3087ValfsTer8)
c.7663_7664delinsG (p.Asn2555ValfsTer8)
n.9799_9800delinsG
6g.51748093T>ACA364420873PKHD1c.9523A>T (p.Asn3175Tyr)
c.9394A>T (p.Asn3132Tyr)
c.9385A>T (p.Asn3129Tyr)
c.8881A>T (p.Asn2961Tyr)
c.8812A>T (p.Asn2938Tyr)
c.3598A>T (p.Asn1200Tyr)
c.9448A>T (p.Asn3150Tyr)
c.9328A>T (p.Asn3110Tyr)
c.9259A>T (p.Asn3087Tyr)
c.7663A>T (p.Asn2555Tyr)
n.9799A>T
6g.51748093T>CCA364420874PKHD1c.9523A>G (p.Asn3175Asp)
c.9394A>G (p.Asn3132Asp)
c.9385A>G (p.Asn3129Asp)
c.8881A>G (p.Asn2961Asp)
c.8812A>G (p.Asn2938Asp)
c.3598A>G (p.Asn1200Asp)
c.9448A>G (p.Asn3150Asp)
c.9328A>G (p.Asn3110Asp)
c.9259A>G (p.Asn3087Asp)
c.7663A>G (p.Asn2555Asp)
n.9799A>G
6g.51748093T>GCA364420875PKHD1c.9523A>C (p.Asn3175His)
c.9394A>C (p.Asn3132His)
c.9385A>C (p.Asn3129His)
c.8881A>C (p.Asn2961His)
c.8812A>C (p.Asn2938His)
c.3598A>C (p.Asn1200His)
c.9448A>C (p.Asn3150His)
c.9328A>C (p.Asn3110His)
c.9259A>C (p.Asn3087His)
c.7663A>C (p.Asn2555His)
n.9799A>C
6g.51748094G>ACA450613441PKHD1c.9522C>T (p.Asp3174=)
c.9393C>T (p.Asp3131=)
c.9384C>T (p.Asp3128=)
c.8880C>T (p.Asp2960=)
c.8811C>T (p.Asp2937=)
c.3597C>T (p.Asp1199=)
c.9447C>T (p.Asp3149=)
c.9327C>T (p.Asp3109=)
c.9258C>T (p.Asp3086=)
c.7662C>T (p.Asp2554=)
n.9798C>T
 ClinVar dbSNP
6g.51748094G>CCA364420876PKHD1c.9522C>G (p.Asp3174Glu)
c.9393C>G (p.Asp3131Glu)
c.9384C>G (p.Asp3128Glu)
c.8880C>G (p.Asp2960Glu)
c.8811C>G (p.Asp2937Glu)
c.3597C>G (p.Asp1199Glu)
c.9447C>G (p.Asp3149Glu)
c.9327C>G (p.Asp3109Glu)
c.9258C>G (p.Asp3086Glu)
c.7662C>G (p.Asp2554Glu)
n.9798C>G
 gnomAD v4
6g.51748094G=CA1628502518PKHD1c.9522C= (p.Asp3174=)
c.9393C= (p.Asp3131=)
c.9384C= (p.Asp3128=)
c.8880C= (p.Asp2960=)
c.8811C= (p.Asp2937=)
c.3597C= (p.Asp1199=)
c.9447C= (p.Asp3149=)
c.9327C= (p.Asp3109=)
c.9258C= (p.Asp3086=)
c.7662C= (p.Asp2554=)
n.9798C=
6g.51748094G>TCA364420877PKHD1c.9522C>A (p.Asp3174Glu)
c.9393C>A (p.Asp3131Glu)
c.9384C>A (p.Asp3128Glu)
c.8880C>A (p.Asp2960Glu)
c.8811C>A (p.Asp2937Glu)
c.3597C>A (p.Asp1199Glu)
c.9447C>A (p.Asp3149Glu)
c.9327C>A (p.Asp3109Glu)
c.9258C>A (p.Asp3086Glu)
c.7662C>A (p.Asp2554Glu)
n.9798C>A
6g.51748095T>ACA364420878PKHD1c.9521A>T (p.Asp3174Val)
c.9392A>T (p.Asp3131Val)
c.9383A>T (p.Asp3128Val)
c.8879A>T (p.Asp2960Val)
c.8810A>T (p.Asp2937Val)
c.3596A>T (p.Asp1199Val)
c.9446A>T (p.Asp3149Val)
c.9326A>T (p.Asp3109Val)
c.9257A>T (p.Asp3086Val)
c.7661A>T (p.Asp2554Val)
n.9797A>T
 dbSNP
6g.51748095T>CCA364420879PKHD1c.9521A>G (p.Asp3174Gly)
c.9392A>G (p.Asp3131Gly)
c.9383A>G (p.Asp3128Gly)
c.8879A>G (p.Asp2960Gly)
c.8810A>G (p.Asp2937Gly)
c.3596A>G (p.Asp1199Gly)
c.9446A>G (p.Asp3149Gly)
c.9326A>G (p.Asp3109Gly)
c.9257A>G (p.Asp3086Gly)
c.7661A>G (p.Asp2554Gly)
n.9797A>G
6g.51748095T>GCA364420880PKHD1c.9521A>C (p.Asp3174Ala)
c.9392A>C (p.Asp3131Ala)
c.9383A>C (p.Asp3128Ala)
c.8879A>C (p.Asp2960Ala)
c.8810A>C (p.Asp2937Ala)
c.3596A>C (p.Asp1199Ala)
c.9446A>C (p.Asp3149Ala)
c.9326A>C (p.Asp3109Ala)
c.9257A>C (p.Asp3086Ala)
c.7661A>C (p.Asp2554Ala)
n.9797A>C
6g.51748095T=CA1628502522PKHD1c.9521A= (p.Asp3174=)
c.9392A= (p.Asp3131=)
c.9383A= (p.Asp3128=)
c.8879A= (p.Asp2960=)
c.8810A= (p.Asp2937=)
c.3596A= (p.Asp1199=)
c.9446A= (p.Asp3149=)
c.9326A= (p.Asp3109=)
c.9257A= (p.Asp3086=)
c.7661A= (p.Asp2554=)
n.9797A=
6g.51748096C>ACA364420881PKHD1c.9520G>T (p.Asp3174Tyr)
c.9391G>T (p.Asp3131Tyr)
c.9382G>T (p.Asp3128Tyr)
c.8878G>T (p.Asp2960Tyr)
c.8809G>T (p.Asp2937Tyr)
c.3595G>T (p.Asp1199Tyr)
c.9445G>T (p.Asp3149Tyr)
c.9325G>T (p.Asp3109Tyr)
c.9256G>T (p.Asp3086Tyr)
c.7660G>T (p.Asp2554Tyr)
n.9796G>T
6g.51748096C>GCA364420882PKHD1c.9520G>C (p.Asp3174His)
c.9391G>C (p.Asp3131His)
c.9382G>C (p.Asp3128His)
c.8878G>C (p.Asp2960His)
c.8809G>C (p.Asp2937His)
c.3595G>C (p.Asp1199His)
c.9445G>C (p.Asp3149His)
c.9325G>C (p.Asp3109His)
c.9256G>C (p.Asp3086His)
c.7660G>C (p.Asp2554His)
n.9796G>C
6g.51748096C>TCA364420883PKHD1c.9520G>A (p.Asp3174Asn)
c.9391G>A (p.Asp3131Asn)
c.9382G>A (p.Asp3128Asn)
c.8878G>A (p.Asp2960Asn)
c.8809G>A (p.Asp2937Asn)
c.3595G>A (p.Asp1199Asn)
c.9445G>A (p.Asp3149Asn)
c.9325G>A (p.Asp3109Asn)
c.9256G>A (p.Asp3086Asn)
c.7660G>A (p.Asp2554Asn)
n.9796G>A
6g.51748097T>ACA450613444PKHD1c.9519A>T (p.Val3173=)
c.9390A>T (p.Val3130=)
c.9381A>T (p.Val3127=)
c.8877A>T (p.Val2959=)
c.8808A>T (p.Val2936=)
c.3594A>T (p.Val1198=)
c.9444A>T (p.Val3148=)
c.9324A>T (p.Val3108=)
c.9255A>T (p.Val3085=)
c.7659A>T (p.Val2553=)
n.9795A>T
6g.51748097T>CCA450613445PKHD1c.9519A>G (p.Val3173=)
c.9390A>G (p.Val3130=)
c.9381A>G (p.Val3127=)
c.8877A>G (p.Val2959=)
c.8808A>G (p.Val2936=)
c.3594A>G (p.Val1198=)
c.9444A>G (p.Val3148=)
c.9324A>G (p.Val3108=)
c.9255A>G (p.Val3085=)
c.7659A>G (p.Val2553=)
n.9795A>G
6g.51748097T>GCA450613446PKHD1c.9519A>C (p.Val3173=)
c.9390A>C (p.Val3130=)
c.9381A>C (p.Val3127=)
c.8877A>C (p.Val2959=)
c.8808A>C (p.Val2936=)
c.3594A>C (p.Val1198=)
c.9444A>C (p.Val3148=)
c.9324A>C (p.Val3108=)
c.9255A>C (p.Val3085=)
c.7659A>C (p.Val2553=)
n.9795A>C
6g.51748098A>CCA364420884PKHD1c.9518T>G (p.Val3173Gly)
c.9389T>G (p.Val3130Gly)
c.9380T>G (p.Val3127Gly)
c.8876T>G (p.Val2959Gly)
c.8807T>G (p.Val2936Gly)
c.3593T>G (p.Val1198Gly)
c.9443T>G (p.Val3148Gly)
c.9323T>G (p.Val3108Gly)
c.9254T>G (p.Val3085Gly)
c.7658T>G (p.Val2553Gly)
n.9794T>G
6g.51748098A>GCA364420886PKHD1c.9518T>C (p.Val3173Ala)
c.9389T>C (p.Val3130Ala)
c.9380T>C (p.Val3127Ala)
c.8876T>C (p.Val2959Ala)
c.8807T>C (p.Val2936Ala)
c.3593T>C (p.Val1198Ala)
c.9443T>C (p.Val3148Ala)
c.9323T>C (p.Val3108Ala)
c.9254T>C (p.Val3085Ala)
c.7658T>C (p.Val2553Ala)
n.9794T>C
6g.51748098A>TCA364420885PKHD1c.9518T>A (p.Val3173Glu)
c.9389T>A (p.Val3130Glu)
c.9380T>A (p.Val3127Glu)
c.8876T>A (p.Val2959Glu)
c.8807T>A (p.Val2936Glu)
c.3593T>A (p.Val1198Glu)
c.9443T>A (p.Val3148Glu)
c.9323T>A (p.Val3108Glu)
c.9254T>A (p.Val3085Glu)
c.7658T>A (p.Val2553Glu)
n.9794T>A
6g.51748099C>ACA364420887PKHD1c.9517G>T (p.Val3173Leu)
c.9388G>T (p.Val3130Leu)
c.9379G>T (p.Val3127Leu)
c.8875G>T (p.Val2959Leu)
c.8806G>T (p.Val2936Leu)
c.3592G>T (p.Val1198Leu)
c.9442G>T (p.Val3148Leu)
c.9322G>T (p.Val3108Leu)
c.9253G>T (p.Val3085Leu)
c.7657G>T (p.Val2553Leu)
n.9793G>T
 dbSNP gnomAD v2 gnomAD v4
6g.51748099C=CA1628502528PKHD1c.9517G= (p.Val3173=)
c.9388G= (p.Val3130=)
c.9379G= (p.Val3127=)
c.8875G= (p.Val2959=)
c.8806G= (p.Val2936=)
c.3592G= (p.Val1198=)
c.9442G= (p.Val3148=)
c.9322G= (p.Val3108=)
c.9253G= (p.Val3085=)
c.7657G= (p.Val2553=)
n.9793G=
6g.51748099C>GCA364420888PKHD1c.9517G>C (p.Val3173Leu)
c.9388G>C (p.Val3130Leu)
c.9379G>C (p.Val3127Leu)
c.8875G>C (p.Val2959Leu)
c.8806G>C (p.Val2936Leu)
c.3592G>C (p.Val1198Leu)
c.9442G>C (p.Val3148Leu)
c.9322G>C (p.Val3108Leu)
c.9253G>C (p.Val3085Leu)
c.7657G>C (p.Val2553Leu)
n.9793G>C
6g.51748099C>TCA364420889PKHD1c.9517G>A (p.Val3173Ile)
c.9388G>A (p.Val3130Ile)
c.9379G>A (p.Val3127Ile)
c.8875G>A (p.Val2959Ile)
c.8806G>A (p.Val2936Ile)
c.3592G>A (p.Val1198Ile)
c.9442G>A (p.Val3148Ile)
c.9322G>A (p.Val3108Ile)
c.9253G>A (p.Val3085Ile)
c.7657G>A (p.Val2553Ile)
n.9793G>A
 dbSNP gnomAD v2 gnomAD v4
6g.51748100C>ACA450613448PKHD1c.9516G>T (p.Leu3172=)
c.9387G>T (p.Leu3129=)
c.9378G>T (p.Leu3126=)
c.8874G>T (p.Leu2958=)
c.8805G>T (p.Leu2935=)
c.3591G>T (p.Leu1197=)
c.9441G>T (p.Leu3147=)
c.9321G>T (p.Leu3107=)
c.9252G>T (p.Leu3084=)
c.7656G>T (p.Leu2552=)
n.9792G>T
6g.51748100C=CA1628502533PKHD1c.9516G= (p.Leu3172=)
c.9387G= (p.Leu3129=)
c.9378G= (p.Leu3126=)
c.8874G= (p.Leu2958=)
c.8805G= (p.Leu2935=)
c.3591G= (p.Leu1197=)
c.9441G= (p.Leu3147=)
c.9321G= (p.Leu3107=)
c.9252G= (p.Leu3084=)
c.7656G= (p.Leu2552=)
n.9792G=
6g.51748100C>GCA450613449PKHD1c.9516G>C (p.Leu3172=)
c.9387G>C (p.Leu3129=)
c.9378G>C (p.Leu3126=)
c.8874G>C (p.Leu2958=)
c.8805G>C (p.Leu2935=)
c.3591G>C (p.Leu1197=)
c.9441G>C (p.Leu3147=)
c.9321G>C (p.Leu3107=)
c.9252G>C (p.Leu3084=)
c.7656G>C (p.Leu2552=)
n.9792G>C
 dbSNP gnomAD v2 gnomAD v4
6g.51748100C>TCA450613450PKHD1c.9516G>A (p.Leu3172=)
c.9387G>A (p.Leu3129=)
c.9378G>A (p.Leu3126=)
c.8874G>A (p.Leu2958=)
c.8805G>A (p.Leu2935=)
c.3591G>A (p.Leu1197=)
c.9441G>A (p.Leu3147=)
c.9321G>A (p.Leu3107=)
c.9252G>A (p.Leu3084=)
c.7656G>A (p.Leu2552=)
n.9792G>A
 gnomAD v4
6g.51748101A>CCA364420890PKHD1c.9515T>G (p.Leu3172Arg)
c.9386T>G (p.Leu3129Arg)
c.9377T>G (p.Leu3126Arg)
c.8873T>G (p.Leu2958Arg)
c.8804T>G (p.Leu2935Arg)
c.3590T>G (p.Leu1197Arg)
c.9440T>G (p.Leu3147Arg)
c.9320T>G (p.Leu3107Arg)
c.9251T>G (p.Leu3084Arg)
c.7655T>G (p.Leu2552Arg)
n.9791T>G
6g.51748101A>GCA364420891PKHD1c.9515T>C (p.Leu3172Pro)
c.9386T>C (p.Leu3129Pro)
c.9377T>C (p.Leu3126Pro)
c.8873T>C (p.Leu2958Pro)
c.8804T>C (p.Leu2935Pro)
c.3590T>C (p.Leu1197Pro)
c.9440T>C (p.Leu3147Pro)
c.9320T>C (p.Leu3107Pro)
c.9251T>C (p.Leu3084Pro)
c.7655T>C (p.Leu2552Pro)
n.9791T>C
6g.51748101A>TCA364420892PKHD1c.9515T>A (p.Leu3172Gln)
c.9386T>A (p.Leu3129Gln)
c.9377T>A (p.Leu3126Gln)
c.8873T>A (p.Leu2958Gln)
c.8804T>A (p.Leu2935Gln)
c.3590T>A (p.Leu1197Gln)
c.9440T>A (p.Leu3147Gln)
c.9320T>A (p.Leu3107Gln)
c.9251T>A (p.Leu3084Gln)
c.7655T>A (p.Leu2552Gln)
n.9791T>A
6g.51748102delCA2679078632PKHD1c.9514del (p.Leu3172TrpfsTer2)
c.9385del (p.Leu3129TrpfsTer2)
c.9376del (p.Leu3126TrpfsTer2)
c.8872del (p.Leu2958TrpfsTer2)
c.8803del (p.Leu2935TrpfsTer2)
c.3589del (p.Leu1197TrpfsTer2)
c.9439del (p.Leu3147TrpfsTer2)
c.9319del (p.Leu3107TrpfsTer2)
c.9250del (p.Leu3084TrpfsTer2)
c.7654del (p.Leu2552TrpfsTer2)
n.9790del
 gnomAD v4
6g.51748102G>ACA450613451PKHD1c.9514C>T (p.Leu3172=)
c.9385C>T (p.Leu3129=)
c.9376C>T (p.Leu3126=)
c.8872C>T (p.Leu2958=)
c.8803C>T (p.Leu2935=)
c.3589C>T (p.Leu1197=)
c.9439C>T (p.Leu3147=)
c.9319C>T (p.Leu3107=)
c.9250C>T (p.Leu3084=)
c.7654C>T (p.Leu2552=)
n.9790C>T
6g.51748102G>CCA364420893PKHD1c.9514C>G (p.Leu3172Val)
c.9385C>G (p.Leu3129Val)
c.9376C>G (p.Leu3126Val)
c.8872C>G (p.Leu2958Val)
c.8803C>G (p.Leu2935Val)
c.3589C>G (p.Leu1197Val)
c.9439C>G (p.Leu3147Val)
c.9319C>G (p.Leu3107Val)
c.9250C>G (p.Leu3084Val)
c.7654C>G (p.Leu2552Val)
n.9790C>G
6g.51748102G>TCA364420894PKHD1c.9514C>A (p.Leu3172Met)
c.9385C>A (p.Leu3129Met)
c.9376C>A (p.Leu3126Met)
c.8872C>A (p.Leu2958Met)
c.8803C>A (p.Leu2935Met)
c.3589C>A (p.Leu1197Met)
c.9439C>A (p.Leu3147Met)
c.9319C>A (p.Leu3107Met)
c.9250C>A (p.Leu3084Met)
c.7654C>A (p.Leu2552Met)
n.9790C>A
6g.51748103A>CCA450613453PKHD1c.9513T>G (p.Thr3171=)
c.9384T>G (p.Thr3128=)
c.9375T>G (p.Thr3125=)
c.8871T>G (p.Thr2957=)
c.8802T>G (p.Thr2934=)
c.3588T>G (p.Thr1196=)
c.9438T>G (p.Thr3146=)
c.9318T>G (p.Thr3106=)
c.9249T>G (p.Thr3083=)
c.7653T>G (p.Thr2551=)
n.9789T>G
6g.51748103A>GCA450613455PKHD1c.9513T>C (p.Thr3171=)
c.9384T>C (p.Thr3128=)
c.9375T>C (p.Thr3125=)
c.8871T>C (p.Thr2957=)
c.8802T>C (p.Thr2934=)
c.3588T>C (p.Thr1196=)
c.9438T>C (p.Thr3146=)
c.9318T>C (p.Thr3106=)
c.9249T>C (p.Thr3083=)
c.7653T>C (p.Thr2551=)
n.9789T>C
 ClinVar gnomAD v4
6g.51748103A>TCA450613454PKHD1c.9513T>A (p.Thr3171=)
c.9384T>A (p.Thr3128=)
c.9375T>A (p.Thr3125=)
c.8871T>A (p.Thr2957=)
c.8802T>A (p.Thr2934=)
c.3588T>A (p.Thr1196=)
c.9438T>A (p.Thr3146=)
c.9318T>A (p.Thr3106=)
c.9249T>A (p.Thr3083=)
c.7653T>A (p.Thr2551=)
n.9789T>A
6g.51748104G>ACA364420896PKHD1c.9512C>T (p.Thr3171Ile)
c.9383C>T (p.Thr3128Ile)
c.9374C>T (p.Thr3125Ile)
c.8870C>T (p.Thr2957Ile)
c.8801C>T (p.Thr2934Ile)
c.3587C>T (p.Thr1196Ile)
c.9437C>T (p.Thr3146Ile)
c.9317C>T (p.Thr3106Ile)
c.9248C>T (p.Thr3083Ile)
c.7652C>T (p.Thr2551Ile)
n.9788C>T
 gnomAD v4
6g.51748104G>CCA364420897PKHD1c.9512C>G (p.Thr3171Ser)
c.9383C>G (p.Thr3128Ser)
c.9374C>G (p.Thr3125Ser)
c.8870C>G (p.Thr2957Ser)
c.8801C>G (p.Thr2934Ser)
c.3587C>G (p.Thr1196Ser)
c.9437C>G (p.Thr3146Ser)
c.9317C>G (p.Thr3106Ser)
c.9248C>G (p.Thr3083Ser)
c.7652C>G (p.Thr2551Ser)
n.9788C>G
6g.51748104G>TCA364420895PKHD1c.9512C>A (p.Thr3171Asn)
c.9383C>A (p.Thr3128Asn)
c.9374C>A (p.Thr3125Asn)
c.8870C>A (p.Thr2957Asn)
c.8801C>A (p.Thr2934Asn)
c.3587C>A (p.Thr1196Asn)
c.9437C>A (p.Thr3146Asn)
c.9317C>A (p.Thr3106Asn)
c.9248C>A (p.Thr3083Asn)
c.7652C>A (p.Thr2551Asn)
n.9788C>A
6g.51748105T>ACA364420898PKHD1c.9511A>T (p.Thr3171Ser)
c.9382A>T (p.Thr3128Ser)
c.9373A>T (p.Thr3125Ser)
c.8869A>T (p.Thr2957Ser)
c.8800A>T (p.Thr2934Ser)
c.3586A>T (p.Thr1196Ser)
c.9436A>T (p.Thr3146Ser)
c.9316A>T (p.Thr3106Ser)
c.9247A>T (p.Thr3083Ser)
c.7651A>T (p.Thr2551Ser)
n.9787A>T
6g.51748105T>CCA364420899PKHD1c.9511A>G (p.Thr3171Ala)
c.9382A>G (p.Thr3128Ala)
c.9373A>G (p.Thr3125Ala)
c.8869A>G (p.Thr2957Ala)
c.8800A>G (p.Thr2934Ala)
c.3586A>G (p.Thr1196Ala)
c.9436A>G (p.Thr3146Ala)
c.9316A>G (p.Thr3106Ala)
c.9247A>G (p.Thr3083Ala)
c.7651A>G (p.Thr2551Ala)
n.9787A>G
6g.51748105T>GCA364420900PKHD1c.9511A>C (p.Thr3171Pro)
c.9382A>C (p.Thr3128Pro)
c.9373A>C (p.Thr3125Pro)
c.8869A>C (p.Thr2957Pro)
c.8800A>C (p.Thr2934Pro)
c.3586A>C (p.Thr1196Pro)
c.9436A>C (p.Thr3146Pro)
c.9316A>C (p.Thr3106Pro)
c.9247A>C (p.Thr3083Pro)
c.7651A>C (p.Thr2551Pro)
n.9787A>C
6g.51748106A>CCA364420901PKHD1c.9510T>G (p.Ile3170Met)
c.9381T>G (p.Ile3127Met)
c.9372T>G (p.Ile3124Met)
c.8868T>G (p.Ile2956Met)
c.8799T>G (p.Ile2933Met)
c.3585T>G (p.Ile1195Met)
c.9435T>G (p.Ile3145Met)
c.9315T>G (p.Ile3105Met)
c.9246T>G (p.Ile3082Met)
c.7650T>G (p.Ile2550Met)
n.9786T>G
6g.51748106A>GCA450613459PKHD1c.9510T>C (p.Ile3170=)
c.9381T>C (p.Ile3127=)
c.9372T>C (p.Ile3124=)
c.8868T>C (p.Ile2956=)
c.8799T>C (p.Ile2933=)
c.3585T>C (p.Ile1195=)
c.9435T>C (p.Ile3145=)
c.9315T>C (p.Ile3105=)
c.9246T>C (p.Ile3082=)
c.7650T>C (p.Ile2550=)
n.9786T>C
6g.51748106A>TCA450613460PKHD1c.9510T>A (p.Ile3170=)
c.9381T>A (p.Ile3127=)
c.9372T>A (p.Ile3124=)
c.8868T>A (p.Ile2956=)
c.8799T>A (p.Ile2933=)
c.3585T>A (p.Ile1195=)
c.9435T>A (p.Ile3145=)
c.9315T>A (p.Ile3105=)
c.9246T>A (p.Ile3082=)
c.7650T>A (p.Ile2550=)
n.9786T>A
6g.51748107A>CCA364420902PKHD1c.9509T>G (p.Ile3170Ser)
c.9380T>G (p.Ile3127Ser)
c.9371T>G (p.Ile3124Ser)
c.8867T>G (p.Ile2956Ser)
c.8798T>G (p.Ile2933Ser)
c.3584T>G (p.Ile1195Ser)
c.9434T>G (p.Ile3145Ser)
c.9314T>G (p.Ile3105Ser)
c.9245T>G (p.Ile3082Ser)
c.7649T>G (p.Ile2550Ser)
n.9785T>G
6g.51748107A>GCA364420903PKHD1c.9509T>C (p.Ile3170Thr)
c.9380T>C (p.Ile3127Thr)
c.9371T>C (p.Ile3124Thr)
c.8867T>C (p.Ile2956Thr)
c.8798T>C (p.Ile2933Thr)
c.3584T>C (p.Ile1195Thr)
c.9434T>C (p.Ile3145Thr)
c.9314T>C (p.Ile3105Thr)
c.9245T>C (p.Ile3082Thr)
c.7649T>C (p.Ile2550Thr)
n.9785T>C
6g.51748107A>TCA364420904PKHD1c.9509T>A (p.Ile3170Asn)
c.9380T>A (p.Ile3127Asn)
c.9371T>A (p.Ile3124Asn)
c.8867T>A (p.Ile2956Asn)
c.8798T>A (p.Ile2933Asn)
c.3584T>A (p.Ile1195Asn)
c.9434T>A (p.Ile3145Asn)
c.9314T>A (p.Ile3105Asn)
c.9245T>A (p.Ile3082Asn)
c.7649T>A (p.Ile2550Asn)
n.9785T>A
6g.51748108T>ACA364420905PKHD1c.9508A>T (p.Ile3170Phe)
c.9379A>T (p.Ile3127Phe)
c.9370A>T (p.Ile3124Phe)
c.8866A>T (p.Ile2956Phe)
c.8797A>T (p.Ile2933Phe)
c.3583A>T (p.Ile1195Phe)
c.9433A>T (p.Ile3145Phe)
c.9313A>T (p.Ile3105Phe)
c.9244A>T (p.Ile3082Phe)
c.7648A>T (p.Ile2550Phe)
n.9784A>T
6g.51748108T>CCA364420906PKHD1c.9508A>G (p.Ile3170Val)
c.9379A>G (p.Ile3127Val)
c.9370A>G (p.Ile3124Val)
c.8866A>G (p.Ile2956Val)
c.8797A>G (p.Ile2933Val)
c.3583A>G (p.Ile1195Val)
c.9433A>G (p.Ile3145Val)
c.9313A>G (p.Ile3105Val)
c.9244A>G (p.Ile3082Val)
c.7648A>G (p.Ile2550Val)
n.9784A>G
6g.51748108T>GCA364420907PKHD1c.9508A>C (p.Ile3170Leu)
c.9379A>C (p.Ile3127Leu)
c.9370A>C (p.Ile3124Leu)
c.8866A>C (p.Ile2956Leu)
c.8797A>C (p.Ile2933Leu)
c.3583A>C (p.Ile1195Leu)
c.9433A>C (p.Ile3145Leu)
c.9313A>C (p.Ile3105Leu)
c.9244A>C (p.Ile3082Leu)
c.7648A>C (p.Ile2550Leu)
n.9784A>C
6g.51748109G>ACA450613461PKHD1c.9507C>T (p.Asn3169=)
c.9378C>T (p.Asn3126=)
c.9369C>T (p.Asn3123=)
c.8865C>T (p.Asn2955=)
c.8796C>T (p.Asn2932=)
c.3582C>T (p.Asn1194=)
c.9432C>T (p.Asn3144=)
c.9312C>T (p.Asn3104=)
c.9243C>T (p.Asn3081=)
c.7647C>T (p.Asn2549=)
n.9783C>T
 ClinVar dbSNP gnomAD v4
6g.51748109G>CCA364420908PKHD1c.9507C>G (p.Asn3169Lys)
c.9378C>G (p.Asn3126Lys)
c.9369C>G (p.Asn3123Lys)
c.8865C>G (p.Asn2955Lys)
c.8796C>G (p.Asn2932Lys)
c.3582C>G (p.Asn1194Lys)
c.9432C>G (p.Asn3144Lys)
c.9312C>G (p.Asn3104Lys)
c.9243C>G (p.Asn3081Lys)
c.7647C>G (p.Asn2549Lys)
n.9783C>G
6g.51748109G=CA1628502537PKHD1c.9507C= (p.Asn3169=)
c.9378C= (p.Asn3126=)
c.9369C= (p.Asn3123=)
c.8865C= (p.Asn2955=)
c.8796C= (p.Asn2932=)
c.3582C= (p.Asn1194=)
c.9432C= (p.Asn3144=)
c.9312C= (p.Asn3104=)
c.9243C= (p.Asn3081=)
c.7647C= (p.Asn2549=)
n.9783C=
6g.51748109G>TCA364420909PKHD1c.9507C>A (p.Asn3169Lys)
c.9378C>A (p.Asn3126Lys)
c.9369C>A (p.Asn3123Lys)
c.8865C>A (p.Asn2955Lys)
c.8796C>A (p.Asn2932Lys)
c.3582C>A (p.Asn1194Lys)
c.9432C>A (p.Asn3144Lys)
c.9312C>A (p.Asn3104Lys)
c.9243C>A (p.Asn3081Lys)
c.7647C>A (p.Asn2549Lys)
n.9783C>A
6g.51748110T>ACA364420912PKHD1c.9506A>T (p.Asn3169Ile)
c.9377A>T (p.Asn3126Ile)
c.9368A>T (p.Asn3123Ile)
c.8864A>T (p.Asn2955Ile)
c.8795A>T (p.Asn2932Ile)
c.3581A>T (p.Asn1194Ile)
c.9431A>T (p.Asn3144Ile)
c.9311A>T (p.Asn3104Ile)
c.9242A>T (p.Asn3081Ile)
c.7646A>T (p.Asn2549Ile)
n.9782A>T
6g.51748110T>CCA364420910PKHD1c.9506A>G (p.Asn3169Ser)
c.9377A>G (p.Asn3126Ser)
c.9368A>G (p.Asn3123Ser)
c.8864A>G (p.Asn2955Ser)
c.8795A>G (p.Asn2932Ser)
c.3581A>G (p.Asn1194Ser)
c.9431A>G (p.Asn3144Ser)
c.9311A>G (p.Asn3104Ser)
c.9242A>G (p.Asn3081Ser)
c.7646A>G (p.Asn2549Ser)
n.9782A>G
6g.51748110T>GCA364420911PKHD1c.9506A>C (p.Asn3169Thr)
c.9377A>C (p.Asn3126Thr)
c.9368A>C (p.Asn3123Thr)
c.8864A>C (p.Asn2955Thr)
c.8795A>C (p.Asn2932Thr)
c.3581A>C (p.Asn1194Thr)
c.9431A>C (p.Asn3144Thr)
c.9311A>C (p.Asn3104Thr)
c.9242A>C (p.Asn3081Thr)
c.7646A>C (p.Asn2549Thr)
n.9782A>C
6g.51748111T>ACA364420913PKHD1c.9505A>T (p.Asn3169Tyr)
c.9376A>T (p.Asn3126Tyr)
c.9367A>T (p.Asn3123Tyr)
c.8863A>T (p.Asn2955Tyr)
c.8794A>T (p.Asn2932Tyr)
c.3580A>T (p.Asn1194Tyr)
c.9430A>T (p.Asn3144Tyr)
c.9310A>T (p.Asn3104Tyr)
c.9241A>T (p.Asn3081Tyr)
c.7645A>T (p.Asn2549Tyr)
n.9781A>T
6g.51748111T>CCA364420914PKHD1c.9505A>G (p.Asn3169Asp)
c.9376A>G (p.Asn3126Asp)
c.9367A>G (p.Asn3123Asp)
c.8863A>G (p.Asn2955Asp)
c.8794A>G (p.Asn2932Asp)
c.3580A>G (p.Asn1194Asp)
c.9430A>G (p.Asn3144Asp)
c.9310A>G (p.Asn3104Asp)
c.9241A>G (p.Asn3081Asp)
c.7645A>G (p.Asn2549Asp)
n.9781A>G
6g.51748111T>GCA364420915PKHD1c.9505A>C (p.Asn3169His)
c.9376A>C (p.Asn3126His)
c.9367A>C (p.Asn3123His)
c.8863A>C (p.Asn2955His)
c.8794A>C (p.Asn2932His)
c.3580A>C (p.Asn1194His)
c.9430A>C (p.Asn3144His)
c.9310A>C (p.Asn3104His)
c.9241A>C (p.Asn3081His)
c.7645A>C (p.Asn2549His)
n.9781A>C
6g.51748112C>ACA364420916PKHD1c.9504G>T (p.Glu3168Asp)
c.9375G>T (p.Glu3125Asp)
c.9366G>T (p.Glu3122Asp)
c.8862G>T (p.Glu2954Asp)
c.8793G>T (p.Glu2931Asp)
c.3579G>T (p.Glu1193Asp)
c.9429G>T (p.Glu3143Asp)
c.9309G>T (p.Glu3103Asp)
c.9240G>T (p.Glu3080Asp)
c.7644G>T (p.Glu2548Asp)
n.9780G>T
6g.51748112C=CA1628502541PKHD1c.9504G= (p.Glu3168=)
c.9375G= (p.Glu3125=)
c.9366G= (p.Glu3122=)
c.8862G= (p.Glu2954=)
c.8793G= (p.Glu2931=)
c.3579G= (p.Glu1193=)
c.9429G= (p.Glu3143=)
c.9309G= (p.Glu3103=)
c.9240G= (p.Glu3080=)
c.7644G= (p.Glu2548=)
n.9780G=
6g.51748112C>GCA364420917PKHD1c.9504G>C (p.Glu3168Asp)
c.9375G>C (p.Glu3125Asp)
c.9366G>C (p.Glu3122Asp)
c.8862G>C (p.Glu2954Asp)
c.8793G>C (p.Glu2931Asp)
c.3579G>C (p.Glu1193Asp)
c.9429G>C (p.Glu3143Asp)
c.9309G>C (p.Glu3103Asp)
c.9240G>C (p.Glu3080Asp)
c.7644G>C (p.Glu2548Asp)
n.9780G>C
6g.51748112C>TCA138896146PKHD1c.9504G>A (p.Glu3168=)
c.9375G>A (p.Glu3125=)
c.9366G>A (p.Glu3122=)
c.8862G>A (p.Glu2954=)
c.8793G>A (p.Glu2931=)
c.3579G>A (p.Glu1193=)
c.9429G>A (p.Glu3143=)
c.9309G>A (p.Glu3103=)
c.9240G>A (p.Glu3080=)
c.7644G>A (p.Glu2548=)
n.9780G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748113T>ACA364420918PKHD1c.9503A>T (p.Glu3168Val)
c.9374A>T (p.Glu3125Val)
c.9365A>T (p.Glu3122Val)
c.8861A>T (p.Glu2954Val)
c.8792A>T (p.Glu2931Val)
c.3578A>T (p.Glu1193Val)
c.9428A>T (p.Glu3143Val)
c.9308A>T (p.Glu3103Val)
c.9239A>T (p.Glu3080Val)
c.7643A>T (p.Glu2548Val)
n.9779A>T
6g.51748113T>CCA364420919PKHD1c.9503A>G (p.Glu3168Gly)
c.9374A>G (p.Glu3125Gly)
c.9365A>G (p.Glu3122Gly)
c.8861A>G (p.Glu2954Gly)
c.8792A>G (p.Glu2931Gly)
c.3578A>G (p.Glu1193Gly)
c.9428A>G (p.Glu3143Gly)
c.9308A>G (p.Glu3103Gly)
c.9239A>G (p.Glu3080Gly)
c.7643A>G (p.Glu2548Gly)
n.9779A>G
6g.51748113T>GCA364420920PKHD1c.9503A>C (p.Glu3168Ala)
c.9374A>C (p.Glu3125Ala)
c.9365A>C (p.Glu3122Ala)
c.8861A>C (p.Glu2954Ala)
c.8792A>C (p.Glu2931Ala)
c.3578A>C (p.Glu1193Ala)
c.9428A>C (p.Glu3143Ala)
c.9308A>C (p.Glu3103Ala)
c.9239A>C (p.Glu3080Ala)
c.7643A>C (p.Glu2548Ala)
n.9779A>C
6g.51748114C>ACA364420921PKHD1c.9502G>T (p.Glu3168Ter)
c.9373G>T (p.Glu3125Ter)
c.9364G>T (p.Glu3122Ter)
c.8860G>T (p.Glu2954Ter)
c.8791G>T (p.Glu2931Ter)
c.3577G>T (p.Glu1193Ter)
c.9427G>T (p.Glu3143Ter)
c.9307G>T (p.Glu3103Ter)
c.9238G>T (p.Glu3080Ter)
c.7642G>T (p.Glu2548Ter)
n.9778G>T
 gnomAD v4
6g.51748114C>GCA364420922PKHD1c.9502G>C (p.Glu3168Gln)
c.9373G>C (p.Glu3125Gln)
c.9364G>C (p.Glu3122Gln)
c.8860G>C (p.Glu2954Gln)
c.8791G>C (p.Glu2931Gln)
c.3577G>C (p.Glu1193Gln)
c.9427G>C (p.Glu3143Gln)
c.9307G>C (p.Glu3103Gln)
c.9238G>C (p.Glu3080Gln)
c.7642G>C (p.Glu2548Gln)
n.9778G>C
6g.51748114C>TCA364420923PKHD1c.9502G>A (p.Glu3168Lys)
c.9373G>A (p.Glu3125Lys)
c.9364G>A (p.Glu3122Lys)
c.8860G>A (p.Glu2954Lys)
c.8791G>A (p.Glu2931Lys)
c.3577G>A (p.Glu1193Lys)
c.9427G>A (p.Glu3143Lys)
c.9307G>A (p.Glu3103Lys)
c.9238G>A (p.Glu3080Lys)
c.7642G>A (p.Glu2548Lys)
n.9778G>A
 gnomAD v4
6g.51748115T>ACA450613463PKHD1c.9501A>T (p.Ile3167=)
c.9372A>T (p.Ile3124=)
c.9363A>T (p.Ile3121=)
c.8859A>T (p.Ile2953=)
c.8790A>T (p.Ile2930=)
c.3576A>T (p.Ile1192=)
c.9426A>T (p.Ile3142=)
c.9306A>T (p.Ile3102=)
c.9237A>T (p.Ile3079=)
c.7641A>T (p.Ile2547=)
n.9777A>T
6g.51748115T>CCA364420924PKHD1c.9501A>G (p.Ile3167Met)
c.9372A>G (p.Ile3124Met)
c.9363A>G (p.Ile3121Met)
c.8859A>G (p.Ile2953Met)
c.8790A>G (p.Ile2930Met)
c.3576A>G (p.Ile1192Met)
c.9426A>G (p.Ile3142Met)
c.9306A>G (p.Ile3102Met)
c.9237A>G (p.Ile3079Met)
c.7641A>G (p.Ile2547Met)
n.9777A>G
 dbSNP gnomAD v2
6g.51748115T>GCA450613465PKHD1c.9501A>C (p.Ile3167=)
c.9372A>C (p.Ile3124=)
c.9363A>C (p.Ile3121=)
c.8859A>C (p.Ile2953=)
c.8790A>C (p.Ile2930=)
c.3576A>C (p.Ile1192=)
c.9426A>C (p.Ile3142=)
c.9306A>C (p.Ile3102=)
c.9237A>C (p.Ile3079=)
c.7641A>C (p.Ile2547=)
n.9777A>C
 gnomAD v4
6g.51748115T=CA1628502546PKHD1c.9501A= (p.Ile3167=)
c.9372A= (p.Ile3124=)
c.9363A= (p.Ile3121=)
c.8859A= (p.Ile2953=)
c.8790A= (p.Ile2930=)
c.3576A= (p.Ile1192=)
c.9426A= (p.Ile3142=)
c.9306A= (p.Ile3102=)
c.9237A= (p.Ile3079=)
c.7641A= (p.Ile2547=)
n.9777A=
6g.51748116A=CA1628502550PKHD1c.9500T= (p.Ile3167=)
c.9371T= (p.Ile3124=)
c.9362T= (p.Ile3121=)
c.8858T= (p.Ile2953=)
c.8789T= (p.Ile2930=)
c.3575T= (p.Ile1192=)
c.9425T= (p.Ile3142=)
c.9305T= (p.Ile3102=)
c.9236T= (p.Ile3079=)
c.7640T= (p.Ile2547=)
n.9776T=
6g.51748116A>CCA364420926PKHD1c.9500T>G (p.Ile3167Arg)
c.9371T>G (p.Ile3124Arg)
c.9362T>G (p.Ile3121Arg)
c.8858T>G (p.Ile2953Arg)
c.8789T>G (p.Ile2930Arg)
c.3575T>G (p.Ile1192Arg)
c.9425T>G (p.Ile3142Arg)
c.9305T>G (p.Ile3102Arg)
c.9236T>G (p.Ile3079Arg)
c.7640T>G (p.Ile2547Arg)
n.9776T>G
 gnomAD v4
6g.51748116A>GCA3851381PKHD1c.9500T>C (p.Ile3167Thr)
c.9371T>C (p.Ile3124Thr)
c.9362T>C (p.Ile3121Thr)
c.8858T>C (p.Ile2953Thr)
c.8789T>C (p.Ile2930Thr)
c.3575T>C (p.Ile1192Thr)
c.9425T>C (p.Ile3142Thr)
c.9305T>C (p.Ile3102Thr)
c.9236T>C (p.Ile3079Thr)
c.7640T>C (p.Ile2547Thr)
n.9776T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748116A>TCA364420925PKHD1c.9500T>A (p.Ile3167Lys)
c.9371T>A (p.Ile3124Lys)
c.9362T>A (p.Ile3121Lys)
c.8858T>A (p.Ile2953Lys)
c.8789T>A (p.Ile2930Lys)
c.3575T>A (p.Ile1192Lys)
c.9425T>A (p.Ile3142Lys)
c.9305T>A (p.Ile3102Lys)
c.9236T>A (p.Ile3079Lys)
c.7640T>A (p.Ile2547Lys)
n.9776T>A
6g.51748117T>ACA364420927PKHD1c.9499A>T (p.Ile3167Leu)
c.9370A>T (p.Ile3124Leu)
c.9361A>T (p.Ile3121Leu)
c.8857A>T (p.Ile2953Leu)
c.8788A>T (p.Ile2930Leu)
c.3574A>T (p.Ile1192Leu)
c.9424A>T (p.Ile3142Leu)
c.9304A>T (p.Ile3102Leu)
c.9235A>T (p.Ile3079Leu)
c.7639A>T (p.Ile2547Leu)
n.9775A>T
6g.51748117T>CCA364420928PKHD1c.9499A>G (p.Ile3167Val)
c.9370A>G (p.Ile3124Val)
c.9361A>G (p.Ile3121Val)
c.8857A>G (p.Ile2953Val)
c.8788A>G (p.Ile2930Val)
c.3574A>G (p.Ile1192Val)
c.9424A>G (p.Ile3142Val)
c.9304A>G (p.Ile3102Val)
c.9235A>G (p.Ile3079Val)
c.7639A>G (p.Ile2547Val)
n.9775A>G
 gnomAD v4
6g.51748117T>GCA364420929PKHD1c.9499A>C (p.Ile3167Leu)
c.9370A>C (p.Ile3124Leu)
c.9361A>C (p.Ile3121Leu)
c.8857A>C (p.Ile2953Leu)
c.8788A>C (p.Ile2930Leu)
c.3574A>C (p.Ile1192Leu)
c.9424A>C (p.Ile3142Leu)
c.9304A>C (p.Ile3102Leu)
c.9235A>C (p.Ile3079Leu)
c.7639A>C (p.Ile2547Leu)
n.9775A>C
6g.51748118C>ACA364420930PKHD1c.9498G>T (p.Glu3166Asp)
c.9369G>T (p.Glu3123Asp)
c.9360G>T (p.Glu3120Asp)
c.8856G>T (p.Glu2952Asp)
c.8787G>T (p.Glu2929Asp)
c.3573G>T (p.Glu1191Asp)
c.9423G>T (p.Glu3141Asp)
c.9303G>T (p.Glu3101Asp)
c.9234G>T (p.Glu3078Asp)
c.7638G>T (p.Glu2546Asp)
n.9774G>T
6g.51748118C>GCA364420931PKHD1c.9498G>C (p.Glu3166Asp)
c.9369G>C (p.Glu3123Asp)
c.9360G>C (p.Glu3120Asp)
c.8856G>C (p.Glu2952Asp)
c.8787G>C (p.Glu2929Asp)
c.3573G>C (p.Glu1191Asp)
c.9423G>C (p.Glu3141Asp)
c.9303G>C (p.Glu3101Asp)
c.9234G>C (p.Glu3078Asp)
c.7638G>C (p.Glu2546Asp)
n.9774G>C
6g.51748118C>TCA450613467PKHD1c.9498G>A (p.Glu3166=)
c.9369G>A (p.Glu3123=)
c.9360G>A (p.Glu3120=)
c.8856G>A (p.Glu2952=)
c.8787G>A (p.Glu2929=)
c.3573G>A (p.Glu1191=)
c.9423G>A (p.Glu3141=)
c.9303G>A (p.Glu3101=)
c.9234G>A (p.Glu3078=)
c.7638G>A (p.Glu2546=)
n.9774G>A
6g.51748119T>ACA364420934PKHD1c.9497A>T (p.Glu3166Val)
c.9368A>T (p.Glu3123Val)
c.9359A>T (p.Glu3120Val)
c.8855A>T (p.Glu2952Val)
c.8786A>T (p.Glu2929Val)
c.3572A>T (p.Glu1191Val)
c.9422A>T (p.Glu3141Val)
c.9302A>T (p.Glu3101Val)
c.9233A>T (p.Glu3078Val)
c.7637A>T (p.Glu2546Val)
n.9773A>T
6g.51748119T>CCA364420933PKHD1c.9497A>G (p.Glu3166Gly)
c.9368A>G (p.Glu3123Gly)
c.9359A>G (p.Glu3120Gly)
c.8855A>G (p.Glu2952Gly)
c.8786A>G (p.Glu2929Gly)
c.3572A>G (p.Glu1191Gly)
c.9422A>G (p.Glu3141Gly)
c.9302A>G (p.Glu3101Gly)
c.9233A>G (p.Glu3078Gly)
c.7637A>G (p.Glu2546Gly)
n.9773A>G
6g.51748119T>GCA364420932PKHD1c.9497A>C (p.Glu3166Ala)
c.9368A>C (p.Glu3123Ala)
c.9359A>C (p.Glu3120Ala)
c.8855A>C (p.Glu2952Ala)
c.8786A>C (p.Glu2929Ala)
c.3572A>C (p.Glu1191Ala)
c.9422A>C (p.Glu3141Ala)
c.9302A>C (p.Glu3101Ala)
c.9233A>C (p.Glu3078Ala)
c.7637A>C (p.Glu2546Ala)
n.9773A>C
6g.51748120C>ACA364420935PKHD1c.9496G>T (p.Glu3166Ter)
c.9367G>T (p.Glu3123Ter)
c.9358G>T (p.Glu3120Ter)
c.8854G>T (p.Glu2952Ter)
c.8785G>T (p.Glu2929Ter)
c.3571G>T (p.Glu1191Ter)
c.9421G>T (p.Glu3141Ter)
c.9301G>T (p.Glu3101Ter)
c.9232G>T (p.Glu3078Ter)
c.7636G>T (p.Glu2546Ter)
n.9772G>T
6g.51748120C=CA1628502556PKHD1c.9496G= (p.Glu3166=)
c.9367G= (p.Glu3123=)
c.9358G= (p.Glu3120=)
c.8854G= (p.Glu2952=)
c.8785G= (p.Glu2929=)
c.3571G= (p.Glu1191=)
c.9421G= (p.Glu3141=)
c.9301G= (p.Glu3101=)
c.9232G= (p.Glu3078=)
c.7636G= (p.Glu2546=)
n.9772G=
6g.51748120C>GCA3851382PKHD1c.9496G>C (p.Glu3166Gln)
c.9367G>C (p.Glu3123Gln)
c.9358G>C (p.Glu3120Gln)
c.8854G>C (p.Glu2952Gln)
c.8785G>C (p.Glu2929Gln)
c.3571G>C (p.Glu1191Gln)
c.9421G>C (p.Glu3141Gln)
c.9301G>C (p.Glu3101Gln)
c.9232G>C (p.Glu3078Gln)
c.7636G>C (p.Glu2546Gln)
n.9772G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748120C>TCA364420936PKHD1c.9496G>A (p.Glu3166Lys)
c.9367G>A (p.Glu3123Lys)
c.9358G>A (p.Glu3120Lys)
c.8854G>A (p.Glu2952Lys)
c.8785G>A (p.Glu2929Lys)
c.3571G>A (p.Glu1191Lys)
c.9421G>A (p.Glu3141Lys)
c.9301G>A (p.Glu3101Lys)
c.9232G>A (p.Glu3078Lys)
c.7636G>A (p.Glu2546Lys)
n.9772G>A
 gnomAD v4
6g.51748121C>ACA450613469PKHD1c.9495G>T (p.Val3165=)
c.9366G>T (p.Val3122=)
c.9357G>T (p.Val3119=)
c.8853G>T (p.Val2951=)
c.8784G>T (p.Val2928=)
c.3570G>T (p.Val1190=)
c.9420G>T (p.Val3140=)
c.9300G>T (p.Val3100=)
c.9231G>T (p.Val3077=)
c.7635G>T (p.Val2545=)
n.9771G>T
6g.51748121C>GCA450613470PKHD1c.9495G>C (p.Val3165=)
c.9366G>C (p.Val3122=)
c.9357G>C (p.Val3119=)
c.8853G>C (p.Val2951=)
c.8784G>C (p.Val2928=)
c.3570G>C (p.Val1190=)
c.9420G>C (p.Val3140=)
c.9300G>C (p.Val3100=)
c.9231G>C (p.Val3077=)
c.7635G>C (p.Val2545=)
n.9771G>C
6g.51748121C>TCA450613471PKHD1c.9495G>A (p.Val3165=)
c.9366G>A (p.Val3122=)
c.9357G>A (p.Val3119=)
c.8853G>A (p.Val2951=)
c.8784G>A (p.Val2928=)
c.3570G>A (p.Val1190=)
c.9420G>A (p.Val3140=)
c.9300G>A (p.Val3100=)
c.9231G>A (p.Val3077=)
c.7635G>A (p.Val2545=)
n.9771G>A
 COSMIC COSMIC
6g.51748122A>CCA364420937PKHD1c.9494T>G (p.Val3165Gly)
c.9365T>G (p.Val3122Gly)
c.9356T>G (p.Val3119Gly)
c.8852T>G (p.Val2951Gly)
c.8783T>G (p.Val2928Gly)
c.3569T>G (p.Val1190Gly)
c.9419T>G (p.Val3140Gly)
c.9299T>G (p.Val3100Gly)
c.9230T>G (p.Val3077Gly)
c.7634T>G (p.Val2545Gly)
n.9770T>G
6g.51748122A>GCA364420938PKHD1c.9494T>C (p.Val3165Ala)
c.9365T>C (p.Val3122Ala)
c.9356T>C (p.Val3119Ala)
c.8852T>C (p.Val2951Ala)
c.8783T>C (p.Val2928Ala)
c.3569T>C (p.Val1190Ala)
c.9419T>C (p.Val3140Ala)
c.9299T>C (p.Val3100Ala)
c.9230T>C (p.Val3077Ala)
c.7634T>C (p.Val2545Ala)
n.9770T>C
6g.51748122A>TCA364420939PKHD1c.9494T>A (p.Val3165Glu)
c.9365T>A (p.Val3122Glu)
c.9356T>A (p.Val3119Glu)
c.8852T>A (p.Val2951Glu)
c.8783T>A (p.Val2928Glu)
c.3569T>A (p.Val1190Glu)
c.9419T>A (p.Val3140Glu)
c.9299T>A (p.Val3100Glu)
c.9230T>A (p.Val3077Glu)
c.7634T>A (p.Val2545Glu)
n.9770T>A
6g.51748123C>ACA364420940PKHD1c.9493G>T (p.Val3165Leu)
c.9364G>T (p.Val3122Leu)
c.9355G>T (p.Val3119Leu)
c.8851G>T (p.Val2951Leu)
c.8782G>T (p.Val2928Leu)
c.3568G>T (p.Val1190Leu)
c.9418G>T (p.Val3140Leu)
c.9298G>T (p.Val3100Leu)
c.9229G>T (p.Val3077Leu)
c.7633G>T (p.Val2545Leu)
n.9769G>T
6g.51748123C=CA1628502577PKHD1c.9493G= (p.Val3165=)
c.9364G= (p.Val3122=)
c.9355G= (p.Val3119=)
c.8851G= (p.Val2951=)
c.8782G= (p.Val2928=)
c.3568G= (p.Val1190=)
c.9418G= (p.Val3140=)
c.9298G= (p.Val3100=)
c.9229G= (p.Val3077=)
c.7633G= (p.Val2545=)
n.9769G=
6g.51748123C>GCA364420941PKHD1c.9493G>C (p.Val3165Leu)
c.9364G>C (p.Val3122Leu)
c.9355G>C (p.Val3119Leu)
c.8851G>C (p.Val2951Leu)
c.8782G>C (p.Val2928Leu)
c.3568G>C (p.Val1190Leu)
c.9418G>C (p.Val3140Leu)
c.9298G>C (p.Val3100Leu)
c.9229G>C (p.Val3077Leu)
c.7633G>C (p.Val2545Leu)
n.9769G>C
 dbSNP gnomAD v3 gnomAD v4
6g.51748123C>TCA3851383PKHD1c.9493G>A (p.Val3165Met)
c.9364G>A (p.Val3122Met)
c.9355G>A (p.Val3119Met)
c.8851G>A (p.Val2951Met)
c.8782G>A (p.Val2928Met)
c.3568G>A (p.Val1190Met)
c.9418G>A (p.Val3140Met)
c.9298G>A (p.Val3100Met)
c.9229G>A (p.Val3077Met)
c.7633G>A (p.Val2545Met)
n.9769G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748124G>ACA149537PKHD1c.9492C>T (p.Ser3164=)
c.9363C>T (p.Ser3121=)
c.9354C>T (p.Ser3118=)
c.8850C>T (p.Ser2950=)
c.8781C>T (p.Ser2927=)
c.3567C>T (p.Ser1189=)
c.9417C>T (p.Ser3139=)
c.9297C>T (p.Ser3099=)
c.9228C>T (p.Ser3076=)
c.7632C>T (p.Ser2544=)
n.9768C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748124G>CCA364420942PKHD1c.9492C>G (p.Ser3164Arg)
c.9363C>G (p.Ser3121Arg)
c.9354C>G (p.Ser3118Arg)
c.8850C>G (p.Ser2950Arg)
c.8781C>G (p.Ser2927Arg)
c.3567C>G (p.Ser1189Arg)
c.9417C>G (p.Ser3139Arg)
c.9297C>G (p.Ser3099Arg)
c.9228C>G (p.Ser3076Arg)
c.7632C>G (p.Ser2544Arg)
n.9768C>G
6g.51748124G=CA1628502578PKHD1c.9492C= (p.Ser3164=)
c.9363C= (p.Ser3121=)
c.9354C= (p.Ser3118=)
c.8850C= (p.Ser2950=)
c.8781C= (p.Ser2927=)
c.3567C= (p.Ser1189=)
c.9417C= (p.Ser3139=)
c.9297C= (p.Ser3099=)
c.9228C= (p.Ser3076=)
c.7632C= (p.Ser2544=)
n.9768C=
6g.51748124G>TCA364420943PKHD1c.9492C>A (p.Ser3164Arg)
c.9363C>A (p.Ser3121Arg)
c.9354C>A (p.Ser3118Arg)
c.8850C>A (p.Ser2950Arg)
c.8781C>A (p.Ser2927Arg)
c.3567C>A (p.Ser1189Arg)
c.9417C>A (p.Ser3139Arg)
c.9297C>A (p.Ser3099Arg)
c.9228C>A (p.Ser3076Arg)
c.7632C>A (p.Ser2544Arg)
n.9768C>A
6g.51748125C>ACA364420944PKHD1c.9491G>T (p.Ser3164Ile)
c.9362G>T (p.Ser3121Ile)
c.9353G>T (p.Ser3118Ile)
c.8849G>T (p.Ser2950Ile)
c.8780G>T (p.Ser2927Ile)
c.3566G>T (p.Ser1189Ile)
c.9416G>T (p.Ser3139Ile)
c.9296G>T (p.Ser3099Ile)
c.9227G>T (p.Ser3076Ile)
c.7631G>T (p.Ser2544Ile)
n.9767G>T
6g.51748125C>GCA364420945PKHD1c.9491G>C (p.Ser3164Thr)
c.9362G>C (p.Ser3121Thr)
c.9353G>C (p.Ser3118Thr)
c.8849G>C (p.Ser2950Thr)
c.8780G>C (p.Ser2927Thr)
c.3566G>C (p.Ser1189Thr)
c.9416G>C (p.Ser3139Thr)
c.9296G>C (p.Ser3099Thr)
c.9227G>C (p.Ser3076Thr)
c.7631G>C (p.Ser2544Thr)
n.9767G>C
6g.51748125C>TCA364420946PKHD1c.9491G>A (p.Ser3164Asn)
c.9362G>A (p.Ser3121Asn)
c.9353G>A (p.Ser3118Asn)
c.8849G>A (p.Ser2950Asn)
c.8780G>A (p.Ser2927Asn)
c.3566G>A (p.Ser1189Asn)
c.9416G>A (p.Ser3139Asn)
c.9296G>A (p.Ser3099Asn)
c.9227G>A (p.Ser3076Asn)
c.7631G>A (p.Ser2544Asn)
n.9767G>A
6g.51748126T>ACA364420947PKHD1c.9490A>T (p.Ser3164Cys)
c.9361A>T (p.Ser3121Cys)
c.9352A>T (p.Ser3118Cys)
c.8848A>T (p.Ser2950Cys)
c.8779A>T (p.Ser2927Cys)
c.3565A>T (p.Ser1189Cys)
c.9415A>T (p.Ser3139Cys)
c.9295A>T (p.Ser3099Cys)
c.9226A>T (p.Ser3076Cys)
c.7630A>T (p.Ser2544Cys)
n.9766A>T
6g.51748126T>CCA364420948PKHD1c.9490A>G (p.Ser3164Gly)
c.9361A>G (p.Ser3121Gly)
c.9352A>G (p.Ser3118Gly)
c.8848A>G (p.Ser2950Gly)
c.8779A>G (p.Ser2927Gly)
c.3565A>G (p.Ser1189Gly)
c.9415A>G (p.Ser3139Gly)
c.9295A>G (p.Ser3099Gly)
c.9226A>G (p.Ser3076Gly)
c.7630A>G (p.Ser2544Gly)
n.9766A>G
6g.51748126T>GCA364420949PKHD1c.9490A>C (p.Ser3164Arg)
c.9361A>C (p.Ser3121Arg)
c.9352A>C (p.Ser3118Arg)
c.8848A>C (p.Ser2950Arg)
c.8779A>C (p.Ser2927Arg)
c.3565A>C (p.Ser1189Arg)
c.9415A>C (p.Ser3139Arg)
c.9295A>C (p.Ser3099Arg)
c.9226A>C (p.Ser3076Arg)
c.7630A>C (p.Ser2544Arg)
n.9766A>C
6g.51748127G>ACA450613478PKHD1c.9489C>T (p.Asn3163=)
c.9360C>T (p.Asn3120=)
c.9351C>T (p.Asn3117=)
c.8847C>T (p.Asn2949=)
c.8778C>T (p.Asn2926=)
c.3564C>T (p.Asn1188=)
c.9414C>T (p.Asn3138=)
c.9294C>T (p.Asn3098=)
c.9225C>T (p.Asn3075=)
c.7629C>T (p.Asn2543=)
n.9765C>T
6g.51748127G>CCA364420950PKHD1c.9489C>G (p.Asn3163Lys)
c.9360C>G (p.Asn3120Lys)
c.9351C>G (p.Asn3117Lys)
c.8847C>G (p.Asn2949Lys)
c.8778C>G (p.Asn2926Lys)
c.3564C>G (p.Asn1188Lys)
c.9414C>G (p.Asn3138Lys)
c.9294C>G (p.Asn3098Lys)
c.9225C>G (p.Asn3075Lys)
c.7629C>G (p.Asn2543Lys)
n.9765C>G
6g.51748127G>TCA364420951PKHD1c.9489C>A (p.Asn3163Lys)
c.9360C>A (p.Asn3120Lys)
c.9351C>A (p.Asn3117Lys)
c.8847C>A (p.Asn2949Lys)
c.8778C>A (p.Asn2926Lys)
c.3564C>A (p.Asn1188Lys)
c.9414C>A (p.Asn3138Lys)
c.9294C>A (p.Asn3098Lys)
c.9225C>A (p.Asn3075Lys)
c.7629C>A (p.Asn2543Lys)
n.9765C>A
 COSMIC COSMIC
6g.51748128T>ACA364420952PKHD1c.9488A>T (p.Asn3163Ile)
c.9359A>T (p.Asn3120Ile)
c.9350A>T (p.Asn3117Ile)
c.8846A>T (p.Asn2949Ile)
c.8777A>T (p.Asn2926Ile)
c.3563A>T (p.Asn1188Ile)
c.9413A>T (p.Asn3138Ile)
c.9293A>T (p.Asn3098Ile)
c.9224A>T (p.Asn3075Ile)
c.7628A>T (p.Asn2543Ile)
n.9764A>T
6g.51748128T>CCA364420954PKHD1c.9488A>G (p.Asn3163Ser)
c.9359A>G (p.Asn3120Ser)
c.9350A>G (p.Asn3117Ser)
c.8846A>G (p.Asn2949Ser)
c.8777A>G (p.Asn2926Ser)
c.3563A>G (p.Asn1188Ser)
c.9413A>G (p.Asn3138Ser)
c.9293A>G (p.Asn3098Ser)
c.9224A>G (p.Asn3075Ser)
c.7628A>G (p.Asn2543Ser)
n.9764A>G
6g.51748128T>GCA364420953PKHD1c.9488A>C (p.Asn3163Thr)
c.9359A>C (p.Asn3120Thr)
c.9350A>C (p.Asn3117Thr)
c.8846A>C (p.Asn2949Thr)
c.8777A>C (p.Asn2926Thr)
c.3563A>C (p.Asn1188Thr)
c.9413A>C (p.Asn3138Thr)
c.9293A>C (p.Asn3098Thr)
c.9224A>C (p.Asn3075Thr)
c.7628A>C (p.Asn2543Thr)
n.9764A>C
6g.51748129T>ACA138896163PKHD1c.9487A>T (p.Asn3163Tyr)
c.9358A>T (p.Asn3120Tyr)
c.9349A>T (p.Asn3117Tyr)
c.8845A>T (p.Asn2949Tyr)
c.8776A>T (p.Asn2926Tyr)
c.3562A>T (p.Asn1188Tyr)
c.9412A>T (p.Asn3138Tyr)
c.9292A>T (p.Asn3098Tyr)
c.9223A>T (p.Asn3075Tyr)
c.7627A>T (p.Asn2543Tyr)
n.9763A>T
 dbSNP gnomAD v3 gnomAD v4
6g.51748129T>CCA364420955PKHD1c.9487A>G (p.Asn3163Asp)
c.9358A>G (p.Asn3120Asp)
c.9349A>G (p.Asn3117Asp)
c.8845A>G (p.Asn2949Asp)
c.8776A>G (p.Asn2926Asp)
c.3562A>G (p.Asn1188Asp)
c.9412A>G (p.Asn3138Asp)
c.9292A>G (p.Asn3098Asp)
c.9223A>G (p.Asn3075Asp)
c.7627A>G (p.Asn2543Asp)
n.9763A>G
6g.51748129T>GCA364420956PKHD1c.9487A>C (p.Asn3163His)
c.9358A>C (p.Asn3120His)
c.9349A>C (p.Asn3117His)
c.8845A>C (p.Asn2949His)
c.8776A>C (p.Asn2926His)
c.3562A>C (p.Asn1188His)
c.9412A>C (p.Asn3138His)
c.9292A>C (p.Asn3098His)
c.9223A>C (p.Asn3075His)
c.7627A>C (p.Asn2543His)
n.9763A>C
6g.51748129T=CA1628502583PKHD1c.9487A= (p.Asn3163=)
c.9358A= (p.Asn3120=)
c.9349A= (p.Asn3117=)
c.8845A= (p.Asn2949=)
c.8776A= (p.Asn2926=)
c.3562A= (p.Asn1188=)
c.9412A= (p.Asn3138=)
c.9292A= (p.Asn3098=)
c.9223A= (p.Asn3075=)
c.7627A= (p.Asn2543=)
n.9763A=
6g.51748130C>ACA364420957PKHD1c.9486G>T (p.Glu3162Asp)
c.9357G>T (p.Glu3119Asp)
c.9348G>T (p.Glu3116Asp)
c.8844G>T (p.Glu2948Asp)
c.8775G>T (p.Glu2925Asp)
c.3561G>T (p.Glu1187Asp)
c.9411G>T (p.Glu3137Asp)
c.9291G>T (p.Glu3097Asp)
c.9222G>T (p.Glu3074Asp)
c.7626G>T (p.Glu2542Asp)
n.9762G>T
 COSMIC COSMIC
6g.51748130C>GCA364420958PKHD1c.9486G>C (p.Glu3162Asp)
c.9357G>C (p.Glu3119Asp)
c.9348G>C (p.Glu3116Asp)
c.8844G>C (p.Glu2948Asp)
c.8775G>C (p.Glu2925Asp)
c.3561G>C (p.Glu1187Asp)
c.9411G>C (p.Glu3137Asp)
c.9291G>C (p.Glu3097Asp)
c.9222G>C (p.Glu3074Asp)
c.7626G>C (p.Glu2542Asp)
n.9762G>C
6g.51748130C>TCA450613480PKHD1c.9486G>A (p.Glu3162=)
c.9357G>A (p.Glu3119=)
c.9348G>A (p.Glu3116=)
c.8844G>A (p.Glu2948=)
c.8775G>A (p.Glu2925=)
c.3561G>A (p.Glu1187=)
c.9411G>A (p.Glu3137=)
c.9291G>A (p.Glu3097=)
c.9222G>A (p.Glu3074=)
c.7626G>A (p.Glu2542=)
n.9762G>A
6g.51748131T>ACA364420959PKHD1c.9485A>T (p.Glu3162Val)
c.9356A>T (p.Glu3119Val)
c.9347A>T (p.Glu3116Val)
c.8843A>T (p.Glu2948Val)
c.8774A>T (p.Glu2925Val)
c.3560A>T (p.Glu1187Val)
c.9410A>T (p.Glu3137Val)
c.9290A>T (p.Glu3097Val)
c.9221A>T (p.Glu3074Val)
c.7625A>T (p.Glu2542Val)
n.9761A>T
6g.51748131T>CCA138896165PKHD1c.9485A>G (p.Glu3162Gly)
c.9356A>G (p.Glu3119Gly)
c.9347A>G (p.Glu3116Gly)
c.8843A>G (p.Glu2948Gly)
c.8774A>G (p.Glu2925Gly)
c.3560A>G (p.Glu1187Gly)
c.9410A>G (p.Glu3137Gly)
c.9290A>G (p.Glu3097Gly)
c.9221A>G (p.Glu3074Gly)
c.7625A>G (p.Glu2542Gly)
n.9761A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748131T>GCA364420960PKHD1c.9485A>C (p.Glu3162Ala)
c.9356A>C (p.Glu3119Ala)
c.9347A>C (p.Glu3116Ala)
c.8843A>C (p.Glu2948Ala)
c.8774A>C (p.Glu2925Ala)
c.3560A>C (p.Glu1187Ala)
c.9410A>C (p.Glu3137Ala)
c.9290A>C (p.Glu3097Ala)
c.9221A>C (p.Glu3074Ala)
c.7625A>C (p.Glu2542Ala)
n.9761A>C
6g.51748131T=CA1628502587PKHD1c.9485A= (p.Glu3162=)
c.9356A= (p.Glu3119=)
c.9347A= (p.Glu3116=)
c.8843A= (p.Glu2948=)
c.8774A= (p.Glu2925=)
c.3560A= (p.Glu1187=)
c.9410A= (p.Glu3137=)
c.9290A= (p.Glu3097=)
c.9221A= (p.Glu3074=)
c.7625A= (p.Glu2542=)
n.9761A=
6g.51748132C>ACA364420961PKHD1c.9484G>T (p.Glu3162Ter)
c.9355G>T (p.Glu3119Ter)
c.9346G>T (p.Glu3116Ter)
c.8842G>T (p.Glu2948Ter)
c.8773G>T (p.Glu2925Ter)
c.3559G>T (p.Glu1187Ter)
c.9409G>T (p.Glu3137Ter)
c.9289G>T (p.Glu3097Ter)
c.9220G>T (p.Glu3074Ter)
c.7624G>T (p.Glu2542Ter)
n.9760G>T
6g.51748132C>GCA364420962PKHD1c.9484G>C (p.Glu3162Gln)
c.9355G>C (p.Glu3119Gln)
c.9346G>C (p.Glu3116Gln)
c.8842G>C (p.Glu2948Gln)
c.8773G>C (p.Glu2925Gln)
c.3559G>C (p.Glu1187Gln)
c.9409G>C (p.Glu3137Gln)
c.9289G>C (p.Glu3097Gln)
c.9220G>C (p.Glu3074Gln)
c.7624G>C (p.Glu2542Gln)
n.9760G>C
6g.51748132C>TCA364420963PKHD1c.9484G>A (p.Glu3162Lys)
c.9355G>A (p.Glu3119Lys)
c.9346G>A (p.Glu3116Lys)
c.8842G>A (p.Glu2948Lys)
c.8773G>A (p.Glu2925Lys)
c.3559G>A (p.Glu1187Lys)
c.9409G>A (p.Glu3137Lys)
c.9289G>A (p.Glu3097Lys)
c.9220G>A (p.Glu3074Lys)
c.7624G>A (p.Glu2542Lys)
n.9760G>A
6g.51748133T>ACA450613484PKHD1c.9483A>T (p.Val3161=)
c.9354A>T (p.Val3118=)
c.9345A>T (p.Val3115=)
c.8841A>T (p.Val2947=)
c.8772A>T (p.Val2924=)
c.3558A>T (p.Val1186=)
c.9408A>T (p.Val3136=)
c.9288A>T (p.Val3096=)
c.9219A>T (p.Val3073=)
c.7623A>T (p.Val2541=)
n.9759A>T
6g.51748133T>CCA450613485PKHD1c.9483A>G (p.Val3161=)
c.9354A>G (p.Val3118=)
c.9345A>G (p.Val3115=)
c.8841A>G (p.Val2947=)
c.8772A>G (p.Val2924=)
c.3558A>G (p.Val1186=)
c.9408A>G (p.Val3136=)
c.9288A>G (p.Val3096=)
c.9219A>G (p.Val3073=)
c.7623A>G (p.Val2541=)
n.9759A>G
6g.51748133T>GCA450613486PKHD1c.9483A>C (p.Val3161=)
c.9354A>C (p.Val3118=)
c.9345A>C (p.Val3115=)
c.8841A>C (p.Val2947=)
c.8772A>C (p.Val2924=)
c.3558A>C (p.Val1186=)
c.9408A>C (p.Val3136=)
c.9288A>C (p.Val3096=)
c.9219A>C (p.Val3073=)
c.7623A>C (p.Val2541=)
n.9759A>C
6g.51748134A=CA1628502590PKHD1c.9482T= (p.Val3161=)
c.9353T= (p.Val3118=)
c.9344T= (p.Val3115=)
c.8840T= (p.Val2947=)
c.8771T= (p.Val2924=)
c.3557T= (p.Val1186=)
c.9407T= (p.Val3136=)
c.9287T= (p.Val3096=)
c.9218T= (p.Val3073=)
c.7622T= (p.Val2541=)
n.9758T=
6g.51748134A>CCA364420966PKHD1c.9482T>G (p.Val3161Gly)
c.9353T>G (p.Val3118Gly)
c.9344T>G (p.Val3115Gly)
c.8840T>G (p.Val2947Gly)
c.8771T>G (p.Val2924Gly)
c.3557T>G (p.Val1186Gly)
c.9407T>G (p.Val3136Gly)
c.9287T>G (p.Val3096Gly)
c.9218T>G (p.Val3073Gly)
c.7622T>G (p.Val2541Gly)
n.9758T>G
6g.51748134A>GCA364420965PKHD1c.9482T>C (p.Val3161Ala)
c.9353T>C (p.Val3118Ala)
c.9344T>C (p.Val3115Ala)
c.8840T>C (p.Val2947Ala)
c.8771T>C (p.Val2924Ala)
c.3557T>C (p.Val1186Ala)
c.9407T>C (p.Val3136Ala)
c.9287T>C (p.Val3096Ala)
c.9218T>C (p.Val3073Ala)
c.7622T>C (p.Val2541Ala)
n.9758T>C
 dbSNP
6g.51748134A>TCA364420964PKHD1c.9482T>A (p.Val3161Glu)
c.9353T>A (p.Val3118Glu)
c.9344T>A (p.Val3115Glu)
c.8840T>A (p.Val2947Glu)
c.8771T>A (p.Val2924Glu)
c.3557T>A (p.Val1186Glu)
c.9407T>A (p.Val3136Glu)
c.9287T>A (p.Val3096Glu)
c.9218T>A (p.Val3073Glu)
c.7622T>A (p.Val2541Glu)
n.9758T>A
6g.51748139_51748145delCA2679078633PKHD1c.9476_9482del (p.Leu3159Ter)
c.9347_9353del (p.Leu3116Ter)
c.9338_9344del (p.Leu3113Ter)
c.8834_8840del (p.Leu2945Ter)
c.8765_8771del (p.Leu2922Ter)
c.3551_3557del (p.Leu1184Ter)
c.9401_9407del (p.Leu3134Ter)
c.9281_9287del (p.Leu3094Ter)
c.9212_9218del (p.Leu3071Ter)
c.7616_7622del (p.Leu2539Ter)
n.9752_9758del
 gnomAD v4
6g.51748135C>ACA364420967PKHD1c.9481G>T (p.Val3161Leu)
c.9352G>T (p.Val3118Leu)
c.9343G>T (p.Val3115Leu)
c.8839G>T (p.Val2947Leu)
c.8770G>T (p.Val2924Leu)
c.3556G>T (p.Val1186Leu)
c.9406G>T (p.Val3136Leu)
c.9286G>T (p.Val3096Leu)
c.9217G>T (p.Val3073Leu)
c.7621G>T (p.Val2541Leu)
n.9757G>T
6g.51748135C>GCA364420968PKHD1c.9481G>C (p.Val3161Leu)
c.9352G>C (p.Val3118Leu)
c.9343G>C (p.Val3115Leu)
c.8839G>C (p.Val2947Leu)
c.8770G>C (p.Val2924Leu)
c.3556G>C (p.Val1186Leu)
c.9406G>C (p.Val3136Leu)
c.9286G>C (p.Val3096Leu)
c.9217G>C (p.Val3073Leu)
c.7621G>C (p.Val2541Leu)
n.9757G>C
6g.51748135C>TCA364420969PKHD1c.9481G>A (p.Val3161Ile)
c.9352G>A (p.Val3118Ile)
c.9343G>A (p.Val3115Ile)
c.8839G>A (p.Val2947Ile)
c.8770G>A (p.Val2924Ile)
c.3556G>A (p.Val1186Ile)
c.9406G>A (p.Val3136Ile)
c.9286G>A (p.Val3096Ile)
c.9217G>A (p.Val3073Ile)
c.7621G>A (p.Val2541Ile)
n.9757G>A
6g.51748136A>CCA364420970PKHD1c.9480T>G (p.His3160Gln)
c.9351T>G (p.His3117Gln)
c.9342T>G (p.His3114Gln)
c.8838T>G (p.His2946Gln)
c.8769T>G (p.His2923Gln)
c.3555T>G (p.His1185Gln)
c.9405T>G (p.His3135Gln)
c.9285T>G (p.His3095Gln)
c.9216T>G (p.His3072Gln)
c.7620T>G (p.His2540Gln)
n.9756T>G
 gnomAD v4
6g.51748136A>GCA450613491PKHD1c.9480T>C (p.His3160=)
c.9351T>C (p.His3117=)
c.9342T>C (p.His3114=)
c.8838T>C (p.His2946=)
c.8769T>C (p.His2923=)
c.3555T>C (p.His1185=)
c.9405T>C (p.His3135=)
c.9285T>C (p.His3095=)
c.9216T>C (p.His3072=)
c.7620T>C (p.His2540=)
n.9756T>C
 COSMIC COSMIC
6g.51748136A>TCA364420971PKHD1c.9480T>A (p.His3160Gln)
c.9351T>A (p.His3117Gln)
c.9342T>A (p.His3114Gln)
c.8838T>A (p.His2946Gln)
c.8769T>A (p.His2923Gln)
c.3555T>A (p.His1185Gln)
c.9405T>A (p.His3135Gln)
c.9285T>A (p.His3095Gln)
c.9216T>A (p.His3072Gln)
c.7620T>A (p.His2540Gln)
n.9756T>A
6g.51748137T>ACA3851384PKHD1c.9479A>T (p.His3160Leu)
c.9350A>T (p.His3117Leu)
c.9341A>T (p.His3114Leu)
c.8837A>T (p.His2946Leu)
c.8768A>T (p.His2923Leu)
c.3554A>T (p.His1185Leu)
c.9404A>T (p.His3135Leu)
c.9284A>T (p.His3095Leu)
c.9215A>T (p.His3072Leu)
c.7619A>T (p.His2540Leu)
n.9755A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748137T>CCA138896168PKHD1c.9479A>G (p.His3160Arg)
c.9350A>G (p.His3117Arg)
c.9341A>G (p.His3114Arg)
c.8837A>G (p.His2946Arg)
c.8768A>G (p.His2923Arg)
c.3554A>G (p.His1185Arg)
c.9404A>G (p.His3135Arg)
c.9284A>G (p.His3095Arg)
c.9215A>G (p.His3072Arg)
c.7619A>G (p.His2540Arg)
n.9755A>G
 dbSNP
6g.51748137T>GCA364420972PKHD1c.9479A>C (p.His3160Pro)
c.9350A>C (p.His3117Pro)
c.9341A>C (p.His3114Pro)
c.8837A>C (p.His2946Pro)
c.8768A>C (p.His2923Pro)
c.3554A>C (p.His1185Pro)
c.9404A>C (p.His3135Pro)
c.9284A>C (p.His3095Pro)
c.9215A>C (p.His3072Pro)
c.7619A>C (p.His2540Pro)
n.9755A>C
6g.51748137T=CA1628502593PKHD1c.9479A= (p.His3160=)
c.9350A= (p.His3117=)
c.9341A= (p.His3114=)
c.8837A= (p.His2946=)
c.8768A= (p.His2923=)
c.3554A= (p.His1185=)
c.9404A= (p.His3135=)
c.9284A= (p.His3095=)
c.9215A= (p.His3072=)
c.7619A= (p.His2540=)
n.9755A=
6g.51748138G>ACA3851385PKHD1c.9478C>T (p.His3160Tyr)
c.9349C>T (p.His3117Tyr)
c.9340C>T (p.His3114Tyr)
c.8836C>T (p.His2946Tyr)
c.8767C>T (p.His2923Tyr)
c.3553C>T (p.His1185Tyr)
c.9403C>T (p.His3135Tyr)
c.9283C>T (p.His3095Tyr)
c.9214C>T (p.His3072Tyr)
c.7618C>T (p.His2540Tyr)
n.9754C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748138G>CCA364420973PKHD1c.9478C>G (p.His3160Asp)
c.9349C>G (p.His3117Asp)
c.9340C>G (p.His3114Asp)
c.8836C>G (p.His2946Asp)
c.8767C>G (p.His2923Asp)
c.3553C>G (p.His1185Asp)
c.9403C>G (p.His3135Asp)
c.9283C>G (p.His3095Asp)
c.9214C>G (p.His3072Asp)
c.7618C>G (p.His2540Asp)
n.9754C>G
6g.51748138G=CA1628502600PKHD1c.9478C= (p.His3160=)
c.9349C= (p.His3117=)
c.9340C= (p.His3114=)
c.8836C= (p.His2946=)
c.8767C= (p.His2923=)
c.3553C= (p.His1185=)
c.9403C= (p.His3135=)
c.9283C= (p.His3095=)
c.9214C= (p.His3072=)
c.7618C= (p.His2540=)
n.9754C=
6g.51748138G>TCA364420974PKHD1c.9478C>A (p.His3160Asn)
c.9349C>A (p.His3117Asn)
c.9340C>A (p.His3114Asn)
c.8836C>A (p.His2946Asn)
c.8767C>A (p.His2923Asn)
c.3553C>A (p.His1185Asn)
c.9403C>A (p.His3135Asn)
c.9283C>A (p.His3095Asn)
c.9214C>A (p.His3072Asn)
c.7618C>A (p.His2540Asn)
n.9754C>A
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

Number of alleles fetched