Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51748464A=CA1628503490PKHD1c.9152T= (p.Ile3051=)
c.9023T= (p.Ile3008=)
c.9014T= (p.Ile3005=)
c.8510T= (p.Ile2837=)
c.8441T= (p.Ile2814=)
c.3227T= (p.Ile1076=)
c.9077T= (p.Ile3026=)
c.8957T= (p.Ile2986=)
c.8888T= (p.Ile2963=)
c.7292T= (p.Ile2431=)
n.9428T=
6g.51748464A>CCA364423462PKHD1c.9152T>G (p.Ile3051Arg)
c.9023T>G (p.Ile3008Arg)
c.9014T>G (p.Ile3005Arg)
c.8510T>G (p.Ile2837Arg)
c.8441T>G (p.Ile2814Arg)
c.3227T>G (p.Ile1076Arg)
c.9077T>G (p.Ile3026Arg)
c.8957T>G (p.Ile2986Arg)
c.8888T>G (p.Ile2963Arg)
c.7292T>G (p.Ile2431Arg)
n.9428T>G
6g.51748464A>GCA364423467PKHD1c.9152T>C (p.Ile3051Thr)
c.9023T>C (p.Ile3008Thr)
c.9014T>C (p.Ile3005Thr)
c.8510T>C (p.Ile2837Thr)
c.8441T>C (p.Ile2814Thr)
c.3227T>C (p.Ile1076Thr)
c.9077T>C (p.Ile3026Thr)
c.8957T>C (p.Ile2986Thr)
c.8888T>C (p.Ile2963Thr)
c.7292T>C (p.Ile2431Thr)
n.9428T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748464A>TCA364423471PKHD1c.9152T>A (p.Ile3051Lys)
c.9023T>A (p.Ile3008Lys)
c.9014T>A (p.Ile3005Lys)
c.8510T>A (p.Ile2837Lys)
c.8441T>A (p.Ile2814Lys)
c.3227T>A (p.Ile1076Lys)
c.9077T>A (p.Ile3026Lys)
c.8957T>A (p.Ile2986Lys)
c.8888T>A (p.Ile2963Lys)
c.7292T>A (p.Ile2431Lys)
n.9428T>A
6g.51748465T>ACA364423472PKHD1c.9151A>T (p.Ile3051Leu)
c.9022A>T (p.Ile3008Leu)
c.9013A>T (p.Ile3005Leu)
c.8509A>T (p.Ile2837Leu)
c.8440A>T (p.Ile2814Leu)
c.3226A>T (p.Ile1076Leu)
c.9076A>T (p.Ile3026Leu)
c.8956A>T (p.Ile2986Leu)
c.8887A>T (p.Ile2963Leu)
c.7291A>T (p.Ile2431Leu)
n.9427A>T
6g.51748465T>CCA138896626PKHD1c.9151A>G (p.Ile3051Val)
c.9022A>G (p.Ile3008Val)
c.9013A>G (p.Ile3005Val)
c.8509A>G (p.Ile2837Val)
c.8440A>G (p.Ile2814Val)
c.3226A>G (p.Ile1076Val)
c.9076A>G (p.Ile3026Val)
c.8956A>G (p.Ile2986Val)
c.8887A>G (p.Ile2963Val)
c.7291A>G (p.Ile2431Val)
n.9427A>G
 dbSNP gnomAD v4
6g.51748465T>GCA364423478PKHD1c.9151A>C (p.Ile3051Leu)
c.9022A>C (p.Ile3008Leu)
c.9013A>C (p.Ile3005Leu)
c.8509A>C (p.Ile2837Leu)
c.8440A>C (p.Ile2814Leu)
c.3226A>C (p.Ile1076Leu)
c.9076A>C (p.Ile3026Leu)
c.8956A>C (p.Ile2986Leu)
c.8887A>C (p.Ile2963Leu)
c.7291A>C (p.Ile2431Leu)
n.9427A>C
 dbSNP gnomAD v3 gnomAD v4
6g.51748465T=CA1628503498PKHD1c.9151A= (p.Ile3051=)
c.9022A= (p.Ile3008=)
c.9013A= (p.Ile3005=)
c.8509A= (p.Ile2837=)
c.8440A= (p.Ile2814=)
c.3226A= (p.Ile1076=)
c.9076A= (p.Ile3026=)
c.8956A= (p.Ile2986=)
c.8887A= (p.Ile2963=)
c.7291A= (p.Ile2431=)
n.9427A=
6g.51748466G>ACA450613712PKHD1c.9150C>T (p.Gly3050=)
c.9021C>T (p.Gly3007=)
c.9012C>T (p.Gly3004=)
c.8508C>T (p.Gly2836=)
c.8439C>T (p.Gly2813=)
c.3225C>T (p.Gly1075=)
c.9075C>T (p.Gly3025=)
c.8955C>T (p.Gly2985=)
c.8886C>T (p.Gly2962=)
c.7290C>T (p.Gly2430=)
n.9426C>T
 gnomAD v4
6g.51748466G>CCA450613714PKHD1c.9150C>G (p.Gly3050=)
c.9021C>G (p.Gly3007=)
c.9012C>G (p.Gly3004=)
c.8508C>G (p.Gly2836=)
c.8439C>G (p.Gly2813=)
c.3225C>G (p.Gly1075=)
c.9075C>G (p.Gly3025=)
c.8955C>G (p.Gly2985=)
c.8886C>G (p.Gly2962=)
c.7290C>G (p.Gly2430=)
n.9426C>G
6g.51748466G>TCA450613716PKHD1c.9150C>A (p.Gly3050=)
c.9021C>A (p.Gly3007=)
c.9012C>A (p.Gly3004=)
c.8508C>A (p.Gly2836=)
c.8439C>A (p.Gly2813=)
c.3225C>A (p.Gly1075=)
c.9075C>A (p.Gly3025=)
c.8955C>A (p.Gly2985=)
c.8886C>A (p.Gly2962=)
c.7290C>A (p.Gly2430=)
n.9426C>A
6g.51748467C>ACA364423484PKHD1c.9149G>T (p.Gly3050Val)
c.9020G>T (p.Gly3007Val)
c.9011G>T (p.Gly3004Val)
c.8507G>T (p.Gly2836Val)
c.8438G>T (p.Gly2813Val)
c.3224G>T (p.Gly1075Val)
c.9074G>T (p.Gly3025Val)
c.8954G>T (p.Gly2985Val)
c.8885G>T (p.Gly2962Val)
c.7289G>T (p.Gly2430Val)
n.9425G>T
6g.51748467C>GCA364423494PKHD1c.9149G>C (p.Gly3050Ala)
c.9020G>C (p.Gly3007Ala)
c.9011G>C (p.Gly3004Ala)
c.8507G>C (p.Gly2836Ala)
c.8438G>C (p.Gly2813Ala)
c.3224G>C (p.Gly1075Ala)
c.9074G>C (p.Gly3025Ala)
c.8954G>C (p.Gly2985Ala)
c.8885G>C (p.Gly2962Ala)
c.7289G>C (p.Gly2430Ala)
n.9425G>C
6g.51748467C>TCA364423489PKHD1c.9149G>A (p.Gly3050Asp)
c.9020G>A (p.Gly3007Asp)
c.9011G>A (p.Gly3004Asp)
c.8507G>A (p.Gly2836Asp)
c.8438G>A (p.Gly2813Asp)
c.3224G>A (p.Gly1075Asp)
c.9074G>A (p.Gly3025Asp)
c.8954G>A (p.Gly2985Asp)
c.8885G>A (p.Gly2962Asp)
c.7289G>A (p.Gly2430Asp)
n.9425G>A
 gnomAD v4
6g.51748468delCA2499218343PKHD1c.9149del (p.Gly3050AlafsTer2)
c.9020del (p.Gly3007AlafsTer2)
c.9011del (p.Gly3004AlafsTer2)
c.8507del (p.Gly2836AlafsTer2)
c.8438del (p.Gly2813AlafsTer2)
c.3224del (p.Gly1075AlafsTer2)
c.9074del (p.Gly3025AlafsTer2)
c.8954del (p.Gly2985AlafsTer2)
c.8885del (p.Gly2962AlafsTer2)
c.7289del (p.Gly2430AlafsTer2)
n.9425del
 ClinVar dbSNP
6g.51748468C>ACA364423496PKHD1c.9148G>T (p.Gly3050Cys)
c.9019G>T (p.Gly3007Cys)
c.9010G>T (p.Gly3004Cys)
c.8506G>T (p.Gly2836Cys)
c.8437G>T (p.Gly2813Cys)
c.3223G>T (p.Gly1075Cys)
c.9073G>T (p.Gly3025Cys)
c.8953G>T (p.Gly2985Cys)
c.8884G>T (p.Gly2962Cys)
c.7288G>T (p.Gly2430Cys)
n.9424G>T
 ClinVar
6g.51748468C=CA1628503504PKHD1c.9148G= (p.Gly3050=)
c.9019G= (p.Gly3007=)
c.9010G= (p.Gly3004=)
c.8506G= (p.Gly2836=)
c.8437G= (p.Gly2813=)
c.3223G= (p.Gly1075=)
c.9073G= (p.Gly3025=)
c.8953G= (p.Gly2985=)
c.8884G= (p.Gly2962=)
c.7288G= (p.Gly2430=)
n.9424G=
6g.51748468C>GCA364423497PKHD1c.9148G>C (p.Gly3050Arg)
c.9019G>C (p.Gly3007Arg)
c.9010G>C (p.Gly3004Arg)
c.8506G>C (p.Gly2836Arg)
c.8437G>C (p.Gly2813Arg)
c.3223G>C (p.Gly1075Arg)
c.9073G>C (p.Gly3025Arg)
c.8953G>C (p.Gly2985Arg)
c.8884G>C (p.Gly2962Arg)
c.7288G>C (p.Gly2430Arg)
n.9424G>C
6g.51748468C>TCA364423502PKHD1c.9148G>A (p.Gly3050Ser)
c.9019G>A (p.Gly3007Ser)
c.9010G>A (p.Gly3004Ser)
c.8506G>A (p.Gly2836Ser)
c.8437G>A (p.Gly2813Ser)
c.3223G>A (p.Gly1075Ser)
c.9073G>A (p.Gly3025Ser)
c.8953G>A (p.Gly2985Ser)
c.8884G>A (p.Gly2962Ser)
c.7288G>A (p.Gly2430Ser)
n.9424G>A
 dbSNP gnomAD v4
6g.51748469A=CA1628503509PKHD1c.9147T= (p.His3049=)
c.9018T= (p.His3006=)
c.9009T= (p.His3003=)
c.8505T= (p.His2835=)
c.8436T= (p.His2812=)
c.3222T= (p.His1074=)
c.9072T= (p.His3024=)
c.8952T= (p.His2984=)
c.8883T= (p.His2961=)
c.7287T= (p.His2429=)
n.9423T=
6g.51748469A>CCA364423508PKHD1c.9147T>G (p.His3049Gln)
c.9018T>G (p.His3006Gln)
c.9009T>G (p.His3003Gln)
c.8505T>G (p.His2835Gln)
c.8436T>G (p.His2812Gln)
c.3222T>G (p.His1074Gln)
c.9072T>G (p.His3024Gln)
c.8952T>G (p.His2984Gln)
c.8883T>G (p.His2961Gln)
c.7287T>G (p.His2429Gln)
n.9423T>G
6g.51748469A>GCA450613725PKHD1c.9147T>C (p.His3049=)
c.9018T>C (p.His3006=)
c.9009T>C (p.His3003=)
c.8505T>C (p.His2835=)
c.8436T>C (p.His2812=)
c.3222T>C (p.His1074=)
c.9072T>C (p.His3024=)
c.8952T>C (p.His2984=)
c.8883T>C (p.His2961=)
c.7287T>C (p.His2429=)
n.9423T>C
 dbSNP
6g.51748469A>TCA364423512PKHD1c.9147T>A (p.His3049Gln)
c.9018T>A (p.His3006Gln)
c.9009T>A (p.His3003Gln)
c.8505T>A (p.His2835Gln)
c.8436T>A (p.His2812Gln)
c.3222T>A (p.His1074Gln)
c.9072T>A (p.His3024Gln)
c.8952T>A (p.His2984Gln)
c.8883T>A (p.His2961Gln)
c.7287T>A (p.His2429Gln)
n.9423T>A
6g.51748470T>ACA364423513PKHD1c.9146A>T (p.His3049Leu)
c.9017A>T (p.His3006Leu)
c.9008A>T (p.His3003Leu)
c.8504A>T (p.His2835Leu)
c.8435A>T (p.His2812Leu)
c.3221A>T (p.His1074Leu)
c.9071A>T (p.His3024Leu)
c.8951A>T (p.His2984Leu)
c.8882A>T (p.His2961Leu)
c.7286A>T (p.His2429Leu)
n.9422A>T
6g.51748470T>CCA3851440PKHD1c.9146A>G (p.His3049Arg)
c.9017A>G (p.His3006Arg)
c.9008A>G (p.His3003Arg)
c.8504A>G (p.His2835Arg)
c.8435A>G (p.His2812Arg)
c.3221A>G (p.His1074Arg)
c.9071A>G (p.His3024Arg)
c.8951A>G (p.His2984Arg)
c.8882A>G (p.His2961Arg)
c.7286A>G (p.His2429Arg)
n.9422A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.51748470T>GCA364423514PKHD1c.9146A>C (p.His3049Pro)
c.9017A>C (p.His3006Pro)
c.9008A>C (p.His3003Pro)
c.8504A>C (p.His2835Pro)
c.8435A>C (p.His2812Pro)
c.3221A>C (p.His1074Pro)
c.9071A>C (p.His3024Pro)
c.8951A>C (p.His2984Pro)
c.8882A>C (p.His2961Pro)
c.7286A>C (p.His2429Pro)
n.9422A>C
6g.51748470T=CA1628503519PKHD1c.9146A= (p.His3049=)
c.9017A= (p.His3006=)
c.9008A= (p.His3003=)
c.8504A= (p.His2835=)
c.8435A= (p.His2812=)
c.3221A= (p.His1074=)
c.9071A= (p.His3024=)
c.8951A= (p.His2984=)
c.8882A= (p.His2961=)
c.7286A= (p.His2429=)
n.9422A=
6g.51748471G>ACA364423515PKHD1c.9145C>T (p.His3049Tyr)
c.9016C>T (p.His3006Tyr)
c.9007C>T (p.His3003Tyr)
c.8503C>T (p.His2835Tyr)
c.8434C>T (p.His2812Tyr)
c.3220C>T (p.His1074Tyr)
c.9070C>T (p.His3024Tyr)
c.8950C>T (p.His2984Tyr)
c.8881C>T (p.His2961Tyr)
c.7285C>T (p.His2429Tyr)
n.9421C>T
 dbSNP
6g.51748471G>CCA364423517PKHD1c.9145C>G (p.His3049Asp)
c.9016C>G (p.His3006Asp)
c.9007C>G (p.His3003Asp)
c.8503C>G (p.His2835Asp)
c.8434C>G (p.His2812Asp)
c.3220C>G (p.His1074Asp)
c.9070C>G (p.His3024Asp)
c.8950C>G (p.His2984Asp)
c.8881C>G (p.His2961Asp)
c.7285C>G (p.His2429Asp)
n.9421C>G
6g.51748471G=CA1628503540PKHD1c.9145C= (p.His3049=)
c.9016C= (p.His3006=)
c.9007C= (p.His3003=)
c.8503C= (p.His2835=)
c.8434C= (p.His2812=)
c.3220C= (p.His1074=)
c.9070C= (p.His3024=)
c.8950C= (p.His2984=)
c.8881C= (p.His2961=)
c.7285C= (p.His2429=)
n.9421C=
6g.51748471G>TCA364423519PKHD1c.9145C>A (p.His3049Asn)
c.9016C>A (p.His3006Asn)
c.9007C>A (p.His3003Asn)
c.8503C>A (p.His2835Asn)
c.8434C>A (p.His2812Asn)
c.3220C>A (p.His1074Asn)
c.9070C>A (p.His3024Asn)
c.8950C>A (p.His2984Asn)
c.8881C>A (p.His2961Asn)
c.7285C>A (p.His2429Asn)
n.9421C>A
 gnomAD v4
6g.51748472G>ACA450613728PKHD1c.9144C>T (p.Gly3048=)
c.9015C>T (p.Gly3005=)
c.9006C>T (p.Gly3002=)
c.8502C>T (p.Gly2834=)
c.8433C>T (p.Gly2811=)
c.3219C>T (p.Gly1073=)
c.9069C>T (p.Gly3023=)
c.8949C>T (p.Gly2983=)
c.8880C>T (p.Gly2960=)
c.7284C>T (p.Gly2428=)
n.9420C>T
 dbSNP gnomAD v2 gnomAD v4
6g.51748472G>CCA3851441PKHD1c.9144C>G (p.Gly3048=)
c.9015C>G (p.Gly3005=)
c.9006C>G (p.Gly3002=)
c.8502C>G (p.Gly2834=)
c.8433C>G (p.Gly2811=)
c.3219C>G (p.Gly1073=)
c.9069C>G (p.Gly3023=)
c.8949C>G (p.Gly2983=)
c.8880C>G (p.Gly2960=)
c.7284C>G (p.Gly2428=)
n.9420C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748472G=CA1628503545PKHD1c.9144C= (p.Gly3048=)
c.9015C= (p.Gly3005=)
c.9006C= (p.Gly3002=)
c.8502C= (p.Gly2834=)
c.8433C= (p.Gly2811=)
c.3219C= (p.Gly1073=)
c.9069C= (p.Gly3023=)
c.8949C= (p.Gly2983=)
c.8880C= (p.Gly2960=)
c.7284C= (p.Gly2428=)
n.9420C=
6g.51748472G>TCA450613731PKHD1c.9144C>A (p.Gly3048=)
c.9015C>A (p.Gly3005=)
c.9006C>A (p.Gly3002=)
c.8502C>A (p.Gly2834=)
c.8433C>A (p.Gly2811=)
c.3219C>A (p.Gly1073=)
c.9069C>A (p.Gly3023=)
c.8949C>A (p.Gly2983=)
c.8880C>A (p.Gly2960=)
c.7284C>A (p.Gly2428=)
n.9420C>A
6g.51748473C>ACA364423523PKHD1c.9143G>T (p.Gly3048Val)
c.9014G>T (p.Gly3005Val)
c.9005G>T (p.Gly3002Val)
c.8501G>T (p.Gly2834Val)
c.8432G>T (p.Gly2811Val)
c.3218G>T (p.Gly1073Val)
c.9068G>T (p.Gly3023Val)
c.8948G>T (p.Gly2983Val)
c.8879G>T (p.Gly2960Val)
c.7283G>T (p.Gly2428Val)
n.9419G>T
6g.51748473C=CA1628503551PKHD1c.9143G= (p.Gly3048=)
c.9014G= (p.Gly3005=)
c.9005G= (p.Gly3002=)
c.8501G= (p.Gly2834=)
c.8432G= (p.Gly2811=)
c.3218G= (p.Gly1073=)
c.9068G= (p.Gly3023=)
c.8948G= (p.Gly2983=)
c.8879G= (p.Gly2960=)
c.7283G= (p.Gly2428=)
n.9419G=
6g.51748473C>GCA364423527PKHD1c.9143G>C (p.Gly3048Ala)
c.9014G>C (p.Gly3005Ala)
c.9005G>C (p.Gly3002Ala)
c.8501G>C (p.Gly2834Ala)
c.8432G>C (p.Gly2811Ala)
c.3218G>C (p.Gly1073Ala)
c.9068G>C (p.Gly3023Ala)
c.8948G>C (p.Gly2983Ala)
c.8879G>C (p.Gly2960Ala)
c.7283G>C (p.Gly2428Ala)
n.9419G>C
6g.51748473C>TCA364423524PKHD1c.9143G>A (p.Gly3048Asp)
c.9014G>A (p.Gly3005Asp)
c.9005G>A (p.Gly3002Asp)
c.8501G>A (p.Gly2834Asp)
c.8432G>A (p.Gly2811Asp)
c.3218G>A (p.Gly1073Asp)
c.9068G>A (p.Gly3023Asp)
c.8948G>A (p.Gly2983Asp)
c.8879G>A (p.Gly2960Asp)
c.7283G>A (p.Gly2428Asp)
n.9419G>A
 dbSNP gnomAD v3 gnomAD v4
6g.51748474C>ACA364423530PKHD1c.9142G>T (p.Gly3048Cys)
c.9013G>T (p.Gly3005Cys)
c.9004G>T (p.Gly3002Cys)
c.8500G>T (p.Gly2834Cys)
c.8431G>T (p.Gly2811Cys)
c.3217G>T (p.Gly1073Cys)
c.9067G>T (p.Gly3023Cys)
c.8947G>T (p.Gly2983Cys)
c.8878G>T (p.Gly2960Cys)
c.7282G>T (p.Gly2428Cys)
n.9418G>T
6g.51748474C>GCA364423536PKHD1c.9142G>C (p.Gly3048Arg)
c.9013G>C (p.Gly3005Arg)
c.9004G>C (p.Gly3002Arg)
c.8500G>C (p.Gly2834Arg)
c.8431G>C (p.Gly2811Arg)
c.3217G>C (p.Gly1073Arg)
c.9067G>C (p.Gly3023Arg)
c.8947G>C (p.Gly2983Arg)
c.8878G>C (p.Gly2960Arg)
c.7282G>C (p.Gly2428Arg)
n.9418G>C
6g.51748474C>TCA364423539PKHD1c.9142G>A (p.Gly3048Ser)
c.9013G>A (p.Gly3005Ser)
c.9004G>A (p.Gly3002Ser)
c.8500G>A (p.Gly2834Ser)
c.8431G>A (p.Gly2811Ser)
c.3217G>A (p.Gly1073Ser)
c.9067G>A (p.Gly3023Ser)
c.8947G>A (p.Gly2983Ser)
c.8878G>A (p.Gly2960Ser)
c.7282G>A (p.Gly2428Ser)
n.9418G>A
6g.51748475A>CCA450613734PKHD1c.9141T>G (p.Ala3047=)
c.9012T>G (p.Ala3004=)
c.9003T>G (p.Ala3001=)
c.8499T>G (p.Ala2833=)
c.8430T>G (p.Ala2810=)
c.3216T>G (p.Ala1072=)
c.9066T>G (p.Ala3022=)
c.8946T>G (p.Ala2982=)
c.8877T>G (p.Ala2959=)
c.7281T>G (p.Ala2427=)
n.9417T>G
6g.51748475A>GCA450613735PKHD1c.9141T>C (p.Ala3047=)
c.9012T>C (p.Ala3004=)
c.9003T>C (p.Ala3001=)
c.8499T>C (p.Ala2833=)
c.8430T>C (p.Ala2810=)
c.3216T>C (p.Ala1072=)
c.9066T>C (p.Ala3022=)
c.8946T>C (p.Ala2982=)
c.8877T>C (p.Ala2959=)
c.7281T>C (p.Ala2427=)
n.9417T>C
 ClinVar dbSNP
6g.51748475A>TCA450613737PKHD1c.9141T>A (p.Ala3047=)
c.9012T>A (p.Ala3004=)
c.9003T>A (p.Ala3001=)
c.8499T>A (p.Ala2833=)
c.8430T>A (p.Ala2810=)
c.3216T>A (p.Ala1072=)
c.9066T>A (p.Ala3022=)
c.8946T>A (p.Ala2982=)
c.8877T>A (p.Ala2959=)
c.7281T>A (p.Ala2427=)
n.9417T>A
6g.51748476G>ACA364423546PKHD1c.9140C>T (p.Ala3047Val)
c.9011C>T (p.Ala3004Val)
c.9002C>T (p.Ala3001Val)
c.8498C>T (p.Ala2833Val)
c.8429C>T (p.Ala2810Val)
c.3215C>T (p.Ala1072Val)
c.9065C>T (p.Ala3022Val)
c.8945C>T (p.Ala2982Val)
c.8876C>T (p.Ala2959Val)
c.7280C>T (p.Ala2427Val)
n.9416C>T
6g.51748476G>CCA364423548PKHD1c.9140C>G (p.Ala3047Gly)
c.9011C>G (p.Ala3004Gly)
c.9002C>G (p.Ala3001Gly)
c.8498C>G (p.Ala2833Gly)
c.8429C>G (p.Ala2810Gly)
c.3215C>G (p.Ala1072Gly)
c.9065C>G (p.Ala3022Gly)
c.8945C>G (p.Ala2982Gly)
c.8876C>G (p.Ala2959Gly)
c.7280C>G (p.Ala2427Gly)
n.9416C>G
6g.51748476G>TCA364423551PKHD1c.9140C>A (p.Ala3047Asp)
c.9011C>A (p.Ala3004Asp)
c.9002C>A (p.Ala3001Asp)
c.8498C>A (p.Ala2833Asp)
c.8429C>A (p.Ala2810Asp)
c.3215C>A (p.Ala1072Asp)
c.9065C>A (p.Ala3022Asp)
c.8945C>A (p.Ala2982Asp)
c.8876C>A (p.Ala2959Asp)
c.7280C>A (p.Ala2427Asp)
n.9416C>A
6g.51748477C>ACA364423555PKHD1c.9139G>T (p.Ala3047Ser)
c.9010G>T (p.Ala3004Ser)
c.9001G>T (p.Ala3001Ser)
c.8497G>T (p.Ala2833Ser)
c.8428G>T (p.Ala2810Ser)
c.3214G>T (p.Ala1072Ser)
c.9064G>T (p.Ala3022Ser)
c.8944G>T (p.Ala2982Ser)
c.8875G>T (p.Ala2959Ser)
c.7279G>T (p.Ala2427Ser)
n.9415G>T
6g.51748477C=CA1628503557PKHD1c.9139G= (p.Ala3047=)
c.9010G= (p.Ala3004=)
c.9001G= (p.Ala3001=)
c.8497G= (p.Ala2833=)
c.8428G= (p.Ala2810=)
c.3214G= (p.Ala1072=)
c.9064G= (p.Ala3022=)
c.8944G= (p.Ala2982=)
c.8875G= (p.Ala2959=)
c.7279G= (p.Ala2427=)
n.9415G=
6g.51748477C>GCA364423558PKHD1c.9139G>C (p.Ala3047Pro)
c.9010G>C (p.Ala3004Pro)
c.9001G>C (p.Ala3001Pro)
c.8497G>C (p.Ala2833Pro)
c.8428G>C (p.Ala2810Pro)
c.3214G>C (p.Ala1072Pro)
c.9064G>C (p.Ala3022Pro)
c.8944G>C (p.Ala2982Pro)
c.8875G>C (p.Ala2959Pro)
c.7279G>C (p.Ala2427Pro)
n.9415G>C
6g.51748477C>TCA364423559PKHD1c.9139G>A (p.Ala3047Thr)
c.9010G>A (p.Ala3004Thr)
c.9001G>A (p.Ala3001Thr)
c.8497G>A (p.Ala2833Thr)
c.8428G>A (p.Ala2810Thr)
c.3214G>A (p.Ala1072Thr)
c.9064G>A (p.Ala3022Thr)
c.8944G>A (p.Ala2982Thr)
c.8875G>A (p.Ala2959Thr)
c.7279G>A (p.Ala2427Thr)
n.9415G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748478T>ACA450613743PKHD1c.9138A>T (p.Thr3046=)
c.9009A>T (p.Thr3003=)
c.9000A>T (p.Thr3000=)
c.8496A>T (p.Thr2832=)
c.8427A>T (p.Thr2809=)
c.3213A>T (p.Thr1071=)
c.9063A>T (p.Thr3021=)
c.8943A>T (p.Thr2981=)
c.8874A>T (p.Thr2958=)
c.7278A>T (p.Thr2426=)
n.9414A>T
6g.51748478T>CCA450613744PKHD1c.9138A>G (p.Thr3046=)
c.9009A>G (p.Thr3003=)
c.9000A>G (p.Thr3000=)
c.8496A>G (p.Thr2832=)
c.8427A>G (p.Thr2809=)
c.3213A>G (p.Thr1071=)
c.9063A>G (p.Thr3021=)
c.8943A>G (p.Thr2981=)
c.8874A>G (p.Thr2958=)
c.7278A>G (p.Thr2426=)
n.9414A>G
6g.51748478T>GCA450613746PKHD1c.9138A>C (p.Thr3046=)
c.9009A>C (p.Thr3003=)
c.9000A>C (p.Thr3000=)
c.8496A>C (p.Thr2832=)
c.8427A>C (p.Thr2809=)
c.3213A>C (p.Thr1071=)
c.9063A>C (p.Thr3021=)
c.8943A>C (p.Thr2981=)
c.8874A>C (p.Thr2958=)
c.7278A>C (p.Thr2426=)
n.9414A>C
6g.51748479G>ACA364423562PKHD1c.9137C>T (p.Thr3046Ile)
c.9008C>T (p.Thr3003Ile)
c.8999C>T (p.Thr3000Ile)
c.8495C>T (p.Thr2832Ile)
c.8426C>T (p.Thr2809Ile)
c.3212C>T (p.Thr1071Ile)
c.9062C>T (p.Thr3021Ile)
c.8942C>T (p.Thr2981Ile)
c.8873C>T (p.Thr2958Ile)
c.7277C>T (p.Thr2426Ile)
n.9413C>T
6g.51748479G>CCA364423564PKHD1c.9137C>G (p.Thr3046Arg)
c.9008C>G (p.Thr3003Arg)
c.8999C>G (p.Thr3000Arg)
c.8495C>G (p.Thr2832Arg)
c.8426C>G (p.Thr2809Arg)
c.3212C>G (p.Thr1071Arg)
c.9062C>G (p.Thr3021Arg)
c.8942C>G (p.Thr2981Arg)
c.8873C>G (p.Thr2958Arg)
c.7277C>G (p.Thr2426Arg)
n.9413C>G
6g.51748479G>TCA364423566PKHD1c.9137C>A (p.Thr3046Lys)
c.9008C>A (p.Thr3003Lys)
c.8999C>A (p.Thr3000Lys)
c.8495C>A (p.Thr2832Lys)
c.8426C>A (p.Thr2809Lys)
c.3212C>A (p.Thr1071Lys)
c.9062C>A (p.Thr3021Lys)
c.8942C>A (p.Thr2981Lys)
c.8873C>A (p.Thr2958Lys)
c.7277C>A (p.Thr2426Lys)
n.9413C>A
6g.51748480T>ACA364423575PKHD1c.9136A>T (p.Thr3046Ser)
c.9007A>T (p.Thr3003Ser)
c.8998A>T (p.Thr3000Ser)
c.8494A>T (p.Thr2832Ser)
c.8425A>T (p.Thr2809Ser)
c.3211A>T (p.Thr1071Ser)
c.9061A>T (p.Thr3021Ser)
c.8941A>T (p.Thr2981Ser)
c.8872A>T (p.Thr2958Ser)
c.7276A>T (p.Thr2426Ser)
n.9412A>T
6g.51748480T>CCA364423568PKHD1c.9136A>G (p.Thr3046Ala)
c.9007A>G (p.Thr3003Ala)
c.8998A>G (p.Thr3000Ala)
c.8494A>G (p.Thr2832Ala)
c.8425A>G (p.Thr2809Ala)
c.3211A>G (p.Thr1071Ala)
c.9061A>G (p.Thr3021Ala)
c.8941A>G (p.Thr2981Ala)
c.8872A>G (p.Thr2958Ala)
c.7276A>G (p.Thr2426Ala)
n.9412A>G
6g.51748480T>GCA364423573PKHD1c.9136A>C (p.Thr3046Pro)
c.9007A>C (p.Thr3003Pro)
c.8998A>C (p.Thr3000Pro)
c.8494A>C (p.Thr2832Pro)
c.8425A>C (p.Thr2809Pro)
c.3211A>C (p.Thr1071Pro)
c.9061A>C (p.Thr3021Pro)
c.8941A>C (p.Thr2981Pro)
c.8872A>C (p.Thr2958Pro)
c.7276A>C (p.Thr2426Pro)
n.9412A>C
6g.51748481G>ACA450613748PKHD1c.9135C>T (p.Gly3045=)
c.9006C>T (p.Gly3002=)
c.8997C>T (p.Gly2999=)
c.8493C>T (p.Gly2831=)
c.8424C>T (p.Gly2808=)
c.3210C>T (p.Gly1070=)
c.9060C>T (p.Gly3020=)
c.8940C>T (p.Gly2980=)
c.8871C>T (p.Gly2957=)
c.7275C>T (p.Gly2425=)
n.9411C>T
6g.51748481G>CCA450613749PKHD1c.9135C>G (p.Gly3045=)
c.9006C>G (p.Gly3002=)
c.8997C>G (p.Gly2999=)
c.8493C>G (p.Gly2831=)
c.8424C>G (p.Gly2808=)
c.3210C>G (p.Gly1070=)
c.9060C>G (p.Gly3020=)
c.8940C>G (p.Gly2980=)
c.8871C>G (p.Gly2957=)
c.7275C>G (p.Gly2425=)
n.9411C>G
6g.51748481G>TCA450613750PKHD1c.9135C>A (p.Gly3045=)
c.9006C>A (p.Gly3002=)
c.8997C>A (p.Gly2999=)
c.8493C>A (p.Gly2831=)
c.8424C>A (p.Gly2808=)
c.3210C>A (p.Gly1070=)
c.9060C>A (p.Gly3020=)
c.8940C>A (p.Gly2980=)
c.8871C>A (p.Gly2957=)
c.7275C>A (p.Gly2425=)
n.9411C>A
6g.51748482C>ACA364423579PKHD1c.9134G>T (p.Gly3045Val)
c.9005G>T (p.Gly3002Val)
c.8996G>T (p.Gly2999Val)
c.8492G>T (p.Gly2831Val)
c.8423G>T (p.Gly2808Val)
c.3209G>T (p.Gly1070Val)
c.9059G>T (p.Gly3020Val)
c.8939G>T (p.Gly2980Val)
c.8870G>T (p.Gly2957Val)
c.7274G>T (p.Gly2425Val)
n.9410G>T
6g.51748482C=CA1628503559PKHD1c.9134G= (p.Gly3045=)
c.9005G= (p.Gly3002=)
c.8996G= (p.Gly2999=)
c.8492G= (p.Gly2831=)
c.8423G= (p.Gly2808=)
c.3209G= (p.Gly1070=)
c.9059G= (p.Gly3020=)
c.8939G= (p.Gly2980=)
c.8870G= (p.Gly2957=)
c.7274G= (p.Gly2425=)
n.9410G=
6g.51748482C>GCA138896641PKHD1c.9134G>C (p.Gly3045Ala)
c.9005G>C (p.Gly3002Ala)
c.8996G>C (p.Gly2999Ala)
c.8492G>C (p.Gly2831Ala)
c.8423G>C (p.Gly2808Ala)
c.3209G>C (p.Gly1070Ala)
c.9059G>C (p.Gly3020Ala)
c.8939G>C (p.Gly2980Ala)
c.8870G>C (p.Gly2957Ala)
c.7274G>C (p.Gly2425Ala)
n.9410G>C
 dbSNP gnomAD v2 gnomAD v4
6g.51748482C>TCA364423584PKHD1c.9134G>A (p.Gly3045Asp)
c.9005G>A (p.Gly3002Asp)
c.8996G>A (p.Gly2999Asp)
c.8492G>A (p.Gly2831Asp)
c.8423G>A (p.Gly2808Asp)
c.3209G>A (p.Gly1070Asp)
c.9059G>A (p.Gly3020Asp)
c.8939G>A (p.Gly2980Asp)
c.8870G>A (p.Gly2957Asp)
c.7274G>A (p.Gly2425Asp)
n.9410G>A
 gnomAD v4 COSMIC COSMIC
6g.51748483C>ACA364423588PKHD1c.9133G>T (p.Gly3045Cys)
c.9004G>T (p.Gly3002Cys)
c.8995G>T (p.Gly2999Cys)
c.8491G>T (p.Gly2831Cys)
c.8422G>T (p.Gly2808Cys)
c.3208G>T (p.Gly1070Cys)
c.9058G>T (p.Gly3020Cys)
c.8938G>T (p.Gly2980Cys)
c.8869G>T (p.Gly2957Cys)
c.7273G>T (p.Gly2425Cys)
n.9409G>T
6g.51748483C>GCA364423593PKHD1c.9133G>C (p.Gly3045Arg)
c.9004G>C (p.Gly3002Arg)
c.8995G>C (p.Gly2999Arg)
c.8491G>C (p.Gly2831Arg)
c.8422G>C (p.Gly2808Arg)
c.3208G>C (p.Gly1070Arg)
c.9058G>C (p.Gly3020Arg)
c.8938G>C (p.Gly2980Arg)
c.8869G>C (p.Gly2957Arg)
c.7273G>C (p.Gly2425Arg)
n.9409G>C
6g.51748483C>TCA364423596PKHD1c.9133G>A (p.Gly3045Ser)
c.9004G>A (p.Gly3002Ser)
c.8995G>A (p.Gly2999Ser)
c.8491G>A (p.Gly2831Ser)
c.8422G>A (p.Gly2808Ser)
c.3208G>A (p.Gly1070Ser)
c.9058G>A (p.Gly3020Ser)
c.8938G>A (p.Gly2980Ser)
c.8869G>A (p.Gly2957Ser)
c.7273G>A (p.Gly2425Ser)
n.9409G>A
6g.51748484A>CCA364423598PKHD1c.9132T>G (p.Phe3044Leu)
c.9003T>G (p.Phe3001Leu)
c.8994T>G (p.Phe2998Leu)
c.8490T>G (p.Phe2830Leu)
c.8421T>G (p.Phe2807Leu)
c.3207T>G (p.Phe1069Leu)
c.9057T>G (p.Phe3019Leu)
c.8937T>G (p.Phe2979Leu)
c.8868T>G (p.Phe2956Leu)
c.7272T>G (p.Phe2424Leu)
n.9408T>G
6g.51748484A>GCA450613751PKHD1c.9132T>C (p.Phe3044=)
c.9003T>C (p.Phe3001=)
c.8994T>C (p.Phe2998=)
c.8490T>C (p.Phe2830=)
c.8421T>C (p.Phe2807=)
c.3207T>C (p.Phe1069=)
c.9057T>C (p.Phe3019=)
c.8937T>C (p.Phe2979=)
c.8868T>C (p.Phe2956=)
c.7272T>C (p.Phe2424=)
n.9408T>C
6g.51748484A>TCA364423602PKHD1c.9132T>A (p.Phe3044Leu)
c.9003T>A (p.Phe3001Leu)
c.8994T>A (p.Phe2998Leu)
c.8490T>A (p.Phe2830Leu)
c.8421T>A (p.Phe2807Leu)
c.3207T>A (p.Phe1069Leu)
c.9057T>A (p.Phe3019Leu)
c.8937T>A (p.Phe2979Leu)
c.8868T>A (p.Phe2956Leu)
c.7272T>A (p.Phe2424Leu)
n.9408T>A
6g.51748485A>CCA364423607PKHD1c.9131T>G (p.Phe3044Cys)
c.9002T>G (p.Phe3001Cys)
c.8993T>G (p.Phe2998Cys)
c.8489T>G (p.Phe2830Cys)
c.8420T>G (p.Phe2807Cys)
c.3206T>G (p.Phe1069Cys)
c.9056T>G (p.Phe3019Cys)
c.8936T>G (p.Phe2979Cys)
c.8867T>G (p.Phe2956Cys)
c.7271T>G (p.Phe2424Cys)
n.9407T>G
6g.51748485A>GCA364423608PKHD1c.9131T>C (p.Phe3044Ser)
c.9002T>C (p.Phe3001Ser)
c.8993T>C (p.Phe2998Ser)
c.8489T>C (p.Phe2830Ser)
c.8420T>C (p.Phe2807Ser)
c.3206T>C (p.Phe1069Ser)
c.9056T>C (p.Phe3019Ser)
c.8936T>C (p.Phe2979Ser)
c.8867T>C (p.Phe2956Ser)
c.7271T>C (p.Phe2424Ser)
n.9407T>C
6g.51748485A>TCA364423616PKHD1c.9131T>A (p.Phe3044Tyr)
c.9002T>A (p.Phe3001Tyr)
c.8993T>A (p.Phe2998Tyr)
c.8489T>A (p.Phe2830Tyr)
c.8420T>A (p.Phe2807Tyr)
c.3206T>A (p.Phe1069Tyr)
c.9056T>A (p.Phe3019Tyr)
c.8936T>A (p.Phe2979Tyr)
c.8867T>A (p.Phe2956Tyr)
c.7271T>A (p.Phe2424Tyr)
n.9407T>A
6g.51748486A>CCA364423632PKHD1c.9130T>G (p.Phe3044Val)
c.9001T>G (p.Phe3001Val)
c.8992T>G (p.Phe2998Val)
c.8488T>G (p.Phe2830Val)
c.8419T>G (p.Phe2807Val)
c.3205T>G (p.Phe1069Val)
c.9055T>G (p.Phe3019Val)
c.8935T>G (p.Phe2979Val)
c.8866T>G (p.Phe2956Val)
c.7270T>G (p.Phe2424Val)
n.9406T>G
6g.51748486A>GCA364423631PKHD1c.9130T>C (p.Phe3044Leu)
c.9001T>C (p.Phe3001Leu)
c.8992T>C (p.Phe2998Leu)
c.8488T>C (p.Phe2830Leu)
c.8419T>C (p.Phe2807Leu)
c.3205T>C (p.Phe1069Leu)
c.9055T>C (p.Phe3019Leu)
c.8935T>C (p.Phe2979Leu)
c.8866T>C (p.Phe2956Leu)
c.7270T>C (p.Phe2424Leu)
n.9406T>C
6g.51748486A>TCA364423620PKHD1c.9130T>A (p.Phe3044Ile)
c.9001T>A (p.Phe3001Ile)
c.8992T>A (p.Phe2998Ile)
c.8488T>A (p.Phe2830Ile)
c.8419T>A (p.Phe2807Ile)
c.3205T>A (p.Phe1069Ile)
c.9055T>A (p.Phe3019Ile)
c.8935T>A (p.Phe2979Ile)
c.8866T>A (p.Phe2956Ile)
c.7270T>A (p.Phe2424Ile)
n.9406T>A
6g.51748487C>ACA450613752PKHD1c.9129G>T (p.Val3043=)
c.9000G>T (p.Val3000=)
c.8991G>T (p.Val2997=)
c.8487G>T (p.Val2829=)
c.8418G>T (p.Val2806=)
c.3204G>T (p.Val1068=)
c.9054G>T (p.Val3018=)
c.8934G>T (p.Val2978=)
c.8865G>T (p.Val2955=)
c.7269G>T (p.Val2423=)
n.9405G>T
6g.51748487C>GCA450613753PKHD1c.9129G>C (p.Val3043=)
c.9000G>C (p.Val3000=)
c.8991G>C (p.Val2997=)
c.8487G>C (p.Val2829=)
c.8418G>C (p.Val2806=)
c.3204G>C (p.Val1068=)
c.9054G>C (p.Val3018=)
c.8934G>C (p.Val2978=)
c.8865G>C (p.Val2955=)
c.7269G>C (p.Val2423=)
n.9405G>C
6g.51748487C>TCA450613754PKHD1c.9129G>A (p.Val3043=)
c.9000G>A (p.Val3000=)
c.8991G>A (p.Val2997=)
c.8487G>A (p.Val2829=)
c.8418G>A (p.Val2806=)
c.3204G>A (p.Val1068=)
c.9054G>A (p.Val3018=)
c.8934G>A (p.Val2978=)
c.8865G>A (p.Val2955=)
c.7269G>A (p.Val2423=)
n.9405G>A
6g.51748488A>CCA364423638PKHD1c.9128T>G (p.Val3043Gly)
c.8999T>G (p.Val3000Gly)
c.8990T>G (p.Val2997Gly)
c.8486T>G (p.Val2829Gly)
c.8417T>G (p.Val2806Gly)
c.3203T>G (p.Val1068Gly)
c.9053T>G (p.Val3018Gly)
c.8933T>G (p.Val2978Gly)
c.8864T>G (p.Val2955Gly)
c.7268T>G (p.Val2423Gly)
n.9404T>G
6g.51748488A>GCA364423650PKHD1c.9128T>C (p.Val3043Ala)
c.8999T>C (p.Val3000Ala)
c.8990T>C (p.Val2997Ala)
c.8486T>C (p.Val2829Ala)
c.8417T>C (p.Val2806Ala)
c.3203T>C (p.Val1068Ala)
c.9053T>C (p.Val3018Ala)
c.8933T>C (p.Val2978Ala)
c.8864T>C (p.Val2955Ala)
c.7268T>C (p.Val2423Ala)
n.9404T>C
6g.51748488A>TCA364423647PKHD1c.9128T>A (p.Val3043Glu)
c.8999T>A (p.Val3000Glu)
c.8990T>A (p.Val2997Glu)
c.8486T>A (p.Val2829Glu)
c.8417T>A (p.Val2806Glu)
c.3203T>A (p.Val1068Glu)
c.9053T>A (p.Val3018Glu)
c.8933T>A (p.Val2978Glu)
c.8864T>A (p.Val2955Glu)
c.7268T>A (p.Val2423Glu)
n.9404T>A
6g.51748489C>ACA364423662PKHD1c.9127G>T (p.Val3043Leu)
c.8998G>T (p.Val3000Leu)
c.8989G>T (p.Val2997Leu)
c.8485G>T (p.Val2829Leu)
c.8416G>T (p.Val2806Leu)
c.3202G>T (p.Val1068Leu)
c.9052G>T (p.Val3018Leu)
c.8932G>T (p.Val2978Leu)
c.8863G>T (p.Val2955Leu)
c.7267G>T (p.Val2423Leu)
n.9403G>T
 COSMIC COSMIC
6g.51748489C=CA1628503561PKHD1c.9127G= (p.Val3043=)
c.8998G= (p.Val3000=)
c.8989G= (p.Val2997=)
c.8485G= (p.Val2829=)
c.8416G= (p.Val2806=)
c.3202G= (p.Val1068=)
c.9052G= (p.Val3018=)
c.8932G= (p.Val2978=)
c.8863G= (p.Val2955=)
c.7267G= (p.Val2423=)
n.9403G=
6g.51748489C>GCA3851442PKHD1c.9127G>C (p.Val3043Leu)
c.8998G>C (p.Val3000Leu)
c.8989G>C (p.Val2997Leu)
c.8485G>C (p.Val2829Leu)
c.8416G>C (p.Val2806Leu)
c.3202G>C (p.Val1068Leu)
c.9052G>C (p.Val3018Leu)
c.8932G>C (p.Val2978Leu)
c.8863G>C (p.Val2955Leu)
c.7267G>C (p.Val2423Leu)
n.9403G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748489C>TCA364423664PKHD1c.9127G>A (p.Val3043Met)
c.8998G>A (p.Val3000Met)
c.8989G>A (p.Val2997Met)
c.8485G>A (p.Val2829Met)
c.8416G>A (p.Val2806Met)
c.3202G>A (p.Val1068Met)
c.9052G>A (p.Val3018Met)
c.8932G>A (p.Val2978Met)
c.8863G>A (p.Val2955Met)
c.7267G>A (p.Val2423Met)
n.9403G>A
6g.51748490A>CCA364423667PKHD1c.9126T>G (p.Ile3042Met)
c.8997T>G (p.Ile2999Met)
c.8988T>G (p.Ile2996Met)
c.8484T>G (p.Ile2828Met)
c.8415T>G (p.Ile2805Met)
c.3201T>G (p.Ile1067Met)
c.9051T>G (p.Ile3017Met)
c.8931T>G (p.Ile2977Met)
c.8862T>G (p.Ile2954Met)
c.7266T>G (p.Ile2422Met)
n.9402T>G
6g.51748490A>GCA450613756PKHD1c.9126T>C (p.Ile3042=)
c.8997T>C (p.Ile2999=)
c.8988T>C (p.Ile2996=)
c.8484T>C (p.Ile2828=)
c.8415T>C (p.Ile2805=)
c.3201T>C (p.Ile1067=)
c.9051T>C (p.Ile3017=)
c.8931T>C (p.Ile2977=)
c.8862T>C (p.Ile2954=)
c.7266T>C (p.Ile2422=)
n.9402T>C
6g.51748490A>TCA450613757PKHD1c.9126T>A (p.Ile3042=)
c.8997T>A (p.Ile2999=)
c.8988T>A (p.Ile2996=)
c.8484T>A (p.Ile2828=)
c.8415T>A (p.Ile2805=)
c.3201T>A (p.Ile1067=)
c.9051T>A (p.Ile3017=)
c.8931T>A (p.Ile2977=)
c.8862T>A (p.Ile2954=)
c.7266T>A (p.Ile2422=)
n.9402T>A
6g.51748490_51748491insCCCAACACCA2771040208PKHD1c.9125_9126insGTGTTGGG (p.Ile3042MetfsTer13)
c.8996_8997insGTGTTGGG (p.Ile2999MetfsTer13)
c.8987_8988insGTGTTGGG (p.Ile2996MetfsTer13)
c.8483_8484insGTGTTGGG (p.Ile2828MetfsTer13)
c.8414_8415insGTGTTGGG (p.Ile2805MetfsTer13)
c.3200_3201insGTGTTGGG (p.Ile1067MetfsTer13)
c.9050_9051insGTGTTGGG (p.Ile3017MetfsTer13)
c.8930_8931insGTGTTGGG (p.Ile2977MetfsTer13)
c.8861_8862insGTGTTGGG (p.Ile2954MetfsTer13)
c.7265_7266insGTGTTGGG (p.Ile2422MetfsTer13)
n.9401_9402insGTGTTGGG
6g.51748491A=CA1628503569PKHD1c.9125T= (p.Ile3042=)
c.8996T= (p.Ile2999=)
c.8987T= (p.Ile2996=)
c.8483T= (p.Ile2828=)
c.8414T= (p.Ile2805=)
c.3200T= (p.Ile1067=)
c.9050T= (p.Ile3017=)
c.8930T= (p.Ile2977=)
c.8861T= (p.Ile2954=)
c.7265T= (p.Ile2422=)
n.9401T=
6g.51748491A>CCA364423668PKHD1c.9125T>G (p.Ile3042Ser)
c.8996T>G (p.Ile2999Ser)
c.8987T>G (p.Ile2996Ser)
c.8483T>G (p.Ile2828Ser)
c.8414T>G (p.Ile2805Ser)
c.3200T>G (p.Ile1067Ser)
c.9050T>G (p.Ile3017Ser)
c.8930T>G (p.Ile2977Ser)
c.8861T>G (p.Ile2954Ser)
c.7265T>G (p.Ile2422Ser)
n.9401T>G
6g.51748491A>GCA364423669PKHD1c.9125T>C (p.Ile3042Thr)
c.8996T>C (p.Ile2999Thr)
c.8987T>C (p.Ile2996Thr)
c.8483T>C (p.Ile2828Thr)
c.8414T>C (p.Ile2805Thr)
c.3200T>C (p.Ile1067Thr)
c.9050T>C (p.Ile3017Thr)
c.8930T>C (p.Ile2977Thr)
c.8861T>C (p.Ile2954Thr)
c.7265T>C (p.Ile2422Thr)
n.9401T>C
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51748491A>TCA364423670PKHD1c.9125T>A (p.Ile3042Asn)
c.8996T>A (p.Ile2999Asn)
c.8987T>A (p.Ile2996Asn)
c.8483T>A (p.Ile2828Asn)
c.8414T>A (p.Ile2805Asn)
c.3200T>A (p.Ile1067Asn)
c.9050T>A (p.Ile3017Asn)
c.8930T>A (p.Ile2977Asn)
c.8861T>A (p.Ile2954Asn)
c.7265T>A (p.Ile2422Asn)
n.9401T>A
6g.51748492T>ACA364423672PKHD1c.9124A>T (p.Ile3042Phe)
c.8995A>T (p.Ile2999Phe)
c.8986A>T (p.Ile2996Phe)
c.8482A>T (p.Ile2828Phe)
c.8413A>T (p.Ile2805Phe)
c.3199A>T (p.Ile1067Phe)
c.9049A>T (p.Ile3017Phe)
c.8929A>T (p.Ile2977Phe)
c.8860A>T (p.Ile2954Phe)
c.7264A>T (p.Ile2422Phe)
n.9400A>T
 gnomAD v4
6g.51748492T>CCA364423676PKHD1c.9124A>G (p.Ile3042Val)
c.8995A>G (p.Ile2999Val)
c.8986A>G (p.Ile2996Val)
c.8482A>G (p.Ile2828Val)
c.8413A>G (p.Ile2805Val)
c.3199A>G (p.Ile1067Val)
c.9049A>G (p.Ile3017Val)
c.8929A>G (p.Ile2977Val)
c.8860A>G (p.Ile2954Val)
c.7264A>G (p.Ile2422Val)
n.9400A>G
 COSMIC COSMIC
6g.51748492T>GCA364423678PKHD1c.9124A>C (p.Ile3042Leu)
c.8995A>C (p.Ile2999Leu)
c.8986A>C (p.Ile2996Leu)
c.8482A>C (p.Ile2828Leu)
c.8413A>C (p.Ile2805Leu)
c.3199A>C (p.Ile1067Leu)
c.9049A>C (p.Ile3017Leu)
c.8929A>C (p.Ile2977Leu)
c.8860A>C (p.Ile2954Leu)
c.7264A>C (p.Ile2422Leu)
n.9400A>C
6g.51748493A>CCA364423681PKHD1c.9123T>G (p.Asn3041Lys)
c.8994T>G (p.Asn2998Lys)
c.8985T>G (p.Asn2995Lys)
c.8481T>G (p.Asn2827Lys)
c.8412T>G (p.Asn2804Lys)
c.3198T>G (p.Asn1066Lys)
c.9048T>G (p.Asn3016Lys)
c.8928T>G (p.Asn2976Lys)
c.8859T>G (p.Asn2953Lys)
c.7263T>G (p.Asn2421Lys)
n.9399T>G
6g.51748493A>GCA450613761PKHD1c.9123T>C (p.Asn3041=)
c.8994T>C (p.Asn2998=)
c.8985T>C (p.Asn2995=)
c.8481T>C (p.Asn2827=)
c.8412T>C (p.Asn2804=)
c.3198T>C (p.Asn1066=)
c.9048T>C (p.Asn3016=)
c.8928T>C (p.Asn2976=)
c.8859T>C (p.Asn2953=)
c.7263T>C (p.Asn2421=)
n.9399T>C
6g.51748493A>TCA364423684PKHD1c.9123T>A (p.Asn3041Lys)
c.8994T>A (p.Asn2998Lys)
c.8985T>A (p.Asn2995Lys)
c.8481T>A (p.Asn2827Lys)
c.8412T>A (p.Asn2804Lys)
c.3198T>A (p.Asn1066Lys)
c.9048T>A (p.Asn3016Lys)
c.8928T>A (p.Asn2976Lys)
c.8859T>A (p.Asn2953Lys)
c.7263T>A (p.Asn2421Lys)
n.9399T>A
6g.51748494T>ACA364423691PKHD1c.9122A>T (p.Asn3041Ile)
c.8993A>T (p.Asn2998Ile)
c.8984A>T (p.Asn2995Ile)
c.8480A>T (p.Asn2827Ile)
c.8411A>T (p.Asn2804Ile)
c.3197A>T (p.Asn1066Ile)
c.9047A>T (p.Asn3016Ile)
c.8927A>T (p.Asn2976Ile)
c.8858A>T (p.Asn2953Ile)
c.7262A>T (p.Asn2421Ile)
n.9398A>T
6g.51748494T>CCA364423686PKHD1c.9122A>G (p.Asn3041Ser)
c.8993A>G (p.Asn2998Ser)
c.8984A>G (p.Asn2995Ser)
c.8480A>G (p.Asn2827Ser)
c.8411A>G (p.Asn2804Ser)
c.3197A>G (p.Asn1066Ser)
c.9047A>G (p.Asn3016Ser)
c.8927A>G (p.Asn2976Ser)
c.8858A>G (p.Asn2953Ser)
c.7262A>G (p.Asn2421Ser)
n.9398A>G
6g.51748494T>GCA364423689PKHD1c.9122A>C (p.Asn3041Thr)
c.8993A>C (p.Asn2998Thr)
c.8984A>C (p.Asn2995Thr)
c.8480A>C (p.Asn2827Thr)
c.8411A>C (p.Asn2804Thr)
c.3197A>C (p.Asn1066Thr)
c.9047A>C (p.Asn3016Thr)
c.8927A>C (p.Asn2976Thr)
c.8858A>C (p.Asn2953Thr)
c.7262A>C (p.Asn2421Thr)
n.9398A>C
6g.51748495T>ACA364423694PKHD1c.9121A>T (p.Asn3041Tyr)
c.8992A>T (p.Asn2998Tyr)
c.8983A>T (p.Asn2995Tyr)
c.8479A>T (p.Asn2827Tyr)
c.8410A>T (p.Asn2804Tyr)
c.3196A>T (p.Asn1066Tyr)
c.9046A>T (p.Asn3016Tyr)
c.8926A>T (p.Asn2976Tyr)
c.8857A>T (p.Asn2953Tyr)
c.7261A>T (p.Asn2421Tyr)
n.9397A>T
6g.51748495T>CCA364423695PKHD1c.9121A>G (p.Asn3041Asp)
c.8992A>G (p.Asn2998Asp)
c.8983A>G (p.Asn2995Asp)
c.8479A>G (p.Asn2827Asp)
c.8410A>G (p.Asn2804Asp)
c.3196A>G (p.Asn1066Asp)
c.9046A>G (p.Asn3016Asp)
c.8926A>G (p.Asn2976Asp)
c.8857A>G (p.Asn2953Asp)
c.7261A>G (p.Asn2421Asp)
n.9397A>G
6g.51748495T>GCA364423696PKHD1c.9121A>C (p.Asn3041His)
c.8992A>C (p.Asn2998His)
c.8983A>C (p.Asn2995His)
c.8479A>C (p.Asn2827His)
c.8410A>C (p.Asn2804His)
c.3196A>C (p.Asn1066His)
c.9046A>C (p.Asn3016His)
c.8926A>C (p.Asn2976His)
c.8857A>C (p.Asn2953His)
c.7261A>C (p.Asn2421His)
n.9397A>C
6g.51748496G>ACA3851443PKHD1c.9120C>T (p.Asp3040=)
c.8991C>T (p.Asp2997=)
c.8982C>T (p.Asp2994=)
c.8478C>T (p.Asp2826=)
c.8409C>T (p.Asp2803=)
c.3195C>T (p.Asp1065=)
c.9045C>T (p.Asp3015=)
c.8925C>T (p.Asp2975=)
c.8856C>T (p.Asp2952=)
c.7260C>T (p.Asp2420=)
n.9396C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748496G>CCA364423701PKHD1c.9120C>G (p.Asp3040Glu)
c.8991C>G (p.Asp2997Glu)
c.8982C>G (p.Asp2994Glu)
c.8478C>G (p.Asp2826Glu)
c.8409C>G (p.Asp2803Glu)
c.3195C>G (p.Asp1065Glu)
c.9045C>G (p.Asp3015Glu)
c.8925C>G (p.Asp2975Glu)
c.8856C>G (p.Asp2952Glu)
c.7260C>G (p.Asp2420Glu)
n.9396C>G
6g.51748496G=CA1628503573PKHD1c.9120C= (p.Asp3040=)
c.8991C= (p.Asp2997=)
c.8982C= (p.Asp2994=)
c.8478C= (p.Asp2826=)
c.8409C= (p.Asp2803=)
c.3195C= (p.Asp1065=)
c.9045C= (p.Asp3015=)
c.8925C= (p.Asp2975=)
c.8856C= (p.Asp2952=)
c.7260C= (p.Asp2420=)
n.9396C=
6g.51748496G>TCA364423705PKHD1c.9120C>A (p.Asp3040Glu)
c.8991C>A (p.Asp2997Glu)
c.8982C>A (p.Asp2994Glu)
c.8478C>A (p.Asp2826Glu)
c.8409C>A (p.Asp2803Glu)
c.3195C>A (p.Asp1065Glu)
c.9045C>A (p.Asp3015Glu)
c.8925C>A (p.Asp2975Glu)
c.8856C>A (p.Asp2952Glu)
c.7260C>A (p.Asp2420Glu)
n.9396C>A
 COSMIC
6g.51748497T>ACA364423709PKHD1c.9119A>T (p.Asp3040Val)
c.8990A>T (p.Asp2997Val)
c.8981A>T (p.Asp2994Val)
c.8477A>T (p.Asp2826Val)
c.8408A>T (p.Asp2803Val)
c.3194A>T (p.Asp1065Val)
c.9044A>T (p.Asp3015Val)
c.8924A>T (p.Asp2975Val)
c.8855A>T (p.Asp2952Val)
c.7259A>T (p.Asp2420Val)
n.9395A>T
6g.51748497T>CCA364423712PKHD1c.9119A>G (p.Asp3040Gly)
c.8990A>G (p.Asp2997Gly)
c.8981A>G (p.Asp2994Gly)
c.8477A>G (p.Asp2826Gly)
c.8408A>G (p.Asp2803Gly)
c.3194A>G (p.Asp1065Gly)
c.9044A>G (p.Asp3015Gly)
c.8924A>G (p.Asp2975Gly)
c.8855A>G (p.Asp2952Gly)
c.7259A>G (p.Asp2420Gly)
n.9395A>G
6g.51748497T>GCA364423716PKHD1c.9119A>C (p.Asp3040Ala)
c.8990A>C (p.Asp2997Ala)
c.8981A>C (p.Asp2994Ala)
c.8477A>C (p.Asp2826Ala)
c.8408A>C (p.Asp2803Ala)
c.3194A>C (p.Asp1065Ala)
c.9044A>C (p.Asp3015Ala)
c.8924A>C (p.Asp2975Ala)
c.8855A>C (p.Asp2952Ala)
c.7259A>C (p.Asp2420Ala)
n.9395A>C
6g.51748498C>ACA364423722PKHD1c.9118G>T (p.Asp3040Tyr)
c.8989G>T (p.Asp2997Tyr)
c.8980G>T (p.Asp2994Tyr)
c.8476G>T (p.Asp2826Tyr)
c.8407G>T (p.Asp2803Tyr)
c.3193G>T (p.Asp1065Tyr)
c.9043G>T (p.Asp3015Tyr)
c.8923G>T (p.Asp2975Tyr)
c.8854G>T (p.Asp2952Tyr)
c.7258G>T (p.Asp2420Tyr)
n.9394G>T
6g.51748498C>GCA364423725PKHD1c.9118G>C (p.Asp3040His)
c.8989G>C (p.Asp2997His)
c.8980G>C (p.Asp2994His)
c.8476G>C (p.Asp2826His)
c.8407G>C (p.Asp2803His)
c.3193G>C (p.Asp1065His)
c.9043G>C (p.Asp3015His)
c.8923G>C (p.Asp2975His)
c.8854G>C (p.Asp2952His)
c.7258G>C (p.Asp2420His)
n.9394G>C
6g.51748498C>TCA364423727PKHD1c.9118G>A (p.Asp3040Asn)
c.8989G>A (p.Asp2997Asn)
c.8980G>A (p.Asp2994Asn)
c.8476G>A (p.Asp2826Asn)
c.8407G>A (p.Asp2803Asn)
c.3193G>A (p.Asp1065Asn)
c.9043G>A (p.Asp3015Asn)
c.8923G>A (p.Asp2975Asn)
c.8854G>A (p.Asp2952Asn)
c.7258G>A (p.Asp2420Asn)
n.9394G>A
6g.51748499A>CCA364423728PKHD1c.9117T>G (p.Asn3039Lys)
c.8988T>G (p.Asn2996Lys)
c.8979T>G (p.Asn2993Lys)
c.8475T>G (p.Asn2825Lys)
c.8406T>G (p.Asn2802Lys)
c.3192T>G (p.Asn1064Lys)
c.9042T>G (p.Asn3014Lys)
c.8922T>G (p.Asn2974Lys)
c.8853T>G (p.Asn2951Lys)
c.7257T>G (p.Asn2419Lys)
n.9393T>G
6g.51748499A>GCA450613765PKHD1c.9117T>C (p.Asn3039=)
c.8988T>C (p.Asn2996=)
c.8979T>C (p.Asn2993=)
c.8475T>C (p.Asn2825=)
c.8406T>C (p.Asn2802=)
c.3192T>C (p.Asn1064=)
c.9042T>C (p.Asn3014=)
c.8922T>C (p.Asn2974=)
c.8853T>C (p.Asn2951=)
c.7257T>C (p.Asn2419=)
n.9393T>C
6g.51748499A>TCA364423729PKHD1c.9117T>A (p.Asn3039Lys)
c.8988T>A (p.Asn2996Lys)
c.8979T>A (p.Asn2993Lys)
c.8475T>A (p.Asn2825Lys)
c.8406T>A (p.Asn2802Lys)
c.3192T>A (p.Asn1064Lys)
c.9042T>A (p.Asn3014Lys)
c.8922T>A (p.Asn2974Lys)
c.8853T>A (p.Asn2951Lys)
c.7257T>A (p.Asn2419Lys)
n.9393T>A
6g.51748500T>ACA364423733PKHD1c.9116A>T (p.Asn3039Ile)
c.8987A>T (p.Asn2996Ile)
c.8978A>T (p.Asn2993Ile)
c.8474A>T (p.Asn2825Ile)
c.8405A>T (p.Asn2802Ile)
c.3191A>T (p.Asn1064Ile)
c.9041A>T (p.Asn3014Ile)
c.8921A>T (p.Asn2974Ile)
c.8852A>T (p.Asn2951Ile)
c.7256A>T (p.Asn2419Ile)
n.9392A>T
6g.51748500T>CCA364423734PKHD1c.9116A>G (p.Asn3039Ser)
c.8987A>G (p.Asn2996Ser)
c.8978A>G (p.Asn2993Ser)
c.8474A>G (p.Asn2825Ser)
c.8405A>G (p.Asn2802Ser)
c.3191A>G (p.Asn1064Ser)
c.9041A>G (p.Asn3014Ser)
c.8921A>G (p.Asn2974Ser)
c.8852A>G (p.Asn2951Ser)
c.7256A>G (p.Asn2419Ser)
n.9392A>G
 dbSNP gnomAD v2 gnomAD v4
6g.51748500T>GCA364423736PKHD1c.9116A>C (p.Asn3039Thr)
c.8987A>C (p.Asn2996Thr)
c.8978A>C (p.Asn2993Thr)
c.8474A>C (p.Asn2825Thr)
c.8405A>C (p.Asn2802Thr)
c.3191A>C (p.Asn1064Thr)
c.9041A>C (p.Asn3014Thr)
c.8921A>C (p.Asn2974Thr)
c.8852A>C (p.Asn2951Thr)
c.7256A>C (p.Asn2419Thr)
n.9392A>C
6g.51748500T=CA1628503578PKHD1c.9116A= (p.Asn3039=)
c.8987A= (p.Asn2996=)
c.8978A= (p.Asn2993=)
c.8474A= (p.Asn2825=)
c.8405A= (p.Asn2802=)
c.3191A= (p.Asn1064=)
c.9041A= (p.Asn3014=)
c.8921A= (p.Asn2974=)
c.8852A= (p.Asn2951=)
c.7256A= (p.Asn2419=)
n.9392A=
6g.51748501T>ACA364423742PKHD1c.9115A>T (p.Asn3039Tyr)
c.8986A>T (p.Asn2996Tyr)
c.8977A>T (p.Asn2993Tyr)
c.8473A>T (p.Asn2825Tyr)
c.8404A>T (p.Asn2802Tyr)
c.3190A>T (p.Asn1064Tyr)
c.9040A>T (p.Asn3014Tyr)
c.8920A>T (p.Asn2974Tyr)
c.8851A>T (p.Asn2951Tyr)
c.7255A>T (p.Asn2419Tyr)
n.9391A>T
6g.51748501T>CCA3851444PKHD1c.9115A>G (p.Asn3039Asp)
c.8986A>G (p.Asn2996Asp)
c.8977A>G (p.Asn2993Asp)
c.8473A>G (p.Asn2825Asp)
c.8404A>G (p.Asn2802Asp)
c.3190A>G (p.Asn1064Asp)
c.9040A>G (p.Asn3014Asp)
c.8920A>G (p.Asn2974Asp)
c.8851A>G (p.Asn2951Asp)
c.7255A>G (p.Asn2419Asp)
n.9391A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748501T>GCA364423752PKHD1c.9115A>C (p.Asn3039His)
c.8986A>C (p.Asn2996His)
c.8977A>C (p.Asn2993His)
c.8473A>C (p.Asn2825His)
c.8404A>C (p.Asn2802His)
c.3190A>C (p.Asn1064His)
c.9040A>C (p.Asn3014His)
c.8920A>C (p.Asn2974His)
c.8851A>C (p.Asn2951His)
c.7255A>C (p.Asn2419His)
n.9391A>C
6g.51748501T=CA1628503583PKHD1c.9115A= (p.Asn3039=)
c.8986A= (p.Asn2996=)
c.8977A= (p.Asn2993=)
c.8473A= (p.Asn2825=)
c.8404A= (p.Asn2802=)
c.3190A= (p.Asn1064=)
c.9040A= (p.Asn3014=)
c.8920A= (p.Asn2974=)
c.8851A= (p.Asn2951=)
c.7255A= (p.Asn2419=)
n.9391A=
6g.51748502T>ACA364423755PKHD1c.9114A>T (p.Leu3038Phe)
c.8985A>T (p.Leu2995Phe)
c.8976A>T (p.Leu2992Phe)
c.8472A>T (p.Leu2824Phe)
c.8403A>T (p.Leu2801Phe)
c.3189A>T (p.Leu1063Phe)
c.9039A>T (p.Leu3013Phe)
c.8919A>T (p.Leu2973Phe)
c.8850A>T (p.Leu2950Phe)
c.7254A>T (p.Leu2418Phe)
n.9390A>T
6g.51748502T>CCA450613767PKHD1c.9114A>G (p.Leu3038=)
c.8985A>G (p.Leu2995=)
c.8976A>G (p.Leu2992=)
c.8472A>G (p.Leu2824=)
c.8403A>G (p.Leu2801=)
c.3189A>G (p.Leu1063=)
c.9039A>G (p.Leu3013=)
c.8919A>G (p.Leu2973=)
c.8850A>G (p.Leu2950=)
c.7254A>G (p.Leu2418=)
n.9390A>G
6g.51748502T>GCA364423757PKHD1c.9114A>C (p.Leu3038Phe)
c.8985A>C (p.Leu2995Phe)
c.8976A>C (p.Leu2992Phe)
c.8472A>C (p.Leu2824Phe)
c.8403A>C (p.Leu2801Phe)
c.3189A>C (p.Leu1063Phe)
c.9039A>C (p.Leu3013Phe)
c.8919A>C (p.Leu2973Phe)
c.8850A>C (p.Leu2950Phe)
c.7254A>C (p.Leu2418Phe)
n.9390A>C
6g.51748502_51748503delCA913110681PKHD1c.9113_9114del (p.Leu3038Ter)
c.8984_8985del (p.Leu2995Ter)
c.8975_8976del (p.Leu2992Ter)
c.8471_8472del (p.Leu2824Ter)
c.8402_8403del (p.Leu2801Ter)
c.3188_3189del (p.Leu1063Ter)
c.9038_9039del (p.Leu3013Ter)
c.8918_8919del (p.Leu2973Ter)
c.8849_8850del (p.Leu2950Ter)
c.7253_7254del (p.Leu2418Ter)
n.9389_9390del
6g.51748502_51748503delinsTACA1628503586PKHD1c.9113_9114delinsTA (p.Leu3038=)
c.8984_8985delinsTA (p.Leu2995=)
c.8975_8976delinsTA (p.Leu2992=)
c.8471_8472delinsTA (p.Leu2824=)
c.8402_8403delinsTA (p.Leu2801=)
c.3188_3189delinsTA (p.Leu1063=)
c.9038_9039delinsTA (p.Leu3013=)
c.8918_8919delinsTA (p.Leu2973=)
c.8849_8850delinsTA (p.Leu2950=)
c.7253_7254delinsTA (p.Leu2418=)
n.9389_9390delinsTA
6g.51748503A>CCA364423759PKHD1c.9113T>G (p.Leu3038Ter)
c.8984T>G (p.Leu2995Ter)
c.8975T>G (p.Leu2992Ter)
c.8471T>G (p.Leu2824Ter)
c.8402T>G (p.Leu2801Ter)
c.3188T>G (p.Leu1063Ter)
c.9038T>G (p.Leu3013Ter)
c.8918T>G (p.Leu2973Ter)
c.8849T>G (p.Leu2950Ter)
c.7253T>G (p.Leu2418Ter)
n.9389T>G
6g.51748503A>GCA364423762PKHD1c.9113T>C (p.Leu3038Ser)
c.8984T>C (p.Leu2995Ser)
c.8975T>C (p.Leu2992Ser)
c.8471T>C (p.Leu2824Ser)
c.8402T>C (p.Leu2801Ser)
c.3188T>C (p.Leu1063Ser)
c.9038T>C (p.Leu3013Ser)
c.8918T>C (p.Leu2973Ser)
c.8849T>C (p.Leu2950Ser)
c.7253T>C (p.Leu2418Ser)
n.9389T>C
6g.51748503A>TCA364423763PKHD1c.9113T>A (p.Leu3038Ter)
c.8984T>A (p.Leu2995Ter)
c.8975T>A (p.Leu2992Ter)
c.8471T>A (p.Leu2824Ter)
c.8402T>A (p.Leu2801Ter)
c.3188T>A (p.Leu1063Ter)
c.9038T>A (p.Leu3013Ter)
c.8918T>A (p.Leu2973Ter)
c.8849T>A (p.Leu2950Ter)
c.7253T>A (p.Leu2418Ter)
n.9389T>A
6g.51748506delCA658821796PKHD1c.9113del (p.Leu3038Ter)
c.8984del (p.Leu2995Ter)
c.8975del (p.Leu2992Ter)
c.8471del (p.Leu2824Ter)
c.8402del (p.Leu2801Ter)
c.3188del (p.Leu1063Ter)
c.9038del (p.Leu3013Ter)
c.8918del (p.Leu2973Ter)
c.8849del (p.Leu2950Ter)
c.7253del (p.Leu2418Ter)
n.9389del
 ClinVar dbSNP
6g.51748504A>CCA364423767PKHD1c.9112T>G (p.Leu3038Val)
c.8983T>G (p.Leu2995Val)
c.8974T>G (p.Leu2992Val)
c.8470T>G (p.Leu2824Val)
c.8401T>G (p.Leu2801Val)
c.3187T>G (p.Leu1063Val)
c.9037T>G (p.Leu3013Val)
c.8917T>G (p.Leu2973Val)
c.8848T>G (p.Leu2950Val)
c.7252T>G (p.Leu2418Val)
n.9388T>G
6g.51748504A>GCA450613768PKHD1c.9112T>C (p.Leu3038=)
c.8983T>C (p.Leu2995=)
c.8974T>C (p.Leu2992=)
c.8470T>C (p.Leu2824=)
c.8401T>C (p.Leu2801=)
c.3187T>C (p.Leu1063=)
c.9037T>C (p.Leu3013=)
c.8917T>C (p.Leu2973=)
c.8848T>C (p.Leu2950=)
c.7252T>C (p.Leu2418=)
n.9388T>C
 ClinVar
6g.51748504A>TCA364423769PKHD1c.9112T>A (p.Leu3038Ile)
c.8983T>A (p.Leu2995Ile)
c.8974T>A (p.Leu2992Ile)
c.8470T>A (p.Leu2824Ile)
c.8401T>A (p.Leu2801Ile)
c.3187T>A (p.Leu1063Ile)
c.9037T>A (p.Leu3013Ile)
c.8917T>A (p.Leu2973Ile)
c.8848T>A (p.Leu2950Ile)
c.7252T>A (p.Leu2418Ile)
n.9388T>A
6g.51748505A>CCA450613769PKHD1c.9111T>G (p.Leu3037=)
c.8982T>G (p.Leu2994=)
c.8973T>G (p.Leu2991=)
c.8469T>G (p.Leu2823=)
c.8400T>G (p.Leu2800=)
c.3186T>G (p.Leu1062=)
c.9036T>G (p.Leu3012=)
c.8916T>G (p.Leu2972=)
c.8847T>G (p.Leu2949=)
c.7251T>G (p.Leu2417=)
n.9387T>G
6g.51748505A>GCA450613770PKHD1c.9111T>C (p.Leu3037=)
c.8982T>C (p.Leu2994=)
c.8973T>C (p.Leu2991=)
c.8469T>C (p.Leu2823=)
c.8400T>C (p.Leu2800=)
c.3186T>C (p.Leu1062=)
c.9036T>C (p.Leu3012=)
c.8916T>C (p.Leu2972=)
c.8847T>C (p.Leu2949=)
c.7251T>C (p.Leu2417=)
n.9387T>C
6g.51748505A>TCA450613771PKHD1c.9111T>A (p.Leu3037=)
c.8982T>A (p.Leu2994=)
c.8973T>A (p.Leu2991=)
c.8469T>A (p.Leu2823=)
c.8400T>A (p.Leu2800=)
c.3186T>A (p.Leu1062=)
c.9036T>A (p.Leu3012=)
c.8916T>A (p.Leu2972=)
c.8847T>A (p.Leu2949=)
c.7251T>A (p.Leu2417=)
n.9387T>A
6g.51748506A>CCA364423775PKHD1c.9110T>G (p.Leu3037Arg)
c.8981T>G (p.Leu2994Arg)
c.8972T>G (p.Leu2991Arg)
c.8468T>G (p.Leu2823Arg)
c.8399T>G (p.Leu2800Arg)
c.3185T>G (p.Leu1062Arg)
c.9035T>G (p.Leu3012Arg)
c.8915T>G (p.Leu2972Arg)
c.8846T>G (p.Leu2949Arg)
c.7250T>G (p.Leu2417Arg)
n.9386T>G
6g.51748506A>GCA364423773PKHD1c.9110T>C (p.Leu3037Pro)
c.8981T>C (p.Leu2994Pro)
c.8972T>C (p.Leu2991Pro)
c.8468T>C (p.Leu2823Pro)
c.8399T>C (p.Leu2800Pro)
c.3185T>C (p.Leu1062Pro)
c.9035T>C (p.Leu3012Pro)
c.8915T>C (p.Leu2972Pro)
c.8846T>C (p.Leu2949Pro)
c.7250T>C (p.Leu2417Pro)
n.9386T>C
 gnomAD v4
6g.51748506A>TCA364423774PKHD1c.9110T>A (p.Leu3037His)
c.8981T>A (p.Leu2994His)
c.8972T>A (p.Leu2991His)
c.8468T>A (p.Leu2823His)
c.8399T>A (p.Leu2800His)
c.3185T>A (p.Leu1062His)
c.9035T>A (p.Leu3012His)
c.8915T>A (p.Leu2972His)
c.8846T>A (p.Leu2949His)
c.7250T>A (p.Leu2417His)
n.9386T>A
6g.51748507G>ACA3851445PKHD1c.9109C>T (p.Leu3037Phe)
c.8980C>T (p.Leu2994Phe)
c.8971C>T (p.Leu2991Phe)
c.8467C>T (p.Leu2823Phe)
c.8398C>T (p.Leu2800Phe)
c.3184C>T (p.Leu1062Phe)
c.9034C>T (p.Leu3012Phe)
c.8914C>T (p.Leu2972Phe)
c.8845C>T (p.Leu2949Phe)
c.7249C>T (p.Leu2417Phe)
n.9385C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748507G>CCA364423778PKHD1c.9109C>G (p.Leu3037Val)
c.8980C>G (p.Leu2994Val)
c.8971C>G (p.Leu2991Val)
c.8467C>G (p.Leu2823Val)
c.8398C>G (p.Leu2800Val)
c.3184C>G (p.Leu1062Val)
c.9034C>G (p.Leu3012Val)
c.8914C>G (p.Leu2972Val)
c.8845C>G (p.Leu2949Val)
c.7249C>G (p.Leu2417Val)
n.9385C>G
6g.51748507G=CA1628503596PKHD1c.9109C= (p.Leu3037=)
c.8980C= (p.Leu2994=)
c.8971C= (p.Leu2991=)
c.8467C= (p.Leu2823=)
c.8398C= (p.Leu2800=)
c.3184C= (p.Leu1062=)
c.9034C= (p.Leu3012=)
c.8914C= (p.Leu2972=)
c.8845C= (p.Leu2949=)
c.7249C= (p.Leu2417=)
n.9385C=
6g.51748507G>TCA364423781PKHD1c.9109C>A (p.Leu3037Ile)
c.8980C>A (p.Leu2994Ile)
c.8971C>A (p.Leu2991Ile)
c.8467C>A (p.Leu2823Ile)
c.8398C>A (p.Leu2800Ile)
c.3184C>A (p.Leu1062Ile)
c.9034C>A (p.Leu3012Ile)
c.8914C>A (p.Leu2972Ile)
c.8845C>A (p.Leu2949Ile)
c.7249C>A (p.Leu2417Ile)
n.9385C>A
6g.51748508T>ACA450613773PKHD1c.9108A>T (p.Val3036=)
c.8979A>T (p.Val2993=)
c.8970A>T (p.Val2990=)
c.8466A>T (p.Val2822=)
c.8397A>T (p.Val2799=)
c.3183A>T (p.Val1061=)
c.9033A>T (p.Val3011=)
c.8913A>T (p.Val2971=)
c.8844A>T (p.Val2948=)
c.7248A>T (p.Val2416=)
n.9384A>T
6g.51748508T>CCA450613774PKHD1c.9108A>G (p.Val3036=)
c.8979A>G (p.Val2993=)
c.8970A>G (p.Val2990=)
c.8466A>G (p.Val2822=)
c.8397A>G (p.Val2799=)
c.3183A>G (p.Val1061=)
c.9033A>G (p.Val3011=)
c.8913A>G (p.Val2971=)
c.8844A>G (p.Val2948=)
c.7248A>G (p.Val2416=)
n.9384A>G
6g.51748508T>GCA450613775PKHD1c.9108A>C (p.Val3036=)
c.8979A>C (p.Val2993=)
c.8970A>C (p.Val2990=)
c.8466A>C (p.Val2822=)
c.8397A>C (p.Val2799=)
c.3183A>C (p.Val1061=)
c.9033A>C (p.Val3011=)
c.8913A>C (p.Val2971=)
c.8844A>C (p.Val2948=)
c.7248A>C (p.Val2416=)
n.9384A>C
6g.51748509A=CA1628503607PKHD1c.9107T= (p.Val3036=)
c.8978T= (p.Val2993=)
c.8969T= (p.Val2990=)
c.8465T= (p.Val2822=)
c.8396T= (p.Val2799=)
c.3182T= (p.Val1061=)
c.9032T= (p.Val3011=)
c.8912T= (p.Val2971=)
c.8843T= (p.Val2948=)
c.7247T= (p.Val2416=)
n.9383T=
6g.51748509A>CCA138896669PKHD1c.9107T>G (p.Val3036Gly)
c.8978T>G (p.Val2993Gly)
c.8969T>G (p.Val2990Gly)
c.8465T>G (p.Val2822Gly)
c.8396T>G (p.Val2799Gly)
c.3182T>G (p.Val1061Gly)
c.9032T>G (p.Val3011Gly)
c.8912T>G (p.Val2971Gly)
c.8843T>G (p.Val2948Gly)
c.7247T>G (p.Val2416Gly)
n.9383T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748509A>GCA364423789PKHD1c.9107T>C (p.Val3036Ala)
c.8978T>C (p.Val2993Ala)
c.8969T>C (p.Val2990Ala)
c.8465T>C (p.Val2822Ala)
c.8396T>C (p.Val2799Ala)
c.3182T>C (p.Val1061Ala)
c.9032T>C (p.Val3011Ala)
c.8912T>C (p.Val2971Ala)
c.8843T>C (p.Val2948Ala)
c.7247T>C (p.Val2416Ala)
n.9383T>C
6g.51748509A>TCA364423791PKHD1c.9107T>A (p.Val3036Glu)
c.8978T>A (p.Val2993Glu)
c.8969T>A (p.Val2990Glu)
c.8465T>A (p.Val2822Glu)
c.8396T>A (p.Val2799Glu)
c.3182T>A (p.Val1061Glu)
c.9032T>A (p.Val3011Glu)
c.8912T>A (p.Val2971Glu)
c.8843T>A (p.Val2948Glu)
c.7247T>A (p.Val2416Glu)
n.9383T>A
 gnomAD v4
6g.51748510C>ACA364423794PKHD1c.9106G>T (p.Val3036Leu)
c.8977G>T (p.Val2993Leu)
c.8968G>T (p.Val2990Leu)
c.8464G>T (p.Val2822Leu)
c.8395G>T (p.Val2799Leu)
c.3181G>T (p.Val1061Leu)
c.9031G>T (p.Val3011Leu)
c.8911G>T (p.Val2971Leu)
c.8842G>T (p.Val2948Leu)
c.7246G>T (p.Val2416Leu)
n.9382G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748510C=CA1628503613PKHD1c.9106G= (p.Val3036=)
c.8977G= (p.Val2993=)
c.8968G= (p.Val2990=)
c.8464G= (p.Val2822=)
c.8395G= (p.Val2799=)
c.3181G= (p.Val1061=)
c.9031G= (p.Val3011=)
c.8911G= (p.Val2971=)
c.8842G= (p.Val2948=)
c.7246G= (p.Val2416=)
n.9382G=
6g.51748510C>GCA364423797PKHD1c.9106G>C (p.Val3036Leu)
c.8977G>C (p.Val2993Leu)
c.8968G>C (p.Val2990Leu)
c.8464G>C (p.Val2822Leu)
c.8395G>C (p.Val2799Leu)
c.3181G>C (p.Val1061Leu)
c.9031G>C (p.Val3011Leu)
c.8911G>C (p.Val2971Leu)
c.8842G>C (p.Val2948Leu)
c.7246G>C (p.Val2416Leu)
n.9382G>C
6g.51748510C>TCA3851446PKHD1c.9106G>A (p.Val3036Ile)
c.8977G>A (p.Val2993Ile)
c.8968G>A (p.Val2990Ile)
c.8464G>A (p.Val2822Ile)
c.8395G>A (p.Val2799Ile)
c.3181G>A (p.Val1061Ile)
c.9031G>A (p.Val3011Ile)
c.8911G>A (p.Val2971Ile)
c.8842G>A (p.Val2948Ile)
c.7246G>A (p.Val2416Ile)
n.9382G>A
 dbSNP ExAC gnomAD v3 gnomAD v4
6g.51748511T>ACA450613781PKHD1c.9105A>T (p.Gly3035=)
c.8976A>T (p.Gly2992=)
c.8967A>T (p.Gly2989=)
c.8463A>T (p.Gly2821=)
c.8394A>T (p.Gly2798=)
c.3180A>T (p.Gly1060=)
c.9030A>T (p.Gly3010=)
c.8910A>T (p.Gly2970=)
c.8841A>T (p.Gly2947=)
c.7245A>T (p.Gly2415=)
n.9381A>T
6g.51748511T>CCA450613780PKHD1c.9105A>G (p.Gly3035=)
c.8976A>G (p.Gly2992=)
c.8967A>G (p.Gly2989=)
c.8463A>G (p.Gly2821=)
c.8394A>G (p.Gly2798=)
c.3180A>G (p.Gly1060=)
c.9030A>G (p.Gly3010=)
c.8910A>G (p.Gly2970=)
c.8841A>G (p.Gly2947=)
c.7245A>G (p.Gly2415=)
n.9381A>G
 gnomAD v4
6g.51748511T>GCA450613779PKHD1c.9105A>C (p.Gly3035=)
c.8976A>C (p.Gly2992=)
c.8967A>C (p.Gly2989=)
c.8463A>C (p.Gly2821=)
c.8394A>C (p.Gly2798=)
c.3180A>C (p.Gly1060=)
c.9030A>C (p.Gly3010=)
c.8910A>C (p.Gly2970=)
c.8841A>C (p.Gly2947=)
c.7245A>C (p.Gly2415=)
n.9381A>C
 gnomAD v4
6g.51748511_51748512insGATCCA2565140181PKHD1c.9104_9105insGATC (p.Val3036IlefsTer6)
c.8975_8976insGATC (p.Val2993IlefsTer6)
c.8966_8967insGATC (p.Val2990IlefsTer6)
c.8462_8463insGATC (p.Val2822IlefsTer6)
c.8393_8394insGATC (p.Val2799IlefsTer6)
c.3179_3180insGATC (p.Val1061IlefsTer6)
c.9029_9030insGATC (p.Val3011IlefsTer6)
c.8909_8910insGATC (p.Val2971IlefsTer6)
c.8840_8841insGATC (p.Val2948IlefsTer6)
c.7244_7245insGATC (p.Val2416IlefsTer6)
n.9380_9381insGATC
6g.51748512C>ACA364423801PKHD1c.9104G>T (p.Gly3035Val)
c.8975G>T (p.Gly2992Val)
c.8966G>T (p.Gly2989Val)
c.8462G>T (p.Gly2821Val)
c.8393G>T (p.Gly2798Val)
c.3179G>T (p.Gly1060Val)
c.9029G>T (p.Gly3010Val)
c.8909G>T (p.Gly2970Val)
c.8840G>T (p.Gly2947Val)
c.7244G>T (p.Gly2415Val)
n.9380G>T
 dbSNP gnomAD v4
6g.51748512C=CA1628503618PKHD1c.9104G= (p.Gly3035=)
c.8975G= (p.Gly2992=)
c.8966G= (p.Gly2989=)
c.8462G= (p.Gly2821=)
c.8393G= (p.Gly2798=)
c.3179G= (p.Gly1060=)
c.9029G= (p.Gly3010=)
c.8909G= (p.Gly2970=)
c.8840G= (p.Gly2947=)
c.7244G= (p.Gly2415=)
n.9380G=
6g.51748512C>GCA364423803PKHD1c.9104G>C (p.Gly3035Ala)
c.8975G>C (p.Gly2992Ala)
c.8966G>C (p.Gly2989Ala)
c.8462G>C (p.Gly2821Ala)
c.8393G>C (p.Gly2798Ala)
c.3179G>C (p.Gly1060Ala)
c.9029G>C (p.Gly3010Ala)
c.8909G>C (p.Gly2970Ala)
c.8840G>C (p.Gly2947Ala)
c.7244G>C (p.Gly2415Ala)
n.9380G>C
6g.51748512C>TCA364423809PKHD1c.9104G>A (p.Gly3035Glu)
c.8975G>A (p.Gly2992Glu)
c.8966G>A (p.Gly2989Glu)
c.8462G>A (p.Gly2821Glu)
c.8393G>A (p.Gly2798Glu)
c.3179G>A (p.Gly1060Glu)
c.9029G>A (p.Gly3010Glu)
c.8909G>A (p.Gly2970Glu)
c.8840G>A (p.Gly2947Glu)
c.7244G>A (p.Gly2415Glu)
n.9380G>A
 gnomAD v4
6g.51748513delCA2695206433PKHD1c.9104del (p.Gly3035GlufsTer4)
c.8975del (p.Gly2992GlufsTer4)
c.8966del (p.Gly2989GlufsTer4)
c.8462del (p.Gly2821GlufsTer4)
c.8393del (p.Gly2798GlufsTer4)
c.3179del (p.Gly1060GlufsTer4)
c.9029del (p.Gly3010GlufsTer4)
c.8909del (p.Gly2970GlufsTer4)
c.8840del (p.Gly2947GlufsTer4)
c.7244del (p.Gly2415GlufsTer4)
n.9380del
6g.51748513C>ACA364423813PKHD1c.9103G>T (p.Gly3035Ter)
c.8974G>T (p.Gly2992Ter)
c.8965G>T (p.Gly2989Ter)
c.8461G>T (p.Gly2821Ter)
c.8392G>T (p.Gly2798Ter)
c.3178G>T (p.Gly1060Ter)
c.9028G>T (p.Gly3010Ter)
c.8908G>T (p.Gly2970Ter)
c.8839G>T (p.Gly2947Ter)
c.7243G>T (p.Gly2415Ter)
n.9379G>T
 dbSNP gnomAD v4
6g.51748513C=CA1628503625PKHD1c.9103G= (p.Gly3035=)
c.8974G= (p.Gly2992=)
c.8965G= (p.Gly2989=)
c.8461G= (p.Gly2821=)
c.8392G= (p.Gly2798=)
c.3178G= (p.Gly1060=)
c.9028G= (p.Gly3010=)
c.8908G= (p.Gly2970=)
c.8839G= (p.Gly2947=)
c.7243G= (p.Gly2415=)
n.9379G=
6g.51748513C>GCA364423816PKHD1c.9103G>C (p.Gly3035Arg)
c.8974G>C (p.Gly2992Arg)
c.8965G>C (p.Gly2989Arg)
c.8461G>C (p.Gly2821Arg)
c.8392G>C (p.Gly2798Arg)
c.3178G>C (p.Gly1060Arg)
c.9028G>C (p.Gly3010Arg)
c.8908G>C (p.Gly2970Arg)
c.8839G>C (p.Gly2947Arg)
c.7243G>C (p.Gly2415Arg)
n.9379G>C
6g.51748513C>TCA364423811PKHD1c.9103G>A (p.Gly3035Arg)
c.8974G>A (p.Gly2992Arg)
c.8965G>A (p.Gly2989Arg)
c.8461G>A (p.Gly2821Arg)
c.8392G>A (p.Gly2798Arg)
c.3178G>A (p.Gly1060Arg)
c.9028G>A (p.Gly3010Arg)
c.8908G>A (p.Gly2970Arg)
c.8839G>A (p.Gly2947Arg)
c.7243G>A (p.Gly2415Arg)
n.9379G>A
 gnomAD v4
6g.51748514A>CCA364423819PKHD1c.9102T>G (p.His3034Gln)
c.8973T>G (p.His2991Gln)
c.8964T>G (p.His2988Gln)
c.8460T>G (p.His2820Gln)
c.8391T>G (p.His2797Gln)
c.3177T>G (p.His1059Gln)
c.9027T>G (p.His3009Gln)
c.8907T>G (p.His2969Gln)
c.8838T>G (p.His2946Gln)
c.7242T>G (p.His2414Gln)
n.9378T>G
6g.51748514A>GCA450613783PKHD1c.9102T>C (p.His3034=)
c.8973T>C (p.His2991=)
c.8964T>C (p.His2988=)
c.8460T>C (p.His2820=)
c.8391T>C (p.His2797=)
c.3177T>C (p.His1059=)
c.9027T>C (p.His3009=)
c.8907T>C (p.His2969=)
c.8838T>C (p.His2946=)
c.7242T>C (p.His2414=)
n.9378T>C
6g.51748514A>TCA364423824PKHD1c.9102T>A (p.His3034Gln)
c.8973T>A (p.His2991Gln)
c.8964T>A (p.His2988Gln)
c.8460T>A (p.His2820Gln)
c.8391T>A (p.His2797Gln)
c.3177T>A (p.His1059Gln)
c.9027T>A (p.His3009Gln)
c.8907T>A (p.His2969Gln)
c.8838T>A (p.His2946Gln)
c.7242T>A (p.His2414Gln)
n.9378T>A
6g.51748515T>ACA364423827PKHD1c.9101A>T (p.His3034Leu)
c.8972A>T (p.His2991Leu)
c.8963A>T (p.His2988Leu)
c.8459A>T (p.His2820Leu)
c.8390A>T (p.His2797Leu)
c.3176A>T (p.His1059Leu)
c.9026A>T (p.His3009Leu)
c.8906A>T (p.His2969Leu)
c.8837A>T (p.His2946Leu)
c.7241A>T (p.His2414Leu)
n.9377A>T
6g.51748515T>CCA364423829PKHD1c.9101A>G (p.His3034Arg)
c.8972A>G (p.His2991Arg)
c.8963A>G (p.His2988Arg)
c.8459A>G (p.His2820Arg)
c.8390A>G (p.His2797Arg)
c.3176A>G (p.His1059Arg)
c.9026A>G (p.His3009Arg)
c.8906A>G (p.His2969Arg)
c.8837A>G (p.His2946Arg)
c.7241A>G (p.His2414Arg)
n.9377A>G
6g.51748515T>GCA364423832PKHD1c.9101A>C (p.His3034Pro)
c.8972A>C (p.His2991Pro)
c.8963A>C (p.His2988Pro)
c.8459A>C (p.His2820Pro)
c.8390A>C (p.His2797Pro)
c.3176A>C (p.His1059Pro)
c.9026A>C (p.His3009Pro)
c.8906A>C (p.His2969Pro)
c.8837A>C (p.His2946Pro)
c.7241A>C (p.His2414Pro)
n.9377A>C
6g.51748516G>ACA364423835PKHD1c.9100C>T (p.His3034Tyr)
c.8971C>T (p.His2991Tyr)
c.8962C>T (p.His2988Tyr)
c.8458C>T (p.His2820Tyr)
c.8389C>T (p.His2797Tyr)
c.3175C>T (p.His1059Tyr)
c.9025C>T (p.His3009Tyr)
c.8905C>T (p.His2969Tyr)
c.8836C>T (p.His2946Tyr)
c.7240C>T (p.His2414Tyr)
n.9376C>T
6g.51748516G>CCA364423837PKHD1c.9100C>G (p.His3034Asp)
c.8971C>G (p.His2991Asp)
c.8962C>G (p.His2988Asp)
c.8458C>G (p.His2820Asp)
c.8389C>G (p.His2797Asp)
c.3175C>G (p.His1059Asp)
c.9025C>G (p.His3009Asp)
c.8905C>G (p.His2969Asp)
c.8836C>G (p.His2946Asp)
c.7240C>G (p.His2414Asp)
n.9376C>G
6g.51748516G>TCA364423840PKHD1c.9100C>A (p.His3034Asn)
c.8971C>A (p.His2991Asn)
c.8962C>A (p.His2988Asn)
c.8458C>A (p.His2820Asn)
c.8389C>A (p.His2797Asn)
c.3175C>A (p.His1059Asn)
c.9025C>A (p.His3009Asn)
c.8905C>A (p.His2969Asn)
c.8836C>A (p.His2946Asn)
c.7240C>A (p.His2414Asn)
n.9376C>A
 COSMIC COSMIC
6g.51748517A>CCA364423841PKHD1c.9099T>G (p.Ser3033Arg)
c.8970T>G (p.Ser2990Arg)
c.8961T>G (p.Ser2987Arg)
c.8457T>G (p.Ser2819Arg)
c.8388T>G (p.Ser2796Arg)
c.3174T>G (p.Ser1058Arg)
c.9024T>G (p.Ser3008Arg)
c.8904T>G (p.Ser2968Arg)
c.8835T>G (p.Ser2945Arg)
c.7239T>G (p.Ser2413Arg)
n.9375T>G
6g.51748517A>GCA450613787PKHD1c.9099T>C (p.Ser3033=)
c.8970T>C (p.Ser2990=)
c.8961T>C (p.Ser2987=)
c.8457T>C (p.Ser2819=)
c.8388T>C (p.Ser2796=)
c.3174T>C (p.Ser1058=)
c.9024T>C (p.Ser3008=)
c.8904T>C (p.Ser2968=)
c.8835T>C (p.Ser2945=)
c.7239T>C (p.Ser2413=)
n.9375T>C
6g.51748517A>TCA364423844PKHD1c.9099T>A (p.Ser3033Arg)
c.8970T>A (p.Ser2990Arg)
c.8961T>A (p.Ser2987Arg)
c.8457T>A (p.Ser2819Arg)
c.8388T>A (p.Ser2796Arg)
c.3174T>A (p.Ser1058Arg)
c.9024T>A (p.Ser3008Arg)
c.8904T>A (p.Ser2968Arg)
c.8835T>A (p.Ser2945Arg)
c.7239T>A (p.Ser2413Arg)
n.9375T>A
6g.51748518C>ACA364423847PKHD1c.9098G>T (p.Ser3033Ile)
c.8969G>T (p.Ser2990Ile)
c.8960G>T (p.Ser2987Ile)
c.8456G>T (p.Ser2819Ile)
c.8387G>T (p.Ser2796Ile)
c.3173G>T (p.Ser1058Ile)
c.9023G>T (p.Ser3008Ile)
c.8903G>T (p.Ser2968Ile)
c.8834G>T (p.Ser2945Ile)
c.7238G>T (p.Ser2413Ile)
n.9374G>T
6g.51748518C>GCA364423849PKHD1c.9098G>C (p.Ser3033Thr)
c.8969G>C (p.Ser2990Thr)
c.8960G>C (p.Ser2987Thr)
c.8456G>C (p.Ser2819Thr)
c.8387G>C (p.Ser2796Thr)
c.3173G>C (p.Ser1058Thr)
c.9023G>C (p.Ser3008Thr)
c.8903G>C (p.Ser2968Thr)
c.8834G>C (p.Ser2945Thr)
c.7238G>C (p.Ser2413Thr)
n.9374G>C
6g.51748518C>TCA364423852PKHD1c.9098G>A (p.Ser3033Asn)
c.8969G>A (p.Ser2990Asn)
c.8960G>A (p.Ser2987Asn)
c.8456G>A (p.Ser2819Asn)
c.8387G>A (p.Ser2796Asn)
c.3173G>A (p.Ser1058Asn)
c.9023G>A (p.Ser3008Asn)
c.8903G>A (p.Ser2968Asn)
c.8834G>A (p.Ser2945Asn)
c.7238G>A (p.Ser2413Asn)
n.9374G>A
 dbSNP
6g.51748519T>ACA364423861PKHD1c.9097A>T (p.Ser3033Cys)
c.8968A>T (p.Ser2990Cys)
c.8959A>T (p.Ser2987Cys)
c.8455A>T (p.Ser2819Cys)
c.8386A>T (p.Ser2796Cys)
c.3172A>T (p.Ser1058Cys)
c.9022A>T (p.Ser3008Cys)
c.8902A>T (p.Ser2968Cys)
c.8833A>T (p.Ser2945Cys)
c.7237A>T (p.Ser2413Cys)
n.9373A>T
6g.51748519T>CCA3851447PKHD1c.9097A>G (p.Ser3033Gly)
c.8968A>G (p.Ser2990Gly)
c.8959A>G (p.Ser2987Gly)
c.8455A>G (p.Ser2819Gly)
c.8386A>G (p.Ser2796Gly)
c.3172A>G (p.Ser1058Gly)
c.9022A>G (p.Ser3008Gly)
c.8902A>G (p.Ser2968Gly)
c.8833A>G (p.Ser2945Gly)
c.7237A>G (p.Ser2413Gly)
n.9373A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748519T>GCA364423856PKHD1c.9097A>C (p.Ser3033Arg)
c.8968A>C (p.Ser2990Arg)
c.8959A>C (p.Ser2987Arg)
c.8455A>C (p.Ser2819Arg)
c.8386A>C (p.Ser2796Arg)
c.3172A>C (p.Ser1058Arg)
c.9022A>C (p.Ser3008Arg)
c.8902A>C (p.Ser2968Arg)
c.8833A>C (p.Ser2945Arg)
c.7237A>C (p.Ser2413Arg)
n.9373A>C
6g.51748519T=CA1628503629PKHD1c.9097A= (p.Ser3033=)
c.8968A= (p.Ser2990=)
c.8959A= (p.Ser2987=)
c.8455A= (p.Ser2819=)
c.8386A= (p.Ser2796=)
c.3172A= (p.Ser1058=)
c.9022A= (p.Ser3008=)
c.8902A= (p.Ser2968=)
c.8833A= (p.Ser2945=)
c.7237A= (p.Ser2413=)
n.9373A=
6g.51748520G>ACA450613790PKHD1c.9096C>T (p.Ala3032=)
c.8967C>T (p.Ala2989=)
c.8958C>T (p.Ala2986=)
c.8454C>T (p.Ala2818=)
c.8385C>T (p.Ala2795=)
c.3171C>T (p.Ala1057=)
c.9021C>T (p.Ala3007=)
c.8901C>T (p.Ala2967=)
c.8832C>T (p.Ala2944=)
c.7236C>T (p.Ala2412=)
n.9372C>T
 ClinVar
6g.51748520G>CCA450613791PKHD1c.9096C>G (p.Ala3032=)
c.8967C>G (p.Ala2989=)
c.8958C>G (p.Ala2986=)
c.8454C>G (p.Ala2818=)
c.8385C>G (p.Ala2795=)
c.3171C>G (p.Ala1057=)
c.9021C>G (p.Ala3007=)
c.8901C>G (p.Ala2967=)
c.8832C>G (p.Ala2944=)
c.7236C>G (p.Ala2412=)
n.9372C>G
6g.51748520G>TCA450613792PKHD1c.9096C>A (p.Ala3032=)
c.8967C>A (p.Ala2989=)
c.8958C>A (p.Ala2986=)
c.8454C>A (p.Ala2818=)
c.8385C>A (p.Ala2795=)
c.3171C>A (p.Ala1057=)
c.9021C>A (p.Ala3007=)
c.8901C>A (p.Ala2967=)
c.8832C>A (p.Ala2944=)
c.7236C>A (p.Ala2412=)
n.9372C>A
 ClinVar
6g.51748521G>ACA364423865PKHD1c.9095C>T (p.Ala3032Val)
c.8966C>T (p.Ala2989Val)
c.8957C>T (p.Ala2986Val)
c.8453C>T (p.Ala2818Val)
c.8384C>T (p.Ala2795Val)
c.3170C>T (p.Ala1057Val)
c.9020C>T (p.Ala3007Val)
c.8900C>T (p.Ala2967Val)
c.8831C>T (p.Ala2944Val)
c.7235C>T (p.Ala2412Val)
n.9371C>T
 dbSNP gnomAD v2 gnomAD v4
6g.51748521G>CCA364423868PKHD1c.9095C>G (p.Ala3032Gly)
c.8966C>G (p.Ala2989Gly)
c.8957C>G (p.Ala2986Gly)
c.8453C>G (p.Ala2818Gly)
c.8384C>G (p.Ala2795Gly)
c.3170C>G (p.Ala1057Gly)
c.9020C>G (p.Ala3007Gly)
c.8900C>G (p.Ala2967Gly)
c.8831C>G (p.Ala2944Gly)
c.7235C>G (p.Ala2412Gly)
n.9371C>G
6g.51748521G=CA1628503636PKHD1c.9095C= (p.Ala3032=)
c.8966C= (p.Ala2989=)
c.8957C= (p.Ala2986=)
c.8453C= (p.Ala2818=)
c.8384C= (p.Ala2795=)
c.3170C= (p.Ala1057=)
c.9020C= (p.Ala3007=)
c.8900C= (p.Ala2967=)
c.8831C= (p.Ala2944=)
c.7235C= (p.Ala2412=)
n.9371C=
6g.51748521G>TCA364423870PKHD1c.9095C>A (p.Ala3032Asp)
c.8966C>A (p.Ala2989Asp)
c.8957C>A (p.Ala2986Asp)
c.8453C>A (p.Ala2818Asp)
c.8384C>A (p.Ala2795Asp)
c.3170C>A (p.Ala1057Asp)
c.9020C>A (p.Ala3007Asp)
c.8900C>A (p.Ala2967Asp)
c.8831C>A (p.Ala2944Asp)
c.7235C>A (p.Ala2412Asp)
n.9371C>A
 ClinVar dbSNP
6g.51748522C>ACA364423872PKHD1c.9094G>T (p.Ala3032Ser)
c.8965G>T (p.Ala2989Ser)
c.8956G>T (p.Ala2986Ser)
c.8452G>T (p.Ala2818Ser)
c.8383G>T (p.Ala2795Ser)
c.3169G>T (p.Ala1057Ser)
c.9019G>T (p.Ala3007Ser)
c.8899G>T (p.Ala2967Ser)
c.8830G>T (p.Ala2944Ser)
c.7234G>T (p.Ala2412Ser)
n.9370G>T
 COSMIC COSMIC
6g.51748522C=CA1628503642PKHD1c.9094G= (p.Ala3032=)
c.8965G= (p.Ala2989=)
c.8956G= (p.Ala2986=)
c.8452G= (p.Ala2818=)
c.8383G= (p.Ala2795=)
c.3169G= (p.Ala1057=)
c.9019G= (p.Ala3007=)
c.8899G= (p.Ala2967=)
c.8830G= (p.Ala2944=)
c.7234G= (p.Ala2412=)
n.9370G=
6g.51748522C>GCA364423874PKHD1c.9094G>C (p.Ala3032Pro)
c.8965G>C (p.Ala2989Pro)
c.8956G>C (p.Ala2986Pro)
c.8452G>C (p.Ala2818Pro)
c.8383G>C (p.Ala2795Pro)
c.3169G>C (p.Ala1057Pro)
c.9019G>C (p.Ala3007Pro)
c.8899G>C (p.Ala2967Pro)
c.8830G>C (p.Ala2944Pro)
c.7234G>C (p.Ala2412Pro)
n.9370G>C
 dbSNP gnomAD v2 gnomAD v4
6g.51748522C>TCA364423877PKHD1c.9094G>A (p.Ala3032Thr)
c.8965G>A (p.Ala2989Thr)
c.8956G>A (p.Ala2986Thr)
c.8452G>A (p.Ala2818Thr)
c.8383G>A (p.Ala2795Thr)
c.3169G>A (p.Ala1057Thr)
c.9019G>A (p.Ala3007Thr)
c.8899G>A (p.Ala2967Thr)
c.8830G>A (p.Ala2944Thr)
c.7234G>A (p.Ala2412Thr)
n.9370G>A
6g.51748523A>CCA450613794PKHD1c.9093T>G (p.Ala3031=)
c.8964T>G (p.Ala2988=)
c.8955T>G (p.Ala2985=)
c.8451T>G (p.Ala2817=)
c.8382T>G (p.Ala2794=)
c.3168T>G (p.Ala1056=)
c.9018T>G (p.Ala3006=)
c.8898T>G (p.Ala2966=)
c.8829T>G (p.Ala2943=)
c.7233T>G (p.Ala2411=)
n.9369T>G
6g.51748523A>GCA450613795PKHD1c.9093T>C (p.Ala3031=)
c.8964T>C (p.Ala2988=)
c.8955T>C (p.Ala2985=)
c.8451T>C (p.Ala2817=)
c.8382T>C (p.Ala2794=)
c.3168T>C (p.Ala1056=)
c.9018T>C (p.Ala3006=)
c.8898T>C (p.Ala2966=)
c.8829T>C (p.Ala2943=)
c.7233T>C (p.Ala2411=)
n.9369T>C
6g.51748523A>TCA450613796PKHD1c.9093T>A (p.Ala3031=)
c.8964T>A (p.Ala2988=)
c.8955T>A (p.Ala2985=)
c.8451T>A (p.Ala2817=)
c.8382T>A (p.Ala2794=)
c.3168T>A (p.Ala1056=)
c.9018T>A (p.Ala3006=)
c.8898T>A (p.Ala2966=)
c.8829T>A (p.Ala2943=)
c.7233T>A (p.Ala2411=)
n.9369T>A
6g.51748524G>ACA364423881PKHD1c.9092C>T (p.Ala3031Val)
c.8963C>T (p.Ala2988Val)
c.8954C>T (p.Ala2985Val)
c.8450C>T (p.Ala2817Val)
c.8381C>T (p.Ala2794Val)
c.3167C>T (p.Ala1056Val)
c.9017C>T (p.Ala3006Val)
c.8897C>T (p.Ala2966Val)
c.8828C>T (p.Ala2943Val)
c.7232C>T (p.Ala2411Val)
n.9368C>T
6g.51748524G>CCA364423883PKHD1c.9092C>G (p.Ala3031Gly)
c.8963C>G (p.Ala2988Gly)
c.8954C>G (p.Ala2985Gly)
c.8450C>G (p.Ala2817Gly)
c.8381C>G (p.Ala2794Gly)
c.3167C>G (p.Ala1056Gly)
c.9017C>G (p.Ala3006Gly)
c.8897C>G (p.Ala2966Gly)
c.8828C>G (p.Ala2943Gly)
c.7232C>G (p.Ala2411Gly)
n.9368C>G
6g.51748524G>TCA364423886PKHD1c.9092C>A (p.Ala3031Asp)
c.8963C>A (p.Ala2988Asp)
c.8954C>A (p.Ala2985Asp)
c.8450C>A (p.Ala2817Asp)
c.8381C>A (p.Ala2794Asp)
c.3167C>A (p.Ala1056Asp)
c.9017C>A (p.Ala3006Asp)
c.8897C>A (p.Ala2966Asp)
c.8828C>A (p.Ala2943Asp)
c.7232C>A (p.Ala2411Asp)
n.9368C>A
6g.51748525C>ACA364423891PKHD1c.9091G>T (p.Ala3031Ser)
c.8962G>T (p.Ala2988Ser)
c.8953G>T (p.Ala2985Ser)
c.8449G>T (p.Ala2817Ser)
c.8380G>T (p.Ala2794Ser)
c.3166G>T (p.Ala1056Ser)
c.9016G>T (p.Ala3006Ser)
c.8896G>T (p.Ala2966Ser)
c.8827G>T (p.Ala2943Ser)
c.7231G>T (p.Ala2411Ser)
n.9367G>T
6g.51748525C=CA1628503649PKHD1c.9091G= (p.Ala3031=)
c.8962G= (p.Ala2988=)
c.8953G= (p.Ala2985=)
c.8449G= (p.Ala2817=)
c.8380G= (p.Ala2794=)
c.3166G= (p.Ala1056=)
c.9016G= (p.Ala3006=)
c.8896G= (p.Ala2966=)
c.8827G= (p.Ala2943=)
c.7231G= (p.Ala2411=)
n.9367G=
6g.51748525C>GCA3851448PKHD1c.9091G>C (p.Ala3031Pro)
c.8962G>C (p.Ala2988Pro)
c.8953G>C (p.Ala2985Pro)
c.8449G>C (p.Ala2817Pro)
c.8380G>C (p.Ala2794Pro)
c.3166G>C (p.Ala1056Pro)
c.9016G>C (p.Ala3006Pro)
c.8896G>C (p.Ala2966Pro)
c.8827G>C (p.Ala2943Pro)
c.7231G>C (p.Ala2411Pro)
n.9367G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748525C>TCA364423895PKHD1c.9091G>A (p.Ala3031Thr)
c.8962G>A (p.Ala2988Thr)
c.8953G>A (p.Ala2985Thr)
c.8449G>A (p.Ala2817Thr)
c.8380G>A (p.Ala2794Thr)
c.3166G>A (p.Ala1056Thr)
c.9016G>A (p.Ala3006Thr)
c.8896G>A (p.Ala2966Thr)
c.8827G>A (p.Ala2943Thr)
c.7231G>A (p.Ala2411Thr)
n.9367G>A
6g.51748526T>ACA450613801PKHD1c.9090A>T (p.Ala3030=)
c.8961A>T (p.Ala2987=)
c.8952A>T (p.Ala2984=)
c.8448A>T (p.Ala2816=)
c.8379A>T (p.Ala2793=)
c.3165A>T (p.Ala1055=)
c.9015A>T (p.Ala3005=)
c.8895A>T (p.Ala2965=)
c.8826A>T (p.Ala2942=)
c.7230A>T (p.Ala2410=)
n.9366A>T
6g.51748526T>CCA450613802PKHD1c.9090A>G (p.Ala3030=)
c.8961A>G (p.Ala2987=)
c.8952A>G (p.Ala2984=)
c.8448A>G (p.Ala2816=)
c.8379A>G (p.Ala2793=)
c.3165A>G (p.Ala1055=)
c.9015A>G (p.Ala3005=)
c.8895A>G (p.Ala2965=)
c.8826A>G (p.Ala2942=)
c.7230A>G (p.Ala2410=)
n.9366A>G
 ClinVar dbSNP gnomAD v4
6g.51748526T>GCA450613800PKHD1c.9090A>C (p.Ala3030=)
c.8961A>C (p.Ala2987=)
c.8952A>C (p.Ala2984=)
c.8448A>C (p.Ala2816=)
c.8379A>C (p.Ala2793=)
c.3165A>C (p.Ala1055=)
c.9015A>C (p.Ala3005=)
c.8895A>C (p.Ala2965=)
c.8826A>C (p.Ala2942=)
c.7230A>C (p.Ala2410=)
n.9366A>C
6g.51748527G>ACA364423897PKHD1c.9089C>T (p.Ala3030Val)
c.8960C>T (p.Ala2987Val)
c.8951C>T (p.Ala2984Val)
c.8447C>T (p.Ala2816Val)
c.8378C>T (p.Ala2793Val)
c.3164C>T (p.Ala1055Val)
c.9014C>T (p.Ala3005Val)
c.8894C>T (p.Ala2965Val)
c.8825C>T (p.Ala2942Val)
c.7229C>T (p.Ala2410Val)
n.9365C>T
6g.51748527G>CCA364423900PKHD1c.9089C>G (p.Ala3030Gly)
c.8960C>G (p.Ala2987Gly)
c.8951C>G (p.Ala2984Gly)
c.8447C>G (p.Ala2816Gly)
c.8378C>G (p.Ala2793Gly)
c.3164C>G (p.Ala1055Gly)
c.9014C>G (p.Ala3005Gly)
c.8894C>G (p.Ala2965Gly)
c.8825C>G (p.Ala2942Gly)
c.7229C>G (p.Ala2410Gly)
n.9365C>G
6g.51748527G>TCA364423901PKHD1c.9089C>A (p.Ala3030Glu)
c.8960C>A (p.Ala2987Glu)
c.8951C>A (p.Ala2984Glu)
c.8447C>A (p.Ala2816Glu)
c.8378C>A (p.Ala2793Glu)
c.3164C>A (p.Ala1055Glu)
c.9014C>A (p.Ala3005Glu)
c.8894C>A (p.Ala2965Glu)
c.8825C>A (p.Ala2942Glu)
c.7229C>A (p.Ala2410Glu)
n.9365C>A
6g.51748528C>ACA364423905PKHD1c.9088G>T (p.Ala3030Ser)
c.8959G>T (p.Ala2987Ser)
c.8950G>T (p.Ala2984Ser)
c.8446G>T (p.Ala2816Ser)
c.8377G>T (p.Ala2793Ser)
c.3163G>T (p.Ala1055Ser)
c.9013G>T (p.Ala3005Ser)
c.8893G>T (p.Ala2965Ser)
c.8824G>T (p.Ala2942Ser)
c.7228G>T (p.Ala2410Ser)
n.9364G>T
6g.51748528C=CA1628503656PKHD1c.9088G= (p.Ala3030=)
c.8959G= (p.Ala2987=)
c.8950G= (p.Ala2984=)
c.8446G= (p.Ala2816=)
c.8377G= (p.Ala2793=)
c.3163G= (p.Ala1055=)
c.9013G= (p.Ala3005=)
c.8893G= (p.Ala2965=)
c.8824G= (p.Ala2942=)
c.7228G= (p.Ala2410=)
n.9364G=
6g.51748528C>GCA3851449PKHD1c.9088G>C (p.Ala3030Pro)
c.8959G>C (p.Ala2987Pro)
c.8950G>C (p.Ala2984Pro)
c.8446G>C (p.Ala2816Pro)
c.8377G>C (p.Ala2793Pro)
c.3163G>C (p.Ala1055Pro)
c.9013G>C (p.Ala3005Pro)
c.8893G>C (p.Ala2965Pro)
c.8824G>C (p.Ala2942Pro)
c.7228G>C (p.Ala2410Pro)
n.9364G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748528C>TCA364423904PKHD1c.9088G>A (p.Ala3030Thr)
c.8959G>A (p.Ala2987Thr)
c.8950G>A (p.Ala2984Thr)
c.8446G>A (p.Ala2816Thr)
c.8377G>A (p.Ala2793Thr)
c.3163G>A (p.Ala1055Thr)
c.9013G>A (p.Ala3005Thr)
c.8893G>A (p.Ala2965Thr)
c.8824G>A (p.Ala2942Thr)
c.7228G>A (p.Ala2410Thr)
n.9364G>A
6g.51748529A=CA1628503659PKHD1c.9087T= (p.His3029=)
c.8958T= (p.His2986=)
c.8949T= (p.His2983=)
c.8445T= (p.His2815=)
c.8376T= (p.His2792=)
c.3162T= (p.His1054=)
c.9012T= (p.His3004=)
c.8892T= (p.His2964=)
c.8823T= (p.His2941=)
c.7227T= (p.His2409=)
n.9363T=
6g.51748529A>CCA364423908PKHD1c.9087T>G (p.His3029Gln)
c.8958T>G (p.His2986Gln)
c.8949T>G (p.His2983Gln)
c.8445T>G (p.His2815Gln)
c.8376T>G (p.His2792Gln)
c.3162T>G (p.His1054Gln)
c.9012T>G (p.His3004Gln)
c.8892T>G (p.His2964Gln)
c.8823T>G (p.His2941Gln)
c.7227T>G (p.His2409Gln)
n.9363T>G
6g.51748529A>GCA3851450PKHD1c.9087T>C (p.His3029=)
c.8958T>C (p.His2986=)
c.8949T>C (p.His2983=)
c.8445T>C (p.His2815=)
c.8376T>C (p.His2792=)
c.3162T>C (p.His1054=)
c.9012T>C (p.His3004=)
c.8892T>C (p.His2964=)
c.8823T>C (p.His2941=)
c.7227T>C (p.His2409=)
n.9363T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748529A>TCA364423910PKHD1c.9087T>A (p.His3029Gln)
c.8958T>A (p.His2986Gln)
c.8949T>A (p.His2983Gln)
c.8445T>A (p.His2815Gln)
c.8376T>A (p.His2792Gln)
c.3162T>A (p.His1054Gln)
c.9012T>A (p.His3004Gln)
c.8892T>A (p.His2964Gln)
c.8823T>A (p.His2941Gln)
c.7227T>A (p.His2409Gln)
n.9363T>A
6g.51748530T>ACA3851451PKHD1c.9086A>T (p.His3029Leu)
c.8957A>T (p.His2986Leu)
c.8948A>T (p.His2983Leu)
c.8444A>T (p.His2815Leu)
c.8375A>T (p.His2792Leu)
c.3161A>T (p.His1054Leu)
c.9011A>T (p.His3004Leu)
c.8891A>T (p.His2964Leu)
c.8822A>T (p.His2941Leu)
c.7226A>T (p.His2409Leu)
n.9362A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748530T>CCA364423919PKHD1c.9086A>G (p.His3029Arg)
c.8957A>G (p.His2986Arg)
c.8948A>G (p.His2983Arg)
c.8444A>G (p.His2815Arg)
c.8375A>G (p.His2792Arg)
c.3161A>G (p.His1054Arg)
c.9011A>G (p.His3004Arg)
c.8891A>G (p.His2964Arg)
c.8822A>G (p.His2941Arg)
c.7226A>G (p.His2409Arg)
n.9362A>G
6g.51748530T>GCA364423921PKHD1c.9086A>C (p.His3029Pro)
c.8957A>C (p.His2986Pro)
c.8948A>C (p.His2983Pro)
c.8444A>C (p.His2815Pro)
c.8375A>C (p.His2792Pro)
c.3161A>C (p.His1054Pro)
c.9011A>C (p.His3004Pro)
c.8891A>C (p.His2964Pro)
c.8822A>C (p.His2941Pro)
c.7226A>C (p.His2409Pro)
n.9362A>C
 gnomAD v4
6g.51748530T=CA1628503665PKHD1c.9086A= (p.His3029=)
c.8957A= (p.His2986=)
c.8948A= (p.His2983=)
c.8444A= (p.His2815=)
c.8375A= (p.His2792=)
c.3161A= (p.His1054=)
c.9011A= (p.His3004=)
c.8891A= (p.His2964=)
c.8822A= (p.His2941=)
c.7226A= (p.His2409=)
n.9362A=
6g.51748531G>ACA364423924PKHD1c.9085C>T (p.His3029Tyr)
c.8956C>T (p.His2986Tyr)
c.8947C>T (p.His2983Tyr)
c.8443C>T (p.His2815Tyr)
c.8374C>T (p.His2792Tyr)
c.3160C>T (p.His1054Tyr)
c.9010C>T (p.His3004Tyr)
c.8890C>T (p.His2964Tyr)
c.8821C>T (p.His2941Tyr)
c.7225C>T (p.His2409Tyr)
n.9361C>T
 COSMIC COSMIC
6g.51748531G>CCA364423927PKHD1c.9085C>G (p.His3029Asp)
c.8956C>G (p.His2986Asp)
c.8947C>G (p.His2983Asp)
c.8443C>G (p.His2815Asp)
c.8374C>G (p.His2792Asp)
c.3160C>G (p.His1054Asp)
c.9010C>G (p.His3004Asp)
c.8890C>G (p.His2964Asp)
c.8821C>G (p.His2941Asp)
c.7225C>G (p.His2409Asp)
n.9361C>G
6g.51748531G>TCA364423930PKHD1c.9085C>A (p.His3029Asn)
c.8956C>A (p.His2986Asn)
c.8947C>A (p.His2983Asn)
c.8443C>A (p.His2815Asn)
c.8374C>A (p.His2792Asn)
c.3160C>A (p.His1054Asn)
c.9010C>A (p.His3004Asn)
c.8890C>A (p.His2964Asn)
c.8821C>A (p.His2941Asn)
c.7225C>A (p.His2409Asn)
n.9361C>A
 gnomAD v4
6g.51748532A>CCA364423932PKHD1c.9084T>G (p.Ile3028Met)
c.8955T>G (p.Ile2985Met)
c.8946T>G (p.Ile2982Met)
c.8442T>G (p.Ile2814Met)
c.8373T>G (p.Ile2791Met)
c.3159T>G (p.Ile1053Met)
c.9009T>G (p.Ile3003Met)
c.8889T>G (p.Ile2963Met)
c.8820T>G (p.Ile2940Met)
c.7224T>G (p.Ile2408Met)
n.9360T>G
6g.51748532A>GCA450613807PKHD1c.9084T>C (p.Ile3028=)
c.8955T>C (p.Ile2985=)
c.8946T>C (p.Ile2982=)
c.8442T>C (p.Ile2814=)
c.8373T>C (p.Ile2791=)
c.3159T>C (p.Ile1053=)
c.9009T>C (p.Ile3003=)
c.8889T>C (p.Ile2963=)
c.8820T>C (p.Ile2940=)
c.7224T>C (p.Ile2408=)
n.9360T>C
6g.51748532A>TCA450613808PKHD1c.9084T>A (p.Ile3028=)
c.8955T>A (p.Ile2985=)
c.8946T>A (p.Ile2982=)
c.8442T>A (p.Ile2814=)
c.8373T>A (p.Ile2791=)
c.3159T>A (p.Ile1053=)
c.9009T>A (p.Ile3003=)
c.8889T>A (p.Ile2963=)
c.8820T>A (p.Ile2940=)
c.7224T>A (p.Ile2408=)
n.9360T>A
6g.51748533A>CCA364423933PKHD1c.9083T>G (p.Ile3028Ser)
c.8954T>G (p.Ile2985Ser)
c.8945T>G (p.Ile2982Ser)
c.8441T>G (p.Ile2814Ser)
c.8372T>G (p.Ile2791Ser)
c.3158T>G (p.Ile1053Ser)
c.9008T>G (p.Ile3003Ser)
c.8888T>G (p.Ile2963Ser)
c.8819T>G (p.Ile2940Ser)
c.7223T>G (p.Ile2408Ser)
n.9359T>G
6g.51748533A>GCA364423934PKHD1c.9083T>C (p.Ile3028Thr)
c.8954T>C (p.Ile2985Thr)
c.8945T>C (p.Ile2982Thr)
c.8441T>C (p.Ile2814Thr)
c.8372T>C (p.Ile2791Thr)
c.3158T>C (p.Ile1053Thr)
c.9008T>C (p.Ile3003Thr)
c.8888T>C (p.Ile2963Thr)
c.8819T>C (p.Ile2940Thr)
c.7223T>C (p.Ile2408Thr)
n.9359T>C
6g.51748533A>TCA364423937PKHD1c.9083T>A (p.Ile3028Asn)
c.8954T>A (p.Ile2985Asn)
c.8945T>A (p.Ile2982Asn)
c.8441T>A (p.Ile2814Asn)
c.8372T>A (p.Ile2791Asn)
c.3158T>A (p.Ile1053Asn)
c.9008T>A (p.Ile3003Asn)
c.8888T>A (p.Ile2963Asn)
c.8819T>A (p.Ile2940Asn)
c.7223T>A (p.Ile2408Asn)
n.9359T>A
6g.51748534T>ACA364423941PKHD1c.9082A>T (p.Ile3028Phe)
c.8953A>T (p.Ile2985Phe)
c.8944A>T (p.Ile2982Phe)
c.8440A>T (p.Ile2814Phe)
c.8371A>T (p.Ile2791Phe)
c.3157A>T (p.Ile1053Phe)
c.9007A>T (p.Ile3003Phe)
c.8887A>T (p.Ile2963Phe)
c.8818A>T (p.Ile2940Phe)
c.7222A>T (p.Ile2408Phe)
n.9358A>T
6g.51748534T>CCA364423944PKHD1c.9082A>G (p.Ile3028Val)
c.8953A>G (p.Ile2985Val)
c.8944A>G (p.Ile2982Val)
c.8440A>G (p.Ile2814Val)
c.8371A>G (p.Ile2791Val)
c.3157A>G (p.Ile1053Val)
c.9007A>G (p.Ile3003Val)
c.8887A>G (p.Ile2963Val)
c.8818A>G (p.Ile2940Val)
c.7222A>G (p.Ile2408Val)
n.9358A>G
6g.51748534T>GCA138896699PKHD1c.9082A>C (p.Ile3028Leu)
c.8953A>C (p.Ile2985Leu)
c.8944A>C (p.Ile2982Leu)
c.8440A>C (p.Ile2814Leu)
c.8371A>C (p.Ile2791Leu)
c.3157A>C (p.Ile1053Leu)
c.9007A>C (p.Ile3003Leu)
c.8887A>C (p.Ile2963Leu)
c.8818A>C (p.Ile2940Leu)
c.7222A>C (p.Ile2408Leu)
n.9358A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748534T=CA1628503672PKHD1c.9082A= (p.Ile3028=)
c.8953A= (p.Ile2985=)
c.8944A= (p.Ile2982=)
c.8440A= (p.Ile2814=)
c.8371A= (p.Ile2791=)
c.3157A= (p.Ile1053=)
c.9007A= (p.Ile3003=)
c.8887A= (p.Ile2963=)
c.8818A= (p.Ile2940=)
c.7222A= (p.Ile2408=)
n.9358A=
6g.51748534_51748535dupCA2697553463PKHD1c.9081_9082dup (p.Ile3028ThrfsTer12)
c.8952_8953dup (p.Ile2985ThrfsTer12)
c.8943_8944dup (p.Ile2982ThrfsTer12)
c.8439_8440dup (p.Ile2814ThrfsTer12)
c.8370_8371dup (p.Ile2791ThrfsTer12)
c.3156_3157dup (p.Ile1053ThrfsTer12)
c.9006_9007dup (p.Ile3003ThrfsTer12)
c.8886_8887dup (p.Ile2963ThrfsTer12)
c.8817_8818dup (p.Ile2940ThrfsTer12)
c.7221_7222dup (p.Ile2408ThrfsTer12)
n.9357_9358dup
 ClinVar
6g.51748535G>ACA450613810PKHD1c.9081C>T (p.Gly3027=)
c.8952C>T (p.Gly2984=)
c.8943C>T (p.Gly2981=)
c.8439C>T (p.Gly2813=)
c.8370C>T (p.Gly2790=)
c.3156C>T (p.Gly1052=)
c.9006C>T (p.Gly3002=)
c.8886C>T (p.Gly2962=)
c.8817C>T (p.Gly2939=)
c.7221C>T (p.Gly2407=)
n.9357C>T
6g.51748535G>CCA450613811PKHD1c.9081C>G (p.Gly3027=)
c.8952C>G (p.Gly2984=)
c.8943C>G (p.Gly2981=)
c.8439C>G (p.Gly2813=)
c.8370C>G (p.Gly2790=)
c.3156C>G (p.Gly1052=)
c.9006C>G (p.Gly3002=)
c.8886C>G (p.Gly2962=)
c.8817C>G (p.Gly2939=)
c.7221C>G (p.Gly2407=)
n.9357C>G
6g.51748535G>TCA450613812PKHD1c.9081C>A (p.Gly3027=)
c.8952C>A (p.Gly2984=)
c.8943C>A (p.Gly2981=)
c.8439C>A (p.Gly2813=)
c.8370C>A (p.Gly2790=)
c.3156C>A (p.Gly1052=)
c.9006C>A (p.Gly3002=)
c.8886C>A (p.Gly2962=)
c.8817C>A (p.Gly2939=)
c.7221C>A (p.Gly2407=)
n.9357C>A
6g.51748536C>ACA364423946PKHD1c.9080G>T (p.Gly3027Val)
c.8951G>T (p.Gly2984Val)
c.8942G>T (p.Gly2981Val)
c.8438G>T (p.Gly2813Val)
c.8369G>T (p.Gly2790Val)
c.3155G>T (p.Gly1052Val)
c.9005G>T (p.Gly3002Val)
c.8885G>T (p.Gly2962Val)
c.8816G>T (p.Gly2939Val)
c.7220G>T (p.Gly2407Val)
n.9356G>T
6g.51748536C>GCA364423948PKHD1c.9080G>C (p.Gly3027Ala)
c.8951G>C (p.Gly2984Ala)
c.8942G>C (p.Gly2981Ala)
c.8438G>C (p.Gly2813Ala)
c.8369G>C (p.Gly2790Ala)
c.3155G>C (p.Gly1052Ala)
c.9005G>C (p.Gly3002Ala)
c.8885G>C (p.Gly2962Ala)
c.8816G>C (p.Gly2939Ala)
c.7220G>C (p.Gly2407Ala)
n.9356G>C
6g.51748536C>TCA364423950PKHD1c.9080G>A (p.Gly3027Asp)
c.8951G>A (p.Gly2984Asp)
c.8942G>A (p.Gly2981Asp)
c.8438G>A (p.Gly2813Asp)
c.8369G>A (p.Gly2790Asp)
c.3155G>A (p.Gly1052Asp)
c.9005G>A (p.Gly3002Asp)
c.8885G>A (p.Gly2962Asp)
c.8816G>A (p.Gly2939Asp)
c.7220G>A (p.Gly2407Asp)
n.9356G>A
 gnomAD v4 COSMIC COSMIC
6g.51748537C>ACA364423953PKHD1c.9079G>T (p.Gly3027Cys)
c.8950G>T (p.Gly2984Cys)
c.8941G>T (p.Gly2981Cys)
c.8437G>T (p.Gly2813Cys)
c.8368G>T (p.Gly2790Cys)
c.3154G>T (p.Gly1052Cys)
c.9004G>T (p.Gly3002Cys)
c.8884G>T (p.Gly2962Cys)
c.8815G>T (p.Gly2939Cys)
c.7219G>T (p.Gly2407Cys)
n.9355G>T
6g.51748537C>GCA364423955PKHD1c.9079G>C (p.Gly3027Arg)
c.8950G>C (p.Gly2984Arg)
c.8941G>C (p.Gly2981Arg)
c.8437G>C (p.Gly2813Arg)
c.8368G>C (p.Gly2790Arg)
c.3154G>C (p.Gly1052Arg)
c.9004G>C (p.Gly3002Arg)
c.8884G>C (p.Gly2962Arg)
c.8815G>C (p.Gly2939Arg)
c.7219G>C (p.Gly2407Arg)
n.9355G>C
6g.51748537C>TCA364423958PKHD1c.9079G>A (p.Gly3027Ser)
c.8950G>A (p.Gly2984Ser)
c.8941G>A (p.Gly2981Ser)
c.8437G>A (p.Gly2813Ser)
c.8368G>A (p.Gly2790Ser)
c.3154G>A (p.Gly1052Ser)
c.9004G>A (p.Gly3002Ser)
c.8884G>A (p.Gly2962Ser)
c.8815G>A (p.Gly2939Ser)
c.7219G>A (p.Gly2407Ser)
n.9355G>A
 COSMIC COSMIC
6g.51748538C>ACA450613814PKHD1c.9078G>T (p.Gly3026=)
c.8949G>T (p.Gly2983=)
c.8940G>T (p.Gly2980=)
c.8436G>T (p.Gly2812=)
c.8367G>T (p.Gly2789=)
c.3153G>T (p.Gly1051=)
c.9003G>T (p.Gly3001=)
c.8883G>T (p.Gly2961=)
c.8814G>T (p.Gly2938=)
c.7218G>T (p.Gly2406=)
n.9354G>T
 dbSNP gnomAD v2 gnomAD v4
6g.51748538C=CA1628503686PKHD1c.9078G= (p.Gly3026=)
c.8949G= (p.Gly2983=)
c.8940G= (p.Gly2980=)
c.8436G= (p.Gly2812=)
c.8367G= (p.Gly2789=)
c.3153G= (p.Gly1051=)
c.9003G= (p.Gly3001=)
c.8883G= (p.Gly2961=)
c.8814G= (p.Gly2938=)
c.7218G= (p.Gly2406=)
n.9354G=
6g.51748538C>GCA450613816PKHD1c.9078G>C (p.Gly3026=)
c.8949G>C (p.Gly2983=)
c.8940G>C (p.Gly2980=)
c.8436G>C (p.Gly2812=)
c.8367G>C (p.Gly2789=)
c.3153G>C (p.Gly1051=)
c.9003G>C (p.Gly3001=)
c.8883G>C (p.Gly2961=)
c.8814G>C (p.Gly2938=)
c.7218G>C (p.Gly2406=)
n.9354G>C
6g.51748538C>TCA450613815PKHD1c.9078G>A (p.Gly3026=)
c.8949G>A (p.Gly2983=)
c.8940G>A (p.Gly2980=)
c.8436G>A (p.Gly2812=)
c.8367G>A (p.Gly2789=)
c.3153G>A (p.Gly1051=)
c.9003G>A (p.Gly3001=)
c.8883G>A (p.Gly2961=)
c.8814G>A (p.Gly2938=)
c.7218G>A (p.Gly2406=)
n.9354G>A
6g.51748539C>ACA364423960PKHD1c.9077G>T (p.Gly3026Val)
c.8948G>T (p.Gly2983Val)
c.8939G>T (p.Gly2980Val)
c.8435G>T (p.Gly2812Val)
c.8366G>T (p.Gly2789Val)
c.3152G>T (p.Gly1051Val)
c.9002G>T (p.Gly3001Val)
c.8882G>T (p.Gly2961Val)
c.8813G>T (p.Gly2938Val)
c.7217G>T (p.Gly2406Val)
n.9353G>T
 ClinVar dbSNP gnomAD v4
6g.51748539C=CA1628503691PKHD1c.9077G= (p.Gly3026=)
c.8948G= (p.Gly2983=)
c.8939G= (p.Gly2980=)
c.8435G= (p.Gly2812=)
c.8366G= (p.Gly2789=)
c.3152G= (p.Gly1051=)
c.9002G= (p.Gly3001=)
c.8882G= (p.Gly2961=)
c.8813G= (p.Gly2938=)
c.7217G= (p.Gly2406=)
n.9353G=
6g.51748539C>GCA364423963PKHD1c.9077G>C (p.Gly3026Ala)
c.8948G>C (p.Gly2983Ala)
c.8939G>C (p.Gly2980Ala)
c.8435G>C (p.Gly2812Ala)
c.8366G>C (p.Gly2789Ala)
c.3152G>C (p.Gly1051Ala)
c.9002G>C (p.Gly3001Ala)
c.8882G>C (p.Gly2961Ala)
c.8813G>C (p.Gly2938Ala)
c.7217G>C (p.Gly2406Ala)
n.9353G>C
6g.51748539C>TCA364423962PKHD1c.9077G>A (p.Gly3026Glu)
c.8948G>A (p.Gly2983Glu)
c.8939G>A (p.Gly2980Glu)
c.8435G>A (p.Gly2812Glu)
c.8366G>A (p.Gly2789Glu)
c.3152G>A (p.Gly1051Glu)
c.9002G>A (p.Gly3001Glu)
c.8882G>A (p.Gly2961Glu)
c.8813G>A (p.Gly2938Glu)
c.7217G>A (p.Gly2406Glu)
n.9353G>A
6g.51748540C>ACA364423966PKHD1c.9076G>T (p.Gly3026Trp)
c.8947G>T (p.Gly2983Trp)
c.8938G>T (p.Gly2980Trp)
c.8434G>T (p.Gly2812Trp)
c.8365G>T (p.Gly2789Trp)
c.3151G>T (p.Gly1051Trp)
c.9001G>T (p.Gly3001Trp)
c.8881G>T (p.Gly2961Trp)
c.8812G>T (p.Gly2938Trp)
c.7216G>T (p.Gly2406Trp)
n.9352G>T
6g.51748540C=CA1628503700PKHD1c.9076G= (p.Gly3026=)
c.8947G= (p.Gly2983=)
c.8938G= (p.Gly2980=)
c.8434G= (p.Gly2812=)
c.8365G= (p.Gly2789=)
c.3151G= (p.Gly1051=)
c.9001G= (p.Gly3001=)
c.8881G= (p.Gly2961=)
c.8812G= (p.Gly2938=)
c.7216G= (p.Gly2406=)
n.9352G=
6g.51748540C>GCA364423968PKHD1c.9076G>C (p.Gly3026Arg)
c.8947G>C (p.Gly2983Arg)
c.8938G>C (p.Gly2980Arg)
c.8434G>C (p.Gly2812Arg)
c.8365G>C (p.Gly2789Arg)
c.3151G>C (p.Gly1051Arg)
c.9001G>C (p.Gly3001Arg)
c.8881G>C (p.Gly2961Arg)
c.8812G>C (p.Gly2938Arg)
c.7216G>C (p.Gly2406Arg)
n.9352G>C
6g.51748540C>TCA3851452PKHD1c.9076G>A (p.Gly3026Arg)
c.8947G>A (p.Gly2983Arg)
c.8938G>A (p.Gly2980Arg)
c.8434G>A (p.Gly2812Arg)
c.8365G>A (p.Gly2789Arg)
c.3151G>A (p.Gly1051Arg)
c.9001G>A (p.Gly3001Arg)
c.8881G>A (p.Gly2961Arg)
c.8812G>A (p.Gly2938Arg)
c.7216G>A (p.Gly2406Arg)
n.9352G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748541G>ACA3851453PKHD1c.9075C>T (p.Gly3025=)
c.8946C>T (p.Gly2982=)
c.8937C>T (p.Gly2979=)
c.8433C>T (p.Gly2811=)
c.8364C>T (p.Gly2788=)
c.3150C>T (p.Gly1050=)
c.9000C>T (p.Gly3000=)
c.8880C>T (p.Gly2960=)
c.8811C>T (p.Gly2937=)
c.7215C>T (p.Gly2405=)
n.9351C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51748541G>CCA450613820PKHD1c.9075C>G (p.Gly3025=)
c.8946C>G (p.Gly2982=)
c.8937C>G (p.Gly2979=)
c.8433C>G (p.Gly2811=)
c.8364C>G (p.Gly2788=)
c.3150C>G (p.Gly1050=)
c.9000C>G (p.Gly3000=)
c.8880C>G (p.Gly2960=)
c.8811C>G (p.Gly2937=)
c.7215C>G (p.Gly2405=)
n.9351C>G
6g.51748541G=CA1628503710PKHD1c.9075C= (p.Gly3025=)
c.8946C= (p.Gly2982=)
c.8937C= (p.Gly2979=)
c.8433C= (p.Gly2811=)
c.8364C= (p.Gly2788=)
c.3150C= (p.Gly1050=)
c.9000C= (p.Gly3000=)
c.8880C= (p.Gly2960=)
c.8811C= (p.Gly2937=)
c.7215C= (p.Gly2405=)
n.9351C=
6g.51748541G>TCA450613821PKHD1c.9075C>A (p.Gly3025=)
c.8946C>A (p.Gly2982=)
c.8937C>A (p.Gly2979=)
c.8433C>A (p.Gly2811=)
c.8364C>A (p.Gly2788=)
c.3150C>A (p.Gly1050=)
c.9000C>A (p.Gly3000=)
c.8880C>A (p.Gly2960=)
c.8811C>A (p.Gly2937=)
c.7215C>A (p.Gly2405=)
n.9351C>A
6g.51748542C>ACA364423976PKHD1c.9074G>T (p.Gly3025Val)
c.8945G>T (p.Gly2982Val)
c.8936G>T (p.Gly2979Val)
c.8432G>T (p.Gly2811Val)
c.8363G>T (p.Gly2788Val)
c.3149G>T (p.Gly1050Val)
c.8999G>T (p.Gly3000Val)
c.8879G>T (p.Gly2960Val)
c.8810G>T (p.Gly2937Val)
c.7214G>T (p.Gly2405Val)
n.9350G>T
6g.51748542C>GCA364423983PKHD1c.9074G>C (p.Gly3025Ala)
c.8945G>C (p.Gly2982Ala)
c.8936G>C (p.Gly2979Ala)
c.8432G>C (p.Gly2811Ala)
c.8363G>C (p.Gly2788Ala)
c.3149G>C (p.Gly1050Ala)
c.8999G>C (p.Gly3000Ala)
c.8879G>C (p.Gly2960Ala)
c.8810G>C (p.Gly2937Ala)
c.7214G>C (p.Gly2405Ala)
n.9350G>C
6g.51748542C>TCA364423980PKHD1c.9074G>A (p.Gly3025Asp)
c.8945G>A (p.Gly2982Asp)
c.8936G>A (p.Gly2979Asp)
c.8432G>A (p.Gly2811Asp)
c.8363G>A (p.Gly2788Asp)
c.3149G>A (p.Gly1050Asp)
c.8999G>A (p.Gly3000Asp)
c.8879G>A (p.Gly2960Asp)
c.8810G>A (p.Gly2937Asp)
c.7214G>A (p.Gly2405Asp)
n.9350G>A
6g.51748543C>ACA364423986PKHD1c.9073G>T (p.Gly3025Cys)
c.8944G>T (p.Gly2982Cys)
c.8935G>T (p.Gly2979Cys)
c.8431G>T (p.Gly2811Cys)
c.8362G>T (p.Gly2788Cys)
c.3148G>T (p.Gly1050Cys)
c.8998G>T (p.Gly3000Cys)
c.8878G>T (p.Gly2960Cys)
c.8809G>T (p.Gly2937Cys)
c.7213G>T (p.Gly2405Cys)
n.9349G>T
6g.51748543C>GCA364423988PKHD1c.9073G>C (p.Gly3025Arg)
c.8944G>C (p.Gly2982Arg)
c.8935G>C (p.Gly2979Arg)
c.8431G>C (p.Gly2811Arg)
c.8362G>C (p.Gly2788Arg)
c.3148G>C (p.Gly1050Arg)
c.8998G>C (p.Gly3000Arg)
c.8878G>C (p.Gly2960Arg)
c.8809G>C (p.Gly2937Arg)
c.7213G>C (p.Gly2405Arg)
n.9349G>C
6g.51748543C>TCA364423987PKHD1c.9073G>A (p.Gly3025Ser)
c.8944G>A (p.Gly2982Ser)
c.8935G>A (p.Gly2979Ser)
c.8431G>A (p.Gly2811Ser)
c.8362G>A (p.Gly2788Ser)
c.3148G>A (p.Gly1050Ser)
c.8998G>A (p.Gly3000Ser)
c.8878G>A (p.Gly2960Ser)
c.8809G>A (p.Gly2937Ser)
c.7213G>A (p.Gly2405Ser)
n.9349G>A
6g.51748544A>CCA364423989PKHD1c.9072T>G (p.Cys3024Trp)
c.8943T>G (p.Cys2981Trp)
c.8934T>G (p.Cys2978Trp)
c.8430T>G (p.Cys2810Trp)
c.8361T>G (p.Cys2787Trp)
c.3147T>G (p.Cys1049Trp)
c.8997T>G (p.Cys2999Trp)
c.8877T>G (p.Cys2959Trp)
c.8808T>G (p.Cys2936Trp)
c.7212T>G (p.Cys2404Trp)
n.9348T>G
6g.51748544A>GCA450613822PKHD1c.9072T>C (p.Cys3024=)
c.8943T>C (p.Cys2981=)
c.8934T>C (p.Cys2978=)
c.8430T>C (p.Cys2810=)
c.8361T>C (p.Cys2787=)
c.3147T>C (p.Cys1049=)
c.8997T>C (p.Cys2999=)
c.8877T>C (p.Cys2959=)
c.8808T>C (p.Cys2936=)
c.7212T>C (p.Cys2404=)
n.9348T>C
 ClinVar COSMIC COSMIC
6g.51748544A>TCA364423990PKHD1c.9072T>A (p.Cys3024Ter)
c.8943T>A (p.Cys2981Ter)
c.8934T>A (p.Cys2978Ter)
c.8430T>A (p.Cys2810Ter)
c.8361T>A (p.Cys2787Ter)
c.3147T>A (p.Cys1049Ter)
c.8997T>A (p.Cys2999Ter)
c.8877T>A (p.Cys2959Ter)
c.8808T>A (p.Cys2936Ter)
c.7212T>A (p.Cys2404Ter)
n.9348T>A
6g.51748545C>ACA364423993PKHD1c.9071G>T (p.Cys3024Phe)
c.8942G>T (p.Cys2981Phe)
c.8933G>T (p.Cys2978Phe)
c.8429G>T (p.Cys2810Phe)
c.8360G>T (p.Cys2787Phe)
c.3146G>T (p.Cys1049Phe)
c.8996G>T (p.Cys2999Phe)
c.8876G>T (p.Cys2959Phe)
c.8807G>T (p.Cys2936Phe)
c.7211G>T (p.Cys2404Phe)
n.9347G>T
 dbSNP gnomAD v2
6g.51748545C=CA1628503714PKHD1c.9071G= (p.Cys3024=)
c.8942G= (p.Cys2981=)
c.8933G= (p.Cys2978=)
c.8429G= (p.Cys2810=)
c.8360G= (p.Cys2787=)
c.3146G= (p.Cys1049=)
c.8996G= (p.Cys2999=)
c.8876G= (p.Cys2959=)
c.8807G= (p.Cys2936=)
c.7211G= (p.Cys2404=)
n.9347G=
6g.51748545C>GCA364423995PKHD1c.9071G>C (p.Cys3024Ser)
c.8942G>C (p.Cys2981Ser)
c.8933G>C (p.Cys2978Ser)
c.8429G>C (p.Cys2810Ser)
c.8360G>C (p.Cys2787Ser)
c.3146G>C (p.Cys1049Ser)
c.8996G>C (p.Cys2999Ser)
c.8876G>C (p.Cys2959Ser)
c.8807G>C (p.Cys2936Ser)
c.7211G>C (p.Cys2404Ser)
n.9347G>C
6g.51748545C>TCA364423998PKHD1c.9071G>A (p.Cys3024Tyr)
c.8942G>A (p.Cys2981Tyr)
c.8933G>A (p.Cys2978Tyr)
c.8429G>A (p.Cys2810Tyr)
c.8360G>A (p.Cys2787Tyr)
c.3146G>A (p.Cys1049Tyr)
c.8996G>A (p.Cys2999Tyr)
c.8876G>A (p.Cys2959Tyr)
c.8807G>A (p.Cys2936Tyr)
c.7211G>A (p.Cys2404Tyr)
n.9347G>A
 ClinVar dbSNP
6g.51748546A>CCA364424002PKHD1c.9070T>G (p.Cys3024Gly)
c.8941T>G (p.Cys2981Gly)
c.8932T>G (p.Cys2978Gly)
c.8428T>G (p.Cys2810Gly)
c.8359T>G (p.Cys2787Gly)
c.3145T>G (p.Cys1049Gly)
c.8995T>G (p.Cys2999Gly)
c.8875T>G (p.Cys2959Gly)
c.8806T>G (p.Cys2936Gly)
c.7210T>G (p.Cys2404Gly)
n.9346T>G
6g.51748546A>GCA364424003PKHD1c.9070T>C (p.Cys3024Arg)
c.8941T>C (p.Cys2981Arg)
c.8932T>C (p.Cys2978Arg)
c.8428T>C (p.Cys2810Arg)
c.8359T>C (p.Cys2787Arg)
c.3145T>C (p.Cys1049Arg)
c.8995T>C (p.Cys2999Arg)
c.8875T>C (p.Cys2959Arg)
c.8806T>C (p.Cys2936Arg)
c.7210T>C (p.Cys2404Arg)
n.9346T>C
6g.51748546A>TCA364424005PKHD1c.9070T>A (p.Cys3024Ser)
c.8941T>A (p.Cys2981Ser)
c.8932T>A (p.Cys2978Ser)
c.8428T>A (p.Cys2810Ser)
c.8359T>A (p.Cys2787Ser)
c.3145T>A (p.Cys1049Ser)
c.8995T>A (p.Cys2999Ser)
c.8875T>A (p.Cys2959Ser)
c.8806T>A (p.Cys2936Ser)
c.7210T>A (p.Cys2404Ser)
n.9346T>A
6g.51748546dupCA2499218344PKHD1c.9070dup (p.Cys3024LeufsTer17)
c.8941dup (p.Cys2981LeufsTer17)
c.8932dup (p.Cys2978LeufsTer17)
c.8428dup (p.Cys2810LeufsTer17)
c.8359dup (p.Cys2787LeufsTer17)
c.3145dup (p.Cys1049LeufsTer17)
c.8995dup (p.Cys2999LeufsTer17)
c.8875dup (p.Cys2959LeufsTer17)
c.8806dup (p.Cys2936LeufsTer17)
c.7210dup (p.Cys2404LeufsTer17)
n.9346dup
 ClinVar dbSNP
6g.51748547G>ACA450613824PKHD1c.9069C>T (p.Ser3023=)
c.8940C>T (p.Ser2980=)
c.8931C>T (p.Ser2977=)
c.8427C>T (p.Ser2809=)
c.8358C>T (p.Ser2786=)
c.3144C>T (p.Ser1048=)
c.8994C>T (p.Ser2998=)
c.8874C>T (p.Ser2958=)
c.8805C>T (p.Ser2935=)
c.7209C>T (p.Ser2403=)
n.9345C>T
 ClinVar dbSNP gnomAD v4
6g.51748547G>CCA364424009PKHD1c.9069C>G (p.Ser3023Arg)
c.8940C>G (p.Ser2980Arg)
c.8931C>G (p.Ser2977Arg)
c.8427C>G (p.Ser2809Arg)
c.8358C>G (p.Ser2786Arg)
c.3144C>G (p.Ser1048Arg)
c.8994C>G (p.Ser2998Arg)
c.8874C>G (p.Ser2958Arg)
c.8805C>G (p.Ser2935Arg)
c.7209C>G (p.Ser2403Arg)
n.9345C>G
6g.51748547G=CA1628503722PKHD1c.9069C= (p.Ser3023=)
c.8940C= (p.Ser2980=)
c.8931C= (p.Ser2977=)
c.8427C= (p.Ser2809=)
c.8358C= (p.Ser2786=)
c.3144C= (p.Ser1048=)
c.8994C= (p.Ser2998=)
c.8874C= (p.Ser2958=)
c.8805C= (p.Ser2935=)
c.7209C= (p.Ser2403=)
n.9345C=
6g.51748547G>TCA364424012PKHD1c.9069C>A (p.Ser3023Arg)
c.8940C>A (p.Ser2980Arg)
c.8931C>A (p.Ser2977Arg)
c.8427C>A (p.Ser2809Arg)
c.8358C>A (p.Ser2786Arg)
c.3144C>A (p.Ser1048Arg)
c.8994C>A (p.Ser2998Arg)
c.8874C>A (p.Ser2958Arg)
c.8805C>A (p.Ser2935Arg)
c.7209C>A (p.Ser2403Arg)
n.9345C>A
 gnomAD v4
6g.51748548C>ACA364424017PKHD1c.9068G>T (p.Ser3023Ile)
c.8939G>T (p.Ser2980Ile)
c.8930G>T (p.Ser2977Ile)
c.8426G>T (p.Ser2809Ile)
c.8357G>T (p.Ser2786Ile)
c.3143G>T (p.Ser1048Ile)
c.8993G>T (p.Ser2998Ile)
c.8873G>T (p.Ser2958Ile)
c.8804G>T (p.Ser2935Ile)
c.7208G>T (p.Ser2403Ile)
n.9344G>T
 gnomAD v4
6g.51748548C>GCA364424020PKHD1c.9068G>C (p.Ser3023Thr)
c.8939G>C (p.Ser2980Thr)
c.8930G>C (p.Ser2977Thr)
c.8426G>C (p.Ser2809Thr)
c.8357G>C (p.Ser2786Thr)
c.3143G>C (p.Ser1048Thr)
c.8993G>C (p.Ser2998Thr)
c.8873G>C (p.Ser2958Thr)
c.8804G>C (p.Ser2935Thr)
c.7208G>C (p.Ser2403Thr)
n.9344G>C
6g.51748548C>TCA364424025PKHD1c.9068G>A (p.Ser3023Asn)
c.8939G>A (p.Ser2980Asn)
c.8930G>A (p.Ser2977Asn)
c.8426G>A (p.Ser2809Asn)
c.8357G>A (p.Ser2786Asn)
c.3143G>A (p.Ser1048Asn)
c.8993G>A (p.Ser2998Asn)
c.8873G>A (p.Ser2958Asn)
c.8804G>A (p.Ser2935Asn)
c.7208G>A (p.Ser2403Asn)
n.9344G>A
 gnomAD v4
6g.51748549T>ACA364424028PKHD1c.9067A>T (p.Ser3023Cys)
c.8938A>T (p.Ser2980Cys)
c.8929A>T (p.Ser2977Cys)
c.8425A>T (p.Ser2809Cys)
c.8356A>T (p.Ser2786Cys)
c.3142A>T (p.Ser1048Cys)
c.8992A>T (p.Ser2998Cys)
c.8872A>T (p.Ser2958Cys)
c.8803A>T (p.Ser2935Cys)
c.7207A>T (p.Ser2403Cys)
n.9343A>T
6g.51748549T>CCA364424033PKHD1c.9067A>G (p.Ser3023Gly)
c.8938A>G (p.Ser2980Gly)
c.8929A>G (p.Ser2977Gly)
c.8425A>G (p.Ser2809Gly)
c.8356A>G (p.Ser2786Gly)
c.3142A>G (p.Ser1048Gly)
c.8992A>G (p.Ser2998Gly)
c.8872A>G (p.Ser2958Gly)
c.8803A>G (p.Ser2935Gly)
c.7207A>G (p.Ser2403Gly)
n.9343A>G
6g.51748549T>GCA3851454PKHD1c.9067A>C (p.Ser3023Arg)
c.8938A>C (p.Ser2980Arg)
c.8929A>C (p.Ser2977Arg)
c.8425A>C (p.Ser2809Arg)
c.8356A>C (p.Ser2786Arg)
c.3142A>C (p.Ser1048Arg)
c.8992A>C (p.Ser2998Arg)
c.8872A>C (p.Ser2958Arg)
c.8803A>C (p.Ser2935Arg)
c.7207A>C (p.Ser2403Arg)
n.9343A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748549T=CA1628503725PKHD1c.9067A= (p.Ser3023=)
c.8938A= (p.Ser2980=)
c.8929A= (p.Ser2977=)
c.8425A= (p.Ser2809=)
c.8356A= (p.Ser2786=)
c.3142A= (p.Ser1048=)
c.8992A= (p.Ser2998=)
c.8872A= (p.Ser2958=)
c.8803A= (p.Ser2935=)
c.7207A= (p.Ser2403=)
n.9343A=
6g.51748550C>ACA364424035PKHD1c.9066G>T (p.Gln3022His)
c.8937G>T (p.Gln2979His)
c.8928G>T (p.Gln2976His)
c.8424G>T (p.Gln2808His)
c.8355G>T (p.Gln2785His)
c.3141G>T (p.Gln1047His)
c.8991G>T (p.Gln2997His)
c.8871G>T (p.Gln2957His)
c.8802G>T (p.Gln2934His)
c.7206G>T (p.Gln2402His)
n.9342G>T
6g.51748550C>GCA364424036PKHD1c.9066G>C (p.Gln3022His)
c.8937G>C (p.Gln2979His)
c.8928G>C (p.Gln2976His)
c.8424G>C (p.Gln2808His)
c.8355G>C (p.Gln2785His)
c.3141G>C (p.Gln1047His)
c.8991G>C (p.Gln2997His)
c.8871G>C (p.Gln2957His)
c.8802G>C (p.Gln2934His)
c.7206G>C (p.Gln2402His)
n.9342G>C
6g.51748550C>TCA450613828PKHD1c.9066G>A (p.Gln3022=)
c.8937G>A (p.Gln2979=)
c.8928G>A (p.Gln2976=)
c.8424G>A (p.Gln2808=)
c.8355G>A (p.Gln2785=)
c.3141G>A (p.Gln1047=)
c.8991G>A (p.Gln2997=)
c.8871G>A (p.Gln2957=)
c.8802G>A (p.Gln2934=)
c.7206G>A (p.Gln2402=)
n.9342G>A
 ClinVar dbSNP
6g.51748551T>ACA364424038PKHD1c.9065A>T (p.Gln3022Leu)
c.8936A>T (p.Gln2979Leu)
c.8927A>T (p.Gln2976Leu)
c.8423A>T (p.Gln2808Leu)
c.8354A>T (p.Gln2785Leu)
c.3140A>T (p.Gln1047Leu)
c.8990A>T (p.Gln2997Leu)
c.8870A>T (p.Gln2957Leu)
c.8801A>T (p.Gln2934Leu)
c.7205A>T (p.Gln2402Leu)
n.9341A>T
6g.51748551T>CCA364424041PKHD1c.9065A>G (p.Gln3022Arg)
c.8936A>G (p.Gln2979Arg)
c.8927A>G (p.Gln2976Arg)
c.8423A>G (p.Gln2808Arg)
c.8354A>G (p.Gln2785Arg)
c.3140A>G (p.Gln1047Arg)
c.8990A>G (p.Gln2997Arg)
c.8870A>G (p.Gln2957Arg)
c.8801A>G (p.Gln2934Arg)
c.7205A>G (p.Gln2402Arg)
n.9341A>G
6g.51748551T>GCA364424042PKHD1c.9065A>C (p.Gln3022Pro)
c.8936A>C (p.Gln2979Pro)
c.8927A>C (p.Gln2976Pro)
c.8423A>C (p.Gln2808Pro)
c.8354A>C (p.Gln2785Pro)
c.3140A>C (p.Gln1047Pro)
c.8990A>C (p.Gln2997Pro)
c.8870A>C (p.Gln2957Pro)
c.8801A>C (p.Gln2934Pro)
c.7205A>C (p.Gln2402Pro)
n.9341A>C
6g.51748552G>ACA364424045PKHD1c.9064C>T (p.Gln3022Ter)
c.8935C>T (p.Gln2979Ter)
c.8926C>T (p.Gln2976Ter)
c.8422C>T (p.Gln2808Ter)
c.8353C>T (p.Gln2785Ter)
c.3139C>T (p.Gln1047Ter)
c.8989C>T (p.Gln2997Ter)
c.8869C>T (p.Gln2957Ter)
c.8800C>T (p.Gln2934Ter)
c.7204C>T (p.Gln2402Ter)
n.9340C>T
6g.51748552G>CCA364424047PKHD1c.9064C>G (p.Gln3022Glu)
c.8935C>G (p.Gln2979Glu)
c.8926C>G (p.Gln2976Glu)
c.8422C>G (p.Gln2808Glu)
c.8353C>G (p.Gln2785Glu)
c.3139C>G (p.Gln1047Glu)
c.8989C>G (p.Gln2997Glu)
c.8869C>G (p.Gln2957Glu)
c.8800C>G (p.Gln2934Glu)
c.7204C>G (p.Gln2402Glu)
n.9340C>G
6g.51748552G>TCA364424048PKHD1c.9064C>A (p.Gln3022Lys)
c.8935C>A (p.Gln2979Lys)
c.8926C>A (p.Gln2976Lys)
c.8422C>A (p.Gln2808Lys)
c.8353C>A (p.Gln2785Lys)
c.3139C>A (p.Gln1047Lys)
c.8989C>A (p.Gln2997Lys)
c.8869C>A (p.Gln2957Lys)
c.8800C>A (p.Gln2934Lys)
c.7204C>A (p.Gln2402Lys)
n.9340C>A
6g.51748553G>ACA450613829PKHD1c.9063C>T (p.His3021=)
c.8934C>T (p.His2978=)
c.8925C>T (p.His2975=)
c.8421C>T (p.His2807=)
c.8352C>T (p.His2784=)
c.3138C>T (p.His1046=)
c.8988C>T (p.His2996=)
c.8868C>T (p.His2956=)
c.8799C>T (p.His2933=)
c.7203C>T (p.His2401=)
n.9339C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748553G>CCA364424050PKHD1c.9063C>G (p.His3021Gln)
c.8934C>G (p.His2978Gln)
c.8925C>G (p.His2975Gln)
c.8421C>G (p.His2807Gln)
c.8352C>G (p.His2784Gln)
c.3138C>G (p.His1046Gln)
c.8988C>G (p.His2996Gln)
c.8868C>G (p.His2956Gln)
c.8799C>G (p.His2933Gln)
c.7203C>G (p.His2401Gln)
n.9339C>G
6g.51748553G=CA1628503729PKHD1c.9063C= (p.His3021=)
c.8934C= (p.His2978=)
c.8925C= (p.His2975=)
c.8421C= (p.His2807=)
c.8352C= (p.His2784=)
c.3138C= (p.His1046=)
c.8988C= (p.His2996=)
c.8868C= (p.His2956=)
c.8799C= (p.His2933=)
c.7203C= (p.His2401=)
n.9339C=
6g.51748553G>TCA364424052PKHD1c.9063C>A (p.His3021Gln)
c.8934C>A (p.His2978Gln)
c.8925C>A (p.His2975Gln)
c.8421C>A (p.His2807Gln)
c.8352C>A (p.His2784Gln)
c.3138C>A (p.His1046Gln)
c.8988C>A (p.His2996Gln)
c.8868C>A (p.His2956Gln)
c.8799C>A (p.His2933Gln)
c.7203C>A (p.His2401Gln)
n.9339C>A
6g.51748554T>ACA364424056PKHD1c.9062A>T (p.His3021Leu)
c.8933A>T (p.His2978Leu)
c.8924A>T (p.His2975Leu)
c.8420A>T (p.His2807Leu)
c.8351A>T (p.His2784Leu)
c.3137A>T (p.His1046Leu)
c.8987A>T (p.His2996Leu)
c.8867A>T (p.His2956Leu)
c.8798A>T (p.His2933Leu)
c.7202A>T (p.His2401Leu)
n.9338A>T
6g.51748554T>CCA364424055PKHD1c.9062A>G (p.His3021Arg)
c.8933A>G (p.His2978Arg)
c.8924A>G (p.His2975Arg)
c.8420A>G (p.His2807Arg)
c.8351A>G (p.His2784Arg)
c.3137A>G (p.His1046Arg)
c.8987A>G (p.His2996Arg)
c.8867A>G (p.His2956Arg)
c.8798A>G (p.His2933Arg)
c.7202A>G (p.His2401Arg)
n.9338A>G
6g.51748554T>GCA364424053PKHD1c.9062A>C (p.His3021Pro)
c.8933A>C (p.His2978Pro)
c.8924A>C (p.His2975Pro)
c.8420A>C (p.His2807Pro)
c.8351A>C (p.His2784Pro)
c.3137A>C (p.His1046Pro)
c.8987A>C (p.His2996Pro)
c.8867A>C (p.His2956Pro)
c.8798A>C (p.His2933Pro)
c.7202A>C (p.His2401Pro)
n.9338A>C
 dbSNP gnomAD v4
6g.51748554T=CA1628503731PKHD1c.9062A= (p.His3021=)
c.8933A= (p.His2978=)
c.8924A= (p.His2975=)
c.8420A= (p.His2807=)
c.8351A= (p.His2784=)
c.3137A= (p.His1046=)
c.8987A= (p.His2996=)
c.8867A= (p.His2956=)
c.8798A= (p.His2933=)
c.7202A= (p.His2401=)
n.9338A=
6g.51748555G>ACA364424057PKHD1c.9061C>T (p.His3021Tyr)
c.8932C>T (p.His2978Tyr)
c.8923C>T (p.His2975Tyr)
c.8419C>T (p.His2807Tyr)
c.8350C>T (p.His2784Tyr)
c.3136C>T (p.His1046Tyr)
c.8986C>T (p.His2996Tyr)
c.8866C>T (p.His2956Tyr)
c.8797C>T (p.His2933Tyr)
c.7201C>T (p.His2401Tyr)
n.9337C>T
 dbSNP
6g.51748555G>CCA364424058PKHD1c.9061C>G (p.His3021Asp)
c.8932C>G (p.His2978Asp)
c.8923C>G (p.His2975Asp)
c.8419C>G (p.His2807Asp)
c.8350C>G (p.His2784Asp)
c.3136C>G (p.His1046Asp)
c.8986C>G (p.His2996Asp)
c.8866C>G (p.His2956Asp)
c.8797C>G (p.His2933Asp)
c.7201C>G (p.His2401Asp)
n.9337C>G
6g.51748555G=CA1628503737PKHD1c.9061C= (p.His3021=)
c.8932C= (p.His2978=)
c.8923C= (p.His2975=)
c.8419C= (p.His2807=)
c.8350C= (p.His2784=)
c.3136C= (p.His1046=)
c.8986C= (p.His2996=)
c.8866C= (p.His2956=)
c.8797C= (p.His2933=)
c.7201C= (p.His2401=)
n.9337C=
6g.51748555G>TCA364424059PKHD1c.9061C>A (p.His3021Asn)
c.8932C>A (p.His2978Asn)
c.8923C>A (p.His2975Asn)
c.8419C>A (p.His2807Asn)
c.8350C>A (p.His2784Asn)
c.3136C>A (p.His1046Asn)
c.8986C>A (p.His2996Asn)
c.8866C>A (p.His2956Asn)
c.8797C>A (p.His2933Asn)
c.7201C>A (p.His2401Asn)
n.9337C>A
6g.51748556C>ACA450613977PKHD1c.9060G>T (p.Leu3020=)
c.8931G>T (p.Leu2977=)
c.8922G>T (p.Leu2974=)
c.8418G>T (p.Leu2806=)
c.8349G>T (p.Leu2783=)
c.3135G>T (p.Leu1045=)
c.8985G>T (p.Leu2995=)
c.8865G>T (p.Leu2955=)
c.8796G>T (p.Leu2932=)
c.7200G>T (p.Leu2400=)
n.9336G>T
6g.51748556C>GCA450613978PKHD1c.9060G>C (p.Leu3020=)
c.8931G>C (p.Leu2977=)
c.8922G>C (p.Leu2974=)
c.8418G>C (p.Leu2806=)
c.8349G>C (p.Leu2783=)
c.3135G>C (p.Leu1045=)
c.8985G>C (p.Leu2995=)
c.8865G>C (p.Leu2955=)
c.8796G>C (p.Leu2932=)
c.7200G>C (p.Leu2400=)
n.9336G>C
6g.51748556C>TCA450613979PKHD1c.9060G>A (p.Leu3020=)
c.8931G>A (p.Leu2977=)
c.8922G>A (p.Leu2974=)
c.8418G>A (p.Leu2806=)
c.8349G>A (p.Leu2783=)
c.3135G>A (p.Leu1045=)
c.8985G>A (p.Leu2995=)
c.8865G>A (p.Leu2955=)
c.8796G>A (p.Leu2932=)
c.7200G>A (p.Leu2400=)
n.9336G>A
 ClinVar dbSNP
6g.51748557A=CA1628503742PKHD1c.9059T= (p.Leu3020=)
c.8930T= (p.Leu2977=)
c.8921T= (p.Leu2974=)
c.8417T= (p.Leu2806=)
c.8348T= (p.Leu2783=)
c.3134T= (p.Leu1045=)
c.8984T= (p.Leu2995=)
c.8864T= (p.Leu2955=)
c.8795T= (p.Leu2932=)
c.7199T= (p.Leu2400=)
n.9335T=
6g.51748557A>CCA364424060PKHD1c.9059T>G (p.Leu3020Arg)
c.8930T>G (p.Leu2977Arg)
c.8921T>G (p.Leu2974Arg)
c.8417T>G (p.Leu2806Arg)
c.8348T>G (p.Leu2783Arg)
c.3134T>G (p.Leu1045Arg)
c.8984T>G (p.Leu2995Arg)
c.8864T>G (p.Leu2955Arg)
c.8795T>G (p.Leu2932Arg)
c.7199T>G (p.Leu2400Arg)
n.9335T>G
 dbSNP gnomAD v2 gnomAD v4
6g.51748557A>GCA3851455PKHD1c.9059T>C (p.Leu3020Pro)
c.8930T>C (p.Leu2977Pro)
c.8921T>C (p.Leu2974Pro)
c.8417T>C (p.Leu2806Pro)
c.8348T>C (p.Leu2783Pro)
c.3134T>C (p.Leu1045Pro)
c.8984T>C (p.Leu2995Pro)
c.8864T>C (p.Leu2955Pro)
c.8795T>C (p.Leu2932Pro)
c.7199T>C (p.Leu2400Pro)
n.9335T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748557A>TCA364424061PKHD1c.9059T>A (p.Leu3020Gln)
c.8930T>A (p.Leu2977Gln)
c.8921T>A (p.Leu2974Gln)
c.8417T>A (p.Leu2806Gln)
c.8348T>A (p.Leu2783Gln)
c.3134T>A (p.Leu1045Gln)
c.8984T>A (p.Leu2995Gln)
c.8864T>A (p.Leu2955Gln)
c.8795T>A (p.Leu2932Gln)
c.7199T>A (p.Leu2400Gln)
n.9335T>A
6g.51748558G>ACA3851456PKHD1c.9058C>T (p.Leu3020=)
c.8929C>T (p.Leu2977=)
c.8920C>T (p.Leu2974=)
c.8416C>T (p.Leu2806=)
c.8347C>T (p.Leu2783=)
c.3133C>T (p.Leu1045=)
c.8983C>T (p.Leu2995=)
c.8863C>T (p.Leu2955=)
c.8794C>T (p.Leu2932=)
c.7198C>T (p.Leu2400=)
n.9334C>T
 ClinVar dbSNP ExAC gnomAD v2
6g.51748558G>CCA364424062PKHD1c.9058C>G (p.Leu3020Val)
c.8929C>G (p.Leu2977Val)
c.8920C>G (p.Leu2974Val)
c.8416C>G (p.Leu2806Val)
c.8347C>G (p.Leu2783Val)
c.3133C>G (p.Leu1045Val)
c.8983C>G (p.Leu2995Val)
c.8863C>G (p.Leu2955Val)
c.8794C>G (p.Leu2932Val)
c.7198C>G (p.Leu2400Val)
n.9334C>G
6g.51748558G=CA1628503751PKHD1c.9058C= (p.Leu3020=)
c.8929C= (p.Leu2977=)
c.8920C= (p.Leu2974=)
c.8416C= (p.Leu2806=)
c.8347C= (p.Leu2783=)
c.3133C= (p.Leu1045=)
c.8983C= (p.Leu2995=)
c.8863C= (p.Leu2955=)
c.8794C= (p.Leu2932=)
c.7198C= (p.Leu2400=)
n.9334C=
6g.51748558G>TCA364424063PKHD1c.9058C>A (p.Leu3020Met)
c.8929C>A (p.Leu2977Met)
c.8920C>A (p.Leu2974Met)
c.8416C>A (p.Leu2806Met)
c.8347C>A (p.Leu2783Met)
c.3133C>A (p.Leu1045Met)
c.8983C>A (p.Leu2995Met)
c.8863C>A (p.Leu2955Met)
c.8794C>A (p.Leu2932Met)
c.7198C>A (p.Leu2400Met)
n.9334C>A
6g.51748559A>CCA450613984PKHD1c.9057T>G (p.Thr3019=)
c.8928T>G (p.Thr2976=)
c.8919T>G (p.Thr2973=)
c.8415T>G (p.Thr2805=)
c.8346T>G (p.Thr2782=)
c.3132T>G (p.Thr1044=)
c.8982T>G (p.Thr2994=)
c.8862T>G (p.Thr2954=)
c.8793T>G (p.Thr2931=)
c.7197T>G (p.Thr2399=)
n.9333T>G
6g.51748559A>GCA450613986PKHD1c.9057T>C (p.Thr3019=)
c.8928T>C (p.Thr2976=)
c.8919T>C (p.Thr2973=)
c.8415T>C (p.Thr2805=)
c.8346T>C (p.Thr2782=)
c.3132T>C (p.Thr1044=)
c.8982T>C (p.Thr2994=)
c.8862T>C (p.Thr2954=)
c.8793T>C (p.Thr2931=)
c.7197T>C (p.Thr2399=)
n.9333T>C
6g.51748559A>TCA450613988PKHD1c.9057T>A (p.Thr3019=)
c.8928T>A (p.Thr2976=)
c.8919T>A (p.Thr2973=)
c.8415T>A (p.Thr2805=)
c.8346T>A (p.Thr2782=)
c.3132T>A (p.Thr1044=)
c.8982T>A (p.Thr2994=)
c.8862T>A (p.Thr2954=)
c.8793T>A (p.Thr2931=)
c.7197T>A (p.Thr2399=)
n.9333T>A
6g.51748560G>ACA364424064PKHD1c.9056C>T (p.Thr3019Ile)
c.8927C>T (p.Thr2976Ile)
c.8918C>T (p.Thr2973Ile)
c.8414C>T (p.Thr2805Ile)
c.8345C>T (p.Thr2782Ile)
c.3131C>T (p.Thr1044Ile)
c.8981C>T (p.Thr2994Ile)
c.8861C>T (p.Thr2954Ile)
c.8792C>T (p.Thr2931Ile)
c.7196C>T (p.Thr2399Ile)
n.9332C>T
6g.51748560G>CCA364424065PKHD1c.9056C>G (p.Thr3019Ser)
c.8927C>G (p.Thr2976Ser)
c.8918C>G (p.Thr2973Ser)
c.8414C>G (p.Thr2805Ser)
c.8345C>G (p.Thr2782Ser)
c.3131C>G (p.Thr1044Ser)
c.8981C>G (p.Thr2994Ser)
c.8861C>G (p.Thr2954Ser)
c.8792C>G (p.Thr2931Ser)
c.7196C>G (p.Thr2399Ser)
n.9332C>G
 gnomAD v4
6g.51748560G>TCA364424066PKHD1c.9056C>A (p.Thr3019Asn)
c.8927C>A (p.Thr2976Asn)
c.8918C>A (p.Thr2973Asn)
c.8414C>A (p.Thr2805Asn)
c.8345C>A (p.Thr2782Asn)
c.3131C>A (p.Thr1044Asn)
c.8981C>A (p.Thr2994Asn)
c.8861C>A (p.Thr2954Asn)
c.8792C>A (p.Thr2931Asn)
c.7196C>A (p.Thr2399Asn)
n.9332C>A
6g.51748561T>ACA364424068PKHD1c.9055A>T (p.Thr3019Ser)
c.8926A>T (p.Thr2976Ser)
c.8917A>T (p.Thr2973Ser)
c.8413A>T (p.Thr2805Ser)
c.8344A>T (p.Thr2782Ser)
c.3130A>T (p.Thr1044Ser)
c.8980A>T (p.Thr2994Ser)
c.8860A>T (p.Thr2954Ser)
c.8791A>T (p.Thr2931Ser)
c.7195A>T (p.Thr2399Ser)
n.9331A>T
6g.51748561T>CCA364424069PKHD1c.9055A>G (p.Thr3019Ala)
c.8926A>G (p.Thr2976Ala)
c.8917A>G (p.Thr2973Ala)
c.8413A>G (p.Thr2805Ala)
c.8344A>G (p.Thr2782Ala)
c.3130A>G (p.Thr1044Ala)
c.8980A>G (p.Thr2994Ala)
c.8860A>G (p.Thr2954Ala)
c.8791A>G (p.Thr2931Ala)
c.7195A>G (p.Thr2399Ala)
n.9331A>G
6g.51748561T>GCA364424067PKHD1c.9055A>C (p.Thr3019Pro)
c.8926A>C (p.Thr2976Pro)
c.8917A>C (p.Thr2973Pro)
c.8413A>C (p.Thr2805Pro)
c.8344A>C (p.Thr2782Pro)
c.3130A>C (p.Thr1044Pro)
c.8980A>C (p.Thr2994Pro)
c.8860A>C (p.Thr2954Pro)
c.8791A>C (p.Thr2931Pro)
c.7195A>C (p.Thr2399Pro)
n.9331A>C
6g.51748562A>CCA450613991PKHD1c.9054T>G (p.Ser3018=)
c.8925T>G (p.Ser2975=)
c.8916T>G (p.Ser2972=)
c.8412T>G (p.Ser2804=)
c.8343T>G (p.Ser2781=)
c.3129T>G (p.Ser1043=)
c.8979T>G (p.Ser2993=)
c.8859T>G (p.Ser2953=)
c.8790T>G (p.Ser2930=)
c.7194T>G (p.Ser2398=)
n.9330T>G
6g.51748562A>GCA450613992PKHD1c.9054T>C (p.Ser3018=)
c.8925T>C (p.Ser2975=)
c.8916T>C (p.Ser2972=)
c.8412T>C (p.Ser2804=)
c.8343T>C (p.Ser2781=)
c.3129T>C (p.Ser1043=)
c.8979T>C (p.Ser2993=)
c.8859T>C (p.Ser2953=)
c.8790T>C (p.Ser2930=)
c.7194T>C (p.Ser2398=)
n.9330T>C
6g.51748562A>TCA450613993PKHD1c.9054T>A (p.Ser3018=)
c.8925T>A (p.Ser2975=)
c.8916T>A (p.Ser2972=)
c.8412T>A (p.Ser2804=)
c.8343T>A (p.Ser2781=)
c.3129T>A (p.Ser1043=)
c.8979T>A (p.Ser2993=)
c.8859T>A (p.Ser2953=)
c.8790T>A (p.Ser2930=)
c.7194T>A (p.Ser2398=)
n.9330T>A
6g.51748563G>ACA253010PKHD1c.9053C>T (p.Ser3018Phe)
c.8924C>T (p.Ser2975Phe)
c.8915C>T (p.Ser2972Phe)
c.8411C>T (p.Ser2804Phe)
c.8342C>T (p.Ser2781Phe)
c.3128C>T (p.Ser1043Phe)
c.8978C>T (p.Ser2993Phe)
c.8858C>T (p.Ser2953Phe)
c.8789C>T (p.Ser2930Phe)
c.7193C>T (p.Ser2398Phe)
n.9329C>T
 ClinVar dbSNP
6g.51748563G>CCA364424070PKHD1c.9053C>G (p.Ser3018Cys)
c.8924C>G (p.Ser2975Cys)
c.8915C>G (p.Ser2972Cys)
c.8411C>G (p.Ser2804Cys)
c.8342C>G (p.Ser2781Cys)
c.3128C>G (p.Ser1043Cys)
c.8978C>G (p.Ser2993Cys)
c.8858C>G (p.Ser2953Cys)
c.8789C>G (p.Ser2930Cys)
c.7193C>G (p.Ser2398Cys)
n.9329C>G
 gnomAD v4
6g.51748563G=CA1628503757PKHD1c.9053C= (p.Ser3018=)
c.8924C= (p.Ser2975=)
c.8915C= (p.Ser2972=)
c.8411C= (p.Ser2804=)
c.8342C= (p.Ser2781=)
c.3128C= (p.Ser1043=)
c.8978C= (p.Ser2993=)
c.8858C= (p.Ser2953=)
c.8789C= (p.Ser2930=)
c.7193C= (p.Ser2398=)
n.9329C=
6g.51748563G>TCA364424071PKHD1c.9053C>A (p.Ser3018Tyr)
c.8924C>A (p.Ser2975Tyr)
c.8915C>A (p.Ser2972Tyr)
c.8411C>A (p.Ser2804Tyr)
c.8342C>A (p.Ser2781Tyr)
c.3128C>A (p.Ser1043Tyr)
c.8978C>A (p.Ser2993Tyr)
c.8858C>A (p.Ser2953Tyr)
c.8789C>A (p.Ser2930Tyr)
c.7193C>A (p.Ser2398Tyr)
n.9329C>A
6g.51748566_51748568delCA2695206434PKHD1c.9051_9053del (p.Ser3018del)
c.8922_8924del (p.Ser2975del)
c.8913_8915del (p.Ser2972del)
c.8409_8411del (p.Ser2804del)
c.8340_8342del (p.Ser2781del)
c.3126_3128del (p.Ser1043del)
c.8976_8978del (p.Ser2993del)
c.8856_8858del (p.Ser2953del)
c.8787_8789del (p.Ser2930del)
c.7191_7193del (p.Ser2398del)
n.9327_9329del
6g.51748564A>CCA364424072PKHD1c.9052T>G (p.Ser3018Ala)
c.8923T>G (p.Ser2975Ala)
c.8914T>G (p.Ser2972Ala)
c.8410T>G (p.Ser2804Ala)
c.8341T>G (p.Ser2781Ala)
c.3127T>G (p.Ser1043Ala)
c.8977T>G (p.Ser2993Ala)
c.8857T>G (p.Ser2953Ala)
c.8788T>G (p.Ser2930Ala)
c.7192T>G (p.Ser2398Ala)
n.9328T>G
6g.51748564A>GCA364424073PKHD1c.9052T>C (p.Ser3018Pro)
c.8923T>C (p.Ser2975Pro)
c.8914T>C (p.Ser2972Pro)
c.8410T>C (p.Ser2804Pro)
c.8341T>C (p.Ser2781Pro)
c.3127T>C (p.Ser1043Pro)
c.8977T>C (p.Ser2993Pro)
c.8857T>C (p.Ser2953Pro)
c.8788T>C (p.Ser2930Pro)
c.7192T>C (p.Ser2398Pro)
n.9328T>C
6g.51748564A>TCA364424074PKHD1c.9052T>A (p.Ser3018Thr)
c.8923T>A (p.Ser2975Thr)
c.8914T>A (p.Ser2972Thr)
c.8410T>A (p.Ser2804Thr)
c.8341T>A (p.Ser2781Thr)
c.3127T>A (p.Ser1043Thr)
c.8977T>A (p.Ser2993Thr)
c.8857T>A (p.Ser2953Thr)
c.8788T>A (p.Ser2930Thr)
c.7192T>A (p.Ser2398Thr)
n.9328T>A

Number of alleles fetched