Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51748591C>ACA364424149PKHD1c.9025G>T (p.Val3009Leu)
c.8896G>T (p.Val2966Leu)
c.8887G>T (p.Val2963Leu)
c.8383G>T (p.Val2795Leu)
c.8314G>T (p.Val2772Leu)
c.3100G>T (p.Val1034Leu)
c.8950G>T (p.Val2984Leu)
c.8830G>T (p.Val2944Leu)
c.8761G>T (p.Val2921Leu)
c.7165G>T (p.Val2389Leu)
n.9301G>T
6g.51748591C=CA1628503805PKHD1c.9025G= (p.Val3009=)
c.8896G= (p.Val2966=)
c.8887G= (p.Val2963=)
c.8383G= (p.Val2795=)
c.8314G= (p.Val2772=)
c.3100G= (p.Val1034=)
c.8950G= (p.Val2984=)
c.8830G= (p.Val2944=)
c.8761G= (p.Val2921=)
c.7165G= (p.Val2389=)
n.9301G=
6g.51748591C>GCA364424150PKHD1c.9025G>C (p.Val3009Leu)
c.8896G>C (p.Val2966Leu)
c.8887G>C (p.Val2963Leu)
c.8383G>C (p.Val2795Leu)
c.8314G>C (p.Val2772Leu)
c.3100G>C (p.Val1034Leu)
c.8950G>C (p.Val2984Leu)
c.8830G>C (p.Val2944Leu)
c.8761G>C (p.Val2921Leu)
c.7165G>C (p.Val2389Leu)
n.9301G>C
6g.51748591C>TCA3851457PKHD1c.9025G>A (p.Val3009Met)
c.8896G>A (p.Val2966Met)
c.8887G>A (p.Val2963Met)
c.8383G>A (p.Val2795Met)
c.8314G>A (p.Val2772Met)
c.3100G>A (p.Val1034Met)
c.8950G>A (p.Val2984Met)
c.8830G>A (p.Val2944Met)
c.8761G>A (p.Val2921Met)
c.7165G>A (p.Val2389Met)
n.9301G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748592A>CCA364424152PKHD1c.9024T>G (p.Asn3008Lys)
c.8895T>G (p.Asn2965Lys)
c.8886T>G (p.Asn2962Lys)
c.8382T>G (p.Asn2794Lys)
c.8313T>G (p.Asn2771Lys)
c.3099T>G (p.Asn1033Lys)
c.8949T>G (p.Asn2983Lys)
c.8829T>G (p.Asn2943Lys)
c.8760T>G (p.Asn2920Lys)
c.7164T>G (p.Asn2388Lys)
n.9300T>G
6g.51748592A>GCA450614070PKHD1c.9024T>C (p.Asn3008=)
c.8895T>C (p.Asn2965=)
c.8886T>C (p.Asn2962=)
c.8382T>C (p.Asn2794=)
c.8313T>C (p.Asn2771=)
c.3099T>C (p.Asn1033=)
c.8949T>C (p.Asn2983=)
c.8829T>C (p.Asn2943=)
c.8760T>C (p.Asn2920=)
c.7164T>C (p.Asn2388=)
n.9300T>C
 gnomAD v4
6g.51748592A>TCA364424154PKHD1c.9024T>A (p.Asn3008Lys)
c.8895T>A (p.Asn2965Lys)
c.8886T>A (p.Asn2962Lys)
c.8382T>A (p.Asn2794Lys)
c.8313T>A (p.Asn2771Lys)
c.3099T>A (p.Asn1033Lys)
c.8949T>A (p.Asn2983Lys)
c.8829T>A (p.Asn2943Lys)
c.8760T>A (p.Asn2920Lys)
c.7164T>A (p.Asn2388Lys)
n.9300T>A
6g.51748593T>ACA364424156PKHD1c.9023A>T (p.Asn3008Ile)
c.8894A>T (p.Asn2965Ile)
c.8885A>T (p.Asn2962Ile)
c.8381A>T (p.Asn2794Ile)
c.8312A>T (p.Asn2771Ile)
c.3098A>T (p.Asn1033Ile)
c.8948A>T (p.Asn2983Ile)
c.8828A>T (p.Asn2943Ile)
c.8759A>T (p.Asn2920Ile)
c.7163A>T (p.Asn2388Ile)
n.9299A>T
6g.51748593T>CCA364424158PKHD1c.9023A>G (p.Asn3008Ser)
c.8894A>G (p.Asn2965Ser)
c.8885A>G (p.Asn2962Ser)
c.8381A>G (p.Asn2794Ser)
c.8312A>G (p.Asn2771Ser)
c.3098A>G (p.Asn1033Ser)
c.8948A>G (p.Asn2983Ser)
c.8828A>G (p.Asn2943Ser)
c.8759A>G (p.Asn2920Ser)
c.7163A>G (p.Asn2388Ser)
n.9299A>G
6g.51748593T>GCA364424160PKHD1c.9023A>C (p.Asn3008Thr)
c.8894A>C (p.Asn2965Thr)
c.8885A>C (p.Asn2962Thr)
c.8381A>C (p.Asn2794Thr)
c.8312A>C (p.Asn2771Thr)
c.3098A>C (p.Asn1033Thr)
c.8948A>C (p.Asn2983Thr)
c.8828A>C (p.Asn2943Thr)
c.8759A>C (p.Asn2920Thr)
c.7163A>C (p.Asn2388Thr)
n.9299A>C
6g.51748594T>ACA364424166PKHD1c.9022A>T (p.Asn3008Tyr)
c.8893A>T (p.Asn2965Tyr)
c.8884A>T (p.Asn2962Tyr)
c.8380A>T (p.Asn2794Tyr)
c.8311A>T (p.Asn2771Tyr)
c.3097A>T (p.Asn1033Tyr)
c.8947A>T (p.Asn2983Tyr)
c.8827A>T (p.Asn2943Tyr)
c.8758A>T (p.Asn2920Tyr)
c.7162A>T (p.Asn2388Tyr)
n.9298A>T
6g.51748594T>CCA364424162PKHD1c.9022A>G (p.Asn3008Asp)
c.8893A>G (p.Asn2965Asp)
c.8884A>G (p.Asn2962Asp)
c.8380A>G (p.Asn2794Asp)
c.8311A>G (p.Asn2771Asp)
c.3097A>G (p.Asn1033Asp)
c.8947A>G (p.Asn2983Asp)
c.8827A>G (p.Asn2943Asp)
c.8758A>G (p.Asn2920Asp)
c.7162A>G (p.Asn2388Asp)
n.9298A>G
6g.51748594T>GCA364424164PKHD1c.9022A>C (p.Asn3008His)
c.8893A>C (p.Asn2965His)
c.8884A>C (p.Asn2962His)
c.8380A>C (p.Asn2794His)
c.8311A>C (p.Asn2771His)
c.3097A>C (p.Asn1033His)
c.8947A>C (p.Asn2983His)
c.8827A>C (p.Asn2943His)
c.8758A>C (p.Asn2920His)
c.7162A>C (p.Asn2388His)
n.9298A>C
6g.51748595A>CCA364424168PKHD1c.9021T>G (p.Ser3007Arg)
c.8892T>G (p.Ser2964Arg)
c.8883T>G (p.Ser2961Arg)
c.8379T>G (p.Ser2793Arg)
c.8310T>G (p.Ser2770Arg)
c.3096T>G (p.Ser1032Arg)
c.8946T>G (p.Ser2982Arg)
c.8826T>G (p.Ser2942Arg)
c.8757T>G (p.Ser2919Arg)
c.7161T>G (p.Ser2387Arg)
n.9297T>G
6g.51748595A>GCA450614082PKHD1c.9021T>C (p.Ser3007=)
c.8892T>C (p.Ser2964=)
c.8883T>C (p.Ser2961=)
c.8379T>C (p.Ser2793=)
c.8310T>C (p.Ser2770=)
c.3096T>C (p.Ser1032=)
c.8946T>C (p.Ser2982=)
c.8826T>C (p.Ser2942=)
c.8757T>C (p.Ser2919=)
c.7161T>C (p.Ser2387=)
n.9297T>C
6g.51748595A>TCA364424170PKHD1c.9021T>A (p.Ser3007Arg)
c.8892T>A (p.Ser2964Arg)
c.8883T>A (p.Ser2961Arg)
c.8379T>A (p.Ser2793Arg)
c.8310T>A (p.Ser2770Arg)
c.3096T>A (p.Ser1032Arg)
c.8946T>A (p.Ser2982Arg)
c.8826T>A (p.Ser2942Arg)
c.8757T>A (p.Ser2919Arg)
c.7161T>A (p.Ser2387Arg)
n.9297T>A
6g.51748596C>ACA364424173PKHD1c.9020G>T (p.Ser3007Ile)
c.8891G>T (p.Ser2964Ile)
c.8882G>T (p.Ser2961Ile)
c.8378G>T (p.Ser2793Ile)
c.8309G>T (p.Ser2770Ile)
c.3095G>T (p.Ser1032Ile)
c.8945G>T (p.Ser2982Ile)
c.8825G>T (p.Ser2942Ile)
c.8756G>T (p.Ser2919Ile)
c.7160G>T (p.Ser2387Ile)
n.9296G>T
6g.51748596C>GCA364424175PKHD1c.9020G>C (p.Ser3007Thr)
c.8891G>C (p.Ser2964Thr)
c.8882G>C (p.Ser2961Thr)
c.8378G>C (p.Ser2793Thr)
c.8309G>C (p.Ser2770Thr)
c.3095G>C (p.Ser1032Thr)
c.8945G>C (p.Ser2982Thr)
c.8825G>C (p.Ser2942Thr)
c.8756G>C (p.Ser2919Thr)
c.7160G>C (p.Ser2387Thr)
n.9296G>C
6g.51748596C>TCA364424176PKHD1c.9020G>A (p.Ser3007Asn)
c.8891G>A (p.Ser2964Asn)
c.8882G>A (p.Ser2961Asn)
c.8378G>A (p.Ser2793Asn)
c.8309G>A (p.Ser2770Asn)
c.3095G>A (p.Ser1032Asn)
c.8945G>A (p.Ser2982Asn)
c.8825G>A (p.Ser2942Asn)
c.8756G>A (p.Ser2919Asn)
c.7160G>A (p.Ser2387Asn)
n.9296G>A
6g.51748597T>ACA364424178PKHD1c.9019A>T (p.Ser3007Cys)
c.8890A>T (p.Ser2964Cys)
c.8881A>T (p.Ser2961Cys)
c.8377A>T (p.Ser2793Cys)
c.8308A>T (p.Ser2770Cys)
c.3094A>T (p.Ser1032Cys)
c.8944A>T (p.Ser2982Cys)
c.8824A>T (p.Ser2942Cys)
c.8755A>T (p.Ser2919Cys)
c.7159A>T (p.Ser2387Cys)
n.9295A>T
6g.51748597T>CCA364424181PKHD1c.9019A>G (p.Ser3007Gly)
c.8890A>G (p.Ser2964Gly)
c.8881A>G (p.Ser2961Gly)
c.8377A>G (p.Ser2793Gly)
c.8308A>G (p.Ser2770Gly)
c.3094A>G (p.Ser1032Gly)
c.8944A>G (p.Ser2982Gly)
c.8824A>G (p.Ser2942Gly)
c.8755A>G (p.Ser2919Gly)
c.7159A>G (p.Ser2387Gly)
n.9295A>G
6g.51748597T>GCA364424180PKHD1c.9019A>C (p.Ser3007Arg)
c.8890A>C (p.Ser2964Arg)
c.8881A>C (p.Ser2961Arg)
c.8377A>C (p.Ser2793Arg)
c.8308A>C (p.Ser2770Arg)
c.3094A>C (p.Ser1032Arg)
c.8944A>C (p.Ser2982Arg)
c.8824A>C (p.Ser2942Arg)
c.8755A>C (p.Ser2919Arg)
c.7159A>C (p.Ser2387Arg)
n.9295A>C
6g.51748598G>ACA450614085PKHD1c.9018C>T (p.Phe3006=)
c.8889C>T (p.Phe2963=)
c.8880C>T (p.Phe2960=)
c.8376C>T (p.Phe2792=)
c.8307C>T (p.Phe2769=)
c.3093C>T (p.Phe1031=)
c.8943C>T (p.Phe2981=)
c.8823C>T (p.Phe2941=)
c.8754C>T (p.Phe2918=)
c.7158C>T (p.Phe2386=)
n.9294C>T
6g.51748598G>CCA364424184PKHD1c.9018C>G (p.Phe3006Leu)
c.8889C>G (p.Phe2963Leu)
c.8880C>G (p.Phe2960Leu)
c.8376C>G (p.Phe2792Leu)
c.8307C>G (p.Phe2769Leu)
c.3093C>G (p.Phe1031Leu)
c.8943C>G (p.Phe2981Leu)
c.8823C>G (p.Phe2941Leu)
c.8754C>G (p.Phe2918Leu)
c.7158C>G (p.Phe2386Leu)
n.9294C>G
6g.51748598G>TCA364424186PKHD1c.9018C>A (p.Phe3006Leu)
c.8889C>A (p.Phe2963Leu)
c.8880C>A (p.Phe2960Leu)
c.8376C>A (p.Phe2792Leu)
c.8307C>A (p.Phe2769Leu)
c.3093C>A (p.Phe1031Leu)
c.8943C>A (p.Phe2981Leu)
c.8823C>A (p.Phe2941Leu)
c.8754C>A (p.Phe2918Leu)
c.7158C>A (p.Phe2386Leu)
n.9294C>A
 COSMIC COSMIC
6g.51748599A>CCA364424189PKHD1c.9017T>G (p.Phe3006Cys)
c.8888T>G (p.Phe2963Cys)
c.8879T>G (p.Phe2960Cys)
c.8375T>G (p.Phe2792Cys)
c.8306T>G (p.Phe2769Cys)
c.3092T>G (p.Phe1031Cys)
c.8942T>G (p.Phe2981Cys)
c.8822T>G (p.Phe2941Cys)
c.8753T>G (p.Phe2918Cys)
c.7157T>G (p.Phe2386Cys)
n.9293T>G
6g.51748599A>GCA364424191PKHD1c.9017T>C (p.Phe3006Ser)
c.8888T>C (p.Phe2963Ser)
c.8879T>C (p.Phe2960Ser)
c.8375T>C (p.Phe2792Ser)
c.8306T>C (p.Phe2769Ser)
c.3092T>C (p.Phe1031Ser)
c.8942T>C (p.Phe2981Ser)
c.8822T>C (p.Phe2941Ser)
c.8753T>C (p.Phe2918Ser)
c.7157T>C (p.Phe2386Ser)
n.9293T>C
6g.51748599A>TCA364424192PKHD1c.9017T>A (p.Phe3006Tyr)
c.8888T>A (p.Phe2963Tyr)
c.8879T>A (p.Phe2960Tyr)
c.8375T>A (p.Phe2792Tyr)
c.8306T>A (p.Phe2769Tyr)
c.3092T>A (p.Phe1031Tyr)
c.8942T>A (p.Phe2981Tyr)
c.8822T>A (p.Phe2941Tyr)
c.8753T>A (p.Phe2918Tyr)
c.7157T>A (p.Phe2386Tyr)
n.9293T>A
6g.51748600A>CCA364424195PKHD1c.9016T>G (p.Phe3006Val)
c.8887T>G (p.Phe2963Val)
c.8878T>G (p.Phe2960Val)
c.8374T>G (p.Phe2792Val)
c.8305T>G (p.Phe2769Val)
c.3091T>G (p.Phe1031Val)
c.8941T>G (p.Phe2981Val)
c.8821T>G (p.Phe2941Val)
c.8752T>G (p.Phe2918Val)
c.7156T>G (p.Phe2386Val)
n.9292T>G
6g.51748600A>GCA364424197PKHD1c.9016T>C (p.Phe3006Leu)
c.8887T>C (p.Phe2963Leu)
c.8878T>C (p.Phe2960Leu)
c.8374T>C (p.Phe2792Leu)
c.8305T>C (p.Phe2769Leu)
c.3091T>C (p.Phe1031Leu)
c.8941T>C (p.Phe2981Leu)
c.8821T>C (p.Phe2941Leu)
c.8752T>C (p.Phe2918Leu)
c.7156T>C (p.Phe2386Leu)
n.9292T>C
6g.51748600A>TCA364424198PKHD1c.9016T>A (p.Phe3006Ile)
c.8887T>A (p.Phe2963Ile)
c.8878T>A (p.Phe2960Ile)
c.8374T>A (p.Phe2792Ile)
c.8305T>A (p.Phe2769Ile)
c.3091T>A (p.Phe1031Ile)
c.8941T>A (p.Phe2981Ile)
c.8821T>A (p.Phe2941Ile)
c.8752T>A (p.Phe2918Ile)
c.7156T>A (p.Phe2386Ile)
n.9292T>A
6g.51748601T>ACA364424199PKHD1c.9015A>T (p.Glu3005Asp)
c.8886A>T (p.Glu2962Asp)
c.8877A>T (p.Glu2959Asp)
c.8373A>T (p.Glu2791Asp)
c.8304A>T (p.Glu2768Asp)
c.3090A>T (p.Glu1030Asp)
c.8940A>T (p.Glu2980Asp)
c.8820A>T (p.Glu2940Asp)
c.8751A>T (p.Glu2917Asp)
c.7155A>T (p.Glu2385Asp)
n.9291A>T
6g.51748601T>CCA450614088PKHD1c.9015A>G (p.Glu3005=)
c.8886A>G (p.Glu2962=)
c.8877A>G (p.Glu2959=)
c.8373A>G (p.Glu2791=)
c.8304A>G (p.Glu2768=)
c.3090A>G (p.Glu1030=)
c.8940A>G (p.Glu2980=)
c.8820A>G (p.Glu2940=)
c.8751A>G (p.Glu2917=)
c.7155A>G (p.Glu2385=)
n.9291A>G
6g.51748601T>GCA364424200PKHD1c.9015A>C (p.Glu3005Asp)
c.8886A>C (p.Glu2962Asp)
c.8877A>C (p.Glu2959Asp)
c.8373A>C (p.Glu2791Asp)
c.8304A>C (p.Glu2768Asp)
c.3090A>C (p.Glu1030Asp)
c.8940A>C (p.Glu2980Asp)
c.8820A>C (p.Glu2940Asp)
c.8751A>C (p.Glu2917Asp)
c.7155A>C (p.Glu2385Asp)
n.9291A>C
6g.51748602T>ACA3851458PKHD1c.9014A>T (p.Glu3005Val)
c.8885A>T (p.Glu2962Val)
c.8876A>T (p.Glu2959Val)
c.8372A>T (p.Glu2791Val)
c.8303A>T (p.Glu2768Val)
c.3089A>T (p.Glu1030Val)
c.8939A>T (p.Glu2980Val)
c.8819A>T (p.Glu2940Val)
c.8750A>T (p.Glu2917Val)
c.7154A>T (p.Glu2385Val)
n.9290A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748602T>CCA364424202PKHD1c.9014A>G (p.Glu3005Gly)
c.8885A>G (p.Glu2962Gly)
c.8876A>G (p.Glu2959Gly)
c.8372A>G (p.Glu2791Gly)
c.8303A>G (p.Glu2768Gly)
c.3089A>G (p.Glu1030Gly)
c.8939A>G (p.Glu2980Gly)
c.8819A>G (p.Glu2940Gly)
c.8750A>G (p.Glu2917Gly)
c.7154A>G (p.Glu2385Gly)
n.9290A>G
6g.51748602T>GCA364424203PKHD1c.9014A>C (p.Glu3005Ala)
c.8885A>C (p.Glu2962Ala)
c.8876A>C (p.Glu2959Ala)
c.8372A>C (p.Glu2791Ala)
c.8303A>C (p.Glu2768Ala)
c.3089A>C (p.Glu1030Ala)
c.8939A>C (p.Glu2980Ala)
c.8819A>C (p.Glu2940Ala)
c.8750A>C (p.Glu2917Ala)
c.7154A>C (p.Glu2385Ala)
n.9290A>C
6g.51748602T=CA1628503812PKHD1c.9014A= (p.Glu3005=)
c.8885A= (p.Glu2962=)
c.8876A= (p.Glu2959=)
c.8372A= (p.Glu2791=)
c.8303A= (p.Glu2768=)
c.3089A= (p.Glu1030=)
c.8939A= (p.Glu2980=)
c.8819A= (p.Glu2940=)
c.8750A= (p.Glu2917=)
c.7154A= (p.Glu2385=)
n.9290A=
6g.51748603C>ACA364424209PKHD1c.9013G>T (p.Glu3005Ter)
c.8884G>T (p.Glu2962Ter)
c.8875G>T (p.Glu2959Ter)
c.8371G>T (p.Glu2791Ter)
c.8302G>T (p.Glu2768Ter)
c.3088G>T (p.Glu1030Ter)
c.8938G>T (p.Glu2980Ter)
c.8818G>T (p.Glu2940Ter)
c.8749G>T (p.Glu2917Ter)
c.7153G>T (p.Glu2385Ter)
n.9289G>T
6g.51748603C>GCA364424207PKHD1c.9013G>C (p.Glu3005Gln)
c.8884G>C (p.Glu2962Gln)
c.8875G>C (p.Glu2959Gln)
c.8371G>C (p.Glu2791Gln)
c.8302G>C (p.Glu2768Gln)
c.3088G>C (p.Glu1030Gln)
c.8938G>C (p.Glu2980Gln)
c.8818G>C (p.Glu2940Gln)
c.8749G>C (p.Glu2917Gln)
c.7153G>C (p.Glu2385Gln)
n.9289G>C
6g.51748603C>TCA364424206PKHD1c.9013G>A (p.Glu3005Lys)
c.8884G>A (p.Glu2962Lys)
c.8875G>A (p.Glu2959Lys)
c.8371G>A (p.Glu2791Lys)
c.8302G>A (p.Glu2768Lys)
c.3088G>A (p.Glu1030Lys)
c.8938G>A (p.Glu2980Lys)
c.8818G>A (p.Glu2940Lys)
c.8749G>A (p.Glu2917Lys)
c.7153G>A (p.Glu2385Lys)
n.9289G>A
6g.51748604A>CCA450614096PKHD1c.9012T>G (p.Val3004=)
c.8883T>G (p.Val2961=)
c.8874T>G (p.Val2958=)
c.8370T>G (p.Val2790=)
c.8301T>G (p.Val2767=)
c.3087T>G (p.Val1029=)
c.8937T>G (p.Val2979=)
c.8817T>G (p.Val2939=)
c.8748T>G (p.Val2916=)
c.7152T>G (p.Val2384=)
n.9288T>G
6g.51748604A>GCA450614097PKHD1c.9012T>C (p.Val3004=)
c.8883T>C (p.Val2961=)
c.8874T>C (p.Val2958=)
c.8370T>C (p.Val2790=)
c.8301T>C (p.Val2767=)
c.3087T>C (p.Val1029=)
c.8937T>C (p.Val2979=)
c.8817T>C (p.Val2939=)
c.8748T>C (p.Val2916=)
c.7152T>C (p.Val2384=)
n.9288T>C
6g.51748604A>TCA450614098PKHD1c.9012T>A (p.Val3004=)
c.8883T>A (p.Val2961=)
c.8874T>A (p.Val2958=)
c.8370T>A (p.Val2790=)
c.8301T>A (p.Val2767=)
c.3087T>A (p.Val1029=)
c.8937T>A (p.Val2979=)
c.8817T>A (p.Val2939=)
c.8748T>A (p.Val2916=)
c.7152T>A (p.Val2384=)
n.9288T>A
6g.51748605A>CCA364424211PKHD1c.9011T>G (p.Val3004Gly)
c.8882T>G (p.Val2961Gly)
c.8873T>G (p.Val2958Gly)
c.8369T>G (p.Val2790Gly)
c.8300T>G (p.Val2767Gly)
c.3086T>G (p.Val1029Gly)
c.8936T>G (p.Val2979Gly)
c.8816T>G (p.Val2939Gly)
c.8747T>G (p.Val2916Gly)
c.7151T>G (p.Val2384Gly)
n.9287T>G
6g.51748605A>GCA364424213PKHD1c.9011T>C (p.Val3004Ala)
c.8882T>C (p.Val2961Ala)
c.8873T>C (p.Val2958Ala)
c.8369T>C (p.Val2790Ala)
c.8300T>C (p.Val2767Ala)
c.3086T>C (p.Val1029Ala)
c.8936T>C (p.Val2979Ala)
c.8816T>C (p.Val2939Ala)
c.8747T>C (p.Val2916Ala)
c.7151T>C (p.Val2384Ala)
n.9287T>C
 gnomAD v4
6g.51748605A>TCA364424215PKHD1c.9011T>A (p.Val3004Asp)
c.8882T>A (p.Val2961Asp)
c.8873T>A (p.Val2958Asp)
c.8369T>A (p.Val2790Asp)
c.8300T>A (p.Val2767Asp)
c.3086T>A (p.Val1029Asp)
c.8936T>A (p.Val2979Asp)
c.8816T>A (p.Val2939Asp)
c.8747T>A (p.Val2916Asp)
c.7151T>A (p.Val2384Asp)
n.9287T>A
6g.51748606C>ACA364424217PKHD1c.9010G>T (p.Val3004Phe)
c.8881G>T (p.Val2961Phe)
c.8872G>T (p.Val2958Phe)
c.8368G>T (p.Val2790Phe)
c.8299G>T (p.Val2767Phe)
c.3085G>T (p.Val1029Phe)
c.8935G>T (p.Val2979Phe)
c.8815G>T (p.Val2939Phe)
c.8746G>T (p.Val2916Phe)
c.7150G>T (p.Val2384Phe)
n.9286G>T
6g.51748606C=CA1628503817PKHD1c.9010G= (p.Val3004=)
c.8881G= (p.Val2961=)
c.8872G= (p.Val2958=)
c.8368G= (p.Val2790=)
c.8299G= (p.Val2767=)
c.3085G= (p.Val1029=)
c.8935G= (p.Val2979=)
c.8815G= (p.Val2939=)
c.8746G= (p.Val2916=)
c.7150G= (p.Val2384=)
n.9286G=
6g.51748606C>GCA364424218PKHD1c.9010G>C (p.Val3004Leu)
c.8881G>C (p.Val2961Leu)
c.8872G>C (p.Val2958Leu)
c.8368G>C (p.Val2790Leu)
c.8299G>C (p.Val2767Leu)
c.3085G>C (p.Val1029Leu)
c.8935G>C (p.Val2979Leu)
c.8815G>C (p.Val2939Leu)
c.8746G>C (p.Val2916Leu)
c.7150G>C (p.Val2384Leu)
n.9286G>C
 COSMIC COSMIC
6g.51748606C>TCA364424221PKHD1c.9010G>A (p.Val3004Ile)
c.8881G>A (p.Val2961Ile)
c.8872G>A (p.Val2958Ile)
c.8368G>A (p.Val2790Ile)
c.8299G>A (p.Val2767Ile)
c.3085G>A (p.Val1029Ile)
c.8935G>A (p.Val2979Ile)
c.8815G>A (p.Val2939Ile)
c.8746G>A (p.Val2916Ile)
c.7150G>A (p.Val2384Ile)
n.9286G>A
 dbSNP gnomAD v2 gnomAD v4
6g.51748607A>CCA450614107PKHD1c.9009T>G (p.Ser3003=)
c.8880T>G (p.Ser2960=)
c.8871T>G (p.Ser2957=)
c.8367T>G (p.Ser2789=)
c.8298T>G (p.Ser2766=)
c.3084T>G (p.Ser1028=)
c.8934T>G (p.Ser2978=)
c.8814T>G (p.Ser2938=)
c.8745T>G (p.Ser2915=)
c.7149T>G (p.Ser2383=)
n.9285T>G
6g.51748607A>GCA450614109PKHD1c.9009T>C (p.Ser3003=)
c.8880T>C (p.Ser2960=)
c.8871T>C (p.Ser2957=)
c.8367T>C (p.Ser2789=)
c.8298T>C (p.Ser2766=)
c.3084T>C (p.Ser1028=)
c.8934T>C (p.Ser2978=)
c.8814T>C (p.Ser2938=)
c.8745T>C (p.Ser2915=)
c.7149T>C (p.Ser2383=)
n.9285T>C
6g.51748607A>TCA450614111PKHD1c.9009T>A (p.Ser3003=)
c.8880T>A (p.Ser2960=)
c.8871T>A (p.Ser2957=)
c.8367T>A (p.Ser2789=)
c.8298T>A (p.Ser2766=)
c.3084T>A (p.Ser1028=)
c.8934T>A (p.Ser2978=)
c.8814T>A (p.Ser2938=)
c.8745T>A (p.Ser2915=)
c.7149T>A (p.Ser2383=)
n.9285T>A
6g.51748608G>ACA364424224PKHD1c.9008C>T (p.Ser3003Phe)
c.8879C>T (p.Ser2960Phe)
c.8870C>T (p.Ser2957Phe)
c.8366C>T (p.Ser2789Phe)
c.8297C>T (p.Ser2766Phe)
c.3083C>T (p.Ser1028Phe)
c.8933C>T (p.Ser2978Phe)
c.8813C>T (p.Ser2938Phe)
c.8744C>T (p.Ser2915Phe)
c.7148C>T (p.Ser2383Phe)
n.9284C>T
6g.51748608G>CCA138896758PKHD1c.9008C>G (p.Ser3003Cys)
c.8879C>G (p.Ser2960Cys)
c.8870C>G (p.Ser2957Cys)
c.8366C>G (p.Ser2789Cys)
c.8297C>G (p.Ser2766Cys)
c.3083C>G (p.Ser1028Cys)
c.8933C>G (p.Ser2978Cys)
c.8813C>G (p.Ser2938Cys)
c.8744C>G (p.Ser2915Cys)
c.7148C>G (p.Ser2383Cys)
n.9284C>G
 dbSNP gnomAD v4
6g.51748608G=CA1628503821PKHD1c.9008C= (p.Ser3003=)
c.8879C= (p.Ser2960=)
c.8870C= (p.Ser2957=)
c.8366C= (p.Ser2789=)
c.8297C= (p.Ser2766=)
c.3083C= (p.Ser1028=)
c.8933C= (p.Ser2978=)
c.8813C= (p.Ser2938=)
c.8744C= (p.Ser2915=)
c.7148C= (p.Ser2383=)
n.9284C=
6g.51748608G>TCA364424226PKHD1c.9008C>A (p.Ser3003Tyr)
c.8879C>A (p.Ser2960Tyr)
c.8870C>A (p.Ser2957Tyr)
c.8366C>A (p.Ser2789Tyr)
c.8297C>A (p.Ser2766Tyr)
c.3083C>A (p.Ser1028Tyr)
c.8933C>A (p.Ser2978Tyr)
c.8813C>A (p.Ser2938Tyr)
c.8744C>A (p.Ser2915Tyr)
c.7148C>A (p.Ser2383Tyr)
n.9284C>A
6g.51748609A>CCA364424229PKHD1c.9007T>G (p.Ser3003Ala)
c.8878T>G (p.Ser2960Ala)
c.8869T>G (p.Ser2957Ala)
c.8365T>G (p.Ser2789Ala)
c.8296T>G (p.Ser2766Ala)
c.3082T>G (p.Ser1028Ala)
c.8932T>G (p.Ser2978Ala)
c.8812T>G (p.Ser2938Ala)
c.8743T>G (p.Ser2915Ala)
c.7147T>G (p.Ser2383Ala)
n.9283T>G
6g.51748609A>GCA364424231PKHD1c.9007T>C (p.Ser3003Pro)
c.8878T>C (p.Ser2960Pro)
c.8869T>C (p.Ser2957Pro)
c.8365T>C (p.Ser2789Pro)
c.8296T>C (p.Ser2766Pro)
c.3082T>C (p.Ser1028Pro)
c.8932T>C (p.Ser2978Pro)
c.8812T>C (p.Ser2938Pro)
c.8743T>C (p.Ser2915Pro)
c.7147T>C (p.Ser2383Pro)
n.9283T>C
6g.51748609A>TCA364424232PKHD1c.9007T>A (p.Ser3003Thr)
c.8878T>A (p.Ser2960Thr)
c.8869T>A (p.Ser2957Thr)
c.8365T>A (p.Ser2789Thr)
c.8296T>A (p.Ser2766Thr)
c.3082T>A (p.Ser1028Thr)
c.8932T>A (p.Ser2978Thr)
c.8812T>A (p.Ser2938Thr)
c.8743T>A (p.Ser2915Thr)
c.7147T>A (p.Ser2383Thr)
n.9283T>A
6g.51748610T>ACA450614120PKHD1c.9006A>T (p.Ser3002=)
c.8877A>T (p.Ser2959=)
c.8868A>T (p.Ser2956=)
c.8364A>T (p.Ser2788=)
c.8295A>T (p.Ser2765=)
c.3081A>T (p.Ser1027=)
c.8931A>T (p.Ser2977=)
c.8811A>T (p.Ser2937=)
c.8742A>T (p.Ser2914=)
c.7146A>T (p.Ser2382=)
n.9282A>T
 gnomAD v4
6g.51748610T>CCA450614121PKHD1c.9006A>G (p.Ser3002=)
c.8877A>G (p.Ser2959=)
c.8868A>G (p.Ser2956=)
c.8364A>G (p.Ser2788=)
c.8295A>G (p.Ser2765=)
c.3081A>G (p.Ser1027=)
c.8931A>G (p.Ser2977=)
c.8811A>G (p.Ser2937=)
c.8742A>G (p.Ser2914=)
c.7146A>G (p.Ser2382=)
n.9282A>G
 gnomAD v4
6g.51748610T>GCA450614122PKHD1c.9006A>C (p.Ser3002=)
c.8877A>C (p.Ser2959=)
c.8868A>C (p.Ser2956=)
c.8364A>C (p.Ser2788=)
c.8295A>C (p.Ser2765=)
c.3081A>C (p.Ser1027=)
c.8931A>C (p.Ser2977=)
c.8811A>C (p.Ser2937=)
c.8742A>C (p.Ser2914=)
c.7146A>C (p.Ser2382=)
n.9282A>C
6g.51748611G>ACA364424236PKHD1c.9005C>T (p.Ser3002Leu)
c.8876C>T (p.Ser2959Leu)
c.8867C>T (p.Ser2956Leu)
c.8363C>T (p.Ser2788Leu)
c.8294C>T (p.Ser2765Leu)
c.3080C>T (p.Ser1027Leu)
c.8930C>T (p.Ser2977Leu)
c.8810C>T (p.Ser2937Leu)
c.8741C>T (p.Ser2914Leu)
c.7145C>T (p.Ser2382Leu)
n.9281C>T
6g.51748611G>CCA364424237PKHD1c.9005C>G (p.Ser3002Ter)
c.8876C>G (p.Ser2959Ter)
c.8867C>G (p.Ser2956Ter)
c.8363C>G (p.Ser2788Ter)
c.8294C>G (p.Ser2765Ter)
c.3080C>G (p.Ser1027Ter)
c.8930C>G (p.Ser2977Ter)
c.8810C>G (p.Ser2937Ter)
c.8741C>G (p.Ser2914Ter)
c.7145C>G (p.Ser2382Ter)
n.9281C>G
6g.51748611G>TCA364424235PKHD1c.9005C>A (p.Ser3002Ter)
c.8876C>A (p.Ser2959Ter)
c.8867C>A (p.Ser2956Ter)
c.8363C>A (p.Ser2788Ter)
c.8294C>A (p.Ser2765Ter)
c.3080C>A (p.Ser1027Ter)
c.8930C>A (p.Ser2977Ter)
c.8810C>A (p.Ser2937Ter)
c.8741C>A (p.Ser2914Ter)
c.7145C>A (p.Ser2382Ter)
n.9281C>A
 ClinVar
6g.51748612A>CCA364424240PKHD1c.9004T>G (p.Ser3002Ala)
c.8875T>G (p.Ser2959Ala)
c.8866T>G (p.Ser2956Ala)
c.8362T>G (p.Ser2788Ala)
c.8293T>G (p.Ser2765Ala)
c.3079T>G (p.Ser1027Ala)
c.8929T>G (p.Ser2977Ala)
c.8809T>G (p.Ser2937Ala)
c.8740T>G (p.Ser2914Ala)
c.7144T>G (p.Ser2382Ala)
n.9280T>G
6g.51748612A>GCA364424242PKHD1c.9004T>C (p.Ser3002Pro)
c.8875T>C (p.Ser2959Pro)
c.8866T>C (p.Ser2956Pro)
c.8362T>C (p.Ser2788Pro)
c.8293T>C (p.Ser2765Pro)
c.3079T>C (p.Ser1027Pro)
c.8929T>C (p.Ser2977Pro)
c.8809T>C (p.Ser2937Pro)
c.8740T>C (p.Ser2914Pro)
c.7144T>C (p.Ser2382Pro)
n.9280T>C
 gnomAD v4
6g.51748612A>TCA364424243PKHD1c.9004T>A (p.Ser3002Thr)
c.8875T>A (p.Ser2959Thr)
c.8866T>A (p.Ser2956Thr)
c.8362T>A (p.Ser2788Thr)
c.8293T>A (p.Ser2765Thr)
c.3079T>A (p.Ser1027Thr)
c.8929T>A (p.Ser2977Thr)
c.8809T>A (p.Ser2937Thr)
c.8740T>A (p.Ser2914Thr)
c.7144T>A (p.Ser2382Thr)
n.9280T>A
 gnomAD v4
6g.51748613G>ACA3851459PKHD1c.9003C>T (p.Tyr3001=)
c.8874C>T (p.Tyr2958=)
c.8865C>T (p.Tyr2955=)
c.8361C>T (p.Tyr2787=)
c.8292C>T (p.Tyr2764=)
c.3078C>T (p.Tyr1026=)
c.8928C>T (p.Tyr2976=)
c.8808C>T (p.Tyr2936=)
c.8739C>T (p.Tyr2913=)
c.7143C>T (p.Tyr2381=)
n.9279C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748613G>CCA364424247PKHD1c.9003C>G (p.Tyr3001Ter)
c.8874C>G (p.Tyr2958Ter)
c.8865C>G (p.Tyr2955Ter)
c.8361C>G (p.Tyr2787Ter)
c.8292C>G (p.Tyr2764Ter)
c.3078C>G (p.Tyr1026Ter)
c.8928C>G (p.Tyr2976Ter)
c.8808C>G (p.Tyr2936Ter)
c.8739C>G (p.Tyr2913Ter)
c.7143C>G (p.Tyr2381Ter)
n.9279C>G
 ClinVar dbSNP
6g.51748613G=CA1628503830PKHD1c.9003C= (p.Tyr3001=)
c.8874C= (p.Tyr2958=)
c.8865C= (p.Tyr2955=)
c.8361C= (p.Tyr2787=)
c.8292C= (p.Tyr2764=)
c.3078C= (p.Tyr1026=)
c.8928C= (p.Tyr2976=)
c.8808C= (p.Tyr2936=)
c.8739C= (p.Tyr2913=)
c.7143C= (p.Tyr2381=)
n.9279C=
6g.51748613G>TCA364424248PKHD1c.9003C>A (p.Tyr3001Ter)
c.8874C>A (p.Tyr2958Ter)
c.8865C>A (p.Tyr2955Ter)
c.8361C>A (p.Tyr2787Ter)
c.8292C>A (p.Tyr2764Ter)
c.3078C>A (p.Tyr1026Ter)
c.8928C>A (p.Tyr2976Ter)
c.8808C>A (p.Tyr2936Ter)
c.8739C>A (p.Tyr2913Ter)
c.7143C>A (p.Tyr2381Ter)
n.9279C>A
 ClinVar
6g.51748614T>ACA364424251PKHD1c.9002A>T (p.Tyr3001Phe)
c.8873A>T (p.Tyr2958Phe)
c.8864A>T (p.Tyr2955Phe)
c.8360A>T (p.Tyr2787Phe)
c.8291A>T (p.Tyr2764Phe)
c.3077A>T (p.Tyr1026Phe)
c.8927A>T (p.Tyr2976Phe)
c.8807A>T (p.Tyr2936Phe)
c.8738A>T (p.Tyr2913Phe)
c.7142A>T (p.Tyr2381Phe)
n.9278A>T
6g.51748614T>CCA364424252PKHD1c.9002A>G (p.Tyr3001Cys)
c.8873A>G (p.Tyr2958Cys)
c.8864A>G (p.Tyr2955Cys)
c.8360A>G (p.Tyr2787Cys)
c.8291A>G (p.Tyr2764Cys)
c.3077A>G (p.Tyr1026Cys)
c.8927A>G (p.Tyr2976Cys)
c.8807A>G (p.Tyr2936Cys)
c.8738A>G (p.Tyr2913Cys)
c.7142A>G (p.Tyr2381Cys)
n.9278A>G
6g.51748614T>GCA364424254PKHD1c.9002A>C (p.Tyr3001Ser)
c.8873A>C (p.Tyr2958Ser)
c.8864A>C (p.Tyr2955Ser)
c.8360A>C (p.Tyr2787Ser)
c.8291A>C (p.Tyr2764Ser)
c.3077A>C (p.Tyr1026Ser)
c.8927A>C (p.Tyr2976Ser)
c.8807A>C (p.Tyr2936Ser)
c.8738A>C (p.Tyr2913Ser)
c.7142A>C (p.Tyr2381Ser)
n.9278A>C
6g.51748615A>CCA364424257PKHD1c.9001T>G (p.Tyr3001Asp)
c.8872T>G (p.Tyr2958Asp)
c.8863T>G (p.Tyr2955Asp)
c.8359T>G (p.Tyr2787Asp)
c.8290T>G (p.Tyr2764Asp)
c.3076T>G (p.Tyr1026Asp)
c.8926T>G (p.Tyr2976Asp)
c.8806T>G (p.Tyr2936Asp)
c.8737T>G (p.Tyr2913Asp)
c.7141T>G (p.Tyr2381Asp)
n.9277T>G
6g.51748615A>GCA364424258PKHD1c.9001T>C (p.Tyr3001His)
c.8872T>C (p.Tyr2958His)
c.8863T>C (p.Tyr2955His)
c.8359T>C (p.Tyr2787His)
c.8290T>C (p.Tyr2764His)
c.3076T>C (p.Tyr1026His)
c.8926T>C (p.Tyr2976His)
c.8806T>C (p.Tyr2936His)
c.8737T>C (p.Tyr2913His)
c.7141T>C (p.Tyr2381His)
n.9277T>C
 gnomAD v4
6g.51748615A>TCA364424260PKHD1c.9001T>A (p.Tyr3001Asn)
c.8872T>A (p.Tyr2958Asn)
c.8863T>A (p.Tyr2955Asn)
c.8359T>A (p.Tyr2787Asn)
c.8290T>A (p.Tyr2764Asn)
c.3076T>A (p.Tyr1026Asn)
c.8926T>A (p.Tyr2976Asn)
c.8806T>A (p.Tyr2936Asn)
c.8737T>A (p.Tyr2913Asn)
c.7141T>A (p.Tyr2381Asn)
n.9277T>A
6g.51748616C>ACA364424263PKHD1c.9000G>T (p.Leu3000Phe)
c.8871G>T (p.Leu2957Phe)
c.8862G>T (p.Leu2954Phe)
c.8358G>T (p.Leu2786Phe)
c.8289G>T (p.Leu2763Phe)
c.3075G>T (p.Leu1025Phe)
c.8925G>T (p.Leu2975Phe)
c.8805G>T (p.Leu2935Phe)
c.8736G>T (p.Leu2912Phe)
c.7140G>T (p.Leu2380Phe)
n.9276G>T
 gnomAD v4
6g.51748616C=CA1628503845PKHD1c.9000G= (p.Leu3000=)
c.8871G= (p.Leu2957=)
c.8862G= (p.Leu2954=)
c.8358G= (p.Leu2786=)
c.8289G= (p.Leu2763=)
c.3075G= (p.Leu1025=)
c.8925G= (p.Leu2975=)
c.8805G= (p.Leu2935=)
c.8736G= (p.Leu2912=)
c.7140G= (p.Leu2380=)
n.9276G=
6g.51748616C>GCA3851460PKHD1c.9000G>C (p.Leu3000Phe)
c.8871G>C (p.Leu2957Phe)
c.8862G>C (p.Leu2954Phe)
c.8358G>C (p.Leu2786Phe)
c.8289G>C (p.Leu2763Phe)
c.3075G>C (p.Leu1025Phe)
c.8925G>C (p.Leu2975Phe)
c.8805G>C (p.Leu2935Phe)
c.8736G>C (p.Leu2912Phe)
c.7140G>C (p.Leu2380Phe)
n.9276G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748616C>TCA3851461PKHD1c.9000G>A (p.Leu3000=)
c.8871G>A (p.Leu2957=)
c.8862G>A (p.Leu2954=)
c.8358G>A (p.Leu2786=)
c.8289G>A (p.Leu2763=)
c.3075G>A (p.Leu1025=)
c.8925G>A (p.Leu2975=)
c.8805G>A (p.Leu2935=)
c.8736G>A (p.Leu2912=)
c.7140G>A (p.Leu2380=)
n.9276G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748617A=CA1628503846PKHD1c.8999T= (p.Leu3000=)
c.8870T= (p.Leu2957=)
c.8861T= (p.Leu2954=)
c.8357T= (p.Leu2786=)
c.8288T= (p.Leu2763=)
c.3074T= (p.Leu1025=)
c.8924T= (p.Leu2975=)
c.8804T= (p.Leu2935=)
c.8735T= (p.Leu2912=)
c.7139T= (p.Leu2380=)
n.9275T=
6g.51748617A>CCA364424266PKHD1c.8999T>G (p.Leu3000Trp)
c.8870T>G (p.Leu2957Trp)
c.8861T>G (p.Leu2954Trp)
c.8357T>G (p.Leu2786Trp)
c.8288T>G (p.Leu2763Trp)
c.3074T>G (p.Leu1025Trp)
c.8924T>G (p.Leu2975Trp)
c.8804T>G (p.Leu2935Trp)
c.8735T>G (p.Leu2912Trp)
c.7139T>G (p.Leu2380Trp)
n.9275T>G
 dbSNP gnomAD v3 gnomAD v4
6g.51748617A>GCA364424268PKHD1c.8999T>C (p.Leu3000Ser)
c.8870T>C (p.Leu2957Ser)
c.8861T>C (p.Leu2954Ser)
c.8357T>C (p.Leu2786Ser)
c.8288T>C (p.Leu2763Ser)
c.3074T>C (p.Leu1025Ser)
c.8924T>C (p.Leu2975Ser)
c.8804T>C (p.Leu2935Ser)
c.8735T>C (p.Leu2912Ser)
c.7139T>C (p.Leu2380Ser)
n.9275T>C
6g.51748617A>TCA364424269PKHD1c.8999T>A (p.Leu3000Ter)
c.8870T>A (p.Leu2957Ter)
c.8861T>A (p.Leu2954Ter)
c.8357T>A (p.Leu2786Ter)
c.8288T>A (p.Leu2763Ter)
c.3074T>A (p.Leu1025Ter)
c.8924T>A (p.Leu2975Ter)
c.8804T>A (p.Leu2935Ter)
c.8735T>A (p.Leu2912Ter)
c.7139T>A (p.Leu2380Ter)
n.9275T>A
6g.51748618A>CCA364424272PKHD1c.8998T>G (p.Leu3000Val)
c.8869T>G (p.Leu2957Val)
c.8860T>G (p.Leu2954Val)
c.8356T>G (p.Leu2786Val)
c.8287T>G (p.Leu2763Val)
c.3073T>G (p.Leu1025Val)
c.8923T>G (p.Leu2975Val)
c.8803T>G (p.Leu2935Val)
c.8734T>G (p.Leu2912Val)
c.7138T>G (p.Leu2380Val)
n.9274T>G
6g.51748618A>GCA450614145PKHD1c.8998T>C (p.Leu3000=)
c.8869T>C (p.Leu2957=)
c.8860T>C (p.Leu2954=)
c.8356T>C (p.Leu2786=)
c.8287T>C (p.Leu2763=)
c.3073T>C (p.Leu1025=)
c.8923T>C (p.Leu2975=)
c.8803T>C (p.Leu2935=)
c.8734T>C (p.Leu2912=)
c.7138T>C (p.Leu2380=)
n.9274T>C
6g.51748618A>TCA364424274PKHD1c.8998T>A (p.Leu3000Met)
c.8869T>A (p.Leu2957Met)
c.8860T>A (p.Leu2954Met)
c.8356T>A (p.Leu2786Met)
c.8287T>A (p.Leu2763Met)
c.3073T>A (p.Leu1025Met)
c.8923T>A (p.Leu2975Met)
c.8803T>A (p.Leu2935Met)
c.8734T>A (p.Leu2912Met)
c.7138T>A (p.Leu2380Met)
n.9274T>A
6g.51748619T>ACA450614149PKHD1c.8997A>T (p.Pro2999=)
c.8868A>T (p.Pro2956=)
c.8859A>T (p.Pro2953=)
c.8355A>T (p.Pro2785=)
c.8286A>T (p.Pro2762=)
c.3072A>T (p.Pro1024=)
c.8922A>T (p.Pro2974=)
c.8802A>T (p.Pro2934=)
c.8733A>T (p.Pro2911=)
c.7137A>T (p.Pro2379=)
n.9273A>T
6g.51748619T>CCA3851462PKHD1c.8997A>G (p.Pro2999=)
c.8868A>G (p.Pro2956=)
c.8859A>G (p.Pro2953=)
c.8355A>G (p.Pro2785=)
c.8286A>G (p.Pro2762=)
c.3072A>G (p.Pro1024=)
c.8922A>G (p.Pro2974=)
c.8802A>G (p.Pro2934=)
c.8733A>G (p.Pro2911=)
c.7137A>G (p.Pro2379=)
n.9273A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748619T>GCA450614153PKHD1c.8997A>C (p.Pro2999=)
c.8868A>C (p.Pro2956=)
c.8859A>C (p.Pro2953=)
c.8355A>C (p.Pro2785=)
c.8286A>C (p.Pro2762=)
c.3072A>C (p.Pro1024=)
c.8922A>C (p.Pro2974=)
c.8802A>C (p.Pro2934=)
c.8733A>C (p.Pro2911=)
c.7137A>C (p.Pro2379=)
n.9273A>C
6g.51748619T=CA1628503850PKHD1c.8997A= (p.Pro2999=)
c.8868A= (p.Pro2956=)
c.8859A= (p.Pro2953=)
c.8355A= (p.Pro2785=)
c.8286A= (p.Pro2762=)
c.3072A= (p.Pro1024=)
c.8922A= (p.Pro2974=)
c.8802A= (p.Pro2934=)
c.8733A= (p.Pro2911=)
c.7137A= (p.Pro2379=)
n.9273A=
6g.51748620G>ACA364424278PKHD1c.8996C>T (p.Pro2999Leu)
c.8867C>T (p.Pro2956Leu)
c.8858C>T (p.Pro2953Leu)
c.8354C>T (p.Pro2785Leu)
c.8285C>T (p.Pro2762Leu)
c.3071C>T (p.Pro1024Leu)
c.8921C>T (p.Pro2974Leu)
c.8801C>T (p.Pro2934Leu)
c.8732C>T (p.Pro2911Leu)
c.7136C>T (p.Pro2379Leu)
n.9272C>T
6g.51748620G>CCA364424282PKHD1c.8996C>G (p.Pro2999Arg)
c.8867C>G (p.Pro2956Arg)
c.8858C>G (p.Pro2953Arg)
c.8354C>G (p.Pro2785Arg)
c.8285C>G (p.Pro2762Arg)
c.3071C>G (p.Pro1024Arg)
c.8921C>G (p.Pro2974Arg)
c.8801C>G (p.Pro2934Arg)
c.8732C>G (p.Pro2911Arg)
c.7136C>G (p.Pro2379Arg)
n.9272C>G
6g.51748620G>TCA364424280PKHD1c.8996C>A (p.Pro2999Gln)
c.8867C>A (p.Pro2956Gln)
c.8858C>A (p.Pro2953Gln)
c.8354C>A (p.Pro2785Gln)
c.8285C>A (p.Pro2762Gln)
c.3071C>A (p.Pro1024Gln)
c.8921C>A (p.Pro2974Gln)
c.8801C>A (p.Pro2934Gln)
c.8732C>A (p.Pro2911Gln)
c.7136C>A (p.Pro2379Gln)
n.9272C>A
6g.51748621delCA2695206435PKHD1c.8996del (p.Pro2999HisfsTer?)
c.8867del (p.Pro2956HisfsTer?)
c.8858del (p.Pro2953HisfsTer?)
c.8354del (p.Pro2785HisfsTer?)
c.8285del (p.Pro2762HisfsTer?)
c.3071del (p.Pro1024HisfsTer?)
c.8921del (p.Pro2974HisfsTer?)
c.8801del (p.Pro2934HisfsTer?)
c.8732del (p.Pro2911HisfsTer?)
c.7136del (p.Pro2379HisfsTer?)
n.9272del
6g.51748621G>ACA364424284PKHD1c.8995C>T (p.Pro2999Ser)
c.8866C>T (p.Pro2956Ser)
c.8857C>T (p.Pro2953Ser)
c.8353C>T (p.Pro2785Ser)
c.8284C>T (p.Pro2762Ser)
c.3070C>T (p.Pro1024Ser)
c.8920C>T (p.Pro2974Ser)
c.8800C>T (p.Pro2934Ser)
c.8731C>T (p.Pro2911Ser)
c.7135C>T (p.Pro2379Ser)
n.9271C>T
6g.51748621G>CCA364424285PKHD1c.8995C>G (p.Pro2999Ala)
c.8866C>G (p.Pro2956Ala)
c.8857C>G (p.Pro2953Ala)
c.8353C>G (p.Pro2785Ala)
c.8284C>G (p.Pro2762Ala)
c.3070C>G (p.Pro1024Ala)
c.8920C>G (p.Pro2974Ala)
c.8800C>G (p.Pro2934Ala)
c.8731C>G (p.Pro2911Ala)
c.7135C>G (p.Pro2379Ala)
n.9271C>G
6g.51748621G>TCA364424286PKHD1c.8995C>A (p.Pro2999Thr)
c.8866C>A (p.Pro2956Thr)
c.8857C>A (p.Pro2953Thr)
c.8353C>A (p.Pro2785Thr)
c.8284C>A (p.Pro2762Thr)
c.3070C>A (p.Pro1024Thr)
c.8920C>A (p.Pro2974Thr)
c.8800C>A (p.Pro2934Thr)
c.8731C>A (p.Pro2911Thr)
c.7135C>A (p.Pro2379Thr)
n.9271C>A
6g.51748622T>ACA450614156PKHD1c.8994A>T (p.Ser2998=)
c.8865A>T (p.Ser2955=)
c.8856A>T (p.Ser2952=)
c.8352A>T (p.Ser2784=)
c.8283A>T (p.Ser2761=)
c.3069A>T (p.Ser1023=)
c.8919A>T (p.Ser2973=)
c.8799A>T (p.Ser2933=)
c.8730A>T (p.Ser2910=)
c.7134A>T (p.Ser2378=)
n.9270A>T
6g.51748622T>CCA3851463PKHD1c.8994A>G (p.Ser2998=)
c.8865A>G (p.Ser2955=)
c.8856A>G (p.Ser2952=)
c.8352A>G (p.Ser2784=)
c.8283A>G (p.Ser2761=)
c.3069A>G (p.Ser1023=)
c.8919A>G (p.Ser2973=)
c.8799A>G (p.Ser2933=)
c.8730A>G (p.Ser2910=)
c.7134A>G (p.Ser2378=)
n.9270A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748622T>GCA450614158PKHD1c.8994A>C (p.Ser2998=)
c.8865A>C (p.Ser2955=)
c.8856A>C (p.Ser2952=)
c.8352A>C (p.Ser2784=)
c.8283A>C (p.Ser2761=)
c.3069A>C (p.Ser1023=)
c.8919A>C (p.Ser2973=)
c.8799A>C (p.Ser2933=)
c.8730A>C (p.Ser2910=)
c.7134A>C (p.Ser2378=)
n.9270A>C
6g.51748622T=CA1628503859PKHD1c.8994A= (p.Ser2998=)
c.8865A= (p.Ser2955=)
c.8856A= (p.Ser2952=)
c.8352A= (p.Ser2784=)
c.8283A= (p.Ser2761=)
c.3069A= (p.Ser1023=)
c.8919A= (p.Ser2973=)
c.8799A= (p.Ser2933=)
c.8730A= (p.Ser2910=)
c.7134A= (p.Ser2378=)
n.9270A=
6g.51748623G>ACA3851464PKHD1c.8993C>T (p.Ser2998Leu)
c.8864C>T (p.Ser2955Leu)
c.8855C>T (p.Ser2952Leu)
c.8351C>T (p.Ser2784Leu)
c.8282C>T (p.Ser2761Leu)
c.3068C>T (p.Ser1023Leu)
c.8918C>T (p.Ser2973Leu)
c.8798C>T (p.Ser2933Leu)
c.8729C>T (p.Ser2910Leu)
c.7133C>T (p.Ser2378Leu)
n.9269C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748623G>CCA364424291PKHD1c.8993C>G (p.Ser2998Ter)
c.8864C>G (p.Ser2955Ter)
c.8855C>G (p.Ser2952Ter)
c.8351C>G (p.Ser2784Ter)
c.8282C>G (p.Ser2761Ter)
c.3068C>G (p.Ser1023Ter)
c.8918C>G (p.Ser2973Ter)
c.8798C>G (p.Ser2933Ter)
c.8729C>G (p.Ser2910Ter)
c.7133C>G (p.Ser2378Ter)
n.9269C>G
6g.51748623G=CA1628503864PKHD1c.8993C= (p.Ser2998=)
c.8864C= (p.Ser2955=)
c.8855C= (p.Ser2952=)
c.8351C= (p.Ser2784=)
c.8282C= (p.Ser2761=)
c.3068C= (p.Ser1023=)
c.8918C= (p.Ser2973=)
c.8798C= (p.Ser2933=)
c.8729C= (p.Ser2910=)
c.7133C= (p.Ser2378=)
n.9269C=
6g.51748623G>TCA364424289PKHD1c.8993C>A (p.Ser2998Ter)
c.8864C>A (p.Ser2955Ter)
c.8855C>A (p.Ser2952Ter)
c.8351C>A (p.Ser2784Ter)
c.8282C>A (p.Ser2761Ter)
c.3068C>A (p.Ser1023Ter)
c.8918C>A (p.Ser2973Ter)
c.8798C>A (p.Ser2933Ter)
c.8729C>A (p.Ser2910Ter)
c.7133C>A (p.Ser2378Ter)
n.9269C>A
6g.51748624A>CCA364424293PKHD1c.8992T>G (p.Ser2998Ala)
c.8863T>G (p.Ser2955Ala)
c.8854T>G (p.Ser2952Ala)
c.8350T>G (p.Ser2784Ala)
c.8281T>G (p.Ser2761Ala)
c.3067T>G (p.Ser1023Ala)
c.8917T>G (p.Ser2973Ala)
c.8797T>G (p.Ser2933Ala)
c.8728T>G (p.Ser2910Ala)
c.7132T>G (p.Ser2378Ala)
n.9268T>G
6g.51748624A>GCA364424296PKHD1c.8992T>C (p.Ser2998Pro)
c.8863T>C (p.Ser2955Pro)
c.8854T>C (p.Ser2952Pro)
c.8350T>C (p.Ser2784Pro)
c.8281T>C (p.Ser2761Pro)
c.3067T>C (p.Ser1023Pro)
c.8917T>C (p.Ser2973Pro)
c.8797T>C (p.Ser2933Pro)
c.8728T>C (p.Ser2910Pro)
c.7132T>C (p.Ser2378Pro)
n.9268T>C
6g.51748624A>TCA364424295PKHD1c.8992T>A (p.Ser2998Thr)
c.8863T>A (p.Ser2955Thr)
c.8854T>A (p.Ser2952Thr)
c.8350T>A (p.Ser2784Thr)
c.8281T>A (p.Ser2761Thr)
c.3067T>A (p.Ser1023Thr)
c.8917T>A (p.Ser2973Thr)
c.8797T>A (p.Ser2933Thr)
c.8728T>A (p.Ser2910Thr)
c.7132T>A (p.Ser2378Thr)
n.9268T>A
6g.51748625C>ACA450614162PKHD1c.8991G>T (p.Gly2997=)
c.8862G>T (p.Gly2954=)
c.8853G>T (p.Gly2951=)
c.8349G>T (p.Gly2783=)
c.8280G>T (p.Gly2760=)
c.3066G>T (p.Gly1022=)
c.8916G>T (p.Gly2972=)
c.8796G>T (p.Gly2932=)
c.8727G>T (p.Gly2909=)
c.7131G>T (p.Gly2377=)
n.9267G>T
6g.51748625C>GCA450614163PKHD1c.8991G>C (p.Gly2997=)
c.8862G>C (p.Gly2954=)
c.8853G>C (p.Gly2951=)
c.8349G>C (p.Gly2783=)
c.8280G>C (p.Gly2760=)
c.3066G>C (p.Gly1022=)
c.8916G>C (p.Gly2972=)
c.8796G>C (p.Gly2932=)
c.8727G>C (p.Gly2909=)
c.7131G>C (p.Gly2377=)
n.9267G>C
6g.51748625C>TCA450614164PKHD1c.8991G>A (p.Gly2997=)
c.8862G>A (p.Gly2954=)
c.8853G>A (p.Gly2951=)
c.8349G>A (p.Gly2783=)
c.8280G>A (p.Gly2760=)
c.3066G>A (p.Gly1022=)
c.8916G>A (p.Gly2972=)
c.8796G>A (p.Gly2932=)
c.8727G>A (p.Gly2909=)
c.7131G>A (p.Gly2377=)
n.9267G>A
 gnomAD v4
6g.51748626C>ACA364424297PKHD1c.8990G>T (p.Gly2997Val)
c.8861G>T (p.Gly2954Val)
c.8852G>T (p.Gly2951Val)
c.8348G>T (p.Gly2783Val)
c.8279G>T (p.Gly2760Val)
c.3065G>T (p.Gly1022Val)
c.8915G>T (p.Gly2972Val)
c.8795G>T (p.Gly2932Val)
c.8726G>T (p.Gly2909Val)
c.7130G>T (p.Gly2377Val)
n.9266G>T
 gnomAD v4
6g.51748626C>GCA364424300PKHD1c.8990G>C (p.Gly2997Ala)
c.8861G>C (p.Gly2954Ala)
c.8852G>C (p.Gly2951Ala)
c.8348G>C (p.Gly2783Ala)
c.8279G>C (p.Gly2760Ala)
c.3065G>C (p.Gly1022Ala)
c.8915G>C (p.Gly2972Ala)
c.8795G>C (p.Gly2932Ala)
c.8726G>C (p.Gly2909Ala)
c.7130G>C (p.Gly2377Ala)
n.9266G>C
6g.51748626C>TCA364424298PKHD1c.8990G>A (p.Gly2997Glu)
c.8861G>A (p.Gly2954Glu)
c.8852G>A (p.Gly2951Glu)
c.8348G>A (p.Gly2783Glu)
c.8279G>A (p.Gly2760Glu)
c.3065G>A (p.Gly1022Glu)
c.8915G>A (p.Gly2972Glu)
c.8795G>A (p.Gly2932Glu)
c.8726G>A (p.Gly2909Glu)
c.7130G>A (p.Gly2377Glu)
n.9266G>A
 gnomAD v4
6g.51748627C>ACA364424302PKHD1c.8989G>T (p.Gly2997Trp)
c.8860G>T (p.Gly2954Trp)
c.8851G>T (p.Gly2951Trp)
c.8347G>T (p.Gly2783Trp)
c.8278G>T (p.Gly2760Trp)
c.3064G>T (p.Gly1022Trp)
c.8914G>T (p.Gly2972Trp)
c.8794G>T (p.Gly2932Trp)
c.8725G>T (p.Gly2909Trp)
c.7129G>T (p.Gly2377Trp)
n.9265G>T
 dbSNP gnomAD v2
6g.51748627C=CA1628503875PKHD1c.8989G= (p.Gly2997=)
c.8860G= (p.Gly2954=)
c.8851G= (p.Gly2951=)
c.8347G= (p.Gly2783=)
c.8278G= (p.Gly2760=)
c.3064G= (p.Gly1022=)
c.8914G= (p.Gly2972=)
c.8794G= (p.Gly2932=)
c.8725G= (p.Gly2909=)
c.7129G= (p.Gly2377=)
n.9265G=
6g.51748627C>GCA364424304PKHD1c.8989G>C (p.Gly2997Arg)
c.8860G>C (p.Gly2954Arg)
c.8851G>C (p.Gly2951Arg)
c.8347G>C (p.Gly2783Arg)
c.8278G>C (p.Gly2760Arg)
c.3064G>C (p.Gly1022Arg)
c.8914G>C (p.Gly2972Arg)
c.8794G>C (p.Gly2932Arg)
c.8725G>C (p.Gly2909Arg)
c.7129G>C (p.Gly2377Arg)
n.9265G>C
6g.51748627C>TCA10627197PKHD1c.8989G>A (p.Gly2997Arg)
c.8860G>A (p.Gly2954Arg)
c.8851G>A (p.Gly2951Arg)
c.8347G>A (p.Gly2783Arg)
c.8278G>A (p.Gly2760Arg)
c.3064G>A (p.Gly1022Arg)
c.8914G>A (p.Gly2972Arg)
c.8794G>A (p.Gly2932Arg)
c.8725G>A (p.Gly2909Arg)
c.7129G>A (p.Gly2377Arg)
n.9265G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.51748628G>ACA3851465PKHD1c.8988C>T (p.Phe2996=)
c.8859C>T (p.Phe2953=)
c.8850C>T (p.Phe2950=)
c.8346C>T (p.Phe2782=)
c.8277C>T (p.Phe2759=)
c.3063C>T (p.Phe1021=)
c.8913C>T (p.Phe2971=)
c.8793C>T (p.Phe2931=)
c.8724C>T (p.Phe2908=)
c.7128C>T (p.Phe2376=)
n.9264C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51748628G>CCA364424309PKHD1c.8988C>G (p.Phe2996Leu)
c.8859C>G (p.Phe2953Leu)
c.8850C>G (p.Phe2950Leu)
c.8346C>G (p.Phe2782Leu)
c.8277C>G (p.Phe2759Leu)
c.3063C>G (p.Phe1021Leu)
c.8913C>G (p.Phe2971Leu)
c.8793C>G (p.Phe2931Leu)
c.8724C>G (p.Phe2908Leu)
c.7128C>G (p.Phe2376Leu)
n.9264C>G
6g.51748628G=CA1628503879PKHD1c.8988C= (p.Phe2996=)
c.8859C= (p.Phe2953=)
c.8850C= (p.Phe2950=)
c.8346C= (p.Phe2782=)
c.8277C= (p.Phe2759=)
c.3063C= (p.Phe1021=)
c.8913C= (p.Phe2971=)
c.8793C= (p.Phe2931=)
c.8724C= (p.Phe2908=)
c.7128C= (p.Phe2376=)
n.9264C=
6g.51748628G>TCA364424311PKHD1c.8988C>A (p.Phe2996Leu)
c.8859C>A (p.Phe2953Leu)
c.8850C>A (p.Phe2950Leu)
c.8346C>A (p.Phe2782Leu)
c.8277C>A (p.Phe2759Leu)
c.3063C>A (p.Phe1021Leu)
c.8913C>A (p.Phe2971Leu)
c.8793C>A (p.Phe2931Leu)
c.8724C>A (p.Phe2908Leu)
c.7128C>A (p.Phe2376Leu)
n.9264C>A
6g.51748629A=CA1628503884PKHD1c.8987T= (p.Phe2996=)
c.8858T= (p.Phe2953=)
c.8849T= (p.Phe2950=)
c.8345T= (p.Phe2782=)
c.8276T= (p.Phe2759=)
c.3062T= (p.Phe1021=)
c.8912T= (p.Phe2971=)
c.8792T= (p.Phe2931=)
c.8723T= (p.Phe2908=)
c.7127T= (p.Phe2376=)
n.9263T=
6g.51748629A>CCA3851466PKHD1c.8987T>G (p.Phe2996Cys)
c.8858T>G (p.Phe2953Cys)
c.8849T>G (p.Phe2950Cys)
c.8345T>G (p.Phe2782Cys)
c.8276T>G (p.Phe2759Cys)
c.3062T>G (p.Phe1021Cys)
c.8912T>G (p.Phe2971Cys)
c.8792T>G (p.Phe2931Cys)
c.8723T>G (p.Phe2908Cys)
c.7127T>G (p.Phe2376Cys)
n.9263T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748629A>GCA364424313PKHD1c.8987T>C (p.Phe2996Ser)
c.8858T>C (p.Phe2953Ser)
c.8849T>C (p.Phe2950Ser)
c.8345T>C (p.Phe2782Ser)
c.8276T>C (p.Phe2759Ser)
c.3062T>C (p.Phe1021Ser)
c.8912T>C (p.Phe2971Ser)
c.8792T>C (p.Phe2931Ser)
c.8723T>C (p.Phe2908Ser)
c.7127T>C (p.Phe2376Ser)
n.9263T>C
 COSMIC COSMIC
6g.51748629A>TCA364424315PKHD1c.8987T>A (p.Phe2996Tyr)
c.8858T>A (p.Phe2953Tyr)
c.8849T>A (p.Phe2950Tyr)
c.8345T>A (p.Phe2782Tyr)
c.8276T>A (p.Phe2759Tyr)
c.3062T>A (p.Phe1021Tyr)
c.8912T>A (p.Phe2971Tyr)
c.8792T>A (p.Phe2931Tyr)
c.8723T>A (p.Phe2908Tyr)
c.7127T>A (p.Phe2376Tyr)
n.9263T>A
6g.51748630dupCA2580075493PKHD1c.8987dup (p.Gly2997ArgfsTer9)
c.8858dup (p.Gly2954ArgfsTer9)
c.8849dup (p.Gly2951ArgfsTer9)
c.8345dup (p.Gly2783ArgfsTer9)
c.8276dup (p.Gly2760ArgfsTer9)
c.3062dup (p.Gly1022ArgfsTer9)
c.8912dup (p.Gly2972ArgfsTer9)
c.8792dup (p.Gly2932ArgfsTer9)
c.8723dup (p.Gly2909ArgfsTer9)
c.7127dup (p.Gly2377ArgfsTer9)
n.9263dup
 ClinVar
6g.51748630A>CCA364424318PKHD1c.8986T>G (p.Phe2996Val)
c.8857T>G (p.Phe2953Val)
c.8848T>G (p.Phe2950Val)
c.8344T>G (p.Phe2782Val)
c.8275T>G (p.Phe2759Val)
c.3061T>G (p.Phe1021Val)
c.8911T>G (p.Phe2971Val)
c.8791T>G (p.Phe2931Val)
c.8722T>G (p.Phe2908Val)
c.7126T>G (p.Phe2376Val)
n.9262T>G
6g.51748630A>GCA364424320PKHD1c.8986T>C (p.Phe2996Leu)
c.8857T>C (p.Phe2953Leu)
c.8848T>C (p.Phe2950Leu)
c.8344T>C (p.Phe2782Leu)
c.8275T>C (p.Phe2759Leu)
c.3061T>C (p.Phe1021Leu)
c.8911T>C (p.Phe2971Leu)
c.8791T>C (p.Phe2931Leu)
c.8722T>C (p.Phe2908Leu)
c.7126T>C (p.Phe2376Leu)
n.9262T>C
6g.51748630A>TCA364424322PKHD1c.8986T>A (p.Phe2996Ile)
c.8857T>A (p.Phe2953Ile)
c.8848T>A (p.Phe2950Ile)
c.8344T>A (p.Phe2782Ile)
c.8275T>A (p.Phe2759Ile)
c.3061T>A (p.Phe1021Ile)
c.8911T>A (p.Phe2971Ile)
c.8791T>A (p.Phe2931Ile)
c.8722T>A (p.Phe2908Ile)
c.7126T>A (p.Phe2376Ile)
n.9262T>A
6g.51748631G>ACA450614169PKHD1c.8985C>T (p.Asn2995=)
c.8856C>T (p.Asn2952=)
c.8847C>T (p.Asn2949=)
c.8343C>T (p.Asn2781=)
c.8274C>T (p.Asn2758=)
c.3060C>T (p.Asn1020=)
c.8910C>T (p.Asn2970=)
c.8790C>T (p.Asn2930=)
c.8721C>T (p.Asn2907=)
c.7125C>T (p.Asn2375=)
n.9261C>T
6g.51748631G>CCA364424324PKHD1c.8985C>G (p.Asn2995Lys)
c.8856C>G (p.Asn2952Lys)
c.8847C>G (p.Asn2949Lys)
c.8343C>G (p.Asn2781Lys)
c.8274C>G (p.Asn2758Lys)
c.3060C>G (p.Asn1020Lys)
c.8910C>G (p.Asn2970Lys)
c.8790C>G (p.Asn2930Lys)
c.8721C>G (p.Asn2907Lys)
c.7125C>G (p.Asn2375Lys)
n.9261C>G
6g.51748631G>TCA364424325PKHD1c.8985C>A (p.Asn2995Lys)
c.8856C>A (p.Asn2952Lys)
c.8847C>A (p.Asn2949Lys)
c.8343C>A (p.Asn2781Lys)
c.8274C>A (p.Asn2758Lys)
c.3060C>A (p.Asn1020Lys)
c.8910C>A (p.Asn2970Lys)
c.8790C>A (p.Asn2930Lys)
c.8721C>A (p.Asn2907Lys)
c.7125C>A (p.Asn2375Lys)
n.9261C>A
6g.51748632T>ACA364424329PKHD1c.8984A>T (p.Asn2995Ile)
c.8855A>T (p.Asn2952Ile)
c.8846A>T (p.Asn2949Ile)
c.8342A>T (p.Asn2781Ile)
c.8273A>T (p.Asn2758Ile)
c.3059A>T (p.Asn1020Ile)
c.8909A>T (p.Asn2970Ile)
c.8789A>T (p.Asn2930Ile)
c.8720A>T (p.Asn2907Ile)
c.7124A>T (p.Asn2375Ile)
n.9260A>T
6g.51748632T>CCA364424326PKHD1c.8984A>G (p.Asn2995Ser)
c.8855A>G (p.Asn2952Ser)
c.8846A>G (p.Asn2949Ser)
c.8342A>G (p.Asn2781Ser)
c.8273A>G (p.Asn2758Ser)
c.3059A>G (p.Asn1020Ser)
c.8909A>G (p.Asn2970Ser)
c.8789A>G (p.Asn2930Ser)
c.8720A>G (p.Asn2907Ser)
c.7124A>G (p.Asn2375Ser)
n.9260A>G
6g.51748632T>GCA364424327PKHD1c.8984A>C (p.Asn2995Thr)
c.8855A>C (p.Asn2952Thr)
c.8846A>C (p.Asn2949Thr)
c.8342A>C (p.Asn2781Thr)
c.8273A>C (p.Asn2758Thr)
c.3059A>C (p.Asn1020Thr)
c.8909A>C (p.Asn2970Thr)
c.8789A>C (p.Asn2930Thr)
c.8720A>C (p.Asn2907Thr)
c.7124A>C (p.Asn2375Thr)
n.9260A>C
6g.51748633T>ACA364424330PKHD1c.8983A>T (p.Asn2995Tyr)
c.8854A>T (p.Asn2952Tyr)
c.8845A>T (p.Asn2949Tyr)
c.8341A>T (p.Asn2781Tyr)
c.8272A>T (p.Asn2758Tyr)
c.3058A>T (p.Asn1020Tyr)
c.8908A>T (p.Asn2970Tyr)
c.8788A>T (p.Asn2930Tyr)
c.8719A>T (p.Asn2907Tyr)
c.7123A>T (p.Asn2375Tyr)
n.9259A>T
6g.51748633T>CCA364424332PKHD1c.8983A>G (p.Asn2995Asp)
c.8854A>G (p.Asn2952Asp)
c.8845A>G (p.Asn2949Asp)
c.8341A>G (p.Asn2781Asp)
c.8272A>G (p.Asn2758Asp)
c.3058A>G (p.Asn1020Asp)
c.8908A>G (p.Asn2970Asp)
c.8788A>G (p.Asn2930Asp)
c.8719A>G (p.Asn2907Asp)
c.7123A>G (p.Asn2375Asp)
n.9259A>G
6g.51748633T>GCA364424334PKHD1c.8983A>C (p.Asn2995His)
c.8854A>C (p.Asn2952His)
c.8845A>C (p.Asn2949His)
c.8341A>C (p.Asn2781His)
c.8272A>C (p.Asn2758His)
c.3058A>C (p.Asn1020His)
c.8908A>C (p.Asn2970His)
c.8788A>C (p.Asn2930His)
c.8719A>C (p.Asn2907His)
c.7123A>C (p.Asn2375His)
n.9259A>C
6g.51748634C>ACA364424339PKHD1c.8982G>T (p.Gln2994His)
c.8853G>T (p.Gln2951His)
c.8844G>T (p.Gln2948His)
c.8340G>T (p.Gln2780His)
c.8271G>T (p.Gln2757His)
c.3057G>T (p.Gln1019His)
c.8907G>T (p.Gln2969His)
c.8787G>T (p.Gln2929His)
c.8718G>T (p.Gln2906His)
c.7122G>T (p.Gln2374His)
n.9258G>T
 dbSNP gnomAD v3 gnomAD v4
6g.51748634C=CA1628503887PKHD1c.8982G= (p.Gln2994=)
c.8853G= (p.Gln2951=)
c.8844G= (p.Gln2948=)
c.8340G= (p.Gln2780=)
c.8271G= (p.Gln2757=)
c.3057G= (p.Gln1019=)
c.8907G= (p.Gln2969=)
c.8787G= (p.Gln2929=)
c.8718G= (p.Gln2906=)
c.7122G= (p.Gln2374=)
n.9258G=
6g.51748634C>GCA364424344PKHD1c.8982G>C (p.Gln2994His)
c.8853G>C (p.Gln2951His)
c.8844G>C (p.Gln2948His)
c.8340G>C (p.Gln2780His)
c.8271G>C (p.Gln2757His)
c.3057G>C (p.Gln1019His)
c.8907G>C (p.Gln2969His)
c.8787G>C (p.Gln2929His)
c.8718G>C (p.Gln2906His)
c.7122G>C (p.Gln2374His)
n.9258G>C
6g.51748634C>TCA450614177PKHD1c.8982G>A (p.Gln2994=)
c.8853G>A (p.Gln2951=)
c.8844G>A (p.Gln2948=)
c.8340G>A (p.Gln2780=)
c.8271G>A (p.Gln2757=)
c.3057G>A (p.Gln1019=)
c.8907G>A (p.Gln2969=)
c.8787G>A (p.Gln2929=)
c.8718G>A (p.Gln2906=)
c.7122G>A (p.Gln2374=)
n.9258G>A
6g.51748635T>ACA364424346PKHD1c.8981A>T (p.Gln2994Leu)
c.8852A>T (p.Gln2951Leu)
c.8843A>T (p.Gln2948Leu)
c.8339A>T (p.Gln2780Leu)
c.8270A>T (p.Gln2757Leu)
c.3056A>T (p.Gln1019Leu)
c.8906A>T (p.Gln2969Leu)
c.8786A>T (p.Gln2929Leu)
c.8717A>T (p.Gln2906Leu)
c.7121A>T (p.Gln2374Leu)
n.9257A>T
6g.51748635T>CCA364424354PKHD1c.8981A>G (p.Gln2994Arg)
c.8852A>G (p.Gln2951Arg)
c.8843A>G (p.Gln2948Arg)
c.8339A>G (p.Gln2780Arg)
c.8270A>G (p.Gln2757Arg)
c.3056A>G (p.Gln1019Arg)
c.8906A>G (p.Gln2969Arg)
c.8786A>G (p.Gln2929Arg)
c.8717A>G (p.Gln2906Arg)
c.7121A>G (p.Gln2374Arg)
n.9257A>G
 dbSNP
6g.51748635T>GCA364424356PKHD1c.8981A>C (p.Gln2994Pro)
c.8852A>C (p.Gln2951Pro)
c.8843A>C (p.Gln2948Pro)
c.8339A>C (p.Gln2780Pro)
c.8270A>C (p.Gln2757Pro)
c.3056A>C (p.Gln1019Pro)
c.8906A>C (p.Gln2969Pro)
c.8786A>C (p.Gln2929Pro)
c.8717A>C (p.Gln2906Pro)
c.7121A>C (p.Gln2374Pro)
n.9257A>C
6g.51748635T=CA1628503889PKHD1c.8981A= (p.Gln2994=)
c.8852A= (p.Gln2951=)
c.8843A= (p.Gln2948=)
c.8339A= (p.Gln2780=)
c.8270A= (p.Gln2757=)
c.3056A= (p.Gln1019=)
c.8906A= (p.Gln2969=)
c.8786A= (p.Gln2929=)
c.8717A= (p.Gln2906=)
c.7121A= (p.Gln2374=)
n.9257A=
6g.51748636G>ACA364424358PKHD1c.8980C>T (p.Gln2994Ter)
c.8851C>T (p.Gln2951Ter)
c.8842C>T (p.Gln2948Ter)
c.8338C>T (p.Gln2780Ter)
c.8269C>T (p.Gln2757Ter)
c.3055C>T (p.Gln1019Ter)
c.8905C>T (p.Gln2969Ter)
c.8785C>T (p.Gln2929Ter)
c.8716C>T (p.Gln2906Ter)
c.7120C>T (p.Gln2374Ter)
n.9256C>T
 ClinVar dbSNP gnomAD v4
6g.51748636G>CCA364424359PKHD1c.8980C>G (p.Gln2994Glu)
c.8851C>G (p.Gln2951Glu)
c.8842C>G (p.Gln2948Glu)
c.8338C>G (p.Gln2780Glu)
c.8269C>G (p.Gln2757Glu)
c.3055C>G (p.Gln1019Glu)
c.8905C>G (p.Gln2969Glu)
c.8785C>G (p.Gln2929Glu)
c.8716C>G (p.Gln2906Glu)
c.7120C>G (p.Gln2374Glu)
n.9256C>G
 gnomAD v4
6g.51748636G>TCA364424362PKHD1c.8980C>A (p.Gln2994Lys)
c.8851C>A (p.Gln2951Lys)
c.8842C>A (p.Gln2948Lys)
c.8338C>A (p.Gln2780Lys)
c.8269C>A (p.Gln2757Lys)
c.3055C>A (p.Gln1019Lys)
c.8905C>A (p.Gln2969Lys)
c.8785C>A (p.Gln2929Lys)
c.8716C>A (p.Gln2906Lys)
c.7120C>A (p.Gln2374Lys)
n.9256C>A
6g.51748637A>CCA364424365PKHD1c.8979T>G (p.Ile2993Met)
c.8850T>G (p.Ile2950Met)
c.8841T>G (p.Ile2947Met)
c.8337T>G (p.Ile2779Met)
c.8268T>G (p.Ile2756Met)
c.3054T>G (p.Ile1018Met)
c.8904T>G (p.Ile2968Met)
c.8784T>G (p.Ile2928Met)
c.8715T>G (p.Ile2905Met)
c.7119T>G (p.Ile2373Met)
n.9255T>G
6g.51748637A>GCA450614181PKHD1c.8979T>C (p.Ile2993=)
c.8850T>C (p.Ile2950=)
c.8841T>C (p.Ile2947=)
c.8337T>C (p.Ile2779=)
c.8268T>C (p.Ile2756=)
c.3054T>C (p.Ile1018=)
c.8904T>C (p.Ile2968=)
c.8784T>C (p.Ile2928=)
c.8715T>C (p.Ile2905=)
c.7119T>C (p.Ile2373=)
n.9255T>C
6g.51748637A>TCA450614182PKHD1c.8979T>A (p.Ile2993=)
c.8850T>A (p.Ile2950=)
c.8841T>A (p.Ile2947=)
c.8337T>A (p.Ile2779=)
c.8268T>A (p.Ile2756=)
c.3054T>A (p.Ile1018=)
c.8904T>A (p.Ile2968=)
c.8784T>A (p.Ile2928=)
c.8715T>A (p.Ile2905=)
c.7119T>A (p.Ile2373=)
n.9255T>A
6g.51748638A>CCA364424370PKHD1c.8978T>G (p.Ile2993Ser)
c.8849T>G (p.Ile2950Ser)
c.8840T>G (p.Ile2947Ser)
c.8336T>G (p.Ile2779Ser)
c.8267T>G (p.Ile2756Ser)
c.3053T>G (p.Ile1018Ser)
c.8903T>G (p.Ile2968Ser)
c.8783T>G (p.Ile2928Ser)
c.8714T>G (p.Ile2905Ser)
c.7118T>G (p.Ile2373Ser)
n.9254T>G
6g.51748638A>GCA364424377PKHD1c.8978T>C (p.Ile2993Thr)
c.8849T>C (p.Ile2950Thr)
c.8840T>C (p.Ile2947Thr)
c.8336T>C (p.Ile2779Thr)
c.8267T>C (p.Ile2756Thr)
c.3053T>C (p.Ile1018Thr)
c.8903T>C (p.Ile2968Thr)
c.8783T>C (p.Ile2928Thr)
c.8714T>C (p.Ile2905Thr)
c.7118T>C (p.Ile2373Thr)
n.9254T>C
6g.51748638A>TCA364424373PKHD1c.8978T>A (p.Ile2993Asn)
c.8849T>A (p.Ile2950Asn)
c.8840T>A (p.Ile2947Asn)
c.8336T>A (p.Ile2779Asn)
c.8267T>A (p.Ile2756Asn)
c.3053T>A (p.Ile1018Asn)
c.8903T>A (p.Ile2968Asn)
c.8783T>A (p.Ile2928Asn)
c.8714T>A (p.Ile2905Asn)
c.7118T>A (p.Ile2373Asn)
n.9254T>A
6g.51748639T>ACA364424380PKHD1c.8977A>T (p.Ile2993Phe)
c.8848A>T (p.Ile2950Phe)
c.8839A>T (p.Ile2947Phe)
c.8335A>T (p.Ile2779Phe)
c.8266A>T (p.Ile2756Phe)
c.3052A>T (p.Ile1018Phe)
c.8902A>T (p.Ile2968Phe)
c.8782A>T (p.Ile2928Phe)
c.8713A>T (p.Ile2905Phe)
c.7117A>T (p.Ile2373Phe)
n.9253A>T
 gnomAD v4
6g.51748639T>CCA364424383PKHD1c.8977A>G (p.Ile2993Val)
c.8848A>G (p.Ile2950Val)
c.8839A>G (p.Ile2947Val)
c.8335A>G (p.Ile2779Val)
c.8266A>G (p.Ile2756Val)
c.3052A>G (p.Ile1018Val)
c.8902A>G (p.Ile2968Val)
c.8782A>G (p.Ile2928Val)
c.8713A>G (p.Ile2905Val)
c.7117A>G (p.Ile2373Val)
n.9253A>G
 gnomAD v4
6g.51748639T>GCA364424385PKHD1c.8977A>C (p.Ile2993Leu)
c.8848A>C (p.Ile2950Leu)
c.8839A>C (p.Ile2947Leu)
c.8335A>C (p.Ile2779Leu)
c.8266A>C (p.Ile2756Leu)
c.3052A>C (p.Ile1018Leu)
c.8902A>C (p.Ile2968Leu)
c.8782A>C (p.Ile2928Leu)
c.8713A>C (p.Ile2905Leu)
c.7117A>C (p.Ile2373Leu)
n.9253A>C
6g.51748640T>ACA364424388PKHD1c.8976A>T (p.Glu2992Asp)
c.8847A>T (p.Glu2949Asp)
c.8838A>T (p.Glu2946Asp)
c.8334A>T (p.Glu2778Asp)
c.8265A>T (p.Glu2755Asp)
c.3051A>T (p.Glu1017Asp)
c.8901A>T (p.Glu2967Asp)
c.8781A>T (p.Glu2927Asp)
c.8712A>T (p.Glu2904Asp)
c.7116A>T (p.Glu2372Asp)
n.9252A>T
6g.51748640T>CCA450614185PKHD1c.8976A>G (p.Glu2992=)
c.8847A>G (p.Glu2949=)
c.8838A>G (p.Glu2946=)
c.8334A>G (p.Glu2778=)
c.8265A>G (p.Glu2755=)
c.3051A>G (p.Glu1017=)
c.8901A>G (p.Glu2967=)
c.8781A>G (p.Glu2927=)
c.8712A>G (p.Glu2904=)
c.7116A>G (p.Glu2372=)
n.9252A>G
 gnomAD v4
6g.51748640T>GCA364424389PKHD1c.8976A>C (p.Glu2992Asp)
c.8847A>C (p.Glu2949Asp)
c.8838A>C (p.Glu2946Asp)
c.8334A>C (p.Glu2778Asp)
c.8265A>C (p.Glu2755Asp)
c.3051A>C (p.Glu1017Asp)
c.8901A>C (p.Glu2967Asp)
c.8781A>C (p.Glu2927Asp)
c.8712A>C (p.Glu2904Asp)
c.7116A>C (p.Glu2372Asp)
n.9252A>C
6g.51748641T>ACA364424392PKHD1c.8975A>T (p.Glu2992Val)
c.8846A>T (p.Glu2949Val)
c.8837A>T (p.Glu2946Val)
c.8333A>T (p.Glu2778Val)
c.8264A>T (p.Glu2755Val)
c.3050A>T (p.Glu1017Val)
c.8900A>T (p.Glu2967Val)
c.8780A>T (p.Glu2927Val)
c.8711A>T (p.Glu2904Val)
c.7115A>T (p.Glu2372Val)
n.9251A>T
6g.51748641T>CCA364424393PKHD1c.8975A>G (p.Glu2992Gly)
c.8846A>G (p.Glu2949Gly)
c.8837A>G (p.Glu2946Gly)
c.8333A>G (p.Glu2778Gly)
c.8264A>G (p.Glu2755Gly)
c.3050A>G (p.Glu1017Gly)
c.8900A>G (p.Glu2967Gly)
c.8780A>G (p.Glu2927Gly)
c.8711A>G (p.Glu2904Gly)
c.7115A>G (p.Glu2372Gly)
n.9251A>G
6g.51748641T>GCA364424394PKHD1c.8975A>C (p.Glu2992Ala)
c.8846A>C (p.Glu2949Ala)
c.8837A>C (p.Glu2946Ala)
c.8333A>C (p.Glu2778Ala)
c.8264A>C (p.Glu2755Ala)
c.3050A>C (p.Glu1017Ala)
c.8900A>C (p.Glu2967Ala)
c.8780A>C (p.Glu2927Ala)
c.8711A>C (p.Glu2904Ala)
c.7115A>C (p.Glu2372Ala)
n.9251A>C
6g.51748642C>ACA364424396PKHD1c.8974G>T (p.Glu2992Ter)
c.8845G>T (p.Glu2949Ter)
c.8836G>T (p.Glu2946Ter)
c.8332G>T (p.Glu2778Ter)
c.8263G>T (p.Glu2755Ter)
c.3049G>T (p.Glu1017Ter)
c.8899G>T (p.Glu2967Ter)
c.8779G>T (p.Glu2927Ter)
c.8710G>T (p.Glu2904Ter)
c.7114G>T (p.Glu2372Ter)
n.9250G>T
6g.51748642C>GCA364424399PKHD1c.8974G>C (p.Glu2992Gln)
c.8845G>C (p.Glu2949Gln)
c.8836G>C (p.Glu2946Gln)
c.8332G>C (p.Glu2778Gln)
c.8263G>C (p.Glu2755Gln)
c.3049G>C (p.Glu1017Gln)
c.8899G>C (p.Glu2967Gln)
c.8779G>C (p.Glu2927Gln)
c.8710G>C (p.Glu2904Gln)
c.7114G>C (p.Glu2372Gln)
n.9250G>C
6g.51748642C>TCA364424401PKHD1c.8974G>A (p.Glu2992Lys)
c.8845G>A (p.Glu2949Lys)
c.8836G>A (p.Glu2946Lys)
c.8332G>A (p.Glu2778Lys)
c.8263G>A (p.Glu2755Lys)
c.3049G>A (p.Glu1017Lys)
c.8899G>A (p.Glu2967Lys)
c.8779G>A (p.Glu2927Lys)
c.8710G>A (p.Glu2904Lys)
c.7114G>A (p.Glu2372Lys)
n.9250G>A
6g.51748643C>ACA450614188PKHD1c.8973G>T (p.Val2991=)
c.8844G>T (p.Val2948=)
c.8835G>T (p.Val2945=)
c.8331G>T (p.Val2777=)
c.8262G>T (p.Val2754=)
c.3048G>T (p.Val1016=)
c.8898G>T (p.Val2966=)
c.8778G>T (p.Val2926=)
c.8709G>T (p.Val2903=)
c.7113G>T (p.Val2371=)
n.9249G>T
6g.51748643C>GCA450614192PKHD1c.8973G>C (p.Val2991=)
c.8844G>C (p.Val2948=)
c.8835G>C (p.Val2945=)
c.8331G>C (p.Val2777=)
c.8262G>C (p.Val2754=)
c.3048G>C (p.Val1016=)
c.8898G>C (p.Val2966=)
c.8778G>C (p.Val2926=)
c.8709G>C (p.Val2903=)
c.7113G>C (p.Val2371=)
n.9249G>C
6g.51748643C>TCA450614189PKHD1c.8973G>A (p.Val2991=)
c.8844G>A (p.Val2948=)
c.8835G>A (p.Val2945=)
c.8331G>A (p.Val2777=)
c.8262G>A (p.Val2754=)
c.3048G>A (p.Val1016=)
c.8898G>A (p.Val2966=)
c.8778G>A (p.Val2926=)
c.8709G>A (p.Val2903=)
c.7113G>A (p.Val2371=)
n.9249G>A
 COSMIC COSMIC
6g.51748644A>CCA364424409PKHD1c.8972T>G (p.Val2991Gly)
c.8843T>G (p.Val2948Gly)
c.8834T>G (p.Val2945Gly)
c.8330T>G (p.Val2777Gly)
c.8261T>G (p.Val2754Gly)
c.3047T>G (p.Val1016Gly)
c.8897T>G (p.Val2966Gly)
c.8777T>G (p.Val2926Gly)
c.8708T>G (p.Val2903Gly)
c.7112T>G (p.Val2371Gly)
n.9248T>G
6g.51748644A>GCA364424407PKHD1c.8972T>C (p.Val2991Ala)
c.8843T>C (p.Val2948Ala)
c.8834T>C (p.Val2945Ala)
c.8330T>C (p.Val2777Ala)
c.8261T>C (p.Val2754Ala)
c.3047T>C (p.Val1016Ala)
c.8897T>C (p.Val2966Ala)
c.8777T>C (p.Val2926Ala)
c.8708T>C (p.Val2903Ala)
c.7112T>C (p.Val2371Ala)
n.9248T>C
 gnomAD v4
6g.51748644A>TCA364424403PKHD1c.8972T>A (p.Val2991Glu)
c.8843T>A (p.Val2948Glu)
c.8834T>A (p.Val2945Glu)
c.8330T>A (p.Val2777Glu)
c.8261T>A (p.Val2754Glu)
c.3047T>A (p.Val1016Glu)
c.8897T>A (p.Val2966Glu)
c.8777T>A (p.Val2926Glu)
c.8708T>A (p.Val2903Glu)
c.7112T>A (p.Val2371Glu)
n.9248T>A
6g.51748645C>ACA364424414PKHD1c.8971G>T (p.Val2991Leu)
c.8842G>T (p.Val2948Leu)
c.8833G>T (p.Val2945Leu)
c.8329G>T (p.Val2777Leu)
c.8260G>T (p.Val2754Leu)
c.3046G>T (p.Val1016Leu)
c.8896G>T (p.Val2966Leu)
c.8776G>T (p.Val2926Leu)
c.8707G>T (p.Val2903Leu)
c.7111G>T (p.Val2371Leu)
n.9247G>T
6g.51748645C>GCA364424418PKHD1c.8971G>C (p.Val2991Leu)
c.8842G>C (p.Val2948Leu)
c.8833G>C (p.Val2945Leu)
c.8329G>C (p.Val2777Leu)
c.8260G>C (p.Val2754Leu)
c.3046G>C (p.Val1016Leu)
c.8896G>C (p.Val2966Leu)
c.8776G>C (p.Val2926Leu)
c.8707G>C (p.Val2903Leu)
c.7111G>C (p.Val2371Leu)
n.9247G>C
6g.51748645C>TCA364424420PKHD1c.8971G>A (p.Val2991Met)
c.8842G>A (p.Val2948Met)
c.8833G>A (p.Val2945Met)
c.8329G>A (p.Val2777Met)
c.8260G>A (p.Val2754Met)
c.3046G>A (p.Val1016Met)
c.8896G>A (p.Val2966Met)
c.8776G>A (p.Val2926Met)
c.8707G>A (p.Val2903Met)
c.7111G>A (p.Val2371Met)
n.9247G>A
6g.51748646A=CA1628503897PKHD1c.8970T= (p.Asn2990=)
c.8841T= (p.Asn2947=)
c.8832T= (p.Asn2944=)
c.8328T= (p.Asn2776=)
c.8259T= (p.Asn2753=)
c.3045T= (p.Asn1015=)
c.8895T= (p.Asn2965=)
c.8775T= (p.Asn2925=)
c.8706T= (p.Asn2902=)
c.7110T= (p.Asn2370=)
n.9246T=
6g.51748646A>CCA364424422PKHD1c.8970T>G (p.Asn2990Lys)
c.8841T>G (p.Asn2947Lys)
c.8832T>G (p.Asn2944Lys)
c.8328T>G (p.Asn2776Lys)
c.8259T>G (p.Asn2753Lys)
c.3045T>G (p.Asn1015Lys)
c.8895T>G (p.Asn2965Lys)
c.8775T>G (p.Asn2925Lys)
c.8706T>G (p.Asn2902Lys)
c.7110T>G (p.Asn2370Lys)
n.9246T>G
6g.51748646A>GCA450614196PKHD1c.8970T>C (p.Asn2990=)
c.8841T>C (p.Asn2947=)
c.8832T>C (p.Asn2944=)
c.8328T>C (p.Asn2776=)
c.8259T>C (p.Asn2753=)
c.3045T>C (p.Asn1015=)
c.8895T>C (p.Asn2965=)
c.8775T>C (p.Asn2925=)
c.8706T>C (p.Asn2902=)
c.7110T>C (p.Asn2370=)
n.9246T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51748646A>TCA364424423PKHD1c.8970T>A (p.Asn2990Lys)
c.8841T>A (p.Asn2947Lys)
c.8832T>A (p.Asn2944Lys)
c.8328T>A (p.Asn2776Lys)
c.8259T>A (p.Asn2753Lys)
c.3045T>A (p.Asn1015Lys)
c.8895T>A (p.Asn2965Lys)
c.8775T>A (p.Asn2925Lys)
c.8706T>A (p.Asn2902Lys)
c.7110T>A (p.Asn2370Lys)
n.9246T>A
 dbSNP gnomAD v4
6g.51748647T>ACA364424424PKHD1c.8969A>T (p.Asn2990Ile)
c.8840A>T (p.Asn2947Ile)
c.8831A>T (p.Asn2944Ile)
c.8327A>T (p.Asn2776Ile)
c.8258A>T (p.Asn2753Ile)
c.3044A>T (p.Asn1015Ile)
c.8894A>T (p.Asn2965Ile)
c.8774A>T (p.Asn2925Ile)
c.8705A>T (p.Asn2902Ile)
c.7109A>T (p.Asn2370Ile)
n.9245A>T
6g.51748647T>CCA364424425PKHD1c.8969A>G (p.Asn2990Ser)
c.8840A>G (p.Asn2947Ser)
c.8831A>G (p.Asn2944Ser)
c.8327A>G (p.Asn2776Ser)
c.8258A>G (p.Asn2753Ser)
c.3044A>G (p.Asn1015Ser)
c.8894A>G (p.Asn2965Ser)
c.8774A>G (p.Asn2925Ser)
c.8705A>G (p.Asn2902Ser)
c.7109A>G (p.Asn2370Ser)
n.9245A>G
6g.51748647T>GCA364424426PKHD1c.8969A>C (p.Asn2990Thr)
c.8840A>C (p.Asn2947Thr)
c.8831A>C (p.Asn2944Thr)
c.8327A>C (p.Asn2776Thr)
c.8258A>C (p.Asn2753Thr)
c.3044A>C (p.Asn1015Thr)
c.8894A>C (p.Asn2965Thr)
c.8774A>C (p.Asn2925Thr)
c.8705A>C (p.Asn2902Thr)
c.7109A>C (p.Asn2370Thr)
n.9245A>C
6g.51748648T>ACA364424429PKHD1c.8968A>T (p.Asn2990Tyr)
c.8839A>T (p.Asn2947Tyr)
c.8830A>T (p.Asn2944Tyr)
c.8326A>T (p.Asn2776Tyr)
c.8257A>T (p.Asn2753Tyr)
c.3043A>T (p.Asn1015Tyr)
c.8893A>T (p.Asn2965Tyr)
c.8773A>T (p.Asn2925Tyr)
c.8704A>T (p.Asn2902Tyr)
c.7108A>T (p.Asn2370Tyr)
n.9244A>T
6g.51748648T>CCA364424435PKHD1c.8968A>G (p.Asn2990Asp)
c.8839A>G (p.Asn2947Asp)
c.8830A>G (p.Asn2944Asp)
c.8326A>G (p.Asn2776Asp)
c.8257A>G (p.Asn2753Asp)
c.3043A>G (p.Asn1015Asp)
c.8893A>G (p.Asn2965Asp)
c.8773A>G (p.Asn2925Asp)
c.8704A>G (p.Asn2902Asp)
c.7108A>G (p.Asn2370Asp)
n.9244A>G
6g.51748648T>GCA364424438PKHD1c.8968A>C (p.Asn2990His)
c.8839A>C (p.Asn2947His)
c.8830A>C (p.Asn2944His)
c.8326A>C (p.Asn2776His)
c.8257A>C (p.Asn2753His)
c.3043A>C (p.Asn1015His)
c.8893A>C (p.Asn2965His)
c.8773A>C (p.Asn2925His)
c.8704A>C (p.Asn2902His)
c.7108A>C (p.Asn2370His)
n.9244A>C
6g.51748649A>CCA450614200PKHD1c.8967T>G (p.Leu2989=)
c.8838T>G (p.Leu2946=)
c.8829T>G (p.Leu2943=)
c.8325T>G (p.Leu2775=)
c.8256T>G (p.Leu2752=)
c.3042T>G (p.Leu1014=)
c.8892T>G (p.Leu2964=)
c.8772T>G (p.Leu2924=)
c.8703T>G (p.Leu2901=)
c.7107T>G (p.Leu2369=)
n.9243T>G
6g.51748649A>GCA450614201PKHD1c.8967T>C (p.Leu2989=)
c.8838T>C (p.Leu2946=)
c.8829T>C (p.Leu2943=)
c.8325T>C (p.Leu2775=)
c.8256T>C (p.Leu2752=)
c.3042T>C (p.Leu1014=)
c.8892T>C (p.Leu2964=)
c.8772T>C (p.Leu2924=)
c.8703T>C (p.Leu2901=)
c.7107T>C (p.Leu2369=)
n.9243T>C
6g.51748649A>TCA450614202PKHD1c.8967T>A (p.Leu2989=)
c.8838T>A (p.Leu2946=)
c.8829T>A (p.Leu2943=)
c.8325T>A (p.Leu2775=)
c.8256T>A (p.Leu2752=)
c.3042T>A (p.Leu1014=)
c.8892T>A (p.Leu2964=)
c.8772T>A (p.Leu2924=)
c.8703T>A (p.Leu2901=)
c.7107T>A (p.Leu2369=)
n.9243T>A
6g.51748652_51748654delCA450614203PKHD1c.8965_8967del (p.Leu2989del)
c.8836_8838del (p.Leu2946del)
c.8827_8829del (p.Leu2943del)
c.8323_8325del (p.Leu2775del)
c.8254_8256del (p.Leu2752del)
c.3040_3042del (p.Leu1014del)
c.8890_8892del (p.Leu2964del)
c.8770_8772del (p.Leu2924del)
c.8701_8703del (p.Leu2901del)
c.7105_7107del (p.Leu2369del)
n.9241_9243del
 gnomAD v4
6g.51748650A>CCA364424446PKHD1c.8966T>G (p.Leu2989Arg)
c.8837T>G (p.Leu2946Arg)
c.8828T>G (p.Leu2943Arg)
c.8324T>G (p.Leu2775Arg)
c.8255T>G (p.Leu2752Arg)
c.3041T>G (p.Leu1014Arg)
c.8891T>G (p.Leu2964Arg)
c.8771T>G (p.Leu2924Arg)
c.8702T>G (p.Leu2901Arg)
c.7106T>G (p.Leu2369Arg)
n.9242T>G
6g.51748650A>GCA364424444PKHD1c.8966T>C (p.Leu2989Pro)
c.8837T>C (p.Leu2946Pro)
c.8828T>C (p.Leu2943Pro)
c.8324T>C (p.Leu2775Pro)
c.8255T>C (p.Leu2752Pro)
c.3041T>C (p.Leu1014Pro)
c.8891T>C (p.Leu2964Pro)
c.8771T>C (p.Leu2924Pro)
c.8702T>C (p.Leu2901Pro)
c.7106T>C (p.Leu2369Pro)
n.9242T>C
6g.51748650A>TCA364424441PKHD1c.8966T>A (p.Leu2989His)
c.8837T>A (p.Leu2946His)
c.8828T>A (p.Leu2943His)
c.8324T>A (p.Leu2775His)
c.8255T>A (p.Leu2752His)
c.3041T>A (p.Leu1014His)
c.8891T>A (p.Leu2964His)
c.8771T>A (p.Leu2924His)
c.8702T>A (p.Leu2901His)
c.7106T>A (p.Leu2369His)
n.9242T>A
6g.51748651G>ACA3851467PKHD1c.8965C>T (p.Leu2989Phe)
c.8836C>T (p.Leu2946Phe)
c.8827C>T (p.Leu2943Phe)
c.8323C>T (p.Leu2775Phe)
c.8254C>T (p.Leu2752Phe)
c.3040C>T (p.Leu1014Phe)
c.8890C>T (p.Leu2964Phe)
c.8770C>T (p.Leu2924Phe)
c.8701C>T (p.Leu2901Phe)
c.7105C>T (p.Leu2369Phe)
n.9241C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748651G>CCA364424458PKHD1c.8965C>G (p.Leu2989Val)
c.8836C>G (p.Leu2946Val)
c.8827C>G (p.Leu2943Val)
c.8323C>G (p.Leu2775Val)
c.8254C>G (p.Leu2752Val)
c.3040C>G (p.Leu1014Val)
c.8890C>G (p.Leu2964Val)
c.8770C>G (p.Leu2924Val)
c.8701C>G (p.Leu2901Val)
c.7105C>G (p.Leu2369Val)
n.9241C>G
6g.51748651G=CA1628503905PKHD1c.8965C= (p.Leu2989=)
c.8836C= (p.Leu2946=)
c.8827C= (p.Leu2943=)
c.8323C= (p.Leu2775=)
c.8254C= (p.Leu2752=)
c.3040C= (p.Leu1014=)
c.8890C= (p.Leu2964=)
c.8770C= (p.Leu2924=)
c.8701C= (p.Leu2901=)
c.7105C= (p.Leu2369=)
n.9241C=
6g.51748651G>TCA364424452PKHD1c.8965C>A (p.Leu2989Ile)
c.8836C>A (p.Leu2946Ile)
c.8827C>A (p.Leu2943Ile)
c.8323C>A (p.Leu2775Ile)
c.8254C>A (p.Leu2752Ile)
c.3040C>A (p.Leu1014Ile)
c.8890C>A (p.Leu2964Ile)
c.8770C>A (p.Leu2924Ile)
c.8701C>A (p.Leu2901Ile)
c.7105C>A (p.Leu2369Ile)
n.9241C>A
6g.51748652A>CCA450614209PKHD1c.8964T>G (p.Leu2988=)
c.8835T>G (p.Leu2945=)
c.8826T>G (p.Leu2942=)
c.8322T>G (p.Leu2774=)
c.8253T>G (p.Leu2751=)
c.3039T>G (p.Leu1013=)
c.8889T>G (p.Leu2963=)
c.8769T>G (p.Leu2923=)
c.8700T>G (p.Leu2900=)
c.7104T>G (p.Leu2368=)
n.9240T>G
 ClinVar dbSNP gnomAD v4
6g.51748652A>GCA450614208PKHD1c.8964T>C (p.Leu2988=)
c.8835T>C (p.Leu2945=)
c.8826T>C (p.Leu2942=)
c.8322T>C (p.Leu2774=)
c.8253T>C (p.Leu2751=)
c.3039T>C (p.Leu1013=)
c.8889T>C (p.Leu2963=)
c.8769T>C (p.Leu2923=)
c.8700T>C (p.Leu2900=)
c.7104T>C (p.Leu2368=)
n.9240T>C
6g.51748652A>TCA450614206PKHD1c.8964T>A (p.Leu2988=)
c.8835T>A (p.Leu2945=)
c.8826T>A (p.Leu2942=)
c.8322T>A (p.Leu2774=)
c.8253T>A (p.Leu2751=)
c.3039T>A (p.Leu1013=)
c.8889T>A (p.Leu2963=)
c.8769T>A (p.Leu2923=)
c.8700T>A (p.Leu2900=)
c.7104T>A (p.Leu2368=)
n.9240T>A
6g.51748653A>CCA364424459PKHD1c.8963T>G (p.Leu2988Arg)
c.8834T>G (p.Leu2945Arg)
c.8825T>G (p.Leu2942Arg)
c.8321T>G (p.Leu2774Arg)
c.8252T>G (p.Leu2751Arg)
c.3038T>G (p.Leu1013Arg)
c.8888T>G (p.Leu2963Arg)
c.8768T>G (p.Leu2923Arg)
c.8699T>G (p.Leu2900Arg)
c.7103T>G (p.Leu2368Arg)
n.9239T>G
6g.51748653A>GCA364424460PKHD1c.8963T>C (p.Leu2988Pro)
c.8834T>C (p.Leu2945Pro)
c.8825T>C (p.Leu2942Pro)
c.8321T>C (p.Leu2774Pro)
c.8252T>C (p.Leu2751Pro)
c.3038T>C (p.Leu1013Pro)
c.8888T>C (p.Leu2963Pro)
c.8768T>C (p.Leu2923Pro)
c.8699T>C (p.Leu2900Pro)
c.7103T>C (p.Leu2368Pro)
n.9239T>C
6g.51748653A>TCA364424463PKHD1c.8963T>A (p.Leu2988His)
c.8834T>A (p.Leu2945His)
c.8825T>A (p.Leu2942His)
c.8321T>A (p.Leu2774His)
c.8252T>A (p.Leu2751His)
c.3038T>A (p.Leu1013His)
c.8888T>A (p.Leu2963His)
c.8768T>A (p.Leu2923His)
c.8699T>A (p.Leu2900His)
c.7103T>A (p.Leu2368His)
n.9239T>A
 ClinVar
6g.51748654G>ACA364424464PKHD1c.8962C>T (p.Leu2988Phe)
c.8833C>T (p.Leu2945Phe)
c.8824C>T (p.Leu2942Phe)
c.8320C>T (p.Leu2774Phe)
c.8251C>T (p.Leu2751Phe)
c.3037C>T (p.Leu1013Phe)
c.8887C>T (p.Leu2963Phe)
c.8767C>T (p.Leu2923Phe)
c.8698C>T (p.Leu2900Phe)
c.7102C>T (p.Leu2368Phe)
n.9238C>T
6g.51748654G>CCA364424465PKHD1c.8962C>G (p.Leu2988Val)
c.8833C>G (p.Leu2945Val)
c.8824C>G (p.Leu2942Val)
c.8320C>G (p.Leu2774Val)
c.8251C>G (p.Leu2751Val)
c.3037C>G (p.Leu1013Val)
c.8887C>G (p.Leu2963Val)
c.8767C>G (p.Leu2923Val)
c.8698C>G (p.Leu2900Val)
c.7102C>G (p.Leu2368Val)
n.9238C>G
6g.51748654G>TCA364424466PKHD1c.8962C>A (p.Leu2988Ile)
c.8833C>A (p.Leu2945Ile)
c.8824C>A (p.Leu2942Ile)
c.8320C>A (p.Leu2774Ile)
c.8251C>A (p.Leu2751Ile)
c.3037C>A (p.Leu1013Ile)
c.8887C>A (p.Leu2963Ile)
c.8767C>A (p.Leu2923Ile)
c.8698C>A (p.Leu2900Ile)
c.7102C>A (p.Leu2368Ile)
n.9238C>A
6g.51748655T>ACA364424470PKHD1c.8961A>T (p.Gln2987His)
c.8832A>T (p.Gln2944His)
c.8823A>T (p.Gln2941His)
c.8319A>T (p.Gln2773His)
c.8250A>T (p.Gln2750His)
c.3036A>T (p.Gln1012His)
c.8886A>T (p.Gln2962His)
c.8766A>T (p.Gln2922His)
c.8697A>T (p.Gln2899His)
c.7101A>T (p.Gln2367His)
n.9237A>T
6g.51748655T>CCA3851468PKHD1c.8961A>G (p.Gln2987=)
c.8832A>G (p.Gln2944=)
c.8823A>G (p.Gln2941=)
c.8319A>G (p.Gln2773=)
c.8250A>G (p.Gln2750=)
c.3036A>G (p.Gln1012=)
c.8886A>G (p.Gln2962=)
c.8766A>G (p.Gln2922=)
c.8697A>G (p.Gln2899=)
c.7101A>G (p.Gln2367=)
n.9237A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748655T>GCA364424474PKHD1c.8961A>C (p.Gln2987His)
c.8832A>C (p.Gln2944His)
c.8823A>C (p.Gln2941His)
c.8319A>C (p.Gln2773His)
c.8250A>C (p.Gln2750His)
c.3036A>C (p.Gln1012His)
c.8886A>C (p.Gln2962His)
c.8766A>C (p.Gln2922His)
c.8697A>C (p.Gln2899His)
c.7101A>C (p.Gln2367His)
n.9237A>C
6g.51748655T=CA1628503909PKHD1c.8961A= (p.Gln2987=)
c.8832A= (p.Gln2944=)
c.8823A= (p.Gln2941=)
c.8319A= (p.Gln2773=)
c.8250A= (p.Gln2750=)
c.3036A= (p.Gln1012=)
c.8886A= (p.Gln2962=)
c.8766A= (p.Gln2922=)
c.8697A= (p.Gln2899=)
c.7101A= (p.Gln2367=)
n.9237A=
6g.51748656T>ACA364424475PKHD1c.8960A>T (p.Gln2987Leu)
c.8831A>T (p.Gln2944Leu)
c.8822A>T (p.Gln2941Leu)
c.8318A>T (p.Gln2773Leu)
c.8249A>T (p.Gln2750Leu)
c.3035A>T (p.Gln1012Leu)
c.8885A>T (p.Gln2962Leu)
c.8765A>T (p.Gln2922Leu)
c.8696A>T (p.Gln2899Leu)
c.7100A>T (p.Gln2367Leu)
n.9236A>T
6g.51748656T>CCA364424476PKHD1c.8960A>G (p.Gln2987Arg)
c.8831A>G (p.Gln2944Arg)
c.8822A>G (p.Gln2941Arg)
c.8318A>G (p.Gln2773Arg)
c.8249A>G (p.Gln2750Arg)
c.3035A>G (p.Gln1012Arg)
c.8885A>G (p.Gln2962Arg)
c.8765A>G (p.Gln2922Arg)
c.8696A>G (p.Gln2899Arg)
c.7100A>G (p.Gln2367Arg)
n.9236A>G
6g.51748656T>GCA364424477PKHD1c.8960A>C (p.Gln2987Pro)
c.8831A>C (p.Gln2944Pro)
c.8822A>C (p.Gln2941Pro)
c.8318A>C (p.Gln2773Pro)
c.8249A>C (p.Gln2750Pro)
c.3035A>C (p.Gln1012Pro)
c.8885A>C (p.Gln2962Pro)
c.8765A>C (p.Gln2922Pro)
c.8696A>C (p.Gln2899Pro)
c.7100A>C (p.Gln2367Pro)
n.9236A>C
6g.51748657G>ACA364424480PKHD1c.8959C>T (p.Gln2987Ter)
c.8830C>T (p.Gln2944Ter)
c.8821C>T (p.Gln2941Ter)
c.8317C>T (p.Gln2773Ter)
c.8248C>T (p.Gln2750Ter)
c.3034C>T (p.Gln1012Ter)
c.8884C>T (p.Gln2962Ter)
c.8764C>T (p.Gln2922Ter)
c.8695C>T (p.Gln2899Ter)
c.7099C>T (p.Gln2367Ter)
n.9235C>T
 COSMIC COSMIC
6g.51748657G>CCA364424490PKHD1c.8959C>G (p.Gln2987Glu)
c.8830C>G (p.Gln2944Glu)
c.8821C>G (p.Gln2941Glu)
c.8317C>G (p.Gln2773Glu)
c.8248C>G (p.Gln2750Glu)
c.3034C>G (p.Gln1012Glu)
c.8884C>G (p.Gln2962Glu)
c.8764C>G (p.Gln2922Glu)
c.8695C>G (p.Gln2899Glu)
c.7099C>G (p.Gln2367Glu)
n.9235C>G
6g.51748657G>TCA364424482PKHD1c.8959C>A (p.Gln2987Lys)
c.8830C>A (p.Gln2944Lys)
c.8821C>A (p.Gln2941Lys)
c.8317C>A (p.Gln2773Lys)
c.8248C>A (p.Gln2750Lys)
c.3034C>A (p.Gln1012Lys)
c.8884C>A (p.Gln2962Lys)
c.8764C>A (p.Gln2922Lys)
c.8695C>A (p.Gln2899Lys)
c.7099C>A (p.Gln2367Lys)
n.9235C>A
6g.51748657_51748658delinsGACA1628503921PKHD1c.8958_8959delinsTC (p.Leu2986=)
c.8829_8830delinsTC (p.Leu2943=)
c.8820_8821delinsTC (p.Leu2940=)
c.8316_8317delinsTC (p.Leu2772=)
c.8247_8248delinsTC (p.Leu2749=)
c.3033_3034delinsTC (p.Leu1011=)
c.8883_8884delinsTC (p.Leu2961=)
c.8763_8764delinsTC (p.Leu2921=)
c.8694_8695delinsTC (p.Leu2898=)
c.7098_7099delinsTC (p.Leu2366=)
n.9234_9235delinsTC
6g.51748658A>CCA450614215PKHD1c.8958T>G (p.Leu2986=)
c.8829T>G (p.Leu2943=)
c.8820T>G (p.Leu2940=)
c.8316T>G (p.Leu2772=)
c.8247T>G (p.Leu2749=)
c.3033T>G (p.Leu1011=)
c.8883T>G (p.Leu2961=)
c.8763T>G (p.Leu2921=)
c.8694T>G (p.Leu2898=)
c.7098T>G (p.Leu2366=)
n.9234T>G
6g.51748658A>GCA450614216PKHD1c.8958T>C (p.Leu2986=)
c.8829T>C (p.Leu2943=)
c.8820T>C (p.Leu2940=)
c.8316T>C (p.Leu2772=)
c.8247T>C (p.Leu2749=)
c.3033T>C (p.Leu1011=)
c.8883T>C (p.Leu2961=)
c.8763T>C (p.Leu2921=)
c.8694T>C (p.Leu2898=)
c.7098T>C (p.Leu2366=)
n.9234T>C
6g.51748658A>TCA450614217PKHD1c.8958T>A (p.Leu2986=)
c.8829T>A (p.Leu2943=)
c.8820T>A (p.Leu2940=)
c.8316T>A (p.Leu2772=)
c.8247T>A (p.Leu2749=)
c.3033T>A (p.Leu1011=)
c.8883T>A (p.Leu2961=)
c.8763T>A (p.Leu2921=)
c.8694T>A (p.Leu2898=)
c.7098T>A (p.Leu2366=)
n.9234T>A
6g.51748659delCA16041034PKHD1c.8958del (p.Gln2987AsnfsTer?)
c.8829del (p.Gln2944AsnfsTer?)
c.8820del (p.Gln2941AsnfsTer?)
c.8316del (p.Gln2773AsnfsTer?)
c.8247del (p.Gln2750AsnfsTer?)
c.3033del (p.Gln1012AsnfsTer?)
c.8883del (p.Gln2962AsnfsTer?)
c.8763del (p.Gln2922AsnfsTer?)
c.8694del (p.Gln2899AsnfsTer?)
c.7098del (p.Gln2367AsnfsTer?)
n.9234del
 ClinVar dbSNP
6g.51748659A>CCA364424498PKHD1c.8957T>G (p.Leu2986Arg)
c.8828T>G (p.Leu2943Arg)
c.8819T>G (p.Leu2940Arg)
c.8315T>G (p.Leu2772Arg)
c.8246T>G (p.Leu2749Arg)
c.3032T>G (p.Leu1011Arg)
c.8882T>G (p.Leu2961Arg)
c.8762T>G (p.Leu2921Arg)
c.8693T>G (p.Leu2898Arg)
c.7097T>G (p.Leu2366Arg)
n.9233T>G
6g.51748659A>GCA364424505PKHD1c.8957T>C (p.Leu2986Pro)
c.8828T>C (p.Leu2943Pro)
c.8819T>C (p.Leu2940Pro)
c.8315T>C (p.Leu2772Pro)
c.8246T>C (p.Leu2749Pro)
c.3032T>C (p.Leu1011Pro)
c.8882T>C (p.Leu2961Pro)
c.8762T>C (p.Leu2921Pro)
c.8693T>C (p.Leu2898Pro)
c.7097T>C (p.Leu2366Pro)
n.9233T>C
6g.51748659A>TCA364424513PKHD1c.8957T>A (p.Leu2986His)
c.8828T>A (p.Leu2943His)
c.8819T>A (p.Leu2940His)
c.8315T>A (p.Leu2772His)
c.8246T>A (p.Leu2749His)
c.3032T>A (p.Leu1011His)
c.8882T>A (p.Leu2961His)
c.8762T>A (p.Leu2921His)
c.8693T>A (p.Leu2898His)
c.7097T>A (p.Leu2366His)
n.9233T>A
6g.51748660G>ACA364424516PKHD1c.8956C>T (p.Leu2986Phe)
c.8827C>T (p.Leu2943Phe)
c.8818C>T (p.Leu2940Phe)
c.8314C>T (p.Leu2772Phe)
c.8245C>T (p.Leu2749Phe)
c.3031C>T (p.Leu1011Phe)
c.8881C>T (p.Leu2961Phe)
c.8761C>T (p.Leu2921Phe)
c.8692C>T (p.Leu2898Phe)
c.7096C>T (p.Leu2366Phe)
n.9232C>T
6g.51748660G>CCA364424521PKHD1c.8956C>G (p.Leu2986Val)
c.8827C>G (p.Leu2943Val)
c.8818C>G (p.Leu2940Val)
c.8314C>G (p.Leu2772Val)
c.8245C>G (p.Leu2749Val)
c.3031C>G (p.Leu1011Val)
c.8881C>G (p.Leu2961Val)
c.8761C>G (p.Leu2921Val)
c.8692C>G (p.Leu2898Val)
c.7096C>G (p.Leu2366Val)
n.9232C>G
6g.51748660G>TCA364424522PKHD1c.8956C>A (p.Leu2986Ile)
c.8827C>A (p.Leu2943Ile)
c.8818C>A (p.Leu2940Ile)
c.8314C>A (p.Leu2772Ile)
c.8245C>A (p.Leu2749Ile)
c.3031C>A (p.Leu1011Ile)
c.8881C>A (p.Leu2961Ile)
c.8761C>A (p.Leu2921Ile)
c.8692C>A (p.Leu2898Ile)
c.7096C>A (p.Leu2366Ile)
n.9232C>A
6g.51748661delCA2597157280PKHD1c.8956del (p.Leu2986PhefsTer?)
c.8827del (p.Leu2943PhefsTer?)
c.8818del (p.Leu2940PhefsTer?)
c.8314del (p.Leu2772PhefsTer?)
c.8245del (p.Leu2749PhefsTer?)
c.3031del (p.Leu1011PhefsTer?)
c.8881del (p.Leu2961PhefsTer?)
c.8761del (p.Leu2921PhefsTer?)
c.8692del (p.Leu2898PhefsTer?)
c.7096del (p.Leu2366PhefsTer?)
n.9232del
 dbSNP gnomAD v3 gnomAD v4
6g.51748661G>ACA450614223PKHD1c.8955C>T (p.Val2985=)
c.8826C>T (p.Val2942=)
c.8817C>T (p.Val2939=)
c.8313C>T (p.Val2771=)
c.8244C>T (p.Val2748=)
c.3030C>T (p.Val1010=)
c.8880C>T (p.Val2960=)
c.8760C>T (p.Val2920=)
c.8691C>T (p.Val2897=)
c.7095C>T (p.Val2365=)
n.9231C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51748661G>CCA450614224PKHD1c.8955C>G (p.Val2985=)
c.8826C>G (p.Val2942=)
c.8817C>G (p.Val2939=)
c.8313C>G (p.Val2771=)
c.8244C>G (p.Val2748=)
c.3030C>G (p.Val1010=)
c.8880C>G (p.Val2960=)
c.8760C>G (p.Val2920=)
c.8691C>G (p.Val2897=)
c.7095C>G (p.Val2365=)
n.9231C>G
6g.51748661G=CA1628503932PKHD1c.8955C= (p.Val2985=)
c.8826C= (p.Val2942=)
c.8817C= (p.Val2939=)
c.8313C= (p.Val2771=)
c.8244C= (p.Val2748=)
c.3030C= (p.Val1010=)
c.8880C= (p.Val2960=)
c.8760C= (p.Val2920=)
c.8691C= (p.Val2897=)
c.7095C= (p.Val2365=)
n.9231C=
6g.51748661G>TCA450614226PKHD1c.8955C>A (p.Val2985=)
c.8826C>A (p.Val2942=)
c.8817C>A (p.Val2939=)
c.8313C>A (p.Val2771=)
c.8244C>A (p.Val2748=)
c.3030C>A (p.Val1010=)
c.8880C>A (p.Val2960=)
c.8760C>A (p.Val2920=)
c.8691C>A (p.Val2897=)
c.7095C>A (p.Val2365=)
n.9231C>A
 ClinVar dbSNP
6g.51748662A>CCA364424525PKHD1c.8954T>G (p.Val2985Gly)
c.8825T>G (p.Val2942Gly)
c.8816T>G (p.Val2939Gly)
c.8312T>G (p.Val2771Gly)
c.8243T>G (p.Val2748Gly)
c.3029T>G (p.Val1010Gly)
c.8879T>G (p.Val2960Gly)
c.8759T>G (p.Val2920Gly)
c.8690T>G (p.Val2897Gly)
c.7094T>G (p.Val2365Gly)
n.9230T>G
6g.51748662A>GCA364424528PKHD1c.8954T>C (p.Val2985Ala)
c.8825T>C (p.Val2942Ala)
c.8816T>C (p.Val2939Ala)
c.8312T>C (p.Val2771Ala)
c.8243T>C (p.Val2748Ala)
c.3029T>C (p.Val1010Ala)
c.8879T>C (p.Val2960Ala)
c.8759T>C (p.Val2920Ala)
c.8690T>C (p.Val2897Ala)
c.7094T>C (p.Val2365Ala)
n.9230T>C
6g.51748662A>TCA364424530PKHD1c.8954T>A (p.Val2985Asp)
c.8825T>A (p.Val2942Asp)
c.8816T>A (p.Val2939Asp)
c.8312T>A (p.Val2771Asp)
c.8243T>A (p.Val2748Asp)
c.3029T>A (p.Val1010Asp)
c.8879T>A (p.Val2960Asp)
c.8759T>A (p.Val2920Asp)
c.8690T>A (p.Val2897Asp)
c.7094T>A (p.Val2365Asp)
n.9230T>A
6g.51748663C>ACA364424534PKHD1c.8953G>T (p.Val2985Phe)
c.8824G>T (p.Val2942Phe)
c.8815G>T (p.Val2939Phe)
c.8311G>T (p.Val2771Phe)
c.8242G>T (p.Val2748Phe)
c.3028G>T (p.Val1010Phe)
c.8878G>T (p.Val2960Phe)
c.8758G>T (p.Val2920Phe)
c.8689G>T (p.Val2897Phe)
c.7093G>T (p.Val2365Phe)
n.9229G>T
 gnomAD v4
6g.51748663C>GCA364424536PKHD1c.8953G>C (p.Val2985Leu)
c.8824G>C (p.Val2942Leu)
c.8815G>C (p.Val2939Leu)
c.8311G>C (p.Val2771Leu)
c.8242G>C (p.Val2748Leu)
c.3028G>C (p.Val1010Leu)
c.8878G>C (p.Val2960Leu)
c.8758G>C (p.Val2920Leu)
c.8689G>C (p.Val2897Leu)
c.7093G>C (p.Val2365Leu)
n.9229G>C
6g.51748663C>TCA364424533PKHD1c.8953G>A (p.Val2985Ile)
c.8824G>A (p.Val2942Ile)
c.8815G>A (p.Val2939Ile)
c.8311G>A (p.Val2771Ile)
c.8242G>A (p.Val2748Ile)
c.3028G>A (p.Val1010Ile)
c.8878G>A (p.Val2960Ile)
c.8758G>A (p.Val2920Ile)
c.8689G>A (p.Val2897Ile)
c.7093G>A (p.Val2365Ile)
n.9229G>A
6g.51748664A=CA1628503936PKHD1c.8952T= (p.Gly2984=)
c.8823T= (p.Gly2941=)
c.8814T= (p.Gly2938=)
c.8310T= (p.Gly2770=)
c.8241T= (p.Gly2747=)
c.3027T= (p.Gly1009=)
c.8877T= (p.Gly2959=)
c.8757T= (p.Gly2919=)
c.8688T= (p.Gly2896=)
c.7092T= (p.Gly2364=)
n.9228T=
6g.51748664A>CCA450614234PKHD1c.8952T>G (p.Gly2984=)
c.8823T>G (p.Gly2941=)
c.8814T>G (p.Gly2938=)
c.8310T>G (p.Gly2770=)
c.8241T>G (p.Gly2747=)
c.3027T>G (p.Gly1009=)
c.8877T>G (p.Gly2959=)
c.8757T>G (p.Gly2919=)
c.8688T>G (p.Gly2896=)
c.7092T>G (p.Gly2364=)
n.9228T>G
6g.51748664A>GCA450614238PKHD1c.8952T>C (p.Gly2984=)
c.8823T>C (p.Gly2941=)
c.8814T>C (p.Gly2938=)
c.8310T>C (p.Gly2770=)
c.8241T>C (p.Gly2747=)
c.3027T>C (p.Gly1009=)
c.8877T>C (p.Gly2959=)
c.8757T>C (p.Gly2919=)
c.8688T>C (p.Gly2896=)
c.7092T>C (p.Gly2364=)
n.9228T>C
 dbSNP
6g.51748664A>TCA450614236PKHD1c.8952T>A (p.Gly2984=)
c.8823T>A (p.Gly2941=)
c.8814T>A (p.Gly2938=)
c.8310T>A (p.Gly2770=)
c.8241T>A (p.Gly2747=)
c.3027T>A (p.Gly1009=)
c.8877T>A (p.Gly2959=)
c.8757T>A (p.Gly2919=)
c.8688T>A (p.Gly2896=)
c.7092T>A (p.Gly2364=)
n.9228T>A
 gnomAD v4
6g.51748665C>ACA364424540PKHD1c.8951G>T (p.Gly2984Val)
c.8822G>T (p.Gly2941Val)
c.8813G>T (p.Gly2938Val)
c.8309G>T (p.Gly2770Val)
c.8240G>T (p.Gly2747Val)
c.3026G>T (p.Gly1009Val)
c.8876G>T (p.Gly2959Val)
c.8756G>T (p.Gly2919Val)
c.8687G>T (p.Gly2896Val)
c.7091G>T (p.Gly2364Val)
n.9227G>T
6g.51748665C=CA1628503940PKHD1c.8951G= (p.Gly2984=)
c.8822G= (p.Gly2941=)
c.8813G= (p.Gly2938=)
c.8309G= (p.Gly2770=)
c.8240G= (p.Gly2747=)
c.3026G= (p.Gly1009=)
c.8876G= (p.Gly2959=)
c.8756G= (p.Gly2919=)
c.8687G= (p.Gly2896=)
c.7091G= (p.Gly2364=)
n.9227G=
6g.51748665C>GCA10654916PKHD1c.8951G>C (p.Gly2984Ala)
c.8822G>C (p.Gly2941Ala)
c.8813G>C (p.Gly2938Ala)
c.8309G>C (p.Gly2770Ala)
c.8240G>C (p.Gly2747Ala)
c.3026G>C (p.Gly1009Ala)
c.8876G>C (p.Gly2959Ala)
c.8756G>C (p.Gly2919Ala)
c.8687G>C (p.Gly2896Ala)
c.7091G>C (p.Gly2364Ala)
n.9227G>C
 ClinVar dbSNP
6g.51748665C>TCA364424546PKHD1c.8951G>A (p.Gly2984Asp)
c.8822G>A (p.Gly2941Asp)
c.8813G>A (p.Gly2938Asp)
c.8309G>A (p.Gly2770Asp)
c.8240G>A (p.Gly2747Asp)
c.3026G>A (p.Gly1009Asp)
c.8876G>A (p.Gly2959Asp)
c.8756G>A (p.Gly2919Asp)
c.8687G>A (p.Gly2896Asp)
c.7091G>A (p.Gly2364Asp)
n.9227G>A
 dbSNP gnomAD v3 gnomAD v4
6g.51748666C>ACA364424551PKHD1c.8951-1G>T (n.8951-1G>T)
c.8822-1G>T (n.8822-1G>T)
c.8813-1G>T (n.8813-1G>T)
c.8309-1G>T (n.8309-1G>T)
c.8240-1G>T (n.8240-1G>T)
c.3026-1G>T (n.3026-1G>T)
c.8876-1G>T (n.8876-1G>T)
c.8756-1G>T (n.8756-1G>T)
c.8687-1G>T (n.8687-1G>T)
c.7091-1G>T (n.7091-1G>T)
n.9227-1G>T
6g.51748666C>GCA364424552PKHD1c.8951-1G>C (n.8951-1G>C)
c.8822-1G>C (n.8822-1G>C)
c.8813-1G>C (n.8813-1G>C)
c.8309-1G>C (n.8309-1G>C)
c.8240-1G>C (n.8240-1G>C)
c.3026-1G>C (n.3026-1G>C)
c.8876-1G>C (n.8876-1G>C)
c.8756-1G>C (n.8756-1G>C)
c.8687-1G>C (n.8687-1G>C)
c.7091-1G>C (n.7091-1G>C)
n.9227-1G>C
6g.51748666C>TCA364424554PKHD1c.8951-1G>A (n.8951-1G>A)
c.8822-1G>A (n.8822-1G>A)
c.8813-1G>A (n.8813-1G>A)
c.8309-1G>A (n.8309-1G>A)
c.8240-1G>A (n.8240-1G>A)
c.3026-1G>A (n.3026-1G>A)
c.8876-1G>A (n.8876-1G>A)
c.8756-1G>A (n.8756-1G>A)
c.8687-1G>A (n.8687-1G>A)
c.7091-1G>A (n.7091-1G>A)
n.9227-1G>A
 gnomAD v4
6g.51748667T>ACA364424559PKHD1c.8951-2A>T (n.8951-2A>T)
c.8822-2A>T (n.8822-2A>T)
c.8813-2A>T (n.8813-2A>T)
c.8309-2A>T (n.8309-2A>T)
c.8240-2A>T (n.8240-2A>T)
c.3026-2A>T (n.3026-2A>T)
c.8876-2A>T (n.8876-2A>T)
c.8756-2A>T (n.8756-2A>T)
c.8687-2A>T (n.8687-2A>T)
c.7091-2A>T (n.7091-2A>T)
n.9227-2A>T
6g.51748667T>CCA364424563PKHD1c.8951-2A>G (n.8951-2A>G)
c.8822-2A>G (n.8822-2A>G)
c.8813-2A>G (n.8813-2A>G)
c.8309-2A>G (n.8309-2A>G)
c.8240-2A>G (n.8240-2A>G)
c.3026-2A>G (n.3026-2A>G)
c.8876-2A>G (n.8876-2A>G)
c.8756-2A>G (n.8756-2A>G)
c.8687-2A>G (n.8687-2A>G)
c.7091-2A>G (n.7091-2A>G)
n.9227-2A>G
6g.51748667T>GCA364424564PKHD1c.8951-2A>C (n.8951-2A>C)
c.8822-2A>C (n.8822-2A>C)
c.8813-2A>C (n.8813-2A>C)
c.8309-2A>C (n.8309-2A>C)
c.8240-2A>C (n.8240-2A>C)
c.3026-2A>C (n.3026-2A>C)
c.8876-2A>C (n.8876-2A>C)
c.8756-2A>C (n.8756-2A>C)
c.8687-2A>C (n.8687-2A>C)
c.7091-2A>C (n.7091-2A>C)
n.9227-2A>C
6g.51748668A>GCA2679078644PKHD1c.8951-3T>C (n.8951-3T>C)
c.8822-3T>C (n.8822-3T>C)
c.8813-3T>C (n.8813-3T>C)
c.8309-3T>C (n.8309-3T>C)
c.8240-3T>C (n.8240-3T>C)
c.3026-3T>C (n.3026-3T>C)
c.8876-3T>C (n.8876-3T>C)
c.8756-3T>C (n.8756-3T>C)
c.8687-3T>C (n.8687-3T>C)
c.7091-3T>C (n.7091-3T>C)
n.9227-3T>C
 gnomAD v4
6g.51748669T>ACA2573140943PKHD1c.8951-4A>T (n.8951-4A>T)
c.8822-4A>T (n.8822-4A>T)
c.8813-4A>T (n.8813-4A>T)
c.8309-4A>T (n.8309-4A>T)
c.8240-4A>T (n.8240-4A>T)
c.3026-4A>T (n.3026-4A>T)
c.8876-4A>T (n.8876-4A>T)
c.8756-4A>T (n.8756-4A>T)
c.8687-4A>T (n.8687-4A>T)
c.7091-4A>T (n.7091-4A>T)
n.9227-4A>T
 ClinVar dbSNP gnomAD v4
6g.51748669T>CCA2580075502PKHD1c.8951-4A>G (n.8951-4A>G)
c.8822-4A>G (n.8822-4A>G)
c.8813-4A>G (n.8813-4A>G)
c.8309-4A>G (n.8309-4A>G)
c.8240-4A>G (n.8240-4A>G)
c.3026-4A>G (n.3026-4A>G)
c.8876-4A>G (n.8876-4A>G)
c.8756-4A>G (n.8756-4A>G)
c.8687-4A>G (n.8687-4A>G)
c.7091-4A>G (n.7091-4A>G)
n.9227-4A>G
 ClinVar dbSNP gnomAD v4
6g.51748672delCA2499218345PKHD1c.8951-5del (n.8951-5del)
c.8822-5del (n.8822-5del)
c.8813-5del (n.8813-5del)
c.8309-5del (n.8309-5del)
c.8240-5del (n.8240-5del)
c.3026-5del (n.3026-5del)
c.8876-5del (n.8876-5del)
c.8756-5del (n.8756-5del)
c.8687-5del (n.8687-5del)
c.7091-5del (n.7091-5del)
n.9227-5del
 ClinVar dbSNP gnomAD v4
6g.51748671A>CCA2679078645PKHD1c.8951-6T>G (n.8951-6T>G)
c.8822-6T>G (n.8822-6T>G)
c.8813-6T>G (n.8813-6T>G)
c.8309-6T>G (n.8309-6T>G)
c.8240-6T>G (n.8240-6T>G)
c.3026-6T>G (n.3026-6T>G)
c.8876-6T>G (n.8876-6T>G)
c.8756-6T>G (n.8756-6T>G)
c.8687-6T>G (n.8687-6T>G)
c.7091-6T>G (n.7091-6T>G)
n.9227-6T>G
 gnomAD v4
6g.51748672A=CA1628503945PKHD1c.8951-7T= (n.8951-7T=)
c.8822-7T= (n.8822-7T=)
c.8813-7T= (n.8813-7T=)
c.8309-7T= (n.8309-7T=)
c.8240-7T= (n.8240-7T=)
c.3026-7T= (n.3026-7T=)
c.8876-7T= (n.8876-7T=)
c.8756-7T= (n.8756-7T=)
c.8687-7T= (n.8687-7T=)
c.7091-7T= (n.7091-7T=)
n.9227-7T=
6g.51748672A>CCA3851469PKHD1c.8951-7T>G (n.8951-7T>G)
c.8822-7T>G (n.8822-7T>G)
c.8813-7T>G (n.8813-7T>G)
c.8309-7T>G (n.8309-7T>G)
c.8240-7T>G (n.8240-7T>G)
c.3026-7T>G (n.3026-7T>G)
c.8876-7T>G (n.8876-7T>G)
c.8756-7T>G (n.8756-7T>G)
c.8687-7T>G (n.8687-7T>G)
c.7091-7T>G (n.7091-7T>G)
n.9227-7T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748672A>GCA2501100138PKHD1c.8951-7T>C (n.8951-7T>C)
c.8822-7T>C (n.8822-7T>C)
c.8813-7T>C (n.8813-7T>C)
c.8309-7T>C (n.8309-7T>C)
c.8240-7T>C (n.8240-7T>C)
c.3026-7T>C (n.3026-7T>C)
c.8876-7T>C (n.8876-7T>C)
c.8756-7T>C (n.8756-7T>C)
c.8687-7T>C (n.8687-7T>C)
c.7091-7T>C (n.7091-7T>C)
n.9227-7T>C
6g.51748673C>TCA2679078646PKHD1c.8951-8G>A (n.8951-8G>A)
c.8822-8G>A (n.8822-8G>A)
c.8813-8G>A (n.8813-8G>A)
c.8309-8G>A (n.8309-8G>A)
c.8240-8G>A (n.8240-8G>A)
c.3026-8G>A (n.3026-8G>A)
c.8876-8G>A (n.8876-8G>A)
c.8756-8G>A (n.8756-8G>A)
c.8687-8G>A (n.8687-8G>A)
c.7091-8G>A (n.7091-8G>A)
n.9227-8G>A
 gnomAD v4
6g.51748674A>CCA2499218346PKHD1c.8951-9T>G (n.8951-9T>G)
c.8822-9T>G (n.8822-9T>G)
c.8813-9T>G (n.8813-9T>G)
c.8309-9T>G (n.8309-9T>G)
c.8240-9T>G (n.8240-9T>G)
c.3026-9T>G (n.3026-9T>G)
c.8876-9T>G (n.8876-9T>G)
c.8756-9T>G (n.8756-9T>G)
c.8687-9T>G (n.8687-9T>G)
c.7091-9T>G (n.7091-9T>G)
n.9227-9T>G
 ClinVar dbSNP
6g.51748677T>ACA2697553464PKHD1c.8951-12A>T (n.8951-12A>T)
c.8822-12A>T (n.8822-12A>T)
c.8813-12A>T (n.8813-12A>T)
c.8309-12A>T (n.8309-12A>T)
c.8240-12A>T (n.8240-12A>T)
c.3026-12A>T (n.3026-12A>T)
c.8876-12A>T (n.8876-12A>T)
c.8756-12A>T (n.8756-12A>T)
c.8687-12A>T (n.8687-12A>T)
c.7091-12A>T (n.7091-12A>T)
n.9227-12A>T
 ClinVar
6g.51748677T>CCA138896847PKHD1c.8951-12A>G (n.8951-12A>G)
c.8822-12A>G (n.8822-12A>G)
c.8813-12A>G (n.8813-12A>G)
c.8309-12A>G (n.8309-12A>G)
c.8240-12A>G (n.8240-12A>G)
c.3026-12A>G (n.3026-12A>G)
c.8876-12A>G (n.8876-12A>G)
c.8756-12A>G (n.8756-12A>G)
c.8687-12A>G (n.8687-12A>G)
c.7091-12A>G (n.7091-12A>G)
n.9227-12A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748677T>GCA2679078647PKHD1c.8951-12A>C (n.8951-12A>C)
c.8822-12A>C (n.8822-12A>C)
c.8813-12A>C (n.8813-12A>C)
c.8309-12A>C (n.8309-12A>C)
c.8240-12A>C (n.8240-12A>C)
c.3026-12A>C (n.3026-12A>C)
c.8876-12A>C (n.8876-12A>C)
c.8756-12A>C (n.8756-12A>C)
c.8687-12A>C (n.8687-12A>C)
c.7091-12A>C (n.7091-12A>C)
n.9227-12A>C
 gnomAD v4
6g.51748677T=CA1628503949PKHD1c.8951-12A= (n.8951-12A=)
c.8822-12A= (n.8822-12A=)
c.8813-12A= (n.8813-12A=)
c.8309-12A= (n.8309-12A=)
c.8240-12A= (n.8240-12A=)
c.3026-12A= (n.3026-12A=)
c.8876-12A= (n.8876-12A=)
c.8756-12A= (n.8756-12A=)
c.8687-12A= (n.8687-12A=)
c.7091-12A= (n.7091-12A=)
n.9227-12A=
6g.51748678G>ACA3851470PKHD1c.8951-13C>T (n.8951-13C>T)
c.8822-13C>T (n.8822-13C>T)
c.8813-13C>T (n.8813-13C>T)
c.8309-13C>T (n.8309-13C>T)
c.8240-13C>T (n.8240-13C>T)
c.3026-13C>T (n.3026-13C>T)
c.8876-13C>T (n.8876-13C>T)
c.8756-13C>T (n.8756-13C>T)
c.8687-13C>T (n.8687-13C>T)
c.7091-13C>T (n.7091-13C>T)
n.9227-13C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748678G=CA1628503959PKHD1c.8951-13C= (n.8951-13C=)
c.8822-13C= (n.8822-13C=)
c.8813-13C= (n.8813-13C=)
c.8309-13C= (n.8309-13C=)
c.8240-13C= (n.8240-13C=)
c.3026-13C= (n.3026-13C=)
c.8876-13C= (n.8876-13C=)
c.8756-13C= (n.8756-13C=)
c.8687-13C= (n.8687-13C=)
c.7091-13C= (n.7091-13C=)
n.9227-13C=
6g.51748678G>TCA2679078648PKHD1c.8951-13C>A (n.8951-13C>A)
c.8822-13C>A (n.8822-13C>A)
c.8813-13C>A (n.8813-13C>A)
c.8309-13C>A (n.8309-13C>A)
c.8240-13C>A (n.8240-13C>A)
c.3026-13C>A (n.3026-13C>A)
c.8876-13C>A (n.8876-13C>A)
c.8756-13C>A (n.8756-13C>A)
c.8687-13C>A (n.8687-13C>A)
c.7091-13C>A (n.7091-13C>A)
n.9227-13C>A
 gnomAD v4
6g.51748679C>TCA2679078649PKHD1c.8951-14G>A (n.8951-14G>A)
c.8822-14G>A (n.8822-14G>A)
c.8813-14G>A (n.8813-14G>A)
c.8309-14G>A (n.8309-14G>A)
c.8240-14G>A (n.8240-14G>A)
c.3026-14G>A (n.3026-14G>A)
c.8876-14G>A (n.8876-14G>A)
c.8756-14G>A (n.8756-14G>A)
c.8687-14G>A (n.8687-14G>A)
c.7091-14G>A (n.7091-14G>A)
n.9227-14G>A
 gnomAD v4
6g.51748680A=CA1628503965PKHD1c.8951-15T= (n.8951-15T=)
c.8822-15T= (n.8822-15T=)
c.8813-15T= (n.8813-15T=)
c.8309-15T= (n.8309-15T=)
c.8240-15T= (n.8240-15T=)
c.3026-15T= (n.3026-15T=)
c.8876-15T= (n.8876-15T=)
c.8756-15T= (n.8756-15T=)
c.8687-15T= (n.8687-15T=)
c.7091-15T= (n.7091-15T=)
n.9227-15T=
6g.51748680A>CCA2679078650PKHD1c.8951-15T>G (n.8951-15T>G)
c.8822-15T>G (n.8822-15T>G)
c.8813-15T>G (n.8813-15T>G)
c.8309-15T>G (n.8309-15T>G)
c.8240-15T>G (n.8240-15T>G)
c.3026-15T>G (n.3026-15T>G)
c.8876-15T>G (n.8876-15T>G)
c.8756-15T>G (n.8756-15T>G)
c.8687-15T>G (n.8687-15T>G)
c.7091-15T>G (n.7091-15T>G)
n.9227-15T>G
 gnomAD v4
6g.51748680A>GCA1628503966PKHD1c.8951-15T>C (n.8951-15T>C)
c.8822-15T>C (n.8822-15T>C)
c.8813-15T>C (n.8813-15T>C)
c.8309-15T>C (n.8309-15T>C)
c.8240-15T>C (n.8240-15T>C)
c.3026-15T>C (n.3026-15T>C)
c.8876-15T>C (n.8876-15T>C)
c.8756-15T>C (n.8756-15T>C)
c.8687-15T>C (n.8687-15T>C)
c.7091-15T>C (n.7091-15T>C)
n.9227-15T>C
 dbSNP gnomAD v3 gnomAD v4
6g.51748681T>CCA1628503971PKHD1c.8951-16A>G (n.8951-16A>G)
c.8822-16A>G (n.8822-16A>G)
c.8813-16A>G (n.8813-16A>G)
c.8309-16A>G (n.8309-16A>G)
c.8240-16A>G (n.8240-16A>G)
c.3026-16A>G (n.3026-16A>G)
c.8876-16A>G (n.8876-16A>G)
c.8756-16A>G (n.8756-16A>G)
c.8687-16A>G (n.8687-16A>G)
c.7091-16A>G (n.7091-16A>G)
n.9227-16A>G
 dbSNP gnomAD v4
6g.51748681T>GCA2679078651PKHD1c.8951-16A>C (n.8951-16A>C)
c.8822-16A>C (n.8822-16A>C)
c.8813-16A>C (n.8813-16A>C)
c.8309-16A>C (n.8309-16A>C)
c.8240-16A>C (n.8240-16A>C)
c.3026-16A>C (n.3026-16A>C)
c.8876-16A>C (n.8876-16A>C)
c.8756-16A>C (n.8756-16A>C)
c.8687-16A>C (n.8687-16A>C)
c.7091-16A>C (n.7091-16A>C)
n.9227-16A>C
 gnomAD v4
6g.51748681T=CA1628503969PKHD1c.8951-16A= (n.8951-16A=)
c.8822-16A= (n.8822-16A=)
c.8813-16A= (n.8813-16A=)
c.8309-16A= (n.8309-16A=)
c.8240-16A= (n.8240-16A=)
c.3026-16A= (n.3026-16A=)
c.8876-16A= (n.8876-16A=)
c.8756-16A= (n.8756-16A=)
c.8687-16A= (n.8687-16A=)
c.7091-16A= (n.7091-16A=)
n.9227-16A=
6g.51748682G>ACA2679078652PKHD1c.8951-17C>T (n.8951-17C>T)
c.8822-17C>T (n.8822-17C>T)
c.8813-17C>T (n.8813-17C>T)
c.8309-17C>T (n.8309-17C>T)
c.8240-17C>T (n.8240-17C>T)
c.3026-17C>T (n.3026-17C>T)
c.8876-17C>T (n.8876-17C>T)
c.8756-17C>T (n.8756-17C>T)
c.8687-17C>T (n.8687-17C>T)
c.7091-17C>T (n.7091-17C>T)
n.9227-17C>T
 ClinVar gnomAD v4
6g.51748682G>CCA2679078653PKHD1c.8951-17C>G (n.8951-17C>G)
c.8822-17C>G (n.8822-17C>G)
c.8813-17C>G (n.8813-17C>G)
c.8309-17C>G (n.8309-17C>G)
c.8240-17C>G (n.8240-17C>G)
c.3026-17C>G (n.3026-17C>G)
c.8876-17C>G (n.8876-17C>G)
c.8756-17C>G (n.8756-17C>G)
c.8687-17C>G (n.8687-17C>G)
c.7091-17C>G (n.7091-17C>G)
n.9227-17C>G
 gnomAD v4
6g.51748682G>TCA2679078654PKHD1c.8951-17C>A (n.8951-17C>A)
c.8822-17C>A (n.8822-17C>A)
c.8813-17C>A (n.8813-17C>A)
c.8309-17C>A (n.8309-17C>A)
c.8240-17C>A (n.8240-17C>A)
c.3026-17C>A (n.3026-17C>A)
c.8876-17C>A (n.8876-17C>A)
c.8756-17C>A (n.8756-17C>A)
c.8687-17C>A (n.8687-17C>A)
c.7091-17C>A (n.7091-17C>A)
n.9227-17C>A
 gnomAD v4
6g.51748683T>ACA2679078655PKHD1c.8951-18A>T (n.8951-18A>T)
c.8822-18A>T (n.8822-18A>T)
c.8813-18A>T (n.8813-18A>T)
c.8309-18A>T (n.8309-18A>T)
c.8240-18A>T (n.8240-18A>T)
c.3026-18A>T (n.3026-18A>T)
c.8876-18A>T (n.8876-18A>T)
c.8756-18A>T (n.8756-18A>T)
c.8687-18A>T (n.8687-18A>T)
c.7091-18A>T (n.7091-18A>T)
n.9227-18A>T
 gnomAD v4
6g.51748684C=CA1628503976PKHD1c.8951-19G= (n.8951-19G=)
c.8822-19G= (n.8822-19G=)
c.8813-19G= (n.8813-19G=)
c.8309-19G= (n.8309-19G=)
c.8240-19G= (n.8240-19G=)
c.3026-19G= (n.3026-19G=)
c.8876-19G= (n.8876-19G=)
c.8756-19G= (n.8756-19G=)
c.8687-19G= (n.8687-19G=)
c.7091-19G= (n.7091-19G=)
n.9227-19G=
6g.51748684C>TCA3851471PKHD1c.8951-19G>A (n.8951-19G>A)
c.8822-19G>A (n.8822-19G>A)
c.8813-19G>A (n.8813-19G>A)
c.8309-19G>A (n.8309-19G>A)
c.8240-19G>A (n.8240-19G>A)
c.3026-19G>A (n.3026-19G>A)
c.8876-19G>A (n.8876-19G>A)
c.8756-19G>A (n.8756-19G>A)
c.8687-19G>A (n.8687-19G>A)
c.7091-19G>A (n.7091-19G>A)
n.9227-19G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748687C>ACA3851472PKHD1c.8951-22G>T (n.8951-22G>T)
c.8822-22G>T (n.8822-22G>T)
c.8813-22G>T (n.8813-22G>T)
c.8309-22G>T (n.8309-22G>T)
c.8240-22G>T (n.8240-22G>T)
c.3026-22G>T (n.3026-22G>T)
c.8876-22G>T (n.8876-22G>T)
c.8756-22G>T (n.8756-22G>T)
c.8687-22G>T (n.8687-22G>T)
c.7091-22G>T (n.7091-22G>T)
n.9227-22G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748687C=CA1628503981PKHD1c.8951-22G= (n.8951-22G=)
c.8822-22G= (n.8822-22G=)
c.8813-22G= (n.8813-22G=)
c.8309-22G= (n.8309-22G=)
c.8240-22G= (n.8240-22G=)
c.3026-22G= (n.3026-22G=)
c.8876-22G= (n.8876-22G=)
c.8756-22G= (n.8756-22G=)
c.8687-22G= (n.8687-22G=)
c.7091-22G= (n.7091-22G=)
n.9227-22G=
6g.51748687C>GCA567636036PKHD1c.8951-22G>C (n.8951-22G>C)
c.8822-22G>C (n.8822-22G>C)
c.8813-22G>C (n.8813-22G>C)
c.8309-22G>C (n.8309-22G>C)
c.8240-22G>C (n.8240-22G>C)
c.3026-22G>C (n.3026-22G>C)
c.8876-22G>C (n.8876-22G>C)
c.8756-22G>C (n.8756-22G>C)
c.8687-22G>C (n.8687-22G>C)
c.7091-22G>C (n.7091-22G>C)
n.9227-22G>C
 dbSNP gnomAD v2 gnomAD v4
6g.51748689G>CCA3851474PKHD1c.8951-24C>G (n.8951-24C>G)
c.8822-24C>G (n.8822-24C>G)
c.8813-24C>G (n.8813-24C>G)
c.8309-24C>G (n.8309-24C>G)
c.8240-24C>G (n.8240-24C>G)
c.3026-24C>G (n.3026-24C>G)
c.8876-24C>G (n.8876-24C>G)
c.8756-24C>G (n.8756-24C>G)
c.8687-24C>G (n.8687-24C>G)
c.7091-24C>G (n.7091-24C>G)
n.9227-24C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748689G=CA1628503982PKHD1c.8951-24C= (n.8951-24C=)
c.8822-24C= (n.8822-24C=)
c.8813-24C= (n.8813-24C=)
c.8309-24C= (n.8309-24C=)
c.8240-24C= (n.8240-24C=)
c.3026-24C= (n.3026-24C=)
c.8876-24C= (n.8876-24C=)
c.8756-24C= (n.8756-24C=)
c.8687-24C= (n.8687-24C=)
c.7091-24C= (n.7091-24C=)
n.9227-24C=
6g.51748689G>TCA3851473PKHD1c.8951-24C>A (n.8951-24C>A)
c.8822-24C>A (n.8822-24C>A)
c.8813-24C>A (n.8813-24C>A)
c.8309-24C>A (n.8309-24C>A)
c.8240-24C>A (n.8240-24C>A)
c.3026-24C>A (n.3026-24C>A)
c.8876-24C>A (n.8876-24C>A)
c.8756-24C>A (n.8756-24C>A)
c.8687-24C>A (n.8687-24C>A)
c.7091-24C>A (n.7091-24C>A)
n.9227-24C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748690G>ACA3851475PKHD1c.8951-25C>T (n.8951-25C>T)
c.8822-25C>T (n.8822-25C>T)
c.8813-25C>T (n.8813-25C>T)
c.8309-25C>T (n.8309-25C>T)
c.8240-25C>T (n.8240-25C>T)
c.3026-25C>T (n.3026-25C>T)
c.8876-25C>T (n.8876-25C>T)
c.8756-25C>T (n.8756-25C>T)
c.8687-25C>T (n.8687-25C>T)
c.7091-25C>T (n.7091-25C>T)
n.9227-25C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748690G>CCA2578644768PKHD1c.8951-25C>G (n.8951-25C>G)
c.8822-25C>G (n.8822-25C>G)
c.8813-25C>G (n.8813-25C>G)
c.8309-25C>G (n.8309-25C>G)
c.8240-25C>G (n.8240-25C>G)
c.3026-25C>G (n.3026-25C>G)
c.8876-25C>G (n.8876-25C>G)
c.8756-25C>G (n.8756-25C>G)
c.8687-25C>G (n.8687-25C>G)
c.7091-25C>G (n.7091-25C>G)
n.9227-25C>G
 gnomAD v4
6g.51748690G=CA1628503987PKHD1c.8951-25C= (n.8951-25C=)
c.8822-25C= (n.8822-25C=)
c.8813-25C= (n.8813-25C=)
c.8309-25C= (n.8309-25C=)
c.8240-25C= (n.8240-25C=)
c.3026-25C= (n.3026-25C=)
c.8876-25C= (n.8876-25C=)
c.8756-25C= (n.8756-25C=)
c.8687-25C= (n.8687-25C=)
c.7091-25C= (n.7091-25C=)
n.9227-25C=
6g.51748691T>CCA567636037PKHD1c.8951-26A>G (n.8951-26A>G)
c.8822-26A>G (n.8822-26A>G)
c.8813-26A>G (n.8813-26A>G)
c.8309-26A>G (n.8309-26A>G)
c.8240-26A>G (n.8240-26A>G)
c.3026-26A>G (n.3026-26A>G)
c.8876-26A>G (n.8876-26A>G)
c.8756-26A>G (n.8756-26A>G)
c.8687-26A>G (n.8687-26A>G)
c.7091-26A>G (n.7091-26A>G)
n.9227-26A>G
 dbSNP gnomAD v2 gnomAD v4
6g.51748691T>GCA567636038PKHD1c.8951-26A>C (n.8951-26A>C)
c.8822-26A>C (n.8822-26A>C)
c.8813-26A>C (n.8813-26A>C)
c.8309-26A>C (n.8309-26A>C)
c.8240-26A>C (n.8240-26A>C)
c.3026-26A>C (n.3026-26A>C)
c.8876-26A>C (n.8876-26A>C)
c.8756-26A>C (n.8756-26A>C)
c.8687-26A>C (n.8687-26A>C)
c.7091-26A>C (n.7091-26A>C)
n.9227-26A>C
 dbSNP gnomAD v2 gnomAD v4
6g.51748691T=CA1628503988PKHD1c.8951-26A= (n.8951-26A=)
c.8822-26A= (n.8822-26A=)
c.8813-26A= (n.8813-26A=)
c.8309-26A= (n.8309-26A=)
c.8240-26A= (n.8240-26A=)
c.3026-26A= (n.3026-26A=)
c.8876-26A= (n.8876-26A=)
c.8756-26A= (n.8756-26A=)
c.8687-26A= (n.8687-26A=)
c.7091-26A= (n.7091-26A=)
n.9227-26A=

Number of alleles fetched