Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51748590A>CCA364424144PKHD1c.9026T>G (p.Val3009Gly)
c.8897T>G (p.Val2966Gly)
c.8888T>G (p.Val2963Gly)
c.8384T>G (p.Val2795Gly)
c.8315T>G (p.Val2772Gly)
c.3101T>G (p.Val1034Gly)
c.8951T>G (p.Val2984Gly)
c.8831T>G (p.Val2944Gly)
c.8762T>G (p.Val2921Gly)
c.7166T>G (p.Val2389Gly)
n.9302T>G
6g.51748590A>GCA364424145PKHD1c.9026T>C (p.Val3009Ala)
c.8897T>C (p.Val2966Ala)
c.8888T>C (p.Val2963Ala)
c.8384T>C (p.Val2795Ala)
c.8315T>C (p.Val2772Ala)
c.3101T>C (p.Val1034Ala)
c.8951T>C (p.Val2984Ala)
c.8831T>C (p.Val2944Ala)
c.8762T>C (p.Val2921Ala)
c.7166T>C (p.Val2389Ala)
n.9302T>C
6g.51748590A>TCA364424147PKHD1c.9026T>A (p.Val3009Glu)
c.8897T>A (p.Val2966Glu)
c.8888T>A (p.Val2963Glu)
c.8384T>A (p.Val2795Glu)
c.8315T>A (p.Val2772Glu)
c.3101T>A (p.Val1034Glu)
c.8951T>A (p.Val2984Glu)
c.8831T>A (p.Val2944Glu)
c.8762T>A (p.Val2921Glu)
c.7166T>A (p.Val2389Glu)
n.9302T>A
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

Number of alleles fetched