Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51747966T>ACA364420612PKHD1c.9650A>T (p.Asp3217Val)
c.9521A>T (p.Asp3174Val)
c.9512A>T (p.Asp3171Val)
c.9008A>T (p.Asp3003Val)
c.8939A>T (p.Asp2980Val)
c.3725A>T (p.Asp1242Val)
c.9575A>T (p.Asp3192Val)
c.9455A>T (p.Asp3152Val)
c.9386A>T (p.Asp3129Val)
c.7790A>T (p.Asp2597Val)
n.9926A>T
6g.51747966T>CCA364420613PKHD1c.9650A>G (p.Asp3217Gly)
c.9521A>G (p.Asp3174Gly)
c.9512A>G (p.Asp3171Gly)
c.9008A>G (p.Asp3003Gly)
c.8939A>G (p.Asp2980Gly)
c.3725A>G (p.Asp1242Gly)
c.9575A>G (p.Asp3192Gly)
c.9455A>G (p.Asp3152Gly)
c.9386A>G (p.Asp3129Gly)
c.7790A>G (p.Asp2597Gly)
n.9926A>G
6g.51747966T>GCA364420614PKHD1c.9650A>C (p.Asp3217Ala)
c.9521A>C (p.Asp3174Ala)
c.9512A>C (p.Asp3171Ala)
c.9008A>C (p.Asp3003Ala)
c.8939A>C (p.Asp2980Ala)
c.3725A>C (p.Asp1242Ala)
c.9575A>C (p.Asp3192Ala)
c.9455A>C (p.Asp3152Ala)
c.9386A>C (p.Asp3129Ala)
c.7790A>C (p.Asp2597Ala)
n.9926A>C
6g.51747967C>ACA3851358PKHD1c.9649G>T (p.Asp3217Tyr)
c.9520G>T (p.Asp3174Tyr)
c.9511G>T (p.Asp3171Tyr)
c.9007G>T (p.Asp3003Tyr)
c.8938G>T (p.Asp2980Tyr)
c.3724G>T (p.Asp1242Tyr)
c.9574G>T (p.Asp3192Tyr)
c.9454G>T (p.Asp3152Tyr)
c.9385G>T (p.Asp3129Tyr)
c.7789G>T (p.Asp2597Tyr)
n.9925G>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.51747967C=CA1628502208PKHD1c.9649G= (p.Asp3217=)
c.9520G= (p.Asp3174=)
c.9511G= (p.Asp3171=)
c.9007G= (p.Asp3003=)
c.8938G= (p.Asp2980=)
c.3724G= (p.Asp1242=)
c.9574G= (p.Asp3192=)
c.9454G= (p.Asp3152=)
c.9385G= (p.Asp3129=)
c.7789G= (p.Asp2597=)
n.9925G=
6g.51747967C>GCA364420615PKHD1c.9649G>C (p.Asp3217His)
c.9520G>C (p.Asp3174His)
c.9511G>C (p.Asp3171His)
c.9007G>C (p.Asp3003His)
c.8938G>C (p.Asp2980His)
c.3724G>C (p.Asp1242His)
c.9574G>C (p.Asp3192His)
c.9454G>C (p.Asp3152His)
c.9385G>C (p.Asp3129His)
c.7789G>C (p.Asp2597His)
n.9925G>C
 gnomAD v4
6g.51747967C>TCA364420616PKHD1c.9649G>A (p.Asp3217Asn)
c.9520G>A (p.Asp3174Asn)
c.9511G>A (p.Asp3171Asn)
c.9007G>A (p.Asp3003Asn)
c.8938G>A (p.Asp2980Asn)
c.3724G>A (p.Asp1242Asn)
c.9574G>A (p.Asp3192Asn)
c.9454G>A (p.Asp3152Asn)
c.9385G>A (p.Asp3129Asn)
c.7789G>A (p.Asp2597Asn)
n.9925G>A
6g.51747968C>ACA364420617PKHD1c.9648G>T (p.Gln3216His)
c.9519G>T (p.Gln3173His)
c.9510G>T (p.Gln3170His)
c.9006G>T (p.Gln3002His)
c.8937G>T (p.Gln2979His)
c.3723G>T (p.Gln1241His)
c.9573G>T (p.Gln3191His)
c.9453G>T (p.Gln3151His)
c.9384G>T (p.Gln3128His)
c.7788G>T (p.Gln2596His)
n.9924G>T
6g.51747968C>GCA364420618PKHD1c.9648G>C (p.Gln3216His)
c.9519G>C (p.Gln3173His)
c.9510G>C (p.Gln3170His)
c.9006G>C (p.Gln3002His)
c.8937G>C (p.Gln2979His)
c.3723G>C (p.Gln1241His)
c.9573G>C (p.Gln3191His)
c.9453G>C (p.Gln3151His)
c.9384G>C (p.Gln3128His)
c.7788G>C (p.Gln2596His)
n.9924G>C
6g.51747968C>TCA450613642PKHD1c.9648G>A (p.Gln3216=)
c.9519G>A (p.Gln3173=)
c.9510G>A (p.Gln3170=)
c.9006G>A (p.Gln3002=)
c.8937G>A (p.Gln2979=)
c.3723G>A (p.Gln1241=)
c.9573G>A (p.Gln3191=)
c.9453G>A (p.Gln3151=)
c.9384G>A (p.Gln3128=)
c.7788G>A (p.Gln2596=)
n.9924G>A
6g.51747969T>ACA364420619PKHD1c.9647A>T (p.Gln3216Leu)
c.9518A>T (p.Gln3173Leu)
c.9509A>T (p.Gln3170Leu)
c.9005A>T (p.Gln3002Leu)
c.8936A>T (p.Gln2979Leu)
c.3722A>T (p.Gln1241Leu)
c.9572A>T (p.Gln3191Leu)
c.9452A>T (p.Gln3151Leu)
c.9383A>T (p.Gln3128Leu)
c.7787A>T (p.Gln2596Leu)
n.9923A>T
6g.51747969T>CCA364420620PKHD1c.9647A>G (p.Gln3216Arg)
c.9518A>G (p.Gln3173Arg)
c.9509A>G (p.Gln3170Arg)
c.9005A>G (p.Gln3002Arg)
c.8936A>G (p.Gln2979Arg)
c.3722A>G (p.Gln1241Arg)
c.9572A>G (p.Gln3191Arg)
c.9452A>G (p.Gln3151Arg)
c.9383A>G (p.Gln3128Arg)
c.7787A>G (p.Gln2596Arg)
n.9923A>G
6g.51747969T>GCA364420621PKHD1c.9647A>C (p.Gln3216Pro)
c.9518A>C (p.Gln3173Pro)
c.9509A>C (p.Gln3170Pro)
c.9005A>C (p.Gln3002Pro)
c.8936A>C (p.Gln2979Pro)
c.3722A>C (p.Gln1241Pro)
c.9572A>C (p.Gln3191Pro)
c.9452A>C (p.Gln3151Pro)
c.9383A>C (p.Gln3128Pro)
c.7787A>C (p.Gln2596Pro)
n.9923A>C
6g.51747970G>ACA3851359PKHD1c.9646C>T (p.Gln3216Ter)
c.9517C>T (p.Gln3173Ter)
c.9508C>T (p.Gln3170Ter)
c.9004C>T (p.Gln3002Ter)
c.8935C>T (p.Gln2979Ter)
c.3721C>T (p.Gln1241Ter)
c.9571C>T (p.Gln3191Ter)
c.9451C>T (p.Gln3151Ter)
c.9382C>T (p.Gln3128Ter)
c.7786C>T (p.Gln2596Ter)
n.9922C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51747970G>CCA364420623PKHD1c.9646C>G (p.Gln3216Glu)
c.9517C>G (p.Gln3173Glu)
c.9508C>G (p.Gln3170Glu)
c.9004C>G (p.Gln3002Glu)
c.8935C>G (p.Gln2979Glu)
c.3721C>G (p.Gln1241Glu)
c.9571C>G (p.Gln3191Glu)
c.9451C>G (p.Gln3151Glu)
c.9382C>G (p.Gln3128Glu)
c.7786C>G (p.Gln2596Glu)
n.9922C>G
6g.51747970G=CA1628502213PKHD1c.9646C= (p.Gln3216=)
c.9517C= (p.Gln3173=)
c.9508C= (p.Gln3170=)
c.9004C= (p.Gln3002=)
c.8935C= (p.Gln2979=)
c.3721C= (p.Gln1241=)
c.9571C= (p.Gln3191=)
c.9451C= (p.Gln3151=)
c.9382C= (p.Gln3128=)
c.7786C= (p.Gln2596=)
n.9922C=
6g.51747970G>TCA364420622PKHD1c.9646C>A (p.Gln3216Lys)
c.9517C>A (p.Gln3173Lys)
c.9508C>A (p.Gln3170Lys)
c.9004C>A (p.Gln3002Lys)
c.8935C>A (p.Gln2979Lys)
c.3721C>A (p.Gln1241Lys)
c.9571C>A (p.Gln3191Lys)
c.9451C>A (p.Gln3151Lys)
c.9382C>A (p.Gln3128Lys)
c.7786C>A (p.Gln2596Lys)
n.9922C>A
6g.51747971A>CCA364420624PKHD1c.9645T>G (p.Ile3215Met)
c.9516T>G (p.Ile3172Met)
c.9507T>G (p.Ile3169Met)
c.9003T>G (p.Ile3001Met)
c.8934T>G (p.Ile2978Met)
c.3720T>G (p.Ile1240Met)
c.9570T>G (p.Ile3190Met)
c.9450T>G (p.Ile3150Met)
c.9381T>G (p.Ile3127Met)
c.7785T>G (p.Ile2595Met)
n.9921T>G
6g.51747971A>GCA450613646PKHD1c.9645T>C (p.Ile3215=)
c.9516T>C (p.Ile3172=)
c.9507T>C (p.Ile3169=)
c.9003T>C (p.Ile3001=)
c.8934T>C (p.Ile2978=)
c.3720T>C (p.Ile1240=)
c.9570T>C (p.Ile3190=)
c.9450T>C (p.Ile3150=)
c.9381T>C (p.Ile3127=)
c.7785T>C (p.Ile2595=)
n.9921T>C
6g.51747971A>TCA450613648PKHD1c.9645T>A (p.Ile3215=)
c.9516T>A (p.Ile3172=)
c.9507T>A (p.Ile3169=)
c.9003T>A (p.Ile3001=)
c.8934T>A (p.Ile2978=)
c.3720T>A (p.Ile1240=)
c.9570T>A (p.Ile3190=)
c.9450T>A (p.Ile3150=)
c.9381T>A (p.Ile3127=)
c.7785T>A (p.Ile2595=)
n.9921T>A
6g.51747972A=CA1628502220PKHD1c.9644T= (p.Ile3215=)
c.9515T= (p.Ile3172=)
c.9506T= (p.Ile3169=)
c.9002T= (p.Ile3001=)
c.8933T= (p.Ile2978=)
c.3719T= (p.Ile1240=)
c.9569T= (p.Ile3190=)
c.9449T= (p.Ile3150=)
c.9380T= (p.Ile3127=)
c.7784T= (p.Ile2595=)
n.9920T=
6g.51747972A>CCA364420625PKHD1c.9644T>G (p.Ile3215Ser)
c.9515T>G (p.Ile3172Ser)
c.9506T>G (p.Ile3169Ser)
c.9002T>G (p.Ile3001Ser)
c.8933T>G (p.Ile2978Ser)
c.3719T>G (p.Ile1240Ser)
c.9569T>G (p.Ile3190Ser)
c.9449T>G (p.Ile3150Ser)
c.9380T>G (p.Ile3127Ser)
c.7784T>G (p.Ile2595Ser)
n.9920T>G
6g.51747972A>GCA364420626PKHD1c.9644T>C (p.Ile3215Thr)
c.9515T>C (p.Ile3172Thr)
c.9506T>C (p.Ile3169Thr)
c.9002T>C (p.Ile3001Thr)
c.8933T>C (p.Ile2978Thr)
c.3719T>C (p.Ile1240Thr)
c.9569T>C (p.Ile3190Thr)
c.9449T>C (p.Ile3150Thr)
c.9380T>C (p.Ile3127Thr)
c.7784T>C (p.Ile2595Thr)
n.9920T>C
 gnomAD v4
6g.51747972A>TCA364420627PKHD1c.9644T>A (p.Ile3215Asn)
c.9515T>A (p.Ile3172Asn)
c.9506T>A (p.Ile3169Asn)
c.9002T>A (p.Ile3001Asn)
c.8933T>A (p.Ile2978Asn)
c.3719T>A (p.Ile1240Asn)
c.9569T>A (p.Ile3190Asn)
c.9449T>A (p.Ile3150Asn)
c.9380T>A (p.Ile3127Asn)
c.7784T>A (p.Ile2595Asn)
n.9920T>A
6g.51747972_51747973insGCA1628502226PKHD1c.9643_9644insC (p.Ile3215ThrfsTer17)
c.9514_9515insC (p.Ile3172ThrfsTer17)
c.9505_9506insC (p.Ile3169ThrfsTer17)
c.9001_9002insC (p.Ile3001ThrfsTer17)
c.8932_8933insC (p.Ile2978ThrfsTer17)
c.3718_3719insC (p.Ile1240ThrfsTer17)
c.9568_9569insC (p.Ile3190ThrfsTer17)
c.9448_9449insC (p.Ile3150ThrfsTer17)
c.9379_9380insC (p.Ile3127ThrfsTer17)
c.7783_7784insC (p.Ile2595ThrfsTer17)
n.9919_9920insC
 dbSNP
6g.51747973T>ACA364420628PKHD1c.9643A>T (p.Ile3215Phe)
c.9514A>T (p.Ile3172Phe)
c.9505A>T (p.Ile3169Phe)
c.9001A>T (p.Ile3001Phe)
c.8932A>T (p.Ile2978Phe)
c.3718A>T (p.Ile1240Phe)
c.9568A>T (p.Ile3190Phe)
c.9448A>T (p.Ile3150Phe)
c.9379A>T (p.Ile3127Phe)
c.7783A>T (p.Ile2595Phe)
n.9919A>T
6g.51747973T>CCA364420629PKHD1c.9643A>G (p.Ile3215Val)
c.9514A>G (p.Ile3172Val)
c.9505A>G (p.Ile3169Val)
c.9001A>G (p.Ile3001Val)
c.8932A>G (p.Ile2978Val)
c.3718A>G (p.Ile1240Val)
c.9568A>G (p.Ile3190Val)
c.9448A>G (p.Ile3150Val)
c.9379A>G (p.Ile3127Val)
c.7783A>G (p.Ile2595Val)
n.9919A>G
 gnomAD v4
6g.51747973T>GCA364420630PKHD1c.9643A>C (p.Ile3215Leu)
c.9514A>C (p.Ile3172Leu)
c.9505A>C (p.Ile3169Leu)
c.9001A>C (p.Ile3001Leu)
c.8932A>C (p.Ile2978Leu)
c.3718A>C (p.Ile1240Leu)
c.9568A>C (p.Ile3190Leu)
c.9448A>C (p.Ile3150Leu)
c.9379A>C (p.Ile3127Leu)
c.7783A>C (p.Ile2595Leu)
n.9919A>C
 gnomAD v4
6g.51747973T=CA1628502223PKHD1c.9643A= (p.Ile3215=)
c.9514A= (p.Ile3172=)
c.9505A= (p.Ile3169=)
c.9001A= (p.Ile3001=)
c.8932A= (p.Ile2978=)
c.3718A= (p.Ile1240=)
c.9568A= (p.Ile3190=)
c.9448A= (p.Ile3150=)
c.9379A= (p.Ile3127=)
c.7783A= (p.Ile2595=)
n.9919A=
6g.51747974G>ACA450613650PKHD1c.9642C>T (p.Cys3214=)
c.9513C>T (p.Cys3171=)
c.9504C>T (p.Cys3168=)
c.9000C>T (p.Cys3000=)
c.8931C>T (p.Cys2977=)
c.3717C>T (p.Cys1239=)
c.9567C>T (p.Cys3189=)
c.9447C>T (p.Cys3149=)
c.9378C>T (p.Cys3126=)
c.7782C>T (p.Cys2594=)
n.9918C>T
6g.51747974G>CCA364420631PKHD1c.9642C>G (p.Cys3214Trp)
c.9513C>G (p.Cys3171Trp)
c.9504C>G (p.Cys3168Trp)
c.9000C>G (p.Cys3000Trp)
c.8931C>G (p.Cys2977Trp)
c.3717C>G (p.Cys1239Trp)
c.9567C>G (p.Cys3189Trp)
c.9447C>G (p.Cys3149Trp)
c.9378C>G (p.Cys3126Trp)
c.7782C>G (p.Cys2594Trp)
n.9918C>G
6g.51747974G>TCA364420632PKHD1c.9642C>A (p.Cys3214Ter)
c.9513C>A (p.Cys3171Ter)
c.9504C>A (p.Cys3168Ter)
c.9000C>A (p.Cys3000Ter)
c.8931C>A (p.Cys2977Ter)
c.3717C>A (p.Cys1239Ter)
c.9567C>A (p.Cys3189Ter)
c.9447C>A (p.Cys3149Ter)
c.9378C>A (p.Cys3126Ter)
c.7782C>A (p.Cys2594Ter)
n.9918C>A
 gnomAD v3 gnomAD v4
6g.51747974_51747975insACAGCA1628502230PKHD1c.9642_9643insTGTC (p.Ile3215CysfsTer18)
c.9513_9514insTGTC (p.Ile3172CysfsTer18)
c.9504_9505insTGTC (p.Ile3169CysfsTer18)
c.9000_9001insTGTC (p.Ile3001CysfsTer18)
c.8931_8932insTGTC (p.Ile2978CysfsTer18)
c.3717_3718insTGTC (p.Ile1240CysfsTer18)
c.9567_9568insTGTC (p.Ile3190CysfsTer18)
c.9447_9448insTGTC (p.Ile3150CysfsTer18)
c.9378_9379insTGTC (p.Ile3127CysfsTer18)
c.7782_7783insTGTC (p.Ile2595CysfsTer18)
n.9918_9919insTGTC
 dbSNP
6g.51747975C>ACA364420633PKHD1c.9641G>T (p.Cys3214Phe)
c.9512G>T (p.Cys3171Phe)
c.9503G>T (p.Cys3168Phe)
c.8999G>T (p.Cys3000Phe)
c.8930G>T (p.Cys2977Phe)
c.3716G>T (p.Cys1239Phe)
c.9566G>T (p.Cys3189Phe)
c.9446G>T (p.Cys3149Phe)
c.9377G>T (p.Cys3126Phe)
c.7781G>T (p.Cys2594Phe)
n.9917G>T
6g.51747975C>GCA364420634PKHD1c.9641G>C (p.Cys3214Ser)
c.9512G>C (p.Cys3171Ser)
c.9503G>C (p.Cys3168Ser)
c.8999G>C (p.Cys3000Ser)
c.8930G>C (p.Cys2977Ser)
c.3716G>C (p.Cys1239Ser)
c.9566G>C (p.Cys3189Ser)
c.9446G>C (p.Cys3149Ser)
c.9377G>C (p.Cys3126Ser)
c.7781G>C (p.Cys2594Ser)
n.9917G>C
6g.51747975C>TCA364420635PKHD1c.9641G>A (p.Cys3214Tyr)
c.9512G>A (p.Cys3171Tyr)
c.9503G>A (p.Cys3168Tyr)
c.8999G>A (p.Cys3000Tyr)
c.8930G>A (p.Cys2977Tyr)
c.3716G>A (p.Cys1239Tyr)
c.9566G>A (p.Cys3189Tyr)
c.9446G>A (p.Cys3149Tyr)
c.9377G>A (p.Cys3126Tyr)
c.7781G>A (p.Cys2594Tyr)
n.9917G>A
 gnomAD v3 gnomAD v4
6g.51747976A>CCA364420638PKHD1c.9640T>G (p.Cys3214Gly)
c.9511T>G (p.Cys3171Gly)
c.9502T>G (p.Cys3168Gly)
c.8998T>G (p.Cys3000Gly)
c.8929T>G (p.Cys2977Gly)
c.3715T>G (p.Cys1239Gly)
c.9565T>G (p.Cys3189Gly)
c.9445T>G (p.Cys3149Gly)
c.9376T>G (p.Cys3126Gly)
c.7780T>G (p.Cys2594Gly)
n.9916T>G
 gnomAD v4
6g.51747976A>GCA364420636PKHD1c.9640T>C (p.Cys3214Arg)
c.9511T>C (p.Cys3171Arg)
c.9502T>C (p.Cys3168Arg)
c.8998T>C (p.Cys3000Arg)
c.8929T>C (p.Cys2977Arg)
c.3715T>C (p.Cys1239Arg)
c.9565T>C (p.Cys3189Arg)
c.9445T>C (p.Cys3149Arg)
c.9376T>C (p.Cys3126Arg)
c.7780T>C (p.Cys2594Arg)
n.9916T>C
6g.51747976A>TCA364420637PKHD1c.9640T>A (p.Cys3214Ser)
c.9511T>A (p.Cys3171Ser)
c.9502T>A (p.Cys3168Ser)
c.8998T>A (p.Cys3000Ser)
c.8929T>A (p.Cys2977Ser)
c.3715T>A (p.Cys1239Ser)
c.9565T>A (p.Cys3189Ser)
c.9445T>A (p.Cys3149Ser)
c.9376T>A (p.Cys3126Ser)
c.7780T>A (p.Cys2594Ser)
n.9916T>A
 gnomAD v4
6g.51747977G>ACA450613652PKHD1c.9639C>T (p.Asp3213=)
c.9510C>T (p.Asp3170=)
c.9501C>T (p.Asp3167=)
c.8997C>T (p.Asp2999=)
c.8928C>T (p.Asp2976=)
c.3714C>T (p.Asp1238=)
c.9564C>T (p.Asp3188=)
c.9444C>T (p.Asp3148=)
c.9375C>T (p.Asp3125=)
c.7779C>T (p.Asp2593=)
n.9915C>T
 gnomAD v4
6g.51747977G>CCA364420639PKHD1c.9639C>G (p.Asp3213Glu)
c.9510C>G (p.Asp3170Glu)
c.9501C>G (p.Asp3167Glu)
c.8997C>G (p.Asp2999Glu)
c.8928C>G (p.Asp2976Glu)
c.3714C>G (p.Asp1238Glu)
c.9564C>G (p.Asp3188Glu)
c.9444C>G (p.Asp3148Glu)
c.9375C>G (p.Asp3125Glu)
c.7779C>G (p.Asp2593Glu)
n.9915C>G
6g.51747977G>TCA364420640PKHD1c.9639C>A (p.Asp3213Glu)
c.9510C>A (p.Asp3170Glu)
c.9501C>A (p.Asp3167Glu)
c.8997C>A (p.Asp2999Glu)
c.8928C>A (p.Asp2976Glu)
c.3714C>A (p.Asp1238Glu)
c.9564C>A (p.Asp3188Glu)
c.9444C>A (p.Asp3148Glu)
c.9375C>A (p.Asp3125Glu)
c.7779C>A (p.Asp2593Glu)
n.9915C>A
6g.51747978T>ACA364420641PKHD1c.9638A>T (p.Asp3213Val)
c.9509A>T (p.Asp3170Val)
c.9500A>T (p.Asp3167Val)
c.8996A>T (p.Asp2999Val)
c.8927A>T (p.Asp2976Val)
c.3713A>T (p.Asp1238Val)
c.9563A>T (p.Asp3188Val)
c.9443A>T (p.Asp3148Val)
c.9374A>T (p.Asp3125Val)
c.7778A>T (p.Asp2593Val)
n.9914A>T
6g.51747978T>CCA364420642PKHD1c.9638A>G (p.Asp3213Gly)
c.9509A>G (p.Asp3170Gly)
c.9500A>G (p.Asp3167Gly)
c.8996A>G (p.Asp2999Gly)
c.8927A>G (p.Asp2976Gly)
c.3713A>G (p.Asp1238Gly)
c.9563A>G (p.Asp3188Gly)
c.9443A>G (p.Asp3148Gly)
c.9374A>G (p.Asp3125Gly)
c.7778A>G (p.Asp2593Gly)
n.9914A>G
6g.51747978T>GCA364420643PKHD1c.9638A>C (p.Asp3213Ala)
c.9509A>C (p.Asp3170Ala)
c.9500A>C (p.Asp3167Ala)
c.8996A>C (p.Asp2999Ala)
c.8927A>C (p.Asp2976Ala)
c.3713A>C (p.Asp1238Ala)
c.9563A>C (p.Asp3188Ala)
c.9443A>C (p.Asp3148Ala)
c.9374A>C (p.Asp3125Ala)
c.7778A>C (p.Asp2593Ala)
n.9914A>C
6g.51747979C>ACA364420644PKHD1c.9637G>T (p.Asp3213Tyr)
c.9508G>T (p.Asp3170Tyr)
c.9499G>T (p.Asp3167Tyr)
c.8995G>T (p.Asp2999Tyr)
c.8926G>T (p.Asp2976Tyr)
c.3712G>T (p.Asp1238Tyr)
c.9562G>T (p.Asp3188Tyr)
c.9442G>T (p.Asp3148Tyr)
c.9373G>T (p.Asp3125Tyr)
c.7777G>T (p.Asp2593Tyr)
n.9913G>T
6g.51747979C=CA1628502235PKHD1c.9637G= (p.Asp3213=)
c.9508G= (p.Asp3170=)
c.9499G= (p.Asp3167=)
c.8995G= (p.Asp2999=)
c.8926G= (p.Asp2976=)
c.3712G= (p.Asp1238=)
c.9562G= (p.Asp3188=)
c.9442G= (p.Asp3148=)
c.9373G= (p.Asp3125=)
c.7777G= (p.Asp2593=)
n.9913G=
6g.51747979C>GCA3851360PKHD1c.9637G>C (p.Asp3213His)
c.9508G>C (p.Asp3170His)
c.9499G>C (p.Asp3167His)
c.8995G>C (p.Asp2999His)
c.8926G>C (p.Asp2976His)
c.3712G>C (p.Asp1238His)
c.9562G>C (p.Asp3188His)
c.9442G>C (p.Asp3148His)
c.9373G>C (p.Asp3125His)
c.7777G>C (p.Asp2593His)
n.9913G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51747979C>TCA364420645PKHD1c.9637G>A (p.Asp3213Asn)
c.9508G>A (p.Asp3170Asn)
c.9499G>A (p.Asp3167Asn)
c.8995G>A (p.Asp2999Asn)
c.8926G>A (p.Asp2976Asn)
c.3712G>A (p.Asp1238Asn)
c.9562G>A (p.Asp3188Asn)
c.9442G>A (p.Asp3148Asn)
c.9373G>A (p.Asp3125Asn)
c.7777G>A (p.Asp2593Asn)
n.9913G>A
6g.51747980A=CA1628502236PKHD1c.9636T= (p.Phe3212=)
c.9507T= (p.Phe3169=)
c.9498T= (p.Phe3166=)
c.8994T= (p.Phe2998=)
c.8925T= (p.Phe2975=)
c.3711T= (p.Phe1237=)
c.9561T= (p.Phe3187=)
c.9441T= (p.Phe3147=)
c.9372T= (p.Phe3124=)
c.7776T= (p.Phe2592=)
n.9912T=
6g.51747980A>CCA364420646PKHD1c.9636T>G (p.Phe3212Leu)
c.9507T>G (p.Phe3169Leu)
c.9498T>G (p.Phe3166Leu)
c.8994T>G (p.Phe2998Leu)
c.8925T>G (p.Phe2975Leu)
c.3711T>G (p.Phe1237Leu)
c.9561T>G (p.Phe3187Leu)
c.9441T>G (p.Phe3147Leu)
c.9372T>G (p.Phe3124Leu)
c.7776T>G (p.Phe2592Leu)
n.9912T>G
 dbSNP
6g.51747980A>GCA450613653PKHD1c.9636T>C (p.Phe3212=)
c.9507T>C (p.Phe3169=)
c.9498T>C (p.Phe3166=)
c.8994T>C (p.Phe2998=)
c.8925T>C (p.Phe2975=)
c.3711T>C (p.Phe1237=)
c.9561T>C (p.Phe3187=)
c.9441T>C (p.Phe3147=)
c.9372T>C (p.Phe3124=)
c.7776T>C (p.Phe2592=)
n.9912T>C
 ClinVar dbSNP
6g.51747980A>TCA364420647PKHD1c.9636T>A (p.Phe3212Leu)
c.9507T>A (p.Phe3169Leu)
c.9498T>A (p.Phe3166Leu)
c.8994T>A (p.Phe2998Leu)
c.8925T>A (p.Phe2975Leu)
c.3711T>A (p.Phe1237Leu)
c.9561T>A (p.Phe3187Leu)
c.9441T>A (p.Phe3147Leu)
c.9372T>A (p.Phe3124Leu)
c.7776T>A (p.Phe2592Leu)
n.9912T>A
6g.51747981A>CCA364420648PKHD1c.9635T>G (p.Phe3212Cys)
c.9506T>G (p.Phe3169Cys)
c.9497T>G (p.Phe3166Cys)
c.8993T>G (p.Phe2998Cys)
c.8924T>G (p.Phe2975Cys)
c.3710T>G (p.Phe1237Cys)
c.9560T>G (p.Phe3187Cys)
c.9440T>G (p.Phe3147Cys)
c.9371T>G (p.Phe3124Cys)
c.7775T>G (p.Phe2592Cys)
n.9911T>G
6g.51747981A>GCA364420649PKHD1c.9635T>C (p.Phe3212Ser)
c.9506T>C (p.Phe3169Ser)
c.9497T>C (p.Phe3166Ser)
c.8993T>C (p.Phe2998Ser)
c.8924T>C (p.Phe2975Ser)
c.3710T>C (p.Phe1237Ser)
c.9560T>C (p.Phe3187Ser)
c.9440T>C (p.Phe3147Ser)
c.9371T>C (p.Phe3124Ser)
c.7775T>C (p.Phe2592Ser)
n.9911T>C
 gnomAD v4 COSMIC COSMIC
6g.51747981A>TCA364420650PKHD1c.9635T>A (p.Phe3212Tyr)
c.9506T>A (p.Phe3169Tyr)
c.9497T>A (p.Phe3166Tyr)
c.8993T>A (p.Phe2998Tyr)
c.8924T>A (p.Phe2975Tyr)
c.3710T>A (p.Phe1237Tyr)
c.9560T>A (p.Phe3187Tyr)
c.9440T>A (p.Phe3147Tyr)
c.9371T>A (p.Phe3124Tyr)
c.7775T>A (p.Phe2592Tyr)
n.9911T>A
6g.51747981_51747984delinsAAAGCA1628502240PKHD1c.9632_9635delinsCTTT (p.Ser3211=)
c.9503_9506delinsCTTT (p.Ser3168=)
c.9494_9497delinsCTTT (p.Ser3165=)
c.8990_8993delinsCTTT (p.Ser2997=)
c.8921_8924delinsCTTT (p.Ser2974=)
c.3707_3710delinsCTTT (p.Ser1236=)
c.9557_9560delinsCTTT (p.Ser3186=)
c.9437_9440delinsCTTT (p.Ser3146=)
c.9368_9371delinsCTTT (p.Ser3123=)
c.7772_7775delinsCTTT (p.Ser2591=)
n.9908_9911delinsCTTT
6g.51747982A>CCA364420653PKHD1c.9634T>G (p.Phe3212Val)
c.9505T>G (p.Phe3169Val)
c.9496T>G (p.Phe3166Val)
c.8992T>G (p.Phe2998Val)
c.8923T>G (p.Phe2975Val)
c.3709T>G (p.Phe1237Val)
c.9559T>G (p.Phe3187Val)
c.9439T>G (p.Phe3147Val)
c.9370T>G (p.Phe3124Val)
c.7774T>G (p.Phe2592Val)
n.9910T>G
6g.51747982A>GCA364420652PKHD1c.9634T>C (p.Phe3212Leu)
c.9505T>C (p.Phe3169Leu)
c.9496T>C (p.Phe3166Leu)
c.8992T>C (p.Phe2998Leu)
c.8923T>C (p.Phe2975Leu)
c.3709T>C (p.Phe1237Leu)
c.9559T>C (p.Phe3187Leu)
c.9439T>C (p.Phe3147Leu)
c.9370T>C (p.Phe3124Leu)
c.7774T>C (p.Phe2592Leu)
n.9910T>C
6g.51747982A>TCA364420651PKHD1c.9634T>A (p.Phe3212Ile)
c.9505T>A (p.Phe3169Ile)
c.9496T>A (p.Phe3166Ile)
c.8992T>A (p.Phe2998Ile)
c.8923T>A (p.Phe2975Ile)
c.3709T>A (p.Phe1237Ile)
c.9559T>A (p.Phe3187Ile)
c.9439T>A (p.Phe3147Ile)
c.9370T>A (p.Phe3124Ile)
c.7774T>A (p.Phe2592Ile)
n.9910T>A
6g.51747986_51747988delCA1088960994PKHD1c.9632_9634del (p.Ser3211del)
c.9503_9505del (p.Ser3168del)
c.9494_9496del (p.Ser3165del)
c.8990_8992del (p.Ser2997del)
c.8921_8923del (p.Ser2974del)
c.3707_3709del (p.Ser1236del)
c.9557_9559del (p.Ser3186del)
c.9437_9439del (p.Ser3146del)
c.9368_9370del (p.Ser3123del)
c.7772_7774del (p.Ser2591del)
n.9908_9910del
 dbSNP gnomAD v3 gnomAD v4
6g.51747983A>CCA450613654PKHD1c.9633T>G (p.Ser3211=)
c.9504T>G (p.Ser3168=)
c.9495T>G (p.Ser3165=)
c.8991T>G (p.Ser2997=)
c.8922T>G (p.Ser2974=)
c.3708T>G (p.Ser1236=)
c.9558T>G (p.Ser3186=)
c.9438T>G (p.Ser3146=)
c.9369T>G (p.Ser3123=)
c.7773T>G (p.Ser2591=)
n.9909T>G
6g.51747983A>GCA450613655PKHD1c.9633T>C (p.Ser3211=)
c.9504T>C (p.Ser3168=)
c.9495T>C (p.Ser3165=)
c.8991T>C (p.Ser2997=)
c.8922T>C (p.Ser2974=)
c.3708T>C (p.Ser1236=)
c.9558T>C (p.Ser3186=)
c.9438T>C (p.Ser3146=)
c.9369T>C (p.Ser3123=)
c.7773T>C (p.Ser2591=)
n.9909T>C
 ClinVar dbSNP
6g.51747983A>TCA450613656PKHD1c.9633T>A (p.Ser3211=)
c.9504T>A (p.Ser3168=)
c.9495T>A (p.Ser3165=)
c.8991T>A (p.Ser2997=)
c.8922T>A (p.Ser2974=)
c.3708T>A (p.Ser1236=)
c.9558T>A (p.Ser3186=)
c.9438T>A (p.Ser3146=)
c.9369T>A (p.Ser3123=)
c.7773T>A (p.Ser2591=)
n.9909T>A
6g.51747984G>ACA364420654PKHD1c.9632C>T (p.Ser3211Phe)
c.9503C>T (p.Ser3168Phe)
c.9494C>T (p.Ser3165Phe)
c.8990C>T (p.Ser2997Phe)
c.8921C>T (p.Ser2974Phe)
c.3707C>T (p.Ser1236Phe)
c.9557C>T (p.Ser3186Phe)
c.9437C>T (p.Ser3146Phe)
c.9368C>T (p.Ser3123Phe)
c.7772C>T (p.Ser2591Phe)
n.9908C>T
6g.51747984G>CCA364420655PKHD1c.9632C>G (p.Ser3211Cys)
c.9503C>G (p.Ser3168Cys)
c.9494C>G (p.Ser3165Cys)
c.8990C>G (p.Ser2997Cys)
c.8921C>G (p.Ser2974Cys)
c.3707C>G (p.Ser1236Cys)
c.9557C>G (p.Ser3186Cys)
c.9437C>G (p.Ser3146Cys)
c.9368C>G (p.Ser3123Cys)
c.7772C>G (p.Ser2591Cys)
n.9908C>G
6g.51747984G>TCA364420656PKHD1c.9632C>A (p.Ser3211Tyr)
c.9503C>A (p.Ser3168Tyr)
c.9494C>A (p.Ser3165Tyr)
c.8990C>A (p.Ser2997Tyr)
c.8921C>A (p.Ser2974Tyr)
c.3707C>A (p.Ser1236Tyr)
c.9557C>A (p.Ser3186Tyr)
c.9437C>A (p.Ser3146Tyr)
c.9368C>A (p.Ser3123Tyr)
c.7772C>A (p.Ser2591Tyr)
n.9908C>A
6g.51747985A>CCA364420657PKHD1c.9631T>G (p.Ser3211Ala)
c.9502T>G (p.Ser3168Ala)
c.9493T>G (p.Ser3165Ala)
c.8989T>G (p.Ser2997Ala)
c.8920T>G (p.Ser2974Ala)
c.3706T>G (p.Ser1236Ala)
c.9556T>G (p.Ser3186Ala)
c.9436T>G (p.Ser3146Ala)
c.9367T>G (p.Ser3123Ala)
c.7771T>G (p.Ser2591Ala)
n.9907T>G
6g.51747985A>GCA364420658PKHD1c.9631T>C (p.Ser3211Pro)
c.9502T>C (p.Ser3168Pro)
c.9493T>C (p.Ser3165Pro)
c.8989T>C (p.Ser2997Pro)
c.8920T>C (p.Ser2974Pro)
c.3706T>C (p.Ser1236Pro)
c.9556T>C (p.Ser3186Pro)
c.9436T>C (p.Ser3146Pro)
c.9367T>C (p.Ser3123Pro)
c.7771T>C (p.Ser2591Pro)
n.9907T>C
6g.51747985A>TCA364420659PKHD1c.9631T>A (p.Ser3211Thr)
c.9502T>A (p.Ser3168Thr)
c.9493T>A (p.Ser3165Thr)
c.8989T>A (p.Ser2997Thr)
c.8920T>A (p.Ser2974Thr)
c.3706T>A (p.Ser1236Thr)
c.9556T>A (p.Ser3186Thr)
c.9436T>A (p.Ser3146Thr)
c.9367T>A (p.Ser3123Thr)
c.7771T>A (p.Ser2591Thr)
n.9907T>A
6g.51747986A>CCA450613657PKHD1c.9630T>G (p.Ser3210=)
c.9501T>G (p.Ser3167=)
c.9492T>G (p.Ser3164=)
c.8988T>G (p.Ser2996=)
c.8919T>G (p.Ser2973=)
c.3705T>G (p.Ser1235=)
c.9555T>G (p.Ser3185=)
c.9435T>G (p.Ser3145=)
c.9366T>G (p.Ser3122=)
c.7770T>G (p.Ser2590=)
n.9906T>G
 gnomAD v4
6g.51747986A>GCA450613658PKHD1c.9630T>C (p.Ser3210=)
c.9501T>C (p.Ser3167=)
c.9492T>C (p.Ser3164=)
c.8988T>C (p.Ser2996=)
c.8919T>C (p.Ser2973=)
c.3705T>C (p.Ser1235=)
c.9555T>C (p.Ser3185=)
c.9435T>C (p.Ser3145=)
c.9366T>C (p.Ser3122=)
c.7770T>C (p.Ser2590=)
n.9906T>C
 gnomAD v4
6g.51747986A>TCA450613659PKHD1c.9630T>A (p.Ser3210=)
c.9501T>A (p.Ser3167=)
c.9492T>A (p.Ser3164=)
c.8988T>A (p.Ser2996=)
c.8919T>A (p.Ser2973=)
c.3705T>A (p.Ser1235=)
c.9555T>A (p.Ser3185=)
c.9435T>A (p.Ser3145=)
c.9366T>A (p.Ser3122=)
c.7770T>A (p.Ser2590=)
n.9906T>A
6g.51747987G>ACA364420660PKHD1c.9629C>T (p.Ser3210Phe)
c.9500C>T (p.Ser3167Phe)
c.9491C>T (p.Ser3164Phe)
c.8987C>T (p.Ser2996Phe)
c.8918C>T (p.Ser2973Phe)
c.3704C>T (p.Ser1235Phe)
c.9554C>T (p.Ser3185Phe)
c.9434C>T (p.Ser3145Phe)
c.9365C>T (p.Ser3122Phe)
c.7769C>T (p.Ser2590Phe)
n.9905C>T
 COSMIC COSMIC
6g.51747987G>CCA3851361PKHD1c.9629C>G (p.Ser3210Cys)
c.9500C>G (p.Ser3167Cys)
c.9491C>G (p.Ser3164Cys)
c.8987C>G (p.Ser2996Cys)
c.8918C>G (p.Ser2973Cys)
c.3704C>G (p.Ser1235Cys)
c.9554C>G (p.Ser3185Cys)
c.9434C>G (p.Ser3145Cys)
c.9365C>G (p.Ser3122Cys)
c.7769C>G (p.Ser2590Cys)
n.9905C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51747987G=CA1628502250PKHD1c.9629C= (p.Ser3210=)
c.9500C= (p.Ser3167=)
c.9491C= (p.Ser3164=)
c.8987C= (p.Ser2996=)
c.8918C= (p.Ser2973=)
c.3704C= (p.Ser1235=)
c.9554C= (p.Ser3185=)
c.9434C= (p.Ser3145=)
c.9365C= (p.Ser3122=)
c.7769C= (p.Ser2590=)
n.9905C=
6g.51747987G>TCA3851362PKHD1c.9629C>A (p.Ser3210Tyr)
c.9500C>A (p.Ser3167Tyr)
c.9491C>A (p.Ser3164Tyr)
c.8987C>A (p.Ser2996Tyr)
c.8918C>A (p.Ser2973Tyr)
c.3704C>A (p.Ser1235Tyr)
c.9554C>A (p.Ser3185Tyr)
c.9434C>A (p.Ser3145Tyr)
c.9365C>A (p.Ser3122Tyr)
c.7769C>A (p.Ser2590Tyr)
n.9905C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51747988A=CA1628502255PKHD1c.9628T= (p.Ser3210=)
c.9499T= (p.Ser3167=)
c.9490T= (p.Ser3164=)
c.8986T= (p.Ser2996=)
c.8917T= (p.Ser2973=)
c.3703T= (p.Ser1235=)
c.9553T= (p.Ser3185=)
c.9433T= (p.Ser3145=)
c.9364T= (p.Ser3122=)
c.7768T= (p.Ser2590=)
n.9904T=
6g.51747988A>CCA364420661PKHD1c.9628T>G (p.Ser3210Ala)
c.9499T>G (p.Ser3167Ala)
c.9490T>G (p.Ser3164Ala)
c.8986T>G (p.Ser2996Ala)
c.8917T>G (p.Ser2973Ala)
c.3703T>G (p.Ser1235Ala)
c.9553T>G (p.Ser3185Ala)
c.9433T>G (p.Ser3145Ala)
c.9364T>G (p.Ser3122Ala)
c.7768T>G (p.Ser2590Ala)
n.9904T>G
 dbSNP
6g.51747988A>GCA364420662PKHD1c.9628T>C (p.Ser3210Pro)
c.9499T>C (p.Ser3167Pro)
c.9490T>C (p.Ser3164Pro)
c.8986T>C (p.Ser2996Pro)
c.8917T>C (p.Ser2973Pro)
c.3703T>C (p.Ser1235Pro)
c.9553T>C (p.Ser3185Pro)
c.9433T>C (p.Ser3145Pro)
c.9364T>C (p.Ser3122Pro)
c.7768T>C (p.Ser2590Pro)
n.9904T>C
6g.51747988A>TCA364420663PKHD1c.9628T>A (p.Ser3210Thr)
c.9499T>A (p.Ser3167Thr)
c.9490T>A (p.Ser3164Thr)
c.8986T>A (p.Ser2996Thr)
c.8917T>A (p.Ser2973Thr)
c.3703T>A (p.Ser1235Thr)
c.9553T>A (p.Ser3185Thr)
c.9433T>A (p.Ser3145Thr)
c.9364T>A (p.Ser3122Thr)
c.7768T>A (p.Ser2590Thr)
n.9904T>A
 gnomAD v4
6g.51747989G>ACA450613661PKHD1c.9627C>T (p.Ser3209=)
c.9498C>T (p.Ser3166=)
c.9489C>T (p.Ser3163=)
c.8985C>T (p.Ser2995=)
c.8916C>T (p.Ser2972=)
c.3702C>T (p.Ser1234=)
c.9552C>T (p.Ser3184=)
c.9432C>T (p.Ser3144=)
c.9363C>T (p.Ser3121=)
c.7767C>T (p.Ser2589=)
n.9903C>T
6g.51747989G>CCA364420664PKHD1c.9627C>G (p.Ser3209Arg)
c.9498C>G (p.Ser3166Arg)
c.9489C>G (p.Ser3163Arg)
c.8985C>G (p.Ser2995Arg)
c.8916C>G (p.Ser2972Arg)
c.3702C>G (p.Ser1234Arg)
c.9552C>G (p.Ser3184Arg)
c.9432C>G (p.Ser3144Arg)
c.9363C>G (p.Ser3121Arg)
c.7767C>G (p.Ser2589Arg)
n.9903C>G
 ClinVar gnomAD v4
6g.51747989G>TCA364420665PKHD1c.9627C>A (p.Ser3209Arg)
c.9498C>A (p.Ser3166Arg)
c.9489C>A (p.Ser3163Arg)
c.8985C>A (p.Ser2995Arg)
c.8916C>A (p.Ser2972Arg)
c.3702C>A (p.Ser1234Arg)
c.9552C>A (p.Ser3184Arg)
c.9432C>A (p.Ser3144Arg)
c.9363C>A (p.Ser3121Arg)
c.7767C>A (p.Ser2589Arg)
n.9903C>A
6g.51747990C>ACA364420668PKHD1c.9626G>T (p.Ser3209Ile)
c.9497G>T (p.Ser3166Ile)
c.9488G>T (p.Ser3163Ile)
c.8984G>T (p.Ser2995Ile)
c.8915G>T (p.Ser2972Ile)
c.3701G>T (p.Ser1234Ile)
c.9551G>T (p.Ser3184Ile)
c.9431G>T (p.Ser3144Ile)
c.9362G>T (p.Ser3121Ile)
c.7766G>T (p.Ser2589Ile)
n.9902G>T
6g.51747990C>GCA364420667PKHD1c.9626G>C (p.Ser3209Thr)
c.9497G>C (p.Ser3166Thr)
c.9488G>C (p.Ser3163Thr)
c.8984G>C (p.Ser2995Thr)
c.8915G>C (p.Ser2972Thr)
c.3701G>C (p.Ser1234Thr)
c.9551G>C (p.Ser3184Thr)
c.9431G>C (p.Ser3144Thr)
c.9362G>C (p.Ser3121Thr)
c.7766G>C (p.Ser2589Thr)
n.9902G>C
6g.51747990C>TCA364420666PKHD1c.9626G>A (p.Ser3209Asn)
c.9497G>A (p.Ser3166Asn)
c.9488G>A (p.Ser3163Asn)
c.8984G>A (p.Ser2995Asn)
c.8915G>A (p.Ser2972Asn)
c.3701G>A (p.Ser1234Asn)
c.9551G>A (p.Ser3184Asn)
c.9431G>A (p.Ser3144Asn)
c.9362G>A (p.Ser3121Asn)
c.7766G>A (p.Ser2589Asn)
n.9902G>A
6g.51747991T>ACA364420669PKHD1c.9625A>T (p.Ser3209Cys)
c.9496A>T (p.Ser3166Cys)
c.9487A>T (p.Ser3163Cys)
c.8983A>T (p.Ser2995Cys)
c.8914A>T (p.Ser2972Cys)
c.3700A>T (p.Ser1234Cys)
c.9550A>T (p.Ser3184Cys)
c.9430A>T (p.Ser3144Cys)
c.9361A>T (p.Ser3121Cys)
c.7765A>T (p.Ser2589Cys)
n.9901A>T
6g.51747991T>CCA364420671PKHD1c.9625A>G (p.Ser3209Gly)
c.9496A>G (p.Ser3166Gly)
c.9487A>G (p.Ser3163Gly)
c.8983A>G (p.Ser2995Gly)
c.8914A>G (p.Ser2972Gly)
c.3700A>G (p.Ser1234Gly)
c.9550A>G (p.Ser3184Gly)
c.9430A>G (p.Ser3144Gly)
c.9361A>G (p.Ser3121Gly)
c.7765A>G (p.Ser2589Gly)
n.9901A>G
6g.51747991T>GCA364420670PKHD1c.9625A>C (p.Ser3209Arg)
c.9496A>C (p.Ser3166Arg)
c.9487A>C (p.Ser3163Arg)
c.8983A>C (p.Ser2995Arg)
c.8914A>C (p.Ser2972Arg)
c.3700A>C (p.Ser1234Arg)
c.9550A>C (p.Ser3184Arg)
c.9430A>C (p.Ser3144Arg)
c.9361A>C (p.Ser3121Arg)
c.7765A>C (p.Ser2589Arg)
n.9901A>C
 ClinVar dbSNP
6g.51747991T=CA1628502258PKHD1c.9625A= (p.Ser3209=)
c.9496A= (p.Ser3166=)
c.9487A= (p.Ser3163=)
c.8983A= (p.Ser2995=)
c.8914A= (p.Ser2972=)
c.3700A= (p.Ser1234=)
c.9550A= (p.Ser3184=)
c.9430A= (p.Ser3144=)
c.9361A= (p.Ser3121=)
c.7765A= (p.Ser2589=)
n.9901A=
6g.51747992G>ACA450613662PKHD1c.9624C>T (p.Thr3208=)
c.9495C>T (p.Thr3165=)
c.9486C>T (p.Thr3162=)
c.8982C>T (p.Thr2994=)
c.8913C>T (p.Thr2971=)
c.3699C>T (p.Thr1233=)
c.9549C>T (p.Thr3183=)
c.9429C>T (p.Thr3143=)
c.9360C>T (p.Thr3120=)
c.7764C>T (p.Thr2588=)
n.9900C>T
6g.51747992G>CCA450613663PKHD1c.9624C>G (p.Thr3208=)
c.9495C>G (p.Thr3165=)
c.9486C>G (p.Thr3162=)
c.8982C>G (p.Thr2994=)
c.8913C>G (p.Thr2971=)
c.3699C>G (p.Thr1233=)
c.9549C>G (p.Thr3183=)
c.9429C>G (p.Thr3143=)
c.9360C>G (p.Thr3120=)
c.7764C>G (p.Thr2588=)
n.9900C>G
6g.51747992G>TCA450613664PKHD1c.9624C>A (p.Thr3208=)
c.9495C>A (p.Thr3165=)
c.9486C>A (p.Thr3162=)
c.8982C>A (p.Thr2994=)
c.8913C>A (p.Thr2971=)
c.3699C>A (p.Thr1233=)
c.9549C>A (p.Thr3183=)
c.9429C>A (p.Thr3143=)
c.9360C>A (p.Thr3120=)
c.7764C>A (p.Thr2588=)
n.9900C>A
 gnomAD v4
6g.51747993G>ACA364420672PKHD1c.9623C>T (p.Thr3208Ile)
c.9494C>T (p.Thr3165Ile)
c.9485C>T (p.Thr3162Ile)
c.8981C>T (p.Thr2994Ile)
c.8912C>T (p.Thr2971Ile)
c.3698C>T (p.Thr1233Ile)
c.9548C>T (p.Thr3183Ile)
c.9428C>T (p.Thr3143Ile)
c.9359C>T (p.Thr3120Ile)
c.7763C>T (p.Thr2588Ile)
n.9899C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51747993G>CCA364420673PKHD1c.9623C>G (p.Thr3208Ser)
c.9494C>G (p.Thr3165Ser)
c.9485C>G (p.Thr3162Ser)
c.8981C>G (p.Thr2994Ser)
c.8912C>G (p.Thr2971Ser)
c.3698C>G (p.Thr1233Ser)
c.9548C>G (p.Thr3183Ser)
c.9428C>G (p.Thr3143Ser)
c.9359C>G (p.Thr3120Ser)
c.7763C>G (p.Thr2588Ser)
n.9899C>G
6g.51747993G=CA1628502264PKHD1c.9623C= (p.Thr3208=)
c.9494C= (p.Thr3165=)
c.9485C= (p.Thr3162=)
c.8981C= (p.Thr2994=)
c.8912C= (p.Thr2971=)
c.3698C= (p.Thr1233=)
c.9548C= (p.Thr3183=)
c.9428C= (p.Thr3143=)
c.9359C= (p.Thr3120=)
c.7763C= (p.Thr2588=)
n.9899C=
6g.51747993G>TCA364420674PKHD1c.9623C>A (p.Thr3208Asn)
c.9494C>A (p.Thr3165Asn)
c.9485C>A (p.Thr3162Asn)
c.8981C>A (p.Thr2994Asn)
c.8912C>A (p.Thr2971Asn)
c.3698C>A (p.Thr1233Asn)
c.9548C>A (p.Thr3183Asn)
c.9428C>A (p.Thr3143Asn)
c.9359C>A (p.Thr3120Asn)
c.7763C>A (p.Thr2588Asn)
n.9899C>A
6g.51747994T>ACA364420675PKHD1c.9622A>T (p.Thr3208Ser)
c.9493A>T (p.Thr3165Ser)
c.9484A>T (p.Thr3162Ser)
c.8980A>T (p.Thr2994Ser)
c.8911A>T (p.Thr2971Ser)
c.3697A>T (p.Thr1233Ser)
c.9547A>T (p.Thr3183Ser)
c.9427A>T (p.Thr3143Ser)
c.9358A>T (p.Thr3120Ser)
c.7762A>T (p.Thr2588Ser)
n.9898A>T
6g.51747994T>CCA364420676PKHD1c.9622A>G (p.Thr3208Ala)
c.9493A>G (p.Thr3165Ala)
c.9484A>G (p.Thr3162Ala)
c.8980A>G (p.Thr2994Ala)
c.8911A>G (p.Thr2971Ala)
c.3697A>G (p.Thr1233Ala)
c.9547A>G (p.Thr3183Ala)
c.9427A>G (p.Thr3143Ala)
c.9358A>G (p.Thr3120Ala)
c.7762A>G (p.Thr2588Ala)
n.9898A>G
6g.51747994T>GCA364420677PKHD1c.9622A>C (p.Thr3208Pro)
c.9493A>C (p.Thr3165Pro)
c.9484A>C (p.Thr3162Pro)
c.8980A>C (p.Thr2994Pro)
c.8911A>C (p.Thr2971Pro)
c.3697A>C (p.Thr1233Pro)
c.9547A>C (p.Thr3183Pro)
c.9427A>C (p.Thr3143Pro)
c.9358A>C (p.Thr3120Pro)
c.7762A>C (p.Thr2588Pro)
n.9898A>C
6g.51747995G>ACA450613668PKHD1c.9621C>T (p.Ala3207=)
c.9492C>T (p.Ala3164=)
c.9483C>T (p.Ala3161=)
c.8979C>T (p.Ala2993=)
c.8910C>T (p.Ala2970=)
c.3696C>T (p.Ala1232=)
c.9546C>T (p.Ala3182=)
c.9426C>T (p.Ala3142=)
c.9357C>T (p.Ala3119=)
c.7761C>T (p.Ala2587=)
n.9897C>T
 ClinVar dbSNP
6g.51747995G>CCA450613669PKHD1c.9621C>G (p.Ala3207=)
c.9492C>G (p.Ala3164=)
c.9483C>G (p.Ala3161=)
c.8979C>G (p.Ala2993=)
c.8910C>G (p.Ala2970=)
c.3696C>G (p.Ala1232=)
c.9546C>G (p.Ala3182=)
c.9426C>G (p.Ala3142=)
c.9357C>G (p.Ala3119=)
c.7761C>G (p.Ala2587=)
n.9897C>G
6g.51747995G=CA1628502269PKHD1c.9621C= (p.Ala3207=)
c.9492C= (p.Ala3164=)
c.9483C= (p.Ala3161=)
c.8979C= (p.Ala2993=)
c.8910C= (p.Ala2970=)
c.3696C= (p.Ala1232=)
c.9546C= (p.Ala3182=)
c.9426C= (p.Ala3142=)
c.9357C= (p.Ala3119=)
c.7761C= (p.Ala2587=)
n.9897C=
6g.51747995G>TCA450613670PKHD1c.9621C>A (p.Ala3207=)
c.9492C>A (p.Ala3164=)
c.9483C>A (p.Ala3161=)
c.8979C>A (p.Ala2993=)
c.8910C>A (p.Ala2970=)
c.3696C>A (p.Ala1232=)
c.9546C>A (p.Ala3182=)
c.9426C>A (p.Ala3142=)
c.9357C>A (p.Ala3119=)
c.7761C>A (p.Ala2587=)
n.9897C>A
6g.51747996G>ACA364420678PKHD1c.9620C>T (p.Ala3207Val)
c.9491C>T (p.Ala3164Val)
c.9482C>T (p.Ala3161Val)
c.8978C>T (p.Ala2993Val)
c.8909C>T (p.Ala2970Val)
c.3695C>T (p.Ala1232Val)
c.9545C>T (p.Ala3182Val)
c.9425C>T (p.Ala3142Val)
c.9356C>T (p.Ala3119Val)
c.7760C>T (p.Ala2587Val)
n.9896C>T
6g.51747996G>CCA364420679PKHD1c.9620C>G (p.Ala3207Gly)
c.9491C>G (p.Ala3164Gly)
c.9482C>G (p.Ala3161Gly)
c.8978C>G (p.Ala2993Gly)
c.8909C>G (p.Ala2970Gly)
c.3695C>G (p.Ala1232Gly)
c.9545C>G (p.Ala3182Gly)
c.9425C>G (p.Ala3142Gly)
c.9356C>G (p.Ala3119Gly)
c.7760C>G (p.Ala2587Gly)
n.9896C>G
6g.51747996G>TCA364420680PKHD1c.9620C>A (p.Ala3207Asp)
c.9491C>A (p.Ala3164Asp)
c.9482C>A (p.Ala3161Asp)
c.8978C>A (p.Ala2993Asp)
c.8909C>A (p.Ala2970Asp)
c.3695C>A (p.Ala1232Asp)
c.9545C>A (p.Ala3182Asp)
c.9425C>A (p.Ala3142Asp)
c.9356C>A (p.Ala3119Asp)
c.7760C>A (p.Ala2587Asp)
n.9896C>A
6g.51747997C>ACA364420681PKHD1c.9619G>T (p.Ala3207Ser)
c.9490G>T (p.Ala3164Ser)
c.9481G>T (p.Ala3161Ser)
c.8977G>T (p.Ala2993Ser)
c.8908G>T (p.Ala2970Ser)
c.3694G>T (p.Ala1232Ser)
c.9544G>T (p.Ala3182Ser)
c.9424G>T (p.Ala3142Ser)
c.9355G>T (p.Ala3119Ser)
c.7759G>T (p.Ala2587Ser)
n.9895G>T
 gnomAD v4
6g.51747997C=CA1628502276PKHD1c.9619G= (p.Ala3207=)
c.9490G= (p.Ala3164=)
c.9481G= (p.Ala3161=)
c.8977G= (p.Ala2993=)
c.8908G= (p.Ala2970=)
c.3694G= (p.Ala1232=)
c.9544G= (p.Ala3182=)
c.9424G= (p.Ala3142=)
c.9355G= (p.Ala3119=)
c.7759G= (p.Ala2587=)
n.9895G=
6g.51747997C>GCA364420682PKHD1c.9619G>C (p.Ala3207Pro)
c.9490G>C (p.Ala3164Pro)
c.9481G>C (p.Ala3161Pro)
c.8977G>C (p.Ala2993Pro)
c.8908G>C (p.Ala2970Pro)
c.3694G>C (p.Ala1232Pro)
c.9544G>C (p.Ala3182Pro)
c.9424G>C (p.Ala3142Pro)
c.9355G>C (p.Ala3119Pro)
c.7759G>C (p.Ala2587Pro)
n.9895G>C
6g.51747997C>TCA364420683PKHD1c.9619G>A (p.Ala3207Thr)
c.9490G>A (p.Ala3164Thr)
c.9481G>A (p.Ala3161Thr)
c.8977G>A (p.Ala2993Thr)
c.8908G>A (p.Ala2970Thr)
c.3694G>A (p.Ala1232Thr)
c.9544G>A (p.Ala3182Thr)
c.9424G>A (p.Ala3142Thr)
c.9355G>A (p.Ala3119Thr)
c.7759G>A (p.Ala2587Thr)
n.9895G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51747998C>ACA138896000PKHD1c.9618G>T (p.Val3206=)
c.9489G>T (p.Val3163=)
c.9480G>T (p.Val3160=)
c.8976G>T (p.Val2992=)
c.8907G>T (p.Val2969=)
c.3693G>T (p.Val1231=)
c.9543G>T (p.Val3181=)
c.9423G>T (p.Val3141=)
c.9354G>T (p.Val3118=)
c.7758G>T (p.Val2586=)
n.9894G>T
 dbSNP
6g.51747998C=CA1628502279PKHD1c.9618G= (p.Val3206=)
c.9489G= (p.Val3163=)
c.9480G= (p.Val3160=)
c.8976G= (p.Val2992=)
c.8907G= (p.Val2969=)
c.3693G= (p.Val1231=)
c.9543G= (p.Val3181=)
c.9423G= (p.Val3141=)
c.9354G= (p.Val3118=)
c.7758G= (p.Val2586=)
n.9894G=
6g.51747998C>GCA450613673PKHD1c.9618G>C (p.Val3206=)
c.9489G>C (p.Val3163=)
c.9480G>C (p.Val3160=)
c.8976G>C (p.Val2992=)
c.8907G>C (p.Val2969=)
c.3693G>C (p.Val1231=)
c.9543G>C (p.Val3181=)
c.9423G>C (p.Val3141=)
c.9354G>C (p.Val3118=)
c.7758G>C (p.Val2586=)
n.9894G>C
6g.51747998C>TCA450613674PKHD1c.9618G>A (p.Val3206=)
c.9489G>A (p.Val3163=)
c.9480G>A (p.Val3160=)
c.8976G>A (p.Val2992=)
c.8907G>A (p.Val2969=)
c.3693G>A (p.Val1231=)
c.9543G>A (p.Val3181=)
c.9423G>A (p.Val3141=)
c.9354G>A (p.Val3118=)
c.7758G>A (p.Val2586=)
n.9894G>A
6g.51747999A>CCA364420684PKHD1c.9617T>G (p.Val3206Gly)
c.9488T>G (p.Val3163Gly)
c.9479T>G (p.Val3160Gly)
c.8975T>G (p.Val2992Gly)
c.8906T>G (p.Val2969Gly)
c.3692T>G (p.Val1231Gly)
c.9542T>G (p.Val3181Gly)
c.9422T>G (p.Val3141Gly)
c.9353T>G (p.Val3118Gly)
c.7757T>G (p.Val2586Gly)
n.9893T>G
6g.51747999A>GCA364420685PKHD1c.9617T>C (p.Val3206Ala)
c.9488T>C (p.Val3163Ala)
c.9479T>C (p.Val3160Ala)
c.8975T>C (p.Val2992Ala)
c.8906T>C (p.Val2969Ala)
c.3692T>C (p.Val1231Ala)
c.9542T>C (p.Val3181Ala)
c.9422T>C (p.Val3141Ala)
c.9353T>C (p.Val3118Ala)
c.7757T>C (p.Val2586Ala)
n.9893T>C
6g.51747999A>TCA364420686PKHD1c.9617T>A (p.Val3206Glu)
c.9488T>A (p.Val3163Glu)
c.9479T>A (p.Val3160Glu)
c.8975T>A (p.Val2992Glu)
c.8906T>A (p.Val2969Glu)
c.3692T>A (p.Val1231Glu)
c.9542T>A (p.Val3181Glu)
c.9422T>A (p.Val3141Glu)
c.9353T>A (p.Val3118Glu)
c.7757T>A (p.Val2586Glu)
n.9893T>A
6g.51748000C>ACA3851363PKHD1c.9616G>T (p.Val3206Leu)
c.9487G>T (p.Val3163Leu)
c.9478G>T (p.Val3160Leu)
c.8974G>T (p.Val2992Leu)
c.8905G>T (p.Val2969Leu)
c.3691G>T (p.Val1231Leu)
c.9541G>T (p.Val3181Leu)
c.9421G>T (p.Val3141Leu)
c.9352G>T (p.Val3118Leu)
c.7756G>T (p.Val2586Leu)
n.9892G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748000C=CA1628502284PKHD1c.9616G= (p.Val3206=)
c.9487G= (p.Val3163=)
c.9478G= (p.Val3160=)
c.8974G= (p.Val2992=)
c.8905G= (p.Val2969=)
c.3691G= (p.Val1231=)
c.9541G= (p.Val3181=)
c.9421G= (p.Val3141=)
c.9352G= (p.Val3118=)
c.7756G= (p.Val2586=)
n.9892G=
6g.51748000C>GCA364420687PKHD1c.9616G>C (p.Val3206Leu)
c.9487G>C (p.Val3163Leu)
c.9478G>C (p.Val3160Leu)
c.8974G>C (p.Val2992Leu)
c.8905G>C (p.Val2969Leu)
c.3691G>C (p.Val1231Leu)
c.9541G>C (p.Val3181Leu)
c.9421G>C (p.Val3141Leu)
c.9352G>C (p.Val3118Leu)
c.7756G>C (p.Val2586Leu)
n.9892G>C
6g.51748000C>TCA364420688PKHD1c.9616G>A (p.Val3206Met)
c.9487G>A (p.Val3163Met)
c.9478G>A (p.Val3160Met)
c.8974G>A (p.Val2992Met)
c.8905G>A (p.Val2969Met)
c.3691G>A (p.Val1231Met)
c.9541G>A (p.Val3181Met)
c.9421G>A (p.Val3141Met)
c.9352G>A (p.Val3118Met)
c.7756G>A (p.Val2586Met)
n.9892G>A
6g.51748001A>CCA364420689PKHD1c.9615T>G (p.Ile3205Met)
c.9486T>G (p.Ile3162Met)
c.9477T>G (p.Ile3159Met)
c.8973T>G (p.Ile2991Met)
c.8904T>G (p.Ile2968Met)
c.3690T>G (p.Ile1230Met)
c.9540T>G (p.Ile3180Met)
c.9420T>G (p.Ile3140Met)
c.9351T>G (p.Ile3117Met)
c.7755T>G (p.Ile2585Met)
n.9891T>G
6g.51748001A>GCA450613678PKHD1c.9615T>C (p.Ile3205=)
c.9486T>C (p.Ile3162=)
c.9477T>C (p.Ile3159=)
c.8973T>C (p.Ile2991=)
c.8904T>C (p.Ile2968=)
c.3690T>C (p.Ile1230=)
c.9540T>C (p.Ile3180=)
c.9420T>C (p.Ile3140=)
c.9351T>C (p.Ile3117=)
c.7755T>C (p.Ile2585=)
n.9891T>C
6g.51748001A>TCA450613679PKHD1c.9615T>A (p.Ile3205=)
c.9486T>A (p.Ile3162=)
c.9477T>A (p.Ile3159=)
c.8973T>A (p.Ile2991=)
c.8904T>A (p.Ile2968=)
c.3690T>A (p.Ile1230=)
c.9540T>A (p.Ile3180=)
c.9420T>A (p.Ile3140=)
c.9351T>A (p.Ile3117=)
c.7755T>A (p.Ile2585=)
n.9891T>A
6g.51748002delCA2580075426PKHD1c.9615del (p.Ile3205MetfsTer15)
c.9486del (p.Ile3162MetfsTer15)
c.9477del (p.Ile3159MetfsTer15)
c.8973del (p.Ile2991MetfsTer15)
c.8904del (p.Ile2968MetfsTer15)
c.3690del (p.Ile1230MetfsTer15)
c.9540del (p.Ile3180MetfsTer15)
c.9420del (p.Ile3140MetfsTer15)
c.9351del (p.Ile3117MetfsTer15)
c.7755del (p.Ile2585MetfsTer15)
n.9891del
 ClinVar
6g.51748002A=CA1628502289PKHD1c.9614T= (p.Ile3205=)
c.9485T= (p.Ile3162=)
c.9476T= (p.Ile3159=)
c.8972T= (p.Ile2991=)
c.8903T= (p.Ile2968=)
c.3689T= (p.Ile1230=)
c.9539T= (p.Ile3180=)
c.9419T= (p.Ile3140=)
c.9350T= (p.Ile3117=)
c.7754T= (p.Ile2585=)
n.9890T=
6g.51748002A>CCA3851364PKHD1c.9614T>G (p.Ile3205Ser)
c.9485T>G (p.Ile3162Ser)
c.9476T>G (p.Ile3159Ser)
c.8972T>G (p.Ile2991Ser)
c.8903T>G (p.Ile2968Ser)
c.3689T>G (p.Ile1230Ser)
c.9539T>G (p.Ile3180Ser)
c.9419T>G (p.Ile3140Ser)
c.9350T>G (p.Ile3117Ser)
c.7754T>G (p.Ile2585Ser)
n.9890T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748002A>GCA364420690PKHD1c.9614T>C (p.Ile3205Thr)
c.9485T>C (p.Ile3162Thr)
c.9476T>C (p.Ile3159Thr)
c.8972T>C (p.Ile2991Thr)
c.8903T>C (p.Ile2968Thr)
c.3689T>C (p.Ile1230Thr)
c.9539T>C (p.Ile3180Thr)
c.9419T>C (p.Ile3140Thr)
c.9350T>C (p.Ile3117Thr)
c.7754T>C (p.Ile2585Thr)
n.9890T>C
 ClinVar
6g.51748002A>TCA364420691PKHD1c.9614T>A (p.Ile3205Asn)
c.9485T>A (p.Ile3162Asn)
c.9476T>A (p.Ile3159Asn)
c.8972T>A (p.Ile2991Asn)
c.8903T>A (p.Ile2968Asn)
c.3689T>A (p.Ile1230Asn)
c.9539T>A (p.Ile3180Asn)
c.9419T>A (p.Ile3140Asn)
c.9350T>A (p.Ile3117Asn)
c.7754T>A (p.Ile2585Asn)
n.9890T>A
6g.51748003T>ACA364420692PKHD1c.9613A>T (p.Ile3205Phe)
c.9484A>T (p.Ile3162Phe)
c.9475A>T (p.Ile3159Phe)
c.8971A>T (p.Ile2991Phe)
c.8902A>T (p.Ile2968Phe)
c.3688A>T (p.Ile1230Phe)
c.9538A>T (p.Ile3180Phe)
c.9418A>T (p.Ile3140Phe)
c.9349A>T (p.Ile3117Phe)
c.7753A>T (p.Ile2585Phe)
n.9889A>T
 dbSNP
6g.51748003T>CCA3851365PKHD1c.9613A>G (p.Ile3205Val)
c.9484A>G (p.Ile3162Val)
c.9475A>G (p.Ile3159Val)
c.8971A>G (p.Ile2991Val)
c.8902A>G (p.Ile2968Val)
c.3688A>G (p.Ile1230Val)
c.9538A>G (p.Ile3180Val)
c.9418A>G (p.Ile3140Val)
c.9349A>G (p.Ile3117Val)
c.7753A>G (p.Ile2585Val)
n.9889A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748003T>GCA364420693PKHD1c.9613A>C (p.Ile3205Leu)
c.9484A>C (p.Ile3162Leu)
c.9475A>C (p.Ile3159Leu)
c.8971A>C (p.Ile2991Leu)
c.8902A>C (p.Ile2968Leu)
c.3688A>C (p.Ile1230Leu)
c.9538A>C (p.Ile3180Leu)
c.9418A>C (p.Ile3140Leu)
c.9349A>C (p.Ile3117Leu)
c.7753A>C (p.Ile2585Leu)
n.9889A>C
 ClinVar gnomAD v4
6g.51748003T=CA1628502291PKHD1c.9613A= (p.Ile3205=)
c.9484A= (p.Ile3162=)
c.9475A= (p.Ile3159=)
c.8971A= (p.Ile2991=)
c.8902A= (p.Ile2968=)
c.3688A= (p.Ile1230=)
c.9538A= (p.Ile3180=)
c.9418A= (p.Ile3140=)
c.9349A= (p.Ile3117=)
c.7753A= (p.Ile2585=)
n.9889A=
6g.51748004G>ACA450613681PKHD1c.9612C>T (p.Val3204=)
c.9483C>T (p.Val3161=)
c.9474C>T (p.Val3158=)
c.8970C>T (p.Val2990=)
c.8901C>T (p.Val2967=)
c.3687C>T (p.Val1229=)
c.9537C>T (p.Val3179=)
c.9417C>T (p.Val3139=)
c.9348C>T (p.Val3116=)
c.7752C>T (p.Val2584=)
n.9888C>T
6g.51748004G>CCA450613683PKHD1c.9612C>G (p.Val3204=)
c.9483C>G (p.Val3161=)
c.9474C>G (p.Val3158=)
c.8970C>G (p.Val2990=)
c.8901C>G (p.Val2967=)
c.3687C>G (p.Val1229=)
c.9537C>G (p.Val3179=)
c.9417C>G (p.Val3139=)
c.9348C>G (p.Val3116=)
c.7752C>G (p.Val2584=)
n.9888C>G
6g.51748004G>TCA450613682PKHD1c.9612C>A (p.Val3204=)
c.9483C>A (p.Val3161=)
c.9474C>A (p.Val3158=)
c.8970C>A (p.Val2990=)
c.8901C>A (p.Val2967=)
c.3687C>A (p.Val1229=)
c.9537C>A (p.Val3179=)
c.9417C>A (p.Val3139=)
c.9348C>A (p.Val3116=)
c.7752C>A (p.Val2584=)
n.9888C>A
 gnomAD v4
6g.51748005A>CCA364420696PKHD1c.9611T>G (p.Val3204Gly)
c.9482T>G (p.Val3161Gly)
c.9473T>G (p.Val3158Gly)
c.8969T>G (p.Val2990Gly)
c.8900T>G (p.Val2967Gly)
c.3686T>G (p.Val1229Gly)
c.9536T>G (p.Val3179Gly)
c.9416T>G (p.Val3139Gly)
c.9347T>G (p.Val3116Gly)
c.7751T>G (p.Val2584Gly)
n.9887T>G
6g.51748005A>GCA364420694PKHD1c.9611T>C (p.Val3204Ala)
c.9482T>C (p.Val3161Ala)
c.9473T>C (p.Val3158Ala)
c.8969T>C (p.Val2990Ala)
c.8900T>C (p.Val2967Ala)
c.3686T>C (p.Val1229Ala)
c.9536T>C (p.Val3179Ala)
c.9416T>C (p.Val3139Ala)
c.9347T>C (p.Val3116Ala)
c.7751T>C (p.Val2584Ala)
n.9887T>C
6g.51748005A>TCA364420695PKHD1c.9611T>A (p.Val3204Asp)
c.9482T>A (p.Val3161Asp)
c.9473T>A (p.Val3158Asp)
c.8969T>A (p.Val2990Asp)
c.8900T>A (p.Val2967Asp)
c.3686T>A (p.Val1229Asp)
c.9536T>A (p.Val3179Asp)
c.9416T>A (p.Val3139Asp)
c.9347T>A (p.Val3116Asp)
c.7751T>A (p.Val2584Asp)
n.9887T>A
6g.51748006C>ACA364420697PKHD1c.9610G>T (p.Val3204Phe)
c.9481G>T (p.Val3161Phe)
c.9472G>T (p.Val3158Phe)
c.8968G>T (p.Val2990Phe)
c.8899G>T (p.Val2967Phe)
c.3685G>T (p.Val1229Phe)
c.9535G>T (p.Val3179Phe)
c.9415G>T (p.Val3139Phe)
c.9346G>T (p.Val3116Phe)
c.7750G>T (p.Val2584Phe)
n.9886G>T
6g.51748006C=CA1628502294PKHD1c.9610G= (p.Val3204=)
c.9481G= (p.Val3161=)
c.9472G= (p.Val3158=)
c.8968G= (p.Val2990=)
c.8899G= (p.Val2967=)
c.3685G= (p.Val1229=)
c.9535G= (p.Val3179=)
c.9415G= (p.Val3139=)
c.9346G= (p.Val3116=)
c.7750G= (p.Val2584=)
n.9886G=
6g.51748006C>GCA364420698PKHD1c.9610G>C (p.Val3204Leu)
c.9481G>C (p.Val3161Leu)
c.9472G>C (p.Val3158Leu)
c.8968G>C (p.Val2990Leu)
c.8899G>C (p.Val2967Leu)
c.3685G>C (p.Val1229Leu)
c.9535G>C (p.Val3179Leu)
c.9415G>C (p.Val3139Leu)
c.9346G>C (p.Val3116Leu)
c.7750G>C (p.Val2584Leu)
n.9886G>C
6g.51748006C>TCA364420699PKHD1c.9610G>A (p.Val3204Ile)
c.9481G>A (p.Val3161Ile)
c.9472G>A (p.Val3158Ile)
c.8968G>A (p.Val2990Ile)
c.8899G>A (p.Val2967Ile)
c.3685G>A (p.Val1229Ile)
c.9535G>A (p.Val3179Ile)
c.9415G>A (p.Val3139Ile)
c.9346G>A (p.Val3116Ile)
c.7750G>A (p.Val2584Ile)
n.9886G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748007T>ACA450613689PKHD1c.9609A>T (p.Ser3203=)
c.9480A>T (p.Ser3160=)
c.9471A>T (p.Ser3157=)
c.8967A>T (p.Ser2989=)
c.8898A>T (p.Ser2966=)
c.3684A>T (p.Ser1228=)
c.9534A>T (p.Ser3178=)
c.9414A>T (p.Ser3138=)
c.9345A>T (p.Ser3115=)
c.7749A>T (p.Ser2583=)
n.9885A>T
6g.51748007T>CCA450613688PKHD1c.9609A>G (p.Ser3203=)
c.9480A>G (p.Ser3160=)
c.9471A>G (p.Ser3157=)
c.8967A>G (p.Ser2989=)
c.8898A>G (p.Ser2966=)
c.3684A>G (p.Ser1228=)
c.9534A>G (p.Ser3178=)
c.9414A>G (p.Ser3138=)
c.9345A>G (p.Ser3115=)
c.7749A>G (p.Ser2583=)
n.9885A>G
6g.51748007T>GCA450613687PKHD1c.9609A>C (p.Ser3203=)
c.9480A>C (p.Ser3160=)
c.9471A>C (p.Ser3157=)
c.8967A>C (p.Ser2989=)
c.8898A>C (p.Ser2966=)
c.3684A>C (p.Ser1228=)
c.9534A>C (p.Ser3178=)
c.9414A>C (p.Ser3138=)
c.9345A>C (p.Ser3115=)
c.7749A>C (p.Ser2583=)
n.9885A>C
6g.51748008G>ACA364420700PKHD1c.9608C>T (p.Ser3203Leu)
c.9479C>T (p.Ser3160Leu)
c.9470C>T (p.Ser3157Leu)
c.8966C>T (p.Ser2989Leu)
c.8897C>T (p.Ser2966Leu)
c.3683C>T (p.Ser1228Leu)
c.9533C>T (p.Ser3178Leu)
c.9413C>T (p.Ser3138Leu)
c.9344C>T (p.Ser3115Leu)
c.7748C>T (p.Ser2583Leu)
n.9884C>T
6g.51748008G>CCA364420701PKHD1c.9608C>G (p.Ser3203Ter)
c.9479C>G (p.Ser3160Ter)
c.9470C>G (p.Ser3157Ter)
c.8966C>G (p.Ser2989Ter)
c.8897C>G (p.Ser2966Ter)
c.3683C>G (p.Ser1228Ter)
c.9533C>G (p.Ser3178Ter)
c.9413C>G (p.Ser3138Ter)
c.9344C>G (p.Ser3115Ter)
c.7748C>G (p.Ser2583Ter)
n.9884C>G
6g.51748008G>TCA364420702PKHD1c.9608C>A (p.Ser3203Ter)
c.9479C>A (p.Ser3160Ter)
c.9470C>A (p.Ser3157Ter)
c.8966C>A (p.Ser2989Ter)
c.8897C>A (p.Ser2966Ter)
c.3683C>A (p.Ser1228Ter)
c.9533C>A (p.Ser3178Ter)
c.9413C>A (p.Ser3138Ter)
c.9344C>A (p.Ser3115Ter)
c.7748C>A (p.Ser2583Ter)
n.9884C>A
6g.51748009A>CCA364420705PKHD1c.9607T>G (p.Ser3203Ala)
c.9478T>G (p.Ser3160Ala)
c.9469T>G (p.Ser3157Ala)
c.8965T>G (p.Ser2989Ala)
c.8896T>G (p.Ser2966Ala)
c.3682T>G (p.Ser1228Ala)
c.9532T>G (p.Ser3178Ala)
c.9412T>G (p.Ser3138Ala)
c.9343T>G (p.Ser3115Ala)
c.7747T>G (p.Ser2583Ala)
n.9883T>G
6g.51748009A>GCA364420703PKHD1c.9607T>C (p.Ser3203Pro)
c.9478T>C (p.Ser3160Pro)
c.9469T>C (p.Ser3157Pro)
c.8965T>C (p.Ser2989Pro)
c.8896T>C (p.Ser2966Pro)
c.3682T>C (p.Ser1228Pro)
c.9532T>C (p.Ser3178Pro)
c.9412T>C (p.Ser3138Pro)
c.9343T>C (p.Ser3115Pro)
c.7747T>C (p.Ser2583Pro)
n.9883T>C
6g.51748009A>TCA364420704PKHD1c.9607T>A (p.Ser3203Thr)
c.9478T>A (p.Ser3160Thr)
c.9469T>A (p.Ser3157Thr)
c.8965T>A (p.Ser2989Thr)
c.8896T>A (p.Ser2966Thr)
c.3682T>A (p.Ser1228Thr)
c.9532T>A (p.Ser3178Thr)
c.9412T>A (p.Ser3138Thr)
c.9343T>A (p.Ser3115Thr)
c.7747T>A (p.Ser2583Thr)
n.9883T>A
6g.51748010A=CA1628502296PKHD1c.9606T= (p.Asn3202=)
c.9477T= (p.Asn3159=)
c.9468T= (p.Asn3156=)
c.8964T= (p.Asn2988=)
c.8895T= (p.Asn2965=)
c.3681T= (p.Asn1227=)
c.9531T= (p.Asn3177=)
c.9411T= (p.Asn3137=)
c.9342T= (p.Asn3114=)
c.7746T= (p.Asn2582=)
n.9882T=
6g.51748010A>CCA364420706PKHD1c.9606T>G (p.Asn3202Lys)
c.9477T>G (p.Asn3159Lys)
c.9468T>G (p.Asn3156Lys)
c.8964T>G (p.Asn2988Lys)
c.8895T>G (p.Asn2965Lys)
c.3681T>G (p.Asn1227Lys)
c.9531T>G (p.Asn3177Lys)
c.9411T>G (p.Asn3137Lys)
c.9342T>G (p.Asn3114Lys)
c.7746T>G (p.Asn2582Lys)
n.9882T>G
6g.51748010A>GCA450613691PKHD1c.9606T>C (p.Asn3202=)
c.9477T>C (p.Asn3159=)
c.9468T>C (p.Asn3156=)
c.8964T>C (p.Asn2988=)
c.8895T>C (p.Asn2965=)
c.3681T>C (p.Asn1227=)
c.9531T>C (p.Asn3177=)
c.9411T>C (p.Asn3137=)
c.9342T>C (p.Asn3114=)
c.7746T>C (p.Asn2582=)
n.9882T>C
 dbSNP
6g.51748010A>TCA364420707PKHD1c.9606T>A (p.Asn3202Lys)
c.9477T>A (p.Asn3159Lys)
c.9468T>A (p.Asn3156Lys)
c.8964T>A (p.Asn2988Lys)
c.8895T>A (p.Asn2965Lys)
c.3681T>A (p.Asn1227Lys)
c.9531T>A (p.Asn3177Lys)
c.9411T>A (p.Asn3137Lys)
c.9342T>A (p.Asn3114Lys)
c.7746T>A (p.Asn2582Lys)
n.9882T>A
6g.51748010_51748011delinsATCA1628502297PKHD1c.9605_9606delinsAT (p.Asn3202=)
c.9476_9477delinsAT (p.Asn3159=)
c.9467_9468delinsAT (p.Asn3156=)
c.8963_8964delinsAT (p.Asn2988=)
c.8894_8895delinsAT (p.Asn2965=)
c.3680_3681delinsAT (p.Asn1227=)
c.9530_9531delinsAT (p.Asn3177=)
c.9410_9411delinsAT (p.Asn3137=)
c.9341_9342delinsAT (p.Asn3114=)
c.7745_7746delinsAT (p.Asn2582=)
n.9881_9882delinsAT
6g.51748011T>ACA364420708PKHD1c.9605A>T (p.Asn3202Ile)
c.9476A>T (p.Asn3159Ile)
c.9467A>T (p.Asn3156Ile)
c.8963A>T (p.Asn2988Ile)
c.8894A>T (p.Asn2965Ile)
c.3680A>T (p.Asn1227Ile)
c.9530A>T (p.Asn3177Ile)
c.9410A>T (p.Asn3137Ile)
c.9341A>T (p.Asn3114Ile)
c.7745A>T (p.Asn2582Ile)
n.9881A>T
6g.51748011T>CCA364420709PKHD1c.9605A>G (p.Asn3202Ser)
c.9476A>G (p.Asn3159Ser)
c.9467A>G (p.Asn3156Ser)
c.8963A>G (p.Asn2988Ser)
c.8894A>G (p.Asn2965Ser)
c.3680A>G (p.Asn1227Ser)
c.9530A>G (p.Asn3177Ser)
c.9410A>G (p.Asn3137Ser)
c.9341A>G (p.Asn3114Ser)
c.7745A>G (p.Asn2582Ser)
n.9881A>G
 gnomAD v4
6g.51748011T>GCA364420710PKHD1c.9605A>C (p.Asn3202Thr)
c.9476A>C (p.Asn3159Thr)
c.9467A>C (p.Asn3156Thr)
c.8963A>C (p.Asn2988Thr)
c.8894A>C (p.Asn2965Thr)
c.3680A>C (p.Asn1227Thr)
c.9530A>C (p.Asn3177Thr)
c.9410A>C (p.Asn3137Thr)
c.9341A>C (p.Asn3114Thr)
c.7745A>C (p.Asn2582Thr)
n.9881A>C
6g.51748012delCA1628502300PKHD1c.9605del (p.Asn3202IlefsTer18)
c.9476del (p.Asn3159IlefsTer18)
c.9467del (p.Asn3156IlefsTer18)
c.8963del (p.Asn2988IlefsTer18)
c.8894del (p.Asn2965IlefsTer18)
c.3680del (p.Asn1227IlefsTer18)
c.9530del (p.Asn3177IlefsTer18)
c.9410del (p.Asn3137IlefsTer18)
c.9341del (p.Asn3114IlefsTer18)
c.7745del (p.Asn2582IlefsTer18)
n.9881del
 dbSNP
6g.51748012T>ACA364420713PKHD1c.9604A>T (p.Asn3202Tyr)
c.9475A>T (p.Asn3159Tyr)
c.9466A>T (p.Asn3156Tyr)
c.8962A>T (p.Asn2988Tyr)
c.8893A>T (p.Asn2965Tyr)
c.3679A>T (p.Asn1227Tyr)
c.9529A>T (p.Asn3177Tyr)
c.9409A>T (p.Asn3137Tyr)
c.9340A>T (p.Asn3114Tyr)
c.7744A>T (p.Asn2582Tyr)
n.9880A>T
 dbSNP gnomAD v2 gnomAD v4
6g.51748012T>CCA364420711PKHD1c.9604A>G (p.Asn3202Asp)
c.9475A>G (p.Asn3159Asp)
c.9466A>G (p.Asn3156Asp)
c.8962A>G (p.Asn2988Asp)
c.8893A>G (p.Asn2965Asp)
c.3679A>G (p.Asn1227Asp)
c.9529A>G (p.Asn3177Asp)
c.9409A>G (p.Asn3137Asp)
c.9340A>G (p.Asn3114Asp)
c.7744A>G (p.Asn2582Asp)
n.9880A>G
6g.51748012T>GCA364420712PKHD1c.9604A>C (p.Asn3202His)
c.9475A>C (p.Asn3159His)
c.9466A>C (p.Asn3156His)
c.8962A>C (p.Asn2988His)
c.8893A>C (p.Asn2965His)
c.3679A>C (p.Asn1227His)
c.9529A>C (p.Asn3177His)
c.9409A>C (p.Asn3137His)
c.9340A>C (p.Asn3114His)
c.7744A>C (p.Asn2582His)
n.9880A>C
 gnomAD v4
6g.51748012T=CA1628502303PKHD1c.9604A= (p.Asn3202=)
c.9475A= (p.Asn3159=)
c.9466A= (p.Asn3156=)
c.8962A= (p.Asn2988=)
c.8893A= (p.Asn2965=)
c.3679A= (p.Asn1227=)
c.9529A= (p.Asn3177=)
c.9409A= (p.Asn3137=)
c.9340A= (p.Asn3114=)
c.7744A= (p.Asn2582=)
n.9880A=
6g.51748013C>ACA364420714PKHD1c.9603G>T (p.Arg3201Ser)
c.9474G>T (p.Arg3158Ser)
c.9465G>T (p.Arg3155Ser)
c.8961G>T (p.Arg2987Ser)
c.8892G>T (p.Arg2964Ser)
c.3678G>T (p.Arg1226Ser)
c.9528G>T (p.Arg3176Ser)
c.9408G>T (p.Arg3136Ser)
c.9339G>T (p.Arg3113Ser)
c.7743G>T (p.Arg2581Ser)
n.9879G>T
6g.51748013C=CA1628502307PKHD1c.9603G= (p.Arg3201=)
c.9474G= (p.Arg3158=)
c.9465G= (p.Arg3155=)
c.8961G= (p.Arg2987=)
c.8892G= (p.Arg2964=)
c.3678G= (p.Arg1226=)
c.9528G= (p.Arg3176=)
c.9408G= (p.Arg3136=)
c.9339G= (p.Arg3113=)
c.7743G= (p.Arg2581=)
n.9879G=
6g.51748013C>GCA364420715PKHD1c.9603G>C (p.Arg3201Ser)
c.9474G>C (p.Arg3158Ser)
c.9465G>C (p.Arg3155Ser)
c.8961G>C (p.Arg2987Ser)
c.8892G>C (p.Arg2964Ser)
c.3678G>C (p.Arg1226Ser)
c.9528G>C (p.Arg3176Ser)
c.9408G>C (p.Arg3136Ser)
c.9339G>C (p.Arg3113Ser)
c.7743G>C (p.Arg2581Ser)
n.9879G>C
6g.51748013C>TCA138896013PKHD1c.9603G>A (p.Arg3201=)
c.9474G>A (p.Arg3158=)
c.9465G>A (p.Arg3155=)
c.8961G>A (p.Arg2987=)
c.8892G>A (p.Arg2964=)
c.3678G>A (p.Arg1226=)
c.9528G>A (p.Arg3176=)
c.9408G>A (p.Arg3136=)
c.9339G>A (p.Arg3113=)
c.7743G>A (p.Arg2581=)
n.9879G>A
 ClinVar dbSNP
6g.51748014C>ACA364420716PKHD1c.9602G>T (p.Arg3201Met)
c.9473G>T (p.Arg3158Met)
c.9464G>T (p.Arg3155Met)
c.8960G>T (p.Arg2987Met)
c.8891G>T (p.Arg2964Met)
c.3677G>T (p.Arg1226Met)
c.9527G>T (p.Arg3176Met)
c.9407G>T (p.Arg3136Met)
c.9338G>T (p.Arg3113Met)
c.7742G>T (p.Arg2581Met)
n.9878G>T
6g.51748014C=CA1628502310PKHD1c.9602G= (p.Arg3201=)
c.9473G= (p.Arg3158=)
c.9464G= (p.Arg3155=)
c.8960G= (p.Arg2987=)
c.8891G= (p.Arg2964=)
c.3677G= (p.Arg1226=)
c.9527G= (p.Arg3176=)
c.9407G= (p.Arg3136=)
c.9338G= (p.Arg3113=)
c.7742G= (p.Arg2581=)
n.9878G=
6g.51748014C>GCA364420717PKHD1c.9602G>C (p.Arg3201Thr)
c.9473G>C (p.Arg3158Thr)
c.9464G>C (p.Arg3155Thr)
c.8960G>C (p.Arg2987Thr)
c.8891G>C (p.Arg2964Thr)
c.3677G>C (p.Arg1226Thr)
c.9527G>C (p.Arg3176Thr)
c.9407G>C (p.Arg3136Thr)
c.9338G>C (p.Arg3113Thr)
c.7742G>C (p.Arg2581Thr)
n.9878G>C
6g.51748014C>TCA364420718PKHD1c.9602G>A (p.Arg3201Lys)
c.9473G>A (p.Arg3158Lys)
c.9464G>A (p.Arg3155Lys)
c.8960G>A (p.Arg2987Lys)
c.8891G>A (p.Arg2964Lys)
c.3677G>A (p.Arg1226Lys)
c.9527G>A (p.Arg3176Lys)
c.9407G>A (p.Arg3136Lys)
c.9338G>A (p.Arg3113Lys)
c.7742G>A (p.Arg2581Lys)
n.9878G>A
 dbSNP gnomAD v3 gnomAD v4
6g.51748015T>ACA364420719PKHD1c.9601A>T (p.Arg3201Trp)
c.9472A>T (p.Arg3158Trp)
c.9463A>T (p.Arg3155Trp)
c.8959A>T (p.Arg2987Trp)
c.8890A>T (p.Arg2964Trp)
c.3676A>T (p.Arg1226Trp)
c.9526A>T (p.Arg3176Trp)
c.9406A>T (p.Arg3136Trp)
c.9337A>T (p.Arg3113Trp)
c.7741A>T (p.Arg2581Trp)
n.9877A>T
6g.51748015T>CCA364420720PKHD1c.9601A>G (p.Arg3201Gly)
c.9472A>G (p.Arg3158Gly)
c.9463A>G (p.Arg3155Gly)
c.8959A>G (p.Arg2987Gly)
c.8890A>G (p.Arg2964Gly)
c.3676A>G (p.Arg1226Gly)
c.9526A>G (p.Arg3176Gly)
c.9406A>G (p.Arg3136Gly)
c.9337A>G (p.Arg3113Gly)
c.7741A>G (p.Arg2581Gly)
n.9877A>G
6g.51748015T>GCA450613695PKHD1c.9601A>C (p.Arg3201=)
c.9472A>C (p.Arg3158=)
c.9463A>C (p.Arg3155=)
c.8959A>C (p.Arg2987=)
c.8890A>C (p.Arg2964=)
c.3676A>C (p.Arg1226=)
c.9526A>C (p.Arg3176=)
c.9406A>C (p.Arg3136=)
c.9337A>C (p.Arg3113=)
c.7741A>C (p.Arg2581=)
n.9877A>C
6g.51748016A>CCA450613697PKHD1c.9600T>G (p.Leu3200=)
c.9471T>G (p.Leu3157=)
c.9462T>G (p.Leu3154=)
c.8958T>G (p.Leu2986=)
c.8889T>G (p.Leu2963=)
c.3675T>G (p.Leu1225=)
c.9525T>G (p.Leu3175=)
c.9405T>G (p.Leu3135=)
c.9336T>G (p.Leu3112=)
c.7740T>G (p.Leu2580=)
n.9876T>G
6g.51748016A>GCA450613698PKHD1c.9600T>C (p.Leu3200=)
c.9471T>C (p.Leu3157=)
c.9462T>C (p.Leu3154=)
c.8958T>C (p.Leu2986=)
c.8889T>C (p.Leu2963=)
c.3675T>C (p.Leu1225=)
c.9525T>C (p.Leu3175=)
c.9405T>C (p.Leu3135=)
c.9336T>C (p.Leu3112=)
c.7740T>C (p.Leu2580=)
n.9876T>C
6g.51748016A>TCA450613699PKHD1c.9600T>A (p.Leu3200=)
c.9471T>A (p.Leu3157=)
c.9462T>A (p.Leu3154=)
c.8958T>A (p.Leu2986=)
c.8889T>A (p.Leu2963=)
c.3675T>A (p.Leu1225=)
c.9525T>A (p.Leu3175=)
c.9405T>A (p.Leu3135=)
c.9336T>A (p.Leu3112=)
c.7740T>A (p.Leu2580=)
n.9876T>A
6g.51748017dupCA2695206425PKHD1c.9600dup (p.Arg3201Ter)
c.9471dup (p.Arg3158Ter)
c.9462dup (p.Arg3155Ter)
c.8958dup (p.Arg2987Ter)
c.8889dup (p.Arg2964Ter)
c.3675dup (p.Arg1226Ter)
c.9525dup (p.Arg3176Ter)
c.9405dup (p.Arg3136Ter)
c.9336dup (p.Arg3113Ter)
c.7740dup (p.Arg2581Ter)
n.9876dup
6g.51748017delCA2580075428PKHD1c.9600del (p.Arg3201GlyfsTer19)
c.9471del (p.Arg3158GlyfsTer19)
c.9462del (p.Arg3155GlyfsTer19)
c.8958del (p.Arg2987GlyfsTer19)
c.8889del (p.Arg2964GlyfsTer19)
c.3675del (p.Arg1226GlyfsTer19)
c.9525del (p.Arg3176GlyfsTer19)
c.9405del (p.Arg3136GlyfsTer19)
c.9336del (p.Arg3113GlyfsTer19)
c.7740del (p.Arg2581GlyfsTer19)
n.9876del
 ClinVar
6g.51748017A>CCA364420721PKHD1c.9599T>G (p.Leu3200Arg)
c.9470T>G (p.Leu3157Arg)
c.9461T>G (p.Leu3154Arg)
c.8957T>G (p.Leu2986Arg)
c.8888T>G (p.Leu2963Arg)
c.3674T>G (p.Leu1225Arg)
c.9524T>G (p.Leu3175Arg)
c.9404T>G (p.Leu3135Arg)
c.9335T>G (p.Leu3112Arg)
c.7739T>G (p.Leu2580Arg)
n.9875T>G
 gnomAD v4
6g.51748017A>GCA364420722PKHD1c.9599T>C (p.Leu3200Pro)
c.9470T>C (p.Leu3157Pro)
c.9461T>C (p.Leu3154Pro)
c.8957T>C (p.Leu2986Pro)
c.8888T>C (p.Leu2963Pro)
c.3674T>C (p.Leu1225Pro)
c.9524T>C (p.Leu3175Pro)
c.9404T>C (p.Leu3135Pro)
c.9335T>C (p.Leu3112Pro)
c.7739T>C (p.Leu2580Pro)
n.9875T>C
6g.51748017A>TCA364420723PKHD1c.9599T>A (p.Leu3200His)
c.9470T>A (p.Leu3157His)
c.9461T>A (p.Leu3154His)
c.8957T>A (p.Leu2986His)
c.8888T>A (p.Leu2963His)
c.3674T>A (p.Leu1225His)
c.9524T>A (p.Leu3175His)
c.9404T>A (p.Leu3135His)
c.9335T>A (p.Leu3112His)
c.7739T>A (p.Leu2580His)
n.9875T>A
6g.51748018G>ACA138896021PKHD1c.9598C>T (p.Leu3200Phe)
c.9469C>T (p.Leu3157Phe)
c.9460C>T (p.Leu3154Phe)
c.8956C>T (p.Leu2986Phe)
c.8887C>T (p.Leu2963Phe)
c.3673C>T (p.Leu1225Phe)
c.9523C>T (p.Leu3175Phe)
c.9403C>T (p.Leu3135Phe)
c.9334C>T (p.Leu3112Phe)
c.7738C>T (p.Leu2580Phe)
n.9874C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51748018G>CCA364420724PKHD1c.9598C>G (p.Leu3200Val)
c.9469C>G (p.Leu3157Val)
c.9460C>G (p.Leu3154Val)
c.8956C>G (p.Leu2986Val)
c.8887C>G (p.Leu2963Val)
c.3673C>G (p.Leu1225Val)
c.9523C>G (p.Leu3175Val)
c.9403C>G (p.Leu3135Val)
c.9334C>G (p.Leu3112Val)
c.7738C>G (p.Leu2580Val)
n.9874C>G
6g.51748018G=CA1628502313PKHD1c.9598C= (p.Leu3200=)
c.9469C= (p.Leu3157=)
c.9460C= (p.Leu3154=)
c.8956C= (p.Leu2986=)
c.8887C= (p.Leu2963=)
c.3673C= (p.Leu1225=)
c.9523C= (p.Leu3175=)
c.9403C= (p.Leu3135=)
c.9334C= (p.Leu3112=)
c.7738C= (p.Leu2580=)
n.9874C=
6g.51748018G>TCA364420725PKHD1c.9598C>A (p.Leu3200Ile)
c.9469C>A (p.Leu3157Ile)
c.9460C>A (p.Leu3154Ile)
c.8956C>A (p.Leu2986Ile)
c.8887C>A (p.Leu2963Ile)
c.3673C>A (p.Leu1225Ile)
c.9523C>A (p.Leu3175Ile)
c.9403C>A (p.Leu3135Ile)
c.9334C>A (p.Leu3112Ile)
c.7738C>A (p.Leu2580Ile)
n.9874C>A
6g.51748019C>ACA450613700PKHD1c.9597G>T (p.Val3199=)
c.9468G>T (p.Val3156=)
c.9459G>T (p.Val3153=)
c.8955G>T (p.Val2985=)
c.8886G>T (p.Val2962=)
c.3672G>T (p.Val1224=)
c.9522G>T (p.Val3174=)
c.9402G>T (p.Val3134=)
c.9333G>T (p.Val3111=)
c.7737G>T (p.Val2579=)
n.9873G>T
 dbSNP gnomAD v2 gnomAD v4
6g.51748019C=CA1628502315PKHD1c.9597G= (p.Val3199=)
c.9468G= (p.Val3156=)
c.9459G= (p.Val3153=)
c.8955G= (p.Val2985=)
c.8886G= (p.Val2962=)
c.3672G= (p.Val1224=)
c.9522G= (p.Val3174=)
c.9402G= (p.Val3134=)
c.9333G= (p.Val3111=)
c.7737G= (p.Val2579=)
n.9873G=
6g.51748019C>GCA450613701PKHD1c.9597G>C (p.Val3199=)
c.9468G>C (p.Val3156=)
c.9459G>C (p.Val3153=)
c.8955G>C (p.Val2985=)
c.8886G>C (p.Val2962=)
c.3672G>C (p.Val1224=)
c.9522G>C (p.Val3174=)
c.9402G>C (p.Val3134=)
c.9333G>C (p.Val3111=)
c.7737G>C (p.Val2579=)
n.9873G>C
6g.51748019C>TCA450613702PKHD1c.9597G>A (p.Val3199=)
c.9468G>A (p.Val3156=)
c.9459G>A (p.Val3153=)
c.8955G>A (p.Val2985=)
c.8886G>A (p.Val2962=)
c.3672G>A (p.Val1224=)
c.9522G>A (p.Val3174=)
c.9402G>A (p.Val3134=)
c.9333G>A (p.Val3111=)
c.7737G>A (p.Val2579=)
n.9873G>A
6g.51748020A>CCA364420726PKHD1c.9596T>G (p.Val3199Gly)
c.9467T>G (p.Val3156Gly)
c.9458T>G (p.Val3153Gly)
c.8954T>G (p.Val2985Gly)
c.8885T>G (p.Val2962Gly)
c.3671T>G (p.Val1224Gly)
c.9521T>G (p.Val3174Gly)
c.9401T>G (p.Val3134Gly)
c.9332T>G (p.Val3111Gly)
c.7736T>G (p.Val2579Gly)
n.9872T>G
6g.51748020A>GCA364420728PKHD1c.9596T>C (p.Val3199Ala)
c.9467T>C (p.Val3156Ala)
c.9458T>C (p.Val3153Ala)
c.8954T>C (p.Val2985Ala)
c.8885T>C (p.Val2962Ala)
c.3671T>C (p.Val1224Ala)
c.9521T>C (p.Val3174Ala)
c.9401T>C (p.Val3134Ala)
c.9332T>C (p.Val3111Ala)
c.7736T>C (p.Val2579Ala)
n.9872T>C
6g.51748020A>TCA364420727PKHD1c.9596T>A (p.Val3199Glu)
c.9467T>A (p.Val3156Glu)
c.9458T>A (p.Val3153Glu)
c.8954T>A (p.Val2985Glu)
c.8885T>A (p.Val2962Glu)
c.3671T>A (p.Val1224Glu)
c.9521T>A (p.Val3174Glu)
c.9401T>A (p.Val3134Glu)
c.9332T>A (p.Val3111Glu)
c.7736T>A (p.Val2579Glu)
n.9872T>A
6g.51748021C>ACA364420729PKHD1c.9595G>T (p.Val3199Leu)
c.9466G>T (p.Val3156Leu)
c.9457G>T (p.Val3153Leu)
c.8953G>T (p.Val2985Leu)
c.8884G>T (p.Val2962Leu)
c.3670G>T (p.Val1224Leu)
c.9520G>T (p.Val3174Leu)
c.9400G>T (p.Val3134Leu)
c.9331G>T (p.Val3111Leu)
c.7735G>T (p.Val2579Leu)
n.9871G>T
 dbSNP
6g.51748021C=CA1628502320PKHD1c.9595G= (p.Val3199=)
c.9466G= (p.Val3156=)
c.9457G= (p.Val3153=)
c.8953G= (p.Val2985=)
c.8884G= (p.Val2962=)
c.3670G= (p.Val1224=)
c.9520G= (p.Val3174=)
c.9400G= (p.Val3134=)
c.9331G= (p.Val3111=)
c.7735G= (p.Val2579=)
n.9871G=
6g.51748021C>GCA364420730PKHD1c.9595G>C (p.Val3199Leu)
c.9466G>C (p.Val3156Leu)
c.9457G>C (p.Val3153Leu)
c.8953G>C (p.Val2985Leu)
c.8884G>C (p.Val2962Leu)
c.3670G>C (p.Val1224Leu)
c.9520G>C (p.Val3174Leu)
c.9400G>C (p.Val3134Leu)
c.9331G>C (p.Val3111Leu)
c.7735G>C (p.Val2579Leu)
n.9871G>C
6g.51748021C>TCA364420731PKHD1c.9595G>A (p.Val3199Met)
c.9466G>A (p.Val3156Met)
c.9457G>A (p.Val3153Met)
c.8953G>A (p.Val2985Met)
c.8884G>A (p.Val2962Met)
c.3670G>A (p.Val1224Met)
c.9520G>A (p.Val3174Met)
c.9400G>A (p.Val3134Met)
c.9331G>A (p.Val3111Met)
c.7735G>A (p.Val2579Met)
n.9871G>A
 gnomAD v4
6g.51748022A=CA1628502321PKHD1c.9594T= (p.Ile3198=)
c.9465T= (p.Ile3155=)
c.9456T= (p.Ile3152=)
c.8952T= (p.Ile2984=)
c.8883T= (p.Ile2961=)
c.3669T= (p.Ile1223=)
c.9519T= (p.Ile3173=)
c.9399T= (p.Ile3133=)
c.9330T= (p.Ile3110=)
c.7734T= (p.Ile2578=)
n.9870T=
6g.51748022A>CCA364420732PKHD1c.9594T>G (p.Ile3198Met)
c.9465T>G (p.Ile3155Met)
c.9456T>G (p.Ile3152Met)
c.8952T>G (p.Ile2984Met)
c.8883T>G (p.Ile2961Met)
c.3669T>G (p.Ile1223Met)
c.9519T>G (p.Ile3173Met)
c.9399T>G (p.Ile3133Met)
c.9330T>G (p.Ile3110Met)
c.7734T>G (p.Ile2578Met)
n.9870T>G
6g.51748022A>GCA450613707PKHD1c.9594T>C (p.Ile3198=)
c.9465T>C (p.Ile3155=)
c.9456T>C (p.Ile3152=)
c.8952T>C (p.Ile2984=)
c.8883T>C (p.Ile2961=)
c.3669T>C (p.Ile1223=)
c.9519T>C (p.Ile3173=)
c.9399T>C (p.Ile3133=)
c.9330T>C (p.Ile3110=)
c.7734T>C (p.Ile2578=)
n.9870T>C
6g.51748022A>TCA3851366PKHD1c.9594T>A (p.Ile3198=)
c.9465T>A (p.Ile3155=)
c.9456T>A (p.Ile3152=)
c.8952T>A (p.Ile2984=)
c.8883T>A (p.Ile2961=)
c.3669T>A (p.Ile1223=)
c.9519T>A (p.Ile3173=)
c.9399T>A (p.Ile3133=)
c.9330T>A (p.Ile3110=)
c.7734T>A (p.Ile2578=)
n.9870T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748023A>CCA364420733PKHD1c.9593T>G (p.Ile3198Ser)
c.9464T>G (p.Ile3155Ser)
c.9455T>G (p.Ile3152Ser)
c.8951T>G (p.Ile2984Ser)
c.8882T>G (p.Ile2961Ser)
c.3668T>G (p.Ile1223Ser)
c.9518T>G (p.Ile3173Ser)
c.9398T>G (p.Ile3133Ser)
c.9329T>G (p.Ile3110Ser)
c.7733T>G (p.Ile2578Ser)
n.9869T>G
6g.51748023A>GCA364420734PKHD1c.9593T>C (p.Ile3198Thr)
c.9464T>C (p.Ile3155Thr)
c.9455T>C (p.Ile3152Thr)
c.8951T>C (p.Ile2984Thr)
c.8882T>C (p.Ile2961Thr)
c.3668T>C (p.Ile1223Thr)
c.9518T>C (p.Ile3173Thr)
c.9398T>C (p.Ile3133Thr)
c.9329T>C (p.Ile3110Thr)
c.7733T>C (p.Ile2578Thr)
n.9869T>C
 gnomAD v4
6g.51748023A>TCA364420735PKHD1c.9593T>A (p.Ile3198Asn)
c.9464T>A (p.Ile3155Asn)
c.9455T>A (p.Ile3152Asn)
c.8951T>A (p.Ile2984Asn)
c.8882T>A (p.Ile2961Asn)
c.3668T>A (p.Ile1223Asn)
c.9518T>A (p.Ile3173Asn)
c.9398T>A (p.Ile3133Asn)
c.9329T>A (p.Ile3110Asn)
c.7733T>A (p.Ile2578Asn)
n.9869T>A
6g.51748024T>ACA364420736PKHD1c.9592A>T (p.Ile3198Phe)
c.9463A>T (p.Ile3155Phe)
c.9454A>T (p.Ile3152Phe)
c.8950A>T (p.Ile2984Phe)
c.8881A>T (p.Ile2961Phe)
c.3667A>T (p.Ile1223Phe)
c.9517A>T (p.Ile3173Phe)
c.9397A>T (p.Ile3133Phe)
c.9328A>T (p.Ile3110Phe)
c.7732A>T (p.Ile2578Phe)
n.9868A>T
6g.51748024T>CCA364420737PKHD1c.9592A>G (p.Ile3198Val)
c.9463A>G (p.Ile3155Val)
c.9454A>G (p.Ile3152Val)
c.8950A>G (p.Ile2984Val)
c.8881A>G (p.Ile2961Val)
c.3667A>G (p.Ile1223Val)
c.9517A>G (p.Ile3173Val)
c.9397A>G (p.Ile3133Val)
c.9328A>G (p.Ile3110Val)
c.7732A>G (p.Ile2578Val)
n.9868A>G
6g.51748024T>GCA364420738PKHD1c.9592A>C (p.Ile3198Leu)
c.9463A>C (p.Ile3155Leu)
c.9454A>C (p.Ile3152Leu)
c.8950A>C (p.Ile2984Leu)
c.8881A>C (p.Ile2961Leu)
c.3667A>C (p.Ile1223Leu)
c.9517A>C (p.Ile3173Leu)
c.9397A>C (p.Ile3133Leu)
c.9328A>C (p.Ile3110Leu)
c.7732A>C (p.Ile2578Leu)
n.9868A>C
6g.51748025C>ACA364420739PKHD1c.9591G>T (p.Gln3197His)
c.9462G>T (p.Gln3154His)
c.9453G>T (p.Gln3151His)
c.8949G>T (p.Gln2983His)
c.8880G>T (p.Gln2960His)
c.3666G>T (p.Gln1222His)
c.9516G>T (p.Gln3172His)
c.9396G>T (p.Gln3132His)
c.9327G>T (p.Gln3109His)
c.7731G>T (p.Gln2577His)
n.9867G>T
 dbSNP
6g.51748025C=CA1628502322PKHD1c.9591G= (p.Gln3197=)
c.9462G= (p.Gln3154=)
c.9453G= (p.Gln3151=)
c.8949G= (p.Gln2983=)
c.8880G= (p.Gln2960=)
c.3666G= (p.Gln1222=)
c.9516G= (p.Gln3172=)
c.9396G= (p.Gln3132=)
c.9327G= (p.Gln3109=)
c.7731G= (p.Gln2577=)
n.9867G=
6g.51748025C>GCA364420740PKHD1c.9591G>C (p.Gln3197His)
c.9462G>C (p.Gln3154His)
c.9453G>C (p.Gln3151His)
c.8949G>C (p.Gln2983His)
c.8880G>C (p.Gln2960His)
c.3666G>C (p.Gln1222His)
c.9516G>C (p.Gln3172His)
c.9396G>C (p.Gln3132His)
c.9327G>C (p.Gln3109His)
c.7731G>C (p.Gln2577His)
n.9867G>C
 dbSNP gnomAD v2
6g.51748025C>TCA450613711PKHD1c.9591G>A (p.Gln3197=)
c.9462G>A (p.Gln3154=)
c.9453G>A (p.Gln3151=)
c.8949G>A (p.Gln2983=)
c.8880G>A (p.Gln2960=)
c.3666G>A (p.Gln1222=)
c.9516G>A (p.Gln3172=)
c.9396G>A (p.Gln3132=)
c.9327G>A (p.Gln3109=)
c.7731G>A (p.Gln2577=)
n.9867G>A
6g.51748026T>ACA138896026PKHD1c.9590A>T (p.Gln3197Leu)
c.9461A>T (p.Gln3154Leu)
c.9452A>T (p.Gln3151Leu)
c.8948A>T (p.Gln2983Leu)
c.8879A>T (p.Gln2960Leu)
c.3665A>T (p.Gln1222Leu)
c.9515A>T (p.Gln3172Leu)
c.9395A>T (p.Gln3132Leu)
c.9326A>T (p.Gln3109Leu)
c.7730A>T (p.Gln2577Leu)
n.9866A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748026T>CCA364420741PKHD1c.9590A>G (p.Gln3197Arg)
c.9461A>G (p.Gln3154Arg)
c.9452A>G (p.Gln3151Arg)
c.8948A>G (p.Gln2983Arg)
c.8879A>G (p.Gln2960Arg)
c.3665A>G (p.Gln1222Arg)
c.9515A>G (p.Gln3172Arg)
c.9395A>G (p.Gln3132Arg)
c.9326A>G (p.Gln3109Arg)
c.7730A>G (p.Gln2577Arg)
n.9866A>G
6g.51748026T>GCA364420742PKHD1c.9590A>C (p.Gln3197Pro)
c.9461A>C (p.Gln3154Pro)
c.9452A>C (p.Gln3151Pro)
c.8948A>C (p.Gln2983Pro)
c.8879A>C (p.Gln2960Pro)
c.3665A>C (p.Gln1222Pro)
c.9515A>C (p.Gln3172Pro)
c.9395A>C (p.Gln3132Pro)
c.9326A>C (p.Gln3109Pro)
c.7730A>C (p.Gln2577Pro)
n.9866A>C
6g.51748026T=CA1628502326PKHD1c.9590A= (p.Gln3197=)
c.9461A= (p.Gln3154=)
c.9452A= (p.Gln3151=)
c.8948A= (p.Gln2983=)
c.8879A= (p.Gln2960=)
c.3665A= (p.Gln1222=)
c.9515A= (p.Gln3172=)
c.9395A= (p.Gln3132=)
c.9326A= (p.Gln3109=)
c.7730A= (p.Gln2577=)
n.9866A=
6g.51748027G>ACA364420743PKHD1c.9589C>T (p.Gln3197Ter)
c.9460C>T (p.Gln3154Ter)
c.9451C>T (p.Gln3151Ter)
c.8947C>T (p.Gln2983Ter)
c.8878C>T (p.Gln2960Ter)
c.3664C>T (p.Gln1222Ter)
c.9514C>T (p.Gln3172Ter)
c.9394C>T (p.Gln3132Ter)
c.9325C>T (p.Gln3109Ter)
c.7729C>T (p.Gln2577Ter)
n.9865C>T
 ClinVar dbSNP
6g.51748027G>CCA364420744PKHD1c.9589C>G (p.Gln3197Glu)
c.9460C>G (p.Gln3154Glu)
c.9451C>G (p.Gln3151Glu)
c.8947C>G (p.Gln2983Glu)
c.8878C>G (p.Gln2960Glu)
c.3664C>G (p.Gln1222Glu)
c.9514C>G (p.Gln3172Glu)
c.9394C>G (p.Gln3132Glu)
c.9325C>G (p.Gln3109Glu)
c.7729C>G (p.Gln2577Glu)
n.9865C>G
6g.51748027G>TCA364420745PKHD1c.9589C>A (p.Gln3197Lys)
c.9460C>A (p.Gln3154Lys)
c.9451C>A (p.Gln3151Lys)
c.8947C>A (p.Gln2983Lys)
c.8878C>A (p.Gln2960Lys)
c.3664C>A (p.Gln1222Lys)
c.9514C>A (p.Gln3172Lys)
c.9394C>A (p.Gln3132Lys)
c.9325C>A (p.Gln3109Lys)
c.7729C>A (p.Gln2577Lys)
n.9865C>A
 gnomAD v4
6g.51748028C>ACA450613718PKHD1c.9588G>T (p.Val3196=)
c.9459G>T (p.Val3153=)
c.9450G>T (p.Val3150=)
c.8946G>T (p.Val2982=)
c.8877G>T (p.Val2959=)
c.3663G>T (p.Val1221=)
c.9513G>T (p.Val3171=)
c.9393G>T (p.Val3131=)
c.9324G>T (p.Val3108=)
c.7728G>T (p.Val2576=)
n.9864G>T
6g.51748028C>GCA450613719PKHD1c.9588G>C (p.Val3196=)
c.9459G>C (p.Val3153=)
c.9450G>C (p.Val3150=)
c.8946G>C (p.Val2982=)
c.8877G>C (p.Val2959=)
c.3663G>C (p.Val1221=)
c.9513G>C (p.Val3171=)
c.9393G>C (p.Val3131=)
c.9324G>C (p.Val3108=)
c.7728G>C (p.Val2576=)
n.9864G>C
 gnomAD v4
6g.51748028C>TCA450613720PKHD1c.9588G>A (p.Val3196=)
c.9459G>A (p.Val3153=)
c.9450G>A (p.Val3150=)
c.8946G>A (p.Val2982=)
c.8877G>A (p.Val2959=)
c.3663G>A (p.Val1221=)
c.9513G>A (p.Val3171=)
c.9393G>A (p.Val3131=)
c.9324G>A (p.Val3108=)
c.7728G>A (p.Val2576=)
n.9864G>A
 ClinVar dbSNP gnomAD v4
6g.51748029A>CCA364420746PKHD1c.9587T>G (p.Val3196Gly)
c.9458T>G (p.Val3153Gly)
c.9449T>G (p.Val3150Gly)
c.8945T>G (p.Val2982Gly)
c.8876T>G (p.Val2959Gly)
c.3662T>G (p.Val1221Gly)
c.9512T>G (p.Val3171Gly)
c.9392T>G (p.Val3131Gly)
c.9323T>G (p.Val3108Gly)
c.7727T>G (p.Val2576Gly)
n.9863T>G
6g.51748029A>GCA364420747PKHD1c.9587T>C (p.Val3196Ala)
c.9458T>C (p.Val3153Ala)
c.9449T>C (p.Val3150Ala)
c.8945T>C (p.Val2982Ala)
c.8876T>C (p.Val2959Ala)
c.3662T>C (p.Val1221Ala)
c.9512T>C (p.Val3171Ala)
c.9392T>C (p.Val3131Ala)
c.9323T>C (p.Val3108Ala)
c.7727T>C (p.Val2576Ala)
n.9863T>C
6g.51748029A>TCA364420748PKHD1c.9587T>A (p.Val3196Glu)
c.9458T>A (p.Val3153Glu)
c.9449T>A (p.Val3150Glu)
c.8945T>A (p.Val2982Glu)
c.8876T>A (p.Val2959Glu)
c.3662T>A (p.Val1221Glu)
c.9512T>A (p.Val3171Glu)
c.9392T>A (p.Val3131Glu)
c.9323T>A (p.Val3108Glu)
c.7727T>A (p.Val2576Glu)
n.9863T>A
6g.51748030C>ACA364420749PKHD1c.9586G>T (p.Val3196Leu)
c.9457G>T (p.Val3153Leu)
c.9448G>T (p.Val3150Leu)
c.8944G>T (p.Val2982Leu)
c.8875G>T (p.Val2959Leu)
c.3661G>T (p.Val1221Leu)
c.9511G>T (p.Val3171Leu)
c.9391G>T (p.Val3131Leu)
c.9322G>T (p.Val3108Leu)
c.7726G>T (p.Val2576Leu)
n.9862G>T
6g.51748030C=CA1628502331PKHD1c.9586G= (p.Val3196=)
c.9457G= (p.Val3153=)
c.9448G= (p.Val3150=)
c.8944G= (p.Val2982=)
c.8875G= (p.Val2959=)
c.3661G= (p.Val1221=)
c.9511G= (p.Val3171=)
c.9391G= (p.Val3131=)
c.9322G= (p.Val3108=)
c.7726G= (p.Val2576=)
n.9862G=
6g.51748030C>GCA138896027PKHD1c.9586G>C (p.Val3196Leu)
c.9457G>C (p.Val3153Leu)
c.9448G>C (p.Val3150Leu)
c.8944G>C (p.Val2982Leu)
c.8875G>C (p.Val2959Leu)
c.3661G>C (p.Val1221Leu)
c.9511G>C (p.Val3171Leu)
c.9391G>C (p.Val3131Leu)
c.9322G>C (p.Val3108Leu)
c.7726G>C (p.Val2576Leu)
n.9862G>C
 dbSNP gnomAD v3 gnomAD v4
6g.51748030C>TCA364420750PKHD1c.9586G>A (p.Val3196Met)
c.9457G>A (p.Val3153Met)
c.9448G>A (p.Val3150Met)
c.8944G>A (p.Val2982Met)
c.8875G>A (p.Val2959Met)
c.3661G>A (p.Val1221Met)
c.9511G>A (p.Val3171Met)
c.9391G>A (p.Val3131Met)
c.9322G>A (p.Val3108Met)
c.7726G>A (p.Val2576Met)
n.9862G>A
 gnomAD v4
6g.51748030_51748033delCA913110676PKHD1c.9583_9586del (p.Lys3195CysfsTer24)
c.9454_9457del (p.Lys3152CysfsTer24)
c.9445_9448del (p.Lys3149CysfsTer24)
c.8941_8944del (p.Lys2981CysfsTer24)
c.8872_8875del (p.Lys2958CysfsTer24)
c.3658_3661del (p.Lys1220CysfsTer24)
c.9508_9511del (p.Lys3170CysfsTer24)
c.9388_9391del (p.Lys3130CysfsTer24)
c.9319_9322del (p.Lys3107CysfsTer24)
c.7723_7726del (p.Lys2575CysfsTer24)
n.9859_9862del
6g.51748030_51748033delinsCTTTCA1628502333PKHD1c.9583_9586delinsAAAG (p.Lys3195=)
c.9454_9457delinsAAAG (p.Lys3152=)
c.9445_9448delinsAAAG (p.Lys3149=)
c.8941_8944delinsAAAG (p.Lys2981=)
c.8872_8875delinsAAAG (p.Lys2958=)
c.3658_3661delinsAAAG (p.Lys1220=)
c.9508_9511delinsAAAG (p.Lys3170=)
c.9388_9391delinsAAAG (p.Lys3130=)
c.9319_9322delinsAAAG (p.Lys3107=)
c.7723_7726delinsAAAG (p.Lys2575=)
n.9859_9862delinsAAAG
6g.51748031T>ACA364420751PKHD1c.9585A>T (p.Lys3195Asn)
c.9456A>T (p.Lys3152Asn)
c.9447A>T (p.Lys3149Asn)
c.8943A>T (p.Lys2981Asn)
c.8874A>T (p.Lys2958Asn)
c.3660A>T (p.Lys1220Asn)
c.9510A>T (p.Lys3170Asn)
c.9390A>T (p.Lys3130Asn)
c.9321A>T (p.Lys3107Asn)
c.7725A>T (p.Lys2575Asn)
n.9861A>T
6g.51748031T>CCA450613721PKHD1c.9585A>G (p.Lys3195=)
c.9456A>G (p.Lys3152=)
c.9447A>G (p.Lys3149=)
c.8943A>G (p.Lys2981=)
c.8874A>G (p.Lys2958=)
c.3660A>G (p.Lys1220=)
c.9510A>G (p.Lys3170=)
c.9390A>G (p.Lys3130=)
c.9321A>G (p.Lys3107=)
c.7725A>G (p.Lys2575=)
n.9861A>G
 dbSNP gnomAD v2 gnomAD v4
6g.51748031T>GCA364420752PKHD1c.9585A>C (p.Lys3195Asn)
c.9456A>C (p.Lys3152Asn)
c.9447A>C (p.Lys3149Asn)
c.8943A>C (p.Lys2981Asn)
c.8874A>C (p.Lys2958Asn)
c.3660A>C (p.Lys1220Asn)
c.9510A>C (p.Lys3170Asn)
c.9390A>C (p.Lys3130Asn)
c.9321A>C (p.Lys3107Asn)
c.7725A>C (p.Lys2575Asn)
n.9861A>C
 ClinVar dbSNP gnomAD v4
6g.51748031T=CA1628502342PKHD1c.9585A= (p.Lys3195=)
c.9456A= (p.Lys3152=)
c.9447A= (p.Lys3149=)
c.8943A= (p.Lys2981=)
c.8874A= (p.Lys2958=)
c.3660A= (p.Lys1220=)
c.9510A= (p.Lys3170=)
c.9390A= (p.Lys3130=)
c.9321A= (p.Lys3107=)
c.7725A= (p.Lys2575=)
n.9861A=
6g.51748036dupCA1628502340PKHD1c.9585dup (p.Val3196SerfsTer6)
c.9456dup (p.Val3153SerfsTer6)
c.9447dup (p.Val3150SerfsTer6)
c.8943dup (p.Val2982SerfsTer6)
c.8874dup (p.Val2959SerfsTer6)
c.3660dup (p.Val1221SerfsTer6)
c.9510dup (p.Val3171SerfsTer6)
c.9390dup (p.Val3131SerfsTer6)
c.9321dup (p.Val3108SerfsTer6)
c.7725dup (p.Val2576SerfsTer6)
n.9861dup
 dbSNP
6g.51748035_51748036delCA2695198857PKHD1c.9584_9585del (p.Lys3195SerfsTer6)
c.9455_9456del (p.Lys3152SerfsTer6)
c.9446_9447del (p.Lys3149SerfsTer6)
c.8942_8943del (p.Lys2981SerfsTer6)
c.8873_8874del (p.Lys2958SerfsTer6)
c.3659_3660del (p.Lys1220SerfsTer6)
c.9509_9510del (p.Lys3170SerfsTer6)
c.9389_9390del (p.Lys3130SerfsTer6)
c.9320_9321del (p.Lys3107SerfsTer6)
c.7724_7725del (p.Lys2575SerfsTer6)
n.9860_9861del
 ClinVar
6g.51748034_51748036delCA658821794PKHD1c.9583_9585del (p.Lys3195del)
c.9454_9456del (p.Lys3152del)
c.9445_9447del (p.Lys3149del)
c.8941_8943del (p.Lys2981del)
c.8872_8874del (p.Lys2958del)
c.3658_3660del (p.Lys1220del)
c.9508_9510del (p.Lys3170del)
c.9388_9390del (p.Lys3130del)
c.9319_9321del (p.Lys3107del)
c.7723_7725del (p.Lys2575del)
n.9859_9861del
 ClinVar dbSNP gnomAD v4
6g.51748032T>ACA364420755PKHD1c.9584A>T (p.Lys3195Ile)
c.9455A>T (p.Lys3152Ile)
c.9446A>T (p.Lys3149Ile)
c.8942A>T (p.Lys2981Ile)
c.8873A>T (p.Lys2958Ile)
c.3659A>T (p.Lys1220Ile)
c.9509A>T (p.Lys3170Ile)
c.9389A>T (p.Lys3130Ile)
c.9320A>T (p.Lys3107Ile)
c.7724A>T (p.Lys2575Ile)
n.9860A>T
 gnomAD v4
6g.51748032T>CCA364420753PKHD1c.9584A>G (p.Lys3195Arg)
c.9455A>G (p.Lys3152Arg)
c.9446A>G (p.Lys3149Arg)
c.8942A>G (p.Lys2981Arg)
c.8873A>G (p.Lys2958Arg)
c.3659A>G (p.Lys1220Arg)
c.9509A>G (p.Lys3170Arg)
c.9389A>G (p.Lys3130Arg)
c.9320A>G (p.Lys3107Arg)
c.7724A>G (p.Lys2575Arg)
n.9860A>G
6g.51748032T>GCA364420754PKHD1c.9584A>C (p.Lys3195Thr)
c.9455A>C (p.Lys3152Thr)
c.9446A>C (p.Lys3149Thr)
c.8942A>C (p.Lys2981Thr)
c.8873A>C (p.Lys2958Thr)
c.3659A>C (p.Lys1220Thr)
c.9509A>C (p.Lys3170Thr)
c.9389A>C (p.Lys3130Thr)
c.9320A>C (p.Lys3107Thr)
c.7724A>C (p.Lys2575Thr)
n.9860A>C
6g.51748033T>ACA364420756PKHD1c.9583A>T (p.Lys3195Ter)
c.9454A>T (p.Lys3152Ter)
c.9445A>T (p.Lys3149Ter)
c.8941A>T (p.Lys2981Ter)
c.8872A>T (p.Lys2958Ter)
c.3658A>T (p.Lys1220Ter)
c.9508A>T (p.Lys3170Ter)
c.9388A>T (p.Lys3130Ter)
c.9319A>T (p.Lys3107Ter)
c.7723A>T (p.Lys2575Ter)
n.9859A>T
6g.51748033T>CCA364420758PKHD1c.9583A>G (p.Lys3195Glu)
c.9454A>G (p.Lys3152Glu)
c.9445A>G (p.Lys3149Glu)
c.8941A>G (p.Lys2981Glu)
c.8872A>G (p.Lys2958Glu)
c.3658A>G (p.Lys1220Glu)
c.9508A>G (p.Lys3170Glu)
c.9388A>G (p.Lys3130Glu)
c.9319A>G (p.Lys3107Glu)
c.7723A>G (p.Lys2575Glu)
n.9859A>G
 gnomAD v4
6g.51748033T>GCA364420757PKHD1c.9583A>C (p.Lys3195Gln)
c.9454A>C (p.Lys3152Gln)
c.9445A>C (p.Lys3149Gln)
c.8941A>C (p.Lys2981Gln)
c.8872A>C (p.Lys2958Gln)
c.3658A>C (p.Lys1220Gln)
c.9508A>C (p.Lys3170Gln)
c.9388A>C (p.Lys3130Gln)
c.9319A>C (p.Lys3107Gln)
c.7723A>C (p.Lys2575Gln)
n.9859A>C
6g.51748034T>ACA364420759PKHD1c.9582A>T (p.Lys3194Asn)
c.9453A>T (p.Lys3151Asn)
c.9444A>T (p.Lys3148Asn)
c.8940A>T (p.Lys2980Asn)
c.8871A>T (p.Lys2957Asn)
c.3657A>T (p.Lys1219Asn)
c.9507A>T (p.Lys3169Asn)
c.9387A>T (p.Lys3129Asn)
c.9318A>T (p.Lys3106Asn)
c.7722A>T (p.Lys2574Asn)
n.9858A>T
6g.51748034T>CCA450613726PKHD1c.9582A>G (p.Lys3194=)
c.9453A>G (p.Lys3151=)
c.9444A>G (p.Lys3148=)
c.8940A>G (p.Lys2980=)
c.8871A>G (p.Lys2957=)
c.3657A>G (p.Lys1219=)
c.9507A>G (p.Lys3169=)
c.9387A>G (p.Lys3129=)
c.9318A>G (p.Lys3106=)
c.7722A>G (p.Lys2574=)
n.9858A>G
 ClinVar
6g.51748034T>GCA364420760PKHD1c.9582A>C (p.Lys3194Asn)
c.9453A>C (p.Lys3151Asn)
c.9444A>C (p.Lys3148Asn)
c.8940A>C (p.Lys2980Asn)
c.8871A>C (p.Lys2957Asn)
c.3657A>C (p.Lys1219Asn)
c.9507A>C (p.Lys3169Asn)
c.9387A>C (p.Lys3129Asn)
c.9318A>C (p.Lys3106Asn)
c.7722A>C (p.Lys2574Asn)
n.9858A>C
6g.51748035T>ACA364420761PKHD1c.9581A>T (p.Lys3194Ile)
c.9452A>T (p.Lys3151Ile)
c.9443A>T (p.Lys3148Ile)
c.8939A>T (p.Lys2980Ile)
c.8870A>T (p.Lys2957Ile)
c.3656A>T (p.Lys1219Ile)
c.9506A>T (p.Lys3169Ile)
c.9386A>T (p.Lys3129Ile)
c.9317A>T (p.Lys3106Ile)
c.7721A>T (p.Lys2574Ile)
n.9857A>T
6g.51748035T>CCA364420762PKHD1c.9581A>G (p.Lys3194Arg)
c.9452A>G (p.Lys3151Arg)
c.9443A>G (p.Lys3148Arg)
c.8939A>G (p.Lys2980Arg)
c.8870A>G (p.Lys2957Arg)
c.3656A>G (p.Lys1219Arg)
c.9506A>G (p.Lys3169Arg)
c.9386A>G (p.Lys3129Arg)
c.9317A>G (p.Lys3106Arg)
c.7721A>G (p.Lys2574Arg)
n.9857A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51748035T>GCA364420763PKHD1c.9581A>C (p.Lys3194Thr)
c.9452A>C (p.Lys3151Thr)
c.9443A>C (p.Lys3148Thr)
c.8939A>C (p.Lys2980Thr)
c.8870A>C (p.Lys2957Thr)
c.3656A>C (p.Lys1219Thr)
c.9506A>C (p.Lys3169Thr)
c.9386A>C (p.Lys3129Thr)
c.9317A>C (p.Lys3106Thr)
c.7721A>C (p.Lys2574Thr)
n.9857A>C
6g.51748035T=CA1628502348PKHD1c.9581A= (p.Lys3194=)
c.9452A= (p.Lys3151=)
c.9443A= (p.Lys3148=)
c.8939A= (p.Lys2980=)
c.8870A= (p.Lys2957=)
c.3656A= (p.Lys1219=)
c.9506A= (p.Lys3169=)
c.9386A= (p.Lys3129=)
c.9317A= (p.Lys3106=)
c.7721A= (p.Lys2574=)
n.9857A=
6g.51748036T>ACA364420764PKHD1c.9580A>T (p.Lys3194Ter)
c.9451A>T (p.Lys3151Ter)
c.9442A>T (p.Lys3148Ter)
c.8938A>T (p.Lys2980Ter)
c.8869A>T (p.Lys2957Ter)
c.3655A>T (p.Lys1219Ter)
c.9505A>T (p.Lys3169Ter)
c.9385A>T (p.Lys3129Ter)
c.9316A>T (p.Lys3106Ter)
c.7720A>T (p.Lys2574Ter)
n.9856A>T
6g.51748036T>CCA3851367PKHD1c.9580A>G (p.Lys3194Glu)
c.9451A>G (p.Lys3151Glu)
c.9442A>G (p.Lys3148Glu)
c.8938A>G (p.Lys2980Glu)
c.8869A>G (p.Lys2957Glu)
c.3655A>G (p.Lys1219Glu)
c.9505A>G (p.Lys3169Glu)
c.9385A>G (p.Lys3129Glu)
c.9316A>G (p.Lys3106Glu)
c.7720A>G (p.Lys2574Glu)
n.9856A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748036T>GCA364420765PKHD1c.9580A>C (p.Lys3194Gln)
c.9451A>C (p.Lys3151Gln)
c.9442A>C (p.Lys3148Gln)
c.8938A>C (p.Lys2980Gln)
c.8869A>C (p.Lys2957Gln)
c.3655A>C (p.Lys1219Gln)
c.9505A>C (p.Lys3169Gln)
c.9385A>C (p.Lys3129Gln)
c.9316A>C (p.Lys3106Gln)
c.7720A>C (p.Lys2574Gln)
n.9856A>C
6g.51748036T=CA1628502353PKHD1c.9580A= (p.Lys3194=)
c.9451A= (p.Lys3151=)
c.9442A= (p.Lys3148=)
c.8938A= (p.Lys2980=)
c.8869A= (p.Lys2957=)
c.3655A= (p.Lys1219=)
c.9505A= (p.Lys3169=)
c.9385A= (p.Lys3129=)
c.9316A= (p.Lys3106=)
c.7720A= (p.Lys2574=)
n.9856A=
6g.51748037G>ACA450613729PKHD1c.9579C>T (p.Val3193=)
c.9450C>T (p.Val3150=)
c.9441C>T (p.Val3147=)
c.8937C>T (p.Val2979=)
c.8868C>T (p.Val2956=)
c.3654C>T (p.Val1218=)
c.9504C>T (p.Val3168=)
c.9384C>T (p.Val3128=)
c.9315C>T (p.Val3105=)
c.7719C>T (p.Val2573=)
n.9855C>T
6g.51748037G>CCA450613730PKHD1c.9579C>G (p.Val3193=)
c.9450C>G (p.Val3150=)
c.9441C>G (p.Val3147=)
c.8937C>G (p.Val2979=)
c.8868C>G (p.Val2956=)
c.3654C>G (p.Val1218=)
c.9504C>G (p.Val3168=)
c.9384C>G (p.Val3128=)
c.9315C>G (p.Val3105=)
c.7719C>G (p.Val2573=)
n.9855C>G
 gnomAD v4
6g.51748037G>TCA450613732PKHD1c.9579C>A (p.Val3193=)
c.9450C>A (p.Val3150=)
c.9441C>A (p.Val3147=)
c.8937C>A (p.Val2979=)
c.8868C>A (p.Val2956=)
c.3654C>A (p.Val1218=)
c.9504C>A (p.Val3168=)
c.9384C>A (p.Val3128=)
c.9315C>A (p.Val3105=)
c.7719C>A (p.Val2573=)
n.9855C>A
6g.51748038A>CCA364420766PKHD1c.9578T>G (p.Val3193Gly)
c.9449T>G (p.Val3150Gly)
c.9440T>G (p.Val3147Gly)
c.8936T>G (p.Val2979Gly)
c.8867T>G (p.Val2956Gly)
c.3653T>G (p.Val1218Gly)
c.9503T>G (p.Val3168Gly)
c.9383T>G (p.Val3128Gly)
c.9314T>G (p.Val3105Gly)
c.7718T>G (p.Val2573Gly)
n.9854T>G
6g.51748038A>GCA364420767PKHD1c.9578T>C (p.Val3193Ala)
c.9449T>C (p.Val3150Ala)
c.9440T>C (p.Val3147Ala)
c.8936T>C (p.Val2979Ala)
c.8867T>C (p.Val2956Ala)
c.3653T>C (p.Val1218Ala)
c.9503T>C (p.Val3168Ala)
c.9383T>C (p.Val3128Ala)
c.9314T>C (p.Val3105Ala)
c.7718T>C (p.Val2573Ala)
n.9854T>C
6g.51748038A>TCA364420768PKHD1c.9578T>A (p.Val3193Asp)
c.9449T>A (p.Val3150Asp)
c.9440T>A (p.Val3147Asp)
c.8936T>A (p.Val2979Asp)
c.8867T>A (p.Val2956Asp)
c.3653T>A (p.Val1218Asp)
c.9503T>A (p.Val3168Asp)
c.9383T>A (p.Val3128Asp)
c.9314T>A (p.Val3105Asp)
c.7718T>A (p.Val2573Asp)
n.9854T>A
6g.51748039C>ACA364420770PKHD1c.9577G>T (p.Val3193Phe)
c.9448G>T (p.Val3150Phe)
c.9439G>T (p.Val3147Phe)
c.8935G>T (p.Val2979Phe)
c.8866G>T (p.Val2956Phe)
c.3652G>T (p.Val1218Phe)
c.9502G>T (p.Val3168Phe)
c.9382G>T (p.Val3128Phe)
c.9313G>T (p.Val3105Phe)
c.7717G>T (p.Val2573Phe)
n.9853G>T
6g.51748039C=CA1628502359PKHD1c.9577G= (p.Val3193=)
c.9448G= (p.Val3150=)
c.9439G= (p.Val3147=)
c.8935G= (p.Val2979=)
c.8866G= (p.Val2956=)
c.3652G= (p.Val1218=)
c.9502G= (p.Val3168=)
c.9382G= (p.Val3128=)
c.9313G= (p.Val3105=)
c.7717G= (p.Val2573=)
n.9853G=
6g.51748039C>GCA364420769PKHD1c.9577G>C (p.Val3193Leu)
c.9448G>C (p.Val3150Leu)
c.9439G>C (p.Val3147Leu)
c.8935G>C (p.Val2979Leu)
c.8866G>C (p.Val2956Leu)
c.3652G>C (p.Val1218Leu)
c.9502G>C (p.Val3168Leu)
c.9382G>C (p.Val3128Leu)
c.9313G>C (p.Val3105Leu)
c.7717G>C (p.Val2573Leu)
n.9853G>C
6g.51748039C>TCA348314PKHD1c.9577G>A (p.Val3193Ile)
c.9448G>A (p.Val3150Ile)
c.9439G>A (p.Val3147Ile)
c.8935G>A (p.Val2979Ile)
c.8866G>A (p.Val2956Ile)
c.3652G>A (p.Val1218Ile)
c.9502G>A (p.Val3168Ile)
c.9382G>A (p.Val3128Ile)
c.9313G>A (p.Val3105Ile)
c.7717G>A (p.Val2573Ile)
n.9853G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51748040G>ACA3851368PKHD1c.9576C>T (p.Ser3192=)
c.9447C>T (p.Ser3149=)
c.9438C>T (p.Ser3146=)
c.8934C>T (p.Ser2978=)
c.8865C>T (p.Ser2955=)
c.3651C>T (p.Ser1217=)
c.9501C>T (p.Ser3167=)
c.9381C>T (p.Ser3127=)
c.9312C>T (p.Ser3104=)
c.7716C>T (p.Ser2572=)
n.9852C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748040G>CCA450613736PKHD1c.9576C>G (p.Ser3192=)
c.9447C>G (p.Ser3149=)
c.9438C>G (p.Ser3146=)
c.8934C>G (p.Ser2978=)
c.8865C>G (p.Ser2955=)
c.3651C>G (p.Ser1217=)
c.9501C>G (p.Ser3167=)
c.9381C>G (p.Ser3127=)
c.9312C>G (p.Ser3104=)
c.7716C>G (p.Ser2572=)
n.9852C>G
 COSMIC
6g.51748040G=CA1628502368PKHD1c.9576C= (p.Ser3192=)
c.9447C= (p.Ser3149=)
c.9438C= (p.Ser3146=)
c.8934C= (p.Ser2978=)
c.8865C= (p.Ser2955=)
c.3651C= (p.Ser1217=)
c.9501C= (p.Ser3167=)
c.9381C= (p.Ser3127=)
c.9312C= (p.Ser3104=)
c.7716C= (p.Ser2572=)
n.9852C=
6g.51748040G>TCA450613738PKHD1c.9576C>A (p.Ser3192=)
c.9447C>A (p.Ser3149=)
c.9438C>A (p.Ser3146=)
c.8934C>A (p.Ser2978=)
c.8865C>A (p.Ser2955=)
c.3651C>A (p.Ser1217=)
c.9501C>A (p.Ser3167=)
c.9381C>A (p.Ser3127=)
c.9312C>A (p.Ser3104=)
c.7716C>A (p.Ser2572=)
n.9852C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748041dupCA2695206426PKHD1c.9576dup (p.Val3193ArgfsTer9)
c.9447dup (p.Val3150ArgfsTer9)
c.9438dup (p.Val3147ArgfsTer9)
c.8934dup (p.Val2979ArgfsTer9)
c.8865dup (p.Val2956ArgfsTer9)
c.3651dup (p.Val1218ArgfsTer9)
c.9501dup (p.Val3168ArgfsTer9)
c.9381dup (p.Val3128ArgfsTer9)
c.9312dup (p.Val3105ArgfsTer9)
c.7716dup (p.Val2573ArgfsTer9)
n.9852dup
6g.51748041G>ACA138896033PKHD1c.9575C>T (p.Ser3192Phe)
c.9446C>T (p.Ser3149Phe)
c.9437C>T (p.Ser3146Phe)
c.8933C>T (p.Ser2978Phe)
c.8864C>T (p.Ser2955Phe)
c.3650C>T (p.Ser1217Phe)
c.9500C>T (p.Ser3167Phe)
c.9380C>T (p.Ser3127Phe)
c.9311C>T (p.Ser3104Phe)
c.7715C>T (p.Ser2572Phe)
n.9851C>T
 dbSNP
6g.51748041G>CCA364420771PKHD1c.9575C>G (p.Ser3192Cys)
c.9446C>G (p.Ser3149Cys)
c.9437C>G (p.Ser3146Cys)
c.8933C>G (p.Ser2978Cys)
c.8864C>G (p.Ser2955Cys)
c.3650C>G (p.Ser1217Cys)
c.9500C>G (p.Ser3167Cys)
c.9380C>G (p.Ser3127Cys)
c.9311C>G (p.Ser3104Cys)
c.7715C>G (p.Ser2572Cys)
n.9851C>G
6g.51748041G=CA1628502376PKHD1c.9575C= (p.Ser3192=)
c.9446C= (p.Ser3149=)
c.9437C= (p.Ser3146=)
c.8933C= (p.Ser2978=)
c.8864C= (p.Ser2955=)
c.3650C= (p.Ser1217=)
c.9500C= (p.Ser3167=)
c.9380C= (p.Ser3127=)
c.9311C= (p.Ser3104=)
c.7715C= (p.Ser2572=)
n.9851C=
6g.51748041G>TCA364420772PKHD1c.9575C>A (p.Ser3192Tyr)
c.9446C>A (p.Ser3149Tyr)
c.9437C>A (p.Ser3146Tyr)
c.8933C>A (p.Ser2978Tyr)
c.8864C>A (p.Ser2955Tyr)
c.3650C>A (p.Ser1217Tyr)
c.9500C>A (p.Ser3167Tyr)
c.9380C>A (p.Ser3127Tyr)
c.9311C>A (p.Ser3104Tyr)
c.7715C>A (p.Ser2572Tyr)
n.9851C>A
 COSMIC COSMIC
6g.51748042A>CCA364420773PKHD1c.9574T>G (p.Ser3192Ala)
c.9445T>G (p.Ser3149Ala)
c.9436T>G (p.Ser3146Ala)
c.8932T>G (p.Ser2978Ala)
c.8863T>G (p.Ser2955Ala)
c.3649T>G (p.Ser1217Ala)
c.9499T>G (p.Ser3167Ala)
c.9379T>G (p.Ser3127Ala)
c.9310T>G (p.Ser3104Ala)
c.7714T>G (p.Ser2572Ala)
n.9850T>G
6g.51748042A>GCA364420774PKHD1c.9574T>C (p.Ser3192Pro)
c.9445T>C (p.Ser3149Pro)
c.9436T>C (p.Ser3146Pro)
c.8932T>C (p.Ser2978Pro)
c.8863T>C (p.Ser2955Pro)
c.3649T>C (p.Ser1217Pro)
c.9499T>C (p.Ser3167Pro)
c.9379T>C (p.Ser3127Pro)
c.9310T>C (p.Ser3104Pro)
c.7714T>C (p.Ser2572Pro)
n.9850T>C
6g.51748042A>TCA364420775PKHD1c.9574T>A (p.Ser3192Thr)
c.9445T>A (p.Ser3149Thr)
c.9436T>A (p.Ser3146Thr)
c.8932T>A (p.Ser2978Thr)
c.8863T>A (p.Ser2955Thr)
c.3649T>A (p.Ser1217Thr)
c.9499T>A (p.Ser3167Thr)
c.9379T>A (p.Ser3127Thr)
c.9310T>A (p.Ser3104Thr)
c.7714T>A (p.Ser2572Thr)
n.9850T>A
6g.51748043A>CCA364420776PKHD1c.9573T>G (p.Asn3191Lys)
c.9444T>G (p.Asn3148Lys)
c.9435T>G (p.Asn3145Lys)
c.8931T>G (p.Asn2977Lys)
c.8862T>G (p.Asn2954Lys)
c.3648T>G (p.Asn1216Lys)
c.9498T>G (p.Asn3166Lys)
c.9378T>G (p.Asn3126Lys)
c.9309T>G (p.Asn3103Lys)
c.7713T>G (p.Asn2571Lys)
n.9849T>G
6g.51748043A>GCA450613745PKHD1c.9573T>C (p.Asn3191=)
c.9444T>C (p.Asn3148=)
c.9435T>C (p.Asn3145=)
c.8931T>C (p.Asn2977=)
c.8862T>C (p.Asn2954=)
c.3648T>C (p.Asn1216=)
c.9498T>C (p.Asn3166=)
c.9378T>C (p.Asn3126=)
c.9309T>C (p.Asn3103=)
c.7713T>C (p.Asn2571=)
n.9849T>C
 dbSNP
6g.51748043A>TCA364420777PKHD1c.9573T>A (p.Asn3191Lys)
c.9444T>A (p.Asn3148Lys)
c.9435T>A (p.Asn3145Lys)
c.8931T>A (p.Asn2977Lys)
c.8862T>A (p.Asn2954Lys)
c.3648T>A (p.Asn1216Lys)
c.9498T>A (p.Asn3166Lys)
c.9378T>A (p.Asn3126Lys)
c.9309T>A (p.Asn3103Lys)
c.7713T>A (p.Asn2571Lys)
n.9849T>A
6g.51748044T>ACA364420778PKHD1c.9572A>T (p.Asn3191Ile)
c.9443A>T (p.Asn3148Ile)
c.9434A>T (p.Asn3145Ile)
c.8930A>T (p.Asn2977Ile)
c.8861A>T (p.Asn2954Ile)
c.3647A>T (p.Asn1216Ile)
c.9497A>T (p.Asn3166Ile)
c.9377A>T (p.Asn3126Ile)
c.9308A>T (p.Asn3103Ile)
c.7712A>T (p.Asn2571Ile)
n.9848A>T
6g.51748044T>CCA364420779PKHD1c.9572A>G (p.Asn3191Ser)
c.9443A>G (p.Asn3148Ser)
c.9434A>G (p.Asn3145Ser)
c.8930A>G (p.Asn2977Ser)
c.8861A>G (p.Asn2954Ser)
c.3647A>G (p.Asn1216Ser)
c.9497A>G (p.Asn3166Ser)
c.9377A>G (p.Asn3126Ser)
c.9308A>G (p.Asn3103Ser)
c.7712A>G (p.Asn2571Ser)
n.9848A>G
 dbSNP
6g.51748044T>GCA364420780PKHD1c.9572A>C (p.Asn3191Thr)
c.9443A>C (p.Asn3148Thr)
c.9434A>C (p.Asn3145Thr)
c.8930A>C (p.Asn2977Thr)
c.8861A>C (p.Asn2954Thr)
c.3647A>C (p.Asn1216Thr)
c.9497A>C (p.Asn3166Thr)
c.9377A>C (p.Asn3126Thr)
c.9308A>C (p.Asn3103Thr)
c.7712A>C (p.Asn2571Thr)
n.9848A>C
6g.51748045T>ACA364420782PKHD1c.9571A>T (p.Asn3191Tyr)
c.9442A>T (p.Asn3148Tyr)
c.9433A>T (p.Asn3145Tyr)
c.8929A>T (p.Asn2977Tyr)
c.8860A>T (p.Asn2954Tyr)
c.3646A>T (p.Asn1216Tyr)
c.9496A>T (p.Asn3166Tyr)
c.9376A>T (p.Asn3126Tyr)
c.9307A>T (p.Asn3103Tyr)
c.7711A>T (p.Asn2571Tyr)
n.9847A>T
6g.51748045T>CCA364420781PKHD1c.9571A>G (p.Asn3191Asp)
c.9442A>G (p.Asn3148Asp)
c.9433A>G (p.Asn3145Asp)
c.8929A>G (p.Asn2977Asp)
c.8860A>G (p.Asn2954Asp)
c.3646A>G (p.Asn1216Asp)
c.9496A>G (p.Asn3166Asp)
c.9376A>G (p.Asn3126Asp)
c.9307A>G (p.Asn3103Asp)
c.7711A>G (p.Asn2571Asp)
n.9847A>G
6g.51748045T>GCA3851369PKHD1c.9571A>C (p.Asn3191His)
c.9442A>C (p.Asn3148His)
c.9433A>C (p.Asn3145His)
c.8929A>C (p.Asn2977His)
c.8860A>C (p.Asn2954His)
c.3646A>C (p.Asn1216His)
c.9496A>C (p.Asn3166His)
c.9376A>C (p.Asn3126His)
c.9307A>C (p.Asn3103His)
c.7711A>C (p.Asn2571His)
n.9847A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748045T=CA1628502383PKHD1c.9571A= (p.Asn3191=)
c.9442A= (p.Asn3148=)
c.9433A= (p.Asn3145=)
c.8929A= (p.Asn2977=)
c.8860A= (p.Asn2954=)
c.3646A= (p.Asn1216=)
c.9496A= (p.Asn3166=)
c.9376A= (p.Asn3126=)
c.9307A= (p.Asn3103=)
c.7711A= (p.Asn2571=)
n.9847A=
6g.51748046T>ACA364420784PKHD1c.9570A>T (p.Gln3190His)
c.9441A>T (p.Gln3147His)
c.9432A>T (p.Gln3144His)
c.8928A>T (p.Gln2976His)
c.8859A>T (p.Gln2953His)
c.3645A>T (p.Gln1215His)
c.9495A>T (p.Gln3165His)
c.9375A>T (p.Gln3125His)
c.9306A>T (p.Gln3102His)
c.7710A>T (p.Gln2570His)
n.9846A>T
 gnomAD v4
6g.51748046T>CCA450613366PKHD1c.9570A>G (p.Gln3190=)
c.9441A>G (p.Gln3147=)
c.9432A>G (p.Gln3144=)
c.8928A>G (p.Gln2976=)
c.8859A>G (p.Gln2953=)
c.3645A>G (p.Gln1215=)
c.9495A>G (p.Gln3165=)
c.9375A>G (p.Gln3125=)
c.9306A>G (p.Gln3102=)
c.7710A>G (p.Gln2570=)
n.9846A>G
6g.51748046T>GCA364420783PKHD1c.9570A>C (p.Gln3190His)
c.9441A>C (p.Gln3147His)
c.9432A>C (p.Gln3144His)
c.8928A>C (p.Gln2976His)
c.8859A>C (p.Gln2953His)
c.3645A>C (p.Gln1215His)
c.9495A>C (p.Gln3165His)
c.9375A>C (p.Gln3125His)
c.9306A>C (p.Gln3102His)
c.7710A>C (p.Gln2570His)
n.9846A>C
6g.51748046_51748047insAACACCA2512744512PKHD1c.9569_9570insGTGTT (p.Asn3191CysfsTer2)
c.9440_9441insGTGTT (p.Asn3148CysfsTer2)
c.9431_9432insGTGTT (p.Asn3145CysfsTer2)
c.8927_8928insGTGTT (p.Asn2977CysfsTer2)
c.8858_8859insGTGTT (p.Asn2954CysfsTer2)
c.3644_3645insGTGTT (p.Asn1216CysfsTer2)
c.9494_9495insGTGTT (p.Asn3166CysfsTer2)
c.9374_9375insGTGTT (p.Asn3126CysfsTer2)
c.9305_9306insGTGTT (p.Asn3103CysfsTer2)
c.7709_7710insGTGTT (p.Asn2571CysfsTer2)
n.9845_9846insGTGTT
6g.51748047T>ACA364420785PKHD1c.9569A>T (p.Gln3190Leu)
c.9440A>T (p.Gln3147Leu)
c.9431A>T (p.Gln3144Leu)
c.8927A>T (p.Gln2976Leu)
c.8858A>T (p.Gln2953Leu)
c.3644A>T (p.Gln1215Leu)
c.9494A>T (p.Gln3165Leu)
c.9374A>T (p.Gln3125Leu)
c.9305A>T (p.Gln3102Leu)
c.7709A>T (p.Gln2570Leu)
n.9845A>T
6g.51748047T>CCA364420786PKHD1c.9569A>G (p.Gln3190Arg)
c.9440A>G (p.Gln3147Arg)
c.9431A>G (p.Gln3144Arg)
c.8927A>G (p.Gln2976Arg)
c.8858A>G (p.Gln2953Arg)
c.3644A>G (p.Gln1215Arg)
c.9494A>G (p.Gln3165Arg)
c.9374A>G (p.Gln3125Arg)
c.9305A>G (p.Gln3102Arg)
c.7709A>G (p.Gln2570Arg)
n.9845A>G
6g.51748047T>GCA364420787PKHD1c.9569A>C (p.Gln3190Pro)
c.9440A>C (p.Gln3147Pro)
c.9431A>C (p.Gln3144Pro)
c.8927A>C (p.Gln2976Pro)
c.8858A>C (p.Gln2953Pro)
c.3644A>C (p.Gln1215Pro)
c.9494A>C (p.Gln3165Pro)
c.9374A>C (p.Gln3125Pro)
c.9305A>C (p.Gln3102Pro)
c.7709A>C (p.Gln2570Pro)
n.9845A>C
6g.51748048G>ACA364420788PKHD1c.9568C>T (p.Gln3190Ter)
c.9439C>T (p.Gln3147Ter)
c.9430C>T (p.Gln3144Ter)
c.8926C>T (p.Gln2976Ter)
c.8857C>T (p.Gln2953Ter)
c.3643C>T (p.Gln1215Ter)
c.9493C>T (p.Gln3165Ter)
c.9373C>T (p.Gln3125Ter)
c.9304C>T (p.Gln3102Ter)
c.7708C>T (p.Gln2570Ter)
n.9844C>T
 ClinVar
6g.51748048G>CCA364420789PKHD1c.9568C>G (p.Gln3190Glu)
c.9439C>G (p.Gln3147Glu)
c.9430C>G (p.Gln3144Glu)
c.8926C>G (p.Gln2976Glu)
c.8857C>G (p.Gln2953Glu)
c.3643C>G (p.Gln1215Glu)
c.9493C>G (p.Gln3165Glu)
c.9373C>G (p.Gln3125Glu)
c.9304C>G (p.Gln3102Glu)
c.7708C>G (p.Gln2570Glu)
n.9844C>G
6g.51748048G>TCA364420790PKHD1c.9568C>A (p.Gln3190Lys)
c.9439C>A (p.Gln3147Lys)
c.9430C>A (p.Gln3144Lys)
c.8926C>A (p.Gln2976Lys)
c.8857C>A (p.Gln2953Lys)
c.3643C>A (p.Gln1215Lys)
c.9493C>A (p.Gln3165Lys)
c.9373C>A (p.Gln3125Lys)
c.9304C>A (p.Gln3102Lys)
c.7708C>A (p.Gln2570Lys)
n.9844C>A
6g.51748049T>ACA450613373PKHD1c.9567A>T (p.Pro3189=)
c.9438A>T (p.Pro3146=)
c.9429A>T (p.Pro3143=)
c.8925A>T (p.Pro2975=)
c.8856A>T (p.Pro2952=)
c.3642A>T (p.Pro1214=)
c.9492A>T (p.Pro3164=)
c.9372A>T (p.Pro3124=)
c.9303A>T (p.Pro3101=)
c.7707A>T (p.Pro2569=)
n.9843A>T
 ClinVar
6g.51748049T>CCA450613368PKHD1c.9567A>G (p.Pro3189=)
c.9438A>G (p.Pro3146=)
c.9429A>G (p.Pro3143=)
c.8925A>G (p.Pro2975=)
c.8856A>G (p.Pro2952=)
c.3642A>G (p.Pro1214=)
c.9492A>G (p.Pro3164=)
c.9372A>G (p.Pro3124=)
c.9303A>G (p.Pro3101=)
c.7707A>G (p.Pro2569=)
n.9843A>G
6g.51748049T>GCA450613369PKHD1c.9567A>C (p.Pro3189=)
c.9438A>C (p.Pro3146=)
c.9429A>C (p.Pro3143=)
c.8925A>C (p.Pro2975=)
c.8856A>C (p.Pro2952=)
c.3642A>C (p.Pro1214=)
c.9492A>C (p.Pro3164=)
c.9372A>C (p.Pro3124=)
c.9303A>C (p.Pro3101=)
c.7707A>C (p.Pro2569=)
n.9843A>C
6g.51748050G>ACA364420791PKHD1c.9566C>T (p.Pro3189Leu)
c.9437C>T (p.Pro3146Leu)
c.9428C>T (p.Pro3143Leu)
c.8924C>T (p.Pro2975Leu)
c.8855C>T (p.Pro2952Leu)
c.3641C>T (p.Pro1214Leu)
c.9491C>T (p.Pro3164Leu)
c.9371C>T (p.Pro3124Leu)
c.9302C>T (p.Pro3101Leu)
c.7706C>T (p.Pro2569Leu)
n.9842C>T
6g.51748050G>CCA364420792PKHD1c.9566C>G (p.Pro3189Arg)
c.9437C>G (p.Pro3146Arg)
c.9428C>G (p.Pro3143Arg)
c.8924C>G (p.Pro2975Arg)
c.8855C>G (p.Pro2952Arg)
c.3641C>G (p.Pro1214Arg)
c.9491C>G (p.Pro3164Arg)
c.9371C>G (p.Pro3124Arg)
c.9302C>G (p.Pro3101Arg)
c.7706C>G (p.Pro2569Arg)
n.9842C>G
6g.51748050G>TCA364420793PKHD1c.9566C>A (p.Pro3189Gln)
c.9437C>A (p.Pro3146Gln)
c.9428C>A (p.Pro3143Gln)
c.8924C>A (p.Pro2975Gln)
c.8855C>A (p.Pro2952Gln)
c.3641C>A (p.Pro1214Gln)
c.9491C>A (p.Pro3164Gln)
c.9371C>A (p.Pro3124Gln)
c.9302C>A (p.Pro3101Gln)
c.7706C>A (p.Pro2569Gln)
n.9842C>A
6g.51748051G>ACA364420794PKHD1c.9565C>T (p.Pro3189Ser)
c.9436C>T (p.Pro3146Ser)
c.9427C>T (p.Pro3143Ser)
c.8923C>T (p.Pro2975Ser)
c.8854C>T (p.Pro2952Ser)
c.3640C>T (p.Pro1214Ser)
c.9490C>T (p.Pro3164Ser)
c.9370C>T (p.Pro3124Ser)
c.9301C>T (p.Pro3101Ser)
c.7705C>T (p.Pro2569Ser)
n.9841C>T
6g.51748051G>CCA364420795PKHD1c.9565C>G (p.Pro3189Ala)
c.9436C>G (p.Pro3146Ala)
c.9427C>G (p.Pro3143Ala)
c.8923C>G (p.Pro2975Ala)
c.8854C>G (p.Pro2952Ala)
c.3640C>G (p.Pro1214Ala)
c.9490C>G (p.Pro3164Ala)
c.9370C>G (p.Pro3124Ala)
c.9301C>G (p.Pro3101Ala)
c.7705C>G (p.Pro2569Ala)
n.9841C>G
6g.51748051G>TCA364420796PKHD1c.9565C>A (p.Pro3189Thr)
c.9436C>A (p.Pro3146Thr)
c.9427C>A (p.Pro3143Thr)
c.8923C>A (p.Pro2975Thr)
c.8854C>A (p.Pro2952Thr)
c.3640C>A (p.Pro1214Thr)
c.9490C>A (p.Pro3164Thr)
c.9370C>A (p.Pro3124Thr)
c.9301C>A (p.Pro3101Thr)
c.7705C>A (p.Pro2569Thr)
n.9841C>A
6g.51748052A>CCA450613376PKHD1c.9564T>G (p.Ala3188=)
c.9435T>G (p.Ala3145=)
c.9426T>G (p.Ala3142=)
c.8922T>G (p.Ala2974=)
c.8853T>G (p.Ala2951=)
c.3639T>G (p.Ala1213=)
c.9489T>G (p.Ala3163=)
c.9369T>G (p.Ala3123=)
c.9300T>G (p.Ala3100=)
c.7704T>G (p.Ala2568=)
n.9840T>G
6g.51748052A>GCA450613378PKHD1c.9564T>C (p.Ala3188=)
c.9435T>C (p.Ala3145=)
c.9426T>C (p.Ala3142=)
c.8922T>C (p.Ala2974=)
c.8853T>C (p.Ala2951=)
c.3639T>C (p.Ala1213=)
c.9489T>C (p.Ala3163=)
c.9369T>C (p.Ala3123=)
c.9300T>C (p.Ala3100=)
c.7704T>C (p.Ala2568=)
n.9840T>C
6g.51748052A>TCA450613377PKHD1c.9564T>A (p.Ala3188=)
c.9435T>A (p.Ala3145=)
c.9426T>A (p.Ala3142=)
c.8922T>A (p.Ala2974=)
c.8853T>A (p.Ala2951=)
c.3639T>A (p.Ala1213=)
c.9489T>A (p.Ala3163=)
c.9369T>A (p.Ala3123=)
c.9300T>A (p.Ala3100=)
c.7704T>A (p.Ala2568=)
n.9840T>A
6g.51748053G>ACA3851370PKHD1c.9563C>T (p.Ala3188Val)
c.9434C>T (p.Ala3145Val)
c.9425C>T (p.Ala3142Val)
c.8921C>T (p.Ala2974Val)
c.8852C>T (p.Ala2951Val)
c.3638C>T (p.Ala1213Val)
c.9488C>T (p.Ala3163Val)
c.9368C>T (p.Ala3123Val)
c.9299C>T (p.Ala3100Val)
c.7703C>T (p.Ala2568Val)
n.9839C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748053G>CCA364420797PKHD1c.9563C>G (p.Ala3188Gly)
c.9434C>G (p.Ala3145Gly)
c.9425C>G (p.Ala3142Gly)
c.8921C>G (p.Ala2974Gly)
c.8852C>G (p.Ala2951Gly)
c.3638C>G (p.Ala1213Gly)
c.9488C>G (p.Ala3163Gly)
c.9368C>G (p.Ala3123Gly)
c.9299C>G (p.Ala3100Gly)
c.7703C>G (p.Ala2568Gly)
n.9839C>G
6g.51748053G=CA1628502388PKHD1c.9563C= (p.Ala3188=)
c.9434C= (p.Ala3145=)
c.9425C= (p.Ala3142=)
c.8921C= (p.Ala2974=)
c.8852C= (p.Ala2951=)
c.3638C= (p.Ala1213=)
c.9488C= (p.Ala3163=)
c.9368C= (p.Ala3123=)
c.9299C= (p.Ala3100=)
c.7703C= (p.Ala2568=)
n.9839C=
6g.51748053G>TCA364420798PKHD1c.9563C>A (p.Ala3188Asp)
c.9434C>A (p.Ala3145Asp)
c.9425C>A (p.Ala3142Asp)
c.8921C>A (p.Ala2974Asp)
c.8852C>A (p.Ala2951Asp)
c.3638C>A (p.Ala1213Asp)
c.9488C>A (p.Ala3163Asp)
c.9368C>A (p.Ala3123Asp)
c.9299C>A (p.Ala3100Asp)
c.7703C>A (p.Ala2568Asp)
n.9839C>A
6g.51748054C>ACA138896039PKHD1c.9562G>T (p.Ala3188Ser)
c.9433G>T (p.Ala3145Ser)
c.9424G>T (p.Ala3142Ser)
c.8920G>T (p.Ala2974Ser)
c.8851G>T (p.Ala2951Ser)
c.3637G>T (p.Ala1213Ser)
c.9487G>T (p.Ala3163Ser)
c.9367G>T (p.Ala3123Ser)
c.9298G>T (p.Ala3100Ser)
c.7702G>T (p.Ala2568Ser)
n.9838G>T
 dbSNP COSMIC COSMIC
6g.51748054C=CA1628502391PKHD1c.9562G= (p.Ala3188=)
c.9433G= (p.Ala3145=)
c.9424G= (p.Ala3142=)
c.8920G= (p.Ala2974=)
c.8851G= (p.Ala2951=)
c.3637G= (p.Ala1213=)
c.9487G= (p.Ala3163=)
c.9367G= (p.Ala3123=)
c.9298G= (p.Ala3100=)
c.7702G= (p.Ala2568=)
n.9838G=
6g.51748054C>GCA3851371PKHD1c.9562G>C (p.Ala3188Pro)
c.9433G>C (p.Ala3145Pro)
c.9424G>C (p.Ala3142Pro)
c.8920G>C (p.Ala2974Pro)
c.8851G>C (p.Ala2951Pro)
c.3637G>C (p.Ala1213Pro)
c.9487G>C (p.Ala3163Pro)
c.9367G>C (p.Ala3123Pro)
c.9298G>C (p.Ala3100Pro)
c.7702G>C (p.Ala2568Pro)
n.9838G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748054C>TCA3851372PKHD1c.9562G>A (p.Ala3188Thr)
c.9433G>A (p.Ala3145Thr)
c.9424G>A (p.Ala3142Thr)
c.8920G>A (p.Ala2974Thr)
c.8851G>A (p.Ala2951Thr)
c.3637G>A (p.Ala1213Thr)
c.9487G>A (p.Ala3163Thr)
c.9367G>A (p.Ala3123Thr)
c.9298G>A (p.Ala3100Thr)
c.7702G>A (p.Ala2568Thr)
n.9838G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748055A=CA1628502394PKHD1c.9561T= (p.Ser3187=)
c.9432T= (p.Ser3144=)
c.9423T= (p.Ser3141=)
c.8919T= (p.Ser2973=)
c.8850T= (p.Ser2950=)
c.3636T= (p.Ser1212=)
c.9486T= (p.Ser3162=)
c.9366T= (p.Ser3122=)
c.9297T= (p.Ser3099=)
c.7701T= (p.Ser2567=)
n.9837T=
6g.51748055A>CCA450613380PKHD1c.9561T>G (p.Ser3187=)
c.9432T>G (p.Ser3144=)
c.9423T>G (p.Ser3141=)
c.8919T>G (p.Ser2973=)
c.8850T>G (p.Ser2950=)
c.3636T>G (p.Ser1212=)
c.9486T>G (p.Ser3162=)
c.9366T>G (p.Ser3122=)
c.9297T>G (p.Ser3099=)
c.7701T>G (p.Ser2567=)
n.9837T>G
6g.51748055A>GCA450613381PKHD1c.9561T>C (p.Ser3187=)
c.9432T>C (p.Ser3144=)
c.9423T>C (p.Ser3141=)
c.8919T>C (p.Ser2973=)
c.8850T>C (p.Ser2950=)
c.3636T>C (p.Ser1212=)
c.9486T>C (p.Ser3162=)
c.9366T>C (p.Ser3122=)
c.9297T>C (p.Ser3099=)
c.7701T>C (p.Ser2567=)
n.9837T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748055A>TCA450613384PKHD1c.9561T>A (p.Ser3187=)
c.9432T>A (p.Ser3144=)
c.9423T>A (p.Ser3141=)
c.8919T>A (p.Ser2973=)
c.8850T>A (p.Ser2950=)
c.3636T>A (p.Ser1212=)
c.9486T>A (p.Ser3162=)
c.9366T>A (p.Ser3122=)
c.9297T>A (p.Ser3099=)
c.7701T>A (p.Ser2567=)
n.9837T>A
6g.51748055_51748056delinsAGCA1628502396PKHD1c.9560_9561delinsCT (p.Ser3187=)
c.9431_9432delinsCT (p.Ser3144=)
c.9422_9423delinsCT (p.Ser3141=)
c.8918_8919delinsCT (p.Ser2973=)
c.8849_8850delinsCT (p.Ser2950=)
c.3635_3636delinsCT (p.Ser1212=)
c.9485_9486delinsCT (p.Ser3162=)
c.9365_9366delinsCT (p.Ser3122=)
c.9296_9297delinsCT (p.Ser3099=)
c.7700_7701delinsCT (p.Ser2567=)
n.9836_9837delinsCT
6g.51748056delCA891862705PKHD1c.9560del (p.Ser3187LeufsTer?)
c.9431del (p.Ser3144LeufsTer?)
c.9422del (p.Ser3141LeufsTer?)
c.8918del (p.Ser2973LeufsTer?)
c.8849del (p.Ser2950LeufsTer?)
c.3635del (p.Ser1212LeufsTer?)
c.9485del (p.Ser3162LeufsTer?)
c.9365del (p.Ser3122LeufsTer?)
c.9296del (p.Ser3099LeufsTer?)
c.7700del (p.Ser2567LeufsTer?)
n.9836del
 ClinVar dbSNP
6g.51748056G>ACA364420799PKHD1c.9560C>T (p.Ser3187Phe)
c.9431C>T (p.Ser3144Phe)
c.9422C>T (p.Ser3141Phe)
c.8918C>T (p.Ser2973Phe)
c.8849C>T (p.Ser2950Phe)
c.3635C>T (p.Ser1212Phe)
c.9485C>T (p.Ser3162Phe)
c.9365C>T (p.Ser3122Phe)
c.9296C>T (p.Ser3099Phe)
c.7700C>T (p.Ser2567Phe)
n.9836C>T
6g.51748056G>CCA364420800PKHD1c.9560C>G (p.Ser3187Cys)
c.9431C>G (p.Ser3144Cys)
c.9422C>G (p.Ser3141Cys)
c.8918C>G (p.Ser2973Cys)
c.8849C>G (p.Ser2950Cys)
c.3635C>G (p.Ser1212Cys)
c.9485C>G (p.Ser3162Cys)
c.9365C>G (p.Ser3122Cys)
c.9296C>G (p.Ser3099Cys)
c.7700C>G (p.Ser2567Cys)
n.9836C>G
 gnomAD v4
6g.51748056G=CA1628502407PKHD1c.9560C= (p.Ser3187=)
c.9431C= (p.Ser3144=)
c.9422C= (p.Ser3141=)
c.8918C= (p.Ser2973=)
c.8849C= (p.Ser2950=)
c.3635C= (p.Ser1212=)
c.9485C= (p.Ser3162=)
c.9365C= (p.Ser3122=)
c.9296C= (p.Ser3099=)
c.7700C= (p.Ser2567=)
n.9836C=
6g.51748056G>TCA138896065PKHD1c.9560C>A (p.Ser3187Tyr)
c.9431C>A (p.Ser3144Tyr)
c.9422C>A (p.Ser3141Tyr)
c.8918C>A (p.Ser2973Tyr)
c.8849C>A (p.Ser2950Tyr)
c.3635C>A (p.Ser1212Tyr)
c.9485C>A (p.Ser3162Tyr)
c.9365C>A (p.Ser3122Tyr)
c.9296C>A (p.Ser3099Tyr)
c.7700C>A (p.Ser2567Tyr)
n.9836C>A
 dbSNP gnomAD v3 COSMIC COSMIC
6g.51748056_51748057delinsGACA1628502406PKHD1c.9559_9560delinsTC (p.Ser3187=)
c.9430_9431delinsTC (p.Ser3144=)
c.9421_9422delinsTC (p.Ser3141=)
c.8917_8918delinsTC (p.Ser2973=)
c.8848_8849delinsTC (p.Ser2950=)
c.3634_3635delinsTC (p.Ser1212=)
c.9484_9485delinsTC (p.Ser3162=)
c.9364_9365delinsTC (p.Ser3122=)
c.9295_9296delinsTC (p.Ser3099=)
c.7699_7700delinsTC (p.Ser2567=)
n.9835_9836delinsTC
6g.51748057A>CCA364420801PKHD1c.9559T>G (p.Ser3187Ala)
c.9430T>G (p.Ser3144Ala)
c.9421T>G (p.Ser3141Ala)
c.8917T>G (p.Ser2973Ala)
c.8848T>G (p.Ser2950Ala)
c.3634T>G (p.Ser1212Ala)
c.9484T>G (p.Ser3162Ala)
c.9364T>G (p.Ser3122Ala)
c.9295T>G (p.Ser3099Ala)
c.7699T>G (p.Ser2567Ala)
n.9835T>G
6g.51748057A>GCA364420802PKHD1c.9559T>C (p.Ser3187Pro)
c.9430T>C (p.Ser3144Pro)
c.9421T>C (p.Ser3141Pro)
c.8917T>C (p.Ser2973Pro)
c.8848T>C (p.Ser2950Pro)
c.3634T>C (p.Ser1212Pro)
c.9484T>C (p.Ser3162Pro)
c.9364T>C (p.Ser3122Pro)
c.9295T>C (p.Ser3099Pro)
c.7699T>C (p.Ser2567Pro)
n.9835T>C
6g.51748057A>TCA364420803PKHD1c.9559T>A (p.Ser3187Thr)
c.9430T>A (p.Ser3144Thr)
c.9421T>A (p.Ser3141Thr)
c.8917T>A (p.Ser2973Thr)
c.8848T>A (p.Ser2950Thr)
c.3634T>A (p.Ser1212Thr)
c.9484T>A (p.Ser3162Thr)
c.9364T>A (p.Ser3122Thr)
c.9295T>A (p.Ser3099Thr)
c.7699T>A (p.Ser2567Thr)
n.9835T>A
6g.51748060delCA276016PKHD1c.9559del (p.Ser3187LeufsTer?)
c.9430del (p.Ser3144LeufsTer?)
c.9421del (p.Ser3141LeufsTer?)
c.8917del (p.Ser2973LeufsTer?)
c.8848del (p.Ser2950LeufsTer?)
c.3634del (p.Ser1212LeufsTer?)
c.9484del (p.Ser3162LeufsTer?)
c.9364del (p.Ser3122LeufsTer?)
c.9295del (p.Ser3099LeufsTer?)
c.7699del (p.Ser2567LeufsTer?)
n.9835del
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51748058A>CCA364420804PKHD1c.9558T>G (p.Phe3186Leu)
c.9429T>G (p.Phe3143Leu)
c.9420T>G (p.Phe3140Leu)
c.8916T>G (p.Phe2972Leu)
c.8847T>G (p.Phe2949Leu)
c.3633T>G (p.Phe1211Leu)
c.9483T>G (p.Phe3161Leu)
c.9363T>G (p.Phe3121Leu)
c.9294T>G (p.Phe3098Leu)
c.7698T>G (p.Phe2566Leu)
n.9834T>G
6g.51748058A>GCA450613389PKHD1c.9558T>C (p.Phe3186=)
c.9429T>C (p.Phe3143=)
c.9420T>C (p.Phe3140=)
c.8916T>C (p.Phe2972=)
c.8847T>C (p.Phe2949=)
c.3633T>C (p.Phe1211=)
c.9483T>C (p.Phe3161=)
c.9363T>C (p.Phe3121=)
c.9294T>C (p.Phe3098=)
c.7698T>C (p.Phe2566=)
n.9834T>C
6g.51748058A>TCA364420805PKHD1c.9558T>A (p.Phe3186Leu)
c.9429T>A (p.Phe3143Leu)
c.9420T>A (p.Phe3140Leu)
c.8916T>A (p.Phe2972Leu)
c.8847T>A (p.Phe2949Leu)
c.3633T>A (p.Phe1211Leu)
c.9483T>A (p.Phe3161Leu)
c.9363T>A (p.Phe3121Leu)
c.9294T>A (p.Phe3098Leu)
c.7698T>A (p.Phe2566Leu)
n.9834T>A
6g.51748059A>CCA364420808PKHD1c.9557T>G (p.Phe3186Cys)
c.9428T>G (p.Phe3143Cys)
c.9419T>G (p.Phe3140Cys)
c.8915T>G (p.Phe2972Cys)
c.8846T>G (p.Phe2949Cys)
c.3632T>G (p.Phe1211Cys)
c.9482T>G (p.Phe3161Cys)
c.9362T>G (p.Phe3121Cys)
c.9293T>G (p.Phe3098Cys)
c.7697T>G (p.Phe2566Cys)
n.9833T>G
6g.51748059A>GCA364420807PKHD1c.9557T>C (p.Phe3186Ser)
c.9428T>C (p.Phe3143Ser)
c.9419T>C (p.Phe3140Ser)
c.8915T>C (p.Phe2972Ser)
c.8846T>C (p.Phe2949Ser)
c.3632T>C (p.Phe1211Ser)
c.9482T>C (p.Phe3161Ser)
c.9362T>C (p.Phe3121Ser)
c.9293T>C (p.Phe3098Ser)
c.7697T>C (p.Phe2566Ser)
n.9833T>C
6g.51748059A>TCA364420806PKHD1c.9557T>A (p.Phe3186Tyr)
c.9428T>A (p.Phe3143Tyr)
c.9419T>A (p.Phe3140Tyr)
c.8915T>A (p.Phe2972Tyr)
c.8846T>A (p.Phe2949Tyr)
c.3632T>A (p.Phe1211Tyr)
c.9482T>A (p.Phe3161Tyr)
c.9362T>A (p.Phe3121Tyr)
c.9293T>A (p.Phe3098Tyr)
c.7697T>A (p.Phe2566Tyr)
n.9833T>A
6g.51748060A>CCA364420809PKHD1c.9556T>G (p.Phe3186Val)
c.9427T>G (p.Phe3143Val)
c.9418T>G (p.Phe3140Val)
c.8914T>G (p.Phe2972Val)
c.8845T>G (p.Phe2949Val)
c.3631T>G (p.Phe1211Val)
c.9481T>G (p.Phe3161Val)
c.9361T>G (p.Phe3121Val)
c.9292T>G (p.Phe3098Val)
c.7696T>G (p.Phe2566Val)
n.9832T>G
6g.51748060A>GCA364420811PKHD1c.9556T>C (p.Phe3186Leu)
c.9427T>C (p.Phe3143Leu)
c.9418T>C (p.Phe3140Leu)
c.8914T>C (p.Phe2972Leu)
c.8845T>C (p.Phe2949Leu)
c.3631T>C (p.Phe1211Leu)
c.9481T>C (p.Phe3161Leu)
c.9361T>C (p.Phe3121Leu)
c.9292T>C (p.Phe3098Leu)
c.7696T>C (p.Phe2566Leu)
n.9832T>C
6g.51748060A>TCA364420810PKHD1c.9556T>A (p.Phe3186Ile)
c.9427T>A (p.Phe3143Ile)
c.9418T>A (p.Phe3140Ile)
c.8914T>A (p.Phe2972Ile)
c.8845T>A (p.Phe2949Ile)
c.3631T>A (p.Phe1211Ile)
c.9481T>A (p.Phe3161Ile)
c.9361T>A (p.Phe3121Ile)
c.9292T>A (p.Phe3098Ile)
c.7696T>A (p.Phe2566Ile)
n.9832T>A
6g.51748061T>ACA450613393PKHD1c.9555A>T (p.Val3185=)
c.9426A>T (p.Val3142=)
c.9417A>T (p.Val3139=)
c.8913A>T (p.Val2971=)
c.8844A>T (p.Val2948=)
c.3630A>T (p.Val1210=)
c.9480A>T (p.Val3160=)
c.9360A>T (p.Val3120=)
c.9291A>T (p.Val3097=)
c.7695A>T (p.Val2565=)
n.9831A>T
6g.51748061T>CCA450613395PKHD1c.9555A>G (p.Val3185=)
c.9426A>G (p.Val3142=)
c.9417A>G (p.Val3139=)
c.8913A>G (p.Val2971=)
c.8844A>G (p.Val2948=)
c.3630A>G (p.Val1210=)
c.9480A>G (p.Val3160=)
c.9360A>G (p.Val3120=)
c.9291A>G (p.Val3097=)
c.7695A>G (p.Val2565=)
n.9831A>G
6g.51748061T>GCA450613396PKHD1c.9555A>C (p.Val3185=)
c.9426A>C (p.Val3142=)
c.9417A>C (p.Val3139=)
c.8913A>C (p.Val2971=)
c.8844A>C (p.Val2948=)
c.3630A>C (p.Val1210=)
c.9480A>C (p.Val3160=)
c.9360A>C (p.Val3120=)
c.9291A>C (p.Val3097=)
c.7695A>C (p.Val2565=)
n.9831A>C
6g.51748062A>CCA364420812PKHD1c.9554T>G (p.Val3185Gly)
c.9425T>G (p.Val3142Gly)
c.9416T>G (p.Val3139Gly)
c.8912T>G (p.Val2971Gly)
c.8843T>G (p.Val2948Gly)
c.3629T>G (p.Val1210Gly)
c.9479T>G (p.Val3160Gly)
c.9359T>G (p.Val3120Gly)
c.9290T>G (p.Val3097Gly)
c.7694T>G (p.Val2565Gly)
n.9830T>G
6g.51748062A>GCA364420813PKHD1c.9554T>C (p.Val3185Ala)
c.9425T>C (p.Val3142Ala)
c.9416T>C (p.Val3139Ala)
c.8912T>C (p.Val2971Ala)
c.8843T>C (p.Val2948Ala)
c.3629T>C (p.Val1210Ala)
c.9479T>C (p.Val3160Ala)
c.9359T>C (p.Val3120Ala)
c.9290T>C (p.Val3097Ala)
c.7694T>C (p.Val2565Ala)
n.9830T>C
 gnomAD v4
6g.51748062A>TCA364420814PKHD1c.9554T>A (p.Val3185Glu)
c.9425T>A (p.Val3142Glu)
c.9416T>A (p.Val3139Glu)
c.8912T>A (p.Val2971Glu)
c.8843T>A (p.Val2948Glu)
c.3629T>A (p.Val1210Glu)
c.9479T>A (p.Val3160Glu)
c.9359T>A (p.Val3120Glu)
c.9290T>A (p.Val3097Glu)
c.7694T>A (p.Val2565Glu)
n.9830T>A
6g.51748063C>ACA364420815PKHD1c.9553G>T (p.Val3185Leu)
c.9424G>T (p.Val3142Leu)
c.9415G>T (p.Val3139Leu)
c.8911G>T (p.Val2971Leu)
c.8842G>T (p.Val2948Leu)
c.3628G>T (p.Val1210Leu)
c.9478G>T (p.Val3160Leu)
c.9358G>T (p.Val3120Leu)
c.9289G>T (p.Val3097Leu)
c.7693G>T (p.Val2565Leu)
n.9829G>T
6g.51748063C=CA1628502420PKHD1c.9553G= (p.Val3185=)
c.9424G= (p.Val3142=)
c.9415G= (p.Val3139=)
c.8911G= (p.Val2971=)
c.8842G= (p.Val2948=)
c.3628G= (p.Val1210=)
c.9478G= (p.Val3160=)
c.9358G= (p.Val3120=)
c.9289G= (p.Val3097=)
c.7693G= (p.Val2565=)
n.9829G=
6g.51748063C>GCA364420816PKHD1c.9553G>C (p.Val3185Leu)
c.9424G>C (p.Val3142Leu)
c.9415G>C (p.Val3139Leu)
c.8911G>C (p.Val2971Leu)
c.8842G>C (p.Val2948Leu)
c.3628G>C (p.Val1210Leu)
c.9478G>C (p.Val3160Leu)
c.9358G>C (p.Val3120Leu)
c.9289G>C (p.Val3097Leu)
c.7693G>C (p.Val2565Leu)
n.9829G>C
6g.51748063C>TCA3851373PKHD1c.9553G>A (p.Val3185Ile)
c.9424G>A (p.Val3142Ile)
c.9415G>A (p.Val3139Ile)
c.8911G>A (p.Val2971Ile)
c.8842G>A (p.Val2948Ile)
c.3628G>A (p.Val1210Ile)
c.9478G>A (p.Val3160Ile)
c.9358G>A (p.Val3120Ile)
c.9289G>A (p.Val3097Ile)
c.7693G>A (p.Val2565Ile)
n.9829G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748064A=CA1628502429PKHD1c.9552T= (p.Tyr3184=)
c.9423T= (p.Tyr3141=)
c.9414T= (p.Tyr3138=)
c.8910T= (p.Tyr2970=)
c.8841T= (p.Tyr2947=)
c.3627T= (p.Tyr1209=)
c.9477T= (p.Tyr3159=)
c.9357T= (p.Tyr3119=)
c.9288T= (p.Tyr3096=)
c.7692T= (p.Tyr2564=)
n.9828T=
6g.51748064A>CCA364420817PKHD1c.9552T>G (p.Tyr3184Ter)
c.9423T>G (p.Tyr3141Ter)
c.9414T>G (p.Tyr3138Ter)
c.8910T>G (p.Tyr2970Ter)
c.8841T>G (p.Tyr2947Ter)
c.3627T>G (p.Tyr1209Ter)
c.9477T>G (p.Tyr3159Ter)
c.9357T>G (p.Tyr3119Ter)
c.9288T>G (p.Tyr3096Ter)
c.7692T>G (p.Tyr2564Ter)
n.9828T>G
 ClinVar
6g.51748064A>GCA450613400PKHD1c.9552T>C (p.Tyr3184=)
c.9423T>C (p.Tyr3141=)
c.9414T>C (p.Tyr3138=)
c.8910T>C (p.Tyr2970=)
c.8841T>C (p.Tyr2947=)
c.3627T>C (p.Tyr1209=)
c.9477T>C (p.Tyr3159=)
c.9357T>C (p.Tyr3119=)
c.9288T>C (p.Tyr3096=)
c.7692T>C (p.Tyr2564=)
n.9828T>C
6g.51748064A>TCA364420818PKHD1c.9552T>A (p.Tyr3184Ter)
c.9423T>A (p.Tyr3141Ter)
c.9414T>A (p.Tyr3138Ter)
c.8910T>A (p.Tyr2970Ter)
c.8841T>A (p.Tyr2947Ter)
c.3627T>A (p.Tyr1209Ter)
c.9477T>A (p.Tyr3159Ter)
c.9357T>A (p.Tyr3119Ter)
c.9288T>A (p.Tyr3096Ter)
c.7692T>A (p.Tyr2564Ter)
n.9828T>A
6g.51748065T>ACA364420819PKHD1c.9551A>T (p.Tyr3184Phe)
c.9422A>T (p.Tyr3141Phe)
c.9413A>T (p.Tyr3138Phe)
c.8909A>T (p.Tyr2970Phe)
c.8840A>T (p.Tyr2947Phe)
c.3626A>T (p.Tyr1209Phe)
c.9476A>T (p.Tyr3159Phe)
c.9356A>T (p.Tyr3119Phe)
c.9287A>T (p.Tyr3096Phe)
c.7691A>T (p.Tyr2564Phe)
n.9827A>T
 gnomAD v4
6g.51748065T>CCA364420820PKHD1c.9551A>G (p.Tyr3184Cys)
c.9422A>G (p.Tyr3141Cys)
c.9413A>G (p.Tyr3138Cys)
c.8909A>G (p.Tyr2970Cys)
c.8840A>G (p.Tyr2947Cys)
c.3626A>G (p.Tyr1209Cys)
c.9476A>G (p.Tyr3159Cys)
c.9356A>G (p.Tyr3119Cys)
c.9287A>G (p.Tyr3096Cys)
c.7691A>G (p.Tyr2564Cys)
n.9827A>G
 dbSNP gnomAD v2 gnomAD v4
6g.51748065T>GCA364420821PKHD1c.9551A>C (p.Tyr3184Ser)
c.9422A>C (p.Tyr3141Ser)
c.9413A>C (p.Tyr3138Ser)
c.8909A>C (p.Tyr2970Ser)
c.8840A>C (p.Tyr2947Ser)
c.3626A>C (p.Tyr1209Ser)
c.9476A>C (p.Tyr3159Ser)
c.9356A>C (p.Tyr3119Ser)
c.9287A>C (p.Tyr3096Ser)
c.7691A>C (p.Tyr2564Ser)
n.9827A>C
6g.51748065T=CA1628502431PKHD1c.9551A= (p.Tyr3184=)
c.9422A= (p.Tyr3141=)
c.9413A= (p.Tyr3138=)
c.8909A= (p.Tyr2970=)
c.8840A= (p.Tyr2947=)
c.3626A= (p.Tyr1209=)
c.9476A= (p.Tyr3159=)
c.9356A= (p.Tyr3119=)
c.9287A= (p.Tyr3096=)
c.7691A= (p.Tyr2564=)
n.9827A=
6g.51748065_51748067dupCA1628502430PKHD1c.9549_9551dup (p.Tyr3184Ter)
c.9420_9422dup (p.Tyr3141Ter)
c.9411_9413dup (p.Tyr3138Ter)
c.8907_8909dup (p.Tyr2970Ter)
c.8838_8840dup (p.Tyr2947Ter)
c.3624_3626dup (p.Tyr1209Ter)
c.9474_9476dup (p.Tyr3159Ter)
c.9354_9356dup (p.Tyr3119Ter)
c.9285_9287dup (p.Tyr3096Ter)
c.7689_7691dup (p.Tyr2564Ter)
n.9825_9827dup
 dbSNP
6g.51748066A>CCA364420824PKHD1c.9550T>G (p.Tyr3184Asp)
c.9421T>G (p.Tyr3141Asp)
c.9412T>G (p.Tyr3138Asp)
c.8908T>G (p.Tyr2970Asp)
c.8839T>G (p.Tyr2947Asp)
c.3625T>G (p.Tyr1209Asp)
c.9475T>G (p.Tyr3159Asp)
c.9355T>G (p.Tyr3119Asp)
c.9286T>G (p.Tyr3096Asp)
c.7690T>G (p.Tyr2564Asp)
n.9826T>G
6g.51748066A>GCA364420822PKHD1c.9550T>C (p.Tyr3184His)
c.9421T>C (p.Tyr3141His)
c.9412T>C (p.Tyr3138His)
c.8908T>C (p.Tyr2970His)
c.8839T>C (p.Tyr2947His)
c.3625T>C (p.Tyr1209His)
c.9475T>C (p.Tyr3159His)
c.9355T>C (p.Tyr3119His)
c.9286T>C (p.Tyr3096His)
c.7690T>C (p.Tyr2564His)
n.9826T>C
6g.51748066A>TCA364420823PKHD1c.9550T>A (p.Tyr3184Asn)
c.9421T>A (p.Tyr3141Asn)
c.9412T>A (p.Tyr3138Asn)
c.8908T>A (p.Tyr2970Asn)
c.8839T>A (p.Tyr2947Asn)
c.3625T>A (p.Tyr1209Asn)
c.9475T>A (p.Tyr3159Asn)
c.9355T>A (p.Tyr3119Asn)
c.9286T>A (p.Tyr3096Asn)
c.7690T>A (p.Tyr2564Asn)
n.9826T>A

Number of alleles fetched