Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51748236A=CA1628502826PKHD1c.9380T= (p.Leu3127=)
c.9251T= (p.Leu3084=)
c.9242T= (p.Leu3081=)
c.8738T= (p.Leu2913=)
c.8669T= (p.Leu2890=)
c.3455T= (p.Leu1152=)
c.9305T= (p.Leu3102=)
c.9185T= (p.Leu3062=)
c.9116T= (p.Leu3039=)
c.7520T= (p.Leu2507=)
n.9656T=
6g.51748236A>CCA364421196PKHD1c.9380T>G (p.Leu3127Arg)
c.9251T>G (p.Leu3084Arg)
c.9242T>G (p.Leu3081Arg)
c.8738T>G (p.Leu2913Arg)
c.8669T>G (p.Leu2890Arg)
c.3455T>G (p.Leu1152Arg)
c.9305T>G (p.Leu3102Arg)
c.9185T>G (p.Leu3062Arg)
c.9116T>G (p.Leu3039Arg)
c.7520T>G (p.Leu2507Arg)
n.9656T>G
 dbSNP gnomAD v2
6g.51748236A>GCA364421197PKHD1c.9380T>C (p.Leu3127Pro)
c.9251T>C (p.Leu3084Pro)
c.9242T>C (p.Leu3081Pro)
c.8738T>C (p.Leu2913Pro)
c.8669T>C (p.Leu2890Pro)
c.3455T>C (p.Leu1152Pro)
c.9305T>C (p.Leu3102Pro)
c.9185T>C (p.Leu3062Pro)
c.9116T>C (p.Leu3039Pro)
c.7520T>C (p.Leu2507Pro)
n.9656T>C
6g.51748236A>TCA364421198PKHD1c.9380T>A (p.Leu3127His)
c.9251T>A (p.Leu3084His)
c.9242T>A (p.Leu3081His)
c.8738T>A (p.Leu2913His)
c.8669T>A (p.Leu2890His)
c.3455T>A (p.Leu1152His)
c.9305T>A (p.Leu3102His)
c.9185T>A (p.Leu3062His)
c.9116T>A (p.Leu3039His)
c.7520T>A (p.Leu2507His)
n.9656T>A
6g.51748237G>ACA364421199PKHD1c.9379C>T (p.Leu3127Phe)
c.9250C>T (p.Leu3084Phe)
c.9241C>T (p.Leu3081Phe)
c.8737C>T (p.Leu2913Phe)
c.8668C>T (p.Leu2890Phe)
c.3454C>T (p.Leu1152Phe)
c.9304C>T (p.Leu3102Phe)
c.9184C>T (p.Leu3062Phe)
c.9115C>T (p.Leu3039Phe)
c.7519C>T (p.Leu2507Phe)
n.9655C>T
 gnomAD v4 COSMIC COSMIC
6g.51748237G>CCA364421200PKHD1c.9379C>G (p.Leu3127Val)
c.9250C>G (p.Leu3084Val)
c.9241C>G (p.Leu3081Val)
c.8737C>G (p.Leu2913Val)
c.8668C>G (p.Leu2890Val)
c.3454C>G (p.Leu1152Val)
c.9304C>G (p.Leu3102Val)
c.9184C>G (p.Leu3062Val)
c.9115C>G (p.Leu3039Val)
c.7519C>G (p.Leu2507Val)
n.9655C>G
 COSMIC COSMIC
6g.51748237G>TCA364421201PKHD1c.9379C>A (p.Leu3127Ile)
c.9250C>A (p.Leu3084Ile)
c.9241C>A (p.Leu3081Ile)
c.8737C>A (p.Leu2913Ile)
c.8668C>A (p.Leu2890Ile)
c.3454C>A (p.Leu1152Ile)
c.9304C>A (p.Leu3102Ile)
c.9184C>A (p.Leu3062Ile)
c.9115C>A (p.Leu3039Ile)
c.7519C>A (p.Leu2507Ile)
n.9655C>A
6g.51748238A>CCA364421202PKHD1c.9378T>G (p.Ser3126Arg)
c.9249T>G (p.Ser3083Arg)
c.9240T>G (p.Ser3080Arg)
c.8736T>G (p.Ser2912Arg)
c.8667T>G (p.Ser2889Arg)
c.3453T>G (p.Ser1151Arg)
c.9303T>G (p.Ser3101Arg)
c.9183T>G (p.Ser3061Arg)
c.9114T>G (p.Ser3038Arg)
c.7518T>G (p.Ser2506Arg)
n.9654T>G
6g.51748238A>GCA450613803PKHD1c.9378T>C (p.Ser3126=)
c.9249T>C (p.Ser3083=)
c.9240T>C (p.Ser3080=)
c.8736T>C (p.Ser2912=)
c.8667T>C (p.Ser2889=)
c.3453T>C (p.Ser1151=)
c.9303T>C (p.Ser3101=)
c.9183T>C (p.Ser3061=)
c.9114T>C (p.Ser3038=)
c.7518T>C (p.Ser2506=)
n.9654T>C
6g.51748238A>TCA364421203PKHD1c.9378T>A (p.Ser3126Arg)
c.9249T>A (p.Ser3083Arg)
c.9240T>A (p.Ser3080Arg)
c.8736T>A (p.Ser2912Arg)
c.8667T>A (p.Ser2889Arg)
c.3453T>A (p.Ser1151Arg)
c.9303T>A (p.Ser3101Arg)
c.9183T>A (p.Ser3061Arg)
c.9114T>A (p.Ser3038Arg)
c.7518T>A (p.Ser2506Arg)
n.9654T>A
6g.51748239C>ACA364421204PKHD1c.9377G>T (p.Ser3126Ile)
c.9248G>T (p.Ser3083Ile)
c.9239G>T (p.Ser3080Ile)
c.8735G>T (p.Ser2912Ile)
c.8666G>T (p.Ser2889Ile)
c.3452G>T (p.Ser1151Ile)
c.9302G>T (p.Ser3101Ile)
c.9182G>T (p.Ser3061Ile)
c.9113G>T (p.Ser3038Ile)
c.7517G>T (p.Ser2506Ile)
n.9653G>T
6g.51748239C=CA1628502831PKHD1c.9377G= (p.Ser3126=)
c.9248G= (p.Ser3083=)
c.9239G= (p.Ser3080=)
c.8735G= (p.Ser2912=)
c.8666G= (p.Ser2889=)
c.3452G= (p.Ser1151=)
c.9302G= (p.Ser3101=)
c.9182G= (p.Ser3061=)
c.9113G= (p.Ser3038=)
c.7517G= (p.Ser2506=)
n.9653G=
6g.51748239C>GCA364421205PKHD1c.9377G>C (p.Ser3126Thr)
c.9248G>C (p.Ser3083Thr)
c.9239G>C (p.Ser3080Thr)
c.8735G>C (p.Ser2912Thr)
c.8666G>C (p.Ser2889Thr)
c.3452G>C (p.Ser1151Thr)
c.9302G>C (p.Ser3101Thr)
c.9182G>C (p.Ser3061Thr)
c.9113G>C (p.Ser3038Thr)
c.7517G>C (p.Ser2506Thr)
n.9653G>C
6g.51748239C>TCA364421206PKHD1c.9377G>A (p.Ser3126Asn)
c.9248G>A (p.Ser3083Asn)
c.9239G>A (p.Ser3080Asn)
c.8735G>A (p.Ser2912Asn)
c.8666G>A (p.Ser2889Asn)
c.3452G>A (p.Ser1151Asn)
c.9302G>A (p.Ser3101Asn)
c.9182G>A (p.Ser3061Asn)
c.9113G>A (p.Ser3038Asn)
c.7517G>A (p.Ser2506Asn)
n.9653G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748240T>ACA364421207PKHD1c.9376A>T (p.Ser3126Cys)
c.9247A>T (p.Ser3083Cys)
c.9238A>T (p.Ser3080Cys)
c.8734A>T (p.Ser2912Cys)
c.8665A>T (p.Ser2889Cys)
c.3451A>T (p.Ser1151Cys)
c.9301A>T (p.Ser3101Cys)
c.9181A>T (p.Ser3061Cys)
c.9112A>T (p.Ser3038Cys)
c.7516A>T (p.Ser2506Cys)
n.9652A>T
6g.51748240T>CCA364421208PKHD1c.9376A>G (p.Ser3126Gly)
c.9247A>G (p.Ser3083Gly)
c.9238A>G (p.Ser3080Gly)
c.8734A>G (p.Ser2912Gly)
c.8665A>G (p.Ser2889Gly)
c.3451A>G (p.Ser1151Gly)
c.9301A>G (p.Ser3101Gly)
c.9181A>G (p.Ser3061Gly)
c.9112A>G (p.Ser3038Gly)
c.7516A>G (p.Ser2506Gly)
n.9652A>G
 dbSNP gnomAD v3 gnomAD v4
6g.51748240T>GCA364421209PKHD1c.9376A>C (p.Ser3126Arg)
c.9247A>C (p.Ser3083Arg)
c.9238A>C (p.Ser3080Arg)
c.8734A>C (p.Ser2912Arg)
c.8665A>C (p.Ser2889Arg)
c.3451A>C (p.Ser1151Arg)
c.9301A>C (p.Ser3101Arg)
c.9181A>C (p.Ser3061Arg)
c.9112A>C (p.Ser3038Arg)
c.7516A>C (p.Ser2506Arg)
n.9652A>C
6g.51748240T=CA1628502836PKHD1c.9376A= (p.Ser3126=)
c.9247A= (p.Ser3083=)
c.9238A= (p.Ser3080=)
c.8734A= (p.Ser2912=)
c.8665A= (p.Ser2889=)
c.3451A= (p.Ser1151=)
c.9301A= (p.Ser3101=)
c.9181A= (p.Ser3061=)
c.9112A= (p.Ser3038=)
c.7516A= (p.Ser2506=)
n.9652A=
6g.51748241T>ACA450613804PKHD1c.9375A>T (p.Ser3125=)
c.9246A>T (p.Ser3082=)
c.9237A>T (p.Ser3079=)
c.8733A>T (p.Ser2911=)
c.8664A>T (p.Ser2888=)
c.3450A>T (p.Ser1150=)
c.9300A>T (p.Ser3100=)
c.9180A>T (p.Ser3060=)
c.9111A>T (p.Ser3037=)
c.7515A>T (p.Ser2505=)
n.9651A>T
6g.51748241T>CCA450613806PKHD1c.9375A>G (p.Ser3125=)
c.9246A>G (p.Ser3082=)
c.9237A>G (p.Ser3079=)
c.8733A>G (p.Ser2911=)
c.8664A>G (p.Ser2888=)
c.3450A>G (p.Ser1150=)
c.9300A>G (p.Ser3100=)
c.9180A>G (p.Ser3060=)
c.9111A>G (p.Ser3037=)
c.7515A>G (p.Ser2505=)
n.9651A>G
 ClinVar dbSNP
6g.51748241T>GCA450613805PKHD1c.9375A>C (p.Ser3125=)
c.9246A>C (p.Ser3082=)
c.9237A>C (p.Ser3079=)
c.8733A>C (p.Ser2911=)
c.8664A>C (p.Ser2888=)
c.3450A>C (p.Ser1150=)
c.9300A>C (p.Ser3100=)
c.9180A>C (p.Ser3060=)
c.9111A>C (p.Ser3037=)
c.7515A>C (p.Ser2505=)
n.9651A>C
6g.51748242G>ACA364421212PKHD1c.9374C>T (p.Ser3125Leu)
c.9245C>T (p.Ser3082Leu)
c.9236C>T (p.Ser3079Leu)
c.8732C>T (p.Ser2911Leu)
c.8663C>T (p.Ser2888Leu)
c.3449C>T (p.Ser1150Leu)
c.9299C>T (p.Ser3100Leu)
c.9179C>T (p.Ser3060Leu)
c.9110C>T (p.Ser3037Leu)
c.7514C>T (p.Ser2505Leu)
n.9650C>T
6g.51748242G>CCA364421214PKHD1c.9374C>G (p.Ser3125Ter)
c.9245C>G (p.Ser3082Ter)
c.9236C>G (p.Ser3079Ter)
c.8732C>G (p.Ser2911Ter)
c.8663C>G (p.Ser2888Ter)
c.3449C>G (p.Ser1150Ter)
c.9299C>G (p.Ser3100Ter)
c.9179C>G (p.Ser3060Ter)
c.9110C>G (p.Ser3037Ter)
c.7514C>G (p.Ser2505Ter)
n.9650C>G
 COSMIC COSMIC
6g.51748242G>TCA364421210PKHD1c.9374C>A (p.Ser3125Ter)
c.9245C>A (p.Ser3082Ter)
c.9236C>A (p.Ser3079Ter)
c.8732C>A (p.Ser2911Ter)
c.8663C>A (p.Ser2888Ter)
c.3449C>A (p.Ser1150Ter)
c.9299C>A (p.Ser3100Ter)
c.9179C>A (p.Ser3060Ter)
c.9110C>A (p.Ser3037Ter)
c.7514C>A (p.Ser2505Ter)
n.9650C>A
6g.51748243A>CCA364421218PKHD1c.9373T>G (p.Ser3125Ala)
c.9244T>G (p.Ser3082Ala)
c.9235T>G (p.Ser3079Ala)
c.8731T>G (p.Ser2911Ala)
c.8662T>G (p.Ser2888Ala)
c.3448T>G (p.Ser1150Ala)
c.9298T>G (p.Ser3100Ala)
c.9178T>G (p.Ser3060Ala)
c.9109T>G (p.Ser3037Ala)
c.7513T>G (p.Ser2505Ala)
n.9649T>G
6g.51748243A>GCA364421216PKHD1c.9373T>C (p.Ser3125Pro)
c.9244T>C (p.Ser3082Pro)
c.9235T>C (p.Ser3079Pro)
c.8731T>C (p.Ser2911Pro)
c.8662T>C (p.Ser2888Pro)
c.3448T>C (p.Ser1150Pro)
c.9298T>C (p.Ser3100Pro)
c.9178T>C (p.Ser3060Pro)
c.9109T>C (p.Ser3037Pro)
c.7513T>C (p.Ser2505Pro)
n.9649T>C
6g.51748243A>TCA364421220PKHD1c.9373T>A (p.Ser3125Thr)
c.9244T>A (p.Ser3082Thr)
c.9235T>A (p.Ser3079Thr)
c.8731T>A (p.Ser2911Thr)
c.8662T>A (p.Ser2888Thr)
c.3448T>A (p.Ser1150Thr)
c.9298T>A (p.Ser3100Thr)
c.9178T>A (p.Ser3060Thr)
c.9109T>A (p.Ser3037Thr)
c.7513T>A (p.Ser2505Thr)
n.9649T>A
 gnomAD v4
6g.51748244A>CCA364421222PKHD1c.9372T>G (p.His3124Gln)
c.9243T>G (p.His3081Gln)
c.9234T>G (p.His3078Gln)
c.8730T>G (p.His2910Gln)
c.8661T>G (p.His2887Gln)
c.3447T>G (p.His1149Gln)
c.9297T>G (p.His3099Gln)
c.9177T>G (p.His3059Gln)
c.9108T>G (p.His3036Gln)
c.7512T>G (p.His2504Gln)
n.9648T>G
6g.51748244A>GCA450613809PKHD1c.9372T>C (p.His3124=)
c.9243T>C (p.His3081=)
c.9234T>C (p.His3078=)
c.8730T>C (p.His2910=)
c.8661T>C (p.His2887=)
c.3447T>C (p.His1149=)
c.9297T>C (p.His3099=)
c.9177T>C (p.His3059=)
c.9108T>C (p.His3036=)
c.7512T>C (p.His2504=)
n.9648T>C
6g.51748244A>TCA364421224PKHD1c.9372T>A (p.His3124Gln)
c.9243T>A (p.His3081Gln)
c.9234T>A (p.His3078Gln)
c.8730T>A (p.His2910Gln)
c.8661T>A (p.His2887Gln)
c.3447T>A (p.His1149Gln)
c.9297T>A (p.His3099Gln)
c.9177T>A (p.His3059Gln)
c.9108T>A (p.His3036Gln)
c.7512T>A (p.His2504Gln)
n.9648T>A
 gnomAD v4
6g.51748245T>ACA364421226PKHD1c.9371A>T (p.His3124Leu)
c.9242A>T (p.His3081Leu)
c.9233A>T (p.His3078Leu)
c.8729A>T (p.His2910Leu)
c.8660A>T (p.His2887Leu)
c.3446A>T (p.His1149Leu)
c.9296A>T (p.His3099Leu)
c.9176A>T (p.His3059Leu)
c.9107A>T (p.His3036Leu)
c.7511A>T (p.His2504Leu)
n.9647A>T
6g.51748245T>CCA3851397PKHD1c.9371A>G (p.His3124Arg)
c.9242A>G (p.His3081Arg)
c.9233A>G (p.His3078Arg)
c.8729A>G (p.His2910Arg)
c.8660A>G (p.His2887Arg)
c.3446A>G (p.His1149Arg)
c.9296A>G (p.His3099Arg)
c.9176A>G (p.His3059Arg)
c.9107A>G (p.His3036Arg)
c.7511A>G (p.His2504Arg)
n.9647A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748245T>GCA364421229PKHD1c.9371A>C (p.His3124Pro)
c.9242A>C (p.His3081Pro)
c.9233A>C (p.His3078Pro)
c.8729A>C (p.His2910Pro)
c.8660A>C (p.His2887Pro)
c.3446A>C (p.His1149Pro)
c.9296A>C (p.His3099Pro)
c.9176A>C (p.His3059Pro)
c.9107A>C (p.His3036Pro)
c.7511A>C (p.His2504Pro)
n.9647A>C
 ClinVar dbSNP
6g.51748245T=CA1628502841PKHD1c.9371A= (p.His3124=)
c.9242A= (p.His3081=)
c.9233A= (p.His3078=)
c.8729A= (p.His2910=)
c.8660A= (p.His2887=)
c.3446A= (p.His1149=)
c.9296A= (p.His3099=)
c.9176A= (p.His3059=)
c.9107A= (p.His3036=)
c.7511A= (p.His2504=)
n.9647A=
6g.51748246G>ACA364421233PKHD1c.9370C>T (p.His3124Tyr)
c.9241C>T (p.His3081Tyr)
c.9232C>T (p.His3078Tyr)
c.8728C>T (p.His2910Tyr)
c.8659C>T (p.His2887Tyr)
c.3445C>T (p.His1149Tyr)
c.9295C>T (p.His3099Tyr)
c.9175C>T (p.His3059Tyr)
c.9106C>T (p.His3036Tyr)
c.7510C>T (p.His2504Tyr)
n.9646C>T
 ClinVar dbSNP
6g.51748246G>CCA364421234PKHD1c.9370C>G (p.His3124Asp)
c.9241C>G (p.His3081Asp)
c.9232C>G (p.His3078Asp)
c.8728C>G (p.His2910Asp)
c.8659C>G (p.His2887Asp)
c.3445C>G (p.His1149Asp)
c.9295C>G (p.His3099Asp)
c.9175C>G (p.His3059Asp)
c.9106C>G (p.His3036Asp)
c.7510C>G (p.His2504Asp)
n.9646C>G
6g.51748246G=CA1628502849PKHD1c.9370C= (p.His3124=)
c.9241C= (p.His3081=)
c.9232C= (p.His3078=)
c.8728C= (p.His2910=)
c.8659C= (p.His2887=)
c.3445C= (p.His1149=)
c.9295C= (p.His3099=)
c.9175C= (p.His3059=)
c.9106C= (p.His3036=)
c.7510C= (p.His2504=)
n.9646C=
6g.51748246G>TCA364421236PKHD1c.9370C>A (p.His3124Asn)
c.9241C>A (p.His3081Asn)
c.9232C>A (p.His3078Asn)
c.8728C>A (p.His2910Asn)
c.8659C>A (p.His2887Asn)
c.3445C>A (p.His1149Asn)
c.9295C>A (p.His3099Asn)
c.9175C>A (p.His3059Asn)
c.9106C>A (p.His3036Asn)
c.7510C>A (p.His2504Asn)
n.9646C>A
6g.51748247C>ACA3851398PKHD1c.9369G>T (p.Ala3123=)
c.9240G>T (p.Ala3080=)
c.9231G>T (p.Ala3077=)
c.8727G>T (p.Ala2909=)
c.8658G>T (p.Ala2886=)
c.3444G>T (p.Ala1148=)
c.9294G>T (p.Ala3098=)
c.9174G>T (p.Ala3058=)
c.9105G>T (p.Ala3035=)
c.7509G>T (p.Ala2503=)
n.9645G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748247C=CA1628502855PKHD1c.9369G= (p.Ala3123=)
c.9240G= (p.Ala3080=)
c.9231G= (p.Ala3077=)
c.8727G= (p.Ala2909=)
c.8658G= (p.Ala2886=)
c.3444G= (p.Ala1148=)
c.9294G= (p.Ala3098=)
c.9174G= (p.Ala3058=)
c.9105G= (p.Ala3035=)
c.7509G= (p.Ala2503=)
n.9645G=
6g.51748247C>GCA450613813PKHD1c.9369G>C (p.Ala3123=)
c.9240G>C (p.Ala3080=)
c.9231G>C (p.Ala3077=)
c.8727G>C (p.Ala2909=)
c.8658G>C (p.Ala2886=)
c.3444G>C (p.Ala1148=)
c.9294G>C (p.Ala3098=)
c.9174G>C (p.Ala3058=)
c.9105G>C (p.Ala3035=)
c.7509G>C (p.Ala2503=)
n.9645G>C
 gnomAD v4
6g.51748247C>TCA3851399PKHD1c.9369G>A (p.Ala3123=)
c.9240G>A (p.Ala3080=)
c.9231G>A (p.Ala3077=)
c.8727G>A (p.Ala2909=)
c.8658G>A (p.Ala2886=)
c.3444G>A (p.Ala1148=)
c.9294G>A (p.Ala3098=)
c.9174G>A (p.Ala3058=)
c.9105G>A (p.Ala3035=)
c.7509G>A (p.Ala2503=)
n.9645G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51748248G>ACA3851400PKHD1c.9368C>T (p.Ala3123Val)
c.9239C>T (p.Ala3080Val)
c.9230C>T (p.Ala3077Val)
c.8726C>T (p.Ala2909Val)
c.8657C>T (p.Ala2886Val)
c.3443C>T (p.Ala1148Val)
c.9293C>T (p.Ala3098Val)
c.9173C>T (p.Ala3058Val)
c.9104C>T (p.Ala3035Val)
c.7508C>T (p.Ala2503Val)
n.9644C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.51748248G>CCA364421244PKHD1c.9368C>G (p.Ala3123Gly)
c.9239C>G (p.Ala3080Gly)
c.9230C>G (p.Ala3077Gly)
c.8726C>G (p.Ala2909Gly)
c.8657C>G (p.Ala2886Gly)
c.3443C>G (p.Ala1148Gly)
c.9293C>G (p.Ala3098Gly)
c.9173C>G (p.Ala3058Gly)
c.9104C>G (p.Ala3035Gly)
c.7508C>G (p.Ala2503Gly)
n.9644C>G
6g.51748248G=CA1628502872PKHD1c.9368C= (p.Ala3123=)
c.9239C= (p.Ala3080=)
c.9230C= (p.Ala3077=)
c.8726C= (p.Ala2909=)
c.8657C= (p.Ala2886=)
c.3443C= (p.Ala1148=)
c.9293C= (p.Ala3098=)
c.9173C= (p.Ala3058=)
c.9104C= (p.Ala3035=)
c.7508C= (p.Ala2503=)
n.9644C=
6g.51748248G>TCA364421242PKHD1c.9368C>A (p.Ala3123Glu)
c.9239C>A (p.Ala3080Glu)
c.9230C>A (p.Ala3077Glu)
c.8726C>A (p.Ala2909Glu)
c.8657C>A (p.Ala2886Glu)
c.3443C>A (p.Ala1148Glu)
c.9293C>A (p.Ala3098Glu)
c.9173C>A (p.Ala3058Glu)
c.9104C>A (p.Ala3035Glu)
c.7508C>A (p.Ala2503Glu)
n.9644C>A
6g.51748249C>ACA364421248PKHD1c.9367G>T (p.Ala3123Ser)
c.9238G>T (p.Ala3080Ser)
c.9229G>T (p.Ala3077Ser)
c.8725G>T (p.Ala2909Ser)
c.8656G>T (p.Ala2886Ser)
c.3442G>T (p.Ala1148Ser)
c.9292G>T (p.Ala3098Ser)
c.9172G>T (p.Ala3058Ser)
c.9103G>T (p.Ala3035Ser)
c.7507G>T (p.Ala2503Ser)
n.9643G>T
6g.51748249C>GCA364421249PKHD1c.9367G>C (p.Ala3123Pro)
c.9238G>C (p.Ala3080Pro)
c.9229G>C (p.Ala3077Pro)
c.8725G>C (p.Ala2909Pro)
c.8656G>C (p.Ala2886Pro)
c.3442G>C (p.Ala1148Pro)
c.9292G>C (p.Ala3098Pro)
c.9172G>C (p.Ala3058Pro)
c.9103G>C (p.Ala3035Pro)
c.7507G>C (p.Ala2503Pro)
n.9643G>C
6g.51748249C>TCA364421251PKHD1c.9367G>A (p.Ala3123Thr)
c.9238G>A (p.Ala3080Thr)
c.9229G>A (p.Ala3077Thr)
c.8725G>A (p.Ala2909Thr)
c.8656G>A (p.Ala2886Thr)
c.3442G>A (p.Ala1148Thr)
c.9292G>A (p.Ala3098Thr)
c.9172G>A (p.Ala3058Thr)
c.9103G>A (p.Ala3035Thr)
c.7507G>A (p.Ala2503Thr)
n.9643G>A
6g.51748250C>ACA450613819PKHD1c.9366G>T (p.Val3122=)
c.9237G>T (p.Val3079=)
c.9228G>T (p.Val3076=)
c.8724G>T (p.Val2908=)
c.8655G>T (p.Val2885=)
c.3441G>T (p.Val1147=)
c.9291G>T (p.Val3097=)
c.9171G>T (p.Val3057=)
c.9102G>T (p.Val3034=)
c.7506G>T (p.Val2502=)
n.9642G>T
6g.51748250C>GCA450613818PKHD1c.9366G>C (p.Val3122=)
c.9237G>C (p.Val3079=)
c.9228G>C (p.Val3076=)
c.8724G>C (p.Val2908=)
c.8655G>C (p.Val2885=)
c.3441G>C (p.Val1147=)
c.9291G>C (p.Val3097=)
c.9171G>C (p.Val3057=)
c.9102G>C (p.Val3034=)
c.7506G>C (p.Val2502=)
n.9642G>C
6g.51748250C>TCA450613817PKHD1c.9366G>A (p.Val3122=)
c.9237G>A (p.Val3079=)
c.9228G>A (p.Val3076=)
c.8724G>A (p.Val2908=)
c.8655G>A (p.Val2885=)
c.3441G>A (p.Val1147=)
c.9291G>A (p.Val3097=)
c.9171G>A (p.Val3057=)
c.9102G>A (p.Val3034=)
c.7506G>A (p.Val2502=)
n.9642G>A
6g.51748251A=CA1628502877PKHD1c.9365T= (p.Val3122=)
c.9236T= (p.Val3079=)
c.9227T= (p.Val3076=)
c.8723T= (p.Val2908=)
c.8654T= (p.Val2885=)
c.3440T= (p.Val1147=)
c.9290T= (p.Val3097=)
c.9170T= (p.Val3057=)
c.9101T= (p.Val3034=)
c.7505T= (p.Val2502=)
n.9641T=
6g.51748251A>CCA364421255PKHD1c.9365T>G (p.Val3122Gly)
c.9236T>G (p.Val3079Gly)
c.9227T>G (p.Val3076Gly)
c.8723T>G (p.Val2908Gly)
c.8654T>G (p.Val2885Gly)
c.3440T>G (p.Val1147Gly)
c.9290T>G (p.Val3097Gly)
c.9170T>G (p.Val3057Gly)
c.9101T>G (p.Val3034Gly)
c.7505T>G (p.Val2502Gly)
n.9641T>G
6g.51748251A>GCA3851401PKHD1c.9365T>C (p.Val3122Ala)
c.9236T>C (p.Val3079Ala)
c.9227T>C (p.Val3076Ala)
c.8723T>C (p.Val2908Ala)
c.8654T>C (p.Val2885Ala)
c.3440T>C (p.Val1147Ala)
c.9290T>C (p.Val3097Ala)
c.9170T>C (p.Val3057Ala)
c.9101T>C (p.Val3034Ala)
c.7505T>C (p.Val2502Ala)
n.9641T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748251A>TCA364421258PKHD1c.9365T>A (p.Val3122Glu)
c.9236T>A (p.Val3079Glu)
c.9227T>A (p.Val3076Glu)
c.8723T>A (p.Val2908Glu)
c.8654T>A (p.Val2885Glu)
c.3440T>A (p.Val1147Glu)
c.9290T>A (p.Val3097Glu)
c.9170T>A (p.Val3057Glu)
c.9101T>A (p.Val3034Glu)
c.7505T>A (p.Val2502Glu)
n.9641T>A
6g.51748252C>ACA364421261PKHD1c.9364G>T (p.Val3122Leu)
c.9235G>T (p.Val3079Leu)
c.9226G>T (p.Val3076Leu)
c.8722G>T (p.Val2908Leu)
c.8653G>T (p.Val2885Leu)
c.3439G>T (p.Val1147Leu)
c.9289G>T (p.Val3097Leu)
c.9169G>T (p.Val3057Leu)
c.9100G>T (p.Val3034Leu)
c.7504G>T (p.Val2502Leu)
n.9640G>T
 gnomAD v4
6g.51748252C=CA1628502882PKHD1c.9364G= (p.Val3122=)
c.9235G= (p.Val3079=)
c.9226G= (p.Val3076=)
c.8722G= (p.Val2908=)
c.8653G= (p.Val2885=)
c.3439G= (p.Val1147=)
c.9289G= (p.Val3097=)
c.9169G= (p.Val3057=)
c.9100G= (p.Val3034=)
c.7504G= (p.Val2502=)
n.9640G=
6g.51748252C>GCA364421263PKHD1c.9364G>C (p.Val3122Leu)
c.9235G>C (p.Val3079Leu)
c.9226G>C (p.Val3076Leu)
c.8722G>C (p.Val2908Leu)
c.8653G>C (p.Val2885Leu)
c.3439G>C (p.Val1147Leu)
c.9289G>C (p.Val3097Leu)
c.9169G>C (p.Val3057Leu)
c.9100G>C (p.Val3034Leu)
c.7504G>C (p.Val2502Leu)
n.9640G>C
6g.51748252C>TCA364421265PKHD1c.9364G>A (p.Val3122Met)
c.9235G>A (p.Val3079Met)
c.9226G>A (p.Val3076Met)
c.8722G>A (p.Val2908Met)
c.8653G>A (p.Val2885Met)
c.3439G>A (p.Val1147Met)
c.9289G>A (p.Val3097Met)
c.9169G>A (p.Val3057Met)
c.9100G>A (p.Val3034Met)
c.7504G>A (p.Val2502Met)
n.9640G>A
 dbSNP gnomAD v2 gnomAD v4
6g.51748253A=CA1628502893PKHD1c.9363T= (p.Asn3121=)
c.9234T= (p.Asn3078=)
c.9225T= (p.Asn3075=)
c.8721T= (p.Asn2907=)
c.8652T= (p.Asn2884=)
c.3438T= (p.Asn1146=)
c.9288T= (p.Asn3096=)
c.9168T= (p.Asn3056=)
c.9099T= (p.Asn3033=)
c.7503T= (p.Asn2501=)
n.9639T=
6g.51748253A>CCA364421267PKHD1c.9363T>G (p.Asn3121Lys)
c.9234T>G (p.Asn3078Lys)
c.9225T>G (p.Asn3075Lys)
c.8721T>G (p.Asn2907Lys)
c.8652T>G (p.Asn2884Lys)
c.3438T>G (p.Asn1146Lys)
c.9288T>G (p.Asn3096Lys)
c.9168T>G (p.Asn3056Lys)
c.9099T>G (p.Asn3033Lys)
c.7503T>G (p.Asn2501Lys)
n.9639T>G
6g.51748253A>GCA246494PKHD1c.9363T>C (p.Asn3121=)
c.9234T>C (p.Asn3078=)
c.9225T>C (p.Asn3075=)
c.8721T>C (p.Asn2907=)
c.8652T>C (p.Asn2884=)
c.3438T>C (p.Asn1146=)
c.9288T>C (p.Asn3096=)
c.9168T>C (p.Asn3056=)
c.9099T>C (p.Asn3033=)
c.7503T>C (p.Asn2501=)
n.9639T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748253A>TCA364421273PKHD1c.9363T>A (p.Asn3121Lys)
c.9234T>A (p.Asn3078Lys)
c.9225T>A (p.Asn3075Lys)
c.8721T>A (p.Asn2907Lys)
c.8652T>A (p.Asn2884Lys)
c.3438T>A (p.Asn1146Lys)
c.9288T>A (p.Asn3096Lys)
c.9168T>A (p.Asn3056Lys)
c.9099T>A (p.Asn3033Lys)
c.7503T>A (p.Asn2501Lys)
n.9639T>A
6g.51748254T>ACA364421280PKHD1c.9362A>T (p.Asn3121Ile)
c.9233A>T (p.Asn3078Ile)
c.9224A>T (p.Asn3075Ile)
c.8720A>T (p.Asn2907Ile)
c.8651A>T (p.Asn2884Ile)
c.3437A>T (p.Asn1146Ile)
c.9287A>T (p.Asn3096Ile)
c.9167A>T (p.Asn3056Ile)
c.9098A>T (p.Asn3033Ile)
c.7502A>T (p.Asn2501Ile)
n.9638A>T
 gnomAD v4
6g.51748254T>CCA364421281PKHD1c.9362A>G (p.Asn3121Ser)
c.9233A>G (p.Asn3078Ser)
c.9224A>G (p.Asn3075Ser)
c.8720A>G (p.Asn2907Ser)
c.8651A>G (p.Asn2884Ser)
c.3437A>G (p.Asn1146Ser)
c.9287A>G (p.Asn3096Ser)
c.9167A>G (p.Asn3056Ser)
c.9098A>G (p.Asn3033Ser)
c.7502A>G (p.Asn2501Ser)
n.9638A>G
 dbSNP gnomAD v4
6g.51748254T>GCA364421277PKHD1c.9362A>C (p.Asn3121Thr)
c.9233A>C (p.Asn3078Thr)
c.9224A>C (p.Asn3075Thr)
c.8720A>C (p.Asn2907Thr)
c.8651A>C (p.Asn2884Thr)
c.3437A>C (p.Asn1146Thr)
c.9287A>C (p.Asn3096Thr)
c.9167A>C (p.Asn3056Thr)
c.9098A>C (p.Asn3033Thr)
c.7502A>C (p.Asn2501Thr)
n.9638A>C
6g.51748254T=CA1628502897PKHD1c.9362A= (p.Asn3121=)
c.9233A= (p.Asn3078=)
c.9224A= (p.Asn3075=)
c.8720A= (p.Asn2907=)
c.8651A= (p.Asn2884=)
c.3437A= (p.Asn1146=)
c.9287A= (p.Asn3096=)
c.9167A= (p.Asn3056=)
c.9098A= (p.Asn3033=)
c.7502A= (p.Asn2501=)
n.9638A=
6g.51748255T>ACA364421285PKHD1c.9361A>T (p.Asn3121Tyr)
c.9232A>T (p.Asn3078Tyr)
c.9223A>T (p.Asn3075Tyr)
c.8719A>T (p.Asn2907Tyr)
c.8650A>T (p.Asn2884Tyr)
c.3436A>T (p.Asn1146Tyr)
c.9286A>T (p.Asn3096Tyr)
c.9166A>T (p.Asn3056Tyr)
c.9097A>T (p.Asn3033Tyr)
c.7501A>T (p.Asn2501Tyr)
n.9637A>T
6g.51748255T>CCA3851402PKHD1c.9361A>G (p.Asn3121Asp)
c.9232A>G (p.Asn3078Asp)
c.9223A>G (p.Asn3075Asp)
c.8719A>G (p.Asn2907Asp)
c.8650A>G (p.Asn2884Asp)
c.3436A>G (p.Asn1146Asp)
c.9286A>G (p.Asn3096Asp)
c.9166A>G (p.Asn3056Asp)
c.9097A>G (p.Asn3033Asp)
c.7501A>G (p.Asn2501Asp)
n.9637A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748255T>GCA364421289PKHD1c.9361A>C (p.Asn3121His)
c.9232A>C (p.Asn3078His)
c.9223A>C (p.Asn3075His)
c.8719A>C (p.Asn2907His)
c.8650A>C (p.Asn2884His)
c.3436A>C (p.Asn1146His)
c.9286A>C (p.Asn3096His)
c.9166A>C (p.Asn3056His)
c.9097A>C (p.Asn3033His)
c.7501A>C (p.Asn2501His)
n.9637A>C
6g.51748255T=CA1628502902PKHD1c.9361A= (p.Asn3121=)
c.9232A= (p.Asn3078=)
c.9223A= (p.Asn3075=)
c.8719A= (p.Asn2907=)
c.8650A= (p.Asn2884=)
c.3436A= (p.Asn1146=)
c.9286A= (p.Asn3096=)
c.9166A= (p.Asn3056=)
c.9097A= (p.Asn3033=)
c.7501A= (p.Asn2501=)
n.9637A=
6g.51748256G>ACA450613823PKHD1c.9360C>T (p.Asp3120=)
c.9231C>T (p.Asp3077=)
c.9222C>T (p.Asp3074=)
c.8718C>T (p.Asp2906=)
c.8649C>T (p.Asp2883=)
c.3435C>T (p.Asp1145=)
c.9285C>T (p.Asp3095=)
c.9165C>T (p.Asp3055=)
c.9096C>T (p.Asp3032=)
c.7500C>T (p.Asp2500=)
n.9636C>T
6g.51748256G>CCA364421292PKHD1c.9360C>G (p.Asp3120Glu)
c.9231C>G (p.Asp3077Glu)
c.9222C>G (p.Asp3074Glu)
c.8718C>G (p.Asp2906Glu)
c.8649C>G (p.Asp2883Glu)
c.3435C>G (p.Asp1145Glu)
c.9285C>G (p.Asp3095Glu)
c.9165C>G (p.Asp3055Glu)
c.9096C>G (p.Asp3032Glu)
c.7500C>G (p.Asp2500Glu)
n.9636C>G
6g.51748256G>TCA364421294PKHD1c.9360C>A (p.Asp3120Glu)
c.9231C>A (p.Asp3077Glu)
c.9222C>A (p.Asp3074Glu)
c.8718C>A (p.Asp2906Glu)
c.8649C>A (p.Asp2883Glu)
c.3435C>A (p.Asp1145Glu)
c.9285C>A (p.Asp3095Glu)
c.9165C>A (p.Asp3055Glu)
c.9096C>A (p.Asp3032Glu)
c.7500C>A (p.Asp2500Glu)
n.9636C>A
 gnomAD v4
6g.51748257T>ACA364421301PKHD1c.9359A>T (p.Asp3120Val)
c.9230A>T (p.Asp3077Val)
c.9221A>T (p.Asp3074Val)
c.8717A>T (p.Asp2906Val)
c.8648A>T (p.Asp2883Val)
c.3434A>T (p.Asp1145Val)
c.9284A>T (p.Asp3095Val)
c.9164A>T (p.Asp3055Val)
c.9095A>T (p.Asp3032Val)
c.7499A>T (p.Asp2500Val)
n.9635A>T
6g.51748257T>CCA364421299PKHD1c.9359A>G (p.Asp3120Gly)
c.9230A>G (p.Asp3077Gly)
c.9221A>G (p.Asp3074Gly)
c.8717A>G (p.Asp2906Gly)
c.8648A>G (p.Asp2883Gly)
c.3434A>G (p.Asp1145Gly)
c.9284A>G (p.Asp3095Gly)
c.9164A>G (p.Asp3055Gly)
c.9095A>G (p.Asp3032Gly)
c.7499A>G (p.Asp2500Gly)
n.9635A>G
6g.51748257T>GCA364421297PKHD1c.9359A>C (p.Asp3120Ala)
c.9230A>C (p.Asp3077Ala)
c.9221A>C (p.Asp3074Ala)
c.8717A>C (p.Asp2906Ala)
c.8648A>C (p.Asp2883Ala)
c.3434A>C (p.Asp1145Ala)
c.9284A>C (p.Asp3095Ala)
c.9164A>C (p.Asp3055Ala)
c.9095A>C (p.Asp3032Ala)
c.7499A>C (p.Asp2500Ala)
n.9635A>C
6g.51748258C>ACA364421303PKHD1c.9358G>T (p.Asp3120Tyr)
c.9229G>T (p.Asp3077Tyr)
c.9220G>T (p.Asp3074Tyr)
c.8716G>T (p.Asp2906Tyr)
c.8647G>T (p.Asp2883Tyr)
c.3433G>T (p.Asp1145Tyr)
c.9283G>T (p.Asp3095Tyr)
c.9163G>T (p.Asp3055Tyr)
c.9094G>T (p.Asp3032Tyr)
c.7498G>T (p.Asp2500Tyr)
n.9634G>T
6g.51748258C=CA1628502907PKHD1c.9358G= (p.Asp3120=)
c.9229G= (p.Asp3077=)
c.9220G= (p.Asp3074=)
c.8716G= (p.Asp2906=)
c.8647G= (p.Asp2883=)
c.3433G= (p.Asp1145=)
c.9283G= (p.Asp3095=)
c.9163G= (p.Asp3055=)
c.9094G= (p.Asp3032=)
c.7498G= (p.Asp2500=)
n.9634G=
6g.51748258C>GCA364421305PKHD1c.9358G>C (p.Asp3120His)
c.9229G>C (p.Asp3077His)
c.9220G>C (p.Asp3074His)
c.8716G>C (p.Asp2906His)
c.8647G>C (p.Asp2883His)
c.3433G>C (p.Asp1145His)
c.9283G>C (p.Asp3095His)
c.9163G>C (p.Asp3055His)
c.9094G>C (p.Asp3032His)
c.7498G>C (p.Asp2500His)
n.9634G>C
6g.51748258C>TCA364421307PKHD1c.9358G>A (p.Asp3120Asn)
c.9229G>A (p.Asp3077Asn)
c.9220G>A (p.Asp3074Asn)
c.8716G>A (p.Asp2906Asn)
c.8647G>A (p.Asp2883Asn)
c.3433G>A (p.Asp1145Asn)
c.9283G>A (p.Asp3095Asn)
c.9163G>A (p.Asp3055Asn)
c.9094G>A (p.Asp3032Asn)
c.7498G>A (p.Asp2500Asn)
n.9634G>A
 dbSNP
6g.51748259A>CCA450613825PKHD1c.9357T>G (p.Ser3119=)
c.9228T>G (p.Ser3076=)
c.9219T>G (p.Ser3073=)
c.8715T>G (p.Ser2905=)
c.8646T>G (p.Ser2882=)
c.3432T>G (p.Ser1144=)
c.9282T>G (p.Ser3094=)
c.9162T>G (p.Ser3054=)
c.9093T>G (p.Ser3031=)
c.7497T>G (p.Ser2499=)
n.9633T>G
6g.51748259A>GCA450613826PKHD1c.9357T>C (p.Ser3119=)
c.9228T>C (p.Ser3076=)
c.9219T>C (p.Ser3073=)
c.8715T>C (p.Ser2905=)
c.8646T>C (p.Ser2882=)
c.3432T>C (p.Ser1144=)
c.9282T>C (p.Ser3094=)
c.9162T>C (p.Ser3054=)
c.9093T>C (p.Ser3031=)
c.7497T>C (p.Ser2499=)
n.9633T>C
6g.51748259A>TCA450613827PKHD1c.9357T>A (p.Ser3119=)
c.9228T>A (p.Ser3076=)
c.9219T>A (p.Ser3073=)
c.8715T>A (p.Ser2905=)
c.8646T>A (p.Ser2882=)
c.3432T>A (p.Ser1144=)
c.9282T>A (p.Ser3094=)
c.9162T>A (p.Ser3054=)
c.9093T>A (p.Ser3031=)
c.7497T>A (p.Ser2499=)
n.9633T>A
6g.51748260G>ACA3851403PKHD1c.9356C>T (p.Ser3119Phe)
c.9227C>T (p.Ser3076Phe)
c.9218C>T (p.Ser3073Phe)
c.8714C>T (p.Ser2905Phe)
c.8645C>T (p.Ser2882Phe)
c.3431C>T (p.Ser1144Phe)
c.9281C>T (p.Ser3094Phe)
c.9161C>T (p.Ser3054Phe)
c.9092C>T (p.Ser3031Phe)
c.7496C>T (p.Ser2499Phe)
n.9632C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748260G>CCA364421312PKHD1c.9356C>G (p.Ser3119Cys)
c.9227C>G (p.Ser3076Cys)
c.9218C>G (p.Ser3073Cys)
c.8714C>G (p.Ser2905Cys)
c.8645C>G (p.Ser2882Cys)
c.3431C>G (p.Ser1144Cys)
c.9281C>G (p.Ser3094Cys)
c.9161C>G (p.Ser3054Cys)
c.9092C>G (p.Ser3031Cys)
c.7496C>G (p.Ser2499Cys)
n.9632C>G
 dbSNP
6g.51748260G=CA1628502910PKHD1c.9356C= (p.Ser3119=)
c.9227C= (p.Ser3076=)
c.9218C= (p.Ser3073=)
c.8714C= (p.Ser2905=)
c.8645C= (p.Ser2882=)
c.3431C= (p.Ser1144=)
c.9281C= (p.Ser3094=)
c.9161C= (p.Ser3054=)
c.9092C= (p.Ser3031=)
c.7496C= (p.Ser2499=)
n.9632C=
6g.51748260G>TCA364421314PKHD1c.9356C>A (p.Ser3119Tyr)
c.9227C>A (p.Ser3076Tyr)
c.9218C>A (p.Ser3073Tyr)
c.8714C>A (p.Ser2905Tyr)
c.8645C>A (p.Ser2882Tyr)
c.3431C>A (p.Ser1144Tyr)
c.9281C>A (p.Ser3094Tyr)
c.9161C>A (p.Ser3054Tyr)
c.9092C>A (p.Ser3031Tyr)
c.7496C>A (p.Ser2499Tyr)
n.9632C>A
6g.51748261A=CA1628502913PKHD1c.9355T= (p.Ser3119=)
c.9226T= (p.Ser3076=)
c.9217T= (p.Ser3073=)
c.8713T= (p.Ser2905=)
c.8644T= (p.Ser2882=)
c.3430T= (p.Ser1144=)
c.9280T= (p.Ser3094=)
c.9160T= (p.Ser3054=)
c.9091T= (p.Ser3031=)
c.7495T= (p.Ser2499=)
n.9631T=
6g.51748261A>CCA364421317PKHD1c.9355T>G (p.Ser3119Ala)
c.9226T>G (p.Ser3076Ala)
c.9217T>G (p.Ser3073Ala)
c.8713T>G (p.Ser2905Ala)
c.8644T>G (p.Ser2882Ala)
c.3430T>G (p.Ser1144Ala)
c.9280T>G (p.Ser3094Ala)
c.9160T>G (p.Ser3054Ala)
c.9091T>G (p.Ser3031Ala)
c.7495T>G (p.Ser2499Ala)
n.9631T>G
 dbSNP
6g.51748261A>GCA364421321PKHD1c.9355T>C (p.Ser3119Pro)
c.9226T>C (p.Ser3076Pro)
c.9217T>C (p.Ser3073Pro)
c.8713T>C (p.Ser2905Pro)
c.8644T>C (p.Ser2882Pro)
c.3430T>C (p.Ser1144Pro)
c.9280T>C (p.Ser3094Pro)
c.9160T>C (p.Ser3054Pro)
c.9091T>C (p.Ser3031Pro)
c.7495T>C (p.Ser2499Pro)
n.9631T>C
6g.51748261A>TCA364421319PKHD1c.9355T>A (p.Ser3119Thr)
c.9226T>A (p.Ser3076Thr)
c.9217T>A (p.Ser3073Thr)
c.8713T>A (p.Ser2905Thr)
c.8644T>A (p.Ser2882Thr)
c.3430T>A (p.Ser1144Thr)
c.9280T>A (p.Ser3094Thr)
c.9160T>A (p.Ser3054Thr)
c.9091T>A (p.Ser3031Thr)
c.7495T>A (p.Ser2499Thr)
n.9631T>A
6g.51748262C>ACA364421323PKHD1c.9354G>T (p.Trp3118Cys)
c.9225G>T (p.Trp3075Cys)
c.9216G>T (p.Trp3072Cys)
c.8712G>T (p.Trp2904Cys)
c.8643G>T (p.Trp2881Cys)
c.3429G>T (p.Trp1143Cys)
c.9279G>T (p.Trp3093Cys)
c.9159G>T (p.Trp3053Cys)
c.9090G>T (p.Trp3030Cys)
c.7494G>T (p.Trp2498Cys)
n.9630G>T
6g.51748262C>GCA364421325PKHD1c.9354G>C (p.Trp3118Cys)
c.9225G>C (p.Trp3075Cys)
c.9216G>C (p.Trp3072Cys)
c.8712G>C (p.Trp2904Cys)
c.8643G>C (p.Trp2881Cys)
c.3429G>C (p.Trp1143Cys)
c.9279G>C (p.Trp3093Cys)
c.9159G>C (p.Trp3053Cys)
c.9090G>C (p.Trp3030Cys)
c.7494G>C (p.Trp2498Cys)
n.9630G>C
6g.51748262C>TCA364421327PKHD1c.9354G>A (p.Trp3118Ter)
c.9225G>A (p.Trp3075Ter)
c.9216G>A (p.Trp3072Ter)
c.8712G>A (p.Trp2904Ter)
c.8643G>A (p.Trp2881Ter)
c.3429G>A (p.Trp1143Ter)
c.9279G>A (p.Trp3093Ter)
c.9159G>A (p.Trp3053Ter)
c.9090G>A (p.Trp3030Ter)
c.7494G>A (p.Trp2498Ter)
n.9630G>A
 gnomAD v4
6g.51748263C>ACA364421328PKHD1c.9353G>T (p.Trp3118Leu)
c.9224G>T (p.Trp3075Leu)
c.9215G>T (p.Trp3072Leu)
c.8711G>T (p.Trp2904Leu)
c.8642G>T (p.Trp2881Leu)
c.3428G>T (p.Trp1143Leu)
c.9278G>T (p.Trp3093Leu)
c.9158G>T (p.Trp3053Leu)
c.9089G>T (p.Trp3030Leu)
c.7493G>T (p.Trp2498Leu)
n.9629G>T
 dbSNP
6g.51748263C=CA1628502915PKHD1c.9353G= (p.Trp3118=)
c.9224G= (p.Trp3075=)
c.9215G= (p.Trp3072=)
c.8711G= (p.Trp2904=)
c.8642G= (p.Trp2881=)
c.3428G= (p.Trp1143=)
c.9278G= (p.Trp3093=)
c.9158G= (p.Trp3053=)
c.9089G= (p.Trp3030=)
c.7493G= (p.Trp2498=)
n.9629G=
6g.51748263C>GCA364421331PKHD1c.9353G>C (p.Trp3118Ser)
c.9224G>C (p.Trp3075Ser)
c.9215G>C (p.Trp3072Ser)
c.8711G>C (p.Trp2904Ser)
c.8642G>C (p.Trp2881Ser)
c.3428G>C (p.Trp1143Ser)
c.9278G>C (p.Trp3093Ser)
c.9158G>C (p.Trp3053Ser)
c.9089G>C (p.Trp3030Ser)
c.7493G>C (p.Trp2498Ser)
n.9629G>C
6g.51748263C>TCA364421333PKHD1c.9353G>A (p.Trp3118Ter)
c.9224G>A (p.Trp3075Ter)
c.9215G>A (p.Trp3072Ter)
c.8711G>A (p.Trp2904Ter)
c.8642G>A (p.Trp2881Ter)
c.3428G>A (p.Trp1143Ter)
c.9278G>A (p.Trp3093Ter)
c.9158G>A (p.Trp3053Ter)
c.9089G>A (p.Trp3030Ter)
c.7493G>A (p.Trp2498Ter)
n.9629G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51748264A>CCA364421336PKHD1c.9352T>G (p.Trp3118Gly)
c.9223T>G (p.Trp3075Gly)
c.9214T>G (p.Trp3072Gly)
c.8710T>G (p.Trp2904Gly)
c.8641T>G (p.Trp2881Gly)
c.3427T>G (p.Trp1143Gly)
c.9277T>G (p.Trp3093Gly)
c.9157T>G (p.Trp3053Gly)
c.9088T>G (p.Trp3030Gly)
c.7492T>G (p.Trp2498Gly)
n.9628T>G
6g.51748264A>GCA364421337PKHD1c.9352T>C (p.Trp3118Arg)
c.9223T>C (p.Trp3075Arg)
c.9214T>C (p.Trp3072Arg)
c.8710T>C (p.Trp2904Arg)
c.8641T>C (p.Trp2881Arg)
c.3427T>C (p.Trp1143Arg)
c.9277T>C (p.Trp3093Arg)
c.9157T>C (p.Trp3053Arg)
c.9088T>C (p.Trp3030Arg)
c.7492T>C (p.Trp2498Arg)
n.9628T>C
6g.51748264A>TCA364421339PKHD1c.9352T>A (p.Trp3118Arg)
c.9223T>A (p.Trp3075Arg)
c.9214T>A (p.Trp3072Arg)
c.8710T>A (p.Trp2904Arg)
c.8641T>A (p.Trp2881Arg)
c.3427T>A (p.Trp1143Arg)
c.9277T>A (p.Trp3093Arg)
c.9157T>A (p.Trp3053Arg)
c.9088T>A (p.Trp3030Arg)
c.7492T>A (p.Trp2498Arg)
n.9628T>A
 gnomAD v4
6g.51748265A>CCA450613830PKHD1c.9351T>G (p.Leu3117=)
c.9222T>G (p.Leu3074=)
c.9213T>G (p.Leu3071=)
c.8709T>G (p.Leu2903=)
c.8640T>G (p.Leu2880=)
c.3426T>G (p.Leu1142=)
c.9276T>G (p.Leu3092=)
c.9156T>G (p.Leu3052=)
c.9087T>G (p.Leu3029=)
c.7491T>G (p.Leu2497=)
n.9627T>G
6g.51748265A>GCA450613831PKHD1c.9351T>C (p.Leu3117=)
c.9222T>C (p.Leu3074=)
c.9213T>C (p.Leu3071=)
c.8709T>C (p.Leu2903=)
c.8640T>C (p.Leu2880=)
c.3426T>C (p.Leu1142=)
c.9276T>C (p.Leu3092=)
c.9156T>C (p.Leu3052=)
c.9087T>C (p.Leu3029=)
c.7491T>C (p.Leu2497=)
n.9627T>C
 gnomAD v4
6g.51748265A>TCA450613832PKHD1c.9351T>A (p.Leu3117=)
c.9222T>A (p.Leu3074=)
c.9213T>A (p.Leu3071=)
c.8709T>A (p.Leu2903=)
c.8640T>A (p.Leu2880=)
c.3426T>A (p.Leu1142=)
c.9276T>A (p.Leu3092=)
c.9156T>A (p.Leu3052=)
c.9087T>A (p.Leu3029=)
c.7491T>A (p.Leu2497=)
n.9627T>A
6g.51748266A>CCA364421342PKHD1c.9350T>G (p.Leu3117Arg)
c.9221T>G (p.Leu3074Arg)
c.9212T>G (p.Leu3071Arg)
c.8708T>G (p.Leu2903Arg)
c.8639T>G (p.Leu2880Arg)
c.3425T>G (p.Leu1142Arg)
c.9275T>G (p.Leu3092Arg)
c.9155T>G (p.Leu3052Arg)
c.9086T>G (p.Leu3029Arg)
c.7490T>G (p.Leu2497Arg)
n.9626T>G
6g.51748266A>GCA364421344PKHD1c.9350T>C (p.Leu3117Pro)
c.9221T>C (p.Leu3074Pro)
c.9212T>C (p.Leu3071Pro)
c.8708T>C (p.Leu2903Pro)
c.8639T>C (p.Leu2880Pro)
c.3425T>C (p.Leu1142Pro)
c.9275T>C (p.Leu3092Pro)
c.9155T>C (p.Leu3052Pro)
c.9086T>C (p.Leu3029Pro)
c.7490T>C (p.Leu2497Pro)
n.9626T>C
6g.51748266A>TCA364421346PKHD1c.9350T>A (p.Leu3117His)
c.9221T>A (p.Leu3074His)
c.9212T>A (p.Leu3071His)
c.8708T>A (p.Leu2903His)
c.8639T>A (p.Leu2880His)
c.3425T>A (p.Leu1142His)
c.9275T>A (p.Leu3092His)
c.9155T>A (p.Leu3052His)
c.9086T>A (p.Leu3029His)
c.7490T>A (p.Leu2497His)
n.9626T>A
6g.51748267G>ACA364421352PKHD1c.9349C>T (p.Leu3117Phe)
c.9220C>T (p.Leu3074Phe)
c.9211C>T (p.Leu3071Phe)
c.8707C>T (p.Leu2903Phe)
c.8638C>T (p.Leu2880Phe)
c.3424C>T (p.Leu1142Phe)
c.9274C>T (p.Leu3092Phe)
c.9154C>T (p.Leu3052Phe)
c.9085C>T (p.Leu3029Phe)
c.7489C>T (p.Leu2497Phe)
n.9625C>T
6g.51748267G>CCA364421354PKHD1c.9349C>G (p.Leu3117Val)
c.9220C>G (p.Leu3074Val)
c.9211C>G (p.Leu3071Val)
c.8707C>G (p.Leu2903Val)
c.8638C>G (p.Leu2880Val)
c.3424C>G (p.Leu1142Val)
c.9274C>G (p.Leu3092Val)
c.9154C>G (p.Leu3052Val)
c.9085C>G (p.Leu3029Val)
c.7489C>G (p.Leu2497Val)
n.9625C>G
6g.51748267G>TCA364421350PKHD1c.9349C>A (p.Leu3117Ile)
c.9220C>A (p.Leu3074Ile)
c.9211C>A (p.Leu3071Ile)
c.8707C>A (p.Leu2903Ile)
c.8638C>A (p.Leu2880Ile)
c.3424C>A (p.Leu1142Ile)
c.9274C>A (p.Leu3092Ile)
c.9154C>A (p.Leu3052Ile)
c.9085C>A (p.Leu3029Ile)
c.7489C>A (p.Leu2497Ile)
n.9625C>A
6g.51748267_51748268delinsGCCA1628502919PKHD1c.9348_9349delinsGC (p.Leu3116=)
c.9219_9220delinsGC (p.Leu3073=)
c.9210_9211delinsGC (p.Leu3070=)
c.8706_8707delinsGC (p.Leu2902=)
c.8637_8638delinsGC (p.Leu2879=)
c.3423_3424delinsGC (p.Leu1141=)
c.9273_9274delinsGC (p.Leu3091=)
c.9153_9154delinsGC (p.Leu3051=)
c.9084_9085delinsGC (p.Leu3028=)
c.7488_7489delinsGC (p.Leu2496=)
n.9624_9625delinsGC
6g.51748268delCA1139659317PKHD1c.9348del (p.Leu3117PhefsTer?)
c.9219del (p.Leu3074PhefsTer?)
c.9210del (p.Leu3071PhefsTer?)
c.8706del (p.Leu2903PhefsTer?)
c.8637del (p.Leu2880PhefsTer?)
c.3423del (p.Leu1142PhefsTer?)
c.9273del (p.Leu3092PhefsTer?)
c.9153del (p.Leu3052PhefsTer?)
c.9084del (p.Leu3029PhefsTer?)
c.7488del (p.Leu2497PhefsTer?)
n.9624del
 ClinVar dbSNP
6g.51748268C>ACA450613833PKHD1c.9348G>T (p.Leu3116=)
c.9219G>T (p.Leu3073=)
c.9210G>T (p.Leu3070=)
c.8706G>T (p.Leu2902=)
c.8637G>T (p.Leu2879=)
c.3423G>T (p.Leu1141=)
c.9273G>T (p.Leu3091=)
c.9153G>T (p.Leu3051=)
c.9084G>T (p.Leu3028=)
c.7488G>T (p.Leu2496=)
n.9624G>T
 dbSNP gnomAD v4 COSMIC COSMIC
6g.51748268C=CA1628502928PKHD1c.9348G= (p.Leu3116=)
c.9219G= (p.Leu3073=)
c.9210G= (p.Leu3070=)
c.8706G= (p.Leu2902=)
c.8637G= (p.Leu2879=)
c.3423G= (p.Leu1141=)
c.9273G= (p.Leu3091=)
c.9153G= (p.Leu3051=)
c.9084G= (p.Leu3028=)
c.7488G= (p.Leu2496=)
n.9624G=
6g.51748268C>GCA450613834PKHD1c.9348G>C (p.Leu3116=)
c.9219G>C (p.Leu3073=)
c.9210G>C (p.Leu3070=)
c.8706G>C (p.Leu2902=)
c.8637G>C (p.Leu2879=)
c.3423G>C (p.Leu1141=)
c.9273G>C (p.Leu3091=)
c.9153G>C (p.Leu3051=)
c.9084G>C (p.Leu3028=)
c.7488G>C (p.Leu2496=)
n.9624G>C
6g.51748268C>TCA3851404PKHD1c.9348G>A (p.Leu3116=)
c.9219G>A (p.Leu3073=)
c.9210G>A (p.Leu3070=)
c.8706G>A (p.Leu2902=)
c.8637G>A (p.Leu2879=)
c.3423G>A (p.Leu1141=)
c.9273G>A (p.Leu3091=)
c.9153G>A (p.Leu3051=)
c.9084G>A (p.Leu3028=)
c.7488G>A (p.Leu2496=)
n.9624G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748269delCA2695206428PKHD1c.9347del (p.Leu3116ArgfsTer?)
c.9218del (p.Leu3073ArgfsTer?)
c.9209del (p.Leu3070ArgfsTer?)
c.8705del (p.Leu2902ArgfsTer?)
c.8636del (p.Leu2879ArgfsTer?)
c.3422del (p.Leu1141ArgfsTer?)
c.9272del (p.Leu3091ArgfsTer?)
c.9152del (p.Leu3051ArgfsTer?)
c.9083del (p.Leu3028ArgfsTer?)
c.7487del (p.Leu2496ArgfsTer?)
n.9623del
6g.51748269A>CCA364421359PKHD1c.9347T>G (p.Leu3116Arg)
c.9218T>G (p.Leu3073Arg)
c.9209T>G (p.Leu3070Arg)
c.8705T>G (p.Leu2902Arg)
c.8636T>G (p.Leu2879Arg)
c.3422T>G (p.Leu1141Arg)
c.9272T>G (p.Leu3091Arg)
c.9152T>G (p.Leu3051Arg)
c.9083T>G (p.Leu3028Arg)
c.7487T>G (p.Leu2496Arg)
n.9623T>G
6g.51748269A>GCA364421361PKHD1c.9347T>C (p.Leu3116Pro)
c.9218T>C (p.Leu3073Pro)
c.9209T>C (p.Leu3070Pro)
c.8705T>C (p.Leu2902Pro)
c.8636T>C (p.Leu2879Pro)
c.3422T>C (p.Leu1141Pro)
c.9272T>C (p.Leu3091Pro)
c.9152T>C (p.Leu3051Pro)
c.9083T>C (p.Leu3028Pro)
c.7487T>C (p.Leu2496Pro)
n.9623T>C
6g.51748269A>TCA364421364PKHD1c.9347T>A (p.Leu3116Gln)
c.9218T>A (p.Leu3073Gln)
c.9209T>A (p.Leu3070Gln)
c.8705T>A (p.Leu2902Gln)
c.8636T>A (p.Leu2879Gln)
c.3422T>A (p.Leu1141Gln)
c.9272T>A (p.Leu3091Gln)
c.9152T>A (p.Leu3051Gln)
c.9083T>A (p.Leu3028Gln)
c.7487T>A (p.Leu2496Gln)
n.9623T>A
6g.51748270G>ACA450613835PKHD1c.9346C>T (p.Leu3116=)
c.9217C>T (p.Leu3073=)
c.9208C>T (p.Leu3070=)
c.8704C>T (p.Leu2902=)
c.8635C>T (p.Leu2879=)
c.3421C>T (p.Leu1141=)
c.9271C>T (p.Leu3091=)
c.9151C>T (p.Leu3051=)
c.9082C>T (p.Leu3028=)
c.7486C>T (p.Leu2496=)
n.9622C>T
6g.51748270G>CCA364421367PKHD1c.9346C>G (p.Leu3116Val)
c.9217C>G (p.Leu3073Val)
c.9208C>G (p.Leu3070Val)
c.8704C>G (p.Leu2902Val)
c.8635C>G (p.Leu2879Val)
c.3421C>G (p.Leu1141Val)
c.9271C>G (p.Leu3091Val)
c.9151C>G (p.Leu3051Val)
c.9082C>G (p.Leu3028Val)
c.7486C>G (p.Leu2496Val)
n.9622C>G
6g.51748270G>TCA364421368PKHD1c.9346C>A (p.Leu3116Met)
c.9217C>A (p.Leu3073Met)
c.9208C>A (p.Leu3070Met)
c.8704C>A (p.Leu2902Met)
c.8635C>A (p.Leu2879Met)
c.3421C>A (p.Leu1141Met)
c.9271C>A (p.Leu3091Met)
c.9151C>A (p.Leu3051Met)
c.9082C>A (p.Leu3028Met)
c.7486C>A (p.Leu2496Met)
n.9622C>A
6g.51748271T>ACA364421371PKHD1c.9345A>T (p.Glu3115Asp)
c.9216A>T (p.Glu3072Asp)
c.9207A>T (p.Glu3069Asp)
c.8703A>T (p.Glu2901Asp)
c.8634A>T (p.Glu2878Asp)
c.3420A>T (p.Glu1140Asp)
c.9270A>T (p.Glu3090Asp)
c.9150A>T (p.Glu3050Asp)
c.9081A>T (p.Glu3027Asp)
c.7485A>T (p.Glu2495Asp)
n.9621A>T
6g.51748271T>CCA3851405PKHD1c.9345A>G (p.Glu3115=)
c.9216A>G (p.Glu3072=)
c.9207A>G (p.Glu3069=)
c.8703A>G (p.Glu2901=)
c.8634A>G (p.Glu2878=)
c.3420A>G (p.Glu1140=)
c.9270A>G (p.Glu3090=)
c.9150A>G (p.Glu3050=)
c.9081A>G (p.Glu3027=)
c.7485A>G (p.Glu2495=)
n.9621A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748271T>GCA364421373PKHD1c.9345A>C (p.Glu3115Asp)
c.9216A>C (p.Glu3072Asp)
c.9207A>C (p.Glu3069Asp)
c.8703A>C (p.Glu2901Asp)
c.8634A>C (p.Glu2878Asp)
c.3420A>C (p.Glu1140Asp)
c.9270A>C (p.Glu3090Asp)
c.9150A>C (p.Glu3050Asp)
c.9081A>C (p.Glu3027Asp)
c.7485A>C (p.Glu2495Asp)
n.9621A>C
 gnomAD v4
6g.51748271T=CA1628502942PKHD1c.9345A= (p.Glu3115=)
c.9216A= (p.Glu3072=)
c.9207A= (p.Glu3069=)
c.8703A= (p.Glu2901=)
c.8634A= (p.Glu2878=)
c.3420A= (p.Glu1140=)
c.9270A= (p.Glu3090=)
c.9150A= (p.Glu3050=)
c.9081A= (p.Glu3027=)
c.7485A= (p.Glu2495=)
n.9621A=
6g.51748272delCA2695198859PKHD1c.9345del (p.Glu3115AspfsTer?)
c.9216del (p.Glu3072AspfsTer?)
c.9207del (p.Glu3069AspfsTer?)
c.8703del (p.Glu2901AspfsTer?)
c.8634del (p.Glu2878AspfsTer?)
c.3420del (p.Glu1140AspfsTer?)
c.9270del (p.Glu3090AspfsTer?)
c.9150del (p.Glu3050AspfsTer?)
c.9081del (p.Glu3027AspfsTer?)
c.7485del (p.Glu2495AspfsTer?)
n.9621del
 ClinVar
6g.51748272T>ACA364421377PKHD1c.9344A>T (p.Glu3115Val)
c.9215A>T (p.Glu3072Val)
c.9206A>T (p.Glu3069Val)
c.8702A>T (p.Glu2901Val)
c.8633A>T (p.Glu2878Val)
c.3419A>T (p.Glu1140Val)
c.9269A>T (p.Glu3090Val)
c.9149A>T (p.Glu3050Val)
c.9080A>T (p.Glu3027Val)
c.7484A>T (p.Glu2495Val)
n.9620A>T
6g.51748272T>CCA364421379PKHD1c.9344A>G (p.Glu3115Gly)
c.9215A>G (p.Glu3072Gly)
c.9206A>G (p.Glu3069Gly)
c.8702A>G (p.Glu2901Gly)
c.8633A>G (p.Glu2878Gly)
c.3419A>G (p.Glu1140Gly)
c.9269A>G (p.Glu3090Gly)
c.9149A>G (p.Glu3050Gly)
c.9080A>G (p.Glu3027Gly)
c.7484A>G (p.Glu2495Gly)
n.9620A>G
 dbSNP
6g.51748272T>GCA364421381PKHD1c.9344A>C (p.Glu3115Ala)
c.9215A>C (p.Glu3072Ala)
c.9206A>C (p.Glu3069Ala)
c.8702A>C (p.Glu2901Ala)
c.8633A>C (p.Glu2878Ala)
c.3419A>C (p.Glu1140Ala)
c.9269A>C (p.Glu3090Ala)
c.9149A>C (p.Glu3050Ala)
c.9080A>C (p.Glu3027Ala)
c.7484A>C (p.Glu2495Ala)
n.9620A>C
6g.51748272T=CA1628502946PKHD1c.9344A= (p.Glu3115=)
c.9215A= (p.Glu3072=)
c.9206A= (p.Glu3069=)
c.8702A= (p.Glu2901=)
c.8633A= (p.Glu2878=)
c.3419A= (p.Glu1140=)
c.9269A= (p.Glu3090=)
c.9149A= (p.Glu3050=)
c.9080A= (p.Glu3027=)
c.7484A= (p.Glu2495=)
n.9620A=
6g.51748273C>ACA364421383PKHD1c.9343G>T (p.Glu3115Ter)
c.9214G>T (p.Glu3072Ter)
c.9205G>T (p.Glu3069Ter)
c.8701G>T (p.Glu2901Ter)
c.8632G>T (p.Glu2878Ter)
c.3418G>T (p.Glu1140Ter)
c.9268G>T (p.Glu3090Ter)
c.9148G>T (p.Glu3050Ter)
c.9079G>T (p.Glu3027Ter)
c.7483G>T (p.Glu2495Ter)
n.9619G>T
6g.51748273C>GCA364421386PKHD1c.9343G>C (p.Glu3115Gln)
c.9214G>C (p.Glu3072Gln)
c.9205G>C (p.Glu3069Gln)
c.8701G>C (p.Glu2901Gln)
c.8632G>C (p.Glu2878Gln)
c.3418G>C (p.Glu1140Gln)
c.9268G>C (p.Glu3090Gln)
c.9148G>C (p.Glu3050Gln)
c.9079G>C (p.Glu3027Gln)
c.7483G>C (p.Glu2495Gln)
n.9619G>C
6g.51748273C>TCA364421389PKHD1c.9343G>A (p.Glu3115Lys)
c.9214G>A (p.Glu3072Lys)
c.9205G>A (p.Glu3069Lys)
c.8701G>A (p.Glu2901Lys)
c.8632G>A (p.Glu2878Lys)
c.3418G>A (p.Glu1140Lys)
c.9268G>A (p.Glu3090Lys)
c.9148G>A (p.Glu3050Lys)
c.9079G>A (p.Glu3027Lys)
c.7483G>A (p.Glu2495Lys)
n.9619G>A
6g.51748274A>CCA364421395PKHD1c.9342T>G (p.Cys3114Trp)
c.9213T>G (p.Cys3071Trp)
c.9204T>G (p.Cys3068Trp)
c.8700T>G (p.Cys2900Trp)
c.8631T>G (p.Cys2877Trp)
c.3417T>G (p.Cys1139Trp)
c.9267T>G (p.Cys3089Trp)
c.9147T>G (p.Cys3049Trp)
c.9078T>G (p.Cys3026Trp)
c.7482T>G (p.Cys2494Trp)
n.9618T>G
 gnomAD v4
6g.51748274A>GCA450613836PKHD1c.9342T>C (p.Cys3114=)
c.9213T>C (p.Cys3071=)
c.9204T>C (p.Cys3068=)
c.8700T>C (p.Cys2900=)
c.8631T>C (p.Cys2877=)
c.3417T>C (p.Cys1139=)
c.9267T>C (p.Cys3089=)
c.9147T>C (p.Cys3049=)
c.9078T>C (p.Cys3026=)
c.7482T>C (p.Cys2494=)
n.9618T>C
6g.51748274A>TCA364421393PKHD1c.9342T>A (p.Cys3114Ter)
c.9213T>A (p.Cys3071Ter)
c.9204T>A (p.Cys3068Ter)
c.8700T>A (p.Cys2900Ter)
c.8631T>A (p.Cys2877Ter)
c.3417T>A (p.Cys1139Ter)
c.9267T>A (p.Cys3089Ter)
c.9147T>A (p.Cys3049Ter)
c.9078T>A (p.Cys3026Ter)
c.7482T>A (p.Cys2494Ter)
n.9618T>A
6g.51748275C>ACA364421399PKHD1c.9341G>T (p.Cys3114Phe)
c.9212G>T (p.Cys3071Phe)
c.9203G>T (p.Cys3068Phe)
c.8699G>T (p.Cys2900Phe)
c.8630G>T (p.Cys2877Phe)
c.3416G>T (p.Cys1139Phe)
c.9266G>T (p.Cys3089Phe)
c.9146G>T (p.Cys3049Phe)
c.9077G>T (p.Cys3026Phe)
c.7481G>T (p.Cys2494Phe)
n.9617G>T
 dbSNP gnomAD v3 gnomAD v4
6g.51748275C=CA1628502950PKHD1c.9341G= (p.Cys3114=)
c.9212G= (p.Cys3071=)
c.9203G= (p.Cys3068=)
c.8699G= (p.Cys2900=)
c.8630G= (p.Cys2877=)
c.3416G= (p.Cys1139=)
c.9266G= (p.Cys3089=)
c.9146G= (p.Cys3049=)
c.9077G= (p.Cys3026=)
c.7481G= (p.Cys2494=)
n.9617G=
6g.51748275C>GCA364421401PKHD1c.9341G>C (p.Cys3114Ser)
c.9212G>C (p.Cys3071Ser)
c.9203G>C (p.Cys3068Ser)
c.8699G>C (p.Cys2900Ser)
c.8630G>C (p.Cys2877Ser)
c.3416G>C (p.Cys1139Ser)
c.9266G>C (p.Cys3089Ser)
c.9146G>C (p.Cys3049Ser)
c.9077G>C (p.Cys3026Ser)
c.7481G>C (p.Cys2494Ser)
n.9617G>C
6g.51748275C>TCA364421404PKHD1c.9341G>A (p.Cys3114Tyr)
c.9212G>A (p.Cys3071Tyr)
c.9203G>A (p.Cys3068Tyr)
c.8699G>A (p.Cys2900Tyr)
c.8630G>A (p.Cys2877Tyr)
c.3416G>A (p.Cys1139Tyr)
c.9266G>A (p.Cys3089Tyr)
c.9146G>A (p.Cys3049Tyr)
c.9077G>A (p.Cys3026Tyr)
c.7481G>A (p.Cys2494Tyr)
n.9617G>A
6g.51748276A>CCA364421407PKHD1c.9340T>G (p.Cys3114Gly)
c.9211T>G (p.Cys3071Gly)
c.9202T>G (p.Cys3068Gly)
c.8698T>G (p.Cys2900Gly)
c.8629T>G (p.Cys2877Gly)
c.3415T>G (p.Cys1139Gly)
c.9265T>G (p.Cys3089Gly)
c.9145T>G (p.Cys3049Gly)
c.9076T>G (p.Cys3026Gly)
c.7480T>G (p.Cys2494Gly)
n.9616T>G
6g.51748276A>GCA364421409PKHD1c.9340T>C (p.Cys3114Arg)
c.9211T>C (p.Cys3071Arg)
c.9202T>C (p.Cys3068Arg)
c.8698T>C (p.Cys2900Arg)
c.8629T>C (p.Cys2877Arg)
c.3415T>C (p.Cys1139Arg)
c.9265T>C (p.Cys3089Arg)
c.9145T>C (p.Cys3049Arg)
c.9076T>C (p.Cys3026Arg)
c.7480T>C (p.Cys2494Arg)
n.9616T>C
6g.51748276A>TCA364421411PKHD1c.9340T>A (p.Cys3114Ser)
c.9211T>A (p.Cys3071Ser)
c.9202T>A (p.Cys3068Ser)
c.8698T>A (p.Cys2900Ser)
c.8629T>A (p.Cys2877Ser)
c.3415T>A (p.Cys1139Ser)
c.9265T>A (p.Cys3089Ser)
c.9145T>A (p.Cys3049Ser)
c.9076T>A (p.Cys3026Ser)
c.7480T>A (p.Cys2494Ser)
n.9616T>A
6g.51748276_51748278delinsAAGCA1628502954PKHD1c.9338_9340delinsCTT (p.Ser3113=)
c.9209_9211delinsCTT (p.Ser3070=)
c.9200_9202delinsCTT (p.Ser3067=)
c.8696_8698delinsCTT (p.Ser2899=)
c.8627_8629delinsCTT (p.Ser2876=)
c.3413_3415delinsCTT (p.Ser1138=)
c.9263_9265delinsCTT (p.Ser3088=)
c.9143_9145delinsCTT (p.Ser3048=)
c.9074_9076delinsCTT (p.Ser3025=)
c.7478_7480delinsCTT (p.Ser2493=)
n.9614_9616delinsCTT
6g.51748277A=CA1628502957PKHD1c.9339T= (p.Ser3113=)
c.9210T= (p.Ser3070=)
c.9201T= (p.Ser3067=)
c.8697T= (p.Ser2899=)
c.8628T= (p.Ser2876=)
c.3414T= (p.Ser1138=)
c.9264T= (p.Ser3088=)
c.9144T= (p.Ser3048=)
c.9075T= (p.Ser3025=)
c.7479T= (p.Ser2493=)
n.9615T=
6g.51748277A>CCA450613837PKHD1c.9339T>G (p.Ser3113=)
c.9210T>G (p.Ser3070=)
c.9201T>G (p.Ser3067=)
c.8697T>G (p.Ser2899=)
c.8628T>G (p.Ser2876=)
c.3414T>G (p.Ser1138=)
c.9264T>G (p.Ser3088=)
c.9144T>G (p.Ser3048=)
c.9075T>G (p.Ser3025=)
c.7479T>G (p.Ser2493=)
n.9615T>G
 gnomAD v4
6g.51748277A>GCA3851406PKHD1c.9339T>C (p.Ser3113=)
c.9210T>C (p.Ser3070=)
c.9201T>C (p.Ser3067=)
c.8697T>C (p.Ser2899=)
c.8628T>C (p.Ser2876=)
c.3414T>C (p.Ser1138=)
c.9264T>C (p.Ser3088=)
c.9144T>C (p.Ser3048=)
c.9075T>C (p.Ser3025=)
c.7479T>C (p.Ser2493=)
n.9615T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748277A>TCA450613838PKHD1c.9339T>A (p.Ser3113=)
c.9210T>A (p.Ser3070=)
c.9201T>A (p.Ser3067=)
c.8697T>A (p.Ser2899=)
c.8628T>A (p.Ser2876=)
c.3414T>A (p.Ser1138=)
c.9264T>A (p.Ser3088=)
c.9144T>A (p.Ser3048=)
c.9075T>A (p.Ser3025=)
c.7479T>A (p.Ser2493=)
n.9615T>A
 ClinVar
6g.51748277_51748278delinsAGCA1628502958PKHD1c.9338_9339delinsCT (p.Ser3113=)
c.9209_9210delinsCT (p.Ser3070=)
c.9200_9201delinsCT (p.Ser3067=)
c.8696_8697delinsCT (p.Ser2899=)
c.8627_8628delinsCT (p.Ser2876=)
c.3413_3414delinsCT (p.Ser1138=)
c.9263_9264delinsCT (p.Ser3088=)
c.9143_9144delinsCT (p.Ser3048=)
c.9074_9075delinsCT (p.Ser3025=)
c.7478_7479delinsCT (p.Ser2493=)
n.9614_9615delinsCT
6g.51748279_51748280delCA138896366PKHD1c.9338_9339del (p.Ser3113LeufsTer2)
c.9209_9210del (p.Ser3070LeufsTer2)
c.9200_9201del (p.Ser3067LeufsTer2)
c.8696_8697del (p.Ser2899LeufsTer2)
c.8627_8628del (p.Ser2876LeufsTer2)
c.3413_3414del (p.Ser1138LeufsTer2)
c.9263_9264del (p.Ser3088LeufsTer2)
c.9143_9144del (p.Ser3048LeufsTer2)
c.9074_9075del (p.Ser3025LeufsTer2)
c.7478_7479del (p.Ser2493LeufsTer2)
n.9614_9615del
 dbSNP
6g.51748278delCA567636018PKHD1c.9338del (p.Ser3113PhefsTer?)
c.9209del (p.Ser3070PhefsTer?)
c.9200del (p.Ser3067PhefsTer?)
c.8696del (p.Ser2899PhefsTer?)
c.8627del (p.Ser2876PhefsTer?)
c.3413del (p.Ser1138PhefsTer?)
c.9263del (p.Ser3088PhefsTer?)
c.9143del (p.Ser3048PhefsTer?)
c.9074del (p.Ser3025PhefsTer?)
c.7478del (p.Ser2493PhefsTer?)
n.9614del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748278G>ACA364421416PKHD1c.9338C>T (p.Ser3113Phe)
c.9209C>T (p.Ser3070Phe)
c.9200C>T (p.Ser3067Phe)
c.8696C>T (p.Ser2899Phe)
c.8627C>T (p.Ser2876Phe)
c.3413C>T (p.Ser1138Phe)
c.9263C>T (p.Ser3088Phe)
c.9143C>T (p.Ser3048Phe)
c.9074C>T (p.Ser3025Phe)
c.7478C>T (p.Ser2493Phe)
n.9614C>T
 gnomAD v4
6g.51748278G>CCA364421419PKHD1c.9338C>G (p.Ser3113Cys)
c.9209C>G (p.Ser3070Cys)
c.9200C>G (p.Ser3067Cys)
c.8696C>G (p.Ser2899Cys)
c.8627C>G (p.Ser2876Cys)
c.3413C>G (p.Ser1138Cys)
c.9263C>G (p.Ser3088Cys)
c.9143C>G (p.Ser3048Cys)
c.9074C>G (p.Ser3025Cys)
c.7478C>G (p.Ser2493Cys)
n.9614C>G
6g.51748278G>TCA364421421PKHD1c.9338C>A (p.Ser3113Tyr)
c.9209C>A (p.Ser3070Tyr)
c.9200C>A (p.Ser3067Tyr)
c.8696C>A (p.Ser2899Tyr)
c.8627C>A (p.Ser2876Tyr)
c.3413C>A (p.Ser1138Tyr)
c.9263C>A (p.Ser3088Tyr)
c.9143C>A (p.Ser3048Tyr)
c.9074C>A (p.Ser3025Tyr)
c.7478C>A (p.Ser2493Tyr)
n.9614C>A
 COSMIC COSMIC
6g.51748279A>CCA364421423PKHD1c.9337T>G (p.Ser3113Ala)
c.9208T>G (p.Ser3070Ala)
c.9199T>G (p.Ser3067Ala)
c.8695T>G (p.Ser2899Ala)
c.8626T>G (p.Ser2876Ala)
c.3412T>G (p.Ser1138Ala)
c.9262T>G (p.Ser3088Ala)
c.9142T>G (p.Ser3048Ala)
c.9073T>G (p.Ser3025Ala)
c.7477T>G (p.Ser2493Ala)
n.9613T>G
6g.51748279A>GCA364421425PKHD1c.9337T>C (p.Ser3113Pro)
c.9208T>C (p.Ser3070Pro)
c.9199T>C (p.Ser3067Pro)
c.8695T>C (p.Ser2899Pro)
c.8626T>C (p.Ser2876Pro)
c.3412T>C (p.Ser1138Pro)
c.9262T>C (p.Ser3088Pro)
c.9142T>C (p.Ser3048Pro)
c.9073T>C (p.Ser3025Pro)
c.7477T>C (p.Ser2493Pro)
n.9613T>C
6g.51748279A>TCA364421427PKHD1c.9337T>A (p.Ser3113Thr)
c.9208T>A (p.Ser3070Thr)
c.9199T>A (p.Ser3067Thr)
c.8695T>A (p.Ser2899Thr)
c.8626T>A (p.Ser2876Thr)
c.3412T>A (p.Ser1138Thr)
c.9262T>A (p.Ser3088Thr)
c.9142T>A (p.Ser3048Thr)
c.9073T>A (p.Ser3025Thr)
c.7477T>A (p.Ser2493Thr)
n.9613T>A
6g.51748280G>ACA450613839PKHD1c.9336C>T (p.Ser3112=)
c.9207C>T (p.Ser3069=)
c.9198C>T (p.Ser3066=)
c.8694C>T (p.Ser2898=)
c.8625C>T (p.Ser2875=)
c.3411C>T (p.Ser1137=)
c.9261C>T (p.Ser3087=)
c.9141C>T (p.Ser3047=)
c.9072C>T (p.Ser3024=)
c.7476C>T (p.Ser2492=)
n.9612C>T
 dbSNP gnomAD v2 gnomAD v4
6g.51748280G>CCA450613840PKHD1c.9336C>G (p.Ser3112=)
c.9207C>G (p.Ser3069=)
c.9198C>G (p.Ser3066=)
c.8694C>G (p.Ser2898=)
c.8625C>G (p.Ser2875=)
c.3411C>G (p.Ser1137=)
c.9261C>G (p.Ser3087=)
c.9141C>G (p.Ser3047=)
c.9072C>G (p.Ser3024=)
c.7476C>G (p.Ser2492=)
n.9612C>G
6g.51748280G=CA1628502966PKHD1c.9336C= (p.Ser3112=)
c.9207C= (p.Ser3069=)
c.9198C= (p.Ser3066=)
c.8694C= (p.Ser2898=)
c.8625C= (p.Ser2875=)
c.3411C= (p.Ser1137=)
c.9261C= (p.Ser3087=)
c.9141C= (p.Ser3047=)
c.9072C= (p.Ser3024=)
c.7476C= (p.Ser2492=)
n.9612C=
6g.51748280G>TCA450613841PKHD1c.9336C>A (p.Ser3112=)
c.9207C>A (p.Ser3069=)
c.9198C>A (p.Ser3066=)
c.8694C>A (p.Ser2898=)
c.8625C>A (p.Ser2875=)
c.3411C>A (p.Ser1137=)
c.9261C>A (p.Ser3087=)
c.9141C>A (p.Ser3047=)
c.9072C>A (p.Ser3024=)
c.7476C>A (p.Ser2492=)
n.9612C>A
6g.51748281G>ACA364421434PKHD1c.9335C>T (p.Ser3112Phe)
c.9206C>T (p.Ser3069Phe)
c.9197C>T (p.Ser3066Phe)
c.8693C>T (p.Ser2898Phe)
c.8624C>T (p.Ser2875Phe)
c.3410C>T (p.Ser1137Phe)
c.9260C>T (p.Ser3087Phe)
c.9140C>T (p.Ser3047Phe)
c.9071C>T (p.Ser3024Phe)
c.7475C>T (p.Ser2492Phe)
n.9611C>T
 dbSNP gnomAD v2 gnomAD v4
6g.51748281G>CCA364421431PKHD1c.9335C>G (p.Ser3112Cys)
c.9206C>G (p.Ser3069Cys)
c.9197C>G (p.Ser3066Cys)
c.8693C>G (p.Ser2898Cys)
c.8624C>G (p.Ser2875Cys)
c.3410C>G (p.Ser1137Cys)
c.9260C>G (p.Ser3087Cys)
c.9140C>G (p.Ser3047Cys)
c.9071C>G (p.Ser3024Cys)
c.7475C>G (p.Ser2492Cys)
n.9611C>G
 gnomAD v4
6g.51748281G=CA1628502971PKHD1c.9335C= (p.Ser3112=)
c.9206C= (p.Ser3069=)
c.9197C= (p.Ser3066=)
c.8693C= (p.Ser2898=)
c.8624C= (p.Ser2875=)
c.3410C= (p.Ser1137=)
c.9260C= (p.Ser3087=)
c.9140C= (p.Ser3047=)
c.9071C= (p.Ser3024=)
c.7475C= (p.Ser2492=)
n.9611C=
6g.51748281G>TCA364421430PKHD1c.9335C>A (p.Ser3112Tyr)
c.9206C>A (p.Ser3069Tyr)
c.9197C>A (p.Ser3066Tyr)
c.8693C>A (p.Ser2898Tyr)
c.8624C>A (p.Ser2875Tyr)
c.3410C>A (p.Ser1137Tyr)
c.9260C>A (p.Ser3087Tyr)
c.9140C>A (p.Ser3047Tyr)
c.9071C>A (p.Ser3024Tyr)
c.7475C>A (p.Ser2492Tyr)
n.9611C>A
6g.51748282A=CA1628502974PKHD1c.9334T= (p.Ser3112=)
c.9205T= (p.Ser3069=)
c.9196T= (p.Ser3066=)
c.8692T= (p.Ser2898=)
c.8623T= (p.Ser2875=)
c.3409T= (p.Ser1137=)
c.9259T= (p.Ser3087=)
c.9139T= (p.Ser3047=)
c.9070T= (p.Ser3024=)
c.7474T= (p.Ser2492=)
n.9610T=
6g.51748282A>CCA364421437PKHD1c.9334T>G (p.Ser3112Ala)
c.9205T>G (p.Ser3069Ala)
c.9196T>G (p.Ser3066Ala)
c.8692T>G (p.Ser2898Ala)
c.8623T>G (p.Ser2875Ala)
c.3409T>G (p.Ser1137Ala)
c.9259T>G (p.Ser3087Ala)
c.9139T>G (p.Ser3047Ala)
c.9070T>G (p.Ser3024Ala)
c.7474T>G (p.Ser2492Ala)
n.9610T>G
 dbSNP gnomAD v3 gnomAD v4
6g.51748282A>GCA364421439PKHD1c.9334T>C (p.Ser3112Pro)
c.9205T>C (p.Ser3069Pro)
c.9196T>C (p.Ser3066Pro)
c.8692T>C (p.Ser2898Pro)
c.8623T>C (p.Ser2875Pro)
c.3409T>C (p.Ser1137Pro)
c.9259T>C (p.Ser3087Pro)
c.9139T>C (p.Ser3047Pro)
c.9070T>C (p.Ser3024Pro)
c.7474T>C (p.Ser2492Pro)
n.9610T>C
6g.51748282A>TCA364421441PKHD1c.9334T>A (p.Ser3112Thr)
c.9205T>A (p.Ser3069Thr)
c.9196T>A (p.Ser3066Thr)
c.8692T>A (p.Ser2898Thr)
c.8623T>A (p.Ser2875Thr)
c.3409T>A (p.Ser1137Thr)
c.9259T>A (p.Ser3087Thr)
c.9139T>A (p.Ser3047Thr)
c.9070T>A (p.Ser3024Thr)
c.7474T>A (p.Ser2492Thr)
n.9610T>A
6g.51748283G>ACA450613842PKHD1c.9333C>T (p.Cys3111=)
c.9204C>T (p.Cys3068=)
c.9195C>T (p.Cys3065=)
c.8691C>T (p.Cys2897=)
c.8622C>T (p.Cys2874=)
c.3408C>T (p.Cys1136=)
c.9258C>T (p.Cys3086=)
c.9138C>T (p.Cys3046=)
c.9069C>T (p.Cys3023=)
c.7473C>T (p.Cys2491=)
n.9609C>T
6g.51748283G>CCA364421444PKHD1c.9333C>G (p.Cys3111Trp)
c.9204C>G (p.Cys3068Trp)
c.9195C>G (p.Cys3065Trp)
c.8691C>G (p.Cys2897Trp)
c.8622C>G (p.Cys2874Trp)
c.3408C>G (p.Cys1136Trp)
c.9258C>G (p.Cys3086Trp)
c.9138C>G (p.Cys3046Trp)
c.9069C>G (p.Cys3023Trp)
c.7473C>G (p.Cys2491Trp)
n.9609C>G
6g.51748283G>TCA364421445PKHD1c.9333C>A (p.Cys3111Ter)
c.9204C>A (p.Cys3068Ter)
c.9195C>A (p.Cys3065Ter)
c.8691C>A (p.Cys2897Ter)
c.8622C>A (p.Cys2874Ter)
c.3408C>A (p.Cys1136Ter)
c.9258C>A (p.Cys3086Ter)
c.9138C>A (p.Cys3046Ter)
c.9069C>A (p.Cys3023Ter)
c.7473C>A (p.Cys2491Ter)
n.9609C>A
6g.51748284C>ACA364421448PKHD1c.9332G>T (p.Cys3111Phe)
c.9203G>T (p.Cys3068Phe)
c.9194G>T (p.Cys3065Phe)
c.8690G>T (p.Cys2897Phe)
c.8621G>T (p.Cys2874Phe)
c.3407G>T (p.Cys1136Phe)
c.9257G>T (p.Cys3086Phe)
c.9137G>T (p.Cys3046Phe)
c.9068G>T (p.Cys3023Phe)
c.7472G>T (p.Cys2491Phe)
n.9608G>T
 gnomAD v4
6g.51748284C=CA1628502977PKHD1c.9332G= (p.Cys3111=)
c.9203G= (p.Cys3068=)
c.9194G= (p.Cys3065=)
c.8690G= (p.Cys2897=)
c.8621G= (p.Cys2874=)
c.3407G= (p.Cys1136=)
c.9257G= (p.Cys3086=)
c.9137G= (p.Cys3046=)
c.9068G= (p.Cys3023=)
c.7472G= (p.Cys2491=)
n.9608G=
6g.51748284C>GCA364421450PKHD1c.9332G>C (p.Cys3111Ser)
c.9203G>C (p.Cys3068Ser)
c.9194G>C (p.Cys3065Ser)
c.8690G>C (p.Cys2897Ser)
c.8621G>C (p.Cys2874Ser)
c.3407G>C (p.Cys1136Ser)
c.9257G>C (p.Cys3086Ser)
c.9137G>C (p.Cys3046Ser)
c.9068G>C (p.Cys3023Ser)
c.7472G>C (p.Cys2491Ser)
n.9608G>C
6g.51748284C>TCA364421452PKHD1c.9332G>A (p.Cys3111Tyr)
c.9203G>A (p.Cys3068Tyr)
c.9194G>A (p.Cys3065Tyr)
c.8690G>A (p.Cys2897Tyr)
c.8621G>A (p.Cys2874Tyr)
c.3407G>A (p.Cys1136Tyr)
c.9257G>A (p.Cys3086Tyr)
c.9137G>A (p.Cys3046Tyr)
c.9068G>A (p.Cys3023Tyr)
c.7472G>A (p.Cys2491Tyr)
n.9608G>A
 dbSNP gnomAD v3 gnomAD v4
6g.51748285A>CCA364421456PKHD1c.9331T>G (p.Cys3111Gly)
c.9202T>G (p.Cys3068Gly)
c.9193T>G (p.Cys3065Gly)
c.8689T>G (p.Cys2897Gly)
c.8620T>G (p.Cys2874Gly)
c.3406T>G (p.Cys1136Gly)
c.9256T>G (p.Cys3086Gly)
c.9136T>G (p.Cys3046Gly)
c.9067T>G (p.Cys3023Gly)
c.7471T>G (p.Cys2491Gly)
n.9607T>G
6g.51748285A>GCA364421457PKHD1c.9331T>C (p.Cys3111Arg)
c.9202T>C (p.Cys3068Arg)
c.9193T>C (p.Cys3065Arg)
c.8689T>C (p.Cys2897Arg)
c.8620T>C (p.Cys2874Arg)
c.3406T>C (p.Cys1136Arg)
c.9256T>C (p.Cys3086Arg)
c.9136T>C (p.Cys3046Arg)
c.9067T>C (p.Cys3023Arg)
c.7471T>C (p.Cys2491Arg)
n.9607T>C
6g.51748285A>TCA364421458PKHD1c.9331T>A (p.Cys3111Ser)
c.9202T>A (p.Cys3068Ser)
c.9193T>A (p.Cys3065Ser)
c.8689T>A (p.Cys2897Ser)
c.8620T>A (p.Cys2874Ser)
c.3406T>A (p.Cys1136Ser)
c.9256T>A (p.Cys3086Ser)
c.9136T>A (p.Cys3046Ser)
c.9067T>A (p.Cys3023Ser)
c.7471T>A (p.Cys2491Ser)
n.9607T>A
6g.51748286C>ACA364421460PKHD1c.9330G>T (p.Lys3110Asn)
c.9201G>T (p.Lys3067Asn)
c.9192G>T (p.Lys3064Asn)
c.8688G>T (p.Lys2896Asn)
c.8619G>T (p.Lys2873Asn)
c.3405G>T (p.Lys1135Asn)
c.9255G>T (p.Lys3085Asn)
c.9135G>T (p.Lys3045Asn)
c.9066G>T (p.Lys3022Asn)
c.7470G>T (p.Lys2490Asn)
n.9606G>T
6g.51748286C=CA1628502983PKHD1c.9330G= (p.Lys3110=)
c.9201G= (p.Lys3067=)
c.9192G= (p.Lys3064=)
c.8688G= (p.Lys2896=)
c.8619G= (p.Lys2873=)
c.3405G= (p.Lys1135=)
c.9255G= (p.Lys3085=)
c.9135G= (p.Lys3045=)
c.9066G= (p.Lys3022=)
c.7470G= (p.Lys2490=)
n.9606G=
6g.51748286C>GCA364421462PKHD1c.9330G>C (p.Lys3110Asn)
c.9201G>C (p.Lys3067Asn)
c.9192G>C (p.Lys3064Asn)
c.8688G>C (p.Lys2896Asn)
c.8619G>C (p.Lys2873Asn)
c.3405G>C (p.Lys1135Asn)
c.9255G>C (p.Lys3085Asn)
c.9135G>C (p.Lys3045Asn)
c.9066G>C (p.Lys3022Asn)
c.7470G>C (p.Lys2490Asn)
n.9606G>C
6g.51748286C>TCA450613843PKHD1c.9330G>A (p.Lys3110=)
c.9201G>A (p.Lys3067=)
c.9192G>A (p.Lys3064=)
c.8688G>A (p.Lys2896=)
c.8619G>A (p.Lys2873=)
c.3405G>A (p.Lys1135=)
c.9255G>A (p.Lys3085=)
c.9135G>A (p.Lys3045=)
c.9066G>A (p.Lys3022=)
c.7470G>A (p.Lys2490=)
n.9606G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748287T>ACA364421467PKHD1c.9329A>T (p.Lys3110Met)
c.9200A>T (p.Lys3067Met)
c.9191A>T (p.Lys3064Met)
c.8687A>T (p.Lys2896Met)
c.8618A>T (p.Lys2873Met)
c.3404A>T (p.Lys1135Met)
c.9254A>T (p.Lys3085Met)
c.9134A>T (p.Lys3045Met)
c.9065A>T (p.Lys3022Met)
c.7469A>T (p.Lys2490Met)
n.9605A>T
6g.51748287T>CCA364421471PKHD1c.9329A>G (p.Lys3110Arg)
c.9200A>G (p.Lys3067Arg)
c.9191A>G (p.Lys3064Arg)
c.8687A>G (p.Lys2896Arg)
c.8618A>G (p.Lys2873Arg)
c.3404A>G (p.Lys1135Arg)
c.9254A>G (p.Lys3085Arg)
c.9134A>G (p.Lys3045Arg)
c.9065A>G (p.Lys3022Arg)
c.7469A>G (p.Lys2490Arg)
n.9605A>G
 dbSNP gnomAD v3 gnomAD v4
6g.51748287T>GCA364421464PKHD1c.9329A>C (p.Lys3110Thr)
c.9200A>C (p.Lys3067Thr)
c.9191A>C (p.Lys3064Thr)
c.8687A>C (p.Lys2896Thr)
c.8618A>C (p.Lys2873Thr)
c.3404A>C (p.Lys1135Thr)
c.9254A>C (p.Lys3085Thr)
c.9134A>C (p.Lys3045Thr)
c.9065A>C (p.Lys3022Thr)
c.7469A>C (p.Lys2490Thr)
n.9605A>C
6g.51748287T=CA1628502985PKHD1c.9329A= (p.Lys3110=)
c.9200A= (p.Lys3067=)
c.9191A= (p.Lys3064=)
c.8687A= (p.Lys2896=)
c.8618A= (p.Lys2873=)
c.3404A= (p.Lys1135=)
c.9254A= (p.Lys3085=)
c.9134A= (p.Lys3045=)
c.9065A= (p.Lys3022=)
c.7469A= (p.Lys2490=)
n.9605A=
6g.51748288dupCA2580075447PKHD1c.9329dup (p.Cys3111ValfsTer5)
c.9200dup (p.Cys3068ValfsTer5)
c.9191dup (p.Cys3065ValfsTer5)
c.8687dup (p.Cys2897ValfsTer5)
c.8618dup (p.Cys2874ValfsTer5)
c.3404dup (p.Cys1136ValfsTer5)
c.9254dup (p.Cys3086ValfsTer5)
c.9134dup (p.Cys3046ValfsTer5)
c.9065dup (p.Cys3023ValfsTer5)
c.7469dup (p.Cys2491ValfsTer5)
n.9605dup
 ClinVar
6g.51748288T>ACA364421473PKHD1c.9328A>T (p.Lys3110Ter)
c.9199A>T (p.Lys3067Ter)
c.9190A>T (p.Lys3064Ter)
c.8686A>T (p.Lys2896Ter)
c.8617A>T (p.Lys2873Ter)
c.3403A>T (p.Lys1135Ter)
c.9253A>T (p.Lys3085Ter)
c.9133A>T (p.Lys3045Ter)
c.9064A>T (p.Lys3022Ter)
c.7468A>T (p.Lys2490Ter)
n.9604A>T
6g.51748288T>CCA364421474PKHD1c.9328A>G (p.Lys3110Glu)
c.9199A>G (p.Lys3067Glu)
c.9190A>G (p.Lys3064Glu)
c.8686A>G (p.Lys2896Glu)
c.8617A>G (p.Lys2873Glu)
c.3403A>G (p.Lys1135Glu)
c.9253A>G (p.Lys3085Glu)
c.9133A>G (p.Lys3045Glu)
c.9064A>G (p.Lys3022Glu)
c.7468A>G (p.Lys2490Glu)
n.9604A>G
6g.51748288T>GCA364421480PKHD1c.9328A>C (p.Lys3110Gln)
c.9199A>C (p.Lys3067Gln)
c.9190A>C (p.Lys3064Gln)
c.8686A>C (p.Lys2896Gln)
c.8617A>C (p.Lys2873Gln)
c.3403A>C (p.Lys1135Gln)
c.9253A>C (p.Lys3085Gln)
c.9133A>C (p.Lys3045Gln)
c.9064A>C (p.Lys3022Gln)
c.7468A>C (p.Lys2490Gln)
n.9604A>C
6g.51748289G>ACA450613844PKHD1c.9327C>T (p.His3109=)
c.9198C>T (p.His3066=)
c.9189C>T (p.His3063=)
c.8685C>T (p.His2895=)
c.8616C>T (p.His2872=)
c.3402C>T (p.His1134=)
c.9252C>T (p.His3084=)
c.9132C>T (p.His3044=)
c.9063C>T (p.His3021=)
c.7467C>T (p.His2489=)
n.9603C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748289G>CCA364421483PKHD1c.9327C>G (p.His3109Gln)
c.9198C>G (p.His3066Gln)
c.9189C>G (p.His3063Gln)
c.8685C>G (p.His2895Gln)
c.8616C>G (p.His2872Gln)
c.3402C>G (p.His1134Gln)
c.9252C>G (p.His3084Gln)
c.9132C>G (p.His3044Gln)
c.9063C>G (p.His3021Gln)
c.7467C>G (p.His2489Gln)
n.9603C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51748289G=CA1628502988PKHD1c.9327C= (p.His3109=)
c.9198C= (p.His3066=)
c.9189C= (p.His3063=)
c.8685C= (p.His2895=)
c.8616C= (p.His2872=)
c.3402C= (p.His1134=)
c.9252C= (p.His3084=)
c.9132C= (p.His3044=)
c.9063C= (p.His3021=)
c.7467C= (p.His2489=)
n.9603C=
6g.51748289G>TCA364421486PKHD1c.9327C>A (p.His3109Gln)
c.9198C>A (p.His3066Gln)
c.9189C>A (p.His3063Gln)
c.8685C>A (p.His2895Gln)
c.8616C>A (p.His2872Gln)
c.3402C>A (p.His1134Gln)
c.9252C>A (p.His3084Gln)
c.9132C>A (p.His3044Gln)
c.9063C>A (p.His3021Gln)
c.7467C>A (p.His2489Gln)
n.9603C>A
6g.51748290T>ACA364421494PKHD1c.9326A>T (p.His3109Leu)
c.9197A>T (p.His3066Leu)
c.9188A>T (p.His3063Leu)
c.8684A>T (p.His2895Leu)
c.8615A>T (p.His2872Leu)
c.3401A>T (p.His1134Leu)
c.9251A>T (p.His3084Leu)
c.9131A>T (p.His3044Leu)
c.9062A>T (p.His3021Leu)
c.7466A>T (p.His2489Leu)
n.9602A>T
6g.51748290T>CCA364421489PKHD1c.9326A>G (p.His3109Arg)
c.9197A>G (p.His3066Arg)
c.9188A>G (p.His3063Arg)
c.8684A>G (p.His2895Arg)
c.8615A>G (p.His2872Arg)
c.3401A>G (p.His1134Arg)
c.9251A>G (p.His3084Arg)
c.9131A>G (p.His3044Arg)
c.9062A>G (p.His3021Arg)
c.7466A>G (p.His2489Arg)
n.9602A>G
 dbSNP gnomAD v3 gnomAD v4
6g.51748290T>GCA364421492PKHD1c.9326A>C (p.His3109Pro)
c.9197A>C (p.His3066Pro)
c.9188A>C (p.His3063Pro)
c.8684A>C (p.His2895Pro)
c.8615A>C (p.His2872Pro)
c.3401A>C (p.His1134Pro)
c.9251A>C (p.His3084Pro)
c.9131A>C (p.His3044Pro)
c.9062A>C (p.His3021Pro)
c.7466A>C (p.His2489Pro)
n.9602A>C
6g.51748290T=CA1628502992PKHD1c.9326A= (p.His3109=)
c.9197A= (p.His3066=)
c.9188A= (p.His3063=)
c.8684A= (p.His2895=)
c.8615A= (p.His2872=)
c.3401A= (p.His1134=)
c.9251A= (p.His3084=)
c.9131A= (p.His3044=)
c.9062A= (p.His3021=)
c.7466A= (p.His2489=)
n.9602A=
6g.51748291G>ACA364421498PKHD1c.9325C>T (p.His3109Tyr)
c.9196C>T (p.His3066Tyr)
c.9187C>T (p.His3063Tyr)
c.8683C>T (p.His2895Tyr)
c.8614C>T (p.His2872Tyr)
c.3400C>T (p.His1134Tyr)
c.9250C>T (p.His3084Tyr)
c.9130C>T (p.His3044Tyr)
c.9061C>T (p.His3021Tyr)
c.7465C>T (p.His2489Tyr)
n.9601C>T
6g.51748291G>CCA364421503PKHD1c.9325C>G (p.His3109Asp)
c.9196C>G (p.His3066Asp)
c.9187C>G (p.His3063Asp)
c.8683C>G (p.His2895Asp)
c.8614C>G (p.His2872Asp)
c.3400C>G (p.His1134Asp)
c.9250C>G (p.His3084Asp)
c.9130C>G (p.His3044Asp)
c.9061C>G (p.His3021Asp)
c.7465C>G (p.His2489Asp)
n.9601C>G
6g.51748291G>TCA364421506PKHD1c.9325C>A (p.His3109Asn)
c.9196C>A (p.His3066Asn)
c.9187C>A (p.His3063Asn)
c.8683C>A (p.His2895Asn)
c.8614C>A (p.His2872Asn)
c.3400C>A (p.His1134Asn)
c.9250C>A (p.His3084Asn)
c.9130C>A (p.His3044Asn)
c.9061C>A (p.His3021Asn)
c.7465C>A (p.His2489Asn)
n.9601C>A
6g.51748292G>ACA450613847PKHD1c.9324C>T (p.Gly3108=)
c.9195C>T (p.Gly3065=)
c.9186C>T (p.Gly3062=)
c.8682C>T (p.Gly2894=)
c.8613C>T (p.Gly2871=)
c.3399C>T (p.Gly1133=)
c.9249C>T (p.Gly3083=)
c.9129C>T (p.Gly3043=)
c.9060C>T (p.Gly3020=)
c.7464C>T (p.Gly2488=)
n.9600C>T
6g.51748292G>CCA450613846PKHD1c.9324C>G (p.Gly3108=)
c.9195C>G (p.Gly3065=)
c.9186C>G (p.Gly3062=)
c.8682C>G (p.Gly2894=)
c.8613C>G (p.Gly2871=)
c.3399C>G (p.Gly1133=)
c.9249C>G (p.Gly3083=)
c.9129C>G (p.Gly3043=)
c.9060C>G (p.Gly3020=)
c.7464C>G (p.Gly2488=)
n.9600C>G
6g.51748292G>TCA450613845PKHD1c.9324C>A (p.Gly3108=)
c.9195C>A (p.Gly3065=)
c.9186C>A (p.Gly3062=)
c.8682C>A (p.Gly2894=)
c.8613C>A (p.Gly2871=)
c.3399C>A (p.Gly1133=)
c.9249C>A (p.Gly3083=)
c.9129C>A (p.Gly3043=)
c.9060C>A (p.Gly3020=)
c.7464C>A (p.Gly2488=)
n.9600C>A
 dbSNP
6g.51748293C>ACA364421510PKHD1c.9323G>T (p.Gly3108Val)
c.9194G>T (p.Gly3065Val)
c.9185G>T (p.Gly3062Val)
c.8681G>T (p.Gly2894Val)
c.8612G>T (p.Gly2871Val)
c.3398G>T (p.Gly1133Val)
c.9248G>T (p.Gly3083Val)
c.9128G>T (p.Gly3043Val)
c.9059G>T (p.Gly3020Val)
c.7463G>T (p.Gly2488Val)
n.9599G>T
 gnomAD v4
6g.51748293C=CA1628502995PKHD1c.9323G= (p.Gly3108=)
c.9194G= (p.Gly3065=)
c.9185G= (p.Gly3062=)
c.8681G= (p.Gly2894=)
c.8612G= (p.Gly2871=)
c.3398G= (p.Gly1133=)
c.9248G= (p.Gly3083=)
c.9128G= (p.Gly3043=)
c.9059G= (p.Gly3020=)
c.7463G= (p.Gly2488=)
n.9599G=
6g.51748293C>GCA364421514PKHD1c.9323G>C (p.Gly3108Ala)
c.9194G>C (p.Gly3065Ala)
c.9185G>C (p.Gly3062Ala)
c.8681G>C (p.Gly2894Ala)
c.8612G>C (p.Gly2871Ala)
c.3398G>C (p.Gly1133Ala)
c.9248G>C (p.Gly3083Ala)
c.9128G>C (p.Gly3043Ala)
c.9059G>C (p.Gly3020Ala)
c.7463G>C (p.Gly2488Ala)
n.9599G>C
 gnomAD v4
6g.51748293C>TCA3851407PKHD1c.9323G>A (p.Gly3108Asp)
c.9194G>A (p.Gly3065Asp)
c.9185G>A (p.Gly3062Asp)
c.8681G>A (p.Gly2894Asp)
c.8612G>A (p.Gly2871Asp)
c.3398G>A (p.Gly1133Asp)
c.9248G>A (p.Gly3083Asp)
c.9128G>A (p.Gly3043Asp)
c.9059G>A (p.Gly3020Asp)
c.7463G>A (p.Gly2488Asp)
n.9599G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748294C>ACA364421525PKHD1c.9322G>T (p.Gly3108Cys)
c.9193G>T (p.Gly3065Cys)
c.9184G>T (p.Gly3062Cys)
c.8680G>T (p.Gly2894Cys)
c.8611G>T (p.Gly2871Cys)
c.3397G>T (p.Gly1133Cys)
c.9247G>T (p.Gly3083Cys)
c.9127G>T (p.Gly3043Cys)
c.9058G>T (p.Gly3020Cys)
c.7462G>T (p.Gly2488Cys)
n.9598G>T
6g.51748294C>GCA364421528PKHD1c.9322G>C (p.Gly3108Arg)
c.9193G>C (p.Gly3065Arg)
c.9184G>C (p.Gly3062Arg)
c.8680G>C (p.Gly2894Arg)
c.8611G>C (p.Gly2871Arg)
c.3397G>C (p.Gly1133Arg)
c.9247G>C (p.Gly3083Arg)
c.9127G>C (p.Gly3043Arg)
c.9058G>C (p.Gly3020Arg)
c.7462G>C (p.Gly2488Arg)
n.9598G>C
6g.51748294C>TCA364421519PKHD1c.9322G>A (p.Gly3108Ser)
c.9193G>A (p.Gly3065Ser)
c.9184G>A (p.Gly3062Ser)
c.8680G>A (p.Gly2894Ser)
c.8611G>A (p.Gly2871Ser)
c.3397G>A (p.Gly1133Ser)
c.9247G>A (p.Gly3083Ser)
c.9127G>A (p.Gly3043Ser)
c.9058G>A (p.Gly3020Ser)
c.7462G>A (p.Gly2488Ser)
n.9598G>A
 gnomAD v4
6g.51748295T>ACA450613848PKHD1c.9321A>T (p.Arg3107=)
c.9192A>T (p.Arg3064=)
c.9183A>T (p.Arg3061=)
c.8679A>T (p.Arg2893=)
c.8610A>T (p.Arg2870=)
c.3396A>T (p.Arg1132=)
c.9246A>T (p.Arg3082=)
c.9126A>T (p.Arg3042=)
c.9057A>T (p.Arg3019=)
c.7461A>T (p.Arg2487=)
n.9597A>T
6g.51748295T>CCA450613849PKHD1c.9321A>G (p.Arg3107=)
c.9192A>G (p.Arg3064=)
c.9183A>G (p.Arg3061=)
c.8679A>G (p.Arg2893=)
c.8610A>G (p.Arg2870=)
c.3396A>G (p.Arg1132=)
c.9246A>G (p.Arg3082=)
c.9126A>G (p.Arg3042=)
c.9057A>G (p.Arg3019=)
c.7461A>G (p.Arg2487=)
n.9597A>G
6g.51748295T>GCA450613850PKHD1c.9321A>C (p.Arg3107=)
c.9192A>C (p.Arg3064=)
c.9183A>C (p.Arg3061=)
c.8679A>C (p.Arg2893=)
c.8610A>C (p.Arg2870=)
c.3396A>C (p.Arg1132=)
c.9246A>C (p.Arg3082=)
c.9126A>C (p.Arg3042=)
c.9057A>C (p.Arg3019=)
c.7461A>C (p.Arg2487=)
n.9597A>C
6g.51748296C>ACA364421536PKHD1c.9320G>T (p.Arg3107Leu)
c.9191G>T (p.Arg3064Leu)
c.9182G>T (p.Arg3061Leu)
c.8678G>T (p.Arg2893Leu)
c.8609G>T (p.Arg2870Leu)
c.3395G>T (p.Arg1132Leu)
c.9245G>T (p.Arg3082Leu)
c.9125G>T (p.Arg3042Leu)
c.9056G>T (p.Arg3019Leu)
c.7460G>T (p.Arg2487Leu)
n.9596G>T
 gnomAD v4
6g.51748296C=CA1628502999PKHD1c.9320G= (p.Arg3107=)
c.9191G= (p.Arg3064=)
c.9182G= (p.Arg3061=)
c.8678G= (p.Arg2893=)
c.8609G= (p.Arg2870=)
c.3395G= (p.Arg1132=)
c.9245G= (p.Arg3082=)
c.9125G= (p.Arg3042=)
c.9056G= (p.Arg3019=)
c.7460G= (p.Arg2487=)
n.9596G=
6g.51748296C>GCA364421533PKHD1c.9320G>C (p.Arg3107Pro)
c.9191G>C (p.Arg3064Pro)
c.9182G>C (p.Arg3061Pro)
c.8678G>C (p.Arg2893Pro)
c.8609G>C (p.Arg2870Pro)
c.3395G>C (p.Arg1132Pro)
c.9245G>C (p.Arg3082Pro)
c.9125G>C (p.Arg3042Pro)
c.9056G>C (p.Arg3019Pro)
c.7460G>C (p.Arg2487Pro)
n.9596G>C
6g.51748296C>TCA3851408PKHD1c.9320G>A (p.Arg3107Gln)
c.9191G>A (p.Arg3064Gln)
c.9182G>A (p.Arg3061Gln)
c.8678G>A (p.Arg2893Gln)
c.8609G>A (p.Arg2870Gln)
c.3395G>A (p.Arg1132Gln)
c.9245G>A (p.Arg3082Gln)
c.9125G>A (p.Arg3042Gln)
c.9056G>A (p.Arg3019Gln)
c.7460G>A (p.Arg2487Gln)
n.9596G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51748297G>ACA274366PKHD1c.9319C>T (p.Arg3107Ter)
c.9190C>T (p.Arg3064Ter)
c.9181C>T (p.Arg3061Ter)
c.8677C>T (p.Arg2893Ter)
c.8608C>T (p.Arg2870Ter)
c.3394C>T (p.Arg1132Ter)
c.9244C>T (p.Arg3082Ter)
c.9124C>T (p.Arg3042Ter)
c.9055C>T (p.Arg3019Ter)
c.7459C>T (p.Arg2487Ter)
n.9595C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51748297G>CCA364421546PKHD1c.9319C>G (p.Arg3107Gly)
c.9190C>G (p.Arg3064Gly)
c.9181C>G (p.Arg3061Gly)
c.8677C>G (p.Arg2893Gly)
c.8608C>G (p.Arg2870Gly)
c.3394C>G (p.Arg1132Gly)
c.9244C>G (p.Arg3082Gly)
c.9124C>G (p.Arg3042Gly)
c.9055C>G (p.Arg3019Gly)
c.7459C>G (p.Arg2487Gly)
n.9595C>G
6g.51748297G=CA1628503007PKHD1c.9319C= (p.Arg3107=)
c.9190C= (p.Arg3064=)
c.9181C= (p.Arg3061=)
c.8677C= (p.Arg2893=)
c.8608C= (p.Arg2870=)
c.3394C= (p.Arg1132=)
c.9244C= (p.Arg3082=)
c.9124C= (p.Arg3042=)
c.9055C= (p.Arg3019=)
c.7459C= (p.Arg2487=)
n.9595C=
6g.51748297G>TCA450613851PKHD1c.9319C>A (p.Arg3107=)
c.9190C>A (p.Arg3064=)
c.9181C>A (p.Arg3061=)
c.8677C>A (p.Arg2893=)
c.8608C>A (p.Arg2870=)
c.3394C>A (p.Arg1132=)
c.9244C>A (p.Arg3082=)
c.9124C>A (p.Arg3042=)
c.9055C>A (p.Arg3019=)
c.7459C>A (p.Arg2487=)
n.9595C>A
 ClinVar
6g.51748298G>ACA450613852PKHD1c.9318C>T (p.Ile3106=)
c.9189C>T (p.Ile3063=)
c.9180C>T (p.Ile3060=)
c.8676C>T (p.Ile2892=)
c.8607C>T (p.Ile2869=)
c.3393C>T (p.Ile1131=)
c.9243C>T (p.Ile3081=)
c.9123C>T (p.Ile3041=)
c.9054C>T (p.Ile3018=)
c.7458C>T (p.Ile2486=)
n.9594C>T
 ClinVar
6g.51748298G>CCA364421549PKHD1c.9318C>G (p.Ile3106Met)
c.9189C>G (p.Ile3063Met)
c.9180C>G (p.Ile3060Met)
c.8676C>G (p.Ile2892Met)
c.8607C>G (p.Ile2869Met)
c.3393C>G (p.Ile1131Met)
c.9243C>G (p.Ile3081Met)
c.9123C>G (p.Ile3041Met)
c.9054C>G (p.Ile3018Met)
c.7458C>G (p.Ile2486Met)
n.9594C>G
6g.51748298G>TCA450613853PKHD1c.9318C>A (p.Ile3106=)
c.9189C>A (p.Ile3063=)
c.9180C>A (p.Ile3060=)
c.8676C>A (p.Ile2892=)
c.8607C>A (p.Ile2869=)
c.3393C>A (p.Ile1131=)
c.9243C>A (p.Ile3081=)
c.9123C>A (p.Ile3041=)
c.9054C>A (p.Ile3018=)
c.7458C>A (p.Ile2486=)
n.9594C>A
6g.51748299A>CCA364421567PKHD1c.9317T>G (p.Ile3106Ser)
c.9188T>G (p.Ile3063Ser)
c.9179T>G (p.Ile3060Ser)
c.8675T>G (p.Ile2892Ser)
c.8606T>G (p.Ile2869Ser)
c.3392T>G (p.Ile1131Ser)
c.9242T>G (p.Ile3081Ser)
c.9122T>G (p.Ile3041Ser)
c.9053T>G (p.Ile3018Ser)
c.7457T>G (p.Ile2486Ser)
n.9593T>G
6g.51748299A>GCA364421556PKHD1c.9317T>C (p.Ile3106Thr)
c.9188T>C (p.Ile3063Thr)
c.9179T>C (p.Ile3060Thr)
c.8675T>C (p.Ile2892Thr)
c.8606T>C (p.Ile2869Thr)
c.3392T>C (p.Ile1131Thr)
c.9242T>C (p.Ile3081Thr)
c.9122T>C (p.Ile3041Thr)
c.9053T>C (p.Ile3018Thr)
c.7457T>C (p.Ile2486Thr)
n.9593T>C
6g.51748299A>TCA364421573PKHD1c.9317T>A (p.Ile3106Asn)
c.9188T>A (p.Ile3063Asn)
c.9179T>A (p.Ile3060Asn)
c.8675T>A (p.Ile2892Asn)
c.8606T>A (p.Ile2869Asn)
c.3392T>A (p.Ile1131Asn)
c.9242T>A (p.Ile3081Asn)
c.9122T>A (p.Ile3041Asn)
c.9053T>A (p.Ile3018Asn)
c.7457T>A (p.Ile2486Asn)
n.9593T>A
6g.51748300T>ACA3851409PKHD1c.9316A>T (p.Ile3106Phe)
c.9187A>T (p.Ile3063Phe)
c.9178A>T (p.Ile3060Phe)
c.8674A>T (p.Ile2892Phe)
c.8605A>T (p.Ile2869Phe)
c.3391A>T (p.Ile1131Phe)
c.9241A>T (p.Ile3081Phe)
c.9121A>T (p.Ile3041Phe)
c.9052A>T (p.Ile3018Phe)
c.7456A>T (p.Ile2486Phe)
n.9592A>T
 dbSNP ExAC gnomAD v2
6g.51748300T>CCA364422251PKHD1c.9316A>G (p.Ile3106Val)
c.9187A>G (p.Ile3063Val)
c.9178A>G (p.Ile3060Val)
c.8674A>G (p.Ile2892Val)
c.8605A>G (p.Ile2869Val)
c.3391A>G (p.Ile1131Val)
c.9241A>G (p.Ile3081Val)
c.9121A>G (p.Ile3041Val)
c.9052A>G (p.Ile3018Val)
c.7456A>G (p.Ile2486Val)
n.9592A>G
6g.51748300T>GCA364422252PKHD1c.9316A>C (p.Ile3106Leu)
c.9187A>C (p.Ile3063Leu)
c.9178A>C (p.Ile3060Leu)
c.8674A>C (p.Ile2892Leu)
c.8605A>C (p.Ile2869Leu)
c.3391A>C (p.Ile1131Leu)
c.9241A>C (p.Ile3081Leu)
c.9121A>C (p.Ile3041Leu)
c.9052A>C (p.Ile3018Leu)
c.7456A>C (p.Ile2486Leu)
n.9592A>C
6g.51748300T=CA1628503026PKHD1c.9316A= (p.Ile3106=)
c.9187A= (p.Ile3063=)
c.9178A= (p.Ile3060=)
c.8674A= (p.Ile2892=)
c.8605A= (p.Ile2869=)
c.3391A= (p.Ile1131=)
c.9241A= (p.Ile3081=)
c.9121A= (p.Ile3041=)
c.9052A= (p.Ile3018=)
c.7456A= (p.Ile2486=)
n.9592A=
6g.51748301G>ACA450613490PKHD1c.9315C>T (p.His3105=)
c.9186C>T (p.His3062=)
c.9177C>T (p.His3059=)
c.8673C>T (p.His2891=)
c.8604C>T (p.His2868=)
c.3390C>T (p.His1130=)
c.9240C>T (p.His3080=)
c.9120C>T (p.His3040=)
c.9051C>T (p.His3017=)
c.7455C>T (p.His2485=)
n.9591C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748301G>CCA364422253PKHD1c.9315C>G (p.His3105Gln)
c.9186C>G (p.His3062Gln)
c.9177C>G (p.His3059Gln)
c.8673C>G (p.His2891Gln)
c.8604C>G (p.His2868Gln)
c.3390C>G (p.His1130Gln)
c.9240C>G (p.His3080Gln)
c.9120C>G (p.His3040Gln)
c.9051C>G (p.His3017Gln)
c.7455C>G (p.His2485Gln)
n.9591C>G
6g.51748301G=CA1628503032PKHD1c.9315C= (p.His3105=)
c.9186C= (p.His3062=)
c.9177C= (p.His3059=)
c.8673C= (p.His2891=)
c.8604C= (p.His2868=)
c.3390C= (p.His1130=)
c.9240C= (p.His3080=)
c.9120C= (p.His3040=)
c.9051C= (p.His3017=)
c.7455C= (p.His2485=)
n.9591C=
6g.51748301G>TCA364422254PKHD1c.9315C>A (p.His3105Gln)
c.9186C>A (p.His3062Gln)
c.9177C>A (p.His3059Gln)
c.8673C>A (p.His2891Gln)
c.8604C>A (p.His2868Gln)
c.3390C>A (p.His1130Gln)
c.9240C>A (p.His3080Gln)
c.9120C>A (p.His3040Gln)
c.9051C>A (p.His3017Gln)
c.7455C>A (p.His2485Gln)
n.9591C>A
6g.51748302T>ACA364422255PKHD1c.9314A>T (p.His3105Leu)
c.9185A>T (p.His3062Leu)
c.9176A>T (p.His3059Leu)
c.8672A>T (p.His2891Leu)
c.8603A>T (p.His2868Leu)
c.3389A>T (p.His1130Leu)
c.9239A>T (p.His3080Leu)
c.9119A>T (p.His3040Leu)
c.9050A>T (p.His3017Leu)
c.7454A>T (p.His2485Leu)
n.9590A>T
6g.51748302T>CCA364422256PKHD1c.9314A>G (p.His3105Arg)
c.9185A>G (p.His3062Arg)
c.9176A>G (p.His3059Arg)
c.8672A>G (p.His2891Arg)
c.8603A>G (p.His2868Arg)
c.3389A>G (p.His1130Arg)
c.9239A>G (p.His3080Arg)
c.9119A>G (p.His3040Arg)
c.9050A>G (p.His3017Arg)
c.7454A>G (p.His2485Arg)
n.9590A>G
6g.51748302T>GCA364422257PKHD1c.9314A>C (p.His3105Pro)
c.9185A>C (p.His3062Pro)
c.9176A>C (p.His3059Pro)
c.8672A>C (p.His2891Pro)
c.8603A>C (p.His2868Pro)
c.3389A>C (p.His1130Pro)
c.9239A>C (p.His3080Pro)
c.9119A>C (p.His3040Pro)
c.9050A>C (p.His3017Pro)
c.7454A>C (p.His2485Pro)
n.9590A>C
 dbSNP
6g.51748302T=CA1628503039PKHD1c.9314A= (p.His3105=)
c.9185A= (p.His3062=)
c.9176A= (p.His3059=)
c.8672A= (p.His2891=)
c.8603A= (p.His2868=)
c.3389A= (p.His1130=)
c.9239A= (p.His3080=)
c.9119A= (p.His3040=)
c.9050A= (p.His3017=)
c.7454A= (p.His2485=)
n.9590A=
6g.51748303G>ACA364422258PKHD1c.9313C>T (p.His3105Tyr)
c.9184C>T (p.His3062Tyr)
c.9175C>T (p.His3059Tyr)
c.8671C>T (p.His2891Tyr)
c.8602C>T (p.His2868Tyr)
c.3388C>T (p.His1130Tyr)
c.9238C>T (p.His3080Tyr)
c.9118C>T (p.His3040Tyr)
c.9049C>T (p.His3017Tyr)
c.7453C>T (p.His2485Tyr)
n.9589C>T
6g.51748303G>CCA364422259PKHD1c.9313C>G (p.His3105Asp)
c.9184C>G (p.His3062Asp)
c.9175C>G (p.His3059Asp)
c.8671C>G (p.His2891Asp)
c.8602C>G (p.His2868Asp)
c.3388C>G (p.His1130Asp)
c.9238C>G (p.His3080Asp)
c.9118C>G (p.His3040Asp)
c.9049C>G (p.His3017Asp)
c.7453C>G (p.His2485Asp)
n.9589C>G
6g.51748303G>TCA364422260PKHD1c.9313C>A (p.His3105Asn)
c.9184C>A (p.His3062Asn)
c.9175C>A (p.His3059Asn)
c.8671C>A (p.His2891Asn)
c.8602C>A (p.His2868Asn)
c.3388C>A (p.His1130Asn)
c.9238C>A (p.His3080Asn)
c.9118C>A (p.His3040Asn)
c.9049C>A (p.His3017Asn)
c.7453C>A (p.His2485Asn)
n.9589C>A
6g.51748304A>CCA364422262PKHD1c.9312T>G (p.Phe3104Leu)
c.9183T>G (p.Phe3061Leu)
c.9174T>G (p.Phe3058Leu)
c.8670T>G (p.Phe2890Leu)
c.8601T>G (p.Phe2867Leu)
c.3387T>G (p.Phe1129Leu)
c.9237T>G (p.Phe3079Leu)
c.9117T>G (p.Phe3039Leu)
c.9048T>G (p.Phe3016Leu)
c.7452T>G (p.Phe2484Leu)
n.9588T>G
6g.51748304A>GCA450613493PKHD1c.9312T>C (p.Phe3104=)
c.9183T>C (p.Phe3061=)
c.9174T>C (p.Phe3058=)
c.8670T>C (p.Phe2890=)
c.8601T>C (p.Phe2867=)
c.3387T>C (p.Phe1129=)
c.9237T>C (p.Phe3079=)
c.9117T>C (p.Phe3039=)
c.9048T>C (p.Phe3016=)
c.7452T>C (p.Phe2484=)
n.9588T>C
6g.51748304A>TCA364422261PKHD1c.9312T>A (p.Phe3104Leu)
c.9183T>A (p.Phe3061Leu)
c.9174T>A (p.Phe3058Leu)
c.8670T>A (p.Phe2890Leu)
c.8601T>A (p.Phe2867Leu)
c.3387T>A (p.Phe1129Leu)
c.9237T>A (p.Phe3079Leu)
c.9117T>A (p.Phe3039Leu)
c.9048T>A (p.Phe3016Leu)
c.7452T>A (p.Phe2484Leu)
n.9588T>A
6g.51748305A>CCA364422263PKHD1c.9311T>G (p.Phe3104Cys)
c.9182T>G (p.Phe3061Cys)
c.9173T>G (p.Phe3058Cys)
c.8669T>G (p.Phe2890Cys)
c.8600T>G (p.Phe2867Cys)
c.3386T>G (p.Phe1129Cys)
c.9236T>G (p.Phe3079Cys)
c.9116T>G (p.Phe3039Cys)
c.9047T>G (p.Phe3016Cys)
c.7451T>G (p.Phe2484Cys)
n.9587T>G
6g.51748305A>GCA364422264PKHD1c.9311T>C (p.Phe3104Ser)
c.9182T>C (p.Phe3061Ser)
c.9173T>C (p.Phe3058Ser)
c.8669T>C (p.Phe2890Ser)
c.8600T>C (p.Phe2867Ser)
c.3386T>C (p.Phe1129Ser)
c.9236T>C (p.Phe3079Ser)
c.9116T>C (p.Phe3039Ser)
c.9047T>C (p.Phe3016Ser)
c.7451T>C (p.Phe2484Ser)
n.9587T>C
6g.51748305A>TCA364422265PKHD1c.9311T>A (p.Phe3104Tyr)
c.9182T>A (p.Phe3061Tyr)
c.9173T>A (p.Phe3058Tyr)
c.8669T>A (p.Phe2890Tyr)
c.8600T>A (p.Phe2867Tyr)
c.3386T>A (p.Phe1129Tyr)
c.9236T>A (p.Phe3079Tyr)
c.9116T>A (p.Phe3039Tyr)
c.9047T>A (p.Phe3016Tyr)
c.7451T>A (p.Phe2484Tyr)
n.9587T>A
6g.51748306A=CA1628503044PKHD1c.9310T= (p.Phe3104=)
c.9181T= (p.Phe3061=)
c.9172T= (p.Phe3058=)
c.8668T= (p.Phe2890=)
c.8599T= (p.Phe2867=)
c.3385T= (p.Phe1129=)
c.9235T= (p.Phe3079=)
c.9115T= (p.Phe3039=)
c.9046T= (p.Phe3016=)
c.7450T= (p.Phe2484=)
n.9586T=
6g.51748306A>CCA364422266PKHD1c.9310T>G (p.Phe3104Val)
c.9181T>G (p.Phe3061Val)
c.9172T>G (p.Phe3058Val)
c.8668T>G (p.Phe2890Val)
c.8599T>G (p.Phe2867Val)
c.3385T>G (p.Phe1129Val)
c.9235T>G (p.Phe3079Val)
c.9115T>G (p.Phe3039Val)
c.9046T>G (p.Phe3016Val)
c.7450T>G (p.Phe2484Val)
n.9586T>G
6g.51748306A>GCA3851410PKHD1c.9310T>C (p.Phe3104Leu)
c.9181T>C (p.Phe3061Leu)
c.9172T>C (p.Phe3058Leu)
c.8668T>C (p.Phe2890Leu)
c.8599T>C (p.Phe2867Leu)
c.3385T>C (p.Phe1129Leu)
c.9235T>C (p.Phe3079Leu)
c.9115T>C (p.Phe3039Leu)
c.9046T>C (p.Phe3016Leu)
c.7450T>C (p.Phe2484Leu)
n.9586T>C
 dbSNP ExAC gnomAD v4
6g.51748306A>TCA364422267PKHD1c.9310T>A (p.Phe3104Ile)
c.9181T>A (p.Phe3061Ile)
c.9172T>A (p.Phe3058Ile)
c.8668T>A (p.Phe2890Ile)
c.8599T>A (p.Phe2867Ile)
c.3385T>A (p.Phe1129Ile)
c.9235T>A (p.Phe3079Ile)
c.9115T>A (p.Phe3039Ile)
c.9046T>A (p.Phe3016Ile)
c.7450T>A (p.Phe2484Ile)
n.9586T>A
6g.51748307G>ACA450613498PKHD1c.9309C>T (p.Gly3103=)
c.9180C>T (p.Gly3060=)
c.9171C>T (p.Gly3057=)
c.8667C>T (p.Gly2889=)
c.8598C>T (p.Gly2866=)
c.3384C>T (p.Gly1128=)
c.9234C>T (p.Gly3078=)
c.9114C>T (p.Gly3038=)
c.9045C>T (p.Gly3015=)
c.7449C>T (p.Gly2483=)
n.9585C>T
 gnomAD v4
6g.51748307G>CCA450613499PKHD1c.9309C>G (p.Gly3103=)
c.9180C>G (p.Gly3060=)
c.9171C>G (p.Gly3057=)
c.8667C>G (p.Gly2889=)
c.8598C>G (p.Gly2866=)
c.3384C>G (p.Gly1128=)
c.9234C>G (p.Gly3078=)
c.9114C>G (p.Gly3038=)
c.9045C>G (p.Gly3015=)
c.7449C>G (p.Gly2483=)
n.9585C>G
6g.51748307G>TCA450613500PKHD1c.9309C>A (p.Gly3103=)
c.9180C>A (p.Gly3060=)
c.9171C>A (p.Gly3057=)
c.8667C>A (p.Gly2889=)
c.8598C>A (p.Gly2866=)
c.3384C>A (p.Gly1128=)
c.9234C>A (p.Gly3078=)
c.9114C>A (p.Gly3038=)
c.9045C>A (p.Gly3015=)
c.7449C>A (p.Gly2483=)
n.9585C>A
6g.51748308C>ACA364422270PKHD1c.9308G>T (p.Gly3103Val)
c.9179G>T (p.Gly3060Val)
c.9170G>T (p.Gly3057Val)
c.8666G>T (p.Gly2889Val)
c.8597G>T (p.Gly2866Val)
c.3383G>T (p.Gly1128Val)
c.9233G>T (p.Gly3078Val)
c.9113G>T (p.Gly3038Val)
c.9044G>T (p.Gly3015Val)
c.7448G>T (p.Gly2483Val)
n.9584G>T
6g.51748308C=CA1628503050PKHD1c.9308G= (p.Gly3103=)
c.9179G= (p.Gly3060=)
c.9170G= (p.Gly3057=)
c.8666G= (p.Gly2889=)
c.8597G= (p.Gly2866=)
c.3383G= (p.Gly1128=)
c.9233G= (p.Gly3078=)
c.9113G= (p.Gly3038=)
c.9044G= (p.Gly3015=)
c.7448G= (p.Gly2483=)
n.9584G=
6g.51748308C>GCA364422272PKHD1c.9308G>C (p.Gly3103Ala)
c.9179G>C (p.Gly3060Ala)
c.9170G>C (p.Gly3057Ala)
c.8666G>C (p.Gly2889Ala)
c.8597G>C (p.Gly2866Ala)
c.3383G>C (p.Gly1128Ala)
c.9233G>C (p.Gly3078Ala)
c.9113G>C (p.Gly3038Ala)
c.9044G>C (p.Gly3015Ala)
c.7448G>C (p.Gly2483Ala)
n.9584G>C
6g.51748308C>TCA3851411PKHD1c.9308G>A (p.Gly3103Asp)
c.9179G>A (p.Gly3060Asp)
c.9170G>A (p.Gly3057Asp)
c.8666G>A (p.Gly2889Asp)
c.8597G>A (p.Gly2866Asp)
c.3383G>A (p.Gly1128Asp)
c.9233G>A (p.Gly3078Asp)
c.9113G>A (p.Gly3038Asp)
c.9044G>A (p.Gly3015Asp)
c.7448G>A (p.Gly2483Asp)
n.9584G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748309delCA2679078635PKHD1c.9308del (p.Gly3103AlafsTer?)
c.9179del (p.Gly3060AlafsTer?)
c.9170del (p.Gly3057AlafsTer?)
c.8666del (p.Gly2889AlafsTer?)
c.8597del (p.Gly2866AlafsTer?)
c.3383del (p.Gly1128AlafsTer?)
c.9233del (p.Gly3078AlafsTer?)
c.9113del (p.Gly3038AlafsTer?)
c.9044del (p.Gly3015AlafsTer?)
c.7448del (p.Gly2483AlafsTer?)
n.9584del
 gnomAD v4
6g.51748309C>ACA364422275PKHD1c.9307G>T (p.Gly3103Cys)
c.9178G>T (p.Gly3060Cys)
c.9169G>T (p.Gly3057Cys)
c.8665G>T (p.Gly2889Cys)
c.8596G>T (p.Gly2866Cys)
c.3382G>T (p.Gly1128Cys)
c.9232G>T (p.Gly3078Cys)
c.9112G>T (p.Gly3038Cys)
c.9043G>T (p.Gly3015Cys)
c.7447G>T (p.Gly2483Cys)
n.9583G>T
6g.51748309C=CA1628503052PKHD1c.9307G= (p.Gly3103=)
c.9178G= (p.Gly3060=)
c.9169G= (p.Gly3057=)
c.8665G= (p.Gly2889=)
c.8596G= (p.Gly2866=)
c.3382G= (p.Gly1128=)
c.9232G= (p.Gly3078=)
c.9112G= (p.Gly3038=)
c.9043G= (p.Gly3015=)
c.7447G= (p.Gly2483=)
n.9583G=
6g.51748309C>GCA3851412PKHD1c.9307G>C (p.Gly3103Arg)
c.9178G>C (p.Gly3060Arg)
c.9169G>C (p.Gly3057Arg)
c.8665G>C (p.Gly2889Arg)
c.8596G>C (p.Gly2866Arg)
c.3382G>C (p.Gly1128Arg)
c.9232G>C (p.Gly3078Arg)
c.9112G>C (p.Gly3038Arg)
c.9043G>C (p.Gly3015Arg)
c.7447G>C (p.Gly2483Arg)
n.9583G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748309C>TCA364422279PKHD1c.9307G>A (p.Gly3103Ser)
c.9178G>A (p.Gly3060Ser)
c.9169G>A (p.Gly3057Ser)
c.8665G>A (p.Gly2889Ser)
c.8596G>A (p.Gly2866Ser)
c.3382G>A (p.Gly1128Ser)
c.9232G>A (p.Gly3078Ser)
c.9112G>A (p.Gly3038Ser)
c.9043G>A (p.Gly3015Ser)
c.7447G>A (p.Gly2483Ser)
n.9583G>A
6g.51748310A>CCA450613504PKHD1c.9306T>G (p.Leu3102=)
c.9177T>G (p.Leu3059=)
c.9168T>G (p.Leu3056=)
c.8664T>G (p.Leu2888=)
c.8595T>G (p.Leu2865=)
c.3381T>G (p.Leu1127=)
c.9231T>G (p.Leu3077=)
c.9111T>G (p.Leu3037=)
c.9042T>G (p.Leu3014=)
c.7446T>G (p.Leu2482=)
n.9582T>G
6g.51748310A>GCA450613505PKHD1c.9306T>C (p.Leu3102=)
c.9177T>C (p.Leu3059=)
c.9168T>C (p.Leu3056=)
c.8664T>C (p.Leu2888=)
c.8595T>C (p.Leu2865=)
c.3381T>C (p.Leu1127=)
c.9231T>C (p.Leu3077=)
c.9111T>C (p.Leu3037=)
c.9042T>C (p.Leu3014=)
c.7446T>C (p.Leu2482=)
n.9582T>C
6g.51748310A>TCA450613506PKHD1c.9306T>A (p.Leu3102=)
c.9177T>A (p.Leu3059=)
c.9168T>A (p.Leu3056=)
c.8664T>A (p.Leu2888=)
c.8595T>A (p.Leu2865=)
c.3381T>A (p.Leu1127=)
c.9231T>A (p.Leu3077=)
c.9111T>A (p.Leu3037=)
c.9042T>A (p.Leu3014=)
c.7446T>A (p.Leu2482=)
n.9582T>A
6g.51748311A=CA1628503058PKHD1c.9305T= (p.Leu3102=)
c.9176T= (p.Leu3059=)
c.9167T= (p.Leu3056=)
c.8663T= (p.Leu2888=)
c.8594T= (p.Leu2865=)
c.3380T= (p.Leu1127=)
c.9230T= (p.Leu3077=)
c.9110T= (p.Leu3037=)
c.9041T= (p.Leu3014=)
c.7445T= (p.Leu2482=)
n.9581T=
6g.51748311A>CCA364422284PKHD1c.9305T>G (p.Leu3102Arg)
c.9176T>G (p.Leu3059Arg)
c.9167T>G (p.Leu3056Arg)
c.8663T>G (p.Leu2888Arg)
c.8594T>G (p.Leu2865Arg)
c.3380T>G (p.Leu1127Arg)
c.9230T>G (p.Leu3077Arg)
c.9110T>G (p.Leu3037Arg)
c.9041T>G (p.Leu3014Arg)
c.7445T>G (p.Leu2482Arg)
n.9581T>G
6g.51748311A>GCA364422287PKHD1c.9305T>C (p.Leu3102Pro)
c.9176T>C (p.Leu3059Pro)
c.9167T>C (p.Leu3056Pro)
c.8663T>C (p.Leu2888Pro)
c.8594T>C (p.Leu2865Pro)
c.3380T>C (p.Leu1127Pro)
c.9230T>C (p.Leu3077Pro)
c.9110T>C (p.Leu3037Pro)
c.9041T>C (p.Leu3014Pro)
c.7445T>C (p.Leu2482Pro)
n.9581T>C
 dbSNP gnomAD v2 gnomAD v4
6g.51748311A>TCA364422281PKHD1c.9305T>A (p.Leu3102His)
c.9176T>A (p.Leu3059His)
c.9167T>A (p.Leu3056His)
c.8663T>A (p.Leu2888His)
c.8594T>A (p.Leu2865His)
c.3380T>A (p.Leu1127His)
c.9230T>A (p.Leu3077His)
c.9110T>A (p.Leu3037His)
c.9041T>A (p.Leu3014His)
c.7445T>A (p.Leu2482His)
n.9581T>A
6g.51748312G>ACA138896421PKHD1c.9304C>T (p.Leu3102Phe)
c.9175C>T (p.Leu3059Phe)
c.9166C>T (p.Leu3056Phe)
c.8662C>T (p.Leu2888Phe)
c.8593C>T (p.Leu2865Phe)
c.3379C>T (p.Leu1127Phe)
c.9229C>T (p.Leu3077Phe)
c.9109C>T (p.Leu3037Phe)
c.9040C>T (p.Leu3014Phe)
c.7444C>T (p.Leu2482Phe)
n.9580C>T
 dbSNP gnomAD v3 gnomAD v4
6g.51748312G>CCA364422290PKHD1c.9304C>G (p.Leu3102Val)
c.9175C>G (p.Leu3059Val)
c.9166C>G (p.Leu3056Val)
c.8662C>G (p.Leu2888Val)
c.8593C>G (p.Leu2865Val)
c.3379C>G (p.Leu1127Val)
c.9229C>G (p.Leu3077Val)
c.9109C>G (p.Leu3037Val)
c.9040C>G (p.Leu3014Val)
c.7444C>G (p.Leu2482Val)
n.9580C>G
6g.51748312G=CA1628503060PKHD1c.9304C= (p.Leu3102=)
c.9175C= (p.Leu3059=)
c.9166C= (p.Leu3056=)
c.8662C= (p.Leu2888=)
c.8593C= (p.Leu2865=)
c.3379C= (p.Leu1127=)
c.9229C= (p.Leu3077=)
c.9109C= (p.Leu3037=)
c.9040C= (p.Leu3014=)
c.7444C= (p.Leu2482=)
n.9580C=
6g.51748312G>TCA364422292PKHD1c.9304C>A (p.Leu3102Ile)
c.9175C>A (p.Leu3059Ile)
c.9166C>A (p.Leu3056Ile)
c.8662C>A (p.Leu2888Ile)
c.8593C>A (p.Leu2865Ile)
c.3379C>A (p.Leu1127Ile)
c.9229C>A (p.Leu3077Ile)
c.9109C>A (p.Leu3037Ile)
c.9040C>A (p.Leu3014Ile)
c.7444C>A (p.Leu2482Ile)
n.9580C>A
6g.51748313T>ACA364422296PKHD1c.9303A>T (p.Arg3101Ser)
c.9174A>T (p.Arg3058Ser)
c.9165A>T (p.Arg3055Ser)
c.8661A>T (p.Arg2887Ser)
c.8592A>T (p.Arg2864Ser)
c.3378A>T (p.Arg1126Ser)
c.9228A>T (p.Arg3076Ser)
c.9108A>T (p.Arg3036Ser)
c.9039A>T (p.Arg3013Ser)
c.7443A>T (p.Arg2481Ser)
n.9579A>T
6g.51748313T>CCA450613510PKHD1c.9303A>G (p.Arg3101=)
c.9174A>G (p.Arg3058=)
c.9165A>G (p.Arg3055=)
c.8661A>G (p.Arg2887=)
c.8592A>G (p.Arg2864=)
c.3378A>G (p.Arg1126=)
c.9228A>G (p.Arg3076=)
c.9108A>G (p.Arg3036=)
c.9039A>G (p.Arg3013=)
c.7443A>G (p.Arg2481=)
n.9579A>G
 ClinVar dbSNP gnomAD v4
6g.51748313T>GCA364422298PKHD1c.9303A>C (p.Arg3101Ser)
c.9174A>C (p.Arg3058Ser)
c.9165A>C (p.Arg3055Ser)
c.8661A>C (p.Arg2887Ser)
c.8592A>C (p.Arg2864Ser)
c.3378A>C (p.Arg1126Ser)
c.9228A>C (p.Arg3076Ser)
c.9108A>C (p.Arg3036Ser)
c.9039A>C (p.Arg3013Ser)
c.7443A>C (p.Arg2481Ser)
n.9579A>C
6g.51748313T=CA1628503068PKHD1c.9303A= (p.Arg3101=)
c.9174A= (p.Arg3058=)
c.9165A= (p.Arg3055=)
c.8661A= (p.Arg2887=)
c.8592A= (p.Arg2864=)
c.3378A= (p.Arg1126=)
c.9228A= (p.Arg3076=)
c.9108A= (p.Arg3036=)
c.9039A= (p.Arg3013=)
c.7443A= (p.Arg2481=)
n.9579A=
6g.51748318_51748319delCA2580617249PKHD1c.9302_9303del (p.Arg3101ThrfsTer14)
c.9173_9174del (p.Arg3058ThrfsTer14)
c.9164_9165del (p.Arg3055ThrfsTer14)
c.8660_8661del (p.Arg2887ThrfsTer14)
c.8591_8592del (p.Arg2864ThrfsTer14)
c.3377_3378del (p.Arg1126ThrfsTer14)
c.9227_9228del (p.Arg3076ThrfsTer14)
c.9107_9108del (p.Arg3036ThrfsTer14)
c.9038_9039del (p.Arg3013ThrfsTer14)
c.7442_7443del (p.Arg2481ThrfsTer14)
n.9578_9579del
 ClinVar
6g.51748314C>ACA364422301PKHD1c.9302G>T (p.Arg3101Ile)
c.9173G>T (p.Arg3058Ile)
c.9164G>T (p.Arg3055Ile)
c.8660G>T (p.Arg2887Ile)
c.8591G>T (p.Arg2864Ile)
c.3377G>T (p.Arg1126Ile)
c.9227G>T (p.Arg3076Ile)
c.9107G>T (p.Arg3036Ile)
c.9038G>T (p.Arg3013Ile)
c.7442G>T (p.Arg2481Ile)
n.9578G>T
6g.51748314C>GCA364422303PKHD1c.9302G>C (p.Arg3101Thr)
c.9173G>C (p.Arg3058Thr)
c.9164G>C (p.Arg3055Thr)
c.8660G>C (p.Arg2887Thr)
c.8591G>C (p.Arg2864Thr)
c.3377G>C (p.Arg1126Thr)
c.9227G>C (p.Arg3076Thr)
c.9107G>C (p.Arg3036Thr)
c.9038G>C (p.Arg3013Thr)
c.7442G>C (p.Arg2481Thr)
n.9578G>C
6g.51748314C>TCA364422305PKHD1c.9302G>A (p.Arg3101Lys)
c.9173G>A (p.Arg3058Lys)
c.9164G>A (p.Arg3055Lys)
c.8660G>A (p.Arg2887Lys)
c.8591G>A (p.Arg2864Lys)
c.3377G>A (p.Arg1126Lys)
c.9227G>A (p.Arg3076Lys)
c.9107G>A (p.Arg3036Lys)
c.9038G>A (p.Arg3013Lys)
c.7442G>A (p.Arg2481Lys)
n.9578G>A
6g.51748315T>ACA364422308PKHD1c.9301A>T (p.Arg3101Ter)
c.9172A>T (p.Arg3058Ter)
c.9163A>T (p.Arg3055Ter)
c.8659A>T (p.Arg2887Ter)
c.8590A>T (p.Arg2864Ter)
c.3376A>T (p.Arg1126Ter)
c.9226A>T (p.Arg3076Ter)
c.9106A>T (p.Arg3036Ter)
c.9037A>T (p.Arg3013Ter)
c.7441A>T (p.Arg2481Ter)
n.9577A>T
6g.51748315T>CCA3851413PKHD1c.9301A>G (p.Arg3101Gly)
c.9172A>G (p.Arg3058Gly)
c.9163A>G (p.Arg3055Gly)
c.8659A>G (p.Arg2887Gly)
c.8590A>G (p.Arg2864Gly)
c.3376A>G (p.Arg1126Gly)
c.9226A>G (p.Arg3076Gly)
c.9106A>G (p.Arg3036Gly)
c.9037A>G (p.Arg3013Gly)
c.7441A>G (p.Arg2481Gly)
n.9577A>G
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.51748315T>GCA450613513PKHD1c.9301A>C (p.Arg3101=)
c.9172A>C (p.Arg3058=)
c.9163A>C (p.Arg3055=)
c.8659A>C (p.Arg2887=)
c.8590A>C (p.Arg2864=)
c.3376A>C (p.Arg1126=)
c.9226A>C (p.Arg3076=)
c.9106A>C (p.Arg3036=)
c.9037A>C (p.Arg3013=)
c.7441A>C (p.Arg2481=)
n.9577A>C
6g.51748315T=CA1628503075PKHD1c.9301A= (p.Arg3101=)
c.9172A= (p.Arg3058=)
c.9163A= (p.Arg3055=)
c.8659A= (p.Arg2887=)
c.8590A= (p.Arg2864=)
c.3376A= (p.Arg1126=)
c.9226A= (p.Arg3076=)
c.9106A= (p.Arg3036=)
c.9037A= (p.Arg3013=)
c.7441A= (p.Arg2481=)
n.9577A=
6g.51748316C>ACA364422313PKHD1c.9300G>T (p.Glu3100Asp)
c.9171G>T (p.Glu3057Asp)
c.9162G>T (p.Glu3054Asp)
c.8658G>T (p.Glu2886Asp)
c.8589G>T (p.Glu2863Asp)
c.3375G>T (p.Glu1125Asp)
c.9225G>T (p.Glu3075Asp)
c.9105G>T (p.Glu3035Asp)
c.9036G>T (p.Glu3012Asp)
c.7440G>T (p.Glu2480Asp)
n.9576G>T
6g.51748316C=CA1628503079PKHD1c.9300G= (p.Glu3100=)
c.9171G= (p.Glu3057=)
c.9162G= (p.Glu3054=)
c.8658G= (p.Glu2886=)
c.8589G= (p.Glu2863=)
c.3375G= (p.Glu1125=)
c.9225G= (p.Glu3075=)
c.9105G= (p.Glu3035=)
c.9036G= (p.Glu3012=)
c.7440G= (p.Glu2480=)
n.9576G=
6g.51748316C>GCA364422315PKHD1c.9300G>C (p.Glu3100Asp)
c.9171G>C (p.Glu3057Asp)
c.9162G>C (p.Glu3054Asp)
c.8658G>C (p.Glu2886Asp)
c.8589G>C (p.Glu2863Asp)
c.3375G>C (p.Glu1125Asp)
c.9225G>C (p.Glu3075Asp)
c.9105G>C (p.Glu3035Asp)
c.9036G>C (p.Glu3012Asp)
c.7440G>C (p.Glu2480Asp)
n.9576G>C
6g.51748316C>TCA450613515PKHD1c.9300G>A (p.Glu3100=)
c.9171G>A (p.Glu3057=)
c.9162G>A (p.Glu3054=)
c.8658G>A (p.Glu2886=)
c.8589G>A (p.Glu2863=)
c.3375G>A (p.Glu1125=)
c.9225G>A (p.Glu3075=)
c.9105G>A (p.Glu3035=)
c.9036G>A (p.Glu3012=)
c.7440G>A (p.Glu2480=)
n.9576G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51748317T>ACA364422321PKHD1c.9299A>T (p.Glu3100Val)
c.9170A>T (p.Glu3057Val)
c.9161A>T (p.Glu3054Val)
c.8657A>T (p.Glu2886Val)
c.8588A>T (p.Glu2863Val)
c.3374A>T (p.Glu1125Val)
c.9224A>T (p.Glu3075Val)
c.9104A>T (p.Glu3035Val)
c.9035A>T (p.Glu3012Val)
c.7439A>T (p.Glu2480Val)
n.9575A>T
6g.51748317T>CCA246496PKHD1c.9299A>G (p.Glu3100Gly)
c.9170A>G (p.Glu3057Gly)
c.9161A>G (p.Glu3054Gly)
c.8657A>G (p.Glu2886Gly)
c.8588A>G (p.Glu2863Gly)
c.3374A>G (p.Glu1125Gly)
c.9224A>G (p.Glu3075Gly)
c.9104A>G (p.Glu3035Gly)
c.9035A>G (p.Glu3012Gly)
c.7439A>G (p.Glu2480Gly)
n.9575A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748317T>GCA364422318PKHD1c.9299A>C (p.Glu3100Ala)
c.9170A>C (p.Glu3057Ala)
c.9161A>C (p.Glu3054Ala)
c.8657A>C (p.Glu2886Ala)
c.8588A>C (p.Glu2863Ala)
c.3374A>C (p.Glu1125Ala)
c.9224A>C (p.Glu3075Ala)
c.9104A>C (p.Glu3035Ala)
c.9035A>C (p.Glu3012Ala)
c.7439A>C (p.Glu2480Ala)
n.9575A>C
6g.51748317T=CA1628503085PKHD1c.9299A= (p.Glu3100=)
c.9170A= (p.Glu3057=)
c.9161A= (p.Glu3054=)
c.8657A= (p.Glu2886=)
c.8588A= (p.Glu2863=)
c.3374A= (p.Glu1125=)
c.9224A= (p.Glu3075=)
c.9104A= (p.Glu3035=)
c.9035A= (p.Glu3012=)
c.7439A= (p.Glu2480=)
n.9575A=
6g.51748318C>ACA364422334PKHD1c.9298G>T (p.Glu3100Ter)
c.9169G>T (p.Glu3057Ter)
c.9160G>T (p.Glu3054Ter)
c.8656G>T (p.Glu2886Ter)
c.8587G>T (p.Glu2863Ter)
c.3373G>T (p.Glu1125Ter)
c.9223G>T (p.Glu3075Ter)
c.9103G>T (p.Glu3035Ter)
c.9034G>T (p.Glu3012Ter)
c.7438G>T (p.Glu2480Ter)
n.9574G>T
6g.51748318C>GCA364422336PKHD1c.9298G>C (p.Glu3100Gln)
c.9169G>C (p.Glu3057Gln)
c.9160G>C (p.Glu3054Gln)
c.8656G>C (p.Glu2886Gln)
c.8587G>C (p.Glu2863Gln)
c.3373G>C (p.Glu1125Gln)
c.9223G>C (p.Glu3075Gln)
c.9103G>C (p.Glu3035Gln)
c.9034G>C (p.Glu3012Gln)
c.7438G>C (p.Glu2480Gln)
n.9574G>C
6g.51748318C>TCA364422338PKHD1c.9298G>A (p.Glu3100Lys)
c.9169G>A (p.Glu3057Lys)
c.9160G>A (p.Glu3054Lys)
c.8656G>A (p.Glu2886Lys)
c.8587G>A (p.Glu2863Lys)
c.3373G>A (p.Glu1125Lys)
c.9223G>A (p.Glu3075Lys)
c.9103G>A (p.Glu3035Lys)
c.9034G>A (p.Glu3012Lys)
c.7438G>A (p.Glu2480Lys)
n.9574G>A
6g.51748319T>ACA450613518PKHD1c.9297A>T (p.Ser3099=)
c.9168A>T (p.Ser3056=)
c.9159A>T (p.Ser3053=)
c.8655A>T (p.Ser2885=)
c.8586A>T (p.Ser2862=)
c.3372A>T (p.Ser1124=)
c.9222A>T (p.Ser3074=)
c.9102A>T (p.Ser3034=)
c.9033A>T (p.Ser3011=)
c.7437A>T (p.Ser2479=)
n.9573A>T
6g.51748319T>CCA450613519PKHD1c.9297A>G (p.Ser3099=)
c.9168A>G (p.Ser3056=)
c.9159A>G (p.Ser3053=)
c.8655A>G (p.Ser2885=)
c.8586A>G (p.Ser2862=)
c.3372A>G (p.Ser1124=)
c.9222A>G (p.Ser3074=)
c.9102A>G (p.Ser3034=)
c.9033A>G (p.Ser3011=)
c.7437A>G (p.Ser2479=)
n.9573A>G
6g.51748319T>GCA450613520PKHD1c.9297A>C (p.Ser3099=)
c.9168A>C (p.Ser3056=)
c.9159A>C (p.Ser3053=)
c.8655A>C (p.Ser2885=)
c.8586A>C (p.Ser2862=)
c.3372A>C (p.Ser1124=)
c.9222A>C (p.Ser3074=)
c.9102A>C (p.Ser3034=)
c.9033A>C (p.Ser3011=)
c.7437A>C (p.Ser2479=)
n.9573A>C
6g.51748320G>ACA364422341PKHD1c.9296C>T (p.Ser3099Leu)
c.9167C>T (p.Ser3056Leu)
c.9158C>T (p.Ser3053Leu)
c.8654C>T (p.Ser2885Leu)
c.8585C>T (p.Ser2862Leu)
c.3371C>T (p.Ser1124Leu)
c.9221C>T (p.Ser3074Leu)
c.9101C>T (p.Ser3034Leu)
c.9032C>T (p.Ser3011Leu)
c.7436C>T (p.Ser2479Leu)
n.9572C>T
 gnomAD v4
6g.51748320G>CCA364422343PKHD1c.9296C>G (p.Ser3099Ter)
c.9167C>G (p.Ser3056Ter)
c.9158C>G (p.Ser3053Ter)
c.8654C>G (p.Ser2885Ter)
c.8585C>G (p.Ser2862Ter)
c.3371C>G (p.Ser1124Ter)
c.9221C>G (p.Ser3074Ter)
c.9101C>G (p.Ser3034Ter)
c.9032C>G (p.Ser3011Ter)
c.7436C>G (p.Ser2479Ter)
n.9572C>G
6g.51748320G=CA1628503091PKHD1c.9296C= (p.Ser3099=)
c.9167C= (p.Ser3056=)
c.9158C= (p.Ser3053=)
c.8654C= (p.Ser2885=)
c.8585C= (p.Ser2862=)
c.3371C= (p.Ser1124=)
c.9221C= (p.Ser3074=)
c.9101C= (p.Ser3034=)
c.9032C= (p.Ser3011=)
c.7436C= (p.Ser2479=)
n.9572C=
6g.51748320G>TCA3851414PKHD1c.9296C>A (p.Ser3099Ter)
c.9167C>A (p.Ser3056Ter)
c.9158C>A (p.Ser3053Ter)
c.8654C>A (p.Ser2885Ter)
c.8585C>A (p.Ser2862Ter)
c.3371C>A (p.Ser1124Ter)
c.9221C>A (p.Ser3074Ter)
c.9101C>A (p.Ser3034Ter)
c.9032C>A (p.Ser3011Ter)
c.7436C>A (p.Ser2479Ter)
n.9572C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748321A>CCA364422346PKHD1c.9295T>G (p.Ser3099Ala)
c.9166T>G (p.Ser3056Ala)
c.9157T>G (p.Ser3053Ala)
c.8653T>G (p.Ser2885Ala)
c.8584T>G (p.Ser2862Ala)
c.3370T>G (p.Ser1124Ala)
c.9220T>G (p.Ser3074Ala)
c.9100T>G (p.Ser3034Ala)
c.9031T>G (p.Ser3011Ala)
c.7435T>G (p.Ser2479Ala)
n.9571T>G
6g.51748321A>GCA364422351PKHD1c.9295T>C (p.Ser3099Pro)
c.9166T>C (p.Ser3056Pro)
c.9157T>C (p.Ser3053Pro)
c.8653T>C (p.Ser2885Pro)
c.8584T>C (p.Ser2862Pro)
c.3370T>C (p.Ser1124Pro)
c.9220T>C (p.Ser3074Pro)
c.9100T>C (p.Ser3034Pro)
c.9031T>C (p.Ser3011Pro)
c.7435T>C (p.Ser2479Pro)
n.9571T>C
 gnomAD v4
6g.51748321A>TCA364422348PKHD1c.9295T>A (p.Ser3099Thr)
c.9166T>A (p.Ser3056Thr)
c.9157T>A (p.Ser3053Thr)
c.8653T>A (p.Ser2885Thr)
c.8584T>A (p.Ser2862Thr)
c.3370T>A (p.Ser1124Thr)
c.9220T>A (p.Ser3074Thr)
c.9100T>A (p.Ser3034Thr)
c.9031T>A (p.Ser3011Thr)
c.7435T>A (p.Ser2479Thr)
n.9571T>A
6g.51748322T>ACA450613525PKHD1c.9294A>T (p.Gly3098=)
c.9165A>T (p.Gly3055=)
c.9156A>T (p.Gly3052=)
c.8652A>T (p.Gly2884=)
c.8583A>T (p.Gly2861=)
c.3369A>T (p.Gly1123=)
c.9219A>T (p.Gly3073=)
c.9099A>T (p.Gly3033=)
c.9030A>T (p.Gly3010=)
c.7434A>T (p.Gly2478=)
n.9570A>T
6g.51748322T>CCA3851415PKHD1c.9294A>G (p.Gly3098=)
c.9165A>G (p.Gly3055=)
c.9156A>G (p.Gly3052=)
c.8652A>G (p.Gly2884=)
c.8583A>G (p.Gly2861=)
c.3369A>G (p.Gly1123=)
c.9219A>G (p.Gly3073=)
c.9099A>G (p.Gly3033=)
c.9030A>G (p.Gly3010=)
c.7434A>G (p.Gly2478=)
n.9570A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748322T>GCA450613527PKHD1c.9294A>C (p.Gly3098=)
c.9165A>C (p.Gly3055=)
c.9156A>C (p.Gly3052=)
c.8652A>C (p.Gly2884=)
c.8583A>C (p.Gly2861=)
c.3369A>C (p.Gly1123=)
c.9219A>C (p.Gly3073=)
c.9099A>C (p.Gly3033=)
c.9030A>C (p.Gly3010=)
c.7434A>C (p.Gly2478=)
n.9570A>C
 ClinVar
6g.51748322T=CA1628503096PKHD1c.9294A= (p.Gly3098=)
c.9165A= (p.Gly3055=)
c.9156A= (p.Gly3052=)
c.8652A= (p.Gly2884=)
c.8583A= (p.Gly2861=)
c.3369A= (p.Gly1123=)
c.9219A= (p.Gly3073=)
c.9099A= (p.Gly3033=)
c.9030A= (p.Gly3010=)
c.7434A= (p.Gly2478=)
n.9570A=
6g.51748323C>ACA364422356PKHD1c.9293G>T (p.Gly3098Val)
c.9164G>T (p.Gly3055Val)
c.9155G>T (p.Gly3052Val)
c.8651G>T (p.Gly2884Val)
c.8582G>T (p.Gly2861Val)
c.3368G>T (p.Gly1123Val)
c.9218G>T (p.Gly3073Val)
c.9098G>T (p.Gly3033Val)
c.9029G>T (p.Gly3010Val)
c.7433G>T (p.Gly2478Val)
n.9569G>T
6g.51748323C=CA1628503111PKHD1c.9293G= (p.Gly3098=)
c.9164G= (p.Gly3055=)
c.9155G= (p.Gly3052=)
c.8651G= (p.Gly2884=)
c.8582G= (p.Gly2861=)
c.3368G= (p.Gly1123=)
c.9218G= (p.Gly3073=)
c.9098G= (p.Gly3033=)
c.9029G= (p.Gly3010=)
c.7433G= (p.Gly2478=)
n.9569G=
6g.51748323C>GCA364422358PKHD1c.9293G>C (p.Gly3098Ala)
c.9164G>C (p.Gly3055Ala)
c.9155G>C (p.Gly3052Ala)
c.8651G>C (p.Gly2884Ala)
c.8582G>C (p.Gly2861Ala)
c.3368G>C (p.Gly1123Ala)
c.9218G>C (p.Gly3073Ala)
c.9098G>C (p.Gly3033Ala)
c.9029G>C (p.Gly3010Ala)
c.7433G>C (p.Gly2478Ala)
n.9569G>C
6g.51748323C>TCA364422359PKHD1c.9293G>A (p.Gly3098Glu)
c.9164G>A (p.Gly3055Glu)
c.9155G>A (p.Gly3052Glu)
c.8651G>A (p.Gly2884Glu)
c.8582G>A (p.Gly2861Glu)
c.3368G>A (p.Gly1123Glu)
c.9218G>A (p.Gly3073Glu)
c.9098G>A (p.Gly3033Glu)
c.9029G>A (p.Gly3010Glu)
c.7433G>A (p.Gly2478Glu)
n.9569G>A
 dbSNP
6g.51748324dupCA138896450PKHD1c.9293dup (p.Ser3099IlefsTer17)
c.9164dup (p.Ser3056IlefsTer17)
c.9155dup (p.Ser3053IlefsTer17)
c.8651dup (p.Ser2885IlefsTer17)
c.8582dup (p.Ser2862IlefsTer17)
c.3368dup (p.Ser1124IlefsTer17)
c.9218dup (p.Ser3074IlefsTer17)
c.9098dup (p.Ser3034IlefsTer17)
c.9029dup (p.Ser3011IlefsTer17)
c.7433dup (p.Ser2479IlefsTer17)
n.9569dup
 dbSNP
6g.51748324C>ACA364422367PKHD1c.9292G>T (p.Gly3098Ter)
c.9163G>T (p.Gly3055Ter)
c.9154G>T (p.Gly3052Ter)
c.8650G>T (p.Gly2884Ter)
c.8581G>T (p.Gly2861Ter)
c.3367G>T (p.Gly1123Ter)
c.9217G>T (p.Gly3073Ter)
c.9097G>T (p.Gly3033Ter)
c.9028G>T (p.Gly3010Ter)
c.7432G>T (p.Gly2478Ter)
n.9568G>T
6g.51748324C>GCA364422365PKHD1c.9292G>C (p.Gly3098Arg)
c.9163G>C (p.Gly3055Arg)
c.9154G>C (p.Gly3052Arg)
c.8650G>C (p.Gly2884Arg)
c.8581G>C (p.Gly2861Arg)
c.3367G>C (p.Gly1123Arg)
c.9217G>C (p.Gly3073Arg)
c.9097G>C (p.Gly3033Arg)
c.9028G>C (p.Gly3010Arg)
c.7432G>C (p.Gly2478Arg)
n.9568G>C
6g.51748324C>TCA364422363PKHD1c.9292G>A (p.Gly3098Arg)
c.9163G>A (p.Gly3055Arg)
c.9154G>A (p.Gly3052Arg)
c.8650G>A (p.Gly2884Arg)
c.8581G>A (p.Gly2861Arg)
c.3367G>A (p.Gly1123Arg)
c.9217G>A (p.Gly3073Arg)
c.9097G>A (p.Gly3033Arg)
c.9028G>A (p.Gly3010Arg)
c.7432G>A (p.Gly2478Arg)
n.9568G>A
6g.51748325T>ACA450613529PKHD1c.9291A>T (p.Ala3097=)
c.9162A>T (p.Ala3054=)
c.9153A>T (p.Ala3051=)
c.8649A>T (p.Ala2883=)
c.8580A>T (p.Ala2860=)
c.3366A>T (p.Ala1122=)
c.9216A>T (p.Ala3072=)
c.9096A>T (p.Ala3032=)
c.9027A>T (p.Ala3009=)
c.7431A>T (p.Ala2477=)
n.9567A>T
6g.51748325T>CCA450613530PKHD1c.9291A>G (p.Ala3097=)
c.9162A>G (p.Ala3054=)
c.9153A>G (p.Ala3051=)
c.8649A>G (p.Ala2883=)
c.8580A>G (p.Ala2860=)
c.3366A>G (p.Ala1122=)
c.9216A>G (p.Ala3072=)
c.9096A>G (p.Ala3032=)
c.9027A>G (p.Ala3009=)
c.7431A>G (p.Ala2477=)
n.9567A>G
 ClinVar
6g.51748325T>GCA450613532PKHD1c.9291A>C (p.Ala3097=)
c.9162A>C (p.Ala3054=)
c.9153A>C (p.Ala3051=)
c.8649A>C (p.Ala2883=)
c.8580A>C (p.Ala2860=)
c.3366A>C (p.Ala1122=)
c.9216A>C (p.Ala3072=)
c.9096A>C (p.Ala3032=)
c.9027A>C (p.Ala3009=)
c.7431A>C (p.Ala2477=)
n.9567A>C
6g.51748326G>ACA364422371PKHD1c.9290C>T (p.Ala3097Val)
c.9161C>T (p.Ala3054Val)
c.9152C>T (p.Ala3051Val)
c.8648C>T (p.Ala2883Val)
c.8579C>T (p.Ala2860Val)
c.3365C>T (p.Ala1122Val)
c.9215C>T (p.Ala3072Val)
c.9095C>T (p.Ala3032Val)
c.9026C>T (p.Ala3009Val)
c.7430C>T (p.Ala2477Val)
n.9566C>T
6g.51748326G>CCA364422373PKHD1c.9290C>G (p.Ala3097Gly)
c.9161C>G (p.Ala3054Gly)
c.9152C>G (p.Ala3051Gly)
c.8648C>G (p.Ala2883Gly)
c.8579C>G (p.Ala2860Gly)
c.3365C>G (p.Ala1122Gly)
c.9215C>G (p.Ala3072Gly)
c.9095C>G (p.Ala3032Gly)
c.9026C>G (p.Ala3009Gly)
c.7430C>G (p.Ala2477Gly)
n.9566C>G
6g.51748326G=CA1628503114PKHD1c.9290C= (p.Ala3097=)
c.9161C= (p.Ala3054=)
c.9152C= (p.Ala3051=)
c.8648C= (p.Ala2883=)
c.8579C= (p.Ala2860=)
c.3365C= (p.Ala1122=)
c.9215C= (p.Ala3072=)
c.9095C= (p.Ala3032=)
c.9026C= (p.Ala3009=)
c.7430C= (p.Ala2477=)
n.9566C=
6g.51748326G>TCA364422378PKHD1c.9290C>A (p.Ala3097Glu)
c.9161C>A (p.Ala3054Glu)
c.9152C>A (p.Ala3051Glu)
c.8648C>A (p.Ala2883Glu)
c.8579C>A (p.Ala2860Glu)
c.3365C>A (p.Ala1122Glu)
c.9215C>A (p.Ala3072Glu)
c.9095C>A (p.Ala3032Glu)
c.9026C>A (p.Ala3009Glu)
c.7430C>A (p.Ala2477Glu)
n.9566C>A
 ClinVar dbSNP
6g.51748326_51748328delCA2573052704PKHD1c.9288_9290del (p.Ala3097del)
c.9159_9161del (p.Ala3054del)
c.9150_9152del (p.Ala3051del)
c.8646_8648del (p.Ala2883del)
c.8577_8579del (p.Ala2860del)
c.3363_3365del (p.Ala1122del)
c.9213_9215del (p.Ala3072del)
c.9093_9095del (p.Ala3032del)
c.9024_9026del (p.Ala3009del)
c.7428_7430del (p.Ala2477del)
n.9564_9566del
 ClinVar dbSNP
6g.51748327C>ACA364422382PKHD1c.9289G>T (p.Ala3097Ser)
c.9160G>T (p.Ala3054Ser)
c.9151G>T (p.Ala3051Ser)
c.8647G>T (p.Ala2883Ser)
c.8578G>T (p.Ala2860Ser)
c.3364G>T (p.Ala1122Ser)
c.9214G>T (p.Ala3072Ser)
c.9094G>T (p.Ala3032Ser)
c.9025G>T (p.Ala3009Ser)
c.7429G>T (p.Ala2477Ser)
n.9565G>T
6g.51748327C>GCA364422384PKHD1c.9289G>C (p.Ala3097Pro)
c.9160G>C (p.Ala3054Pro)
c.9151G>C (p.Ala3051Pro)
c.8647G>C (p.Ala2883Pro)
c.8578G>C (p.Ala2860Pro)
c.3364G>C (p.Ala1122Pro)
c.9214G>C (p.Ala3072Pro)
c.9094G>C (p.Ala3032Pro)
c.9025G>C (p.Ala3009Pro)
c.7429G>C (p.Ala2477Pro)
n.9565G>C
6g.51748327C>TCA364422386PKHD1c.9289G>A (p.Ala3097Thr)
c.9160G>A (p.Ala3054Thr)
c.9151G>A (p.Ala3051Thr)
c.8647G>A (p.Ala2883Thr)
c.8578G>A (p.Ala2860Thr)
c.3364G>A (p.Ala1122Thr)
c.9214G>A (p.Ala3072Thr)
c.9094G>A (p.Ala3032Thr)
c.9025G>A (p.Ala3009Thr)
c.7429G>A (p.Ala2477Thr)
n.9565G>A
 ClinVar
6g.51748328C>ACA450613536PKHD1c.9288G>T (p.Val3096=)
c.9159G>T (p.Val3053=)
c.9150G>T (p.Val3050=)
c.8646G>T (p.Val2882=)
c.8577G>T (p.Val2859=)
c.3363G>T (p.Val1121=)
c.9213G>T (p.Val3071=)
c.9093G>T (p.Val3031=)
c.9024G>T (p.Val3008=)
c.7428G>T (p.Val2476=)
n.9564G>T
6g.51748328C>GCA450613537PKHD1c.9288G>C (p.Val3096=)
c.9159G>C (p.Val3053=)
c.9150G>C (p.Val3050=)
c.8646G>C (p.Val2882=)
c.8577G>C (p.Val2859=)
c.3363G>C (p.Val1121=)
c.9213G>C (p.Val3071=)
c.9093G>C (p.Val3031=)
c.9024G>C (p.Val3008=)
c.7428G>C (p.Val2476=)
n.9564G>C
6g.51748328C>TCA450613538PKHD1c.9288G>A (p.Val3096=)
c.9159G>A (p.Val3053=)
c.9150G>A (p.Val3050=)
c.8646G>A (p.Val2882=)
c.8577G>A (p.Val2859=)
c.3363G>A (p.Val1121=)
c.9213G>A (p.Val3071=)
c.9093G>A (p.Val3031=)
c.9024G>A (p.Val3008=)
c.7428G>A (p.Val2476=)
n.9564G>A
6g.51748329A=CA1628503118PKHD1c.9287T= (p.Val3096=)
c.9158T= (p.Val3053=)
c.9149T= (p.Val3050=)
c.8645T= (p.Val2882=)
c.8576T= (p.Val2859=)
c.3362T= (p.Val1121=)
c.9212T= (p.Val3071=)
c.9092T= (p.Val3031=)
c.9023T= (p.Val3008=)
c.7427T= (p.Val2476=)
n.9563T=
6g.51748329A>CCA364422394PKHD1c.9287T>G (p.Val3096Gly)
c.9158T>G (p.Val3053Gly)
c.9149T>G (p.Val3050Gly)
c.8645T>G (p.Val2882Gly)
c.8576T>G (p.Val2859Gly)
c.3362T>G (p.Val1121Gly)
c.9212T>G (p.Val3071Gly)
c.9092T>G (p.Val3031Gly)
c.9023T>G (p.Val3008Gly)
c.7427T>G (p.Val2476Gly)
n.9563T>G
6g.51748329A>GCA364422392PKHD1c.9287T>C (p.Val3096Ala)
c.9158T>C (p.Val3053Ala)
c.9149T>C (p.Val3050Ala)
c.8645T>C (p.Val2882Ala)
c.8576T>C (p.Val2859Ala)
c.3362T>C (p.Val1121Ala)
c.9212T>C (p.Val3071Ala)
c.9092T>C (p.Val3031Ala)
c.9023T>C (p.Val3008Ala)
c.7427T>C (p.Val2476Ala)
n.9563T>C
 dbSNP gnomAD v4
6g.51748329A>TCA364422390PKHD1c.9287T>A (p.Val3096Glu)
c.9158T>A (p.Val3053Glu)
c.9149T>A (p.Val3050Glu)
c.8645T>A (p.Val2882Glu)
c.8576T>A (p.Val2859Glu)
c.3362T>A (p.Val1121Glu)
c.9212T>A (p.Val3071Glu)
c.9092T>A (p.Val3031Glu)
c.9023T>A (p.Val3008Glu)
c.7427T>A (p.Val2476Glu)
n.9563T>A
6g.51748330C>ACA364422395PKHD1c.9286G>T (p.Val3096Leu)
c.9157G>T (p.Val3053Leu)
c.9148G>T (p.Val3050Leu)
c.8644G>T (p.Val2882Leu)
c.8575G>T (p.Val2859Leu)
c.3361G>T (p.Val1121Leu)
c.9211G>T (p.Val3071Leu)
c.9091G>T (p.Val3031Leu)
c.9022G>T (p.Val3008Leu)
c.7426G>T (p.Val2476Leu)
n.9562G>T
6g.51748330C>GCA364422396PKHD1c.9286G>C (p.Val3096Leu)
c.9157G>C (p.Val3053Leu)
c.9148G>C (p.Val3050Leu)
c.8644G>C (p.Val2882Leu)
c.8575G>C (p.Val2859Leu)
c.3361G>C (p.Val1121Leu)
c.9211G>C (p.Val3071Leu)
c.9091G>C (p.Val3031Leu)
c.9022G>C (p.Val3008Leu)
c.7426G>C (p.Val2476Leu)
n.9562G>C
6g.51748330C>TCA364422398PKHD1c.9286G>A (p.Val3096Met)
c.9157G>A (p.Val3053Met)
c.9148G>A (p.Val3050Met)
c.8644G>A (p.Val2882Met)
c.8575G>A (p.Val2859Met)
c.3361G>A (p.Val1121Met)
c.9211G>A (p.Val3071Met)
c.9091G>A (p.Val3031Met)
c.9022G>A (p.Val3008Met)
c.7426G>A (p.Val2476Met)
n.9562G>A
6g.51748331A=CA1628503122PKHD1c.9285T= (p.Val3095=)
c.9156T= (p.Val3052=)
c.9147T= (p.Val3049=)
c.8643T= (p.Val2881=)
c.8574T= (p.Val2858=)
c.3360T= (p.Val1120=)
c.9210T= (p.Val3070=)
c.9090T= (p.Val3030=)
c.9021T= (p.Val3007=)
c.7425T= (p.Val2475=)
n.9561T=
6g.51748331A>CCA450613539PKHD1c.9285T>G (p.Val3095=)
c.9156T>G (p.Val3052=)
c.9147T>G (p.Val3049=)
c.8643T>G (p.Val2881=)
c.8574T>G (p.Val2858=)
c.3360T>G (p.Val1120=)
c.9210T>G (p.Val3070=)
c.9090T>G (p.Val3030=)
c.9021T>G (p.Val3007=)
c.7425T>G (p.Val2475=)
n.9561T>G
6g.51748331A>GCA450613540PKHD1c.9285T>C (p.Val3095=)
c.9156T>C (p.Val3052=)
c.9147T>C (p.Val3049=)
c.8643T>C (p.Val2881=)
c.8574T>C (p.Val2858=)
c.3360T>C (p.Val1120=)
c.9210T>C (p.Val3070=)
c.9090T>C (p.Val3030=)
c.9021T>C (p.Val3007=)
c.7425T>C (p.Val2475=)
n.9561T>C
 ClinVar
6g.51748331A>TCA450613541PKHD1c.9285T>A (p.Val3095=)
c.9156T>A (p.Val3052=)
c.9147T>A (p.Val3049=)
c.8643T>A (p.Val2881=)
c.8574T>A (p.Val2858=)
c.3360T>A (p.Val1120=)
c.9210T>A (p.Val3070=)
c.9090T>A (p.Val3030=)
c.9021T>A (p.Val3007=)
c.7425T>A (p.Val2475=)
n.9561T>A
 ClinVar dbSNP gnomAD v4
6g.51748332A=CA1628503126PKHD1c.9284T= (p.Val3095=)
c.9155T= (p.Val3052=)
c.9146T= (p.Val3049=)
c.8642T= (p.Val2881=)
c.8573T= (p.Val2858=)
c.3359T= (p.Val1120=)
c.9209T= (p.Val3070=)
c.9089T= (p.Val3030=)
c.9020T= (p.Val3007=)
c.7424T= (p.Val2475=)
n.9560T=
6g.51748332A>CCA364422399PKHD1c.9284T>G (p.Val3095Gly)
c.9155T>G (p.Val3052Gly)
c.9146T>G (p.Val3049Gly)
c.8642T>G (p.Val2881Gly)
c.8573T>G (p.Val2858Gly)
c.3359T>G (p.Val1120Gly)
c.9209T>G (p.Val3070Gly)
c.9089T>G (p.Val3030Gly)
c.9020T>G (p.Val3007Gly)
c.7424T>G (p.Val2475Gly)
n.9560T>G
6g.51748332A>GCA364422400PKHD1c.9284T>C (p.Val3095Ala)
c.9155T>C (p.Val3052Ala)
c.9146T>C (p.Val3049Ala)
c.8642T>C (p.Val2881Ala)
c.8573T>C (p.Val2858Ala)
c.3359T>C (p.Val1120Ala)
c.9209T>C (p.Val3070Ala)
c.9089T>C (p.Val3030Ala)
c.9020T>C (p.Val3007Ala)
c.7424T>C (p.Val2475Ala)
n.9560T>C
 gnomAD v4
6g.51748332A>TCA3851416PKHD1c.9284T>A (p.Val3095Asp)
c.9155T>A (p.Val3052Asp)
c.9146T>A (p.Val3049Asp)
c.8642T>A (p.Val2881Asp)
c.8573T>A (p.Val2858Asp)
c.3359T>A (p.Val1120Asp)
c.9209T>A (p.Val3070Asp)
c.9089T>A (p.Val3030Asp)
c.9020T>A (p.Val3007Asp)
c.7424T>A (p.Val2475Asp)
n.9560T>A
 dbSNP ExAC gnomAD v2
6g.51748333C>ACA364422401PKHD1c.9283G>T (p.Val3095Phe)
c.9154G>T (p.Val3052Phe)
c.9145G>T (p.Val3049Phe)
c.8641G>T (p.Val2881Phe)
c.8572G>T (p.Val2858Phe)
c.3358G>T (p.Val1120Phe)
c.9208G>T (p.Val3070Phe)
c.9088G>T (p.Val3030Phe)
c.9019G>T (p.Val3007Phe)
c.7423G>T (p.Val2475Phe)
n.9559G>T
 gnomAD v4 COSMIC COSMIC
6g.51748333C=CA1628503134PKHD1c.9283G= (p.Val3095=)
c.9154G= (p.Val3052=)
c.9145G= (p.Val3049=)
c.8641G= (p.Val2881=)
c.8572G= (p.Val2858=)
c.3358G= (p.Val1120=)
c.9208G= (p.Val3070=)
c.9088G= (p.Val3030=)
c.9019G= (p.Val3007=)
c.7423G= (p.Val2475=)
n.9559G=
6g.51748333C>GCA364422402PKHD1c.9283G>C (p.Val3095Leu)
c.9154G>C (p.Val3052Leu)
c.9145G>C (p.Val3049Leu)
c.8641G>C (p.Val2881Leu)
c.8572G>C (p.Val2858Leu)
c.3358G>C (p.Val1120Leu)
c.9208G>C (p.Val3070Leu)
c.9088G>C (p.Val3030Leu)
c.9019G>C (p.Val3007Leu)
c.7423G>C (p.Val2475Leu)
n.9559G>C
6g.51748333C>TCA3851417PKHD1c.9283G>A (p.Val3095Ile)
c.9154G>A (p.Val3052Ile)
c.9145G>A (p.Val3049Ile)
c.8641G>A (p.Val2881Ile)
c.8572G>A (p.Val2858Ile)
c.3358G>A (p.Val1120Ile)
c.9208G>A (p.Val3070Ile)
c.9088G>A (p.Val3030Ile)
c.9019G>A (p.Val3007Ile)
c.7423G>A (p.Val2475Ile)
n.9559G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51748334G>ACA3851418PKHD1c.9282C>T (p.Asn3094=)
c.9153C>T (p.Asn3051=)
c.9144C>T (p.Asn3048=)
c.8640C>T (p.Asn2880=)
c.8571C>T (p.Asn2857=)
c.3357C>T (p.Asn1119=)
c.9207C>T (p.Asn3069=)
c.9087C>T (p.Asn3029=)
c.9018C>T (p.Asn3006=)
c.7422C>T (p.Asn2474=)
n.9558C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51748334G>CCA364422403PKHD1c.9282C>G (p.Asn3094Lys)
c.9153C>G (p.Asn3051Lys)
c.9144C>G (p.Asn3048Lys)
c.8640C>G (p.Asn2880Lys)
c.8571C>G (p.Asn2857Lys)
c.3357C>G (p.Asn1119Lys)
c.9207C>G (p.Asn3069Lys)
c.9087C>G (p.Asn3029Lys)
c.9018C>G (p.Asn3006Lys)
c.7422C>G (p.Asn2474Lys)
n.9558C>G
6g.51748334G=CA1628503144PKHD1c.9282C= (p.Asn3094=)
c.9153C= (p.Asn3051=)
c.9144C= (p.Asn3048=)
c.8640C= (p.Asn2880=)
c.8571C= (p.Asn2857=)
c.3357C= (p.Asn1119=)
c.9207C= (p.Asn3069=)
c.9087C= (p.Asn3029=)
c.9018C= (p.Asn3006=)
c.7422C= (p.Asn2474=)
n.9558C=
6g.51748334G>TCA364422404PKHD1c.9282C>A (p.Asn3094Lys)
c.9153C>A (p.Asn3051Lys)
c.9144C>A (p.Asn3048Lys)
c.8640C>A (p.Asn2880Lys)
c.8571C>A (p.Asn2857Lys)
c.3357C>A (p.Asn1119Lys)
c.9207C>A (p.Asn3069Lys)
c.9087C>A (p.Asn3029Lys)
c.9018C>A (p.Asn3006Lys)
c.7422C>A (p.Asn2474Lys)
n.9558C>A
 COSMIC COSMIC
6g.51748335T>ACA364422405PKHD1c.9281A>T (p.Asn3094Ile)
c.9152A>T (p.Asn3051Ile)
c.9143A>T (p.Asn3048Ile)
c.8639A>T (p.Asn2880Ile)
c.8570A>T (p.Asn2857Ile)
c.3356A>T (p.Asn1119Ile)
c.9206A>T (p.Asn3069Ile)
c.9086A>T (p.Asn3029Ile)
c.9017A>T (p.Asn3006Ile)
c.7421A>T (p.Asn2474Ile)
n.9557A>T
6g.51748335T>CCA364422406PKHD1c.9281A>G (p.Asn3094Ser)
c.9152A>G (p.Asn3051Ser)
c.9143A>G (p.Asn3048Ser)
c.8639A>G (p.Asn2880Ser)
c.8570A>G (p.Asn2857Ser)
c.3356A>G (p.Asn1119Ser)
c.9206A>G (p.Asn3069Ser)
c.9086A>G (p.Asn3029Ser)
c.9017A>G (p.Asn3006Ser)
c.7421A>G (p.Asn2474Ser)
n.9557A>G
 gnomAD v4
6g.51748335T>GCA364422407PKHD1c.9281A>C (p.Asn3094Thr)
c.9152A>C (p.Asn3051Thr)
c.9143A>C (p.Asn3048Thr)
c.8639A>C (p.Asn2880Thr)
c.8570A>C (p.Asn2857Thr)
c.3356A>C (p.Asn1119Thr)
c.9206A>C (p.Asn3069Thr)
c.9086A>C (p.Asn3029Thr)
c.9017A>C (p.Asn3006Thr)
c.7421A>C (p.Asn2474Thr)
n.9557A>C
6g.51748336T>ACA364422408PKHD1c.9280A>T (p.Asn3094Tyr)
c.9151A>T (p.Asn3051Tyr)
c.9142A>T (p.Asn3048Tyr)
c.8638A>T (p.Asn2880Tyr)
c.8569A>T (p.Asn2857Tyr)
c.3355A>T (p.Asn1119Tyr)
c.9205A>T (p.Asn3069Tyr)
c.9085A>T (p.Asn3029Tyr)
c.9016A>T (p.Asn3006Tyr)
c.7420A>T (p.Asn2474Tyr)
n.9556A>T
6g.51748336T>CCA364422409PKHD1c.9280A>G (p.Asn3094Asp)
c.9151A>G (p.Asn3051Asp)
c.9142A>G (p.Asn3048Asp)
c.8638A>G (p.Asn2880Asp)
c.8569A>G (p.Asn2857Asp)
c.3355A>G (p.Asn1119Asp)
c.9205A>G (p.Asn3069Asp)
c.9085A>G (p.Asn3029Asp)
c.9016A>G (p.Asn3006Asp)
c.7420A>G (p.Asn2474Asp)
n.9556A>G
6g.51748336T>GCA364422410PKHD1c.9280A>C (p.Asn3094His)
c.9151A>C (p.Asn3051His)
c.9142A>C (p.Asn3048His)
c.8638A>C (p.Asn2880His)
c.8569A>C (p.Asn2857His)
c.3355A>C (p.Asn1119His)
c.9205A>C (p.Asn3069His)
c.9085A>C (p.Asn3029His)
c.9016A>C (p.Asn3006His)
c.7420A>C (p.Asn2474His)
n.9556A>C
 gnomAD v4

Number of alleles fetched