Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51746768dupCA645546416PKHD1c.9953dup (p.Ile3319AspfsTer4)
c.9824dup (p.Ile3276AspfsTer4)
c.9815dup (p.Ile3273AspfsTer4)
c.9311dup (p.Ile3105AspfsTer4)
c.9242dup (p.Ile3082AspfsTer4)
c.4028dup (p.Ile1344AspfsTer4)
c.9878dup (p.Ile3294AspfsTer4)
c.9758dup (p.Ile3254AspfsTer4)
c.9689dup (p.Ile3231AspfsTer4)
c.8093dup (p.Ile2699AspfsTer4)
n.10229dup
 COSMIC COSMIC
6g.51746767T>ACA364419295PKHD1c.9952A>T (p.Lys3318Ter)
c.9823A>T (p.Lys3275Ter)
c.9814A>T (p.Lys3272Ter)
c.9310A>T (p.Lys3104Ter)
c.9241A>T (p.Lys3081Ter)
c.4027A>T (p.Lys1343Ter)
c.9877A>T (p.Lys3293Ter)
c.9757A>T (p.Lys3253Ter)
c.9688A>T (p.Lys3230Ter)
c.8092A>T (p.Lys2698Ter)
n.10228A>T
6g.51746767T>CCA364419296PKHD1c.9952A>G (p.Lys3318Glu)
c.9823A>G (p.Lys3275Glu)
c.9814A>G (p.Lys3272Glu)
c.9310A>G (p.Lys3104Glu)
c.9241A>G (p.Lys3081Glu)
c.4027A>G (p.Lys1343Glu)
c.9877A>G (p.Lys3293Glu)
c.9757A>G (p.Lys3253Glu)
c.9688A>G (p.Lys3230Glu)
c.8092A>G (p.Lys2698Glu)
n.10228A>G
6g.51746767T>GCA364419298PKHD1c.9952A>C (p.Lys3318Gln)
c.9823A>C (p.Lys3275Gln)
c.9814A>C (p.Lys3272Gln)
c.9310A>C (p.Lys3104Gln)
c.9241A>C (p.Lys3081Gln)
c.4027A>C (p.Lys1343Gln)
c.9877A>C (p.Lys3293Gln)
c.9757A>C (p.Lys3253Gln)
c.9688A>C (p.Lys3230Gln)
c.8092A>C (p.Lys2698Gln)
n.10228A>C
 gnomAD v4
6g.51746768T>ACA450412346PKHD1c.9951A>T (p.Leu3317=)
c.9822A>T (p.Leu3274=)
c.9813A>T (p.Leu3271=)
c.9309A>T (p.Leu3103=)
c.9240A>T (p.Leu3080=)
c.4026A>T (p.Leu1342=)
c.9876A>T (p.Leu3292=)
c.9756A>T (p.Leu3252=)
c.9687A>T (p.Leu3229=)
c.8091A>T (p.Leu2697=)
n.10227A>T
6g.51746768T>CCA450412347PKHD1c.9951A>G (p.Leu3317=)
c.9822A>G (p.Leu3274=)
c.9813A>G (p.Leu3271=)
c.9309A>G (p.Leu3103=)
c.9240A>G (p.Leu3080=)
c.4026A>G (p.Leu1342=)
c.9876A>G (p.Leu3292=)
c.9756A>G (p.Leu3252=)
c.9687A>G (p.Leu3229=)
c.8091A>G (p.Leu2697=)
n.10227A>G
6g.51746768T>GCA450412349PKHD1c.9951A>C (p.Leu3317=)
c.9822A>C (p.Leu3274=)
c.9813A>C (p.Leu3271=)
c.9309A>C (p.Leu3103=)
c.9240A>C (p.Leu3080=)
c.4026A>C (p.Leu1342=)
c.9876A>C (p.Leu3292=)
c.9756A>C (p.Leu3252=)
c.9687A>C (p.Leu3229=)
c.8091A>C (p.Leu2697=)
n.10227A>C
6g.51746769A>CCA364419304PKHD1c.9950T>G (p.Leu3317Arg)
c.9821T>G (p.Leu3274Arg)
c.9812T>G (p.Leu3271Arg)
c.9308T>G (p.Leu3103Arg)
c.9239T>G (p.Leu3080Arg)
c.4025T>G (p.Leu1342Arg)
c.9875T>G (p.Leu3292Arg)
c.9755T>G (p.Leu3252Arg)
c.9686T>G (p.Leu3229Arg)
c.8090T>G (p.Leu2697Arg)
n.10226T>G
6g.51746769A>GCA364419302PKHD1c.9950T>C (p.Leu3317Pro)
c.9821T>C (p.Leu3274Pro)
c.9812T>C (p.Leu3271Pro)
c.9308T>C (p.Leu3103Pro)
c.9239T>C (p.Leu3080Pro)
c.4025T>C (p.Leu1342Pro)
c.9875T>C (p.Leu3292Pro)
c.9755T>C (p.Leu3252Pro)
c.9686T>C (p.Leu3229Pro)
c.8090T>C (p.Leu2697Pro)
n.10226T>C
6g.51746769A>TCA364419300PKHD1c.9950T>A (p.Leu3317Gln)
c.9821T>A (p.Leu3274Gln)
c.9812T>A (p.Leu3271Gln)
c.9308T>A (p.Leu3103Gln)
c.9239T>A (p.Leu3080Gln)
c.4025T>A (p.Leu1342Gln)
c.9875T>A (p.Leu3292Gln)
c.9755T>A (p.Leu3252Gln)
c.9686T>A (p.Leu3229Gln)
c.8090T>A (p.Leu2697Gln)
n.10226T>A
6g.51746770G>ACA450412350PKHD1c.9949C>T (p.Leu3317=)
c.9820C>T (p.Leu3274=)
c.9811C>T (p.Leu3271=)
c.9307C>T (p.Leu3103=)
c.9238C>T (p.Leu3080=)
c.4024C>T (p.Leu1342=)
c.9874C>T (p.Leu3292=)
c.9754C>T (p.Leu3252=)
c.9685C>T (p.Leu3229=)
c.8089C>T (p.Leu2697=)
n.10225C>T
6g.51746770G>CCA364419306PKHD1c.9949C>G (p.Leu3317Val)
c.9820C>G (p.Leu3274Val)
c.9811C>G (p.Leu3271Val)
c.9307C>G (p.Leu3103Val)
c.9238C>G (p.Leu3080Val)
c.4024C>G (p.Leu1342Val)
c.9874C>G (p.Leu3292Val)
c.9754C>G (p.Leu3252Val)
c.9685C>G (p.Leu3229Val)
c.8089C>G (p.Leu2697Val)
n.10225C>G
6g.51746770G>TCA364419307PKHD1c.9949C>A (p.Leu3317Ile)
c.9820C>A (p.Leu3274Ile)
c.9811C>A (p.Leu3271Ile)
c.9307C>A (p.Leu3103Ile)
c.9238C>A (p.Leu3080Ile)
c.4024C>A (p.Leu1342Ile)
c.9874C>A (p.Leu3292Ile)
c.9754C>A (p.Leu3252Ile)
c.9685C>A (p.Leu3229Ile)
c.8089C>A (p.Leu2697Ile)
n.10225C>A
6g.51746770_51746778delCA645546417PKHD1c.9941_9949del (p.Thr3314_Leu3317delinsIle)
c.9812_9820del (p.Thr3271_Leu3274delinsIle)
c.9803_9811del (p.Thr3268_Leu3271delinsIle)
c.9299_9307del (p.Thr3100_Leu3103delinsIle)
c.9230_9238del (p.Thr3077_Leu3080delinsIle)
c.4016_4024del (p.Thr1339_Leu1342delinsIle)
c.9866_9874del (p.Thr3289_Leu3292delinsIle)
c.9746_9754del (p.Thr3249_Leu3252delinsIle)
c.9677_9685del (p.Thr3226_Leu3229delinsIle)
c.8081_8089del (p.Thr2694_Leu2697delinsIle)
n.10217_10225del
 COSMIC COSMIC
6g.51746771C>ACA364419310PKHD1c.9948G>T (p.Met3316Ile)
c.9819G>T (p.Met3273Ile)
c.9810G>T (p.Met3270Ile)
c.9306G>T (p.Met3102Ile)
c.9237G>T (p.Met3079Ile)
c.4023G>T (p.Met1341Ile)
c.9873G>T (p.Met3291Ile)
c.9753G>T (p.Met3251Ile)
c.9684G>T (p.Met3228Ile)
c.8088G>T (p.Met2696Ile)
n.10224G>T
6g.51746771C>GCA364419312PKHD1c.9948G>C (p.Met3316Ile)
c.9819G>C (p.Met3273Ile)
c.9810G>C (p.Met3270Ile)
c.9306G>C (p.Met3102Ile)
c.9237G>C (p.Met3079Ile)
c.4023G>C (p.Met1341Ile)
c.9873G>C (p.Met3291Ile)
c.9753G>C (p.Met3251Ile)
c.9684G>C (p.Met3228Ile)
c.8088G>C (p.Met2696Ile)
n.10224G>C
6g.51746771C>TCA364419313PKHD1c.9948G>A (p.Met3316Ile)
c.9819G>A (p.Met3273Ile)
c.9810G>A (p.Met3270Ile)
c.9306G>A (p.Met3102Ile)
c.9237G>A (p.Met3079Ile)
c.4023G>A (p.Met1341Ile)
c.9873G>A (p.Met3291Ile)
c.9753G>A (p.Met3251Ile)
c.9684G>A (p.Met3228Ile)
c.8088G>A (p.Met2696Ile)
n.10224G>A
6g.51746772A>CCA364419314PKHD1c.9947T>G (p.Met3316Arg)
c.9818T>G (p.Met3273Arg)
c.9809T>G (p.Met3270Arg)
c.9305T>G (p.Met3102Arg)
c.9236T>G (p.Met3079Arg)
c.4022T>G (p.Met1341Arg)
c.9872T>G (p.Met3291Arg)
c.9752T>G (p.Met3251Arg)
c.9683T>G (p.Met3228Arg)
c.8087T>G (p.Met2696Arg)
n.10223T>G
6g.51746772A>GCA364419316PKHD1c.9947T>C (p.Met3316Thr)
c.9818T>C (p.Met3273Thr)
c.9809T>C (p.Met3270Thr)
c.9305T>C (p.Met3102Thr)
c.9236T>C (p.Met3079Thr)
c.4022T>C (p.Met1341Thr)
c.9872T>C (p.Met3291Thr)
c.9752T>C (p.Met3251Thr)
c.9683T>C (p.Met3228Thr)
c.8087T>C (p.Met2696Thr)
n.10223T>C
6g.51746772A>TCA364419318PKHD1c.9947T>A (p.Met3316Lys)
c.9818T>A (p.Met3273Lys)
c.9809T>A (p.Met3270Lys)
c.9305T>A (p.Met3102Lys)
c.9236T>A (p.Met3079Lys)
c.4022T>A (p.Met1341Lys)
c.9872T>A (p.Met3291Lys)
c.9752T>A (p.Met3251Lys)
c.9683T>A (p.Met3228Lys)
c.8087T>A (p.Met2696Lys)
n.10223T>A
 gnomAD v3 gnomAD v4
6g.51746773T>ACA364419320PKHD1c.9946A>T (p.Met3316Leu)
c.9817A>T (p.Met3273Leu)
c.9808A>T (p.Met3270Leu)
c.9304A>T (p.Met3102Leu)
c.9235A>T (p.Met3079Leu)
c.4021A>T (p.Met1341Leu)
c.9871A>T (p.Met3291Leu)
c.9751A>T (p.Met3251Leu)
c.9682A>T (p.Met3228Leu)
c.8086A>T (p.Met2696Leu)
n.10222A>T
6g.51746773T>CCA364419321PKHD1c.9946A>G (p.Met3316Val)
c.9817A>G (p.Met3273Val)
c.9808A>G (p.Met3270Val)
c.9304A>G (p.Met3102Val)
c.9235A>G (p.Met3079Val)
c.4021A>G (p.Met1341Val)
c.9871A>G (p.Met3291Val)
c.9751A>G (p.Met3251Val)
c.9682A>G (p.Met3228Val)
c.8086A>G (p.Met2696Val)
n.10222A>G
 gnomAD v4
6g.51746773T>GCA364419323PKHD1c.9946A>C (p.Met3316Leu)
c.9817A>C (p.Met3273Leu)
c.9808A>C (p.Met3270Leu)
c.9304A>C (p.Met3102Leu)
c.9235A>C (p.Met3079Leu)
c.4021A>C (p.Met1341Leu)
c.9871A>C (p.Met3291Leu)
c.9751A>C (p.Met3251Leu)
c.9682A>C (p.Met3228Leu)
c.8086A>C (p.Met2696Leu)
n.10222A>C
6g.51746774C>ACA364419325PKHD1c.9945G>T (p.Arg3315Ser)
c.9816G>T (p.Arg3272Ser)
c.9807G>T (p.Arg3269Ser)
c.9303G>T (p.Arg3101Ser)
c.9234G>T (p.Arg3078Ser)
c.4020G>T (p.Arg1340Ser)
c.9870G>T (p.Arg3290Ser)
c.9750G>T (p.Arg3250Ser)
c.9681G>T (p.Arg3227Ser)
c.8085G>T (p.Arg2695Ser)
n.10221G>T
 gnomAD v4
6g.51746774C>GCA364419327PKHD1c.9945G>C (p.Arg3315Ser)
c.9816G>C (p.Arg3272Ser)
c.9807G>C (p.Arg3269Ser)
c.9303G>C (p.Arg3101Ser)
c.9234G>C (p.Arg3078Ser)
c.4020G>C (p.Arg1340Ser)
c.9870G>C (p.Arg3290Ser)
c.9750G>C (p.Arg3250Ser)
c.9681G>C (p.Arg3227Ser)
c.8085G>C (p.Arg2695Ser)
n.10221G>C
 gnomAD v4
6g.51746774C>TCA450412358PKHD1c.9945G>A (p.Arg3315=)
c.9816G>A (p.Arg3272=)
c.9807G>A (p.Arg3269=)
c.9303G>A (p.Arg3101=)
c.9234G>A (p.Arg3078=)
c.4020G>A (p.Arg1340=)
c.9870G>A (p.Arg3290=)
c.9750G>A (p.Arg3250=)
c.9681G>A (p.Arg3227=)
c.8085G>A (p.Arg2695=)
n.10221G>A
6g.51746775delCA2697553460PKHD1c.9945del (p.Met3316CysfsTer2)
c.9816del (p.Met3273CysfsTer2)
c.9807del (p.Met3270CysfsTer2)
c.9303del (p.Met3102CysfsTer2)
c.9234del (p.Met3079CysfsTer2)
c.4020del (p.Met1341CysfsTer2)
c.9870del (p.Met3291CysfsTer2)
c.9750del (p.Met3251CysfsTer2)
c.9681del (p.Met3228CysfsTer2)
c.8085del (p.Met2696CysfsTer2)
n.10221del
 ClinVar
6g.51746775C>ACA364419329PKHD1c.9944G>T (p.Arg3315Met)
c.9815G>T (p.Arg3272Met)
c.9806G>T (p.Arg3269Met)
c.9302G>T (p.Arg3101Met)
c.9233G>T (p.Arg3078Met)
c.4019G>T (p.Arg1340Met)
c.9869G>T (p.Arg3290Met)
c.9749G>T (p.Arg3250Met)
c.9680G>T (p.Arg3227Met)
c.8084G>T (p.Arg2695Met)
n.10220G>T
6g.51746775C>GCA364419331PKHD1c.9944G>C (p.Arg3315Thr)
c.9815G>C (p.Arg3272Thr)
c.9806G>C (p.Arg3269Thr)
c.9302G>C (p.Arg3101Thr)
c.9233G>C (p.Arg3078Thr)
c.4019G>C (p.Arg1340Thr)
c.9869G>C (p.Arg3290Thr)
c.9749G>C (p.Arg3250Thr)
c.9680G>C (p.Arg3227Thr)
c.8084G>C (p.Arg2695Thr)
n.10220G>C
6g.51746775C>TCA364419332PKHD1c.9944G>A (p.Arg3315Lys)
c.9815G>A (p.Arg3272Lys)
c.9806G>A (p.Arg3269Lys)
c.9302G>A (p.Arg3101Lys)
c.9233G>A (p.Arg3078Lys)
c.4019G>A (p.Arg1340Lys)
c.9869G>A (p.Arg3290Lys)
c.9749G>A (p.Arg3250Lys)
c.9680G>A (p.Arg3227Lys)
c.8084G>A (p.Arg2695Lys)
n.10220G>A
6g.51746776T>ACA364419333PKHD1c.9943A>T (p.Arg3315Trp)
c.9814A>T (p.Arg3272Trp)
c.9805A>T (p.Arg3269Trp)
c.9301A>T (p.Arg3101Trp)
c.9232A>T (p.Arg3078Trp)
c.4018A>T (p.Arg1340Trp)
c.9868A>T (p.Arg3290Trp)
c.9748A>T (p.Arg3250Trp)
c.9679A>T (p.Arg3227Trp)
c.8083A>T (p.Arg2695Trp)
n.10219A>T
6g.51746776T>CCA364419335PKHD1c.9943A>G (p.Arg3315Gly)
c.9814A>G (p.Arg3272Gly)
c.9805A>G (p.Arg3269Gly)
c.9301A>G (p.Arg3101Gly)
c.9232A>G (p.Arg3078Gly)
c.4018A>G (p.Arg1340Gly)
c.9868A>G (p.Arg3290Gly)
c.9748A>G (p.Arg3250Gly)
c.9679A>G (p.Arg3227Gly)
c.8083A>G (p.Arg2695Gly)
n.10219A>G
 gnomAD v4
6g.51746776T>GCA450412359PKHD1c.9943A>C (p.Arg3315=)
c.9814A>C (p.Arg3272=)
c.9805A>C (p.Arg3269=)
c.9301A>C (p.Arg3101=)
c.9232A>C (p.Arg3078=)
c.4018A>C (p.Arg1340=)
c.9868A>C (p.Arg3290=)
c.9748A>C (p.Arg3250=)
c.9679A>C (p.Arg3227=)
c.8083A>C (p.Arg2695=)
n.10219A>C
6g.51746777G>ACA450412361PKHD1c.9942C>T (p.Thr3314=)
c.9813C>T (p.Thr3271=)
c.9804C>T (p.Thr3268=)
c.9300C>T (p.Thr3100=)
c.9231C>T (p.Thr3077=)
c.4017C>T (p.Thr1339=)
c.9867C>T (p.Thr3289=)
c.9747C>T (p.Thr3249=)
c.9678C>T (p.Thr3226=)
c.8082C>T (p.Thr2694=)
n.10218C>T
6g.51746777G>CCA3851288PKHD1c.9942C>G (p.Thr3314=)
c.9813C>G (p.Thr3271=)
c.9804C>G (p.Thr3268=)
c.9300C>G (p.Thr3100=)
c.9231C>G (p.Thr3077=)
c.4017C>G (p.Thr1339=)
c.9867C>G (p.Thr3289=)
c.9747C>G (p.Thr3249=)
c.9678C>G (p.Thr3226=)
c.8082C>G (p.Thr2694=)
n.10218C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51746777G=CA1628500401PKHD1c.9942C= (p.Thr3314=)
c.9813C= (p.Thr3271=)
c.9804C= (p.Thr3268=)
c.9300C= (p.Thr3100=)
c.9231C= (p.Thr3077=)
c.4017C= (p.Thr1339=)
c.9867C= (p.Thr3289=)
c.9747C= (p.Thr3249=)
c.9678C= (p.Thr3226=)
c.8082C= (p.Thr2694=)
n.10218C=
6g.51746777G>TCA450412360PKHD1c.9942C>A (p.Thr3314=)
c.9813C>A (p.Thr3271=)
c.9804C>A (p.Thr3268=)
c.9300C>A (p.Thr3100=)
c.9231C>A (p.Thr3077=)
c.4017C>A (p.Thr1339=)
c.9867C>A (p.Thr3289=)
c.9747C>A (p.Thr3249=)
c.9678C>A (p.Thr3226=)
c.8082C>A (p.Thr2694=)
n.10218C>A
6g.51746778G>ACA364419339PKHD1c.9941C>T (p.Thr3314Ile)
c.9812C>T (p.Thr3271Ile)
c.9803C>T (p.Thr3268Ile)
c.9299C>T (p.Thr3100Ile)
c.9230C>T (p.Thr3077Ile)
c.4016C>T (p.Thr1339Ile)
c.9866C>T (p.Thr3289Ile)
c.9746C>T (p.Thr3249Ile)
c.9677C>T (p.Thr3226Ile)
c.8081C>T (p.Thr2694Ile)
n.10217C>T
6g.51746778G>CCA364419340PKHD1c.9941C>G (p.Thr3314Ser)
c.9812C>G (p.Thr3271Ser)
c.9803C>G (p.Thr3268Ser)
c.9299C>G (p.Thr3100Ser)
c.9230C>G (p.Thr3077Ser)
c.4016C>G (p.Thr1339Ser)
c.9866C>G (p.Thr3289Ser)
c.9746C>G (p.Thr3249Ser)
c.9677C>G (p.Thr3226Ser)
c.8081C>G (p.Thr2694Ser)
n.10217C>G
6g.51746778G>TCA364419342PKHD1c.9941C>A (p.Thr3314Asn)
c.9812C>A (p.Thr3271Asn)
c.9803C>A (p.Thr3268Asn)
c.9299C>A (p.Thr3100Asn)
c.9230C>A (p.Thr3077Asn)
c.4016C>A (p.Thr1339Asn)
c.9866C>A (p.Thr3289Asn)
c.9746C>A (p.Thr3249Asn)
c.9677C>A (p.Thr3226Asn)
c.8081C>A (p.Thr2694Asn)
n.10217C>A
6g.51746779T>ACA364419343PKHD1c.9940A>T (p.Thr3314Ser)
c.9811A>T (p.Thr3271Ser)
c.9802A>T (p.Thr3268Ser)
c.9298A>T (p.Thr3100Ser)
c.9229A>T (p.Thr3077Ser)
c.4015A>T (p.Thr1339Ser)
c.9865A>T (p.Thr3289Ser)
c.9745A>T (p.Thr3249Ser)
c.9676A>T (p.Thr3226Ser)
c.8080A>T (p.Thr2694Ser)
n.10216A>T
6g.51746779T>CCA364419345PKHD1c.9940A>G (p.Thr3314Ala)
c.9811A>G (p.Thr3271Ala)
c.9802A>G (p.Thr3268Ala)
c.9298A>G (p.Thr3100Ala)
c.9229A>G (p.Thr3077Ala)
c.4015A>G (p.Thr1339Ala)
c.9865A>G (p.Thr3289Ala)
c.9745A>G (p.Thr3249Ala)
c.9676A>G (p.Thr3226Ala)
c.8080A>G (p.Thr2694Ala)
n.10216A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51746779T>GCA364419347PKHD1c.9940A>C (p.Thr3314Pro)
c.9811A>C (p.Thr3271Pro)
c.9802A>C (p.Thr3268Pro)
c.9298A>C (p.Thr3100Pro)
c.9229A>C (p.Thr3077Pro)
c.4015A>C (p.Thr1339Pro)
c.9865A>C (p.Thr3289Pro)
c.9745A>C (p.Thr3249Pro)
c.9676A>C (p.Thr3226Pro)
c.8080A>C (p.Thr2694Pro)
n.10216A>C
6g.51746779T=CA1628500404PKHD1c.9940A= (p.Thr3314=)
c.9811A= (p.Thr3271=)
c.9802A= (p.Thr3268=)
c.9298A= (p.Thr3100=)
c.9229A= (p.Thr3077=)
c.4015A= (p.Thr1339=)
c.9865A= (p.Thr3289=)
c.9745A= (p.Thr3249=)
c.9676A= (p.Thr3226=)
c.8080A= (p.Thr2694=)
n.10216A=
6g.51746780C>ACA364419349PKHD1c.9939G>T (p.Arg3313Ser)
c.9810G>T (p.Arg3270Ser)
c.9801G>T (p.Arg3267Ser)
c.9297G>T (p.Arg3099Ser)
c.9228G>T (p.Arg3076Ser)
c.4014G>T (p.Arg1338Ser)
c.9864G>T (p.Arg3288Ser)
c.9744G>T (p.Arg3248Ser)
c.9675G>T (p.Arg3225Ser)
c.8079G>T (p.Arg2693Ser)
n.10215G>T
6g.51746780C>GCA364419351PKHD1c.9939G>C (p.Arg3313Ser)
c.9810G>C (p.Arg3270Ser)
c.9801G>C (p.Arg3267Ser)
c.9297G>C (p.Arg3099Ser)
c.9228G>C (p.Arg3076Ser)
c.4014G>C (p.Arg1338Ser)
c.9864G>C (p.Arg3288Ser)
c.9744G>C (p.Arg3248Ser)
c.9675G>C (p.Arg3225Ser)
c.8079G>C (p.Arg2693Ser)
n.10215G>C
6g.51746780C>TCA450412362PKHD1c.9939G>A (p.Arg3313=)
c.9810G>A (p.Arg3270=)
c.9801G>A (p.Arg3267=)
c.9297G>A (p.Arg3099=)
c.9228G>A (p.Arg3076=)
c.4014G>A (p.Arg1338=)
c.9864G>A (p.Arg3288=)
c.9744G>A (p.Arg3248=)
c.9675G>A (p.Arg3225=)
c.8079G>A (p.Arg2693=)
n.10215G>A
 gnomAD v4
6g.51746781C>ACA364419353PKHD1c.9938G>T (p.Arg3313Met)
c.9809G>T (p.Arg3270Met)
c.9800G>T (p.Arg3267Met)
c.9296G>T (p.Arg3099Met)
c.9227G>T (p.Arg3076Met)
c.4013G>T (p.Arg1338Met)
c.9863G>T (p.Arg3288Met)
c.9743G>T (p.Arg3248Met)
c.9674G>T (p.Arg3225Met)
c.8078G>T (p.Arg2693Met)
n.10214G>T
6g.51746781C=CA1628500410PKHD1c.9938G= (p.Arg3313=)
c.9809G= (p.Arg3270=)
c.9800G= (p.Arg3267=)
c.9296G= (p.Arg3099=)
c.9227G= (p.Arg3076=)
c.4013G= (p.Arg1338=)
c.9863G= (p.Arg3288=)
c.9743G= (p.Arg3248=)
c.9674G= (p.Arg3225=)
c.8078G= (p.Arg2693=)
n.10214G=
6g.51746781C>GCA364419355PKHD1c.9938G>C (p.Arg3313Thr)
c.9809G>C (p.Arg3270Thr)
c.9800G>C (p.Arg3267Thr)
c.9296G>C (p.Arg3099Thr)
c.9227G>C (p.Arg3076Thr)
c.4013G>C (p.Arg1338Thr)
c.9863G>C (p.Arg3288Thr)
c.9743G>C (p.Arg3248Thr)
c.9674G>C (p.Arg3225Thr)
c.8078G>C (p.Arg2693Thr)
n.10214G>C
6g.51746781C>TCA3851289PKHD1c.9938G>A (p.Arg3313Lys)
c.9809G>A (p.Arg3270Lys)
c.9800G>A (p.Arg3267Lys)
c.9296G>A (p.Arg3099Lys)
c.9227G>A (p.Arg3076Lys)
c.4013G>A (p.Arg1338Lys)
c.9863G>A (p.Arg3288Lys)
c.9743G>A (p.Arg3248Lys)
c.9674G>A (p.Arg3225Lys)
c.8078G>A (p.Arg2693Lys)
n.10214G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51746785_51746786delCA2679078435PKHD1c.9937_9938del (p.Arg3313AspfsTer9)
c.9808_9809del (p.Arg3270AspfsTer9)
c.9799_9800del (p.Arg3267AspfsTer9)
c.9295_9296del (p.Arg3099AspfsTer9)
c.9226_9227del (p.Arg3076AspfsTer9)
c.4012_4013del (p.Arg1338AspfsTer9)
c.9862_9863del (p.Arg3288AspfsTer9)
c.9742_9743del (p.Arg3248AspfsTer9)
c.9673_9674del (p.Arg3225AspfsTer9)
c.8077_8078del (p.Arg2693AspfsTer9)
n.10213_10214del
 ClinVar gnomAD v4
6g.51746782T>ACA364419358PKHD1c.9937A>T (p.Arg3313Trp)
c.9808A>T (p.Arg3270Trp)
c.9799A>T (p.Arg3267Trp)
c.9295A>T (p.Arg3099Trp)
c.9226A>T (p.Arg3076Trp)
c.4012A>T (p.Arg1338Trp)
c.9862A>T (p.Arg3288Trp)
c.9742A>T (p.Arg3248Trp)
c.9673A>T (p.Arg3225Trp)
c.8077A>T (p.Arg2693Trp)
n.10213A>T
6g.51746782T>CCA364419359PKHD1c.9937A>G (p.Arg3313Gly)
c.9808A>G (p.Arg3270Gly)
c.9799A>G (p.Arg3267Gly)
c.9295A>G (p.Arg3099Gly)
c.9226A>G (p.Arg3076Gly)
c.4012A>G (p.Arg1338Gly)
c.9862A>G (p.Arg3288Gly)
c.9742A>G (p.Arg3248Gly)
c.9673A>G (p.Arg3225Gly)
c.8077A>G (p.Arg2693Gly)
n.10213A>G
6g.51746782T>GCA450412363PKHD1c.9937A>C (p.Arg3313=)
c.9808A>C (p.Arg3270=)
c.9799A>C (p.Arg3267=)
c.9295A>C (p.Arg3099=)
c.9226A>C (p.Arg3076=)
c.4012A>C (p.Arg1338=)
c.9862A>C (p.Arg3288=)
c.9742A>C (p.Arg3248=)
c.9673A>C (p.Arg3225=)
c.8077A>C (p.Arg2693=)
n.10213A>C
 dbSNP
6g.51746782T=CA1628500419PKHD1c.9937A= (p.Arg3313=)
c.9808A= (p.Arg3270=)
c.9799A= (p.Arg3267=)
c.9295A= (p.Arg3099=)
c.9226A= (p.Arg3076=)
c.4012A= (p.Arg1338=)
c.9862A= (p.Arg3288=)
c.9742A= (p.Arg3248=)
c.9673A= (p.Arg3225=)
c.8077A= (p.Arg2693=)
n.10213A=
6g.51746783C>ACA364419361PKHD1c.9936G>T (p.Glu3312Asp)
c.9807G>T (p.Glu3269Asp)
c.9798G>T (p.Glu3266Asp)
c.9294G>T (p.Glu3098Asp)
c.9225G>T (p.Glu3075Asp)
c.4011G>T (p.Glu1337Asp)
c.9861G>T (p.Glu3287Asp)
c.9741G>T (p.Glu3247Asp)
c.9672G>T (p.Glu3224Asp)
c.8076G>T (p.Glu2692Asp)
n.10212G>T
6g.51746783C>GCA364419362PKHD1c.9936G>C (p.Glu3312Asp)
c.9807G>C (p.Glu3269Asp)
c.9798G>C (p.Glu3266Asp)
c.9294G>C (p.Glu3098Asp)
c.9225G>C (p.Glu3075Asp)
c.4011G>C (p.Glu1337Asp)
c.9861G>C (p.Glu3287Asp)
c.9741G>C (p.Glu3247Asp)
c.9672G>C (p.Glu3224Asp)
c.8076G>C (p.Glu2692Asp)
n.10212G>C
6g.51746783C>TCA450412364PKHD1c.9936G>A (p.Glu3312=)
c.9807G>A (p.Glu3269=)
c.9798G>A (p.Glu3266=)
c.9294G>A (p.Glu3098=)
c.9225G>A (p.Glu3075=)
c.4011G>A (p.Glu1337=)
c.9861G>A (p.Glu3287=)
c.9741G>A (p.Glu3247=)
c.9672G>A (p.Glu3224=)
c.8076G>A (p.Glu2692=)
n.10212G>A
6g.51746784T>ACA364419365PKHD1c.9935A>T (p.Glu3312Val)
c.9806A>T (p.Glu3269Val)
c.9797A>T (p.Glu3266Val)
c.9293A>T (p.Glu3098Val)
c.9224A>T (p.Glu3075Val)
c.4010A>T (p.Glu1337Val)
c.9860A>T (p.Glu3287Val)
c.9740A>T (p.Glu3247Val)
c.9671A>T (p.Glu3224Val)
c.8075A>T (p.Glu2692Val)
n.10211A>T
6g.51746784T>CCA364419367PKHD1c.9935A>G (p.Glu3312Gly)
c.9806A>G (p.Glu3269Gly)
c.9797A>G (p.Glu3266Gly)
c.9293A>G (p.Glu3098Gly)
c.9224A>G (p.Glu3075Gly)
c.4010A>G (p.Glu1337Gly)
c.9860A>G (p.Glu3287Gly)
c.9740A>G (p.Glu3247Gly)
c.9671A>G (p.Glu3224Gly)
c.8075A>G (p.Glu2692Gly)
n.10211A>G
6g.51746784T>GCA364419369PKHD1c.9935A>C (p.Glu3312Ala)
c.9806A>C (p.Glu3269Ala)
c.9797A>C (p.Glu3266Ala)
c.9293A>C (p.Glu3098Ala)
c.9224A>C (p.Glu3075Ala)
c.4010A>C (p.Glu1337Ala)
c.9860A>C (p.Glu3287Ala)
c.9740A>C (p.Glu3247Ala)
c.9671A>C (p.Glu3224Ala)
c.8075A>C (p.Glu2692Ala)
n.10211A>C
6g.51746785C>ACA364419374PKHD1c.9934G>T (p.Glu3312Ter)
c.9805G>T (p.Glu3269Ter)
c.9796G>T (p.Glu3266Ter)
c.9292G>T (p.Glu3098Ter)
c.9223G>T (p.Glu3075Ter)
c.4009G>T (p.Glu1337Ter)
c.9859G>T (p.Glu3287Ter)
c.9739G>T (p.Glu3247Ter)
c.9670G>T (p.Glu3224Ter)
c.8074G>T (p.Glu2692Ter)
n.10210G>T
6g.51746785C>GCA364419373PKHD1c.9934G>C (p.Glu3312Gln)
c.9805G>C (p.Glu3269Gln)
c.9796G>C (p.Glu3266Gln)
c.9292G>C (p.Glu3098Gln)
c.9223G>C (p.Glu3075Gln)
c.4009G>C (p.Glu1337Gln)
c.9859G>C (p.Glu3287Gln)
c.9739G>C (p.Glu3247Gln)
c.9670G>C (p.Glu3224Gln)
c.8074G>C (p.Glu2692Gln)
n.10210G>C
6g.51746785C>TCA364419371PKHD1c.9934G>A (p.Glu3312Lys)
c.9805G>A (p.Glu3269Lys)
c.9796G>A (p.Glu3266Lys)
c.9292G>A (p.Glu3098Lys)
c.9223G>A (p.Glu3075Lys)
c.4009G>A (p.Glu1337Lys)
c.9859G>A (p.Glu3287Lys)
c.9739G>A (p.Glu3247Lys)
c.9670G>A (p.Glu3224Lys)
c.8074G>A (p.Glu2692Lys)
n.10210G>A
 gnomAD v4
6g.51746786T>ACA450412365PKHD1c.9933A>T (p.Ala3311=)
c.9804A>T (p.Ala3268=)
c.9795A>T (p.Ala3265=)
c.9291A>T (p.Ala3097=)
c.9222A>T (p.Ala3074=)
c.4008A>T (p.Ala1336=)
c.9858A>T (p.Ala3286=)
c.9738A>T (p.Ala3246=)
c.9669A>T (p.Ala3223=)
c.8073A>T (p.Ala2691=)
n.10209A>T
6g.51746786T>CCA450412366PKHD1c.9933A>G (p.Ala3311=)
c.9804A>G (p.Ala3268=)
c.9795A>G (p.Ala3265=)
c.9291A>G (p.Ala3097=)
c.9222A>G (p.Ala3074=)
c.4008A>G (p.Ala1336=)
c.9858A>G (p.Ala3286=)
c.9738A>G (p.Ala3246=)
c.9669A>G (p.Ala3223=)
c.8073A>G (p.Ala2691=)
n.10209A>G
6g.51746786T>GCA450412367PKHD1c.9933A>C (p.Ala3311=)
c.9804A>C (p.Ala3268=)
c.9795A>C (p.Ala3265=)
c.9291A>C (p.Ala3097=)
c.9222A>C (p.Ala3074=)
c.4008A>C (p.Ala1336=)
c.9858A>C (p.Ala3286=)
c.9738A>C (p.Ala3246=)
c.9669A>C (p.Ala3223=)
c.8073A>C (p.Ala2691=)
n.10209A>C
6g.51746787G>ACA364419376PKHD1c.9932C>T (p.Ala3311Val)
c.9803C>T (p.Ala3268Val)
c.9794C>T (p.Ala3265Val)
c.9290C>T (p.Ala3097Val)
c.9221C>T (p.Ala3074Val)
c.4007C>T (p.Ala1336Val)
c.9857C>T (p.Ala3286Val)
c.9737C>T (p.Ala3246Val)
c.9668C>T (p.Ala3223Val)
c.8072C>T (p.Ala2691Val)
n.10208C>T
6g.51746787G>CCA364419378PKHD1c.9932C>G (p.Ala3311Gly)
c.9803C>G (p.Ala3268Gly)
c.9794C>G (p.Ala3265Gly)
c.9290C>G (p.Ala3097Gly)
c.9221C>G (p.Ala3074Gly)
c.4007C>G (p.Ala1336Gly)
c.9857C>G (p.Ala3286Gly)
c.9737C>G (p.Ala3246Gly)
c.9668C>G (p.Ala3223Gly)
c.8072C>G (p.Ala2691Gly)
n.10208C>G
 dbSNP gnomAD v4
6g.51746787G=CA1628500421PKHD1c.9932C= (p.Ala3311=)
c.9803C= (p.Ala3268=)
c.9794C= (p.Ala3265=)
c.9290C= (p.Ala3097=)
c.9221C= (p.Ala3074=)
c.4007C= (p.Ala1336=)
c.9857C= (p.Ala3286=)
c.9737C= (p.Ala3246=)
c.9668C= (p.Ala3223=)
c.8072C= (p.Ala2691=)
n.10208C=
6g.51746787G>TCA364419380PKHD1c.9932C>A (p.Ala3311Glu)
c.9803C>A (p.Ala3268Glu)
c.9794C>A (p.Ala3265Glu)
c.9290C>A (p.Ala3097Glu)
c.9221C>A (p.Ala3074Glu)
c.4007C>A (p.Ala1336Glu)
c.9857C>A (p.Ala3286Glu)
c.9737C>A (p.Ala3246Glu)
c.9668C>A (p.Ala3223Glu)
c.8072C>A (p.Ala2691Glu)
n.10208C>A
6g.51746788C>ACA364419382PKHD1c.9931G>T (p.Ala3311Ser)
c.9802G>T (p.Ala3268Ser)
c.9793G>T (p.Ala3265Ser)
c.9289G>T (p.Ala3097Ser)
c.9220G>T (p.Ala3074Ser)
c.4006G>T (p.Ala1336Ser)
c.9856G>T (p.Ala3286Ser)
c.9736G>T (p.Ala3246Ser)
c.9667G>T (p.Ala3223Ser)
c.8071G>T (p.Ala2691Ser)
n.10207G>T
6g.51746788C=CA1628500423PKHD1c.9931G= (p.Ala3311=)
c.9802G= (p.Ala3268=)
c.9793G= (p.Ala3265=)
c.9289G= (p.Ala3097=)
c.9220G= (p.Ala3074=)
c.4006G= (p.Ala1336=)
c.9856G= (p.Ala3286=)
c.9736G= (p.Ala3246=)
c.9667G= (p.Ala3223=)
c.8071G= (p.Ala2691=)
n.10207G=
6g.51746788C>GCA364419384PKHD1c.9931G>C (p.Ala3311Pro)
c.9802G>C (p.Ala3268Pro)
c.9793G>C (p.Ala3265Pro)
c.9289G>C (p.Ala3097Pro)
c.9220G>C (p.Ala3074Pro)
c.4006G>C (p.Ala1336Pro)
c.9856G>C (p.Ala3286Pro)
c.9736G>C (p.Ala3246Pro)
c.9667G>C (p.Ala3223Pro)
c.8071G>C (p.Ala2691Pro)
n.10207G>C
6g.51746788C>TCA138894990PKHD1c.9931G>A (p.Ala3311Thr)
c.9802G>A (p.Ala3268Thr)
c.9793G>A (p.Ala3265Thr)
c.9289G>A (p.Ala3097Thr)
c.9220G>A (p.Ala3074Thr)
c.4006G>A (p.Ala1336Thr)
c.9856G>A (p.Ala3286Thr)
c.9736G>A (p.Ala3246Thr)
c.9667G>A (p.Ala3223Thr)
c.8071G>A (p.Ala2691Thr)
n.10207G>A
 dbSNP gnomAD v4
6g.51746789T>ACA450412368PKHD1c.9930A>T (p.Thr3310=)
c.9801A>T (p.Thr3267=)
c.9792A>T (p.Thr3264=)
c.9288A>T (p.Thr3096=)
c.9219A>T (p.Thr3073=)
c.4005A>T (p.Thr1335=)
c.9855A>T (p.Thr3285=)
c.9735A>T (p.Thr3245=)
c.9666A>T (p.Thr3222=)
c.8070A>T (p.Thr2690=)
n.10206A>T
6g.51746789T>CCA450412369PKHD1c.9930A>G (p.Thr3310=)
c.9801A>G (p.Thr3267=)
c.9792A>G (p.Thr3264=)
c.9288A>G (p.Thr3096=)
c.9219A>G (p.Thr3073=)
c.4005A>G (p.Thr1335=)
c.9855A>G (p.Thr3285=)
c.9735A>G (p.Thr3245=)
c.9666A>G (p.Thr3222=)
c.8070A>G (p.Thr2690=)
n.10206A>G
 ClinVar gnomAD v4
6g.51746789T>GCA450412370PKHD1c.9930A>C (p.Thr3310=)
c.9801A>C (p.Thr3267=)
c.9792A>C (p.Thr3264=)
c.9288A>C (p.Thr3096=)
c.9219A>C (p.Thr3073=)
c.4005A>C (p.Thr1335=)
c.9855A>C (p.Thr3285=)
c.9735A>C (p.Thr3245=)
c.9666A>C (p.Thr3222=)
c.8070A>C (p.Thr2690=)
n.10206A>C
6g.51746790G>ACA364419387PKHD1c.9929C>T (p.Thr3310Ile)
c.9800C>T (p.Thr3267Ile)
c.9791C>T (p.Thr3264Ile)
c.9287C>T (p.Thr3096Ile)
c.9218C>T (p.Thr3073Ile)
c.4004C>T (p.Thr1335Ile)
c.9854C>T (p.Thr3285Ile)
c.9734C>T (p.Thr3245Ile)
c.9665C>T (p.Thr3222Ile)
c.8069C>T (p.Thr2690Ile)
n.10205C>T
 dbSNP gnomAD v2 gnomAD v4
6g.51746790G>CCA3851290PKHD1c.9929C>G (p.Thr3310Arg)
c.9800C>G (p.Thr3267Arg)
c.9791C>G (p.Thr3264Arg)
c.9287C>G (p.Thr3096Arg)
c.9218C>G (p.Thr3073Arg)
c.4004C>G (p.Thr1335Arg)
c.9854C>G (p.Thr3285Arg)
c.9734C>G (p.Thr3245Arg)
c.9665C>G (p.Thr3222Arg)
c.8069C>G (p.Thr2690Arg)
n.10205C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51746790G=CA1628500428PKHD1c.9929C= (p.Thr3310=)
c.9800C= (p.Thr3267=)
c.9791C= (p.Thr3264=)
c.9287C= (p.Thr3096=)
c.9218C= (p.Thr3073=)
c.4004C= (p.Thr1335=)
c.9854C= (p.Thr3285=)
c.9734C= (p.Thr3245=)
c.9665C= (p.Thr3222=)
c.8069C= (p.Thr2690=)
n.10205C=
6g.51746790G>TCA364419389PKHD1c.9929C>A (p.Thr3310Lys)
c.9800C>A (p.Thr3267Lys)
c.9791C>A (p.Thr3264Lys)
c.9287C>A (p.Thr3096Lys)
c.9218C>A (p.Thr3073Lys)
c.4004C>A (p.Thr1335Lys)
c.9854C>A (p.Thr3285Lys)
c.9734C>A (p.Thr3245Lys)
c.9665C>A (p.Thr3222Lys)
c.8069C>A (p.Thr2690Lys)
n.10205C>A
6g.51746791T>ACA364419393PKHD1c.9928A>T (p.Thr3310Ser)
c.9799A>T (p.Thr3267Ser)
c.9790A>T (p.Thr3264Ser)
c.9286A>T (p.Thr3096Ser)
c.9217A>T (p.Thr3073Ser)
c.4003A>T (p.Thr1335Ser)
c.9853A>T (p.Thr3285Ser)
c.9733A>T (p.Thr3245Ser)
c.9664A>T (p.Thr3222Ser)
c.8068A>T (p.Thr2690Ser)
n.10204A>T
6g.51746791T>CCA364419395PKHD1c.9928A>G (p.Thr3310Ala)
c.9799A>G (p.Thr3267Ala)
c.9790A>G (p.Thr3264Ala)
c.9286A>G (p.Thr3096Ala)
c.9217A>G (p.Thr3073Ala)
c.4003A>G (p.Thr1335Ala)
c.9853A>G (p.Thr3285Ala)
c.9733A>G (p.Thr3245Ala)
c.9664A>G (p.Thr3222Ala)
c.8068A>G (p.Thr2690Ala)
n.10204A>G
6g.51746791T>GCA364419396PKHD1c.9928A>C (p.Thr3310Pro)
c.9799A>C (p.Thr3267Pro)
c.9790A>C (p.Thr3264Pro)
c.9286A>C (p.Thr3096Pro)
c.9217A>C (p.Thr3073Pro)
c.4003A>C (p.Thr1335Pro)
c.9853A>C (p.Thr3285Pro)
c.9733A>C (p.Thr3245Pro)
c.9664A>C (p.Thr3222Pro)
c.8068A>C (p.Thr2690Pro)
n.10204A>C
6g.51746792T>ACA450412371PKHD1c.9927A>T (p.Ile3309=)
c.9798A>T (p.Ile3266=)
c.9789A>T (p.Ile3263=)
c.9285A>T (p.Ile3095=)
c.9216A>T (p.Ile3072=)
c.*74A>T (n.*74A>T)
c.4002A>T (p.Ile1334=)
c.9852A>T (p.Ile3284=)
c.9732A>T (p.Ile3244=)
c.9663A>T (p.Ile3221=)
c.8067A>T (p.Ile2689=)
n.10203A>T
6g.51746792T>CCA364419399PKHD1c.9927A>G (p.Ile3309Met)
c.9798A>G (p.Ile3266Met)
c.9789A>G (p.Ile3263Met)
c.9285A>G (p.Ile3095Met)
c.9216A>G (p.Ile3072Met)
c.*74A>G (n.*74A>G)
c.4002A>G (p.Ile1334Met)
c.9852A>G (p.Ile3284Met)
c.9732A>G (p.Ile3244Met)
c.9663A>G (p.Ile3221Met)
c.8067A>G (p.Ile2689Met)
n.10203A>G
6g.51746792T>GCA450412372PKHD1c.9927A>C (p.Ile3309=)
c.9798A>C (p.Ile3266=)
c.9789A>C (p.Ile3263=)
c.9285A>C (p.Ile3095=)
c.9216A>C (p.Ile3072=)
c.*74A>C (n.*74A>C)
c.4002A>C (p.Ile1334=)
c.9852A>C (p.Ile3284=)
c.9732A>C (p.Ile3244=)
c.9663A>C (p.Ile3221=)
c.8067A>C (p.Ile2689=)
n.10203A>C
 ClinVar
6g.51746793A>CCA364419401PKHD1c.9926T>G (p.Ile3309Arg)
c.9797T>G (p.Ile3266Arg)
c.9788T>G (p.Ile3263Arg)
c.9284T>G (p.Ile3095Arg)
c.9215T>G (p.Ile3072Arg)
c.*73T>G (n.*73T>G)
c.4001T>G (p.Ile1334Arg)
c.9851T>G (p.Ile3284Arg)
c.9731T>G (p.Ile3244Arg)
c.9662T>G (p.Ile3221Arg)
c.8066T>G (p.Ile2689Arg)
n.10202T>G
6g.51746793A>GCA364419402PKHD1c.9926T>C (p.Ile3309Thr)
c.9797T>C (p.Ile3266Thr)
c.9788T>C (p.Ile3263Thr)
c.9284T>C (p.Ile3095Thr)
c.9215T>C (p.Ile3072Thr)
c.*73T>C (n.*73T>C)
c.4001T>C (p.Ile1334Thr)
c.9851T>C (p.Ile3284Thr)
c.9731T>C (p.Ile3244Thr)
c.9662T>C (p.Ile3221Thr)
c.8066T>C (p.Ile2689Thr)
n.10202T>C
6g.51746793A>TCA364419404PKHD1c.9926T>A (p.Ile3309Lys)
c.9797T>A (p.Ile3266Lys)
c.9788T>A (p.Ile3263Lys)
c.9284T>A (p.Ile3095Lys)
c.9215T>A (p.Ile3072Lys)
c.*73T>A (n.*73T>A)
c.4001T>A (p.Ile1334Lys)
c.9851T>A (p.Ile3284Lys)
c.9731T>A (p.Ile3244Lys)
c.9662T>A (p.Ile3221Lys)
c.8066T>A (p.Ile2689Lys)
n.10202T>A
6g.51746794T>ACA364419407PKHD1c.9925A>T (p.Ile3309Leu)
c.9796A>T (p.Ile3266Leu)
c.9787A>T (p.Ile3263Leu)
c.9283A>T (p.Ile3095Leu)
c.9214A>T (p.Ile3072Leu)
c.*72A>T (n.*72A>T)
c.4000A>T (p.Ile1334Leu)
c.9850A>T (p.Ile3284Leu)
c.9730A>T (p.Ile3244Leu)
c.9661A>T (p.Ile3221Leu)
c.8065A>T (p.Ile2689Leu)
n.10201A>T
6g.51746794T>CCA3851291PKHD1c.9925A>G (p.Ile3309Val)
c.9796A>G (p.Ile3266Val)
c.9787A>G (p.Ile3263Val)
c.9283A>G (p.Ile3095Val)
c.9214A>G (p.Ile3072Val)
c.*72A>G (n.*72A>G)
c.4000A>G (p.Ile1334Val)
c.9850A>G (p.Ile3284Val)
c.9730A>G (p.Ile3244Val)
c.9661A>G (p.Ile3221Val)
c.8065A>G (p.Ile2689Val)
n.10201A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51746794T>GCA364419408PKHD1c.9925A>C (p.Ile3309Leu)
c.9796A>C (p.Ile3266Leu)
c.9787A>C (p.Ile3263Leu)
c.9283A>C (p.Ile3095Leu)
c.9214A>C (p.Ile3072Leu)
c.*72A>C (n.*72A>C)
c.4000A>C (p.Ile1334Leu)
c.9850A>C (p.Ile3284Leu)
c.9730A>C (p.Ile3244Leu)
c.9661A>C (p.Ile3221Leu)
c.8065A>C (p.Ile2689Leu)
n.10201A>C
6g.51746794T=CA1628500431PKHD1c.9925A= (p.Ile3309=)
c.9796A= (p.Ile3266=)
c.9787A= (p.Ile3263=)
c.9283A= (p.Ile3095=)
c.9214A= (p.Ile3072=)
c.*72A= (n.*72A=)
c.4000A= (p.Ile1334=)
c.9850A= (p.Ile3284=)
c.9730A= (p.Ile3244=)
c.9661A= (p.Ile3221=)
c.8065A= (p.Ile2689=)
n.10201A=
6g.51746795T>ACA450412373PKHD1c.9924A>T (p.Pro3308=)
c.9795A>T (p.Pro3265=)
c.9786A>T (p.Pro3262=)
c.9282A>T (p.Pro3094=)
c.9213A>T (p.Pro3071=)
c.*71A>T (n.*71A>T)
c.3999A>T (p.Pro1333=)
c.9849A>T (p.Pro3283=)
c.9729A>T (p.Pro3243=)
c.9660A>T (p.Pro3220=)
c.8064A>T (p.Pro2688=)
n.10200A>T
6g.51746795T>CCA450412374PKHD1c.9924A>G (p.Pro3308=)
c.9795A>G (p.Pro3265=)
c.9786A>G (p.Pro3262=)
c.9282A>G (p.Pro3094=)
c.9213A>G (p.Pro3071=)
c.*71A>G (n.*71A>G)
c.3999A>G (p.Pro1333=)
c.9849A>G (p.Pro3283=)
c.9729A>G (p.Pro3243=)
c.9660A>G (p.Pro3220=)
c.8064A>G (p.Pro2688=)
n.10200A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51746795T>GCA450412375PKHD1c.9924A>C (p.Pro3308=)
c.9795A>C (p.Pro3265=)
c.9786A>C (p.Pro3262=)
c.9282A>C (p.Pro3094=)
c.9213A>C (p.Pro3071=)
c.*71A>C (n.*71A>C)
c.3999A>C (p.Pro1333=)
c.9849A>C (p.Pro3283=)
c.9729A>C (p.Pro3243=)
c.9660A>C (p.Pro3220=)
c.8064A>C (p.Pro2688=)
n.10200A>C
6g.51746795T=CA1628500434PKHD1c.9924A= (p.Pro3308=)
c.9795A= (p.Pro3265=)
c.9786A= (p.Pro3262=)
c.9282A= (p.Pro3094=)
c.9213A= (p.Pro3071=)
c.*71A= (n.*71A=)
c.3999A= (p.Pro1333=)
c.9849A= (p.Pro3283=)
c.9729A= (p.Pro3243=)
c.9660A= (p.Pro3220=)
c.8064A= (p.Pro2688=)
n.10200A=
6g.51746796G>ACA364419414PKHD1c.9923C>T (p.Pro3308Leu)
c.9794C>T (p.Pro3265Leu)
c.9785C>T (p.Pro3262Leu)
c.9281C>T (p.Pro3094Leu)
c.9212C>T (p.Pro3071Leu)
c.*70C>T (n.*70C>T)
c.3998C>T (p.Pro1333Leu)
c.9848C>T (p.Pro3283Leu)
c.9728C>T (p.Pro3243Leu)
c.9659C>T (p.Pro3220Leu)
c.8063C>T (p.Pro2688Leu)
n.10199C>T
6g.51746796G>CCA364419412PKHD1c.9923C>G (p.Pro3308Arg)
c.9794C>G (p.Pro3265Arg)
c.9785C>G (p.Pro3262Arg)
c.9281C>G (p.Pro3094Arg)
c.9212C>G (p.Pro3071Arg)
c.*70C>G (n.*70C>G)
c.3998C>G (p.Pro1333Arg)
c.9848C>G (p.Pro3283Arg)
c.9728C>G (p.Pro3243Arg)
c.9659C>G (p.Pro3220Arg)
c.8063C>G (p.Pro2688Arg)
n.10199C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51746796G=CA1628500441PKHD1c.9923C= (p.Pro3308=)
c.9794C= (p.Pro3265=)
c.9785C= (p.Pro3262=)
c.9281C= (p.Pro3094=)
c.9212C= (p.Pro3071=)
c.*70C= (n.*70C=)
c.3998C= (p.Pro1333=)
c.9848C= (p.Pro3283=)
c.9728C= (p.Pro3243=)
c.9659C= (p.Pro3220=)
c.8063C= (p.Pro2688=)
n.10199C=
6g.51746796G>TCA364419411PKHD1c.9923C>A (p.Pro3308Gln)
c.9794C>A (p.Pro3265Gln)
c.9785C>A (p.Pro3262Gln)
c.9281C>A (p.Pro3094Gln)
c.9212C>A (p.Pro3071Gln)
c.*70C>A (n.*70C>A)
c.3998C>A (p.Pro1333Gln)
c.9848C>A (p.Pro3283Gln)
c.9728C>A (p.Pro3243Gln)
c.9659C>A (p.Pro3220Gln)
c.8063C>A (p.Pro2688Gln)
n.10199C>A
6g.51746797G>ACA364419416PKHD1c.9922C>T (p.Pro3308Ser)
c.9793C>T (p.Pro3265Ser)
c.9784C>T (p.Pro3262Ser)
c.9280C>T (p.Pro3094Ser)
c.9211C>T (p.Pro3071Ser)
c.*69C>T (n.*69C>T)
c.3997C>T (p.Pro1333Ser)
c.9847C>T (p.Pro3283Ser)
c.9727C>T (p.Pro3243Ser)
c.9658C>T (p.Pro3220Ser)
c.8062C>T (p.Pro2688Ser)
n.10198C>T
6g.51746797G>CCA364419420PKHD1c.9922C>G (p.Pro3308Ala)
c.9793C>G (p.Pro3265Ala)
c.9784C>G (p.Pro3262Ala)
c.9280C>G (p.Pro3094Ala)
c.9211C>G (p.Pro3071Ala)
c.*69C>G (n.*69C>G)
c.3997C>G (p.Pro1333Ala)
c.9847C>G (p.Pro3283Ala)
c.9727C>G (p.Pro3243Ala)
c.9658C>G (p.Pro3220Ala)
c.8062C>G (p.Pro2688Ala)
n.10198C>G
6g.51746797G>TCA364419418PKHD1c.9922C>A (p.Pro3308Thr)
c.9793C>A (p.Pro3265Thr)
c.9784C>A (p.Pro3262Thr)
c.9280C>A (p.Pro3094Thr)
c.9211C>A (p.Pro3071Thr)
c.*69C>A (n.*69C>A)
c.3997C>A (p.Pro1333Thr)
c.9847C>A (p.Pro3283Thr)
c.9727C>A (p.Pro3243Thr)
c.9658C>A (p.Pro3220Thr)
c.8062C>A (p.Pro2688Thr)
n.10198C>A
 gnomAD v4
6g.51746798G>ACA450412376PKHD1c.9921C>T (p.His3307=)
c.9792C>T (p.His3264=)
c.9783C>T (p.His3261=)
c.9279C>T (p.His3093=)
c.9210C>T (p.His3070=)
c.*68C>T (n.*68C>T)
c.3996C>T (p.His1332=)
c.9846C>T (p.His3282=)
c.9726C>T (p.His3242=)
c.9657C>T (p.His3219=)
c.8061C>T (p.His2687=)
n.10197C>T
 ClinVar dbSNP
6g.51746798G>CCA364419421PKHD1c.9921C>G (p.His3307Gln)
c.9792C>G (p.His3264Gln)
c.9783C>G (p.His3261Gln)
c.9279C>G (p.His3093Gln)
c.9210C>G (p.His3070Gln)
c.*68C>G (n.*68C>G)
c.3996C>G (p.His1332Gln)
c.9846C>G (p.His3282Gln)
c.9726C>G (p.His3242Gln)
c.9657C>G (p.His3219Gln)
c.8061C>G (p.His2687Gln)
n.10197C>G
6g.51746798G>TCA364419423PKHD1c.9921C>A (p.His3307Gln)
c.9792C>A (p.His3264Gln)
c.9783C>A (p.His3261Gln)
c.9279C>A (p.His3093Gln)
c.9210C>A (p.His3070Gln)
c.*68C>A (n.*68C>A)
c.3996C>A (p.His1332Gln)
c.9846C>A (p.His3282Gln)
c.9726C>A (p.His3242Gln)
c.9657C>A (p.His3219Gln)
c.8061C>A (p.His2687Gln)
n.10197C>A
6g.51746799T>ACA364419426PKHD1c.9920A>T (p.His3307Leu)
c.9791A>T (p.His3264Leu)
c.9782A>T (p.His3261Leu)
c.9278A>T (p.His3093Leu)
c.9209A>T (p.His3070Leu)
c.*67A>T (n.*67A>T)
c.3995A>T (p.His1332Leu)
c.9845A>T (p.His3282Leu)
c.9725A>T (p.His3242Leu)
c.9656A>T (p.His3219Leu)
c.8060A>T (p.His2687Leu)
n.10196A>T
6g.51746799T>CCA364419429PKHD1c.9920A>G (p.His3307Arg)
c.9791A>G (p.His3264Arg)
c.9782A>G (p.His3261Arg)
c.9278A>G (p.His3093Arg)
c.9209A>G (p.His3070Arg)
c.*67A>G (n.*67A>G)
c.3995A>G (p.His1332Arg)
c.9845A>G (p.His3282Arg)
c.9725A>G (p.His3242Arg)
c.9656A>G (p.His3219Arg)
c.8060A>G (p.His2687Arg)
n.10196A>G
6g.51746799T>GCA364419427PKHD1c.9920A>C (p.His3307Pro)
c.9791A>C (p.His3264Pro)
c.9782A>C (p.His3261Pro)
c.9278A>C (p.His3093Pro)
c.9209A>C (p.His3070Pro)
c.*67A>C (n.*67A>C)
c.3995A>C (p.His1332Pro)
c.9845A>C (p.His3282Pro)
c.9725A>C (p.His3242Pro)
c.9656A>C (p.His3219Pro)
c.8060A>C (p.His2687Pro)
n.10196A>C
6g.51746800G>ACA3851292PKHD1c.9919C>T (p.His3307Tyr)
c.9790C>T (p.His3264Tyr)
c.9781C>T (p.His3261Tyr)
c.9277C>T (p.His3093Tyr)
c.9208C>T (p.His3070Tyr)
c.*66C>T (n.*66C>T)
c.3994C>T (p.His1332Tyr)
c.9844C>T (p.His3282Tyr)
c.9724C>T (p.His3242Tyr)
c.9655C>T (p.His3219Tyr)
c.8059C>T (p.His2687Tyr)
n.10195C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51746800G>CCA364419433PKHD1c.9919C>G (p.His3307Asp)
c.9790C>G (p.His3264Asp)
c.9781C>G (p.His3261Asp)
c.9277C>G (p.His3093Asp)
c.9208C>G (p.His3070Asp)
c.*66C>G (n.*66C>G)
c.3994C>G (p.His1332Asp)
c.9844C>G (p.His3282Asp)
c.9724C>G (p.His3242Asp)
c.9655C>G (p.His3219Asp)
c.8059C>G (p.His2687Asp)
n.10195C>G
6g.51746800G=CA1628500445PKHD1c.9919C= (p.His3307=)
c.9790C= (p.His3264=)
c.9781C= (p.His3261=)
c.9277C= (p.His3093=)
c.9208C= (p.His3070=)
c.*66C= (n.*66C=)
c.3994C= (p.His1332=)
c.9844C= (p.His3282=)
c.9724C= (p.His3242=)
c.9655C= (p.His3219=)
c.8059C= (p.His2687=)
n.10195C=
6g.51746800G>TCA364419431PKHD1c.9919C>A (p.His3307Asn)
c.9790C>A (p.His3264Asn)
c.9781C>A (p.His3261Asn)
c.9277C>A (p.His3093Asn)
c.9208C>A (p.His3070Asn)
c.*66C>A (n.*66C>A)
c.3994C>A (p.His1332Asn)
c.9844C>A (p.His3282Asn)
c.9724C>A (p.His3242Asn)
c.9655C>A (p.His3219Asn)
c.8059C>A (p.His2687Asn)
n.10195C>A
6g.51746801C>ACA364419435PKHD1c.9918G>T (p.Met3306Ile)
c.9789G>T (p.Met3263Ile)
c.9780G>T (p.Met3260Ile)
c.9276G>T (p.Met3092Ile)
c.9207G>T (p.Met3069Ile)
c.*65G>T (n.*65G>T)
c.3993G>T (p.Met1331Ile)
c.9843G>T (p.Met3281Ile)
c.9723G>T (p.Met3241Ile)
c.9654G>T (p.Met3218Ile)
c.8058G>T (p.Met2686Ile)
n.10194G>T
6g.51746801C=CA1628500451PKHD1c.9918G= (p.Met3306=)
c.9789G= (p.Met3263=)
c.9780G= (p.Met3260=)
c.9276G= (p.Met3092=)
c.9207G= (p.Met3069=)
c.*65G= (n.*65G=)
c.3993G= (p.Met1331=)
c.9843G= (p.Met3281=)
c.9723G= (p.Met3241=)
c.9654G= (p.Met3218=)
c.8058G= (p.Met2686=)
n.10194G=
6g.51746801C>GCA364419436PKHD1c.9918G>C (p.Met3306Ile)
c.9789G>C (p.Met3263Ile)
c.9780G>C (p.Met3260Ile)
c.9276G>C (p.Met3092Ile)
c.9207G>C (p.Met3069Ile)
c.*65G>C (n.*65G>C)
c.3993G>C (p.Met1331Ile)
c.9843G>C (p.Met3281Ile)
c.9723G>C (p.Met3241Ile)
c.9654G>C (p.Met3218Ile)
c.8058G>C (p.Met2686Ile)
n.10194G>C
6g.51746801C>TCA364419438PKHD1c.9918G>A (p.Met3306Ile)
c.9789G>A (p.Met3263Ile)
c.9780G>A (p.Met3260Ile)
c.9276G>A (p.Met3092Ile)
c.9207G>A (p.Met3069Ile)
c.*65G>A (n.*65G>A)
c.3993G>A (p.Met1331Ile)
c.9843G>A (p.Met3281Ile)
c.9723G>A (p.Met3241Ile)
c.9654G>A (p.Met3218Ile)
c.8058G>A (p.Met2686Ile)
n.10194G>A
 dbSNP gnomAD v4
6g.51746802A=CA1628500454PKHD1c.9917T= (p.Met3306=)
c.9788T= (p.Met3263=)
c.9779T= (p.Met3260=)
c.9275T= (p.Met3092=)
c.9206T= (p.Met3069=)
c.*64T= (n.*64T=)
c.3992T= (p.Met1331=)
c.9842T= (p.Met3281=)
c.9722T= (p.Met3241=)
c.9653T= (p.Met3218=)
c.8057T= (p.Met2686=)
n.10193T=
6g.51746802A>CCA364419440PKHD1c.9917T>G (p.Met3306Arg)
c.9788T>G (p.Met3263Arg)
c.9779T>G (p.Met3260Arg)
c.9275T>G (p.Met3092Arg)
c.9206T>G (p.Met3069Arg)
c.*64T>G (n.*64T>G)
c.3992T>G (p.Met1331Arg)
c.9842T>G (p.Met3281Arg)
c.9722T>G (p.Met3241Arg)
c.9653T>G (p.Met3218Arg)
c.8057T>G (p.Met2686Arg)
n.10193T>G
6g.51746802A>GCA364419442PKHD1c.9917T>C (p.Met3306Thr)
c.9788T>C (p.Met3263Thr)
c.9779T>C (p.Met3260Thr)
c.9275T>C (p.Met3092Thr)
c.9206T>C (p.Met3069Thr)
c.*64T>C (n.*64T>C)
c.3992T>C (p.Met1331Thr)
c.9842T>C (p.Met3281Thr)
c.9722T>C (p.Met3241Thr)
c.9653T>C (p.Met3218Thr)
c.8057T>C (p.Met2686Thr)
n.10193T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51746802A>TCA364419444PKHD1c.9917T>A (p.Met3306Lys)
c.9788T>A (p.Met3263Lys)
c.9779T>A (p.Met3260Lys)
c.9275T>A (p.Met3092Lys)
c.9206T>A (p.Met3069Lys)
c.*64T>A (n.*64T>A)
c.3992T>A (p.Met1331Lys)
c.9842T>A (p.Met3281Lys)
c.9722T>A (p.Met3241Lys)
c.9653T>A (p.Met3218Lys)
c.8057T>A (p.Met2686Lys)
n.10193T>A
6g.51746803T>ACA364419446PKHD1c.9916A>T (p.Met3306Leu)
c.9787A>T (p.Met3263Leu)
c.9778A>T (p.Met3260Leu)
c.9274A>T (p.Met3092Leu)
c.9205A>T (p.Met3069Leu)
c.*63A>T (n.*63A>T)
c.3991A>T (p.Met1331Leu)
c.9841A>T (p.Met3281Leu)
c.9721A>T (p.Met3241Leu)
c.9652A>T (p.Met3218Leu)
c.8056A>T (p.Met2686Leu)
n.10192A>T
6g.51746803T>CCA364419448PKHD1c.9916A>G (p.Met3306Val)
c.9787A>G (p.Met3263Val)
c.9778A>G (p.Met3260Val)
c.9274A>G (p.Met3092Val)
c.9205A>G (p.Met3069Val)
c.*63A>G (n.*63A>G)
c.3991A>G (p.Met1331Val)
c.9841A>G (p.Met3281Val)
c.9721A>G (p.Met3241Val)
c.9652A>G (p.Met3218Val)
c.8056A>G (p.Met2686Val)
n.10192A>G
 gnomAD v4
6g.51746803T>GCA364419450PKHD1c.9916A>C (p.Met3306Leu)
c.9787A>C (p.Met3263Leu)
c.9778A>C (p.Met3260Leu)
c.9274A>C (p.Met3092Leu)
c.9205A>C (p.Met3069Leu)
c.*63A>C (n.*63A>C)
c.3991A>C (p.Met1331Leu)
c.9841A>C (p.Met3281Leu)
c.9721A>C (p.Met3241Leu)
c.9652A>C (p.Met3218Leu)
c.8056A>C (p.Met2686Leu)
n.10192A>C
6g.51746804A>CCA364419451PKHD1c.9915T>G (p.Ile3305Met)
c.9786T>G (p.Ile3262Met)
c.9777T>G (p.Ile3259Met)
c.9273T>G (p.Ile3091Met)
c.9204T>G (p.Ile3068Met)
c.*62T>G (n.*62T>G)
c.3990T>G (p.Ile1330Met)
c.9840T>G (p.Ile3280Met)
c.9720T>G (p.Ile3240Met)
c.9651T>G (p.Ile3217Met)
c.8055T>G (p.Ile2685Met)
n.10191T>G
6g.51746804A>GCA450412377PKHD1c.9915T>C (p.Ile3305=)
c.9786T>C (p.Ile3262=)
c.9777T>C (p.Ile3259=)
c.9273T>C (p.Ile3091=)
c.9204T>C (p.Ile3068=)
c.*62T>C (n.*62T>C)
c.3990T>C (p.Ile1330=)
c.9840T>C (p.Ile3280=)
c.9720T>C (p.Ile3240=)
c.9651T>C (p.Ile3217=)
c.8055T>C (p.Ile2685=)
n.10191T>C
6g.51746804A>TCA450412378PKHD1c.9915T>A (p.Ile3305=)
c.9786T>A (p.Ile3262=)
c.9777T>A (p.Ile3259=)
c.9273T>A (p.Ile3091=)
c.9204T>A (p.Ile3068=)
c.*62T>A (n.*62T>A)
c.3990T>A (p.Ile1330=)
c.9840T>A (p.Ile3280=)
c.9720T>A (p.Ile3240=)
c.9651T>A (p.Ile3217=)
c.8055T>A (p.Ile2685=)
n.10191T>A
 gnomAD v4
6g.51746805A=CA1628500459PKHD1c.9914T= (p.Ile3305=)
c.9785T= (p.Ile3262=)
c.9776T= (p.Ile3259=)
c.9272T= (p.Ile3091=)
c.9203T= (p.Ile3068=)
c.*61T= (n.*61T=)
c.3989T= (p.Ile1330=)
c.9839T= (p.Ile3280=)
c.9719T= (p.Ile3240=)
c.9650T= (p.Ile3217=)
c.8054T= (p.Ile2685=)
n.10190T=
6g.51746805A>CCA364419456PKHD1c.9914T>G (p.Ile3305Ser)
c.9785T>G (p.Ile3262Ser)
c.9776T>G (p.Ile3259Ser)
c.9272T>G (p.Ile3091Ser)
c.9203T>G (p.Ile3068Ser)
c.*61T>G (n.*61T>G)
c.3989T>G (p.Ile1330Ser)
c.9839T>G (p.Ile3280Ser)
c.9719T>G (p.Ile3240Ser)
c.9650T>G (p.Ile3217Ser)
c.8054T>G (p.Ile2685Ser)
n.10190T>G
6g.51746805A>GCA364419455PKHD1c.9914T>C (p.Ile3305Thr)
c.9785T>C (p.Ile3262Thr)
c.9776T>C (p.Ile3259Thr)
c.9272T>C (p.Ile3091Thr)
c.9203T>C (p.Ile3068Thr)
c.*61T>C (n.*61T>C)
c.3989T>C (p.Ile1330Thr)
c.9839T>C (p.Ile3280Thr)
c.9719T>C (p.Ile3240Thr)
c.9650T>C (p.Ile3217Thr)
c.8054T>C (p.Ile2685Thr)
n.10190T>C
6g.51746805A>TCA364419453PKHD1c.9914T>A (p.Ile3305Asn)
c.9785T>A (p.Ile3262Asn)
c.9776T>A (p.Ile3259Asn)
c.9272T>A (p.Ile3091Asn)
c.9203T>A (p.Ile3068Asn)
c.*61T>A (n.*61T>A)
c.3989T>A (p.Ile1330Asn)
c.9839T>A (p.Ile3280Asn)
c.9719T>A (p.Ile3240Asn)
c.9650T>A (p.Ile3217Asn)
c.8054T>A (p.Ile2685Asn)
n.10190T>A
6g.51746806T>ACA364419459PKHD1c.9913A>T (p.Ile3305Phe)
c.9784A>T (p.Ile3262Phe)
c.9775A>T (p.Ile3259Phe)
c.9271A>T (p.Ile3091Phe)
c.9202A>T (p.Ile3068Phe)
c.*60A>T (n.*60A>T)
c.3988A>T (p.Ile1330Phe)
c.9838A>T (p.Ile3280Phe)
c.9718A>T (p.Ile3240Phe)
c.9649A>T (p.Ile3217Phe)
c.8053A>T (p.Ile2685Phe)
n.10189A>T
6g.51746806T>CCA3851293PKHD1c.9913A>G (p.Ile3305Val)
c.9784A>G (p.Ile3262Val)
c.9775A>G (p.Ile3259Val)
c.9271A>G (p.Ile3091Val)
c.9202A>G (p.Ile3068Val)
c.*60A>G (n.*60A>G)
c.3988A>G (p.Ile1330Val)
c.9838A>G (p.Ile3280Val)
c.9718A>G (p.Ile3240Val)
c.9649A>G (p.Ile3217Val)
c.8053A>G (p.Ile2685Val)
n.10189A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51746806T>GCA364419461PKHD1c.9913A>C (p.Ile3305Leu)
c.9784A>C (p.Ile3262Leu)
c.9775A>C (p.Ile3259Leu)
c.9271A>C (p.Ile3091Leu)
c.9202A>C (p.Ile3068Leu)
c.*60A>C (n.*60A>C)
c.3988A>C (p.Ile1330Leu)
c.9838A>C (p.Ile3280Leu)
c.9718A>C (p.Ile3240Leu)
c.9649A>C (p.Ile3217Leu)
c.8053A>C (p.Ile2685Leu)
n.10189A>C
6g.51746806T=CA1628500471PKHD1c.9913A= (p.Ile3305=)
c.9784A= (p.Ile3262=)
c.9775A= (p.Ile3259=)
c.9271A= (p.Ile3091=)
c.9202A= (p.Ile3068=)
c.*60A= (n.*60A=)
c.3988A= (p.Ile1330=)
c.9838A= (p.Ile3280=)
c.9718A= (p.Ile3240=)
c.9649A= (p.Ile3217=)
c.8053A= (p.Ile2685=)
n.10189A=
6g.51746807dupCA1139659309PKHD1c.9913dup (p.Ile3305AsnfsTer18)
c.9784dup (p.Ile3262AsnfsTer18)
c.9775dup (p.Ile3259AsnfsTer18)
c.9271dup (p.Ile3091AsnfsTer18)
c.9202dup (p.Ile3068AsnfsTer18)
c.*60dup (n.*60dup)
c.3988dup (p.Ile1330AsnfsTer18)
c.9838dup (p.Ile3280AsnfsTer18)
c.9718dup (p.Ile3240AsnfsTer18)
c.9649dup (p.Ile3217AsnfsTer18)
c.8053dup (p.Ile2685AsnfsTer18)
n.10189dup
 ClinVar dbSNP
6g.51746807T>ACA450412379PKHD1c.9912A>T (p.Gly3304=)
c.9783A>T (p.Gly3261=)
c.9774A>T (p.Gly3258=)
c.9270A>T (p.Gly3090=)
c.9201A>T (p.Gly3067=)
c.*59A>T (n.*59A>T)
c.3987A>T (p.Gly1329=)
c.9837A>T (p.Gly3279=)
c.9717A>T (p.Gly3239=)
c.9648A>T (p.Gly3216=)
c.8052A>T (p.Gly2684=)
n.10188A>T
6g.51746807T>CCA450412380PKHD1c.9912A>G (p.Gly3304=)
c.9783A>G (p.Gly3261=)
c.9774A>G (p.Gly3258=)
c.9270A>G (p.Gly3090=)
c.9201A>G (p.Gly3067=)
c.*59A>G (n.*59A>G)
c.3987A>G (p.Gly1329=)
c.9837A>G (p.Gly3279=)
c.9717A>G (p.Gly3239=)
c.9648A>G (p.Gly3216=)
c.8052A>G (p.Gly2684=)
n.10188A>G
6g.51746807T>GCA450412381PKHD1c.9912A>C (p.Gly3304=)
c.9783A>C (p.Gly3261=)
c.9774A>C (p.Gly3258=)
c.9270A>C (p.Gly3090=)
c.9201A>C (p.Gly3067=)
c.*59A>C (n.*59A>C)
c.3987A>C (p.Gly1329=)
c.9837A>C (p.Gly3279=)
c.9717A>C (p.Gly3239=)
c.9648A>C (p.Gly3216=)
c.8052A>C (p.Gly2684=)
n.10188A>C
6g.51746808C>ACA364419464PKHD1c.9911G>T (p.Gly3304Val)
c.9782G>T (p.Gly3261Val)
c.9773G>T (p.Gly3258Val)
c.9269G>T (p.Gly3090Val)
c.9200G>T (p.Gly3067Val)
c.*58G>T (n.*58G>T)
c.3986G>T (p.Gly1329Val)
c.9836G>T (p.Gly3279Val)
c.9716G>T (p.Gly3239Val)
c.9647G>T (p.Gly3216Val)
c.8051G>T (p.Gly2684Val)
n.10187G>T
 gnomAD v4
6g.51746808C>GCA364419466PKHD1c.9911G>C (p.Gly3304Ala)
c.9782G>C (p.Gly3261Ala)
c.9773G>C (p.Gly3258Ala)
c.9269G>C (p.Gly3090Ala)
c.9200G>C (p.Gly3067Ala)
c.*58G>C (n.*58G>C)
c.3986G>C (p.Gly1329Ala)
c.9836G>C (p.Gly3279Ala)
c.9716G>C (p.Gly3239Ala)
c.9647G>C (p.Gly3216Ala)
c.8051G>C (p.Gly2684Ala)
n.10187G>C
6g.51746808C>TCA364419468PKHD1c.9911G>A (p.Gly3304Glu)
c.9782G>A (p.Gly3261Glu)
c.9773G>A (p.Gly3258Glu)
c.9269G>A (p.Gly3090Glu)
c.9200G>A (p.Gly3067Glu)
c.*58G>A (n.*58G>A)
c.3986G>A (p.Gly1329Glu)
c.9836G>A (p.Gly3279Glu)
c.9716G>A (p.Gly3239Glu)
c.9647G>A (p.Gly3216Glu)
c.8051G>A (p.Gly2684Glu)
n.10187G>A
 gnomAD v4 COSMIC
6g.51746809C>ACA364419469PKHD1c.9910G>T (p.Gly3304Ter)
c.9781G>T (p.Gly3261Ter)
c.9772G>T (p.Gly3258Ter)
c.9268G>T (p.Gly3090Ter)
c.9199G>T (p.Gly3067Ter)
c.*57G>T (n.*57G>T)
c.3985G>T (p.Gly1329Ter)
c.9835G>T (p.Gly3279Ter)
c.9715G>T (p.Gly3239Ter)
c.9646G>T (p.Gly3216Ter)
c.8050G>T (p.Gly2684Ter)
n.10186G>T
6g.51746809C>GCA364419471PKHD1c.9910G>C (p.Gly3304Arg)
c.9781G>C (p.Gly3261Arg)
c.9772G>C (p.Gly3258Arg)
c.9268G>C (p.Gly3090Arg)
c.9199G>C (p.Gly3067Arg)
c.*57G>C (n.*57G>C)
c.3985G>C (p.Gly1329Arg)
c.9835G>C (p.Gly3279Arg)
c.9715G>C (p.Gly3239Arg)
c.9646G>C (p.Gly3216Arg)
c.8050G>C (p.Gly2684Arg)
n.10186G>C
6g.51746809C>TCA364419473PKHD1c.9910G>A (p.Gly3304Arg)
c.9781G>A (p.Gly3261Arg)
c.9772G>A (p.Gly3258Arg)
c.9268G>A (p.Gly3090Arg)
c.9199G>A (p.Gly3067Arg)
c.*57G>A (n.*57G>A)
c.3985G>A (p.Gly1329Arg)
c.9835G>A (p.Gly3279Arg)
c.9715G>A (p.Gly3239Arg)
c.9646G>A (p.Gly3216Arg)
c.8050G>A (p.Gly2684Arg)
n.10186G>A
 gnomAD v4
6g.51746810A=CA1628500479PKHD1c.9909T= (p.Ser3303=)
c.9780T= (p.Ser3260=)
c.9771T= (p.Ser3257=)
c.9267T= (p.Ser3089=)
c.9198T= (p.Ser3066=)
c.*56T= (n.*56T=)
c.3984T= (p.Ser1328=)
c.9834T= (p.Ser3278=)
c.9714T= (p.Ser3238=)
c.9645T= (p.Ser3215=)
c.8049T= (p.Ser2683=)
n.10185T=
6g.51746810A>CCA364419475PKHD1c.9909T>G (p.Ser3303Arg)
c.9780T>G (p.Ser3260Arg)
c.9771T>G (p.Ser3257Arg)
c.9267T>G (p.Ser3089Arg)
c.9198T>G (p.Ser3066Arg)
c.*56T>G (n.*56T>G)
c.3984T>G (p.Ser1328Arg)
c.9834T>G (p.Ser3278Arg)
c.9714T>G (p.Ser3238Arg)
c.9645T>G (p.Ser3215Arg)
c.8049T>G (p.Ser2683Arg)
n.10185T>G
 dbSNP gnomAD v4
6g.51746810A>GCA450412382PKHD1c.9909T>C (p.Ser3303=)
c.9780T>C (p.Ser3260=)
c.9771T>C (p.Ser3257=)
c.9267T>C (p.Ser3089=)
c.9198T>C (p.Ser3066=)
c.*56T>C (n.*56T>C)
c.3984T>C (p.Ser1328=)
c.9834T>C (p.Ser3278=)
c.9714T>C (p.Ser3238=)
c.9645T>C (p.Ser3215=)
c.8049T>C (p.Ser2683=)
n.10185T>C
6g.51746810A>TCA364419476PKHD1c.9909T>A (p.Ser3303Arg)
c.9780T>A (p.Ser3260Arg)
c.9771T>A (p.Ser3257Arg)
c.9267T>A (p.Ser3089Arg)
c.9198T>A (p.Ser3066Arg)
c.*56T>A (n.*56T>A)
c.3984T>A (p.Ser1328Arg)
c.9834T>A (p.Ser3278Arg)
c.9714T>A (p.Ser3238Arg)
c.9645T>A (p.Ser3215Arg)
c.8049T>A (p.Ser2683Arg)
n.10185T>A
6g.51746811C>ACA364419480PKHD1c.9908G>T (p.Ser3303Ile)
c.9779G>T (p.Ser3260Ile)
c.9770G>T (p.Ser3257Ile)
c.9266G>T (p.Ser3089Ile)
c.9197G>T (p.Ser3066Ile)
c.*55G>T (n.*55G>T)
c.3983G>T (p.Ser1328Ile)
c.9833G>T (p.Ser3278Ile)
c.9713G>T (p.Ser3238Ile)
c.9644G>T (p.Ser3215Ile)
c.8048G>T (p.Ser2683Ile)
n.10184G>T
6g.51746811C>GCA364419482PKHD1c.9908G>C (p.Ser3303Thr)
c.9779G>C (p.Ser3260Thr)
c.9770G>C (p.Ser3257Thr)
c.9266G>C (p.Ser3089Thr)
c.9197G>C (p.Ser3066Thr)
c.*55G>C (n.*55G>C)
c.3983G>C (p.Ser1328Thr)
c.9833G>C (p.Ser3278Thr)
c.9713G>C (p.Ser3238Thr)
c.9644G>C (p.Ser3215Thr)
c.8048G>C (p.Ser2683Thr)
n.10184G>C
6g.51746811C>TCA364419478PKHD1c.9908G>A (p.Ser3303Asn)
c.9779G>A (p.Ser3260Asn)
c.9770G>A (p.Ser3257Asn)
c.9266G>A (p.Ser3089Asn)
c.9197G>A (p.Ser3066Asn)
c.*55G>A (n.*55G>A)
c.3983G>A (p.Ser1328Asn)
c.9833G>A (p.Ser3278Asn)
c.9713G>A (p.Ser3238Asn)
c.9644G>A (p.Ser3215Asn)
c.8048G>A (p.Ser2683Asn)
n.10184G>A
6g.51746811_51746812delinsCTCA1628500482PKHD1c.9907_9908delinsAG (p.Ser3303=)
c.9778_9779delinsAG (p.Ser3260=)
c.9769_9770delinsAG (p.Ser3257=)
c.9265_9266delinsAG (p.Ser3089=)
c.9196_9197delinsAG (p.Ser3066=)
c.*54_*55delinsAG (n.*54_*55delinsAG)
c.3982_3983delinsAG (p.Ser1328=)
c.9832_9833delinsAG (p.Ser3278=)
c.9712_9713delinsAG (p.Ser3238=)
c.9643_9644delinsAG (p.Ser3215=)
c.8047_8048delinsAG (p.Ser2683=)
n.10183_10184delinsAG
6g.51746812delCA1088960594PKHD1c.9907del (p.Ser3303ValfsTer7)
c.9778del (p.Ser3260ValfsTer7)
c.9769del (p.Ser3257ValfsTer7)
c.9265del (p.Ser3089ValfsTer7)
c.9196del (p.Ser3066ValfsTer7)
c.*54del (n.*54del)
c.3982del (p.Ser1328ValfsTer7)
c.9832del (p.Ser3278ValfsTer7)
c.9712del (p.Ser3238ValfsTer7)
c.9643del (p.Ser3215ValfsTer7)
c.8047del (p.Ser2683ValfsTer7)
n.10183del
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51746812T>ACA364419484PKHD1c.9907A>T (p.Ser3303Cys)
c.9778A>T (p.Ser3260Cys)
c.9769A>T (p.Ser3257Cys)
c.9265A>T (p.Ser3089Cys)
c.9196A>T (p.Ser3066Cys)
c.*54A>T (n.*54A>T)
c.3982A>T (p.Ser1328Cys)
c.9832A>T (p.Ser3278Cys)
c.9712A>T (p.Ser3238Cys)
c.9643A>T (p.Ser3215Cys)
c.8047A>T (p.Ser2683Cys)
n.10183A>T
 dbSNP gnomAD v2 gnomAD v4
6g.51746812T>CCA364419486PKHD1c.9907A>G (p.Ser3303Gly)
c.9778A>G (p.Ser3260Gly)
c.9769A>G (p.Ser3257Gly)
c.9265A>G (p.Ser3089Gly)
c.9196A>G (p.Ser3066Gly)
c.*54A>G (n.*54A>G)
c.3982A>G (p.Ser1328Gly)
c.9832A>G (p.Ser3278Gly)
c.9712A>G (p.Ser3238Gly)
c.9643A>G (p.Ser3215Gly)
c.8047A>G (p.Ser2683Gly)
n.10183A>G
6g.51746812T>GCA364419487PKHD1c.9907A>C (p.Ser3303Arg)
c.9778A>C (p.Ser3260Arg)
c.9769A>C (p.Ser3257Arg)
c.9265A>C (p.Ser3089Arg)
c.9196A>C (p.Ser3066Arg)
c.*54A>C (n.*54A>C)
c.3982A>C (p.Ser1328Arg)
c.9832A>C (p.Ser3278Arg)
c.9712A>C (p.Ser3238Arg)
c.9643A>C (p.Ser3215Arg)
c.8047A>C (p.Ser2683Arg)
n.10183A>C
 dbSNP
6g.51746812T=CA1628500486PKHD1c.9907A= (p.Ser3303=)
c.9778A= (p.Ser3260=)
c.9769A= (p.Ser3257=)
c.9265A= (p.Ser3089=)
c.9196A= (p.Ser3066=)
c.*54A= (n.*54A=)
c.3982A= (p.Ser1328=)
c.9832A= (p.Ser3278=)
c.9712A= (p.Ser3238=)
c.9643A= (p.Ser3215=)
c.8047A= (p.Ser2683=)
n.10183A=
6g.51746813G>ACA450412383PKHD1c.9906C>T (p.Asn3302=)
c.9777C>T (p.Asn3259=)
c.9768C>T (p.Asn3256=)
c.9264C>T (p.Asn3088=)
c.9195C>T (p.Asn3065=)
c.*53C>T (n.*53C>T)
c.3981C>T (p.Asn1327=)
c.9831C>T (p.Asn3277=)
c.9711C>T (p.Asn3237=)
c.9642C>T (p.Asn3214=)
c.8046C>T (p.Asn2682=)
n.10182C>T
6g.51746813G>CCA364419490PKHD1c.9906C>G (p.Asn3302Lys)
c.9777C>G (p.Asn3259Lys)
c.9768C>G (p.Asn3256Lys)
c.9264C>G (p.Asn3088Lys)
c.9195C>G (p.Asn3065Lys)
c.*53C>G (n.*53C>G)
c.3981C>G (p.Asn1327Lys)
c.9831C>G (p.Asn3277Lys)
c.9711C>G (p.Asn3237Lys)
c.9642C>G (p.Asn3214Lys)
c.8046C>G (p.Asn2682Lys)
n.10182C>G
 dbSNP
6g.51746813G=CA1628500491PKHD1c.9906C= (p.Asn3302=)
c.9777C= (p.Asn3259=)
c.9768C= (p.Asn3256=)
c.9264C= (p.Asn3088=)
c.9195C= (p.Asn3065=)
c.*53C= (n.*53C=)
c.3981C= (p.Asn1327=)
c.9831C= (p.Asn3277=)
c.9711C= (p.Asn3237=)
c.9642C= (p.Asn3214=)
c.8046C= (p.Asn2682=)
n.10182C=
6g.51746813G>TCA364419492PKHD1c.9906C>A (p.Asn3302Lys)
c.9777C>A (p.Asn3259Lys)
c.9768C>A (p.Asn3256Lys)
c.9264C>A (p.Asn3088Lys)
c.9195C>A (p.Asn3065Lys)
c.*53C>A (n.*53C>A)
c.3981C>A (p.Asn1327Lys)
c.9831C>A (p.Asn3277Lys)
c.9711C>A (p.Asn3237Lys)
c.9642C>A (p.Asn3214Lys)
c.8046C>A (p.Asn2682Lys)
n.10182C>A
 dbSNP gnomAD v2 gnomAD v4
6g.51746814T>ACA364419497PKHD1c.9905A>T (p.Asn3302Ile)
c.9776A>T (p.Asn3259Ile)
c.9767A>T (p.Asn3256Ile)
c.9263A>T (p.Asn3088Ile)
c.9194A>T (p.Asn3065Ile)
c.*52A>T (n.*52A>T)
c.3980A>T (p.Asn1327Ile)
c.9830A>T (p.Asn3277Ile)
c.9710A>T (p.Asn3237Ile)
c.9641A>T (p.Asn3214Ile)
c.8045A>T (p.Asn2682Ile)
n.10181A>T
6g.51746814T>CCA3851294PKHD1c.9905A>G (p.Asn3302Ser)
c.9776A>G (p.Asn3259Ser)
c.9767A>G (p.Asn3256Ser)
c.9263A>G (p.Asn3088Ser)
c.9194A>G (p.Asn3065Ser)
c.*52A>G (n.*52A>G)
c.3980A>G (p.Asn1327Ser)
c.9830A>G (p.Asn3277Ser)
c.9710A>G (p.Asn3237Ser)
c.9641A>G (p.Asn3214Ser)
c.8045A>G (p.Asn2682Ser)
n.10181A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51746814T>GCA364419495PKHD1c.9905A>C (p.Asn3302Thr)
c.9776A>C (p.Asn3259Thr)
c.9767A>C (p.Asn3256Thr)
c.9263A>C (p.Asn3088Thr)
c.9194A>C (p.Asn3065Thr)
c.*52A>C (n.*52A>C)
c.3980A>C (p.Asn1327Thr)
c.9830A>C (p.Asn3277Thr)
c.9710A>C (p.Asn3237Thr)
c.9641A>C (p.Asn3214Thr)
c.8045A>C (p.Asn2682Thr)
n.10181A>C
6g.51746814T=CA1628500496PKHD1c.9905A= (p.Asn3302=)
c.9776A= (p.Asn3259=)
c.9767A= (p.Asn3256=)
c.9263A= (p.Asn3088=)
c.9194A= (p.Asn3065=)
c.*52A= (n.*52A=)
c.3980A= (p.Asn1327=)
c.9830A= (p.Asn3277=)
c.9710A= (p.Asn3237=)
c.9641A= (p.Asn3214=)
c.8045A= (p.Asn2682=)
n.10181A=
6g.51746815T>ACA364419499PKHD1c.9904A>T (p.Asn3302Tyr)
c.9775A>T (p.Asn3259Tyr)
c.9766A>T (p.Asn3256Tyr)
c.9262A>T (p.Asn3088Tyr)
c.9193A>T (p.Asn3065Tyr)
c.*51A>T (n.*51A>T)
c.3979A>T (p.Asn1327Tyr)
c.9829A>T (p.Asn3277Tyr)
c.9709A>T (p.Asn3237Tyr)
c.9640A>T (p.Asn3214Tyr)
c.8044A>T (p.Asn2682Tyr)
n.10180A>T
6g.51746815T>CCA364419501PKHD1c.9904A>G (p.Asn3302Asp)
c.9775A>G (p.Asn3259Asp)
c.9766A>G (p.Asn3256Asp)
c.9262A>G (p.Asn3088Asp)
c.9193A>G (p.Asn3065Asp)
c.*51A>G (n.*51A>G)
c.3979A>G (p.Asn1327Asp)
c.9829A>G (p.Asn3277Asp)
c.9709A>G (p.Asn3237Asp)
c.9640A>G (p.Asn3214Asp)
c.8044A>G (p.Asn2682Asp)
n.10180A>G
 gnomAD v4
6g.51746815T>GCA364419502PKHD1c.9904A>C (p.Asn3302His)
c.9775A>C (p.Asn3259His)
c.9766A>C (p.Asn3256His)
c.9262A>C (p.Asn3088His)
c.9193A>C (p.Asn3065His)
c.*51A>C (n.*51A>C)
c.3979A>C (p.Asn1327His)
c.9829A>C (p.Asn3277His)
c.9709A>C (p.Asn3237His)
c.9640A>C (p.Asn3214His)
c.8044A>C (p.Asn2682His)
n.10180A>C
6g.51746816C>ACA364419504PKHD1c.9903G>T (p.Glu3301Asp)
c.9774G>T (p.Glu3258Asp)
c.9765G>T (p.Glu3255Asp)
c.9261G>T (p.Glu3087Asp)
c.9192G>T (p.Glu3064Asp)
c.*50G>T (n.*50G>T)
c.3978G>T (p.Glu1326Asp)
c.9828G>T (p.Glu3276Asp)
c.9708G>T (p.Glu3236Asp)
c.9639G>T (p.Glu3213Asp)
c.8043G>T (p.Glu2681Asp)
n.10179G>T
6g.51746816C>GCA364419505PKHD1c.9903G>C (p.Glu3301Asp)
c.9774G>C (p.Glu3258Asp)
c.9765G>C (p.Glu3255Asp)
c.9261G>C (p.Glu3087Asp)
c.9192G>C (p.Glu3064Asp)
c.*50G>C (n.*50G>C)
c.3978G>C (p.Glu1326Asp)
c.9828G>C (p.Glu3276Asp)
c.9708G>C (p.Glu3236Asp)
c.9639G>C (p.Glu3213Asp)
c.8043G>C (p.Glu2681Asp)
n.10179G>C
6g.51746816C>TCA450412384PKHD1c.9903G>A (p.Glu3301=)
c.9774G>A (p.Glu3258=)
c.9765G>A (p.Glu3255=)
c.9261G>A (p.Glu3087=)
c.9192G>A (p.Glu3064=)
c.*50G>A (n.*50G>A)
c.3978G>A (p.Glu1326=)
c.9828G>A (p.Glu3276=)
c.9708G>A (p.Glu3236=)
c.9639G>A (p.Glu3213=)
c.8043G>A (p.Glu2681=)
n.10179G>A
6g.51746817T>ACA364419507PKHD1c.9902A>T (p.Glu3301Val)
c.9773A>T (p.Glu3258Val)
c.9764A>T (p.Glu3255Val)
c.9260A>T (p.Glu3087Val)
c.9191A>T (p.Glu3064Val)
c.*49A>T (n.*49A>T)
c.3977A>T (p.Glu1326Val)
c.9827A>T (p.Glu3276Val)
c.9707A>T (p.Glu3236Val)
c.9638A>T (p.Glu3213Val)
c.8042A>T (p.Glu2681Val)
n.10178A>T
6g.51746817T>CCA364419510PKHD1c.9902A>G (p.Glu3301Gly)
c.9773A>G (p.Glu3258Gly)
c.9764A>G (p.Glu3255Gly)
c.9260A>G (p.Glu3087Gly)
c.9191A>G (p.Glu3064Gly)
c.*49A>G (n.*49A>G)
c.3977A>G (p.Glu1326Gly)
c.9827A>G (p.Glu3276Gly)
c.9707A>G (p.Glu3236Gly)
c.9638A>G (p.Glu3213Gly)
c.8042A>G (p.Glu2681Gly)
n.10178A>G
 gnomAD v4
6g.51746817T>GCA364419509PKHD1c.9902A>C (p.Glu3301Ala)
c.9773A>C (p.Glu3258Ala)
c.9764A>C (p.Glu3255Ala)
c.9260A>C (p.Glu3087Ala)
c.9191A>C (p.Glu3064Ala)
c.*49A>C (n.*49A>C)
c.3977A>C (p.Glu1326Ala)
c.9827A>C (p.Glu3276Ala)
c.9707A>C (p.Glu3236Ala)
c.9638A>C (p.Glu3213Ala)
c.8042A>C (p.Glu2681Ala)
n.10178A>C
6g.51746818C>ACA3851295PKHD1c.9901G>T (p.Glu3301Ter)
c.9772G>T (p.Glu3258Ter)
c.9763G>T (p.Glu3255Ter)
c.9259G>T (p.Glu3087Ter)
c.9190G>T (p.Glu3064Ter)
c.*48G>T (n.*48G>T)
c.3976G>T (p.Glu1326Ter)
c.9826G>T (p.Glu3276Ter)
c.9706G>T (p.Glu3236Ter)
c.9637G>T (p.Glu3213Ter)
c.8041G>T (p.Glu2681Ter)
n.10177G>T
 ClinVar dbSNP ExAC gnomAD v2
6g.51746818C=CA1628500502PKHD1c.9901G= (p.Glu3301=)
c.9772G= (p.Glu3258=)
c.9763G= (p.Glu3255=)
c.9259G= (p.Glu3087=)
c.9190G= (p.Glu3064=)
c.*48G= (n.*48G=)
c.3976G= (p.Glu1326=)
c.9826G= (p.Glu3276=)
c.9706G= (p.Glu3236=)
c.9637G= (p.Glu3213=)
c.8041G= (p.Glu2681=)
n.10177G=
6g.51746818C>GCA364419514PKHD1c.9901G>C (p.Glu3301Gln)
c.9772G>C (p.Glu3258Gln)
c.9763G>C (p.Glu3255Gln)
c.9259G>C (p.Glu3087Gln)
c.9190G>C (p.Glu3064Gln)
c.*48G>C (n.*48G>C)
c.3976G>C (p.Glu1326Gln)
c.9826G>C (p.Glu3276Gln)
c.9706G>C (p.Glu3236Gln)
c.9637G>C (p.Glu3213Gln)
c.8041G>C (p.Glu2681Gln)
n.10177G>C
 dbSNP
6g.51746818C>TCA364419516PKHD1c.9901G>A (p.Glu3301Lys)
c.9772G>A (p.Glu3258Lys)
c.9763G>A (p.Glu3255Lys)
c.9259G>A (p.Glu3087Lys)
c.9190G>A (p.Glu3064Lys)
c.*48G>A (n.*48G>A)
c.3976G>A (p.Glu1326Lys)
c.9826G>A (p.Glu3276Lys)
c.9706G>A (p.Glu3236Lys)
c.9637G>A (p.Glu3213Lys)
c.8041G>A (p.Glu2681Lys)
n.10177G>A
6g.51746819T>ACA450412385PKHD1c.9900A>T (p.Ala3300=)
c.9771A>T (p.Ala3257=)
c.9762A>T (p.Ala3254=)
c.9258A>T (p.Ala3086=)
c.9189A>T (p.Ala3063=)
c.*47A>T (n.*47A>T)
c.3975A>T (p.Ala1325=)
c.9825A>T (p.Ala3275=)
c.9705A>T (p.Ala3235=)
c.9636A>T (p.Ala3212=)
c.8040A>T (p.Ala2680=)
n.10176A>T
6g.51746819T>CCA450412386PKHD1c.9900A>G (p.Ala3300=)
c.9771A>G (p.Ala3257=)
c.9762A>G (p.Ala3254=)
c.9258A>G (p.Ala3086=)
c.9189A>G (p.Ala3063=)
c.*47A>G (n.*47A>G)
c.3975A>G (p.Ala1325=)
c.9825A>G (p.Ala3275=)
c.9705A>G (p.Ala3235=)
c.9636A>G (p.Ala3212=)
c.8040A>G (p.Ala2680=)
n.10176A>G
 dbSNP gnomAD v2 gnomAD v4
6g.51746819T>GCA450412387PKHD1c.9900A>C (p.Ala3300=)
c.9771A>C (p.Ala3257=)
c.9762A>C (p.Ala3254=)
c.9258A>C (p.Ala3086=)
c.9189A>C (p.Ala3063=)
c.*47A>C (n.*47A>C)
c.3975A>C (p.Ala1325=)
c.9825A>C (p.Ala3275=)
c.9705A>C (p.Ala3235=)
c.9636A>C (p.Ala3212=)
c.8040A>C (p.Ala2680=)
n.10176A>C
 gnomAD v4
6g.51746819T=CA1628500507PKHD1c.9900A= (p.Ala3300=)
c.9771A= (p.Ala3257=)
c.9762A= (p.Ala3254=)
c.9258A= (p.Ala3086=)
c.9189A= (p.Ala3063=)
c.*47A= (n.*47A=)
c.3975A= (p.Ala1325=)
c.9825A= (p.Ala3275=)
c.9705A= (p.Ala3235=)
c.9636A= (p.Ala3212=)
c.8040A= (p.Ala2680=)
n.10176A=
6g.51746820G>ACA364419518PKHD1c.9899C>T (p.Ala3300Val)
c.9770C>T (p.Ala3257Val)
c.9761C>T (p.Ala3254Val)
c.9257C>T (p.Ala3086Val)
c.9188C>T (p.Ala3063Val)
c.*46C>T (n.*46C>T)
c.3974C>T (p.Ala1325Val)
c.9824C>T (p.Ala3275Val)
c.9704C>T (p.Ala3235Val)
c.9635C>T (p.Ala3212Val)
c.8039C>T (p.Ala2680Val)
n.10175C>T
6g.51746820G>CCA364419520PKHD1c.9899C>G (p.Ala3300Gly)
c.9770C>G (p.Ala3257Gly)
c.9761C>G (p.Ala3254Gly)
c.9257C>G (p.Ala3086Gly)
c.9188C>G (p.Ala3063Gly)
c.*46C>G (n.*46C>G)
c.3974C>G (p.Ala1325Gly)
c.9824C>G (p.Ala3275Gly)
c.9704C>G (p.Ala3235Gly)
c.9635C>G (p.Ala3212Gly)
c.8039C>G (p.Ala2680Gly)
n.10175C>G
 dbSNP
6g.51746820G=CA1628500509PKHD1c.9899C= (p.Ala3300=)
c.9770C= (p.Ala3257=)
c.9761C= (p.Ala3254=)
c.9257C= (p.Ala3086=)
c.9188C= (p.Ala3063=)
c.*46C= (n.*46C=)
c.3974C= (p.Ala1325=)
c.9824C= (p.Ala3275=)
c.9704C= (p.Ala3235=)
c.9635C= (p.Ala3212=)
c.8039C= (p.Ala2680=)
n.10175C=
6g.51746820G>TCA364419521PKHD1c.9899C>A (p.Ala3300Glu)
c.9770C>A (p.Ala3257Glu)
c.9761C>A (p.Ala3254Glu)
c.9257C>A (p.Ala3086Glu)
c.9188C>A (p.Ala3063Glu)
c.*46C>A (n.*46C>A)
c.3974C>A (p.Ala1325Glu)
c.9824C>A (p.Ala3275Glu)
c.9704C>A (p.Ala3235Glu)
c.9635C>A (p.Ala3212Glu)
c.8039C>A (p.Ala2680Glu)
n.10175C>A
6g.51746821C>ACA364419524PKHD1c.9898G>T (p.Ala3300Ser)
c.9769G>T (p.Ala3257Ser)
c.9760G>T (p.Ala3254Ser)
c.9256G>T (p.Ala3086Ser)
c.9187G>T (p.Ala3063Ser)
c.*45G>T (n.*45G>T)
c.3973G>T (p.Ala1325Ser)
c.9823G>T (p.Ala3275Ser)
c.9703G>T (p.Ala3235Ser)
c.9634G>T (p.Ala3212Ser)
c.8038G>T (p.Ala2680Ser)
n.10174G>T
6g.51746821C>GCA364419525PKHD1c.9898G>C (p.Ala3300Pro)
c.9769G>C (p.Ala3257Pro)
c.9760G>C (p.Ala3254Pro)
c.9256G>C (p.Ala3086Pro)
c.9187G>C (p.Ala3063Pro)
c.*45G>C (n.*45G>C)
c.3973G>C (p.Ala1325Pro)
c.9823G>C (p.Ala3275Pro)
c.9703G>C (p.Ala3235Pro)
c.9634G>C (p.Ala3212Pro)
c.8038G>C (p.Ala2680Pro)
n.10174G>C
6g.51746821C>TCA364419527PKHD1c.9898G>A (p.Ala3300Thr)
c.9769G>A (p.Ala3257Thr)
c.9760G>A (p.Ala3254Thr)
c.9256G>A (p.Ala3086Thr)
c.9187G>A (p.Ala3063Thr)
c.*45G>A (n.*45G>A)
c.3973G>A (p.Ala1325Thr)
c.9823G>A (p.Ala3275Thr)
c.9703G>A (p.Ala3235Thr)
c.9634G>A (p.Ala3212Thr)
c.8038G>A (p.Ala2680Thr)
n.10174G>A
6g.51746822A>CCA364419529PKHD1c.9897T>G (p.Asn3299Lys)
c.9768T>G (p.Asn3256Lys)
c.9759T>G (p.Asn3253Lys)
c.9255T>G (p.Asn3085Lys)
c.9186T>G (p.Asn3062Lys)
c.*44T>G (n.*44T>G)
c.3972T>G (p.Asn1324Lys)
c.9822T>G (p.Asn3274Lys)
c.9702T>G (p.Asn3234Lys)
c.9633T>G (p.Asn3211Lys)
c.8037T>G (p.Asn2679Lys)
n.10173T>G
6g.51746822A>GCA450412388PKHD1c.9897T>C (p.Asn3299=)
c.9768T>C (p.Asn3256=)
c.9759T>C (p.Asn3253=)
c.9255T>C (p.Asn3085=)
c.9186T>C (p.Asn3062=)
c.*44T>C (n.*44T>C)
c.3972T>C (p.Asn1324=)
c.9822T>C (p.Asn3274=)
c.9702T>C (p.Asn3234=)
c.9633T>C (p.Asn3211=)
c.8037T>C (p.Asn2679=)
n.10173T>C
6g.51746822A>TCA364419530PKHD1c.9897T>A (p.Asn3299Lys)
c.9768T>A (p.Asn3256Lys)
c.9759T>A (p.Asn3253Lys)
c.9255T>A (p.Asn3085Lys)
c.9186T>A (p.Asn3062Lys)
c.*44T>A (n.*44T>A)
c.3972T>A (p.Asn1324Lys)
c.9822T>A (p.Asn3274Lys)
c.9702T>A (p.Asn3234Lys)
c.9633T>A (p.Asn3211Lys)
c.8037T>A (p.Asn2679Lys)
n.10173T>A
6g.51746823T>ACA3851296PKHD1c.9896A>T (p.Asn3299Ile)
c.9767A>T (p.Asn3256Ile)
c.9758A>T (p.Asn3253Ile)
c.9254A>T (p.Asn3085Ile)
c.9185A>T (p.Asn3062Ile)
c.*43A>T (n.*43A>T)
c.3971A>T (p.Asn1324Ile)
c.9821A>T (p.Asn3274Ile)
c.9701A>T (p.Asn3234Ile)
c.9632A>T (p.Asn3211Ile)
c.8036A>T (p.Asn2679Ile)
n.10172A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51746823T>CCA364419533PKHD1c.9896A>G (p.Asn3299Ser)
c.9767A>G (p.Asn3256Ser)
c.9758A>G (p.Asn3253Ser)
c.9254A>G (p.Asn3085Ser)
c.9185A>G (p.Asn3062Ser)
c.*43A>G (n.*43A>G)
c.3971A>G (p.Asn1324Ser)
c.9821A>G (p.Asn3274Ser)
c.9701A>G (p.Asn3234Ser)
c.9632A>G (p.Asn3211Ser)
c.8036A>G (p.Asn2679Ser)
n.10172A>G
6g.51746823T>GCA364419532PKHD1c.9896A>C (p.Asn3299Thr)
c.9767A>C (p.Asn3256Thr)
c.9758A>C (p.Asn3253Thr)
c.9254A>C (p.Asn3085Thr)
c.9185A>C (p.Asn3062Thr)
c.*43A>C (n.*43A>C)
c.3971A>C (p.Asn1324Thr)
c.9821A>C (p.Asn3274Thr)
c.9701A>C (p.Asn3234Thr)
c.9632A>C (p.Asn3211Thr)
c.8036A>C (p.Asn2679Thr)
n.10172A>C
6g.51746823T=CA1628500513PKHD1c.9896A= (p.Asn3299=)
c.9767A= (p.Asn3256=)
c.9758A= (p.Asn3253=)
c.9254A= (p.Asn3085=)
c.9185A= (p.Asn3062=)
c.*43A= (n.*43A=)
c.3971A= (p.Asn1324=)
c.9821A= (p.Asn3274=)
c.9701A= (p.Asn3234=)
c.9632A= (p.Asn3211=)
c.8036A= (p.Asn2679=)
n.10172A=
6g.51746825dupCA2679078436PKHD1c.9896dup (p.Asn3299LysfsTer24)
c.9767dup (p.Asn3256LysfsTer24)
c.9758dup (p.Asn3253LysfsTer24)
c.9254dup (p.Asn3085LysfsTer24)
c.9185dup (p.Asn3062LysfsTer24)
c.*43dup (n.*43dup)
c.3971dup (p.Asn1324LysfsTer24)
c.9821dup (p.Asn3274LysfsTer24)
c.9701dup (p.Asn3234LysfsTer24)
c.9632dup (p.Asn3211LysfsTer24)
c.8036dup (p.Asn2679LysfsTer24)
n.10172dup
 gnomAD v4
6g.51746824T>ACA364419537PKHD1c.9895A>T (p.Asn3299Tyr)
c.9766A>T (p.Asn3256Tyr)
c.9757A>T (p.Asn3253Tyr)
c.9253A>T (p.Asn3085Tyr)
c.9184A>T (p.Asn3062Tyr)
c.*42A>T (n.*42A>T)
c.3970A>T (p.Asn1324Tyr)
c.9820A>T (p.Asn3274Tyr)
c.9700A>T (p.Asn3234Tyr)
c.9631A>T (p.Asn3211Tyr)
c.8035A>T (p.Asn2679Tyr)
n.10171A>T
6g.51746824T>CCA364419538PKHD1c.9895A>G (p.Asn3299Asp)
c.9766A>G (p.Asn3256Asp)
c.9757A>G (p.Asn3253Asp)
c.9253A>G (p.Asn3085Asp)
c.9184A>G (p.Asn3062Asp)
c.*42A>G (n.*42A>G)
c.3970A>G (p.Asn1324Asp)
c.9820A>G (p.Asn3274Asp)
c.9700A>G (p.Asn3234Asp)
c.9631A>G (p.Asn3211Asp)
c.8035A>G (p.Asn2679Asp)
n.10171A>G
 dbSNP gnomAD v2 gnomAD v4
6g.51746824T>GCA364419540PKHD1c.9895A>C (p.Asn3299His)
c.9766A>C (p.Asn3256His)
c.9757A>C (p.Asn3253His)
c.9253A>C (p.Asn3085His)
c.9184A>C (p.Asn3062His)
c.*42A>C (n.*42A>C)
c.3970A>C (p.Asn1324His)
c.9820A>C (p.Asn3274His)
c.9700A>C (p.Asn3234His)
c.9631A>C (p.Asn3211His)
c.8035A>C (p.Asn2679His)
n.10171A>C
6g.51746824T=CA1628500517PKHD1c.9895A= (p.Asn3299=)
c.9766A= (p.Asn3256=)
c.9757A= (p.Asn3253=)
c.9253A= (p.Asn3085=)
c.9184A= (p.Asn3062=)
c.*42A= (n.*42A=)
c.3970A= (p.Asn1324=)
c.9820A= (p.Asn3274=)
c.9700A= (p.Asn3234=)
c.9631A= (p.Asn3211=)
c.8035A= (p.Asn2679=)
n.10171A=
6g.51746824_51746825insCCA2679078437PKHD1c.9894_9895insG (p.Asn3299GlufsTer24)
c.9765_9766insG (p.Asn3256GlufsTer24)
c.9756_9757insG (p.Asn3253GlufsTer24)
c.9252_9253insG (p.Asn3085GlufsTer24)
c.9183_9184insG (p.Asn3062GlufsTer24)
c.*41_*42insG (n.*41_*42insG)
c.3969_3970insG (p.Asn1324GlufsTer24)
c.9819_9820insG (p.Asn3274GlufsTer24)
c.9699_9700insG (p.Asn3234GlufsTer24)
c.9630_9631insG (p.Asn3211GlufsTer24)
c.8034_8035insG (p.Asn2679GlufsTer24)
n.10170_10171insG
 gnomAD v4
6g.51746825T>ACA450412389PKHD1c.9894A>T (p.Pro3298=)
c.9765A>T (p.Pro3255=)
c.9756A>T (p.Pro3252=)
c.9252A>T (p.Pro3084=)
c.9183A>T (p.Pro3061=)
c.*41A>T (n.*41A>T)
c.3969A>T (p.Pro1323=)
c.9819A>T (p.Pro3273=)
c.9699A>T (p.Pro3233=)
c.9630A>T (p.Pro3210=)
c.8034A>T (p.Pro2678=)
n.10170A>T
6g.51746825T>CCA450412390PKHD1c.9894A>G (p.Pro3298=)
c.9765A>G (p.Pro3255=)
c.9756A>G (p.Pro3252=)
c.9252A>G (p.Pro3084=)
c.9183A>G (p.Pro3061=)
c.*41A>G (n.*41A>G)
c.3969A>G (p.Pro1323=)
c.9819A>G (p.Pro3273=)
c.9699A>G (p.Pro3233=)
c.9630A>G (p.Pro3210=)
c.8034A>G (p.Pro2678=)
n.10170A>G
6g.51746825T>GCA450412391PKHD1c.9894A>C (p.Pro3298=)
c.9765A>C (p.Pro3255=)
c.9756A>C (p.Pro3252=)
c.9252A>C (p.Pro3084=)
c.9183A>C (p.Pro3061=)
c.*41A>C (n.*41A>C)
c.3969A>C (p.Pro1323=)
c.9819A>C (p.Pro3273=)
c.9699A>C (p.Pro3233=)
c.9630A>C (p.Pro3210=)
c.8034A>C (p.Pro2678=)
n.10170A>C
 ClinVar
6g.51746825_51746826insACCA2679078438PKHD1c.9893_9894insGT (p.Asn3299Ter)
c.9764_9765insGT (p.Asn3256Ter)
c.9755_9756insGT (p.Asn3253Ter)
c.9251_9252insGT (p.Asn3085Ter)
c.9182_9183insGT (p.Asn3062Ter)
c.*40_*41insGT (n.*40_*41insGT)
c.3968_3969insGT (p.Asn1324Ter)
c.9818_9819insGT (p.Asn3274Ter)
c.9698_9699insGT (p.Asn3234Ter)
c.9629_9630insGT (p.Asn3211Ter)
c.8033_8034insGT (p.Asn2679Ter)
n.10169_10170insGT
 gnomAD v4
6g.51746826G>ACA364419543PKHD1c.9893C>T (p.Pro3298Leu)
c.9764C>T (p.Pro3255Leu)
c.9755C>T (p.Pro3252Leu)
c.9251C>T (p.Pro3084Leu)
c.9182C>T (p.Pro3061Leu)
c.*40C>T (n.*40C>T)
c.3968C>T (p.Pro1323Leu)
c.9818C>T (p.Pro3273Leu)
c.9698C>T (p.Pro3233Leu)
c.9629C>T (p.Pro3210Leu)
c.8033C>T (p.Pro2678Leu)
n.10169C>T
6g.51746826G>CCA364419544PKHD1c.9893C>G (p.Pro3298Arg)
c.9764C>G (p.Pro3255Arg)
c.9755C>G (p.Pro3252Arg)
c.9251C>G (p.Pro3084Arg)
c.9182C>G (p.Pro3061Arg)
c.*40C>G (n.*40C>G)
c.3968C>G (p.Pro1323Arg)
c.9818C>G (p.Pro3273Arg)
c.9698C>G (p.Pro3233Arg)
c.9629C>G (p.Pro3210Arg)
c.8033C>G (p.Pro2678Arg)
n.10169C>G
 gnomAD v4
6g.51746826G>TCA364419546PKHD1c.9893C>A (p.Pro3298Gln)
c.9764C>A (p.Pro3255Gln)
c.9755C>A (p.Pro3252Gln)
c.9251C>A (p.Pro3084Gln)
c.9182C>A (p.Pro3061Gln)
c.*40C>A (n.*40C>A)
c.3968C>A (p.Pro1323Gln)
c.9818C>A (p.Pro3273Gln)
c.9698C>A (p.Pro3233Gln)
c.9629C>A (p.Pro3210Gln)
c.8033C>A (p.Pro2678Gln)
n.10169C>A
 gnomAD v4
6g.51746827G>ACA364419552PKHD1c.9892C>T (p.Pro3298Ser)
c.9763C>T (p.Pro3255Ser)
c.9754C>T (p.Pro3252Ser)
c.9250C>T (p.Pro3084Ser)
c.9181C>T (p.Pro3061Ser)
c.*39C>T (n.*39C>T)
c.3967C>T (p.Pro1323Ser)
c.9817C>T (p.Pro3273Ser)
c.9697C>T (p.Pro3233Ser)
c.9628C>T (p.Pro3210Ser)
c.8032C>T (p.Pro2678Ser)
n.10168C>T
6g.51746827G>CCA364419551PKHD1c.9892C>G (p.Pro3298Ala)
c.9763C>G (p.Pro3255Ala)
c.9754C>G (p.Pro3252Ala)
c.9250C>G (p.Pro3084Ala)
c.9181C>G (p.Pro3061Ala)
c.*39C>G (n.*39C>G)
c.3967C>G (p.Pro1323Ala)
c.9817C>G (p.Pro3273Ala)
c.9697C>G (p.Pro3233Ala)
c.9628C>G (p.Pro3210Ala)
c.8032C>G (p.Pro2678Ala)
n.10168C>G
6g.51746827G>TCA364419549PKHD1c.9892C>A (p.Pro3298Thr)
c.9763C>A (p.Pro3255Thr)
c.9754C>A (p.Pro3252Thr)
c.9250C>A (p.Pro3084Thr)
c.9181C>A (p.Pro3061Thr)
c.*39C>A (n.*39C>A)
c.3967C>A (p.Pro1323Thr)
c.9817C>A (p.Pro3273Thr)
c.9697C>A (p.Pro3233Thr)
c.9628C>A (p.Pro3210Thr)
c.8032C>A (p.Pro2678Thr)
n.10168C>A
6g.51746828T>ACA450412392PKHD1c.9891A>T (p.Leu3297=)
c.9762A>T (p.Leu3254=)
c.9753A>T (p.Leu3251=)
c.9249A>T (p.Leu3083=)
c.9180A>T (p.Leu3060=)
c.*38A>T (n.*38A>T)
c.3966A>T (p.Leu1322=)
c.9816A>T (p.Leu3272=)
c.9696A>T (p.Leu3232=)
c.9627A>T (p.Leu3209=)
c.8031A>T (p.Leu2677=)
n.10167A>T
6g.51746828T>CCA450412393PKHD1c.9891A>G (p.Leu3297=)
c.9762A>G (p.Leu3254=)
c.9753A>G (p.Leu3251=)
c.9249A>G (p.Leu3083=)
c.9180A>G (p.Leu3060=)
c.*38A>G (n.*38A>G)
c.3966A>G (p.Leu1322=)
c.9816A>G (p.Leu3272=)
c.9696A>G (p.Leu3232=)
c.9627A>G (p.Leu3209=)
c.8031A>G (p.Leu2677=)
n.10167A>G
6g.51746828T>GCA450412394PKHD1c.9891A>C (p.Leu3297=)
c.9762A>C (p.Leu3254=)
c.9753A>C (p.Leu3251=)
c.9249A>C (p.Leu3083=)
c.9180A>C (p.Leu3060=)
c.*38A>C (n.*38A>C)
c.3966A>C (p.Leu1322=)
c.9816A>C (p.Leu3272=)
c.9696A>C (p.Leu3232=)
c.9627A>C (p.Leu3209=)
c.8031A>C (p.Leu2677=)
n.10167A>C
 dbSNP gnomAD v3 gnomAD v4
6g.51746828T=CA1628500521PKHD1c.9891A= (p.Leu3297=)
c.9762A= (p.Leu3254=)
c.9753A= (p.Leu3251=)
c.9249A= (p.Leu3083=)
c.9180A= (p.Leu3060=)
c.*38A= (n.*38A=)
c.3966A= (p.Leu1322=)
c.9816A= (p.Leu3272=)
c.9696A= (p.Leu3232=)
c.9627A= (p.Leu3209=)
c.8031A= (p.Leu2677=)
n.10167A=
6g.51746829A>CCA364419553PKHD1c.9890T>G (p.Leu3297Arg)
c.9761T>G (p.Leu3254Arg)
c.9752T>G (p.Leu3251Arg)
c.9248T>G (p.Leu3083Arg)
c.9179T>G (p.Leu3060Arg)
c.*37T>G (n.*37T>G)
c.3965T>G (p.Leu1322Arg)
c.9815T>G (p.Leu3272Arg)
c.9695T>G (p.Leu3232Arg)
c.9626T>G (p.Leu3209Arg)
c.8030T>G (p.Leu2677Arg)
n.10166T>G
6g.51746829A>GCA364419555PKHD1c.9890T>C (p.Leu3297Pro)
c.9761T>C (p.Leu3254Pro)
c.9752T>C (p.Leu3251Pro)
c.9248T>C (p.Leu3083Pro)
c.9179T>C (p.Leu3060Pro)
c.*37T>C (n.*37T>C)
c.3965T>C (p.Leu1322Pro)
c.9815T>C (p.Leu3272Pro)
c.9695T>C (p.Leu3232Pro)
c.9626T>C (p.Leu3209Pro)
c.8030T>C (p.Leu2677Pro)
n.10166T>C
6g.51746829A>TCA364419557PKHD1c.9890T>A (p.Leu3297Gln)
c.9761T>A (p.Leu3254Gln)
c.9752T>A (p.Leu3251Gln)
c.9248T>A (p.Leu3083Gln)
c.9179T>A (p.Leu3060Gln)
c.*37T>A (n.*37T>A)
c.3965T>A (p.Leu1322Gln)
c.9815T>A (p.Leu3272Gln)
c.9695T>A (p.Leu3232Gln)
c.9626T>A (p.Leu3209Gln)
c.8030T>A (p.Leu2677Gln)
n.10166T>A
6g.51746830G>ACA450412395PKHD1c.9889C>T (p.Leu3297=)
c.9760C>T (p.Leu3254=)
c.9751C>T (p.Leu3251=)
c.9247C>T (p.Leu3083=)
c.9178C>T (p.Leu3060=)
c.*36C>T (n.*36C>T)
c.3964C>T (p.Leu1322=)
c.9814C>T (p.Leu3272=)
c.9694C>T (p.Leu3232=)
c.9625C>T (p.Leu3209=)
c.8029C>T (p.Leu2677=)
n.10165C>T
6g.51746830G>CCA364419559PKHD1c.9889C>G (p.Leu3297Val)
c.9760C>G (p.Leu3254Val)
c.9751C>G (p.Leu3251Val)
c.9247C>G (p.Leu3083Val)
c.9178C>G (p.Leu3060Val)
c.*36C>G (n.*36C>G)
c.3964C>G (p.Leu1322Val)
c.9814C>G (p.Leu3272Val)
c.9694C>G (p.Leu3232Val)
c.9625C>G (p.Leu3209Val)
c.8029C>G (p.Leu2677Val)
n.10165C>G
6g.51746830G>TCA364419560PKHD1c.9889C>A (p.Leu3297Ile)
c.9760C>A (p.Leu3254Ile)
c.9751C>A (p.Leu3251Ile)
c.9247C>A (p.Leu3083Ile)
c.9178C>A (p.Leu3060Ile)
c.*36C>A (n.*36C>A)
c.3964C>A (p.Leu1322Ile)
c.9814C>A (p.Leu3272Ile)
c.9694C>A (p.Leu3232Ile)
c.9625C>A (p.Leu3209Ile)
c.8029C>A (p.Leu2677Ile)
n.10165C>A
6g.51746831A>CCA364419563PKHD1c.9888T>G (p.Ile3296Met)
c.9759T>G (p.Ile3253Met)
c.9750T>G (p.Ile3250Met)
c.9246T>G (p.Ile3082Met)
c.9177T>G (p.Ile3059Met)
c.*35T>G (n.*35T>G)
c.3963T>G (p.Ile1321Met)
c.9813T>G (p.Ile3271Met)
c.9693T>G (p.Ile3231Met)
c.9624T>G (p.Ile3208Met)
c.8028T>G (p.Ile2676Met)
n.10164T>G
6g.51746831A>GCA450412397PKHD1c.9888T>C (p.Ile3296=)
c.9759T>C (p.Ile3253=)
c.9750T>C (p.Ile3250=)
c.9246T>C (p.Ile3082=)
c.9177T>C (p.Ile3059=)
c.*35T>C (n.*35T>C)
c.3963T>C (p.Ile1321=)
c.9813T>C (p.Ile3271=)
c.9693T>C (p.Ile3231=)
c.9624T>C (p.Ile3208=)
c.8028T>C (p.Ile2676=)
n.10164T>C
6g.51746831A>TCA450412396PKHD1c.9888T>A (p.Ile3296=)
c.9759T>A (p.Ile3253=)
c.9750T>A (p.Ile3250=)
c.9246T>A (p.Ile3082=)
c.9177T>A (p.Ile3059=)
c.*35T>A (n.*35T>A)
c.3963T>A (p.Ile1321=)
c.9813T>A (p.Ile3271=)
c.9693T>A (p.Ile3231=)
c.9624T>A (p.Ile3208=)
c.8028T>A (p.Ile2676=)
n.10164T>A
6g.51746832A>CCA364419565PKHD1c.9887T>G (p.Ile3296Ser)
c.9758T>G (p.Ile3253Ser)
c.9749T>G (p.Ile3250Ser)
c.9245T>G (p.Ile3082Ser)
c.9176T>G (p.Ile3059Ser)
c.*34T>G (n.*34T>G)
c.3962T>G (p.Ile1321Ser)
c.9812T>G (p.Ile3271Ser)
c.9692T>G (p.Ile3231Ser)
c.9623T>G (p.Ile3208Ser)
c.8027T>G (p.Ile2676Ser)
n.10163T>G
6g.51746832A>GCA364419568PKHD1c.9887T>C (p.Ile3296Thr)
c.9758T>C (p.Ile3253Thr)
c.9749T>C (p.Ile3250Thr)
c.9245T>C (p.Ile3082Thr)
c.9176T>C (p.Ile3059Thr)
c.*34T>C (n.*34T>C)
c.3962T>C (p.Ile1321Thr)
c.9812T>C (p.Ile3271Thr)
c.9692T>C (p.Ile3231Thr)
c.9623T>C (p.Ile3208Thr)
c.8027T>C (p.Ile2676Thr)
n.10163T>C
6g.51746832A>TCA364419566PKHD1c.9887T>A (p.Ile3296Asn)
c.9758T>A (p.Ile3253Asn)
c.9749T>A (p.Ile3250Asn)
c.9245T>A (p.Ile3082Asn)
c.9176T>A (p.Ile3059Asn)
c.*34T>A (n.*34T>A)
c.3962T>A (p.Ile1321Asn)
c.9812T>A (p.Ile3271Asn)
c.9692T>A (p.Ile3231Asn)
c.9623T>A (p.Ile3208Asn)
c.8027T>A (p.Ile2676Asn)
n.10163T>A
6g.51746833T>ACA364419571PKHD1c.9886A>T (p.Ile3296Phe)
c.9757A>T (p.Ile3253Phe)
c.9748A>T (p.Ile3250Phe)
c.9244A>T (p.Ile3082Phe)
c.9175A>T (p.Ile3059Phe)
c.*33A>T (n.*33A>T)
c.3961A>T (p.Ile1321Phe)
c.9811A>T (p.Ile3271Phe)
c.9691A>T (p.Ile3231Phe)
c.9622A>T (p.Ile3208Phe)
c.8026A>T (p.Ile2676Phe)
n.10162A>T
6g.51746833T>CCA364419572PKHD1c.9886A>G (p.Ile3296Val)
c.9757A>G (p.Ile3253Val)
c.9748A>G (p.Ile3250Val)
c.9244A>G (p.Ile3082Val)
c.9175A>G (p.Ile3059Val)
c.*33A>G (n.*33A>G)
c.3961A>G (p.Ile1321Val)
c.9811A>G (p.Ile3271Val)
c.9691A>G (p.Ile3231Val)
c.9622A>G (p.Ile3208Val)
c.8026A>G (p.Ile2676Val)
n.10162A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51746833T>GCA364419574PKHD1c.9886A>C (p.Ile3296Leu)
c.9757A>C (p.Ile3253Leu)
c.9748A>C (p.Ile3250Leu)
c.9244A>C (p.Ile3082Leu)
c.9175A>C (p.Ile3059Leu)
c.*33A>C (n.*33A>C)
c.3961A>C (p.Ile1321Leu)
c.9811A>C (p.Ile3271Leu)
c.9691A>C (p.Ile3231Leu)
c.9622A>C (p.Ile3208Leu)
c.8026A>C (p.Ile2676Leu)
n.10162A>C
 gnomAD v4
6g.51746833T=CA1628500524PKHD1c.9886A= (p.Ile3296=)
c.9757A= (p.Ile3253=)
c.9748A= (p.Ile3250=)
c.9244A= (p.Ile3082=)
c.9175A= (p.Ile3059=)
c.*33A= (n.*33A=)
c.3961A= (p.Ile1321=)
c.9811A= (p.Ile3271=)
c.9691A= (p.Ile3231=)
c.9622A= (p.Ile3208=)
c.8026A= (p.Ile2676=)
n.10162A=
6g.51746834G>ACA450412398PKHD1c.9885C>T (p.Cys3295=)
c.9756C>T (p.Cys3252=)
c.9747C>T (p.Cys3249=)
c.9243C>T (p.Cys3081=)
c.9174C>T (p.Cys3058=)
c.*32C>T (n.*32C>T)
c.3960C>T (p.Cys1320=)
c.9810C>T (p.Cys3270=)
c.9690C>T (p.Cys3230=)
c.9621C>T (p.Cys3207=)
c.8025C>T (p.Cys2675=)
n.10161C>T
6g.51746834G>CCA364419576PKHD1c.9885C>G (p.Cys3295Trp)
c.9756C>G (p.Cys3252Trp)
c.9747C>G (p.Cys3249Trp)
c.9243C>G (p.Cys3081Trp)
c.9174C>G (p.Cys3058Trp)
c.*32C>G (n.*32C>G)
c.3960C>G (p.Cys1320Trp)
c.9810C>G (p.Cys3270Trp)
c.9690C>G (p.Cys3230Trp)
c.9621C>G (p.Cys3207Trp)
c.8025C>G (p.Cys2675Trp)
n.10161C>G
6g.51746834G>TCA364419578PKHD1c.9885C>A (p.Cys3295Ter)
c.9756C>A (p.Cys3252Ter)
c.9747C>A (p.Cys3249Ter)
c.9243C>A (p.Cys3081Ter)
c.9174C>A (p.Cys3058Ter)
c.*32C>A (n.*32C>A)
c.3960C>A (p.Cys1320Ter)
c.9810C>A (p.Cys3270Ter)
c.9690C>A (p.Cys3230Ter)
c.9621C>A (p.Cys3207Ter)
c.8025C>A (p.Cys2675Ter)
n.10161C>A
6g.51746835C>ACA364419580PKHD1c.9884G>T (p.Cys3295Phe)
c.9755G>T (p.Cys3252Phe)
c.9746G>T (p.Cys3249Phe)
c.9242G>T (p.Cys3081Phe)
c.9173G>T (p.Cys3058Phe)
c.*31G>T (n.*31G>T)
c.3959G>T (p.Cys1320Phe)
c.9809G>T (p.Cys3270Phe)
c.9689G>T (p.Cys3230Phe)
c.9620G>T (p.Cys3207Phe)
c.8024G>T (p.Cys2675Phe)
n.10160G>T
 dbSNP
6g.51746835C>GCA364419582PKHD1c.9884G>C (p.Cys3295Ser)
c.9755G>C (p.Cys3252Ser)
c.9746G>C (p.Cys3249Ser)
c.9242G>C (p.Cys3081Ser)
c.9173G>C (p.Cys3058Ser)
c.*31G>C (n.*31G>C)
c.3959G>C (p.Cys1320Ser)
c.9809G>C (p.Cys3270Ser)
c.9689G>C (p.Cys3230Ser)
c.9620G>C (p.Cys3207Ser)
c.8024G>C (p.Cys2675Ser)
n.10160G>C
 COSMIC COSMIC
6g.51746835C>TCA364419584PKHD1c.9884G>A (p.Cys3295Tyr)
c.9755G>A (p.Cys3252Tyr)
c.9746G>A (p.Cys3249Tyr)
c.9242G>A (p.Cys3081Tyr)
c.9173G>A (p.Cys3058Tyr)
c.*31G>A (n.*31G>A)
c.3959G>A (p.Cys1320Tyr)
c.9809G>A (p.Cys3270Tyr)
c.9689G>A (p.Cys3230Tyr)
c.9620G>A (p.Cys3207Tyr)
c.8024G>A (p.Cys2675Tyr)
n.10160G>A
 gnomAD v4
6g.51746836A=CA1628500529PKHD1c.9883T= (p.Cys3295=)
c.9754T= (p.Cys3252=)
c.9745T= (p.Cys3249=)
c.9241T= (p.Cys3081=)
c.9172T= (p.Cys3058=)
c.*30T= (n.*30T=)
c.3958T= (p.Cys1320=)
c.9808T= (p.Cys3270=)
c.9688T= (p.Cys3230=)
c.9619T= (p.Cys3207=)
c.8023T= (p.Cys2675=)
n.10159T=
6g.51746836A>CCA364419587PKHD1c.9883T>G (p.Cys3295Gly)
c.9754T>G (p.Cys3252Gly)
c.9745T>G (p.Cys3249Gly)
c.9241T>G (p.Cys3081Gly)
c.9172T>G (p.Cys3058Gly)
c.*30T>G (n.*30T>G)
c.3958T>G (p.Cys1320Gly)
c.9808T>G (p.Cys3270Gly)
c.9688T>G (p.Cys3230Gly)
c.9619T>G (p.Cys3207Gly)
c.8023T>G (p.Cys2675Gly)
n.10159T>G
6g.51746836A>GCA364419588PKHD1c.9883T>C (p.Cys3295Arg)
c.9754T>C (p.Cys3252Arg)
c.9745T>C (p.Cys3249Arg)
c.9241T>C (p.Cys3081Arg)
c.9172T>C (p.Cys3058Arg)
c.*30T>C (n.*30T>C)
c.3958T>C (p.Cys1320Arg)
c.9808T>C (p.Cys3270Arg)
c.9688T>C (p.Cys3230Arg)
c.9619T>C (p.Cys3207Arg)
c.8023T>C (p.Cys2675Arg)
n.10159T>C
 dbSNP gnomAD v3 gnomAD v4
6g.51746836A>TCA364419589PKHD1c.9883T>A (p.Cys3295Ser)
c.9754T>A (p.Cys3252Ser)
c.9745T>A (p.Cys3249Ser)
c.9241T>A (p.Cys3081Ser)
c.9172T>A (p.Cys3058Ser)
c.*30T>A (n.*30T>A)
c.3958T>A (p.Cys1320Ser)
c.9808T>A (p.Cys3270Ser)
c.9688T>A (p.Cys3230Ser)
c.9619T>A (p.Cys3207Ser)
c.8023T>A (p.Cys2675Ser)
n.10159T>A
 COSMIC COSMIC
6g.51746837G>ACA3851297PKHD1c.9882C>T (p.Val3294=)
c.9753C>T (p.Val3251=)
c.9744C>T (p.Val3248=)
c.9240C>T (p.Val3080=)
c.9171C>T (p.Val3057=)
c.*29C>T (n.*29C>T)
c.3957C>T (p.Val1319=)
c.9807C>T (p.Val3269=)
c.9687C>T (p.Val3229=)
c.9618C>T (p.Val3206=)
c.8022C>T (p.Val2674=)
n.10158C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51746837G>CCA450412399PKHD1c.9882C>G (p.Val3294=)
c.9753C>G (p.Val3251=)
c.9744C>G (p.Val3248=)
c.9240C>G (p.Val3080=)
c.9171C>G (p.Val3057=)
c.*29C>G (n.*29C>G)
c.3957C>G (p.Val1319=)
c.9807C>G (p.Val3269=)
c.9687C>G (p.Val3229=)
c.9618C>G (p.Val3206=)
c.8022C>G (p.Val2674=)
n.10158C>G
6g.51746837G=CA1628500534PKHD1c.9882C= (p.Val3294=)
c.9753C= (p.Val3251=)
c.9744C= (p.Val3248=)
c.9240C= (p.Val3080=)
c.9171C= (p.Val3057=)
c.*29C= (n.*29C=)
c.3957C= (p.Val1319=)
c.9807C= (p.Val3269=)
c.9687C= (p.Val3229=)
c.9618C= (p.Val3206=)
c.8022C= (p.Val2674=)
n.10158C=
6g.51746837G>TCA450412400PKHD1c.9882C>A (p.Val3294=)
c.9753C>A (p.Val3251=)
c.9744C>A (p.Val3248=)
c.9240C>A (p.Val3080=)
c.9171C>A (p.Val3057=)
c.*29C>A (n.*29C>A)
c.3957C>A (p.Val1319=)
c.9807C>A (p.Val3269=)
c.9687C>A (p.Val3229=)
c.9618C>A (p.Val3206=)
c.8022C>A (p.Val2674=)
n.10158C>A
6g.51746838A>CCA364419592PKHD1c.9881T>G (p.Val3294Gly)
c.9752T>G (p.Val3251Gly)
c.9743T>G (p.Val3248Gly)
c.9239T>G (p.Val3080Gly)
c.9170T>G (p.Val3057Gly)
c.*28T>G (n.*28T>G)
c.3956T>G (p.Val1319Gly)
c.9806T>G (p.Val3269Gly)
c.9686T>G (p.Val3229Gly)
c.9617T>G (p.Val3206Gly)
c.8021T>G (p.Val2674Gly)
n.10157T>G
6g.51746838A>GCA364419594PKHD1c.9881T>C (p.Val3294Ala)
c.9752T>C (p.Val3251Ala)
c.9743T>C (p.Val3248Ala)
c.9239T>C (p.Val3080Ala)
c.9170T>C (p.Val3057Ala)
c.*28T>C (n.*28T>C)
c.3956T>C (p.Val1319Ala)
c.9806T>C (p.Val3269Ala)
c.9686T>C (p.Val3229Ala)
c.9617T>C (p.Val3206Ala)
c.8021T>C (p.Val2674Ala)
n.10157T>C
6g.51746838A>TCA364419593PKHD1c.9881T>A (p.Val3294Asp)
c.9752T>A (p.Val3251Asp)
c.9743T>A (p.Val3248Asp)
c.9239T>A (p.Val3080Asp)
c.9170T>A (p.Val3057Asp)
c.*28T>A (n.*28T>A)
c.3956T>A (p.Val1319Asp)
c.9806T>A (p.Val3269Asp)
c.9686T>A (p.Val3229Asp)
c.9617T>A (p.Val3206Asp)
c.8021T>A (p.Val2674Asp)
n.10157T>A
6g.51746839C>ACA364419596PKHD1c.9880G>T (p.Val3294Phe)
c.9751G>T (p.Val3251Phe)
c.9742G>T (p.Val3248Phe)
c.9238G>T (p.Val3080Phe)
c.9169G>T (p.Val3057Phe)
c.*27G>T (n.*27G>T)
c.3955G>T (p.Val1319Phe)
c.9805G>T (p.Val3269Phe)
c.9685G>T (p.Val3229Phe)
c.9616G>T (p.Val3206Phe)
c.8020G>T (p.Val2674Phe)
n.10156G>T
6g.51746839C>GCA364419598PKHD1c.9880G>C (p.Val3294Leu)
c.9751G>C (p.Val3251Leu)
c.9742G>C (p.Val3248Leu)
c.9238G>C (p.Val3080Leu)
c.9169G>C (p.Val3057Leu)
c.*27G>C (n.*27G>C)
c.3955G>C (p.Val1319Leu)
c.9805G>C (p.Val3269Leu)
c.9685G>C (p.Val3229Leu)
c.9616G>C (p.Val3206Leu)
c.8020G>C (p.Val2674Leu)
n.10156G>C
6g.51746839C>TCA364419599PKHD1c.9880G>A (p.Val3294Ile)
c.9751G>A (p.Val3251Ile)
c.9742G>A (p.Val3248Ile)
c.9238G>A (p.Val3080Ile)
c.9169G>A (p.Val3057Ile)
c.*27G>A (n.*27G>A)
c.3955G>A (p.Val1319Ile)
c.9805G>A (p.Val3269Ile)
c.9685G>A (p.Val3229Ile)
c.9616G>A (p.Val3206Ile)
c.8020G>A (p.Val2674Ile)
n.10156G>A
6g.51746843_51746851delCA2679078439PKHD1c.9872_9880del (p.Asp3291_Asp3293del)
c.9743_9751del (p.Asp3248_Asp3250del)
c.9734_9742del (p.Asp3245_Asp3247del)
c.9230_9238del (p.Asp3077_Asp3079del)
c.9161_9169del (p.Asp3054_Asp3056del)
c.*19_*27del (n.*19_*27del)
c.3947_3955del (p.Asp1316_Asp1318del)
c.9797_9805del (p.Asp3266_Asp3268del)
c.9677_9685del (p.Asp3226_Asp3228del)
c.9608_9616del (p.Asp3203_Asp3205del)
c.8012_8020del (p.Asp2671_Asp2673del)
n.10148_10156del
 gnomAD v4
6g.51746840A=CA1628500536PKHD1c.9879T= (p.Asp3293=)
c.9750T= (p.Asp3250=)
c.9741T= (p.Asp3247=)
c.9237T= (p.Asp3079=)
c.9168T= (p.Asp3056=)
c.*26T= (n.*26T=)
c.3954T= (p.Asp1318=)
c.9804T= (p.Asp3268=)
c.9684T= (p.Asp3228=)
c.9615T= (p.Asp3205=)
c.8019T= (p.Asp2673=)
n.10155T=
6g.51746840A>CCA364419601PKHD1c.9879T>G (p.Asp3293Glu)
c.9750T>G (p.Asp3250Glu)
c.9741T>G (p.Asp3247Glu)
c.9237T>G (p.Asp3079Glu)
c.9168T>G (p.Asp3056Glu)
c.*26T>G (n.*26T>G)
c.3954T>G (p.Asp1318Glu)
c.9804T>G (p.Asp3268Glu)
c.9684T>G (p.Asp3228Glu)
c.9615T>G (p.Asp3205Glu)
c.8019T>G (p.Asp2673Glu)
n.10155T>G
 dbSNP gnomAD v3 gnomAD v4
6g.51746840A>GCA450412401PKHD1c.9879T>C (p.Asp3293=)
c.9750T>C (p.Asp3250=)
c.9741T>C (p.Asp3247=)
c.9237T>C (p.Asp3079=)
c.9168T>C (p.Asp3056=)
c.*26T>C (n.*26T>C)
c.3954T>C (p.Asp1318=)
c.9804T>C (p.Asp3268=)
c.9684T>C (p.Asp3228=)
c.9615T>C (p.Asp3205=)
c.8019T>C (p.Asp2673=)
n.10155T>C
6g.51746840A>TCA364419602PKHD1c.9879T>A (p.Asp3293Glu)
c.9750T>A (p.Asp3250Glu)
c.9741T>A (p.Asp3247Glu)
c.9237T>A (p.Asp3079Glu)
c.9168T>A (p.Asp3056Glu)
c.*26T>A (n.*26T>A)
c.3954T>A (p.Asp1318Glu)
c.9804T>A (p.Asp3268Glu)
c.9684T>A (p.Asp3228Glu)
c.9615T>A (p.Asp3205Glu)
c.8019T>A (p.Asp2673Glu)
n.10155T>A
6g.51746841T>ACA364419604PKHD1c.9878A>T (p.Asp3293Val)
c.9749A>T (p.Asp3250Val)
c.9740A>T (p.Asp3247Val)
c.9236A>T (p.Asp3079Val)
c.9167A>T (p.Asp3056Val)
c.*25A>T (n.*25A>T)
c.3953A>T (p.Asp1318Val)
c.9803A>T (p.Asp3268Val)
c.9683A>T (p.Asp3228Val)
c.9614A>T (p.Asp3205Val)
c.8018A>T (p.Asp2673Val)
n.10154A>T
6g.51746841T>CCA364419606PKHD1c.9878A>G (p.Asp3293Gly)
c.9749A>G (p.Asp3250Gly)
c.9740A>G (p.Asp3247Gly)
c.9236A>G (p.Asp3079Gly)
c.9167A>G (p.Asp3056Gly)
c.*25A>G (n.*25A>G)
c.3953A>G (p.Asp1318Gly)
c.9803A>G (p.Asp3268Gly)
c.9683A>G (p.Asp3228Gly)
c.9614A>G (p.Asp3205Gly)
c.8018A>G (p.Asp2673Gly)
n.10154A>G
6g.51746841T>GCA364419608PKHD1c.9878A>C (p.Asp3293Ala)
c.9749A>C (p.Asp3250Ala)
c.9740A>C (p.Asp3247Ala)
c.9236A>C (p.Asp3079Ala)
c.9167A>C (p.Asp3056Ala)
c.*25A>C (n.*25A>C)
c.3953A>C (p.Asp1318Ala)
c.9803A>C (p.Asp3268Ala)
c.9683A>C (p.Asp3228Ala)
c.9614A>C (p.Asp3205Ala)
c.8018A>C (p.Asp2673Ala)
n.10154A>C
6g.51746842C>ACA364419609PKHD1c.9877G>T (p.Asp3293Tyr)
c.9748G>T (p.Asp3250Tyr)
c.9739G>T (p.Asp3247Tyr)
c.9235G>T (p.Asp3079Tyr)
c.9166G>T (p.Asp3056Tyr)
c.*24G>T (n.*24G>T)
c.3952G>T (p.Asp1318Tyr)
c.9802G>T (p.Asp3268Tyr)
c.9682G>T (p.Asp3228Tyr)
c.9613G>T (p.Asp3205Tyr)
c.8017G>T (p.Asp2673Tyr)
n.10153G>T
 gnomAD v4
6g.51746842C=CA1628500538PKHD1c.9877G= (p.Asp3293=)
c.9748G= (p.Asp3250=)
c.9739G= (p.Asp3247=)
c.9235G= (p.Asp3079=)
c.9166G= (p.Asp3056=)
c.*24G= (n.*24G=)
c.3952G= (p.Asp1318=)
c.9802G= (p.Asp3268=)
c.9682G= (p.Asp3228=)
c.9613G= (p.Asp3205=)
c.8017G= (p.Asp2673=)
n.10153G=
6g.51746842C>GCA364419611PKHD1c.9877G>C (p.Asp3293His)
c.9748G>C (p.Asp3250His)
c.9739G>C (p.Asp3247His)
c.9235G>C (p.Asp3079His)
c.9166G>C (p.Asp3056His)
c.*24G>C (n.*24G>C)
c.3952G>C (p.Asp1318His)
c.9802G>C (p.Asp3268His)
c.9682G>C (p.Asp3228His)
c.9613G>C (p.Asp3205His)
c.8017G>C (p.Asp2673His)
n.10153G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51746842C>TCA16612174PKHD1c.9877G>A (p.Asp3293Asn)
c.9748G>A (p.Asp3250Asn)
c.9739G>A (p.Asp3247Asn)
c.9235G>A (p.Asp3079Asn)
c.9166G>A (p.Asp3056Asn)
c.*24G>A (n.*24G>A)
c.3952G>A (p.Asp1318Asn)
c.9802G>A (p.Asp3268Asn)
c.9682G>A (p.Asp3228Asn)
c.9613G>A (p.Asp3205Asn)
c.8017G>A (p.Asp2673Asn)
n.10153G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51746843C>ACA450412402PKHD1c.9876G>T (p.Leu3292=)
c.9747G>T (p.Leu3249=)
c.9738G>T (p.Leu3246=)
c.9234G>T (p.Leu3078=)
c.9165G>T (p.Leu3055=)
c.*23G>T (n.*23G>T)
c.3951G>T (p.Leu1317=)
c.9801G>T (p.Leu3267=)
c.9681G>T (p.Leu3227=)
c.9612G>T (p.Leu3204=)
c.8016G>T (p.Leu2672=)
n.10152G>T
 gnomAD v4
6g.51746843C>GCA450412403PKHD1c.9876G>C (p.Leu3292=)
c.9747G>C (p.Leu3249=)
c.9738G>C (p.Leu3246=)
c.9234G>C (p.Leu3078=)
c.9165G>C (p.Leu3055=)
c.*23G>C (n.*23G>C)
c.3951G>C (p.Leu1317=)
c.9801G>C (p.Leu3267=)
c.9681G>C (p.Leu3227=)
c.9612G>C (p.Leu3204=)
c.8016G>C (p.Leu2672=)
n.10152G>C
 ClinVar
6g.51746843C>TCA450412404PKHD1c.9876G>A (p.Leu3292=)
c.9747G>A (p.Leu3249=)
c.9738G>A (p.Leu3246=)
c.9234G>A (p.Leu3078=)
c.9165G>A (p.Leu3055=)
c.*23G>A (n.*23G>A)
c.3951G>A (p.Leu1317=)
c.9801G>A (p.Leu3267=)
c.9681G>A (p.Leu3227=)
c.9612G>A (p.Leu3204=)
c.8016G>A (p.Leu2672=)
n.10152G>A
6g.51746844A>CCA364419617PKHD1c.9875T>G (p.Leu3292Arg)
c.9746T>G (p.Leu3249Arg)
c.9737T>G (p.Leu3246Arg)
c.9233T>G (p.Leu3078Arg)
c.9164T>G (p.Leu3055Arg)
c.*22T>G (n.*22T>G)
c.3950T>G (p.Leu1317Arg)
c.9800T>G (p.Leu3267Arg)
c.9680T>G (p.Leu3227Arg)
c.9611T>G (p.Leu3204Arg)
c.8015T>G (p.Leu2672Arg)
n.10151T>G
6g.51746844A>GCA364419615PKHD1c.9875T>C (p.Leu3292Pro)
c.9746T>C (p.Leu3249Pro)
c.9737T>C (p.Leu3246Pro)
c.9233T>C (p.Leu3078Pro)
c.9164T>C (p.Leu3055Pro)
c.*22T>C (n.*22T>C)
c.3950T>C (p.Leu1317Pro)
c.9800T>C (p.Leu3267Pro)
c.9680T>C (p.Leu3227Pro)
c.9611T>C (p.Leu3204Pro)
c.8015T>C (p.Leu2672Pro)
n.10151T>C
 gnomAD v4
6g.51746844A>TCA364419613PKHD1c.9875T>A (p.Leu3292Gln)
c.9746T>A (p.Leu3249Gln)
c.9737T>A (p.Leu3246Gln)
c.9233T>A (p.Leu3078Gln)
c.9164T>A (p.Leu3055Gln)
c.*22T>A (n.*22T>A)
c.3950T>A (p.Leu1317Gln)
c.9800T>A (p.Leu3267Gln)
c.9680T>A (p.Leu3227Gln)
c.9611T>A (p.Leu3204Gln)
c.8015T>A (p.Leu2672Gln)
n.10151T>A
6g.51746845G>ACA450412405PKHD1c.9874C>T (p.Leu3292=)
c.9745C>T (p.Leu3249=)
c.9736C>T (p.Leu3246=)
c.9232C>T (p.Leu3078=)
c.9163C>T (p.Leu3055=)
c.*21C>T (n.*21C>T)
c.3949C>T (p.Leu1317=)
c.9799C>T (p.Leu3267=)
c.9679C>T (p.Leu3227=)
c.9610C>T (p.Leu3204=)
c.8014C>T (p.Leu2672=)
n.10150C>T
 ClinVar dbSNP
6g.51746845G>CCA364419619PKHD1c.9874C>G (p.Leu3292Val)
c.9745C>G (p.Leu3249Val)
c.9736C>G (p.Leu3246Val)
c.9232C>G (p.Leu3078Val)
c.9163C>G (p.Leu3055Val)
c.*21C>G (n.*21C>G)
c.3949C>G (p.Leu1317Val)
c.9799C>G (p.Leu3267Val)
c.9679C>G (p.Leu3227Val)
c.9610C>G (p.Leu3204Val)
c.8014C>G (p.Leu2672Val)
n.10150C>G
6g.51746845G>TCA364419621PKHD1c.9874C>A (p.Leu3292Met)
c.9745C>A (p.Leu3249Met)
c.9736C>A (p.Leu3246Met)
c.9232C>A (p.Leu3078Met)
c.9163C>A (p.Leu3055Met)
c.*21C>A (n.*21C>A)
c.3949C>A (p.Leu1317Met)
c.9799C>A (p.Leu3267Met)
c.9679C>A (p.Leu3227Met)
c.9610C>A (p.Leu3204Met)
c.8014C>A (p.Leu2672Met)
n.10150C>A
6g.51746846G>ACA450412406PKHD1c.9873C>T (p.Asp3291=)
c.9744C>T (p.Asp3248=)
c.9735C>T (p.Asp3245=)
c.9231C>T (p.Asp3077=)
c.9162C>T (p.Asp3054=)
c.*20C>T (n.*20C>T)
c.3948C>T (p.Asp1316=)
c.9798C>T (p.Asp3266=)
c.9678C>T (p.Asp3226=)
c.9609C>T (p.Asp3203=)
c.8013C>T (p.Asp2671=)
n.10149C>T
 gnomAD v4
6g.51746846G>CCA364419623PKHD1c.9873C>G (p.Asp3291Glu)
c.9744C>G (p.Asp3248Glu)
c.9735C>G (p.Asp3245Glu)
c.9231C>G (p.Asp3077Glu)
c.9162C>G (p.Asp3054Glu)
c.*20C>G (n.*20C>G)
c.3948C>G (p.Asp1316Glu)
c.9798C>G (p.Asp3266Glu)
c.9678C>G (p.Asp3226Glu)
c.9609C>G (p.Asp3203Glu)
c.8013C>G (p.Asp2671Glu)
n.10149C>G
6g.51746846G>TCA364419624PKHD1c.9873C>A (p.Asp3291Glu)
c.9744C>A (p.Asp3248Glu)
c.9735C>A (p.Asp3245Glu)
c.9231C>A (p.Asp3077Glu)
c.9162C>A (p.Asp3054Glu)
c.*20C>A (n.*20C>A)
c.3948C>A (p.Asp1316Glu)
c.9798C>A (p.Asp3266Glu)
c.9678C>A (p.Asp3226Glu)
c.9609C>A (p.Asp3203Glu)
c.8013C>A (p.Asp2671Glu)
n.10149C>A
6g.51746847T>ACA364419627PKHD1c.9872A>T (p.Asp3291Val)
c.9743A>T (p.Asp3248Val)
c.9734A>T (p.Asp3245Val)
c.9230A>T (p.Asp3077Val)
c.9161A>T (p.Asp3054Val)
c.*19A>T (n.*19A>T)
c.3947A>T (p.Asp1316Val)
c.9797A>T (p.Asp3266Val)
c.9677A>T (p.Asp3226Val)
c.9608A>T (p.Asp3203Val)
c.8012A>T (p.Asp2671Val)
n.10148A>T
6g.51746847T>CCA364419629PKHD1c.9872A>G (p.Asp3291Gly)
c.9743A>G (p.Asp3248Gly)
c.9734A>G (p.Asp3245Gly)
c.9230A>G (p.Asp3077Gly)
c.9161A>G (p.Asp3054Gly)
c.*19A>G (n.*19A>G)
c.3947A>G (p.Asp1316Gly)
c.9797A>G (p.Asp3266Gly)
c.9677A>G (p.Asp3226Gly)
c.9608A>G (p.Asp3203Gly)
c.8012A>G (p.Asp2671Gly)
n.10148A>G
6g.51746847T>GCA364419630PKHD1c.9872A>C (p.Asp3291Ala)
c.9743A>C (p.Asp3248Ala)
c.9734A>C (p.Asp3245Ala)
c.9230A>C (p.Asp3077Ala)
c.9161A>C (p.Asp3054Ala)
c.*19A>C (n.*19A>C)
c.3947A>C (p.Asp1316Ala)
c.9797A>C (p.Asp3266Ala)
c.9677A>C (p.Asp3226Ala)
c.9608A>C (p.Asp3203Ala)
c.8012A>C (p.Asp2671Ala)
n.10148A>C
6g.51746848C>ACA364419633PKHD1c.9871G>T (p.Asp3291Tyr)
c.9742G>T (p.Asp3248Tyr)
c.9733G>T (p.Asp3245Tyr)
c.9229G>T (p.Asp3077Tyr)
c.9160G>T (p.Asp3054Tyr)
c.*18G>T (n.*18G>T)
c.3946G>T (p.Asp1316Tyr)
c.9796G>T (p.Asp3266Tyr)
c.9676G>T (p.Asp3226Tyr)
c.9607G>T (p.Asp3203Tyr)
c.8011G>T (p.Asp2671Tyr)
n.10147G>T
6g.51746848C>GCA364419635PKHD1c.9871G>C (p.Asp3291His)
c.9742G>C (p.Asp3248His)
c.9733G>C (p.Asp3245His)
c.9229G>C (p.Asp3077His)
c.9160G>C (p.Asp3054His)
c.*18G>C (n.*18G>C)
c.3946G>C (p.Asp1316His)
c.9796G>C (p.Asp3266His)
c.9676G>C (p.Asp3226His)
c.9607G>C (p.Asp3203His)
c.8011G>C (p.Asp2671His)
n.10147G>C
6g.51746848C>TCA364419636PKHD1c.9871G>A (p.Asp3291Asn)
c.9742G>A (p.Asp3248Asn)
c.9733G>A (p.Asp3245Asn)
c.9229G>A (p.Asp3077Asn)
c.9160G>A (p.Asp3054Asn)
c.*18G>A (n.*18G>A)
c.3946G>A (p.Asp1316Asn)
c.9796G>A (p.Asp3266Asn)
c.9676G>A (p.Asp3226Asn)
c.9607G>A (p.Asp3203Asn)
c.8011G>A (p.Asp2671Asn)
n.10147G>A
6g.51746849A>CCA364419639PKHD1c.9870T>G (p.Asp3290Glu)
c.9741T>G (p.Asp3247Glu)
c.9732T>G (p.Asp3244Glu)
c.9228T>G (p.Asp3076Glu)
c.9159T>G (p.Asp3053Glu)
c.*17T>G (n.*17T>G)
c.3945T>G (p.Asp1315Glu)
c.9795T>G (p.Asp3265Glu)
c.9675T>G (p.Asp3225Glu)
c.9606T>G (p.Asp3202Glu)
c.8010T>G (p.Asp2670Glu)
n.10146T>G
6g.51746849A>GCA450412407PKHD1c.9870T>C (p.Asp3290=)
c.9741T>C (p.Asp3247=)
c.9732T>C (p.Asp3244=)
c.9228T>C (p.Asp3076=)
c.9159T>C (p.Asp3053=)
c.*17T>C (n.*17T>C)
c.3945T>C (p.Asp1315=)
c.9795T>C (p.Asp3265=)
c.9675T>C (p.Asp3225=)
c.9606T>C (p.Asp3202=)
c.8010T>C (p.Asp2670=)
n.10146T>C
6g.51746849A>TCA364419641PKHD1c.9870T>A (p.Asp3290Glu)
c.9741T>A (p.Asp3247Glu)
c.9732T>A (p.Asp3244Glu)
c.9228T>A (p.Asp3076Glu)
c.9159T>A (p.Asp3053Glu)
c.*17T>A (n.*17T>A)
c.3945T>A (p.Asp1315Glu)
c.9795T>A (p.Asp3265Glu)
c.9675T>A (p.Asp3225Glu)
c.9606T>A (p.Asp3202Glu)
c.8010T>A (p.Asp2670Glu)
n.10146T>A
6g.51746850T>ACA364419645PKHD1c.9869A>T (p.Asp3290Val)
c.9740A>T (p.Asp3247Val)
c.9731A>T (p.Asp3244Val)
c.9227A>T (p.Asp3076Val)
c.9158A>T (p.Asp3053Val)
c.*16A>T (n.*16A>T)
c.3944A>T (p.Asp1315Val)
c.9794A>T (p.Asp3265Val)
c.9674A>T (p.Asp3225Val)
c.9605A>T (p.Asp3202Val)
c.8009A>T (p.Asp2670Val)
n.10145A>T
6g.51746850T>CCA364419643PKHD1c.9869A>G (p.Asp3290Gly)
c.9740A>G (p.Asp3247Gly)
c.9731A>G (p.Asp3244Gly)
c.9227A>G (p.Asp3076Gly)
c.9158A>G (p.Asp3053Gly)
c.*16A>G (n.*16A>G)
c.3944A>G (p.Asp1315Gly)
c.9794A>G (p.Asp3265Gly)
c.9674A>G (p.Asp3225Gly)
c.9605A>G (p.Asp3202Gly)
c.8009A>G (p.Asp2670Gly)
n.10145A>G
 dbSNP gnomAD v4
6g.51746850T>GCA364419642PKHD1c.9869A>C (p.Asp3290Ala)
c.9740A>C (p.Asp3247Ala)
c.9731A>C (p.Asp3244Ala)
c.9227A>C (p.Asp3076Ala)
c.9158A>C (p.Asp3053Ala)
c.*16A>C (n.*16A>C)
c.3944A>C (p.Asp1315Ala)
c.9794A>C (p.Asp3265Ala)
c.9674A>C (p.Asp3225Ala)
c.9605A>C (p.Asp3202Ala)
c.8009A>C (p.Asp2670Ala)
n.10145A>C
6g.51746850T=CA1628500546PKHD1c.9869A= (p.Asp3290=)
c.9740A= (p.Asp3247=)
c.9731A= (p.Asp3244=)
c.9227A= (p.Asp3076=)
c.9158A= (p.Asp3053=)
c.*16A= (n.*16A=)
c.3944A= (p.Asp1315=)
c.9794A= (p.Asp3265=)
c.9674A= (p.Asp3225=)
c.9605A= (p.Asp3202=)
c.8009A= (p.Asp2670=)
n.10145A=
6g.51746851C>ACA3851299PKHD1c.9868G>T (p.Asp3290Tyr)
c.9739G>T (p.Asp3247Tyr)
c.9730G>T (p.Asp3244Tyr)
c.9226G>T (p.Asp3076Tyr)
c.9157G>T (p.Asp3053Tyr)
c.*15G>T (n.*15G>T)
c.3943G>T (p.Asp1315Tyr)
c.9793G>T (p.Asp3265Tyr)
c.9673G>T (p.Asp3225Tyr)
c.9604G>T (p.Asp3202Tyr)
c.8008G>T (p.Asp2670Tyr)
n.10144G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51746851C=CA1628500553PKHD1c.9868G= (p.Asp3290=)
c.9739G= (p.Asp3247=)
c.9730G= (p.Asp3244=)
c.9226G= (p.Asp3076=)
c.9157G= (p.Asp3053=)
c.*15G= (n.*15G=)
c.3943G= (p.Asp1315=)
c.9793G= (p.Asp3265=)
c.9673G= (p.Asp3225=)
c.9604G= (p.Asp3202=)
c.8008G= (p.Asp2670=)
n.10144G=
6g.51746851C>GCA364419649PKHD1c.9868G>C (p.Asp3290His)
c.9739G>C (p.Asp3247His)
c.9730G>C (p.Asp3244His)
c.9226G>C (p.Asp3076His)
c.9157G>C (p.Asp3053His)
c.*15G>C (n.*15G>C)
c.3943G>C (p.Asp1315His)
c.9793G>C (p.Asp3265His)
c.9673G>C (p.Asp3225His)
c.9604G>C (p.Asp3202His)
c.8008G>C (p.Asp2670His)
n.10144G>C
6g.51746851C>TCA3851298PKHD1c.9868G>A (p.Asp3290Asn)
c.9739G>A (p.Asp3247Asn)
c.9730G>A (p.Asp3244Asn)
c.9226G>A (p.Asp3076Asn)
c.9157G>A (p.Asp3053Asn)
c.*15G>A (n.*15G>A)
c.3943G>A (p.Asp1315Asn)
c.9793G>A (p.Asp3265Asn)
c.9673G>A (p.Asp3225Asn)
c.9604G>A (p.Asp3202Asn)
c.8008G>A (p.Asp2670Asn)
n.10144G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51746852G>ACA3851300PKHD1c.9867C>T (p.Ser3289=)
c.9738C>T (p.Ser3246=)
c.9729C>T (p.Ser3243=)
c.9225C>T (p.Ser3075=)
c.9156C>T (p.Ser3052=)
c.*14C>T (n.*14C>T)
c.3942C>T (p.Ser1314=)
c.9792C>T (p.Ser3264=)
c.9672C>T (p.Ser3224=)
c.9603C>T (p.Ser3201=)
c.8007C>T (p.Ser2669=)
n.10143C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51746852G>CCA364419652PKHD1c.9867C>G (p.Ser3289Arg)
c.9738C>G (p.Ser3246Arg)
c.9729C>G (p.Ser3243Arg)
c.9225C>G (p.Ser3075Arg)
c.9156C>G (p.Ser3052Arg)
c.*14C>G (n.*14C>G)
c.3942C>G (p.Ser1314Arg)
c.9792C>G (p.Ser3264Arg)
c.9672C>G (p.Ser3224Arg)
c.9603C>G (p.Ser3201Arg)
c.8007C>G (p.Ser2669Arg)
n.10143C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51746852G=CA1628500564PKHD1c.9867C= (p.Ser3289=)
c.9738C= (p.Ser3246=)
c.9729C= (p.Ser3243=)
c.9225C= (p.Ser3075=)
c.9156C= (p.Ser3052=)
c.*14C= (n.*14C=)
c.3942C= (p.Ser1314=)
c.9792C= (p.Ser3264=)
c.9672C= (p.Ser3224=)
c.9603C= (p.Ser3201=)
c.8007C= (p.Ser2669=)
n.10143C=
6g.51746852G>TCA364419654PKHD1c.9867C>A (p.Ser3289Arg)
c.9738C>A (p.Ser3246Arg)
c.9729C>A (p.Ser3243Arg)
c.9225C>A (p.Ser3075Arg)
c.9156C>A (p.Ser3052Arg)
c.*14C>A (n.*14C>A)
c.3942C>A (p.Ser1314Arg)
c.9792C>A (p.Ser3264Arg)
c.9672C>A (p.Ser3224Arg)
c.9603C>A (p.Ser3201Arg)
c.8007C>A (p.Ser2669Arg)
n.10143C>A
 gnomAD v4 COSMIC COSMIC
6g.51746853C>ACA234561PKHD1c.9866G>T (p.Ser3289Ile)
c.9737G>T (p.Ser3246Ile)
c.9728G>T (p.Ser3243Ile)
c.9224G>T (p.Ser3075Ile)
c.9155G>T (p.Ser3052Ile)
c.*13G>T (n.*13G>T)
c.3941G>T (p.Ser1314Ile)
c.9791G>T (p.Ser3264Ile)
c.9671G>T (p.Ser3224Ile)
c.9602G>T (p.Ser3201Ile)
c.8006G>T (p.Ser2669Ile)
n.10142G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51746853C=CA1628500577PKHD1c.9866G= (p.Ser3289=)
c.9737G= (p.Ser3246=)
c.9728G= (p.Ser3243=)
c.9224G= (p.Ser3075=)
c.9155G= (p.Ser3052=)
c.*13G= (n.*13G=)
c.3941G= (p.Ser1314=)
c.9791G= (p.Ser3264=)
c.9671G= (p.Ser3224=)
c.9602G= (p.Ser3201=)
c.8006G= (p.Ser2669=)
n.10142G=
6g.51746853C>GCA364419657PKHD1c.9866G>C (p.Ser3289Thr)
c.9737G>C (p.Ser3246Thr)
c.9728G>C (p.Ser3243Thr)
c.9224G>C (p.Ser3075Thr)
c.9155G>C (p.Ser3052Thr)
c.*13G>C (n.*13G>C)
c.3941G>C (p.Ser1314Thr)
c.9791G>C (p.Ser3264Thr)
c.9671G>C (p.Ser3224Thr)
c.9602G>C (p.Ser3201Thr)
c.8006G>C (p.Ser2669Thr)
n.10142G>C
 gnomAD v4
6g.51746853C>TCA364419659PKHD1c.9866G>A (p.Ser3289Asn)
c.9737G>A (p.Ser3246Asn)
c.9728G>A (p.Ser3243Asn)
c.9224G>A (p.Ser3075Asn)
c.9155G>A (p.Ser3052Asn)
c.*13G>A (n.*13G>A)
c.3941G>A (p.Ser1314Asn)
c.9791G>A (p.Ser3264Asn)
c.9671G>A (p.Ser3224Asn)
c.9602G>A (p.Ser3201Asn)
c.8006G>A (p.Ser2669Asn)
n.10142G>A
 dbSNP gnomAD v3 gnomAD v4
6g.51746854T>ACA364419665PKHD1c.9865A>T (p.Ser3289Cys)
c.9736A>T (p.Ser3246Cys)
c.9727A>T (p.Ser3243Cys)
c.9223A>T (p.Ser3075Cys)
c.9154A>T (p.Ser3052Cys)
c.*12A>T (n.*12A>T)
c.3940A>T (p.Ser1314Cys)
c.9790A>T (p.Ser3264Cys)
c.9670A>T (p.Ser3224Cys)
c.9601A>T (p.Ser3201Cys)
c.8005A>T (p.Ser2669Cys)
n.10141A>T
6g.51746854T>CCA364419662PKHD1c.9865A>G (p.Ser3289Gly)
c.9736A>G (p.Ser3246Gly)
c.9727A>G (p.Ser3243Gly)
c.9223A>G (p.Ser3075Gly)
c.9154A>G (p.Ser3052Gly)
c.*12A>G (n.*12A>G)
c.3940A>G (p.Ser1314Gly)
c.9790A>G (p.Ser3264Gly)
c.9670A>G (p.Ser3224Gly)
c.9601A>G (p.Ser3201Gly)
c.8005A>G (p.Ser2669Gly)
n.10141A>G
6g.51746854T>GCA364419663PKHD1c.9865A>C (p.Ser3289Arg)
c.9736A>C (p.Ser3246Arg)
c.9727A>C (p.Ser3243Arg)
c.9223A>C (p.Ser3075Arg)
c.9154A>C (p.Ser3052Arg)
c.*12A>C (n.*12A>C)
c.3940A>C (p.Ser1314Arg)
c.9790A>C (p.Ser3264Arg)
c.9670A>C (p.Ser3224Arg)
c.9601A>C (p.Ser3201Arg)
c.8005A>C (p.Ser2669Arg)
n.10141A>C
6g.51746855A=CA1628500582PKHD1c.9864T= (p.Tyr3288=)
c.9735T= (p.Tyr3245=)
c.9726T= (p.Tyr3242=)
c.9222T= (p.Tyr3074=)
c.9153T= (p.Tyr3051=)
c.*11T= (n.*11T=)
c.3939T= (p.Tyr1313=)
c.9789T= (p.Tyr3263=)
c.9669T= (p.Tyr3223=)
c.9600T= (p.Tyr3200=)
c.8004T= (p.Tyr2668=)
n.10140T=
6g.51746855A>CCA364419668PKHD1c.9864T>G (p.Tyr3288Ter)
c.9735T>G (p.Tyr3245Ter)
c.9726T>G (p.Tyr3242Ter)
c.9222T>G (p.Tyr3074Ter)
c.9153T>G (p.Tyr3051Ter)
c.*11T>G (n.*11T>G)
c.3939T>G (p.Tyr1313Ter)
c.9789T>G (p.Tyr3263Ter)
c.9669T>G (p.Tyr3223Ter)
c.9600T>G (p.Tyr3200Ter)
c.8004T>G (p.Tyr2668Ter)
n.10140T>G
6g.51746855A>GCA450412408PKHD1c.9864T>C (p.Tyr3288=)
c.9735T>C (p.Tyr3245=)
c.9726T>C (p.Tyr3242=)
c.9222T>C (p.Tyr3074=)
c.9153T>C (p.Tyr3051=)
c.*11T>C (n.*11T>C)
c.3939T>C (p.Tyr1313=)
c.9789T>C (p.Tyr3263=)
c.9669T>C (p.Tyr3223=)
c.9600T>C (p.Tyr3200=)
c.8004T>C (p.Tyr2668=)
n.10140T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51746855A>TCA364419669PKHD1c.9864T>A (p.Tyr3288Ter)
c.9735T>A (p.Tyr3245Ter)
c.9726T>A (p.Tyr3242Ter)
c.9222T>A (p.Tyr3074Ter)
c.9153T>A (p.Tyr3051Ter)
c.*11T>A (n.*11T>A)
c.3939T>A (p.Tyr1313Ter)
c.9789T>A (p.Tyr3263Ter)
c.9669T>A (p.Tyr3223Ter)
c.9600T>A (p.Tyr3200Ter)
c.8004T>A (p.Tyr2668Ter)
n.10140T>A
6g.51746856T>ACA364419671PKHD1c.9863A>T (p.Tyr3288Phe)
c.9734A>T (p.Tyr3245Phe)
c.9725A>T (p.Tyr3242Phe)
c.9221A>T (p.Tyr3074Phe)
c.9152A>T (p.Tyr3051Phe)
c.*10A>T (n.*10A>T)
c.3938A>T (p.Tyr1313Phe)
c.9788A>T (p.Tyr3263Phe)
c.9668A>T (p.Tyr3223Phe)
c.9599A>T (p.Tyr3200Phe)
c.8003A>T (p.Tyr2668Phe)
n.10139A>T
6g.51746856T>CCA3851301PKHD1c.9863A>G (p.Tyr3288Cys)
c.9734A>G (p.Tyr3245Cys)
c.9725A>G (p.Tyr3242Cys)
c.9221A>G (p.Tyr3074Cys)
c.9152A>G (p.Tyr3051Cys)
c.*10A>G (n.*10A>G)
c.3938A>G (p.Tyr1313Cys)
c.9788A>G (p.Tyr3263Cys)
c.9668A>G (p.Tyr3223Cys)
c.9599A>G (p.Tyr3200Cys)
c.8003A>G (p.Tyr2668Cys)
n.10139A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51746856T>GCA364419673PKHD1c.9863A>C (p.Tyr3288Ser)
c.9734A>C (p.Tyr3245Ser)
c.9725A>C (p.Tyr3242Ser)
c.9221A>C (p.Tyr3074Ser)
c.9152A>C (p.Tyr3051Ser)
c.*10A>C (n.*10A>C)
c.3938A>C (p.Tyr1313Ser)
c.9788A>C (p.Tyr3263Ser)
c.9668A>C (p.Tyr3223Ser)
c.9599A>C (p.Tyr3200Ser)
c.8003A>C (p.Tyr2668Ser)
n.10139A>C
6g.51746856T=CA1628500588PKHD1c.9863A= (p.Tyr3288=)
c.9734A= (p.Tyr3245=)
c.9725A= (p.Tyr3242=)
c.9221A= (p.Tyr3074=)
c.9152A= (p.Tyr3051=)
c.*10A= (n.*10A=)
c.3938A= (p.Tyr1313=)
c.9788A= (p.Tyr3263=)
c.9668A= (p.Tyr3223=)
c.9599A= (p.Tyr3200=)
c.8003A= (p.Tyr2668=)
n.10139A=
6g.51746857A>CCA364419679PKHD1c.9862T>G (p.Tyr3288Asp)
c.9733T>G (p.Tyr3245Asp)
c.9724T>G (p.Tyr3242Asp)
c.9220T>G (p.Tyr3074Asp)
c.9151T>G (p.Tyr3051Asp)
c.*9T>G (n.*9T>G)
c.3937T>G (p.Tyr1313Asp)
c.9787T>G (p.Tyr3263Asp)
c.9667T>G (p.Tyr3223Asp)
c.9598T>G (p.Tyr3200Asp)
c.8002T>G (p.Tyr2668Asp)
n.10138T>G
6g.51746857A>GCA364419676PKHD1c.9862T>C (p.Tyr3288His)
c.9733T>C (p.Tyr3245His)
c.9724T>C (p.Tyr3242His)
c.9220T>C (p.Tyr3074His)
c.9151T>C (p.Tyr3051His)
c.*9T>C (n.*9T>C)
c.3937T>C (p.Tyr1313His)
c.9787T>C (p.Tyr3263His)
c.9667T>C (p.Tyr3223His)
c.9598T>C (p.Tyr3200His)
c.8002T>C (p.Tyr2668His)
n.10138T>C
6g.51746857A>TCA364419677PKHD1c.9862T>A (p.Tyr3288Asn)
c.9733T>A (p.Tyr3245Asn)
c.9724T>A (p.Tyr3242Asn)
c.9220T>A (p.Tyr3074Asn)
c.9151T>A (p.Tyr3051Asn)
c.*9T>A (n.*9T>A)
c.3937T>A (p.Tyr1313Asn)
c.9787T>A (p.Tyr3263Asn)
c.9667T>A (p.Tyr3223Asn)
c.9598T>A (p.Tyr3200Asn)
c.8002T>A (p.Tyr2668Asn)
n.10138T>A
6g.51746858G>ACA3851302PKHD1c.9861C>T (p.Cys3287=)
c.9732C>T (p.Cys3244=)
c.9723C>T (p.Cys3241=)
c.9219C>T (p.Cys3073=)
c.9150C>T (p.Cys3050=)
c.*8C>T (n.*8C>T)
c.3936C>T (p.Cys1312=)
c.9786C>T (p.Cys3262=)
c.9666C>T (p.Cys3222=)
c.9597C>T (p.Cys3199=)
c.8001C>T (p.Cys2667=)
n.10137C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51746858G>CCA364419682PKHD1c.9861C>G (p.Cys3287Trp)
c.9732C>G (p.Cys3244Trp)
c.9723C>G (p.Cys3241Trp)
c.9219C>G (p.Cys3073Trp)
c.9150C>G (p.Cys3050Trp)
c.*8C>G (n.*8C>G)
c.3936C>G (p.Cys1312Trp)
c.9786C>G (p.Cys3262Trp)
c.9666C>G (p.Cys3222Trp)
c.9597C>G (p.Cys3199Trp)
c.8001C>G (p.Cys2667Trp)
n.10137C>G
6g.51746858G=CA1628500593PKHD1c.9861C= (p.Cys3287=)
c.9732C= (p.Cys3244=)
c.9723C= (p.Cys3241=)
c.9219C= (p.Cys3073=)
c.9150C= (p.Cys3050=)
c.*8C= (n.*8C=)
c.3936C= (p.Cys1312=)
c.9786C= (p.Cys3262=)
c.9666C= (p.Cys3222=)
c.9597C= (p.Cys3199=)
c.8001C= (p.Cys2667=)
n.10137C=
6g.51746858G>TCA364419684PKHD1c.9861C>A (p.Cys3287Ter)
c.9732C>A (p.Cys3244Ter)
c.9723C>A (p.Cys3241Ter)
c.9219C>A (p.Cys3073Ter)
c.9150C>A (p.Cys3050Ter)
c.*8C>A (n.*8C>A)
c.3936C>A (p.Cys1312Ter)
c.9786C>A (p.Cys3262Ter)
c.9666C>A (p.Cys3222Ter)
c.9597C>A (p.Cys3199Ter)
c.8001C>A (p.Cys2667Ter)
n.10137C>A
 gnomAD v4
6g.51746859C>ACA364419686PKHD1c.9860G>T (p.Cys3287Phe)
c.9731G>T (p.Cys3244Phe)
c.9722G>T (p.Cys3241Phe)
c.9218G>T (p.Cys3073Phe)
c.9149G>T (p.Cys3050Phe)
c.*7G>T (n.*7G>T)
c.3935G>T (p.Cys1312Phe)
c.9785G>T (p.Cys3262Phe)
c.9665G>T (p.Cys3222Phe)
c.9596G>T (p.Cys3199Phe)
c.8000G>T (p.Cys2667Phe)
n.10136G>T
6g.51746859C=CA1628500596PKHD1c.9860G= (p.Cys3287=)
c.9731G= (p.Cys3244=)
c.9722G= (p.Cys3241=)
c.9218G= (p.Cys3073=)
c.9149G= (p.Cys3050=)
c.*7G= (n.*7G=)
c.3935G= (p.Cys1312=)
c.9785G= (p.Cys3262=)
c.9665G= (p.Cys3222=)
c.9596G= (p.Cys3199=)
c.8000G= (p.Cys2667=)
n.10136G=
6g.51746859C>GCA364419688PKHD1c.9860G>C (p.Cys3287Ser)
c.9731G>C (p.Cys3244Ser)
c.9722G>C (p.Cys3241Ser)
c.9218G>C (p.Cys3073Ser)
c.9149G>C (p.Cys3050Ser)
c.*7G>C (n.*7G>C)
c.3935G>C (p.Cys1312Ser)
c.9785G>C (p.Cys3262Ser)
c.9665G>C (p.Cys3222Ser)
c.9596G>C (p.Cys3199Ser)
c.8000G>C (p.Cys2667Ser)
n.10136G>C
6g.51746859C>TCA364419690PKHD1c.9860G>A (p.Cys3287Tyr)
c.9731G>A (p.Cys3244Tyr)
c.9722G>A (p.Cys3241Tyr)
c.9218G>A (p.Cys3073Tyr)
c.9149G>A (p.Cys3050Tyr)
c.*7G>A (n.*7G>A)
c.3935G>A (p.Cys1312Tyr)
c.9785G>A (p.Cys3262Tyr)
c.9665G>A (p.Cys3222Tyr)
c.9596G>A (p.Cys3199Tyr)
c.8000G>A (p.Cys2667Tyr)
n.10136G>A
6g.51746860A>CCA364419692PKHD1c.9859T>G (p.Cys3287Gly)
c.9730T>G (p.Cys3244Gly)
c.9721T>G (p.Cys3241Gly)
c.9217T>G (p.Cys3073Gly)
c.9148T>G (p.Cys3050Gly)
c.*6T>G (n.*6T>G)
c.3934T>G (p.Cys1312Gly)
c.9784T>G (p.Cys3262Gly)
c.9664T>G (p.Cys3222Gly)
c.9595T>G (p.Cys3199Gly)
c.7999T>G (p.Cys2667Gly)
n.10135T>G
6g.51746860A>GCA364419695PKHD1c.9859T>C (p.Cys3287Arg)
c.9730T>C (p.Cys3244Arg)
c.9721T>C (p.Cys3241Arg)
c.9217T>C (p.Cys3073Arg)
c.9148T>C (p.Cys3050Arg)
c.*6T>C (n.*6T>C)
c.3934T>C (p.Cys1312Arg)
c.9784T>C (p.Cys3262Arg)
c.9664T>C (p.Cys3222Arg)
c.9595T>C (p.Cys3199Arg)
c.7999T>C (p.Cys2667Arg)
n.10135T>C
6g.51746860A>TCA364419697PKHD1c.9859T>A (p.Cys3287Ser)
c.9730T>A (p.Cys3244Ser)
c.9721T>A (p.Cys3241Ser)
c.9217T>A (p.Cys3073Ser)
c.9148T>A (p.Cys3050Ser)
c.*6T>A (n.*6T>A)
c.3934T>A (p.Cys1312Ser)
c.9784T>A (p.Cys3262Ser)
c.9664T>A (p.Cys3222Ser)
c.9595T>A (p.Cys3199Ser)
c.7999T>A (p.Cys2667Ser)
n.10135T>A
6g.51746860_51746863dupCA16041030PKHD1c.9856_9859dup (p.Cys3287Ter)
c.9727_9730dup (p.Cys3244Ter)
c.9718_9721dup (p.Cys3241Ter)
c.9214_9217dup (p.Cys3073Ter)
c.9145_9148dup (p.Cys3050Ter)
c.*3_*6dup (n.*3_*6dup)
c.3931_3934dup (p.Cys1312Ter)
c.9781_9784dup (p.Cys3262Ter)
c.9661_9664dup (p.Cys3222Ter)
c.9592_9595dup (p.Cys3199Ter)
c.7996_7999dup (p.Cys2667Ter)
n.10132_10135dup
 ClinVar dbSNP
6g.51746861A>CCA364419700PKHD1c.9858T>G (p.Ser3286Arg)
c.9729T>G (p.Ser3243Arg)
c.9720T>G (p.Ser3240Arg)
c.9216T>G (p.Ser3072Arg)
c.9147T>G (p.Ser3049Arg)
c.*5T>G (n.*5T>G)
c.3933T>G (p.Ser1311Arg)
c.9783T>G (p.Ser3261Arg)
c.9663T>G (p.Ser3221Arg)
c.9594T>G (p.Ser3198Arg)
c.7998T>G (p.Ser2666Arg)
n.10134T>G
 COSMIC COSMIC
6g.51746861A>GCA450412409PKHD1c.9858T>C (p.Ser3286=)
c.9729T>C (p.Ser3243=)
c.9720T>C (p.Ser3240=)
c.9216T>C (p.Ser3072=)
c.9147T>C (p.Ser3049=)
c.*5T>C (n.*5T>C)
c.3933T>C (p.Ser1311=)
c.9783T>C (p.Ser3261=)
c.9663T>C (p.Ser3221=)
c.9594T>C (p.Ser3198=)
c.7998T>C (p.Ser2666=)
n.10134T>C
 gnomAD v4
6g.51746861A>TCA364419701PKHD1c.9858T>A (p.Ser3286Arg)
c.9729T>A (p.Ser3243Arg)
c.9720T>A (p.Ser3240Arg)
c.9216T>A (p.Ser3072Arg)
c.9147T>A (p.Ser3049Arg)
c.*5T>A (n.*5T>A)
c.3933T>A (p.Ser1311Arg)
c.9783T>A (p.Ser3261Arg)
c.9663T>A (p.Ser3221Arg)
c.9594T>A (p.Ser3198Arg)
c.7998T>A (p.Ser2666Arg)
n.10134T>A
6g.51746862C>ACA364419704PKHD1c.9857G>T (p.Ser3286Ile)
c.9728G>T (p.Ser3243Ile)
c.9719G>T (p.Ser3240Ile)
c.9215G>T (p.Ser3072Ile)
c.9146G>T (p.Ser3049Ile)
c.*4G>T (n.*4G>T)
c.3932G>T (p.Ser1311Ile)
c.9782G>T (p.Ser3261Ile)
c.9662G>T (p.Ser3221Ile)
c.9593G>T (p.Ser3198Ile)
c.7997G>T (p.Ser2666Ile)
n.10133G>T
6g.51746862C>GCA364419708PKHD1c.9857G>C (p.Ser3286Thr)
c.9728G>C (p.Ser3243Thr)
c.9719G>C (p.Ser3240Thr)
c.9215G>C (p.Ser3072Thr)
c.9146G>C (p.Ser3049Thr)
c.*4G>C (n.*4G>C)
c.3932G>C (p.Ser1311Thr)
c.9782G>C (p.Ser3261Thr)
c.9662G>C (p.Ser3221Thr)
c.9593G>C (p.Ser3198Thr)
c.7997G>C (p.Ser2666Thr)
n.10133G>C
6g.51746862C>TCA364419706PKHD1c.9857G>A (p.Ser3286Asn)
c.9728G>A (p.Ser3243Asn)
c.9719G>A (p.Ser3240Asn)
c.9215G>A (p.Ser3072Asn)
c.9146G>A (p.Ser3049Asn)
c.*4G>A (n.*4G>A)
c.3932G>A (p.Ser1311Asn)
c.9782G>A (p.Ser3261Asn)
c.9662G>A (p.Ser3221Asn)
c.9593G>A (p.Ser3198Asn)
c.7997G>A (p.Ser2666Asn)
n.10133G>A
6g.51746863T>ACA364419710PKHD1c.9856A>T (p.Ser3286Cys)
c.9727A>T (p.Ser3243Cys)
c.9718A>T (p.Ser3240Cys)
c.9214A>T (p.Ser3072Cys)
c.9145A>T (p.Ser3049Cys)
c.*3A>T (n.*3A>T)
c.3931A>T (p.Ser1311Cys)
c.9781A>T (p.Ser3261Cys)
c.9661A>T (p.Ser3221Cys)
c.9592A>T (p.Ser3198Cys)
c.7996A>T (p.Ser2666Cys)
n.10132A>T
 ClinVar dbSNP
6g.51746863T>CCA3851303PKHD1c.9856A>G (p.Ser3286Gly)
c.9727A>G (p.Ser3243Gly)
c.9718A>G (p.Ser3240Gly)
c.9214A>G (p.Ser3072Gly)
c.9145A>G (p.Ser3049Gly)
c.*3A>G (n.*3A>G)
c.3931A>G (p.Ser1311Gly)
c.9781A>G (p.Ser3261Gly)
c.9661A>G (p.Ser3221Gly)
c.9592A>G (p.Ser3198Gly)
c.7996A>G (p.Ser2666Gly)
n.10132A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51746863T>GCA364419713PKHD1c.9856A>C (p.Ser3286Arg)
c.9727A>C (p.Ser3243Arg)
c.9718A>C (p.Ser3240Arg)
c.9214A>C (p.Ser3072Arg)
c.9145A>C (p.Ser3049Arg)
c.*3A>C (n.*3A>C)
c.3931A>C (p.Ser1311Arg)
c.9781A>C (p.Ser3261Arg)
c.9661A>C (p.Ser3221Arg)
c.9592A>C (p.Ser3198Arg)
c.7996A>C (p.Ser2666Arg)
n.10132A>C
6g.51746863T=CA1628500602PKHD1c.9856A= (p.Ser3286=)
c.9727A= (p.Ser3243=)
c.9718A= (p.Ser3240=)
c.9214A= (p.Ser3072=)
c.9145A= (p.Ser3049=)
c.*3A= (n.*3A=)
c.3931A= (p.Ser1311=)
c.9781A= (p.Ser3261=)
c.9661A= (p.Ser3221=)
c.9592A= (p.Ser3198=)
c.7996A= (p.Ser2666=)
n.10132A=
6g.51746864C>ACA364419715PKHD1c.9855G>T (p.Lys3285Asn)
c.9726G>T (p.Lys3242Asn)
c.9717G>T (p.Lys3239Asn)
c.9213G>T (p.Lys3071Asn)
c.9144G>T (p.Lys3048Asn)
c.*2G>T (n.*2G>T)
c.3930G>T (p.Lys1310Asn)
c.9780G>T (p.Lys3260Asn)
c.9660G>T (p.Lys3220Asn)
c.9591G>T (p.Lys3197Asn)
c.7995G>T (p.Lys2665Asn)
n.10131G>T
6g.51746864C>GCA364419717PKHD1c.9855G>C (p.Lys3285Asn)
c.9726G>C (p.Lys3242Asn)
c.9717G>C (p.Lys3239Asn)
c.9213G>C (p.Lys3071Asn)
c.9144G>C (p.Lys3048Asn)
c.*2G>C (n.*2G>C)
c.3930G>C (p.Lys1310Asn)
c.9780G>C (p.Lys3260Asn)
c.9660G>C (p.Lys3220Asn)
c.9591G>C (p.Lys3197Asn)
c.7995G>C (p.Lys2665Asn)
n.10131G>C
6g.51746864C>TCA450412410PKHD1c.9855G>A (p.Lys3285=)
c.9726G>A (p.Lys3242=)
c.9717G>A (p.Lys3239=)
c.9213G>A (p.Lys3071=)
c.9144G>A (p.Lys3048=)
c.*2G>A (n.*2G>A)
c.3930G>A (p.Lys1310=)
c.9780G>A (p.Lys3260=)
c.9660G>A (p.Lys3220=)
c.9591G>A (p.Lys3197=)
c.7995G>A (p.Lys2665=)
n.10131G>A
6g.51746865T>ACA364419720PKHD1c.9854A>T (p.Lys3285Met)
c.9725A>T (p.Lys3242Met)
c.9716A>T (p.Lys3239Met)
c.9212A>T (p.Lys3071Met)
c.9143A>T (p.Lys3048Met)
c.*1A>T (n.*1A>T)
c.3929A>T (p.Lys1310Met)
c.9779A>T (p.Lys3260Met)
c.9659A>T (p.Lys3220Met)
c.9590A>T (p.Lys3197Met)
c.7994A>T (p.Lys2665Met)
n.10130A>T
 dbSNP
6g.51746865T>CCA364419721PKHD1c.9854A>G (p.Lys3285Arg)
c.9725A>G (p.Lys3242Arg)
c.9716A>G (p.Lys3239Arg)
c.9212A>G (p.Lys3071Arg)
c.9143A>G (p.Lys3048Arg)
c.*1A>G (n.*1A>G)
c.3929A>G (p.Lys1310Arg)
c.9779A>G (p.Lys3260Arg)
c.9659A>G (p.Lys3220Arg)
c.9590A>G (p.Lys3197Arg)
c.7994A>G (p.Lys2665Arg)
n.10130A>G
 dbSNP gnomAD v3 gnomAD v4
6g.51746865T>GCA364419723PKHD1c.9854A>C (p.Lys3285Thr)
c.9725A>C (p.Lys3242Thr)
c.9716A>C (p.Lys3239Thr)
c.9212A>C (p.Lys3071Thr)
c.9143A>C (p.Lys3048Thr)
c.*1A>C (n.*1A>C)
c.3929A>C (p.Lys1310Thr)
c.9779A>C (p.Lys3260Thr)
c.9659A>C (p.Lys3220Thr)
c.9590A>C (p.Lys3197Thr)
c.7994A>C (p.Lys2665Thr)
n.10130A>C
6g.51746865T=CA1628500610PKHD1c.9854A= (p.Lys3285=)
c.9725A= (p.Lys3242=)
c.9716A= (p.Lys3239=)
c.9212A= (p.Lys3071=)
c.9143A= (p.Lys3048=)
c.*1A= (n.*1A=)
c.3929A= (p.Lys1310=)
c.9779A= (p.Lys3260=)
c.9659A= (p.Lys3220=)
c.9590A= (p.Lys3197=)
c.7994A= (p.Lys2665=)
n.10130A=
6g.51746866T>ACA364419724PKHD1c.9853A>T (p.Lys3285Ter)
c.9724A>T (p.Lys3242Ter)
c.9715A>T (p.Lys3239Ter)
c.9211A>T (p.Lys3071Ter)
c.9142A>T (p.Lys3048Ter)
c.9837A>T (p.Ter3279Cys)
c.3928A>T (p.Lys1310Ter)
c.9778A>T (p.Lys3260Ter)
c.9658A>T (p.Lys3220Ter)
c.9589A>T (p.Lys3197Ter)
c.7993A>T (p.Lys2665Ter)
n.10129A>T
6g.51746866T>CCA364419725PKHD1c.9853A>G (p.Lys3285Glu)
c.9724A>G (p.Lys3242Glu)
c.9715A>G (p.Lys3239Glu)
c.9211A>G (p.Lys3071Glu)
c.9142A>G (p.Lys3048Glu)
c.9837A>G (p.Ter3279Trp)
c.3928A>G (p.Lys1310Glu)
c.9778A>G (p.Lys3260Glu)
c.9658A>G (p.Lys3220Glu)
c.9589A>G (p.Lys3197Glu)
c.7993A>G (p.Lys2665Glu)
n.10129A>G
6g.51746866T>GCA364419728PKHD1c.9853A>C (p.Lys3285Gln)
c.9724A>C (p.Lys3242Gln)
c.9715A>C (p.Lys3239Gln)
c.9211A>C (p.Lys3071Gln)
c.9142A>C (p.Lys3048Gln)
c.9837A>C (p.Ter3279Cys)
c.3928A>C (p.Lys1310Gln)
c.9778A>C (p.Lys3260Gln)
c.9658A>C (p.Lys3220Gln)
c.9589A>C (p.Lys3197Gln)
c.7993A>C (p.Lys2665Gln)
n.10129A>C
6g.51746867C>ACA450412411PKHD1c.9852G>T (p.Val3284=)
c.9723G>T (p.Val3241=)
c.9714G>T (p.Val3238=)
c.9210G>T (p.Val3070=)
c.9141G>T (p.Val3047=)
c.9836G>T (p.Ter3279Leu)
c.3927G>T (p.Val1309=)
c.9777G>T (p.Val3259=)
c.9657G>T (p.Val3219=)
c.9588G>T (p.Val3196=)
c.7992G>T (p.Val2664=)
n.10128G>T
6g.51746867C>GCA450412412PKHD1c.9852G>C (p.Val3284=)
c.9723G>C (p.Val3241=)
c.9714G>C (p.Val3238=)
c.9210G>C (p.Val3070=)
c.9141G>C (p.Val3047=)
c.9836G>C (p.Ter3279Ser)
c.3927G>C (p.Val1309=)
c.9777G>C (p.Val3259=)
c.9657G>C (p.Val3219=)
c.9588G>C (p.Val3196=)
c.7992G>C (p.Val2664=)
n.10128G>C
6g.51746867C>TCA450412413PKHD1c.9852G>A (p.Val3284=)
c.9723G>A (p.Val3241=)
c.9714G>A (p.Val3238=)
c.9210G>A (p.Val3070=)
c.9141G>A (p.Val3047=)
c.9836G>A (p.Ter3279=)
c.3927G>A (p.Val1309=)
c.9777G>A (p.Val3259=)
c.9657G>A (p.Val3219=)
c.9588G>A (p.Val3196=)
c.7992G>A (p.Val2664=)
n.10128G>A
 ClinVar dbSNP gnomAD v4

Number of alleles fetched