Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51747797C>ACA364419963PKHD1c.9819G>T (p.Met3273Ile)
c.9690G>T (p.Met3230Ile)
c.9681G>T (p.Met3227Ile)
c.9177G>T (p.Met3059Ile)
c.9108G>T (p.Met3036Ile)
c.3894G>T (p.Met1298Ile)
c.9744G>T (p.Met3248Ile)
c.9624G>T (p.Met3208Ile)
c.9555G>T (p.Met3185Ile)
c.7959G>T (p.Met2653Ile)
n.10095G>T
6g.51747797C=CA1628501824PKHD1c.9819G= (p.Met3273=)
c.9690G= (p.Met3230=)
c.9681G= (p.Met3227=)
c.9177G= (p.Met3059=)
c.9108G= (p.Met3036=)
c.3894G= (p.Met1298=)
c.9744G= (p.Met3248=)
c.9624G= (p.Met3208=)
c.9555G= (p.Met3185=)
c.7959G= (p.Met2653=)
n.10095G=
6g.51747797C>GCA364419966PKHD1c.9819G>C (p.Met3273Ile)
c.9690G>C (p.Met3230Ile)
c.9681G>C (p.Met3227Ile)
c.9177G>C (p.Met3059Ile)
c.9108G>C (p.Met3036Ile)
c.3894G>C (p.Met1298Ile)
c.9744G>C (p.Met3248Ile)
c.9624G>C (p.Met3208Ile)
c.9555G>C (p.Met3185Ile)
c.7959G>C (p.Met2653Ile)
n.10095G>C
6g.51747797C>TCA364419968PKHD1c.9819G>A (p.Met3273Ile)
c.9690G>A (p.Met3230Ile)
c.9681G>A (p.Met3227Ile)
c.9177G>A (p.Met3059Ile)
c.9108G>A (p.Met3036Ile)
c.3894G>A (p.Met1298Ile)
c.9744G>A (p.Met3248Ile)
c.9624G>A (p.Met3208Ile)
c.9555G>A (p.Met3185Ile)
c.7959G>A (p.Met2653Ile)
n.10095G>A
 dbSNP gnomAD v3 gnomAD v4
6g.51747798A>CCA364419971PKHD1c.9818T>G (p.Met3273Arg)
c.9689T>G (p.Met3230Arg)
c.9680T>G (p.Met3227Arg)
c.9176T>G (p.Met3059Arg)
c.9107T>G (p.Met3036Arg)
c.3893T>G (p.Met1298Arg)
c.9743T>G (p.Met3248Arg)
c.9623T>G (p.Met3208Arg)
c.9554T>G (p.Met3185Arg)
c.7958T>G (p.Met2653Arg)
n.10094T>G
6g.51747798A>GCA364419973PKHD1c.9818T>C (p.Met3273Thr)
c.9689T>C (p.Met3230Thr)
c.9680T>C (p.Met3227Thr)
c.9176T>C (p.Met3059Thr)
c.9107T>C (p.Met3036Thr)
c.3893T>C (p.Met1298Thr)
c.9743T>C (p.Met3248Thr)
c.9623T>C (p.Met3208Thr)
c.9554T>C (p.Met3185Thr)
c.7958T>C (p.Met2653Thr)
n.10094T>C
 gnomAD v4
6g.51747798A>TCA364419970PKHD1c.9818T>A (p.Met3273Lys)
c.9689T>A (p.Met3230Lys)
c.9680T>A (p.Met3227Lys)
c.9176T>A (p.Met3059Lys)
c.9107T>A (p.Met3036Lys)
c.3893T>A (p.Met1298Lys)
c.9743T>A (p.Met3248Lys)
c.9623T>A (p.Met3208Lys)
c.9554T>A (p.Met3185Lys)
c.7958T>A (p.Met2653Lys)
n.10094T>A
6g.51747799T>ACA364419975PKHD1c.9817A>T (p.Met3273Leu)
c.9688A>T (p.Met3230Leu)
c.9679A>T (p.Met3227Leu)
c.9175A>T (p.Met3059Leu)
c.9106A>T (p.Met3036Leu)
c.3892A>T (p.Met1298Leu)
c.9742A>T (p.Met3248Leu)
c.9622A>T (p.Met3208Leu)
c.9553A>T (p.Met3185Leu)
c.7957A>T (p.Met2653Leu)
n.10093A>T
6g.51747799T>CCA364419978PKHD1c.9817A>G (p.Met3273Val)
c.9688A>G (p.Met3230Val)
c.9679A>G (p.Met3227Val)
c.9175A>G (p.Met3059Val)
c.9106A>G (p.Met3036Val)
c.3892A>G (p.Met1298Val)
c.9742A>G (p.Met3248Val)
c.9622A>G (p.Met3208Val)
c.9553A>G (p.Met3185Val)
c.7957A>G (p.Met2653Val)
n.10093A>G
6g.51747799T>GCA364419979PKHD1c.9817A>C (p.Met3273Leu)
c.9688A>C (p.Met3230Leu)
c.9679A>C (p.Met3227Leu)
c.9175A>C (p.Met3059Leu)
c.9106A>C (p.Met3036Leu)
c.3892A>C (p.Met1298Leu)
c.9742A>C (p.Met3248Leu)
c.9622A>C (p.Met3208Leu)
c.9553A>C (p.Met3185Leu)
c.7957A>C (p.Met2653Leu)
n.10093A>C
 ClinVar dbSNP gnomAD v4
6g.51747799T=CA1628501829PKHD1c.9817A= (p.Met3273=)
c.9688A= (p.Met3230=)
c.9679A= (p.Met3227=)
c.9175A= (p.Met3059=)
c.9106A= (p.Met3036=)
c.3892A= (p.Met1298=)
c.9742A= (p.Met3248=)
c.9622A= (p.Met3208=)
c.9553A= (p.Met3185=)
c.7957A= (p.Met2653=)
n.10093A=
6g.51747800G>ACA450613382PKHD1c.9816C>T (p.Ile3272=)
c.9687C>T (p.Ile3229=)
c.9678C>T (p.Ile3226=)
c.9174C>T (p.Ile3058=)
c.9105C>T (p.Ile3035=)
c.3891C>T (p.Ile1297=)
c.9741C>T (p.Ile3247=)
c.9621C>T (p.Ile3207=)
c.9552C>T (p.Ile3184=)
c.7956C>T (p.Ile2652=)
n.10092C>T
 COSMIC COSMIC
6g.51747800G>CCA364419981PKHD1c.9816C>G (p.Ile3272Met)
c.9687C>G (p.Ile3229Met)
c.9678C>G (p.Ile3226Met)
c.9174C>G (p.Ile3058Met)
c.9105C>G (p.Ile3035Met)
c.3891C>G (p.Ile1297Met)
c.9741C>G (p.Ile3247Met)
c.9621C>G (p.Ile3207Met)
c.9552C>G (p.Ile3184Met)
c.7956C>G (p.Ile2652Met)
n.10092C>G
6g.51747800G>TCA450613385PKHD1c.9816C>A (p.Ile3272=)
c.9687C>A (p.Ile3229=)
c.9678C>A (p.Ile3226=)
c.9174C>A (p.Ile3058=)
c.9105C>A (p.Ile3035=)
c.3891C>A (p.Ile1297=)
c.9741C>A (p.Ile3247=)
c.9621C>A (p.Ile3207=)
c.9552C>A (p.Ile3184=)
c.7956C>A (p.Ile2652=)
n.10092C>A
6g.51747801A>CCA364419983PKHD1c.9815T>G (p.Ile3272Ser)
c.9686T>G (p.Ile3229Ser)
c.9677T>G (p.Ile3226Ser)
c.9173T>G (p.Ile3058Ser)
c.9104T>G (p.Ile3035Ser)
c.3890T>G (p.Ile1297Ser)
c.9740T>G (p.Ile3247Ser)
c.9620T>G (p.Ile3207Ser)
c.9551T>G (p.Ile3184Ser)
c.7955T>G (p.Ile2652Ser)
n.10091T>G
6g.51747801A>GCA364419985PKHD1c.9815T>C (p.Ile3272Thr)
c.9686T>C (p.Ile3229Thr)
c.9677T>C (p.Ile3226Thr)
c.9173T>C (p.Ile3058Thr)
c.9104T>C (p.Ile3035Thr)
c.3890T>C (p.Ile1297Thr)
c.9740T>C (p.Ile3247Thr)
c.9620T>C (p.Ile3207Thr)
c.9551T>C (p.Ile3184Thr)
c.7955T>C (p.Ile2652Thr)
n.10091T>C
6g.51747801A>TCA364419986PKHD1c.9815T>A (p.Ile3272Asn)
c.9686T>A (p.Ile3229Asn)
c.9677T>A (p.Ile3226Asn)
c.9173T>A (p.Ile3058Asn)
c.9104T>A (p.Ile3035Asn)
c.3890T>A (p.Ile1297Asn)
c.9740T>A (p.Ile3247Asn)
c.9620T>A (p.Ile3207Asn)
c.9551T>A (p.Ile3184Asn)
c.7955T>A (p.Ile2652Asn)
n.10091T>A
6g.51747802T>ACA364419988PKHD1c.9814A>T (p.Ile3272Phe)
c.9685A>T (p.Ile3229Phe)
c.9676A>T (p.Ile3226Phe)
c.9172A>T (p.Ile3058Phe)
c.9103A>T (p.Ile3035Phe)
c.3889A>T (p.Ile1297Phe)
c.9739A>T (p.Ile3247Phe)
c.9619A>T (p.Ile3207Phe)
c.9550A>T (p.Ile3184Phe)
c.7954A>T (p.Ile2652Phe)
n.10090A>T
6g.51747802T>CCA364419990PKHD1c.9814A>G (p.Ile3272Val)
c.9685A>G (p.Ile3229Val)
c.9676A>G (p.Ile3226Val)
c.9172A>G (p.Ile3058Val)
c.9103A>G (p.Ile3035Val)
c.3889A>G (p.Ile1297Val)
c.9739A>G (p.Ile3247Val)
c.9619A>G (p.Ile3207Val)
c.9550A>G (p.Ile3184Val)
c.7954A>G (p.Ile2652Val)
n.10090A>G
 dbSNP gnomAD v2 gnomAD v4
6g.51747802T>GCA364419992PKHD1c.9814A>C (p.Ile3272Leu)
c.9685A>C (p.Ile3229Leu)
c.9676A>C (p.Ile3226Leu)
c.9172A>C (p.Ile3058Leu)
c.9103A>C (p.Ile3035Leu)
c.3889A>C (p.Ile1297Leu)
c.9739A>C (p.Ile3247Leu)
c.9619A>C (p.Ile3207Leu)
c.9550A>C (p.Ile3184Leu)
c.7954A>C (p.Ile2652Leu)
n.10090A>C
6g.51747802T=CA1628501834PKHD1c.9814A= (p.Ile3272=)
c.9685A= (p.Ile3229=)
c.9676A= (p.Ile3226=)
c.9172A= (p.Ile3058=)
c.9103A= (p.Ile3035=)
c.3889A= (p.Ile1297=)
c.9739A= (p.Ile3247=)
c.9619A= (p.Ile3207=)
c.9550A= (p.Ile3184=)
c.7954A= (p.Ile2652=)
n.10090A=
6g.51747803T>ACA450613386PKHD1c.9813A>T (p.Gly3271=)
c.9684A>T (p.Gly3228=)
c.9675A>T (p.Gly3225=)
c.9171A>T (p.Gly3057=)
c.9102A>T (p.Gly3034=)
c.3888A>T (p.Gly1296=)
c.9738A>T (p.Gly3246=)
c.9618A>T (p.Gly3206=)
c.9549A>T (p.Gly3183=)
c.7953A>T (p.Gly2651=)
n.10089A>T
6g.51747803T>CCA450613387PKHD1c.9813A>G (p.Gly3271=)
c.9684A>G (p.Gly3228=)
c.9675A>G (p.Gly3225=)
c.9171A>G (p.Gly3057=)
c.9102A>G (p.Gly3034=)
c.3888A>G (p.Gly1296=)
c.9738A>G (p.Gly3246=)
c.9618A>G (p.Gly3206=)
c.9549A>G (p.Gly3183=)
c.7953A>G (p.Gly2651=)
n.10089A>G
6g.51747803T>GCA450613388PKHD1c.9813A>C (p.Gly3271=)
c.9684A>C (p.Gly3228=)
c.9675A>C (p.Gly3225=)
c.9171A>C (p.Gly3057=)
c.9102A>C (p.Gly3034=)
c.3888A>C (p.Gly1296=)
c.9738A>C (p.Gly3246=)
c.9618A>C (p.Gly3206=)
c.9549A>C (p.Gly3183=)
c.7953A>C (p.Gly2651=)
n.10089A>C
6g.51747804C>ACA364419995PKHD1c.9812G>T (p.Gly3271Val)
c.9683G>T (p.Gly3228Val)
c.9674G>T (p.Gly3225Val)
c.9170G>T (p.Gly3057Val)
c.9101G>T (p.Gly3034Val)
c.3887G>T (p.Gly1296Val)
c.9737G>T (p.Gly3246Val)
c.9617G>T (p.Gly3206Val)
c.9548G>T (p.Gly3183Val)
c.7952G>T (p.Gly2651Val)
n.10088G>T
6g.51747804C>GCA364419997PKHD1c.9812G>C (p.Gly3271Ala)
c.9683G>C (p.Gly3228Ala)
c.9674G>C (p.Gly3225Ala)
c.9170G>C (p.Gly3057Ala)
c.9101G>C (p.Gly3034Ala)
c.3887G>C (p.Gly1296Ala)
c.9737G>C (p.Gly3246Ala)
c.9617G>C (p.Gly3206Ala)
c.9548G>C (p.Gly3183Ala)
c.7952G>C (p.Gly2651Ala)
n.10088G>C
 gnomAD v4
6g.51747804C>TCA364419998PKHD1c.9812G>A (p.Gly3271Glu)
c.9683G>A (p.Gly3228Glu)
c.9674G>A (p.Gly3225Glu)
c.9170G>A (p.Gly3057Glu)
c.9101G>A (p.Gly3034Glu)
c.3887G>A (p.Gly1296Glu)
c.9737G>A (p.Gly3246Glu)
c.9617G>A (p.Gly3206Glu)
c.9548G>A (p.Gly3183Glu)
c.7952G>A (p.Gly2651Glu)
n.10088G>A
 COSMIC COSMIC
6g.51747805C>ACA364420005PKHD1c.9811G>T (p.Gly3271Ter)
c.9682G>T (p.Gly3228Ter)
c.9673G>T (p.Gly3225Ter)
c.9169G>T (p.Gly3057Ter)
c.9100G>T (p.Gly3034Ter)
c.3886G>T (p.Gly1296Ter)
c.9736G>T (p.Gly3246Ter)
c.9616G>T (p.Gly3206Ter)
c.9547G>T (p.Gly3183Ter)
c.7951G>T (p.Gly2651Ter)
n.10087G>T
6g.51747805C>GCA364420004PKHD1c.9811G>C (p.Gly3271Arg)
c.9682G>C (p.Gly3228Arg)
c.9673G>C (p.Gly3225Arg)
c.9169G>C (p.Gly3057Arg)
c.9100G>C (p.Gly3034Arg)
c.3886G>C (p.Gly1296Arg)
c.9736G>C (p.Gly3246Arg)
c.9616G>C (p.Gly3206Arg)
c.9547G>C (p.Gly3183Arg)
c.7951G>C (p.Gly2651Arg)
n.10087G>C
6g.51747805C>TCA364420002PKHD1c.9811G>A (p.Gly3271Arg)
c.9682G>A (p.Gly3228Arg)
c.9673G>A (p.Gly3225Arg)
c.9169G>A (p.Gly3057Arg)
c.9100G>A (p.Gly3034Arg)
c.3886G>A (p.Gly1296Arg)
c.9736G>A (p.Gly3246Arg)
c.9616G>A (p.Gly3206Arg)
c.9547G>A (p.Gly3183Arg)
c.7951G>A (p.Gly2651Arg)
n.10087G>A
6g.51747806T>ACA450613391PKHD1c.9810A>T (p.Ser3270=)
c.9681A>T (p.Ser3227=)
c.9672A>T (p.Ser3224=)
c.9168A>T (p.Ser3056=)
c.9099A>T (p.Ser3033=)
c.3885A>T (p.Ser1295=)
c.9735A>T (p.Ser3245=)
c.9615A>T (p.Ser3205=)
c.9546A>T (p.Ser3182=)
c.7950A>T (p.Ser2650=)
n.10086A>T
6g.51747806T>CCA450613392PKHD1c.9810A>G (p.Ser3270=)
c.9681A>G (p.Ser3227=)
c.9672A>G (p.Ser3224=)
c.9168A>G (p.Ser3056=)
c.9099A>G (p.Ser3033=)
c.3885A>G (p.Ser1295=)
c.9735A>G (p.Ser3245=)
c.9615A>G (p.Ser3205=)
c.9546A>G (p.Ser3182=)
c.7950A>G (p.Ser2650=)
n.10086A>G
6g.51747806T>GCA450613394PKHD1c.9810A>C (p.Ser3270=)
c.9681A>C (p.Ser3227=)
c.9672A>C (p.Ser3224=)
c.9168A>C (p.Ser3056=)
c.9099A>C (p.Ser3033=)
c.3885A>C (p.Ser1295=)
c.9735A>C (p.Ser3245=)
c.9615A>C (p.Ser3205=)
c.9546A>C (p.Ser3182=)
c.7950A>C (p.Ser2650=)
n.10086A>C
6g.51747807G>ACA364420006PKHD1c.9809C>T (p.Ser3270Leu)
c.9680C>T (p.Ser3227Leu)
c.9671C>T (p.Ser3224Leu)
c.9167C>T (p.Ser3056Leu)
c.9098C>T (p.Ser3033Leu)
c.3884C>T (p.Ser1295Leu)
c.9734C>T (p.Ser3245Leu)
c.9614C>T (p.Ser3205Leu)
c.9545C>T (p.Ser3182Leu)
c.7949C>T (p.Ser2650Leu)
n.10085C>T
 dbSNP gnomAD v3 gnomAD v4
6g.51747807G>CCA364420007PKHD1c.9809C>G (p.Ser3270Ter)
c.9680C>G (p.Ser3227Ter)
c.9671C>G (p.Ser3224Ter)
c.9167C>G (p.Ser3056Ter)
c.9098C>G (p.Ser3033Ter)
c.3884C>G (p.Ser1295Ter)
c.9734C>G (p.Ser3245Ter)
c.9614C>G (p.Ser3205Ter)
c.9545C>G (p.Ser3182Ter)
c.7949C>G (p.Ser2650Ter)
n.10085C>G
6g.51747807G=CA1628501837PKHD1c.9809C= (p.Ser3270=)
c.9680C= (p.Ser3227=)
c.9671C= (p.Ser3224=)
c.9167C= (p.Ser3056=)
c.9098C= (p.Ser3033=)
c.3884C= (p.Ser1295=)
c.9734C= (p.Ser3245=)
c.9614C= (p.Ser3205=)
c.9545C= (p.Ser3182=)
c.7949C= (p.Ser2650=)
n.10085C=
6g.51747807G>TCA364420009PKHD1c.9809C>A (p.Ser3270Ter)
c.9680C>A (p.Ser3227Ter)
c.9671C>A (p.Ser3224Ter)
c.9167C>A (p.Ser3056Ter)
c.9098C>A (p.Ser3033Ter)
c.3884C>A (p.Ser1295Ter)
c.9734C>A (p.Ser3245Ter)
c.9614C>A (p.Ser3205Ter)
c.9545C>A (p.Ser3182Ter)
c.7949C>A (p.Ser2650Ter)
n.10085C>A
6g.51747808A>CCA364420012PKHD1c.9808T>G (p.Ser3270Ala)
c.9679T>G (p.Ser3227Ala)
c.9670T>G (p.Ser3224Ala)
c.9166T>G (p.Ser3056Ala)
c.9097T>G (p.Ser3033Ala)
c.3883T>G (p.Ser1295Ala)
c.9733T>G (p.Ser3245Ala)
c.9613T>G (p.Ser3205Ala)
c.9544T>G (p.Ser3182Ala)
c.7948T>G (p.Ser2650Ala)
n.10084T>G
6g.51747808A>GCA364420019PKHD1c.9808T>C (p.Ser3270Pro)
c.9679T>C (p.Ser3227Pro)
c.9670T>C (p.Ser3224Pro)
c.9166T>C (p.Ser3056Pro)
c.9097T>C (p.Ser3033Pro)
c.3883T>C (p.Ser1295Pro)
c.9733T>C (p.Ser3245Pro)
c.9613T>C (p.Ser3205Pro)
c.9544T>C (p.Ser3182Pro)
c.7948T>C (p.Ser2650Pro)
n.10084T>C
6g.51747808A>TCA364420021PKHD1c.9808T>A (p.Ser3270Thr)
c.9679T>A (p.Ser3227Thr)
c.9670T>A (p.Ser3224Thr)
c.9166T>A (p.Ser3056Thr)
c.9097T>A (p.Ser3033Thr)
c.3883T>A (p.Ser1295Thr)
c.9733T>A (p.Ser3245Thr)
c.9613T>A (p.Ser3205Thr)
c.9544T>A (p.Ser3182Thr)
c.7948T>A (p.Ser2650Thr)
n.10084T>A
6g.51747809A>CCA364420023PKHD1c.9807T>G (p.Ile3269Met)
c.9678T>G (p.Ile3226Met)
c.9669T>G (p.Ile3223Met)
c.9165T>G (p.Ile3055Met)
c.9096T>G (p.Ile3032Met)
c.3882T>G (p.Ile1294Met)
c.9732T>G (p.Ile3244Met)
c.9612T>G (p.Ile3204Met)
c.9543T>G (p.Ile3181Met)
c.7947T>G (p.Ile2649Met)
n.10083T>G
6g.51747809A>GCA450613399PKHD1c.9807T>C (p.Ile3269=)
c.9678T>C (p.Ile3226=)
c.9669T>C (p.Ile3223=)
c.9165T>C (p.Ile3055=)
c.9096T>C (p.Ile3032=)
c.3882T>C (p.Ile1294=)
c.9732T>C (p.Ile3244=)
c.9612T>C (p.Ile3204=)
c.9543T>C (p.Ile3181=)
c.7947T>C (p.Ile2649=)
n.10083T>C
6g.51747809A>TCA450613398PKHD1c.9807T>A (p.Ile3269=)
c.9678T>A (p.Ile3226=)
c.9669T>A (p.Ile3223=)
c.9165T>A (p.Ile3055=)
c.9096T>A (p.Ile3032=)
c.3882T>A (p.Ile1294=)
c.9732T>A (p.Ile3244=)
c.9612T>A (p.Ile3204=)
c.9543T>A (p.Ile3181=)
c.7947T>A (p.Ile2649=)
n.10083T>A
6g.51747810A>CCA364420026PKHD1c.9806T>G (p.Ile3269Ser)
c.9677T>G (p.Ile3226Ser)
c.9668T>G (p.Ile3223Ser)
c.9164T>G (p.Ile3055Ser)
c.9095T>G (p.Ile3032Ser)
c.3881T>G (p.Ile1294Ser)
c.9731T>G (p.Ile3244Ser)
c.9611T>G (p.Ile3204Ser)
c.9542T>G (p.Ile3181Ser)
c.7946T>G (p.Ile2649Ser)
n.10082T>G
6g.51747810A>GCA364420027PKHD1c.9806T>C (p.Ile3269Thr)
c.9677T>C (p.Ile3226Thr)
c.9668T>C (p.Ile3223Thr)
c.9164T>C (p.Ile3055Thr)
c.9095T>C (p.Ile3032Thr)
c.3881T>C (p.Ile1294Thr)
c.9731T>C (p.Ile3244Thr)
c.9611T>C (p.Ile3204Thr)
c.9542T>C (p.Ile3181Thr)
c.7946T>C (p.Ile2649Thr)
n.10082T>C
6g.51747810A>TCA364420029PKHD1c.9806T>A (p.Ile3269Asn)
c.9677T>A (p.Ile3226Asn)
c.9668T>A (p.Ile3223Asn)
c.9164T>A (p.Ile3055Asn)
c.9095T>A (p.Ile3032Asn)
c.3881T>A (p.Ile1294Asn)
c.9731T>A (p.Ile3244Asn)
c.9611T>A (p.Ile3204Asn)
c.9542T>A (p.Ile3181Asn)
c.7946T>A (p.Ile2649Asn)
n.10082T>A
6g.51747811T>ACA364420030PKHD1c.9805A>T (p.Ile3269Phe)
c.9676A>T (p.Ile3226Phe)
c.9667A>T (p.Ile3223Phe)
c.9163A>T (p.Ile3055Phe)
c.9094A>T (p.Ile3032Phe)
c.3880A>T (p.Ile1294Phe)
c.9730A>T (p.Ile3244Phe)
c.9610A>T (p.Ile3204Phe)
c.9541A>T (p.Ile3181Phe)
c.7945A>T (p.Ile2649Phe)
n.10081A>T
6g.51747811T>CCA364420031PKHD1c.9805A>G (p.Ile3269Val)
c.9676A>G (p.Ile3226Val)
c.9667A>G (p.Ile3223Val)
c.9163A>G (p.Ile3055Val)
c.9094A>G (p.Ile3032Val)
c.3880A>G (p.Ile1294Val)
c.9730A>G (p.Ile3244Val)
c.9610A>G (p.Ile3204Val)
c.9541A>G (p.Ile3181Val)
c.7945A>G (p.Ile2649Val)
n.10081A>G
 gnomAD v4
6g.51747811T>GCA364420032PKHD1c.9805A>C (p.Ile3269Leu)
c.9676A>C (p.Ile3226Leu)
c.9667A>C (p.Ile3223Leu)
c.9163A>C (p.Ile3055Leu)
c.9094A>C (p.Ile3032Leu)
c.3880A>C (p.Ile1294Leu)
c.9730A>C (p.Ile3244Leu)
c.9610A>C (p.Ile3204Leu)
c.9541A>C (p.Ile3181Leu)
c.7945A>C (p.Ile2649Leu)
n.10081A>C
6g.51747812T>ACA450613406PKHD1c.9804A>T (p.Ser3268=)
c.9675A>T (p.Ser3225=)
c.9666A>T (p.Ser3222=)
c.9162A>T (p.Ser3054=)
c.9093A>T (p.Ser3031=)
c.3879A>T (p.Ser1293=)
c.9729A>T (p.Ser3243=)
c.9609A>T (p.Ser3203=)
c.9540A>T (p.Ser3180=)
c.7944A>T (p.Ser2648=)
n.10080A>T
 ClinVar
6g.51747812T>CCA450613408PKHD1c.9804A>G (p.Ser3268=)
c.9675A>G (p.Ser3225=)
c.9666A>G (p.Ser3222=)
c.9162A>G (p.Ser3054=)
c.9093A>G (p.Ser3031=)
c.3879A>G (p.Ser1293=)
c.9729A>G (p.Ser3243=)
c.9609A>G (p.Ser3203=)
c.9540A>G (p.Ser3180=)
c.7944A>G (p.Ser2648=)
n.10080A>G
6g.51747812T>GCA450613410PKHD1c.9804A>C (p.Ser3268=)
c.9675A>C (p.Ser3225=)
c.9666A>C (p.Ser3222=)
c.9162A>C (p.Ser3054=)
c.9093A>C (p.Ser3031=)
c.3879A>C (p.Ser1293=)
c.9729A>C (p.Ser3243=)
c.9609A>C (p.Ser3203=)
c.9540A>C (p.Ser3180=)
c.7944A>C (p.Ser2648=)
n.10080A>C
6g.51747813G>ACA364420033PKHD1c.9803C>T (p.Ser3268Leu)
c.9674C>T (p.Ser3225Leu)
c.9665C>T (p.Ser3222Leu)
c.9161C>T (p.Ser3054Leu)
c.9092C>T (p.Ser3031Leu)
c.3878C>T (p.Ser1293Leu)
c.9728C>T (p.Ser3243Leu)
c.9608C>T (p.Ser3203Leu)
c.9539C>T (p.Ser3180Leu)
c.7943C>T (p.Ser2648Leu)
n.10079C>T
6g.51747813G>CCA364420036PKHD1c.9803C>G (p.Ser3268Ter)
c.9674C>G (p.Ser3225Ter)
c.9665C>G (p.Ser3222Ter)
c.9161C>G (p.Ser3054Ter)
c.9092C>G (p.Ser3031Ter)
c.3878C>G (p.Ser1293Ter)
c.9728C>G (p.Ser3243Ter)
c.9608C>G (p.Ser3203Ter)
c.9539C>G (p.Ser3180Ter)
c.7943C>G (p.Ser2648Ter)
n.10079C>G
6g.51747813G>TCA364420034PKHD1c.9803C>A (p.Ser3268Ter)
c.9674C>A (p.Ser3225Ter)
c.9665C>A (p.Ser3222Ter)
c.9161C>A (p.Ser3054Ter)
c.9092C>A (p.Ser3031Ter)
c.3878C>A (p.Ser1293Ter)
c.9728C>A (p.Ser3243Ter)
c.9608C>A (p.Ser3203Ter)
c.9539C>A (p.Ser3180Ter)
c.7943C>A (p.Ser2648Ter)
n.10079C>A
6g.51747814A>CCA364420038PKHD1c.9802T>G (p.Ser3268Ala)
c.9673T>G (p.Ser3225Ala)
c.9664T>G (p.Ser3222Ala)
c.9160T>G (p.Ser3054Ala)
c.9091T>G (p.Ser3031Ala)
c.3877T>G (p.Ser1293Ala)
c.9727T>G (p.Ser3243Ala)
c.9607T>G (p.Ser3203Ala)
c.9538T>G (p.Ser3180Ala)
c.7942T>G (p.Ser2648Ala)
n.10078T>G
6g.51747814A>GCA364420042PKHD1c.9802T>C (p.Ser3268Pro)
c.9673T>C (p.Ser3225Pro)
c.9664T>C (p.Ser3222Pro)
c.9160T>C (p.Ser3054Pro)
c.9091T>C (p.Ser3031Pro)
c.3877T>C (p.Ser1293Pro)
c.9727T>C (p.Ser3243Pro)
c.9607T>C (p.Ser3203Pro)
c.9538T>C (p.Ser3180Pro)
c.7942T>C (p.Ser2648Pro)
n.10078T>C
6g.51747814A>TCA364420040PKHD1c.9802T>A (p.Ser3268Thr)
c.9673T>A (p.Ser3225Thr)
c.9664T>A (p.Ser3222Thr)
c.9160T>A (p.Ser3054Thr)
c.9091T>A (p.Ser3031Thr)
c.3877T>A (p.Ser1293Thr)
c.9727T>A (p.Ser3243Thr)
c.9607T>A (p.Ser3203Thr)
c.9538T>A (p.Ser3180Thr)
c.7942T>A (p.Ser2648Thr)
n.10078T>A
6g.51747815delCA2695206422PKHD1c.9802del (p.Ser3268GlnfsTer6)
c.9673del (p.Ser3225GlnfsTer6)
c.9664del (p.Ser3222GlnfsTer6)
c.9160del (p.Ser3054GlnfsTer6)
c.9091del (p.Ser3031GlnfsTer6)
c.3877del (p.Ser1293GlnfsTer6)
c.9727del (p.Ser3243GlnfsTer6)
c.9607del (p.Ser3203GlnfsTer6)
c.9538del (p.Ser3180GlnfsTer6)
c.7942del (p.Ser2648GlnfsTer6)
n.10078del
6g.51747815A>CCA364420044PKHD1c.9801T>G (p.His3267Gln)
c.9672T>G (p.His3224Gln)
c.9663T>G (p.His3221Gln)
c.9159T>G (p.His3053Gln)
c.9090T>G (p.His3030Gln)
c.3876T>G (p.His1292Gln)
c.9726T>G (p.His3242Gln)
c.9606T>G (p.His3202Gln)
c.9537T>G (p.His3179Gln)
c.7941T>G (p.His2647Gln)
n.10077T>G
6g.51747815A>GCA450613415PKHD1c.9801T>C (p.His3267=)
c.9672T>C (p.His3224=)
c.9663T>C (p.His3221=)
c.9159T>C (p.His3053=)
c.9090T>C (p.His3030=)
c.3876T>C (p.His1292=)
c.9726T>C (p.His3242=)
c.9606T>C (p.His3202=)
c.9537T>C (p.His3179=)
c.7941T>C (p.His2647=)
n.10077T>C
 ClinVar
6g.51747815A>TCA364420046PKHD1c.9801T>A (p.His3267Gln)
c.9672T>A (p.His3224Gln)
c.9663T>A (p.His3221Gln)
c.9159T>A (p.His3053Gln)
c.9090T>A (p.His3030Gln)
c.3876T>A (p.His1292Gln)
c.9726T>A (p.His3242Gln)
c.9606T>A (p.His3202Gln)
c.9537T>A (p.His3179Gln)
c.7941T>A (p.His2647Gln)
n.10077T>A
6g.51747816T>ACA364420048PKHD1c.9800A>T (p.His3267Leu)
c.9671A>T (p.His3224Leu)
c.9662A>T (p.His3221Leu)
c.9158A>T (p.His3053Leu)
c.9089A>T (p.His3030Leu)
c.3875A>T (p.His1292Leu)
c.9725A>T (p.His3242Leu)
c.9605A>T (p.His3202Leu)
c.9536A>T (p.His3179Leu)
c.7940A>T (p.His2647Leu)
n.10076A>T
6g.51747816T>CCA138895799PKHD1c.9800A>G (p.His3267Arg)
c.9671A>G (p.His3224Arg)
c.9662A>G (p.His3221Arg)
c.9158A>G (p.His3053Arg)
c.9089A>G (p.His3030Arg)
c.3875A>G (p.His1292Arg)
c.9725A>G (p.His3242Arg)
c.9605A>G (p.His3202Arg)
c.9536A>G (p.His3179Arg)
c.7940A>G (p.His2647Arg)
n.10076A>G
 dbSNP
6g.51747816T>GCA364420051PKHD1c.9800A>C (p.His3267Pro)
c.9671A>C (p.His3224Pro)
c.9662A>C (p.His3221Pro)
c.9158A>C (p.His3053Pro)
c.9089A>C (p.His3030Pro)
c.3875A>C (p.His1292Pro)
c.9725A>C (p.His3242Pro)
c.9605A>C (p.His3202Pro)
c.9536A>C (p.His3179Pro)
c.7940A>C (p.His2647Pro)
n.10076A>C
6g.51747816T=CA1628501843PKHD1c.9800A= (p.His3267=)
c.9671A= (p.His3224=)
c.9662A= (p.His3221=)
c.9158A= (p.His3053=)
c.9089A= (p.His3030=)
c.3875A= (p.His1292=)
c.9725A= (p.His3242=)
c.9605A= (p.His3202=)
c.9536A= (p.His3179=)
c.7940A= (p.His2647=)
n.10076A=
6g.51747817G>ACA364420053PKHD1c.9799C>T (p.His3267Tyr)
c.9670C>T (p.His3224Tyr)
c.9661C>T (p.His3221Tyr)
c.9157C>T (p.His3053Tyr)
c.9088C>T (p.His3030Tyr)
c.3874C>T (p.His1292Tyr)
c.9724C>T (p.His3242Tyr)
c.9604C>T (p.His3202Tyr)
c.9535C>T (p.His3179Tyr)
c.7939C>T (p.His2647Tyr)
n.10075C>T
6g.51747817G>CCA364420054PKHD1c.9799C>G (p.His3267Asp)
c.9670C>G (p.His3224Asp)
c.9661C>G (p.His3221Asp)
c.9157C>G (p.His3053Asp)
c.9088C>G (p.His3030Asp)
c.3874C>G (p.His1292Asp)
c.9724C>G (p.His3242Asp)
c.9604C>G (p.His3202Asp)
c.9535C>G (p.His3179Asp)
c.7939C>G (p.His2647Asp)
n.10075C>G
6g.51747817G>TCA364420057PKHD1c.9799C>A (p.His3267Asn)
c.9670C>A (p.His3224Asn)
c.9661C>A (p.His3221Asn)
c.9157C>A (p.His3053Asn)
c.9088C>A (p.His3030Asn)
c.3874C>A (p.His1292Asn)
c.9724C>A (p.His3242Asn)
c.9604C>A (p.His3202Asn)
c.9535C>A (p.His3179Asn)
c.7939C>A (p.His2647Asn)
n.10075C>A
6g.51747818A=CA1628501847PKHD1c.9798T= (p.Asp3266=)
c.9669T= (p.Asp3223=)
c.9660T= (p.Asp3220=)
c.9156T= (p.Asp3052=)
c.9087T= (p.Asp3029=)
c.3873T= (p.Asp1291=)
c.9723T= (p.Asp3241=)
c.9603T= (p.Asp3201=)
c.9534T= (p.Asp3178=)
c.7938T= (p.Asp2646=)
n.10074T=
6g.51747818A>CCA364420063PKHD1c.9798T>G (p.Asp3266Glu)
c.9669T>G (p.Asp3223Glu)
c.9660T>G (p.Asp3220Glu)
c.9156T>G (p.Asp3052Glu)
c.9087T>G (p.Asp3029Glu)
c.3873T>G (p.Asp1291Glu)
c.9723T>G (p.Asp3241Glu)
c.9603T>G (p.Asp3201Glu)
c.9534T>G (p.Asp3178Glu)
c.7938T>G (p.Asp2646Glu)
n.10074T>G
6g.51747818A>GCA450613418PKHD1c.9798T>C (p.Asp3266=)
c.9669T>C (p.Asp3223=)
c.9660T>C (p.Asp3220=)
c.9156T>C (p.Asp3052=)
c.9087T>C (p.Asp3029=)
c.3873T>C (p.Asp1291=)
c.9723T>C (p.Asp3241=)
c.9603T>C (p.Asp3201=)
c.9534T>C (p.Asp3178=)
c.7938T>C (p.Asp2646=)
n.10074T>C
 dbSNP gnomAD v2 gnomAD v4
6g.51747818A>TCA364420065PKHD1c.9798T>A (p.Asp3266Glu)
c.9669T>A (p.Asp3223Glu)
c.9660T>A (p.Asp3220Glu)
c.9156T>A (p.Asp3052Glu)
c.9087T>A (p.Asp3029Glu)
c.3873T>A (p.Asp1291Glu)
c.9723T>A (p.Asp3241Glu)
c.9603T>A (p.Asp3201Glu)
c.9534T>A (p.Asp3178Glu)
c.7938T>A (p.Asp2646Glu)
n.10074T>A
6g.51747819T>ACA364420067PKHD1c.9797A>T (p.Asp3266Val)
c.9668A>T (p.Asp3223Val)
c.9659A>T (p.Asp3220Val)
c.9155A>T (p.Asp3052Val)
c.9086A>T (p.Asp3029Val)
c.3872A>T (p.Asp1291Val)
c.9722A>T (p.Asp3241Val)
c.9602A>T (p.Asp3201Val)
c.9533A>T (p.Asp3178Val)
c.7937A>T (p.Asp2646Val)
n.10073A>T
6g.51747819T>CCA364420069PKHD1c.9797A>G (p.Asp3266Gly)
c.9668A>G (p.Asp3223Gly)
c.9659A>G (p.Asp3220Gly)
c.9155A>G (p.Asp3052Gly)
c.9086A>G (p.Asp3029Gly)
c.3872A>G (p.Asp1291Gly)
c.9722A>G (p.Asp3241Gly)
c.9602A>G (p.Asp3201Gly)
c.9533A>G (p.Asp3178Gly)
c.7937A>G (p.Asp2646Gly)
n.10073A>G
6g.51747819T>GCA364420071PKHD1c.9797A>C (p.Asp3266Ala)
c.9668A>C (p.Asp3223Ala)
c.9659A>C (p.Asp3220Ala)
c.9155A>C (p.Asp3052Ala)
c.9086A>C (p.Asp3029Ala)
c.3872A>C (p.Asp1291Ala)
c.9722A>C (p.Asp3241Ala)
c.9602A>C (p.Asp3201Ala)
c.9533A>C (p.Asp3178Ala)
c.7937A>C (p.Asp2646Ala)
n.10073A>C
6g.51747820C>ACA364420081PKHD1c.9796G>T (p.Asp3266Tyr)
c.9667G>T (p.Asp3223Tyr)
c.9658G>T (p.Asp3220Tyr)
c.9154G>T (p.Asp3052Tyr)
c.9085G>T (p.Asp3029Tyr)
c.3871G>T (p.Asp1291Tyr)
c.9721G>T (p.Asp3241Tyr)
c.9601G>T (p.Asp3201Tyr)
c.9532G>T (p.Asp3178Tyr)
c.7936G>T (p.Asp2646Tyr)
n.10072G>T
 COSMIC COSMIC
6g.51747820C>GCA364420073PKHD1c.9796G>C (p.Asp3266His)
c.9667G>C (p.Asp3223His)
c.9658G>C (p.Asp3220His)
c.9154G>C (p.Asp3052His)
c.9085G>C (p.Asp3029His)
c.3871G>C (p.Asp1291His)
c.9721G>C (p.Asp3241His)
c.9601G>C (p.Asp3201His)
c.9532G>C (p.Asp3178His)
c.7936G>C (p.Asp2646His)
n.10072G>C
 gnomAD v4
6g.51747820C>TCA364420079PKHD1c.9796G>A (p.Asp3266Asn)
c.9667G>A (p.Asp3223Asn)
c.9658G>A (p.Asp3220Asn)
c.9154G>A (p.Asp3052Asn)
c.9085G>A (p.Asp3029Asn)
c.3871G>A (p.Asp1291Asn)
c.9721G>A (p.Asp3241Asn)
c.9601G>A (p.Asp3201Asn)
c.9532G>A (p.Asp3178Asn)
c.7936G>A (p.Asp2646Asn)
n.10072G>A
 COSMIC COSMIC
6g.51747821A>CCA364420083PKHD1c.9795T>G (p.Asn3265Lys)
c.9666T>G (p.Asn3222Lys)
c.9657T>G (p.Asn3219Lys)
c.9153T>G (p.Asn3051Lys)
c.9084T>G (p.Asn3028Lys)
c.3870T>G (p.Asn1290Lys)
c.9720T>G (p.Asn3240Lys)
c.9600T>G (p.Asn3200Lys)
c.9531T>G (p.Asn3177Lys)
c.7935T>G (p.Asn2645Lys)
n.10071T>G
6g.51747821A>GCA450613421PKHD1c.9795T>C (p.Asn3265=)
c.9666T>C (p.Asn3222=)
c.9657T>C (p.Asn3219=)
c.9153T>C (p.Asn3051=)
c.9084T>C (p.Asn3028=)
c.3870T>C (p.Asn1290=)
c.9720T>C (p.Asn3240=)
c.9600T>C (p.Asn3200=)
c.9531T>C (p.Asn3177=)
c.7935T>C (p.Asn2645=)
n.10071T>C
6g.51747821A>TCA364420085PKHD1c.9795T>A (p.Asn3265Lys)
c.9666T>A (p.Asn3222Lys)
c.9657T>A (p.Asn3219Lys)
c.9153T>A (p.Asn3051Lys)
c.9084T>A (p.Asn3028Lys)
c.3870T>A (p.Asn1290Lys)
c.9720T>A (p.Asn3240Lys)
c.9600T>A (p.Asn3200Lys)
c.9531T>A (p.Asn3177Lys)
c.7935T>A (p.Asn2645Lys)
n.10071T>A
6g.51747822T>ACA364420087PKHD1c.9794A>T (p.Asn3265Ile)
c.9665A>T (p.Asn3222Ile)
c.9656A>T (p.Asn3219Ile)
c.9152A>T (p.Asn3051Ile)
c.9083A>T (p.Asn3028Ile)
c.3869A>T (p.Asn1290Ile)
c.9719A>T (p.Asn3240Ile)
c.9599A>T (p.Asn3200Ile)
c.9530A>T (p.Asn3177Ile)
c.7934A>T (p.Asn2645Ile)
n.10070A>T
6g.51747822T>CCA364420088PKHD1c.9794A>G (p.Asn3265Ser)
c.9665A>G (p.Asn3222Ser)
c.9656A>G (p.Asn3219Ser)
c.9152A>G (p.Asn3051Ser)
c.9083A>G (p.Asn3028Ser)
c.3869A>G (p.Asn1290Ser)
c.9719A>G (p.Asn3240Ser)
c.9599A>G (p.Asn3200Ser)
c.9530A>G (p.Asn3177Ser)
c.7934A>G (p.Asn2645Ser)
n.10070A>G
6g.51747822T>GCA364420089PKHD1c.9794A>C (p.Asn3265Thr)
c.9665A>C (p.Asn3222Thr)
c.9656A>C (p.Asn3219Thr)
c.9152A>C (p.Asn3051Thr)
c.9083A>C (p.Asn3028Thr)
c.3869A>C (p.Asn1290Thr)
c.9719A>C (p.Asn3240Thr)
c.9599A>C (p.Asn3200Thr)
c.9530A>C (p.Asn3177Thr)
c.7934A>C (p.Asn2645Thr)
n.10070A>C
6g.51747823T>ACA364420092PKHD1c.9793A>T (p.Asn3265Tyr)
c.9664A>T (p.Asn3222Tyr)
c.9655A>T (p.Asn3219Tyr)
c.9151A>T (p.Asn3051Tyr)
c.9082A>T (p.Asn3028Tyr)
c.3868A>T (p.Asn1290Tyr)
c.9718A>T (p.Asn3240Tyr)
c.9598A>T (p.Asn3200Tyr)
c.9529A>T (p.Asn3177Tyr)
c.7933A>T (p.Asn2645Tyr)
n.10069A>T
6g.51747823T>CCA364420096PKHD1c.9793A>G (p.Asn3265Asp)
c.9664A>G (p.Asn3222Asp)
c.9655A>G (p.Asn3219Asp)
c.9151A>G (p.Asn3051Asp)
c.9082A>G (p.Asn3028Asp)
c.3868A>G (p.Asn1290Asp)
c.9718A>G (p.Asn3240Asp)
c.9598A>G (p.Asn3200Asp)
c.9529A>G (p.Asn3177Asp)
c.7933A>G (p.Asn2645Asp)
n.10069A>G
 dbSNP gnomAD v3 gnomAD v4
6g.51747823T>GCA364420097PKHD1c.9793A>C (p.Asn3265His)
c.9664A>C (p.Asn3222His)
c.9655A>C (p.Asn3219His)
c.9151A>C (p.Asn3051His)
c.9082A>C (p.Asn3028His)
c.3868A>C (p.Asn1290His)
c.9718A>C (p.Asn3240His)
c.9598A>C (p.Asn3200His)
c.9529A>C (p.Asn3177His)
c.7933A>C (p.Asn2645His)
n.10069A>C
6g.51747823T=CA1628501850PKHD1c.9793A= (p.Asn3265=)
c.9664A= (p.Asn3222=)
c.9655A= (p.Asn3219=)
c.9151A= (p.Asn3051=)
c.9082A= (p.Asn3028=)
c.3868A= (p.Asn1290=)
c.9718A= (p.Asn3240=)
c.9598A= (p.Asn3200=)
c.9529A= (p.Asn3177=)
c.7933A= (p.Asn2645=)
n.10069A=
6g.51747824C>ACA364420101PKHD1c.9792G>T (p.Arg3264Ser)
c.9663G>T (p.Arg3221Ser)
c.9654G>T (p.Arg3218Ser)
c.9150G>T (p.Arg3050Ser)
c.9081G>T (p.Arg3027Ser)
c.3867G>T (p.Arg1289Ser)
c.9717G>T (p.Arg3239Ser)
c.9597G>T (p.Arg3199Ser)
c.9528G>T (p.Arg3176Ser)
c.7932G>T (p.Arg2644Ser)
n.10068G>T
 COSMIC COSMIC
6g.51747824C=CA1628501855PKHD1c.9792G= (p.Arg3264=)
c.9663G= (p.Arg3221=)
c.9654G= (p.Arg3218=)
c.9150G= (p.Arg3050=)
c.9081G= (p.Arg3027=)
c.3867G= (p.Arg1289=)
c.9717G= (p.Arg3239=)
c.9597G= (p.Arg3199=)
c.9528G= (p.Arg3176=)
c.7932G= (p.Arg2644=)
n.10068G=
6g.51747824C>GCA364420102PKHD1c.9792G>C (p.Arg3264Ser)
c.9663G>C (p.Arg3221Ser)
c.9654G>C (p.Arg3218Ser)
c.9150G>C (p.Arg3050Ser)
c.9081G>C (p.Arg3027Ser)
c.3867G>C (p.Arg1289Ser)
c.9717G>C (p.Arg3239Ser)
c.9597G>C (p.Arg3199Ser)
c.9528G>C (p.Arg3176Ser)
c.7932G>C (p.Arg2644Ser)
n.10068G>C
6g.51747824C>TCA3851338PKHD1c.9792G>A (p.Arg3264=)
c.9663G>A (p.Arg3221=)
c.9654G>A (p.Arg3218=)
c.9150G>A (p.Arg3050=)
c.9081G>A (p.Arg3027=)
c.3867G>A (p.Arg1289=)
c.9717G>A (p.Arg3239=)
c.9597G>A (p.Arg3199=)
c.9528G>A (p.Arg3176=)
c.7932G>A (p.Arg2644=)
n.10068G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51747825C>ACA364420107PKHD1c.9791G>T (p.Arg3264Met)
c.9662G>T (p.Arg3221Met)
c.9653G>T (p.Arg3218Met)
c.9149G>T (p.Arg3050Met)
c.9080G>T (p.Arg3027Met)
c.3866G>T (p.Arg1289Met)
c.9716G>T (p.Arg3239Met)
c.9596G>T (p.Arg3199Met)
c.9527G>T (p.Arg3176Met)
c.7931G>T (p.Arg2644Met)
n.10067G>T
6g.51747825C>GCA364420108PKHD1c.9791G>C (p.Arg3264Thr)
c.9662G>C (p.Arg3221Thr)
c.9653G>C (p.Arg3218Thr)
c.9149G>C (p.Arg3050Thr)
c.9080G>C (p.Arg3027Thr)
c.3866G>C (p.Arg1289Thr)
c.9716G>C (p.Arg3239Thr)
c.9596G>C (p.Arg3199Thr)
c.9527G>C (p.Arg3176Thr)
c.7931G>C (p.Arg2644Thr)
n.10067G>C
6g.51747825C>TCA364420106PKHD1c.9791G>A (p.Arg3264Lys)
c.9662G>A (p.Arg3221Lys)
c.9653G>A (p.Arg3218Lys)
c.9149G>A (p.Arg3050Lys)
c.9080G>A (p.Arg3027Lys)
c.3866G>A (p.Arg1289Lys)
c.9716G>A (p.Arg3239Lys)
c.9596G>A (p.Arg3199Lys)
c.9527G>A (p.Arg3176Lys)
c.7931G>A (p.Arg2644Lys)
n.10067G>A
6g.51747826T>ACA364420111PKHD1c.9790A>T (p.Arg3264Trp)
c.9661A>T (p.Arg3221Trp)
c.9652A>T (p.Arg3218Trp)
c.9148A>T (p.Arg3050Trp)
c.9079A>T (p.Arg3027Trp)
c.3865A>T (p.Arg1289Trp)
c.9715A>T (p.Arg3239Trp)
c.9595A>T (p.Arg3199Trp)
c.9526A>T (p.Arg3176Trp)
c.7930A>T (p.Arg2644Trp)
n.10066A>T
6g.51747826T>CCA364420113PKHD1c.9790A>G (p.Arg3264Gly)
c.9661A>G (p.Arg3221Gly)
c.9652A>G (p.Arg3218Gly)
c.9148A>G (p.Arg3050Gly)
c.9079A>G (p.Arg3027Gly)
c.3865A>G (p.Arg1289Gly)
c.9715A>G (p.Arg3239Gly)
c.9595A>G (p.Arg3199Gly)
c.9526A>G (p.Arg3176Gly)
c.7930A>G (p.Arg2644Gly)
n.10066A>G
 gnomAD v4
6g.51747826T>GCA450613427PKHD1c.9790A>C (p.Arg3264=)
c.9661A>C (p.Arg3221=)
c.9652A>C (p.Arg3218=)
c.9148A>C (p.Arg3050=)
c.9079A>C (p.Arg3027=)
c.3865A>C (p.Arg1289=)
c.9715A>C (p.Arg3239=)
c.9595A>C (p.Arg3199=)
c.9526A>C (p.Arg3176=)
c.7930A>C (p.Arg2644=)
n.10066A>C
6g.51747827C>ACA450613430PKHD1c.9789G>T (p.Val3263=)
c.9660G>T (p.Val3220=)
c.9651G>T (p.Val3217=)
c.9147G>T (p.Val3049=)
c.9078G>T (p.Val3026=)
c.3864G>T (p.Val1288=)
c.9714G>T (p.Val3238=)
c.9594G>T (p.Val3198=)
c.9525G>T (p.Val3175=)
c.7929G>T (p.Val2643=)
n.10065G>T
6g.51747827C>GCA450613431PKHD1c.9789G>C (p.Val3263=)
c.9660G>C (p.Val3220=)
c.9651G>C (p.Val3217=)
c.9147G>C (p.Val3049=)
c.9078G>C (p.Val3026=)
c.3864G>C (p.Val1288=)
c.9714G>C (p.Val3238=)
c.9594G>C (p.Val3198=)
c.9525G>C (p.Val3175=)
c.7929G>C (p.Val2643=)
n.10065G>C
6g.51747827C>TCA450613432PKHD1c.9789G>A (p.Val3263=)
c.9660G>A (p.Val3220=)
c.9651G>A (p.Val3217=)
c.9147G>A (p.Val3049=)
c.9078G>A (p.Val3026=)
c.3864G>A (p.Val1288=)
c.9714G>A (p.Val3238=)
c.9594G>A (p.Val3198=)
c.9525G>A (p.Val3175=)
c.7929G>A (p.Val2643=)
n.10065G>A
 ClinVar dbSNP
6g.51747828A=CA1628501864PKHD1c.9788T= (p.Val3263=)
c.9659T= (p.Val3220=)
c.9650T= (p.Val3217=)
c.9146T= (p.Val3049=)
c.9077T= (p.Val3026=)
c.3863T= (p.Val1288=)
c.9713T= (p.Val3238=)
c.9593T= (p.Val3198=)
c.9524T= (p.Val3175=)
c.7928T= (p.Val2643=)
n.10064T=
6g.51747828A>CCA364420115PKHD1c.9788T>G (p.Val3263Gly)
c.9659T>G (p.Val3220Gly)
c.9650T>G (p.Val3217Gly)
c.9146T>G (p.Val3049Gly)
c.9077T>G (p.Val3026Gly)
c.3863T>G (p.Val1288Gly)
c.9713T>G (p.Val3238Gly)
c.9593T>G (p.Val3198Gly)
c.9524T>G (p.Val3175Gly)
c.7928T>G (p.Val2643Gly)
n.10064T>G
6g.51747828A>GCA234563PKHD1c.9788T>C (p.Val3263Ala)
c.9659T>C (p.Val3220Ala)
c.9650T>C (p.Val3217Ala)
c.9146T>C (p.Val3049Ala)
c.9077T>C (p.Val3026Ala)
c.3863T>C (p.Val1288Ala)
c.9713T>C (p.Val3238Ala)
c.9593T>C (p.Val3198Ala)
c.9524T>C (p.Val3175Ala)
c.7928T>C (p.Val2643Ala)
n.10064T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51747828A>TCA364420116PKHD1c.9788T>A (p.Val3263Glu)
c.9659T>A (p.Val3220Glu)
c.9650T>A (p.Val3217Glu)
c.9146T>A (p.Val3049Glu)
c.9077T>A (p.Val3026Glu)
c.3863T>A (p.Val1288Glu)
c.9713T>A (p.Val3238Glu)
c.9593T>A (p.Val3198Glu)
c.9524T>A (p.Val3175Glu)
c.7928T>A (p.Val2643Glu)
n.10064T>A
6g.51747829C>ACA364420121PKHD1c.9787G>T (p.Val3263Leu)
c.9658G>T (p.Val3220Leu)
c.9649G>T (p.Val3217Leu)
c.9145G>T (p.Val3049Leu)
c.9076G>T (p.Val3026Leu)
c.3862G>T (p.Val1288Leu)
c.9712G>T (p.Val3238Leu)
c.9592G>T (p.Val3198Leu)
c.9523G>T (p.Val3175Leu)
c.7927G>T (p.Val2643Leu)
n.10063G>T
 COSMIC COSMIC
6g.51747829C>GCA364420119PKHD1c.9787G>C (p.Val3263Leu)
c.9658G>C (p.Val3220Leu)
c.9649G>C (p.Val3217Leu)
c.9145G>C (p.Val3049Leu)
c.9076G>C (p.Val3026Leu)
c.3862G>C (p.Val1288Leu)
c.9712G>C (p.Val3238Leu)
c.9592G>C (p.Val3198Leu)
c.9523G>C (p.Val3175Leu)
c.7927G>C (p.Val2643Leu)
n.10063G>C
6g.51747829C>TCA364420120PKHD1c.9787G>A (p.Val3263Met)
c.9658G>A (p.Val3220Met)
c.9649G>A (p.Val3217Met)
c.9145G>A (p.Val3049Met)
c.9076G>A (p.Val3026Met)
c.3862G>A (p.Val1288Met)
c.9712G>A (p.Val3238Met)
c.9592G>A (p.Val3198Met)
c.9523G>A (p.Val3175Met)
c.7927G>A (p.Val2643Met)
n.10063G>A
6g.51747830T>ACA364420124PKHD1c.9786A>T (p.Lys3262Asn)
c.9657A>T (p.Lys3219Asn)
c.9648A>T (p.Lys3216Asn)
c.9144A>T (p.Lys3048Asn)
c.9075A>T (p.Lys3025Asn)
c.3861A>T (p.Lys1287Asn)
c.9711A>T (p.Lys3237Asn)
c.9591A>T (p.Lys3197Asn)
c.9522A>T (p.Lys3174Asn)
c.7926A>T (p.Lys2642Asn)
n.10062A>T
 dbSNP gnomAD v2 gnomAD v4
6g.51747830T>CCA450613435PKHD1c.9786A>G (p.Lys3262=)
c.9657A>G (p.Lys3219=)
c.9648A>G (p.Lys3216=)
c.9144A>G (p.Lys3048=)
c.9075A>G (p.Lys3025=)
c.3861A>G (p.Lys1287=)
c.9711A>G (p.Lys3237=)
c.9591A>G (p.Lys3197=)
c.9522A>G (p.Lys3174=)
c.7926A>G (p.Lys2642=)
n.10062A>G
6g.51747830T>GCA364420125PKHD1c.9786A>C (p.Lys3262Asn)
c.9657A>C (p.Lys3219Asn)
c.9648A>C (p.Lys3216Asn)
c.9144A>C (p.Lys3048Asn)
c.9075A>C (p.Lys3025Asn)
c.3861A>C (p.Lys1287Asn)
c.9711A>C (p.Lys3237Asn)
c.9591A>C (p.Lys3197Asn)
c.9522A>C (p.Lys3174Asn)
c.7926A>C (p.Lys2642Asn)
n.10062A>C
6g.51747830T=CA1628501868PKHD1c.9786A= (p.Lys3262=)
c.9657A= (p.Lys3219=)
c.9648A= (p.Lys3216=)
c.9144A= (p.Lys3048=)
c.9075A= (p.Lys3025=)
c.3861A= (p.Lys1287=)
c.9711A= (p.Lys3237=)
c.9591A= (p.Lys3197=)
c.9522A= (p.Lys3174=)
c.7926A= (p.Lys2642=)
n.10062A=
6g.51747831T>ACA364420128PKHD1c.9785A>T (p.Lys3262Ile)
c.9656A>T (p.Lys3219Ile)
c.9647A>T (p.Lys3216Ile)
c.9143A>T (p.Lys3048Ile)
c.9074A>T (p.Lys3025Ile)
c.3860A>T (p.Lys1287Ile)
c.9710A>T (p.Lys3237Ile)
c.9590A>T (p.Lys3197Ile)
c.9521A>T (p.Lys3174Ile)
c.7925A>T (p.Lys2642Ile)
n.10061A>T
6g.51747831T>CCA364420130PKHD1c.9785A>G (p.Lys3262Arg)
c.9656A>G (p.Lys3219Arg)
c.9647A>G (p.Lys3216Arg)
c.9143A>G (p.Lys3048Arg)
c.9074A>G (p.Lys3025Arg)
c.3860A>G (p.Lys1287Arg)
c.9710A>G (p.Lys3237Arg)
c.9590A>G (p.Lys3197Arg)
c.9521A>G (p.Lys3174Arg)
c.7925A>G (p.Lys2642Arg)
n.10061A>G
6g.51747831T>GCA364420131PKHD1c.9785A>C (p.Lys3262Thr)
c.9656A>C (p.Lys3219Thr)
c.9647A>C (p.Lys3216Thr)
c.9143A>C (p.Lys3048Thr)
c.9074A>C (p.Lys3025Thr)
c.3860A>C (p.Lys1287Thr)
c.9710A>C (p.Lys3237Thr)
c.9590A>C (p.Lys3197Thr)
c.9521A>C (p.Lys3174Thr)
c.7925A>C (p.Lys2642Thr)
n.10061A>C
6g.51747832T>ACA364420134PKHD1c.9784A>T (p.Lys3262Ter)
c.9655A>T (p.Lys3219Ter)
c.9646A>T (p.Lys3216Ter)
c.9142A>T (p.Lys3048Ter)
c.9073A>T (p.Lys3025Ter)
c.3859A>T (p.Lys1287Ter)
c.9709A>T (p.Lys3237Ter)
c.9589A>T (p.Lys3197Ter)
c.9520A>T (p.Lys3174Ter)
c.7924A>T (p.Lys2642Ter)
n.10060A>T
6g.51747832T>CCA364420137PKHD1c.9784A>G (p.Lys3262Glu)
c.9655A>G (p.Lys3219Glu)
c.9646A>G (p.Lys3216Glu)
c.9142A>G (p.Lys3048Glu)
c.9073A>G (p.Lys3025Glu)
c.3859A>G (p.Lys1287Glu)
c.9709A>G (p.Lys3237Glu)
c.9589A>G (p.Lys3197Glu)
c.9520A>G (p.Lys3174Glu)
c.7924A>G (p.Lys2642Glu)
n.10060A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51747832T>GCA364420136PKHD1c.9784A>C (p.Lys3262Gln)
c.9655A>C (p.Lys3219Gln)
c.9646A>C (p.Lys3216Gln)
c.9142A>C (p.Lys3048Gln)
c.9073A>C (p.Lys3025Gln)
c.3859A>C (p.Lys1287Gln)
c.9709A>C (p.Lys3237Gln)
c.9589A>C (p.Lys3197Gln)
c.9520A>C (p.Lys3174Gln)
c.7924A>C (p.Lys2642Gln)
n.10060A>C
6g.51747832T=CA1628501870PKHD1c.9784A= (p.Lys3262=)
c.9655A= (p.Lys3219=)
c.9646A= (p.Lys3216=)
c.9142A= (p.Lys3048=)
c.9073A= (p.Lys3025=)
c.3859A= (p.Lys1287=)
c.9709A= (p.Lys3237=)
c.9589A= (p.Lys3197=)
c.9520A= (p.Lys3174=)
c.7924A= (p.Lys2642=)
n.10060A=
6g.51747833delCA2578644757PKHD1c.9783del (p.His3261GlnfsTer3)
c.9654del (p.His3218GlnfsTer3)
c.9645del (p.His3215GlnfsTer3)
c.9141del (p.His3047GlnfsTer3)
c.9072del (p.His3024GlnfsTer3)
c.3858del (p.His1286GlnfsTer3)
c.9708del (p.His3236GlnfsTer3)
c.9588del (p.His3196GlnfsTer3)
c.9519del (p.His3173GlnfsTer3)
c.7923del (p.His2641GlnfsTer3)
n.10059del
6g.51747833G>ACA450613439PKHD1c.9783C>T (p.His3261=)
c.9654C>T (p.His3218=)
c.9645C>T (p.His3215=)
c.9141C>T (p.His3047=)
c.9072C>T (p.His3024=)
c.3858C>T (p.His1286=)
c.9708C>T (p.His3236=)
c.9588C>T (p.His3196=)
c.9519C>T (p.His3173=)
c.7923C>T (p.His2641=)
n.10059C>T
 ClinVar
6g.51747833G>CCA364420138PKHD1c.9783C>G (p.His3261Gln)
c.9654C>G (p.His3218Gln)
c.9645C>G (p.His3215Gln)
c.9141C>G (p.His3047Gln)
c.9072C>G (p.His3024Gln)
c.3858C>G (p.His1286Gln)
c.9708C>G (p.His3236Gln)
c.9588C>G (p.His3196Gln)
c.9519C>G (p.His3173Gln)
c.7923C>G (p.His2641Gln)
n.10059C>G
 gnomAD v4
6g.51747833G>TCA364420139PKHD1c.9783C>A (p.His3261Gln)
c.9654C>A (p.His3218Gln)
c.9645C>A (p.His3215Gln)
c.9141C>A (p.His3047Gln)
c.9072C>A (p.His3024Gln)
c.3858C>A (p.His1286Gln)
c.9708C>A (p.His3236Gln)
c.9588C>A (p.His3196Gln)
c.9519C>A (p.His3173Gln)
c.7923C>A (p.His2641Gln)
n.10059C>A
6g.51747834T>ACA364420141PKHD1c.9782A>T (p.His3261Leu)
c.9653A>T (p.His3218Leu)
c.9644A>T (p.His3215Leu)
c.9140A>T (p.His3047Leu)
c.9071A>T (p.His3024Leu)
c.3857A>T (p.His1286Leu)
c.9707A>T (p.His3236Leu)
c.9587A>T (p.His3196Leu)
c.9518A>T (p.His3173Leu)
c.7922A>T (p.His2641Leu)
n.10058A>T
6g.51747834T>CCA3851339PKHD1c.9782A>G (p.His3261Arg)
c.9653A>G (p.His3218Arg)
c.9644A>G (p.His3215Arg)
c.9140A>G (p.His3047Arg)
c.9071A>G (p.His3024Arg)
c.3857A>G (p.His1286Arg)
c.9707A>G (p.His3236Arg)
c.9587A>G (p.His3196Arg)
c.9518A>G (p.His3173Arg)
c.7922A>G (p.His2641Arg)
n.10058A>G
 dbSNP ExAC gnomAD v2
6g.51747834T>GCA364420142PKHD1c.9782A>C (p.His3261Pro)
c.9653A>C (p.His3218Pro)
c.9644A>C (p.His3215Pro)
c.9140A>C (p.His3047Pro)
c.9071A>C (p.His3024Pro)
c.3857A>C (p.His1286Pro)
c.9707A>C (p.His3236Pro)
c.9587A>C (p.His3196Pro)
c.9518A>C (p.His3173Pro)
c.7922A>C (p.His2641Pro)
n.10058A>C
6g.51747834T=CA1628501874PKHD1c.9782A= (p.His3261=)
c.9653A= (p.His3218=)
c.9644A= (p.His3215=)
c.9140A= (p.His3047=)
c.9071A= (p.His3024=)
c.3857A= (p.His1286=)
c.9707A= (p.His3236=)
c.9587A= (p.His3196=)
c.9518A= (p.His3173=)
c.7922A= (p.His2641=)
n.10058A=
6g.51747835G>ACA364420143PKHD1c.9781C>T (p.His3261Tyr)
c.9652C>T (p.His3218Tyr)
c.9643C>T (p.His3215Tyr)
c.9139C>T (p.His3047Tyr)
c.9070C>T (p.His3024Tyr)
c.3856C>T (p.His1286Tyr)
c.9706C>T (p.His3236Tyr)
c.9586C>T (p.His3196Tyr)
c.9517C>T (p.His3173Tyr)
c.7921C>T (p.His2641Tyr)
n.10057C>T
 gnomAD v4
6g.51747835G>CCA364420144PKHD1c.9781C>G (p.His3261Asp)
c.9652C>G (p.His3218Asp)
c.9643C>G (p.His3215Asp)
c.9139C>G (p.His3047Asp)
c.9070C>G (p.His3024Asp)
c.3856C>G (p.His1286Asp)
c.9706C>G (p.His3236Asp)
c.9586C>G (p.His3196Asp)
c.9517C>G (p.His3173Asp)
c.7921C>G (p.His2641Asp)
n.10057C>G
6g.51747835G>TCA364420146PKHD1c.9781C>A (p.His3261Asn)
c.9652C>A (p.His3218Asn)
c.9643C>A (p.His3215Asn)
c.9139C>A (p.His3047Asn)
c.9070C>A (p.His3024Asn)
c.3856C>A (p.His1286Asn)
c.9706C>A (p.His3236Asn)
c.9586C>A (p.His3196Asn)
c.9517C>A (p.His3173Asn)
c.7921C>A (p.His2641Asn)
n.10057C>A
6g.51747836C>ACA364420148PKHD1c.9780G>T (p.Trp3260Cys)
c.9651G>T (p.Trp3217Cys)
c.9642G>T (p.Trp3214Cys)
c.9138G>T (p.Trp3046Cys)
c.9069G>T (p.Trp3023Cys)
c.3855G>T (p.Trp1285Cys)
c.9705G>T (p.Trp3235Cys)
c.9585G>T (p.Trp3195Cys)
c.9516G>T (p.Trp3172Cys)
c.7920G>T (p.Trp2640Cys)
n.10056G>T
6g.51747836C>GCA364420149PKHD1c.9780G>C (p.Trp3260Cys)
c.9651G>C (p.Trp3217Cys)
c.9642G>C (p.Trp3214Cys)
c.9138G>C (p.Trp3046Cys)
c.9069G>C (p.Trp3023Cys)
c.3855G>C (p.Trp1285Cys)
c.9705G>C (p.Trp3235Cys)
c.9585G>C (p.Trp3195Cys)
c.9516G>C (p.Trp3172Cys)
c.7920G>C (p.Trp2640Cys)
n.10056G>C
6g.51747836C>TCA364420150PKHD1c.9780G>A (p.Trp3260Ter)
c.9651G>A (p.Trp3217Ter)
c.9642G>A (p.Trp3214Ter)
c.9138G>A (p.Trp3046Ter)
c.9069G>A (p.Trp3023Ter)
c.3855G>A (p.Trp1285Ter)
c.9705G>A (p.Trp3235Ter)
c.9585G>A (p.Trp3195Ter)
c.9516G>A (p.Trp3172Ter)
c.7920G>A (p.Trp2640Ter)
n.10056G>A
 ClinVar
6g.51747837C>ACA364420158PKHD1c.9779G>T (p.Trp3260Leu)
c.9650G>T (p.Trp3217Leu)
c.9641G>T (p.Trp3214Leu)
c.9137G>T (p.Trp3046Leu)
c.9068G>T (p.Trp3023Leu)
c.3854G>T (p.Trp1285Leu)
c.9704G>T (p.Trp3235Leu)
c.9584G>T (p.Trp3195Leu)
c.9515G>T (p.Trp3172Leu)
c.7919G>T (p.Trp2640Leu)
n.10055G>T
6g.51747837C>GCA364420156PKHD1c.9779G>C (p.Trp3260Ser)
c.9650G>C (p.Trp3217Ser)
c.9641G>C (p.Trp3214Ser)
c.9137G>C (p.Trp3046Ser)
c.9068G>C (p.Trp3023Ser)
c.3854G>C (p.Trp1285Ser)
c.9704G>C (p.Trp3235Ser)
c.9584G>C (p.Trp3195Ser)
c.9515G>C (p.Trp3172Ser)
c.7919G>C (p.Trp2640Ser)
n.10055G>C
6g.51747837C>TCA364420153PKHD1c.9779G>A (p.Trp3260Ter)
c.9650G>A (p.Trp3217Ter)
c.9641G>A (p.Trp3214Ter)
c.9137G>A (p.Trp3046Ter)
c.9068G>A (p.Trp3023Ter)
c.3854G>A (p.Trp1285Ter)
c.9704G>A (p.Trp3235Ter)
c.9584G>A (p.Trp3195Ter)
c.9515G>A (p.Trp3172Ter)
c.7919G>A (p.Trp2640Ter)
n.10055G>A
 ClinVar
6g.51747838A=CA1628501875PKHD1c.9778T= (p.Trp3260=)
c.9649T= (p.Trp3217=)
c.9640T= (p.Trp3214=)
c.9136T= (p.Trp3046=)
c.9067T= (p.Trp3023=)
c.3853T= (p.Trp1285=)
c.9703T= (p.Trp3235=)
c.9583T= (p.Trp3195=)
c.9514T= (p.Trp3172=)
c.7918T= (p.Trp2640=)
n.10054T=
6g.51747838A>CCA364420160PKHD1c.9778T>G (p.Trp3260Gly)
c.9649T>G (p.Trp3217Gly)
c.9640T>G (p.Trp3214Gly)
c.9136T>G (p.Trp3046Gly)
c.9067T>G (p.Trp3023Gly)
c.3853T>G (p.Trp1285Gly)
c.9703T>G (p.Trp3235Gly)
c.9583T>G (p.Trp3195Gly)
c.9514T>G (p.Trp3172Gly)
c.7918T>G (p.Trp2640Gly)
n.10054T>G
 dbSNP gnomAD v2
6g.51747838A>GCA364420163PKHD1c.9778T>C (p.Trp3260Arg)
c.9649T>C (p.Trp3217Arg)
c.9640T>C (p.Trp3214Arg)
c.9136T>C (p.Trp3046Arg)
c.9067T>C (p.Trp3023Arg)
c.3853T>C (p.Trp1285Arg)
c.9703T>C (p.Trp3235Arg)
c.9583T>C (p.Trp3195Arg)
c.9514T>C (p.Trp3172Arg)
c.7918T>C (p.Trp2640Arg)
n.10054T>C
 gnomAD v4
6g.51747838A>TCA364420164PKHD1c.9778T>A (p.Trp3260Arg)
c.9649T>A (p.Trp3217Arg)
c.9640T>A (p.Trp3214Arg)
c.9136T>A (p.Trp3046Arg)
c.9067T>A (p.Trp3023Arg)
c.3853T>A (p.Trp1285Arg)
c.9703T>A (p.Trp3235Arg)
c.9583T>A (p.Trp3195Arg)
c.9514T>A (p.Trp3172Arg)
c.7918T>A (p.Trp2640Arg)
n.10054T>A
6g.51747839T>ACA450613442PKHD1c.9777A>T (p.Pro3259=)
c.9648A>T (p.Pro3216=)
c.9639A>T (p.Pro3213=)
c.9135A>T (p.Pro3045=)
c.9066A>T (p.Pro3022=)
c.3852A>T (p.Pro1284=)
c.9702A>T (p.Pro3234=)
c.9582A>T (p.Pro3194=)
c.9513A>T (p.Pro3171=)
c.7917A>T (p.Pro2639=)
n.10053A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51747839T>CCA138895838PKHD1c.9777A>G (p.Pro3259=)
c.9648A>G (p.Pro3216=)
c.9639A>G (p.Pro3213=)
c.9135A>G (p.Pro3045=)
c.9066A>G (p.Pro3022=)
c.3852A>G (p.Pro1284=)
c.9702A>G (p.Pro3234=)
c.9582A>G (p.Pro3194=)
c.9513A>G (p.Pro3171=)
c.7917A>G (p.Pro2639=)
n.10053A>G
 ClinVar dbSNP gnomAD v4
6g.51747839T>GCA450613443PKHD1c.9777A>C (p.Pro3259=)
c.9648A>C (p.Pro3216=)
c.9639A>C (p.Pro3213=)
c.9135A>C (p.Pro3045=)
c.9066A>C (p.Pro3022=)
c.3852A>C (p.Pro1284=)
c.9702A>C (p.Pro3234=)
c.9582A>C (p.Pro3194=)
c.9513A>C (p.Pro3171=)
c.7917A>C (p.Pro2639=)
n.10053A>C
6g.51747839T=CA1628501879PKHD1c.9777A= (p.Pro3259=)
c.9648A= (p.Pro3216=)
c.9639A= (p.Pro3213=)
c.9135A= (p.Pro3045=)
c.9066A= (p.Pro3022=)
c.3852A= (p.Pro1284=)
c.9702A= (p.Pro3234=)
c.9582A= (p.Pro3194=)
c.9513A= (p.Pro3171=)
c.7917A= (p.Pro2639=)
n.10053A=
6g.51747840G>ACA364420168PKHD1c.9776C>T (p.Pro3259Leu)
c.9647C>T (p.Pro3216Leu)
c.9638C>T (p.Pro3213Leu)
c.9134C>T (p.Pro3045Leu)
c.9065C>T (p.Pro3022Leu)
c.3851C>T (p.Pro1284Leu)
c.9701C>T (p.Pro3234Leu)
c.9581C>T (p.Pro3194Leu)
c.9512C>T (p.Pro3171Leu)
c.7916C>T (p.Pro2639Leu)
n.10052C>T
 gnomAD v4
6g.51747840G>CCA364420169PKHD1c.9776C>G (p.Pro3259Arg)
c.9647C>G (p.Pro3216Arg)
c.9638C>G (p.Pro3213Arg)
c.9134C>G (p.Pro3045Arg)
c.9065C>G (p.Pro3022Arg)
c.3851C>G (p.Pro1284Arg)
c.9701C>G (p.Pro3234Arg)
c.9581C>G (p.Pro3194Arg)
c.9512C>G (p.Pro3171Arg)
c.7916C>G (p.Pro2639Arg)
n.10052C>G
6g.51747840G>TCA364420171PKHD1c.9776C>A (p.Pro3259Gln)
c.9647C>A (p.Pro3216Gln)
c.9638C>A (p.Pro3213Gln)
c.9134C>A (p.Pro3045Gln)
c.9065C>A (p.Pro3022Gln)
c.3851C>A (p.Pro1284Gln)
c.9701C>A (p.Pro3234Gln)
c.9581C>A (p.Pro3194Gln)
c.9512C>A (p.Pro3171Gln)
c.7916C>A (p.Pro2639Gln)
n.10052C>A
6g.51747841G>ACA364420177PKHD1c.9775C>T (p.Pro3259Ser)
c.9646C>T (p.Pro3216Ser)
c.9637C>T (p.Pro3213Ser)
c.9133C>T (p.Pro3045Ser)
c.9064C>T (p.Pro3022Ser)
c.3850C>T (p.Pro1284Ser)
c.9700C>T (p.Pro3234Ser)
c.9580C>T (p.Pro3194Ser)
c.9511C>T (p.Pro3171Ser)
c.7915C>T (p.Pro2639Ser)
n.10051C>T
 dbSNP gnomAD v4
6g.51747841G>CCA364420174PKHD1c.9775C>G (p.Pro3259Ala)
c.9646C>G (p.Pro3216Ala)
c.9637C>G (p.Pro3213Ala)
c.9133C>G (p.Pro3045Ala)
c.9064C>G (p.Pro3022Ala)
c.3850C>G (p.Pro1284Ala)
c.9700C>G (p.Pro3234Ala)
c.9580C>G (p.Pro3194Ala)
c.9511C>G (p.Pro3171Ala)
c.7915C>G (p.Pro2639Ala)
n.10051C>G
6g.51747841G=CA1628501883PKHD1c.9775C= (p.Pro3259=)
c.9646C= (p.Pro3216=)
c.9637C= (p.Pro3213=)
c.9133C= (p.Pro3045=)
c.9064C= (p.Pro3022=)
c.3850C= (p.Pro1284=)
c.9700C= (p.Pro3234=)
c.9580C= (p.Pro3194=)
c.9511C= (p.Pro3171=)
c.7915C= (p.Pro2639=)
n.10051C=
6g.51747841G>TCA364420175PKHD1c.9775C>A (p.Pro3259Thr)
c.9646C>A (p.Pro3216Thr)
c.9637C>A (p.Pro3213Thr)
c.9133C>A (p.Pro3045Thr)
c.9064C>A (p.Pro3022Thr)
c.3850C>A (p.Pro1284Thr)
c.9700C>A (p.Pro3234Thr)
c.9580C>A (p.Pro3194Thr)
c.9511C>A (p.Pro3171Thr)
c.7915C>A (p.Pro2639Thr)
n.10051C>A
6g.51747842C>ACA364420180PKHD1c.9774G>T (p.Glu3258Asp)
c.9645G>T (p.Glu3215Asp)
c.9636G>T (p.Glu3212Asp)
c.9132G>T (p.Glu3044Asp)
c.9063G>T (p.Glu3021Asp)
c.3849G>T (p.Glu1283Asp)
c.9699G>T (p.Glu3233Asp)
c.9579G>T (p.Glu3193Asp)
c.9510G>T (p.Glu3170Asp)
c.7914G>T (p.Glu2638Asp)
n.10050G>T
6g.51747842C>GCA364420181PKHD1c.9774G>C (p.Glu3258Asp)
c.9645G>C (p.Glu3215Asp)
c.9636G>C (p.Glu3212Asp)
c.9132G>C (p.Glu3044Asp)
c.9063G>C (p.Glu3021Asp)
c.3849G>C (p.Glu1283Asp)
c.9699G>C (p.Glu3233Asp)
c.9579G>C (p.Glu3193Asp)
c.9510G>C (p.Glu3170Asp)
c.7914G>C (p.Glu2638Asp)
n.10050G>C
6g.51747842C>TCA450613447PKHD1c.9774G>A (p.Glu3258=)
c.9645G>A (p.Glu3215=)
c.9636G>A (p.Glu3212=)
c.9132G>A (p.Glu3044=)
c.9063G>A (p.Glu3021=)
c.3849G>A (p.Glu1283=)
c.9699G>A (p.Glu3233=)
c.9579G>A (p.Glu3193=)
c.9510G>A (p.Glu3170=)
c.7914G>A (p.Glu2638=)
n.10050G>A
 ClinVar gnomAD v4
6g.51747843T>ACA364420184PKHD1c.9773A>T (p.Glu3258Val)
c.9644A>T (p.Glu3215Val)
c.9635A>T (p.Glu3212Val)
c.9131A>T (p.Glu3044Val)
c.9062A>T (p.Glu3021Val)
c.3848A>T (p.Glu1283Val)
c.9698A>T (p.Glu3233Val)
c.9578A>T (p.Glu3193Val)
c.9509A>T (p.Glu3170Val)
c.7913A>T (p.Glu2638Val)
n.10049A>T
6g.51747843T>CCA364420186PKHD1c.9773A>G (p.Glu3258Gly)
c.9644A>G (p.Glu3215Gly)
c.9635A>G (p.Glu3212Gly)
c.9131A>G (p.Glu3044Gly)
c.9062A>G (p.Glu3021Gly)
c.3848A>G (p.Glu1283Gly)
c.9698A>G (p.Glu3233Gly)
c.9578A>G (p.Glu3193Gly)
c.9509A>G (p.Glu3170Gly)
c.7913A>G (p.Glu2638Gly)
n.10049A>G
 dbSNP gnomAD v3 gnomAD v4
6g.51747843T>GCA364420188PKHD1c.9773A>C (p.Glu3258Ala)
c.9644A>C (p.Glu3215Ala)
c.9635A>C (p.Glu3212Ala)
c.9131A>C (p.Glu3044Ala)
c.9062A>C (p.Glu3021Ala)
c.3848A>C (p.Glu1283Ala)
c.9698A>C (p.Glu3233Ala)
c.9578A>C (p.Glu3193Ala)
c.9509A>C (p.Glu3170Ala)
c.7913A>C (p.Glu2638Ala)
n.10049A>C
6g.51747843T=CA1628501887PKHD1c.9773A= (p.Glu3258=)
c.9644A= (p.Glu3215=)
c.9635A= (p.Glu3212=)
c.9131A= (p.Glu3044=)
c.9062A= (p.Glu3021=)
c.3848A= (p.Glu1283=)
c.9698A= (p.Glu3233=)
c.9578A= (p.Glu3193=)
c.9509A= (p.Glu3170=)
c.7913A= (p.Glu2638=)
n.10049A=
6g.51747844C>ACA364420195PKHD1c.9772G>T (p.Glu3258Ter)
c.9643G>T (p.Glu3215Ter)
c.9634G>T (p.Glu3212Ter)
c.9130G>T (p.Glu3044Ter)
c.9061G>T (p.Glu3021Ter)
c.3847G>T (p.Glu1283Ter)
c.9697G>T (p.Glu3233Ter)
c.9577G>T (p.Glu3193Ter)
c.9508G>T (p.Glu3170Ter)
c.7912G>T (p.Glu2638Ter)
n.10048G>T
6g.51747844C>GCA364420191PKHD1c.9772G>C (p.Glu3258Gln)
c.9643G>C (p.Glu3215Gln)
c.9634G>C (p.Glu3212Gln)
c.9130G>C (p.Glu3044Gln)
c.9061G>C (p.Glu3021Gln)
c.3847G>C (p.Glu1283Gln)
c.9697G>C (p.Glu3233Gln)
c.9577G>C (p.Glu3193Gln)
c.9508G>C (p.Glu3170Gln)
c.7912G>C (p.Glu2638Gln)
n.10048G>C
 gnomAD v4
6g.51747844C>TCA364420193PKHD1c.9772G>A (p.Glu3258Lys)
c.9643G>A (p.Glu3215Lys)
c.9634G>A (p.Glu3212Lys)
c.9130G>A (p.Glu3044Lys)
c.9061G>A (p.Glu3021Lys)
c.3847G>A (p.Glu1283Lys)
c.9697G>A (p.Glu3233Lys)
c.9577G>A (p.Glu3193Lys)
c.9508G>A (p.Glu3170Lys)
c.7912G>A (p.Glu2638Lys)
n.10048G>A
 gnomAD v4
6g.51747844_51747845insTCA138895840PKHD1c.9771_9772insA (p.Glu3258ArgfsTer9)
c.9642_9643insA (p.Glu3215ArgfsTer9)
c.9633_9634insA (p.Glu3212ArgfsTer9)
c.9129_9130insA (p.Glu3044ArgfsTer9)
c.9060_9061insA (p.Glu3021ArgfsTer9)
c.3846_3847insA (p.Glu1283ArgfsTer9)
c.9696_9697insA (p.Glu3233ArgfsTer9)
c.9576_9577insA (p.Glu3193ArgfsTer9)
c.9507_9508insA (p.Glu3170ArgfsTer9)
c.7911_7912insA (p.Glu2638ArgfsTer9)
n.10047_10048insA
6g.51747845C>ACA364420199PKHD1c.9771G>T (p.Gln3257His)
c.9642G>T (p.Gln3214His)
c.9633G>T (p.Gln3211His)
c.9129G>T (p.Gln3043His)
c.9060G>T (p.Gln3020His)
c.3846G>T (p.Gln1282His)
c.9696G>T (p.Gln3232His)
c.9576G>T (p.Gln3192His)
c.9507G>T (p.Gln3169His)
c.7911G>T (p.Gln2637His)
n.10047G>T
6g.51747845C=CA1628501893PKHD1c.9771G= (p.Gln3257=)
c.9642G= (p.Gln3214=)
c.9633G= (p.Gln3211=)
c.9129G= (p.Gln3043=)
c.9060G= (p.Gln3020=)
c.3846G= (p.Gln1282=)
c.9696G= (p.Gln3232=)
c.9576G= (p.Gln3192=)
c.9507G= (p.Gln3169=)
c.7911G= (p.Gln2637=)
n.10047G=
6g.51747845C>GCA364420204PKHD1c.9771G>C (p.Gln3257His)
c.9642G>C (p.Gln3214His)
c.9633G>C (p.Gln3211His)
c.9129G>C (p.Gln3043His)
c.9060G>C (p.Gln3020His)
c.3846G>C (p.Gln1282His)
c.9696G>C (p.Gln3232His)
c.9576G>C (p.Gln3192His)
c.9507G>C (p.Gln3169His)
c.7911G>C (p.Gln2637His)
n.10047G>C
6g.51747845C>TCA450613452PKHD1c.9771G>A (p.Gln3257=)
c.9642G>A (p.Gln3214=)
c.9633G>A (p.Gln3211=)
c.9129G>A (p.Gln3043=)
c.9060G>A (p.Gln3020=)
c.3846G>A (p.Gln1282=)
c.9696G>A (p.Gln3232=)
c.9576G>A (p.Gln3192=)
c.9507G>A (p.Gln3169=)
c.7911G>A (p.Gln2637=)
n.10047G>A
6g.51747846T>ACA364420207PKHD1c.9770A>T (p.Gln3257Leu)
c.9641A>T (p.Gln3214Leu)
c.9632A>T (p.Gln3211Leu)
c.9128A>T (p.Gln3043Leu)
c.9059A>T (p.Gln3020Leu)
c.3845A>T (p.Gln1282Leu)
c.9695A>T (p.Gln3232Leu)
c.9575A>T (p.Gln3192Leu)
c.9506A>T (p.Gln3169Leu)
c.7910A>T (p.Gln2637Leu)
n.10046A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51747846T>CCA364420210PKHD1c.9770A>G (p.Gln3257Arg)
c.9641A>G (p.Gln3214Arg)
c.9632A>G (p.Gln3211Arg)
c.9128A>G (p.Gln3043Arg)
c.9059A>G (p.Gln3020Arg)
c.3845A>G (p.Gln1282Arg)
c.9695A>G (p.Gln3232Arg)
c.9575A>G (p.Gln3192Arg)
c.9506A>G (p.Gln3169Arg)
c.7910A>G (p.Gln2637Arg)
n.10046A>G
6g.51747846T>GCA364420212PKHD1c.9770A>C (p.Gln3257Pro)
c.9641A>C (p.Gln3214Pro)
c.9632A>C (p.Gln3211Pro)
c.9128A>C (p.Gln3043Pro)
c.9059A>C (p.Gln3020Pro)
c.3845A>C (p.Gln1282Pro)
c.9695A>C (p.Gln3232Pro)
c.9575A>C (p.Gln3192Pro)
c.9506A>C (p.Gln3169Pro)
c.7910A>C (p.Gln2637Pro)
n.10046A>C
6g.51747846T=CA1628501899PKHD1c.9770A= (p.Gln3257=)
c.9641A= (p.Gln3214=)
c.9632A= (p.Gln3211=)
c.9128A= (p.Gln3043=)
c.9059A= (p.Gln3020=)
c.3845A= (p.Gln1282=)
c.9695A= (p.Gln3232=)
c.9575A= (p.Gln3192=)
c.9506A= (p.Gln3169=)
c.7910A= (p.Gln2637=)
n.10046A=
6g.51747846dupCA3851340PKHD1c.9770dup (p.Glu3258GlyfsTer9)
c.9641dup (p.Glu3215GlyfsTer9)
c.9632dup (p.Glu3212GlyfsTer9)
c.9128dup (p.Glu3044GlyfsTer9)
c.9059dup (p.Glu3021GlyfsTer9)
c.3845dup (p.Glu1283GlyfsTer9)
c.9695dup (p.Glu3233GlyfsTer9)
c.9575dup (p.Glu3193GlyfsTer9)
c.9506dup (p.Glu3170GlyfsTer9)
c.7910dup (p.Glu2638GlyfsTer9)
n.10046dup
 dbSNP ExAC gnomAD v2
6g.51747847G>ACA364420216PKHD1c.9769C>T (p.Gln3257Ter)
c.9640C>T (p.Gln3214Ter)
c.9631C>T (p.Gln3211Ter)
c.9127C>T (p.Gln3043Ter)
c.9058C>T (p.Gln3020Ter)
c.3844C>T (p.Gln1282Ter)
c.9694C>T (p.Gln3232Ter)
c.9574C>T (p.Gln3192Ter)
c.9505C>T (p.Gln3169Ter)
c.7909C>T (p.Gln2637Ter)
n.10045C>T
 gnomAD v4
6g.51747847G>CCA364420218PKHD1c.9769C>G (p.Gln3257Glu)
c.9640C>G (p.Gln3214Glu)
c.9631C>G (p.Gln3211Glu)
c.9127C>G (p.Gln3043Glu)
c.9058C>G (p.Gln3020Glu)
c.3844C>G (p.Gln1282Glu)
c.9694C>G (p.Gln3232Glu)
c.9574C>G (p.Gln3192Glu)
c.9505C>G (p.Gln3169Glu)
c.7909C>G (p.Gln2637Glu)
n.10045C>G
6g.51747847G>TCA364420219PKHD1c.9769C>A (p.Gln3257Lys)
c.9640C>A (p.Gln3214Lys)
c.9631C>A (p.Gln3211Lys)
c.9127C>A (p.Gln3043Lys)
c.9058C>A (p.Gln3020Lys)
c.3844C>A (p.Gln1282Lys)
c.9694C>A (p.Gln3232Lys)
c.9574C>A (p.Gln3192Lys)
c.9505C>A (p.Gln3169Lys)
c.7909C>A (p.Gln2637Lys)
n.10045C>A
6g.51747848A>CCA450613456PKHD1c.9768T>G (p.Pro3256=)
c.9639T>G (p.Pro3213=)
c.9630T>G (p.Pro3210=)
c.9126T>G (p.Pro3042=)
c.9057T>G (p.Pro3019=)
c.3843T>G (p.Pro1281=)
c.9693T>G (p.Pro3231=)
c.9573T>G (p.Pro3191=)
c.9504T>G (p.Pro3168=)
c.7908T>G (p.Pro2636=)
n.10044T>G
6g.51747848A>GCA450613457PKHD1c.9768T>C (p.Pro3256=)
c.9639T>C (p.Pro3213=)
c.9630T>C (p.Pro3210=)
c.9126T>C (p.Pro3042=)
c.9057T>C (p.Pro3019=)
c.3843T>C (p.Pro1281=)
c.9693T>C (p.Pro3231=)
c.9573T>C (p.Pro3191=)
c.9504T>C (p.Pro3168=)
c.7908T>C (p.Pro2636=)
n.10044T>C
6g.51747848A>TCA450613458PKHD1c.9768T>A (p.Pro3256=)
c.9639T>A (p.Pro3213=)
c.9630T>A (p.Pro3210=)
c.9126T>A (p.Pro3042=)
c.9057T>A (p.Pro3019=)
c.3843T>A (p.Pro1281=)
c.9693T>A (p.Pro3231=)
c.9573T>A (p.Pro3191=)
c.9504T>A (p.Pro3168=)
c.7908T>A (p.Pro2636=)
n.10044T>A
6g.51747849G>ACA3851341PKHD1c.9767C>T (p.Pro3256Leu)
c.9638C>T (p.Pro3213Leu)
c.9629C>T (p.Pro3210Leu)
c.9125C>T (p.Pro3042Leu)
c.9056C>T (p.Pro3019Leu)
c.3842C>T (p.Pro1281Leu)
c.9692C>T (p.Pro3231Leu)
c.9572C>T (p.Pro3191Leu)
c.9503C>T (p.Pro3168Leu)
c.7907C>T (p.Pro2636Leu)
n.10043C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51747849G>CCA364420222PKHD1c.9767C>G (p.Pro3256Arg)
c.9638C>G (p.Pro3213Arg)
c.9629C>G (p.Pro3210Arg)
c.9125C>G (p.Pro3042Arg)
c.9056C>G (p.Pro3019Arg)
c.3842C>G (p.Pro1281Arg)
c.9692C>G (p.Pro3231Arg)
c.9572C>G (p.Pro3191Arg)
c.9503C>G (p.Pro3168Arg)
c.7907C>G (p.Pro2636Arg)
n.10043C>G
6g.51747849G=CA1628501904PKHD1c.9767C= (p.Pro3256=)
c.9638C= (p.Pro3213=)
c.9629C= (p.Pro3210=)
c.9125C= (p.Pro3042=)
c.9056C= (p.Pro3019=)
c.3842C= (p.Pro1281=)
c.9692C= (p.Pro3231=)
c.9572C= (p.Pro3191=)
c.9503C= (p.Pro3168=)
c.7907C= (p.Pro2636=)
n.10043C=
6g.51747849G>TCA364420223PKHD1c.9767C>A (p.Pro3256His)
c.9638C>A (p.Pro3213His)
c.9629C>A (p.Pro3210His)
c.9125C>A (p.Pro3042His)
c.9056C>A (p.Pro3019His)
c.3842C>A (p.Pro1281His)
c.9692C>A (p.Pro3231His)
c.9572C>A (p.Pro3191His)
c.9503C>A (p.Pro3168His)
c.7907C>A (p.Pro2636His)
n.10043C>A
 gnomAD v4
6g.51747850G>ACA364420226PKHD1c.9766C>T (p.Pro3256Ser)
c.9637C>T (p.Pro3213Ser)
c.9628C>T (p.Pro3210Ser)
c.9124C>T (p.Pro3042Ser)
c.9055C>T (p.Pro3019Ser)
c.3841C>T (p.Pro1281Ser)
c.9691C>T (p.Pro3231Ser)
c.9571C>T (p.Pro3191Ser)
c.9502C>T (p.Pro3168Ser)
c.7906C>T (p.Pro2636Ser)
n.10042C>T
 gnomAD v4
6g.51747850G>CCA364420229PKHD1c.9766C>G (p.Pro3256Ala)
c.9637C>G (p.Pro3213Ala)
c.9628C>G (p.Pro3210Ala)
c.9124C>G (p.Pro3042Ala)
c.9055C>G (p.Pro3019Ala)
c.3841C>G (p.Pro1281Ala)
c.9691C>G (p.Pro3231Ala)
c.9571C>G (p.Pro3191Ala)
c.9502C>G (p.Pro3168Ala)
c.7906C>G (p.Pro2636Ala)
n.10042C>G
6g.51747850G>TCA364420228PKHD1c.9766C>A (p.Pro3256Thr)
c.9637C>A (p.Pro3213Thr)
c.9628C>A (p.Pro3210Thr)
c.9124C>A (p.Pro3042Thr)
c.9055C>A (p.Pro3019Thr)
c.3841C>A (p.Pro1281Thr)
c.9691C>A (p.Pro3231Thr)
c.9571C>A (p.Pro3191Thr)
c.9502C>A (p.Pro3168Thr)
c.7906C>A (p.Pro2636Thr)
n.10042C>A
6g.51747851C>ACA364420230PKHD1c.9765G>T (p.Trp3255Cys)
c.9636G>T (p.Trp3212Cys)
c.9627G>T (p.Trp3209Cys)
c.9123G>T (p.Trp3041Cys)
c.9054G>T (p.Trp3018Cys)
c.3840G>T (p.Trp1280Cys)
c.9690G>T (p.Trp3230Cys)
c.9570G>T (p.Trp3190Cys)
c.9501G>T (p.Trp3167Cys)
c.7905G>T (p.Trp2635Cys)
n.10041G>T
6g.51747851C>GCA364420231PKHD1c.9765G>C (p.Trp3255Cys)
c.9636G>C (p.Trp3212Cys)
c.9627G>C (p.Trp3209Cys)
c.9123G>C (p.Trp3041Cys)
c.9054G>C (p.Trp3018Cys)
c.3840G>C (p.Trp1280Cys)
c.9690G>C (p.Trp3230Cys)
c.9570G>C (p.Trp3190Cys)
c.9501G>C (p.Trp3167Cys)
c.7905G>C (p.Trp2635Cys)
n.10041G>C
6g.51747851C>TCA364420233PKHD1c.9765G>A (p.Trp3255Ter)
c.9636G>A (p.Trp3212Ter)
c.9627G>A (p.Trp3209Ter)
c.9123G>A (p.Trp3041Ter)
c.9054G>A (p.Trp3018Ter)
c.3840G>A (p.Trp1280Ter)
c.9690G>A (p.Trp3230Ter)
c.9570G>A (p.Trp3190Ter)
c.9501G>A (p.Trp3167Ter)
c.7905G>A (p.Trp2635Ter)
n.10041G>A
6g.51747852C>ACA364420235PKHD1c.9764G>T (p.Trp3255Leu)
c.9635G>T (p.Trp3212Leu)
c.9626G>T (p.Trp3209Leu)
c.9122G>T (p.Trp3041Leu)
c.9053G>T (p.Trp3018Leu)
c.3839G>T (p.Trp1280Leu)
c.9689G>T (p.Trp3230Leu)
c.9569G>T (p.Trp3190Leu)
c.9500G>T (p.Trp3167Leu)
c.7904G>T (p.Trp2635Leu)
n.10040G>T
6g.51747852C>GCA364420237PKHD1c.9764G>C (p.Trp3255Ser)
c.9635G>C (p.Trp3212Ser)
c.9626G>C (p.Trp3209Ser)
c.9122G>C (p.Trp3041Ser)
c.9053G>C (p.Trp3018Ser)
c.3839G>C (p.Trp1280Ser)
c.9689G>C (p.Trp3230Ser)
c.9569G>C (p.Trp3190Ser)
c.9500G>C (p.Trp3167Ser)
c.7904G>C (p.Trp2635Ser)
n.10040G>C
6g.51747852C>TCA364420239PKHD1c.9764G>A (p.Trp3255Ter)
c.9635G>A (p.Trp3212Ter)
c.9626G>A (p.Trp3209Ter)
c.9122G>A (p.Trp3041Ter)
c.9053G>A (p.Trp3018Ter)
c.3839G>A (p.Trp1280Ter)
c.9689G>A (p.Trp3230Ter)
c.9569G>A (p.Trp3190Ter)
c.9500G>A (p.Trp3167Ter)
c.7904G>A (p.Trp2635Ter)
n.10040G>A
6g.51747853A>CCA364420242PKHD1c.9763T>G (p.Trp3255Gly)
c.9634T>G (p.Trp3212Gly)
c.9625T>G (p.Trp3209Gly)
c.9121T>G (p.Trp3041Gly)
c.9052T>G (p.Trp3018Gly)
c.3838T>G (p.Trp1280Gly)
c.9688T>G (p.Trp3230Gly)
c.9568T>G (p.Trp3190Gly)
c.9499T>G (p.Trp3167Gly)
c.7903T>G (p.Trp2635Gly)
n.10039T>G
6g.51747853A>GCA364420244PKHD1c.9763T>C (p.Trp3255Arg)
c.9634T>C (p.Trp3212Arg)
c.9625T>C (p.Trp3209Arg)
c.9121T>C (p.Trp3041Arg)
c.9052T>C (p.Trp3018Arg)
c.3838T>C (p.Trp1280Arg)
c.9688T>C (p.Trp3230Arg)
c.9568T>C (p.Trp3190Arg)
c.9499T>C (p.Trp3167Arg)
c.7903T>C (p.Trp2635Arg)
n.10039T>C
 COSMIC COSMIC
6g.51747853A>TCA364420245PKHD1c.9763T>A (p.Trp3255Arg)
c.9634T>A (p.Trp3212Arg)
c.9625T>A (p.Trp3209Arg)
c.9121T>A (p.Trp3041Arg)
c.9052T>A (p.Trp3018Arg)
c.3838T>A (p.Trp1280Arg)
c.9688T>A (p.Trp3230Arg)
c.9568T>A (p.Trp3190Arg)
c.9499T>A (p.Trp3167Arg)
c.7903T>A (p.Trp2635Arg)
n.10039T>A
6g.51747854C>ACA364420248PKHD1c.9762G>T (p.Gln3254His)
c.9633G>T (p.Gln3211His)
c.9624G>T (p.Gln3208His)
c.9120G>T (p.Gln3040His)
c.9051G>T (p.Gln3017His)
c.3837G>T (p.Gln1279His)
c.9687G>T (p.Gln3229His)
c.9567G>T (p.Gln3189His)
c.9498G>T (p.Gln3166His)
c.7902G>T (p.Gln2634His)
n.10038G>T
6g.51747854C=CA1628501907PKHD1c.9762G= (p.Gln3254=)
c.9633G= (p.Gln3211=)
c.9624G= (p.Gln3208=)
c.9120G= (p.Gln3040=)
c.9051G= (p.Gln3017=)
c.3837G= (p.Gln1279=)
c.9687G= (p.Gln3229=)
c.9567G= (p.Gln3189=)
c.9498G= (p.Gln3166=)
c.7902G= (p.Gln2634=)
n.10038G=
6g.51747854C>GCA364420249PKHD1c.9762G>C (p.Gln3254His)
c.9633G>C (p.Gln3211His)
c.9624G>C (p.Gln3208His)
c.9120G>C (p.Gln3040His)
c.9051G>C (p.Gln3017His)
c.3837G>C (p.Gln1279His)
c.9687G>C (p.Gln3229His)
c.9567G>C (p.Gln3189His)
c.9498G>C (p.Gln3166His)
c.7902G>C (p.Gln2634His)
n.10038G>C
6g.51747854C>TCA450613462PKHD1c.9762G>A (p.Gln3254=)
c.9633G>A (p.Gln3211=)
c.9624G>A (p.Gln3208=)
c.9120G>A (p.Gln3040=)
c.9051G>A (p.Gln3017=)
c.3837G>A (p.Gln1279=)
c.9687G>A (p.Gln3229=)
c.9567G>A (p.Gln3189=)
c.9498G>A (p.Gln3166=)
c.7902G>A (p.Gln2634=)
n.10038G>A
 dbSNP
6g.51747855T>ACA364420253PKHD1c.9761A>T (p.Gln3254Leu)
c.9632A>T (p.Gln3211Leu)
c.9623A>T (p.Gln3208Leu)
c.9119A>T (p.Gln3040Leu)
c.9050A>T (p.Gln3017Leu)
c.3836A>T (p.Gln1279Leu)
c.9686A>T (p.Gln3229Leu)
c.9566A>T (p.Gln3189Leu)
c.9497A>T (p.Gln3166Leu)
c.7901A>T (p.Gln2634Leu)
n.10037A>T
6g.51747855T>CCA364420252PKHD1c.9761A>G (p.Gln3254Arg)
c.9632A>G (p.Gln3211Arg)
c.9623A>G (p.Gln3208Arg)
c.9119A>G (p.Gln3040Arg)
c.9050A>G (p.Gln3017Arg)
c.3836A>G (p.Gln1279Arg)
c.9686A>G (p.Gln3229Arg)
c.9566A>G (p.Gln3189Arg)
c.9497A>G (p.Gln3166Arg)
c.7901A>G (p.Gln2634Arg)
n.10037A>G
 gnomAD v4
6g.51747855T>GCA364420251PKHD1c.9761A>C (p.Gln3254Pro)
c.9632A>C (p.Gln3211Pro)
c.9623A>C (p.Gln3208Pro)
c.9119A>C (p.Gln3040Pro)
c.9050A>C (p.Gln3017Pro)
c.3836A>C (p.Gln1279Pro)
c.9686A>C (p.Gln3229Pro)
c.9566A>C (p.Gln3189Pro)
c.9497A>C (p.Gln3166Pro)
c.7901A>C (p.Gln2634Pro)
n.10037A>C
6g.51747856G>ACA364420254PKHD1c.9760C>T (p.Gln3254Ter)
c.9631C>T (p.Gln3211Ter)
c.9622C>T (p.Gln3208Ter)
c.9118C>T (p.Gln3040Ter)
c.9049C>T (p.Gln3017Ter)
c.3835C>T (p.Gln1279Ter)
c.9685C>T (p.Gln3229Ter)
c.9565C>T (p.Gln3189Ter)
c.9496C>T (p.Gln3166Ter)
c.7900C>T (p.Gln2634Ter)
n.10036C>T
6g.51747856G>CCA364420256PKHD1c.9760C>G (p.Gln3254Glu)
c.9631C>G (p.Gln3211Glu)
c.9622C>G (p.Gln3208Glu)
c.9118C>G (p.Gln3040Glu)
c.9049C>G (p.Gln3017Glu)
c.3835C>G (p.Gln1279Glu)
c.9685C>G (p.Gln3229Glu)
c.9565C>G (p.Gln3189Glu)
c.9496C>G (p.Gln3166Glu)
c.7900C>G (p.Gln2634Glu)
n.10036C>G
 dbSNP gnomAD v3 gnomAD v4
6g.51747856G=CA1628501909PKHD1c.9760C= (p.Gln3254=)
c.9631C= (p.Gln3211=)
c.9622C= (p.Gln3208=)
c.9118C= (p.Gln3040=)
c.9049C= (p.Gln3017=)
c.3835C= (p.Gln1279=)
c.9685C= (p.Gln3229=)
c.9565C= (p.Gln3189=)
c.9496C= (p.Gln3166=)
c.7900C= (p.Gln2634=)
n.10036C=
6g.51747856G>TCA364420257PKHD1c.9760C>A (p.Gln3254Lys)
c.9631C>A (p.Gln3211Lys)
c.9622C>A (p.Gln3208Lys)
c.9118C>A (p.Gln3040Lys)
c.9049C>A (p.Gln3017Lys)
c.3835C>A (p.Gln1279Lys)
c.9685C>A (p.Gln3229Lys)
c.9565C>A (p.Gln3189Lys)
c.9496C>A (p.Gln3166Lys)
c.7900C>A (p.Gln2634Lys)
n.10036C>A
6g.51747857A=CA1628501912PKHD1c.9759T= (p.Asn3253=)
c.9630T= (p.Asn3210=)
c.9621T= (p.Asn3207=)
c.9117T= (p.Asn3039=)
c.9048T= (p.Asn3016=)
c.3834T= (p.Asn1278=)
c.9684T= (p.Asn3228=)
c.9564T= (p.Asn3188=)
c.9495T= (p.Asn3165=)
c.7899T= (p.Asn2633=)
n.10035T=
6g.51747857A>CCA364420258PKHD1c.9759T>G (p.Asn3253Lys)
c.9630T>G (p.Asn3210Lys)
c.9621T>G (p.Asn3207Lys)
c.9117T>G (p.Asn3039Lys)
c.9048T>G (p.Asn3016Lys)
c.3834T>G (p.Asn1278Lys)
c.9684T>G (p.Asn3228Lys)
c.9564T>G (p.Asn3188Lys)
c.9495T>G (p.Asn3165Lys)
c.7899T>G (p.Asn2633Lys)
n.10035T>G
6g.51747857A>GCA3851342PKHD1c.9759T>C (p.Asn3253=)
c.9630T>C (p.Asn3210=)
c.9621T>C (p.Asn3207=)
c.9117T>C (p.Asn3039=)
c.9048T>C (p.Asn3016=)
c.3834T>C (p.Asn1278=)
c.9684T>C (p.Asn3228=)
c.9564T>C (p.Asn3188=)
c.9495T>C (p.Asn3165=)
c.7899T>C (p.Asn2633=)
n.10035T>C
 dbSNP ExAC gnomAD v2
6g.51747857A>TCA364420261PKHD1c.9759T>A (p.Asn3253Lys)
c.9630T>A (p.Asn3210Lys)
c.9621T>A (p.Asn3207Lys)
c.9117T>A (p.Asn3039Lys)
c.9048T>A (p.Asn3016Lys)
c.3834T>A (p.Asn1278Lys)
c.9684T>A (p.Asn3228Lys)
c.9564T>A (p.Asn3188Lys)
c.9495T>A (p.Asn3165Lys)
c.7899T>A (p.Asn2633Lys)
n.10035T>A
6g.51747858T>ACA364420262PKHD1c.9758A>T (p.Asn3253Ile)
c.9629A>T (p.Asn3210Ile)
c.9620A>T (p.Asn3207Ile)
c.9116A>T (p.Asn3039Ile)
c.9047A>T (p.Asn3016Ile)
c.3833A>T (p.Asn1278Ile)
c.9683A>T (p.Asn3228Ile)
c.9563A>T (p.Asn3188Ile)
c.9494A>T (p.Asn3165Ile)
c.7898A>T (p.Asn2633Ile)
n.10034A>T
6g.51747858T>CCA364420263PKHD1c.9758A>G (p.Asn3253Ser)
c.9629A>G (p.Asn3210Ser)
c.9620A>G (p.Asn3207Ser)
c.9116A>G (p.Asn3039Ser)
c.9047A>G (p.Asn3016Ser)
c.3833A>G (p.Asn1278Ser)
c.9683A>G (p.Asn3228Ser)
c.9563A>G (p.Asn3188Ser)
c.9494A>G (p.Asn3165Ser)
c.7898A>G (p.Asn2633Ser)
n.10034A>G
6g.51747858T>GCA364420264PKHD1c.9758A>C (p.Asn3253Thr)
c.9629A>C (p.Asn3210Thr)
c.9620A>C (p.Asn3207Thr)
c.9116A>C (p.Asn3039Thr)
c.9047A>C (p.Asn3016Thr)
c.3833A>C (p.Asn1278Thr)
c.9683A>C (p.Asn3228Thr)
c.9563A>C (p.Asn3188Thr)
c.9494A>C (p.Asn3165Thr)
c.7898A>C (p.Asn2633Thr)
n.10034A>C
6g.51747859T>ACA364420267PKHD1c.9757A>T (p.Asn3253Tyr)
c.9628A>T (p.Asn3210Tyr)
c.9619A>T (p.Asn3207Tyr)
c.9115A>T (p.Asn3039Tyr)
c.9046A>T (p.Asn3016Tyr)
c.3832A>T (p.Asn1278Tyr)
c.9682A>T (p.Asn3228Tyr)
c.9562A>T (p.Asn3188Tyr)
c.9493A>T (p.Asn3165Tyr)
c.7897A>T (p.Asn2633Tyr)
n.10033A>T
6g.51747859T>CCA3851343PKHD1c.9757A>G (p.Asn3253Asp)
c.9628A>G (p.Asn3210Asp)
c.9619A>G (p.Asn3207Asp)
c.9115A>G (p.Asn3039Asp)
c.9046A>G (p.Asn3016Asp)
c.3832A>G (p.Asn1278Asp)
c.9682A>G (p.Asn3228Asp)
c.9562A>G (p.Asn3188Asp)
c.9493A>G (p.Asn3165Asp)
c.7897A>G (p.Asn2633Asp)
n.10033A>G
 dbSNP ExAC gnomAD v2
6g.51747859T>GCA364420269PKHD1c.9757A>C (p.Asn3253His)
c.9628A>C (p.Asn3210His)
c.9619A>C (p.Asn3207His)
c.9115A>C (p.Asn3039His)
c.9046A>C (p.Asn3016His)
c.3832A>C (p.Asn1278His)
c.9682A>C (p.Asn3228His)
c.9562A>C (p.Asn3188His)
c.9493A>C (p.Asn3165His)
c.7897A>C (p.Asn2633His)
n.10033A>C
 COSMIC COSMIC
6g.51747859T=CA1628501915PKHD1c.9757A= (p.Asn3253=)
c.9628A= (p.Asn3210=)
c.9619A= (p.Asn3207=)
c.9115A= (p.Asn3039=)
c.9046A= (p.Asn3016=)
c.3832A= (p.Asn1278=)
c.9682A= (p.Asn3228=)
c.9562A= (p.Asn3188=)
c.9493A= (p.Asn3165=)
c.7897A= (p.Asn2633=)
n.10033A=
6g.51747860T>ACA450613464PKHD1c.9756A>T (p.Pro3252=)
c.9627A>T (p.Pro3209=)
c.9618A>T (p.Pro3206=)
c.9114A>T (p.Pro3038=)
c.9045A>T (p.Pro3015=)
c.3831A>T (p.Pro1277=)
c.9681A>T (p.Pro3227=)
c.9561A>T (p.Pro3187=)
c.9492A>T (p.Pro3164=)
c.7896A>T (p.Pro2632=)
n.10032A>T
6g.51747860T>CCA138895857PKHD1c.9756A>G (p.Pro3252=)
c.9627A>G (p.Pro3209=)
c.9618A>G (p.Pro3206=)
c.9114A>G (p.Pro3038=)
c.9045A>G (p.Pro3015=)
c.3831A>G (p.Pro1277=)
c.9681A>G (p.Pro3227=)
c.9561A>G (p.Pro3187=)
c.9492A>G (p.Pro3164=)
c.7896A>G (p.Pro2632=)
n.10032A>G
 ClinVar dbSNP gnomAD v4
6g.51747860T>GCA450613466PKHD1c.9756A>C (p.Pro3252=)
c.9627A>C (p.Pro3209=)
c.9618A>C (p.Pro3206=)
c.9114A>C (p.Pro3038=)
c.9045A>C (p.Pro3015=)
c.3831A>C (p.Pro1277=)
c.9681A>C (p.Pro3227=)
c.9561A>C (p.Pro3187=)
c.9492A>C (p.Pro3164=)
c.7896A>C (p.Pro2632=)
n.10032A>C
6g.51747860T=CA1628501917PKHD1c.9756A= (p.Pro3252=)
c.9627A= (p.Pro3209=)
c.9618A= (p.Pro3206=)
c.9114A= (p.Pro3038=)
c.9045A= (p.Pro3015=)
c.3831A= (p.Pro1277=)
c.9681A= (p.Pro3227=)
c.9561A= (p.Pro3187=)
c.9492A= (p.Pro3164=)
c.7896A= (p.Pro2632=)
n.10032A=
6g.51747861G>ACA3851344PKHD1c.9755C>T (p.Pro3252Leu)
c.9626C>T (p.Pro3209Leu)
c.9617C>T (p.Pro3206Leu)
c.9113C>T (p.Pro3038Leu)
c.9044C>T (p.Pro3015Leu)
c.3830C>T (p.Pro1277Leu)
c.9680C>T (p.Pro3227Leu)
c.9560C>T (p.Pro3187Leu)
c.9491C>T (p.Pro3164Leu)
c.7895C>T (p.Pro2632Leu)
n.10031C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51747861G>CCA364420276PKHD1c.9755C>G (p.Pro3252Arg)
c.9626C>G (p.Pro3209Arg)
c.9617C>G (p.Pro3206Arg)
c.9113C>G (p.Pro3038Arg)
c.9044C>G (p.Pro3015Arg)
c.3830C>G (p.Pro1277Arg)
c.9680C>G (p.Pro3227Arg)
c.9560C>G (p.Pro3187Arg)
c.9491C>G (p.Pro3164Arg)
c.7895C>G (p.Pro2632Arg)
n.10031C>G
 dbSNP gnomAD v2 gnomAD v4
6g.51747861G=CA1628501921PKHD1c.9755C= (p.Pro3252=)
c.9626C= (p.Pro3209=)
c.9617C= (p.Pro3206=)
c.9113C= (p.Pro3038=)
c.9044C= (p.Pro3015=)
c.3830C= (p.Pro1277=)
c.9680C= (p.Pro3227=)
c.9560C= (p.Pro3187=)
c.9491C= (p.Pro3164=)
c.7895C= (p.Pro2632=)
n.10031C=
6g.51747861G>TCA364420273PKHD1c.9755C>A (p.Pro3252Gln)
c.9626C>A (p.Pro3209Gln)
c.9617C>A (p.Pro3206Gln)
c.9113C>A (p.Pro3038Gln)
c.9044C>A (p.Pro3015Gln)
c.3830C>A (p.Pro1277Gln)
c.9680C>A (p.Pro3227Gln)
c.9560C>A (p.Pro3187Gln)
c.9491C>A (p.Pro3164Gln)
c.7895C>A (p.Pro2632Gln)
n.10031C>A
 dbSNP gnomAD v2 gnomAD v4
6g.51747862delCA2679078627PKHD1c.9755del (p.Pro3252GlnfsTer12)
c.9626del (p.Pro3209GlnfsTer12)
c.9617del (p.Pro3206GlnfsTer12)
c.9113del (p.Pro3038GlnfsTer12)
c.9044del (p.Pro3015GlnfsTer12)
c.3830del (p.Pro1277GlnfsTer12)
c.9680del (p.Pro3227GlnfsTer12)
c.9560del (p.Pro3187GlnfsTer12)
c.9491del (p.Pro3164GlnfsTer12)
c.7895del (p.Pro2632GlnfsTer12)
n.10031del
 gnomAD v4
6g.51747862G>ACA3851345PKHD1c.9754C>T (p.Pro3252Ser)
c.9625C>T (p.Pro3209Ser)
c.9616C>T (p.Pro3206Ser)
c.9112C>T (p.Pro3038Ser)
c.9043C>T (p.Pro3015Ser)
c.3829C>T (p.Pro1277Ser)
c.9679C>T (p.Pro3227Ser)
c.9559C>T (p.Pro3187Ser)
c.9490C>T (p.Pro3164Ser)
c.7894C>T (p.Pro2632Ser)
n.10030C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51747862G>CCA364420278PKHD1c.9754C>G (p.Pro3252Ala)
c.9625C>G (p.Pro3209Ala)
c.9616C>G (p.Pro3206Ala)
c.9112C>G (p.Pro3038Ala)
c.9043C>G (p.Pro3015Ala)
c.3829C>G (p.Pro1277Ala)
c.9679C>G (p.Pro3227Ala)
c.9559C>G (p.Pro3187Ala)
c.9490C>G (p.Pro3164Ala)
c.7894C>G (p.Pro2632Ala)
n.10030C>G
6g.51747862G=CA1628501928PKHD1c.9754C= (p.Pro3252=)
c.9625C= (p.Pro3209=)
c.9616C= (p.Pro3206=)
c.9112C= (p.Pro3038=)
c.9043C= (p.Pro3015=)
c.3829C= (p.Pro1277=)
c.9679C= (p.Pro3227=)
c.9559C= (p.Pro3187=)
c.9490C= (p.Pro3164=)
c.7894C= (p.Pro2632=)
n.10030C=
6g.51747862G>TCA364420280PKHD1c.9754C>A (p.Pro3252Thr)
c.9625C>A (p.Pro3209Thr)
c.9616C>A (p.Pro3206Thr)
c.9112C>A (p.Pro3038Thr)
c.9043C>A (p.Pro3015Thr)
c.3829C>A (p.Pro1277Thr)
c.9679C>A (p.Pro3227Thr)
c.9559C>A (p.Pro3187Thr)
c.9490C>A (p.Pro3164Thr)
c.7894C>A (p.Pro2632Thr)
n.10030C>A
6g.51747863T>ACA364420283PKHD1c.9753A>T (p.Glu3251Asp)
c.9624A>T (p.Glu3208Asp)
c.9615A>T (p.Glu3205Asp)
c.9111A>T (p.Glu3037Asp)
c.9042A>T (p.Glu3014Asp)
c.3828A>T (p.Glu1276Asp)
c.9678A>T (p.Glu3226Asp)
c.9558A>T (p.Glu3186Asp)
c.9489A>T (p.Glu3163Asp)
c.7893A>T (p.Glu2631Asp)
n.10029A>T
6g.51747863T>CCA450613468PKHD1c.9753A>G (p.Glu3251=)
c.9624A>G (p.Glu3208=)
c.9615A>G (p.Glu3205=)
c.9111A>G (p.Glu3037=)
c.9042A>G (p.Glu3014=)
c.3828A>G (p.Glu1276=)
c.9678A>G (p.Glu3226=)
c.9558A>G (p.Glu3186=)
c.9489A>G (p.Glu3163=)
c.7893A>G (p.Glu2631=)
n.10029A>G
6g.51747863T>GCA364420285PKHD1c.9753A>C (p.Glu3251Asp)
c.9624A>C (p.Glu3208Asp)
c.9615A>C (p.Glu3205Asp)
c.9111A>C (p.Glu3037Asp)
c.9042A>C (p.Glu3014Asp)
c.3828A>C (p.Glu1276Asp)
c.9678A>C (p.Glu3226Asp)
c.9558A>C (p.Glu3186Asp)
c.9489A>C (p.Glu3163Asp)
c.7893A>C (p.Glu2631Asp)
n.10029A>C
6g.51747864T>ACA364420288PKHD1c.9752A>T (p.Glu3251Val)
c.9623A>T (p.Glu3208Val)
c.9614A>T (p.Glu3205Val)
c.9110A>T (p.Glu3037Val)
c.9041A>T (p.Glu3014Val)
c.3827A>T (p.Glu1276Val)
c.9677A>T (p.Glu3226Val)
c.9557A>T (p.Glu3186Val)
c.9488A>T (p.Glu3163Val)
c.7892A>T (p.Glu2631Val)
n.10028A>T
6g.51747864T>CCA364420294PKHD1c.9752A>G (p.Glu3251Gly)
c.9623A>G (p.Glu3208Gly)
c.9614A>G (p.Glu3205Gly)
c.9110A>G (p.Glu3037Gly)
c.9041A>G (p.Glu3014Gly)
c.3827A>G (p.Glu1276Gly)
c.9677A>G (p.Glu3226Gly)
c.9557A>G (p.Glu3186Gly)
c.9488A>G (p.Glu3163Gly)
c.7892A>G (p.Glu2631Gly)
n.10028A>G
6g.51747864T>GCA364420292PKHD1c.9752A>C (p.Glu3251Ala)
c.9623A>C (p.Glu3208Ala)
c.9614A>C (p.Glu3205Ala)
c.9110A>C (p.Glu3037Ala)
c.9041A>C (p.Glu3014Ala)
c.3827A>C (p.Glu1276Ala)
c.9677A>C (p.Glu3226Ala)
c.9557A>C (p.Glu3186Ala)
c.9488A>C (p.Glu3163Ala)
c.7892A>C (p.Glu2631Ala)
n.10028A>C
6g.51747865C>ACA364420296PKHD1c.9751G>T (p.Glu3251Ter)
c.9622G>T (p.Glu3208Ter)
c.9613G>T (p.Glu3205Ter)
c.9109G>T (p.Glu3037Ter)
c.9040G>T (p.Glu3014Ter)
c.3826G>T (p.Glu1276Ter)
c.9676G>T (p.Glu3226Ter)
c.9556G>T (p.Glu3186Ter)
c.9487G>T (p.Glu3163Ter)
c.7891G>T (p.Glu2631Ter)
n.10027G>T
 COSMIC COSMIC
6g.51747865C>GCA364420298PKHD1c.9751G>C (p.Glu3251Gln)
c.9622G>C (p.Glu3208Gln)
c.9613G>C (p.Glu3205Gln)
c.9109G>C (p.Glu3037Gln)
c.9040G>C (p.Glu3014Gln)
c.3826G>C (p.Glu1276Gln)
c.9676G>C (p.Glu3226Gln)
c.9556G>C (p.Glu3186Gln)
c.9487G>C (p.Glu3163Gln)
c.7891G>C (p.Glu2631Gln)
n.10027G>C
 gnomAD v4
6g.51747865C>TCA364420297PKHD1c.9751G>A (p.Glu3251Lys)
c.9622G>A (p.Glu3208Lys)
c.9613G>A (p.Glu3205Lys)
c.9109G>A (p.Glu3037Lys)
c.9040G>A (p.Glu3014Lys)
c.3826G>A (p.Glu1276Lys)
c.9676G>A (p.Glu3226Lys)
c.9556G>A (p.Glu3186Lys)
c.9487G>A (p.Glu3163Lys)
c.7891G>A (p.Glu2631Lys)
n.10027G>A
6g.51747865_51747866insACCA2679078628PKHD1c.9751_9752insTG (p.Glu3251ValfsTer14)
c.9622_9623insTG (p.Glu3208ValfsTer14)
c.9613_9614insTG (p.Glu3205ValfsTer14)
c.9109_9110insTG (p.Glu3037ValfsTer14)
c.9040_9041insTG (p.Glu3014ValfsTer14)
c.3826_3827insTG (p.Glu1276ValfsTer14)
c.9676_9677insTG (p.Glu3226ValfsTer14)
c.9556_9557insTG (p.Glu3186ValfsTer14)
c.9487_9488insTG (p.Glu3163ValfsTer14)
c.7891_7892insTG (p.Glu2631ValfsTer14)
n.10027_10028insTG
 gnomAD v4
6g.51747866T>ACA450613472PKHD1c.9750A>T (p.Ser3250=)
c.9621A>T (p.Ser3207=)
c.9612A>T (p.Ser3204=)
c.9108A>T (p.Ser3036=)
c.9039A>T (p.Ser3013=)
c.3825A>T (p.Ser1275=)
c.9675A>T (p.Ser3225=)
c.9555A>T (p.Ser3185=)
c.9486A>T (p.Ser3162=)
c.7890A>T (p.Ser2630=)
n.10026A>T
6g.51747866T>CCA450613473PKHD1c.9750A>G (p.Ser3250=)
c.9621A>G (p.Ser3207=)
c.9612A>G (p.Ser3204=)
c.9108A>G (p.Ser3036=)
c.9039A>G (p.Ser3013=)
c.3825A>G (p.Ser1275=)
c.9675A>G (p.Ser3225=)
c.9555A>G (p.Ser3185=)
c.9486A>G (p.Ser3162=)
c.7890A>G (p.Ser2630=)
n.10026A>G
6g.51747866T>GCA450613474PKHD1c.9750A>C (p.Ser3250=)
c.9621A>C (p.Ser3207=)
c.9612A>C (p.Ser3204=)
c.9108A>C (p.Ser3036=)
c.9039A>C (p.Ser3013=)
c.3825A>C (p.Ser1275=)
c.9675A>C (p.Ser3225=)
c.9555A>C (p.Ser3185=)
c.9486A>C (p.Ser3162=)
c.7890A>C (p.Ser2630=)
n.10026A>C
6g.51747867G>ACA364420301PKHD1c.9749C>T (p.Ser3250Leu)
c.9620C>T (p.Ser3207Leu)
c.9611C>T (p.Ser3204Leu)
c.9107C>T (p.Ser3036Leu)
c.9038C>T (p.Ser3013Leu)
c.3824C>T (p.Ser1275Leu)
c.9674C>T (p.Ser3225Leu)
c.9554C>T (p.Ser3185Leu)
c.9485C>T (p.Ser3162Leu)
c.7889C>T (p.Ser2630Leu)
n.10025C>T
 gnomAD v4
6g.51747867G>CCA3851346PKHD1c.9749C>G (p.Ser3250Ter)
c.9620C>G (p.Ser3207Ter)
c.9611C>G (p.Ser3204Ter)
c.9107C>G (p.Ser3036Ter)
c.9038C>G (p.Ser3013Ter)
c.3824C>G (p.Ser1275Ter)
c.9674C>G (p.Ser3225Ter)
c.9554C>G (p.Ser3185Ter)
c.9485C>G (p.Ser3162Ter)
c.7889C>G (p.Ser2630Ter)
n.10025C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51747867G=CA1628501933PKHD1c.9749C= (p.Ser3250=)
c.9620C= (p.Ser3207=)
c.9611C= (p.Ser3204=)
c.9107C= (p.Ser3036=)
c.9038C= (p.Ser3013=)
c.3824C= (p.Ser1275=)
c.9674C= (p.Ser3225=)
c.9554C= (p.Ser3185=)
c.9485C= (p.Ser3162=)
c.7889C= (p.Ser2630=)
n.10025C=
6g.51747867G>TCA364420303PKHD1c.9749C>A (p.Ser3250Ter)
c.9620C>A (p.Ser3207Ter)
c.9611C>A (p.Ser3204Ter)
c.9107C>A (p.Ser3036Ter)
c.9038C>A (p.Ser3013Ter)
c.3824C>A (p.Ser1275Ter)
c.9674C>A (p.Ser3225Ter)
c.9554C>A (p.Ser3185Ter)
c.9485C>A (p.Ser3162Ter)
c.7889C>A (p.Ser2630Ter)
n.10025C>A
 dbSNP COSMIC COSMIC
6g.51747868A>CCA364420307PKHD1c.9748T>G (p.Ser3250Ala)
c.9619T>G (p.Ser3207Ala)
c.9610T>G (p.Ser3204Ala)
c.9106T>G (p.Ser3036Ala)
c.9037T>G (p.Ser3013Ala)
c.3823T>G (p.Ser1275Ala)
c.9673T>G (p.Ser3225Ala)
c.9553T>G (p.Ser3185Ala)
c.9484T>G (p.Ser3162Ala)
c.7888T>G (p.Ser2630Ala)
n.10024T>G
6g.51747868A>GCA364420309PKHD1c.9748T>C (p.Ser3250Pro)
c.9619T>C (p.Ser3207Pro)
c.9610T>C (p.Ser3204Pro)
c.9106T>C (p.Ser3036Pro)
c.9037T>C (p.Ser3013Pro)
c.3823T>C (p.Ser1275Pro)
c.9673T>C (p.Ser3225Pro)
c.9553T>C (p.Ser3185Pro)
c.9484T>C (p.Ser3162Pro)
c.7888T>C (p.Ser2630Pro)
n.10024T>C
6g.51747868A>TCA364420310PKHD1c.9748T>A (p.Ser3250Thr)
c.9619T>A (p.Ser3207Thr)
c.9610T>A (p.Ser3204Thr)
c.9106T>A (p.Ser3036Thr)
c.9037T>A (p.Ser3013Thr)
c.3823T>A (p.Ser1275Thr)
c.9673T>A (p.Ser3225Thr)
c.9553T>A (p.Ser3185Thr)
c.9484T>A (p.Ser3162Thr)
c.7888T>A (p.Ser2630Thr)
n.10024T>A
6g.51747869G>ACA450613475PKHD1c.9747C>T (p.Thr3249=)
c.9618C>T (p.Thr3206=)
c.9609C>T (p.Thr3203=)
c.9105C>T (p.Thr3035=)
c.9036C>T (p.Thr3012=)
c.3822C>T (p.Thr1274=)
c.9672C>T (p.Thr3224=)
c.9552C>T (p.Thr3184=)
c.9483C>T (p.Thr3161=)
c.7887C>T (p.Thr2629=)
n.10023C>T
6g.51747869G>CCA450613476PKHD1c.9747C>G (p.Thr3249=)
c.9618C>G (p.Thr3206=)
c.9609C>G (p.Thr3203=)
c.9105C>G (p.Thr3035=)
c.9036C>G (p.Thr3012=)
c.3822C>G (p.Thr1274=)
c.9672C>G (p.Thr3224=)
c.9552C>G (p.Thr3184=)
c.9483C>G (p.Thr3161=)
c.7887C>G (p.Thr2629=)
n.10023C>G
6g.51747869G=CA1628501937PKHD1c.9747C= (p.Thr3249=)
c.9618C= (p.Thr3206=)
c.9609C= (p.Thr3203=)
c.9105C= (p.Thr3035=)
c.9036C= (p.Thr3012=)
c.3822C= (p.Thr1274=)
c.9672C= (p.Thr3224=)
c.9552C= (p.Thr3184=)
c.9483C= (p.Thr3161=)
c.7887C= (p.Thr2629=)
n.10023C=
6g.51747869G>TCA450613477PKHD1c.9747C>A (p.Thr3249=)
c.9618C>A (p.Thr3206=)
c.9609C>A (p.Thr3203=)
c.9105C>A (p.Thr3035=)
c.9036C>A (p.Thr3012=)
c.3822C>A (p.Thr1274=)
c.9672C>A (p.Thr3224=)
c.9552C>A (p.Thr3184=)
c.9483C>A (p.Thr3161=)
c.7887C>A (p.Thr2629=)
n.10023C>A
 ClinVar dbSNP gnomAD v4
6g.51747870G>ACA364420312PKHD1c.9746C>T (p.Thr3249Ile)
c.9617C>T (p.Thr3206Ile)
c.9608C>T (p.Thr3203Ile)
c.9104C>T (p.Thr3035Ile)
c.9035C>T (p.Thr3012Ile)
c.3821C>T (p.Thr1274Ile)
c.9671C>T (p.Thr3224Ile)
c.9551C>T (p.Thr3184Ile)
c.9482C>T (p.Thr3161Ile)
c.7886C>T (p.Thr2629Ile)
n.10022C>T
 gnomAD v4
6g.51747870G>CCA364420316PKHD1c.9746C>G (p.Thr3249Ser)
c.9617C>G (p.Thr3206Ser)
c.9608C>G (p.Thr3203Ser)
c.9104C>G (p.Thr3035Ser)
c.9035C>G (p.Thr3012Ser)
c.3821C>G (p.Thr1274Ser)
c.9671C>G (p.Thr3224Ser)
c.9551C>G (p.Thr3184Ser)
c.9482C>G (p.Thr3161Ser)
c.7886C>G (p.Thr2629Ser)
n.10022C>G
6g.51747870G=CA1628501939PKHD1c.9746C= (p.Thr3249=)
c.9617C= (p.Thr3206=)
c.9608C= (p.Thr3203=)
c.9104C= (p.Thr3035=)
c.9035C= (p.Thr3012=)
c.3821C= (p.Thr1274=)
c.9671C= (p.Thr3224=)
c.9551C= (p.Thr3184=)
c.9482C= (p.Thr3161=)
c.7886C= (p.Thr2629=)
n.10022C=
6g.51747870G>TCA364420318PKHD1c.9746C>A (p.Thr3249Asn)
c.9617C>A (p.Thr3206Asn)
c.9608C>A (p.Thr3203Asn)
c.9104C>A (p.Thr3035Asn)
c.9035C>A (p.Thr3012Asn)
c.3821C>A (p.Thr1274Asn)
c.9671C>A (p.Thr3224Asn)
c.9551C>A (p.Thr3184Asn)
c.9482C>A (p.Thr3161Asn)
c.7886C>A (p.Thr2629Asn)
n.10022C>A
 dbSNP gnomAD v2 gnomAD v4
6g.51747871T>ACA364420321PKHD1c.9745A>T (p.Thr3249Ser)
c.9616A>T (p.Thr3206Ser)
c.9607A>T (p.Thr3203Ser)
c.9103A>T (p.Thr3035Ser)
c.9034A>T (p.Thr3012Ser)
c.3820A>T (p.Thr1274Ser)
c.9670A>T (p.Thr3224Ser)
c.9550A>T (p.Thr3184Ser)
c.9481A>T (p.Thr3161Ser)
c.7885A>T (p.Thr2629Ser)
n.10021A>T
6g.51747871T>CCA364420322PKHD1c.9745A>G (p.Thr3249Ala)
c.9616A>G (p.Thr3206Ala)
c.9607A>G (p.Thr3203Ala)
c.9103A>G (p.Thr3035Ala)
c.9034A>G (p.Thr3012Ala)
c.3820A>G (p.Thr1274Ala)
c.9670A>G (p.Thr3224Ala)
c.9550A>G (p.Thr3184Ala)
c.9481A>G (p.Thr3161Ala)
c.7885A>G (p.Thr2629Ala)
n.10021A>G
6g.51747871T>GCA364420323PKHD1c.9745A>C (p.Thr3249Pro)
c.9616A>C (p.Thr3206Pro)
c.9607A>C (p.Thr3203Pro)
c.9103A>C (p.Thr3035Pro)
c.9034A>C (p.Thr3012Pro)
c.3820A>C (p.Thr1274Pro)
c.9670A>C (p.Thr3224Pro)
c.9550A>C (p.Thr3184Pro)
c.9481A>C (p.Thr3161Pro)
c.7885A>C (p.Thr2629Pro)
n.10021A>C
6g.51747872G>ACA450613479PKHD1c.9744C>T (p.Phe3248=)
c.9615C>T (p.Phe3205=)
c.9606C>T (p.Phe3202=)
c.9102C>T (p.Phe3034=)
c.9033C>T (p.Phe3011=)
c.3819C>T (p.Phe1273=)
c.9669C>T (p.Phe3223=)
c.9549C>T (p.Phe3183=)
c.9480C>T (p.Phe3160=)
c.7884C>T (p.Phe2628=)
n.10020C>T
 ClinVar COSMIC COSMIC
6g.51747872G>CCA364420326PKHD1c.9744C>G (p.Phe3248Leu)
c.9615C>G (p.Phe3205Leu)
c.9606C>G (p.Phe3202Leu)
c.9102C>G (p.Phe3034Leu)
c.9033C>G (p.Phe3011Leu)
c.3819C>G (p.Phe1273Leu)
c.9669C>G (p.Phe3223Leu)
c.9549C>G (p.Phe3183Leu)
c.9480C>G (p.Phe3160Leu)
c.7884C>G (p.Phe2628Leu)
n.10020C>G
6g.51747872G>TCA364420328PKHD1c.9744C>A (p.Phe3248Leu)
c.9615C>A (p.Phe3205Leu)
c.9606C>A (p.Phe3202Leu)
c.9102C>A (p.Phe3034Leu)
c.9033C>A (p.Phe3011Leu)
c.3819C>A (p.Phe1273Leu)
c.9669C>A (p.Phe3223Leu)
c.9549C>A (p.Phe3183Leu)
c.9480C>A (p.Phe3160Leu)
c.7884C>A (p.Phe2628Leu)
n.10020C>A
6g.51747872_51747873delinsGACA1628501940PKHD1c.9743_9744delinsTC (p.Phe3248=)
c.9614_9615delinsTC (p.Phe3205=)
c.9605_9606delinsTC (p.Phe3202=)
c.9101_9102delinsTC (p.Phe3034=)
c.9032_9033delinsTC (p.Phe3011=)
c.3818_3819delinsTC (p.Phe1273=)
c.9668_9669delinsTC (p.Phe3223=)
c.9548_9549delinsTC (p.Phe3183=)
c.9479_9480delinsTC (p.Phe3160=)
c.7883_7884delinsTC (p.Phe2628=)
n.10019_10020delinsTC
6g.51747873A>CCA364420334PKHD1c.9743T>G (p.Phe3248Cys)
c.9614T>G (p.Phe3205Cys)
c.9605T>G (p.Phe3202Cys)
c.9101T>G (p.Phe3034Cys)
c.9032T>G (p.Phe3011Cys)
c.3818T>G (p.Phe1273Cys)
c.9668T>G (p.Phe3223Cys)
c.9548T>G (p.Phe3183Cys)
c.9479T>G (p.Phe3160Cys)
c.7883T>G (p.Phe2628Cys)
n.10019T>G
6g.51747873A>GCA364420332PKHD1c.9743T>C (p.Phe3248Ser)
c.9614T>C (p.Phe3205Ser)
c.9605T>C (p.Phe3202Ser)
c.9101T>C (p.Phe3034Ser)
c.9032T>C (p.Phe3011Ser)
c.3818T>C (p.Phe1273Ser)
c.9668T>C (p.Phe3223Ser)
c.9548T>C (p.Phe3183Ser)
c.9479T>C (p.Phe3160Ser)
c.7883T>C (p.Phe2628Ser)
n.10019T>C
6g.51747873A>TCA364420330PKHD1c.9743T>A (p.Phe3248Tyr)
c.9614T>A (p.Phe3205Tyr)
c.9605T>A (p.Phe3202Tyr)
c.9101T>A (p.Phe3034Tyr)
c.9032T>A (p.Phe3011Tyr)
c.3818T>A (p.Phe1273Tyr)
c.9668T>A (p.Phe3223Tyr)
c.9548T>A (p.Phe3183Tyr)
c.9479T>A (p.Phe3160Tyr)
c.7883T>A (p.Phe2628Tyr)
n.10019T>A
6g.51747874delCA3851347PKHD1c.9743del (p.Phe3248SerfsTer16)
c.9614del (p.Phe3205SerfsTer16)
c.9605del (p.Phe3202SerfsTer16)
c.9101del (p.Phe3034SerfsTer16)
c.9032del (p.Phe3011SerfsTer16)
c.3818del (p.Phe1273SerfsTer16)
c.9668del (p.Phe3223SerfsTer16)
c.9548del (p.Phe3183SerfsTer16)
c.9479del (p.Phe3160SerfsTer16)
c.7883del (p.Phe2628SerfsTer16)
n.10019del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51747874A>CCA364420336PKHD1c.9742T>G (p.Phe3248Val)
c.9613T>G (p.Phe3205Val)
c.9604T>G (p.Phe3202Val)
c.9100T>G (p.Phe3034Val)
c.9031T>G (p.Phe3011Val)
c.3817T>G (p.Phe1273Val)
c.9667T>G (p.Phe3223Val)
c.9547T>G (p.Phe3183Val)
c.9478T>G (p.Phe3160Val)
c.7882T>G (p.Phe2628Val)
n.10018T>G
6g.51747874A>GCA364420338PKHD1c.9742T>C (p.Phe3248Leu)
c.9613T>C (p.Phe3205Leu)
c.9604T>C (p.Phe3202Leu)
c.9100T>C (p.Phe3034Leu)
c.9031T>C (p.Phe3011Leu)
c.3817T>C (p.Phe1273Leu)
c.9667T>C (p.Phe3223Leu)
c.9547T>C (p.Phe3183Leu)
c.9478T>C (p.Phe3160Leu)
c.7882T>C (p.Phe2628Leu)
n.10018T>C
6g.51747874A>TCA364420340PKHD1c.9742T>A (p.Phe3248Ile)
c.9613T>A (p.Phe3205Ile)
c.9604T>A (p.Phe3202Ile)
c.9100T>A (p.Phe3034Ile)
c.9031T>A (p.Phe3011Ile)
c.3817T>A (p.Phe1273Ile)
c.9667T>A (p.Phe3223Ile)
c.9547T>A (p.Phe3183Ile)
c.9478T>A (p.Phe3160Ile)
c.7882T>A (p.Phe2628Ile)
n.10018T>A
6g.51747875T>ACA450613481PKHD1c.9741A>T (p.Val3247=)
c.9612A>T (p.Val3204=)
c.9603A>T (p.Val3201=)
c.9099A>T (p.Val3033=)
c.9030A>T (p.Val3010=)
c.3816A>T (p.Val1272=)
c.9666A>T (p.Val3222=)
c.9546A>T (p.Val3182=)
c.9477A>T (p.Val3159=)
c.7881A>T (p.Val2627=)
n.10017A>T
6g.51747875T>CCA450613482PKHD1c.9741A>G (p.Val3247=)
c.9612A>G (p.Val3204=)
c.9603A>G (p.Val3201=)
c.9099A>G (p.Val3033=)
c.9030A>G (p.Val3010=)
c.3816A>G (p.Val1272=)
c.9666A>G (p.Val3222=)
c.9546A>G (p.Val3182=)
c.9477A>G (p.Val3159=)
c.7881A>G (p.Val2627=)
n.10017A>G
6g.51747875T>GCA450613483PKHD1c.9741A>C (p.Val3247=)
c.9612A>C (p.Val3204=)
c.9603A>C (p.Val3201=)
c.9099A>C (p.Val3033=)
c.9030A>C (p.Val3010=)
c.3816A>C (p.Val1272=)
c.9666A>C (p.Val3222=)
c.9546A>C (p.Val3182=)
c.9477A>C (p.Val3159=)
c.7881A>C (p.Val2627=)
n.10017A>C
6g.51747876A=CA1628501947PKHD1c.9740T= (p.Val3247=)
c.9611T= (p.Val3204=)
c.9602T= (p.Val3201=)
c.9098T= (p.Val3033=)
c.9029T= (p.Val3010=)
c.3815T= (p.Val1272=)
c.9665T= (p.Val3222=)
c.9545T= (p.Val3182=)
c.9476T= (p.Val3159=)
c.7880T= (p.Val2627=)
n.10016T=
6g.51747876A>CCA364420342PKHD1c.9740T>G (p.Val3247Gly)
c.9611T>G (p.Val3204Gly)
c.9602T>G (p.Val3201Gly)
c.9098T>G (p.Val3033Gly)
c.9029T>G (p.Val3010Gly)
c.3815T>G (p.Val1272Gly)
c.9665T>G (p.Val3222Gly)
c.9545T>G (p.Val3182Gly)
c.9476T>G (p.Val3159Gly)
c.7880T>G (p.Val2627Gly)
n.10016T>G
6g.51747876A>GCA364420345PKHD1c.9740T>C (p.Val3247Ala)
c.9611T>C (p.Val3204Ala)
c.9602T>C (p.Val3201Ala)
c.9098T>C (p.Val3033Ala)
c.9029T>C (p.Val3010Ala)
c.3815T>C (p.Val1272Ala)
c.9665T>C (p.Val3222Ala)
c.9545T>C (p.Val3182Ala)
c.9476T>C (p.Val3159Ala)
c.7880T>C (p.Val2627Ala)
n.10016T>C
 dbSNP gnomAD v4
6g.51747876A>TCA364420346PKHD1c.9740T>A (p.Val3247Glu)
c.9611T>A (p.Val3204Glu)
c.9602T>A (p.Val3201Glu)
c.9098T>A (p.Val3033Glu)
c.9029T>A (p.Val3010Glu)
c.3815T>A (p.Val1272Glu)
c.9665T>A (p.Val3222Glu)
c.9545T>A (p.Val3182Glu)
c.9476T>A (p.Val3159Glu)
c.7880T>A (p.Val2627Glu)
n.10016T>A
6g.51747877C>ACA364420349PKHD1c.9739G>T (p.Val3247Leu)
c.9610G>T (p.Val3204Leu)
c.9601G>T (p.Val3201Leu)
c.9097G>T (p.Val3033Leu)
c.9028G>T (p.Val3010Leu)
c.3814G>T (p.Val1272Leu)
c.9664G>T (p.Val3222Leu)
c.9544G>T (p.Val3182Leu)
c.9475G>T (p.Val3159Leu)
c.7879G>T (p.Val2627Leu)
n.10015G>T
6g.51747877C>GCA364420351PKHD1c.9739G>C (p.Val3247Leu)
c.9610G>C (p.Val3204Leu)
c.9601G>C (p.Val3201Leu)
c.9097G>C (p.Val3033Leu)
c.9028G>C (p.Val3010Leu)
c.3814G>C (p.Val1272Leu)
c.9664G>C (p.Val3222Leu)
c.9544G>C (p.Val3182Leu)
c.9475G>C (p.Val3159Leu)
c.7879G>C (p.Val2627Leu)
n.10015G>C
 ClinVar dbSNP gnomAD v4
6g.51747877C>TCA364420356PKHD1c.9739G>A (p.Val3247Ile)
c.9610G>A (p.Val3204Ile)
c.9601G>A (p.Val3201Ile)
c.9097G>A (p.Val3033Ile)
c.9028G>A (p.Val3010Ile)
c.3814G>A (p.Val1272Ile)
c.9664G>A (p.Val3222Ile)
c.9544G>A (p.Val3182Ile)
c.9475G>A (p.Val3159Ile)
c.7879G>A (p.Val2627Ile)
n.10015G>A
 gnomAD v4
6g.51747878A>CCA450613487PKHD1c.9738T>G (p.Pro3246=)
c.9609T>G (p.Pro3203=)
c.9600T>G (p.Pro3200=)
c.9096T>G (p.Pro3032=)
c.9027T>G (p.Pro3009=)
c.3813T>G (p.Pro1271=)
c.9663T>G (p.Pro3221=)
c.9543T>G (p.Pro3181=)
c.9474T>G (p.Pro3158=)
c.7878T>G (p.Pro2626=)
n.10014T>G
6g.51747878A>GCA450613488PKHD1c.9738T>C (p.Pro3246=)
c.9609T>C (p.Pro3203=)
c.9600T>C (p.Pro3200=)
c.9096T>C (p.Pro3032=)
c.9027T>C (p.Pro3009=)
c.3813T>C (p.Pro1271=)
c.9663T>C (p.Pro3221=)
c.9543T>C (p.Pro3181=)
c.9474T>C (p.Pro3158=)
c.7878T>C (p.Pro2626=)
n.10014T>C
 gnomAD v4
6g.51747878A>TCA450613489PKHD1c.9738T>A (p.Pro3246=)
c.9609T>A (p.Pro3203=)
c.9600T>A (p.Pro3200=)
c.9096T>A (p.Pro3032=)
c.9027T>A (p.Pro3009=)
c.3813T>A (p.Pro1271=)
c.9663T>A (p.Pro3221=)
c.9543T>A (p.Pro3181=)
c.9474T>A (p.Pro3158=)
c.7878T>A (p.Pro2626=)
n.10014T>A
6g.51747879G>ACA364420358PKHD1c.9737C>T (p.Pro3246Leu)
c.9608C>T (p.Pro3203Leu)
c.9599C>T (p.Pro3200Leu)
c.9095C>T (p.Pro3032Leu)
c.9026C>T (p.Pro3009Leu)
c.3812C>T (p.Pro1271Leu)
c.9662C>T (p.Pro3221Leu)
c.9542C>T (p.Pro3181Leu)
c.9473C>T (p.Pro3158Leu)
c.7877C>T (p.Pro2626Leu)
n.10013C>T
 dbSNP COSMIC COSMIC
6g.51747879G>CCA364420360PKHD1c.9737C>G (p.Pro3246Arg)
c.9608C>G (p.Pro3203Arg)
c.9599C>G (p.Pro3200Arg)
c.9095C>G (p.Pro3032Arg)
c.9026C>G (p.Pro3009Arg)
c.3812C>G (p.Pro1271Arg)
c.9662C>G (p.Pro3221Arg)
c.9542C>G (p.Pro3181Arg)
c.9473C>G (p.Pro3158Arg)
c.7877C>G (p.Pro2626Arg)
n.10013C>G
6g.51747879G=CA1628501950PKHD1c.9737C= (p.Pro3246=)
c.9608C= (p.Pro3203=)
c.9599C= (p.Pro3200=)
c.9095C= (p.Pro3032=)
c.9026C= (p.Pro3009=)
c.3812C= (p.Pro1271=)
c.9662C= (p.Pro3221=)
c.9542C= (p.Pro3181=)
c.9473C= (p.Pro3158=)
c.7877C= (p.Pro2626=)
n.10013C=
6g.51747879G>TCA364420361PKHD1c.9737C>A (p.Pro3246His)
c.9608C>A (p.Pro3203His)
c.9599C>A (p.Pro3200His)
c.9095C>A (p.Pro3032His)
c.9026C>A (p.Pro3009His)
c.3812C>A (p.Pro1271His)
c.9662C>A (p.Pro3221His)
c.9542C>A (p.Pro3181His)
c.9473C>A (p.Pro3158His)
c.7877C>A (p.Pro2626His)
n.10013C>A
6g.51747880G>ACA364420367PKHD1c.9736C>T (p.Pro3246Ser)
c.9607C>T (p.Pro3203Ser)
c.9598C>T (p.Pro3200Ser)
c.9094C>T (p.Pro3032Ser)
c.9025C>T (p.Pro3009Ser)
c.3811C>T (p.Pro1271Ser)
c.9661C>T (p.Pro3221Ser)
c.9541C>T (p.Pro3181Ser)
c.9472C>T (p.Pro3158Ser)
c.7876C>T (p.Pro2626Ser)
n.10012C>T
6g.51747880G>CCA3851348PKHD1c.9736C>G (p.Pro3246Ala)
c.9607C>G (p.Pro3203Ala)
c.9598C>G (p.Pro3200Ala)
c.9094C>G (p.Pro3032Ala)
c.9025C>G (p.Pro3009Ala)
c.3811C>G (p.Pro1271Ala)
c.9661C>G (p.Pro3221Ala)
c.9541C>G (p.Pro3181Ala)
c.9472C>G (p.Pro3158Ala)
c.7876C>G (p.Pro2626Ala)
n.10012C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51747880G=CA1628501951PKHD1c.9736C= (p.Pro3246=)
c.9607C= (p.Pro3203=)
c.9598C= (p.Pro3200=)
c.9094C= (p.Pro3032=)
c.9025C= (p.Pro3009=)
c.3811C= (p.Pro1271=)
c.9661C= (p.Pro3221=)
c.9541C= (p.Pro3181=)
c.9472C= (p.Pro3158=)
c.7876C= (p.Pro2626=)
n.10012C=
6g.51747880G>TCA364420364PKHD1c.9736C>A (p.Pro3246Thr)
c.9607C>A (p.Pro3203Thr)
c.9598C>A (p.Pro3200Thr)
c.9094C>A (p.Pro3032Thr)
c.9025C>A (p.Pro3009Thr)
c.3811C>A (p.Pro1271Thr)
c.9661C>A (p.Pro3221Thr)
c.9541C>A (p.Pro3181Thr)
c.9472C>A (p.Pro3158Thr)
c.7876C>A (p.Pro2626Thr)
n.10012C>A
6g.51747881C>ACA364420372PKHD1c.9735G>T (p.Trp3245Cys)
c.9606G>T (p.Trp3202Cys)
c.9597G>T (p.Trp3199Cys)
c.9093G>T (p.Trp3031Cys)
c.9024G>T (p.Trp3008Cys)
c.3810G>T (p.Trp1270Cys)
c.9660G>T (p.Trp3220Cys)
c.9540G>T (p.Trp3180Cys)
c.9471G>T (p.Trp3157Cys)
c.7875G>T (p.Trp2625Cys)
n.10011G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51747881C=CA1628501954PKHD1c.9735G= (p.Trp3245=)
c.9606G= (p.Trp3202=)
c.9597G= (p.Trp3199=)
c.9093G= (p.Trp3031=)
c.9024G= (p.Trp3008=)
c.3810G= (p.Trp1270=)
c.9660G= (p.Trp3220=)
c.9540G= (p.Trp3180=)
c.9471G= (p.Trp3157=)
c.7875G= (p.Trp2625=)
n.10011G=
6g.51747881C>GCA364420369PKHD1c.9735G>C (p.Trp3245Cys)
c.9606G>C (p.Trp3202Cys)
c.9597G>C (p.Trp3199Cys)
c.9093G>C (p.Trp3031Cys)
c.9024G>C (p.Trp3008Cys)
c.3810G>C (p.Trp1270Cys)
c.9660G>C (p.Trp3220Cys)
c.9540G>C (p.Trp3180Cys)
c.9471G>C (p.Trp3157Cys)
c.7875G>C (p.Trp2625Cys)
n.10011G>C
6g.51747881C>TCA364420374PKHD1c.9735G>A (p.Trp3245Ter)
c.9606G>A (p.Trp3202Ter)
c.9597G>A (p.Trp3199Ter)
c.9093G>A (p.Trp3031Ter)
c.9024G>A (p.Trp3008Ter)
c.3810G>A (p.Trp1270Ter)
c.9660G>A (p.Trp3220Ter)
c.9540G>A (p.Trp3180Ter)
c.9471G>A (p.Trp3157Ter)
c.7875G>A (p.Trp2625Ter)
n.10011G>A
 ClinVar
6g.51747882C>ACA364420376PKHD1c.9734G>T (p.Trp3245Leu)
c.9605G>T (p.Trp3202Leu)
c.9596G>T (p.Trp3199Leu)
c.9092G>T (p.Trp3031Leu)
c.9023G>T (p.Trp3008Leu)
c.3809G>T (p.Trp1270Leu)
c.9659G>T (p.Trp3220Leu)
c.9539G>T (p.Trp3180Leu)
c.9470G>T (p.Trp3157Leu)
c.7874G>T (p.Trp2625Leu)
n.10010G>T
6g.51747882C>GCA364420378PKHD1c.9734G>C (p.Trp3245Ser)
c.9605G>C (p.Trp3202Ser)
c.9596G>C (p.Trp3199Ser)
c.9092G>C (p.Trp3031Ser)
c.9023G>C (p.Trp3008Ser)
c.3809G>C (p.Trp1270Ser)
c.9659G>C (p.Trp3220Ser)
c.9539G>C (p.Trp3180Ser)
c.9470G>C (p.Trp3157Ser)
c.7874G>C (p.Trp2625Ser)
n.10010G>C
6g.51747882C>TCA364420380PKHD1c.9734G>A (p.Trp3245Ter)
c.9605G>A (p.Trp3202Ter)
c.9596G>A (p.Trp3199Ter)
c.9092G>A (p.Trp3031Ter)
c.9023G>A (p.Trp3008Ter)
c.3809G>A (p.Trp1270Ter)
c.9659G>A (p.Trp3220Ter)
c.9539G>A (p.Trp3180Ter)
c.9470G>A (p.Trp3157Ter)
c.7874G>A (p.Trp2625Ter)
n.10010G>A
6g.51747883A>CCA364420382PKHD1c.9733T>G (p.Trp3245Gly)
c.9604T>G (p.Trp3202Gly)
c.9595T>G (p.Trp3199Gly)
c.9091T>G (p.Trp3031Gly)
c.9022T>G (p.Trp3008Gly)
c.3808T>G (p.Trp1270Gly)
c.9658T>G (p.Trp3220Gly)
c.9538T>G (p.Trp3180Gly)
c.9469T>G (p.Trp3157Gly)
c.7873T>G (p.Trp2625Gly)
n.10009T>G
6g.51747883A>GCA364420384PKHD1c.9733T>C (p.Trp3245Arg)
c.9604T>C (p.Trp3202Arg)
c.9595T>C (p.Trp3199Arg)
c.9091T>C (p.Trp3031Arg)
c.9022T>C (p.Trp3008Arg)
c.3808T>C (p.Trp1270Arg)
c.9658T>C (p.Trp3220Arg)
c.9538T>C (p.Trp3180Arg)
c.9469T>C (p.Trp3157Arg)
c.7873T>C (p.Trp2625Arg)
n.10009T>C
6g.51747883A>TCA364420385PKHD1c.9733T>A (p.Trp3245Arg)
c.9604T>A (p.Trp3202Arg)
c.9595T>A (p.Trp3199Arg)
c.9091T>A (p.Trp3031Arg)
c.9022T>A (p.Trp3008Arg)
c.3808T>A (p.Trp1270Arg)
c.9658T>A (p.Trp3220Arg)
c.9538T>A (p.Trp3180Arg)
c.9469T>A (p.Trp3157Arg)
c.7873T>A (p.Trp2625Arg)
n.10009T>A
6g.51747884C>ACA450613492PKHD1c.9732G>T (p.Leu3244=)
c.9603G>T (p.Leu3201=)
c.9594G>T (p.Leu3198=)
c.9090G>T (p.Leu3030=)
c.9021G>T (p.Leu3007=)
c.3807G>T (p.Leu1269=)
c.9657G>T (p.Leu3219=)
c.9537G>T (p.Leu3179=)
c.9468G>T (p.Leu3156=)
c.7872G>T (p.Leu2624=)
n.10008G>T
6g.51747884C>GCA450613494PKHD1c.9732G>C (p.Leu3244=)
c.9603G>C (p.Leu3201=)
c.9594G>C (p.Leu3198=)
c.9090G>C (p.Leu3030=)
c.9021G>C (p.Leu3007=)
c.3807G>C (p.Leu1269=)
c.9657G>C (p.Leu3219=)
c.9537G>C (p.Leu3179=)
c.9468G>C (p.Leu3156=)
c.7872G>C (p.Leu2624=)
n.10008G>C
6g.51747884C>TCA450613495PKHD1c.9732G>A (p.Leu3244=)
c.9603G>A (p.Leu3201=)
c.9594G>A (p.Leu3198=)
c.9090G>A (p.Leu3030=)
c.9021G>A (p.Leu3007=)
c.3807G>A (p.Leu1269=)
c.9657G>A (p.Leu3219=)
c.9537G>A (p.Leu3179=)
c.9468G>A (p.Leu3156=)
c.7872G>A (p.Leu2624=)
n.10008G>A
 dbSNP gnomAD v4
6g.51747885A=CA1628501959PKHD1c.9731T= (p.Leu3244=)
c.9602T= (p.Leu3201=)
c.9593T= (p.Leu3198=)
c.9089T= (p.Leu3030=)
c.9020T= (p.Leu3007=)
c.3806T= (p.Leu1269=)
c.9656T= (p.Leu3219=)
c.9536T= (p.Leu3179=)
c.9467T= (p.Leu3156=)
c.7871T= (p.Leu2624=)
n.10007T=
6g.51747885A>CCA364420388PKHD1c.9731T>G (p.Leu3244Arg)
c.9602T>G (p.Leu3201Arg)
c.9593T>G (p.Leu3198Arg)
c.9089T>G (p.Leu3030Arg)
c.9020T>G (p.Leu3007Arg)
c.3806T>G (p.Leu1269Arg)
c.9656T>G (p.Leu3219Arg)
c.9536T>G (p.Leu3179Arg)
c.9467T>G (p.Leu3156Arg)
c.7871T>G (p.Leu2624Arg)
n.10007T>G
 dbSNP gnomAD v3 gnomAD v4
6g.51747885A>GCA364420390PKHD1c.9731T>C (p.Leu3244Pro)
c.9602T>C (p.Leu3201Pro)
c.9593T>C (p.Leu3198Pro)
c.9089T>C (p.Leu3030Pro)
c.9020T>C (p.Leu3007Pro)
c.3806T>C (p.Leu1269Pro)
c.9656T>C (p.Leu3219Pro)
c.9536T>C (p.Leu3179Pro)
c.9467T>C (p.Leu3156Pro)
c.7871T>C (p.Leu2624Pro)
n.10007T>C
6g.51747885A>TCA364420392PKHD1c.9731T>A (p.Leu3244Gln)
c.9602T>A (p.Leu3201Gln)
c.9593T>A (p.Leu3198Gln)
c.9089T>A (p.Leu3030Gln)
c.9020T>A (p.Leu3007Gln)
c.3806T>A (p.Leu1269Gln)
c.9656T>A (p.Leu3219Gln)
c.9536T>A (p.Leu3179Gln)
c.9467T>A (p.Leu3156Gln)
c.7871T>A (p.Leu2624Gln)
n.10007T>A
6g.51747886G>ACA450613497PKHD1c.9730C>T (p.Leu3244=)
c.9601C>T (p.Leu3201=)
c.9592C>T (p.Leu3198=)
c.9088C>T (p.Leu3030=)
c.9019C>T (p.Leu3007=)
c.3805C>T (p.Leu1269=)
c.9655C>T (p.Leu3219=)
c.9535C>T (p.Leu3179=)
c.9466C>T (p.Leu3156=)
c.7870C>T (p.Leu2624=)
n.10006C>T
6g.51747886G>CCA364420394PKHD1c.9730C>G (p.Leu3244Val)
c.9601C>G (p.Leu3201Val)
c.9592C>G (p.Leu3198Val)
c.9088C>G (p.Leu3030Val)
c.9019C>G (p.Leu3007Val)
c.3805C>G (p.Leu1269Val)
c.9655C>G (p.Leu3219Val)
c.9535C>G (p.Leu3179Val)
c.9466C>G (p.Leu3156Val)
c.7870C>G (p.Leu2624Val)
n.10006C>G
6g.51747886G>TCA364420395PKHD1c.9730C>A (p.Leu3244Met)
c.9601C>A (p.Leu3201Met)
c.9592C>A (p.Leu3198Met)
c.9088C>A (p.Leu3030Met)
c.9019C>A (p.Leu3007Met)
c.3805C>A (p.Leu1269Met)
c.9655C>A (p.Leu3219Met)
c.9535C>A (p.Leu3179Met)
c.9466C>A (p.Leu3156Met)
c.7870C>A (p.Leu2624Met)
n.10006C>A
6g.51747887A>CCA364420398PKHD1c.9729T>G (p.Ile3243Met)
c.9600T>G (p.Ile3200Met)
c.9591T>G (p.Ile3197Met)
c.9087T>G (p.Ile3029Met)
c.9018T>G (p.Ile3006Met)
c.3804T>G (p.Ile1268Met)
c.9654T>G (p.Ile3218Met)
c.9534T>G (p.Ile3178Met)
c.9465T>G (p.Ile3155Met)
c.7869T>G (p.Ile2623Met)
n.10005T>G
6g.51747887A>GCA450613501PKHD1c.9729T>C (p.Ile3243=)
c.9600T>C (p.Ile3200=)
c.9591T>C (p.Ile3197=)
c.9087T>C (p.Ile3029=)
c.9018T>C (p.Ile3006=)
c.3804T>C (p.Ile1268=)
c.9654T>C (p.Ile3218=)
c.9534T>C (p.Ile3178=)
c.9465T>C (p.Ile3155=)
c.7869T>C (p.Ile2623=)
n.10005T>C
6g.51747887A>TCA450613502PKHD1c.9729T>A (p.Ile3243=)
c.9600T>A (p.Ile3200=)
c.9591T>A (p.Ile3197=)
c.9087T>A (p.Ile3029=)
c.9018T>A (p.Ile3006=)
c.3804T>A (p.Ile1268=)
c.9654T>A (p.Ile3218=)
c.9534T>A (p.Ile3178=)
c.9465T>A (p.Ile3155=)
c.7869T>A (p.Ile2623=)
n.10005T>A
 gnomAD v4
6g.51747888A>CCA364420403PKHD1c.9728T>G (p.Ile3243Ser)
c.9599T>G (p.Ile3200Ser)
c.9590T>G (p.Ile3197Ser)
c.9086T>G (p.Ile3029Ser)
c.9017T>G (p.Ile3006Ser)
c.3803T>G (p.Ile1268Ser)
c.9653T>G (p.Ile3218Ser)
c.9533T>G (p.Ile3178Ser)
c.9464T>G (p.Ile3155Ser)
c.7868T>G (p.Ile2623Ser)
n.10004T>G
 gnomAD v4
6g.51747888A>GCA364420402PKHD1c.9728T>C (p.Ile3243Thr)
c.9599T>C (p.Ile3200Thr)
c.9590T>C (p.Ile3197Thr)
c.9086T>C (p.Ile3029Thr)
c.9017T>C (p.Ile3006Thr)
c.3803T>C (p.Ile1268Thr)
c.9653T>C (p.Ile3218Thr)
c.9533T>C (p.Ile3178Thr)
c.9464T>C (p.Ile3155Thr)
c.7868T>C (p.Ile2623Thr)
n.10004T>C
6g.51747888A>TCA364420401PKHD1c.9728T>A (p.Ile3243Asn)
c.9599T>A (p.Ile3200Asn)
c.9590T>A (p.Ile3197Asn)
c.9086T>A (p.Ile3029Asn)
c.9017T>A (p.Ile3006Asn)
c.3803T>A (p.Ile1268Asn)
c.9653T>A (p.Ile3218Asn)
c.9533T>A (p.Ile3178Asn)
c.9464T>A (p.Ile3155Asn)
c.7868T>A (p.Ile2623Asn)
n.10004T>A
6g.51747888_51747889delinsATCA1628501963PKHD1c.9727_9728delinsAT (p.Ile3243=)
c.9598_9599delinsAT (p.Ile3200=)
c.9589_9590delinsAT (p.Ile3197=)
c.9085_9086delinsAT (p.Ile3029=)
c.9016_9017delinsAT (p.Ile3006=)
c.3802_3803delinsAT (p.Ile1268=)
c.9652_9653delinsAT (p.Ile3218=)
c.9532_9533delinsAT (p.Ile3178=)
c.9463_9464delinsAT (p.Ile3155=)
c.7867_7868delinsAT (p.Ile2623=)
n.10003_10004delinsAT
6g.51747889delCA891862704PKHD1c.9727del (p.Ile3243PhefsTer21)
c.9598del (p.Ile3200PhefsTer21)
c.9589del (p.Ile3197PhefsTer21)
c.9085del (p.Ile3029PhefsTer21)
c.9016del (p.Ile3006PhefsTer21)
c.3802del (p.Ile1268PhefsTer21)
c.9652del (p.Ile3218PhefsTer21)
c.9532del (p.Ile3178PhefsTer21)
c.9463del (p.Ile3155PhefsTer21)
c.7867del (p.Ile2623PhefsTer21)
n.10003del
 ClinVar dbSNP
6g.51747889T>ACA364420404PKHD1c.9727A>T (p.Ile3243Phe)
c.9598A>T (p.Ile3200Phe)
c.9589A>T (p.Ile3197Phe)
c.9085A>T (p.Ile3029Phe)
c.9016A>T (p.Ile3006Phe)
c.3802A>T (p.Ile1268Phe)
c.9652A>T (p.Ile3218Phe)
c.9532A>T (p.Ile3178Phe)
c.9463A>T (p.Ile3155Phe)
c.7867A>T (p.Ile2623Phe)
n.10003A>T
6g.51747889T>CCA364420405PKHD1c.9727A>G (p.Ile3243Val)
c.9598A>G (p.Ile3200Val)
c.9589A>G (p.Ile3197Val)
c.9085A>G (p.Ile3029Val)
c.9016A>G (p.Ile3006Val)
c.3802A>G (p.Ile1268Val)
c.9652A>G (p.Ile3218Val)
c.9532A>G (p.Ile3178Val)
c.9463A>G (p.Ile3155Val)
c.7867A>G (p.Ile2623Val)
n.10003A>G
 dbSNP gnomAD v4
6g.51747889T>GCA364420406PKHD1c.9727A>C (p.Ile3243Leu)
c.9598A>C (p.Ile3200Leu)
c.9589A>C (p.Ile3197Leu)
c.9085A>C (p.Ile3029Leu)
c.9016A>C (p.Ile3006Leu)
c.3802A>C (p.Ile1268Leu)
c.9652A>C (p.Ile3218Leu)
c.9532A>C (p.Ile3178Leu)
c.9463A>C (p.Ile3155Leu)
c.7867A>C (p.Ile2623Leu)
n.10003A>C
6g.51747889T=CA1628501969PKHD1c.9727A= (p.Ile3243=)
c.9598A= (p.Ile3200=)
c.9589A= (p.Ile3197=)
c.9085A= (p.Ile3029=)
c.9016A= (p.Ile3006=)
c.3802A= (p.Ile1268=)
c.9652A= (p.Ile3218=)
c.9532A= (p.Ile3178=)
c.9463A= (p.Ile3155=)
c.7867A= (p.Ile2623=)
n.10003A=
6g.51747890A>CCA450613507PKHD1c.9726T>G (p.Gly3242=)
c.9597T>G (p.Gly3199=)
c.9588T>G (p.Gly3196=)
c.9084T>G (p.Gly3028=)
c.9015T>G (p.Gly3005=)
c.3801T>G (p.Gly1267=)
c.9651T>G (p.Gly3217=)
c.9531T>G (p.Gly3177=)
c.9462T>G (p.Gly3154=)
c.7866T>G (p.Gly2622=)
n.10002T>G
6g.51747890A>GCA450613508PKHD1c.9726T>C (p.Gly3242=)
c.9597T>C (p.Gly3199=)
c.9588T>C (p.Gly3196=)
c.9084T>C (p.Gly3028=)
c.9015T>C (p.Gly3005=)
c.3801T>C (p.Gly1267=)
c.9651T>C (p.Gly3217=)
c.9531T>C (p.Gly3177=)
c.9462T>C (p.Gly3154=)
c.7866T>C (p.Gly2622=)
n.10002T>C
 gnomAD v4
6g.51747890A>TCA450613509PKHD1c.9726T>A (p.Gly3242=)
c.9597T>A (p.Gly3199=)
c.9588T>A (p.Gly3196=)
c.9084T>A (p.Gly3028=)
c.9015T>A (p.Gly3005=)
c.3801T>A (p.Gly1267=)
c.9651T>A (p.Gly3217=)
c.9531T>A (p.Gly3177=)
c.9462T>A (p.Gly3154=)
c.7866T>A (p.Gly2622=)
n.10002T>A
 gnomAD v4
6g.51747891C>ACA364420408PKHD1c.9725G>T (p.Gly3242Val)
c.9596G>T (p.Gly3199Val)
c.9587G>T (p.Gly3196Val)
c.9083G>T (p.Gly3028Val)
c.9014G>T (p.Gly3005Val)
c.3800G>T (p.Gly1267Val)
c.9650G>T (p.Gly3217Val)
c.9530G>T (p.Gly3177Val)
c.9461G>T (p.Gly3154Val)
c.7865G>T (p.Gly2622Val)
n.10001G>T
 gnomAD v4
6g.51747891C=CA1628501977PKHD1c.9725G= (p.Gly3242=)
c.9596G= (p.Gly3199=)
c.9587G= (p.Gly3196=)
c.9083G= (p.Gly3028=)
c.9014G= (p.Gly3005=)
c.3800G= (p.Gly1267=)
c.9650G= (p.Gly3217=)
c.9530G= (p.Gly3177=)
c.9461G= (p.Gly3154=)
c.7865G= (p.Gly2622=)
n.10001G=
6g.51747891C>GCA364420412PKHD1c.9725G>C (p.Gly3242Ala)
c.9596G>C (p.Gly3199Ala)
c.9587G>C (p.Gly3196Ala)
c.9083G>C (p.Gly3028Ala)
c.9014G>C (p.Gly3005Ala)
c.3800G>C (p.Gly1267Ala)
c.9650G>C (p.Gly3217Ala)
c.9530G>C (p.Gly3177Ala)
c.9461G>C (p.Gly3154Ala)
c.7865G>C (p.Gly2622Ala)
n.10001G>C
 ClinVar dbSNP
6g.51747891C>TCA10606621PKHD1c.9725G>A (p.Gly3242Asp)
c.9596G>A (p.Gly3199Asp)
c.9587G>A (p.Gly3196Asp)
c.9083G>A (p.Gly3028Asp)
c.9014G>A (p.Gly3005Asp)
c.3800G>A (p.Gly1267Asp)
c.9650G>A (p.Gly3217Asp)
c.9530G>A (p.Gly3177Asp)
c.9461G>A (p.Gly3154Asp)
c.7865G>A (p.Gly2622Asp)
n.10001G>A
 ClinVar dbSNP
6g.51747892C>ACA364420414PKHD1c.9724G>T (p.Gly3242Cys)
c.9595G>T (p.Gly3199Cys)
c.9586G>T (p.Gly3196Cys)
c.9082G>T (p.Gly3028Cys)
c.9013G>T (p.Gly3005Cys)
c.3799G>T (p.Gly1267Cys)
c.9649G>T (p.Gly3217Cys)
c.9529G>T (p.Gly3177Cys)
c.9460G>T (p.Gly3154Cys)
c.7864G>T (p.Gly2622Cys)
n.10000G>T
6g.51747892C=CA1628501991PKHD1c.9724G= (p.Gly3242=)
c.9595G= (p.Gly3199=)
c.9586G= (p.Gly3196=)
c.9082G= (p.Gly3028=)
c.9013G= (p.Gly3005=)
c.3799G= (p.Gly1267=)
c.9649G= (p.Gly3217=)
c.9529G= (p.Gly3177=)
c.9460G= (p.Gly3154=)
c.7864G= (p.Gly2622=)
n.10000G=
6g.51747892C>GCA364420416PKHD1c.9724G>C (p.Gly3242Arg)
c.9595G>C (p.Gly3199Arg)
c.9586G>C (p.Gly3196Arg)
c.9082G>C (p.Gly3028Arg)
c.9013G>C (p.Gly3005Arg)
c.3799G>C (p.Gly1267Arg)
c.9649G>C (p.Gly3217Arg)
c.9529G>C (p.Gly3177Arg)
c.9460G>C (p.Gly3154Arg)
c.7864G>C (p.Gly2622Arg)
n.10000G>C
 dbSNP
6g.51747892C>TCA364420417PKHD1c.9724G>A (p.Gly3242Ser)
c.9595G>A (p.Gly3199Ser)
c.9586G>A (p.Gly3196Ser)
c.9082G>A (p.Gly3028Ser)
c.9013G>A (p.Gly3005Ser)
c.3799G>A (p.Gly1267Ser)
c.9649G>A (p.Gly3217Ser)
c.9529G>A (p.Gly3177Ser)
c.9460G>A (p.Gly3154Ser)
c.7864G>A (p.Gly2622Ser)
n.10000G>A
6g.51747893A>CCA364420418PKHD1c.9723T>G (p.Ile3241Met)
c.9594T>G (p.Ile3198Met)
c.9585T>G (p.Ile3195Met)
c.9081T>G (p.Ile3027Met)
c.9012T>G (p.Ile3004Met)
c.3798T>G (p.Ile1266Met)
c.9648T>G (p.Ile3216Met)
c.9528T>G (p.Ile3176Met)
c.9459T>G (p.Ile3153Met)
c.7863T>G (p.Ile2621Met)
n.9999T>G
6g.51747893A>GCA450613517PKHD1c.9723T>C (p.Ile3241=)
c.9594T>C (p.Ile3198=)
c.9585T>C (p.Ile3195=)
c.9081T>C (p.Ile3027=)
c.9012T>C (p.Ile3004=)
c.3798T>C (p.Ile1266=)
c.9648T>C (p.Ile3216=)
c.9528T>C (p.Ile3176=)
c.9459T>C (p.Ile3153=)
c.7863T>C (p.Ile2621=)
n.9999T>C
6g.51747893A>TCA450613516PKHD1c.9723T>A (p.Ile3241=)
c.9594T>A (p.Ile3198=)
c.9585T>A (p.Ile3195=)
c.9081T>A (p.Ile3027=)
c.9012T>A (p.Ile3004=)
c.3798T>A (p.Ile1266=)
c.9648T>A (p.Ile3216=)
c.9528T>A (p.Ile3176=)
c.9459T>A (p.Ile3153=)
c.7863T>A (p.Ile2621=)
n.9999T>A
6g.51747894dupCA915944267PKHD1c.9723dup (p.Gly3242TrpfsTer25)
c.9594dup (p.Gly3199TrpfsTer25)
c.9585dup (p.Gly3196TrpfsTer25)
c.9081dup (p.Gly3028TrpfsTer25)
c.9012dup (p.Gly3005TrpfsTer25)
c.3798dup (p.Gly1267TrpfsTer25)
c.9648dup (p.Gly3217TrpfsTer25)
c.9528dup (p.Gly3177TrpfsTer25)
c.9459dup (p.Gly3154TrpfsTer25)
c.7863dup (p.Gly2622TrpfsTer25)
n.9999dup
 ClinVar dbSNP gnomAD v4
6g.51747894A>CCA364420420PKHD1c.9722T>G (p.Ile3241Ser)
c.9593T>G (p.Ile3198Ser)
c.9584T>G (p.Ile3195Ser)
c.9080T>G (p.Ile3027Ser)
c.9011T>G (p.Ile3004Ser)
c.3797T>G (p.Ile1266Ser)
c.9647T>G (p.Ile3216Ser)
c.9527T>G (p.Ile3176Ser)
c.9458T>G (p.Ile3153Ser)
c.7862T>G (p.Ile2621Ser)
n.9998T>G
6g.51747894A>GCA364420421PKHD1c.9722T>C (p.Ile3241Thr)
c.9593T>C (p.Ile3198Thr)
c.9584T>C (p.Ile3195Thr)
c.9080T>C (p.Ile3027Thr)
c.9011T>C (p.Ile3004Thr)
c.3797T>C (p.Ile1266Thr)
c.9647T>C (p.Ile3216Thr)
c.9527T>C (p.Ile3176Thr)
c.9458T>C (p.Ile3153Thr)
c.7862T>C (p.Ile2621Thr)
n.9998T>C
6g.51747894A>TCA364420423PKHD1c.9722T>A (p.Ile3241Asn)
c.9593T>A (p.Ile3198Asn)
c.9584T>A (p.Ile3195Asn)
c.9080T>A (p.Ile3027Asn)
c.9011T>A (p.Ile3004Asn)
c.3797T>A (p.Ile1266Asn)
c.9647T>A (p.Ile3216Asn)
c.9527T>A (p.Ile3176Asn)
c.9458T>A (p.Ile3153Asn)
c.7862T>A (p.Ile2621Asn)
n.9998T>A
6g.51747895T>ACA364420426PKHD1c.9721A>T (p.Ile3241Phe)
c.9592A>T (p.Ile3198Phe)
c.9583A>T (p.Ile3195Phe)
c.9079A>T (p.Ile3027Phe)
c.9010A>T (p.Ile3004Phe)
c.3796A>T (p.Ile1266Phe)
c.9646A>T (p.Ile3216Phe)
c.9526A>T (p.Ile3176Phe)
c.9457A>T (p.Ile3153Phe)
c.7861A>T (p.Ile2621Phe)
n.9997A>T
 gnomAD v4
6g.51747895T>CCA364420428PKHD1c.9721A>G (p.Ile3241Val)
c.9592A>G (p.Ile3198Val)
c.9583A>G (p.Ile3195Val)
c.9079A>G (p.Ile3027Val)
c.9010A>G (p.Ile3004Val)
c.3796A>G (p.Ile1266Val)
c.9646A>G (p.Ile3216Val)
c.9526A>G (p.Ile3176Val)
c.9457A>G (p.Ile3153Val)
c.7861A>G (p.Ile2621Val)
n.9997A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51747895T>GCA364420425PKHD1c.9721A>C (p.Ile3241Leu)
c.9592A>C (p.Ile3198Leu)
c.9583A>C (p.Ile3195Leu)
c.9079A>C (p.Ile3027Leu)
c.9010A>C (p.Ile3004Leu)
c.3796A>C (p.Ile1266Leu)
c.9646A>C (p.Ile3216Leu)
c.9526A>C (p.Ile3176Leu)
c.9457A>C (p.Ile3153Leu)
c.7861A>C (p.Ile2621Leu)
n.9997A>C
6g.51747895T=CA1628502000PKHD1c.9721A= (p.Ile3241=)
c.9592A= (p.Ile3198=)
c.9583A= (p.Ile3195=)
c.9079A= (p.Ile3027=)
c.9010A= (p.Ile3004=)
c.3796A= (p.Ile1266=)
c.9646A= (p.Ile3216=)
c.9526A= (p.Ile3176=)
c.9457A= (p.Ile3153=)
c.7861A= (p.Ile2621=)
n.9997A=
6g.51747896T>ACA450613523PKHD1c.9720A>T (p.Arg3240=)
c.9591A>T (p.Arg3197=)
c.9582A>T (p.Arg3194=)
c.9078A>T (p.Arg3026=)
c.9009A>T (p.Arg3003=)
c.3795A>T (p.Arg1265=)
c.9645A>T (p.Arg3215=)
c.9525A>T (p.Arg3175=)
c.9456A>T (p.Arg3152=)
c.7860A>T (p.Arg2620=)
n.9996A>T
 dbSNP gnomAD v2 gnomAD v4
6g.51747896T>CCA450613524PKHD1c.9720A>G (p.Arg3240=)
c.9591A>G (p.Arg3197=)
c.9582A>G (p.Arg3194=)
c.9078A>G (p.Arg3026=)
c.9009A>G (p.Arg3003=)
c.3795A>G (p.Arg1265=)
c.9645A>G (p.Arg3215=)
c.9525A>G (p.Arg3175=)
c.9456A>G (p.Arg3152=)
c.7860A>G (p.Arg2620=)
n.9996A>G
6g.51747896T>GCA450613526PKHD1c.9720A>C (p.Arg3240=)
c.9591A>C (p.Arg3197=)
c.9582A>C (p.Arg3194=)
c.9078A>C (p.Arg3026=)
c.9009A>C (p.Arg3003=)
c.3795A>C (p.Arg1265=)
c.9645A>C (p.Arg3215=)
c.9525A>C (p.Arg3175=)
c.9456A>C (p.Arg3152=)
c.7860A>C (p.Arg2620=)
n.9996A>C
6g.51747896T=CA1628502004PKHD1c.9720A= (p.Arg3240=)
c.9591A= (p.Arg3197=)
c.9582A= (p.Arg3194=)
c.9078A= (p.Arg3026=)
c.9009A= (p.Arg3003=)
c.3795A= (p.Arg1265=)
c.9645A= (p.Arg3215=)
c.9525A= (p.Arg3175=)
c.9456A= (p.Arg3152=)
c.7860A= (p.Arg2620=)
n.9996A=
6g.51747897C>ACA234565PKHD1c.9719G>T (p.Arg3240Leu)
c.9590G>T (p.Arg3197Leu)
c.9581G>T (p.Arg3194Leu)
c.9077G>T (p.Arg3026Leu)
c.9008G>T (p.Arg3003Leu)
c.3794G>T (p.Arg1265Leu)
c.9644G>T (p.Arg3215Leu)
c.9524G>T (p.Arg3175Leu)
c.9455G>T (p.Arg3152Leu)
c.7859G>T (p.Arg2620Leu)
n.9995G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51747897C=CA1628502016PKHD1c.9719G= (p.Arg3240=)
c.9590G= (p.Arg3197=)
c.9581G= (p.Arg3194=)
c.9077G= (p.Arg3026=)
c.9008G= (p.Arg3003=)
c.3794G= (p.Arg1265=)
c.9644G= (p.Arg3215=)
c.9524G= (p.Arg3175=)
c.9455G= (p.Arg3152=)
c.7859G= (p.Arg2620=)
n.9995G=
6g.51747897C>GCA364420432PKHD1c.9719G>C (p.Arg3240Pro)
c.9590G>C (p.Arg3197Pro)
c.9581G>C (p.Arg3194Pro)
c.9077G>C (p.Arg3026Pro)
c.9008G>C (p.Arg3003Pro)
c.3794G>C (p.Arg1265Pro)
c.9644G>C (p.Arg3215Pro)
c.9524G>C (p.Arg3175Pro)
c.9455G>C (p.Arg3152Pro)
c.7859G>C (p.Arg2620Pro)
n.9995G>C
6g.51747897C>TCA138895870PKHD1c.9719G>A (p.Arg3240Gln)
c.9590G>A (p.Arg3197Gln)
c.9581G>A (p.Arg3194Gln)
c.9077G>A (p.Arg3026Gln)
c.9008G>A (p.Arg3003Gln)
c.3794G>A (p.Arg1265Gln)
c.9644G>A (p.Arg3215Gln)
c.9524G>A (p.Arg3175Gln)
c.9455G>A (p.Arg3152Gln)
c.7859G>A (p.Arg2620Gln)
n.9995G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC

Number of alleles fetched