Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51626470_51627085delinsCCTAACA2739273088PKHD1c.11697_11785+527delinsTTAGG
c.11568_11656+527delinsTTAGG
c.11559_11647+527delinsTTAGG
c.11055_11143+527delinsTTAGG
c.10986_11074+527delinsTTAGG
c.5772_5860+527delinsTTAGG
c.11622_11710+527delinsTTAGG
c.11502_11590+527delinsTTAGG
c.11433_11521+527delinsTTAGG
c.9837_9925+527delinsTTAGG
 ClinVar
6g.51627007_51627009delCA913110668PKHD1c.11777_11779del (p.Val3926del)
c.11648_11650del (p.Val3883del)
c.11639_11641del (p.Val3880del)
c.11135_11137del (p.Val3712del)
c.11066_11068del (p.Val3689del)
c.5852_5854del (p.Val1951del)
c.11702_11704del (p.Val3901del)
c.11582_11584del (p.Val3861del)
c.11513_11515del (p.Val3838del)
c.9917_9919del (p.Val3306del)
6g.51627007delCA16041021PKHD1c.11776del (p.Val3926TrpfsTer5)
c.11647del (p.Val3883TrpfsTer5)
c.11638del (p.Val3880TrpfsTer5)
c.11134del (p.Val3712TrpfsTer5)
c.11065del (p.Val3689TrpfsTer5)
c.5851del (p.Val1951TrpfsTer5)
c.11701del (p.Val3901TrpfsTer5)
c.11581del (p.Val3861TrpfsTer5)
c.11512del (p.Val3838TrpfsTer5)
c.9916del (p.Val3306TrpfsTer5)
 ClinVar dbSNP gnomAD v4
6g.51627006_51627008delinsCCACA1628469291PKHD1c.11774_11776delinsTGG (p.Val3925=)
c.11645_11647delinsTGG (p.Val3882=)
c.11636_11638delinsTGG (p.Val3879=)
c.11132_11134delinsTGG (p.Val3711=)
c.11063_11065delinsTGG (p.Val3688=)
c.5849_5851delinsTGG (p.Val1950=)
c.11699_11701delinsTGG (p.Val3900=)
c.11579_11581delinsTGG (p.Val3860=)
c.11510_11512delinsTGG (p.Val3837=)
c.9914_9916delinsTGG (p.Val3305=)
6g.51627007C>ACA450411487PKHD1c.11775G>T (p.Val3925=)
c.11646G>T (p.Val3882=)
c.11637G>T (p.Val3879=)
c.11133G>T (p.Val3711=)
c.11064G>T (p.Val3688=)
c.5850G>T (p.Val1950=)
c.11700G>T (p.Val3900=)
c.11580G>T (p.Val3860=)
c.11511G>T (p.Val3837=)
c.9915G>T (p.Val3305=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51627007C=CA1628469305PKHD1c.11775G= (p.Val3925=)
c.11646G= (p.Val3882=)
c.11637G= (p.Val3879=)
c.11133G= (p.Val3711=)
c.11064G= (p.Val3688=)
c.5850G= (p.Val1950=)
c.11700G= (p.Val3900=)
c.11580G= (p.Val3860=)
c.11511G= (p.Val3837=)
c.9915G= (p.Val3305=)
6g.51627007C>GCA450411488PKHD1c.11775G>C (p.Val3925=)
c.11646G>C (p.Val3882=)
c.11637G>C (p.Val3879=)
c.11133G>C (p.Val3711=)
c.11064G>C (p.Val3688=)
c.5850G>C (p.Val1950=)
c.11700G>C (p.Val3900=)
c.11580G>C (p.Val3860=)
c.11511G>C (p.Val3837=)
c.9915G>C (p.Val3305=)
6g.51627007C>TCA450411489PKHD1c.11775G>A (p.Val3925=)
c.11646G>A (p.Val3882=)
c.11637G>A (p.Val3879=)
c.11133G>A (p.Val3711=)
c.11064G>A (p.Val3688=)
c.5850G>A (p.Val1950=)
c.11700G>A (p.Val3900=)
c.11580G>A (p.Val3860=)
c.11511G>A (p.Val3837=)
c.9915G>A (p.Val3305=)
6g.51627009_51627010delCA658821690PKHD1c.11774_11775del (p.Val3925GlyfsTer?)
c.11645_11646del (p.Val3882GlyfsTer?)
c.11636_11637del (p.Val3879GlyfsTer?)
c.11132_11133del (p.Val3711GlyfsTer?)
c.11063_11064del (p.Val3688GlyfsTer?)
c.5849_5850del (p.Val1950GlyfsTer?)
c.11699_11700del (p.Val3900GlyfsTer?)
c.11579_11580del (p.Val3860GlyfsTer?)
c.11510_11511del (p.Val3837GlyfsTer?)
c.9914_9915del (p.Val3305GlyfsTer?)
 ClinVar dbSNP gnomAD v4
6g.51627008A>CCA364418349PKHD1c.11774T>G (p.Val3925Gly)
c.11645T>G (p.Val3882Gly)
c.11636T>G (p.Val3879Gly)
c.11132T>G (p.Val3711Gly)
c.11063T>G (p.Val3688Gly)
c.5849T>G (p.Val1950Gly)
c.11699T>G (p.Val3900Gly)
c.11579T>G (p.Val3860Gly)
c.11510T>G (p.Val3837Gly)
c.9914T>G (p.Val3305Gly)
6g.51627008A>GCA364418352PKHD1c.11774T>C (p.Val3925Ala)
c.11645T>C (p.Val3882Ala)
c.11636T>C (p.Val3879Ala)
c.11132T>C (p.Val3711Ala)
c.11063T>C (p.Val3688Ala)
c.5849T>C (p.Val1950Ala)
c.11699T>C (p.Val3900Ala)
c.11579T>C (p.Val3860Ala)
c.11510T>C (p.Val3837Ala)
c.9914T>C (p.Val3305Ala)
6g.51627008A>TCA364418353PKHD1c.11774T>A (p.Val3925Glu)
c.11645T>A (p.Val3882Glu)
c.11636T>A (p.Val3879Glu)
c.11132T>A (p.Val3711Glu)
c.11063T>A (p.Val3688Glu)
c.5849T>A (p.Val1950Glu)
c.11699T>A (p.Val3900Glu)
c.11579T>A (p.Val3860Glu)
c.11510T>A (p.Val3837Glu)
c.9914T>A (p.Val3305Glu)
6g.51627009C>ACA364418356PKHD1c.11773G>T (p.Val3925Leu)
c.11644G>T (p.Val3882Leu)
c.11635G>T (p.Val3879Leu)
c.11131G>T (p.Val3711Leu)
c.11062G>T (p.Val3688Leu)
c.5848G>T (p.Val1950Leu)
c.11698G>T (p.Val3900Leu)
c.11578G>T (p.Val3860Leu)
c.11509G>T (p.Val3837Leu)
c.9913G>T (p.Val3305Leu)
6g.51627009C=CA1628469315PKHD1c.11773G= (p.Val3925=)
c.11644G= (p.Val3882=)
c.11635G= (p.Val3879=)
c.11131G= (p.Val3711=)
c.11062G= (p.Val3688=)
c.5848G= (p.Val1950=)
c.11698G= (p.Val3900=)
c.11578G= (p.Val3860=)
c.11509G= (p.Val3837=)
c.9913G= (p.Val3305=)
6g.51627009C>GCA364418358PKHD1c.11773G>C (p.Val3925Leu)
c.11644G>C (p.Val3882Leu)
c.11635G>C (p.Val3879Leu)
c.11131G>C (p.Val3711Leu)
c.11062G>C (p.Val3688Leu)
c.5848G>C (p.Val1950Leu)
c.11698G>C (p.Val3900Leu)
c.11578G>C (p.Val3860Leu)
c.11509G>C (p.Val3837Leu)
c.9913G>C (p.Val3305Leu)
 dbSNP gnomAD v3 gnomAD v4
6g.51627009C>TCA364418364PKHD1c.11773G>A (p.Val3925Met)
c.11644G>A (p.Val3882Met)
c.11635G>A (p.Val3879Met)
c.11131G>A (p.Val3711Met)
c.11062G>A (p.Val3688Met)
c.5848G>A (p.Val1950Met)
c.11698G>A (p.Val3900Met)
c.11578G>A (p.Val3860Met)
c.11509G>A (p.Val3837Met)
c.9913G>A (p.Val3305Met)
6g.51627010A>CCA450411493PKHD1c.11772T>G (p.Thr3924=)
c.11643T>G (p.Thr3881=)
c.11634T>G (p.Thr3878=)
c.11130T>G (p.Thr3710=)
c.11061T>G (p.Thr3687=)
c.5847T>G (p.Thr1949=)
c.11697T>G (p.Thr3899=)
c.11577T>G (p.Thr3859=)
c.11508T>G (p.Thr3836=)
c.9912T>G (p.Thr3304=)
6g.51627010A>GCA450411495PKHD1c.11772T>C (p.Thr3924=)
c.11643T>C (p.Thr3881=)
c.11634T>C (p.Thr3878=)
c.11130T>C (p.Thr3710=)
c.11061T>C (p.Thr3687=)
c.5847T>C (p.Thr1949=)
c.11697T>C (p.Thr3899=)
c.11577T>C (p.Thr3859=)
c.11508T>C (p.Thr3836=)
c.9912T>C (p.Thr3304=)
 COSMIC
6g.51627010A>TCA450411494PKHD1c.11772T>A (p.Thr3924=)
c.11643T>A (p.Thr3881=)
c.11634T>A (p.Thr3878=)
c.11130T>A (p.Thr3710=)
c.11061T>A (p.Thr3687=)
c.5847T>A (p.Thr1949=)
c.11697T>A (p.Thr3899=)
c.11577T>A (p.Thr3859=)
c.11508T>A (p.Thr3836=)
c.9912T>A (p.Thr3304=)
6g.51627010_51627013delinsAGTGCA1628469594PKHD1c.11769_11772delinsCACT (p.Asp3923=)
c.11640_11643delinsCACT (p.Asp3880=)
c.11631_11634delinsCACT (p.Asp3877=)
c.11127_11130delinsCACT (p.Asp3709=)
c.11058_11061delinsCACT (p.Asp3686=)
c.5844_5847delinsCACT (p.Asp1948=)
c.11694_11697delinsCACT (p.Asp3898=)
c.11574_11577delinsCACT (p.Asp3858=)
c.11505_11508delinsCACT (p.Asp3835=)
c.9909_9912delinsCACT (p.Asp3303=)
6g.51627011G>ACA364418366PKHD1c.11771C>T (p.Thr3924Ile)
c.11642C>T (p.Thr3881Ile)
c.11633C>T (p.Thr3878Ile)
c.11129C>T (p.Thr3710Ile)
c.11060C>T (p.Thr3687Ile)
c.5846C>T (p.Thr1949Ile)
c.11696C>T (p.Thr3899Ile)
c.11576C>T (p.Thr3859Ile)
c.11507C>T (p.Thr3836Ile)
c.9911C>T (p.Thr3304Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51627011G>CCA364418369PKHD1c.11771C>G (p.Thr3924Ser)
c.11642C>G (p.Thr3881Ser)
c.11633C>G (p.Thr3878Ser)
c.11129C>G (p.Thr3710Ser)
c.11060C>G (p.Thr3687Ser)
c.5846C>G (p.Thr1949Ser)
c.11696C>G (p.Thr3899Ser)
c.11576C>G (p.Thr3859Ser)
c.11507C>G (p.Thr3836Ser)
c.9911C>G (p.Thr3304Ser)
6g.51627011G=CA1628469599PKHD1c.11771C= (p.Thr3924=)
c.11642C= (p.Thr3881=)
c.11633C= (p.Thr3878=)
c.11129C= (p.Thr3710=)
c.11060C= (p.Thr3687=)
c.5846C= (p.Thr1949=)
c.11696C= (p.Thr3899=)
c.11576C= (p.Thr3859=)
c.11507C= (p.Thr3836=)
c.9911C= (p.Thr3304=)
6g.51627011G>TCA364418375PKHD1c.11771C>A (p.Thr3924Asn)
c.11642C>A (p.Thr3881Asn)
c.11633C>A (p.Thr3878Asn)
c.11129C>A (p.Thr3710Asn)
c.11060C>A (p.Thr3687Asn)
c.5846C>A (p.Thr1949Asn)
c.11696C>A (p.Thr3899Asn)
c.11576C>A (p.Thr3859Asn)
c.11507C>A (p.Thr3836Asn)
c.9911C>A (p.Thr3304Asn)
6g.51627011_51627013delCA567278197PKHD1c.11769_11771del (p.Thr3924del)
c.11640_11642del (p.Thr3881del)
c.11631_11633del (p.Thr3878del)
c.11127_11129del (p.Thr3710del)
c.11058_11060del (p.Thr3687del)
c.5844_5846del (p.Thr1949del)
c.11694_11696del (p.Thr3899del)
c.11574_11576del (p.Thr3859del)
c.11505_11507del (p.Thr3836del)
c.9909_9911del (p.Thr3304del)
 dbSNP gnomAD v2 gnomAD v4
6g.51627013_51627014dupCA2697553456PKHD1c.11770_11771dup (p.Val3925LeufsTer7)
c.11641_11642dup (p.Val3882LeufsTer7)
c.11632_11633dup (p.Val3879LeufsTer7)
c.11128_11129dup (p.Val3711LeufsTer7)
c.11059_11060dup (p.Val3688LeufsTer7)
c.5845_5846dup (p.Val1950LeufsTer7)
c.11695_11696dup (p.Val3900LeufsTer7)
c.11575_11576dup (p.Val3860LeufsTer7)
c.11506_11507dup (p.Val3837LeufsTer7)
c.9910_9911dup (p.Val3305LeufsTer7)
 ClinVar
6g.51627012delCA2695198845PKHD1c.11770del (p.Thr3924LeufsTer7)
c.11641del (p.Thr3881LeufsTer7)
c.11632del (p.Thr3878LeufsTer7)
c.11128del (p.Thr3710LeufsTer7)
c.11059del (p.Thr3687LeufsTer7)
c.5845del (p.Thr1949LeufsTer7)
c.11695del (p.Thr3899LeufsTer7)
c.11575del (p.Thr3859LeufsTer7)
c.11506del (p.Thr3836LeufsTer7)
c.9910del (p.Thr3304LeufsTer7)
 ClinVar
6g.51627012T>ACA364418378PKHD1c.11770A>T (p.Thr3924Ser)
c.11641A>T (p.Thr3881Ser)
c.11632A>T (p.Thr3878Ser)
c.11128A>T (p.Thr3710Ser)
c.11059A>T (p.Thr3687Ser)
c.5845A>T (p.Thr1949Ser)
c.11695A>T (p.Thr3899Ser)
c.11575A>T (p.Thr3859Ser)
c.11506A>T (p.Thr3836Ser)
c.9910A>T (p.Thr3304Ser)
6g.51627012T>CCA364418379PKHD1c.11770A>G (p.Thr3924Ala)
c.11641A>G (p.Thr3881Ala)
c.11632A>G (p.Thr3878Ala)
c.11128A>G (p.Thr3710Ala)
c.11059A>G (p.Thr3687Ala)
c.5845A>G (p.Thr1949Ala)
c.11695A>G (p.Thr3899Ala)
c.11575A>G (p.Thr3859Ala)
c.11506A>G (p.Thr3836Ala)
c.9910A>G (p.Thr3304Ala)
 dbSNP gnomAD v4
6g.51627012T>GCA364418381PKHD1c.11770A>C (p.Thr3924Pro)
c.11641A>C (p.Thr3881Pro)
c.11632A>C (p.Thr3878Pro)
c.11128A>C (p.Thr3710Pro)
c.11059A>C (p.Thr3687Pro)
c.5845A>C (p.Thr1949Pro)
c.11695A>C (p.Thr3899Pro)
c.11575A>C (p.Thr3859Pro)
c.11506A>C (p.Thr3836Pro)
c.9910A>C (p.Thr3304Pro)
 gnomAD v4
6g.51627013G>ACA450411497PKHD1c.11769C>T (p.Asp3923=)
c.11640C>T (p.Asp3880=)
c.11631C>T (p.Asp3877=)
c.11127C>T (p.Asp3709=)
c.11058C>T (p.Asp3686=)
c.5844C>T (p.Asp1948=)
c.11694C>T (p.Asp3898=)
c.11574C>T (p.Asp3858=)
c.11505C>T (p.Asp3835=)
c.9909C>T (p.Asp3303=)
 ClinVar dbSNP
6g.51627013G>CCA364418383PKHD1c.11769C>G (p.Asp3923Glu)
c.11640C>G (p.Asp3880Glu)
c.11631C>G (p.Asp3877Glu)
c.11127C>G (p.Asp3709Glu)
c.11058C>G (p.Asp3686Glu)
c.5844C>G (p.Asp1948Glu)
c.11694C>G (p.Asp3898Glu)
c.11574C>G (p.Asp3858Glu)
c.11505C>G (p.Asp3835Glu)
c.9909C>G (p.Asp3303Glu)
6g.51627013G>TCA364418385PKHD1c.11769C>A (p.Asp3923Glu)
c.11640C>A (p.Asp3880Glu)
c.11631C>A (p.Asp3877Glu)
c.11127C>A (p.Asp3709Glu)
c.11058C>A (p.Asp3686Glu)
c.5844C>A (p.Asp1948Glu)
c.11694C>A (p.Asp3898Glu)
c.11574C>A (p.Asp3858Glu)
c.11505C>A (p.Asp3835Glu)
c.9909C>A (p.Asp3303Glu)
6g.51627014T>ACA364418388PKHD1c.11768A>T (p.Asp3923Val)
c.11639A>T (p.Asp3880Val)
c.11630A>T (p.Asp3877Val)
c.11126A>T (p.Asp3709Val)
c.11057A>T (p.Asp3686Val)
c.5843A>T (p.Asp1948Val)
c.11693A>T (p.Asp3898Val)
c.11573A>T (p.Asp3858Val)
c.11504A>T (p.Asp3835Val)
c.9908A>T (p.Asp3303Val)
6g.51627014T>CCA364418391PKHD1c.11768A>G (p.Asp3923Gly)
c.11639A>G (p.Asp3880Gly)
c.11630A>G (p.Asp3877Gly)
c.11126A>G (p.Asp3709Gly)
c.11057A>G (p.Asp3686Gly)
c.5843A>G (p.Asp1948Gly)
c.11693A>G (p.Asp3898Gly)
c.11573A>G (p.Asp3858Gly)
c.11504A>G (p.Asp3835Gly)
c.9908A>G (p.Asp3303Gly)
 ClinVar dbSNP gnomAD v4
6g.51627014T>GCA364418393PKHD1c.11768A>C (p.Asp3923Ala)
c.11639A>C (p.Asp3880Ala)
c.11630A>C (p.Asp3877Ala)
c.11126A>C (p.Asp3709Ala)
c.11057A>C (p.Asp3686Ala)
c.5843A>C (p.Asp1948Ala)
c.11693A>C (p.Asp3898Ala)
c.11573A>C (p.Asp3858Ala)
c.11504A>C (p.Asp3835Ala)
c.9908A>C (p.Asp3303Ala)
6g.51627014T=CA1628469602PKHD1c.11768A= (p.Asp3923=)
c.11639A= (p.Asp3880=)
c.11630A= (p.Asp3877=)
c.11126A= (p.Asp3709=)
c.11057A= (p.Asp3686=)
c.5843A= (p.Asp1948=)
c.11693A= (p.Asp3898=)
c.11573A= (p.Asp3858=)
c.11504A= (p.Asp3835=)
c.9908A= (p.Asp3303=)
6g.51627015C>ACA364418396PKHD1c.11767G>T (p.Asp3923Tyr)
c.11638G>T (p.Asp3880Tyr)
c.11629G>T (p.Asp3877Tyr)
c.11125G>T (p.Asp3709Tyr)
c.11056G>T (p.Asp3686Tyr)
c.5842G>T (p.Asp1948Tyr)
c.11692G>T (p.Asp3898Tyr)
c.11572G>T (p.Asp3858Tyr)
c.11503G>T (p.Asp3835Tyr)
c.9907G>T (p.Asp3303Tyr)
6g.51627015C>GCA364418398PKHD1c.11767G>C (p.Asp3923His)
c.11638G>C (p.Asp3880His)
c.11629G>C (p.Asp3877His)
c.11125G>C (p.Asp3709His)
c.11056G>C (p.Asp3686His)
c.5842G>C (p.Asp1948His)
c.11692G>C (p.Asp3898His)
c.11572G>C (p.Asp3858His)
c.11503G>C (p.Asp3835His)
c.9907G>C (p.Asp3303His)
6g.51627015C>TCA364418401PKHD1c.11767G>A (p.Asp3923Asn)
c.11638G>A (p.Asp3880Asn)
c.11629G>A (p.Asp3877Asn)
c.11125G>A (p.Asp3709Asn)
c.11056G>A (p.Asp3686Asn)
c.5842G>A (p.Asp1948Asn)
c.11692G>A (p.Asp3898Asn)
c.11572G>A (p.Asp3858Asn)
c.11503G>A (p.Asp3835Asn)
c.9907G>A (p.Asp3303Asn)
6g.51627015_51627016delinsCTCA1628469609PKHD1c.11766_11767delinsAG (p.Glu3922=)
c.11637_11638delinsAG (p.Glu3879=)
c.11628_11629delinsAG (p.Glu3876=)
c.11124_11125delinsAG (p.Glu3708=)
c.11055_11056delinsAG (p.Glu3685=)
c.5841_5842delinsAG (p.Glu1947=)
c.11691_11692delinsAG (p.Glu3897=)
c.11571_11572delinsAG (p.Glu3857=)
c.11502_11503delinsAG (p.Glu3834=)
c.9906_9907delinsAG (p.Glu3302=)
6g.51627016T>ACA364418404PKHD1c.11766A>T (p.Glu3922Asp)
c.11637A>T (p.Glu3879Asp)
c.11628A>T (p.Glu3876Asp)
c.11124A>T (p.Glu3708Asp)
c.11055A>T (p.Glu3685Asp)
c.5841A>T (p.Glu1947Asp)
c.11691A>T (p.Glu3897Asp)
c.11571A>T (p.Glu3857Asp)
c.11502A>T (p.Glu3834Asp)
c.9906A>T (p.Glu3302Asp)
6g.51627016T>CCA450411499PKHD1c.11766A>G (p.Glu3922=)
c.11637A>G (p.Glu3879=)
c.11628A>G (p.Glu3876=)
c.11124A>G (p.Glu3708=)
c.11055A>G (p.Glu3685=)
c.5841A>G (p.Glu1947=)
c.11691A>G (p.Glu3897=)
c.11571A>G (p.Glu3857=)
c.11502A>G (p.Glu3834=)
c.9906A>G (p.Glu3302=)
6g.51627016T>GCA364418407PKHD1c.11766A>C (p.Glu3922Asp)
c.11637A>C (p.Glu3879Asp)
c.11628A>C (p.Glu3876Asp)
c.11124A>C (p.Glu3708Asp)
c.11055A>C (p.Glu3685Asp)
c.5841A>C (p.Glu1947Asp)
c.11691A>C (p.Glu3897Asp)
c.11571A>C (p.Glu3857Asp)
c.11502A>C (p.Glu3834Asp)
c.9906A>C (p.Glu3302Asp)
6g.51627017delCA138875838PKHD1c.11766del (p.Asp3923ThrfsTer8)
c.11637del (p.Asp3880ThrfsTer8)
c.11628del (p.Asp3877ThrfsTer8)
c.11124del (p.Asp3709ThrfsTer8)
c.11055del (p.Asp3686ThrfsTer8)
c.5841del (p.Asp1948ThrfsTer8)
c.11691del (p.Asp3898ThrfsTer8)
c.11571del (p.Asp3858ThrfsTer8)
c.11502del (p.Asp3835ThrfsTer8)
c.9906del (p.Asp3303ThrfsTer8)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51627017T>ACA364418410PKHD1c.11765A>T (p.Glu3922Val)
c.11636A>T (p.Glu3879Val)
c.11627A>T (p.Glu3876Val)
c.11123A>T (p.Glu3708Val)
c.11054A>T (p.Glu3685Val)
c.5840A>T (p.Glu1947Val)
c.11690A>T (p.Glu3897Val)
c.11570A>T (p.Glu3857Val)
c.11501A>T (p.Glu3834Val)
c.9905A>T (p.Glu3302Val)
6g.51627017T>CCA364418411PKHD1c.11765A>G (p.Glu3922Gly)
c.11636A>G (p.Glu3879Gly)
c.11627A>G (p.Glu3876Gly)
c.11123A>G (p.Glu3708Gly)
c.11054A>G (p.Glu3685Gly)
c.5840A>G (p.Glu1947Gly)
c.11690A>G (p.Glu3897Gly)
c.11570A>G (p.Glu3857Gly)
c.11501A>G (p.Glu3834Gly)
c.9905A>G (p.Glu3302Gly)
6g.51627017T>GCA364418414PKHD1c.11765A>C (p.Glu3922Ala)
c.11636A>C (p.Glu3879Ala)
c.11627A>C (p.Glu3876Ala)
c.11123A>C (p.Glu3708Ala)
c.11054A>C (p.Glu3685Ala)
c.5840A>C (p.Glu1947Ala)
c.11690A>C (p.Glu3897Ala)
c.11570A>C (p.Glu3857Ala)
c.11501A>C (p.Glu3834Ala)
c.9905A>C (p.Glu3302Ala)
6g.51627018C>ACA364418422PKHD1c.11764G>T (p.Glu3922Ter)
c.11635G>T (p.Glu3879Ter)
c.11626G>T (p.Glu3876Ter)
c.11122G>T (p.Glu3708Ter)
c.11053G>T (p.Glu3685Ter)
c.5839G>T (p.Glu1947Ter)
c.11689G>T (p.Glu3897Ter)
c.11569G>T (p.Glu3857Ter)
c.11500G>T (p.Glu3834Ter)
c.9904G>T (p.Glu3302Ter)
6g.51627018C>GCA364418420PKHD1c.11764G>C (p.Glu3922Gln)
c.11635G>C (p.Glu3879Gln)
c.11626G>C (p.Glu3876Gln)
c.11122G>C (p.Glu3708Gln)
c.11053G>C (p.Glu3685Gln)
c.5839G>C (p.Glu1947Gln)
c.11689G>C (p.Glu3897Gln)
c.11569G>C (p.Glu3857Gln)
c.11500G>C (p.Glu3834Gln)
c.9904G>C (p.Glu3302Gln)

Number of alleles fetched