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.51627005A=CA1628469282PKHD1c.11777T= (p.Val3926=)
c.11648T= (p.Val3883=)
c.11639T= (p.Val3880=)
c.11135T= (p.Val3712=)
c.11066T= (p.Val3689=)
c.5852T= (p.Val1951=)
c.11702T= (p.Val3901=)
c.11582T= (p.Val3861=)
c.11513T= (p.Val3838=)
c.9917T= (p.Val3306=)
6g.51627005A>CCA364418329PKHD1c.11777T>G (p.Val3926Gly)
c.11648T>G (p.Val3883Gly)
c.11639T>G (p.Val3880Gly)
c.11135T>G (p.Val3712Gly)
c.11066T>G (p.Val3689Gly)
c.5852T>G (p.Val1951Gly)
c.11702T>G (p.Val3901Gly)
c.11582T>G (p.Val3861Gly)
c.11513T>G (p.Val3838Gly)
c.9917T>G (p.Val3306Gly)
 dbSNP gnomAD v2 gnomAD v4
6g.51627005A>GCA364418332PKHD1c.11777T>C (p.Val3926Ala)
c.11648T>C (p.Val3883Ala)
c.11639T>C (p.Val3880Ala)
c.11135T>C (p.Val3712Ala)
c.11066T>C (p.Val3689Ala)
c.5852T>C (p.Val1951Ala)
c.11702T>C (p.Val3901Ala)
c.11582T>C (p.Val3861Ala)
c.11513T>C (p.Val3838Ala)
c.9917T>C (p.Val3306Ala)
6g.51627005A>TCA364418335PKHD1c.11777T>A (p.Val3926Glu)
c.11648T>A (p.Val3883Glu)
c.11639T>A (p.Val3880Glu)
c.11135T>A (p.Val3712Glu)
c.11066T>A (p.Val3689Glu)
c.5852T>A (p.Val1951Glu)
c.11702T>A (p.Val3901Glu)
c.11582T>A (p.Val3861Glu)
c.11513T>A (p.Val3838Glu)
c.9917T>A (p.Val3306Glu)
6g.51627005_51627006delinsACCA1628469280PKHD1c.11776_11777delinsGT (p.Val3926=)
c.11647_11648delinsGT (p.Val3883=)
c.11638_11639delinsGT (p.Val3880=)
c.11134_11135delinsGT (p.Val3712=)
c.11065_11066delinsGT (p.Val3689=)
c.5851_5852delinsGT (p.Val1951=)
c.11701_11702delinsGT (p.Val3901=)
c.11581_11582delinsGT (p.Val3861=)
c.11512_11513delinsGT (p.Val3838=)
c.9916_9917delinsGT (p.Val3306=)
6g.51627006C>ACA364418345PKHD1c.11776G>T (p.Val3926Leu)
c.11647G>T (p.Val3883Leu)
c.11638G>T (p.Val3880Leu)
c.11134G>T (p.Val3712Leu)
c.11065G>T (p.Val3689Leu)
c.5851G>T (p.Val1951Leu)
c.11701G>T (p.Val3901Leu)
c.11581G>T (p.Val3861Leu)
c.11512G>T (p.Val3838Leu)
c.9916G>T (p.Val3306Leu)
6g.51627006C=CA1628469296PKHD1c.11776G= (p.Val3926=)
c.11647G= (p.Val3883=)
c.11638G= (p.Val3880=)
c.11134G= (p.Val3712=)
c.11065G= (p.Val3689=)
c.5851G= (p.Val1951=)
c.11701G= (p.Val3901=)
c.11581G= (p.Val3861=)
c.11512G= (p.Val3838=)
c.9916G= (p.Val3306=)
6g.51627006C>GCA364418343PKHD1c.11776G>C (p.Val3926Leu)
c.11647G>C (p.Val3883Leu)
c.11638G>C (p.Val3880Leu)
c.11134G>C (p.Val3712Leu)
c.11065G>C (p.Val3689Leu)
c.5851G>C (p.Val1951Leu)
c.11701G>C (p.Val3901Leu)
c.11581G>C (p.Val3861Leu)
c.11512G>C (p.Val3838Leu)
c.9916G>C (p.Val3306Leu)
6g.51627006C>TCA364418341PKHD1c.11776G>A (p.Val3926Met)
c.11647G>A (p.Val3883Met)
c.11638G>A (p.Val3880Met)
c.11134G>A (p.Val3712Met)
c.11065G>A (p.Val3689Met)
c.5851G>A (p.Val1951Met)
c.11701G>A (p.Val3901Met)
c.11581G>A (p.Val3861Met)
c.11512G>A (p.Val3838Met)
c.9916G>A (p.Val3306Met)
 dbSNP gnomAD v2 gnomAD v4
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)
6g.51627018C>TCA364418418PKHD1c.11764G>A (p.Glu3922Lys)
c.11635G>A (p.Glu3879Lys)
c.11626G>A (p.Glu3876Lys)
c.11122G>A (p.Glu3708Lys)
c.11053G>A (p.Glu3685Lys)
c.5839G>A (p.Glu1947Lys)
c.11689G>A (p.Glu3897Lys)
c.11569G>A (p.Glu3857Lys)
c.11500G>A (p.Glu3834Lys)
c.9904G>A (p.Glu3302Lys)
6g.51627018_51627019delinsCTCA1628469620PKHD1c.11763_11764delinsAG (p.Lys3921=)
c.11634_11635delinsAG (p.Lys3878=)
c.11625_11626delinsAG (p.Lys3875=)
c.11121_11122delinsAG (p.Lys3707=)
c.11052_11053delinsAG (p.Lys3684=)
c.5838_5839delinsAG (p.Lys1946=)
c.11688_11689delinsAG (p.Lys3896=)
c.11568_11569delinsAG (p.Lys3856=)
c.11499_11500delinsAG (p.Lys3833=)
c.9903_9904delinsAG (p.Lys3301=)
6g.51627019T>ACA364418425PKHD1c.11763A>T (p.Lys3921Asn)
c.11634A>T (p.Lys3878Asn)
c.11625A>T (p.Lys3875Asn)
c.11121A>T (p.Lys3707Asn)
c.11052A>T (p.Lys3684Asn)
c.5838A>T (p.Lys1946Asn)
c.11688A>T (p.Lys3896Asn)
c.11568A>T (p.Lys3856Asn)
c.11499A>T (p.Lys3833Asn)
c.9903A>T (p.Lys3301Asn)
6g.51627019T>CCA450411501PKHD1c.11763A>G (p.Lys3921=)
c.11634A>G (p.Lys3878=)
c.11625A>G (p.Lys3875=)
c.11121A>G (p.Lys3707=)
c.11052A>G (p.Lys3684=)
c.5838A>G (p.Lys1946=)
c.11688A>G (p.Lys3896=)
c.11568A>G (p.Lys3856=)
c.11499A>G (p.Lys3833=)
c.9903A>G (p.Lys3301=)
 ClinVar dbSNP gnomAD v4
6g.51627019T>GCA364418426PKHD1c.11763A>C (p.Lys3921Asn)
c.11634A>C (p.Lys3878Asn)
c.11625A>C (p.Lys3875Asn)
c.11121A>C (p.Lys3707Asn)
c.11052A>C (p.Lys3684Asn)
c.5838A>C (p.Lys1946Asn)
c.11688A>C (p.Lys3896Asn)
c.11568A>C (p.Lys3856Asn)
c.11499A>C (p.Lys3833Asn)
c.9903A>C (p.Lys3301Asn)
 COSMIC
6g.51627024delCA917747839PKHD1c.11763del (p.Glu3922LysfsTer9)
c.11634del (p.Glu3879LysfsTer9)
c.11625del (p.Glu3876LysfsTer9)
c.11121del (p.Glu3708LysfsTer9)
c.11052del (p.Glu3685LysfsTer9)
c.5838del (p.Glu1947LysfsTer9)
c.11688del (p.Glu3897LysfsTer9)
c.11568del (p.Glu3857LysfsTer9)
c.11499del (p.Glu3834LysfsTer9)
c.9903del (p.Glu3302LysfsTer9)
 dbSNP
6g.51627020T>ACA364418429PKHD1c.11762A>T (p.Lys3921Ile)
c.11633A>T (p.Lys3878Ile)
c.11624A>T (p.Lys3875Ile)
c.11120A>T (p.Lys3707Ile)
c.11051A>T (p.Lys3684Ile)
c.5837A>T (p.Lys1946Ile)
c.11687A>T (p.Lys3896Ile)
c.11567A>T (p.Lys3856Ile)
c.11498A>T (p.Lys3833Ile)
c.9902A>T (p.Lys3301Ile)
6g.51627020T>CCA3850710PKHD1c.11762A>G (p.Lys3921Arg)
c.11633A>G (p.Lys3878Arg)
c.11624A>G (p.Lys3875Arg)
c.11120A>G (p.Lys3707Arg)
c.11051A>G (p.Lys3684Arg)
c.5837A>G (p.Lys1946Arg)
c.11687A>G (p.Lys3896Arg)
c.11567A>G (p.Lys3856Arg)
c.11498A>G (p.Lys3833Arg)
c.9902A>G (p.Lys3301Arg)
 dbSNP ExAC
6g.51627020T>GCA364418432PKHD1c.11762A>C (p.Lys3921Thr)
c.11633A>C (p.Lys3878Thr)
c.11624A>C (p.Lys3875Thr)
c.11120A>C (p.Lys3707Thr)
c.11051A>C (p.Lys3684Thr)
c.5837A>C (p.Lys1946Thr)
c.11687A>C (p.Lys3896Thr)
c.11567A>C (p.Lys3856Thr)
c.11498A>C (p.Lys3833Thr)
c.9902A>C (p.Lys3301Thr)
6g.51627020T=CA1628469634PKHD1c.11762A= (p.Lys3921=)
c.11633A= (p.Lys3878=)
c.11624A= (p.Lys3875=)
c.11120A= (p.Lys3707=)
c.11051A= (p.Lys3684=)
c.5837A= (p.Lys1946=)
c.11687A= (p.Lys3896=)
c.11567A= (p.Lys3856=)
c.11498A= (p.Lys3833=)
c.9902A= (p.Lys3301=)
6g.51627021T>ACA364418436PKHD1c.11761A>T (p.Lys3921Ter)
c.11632A>T (p.Lys3878Ter)
c.11623A>T (p.Lys3875Ter)
c.11119A>T (p.Lys3707Ter)
c.11050A>T (p.Lys3684Ter)
c.5836A>T (p.Lys1946Ter)
c.11686A>T (p.Lys3896Ter)
c.11566A>T (p.Lys3856Ter)
c.11497A>T (p.Lys3833Ter)
c.9901A>T (p.Lys3301Ter)
6g.51627021T>CCA364418439PKHD1c.11761A>G (p.Lys3921Glu)
c.11632A>G (p.Lys3878Glu)
c.11623A>G (p.Lys3875Glu)
c.11119A>G (p.Lys3707Glu)
c.11050A>G (p.Lys3684Glu)
c.5836A>G (p.Lys1946Glu)
c.11686A>G (p.Lys3896Glu)
c.11566A>G (p.Lys3856Glu)
c.11497A>G (p.Lys3833Glu)
c.9901A>G (p.Lys3301Glu)
6g.51627021T>GCA364418442PKHD1c.11761A>C (p.Lys3921Gln)
c.11632A>C (p.Lys3878Gln)
c.11623A>C (p.Lys3875Gln)
c.11119A>C (p.Lys3707Gln)
c.11050A>C (p.Lys3684Gln)
c.5836A>C (p.Lys1946Gln)
c.11686A>C (p.Lys3896Gln)
c.11566A>C (p.Lys3856Gln)
c.11497A>C (p.Lys3833Gln)
c.9901A>C (p.Lys3301Gln)
6g.51627022T>ACA364418450PKHD1c.11760A>T (p.Lys3920Asn)
c.11631A>T (p.Lys3877Asn)
c.11622A>T (p.Lys3874Asn)
c.11118A>T (p.Lys3706Asn)
c.11049A>T (p.Lys3683Asn)
c.5835A>T (p.Lys1945Asn)
c.11685A>T (p.Lys3895Asn)
c.11565A>T (p.Lys3855Asn)
c.11496A>T (p.Lys3832Asn)
c.9900A>T (p.Lys3300Asn)
6g.51627022T>CCA450411503PKHD1c.11760A>G (p.Lys3920=)
c.11631A>G (p.Lys3877=)
c.11622A>G (p.Lys3874=)
c.11118A>G (p.Lys3706=)
c.11049A>G (p.Lys3683=)
c.5835A>G (p.Lys1945=)
c.11685A>G (p.Lys3895=)
c.11565A>G (p.Lys3855=)
c.11496A>G (p.Lys3832=)
c.9900A>G (p.Lys3300=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51627022T>GCA364418451PKHD1c.11760A>C (p.Lys3920Asn)
c.11631A>C (p.Lys3877Asn)
c.11622A>C (p.Lys3874Asn)
c.11118A>C (p.Lys3706Asn)
c.11049A>C (p.Lys3683Asn)
c.5835A>C (p.Lys1945Asn)
c.11685A>C (p.Lys3895Asn)
c.11565A>C (p.Lys3855Asn)
c.11496A>C (p.Lys3832Asn)
c.9900A>C (p.Lys3300Asn)
6g.51627022T=CA1628469638PKHD1c.11760A= (p.Lys3920=)
c.11631A= (p.Lys3877=)
c.11622A= (p.Lys3874=)
c.11118A= (p.Lys3706=)
c.11049A= (p.Lys3683=)
c.5835A= (p.Lys1945=)
c.11685A= (p.Lys3895=)
c.11565A= (p.Lys3855=)
c.11496A= (p.Lys3832=)
c.9900A= (p.Lys3300=)
6g.51627023T>ACA364418562PKHD1c.11759A>T (p.Lys3920Ile)
c.11630A>T (p.Lys3877Ile)
c.11621A>T (p.Lys3874Ile)
c.11117A>T (p.Lys3706Ile)
c.11048A>T (p.Lys3683Ile)
c.5834A>T (p.Lys1945Ile)
c.11684A>T (p.Lys3895Ile)
c.11564A>T (p.Lys3855Ile)
c.11495A>T (p.Lys3832Ile)
c.9899A>T (p.Lys3300Ile)
6g.51627023T>CCA3850711PKHD1c.11759A>G (p.Lys3920Arg)
c.11630A>G (p.Lys3877Arg)
c.11621A>G (p.Lys3874Arg)
c.11117A>G (p.Lys3706Arg)
c.11048A>G (p.Lys3683Arg)
c.5834A>G (p.Lys1945Arg)
c.11684A>G (p.Lys3895Arg)
c.11564A>G (p.Lys3855Arg)
c.11495A>G (p.Lys3832Arg)
c.9899A>G (p.Lys3300Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51627023T>GCA364418564PKHD1c.11759A>C (p.Lys3920Thr)
c.11630A>C (p.Lys3877Thr)
c.11621A>C (p.Lys3874Thr)
c.11117A>C (p.Lys3706Thr)
c.11048A>C (p.Lys3683Thr)
c.5834A>C (p.Lys1945Thr)
c.11684A>C (p.Lys3895Thr)
c.11564A>C (p.Lys3855Thr)
c.11495A>C (p.Lys3832Thr)
c.9899A>C (p.Lys3300Thr)
6g.51627023T=CA1628469652PKHD1c.11759A= (p.Lys3920=)
c.11630A= (p.Lys3877=)
c.11621A= (p.Lys3874=)
c.11117A= (p.Lys3706=)
c.11048A= (p.Lys3683=)
c.5834A= (p.Lys1945=)
c.11684A= (p.Lys3895=)
c.11564A= (p.Lys3855=)
c.11495A= (p.Lys3832=)
c.9899A= (p.Lys3300=)
6g.51627024T>ACA364418569PKHD1c.11758A>T (p.Lys3920Ter)
c.11629A>T (p.Lys3877Ter)
c.11620A>T (p.Lys3874Ter)
c.11116A>T (p.Lys3706Ter)
c.11047A>T (p.Lys3683Ter)
c.5833A>T (p.Lys1945Ter)
c.11683A>T (p.Lys3895Ter)
c.11563A>T (p.Lys3855Ter)
c.11494A>T (p.Lys3832Ter)
c.9898A>T (p.Lys3300Ter)
6g.51627024T>CCA364418572PKHD1c.11758A>G (p.Lys3920Glu)
c.11629A>G (p.Lys3877Glu)
c.11620A>G (p.Lys3874Glu)
c.11116A>G (p.Lys3706Glu)
c.11047A>G (p.Lys3683Glu)
c.5833A>G (p.Lys1945Glu)
c.11683A>G (p.Lys3895Glu)
c.11563A>G (p.Lys3855Glu)
c.11494A>G (p.Lys3832Glu)
c.9898A>G (p.Lys3300Glu)
 dbSNP gnomAD v4
6g.51627024T>GCA364418567PKHD1c.11758A>C (p.Lys3920Gln)
c.11629A>C (p.Lys3877Gln)
c.11620A>C (p.Lys3874Gln)
c.11116A>C (p.Lys3706Gln)
c.11047A>C (p.Lys3683Gln)
c.5833A>C (p.Lys1945Gln)
c.11683A>C (p.Lys3895Gln)
c.11563A>C (p.Lys3855Gln)
c.11494A>C (p.Lys3832Gln)
c.9898A>C (p.Lys3300Gln)
 dbSNP gnomAD v4
6g.51627024T=CA1628469657PKHD1c.11758A= (p.Lys3920=)
c.11629A= (p.Lys3877=)
c.11620A= (p.Lys3874=)
c.11116A= (p.Lys3706=)
c.11047A= (p.Lys3683=)
c.5833A= (p.Lys1945=)
c.11683A= (p.Lys3895=)
c.11563A= (p.Lys3855=)
c.11494A= (p.Lys3832=)
c.9898A= (p.Lys3300=)
6g.51627025G>ACA450411507PKHD1c.11757C>T (p.Pro3919=)
c.11628C>T (p.Pro3876=)
c.11619C>T (p.Pro3873=)
c.11115C>T (p.Pro3705=)
c.11046C>T (p.Pro3682=)
c.5832C>T (p.Pro1944=)
c.11682C>T (p.Pro3894=)
c.11562C>T (p.Pro3854=)
c.11493C>T (p.Pro3831=)
c.9897C>T (p.Pro3299=)
6g.51627025G>CCA450411505PKHD1c.11757C>G (p.Pro3919=)
c.11628C>G (p.Pro3876=)
c.11619C>G (p.Pro3873=)
c.11115C>G (p.Pro3705=)
c.11046C>G (p.Pro3682=)
c.5832C>G (p.Pro1944=)
c.11682C>G (p.Pro3894=)
c.11562C>G (p.Pro3854=)
c.11493C>G (p.Pro3831=)
c.9897C>G (p.Pro3299=)
6g.51627025G>TCA450411506PKHD1c.11757C>A (p.Pro3919=)
c.11628C>A (p.Pro3876=)
c.11619C>A (p.Pro3873=)
c.11115C>A (p.Pro3705=)
c.11046C>A (p.Pro3682=)
c.5832C>A (p.Pro1944=)
c.11682C>A (p.Pro3894=)
c.11562C>A (p.Pro3854=)
c.11493C>A (p.Pro3831=)
c.9897C>A (p.Pro3299=)
6g.51627026G>ACA3850712PKHD1c.11756C>T (p.Pro3919Leu)
c.11627C>T (p.Pro3876Leu)
c.11618C>T (p.Pro3873Leu)
c.11114C>T (p.Pro3705Leu)
c.11045C>T (p.Pro3682Leu)
c.5831C>T (p.Pro1944Leu)
c.11681C>T (p.Pro3894Leu)
c.11561C>T (p.Pro3854Leu)
c.11492C>T (p.Pro3831Leu)
c.9896C>T (p.Pro3299Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51627026G>CCA364418575PKHD1c.11756C>G (p.Pro3919Arg)
c.11627C>G (p.Pro3876Arg)
c.11618C>G (p.Pro3873Arg)
c.11114C>G (p.Pro3705Arg)
c.11045C>G (p.Pro3682Arg)
c.5831C>G (p.Pro1944Arg)
c.11681C>G (p.Pro3894Arg)
c.11561C>G (p.Pro3854Arg)
c.11492C>G (p.Pro3831Arg)
c.9896C>G (p.Pro3299Arg)
6g.51627026G=CA1628469664PKHD1c.11756C= (p.Pro3919=)
c.11627C= (p.Pro3876=)
c.11618C= (p.Pro3873=)
c.11114C= (p.Pro3705=)
c.11045C= (p.Pro3682=)
c.5831C= (p.Pro1944=)
c.11681C= (p.Pro3894=)
c.11561C= (p.Pro3854=)
c.11492C= (p.Pro3831=)
c.9896C= (p.Pro3299=)
6g.51627026G>TCA364418578PKHD1c.11756C>A (p.Pro3919His)
c.11627C>A (p.Pro3876His)
c.11618C>A (p.Pro3873His)
c.11114C>A (p.Pro3705His)
c.11045C>A (p.Pro3682His)
c.5831C>A (p.Pro1944His)
c.11681C>A (p.Pro3894His)
c.11561C>A (p.Pro3854His)
c.11492C>A (p.Pro3831His)
c.9896C>A (p.Pro3299His)
6g.51627027G>ACA3850714PKHD1c.11755C>T (p.Pro3919Ser)
c.11626C>T (p.Pro3876Ser)
c.11617C>T (p.Pro3873Ser)
c.11113C>T (p.Pro3705Ser)
c.11044C>T (p.Pro3682Ser)
c.5830C>T (p.Pro1944Ser)
c.11680C>T (p.Pro3894Ser)
c.11560C>T (p.Pro3854Ser)
c.11491C>T (p.Pro3831Ser)
c.9895C>T (p.Pro3299Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51627027G>CCA364418584PKHD1c.11755C>G (p.Pro3919Ala)
c.11626C>G (p.Pro3876Ala)
c.11617C>G (p.Pro3873Ala)
c.11113C>G (p.Pro3705Ala)
c.11044C>G (p.Pro3682Ala)
c.5830C>G (p.Pro1944Ala)
c.11680C>G (p.Pro3894Ala)
c.11560C>G (p.Pro3854Ala)
c.11491C>G (p.Pro3831Ala)
c.9895C>G (p.Pro3299Ala)
6g.51627027G=CA1628469671PKHD1c.11755C= (p.Pro3919=)
c.11626C= (p.Pro3876=)
c.11617C= (p.Pro3873=)
c.11113C= (p.Pro3705=)
c.11044C= (p.Pro3682=)
c.5830C= (p.Pro1944=)
c.11680C= (p.Pro3894=)
c.11560C= (p.Pro3854=)
c.11491C= (p.Pro3831=)
c.9895C= (p.Pro3299=)
6g.51627027G>TCA3850713PKHD1c.11755C>A (p.Pro3919Thr)
c.11626C>A (p.Pro3876Thr)
c.11617C>A (p.Pro3873Thr)
c.11113C>A (p.Pro3705Thr)
c.11044C>A (p.Pro3682Thr)
c.5830C>A (p.Pro1944Thr)
c.11680C>A (p.Pro3894Thr)
c.11560C>A (p.Pro3854Thr)
c.11491C>A (p.Pro3831Thr)
c.9895C>A (p.Pro3299Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51627028C>ACA3850715PKHD1c.11754G>T (p.Gly3918=)
c.11625G>T (p.Gly3875=)
c.11616G>T (p.Gly3872=)
c.11112G>T (p.Gly3704=)
c.11043G>T (p.Gly3681=)
c.5829G>T (p.Gly1943=)
c.11679G>T (p.Gly3893=)
c.11559G>T (p.Gly3853=)
c.11490G>T (p.Gly3830=)
c.9894G>T (p.Gly3298=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51627028C=CA1628469678PKHD1c.11754G= (p.Gly3918=)
c.11625G= (p.Gly3875=)
c.11616G= (p.Gly3872=)
c.11112G= (p.Gly3704=)
c.11043G= (p.Gly3681=)
c.5829G= (p.Gly1943=)
c.11679G= (p.Gly3893=)
c.11559G= (p.Gly3853=)
c.11490G= (p.Gly3830=)
c.9894G= (p.Gly3298=)
6g.51627028C>GCA450411510PKHD1c.11754G>C (p.Gly3918=)
c.11625G>C (p.Gly3875=)
c.11616G>C (p.Gly3872=)
c.11112G>C (p.Gly3704=)
c.11043G>C (p.Gly3681=)
c.5829G>C (p.Gly1943=)
c.11679G>C (p.Gly3893=)
c.11559G>C (p.Gly3853=)
c.11490G>C (p.Gly3830=)
c.9894G>C (p.Gly3298=)
6g.51627028C>TCA450411511PKHD1c.11754G>A (p.Gly3918=)
c.11625G>A (p.Gly3875=)
c.11616G>A (p.Gly3872=)
c.11112G>A (p.Gly3704=)
c.11043G>A (p.Gly3681=)
c.5829G>A (p.Gly1943=)
c.11679G>A (p.Gly3893=)
c.11559G>A (p.Gly3853=)
c.11490G>A (p.Gly3830=)
c.9894G>A (p.Gly3298=)
 gnomAD v4
6g.51627030delCA2679076441PKHD1c.11754del (p.Glu3922LysfsTer9)
c.11625del (p.Glu3879LysfsTer9)
c.11616del (p.Glu3876LysfsTer9)
c.11112del (p.Glu3708LysfsTer9)
c.11043del (p.Glu3685LysfsTer9)
c.5829del (p.Glu1947LysfsTer9)
c.11679del (p.Glu3897LysfsTer9)
c.11559del (p.Glu3857LysfsTer9)
c.11490del (p.Glu3834LysfsTer9)
c.9894del (p.Glu3302LysfsTer9)
 gnomAD v4
6g.51627029C>ACA364418595PKHD1c.11753G>T (p.Gly3918Val)
c.11624G>T (p.Gly3875Val)
c.11615G>T (p.Gly3872Val)
c.11111G>T (p.Gly3704Val)
c.11042G>T (p.Gly3681Val)
c.5828G>T (p.Gly1943Val)
c.11678G>T (p.Gly3893Val)
c.11558G>T (p.Gly3853Val)
c.11489G>T (p.Gly3830Val)
c.9893G>T (p.Gly3298Val)
 dbSNP gnomAD v3 gnomAD v4
6g.51627029C=CA1628469689PKHD1c.11753G= (p.Gly3918=)
c.11624G= (p.Gly3875=)
c.11615G= (p.Gly3872=)
c.11111G= (p.Gly3704=)
c.11042G= (p.Gly3681=)
c.5828G= (p.Gly1943=)
c.11678G= (p.Gly3893=)
c.11558G= (p.Gly3853=)
c.11489G= (p.Gly3830=)
c.9893G= (p.Gly3298=)
6g.51627029C>GCA364418589PKHD1c.11753G>C (p.Gly3918Ala)
c.11624G>C (p.Gly3875Ala)
c.11615G>C (p.Gly3872Ala)
c.11111G>C (p.Gly3704Ala)
c.11042G>C (p.Gly3681Ala)
c.5828G>C (p.Gly1943Ala)
c.11678G>C (p.Gly3893Ala)
c.11558G>C (p.Gly3853Ala)
c.11489G>C (p.Gly3830Ala)
c.9893G>C (p.Gly3298Ala)
6g.51627029C>TCA364418592PKHD1c.11753G>A (p.Gly3918Glu)
c.11624G>A (p.Gly3875Glu)
c.11615G>A (p.Gly3872Glu)
c.11111G>A (p.Gly3704Glu)
c.11042G>A (p.Gly3681Glu)
c.5828G>A (p.Gly1943Glu)
c.11678G>A (p.Gly3893Glu)
c.11558G>A (p.Gly3853Glu)
c.11489G>A (p.Gly3830Glu)
c.9893G>A (p.Gly3298Glu)
 dbSNP
6g.51627030C>ACA364418598PKHD1c.11752G>T (p.Gly3918Trp)
c.11623G>T (p.Gly3875Trp)
c.11614G>T (p.Gly3872Trp)
c.11110G>T (p.Gly3704Trp)
c.11041G>T (p.Gly3681Trp)
c.5827G>T (p.Gly1943Trp)
c.11677G>T (p.Gly3893Trp)
c.11557G>T (p.Gly3853Trp)
c.11488G>T (p.Gly3830Trp)
c.9892G>T (p.Gly3298Trp)
 gnomAD v4
6g.51627030C>GCA364418599PKHD1c.11752G>C (p.Gly3918Arg)
c.11623G>C (p.Gly3875Arg)
c.11614G>C (p.Gly3872Arg)
c.11110G>C (p.Gly3704Arg)
c.11041G>C (p.Gly3681Arg)
c.5827G>C (p.Gly1943Arg)
c.11677G>C (p.Gly3893Arg)
c.11557G>C (p.Gly3853Arg)
c.11488G>C (p.Gly3830Arg)
c.9892G>C (p.Gly3298Arg)
 gnomAD v4
6g.51627030C>TCA364418602PKHD1c.11752G>A (p.Gly3918Arg)
c.11623G>A (p.Gly3875Arg)
c.11614G>A (p.Gly3872Arg)
c.11110G>A (p.Gly3704Arg)
c.11041G>A (p.Gly3681Arg)
c.5827G>A (p.Gly1943Arg)
c.11677G>A (p.Gly3893Arg)
c.11557G>A (p.Gly3853Arg)
c.11488G>A (p.Gly3830Arg)
c.9892G>A (p.Gly3298Arg)
 COSMIC
6g.51627031_51627710delCA2499218341PKHD1c.11666-593_11752del
c.11537-593_11623del
c.11528-593_11614del
c.11024-593_11110del
c.10955-593_11041del
c.5741-593_5827del
c.11591-593_11677del
c.11471-593_11557del
c.11402-593_11488del
c.9806-593_9892del
 ClinVar dbSNP
6g.51627031T>ACA364418606PKHD1c.11751A>T (p.Gln3917His)
c.11622A>T (p.Gln3874His)
c.11613A>T (p.Gln3871His)
c.11109A>T (p.Gln3703His)
c.11040A>T (p.Gln3680His)
c.5826A>T (p.Gln1942His)
c.11676A>T (p.Gln3892His)
c.11556A>T (p.Gln3852His)
c.11487A>T (p.Gln3829His)
c.9891A>T (p.Gln3297His)
6g.51627031T>CCA450411512PKHD1c.11751A>G (p.Gln3917=)
c.11622A>G (p.Gln3874=)
c.11613A>G (p.Gln3871=)
c.11109A>G (p.Gln3703=)
c.11040A>G (p.Gln3680=)
c.5826A>G (p.Gln1942=)
c.11676A>G (p.Gln3892=)
c.11556A>G (p.Gln3852=)
c.11487A>G (p.Gln3829=)
c.9891A>G (p.Gln3297=)
6g.51627031T>GCA364418611PKHD1c.11751A>C (p.Gln3917His)
c.11622A>C (p.Gln3874His)
c.11613A>C (p.Gln3871His)
c.11109A>C (p.Gln3703His)
c.11040A>C (p.Gln3680His)
c.5826A>C (p.Gln1942His)
c.11676A>C (p.Gln3892His)
c.11556A>C (p.Gln3852His)
c.11487A>C (p.Gln3829His)
c.9891A>C (p.Gln3297His)
 gnomAD v4
6g.51627032T>ACA364418614PKHD1c.11750A>T (p.Gln3917Leu)
c.11621A>T (p.Gln3874Leu)
c.11612A>T (p.Gln3871Leu)
c.11108A>T (p.Gln3703Leu)
c.11039A>T (p.Gln3680Leu)
c.5825A>T (p.Gln1942Leu)
c.11675A>T (p.Gln3892Leu)
c.11555A>T (p.Gln3852Leu)
c.11486A>T (p.Gln3829Leu)
c.9890A>T (p.Gln3297Leu)
6g.51627032T>CCA364418618PKHD1c.11750A>G (p.Gln3917Arg)
c.11621A>G (p.Gln3874Arg)
c.11612A>G (p.Gln3871Arg)
c.11108A>G (p.Gln3703Arg)
c.11039A>G (p.Gln3680Arg)
c.5825A>G (p.Gln1942Arg)
c.11675A>G (p.Gln3892Arg)
c.11555A>G (p.Gln3852Arg)
c.11486A>G (p.Gln3829Arg)
c.9890A>G (p.Gln3297Arg)
6g.51627032T>GCA364418617PKHD1c.11750A>C (p.Gln3917Pro)
c.11621A>C (p.Gln3874Pro)
c.11612A>C (p.Gln3871Pro)
c.11108A>C (p.Gln3703Pro)
c.11039A>C (p.Gln3680Pro)
c.5825A>C (p.Gln1942Pro)
c.11675A>C (p.Gln3892Pro)
c.11555A>C (p.Gln3852Pro)
c.11486A>C (p.Gln3829Pro)
c.9890A>C (p.Gln3297Pro)
 gnomAD v4
6g.51627032_51627033delinsTGCA1628469692PKHD1c.11749_11750delinsCA (p.Gln3917=)
c.11620_11621delinsCA (p.Gln3874=)
c.11611_11612delinsCA (p.Gln3871=)
c.11107_11108delinsCA (p.Gln3703=)
c.11038_11039delinsCA (p.Gln3680=)
c.5824_5825delinsCA (p.Gln1942=)
c.11674_11675delinsCA (p.Gln3892=)
c.11554_11555delinsCA (p.Gln3852=)
c.11485_11486delinsCA (p.Gln3829=)
c.9889_9890delinsCA (p.Gln3297=)
6g.51627033delCA567278223PKHD1c.11749del (p.Gln3917LysfsTer14)
c.11620del (p.Gln3874LysfsTer14)
c.11611del (p.Gln3871LysfsTer14)
c.11107del (p.Gln3703LysfsTer14)
c.11038del (p.Gln3680LysfsTer14)
c.5824del (p.Gln1942LysfsTer14)
c.11674del (p.Gln3892LysfsTer14)
c.11554del (p.Gln3852LysfsTer14)
c.11485del (p.Gln3829LysfsTer14)
c.9889del (p.Gln3297LysfsTer14)
 dbSNP gnomAD v2 gnomAD v4
6g.51627033G>ACA364418621PKHD1c.11749C>T (p.Gln3917Ter)
c.11620C>T (p.Gln3874Ter)
c.11611C>T (p.Gln3871Ter)
c.11107C>T (p.Gln3703Ter)
c.11038C>T (p.Gln3680Ter)
c.5824C>T (p.Gln1942Ter)
c.11674C>T (p.Gln3892Ter)
c.11554C>T (p.Gln3852Ter)
c.11485C>T (p.Gln3829Ter)
c.9889C>T (p.Gln3297Ter)
6g.51627033G>CCA364418624PKHD1c.11749C>G (p.Gln3917Glu)
c.11620C>G (p.Gln3874Glu)
c.11611C>G (p.Gln3871Glu)
c.11107C>G (p.Gln3703Glu)
c.11038C>G (p.Gln3680Glu)
c.5824C>G (p.Gln1942Glu)
c.11674C>G (p.Gln3892Glu)
c.11554C>G (p.Gln3852Glu)
c.11485C>G (p.Gln3829Glu)
c.9889C>G (p.Gln3297Glu)
6g.51627033G>TCA364418628PKHD1c.11749C>A (p.Gln3917Lys)
c.11620C>A (p.Gln3874Lys)
c.11611C>A (p.Gln3871Lys)
c.11107C>A (p.Gln3703Lys)
c.11038C>A (p.Gln3680Lys)
c.5824C>A (p.Gln1942Lys)
c.11674C>A (p.Gln3892Lys)
c.11554C>A (p.Gln3852Lys)
c.11485C>A (p.Gln3829Lys)
c.9889C>A (p.Gln3297Lys)
6g.51627034T>ACA450411516PKHD1c.11748A>T (p.Ser3916=)
c.11619A>T (p.Ser3873=)
c.11610A>T (p.Ser3870=)
c.11106A>T (p.Ser3702=)
c.11037A>T (p.Ser3679=)
c.5823A>T (p.Ser1941=)
c.11673A>T (p.Ser3891=)
c.11553A>T (p.Ser3851=)
c.11484A>T (p.Ser3828=)
c.9888A>T (p.Ser3296=)
6g.51627034T>CCA450411517PKHD1c.11748A>G (p.Ser3916=)
c.11619A>G (p.Ser3873=)
c.11610A>G (p.Ser3870=)
c.11106A>G (p.Ser3702=)
c.11037A>G (p.Ser3679=)
c.5823A>G (p.Ser1941=)
c.11673A>G (p.Ser3891=)
c.11553A>G (p.Ser3851=)
c.11484A>G (p.Ser3828=)
c.9888A>G (p.Ser3296=)
6g.51627034T>GCA450411518PKHD1c.11748A>C (p.Ser3916=)
c.11619A>C (p.Ser3873=)
c.11610A>C (p.Ser3870=)
c.11106A>C (p.Ser3702=)
c.11037A>C (p.Ser3679=)
c.5823A>C (p.Ser1941=)
c.11673A>C (p.Ser3891=)
c.11553A>C (p.Ser3851=)
c.11484A>C (p.Ser3828=)
c.9888A>C (p.Ser3296=)
 gnomAD v4
6g.51627035G>ACA364418631PKHD1c.11747C>T (p.Ser3916Leu)
c.11618C>T (p.Ser3873Leu)
c.11609C>T (p.Ser3870Leu)
c.11105C>T (p.Ser3702Leu)
c.11036C>T (p.Ser3679Leu)
c.5822C>T (p.Ser1941Leu)
c.11672C>T (p.Ser3891Leu)
c.11552C>T (p.Ser3851Leu)
c.11483C>T (p.Ser3828Leu)
c.9887C>T (p.Ser3296Leu)
 gnomAD v4
6g.51627035G>CCA3850716PKHD1c.11747C>G (p.Ser3916Ter)
c.11618C>G (p.Ser3873Ter)
c.11609C>G (p.Ser3870Ter)
c.11105C>G (p.Ser3702Ter)
c.11036C>G (p.Ser3679Ter)
c.5822C>G (p.Ser1941Ter)
c.11672C>G (p.Ser3891Ter)
c.11552C>G (p.Ser3851Ter)
c.11483C>G (p.Ser3828Ter)
c.9887C>G (p.Ser3296Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51627035G=CA1628469703PKHD1c.11747C= (p.Ser3916=)
c.11618C= (p.Ser3873=)
c.11609C= (p.Ser3870=)
c.11105C= (p.Ser3702=)
c.11036C= (p.Ser3679=)
c.5822C= (p.Ser1941=)
c.11672C= (p.Ser3891=)
c.11552C= (p.Ser3851=)
c.11483C= (p.Ser3828=)
c.9887C= (p.Ser3296=)
6g.51627035G>TCA364418635PKHD1c.11747C>A (p.Ser3916Ter)
c.11618C>A (p.Ser3873Ter)
c.11609C>A (p.Ser3870Ter)
c.11105C>A (p.Ser3702Ter)
c.11036C>A (p.Ser3679Ter)
c.5822C>A (p.Ser1941Ter)
c.11672C>A (p.Ser3891Ter)
c.11552C>A (p.Ser3851Ter)
c.11483C>A (p.Ser3828Ter)
c.9887C>A (p.Ser3296Ter)
6g.51627036A>CCA364418638PKHD1c.11746T>G (p.Ser3916Ala)
c.11617T>G (p.Ser3873Ala)
c.11608T>G (p.Ser3870Ala)
c.11104T>G (p.Ser3702Ala)
c.11035T>G (p.Ser3679Ala)
c.5821T>G (p.Ser1941Ala)
c.11671T>G (p.Ser3891Ala)
c.11551T>G (p.Ser3851Ala)
c.11482T>G (p.Ser3828Ala)
c.9886T>G (p.Ser3296Ala)
 gnomAD v4
6g.51627036A>GCA364418640PKHD1c.11746T>C (p.Ser3916Pro)
c.11617T>C (p.Ser3873Pro)
c.11608T>C (p.Ser3870Pro)
c.11104T>C (p.Ser3702Pro)
c.11035T>C (p.Ser3679Pro)
c.5821T>C (p.Ser1941Pro)
c.11671T>C (p.Ser3891Pro)
c.11551T>C (p.Ser3851Pro)
c.11482T>C (p.Ser3828Pro)
c.9886T>C (p.Ser3296Pro)
6g.51627036A>TCA364418643PKHD1c.11746T>A (p.Ser3916Thr)
c.11617T>A (p.Ser3873Thr)
c.11608T>A (p.Ser3870Thr)
c.11104T>A (p.Ser3702Thr)
c.11035T>A (p.Ser3679Thr)
c.5821T>A (p.Ser1941Thr)
c.11671T>A (p.Ser3891Thr)
c.11551T>A (p.Ser3851Thr)
c.11482T>A (p.Ser3828Thr)
c.9886T>A (p.Ser3296Thr)
6g.51627037T>ACA364418646PKHD1c.11745A>T (p.Glu3915Asp)
c.11616A>T (p.Glu3872Asp)
c.11607A>T (p.Glu3869Asp)
c.11103A>T (p.Glu3701Asp)
c.11034A>T (p.Glu3678Asp)
c.5820A>T (p.Glu1940Asp)
c.11670A>T (p.Glu3890Asp)
c.11550A>T (p.Glu3850Asp)
c.11481A>T (p.Glu3827Asp)
c.9885A>T (p.Glu3295Asp)
6g.51627037T>CCA450411521PKHD1c.11745A>G (p.Glu3915=)
c.11616A>G (p.Glu3872=)
c.11607A>G (p.Glu3869=)
c.11103A>G (p.Glu3701=)
c.11034A>G (p.Glu3678=)
c.5820A>G (p.Glu1940=)
c.11670A>G (p.Glu3890=)
c.11550A>G (p.Glu3850=)
c.11481A>G (p.Glu3827=)
c.9885A>G (p.Glu3295=)
6g.51627037T>GCA364418649PKHD1c.11745A>C (p.Glu3915Asp)
c.11616A>C (p.Glu3872Asp)
c.11607A>C (p.Glu3869Asp)
c.11103A>C (p.Glu3701Asp)
c.11034A>C (p.Glu3678Asp)
c.5820A>C (p.Glu1940Asp)
c.11670A>C (p.Glu3890Asp)
c.11550A>C (p.Glu3850Asp)
c.11481A>C (p.Glu3827Asp)
c.9885A>C (p.Glu3295Asp)
6g.51627038T>ACA364418657PKHD1c.11744A>T (p.Glu3915Val)
c.11615A>T (p.Glu3872Val)
c.11606A>T (p.Glu3869Val)
c.11102A>T (p.Glu3701Val)
c.11033A>T (p.Glu3678Val)
c.5819A>T (p.Glu1940Val)
c.11669A>T (p.Glu3890Val)
c.11549A>T (p.Glu3850Val)
c.11480A>T (p.Glu3827Val)
c.9884A>T (p.Glu3295Val)
6g.51627038T>CCA364418654PKHD1c.11744A>G (p.Glu3915Gly)
c.11615A>G (p.Glu3872Gly)
c.11606A>G (p.Glu3869Gly)
c.11102A>G (p.Glu3701Gly)
c.11033A>G (p.Glu3678Gly)
c.5819A>G (p.Glu1940Gly)
c.11669A>G (p.Glu3890Gly)
c.11549A>G (p.Glu3850Gly)
c.11480A>G (p.Glu3827Gly)
c.9884A>G (p.Glu3295Gly)
6g.51627038T>GCA364418651PKHD1c.11744A>C (p.Glu3915Ala)
c.11615A>C (p.Glu3872Ala)
c.11606A>C (p.Glu3869Ala)
c.11102A>C (p.Glu3701Ala)
c.11033A>C (p.Glu3678Ala)
c.5819A>C (p.Glu1940Ala)
c.11669A>C (p.Glu3890Ala)
c.11549A>C (p.Glu3850Ala)
c.11480A>C (p.Glu3827Ala)
c.9884A>C (p.Glu3295Ala)
6g.51627039C>ACA364418661PKHD1c.11743G>T (p.Glu3915Ter)
c.11614G>T (p.Glu3872Ter)
c.11605G>T (p.Glu3869Ter)
c.11101G>T (p.Glu3701Ter)
c.11032G>T (p.Glu3678Ter)
c.5818G>T (p.Glu1940Ter)
c.11668G>T (p.Glu3890Ter)
c.11548G>T (p.Glu3850Ter)
c.11479G>T (p.Glu3827Ter)
c.9883G>T (p.Glu3295Ter)
6g.51627039C=CA1628469712PKHD1c.11743G= (p.Glu3915=)
c.11614G= (p.Glu3872=)
c.11605G= (p.Glu3869=)
c.11101G= (p.Glu3701=)
c.11032G= (p.Glu3678=)
c.5818G= (p.Glu1940=)
c.11668G= (p.Glu3890=)
c.11548G= (p.Glu3850=)
c.11479G= (p.Glu3827=)
c.9883G= (p.Glu3295=)
6g.51627039C>GCA364418664PKHD1c.11743G>C (p.Glu3915Gln)
c.11614G>C (p.Glu3872Gln)
c.11605G>C (p.Glu3869Gln)
c.11101G>C (p.Glu3701Gln)
c.11032G>C (p.Glu3678Gln)
c.5818G>C (p.Glu1940Gln)
c.11668G>C (p.Glu3890Gln)
c.11548G>C (p.Glu3850Gln)
c.11479G>C (p.Glu3827Gln)
c.9883G>C (p.Glu3295Gln)
6g.51627039C>TCA3850717PKHD1c.11743G>A (p.Glu3915Lys)
c.11614G>A (p.Glu3872Lys)
c.11605G>A (p.Glu3869Lys)
c.11101G>A (p.Glu3701Lys)
c.11032G>A (p.Glu3678Lys)
c.5818G>A (p.Glu1940Lys)
c.11668G>A (p.Glu3890Lys)
c.11548G>A (p.Glu3850Lys)
c.11479G>A (p.Glu3827Lys)
c.9883G>A (p.Glu3295Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51627040T>ACA450411524PKHD1c.11742A>T (p.Arg3914=)
c.11613A>T (p.Arg3871=)
c.11604A>T (p.Arg3868=)
c.11100A>T (p.Arg3700=)
c.11031A>T (p.Arg3677=)
c.5817A>T (p.Arg1939=)
c.11667A>T (p.Arg3889=)
c.11547A>T (p.Arg3849=)
c.11478A>T (p.Arg3826=)
c.9882A>T (p.Arg3294=)
6g.51627040T>CCA450411525PKHD1c.11742A>G (p.Arg3914=)
c.11613A>G (p.Arg3871=)
c.11604A>G (p.Arg3868=)
c.11100A>G (p.Arg3700=)
c.11031A>G (p.Arg3677=)
c.5817A>G (p.Arg1939=)
c.11667A>G (p.Arg3889=)
c.11547A>G (p.Arg3849=)
c.11478A>G (p.Arg3826=)
c.9882A>G (p.Arg3294=)
6g.51627040T>GCA450411523PKHD1c.11742A>C (p.Arg3914=)
c.11613A>C (p.Arg3871=)
c.11604A>C (p.Arg3868=)
c.11100A>C (p.Arg3700=)
c.11031A>C (p.Arg3677=)
c.5817A>C (p.Arg1939=)
c.11667A>C (p.Arg3889=)
c.11547A>C (p.Arg3849=)
c.11478A>C (p.Arg3826=)
c.9882A>C (p.Arg3294=)
6g.51627041C>ACA364418667PKHD1c.11741G>T (p.Arg3914Leu)
c.11612G>T (p.Arg3871Leu)
c.11603G>T (p.Arg3868Leu)
c.11099G>T (p.Arg3700Leu)
c.11030G>T (p.Arg3677Leu)
c.5816G>T (p.Arg1939Leu)
c.11666G>T (p.Arg3889Leu)
c.11546G>T (p.Arg3849Leu)
c.11477G>T (p.Arg3826Leu)
c.9881G>T (p.Arg3294Leu)
6g.51627041C=CA1628469719PKHD1c.11741G= (p.Arg3914=)
c.11612G= (p.Arg3871=)
c.11603G= (p.Arg3868=)
c.11099G= (p.Arg3700=)
c.11030G= (p.Arg3677=)
c.5816G= (p.Arg1939=)
c.11666G= (p.Arg3889=)
c.11546G= (p.Arg3849=)
c.11477G= (p.Arg3826=)
c.9881G= (p.Arg3294=)
6g.51627041C>GCA364418671PKHD1c.11741G>C (p.Arg3914Pro)
c.11612G>C (p.Arg3871Pro)
c.11603G>C (p.Arg3868Pro)
c.11099G>C (p.Arg3700Pro)
c.11030G>C (p.Arg3677Pro)
c.5816G>C (p.Arg1939Pro)
c.11666G>C (p.Arg3889Pro)
c.11546G>C (p.Arg3849Pro)
c.11477G>C (p.Arg3826Pro)
c.9881G>C (p.Arg3294Pro)
6g.51627041C>TCA3850718PKHD1c.11741G>A (p.Arg3914Gln)
c.11612G>A (p.Arg3871Gln)
c.11603G>A (p.Arg3868Gln)
c.11099G>A (p.Arg3700Gln)
c.11030G>A (p.Arg3677Gln)
c.5816G>A (p.Arg1939Gln)
c.11666G>A (p.Arg3889Gln)
c.11546G>A (p.Arg3849Gln)
c.11477G>A (p.Arg3826Gln)
c.9881G>A (p.Arg3294Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51627042G>ACA3850719PKHD1c.11740C>T (p.Arg3914Ter)
c.11611C>T (p.Arg3871Ter)
c.11602C>T (p.Arg3868Ter)
c.11098C>T (p.Arg3700Ter)
c.11029C>T (p.Arg3677Ter)
c.5815C>T (p.Arg1939Ter)
c.11665C>T (p.Arg3889Ter)
c.11545C>T (p.Arg3849Ter)
c.11476C>T (p.Arg3826Ter)
c.9880C>T (p.Arg3294Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.51627042G>CCA364418677PKHD1c.11740C>G (p.Arg3914Gly)
c.11611C>G (p.Arg3871Gly)
c.11602C>G (p.Arg3868Gly)
c.11098C>G (p.Arg3700Gly)
c.11029C>G (p.Arg3677Gly)
c.5815C>G (p.Arg1939Gly)
c.11665C>G (p.Arg3889Gly)
c.11545C>G (p.Arg3849Gly)
c.11476C>G (p.Arg3826Gly)
c.9880C>G (p.Arg3294Gly)
6g.51627042G=CA1628469727PKHD1c.11740C= (p.Arg3914=)
c.11611C= (p.Arg3871=)
c.11602C= (p.Arg3868=)
c.11098C= (p.Arg3700=)
c.11029C= (p.Arg3677=)
c.5815C= (p.Arg1939=)
c.11665C= (p.Arg3889=)
c.11545C= (p.Arg3849=)
c.11476C= (p.Arg3826=)
c.9880C= (p.Arg3294=)
6g.51627042G>TCA450411529PKHD1c.11740C>A (p.Arg3914=)
c.11611C>A (p.Arg3871=)
c.11602C>A (p.Arg3868=)
c.11098C>A (p.Arg3700=)
c.11029C>A (p.Arg3677=)
c.5815C>A (p.Arg1939=)
c.11665C>A (p.Arg3889=)
c.11545C>A (p.Arg3849=)
c.11476C>A (p.Arg3826=)
c.9880C>A (p.Arg3294=)
6g.51627043G>ACA450411530PKHD1c.11739C>T (p.Arg3913=)
c.11610C>T (p.Arg3870=)
c.11601C>T (p.Arg3867=)
c.11097C>T (p.Arg3699=)
c.11028C>T (p.Arg3676=)
c.5814C>T (p.Arg1938=)
c.11664C>T (p.Arg3888=)
c.11544C>T (p.Arg3848=)
c.11475C>T (p.Arg3825=)
c.9879C>T (p.Arg3293=)
6g.51627043G>CCA450411531PKHD1c.11739C>G (p.Arg3913=)
c.11610C>G (p.Arg3870=)
c.11601C>G (p.Arg3867=)
c.11097C>G (p.Arg3699=)
c.11028C>G (p.Arg3676=)
c.5814C>G (p.Arg1938=)
c.11664C>G (p.Arg3888=)
c.11544C>G (p.Arg3848=)
c.11475C>G (p.Arg3825=)
c.9879C>G (p.Arg3293=)
6g.51627043G>TCA450411532PKHD1c.11739C>A (p.Arg3913=)
c.11610C>A (p.Arg3870=)
c.11601C>A (p.Arg3867=)
c.11097C>A (p.Arg3699=)
c.11028C>A (p.Arg3676=)
c.5814C>A (p.Arg1938=)
c.11664C>A (p.Arg3888=)
c.11544C>A (p.Arg3848=)
c.11475C>A (p.Arg3825=)
c.9879C>A (p.Arg3293=)
 COSMIC
6g.51627044C>ACA364418683PKHD1c.11738G>T (p.Arg3913Leu)
c.11609G>T (p.Arg3870Leu)
c.11600G>T (p.Arg3867Leu)
c.11096G>T (p.Arg3699Leu)
c.11027G>T (p.Arg3676Leu)
c.5813G>T (p.Arg1938Leu)
c.11663G>T (p.Arg3888Leu)
c.11543G>T (p.Arg3848Leu)
c.11474G>T (p.Arg3825Leu)
c.9878G>T (p.Arg3293Leu)
 dbSNP gnomAD v3 gnomAD v4
6g.51627044C=CA1628469738PKHD1c.11738G= (p.Arg3913=)
c.11609G= (p.Arg3870=)
c.11600G= (p.Arg3867=)
c.11096G= (p.Arg3699=)
c.11027G= (p.Arg3676=)
c.5813G= (p.Arg1938=)
c.11663G= (p.Arg3888=)
c.11543G= (p.Arg3848=)
c.11474G= (p.Arg3825=)
c.9878G= (p.Arg3293=)
6g.51627044C>GCA364418686PKHD1c.11738G>C (p.Arg3913Pro)
c.11609G>C (p.Arg3870Pro)
c.11600G>C (p.Arg3867Pro)
c.11096G>C (p.Arg3699Pro)
c.11027G>C (p.Arg3676Pro)
c.5813G>C (p.Arg1938Pro)
c.11663G>C (p.Arg3888Pro)
c.11543G>C (p.Arg3848Pro)
c.11474G>C (p.Arg3825Pro)
c.9878G>C (p.Arg3293Pro)
6g.51627044C>TCA3850720PKHD1c.11738G>A (p.Arg3913His)
c.11609G>A (p.Arg3870His)
c.11600G>A (p.Arg3867His)
c.11096G>A (p.Arg3699His)
c.11027G>A (p.Arg3676His)
c.5813G>A (p.Arg1938His)
c.11663G>A (p.Arg3888His)
c.11543G>A (p.Arg3848His)
c.11474G>A (p.Arg3825His)
c.9878G>A (p.Arg3293His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51627045G>ACA3850721PKHD1c.11737C>T (p.Arg3913Cys)
c.11608C>T (p.Arg3870Cys)
c.11599C>T (p.Arg3867Cys)
c.11095C>T (p.Arg3699Cys)
c.11026C>T (p.Arg3676Cys)
c.5812C>T (p.Arg1938Cys)
c.11662C>T (p.Arg3888Cys)
c.11542C>T (p.Arg3848Cys)
c.11473C>T (p.Arg3825Cys)
c.9877C>T (p.Arg3293Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.51627045G>CCA364418691PKHD1c.11737C>G (p.Arg3913Gly)
c.11608C>G (p.Arg3870Gly)
c.11599C>G (p.Arg3867Gly)
c.11095C>G (p.Arg3699Gly)
c.11026C>G (p.Arg3676Gly)
c.5812C>G (p.Arg1938Gly)
c.11662C>G (p.Arg3888Gly)
c.11542C>G (p.Arg3848Gly)
c.11473C>G (p.Arg3825Gly)
c.9877C>G (p.Arg3293Gly)
6g.51627045G=CA1628469747PKHD1c.11737C= (p.Arg3913=)
c.11608C= (p.Arg3870=)
c.11599C= (p.Arg3867=)
c.11095C= (p.Arg3699=)
c.11026C= (p.Arg3676=)
c.5812C= (p.Arg1938=)
c.11662C= (p.Arg3888=)
c.11542C= (p.Arg3848=)
c.11473C= (p.Arg3825=)
c.9877C= (p.Arg3293=)
6g.51627045G>TCA364418694PKHD1c.11737C>A (p.Arg3913Ser)
c.11608C>A (p.Arg3870Ser)
c.11599C>A (p.Arg3867Ser)
c.11095C>A (p.Arg3699Ser)
c.11026C>A (p.Arg3676Ser)
c.5812C>A (p.Arg1938Ser)
c.11662C>A (p.Arg3888Ser)
c.11542C>A (p.Arg3848Ser)
c.11473C>A (p.Arg3825Ser)
c.9877C>A (p.Arg3293Ser)
6g.51627046T>ACA364418700PKHD1c.11736A>T (p.Lys3912Asn)
c.11607A>T (p.Lys3869Asn)
c.11598A>T (p.Lys3866Asn)
c.11094A>T (p.Lys3698Asn)
c.11025A>T (p.Lys3675Asn)
c.5811A>T (p.Lys1937Asn)
c.11661A>T (p.Lys3887Asn)
c.11541A>T (p.Lys3847Asn)
c.11472A>T (p.Lys3824Asn)
c.9876A>T (p.Lys3292Asn)
6g.51627046T>CCA138875895PKHD1c.11736A>G (p.Lys3912=)
c.11607A>G (p.Lys3869=)
c.11598A>G (p.Lys3866=)
c.11094A>G (p.Lys3698=)
c.11025A>G (p.Lys3675=)
c.5811A>G (p.Lys1937=)
c.11661A>G (p.Lys3887=)
c.11541A>G (p.Lys3847=)
c.11472A>G (p.Lys3824=)
c.9876A>G (p.Lys3292=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51627046T>GCA364418697PKHD1c.11736A>C (p.Lys3912Asn)
c.11607A>C (p.Lys3869Asn)
c.11598A>C (p.Lys3866Asn)
c.11094A>C (p.Lys3698Asn)
c.11025A>C (p.Lys3675Asn)
c.5811A>C (p.Lys1937Asn)
c.11661A>C (p.Lys3887Asn)
c.11541A>C (p.Lys3847Asn)
c.11472A>C (p.Lys3824Asn)
c.9876A>C (p.Lys3292Asn)
6g.51627046T=CA1628469755PKHD1c.11736A= (p.Lys3912=)
c.11607A= (p.Lys3869=)
c.11598A= (p.Lys3866=)
c.11094A= (p.Lys3698=)
c.11025A= (p.Lys3675=)
c.5811A= (p.Lys1937=)
c.11661A= (p.Lys3887=)
c.11541A= (p.Lys3847=)
c.11472A= (p.Lys3824=)
c.9876A= (p.Lys3292=)
6g.51627048dupCA138875892PKHD1c.11736dup (p.Arg3913ThrfsTer?)
c.11607dup (p.Arg3870ThrfsTer?)
c.11598dup (p.Arg3867ThrfsTer?)
c.11094dup (p.Arg3699ThrfsTer?)
c.11025dup (p.Arg3676ThrfsTer?)
c.5811dup (p.Arg1938ThrfsTer?)
c.11661dup (p.Arg3888ThrfsTer?)
c.11541dup (p.Arg3848ThrfsTer?)
c.11472dup (p.Arg3825ThrfsTer?)
c.9876dup (p.Arg3293ThrfsTer?)
 dbSNP
6g.51627047T>ACA364418703PKHD1c.11735A>T (p.Lys3912Ile)
c.11606A>T (p.Lys3869Ile)
c.11597A>T (p.Lys3866Ile)
c.11093A>T (p.Lys3698Ile)
c.11024A>T (p.Lys3675Ile)
c.5810A>T (p.Lys1937Ile)
c.11660A>T (p.Lys3887Ile)
c.11540A>T (p.Lys3847Ile)
c.11471A>T (p.Lys3824Ile)
c.9875A>T (p.Lys3292Ile)
 dbSNP gnomAD v3 gnomAD v4
6g.51627047T>CCA364418705PKHD1c.11735A>G (p.Lys3912Arg)
c.11606A>G (p.Lys3869Arg)
c.11597A>G (p.Lys3866Arg)
c.11093A>G (p.Lys3698Arg)
c.11024A>G (p.Lys3675Arg)
c.5810A>G (p.Lys1937Arg)
c.11660A>G (p.Lys3887Arg)
c.11540A>G (p.Lys3847Arg)
c.11471A>G (p.Lys3824Arg)
c.9875A>G (p.Lys3292Arg)
6g.51627047T>GCA364418708PKHD1c.11735A>C (p.Lys3912Thr)
c.11606A>C (p.Lys3869Thr)
c.11597A>C (p.Lys3866Thr)
c.11093A>C (p.Lys3698Thr)
c.11024A>C (p.Lys3675Thr)
c.5810A>C (p.Lys1937Thr)
c.11660A>C (p.Lys3887Thr)
c.11540A>C (p.Lys3847Thr)
c.11471A>C (p.Lys3824Thr)
c.9875A>C (p.Lys3292Thr)
6g.51627047T=CA1628469761PKHD1c.11735A= (p.Lys3912=)
c.11606A= (p.Lys3869=)
c.11597A= (p.Lys3866=)
c.11093A= (p.Lys3698=)
c.11024A= (p.Lys3675=)
c.5810A= (p.Lys1937=)
c.11660A= (p.Lys3887=)
c.11540A= (p.Lys3847=)
c.11471A= (p.Lys3824=)
c.9875A= (p.Lys3292=)
6g.51627048T>ACA364418711PKHD1c.11734A>T (p.Lys3912Ter)
c.11605A>T (p.Lys3869Ter)
c.11596A>T (p.Lys3866Ter)
c.11092A>T (p.Lys3698Ter)
c.11023A>T (p.Lys3675Ter)
c.5809A>T (p.Lys1937Ter)
c.11659A>T (p.Lys3887Ter)
c.11539A>T (p.Lys3847Ter)
c.11470A>T (p.Lys3824Ter)
c.9874A>T (p.Lys3292Ter)
6g.51627048T>CCA364418714PKHD1c.11734A>G (p.Lys3912Glu)
c.11605A>G (p.Lys3869Glu)
c.11596A>G (p.Lys3866Glu)
c.11092A>G (p.Lys3698Glu)
c.11023A>G (p.Lys3675Glu)
c.5809A>G (p.Lys1937Glu)
c.11659A>G (p.Lys3887Glu)
c.11539A>G (p.Lys3847Glu)
c.11470A>G (p.Lys3824Glu)
c.9874A>G (p.Lys3292Glu)
6g.51627048T>GCA364418717PKHD1c.11734A>C (p.Lys3912Gln)
c.11605A>C (p.Lys3869Gln)
c.11596A>C (p.Lys3866Gln)
c.11092A>C (p.Lys3698Gln)
c.11023A>C (p.Lys3675Gln)
c.5809A>C (p.Lys1937Gln)
c.11659A>C (p.Lys3887Gln)
c.11539A>C (p.Lys3847Gln)
c.11470A>C (p.Lys3824Gln)
c.9874A>C (p.Lys3292Gln)
6g.51627049G>ACA450411533PKHD1c.11733C>T (p.Ser3911=)
c.11604C>T (p.Ser3868=)
c.11595C>T (p.Ser3865=)
c.11091C>T (p.Ser3697=)
c.11022C>T (p.Ser3674=)
c.5808C>T (p.Ser1936=)
c.11658C>T (p.Ser3886=)
c.11538C>T (p.Ser3846=)
c.11469C>T (p.Ser3823=)
c.9873C>T (p.Ser3291=)
6g.51627049G>CCA450411534PKHD1c.11733C>G (p.Ser3911=)
c.11604C>G (p.Ser3868=)
c.11595C>G (p.Ser3865=)
c.11091C>G (p.Ser3697=)
c.11022C>G (p.Ser3674=)
c.5808C>G (p.Ser1936=)
c.11658C>G (p.Ser3886=)
c.11538C>G (p.Ser3846=)
c.11469C>G (p.Ser3823=)
c.9873C>G (p.Ser3291=)
 ClinVar dbSNP
6g.51627049G=CA1628469768PKHD1c.11733C= (p.Ser3911=)
c.11604C= (p.Ser3868=)
c.11595C= (p.Ser3865=)
c.11091C= (p.Ser3697=)
c.11022C= (p.Ser3674=)
c.5808C= (p.Ser1936=)
c.11658C= (p.Ser3886=)
c.11538C= (p.Ser3846=)
c.11469C= (p.Ser3823=)
c.9873C= (p.Ser3291=)
6g.51627049G>TCA450411535PKHD1c.11733C>A (p.Ser3911=)
c.11604C>A (p.Ser3868=)
c.11595C>A (p.Ser3865=)
c.11091C>A (p.Ser3697=)
c.11022C>A (p.Ser3674=)
c.5808C>A (p.Ser1936=)
c.11658C>A (p.Ser3886=)
c.11538C>A (p.Ser3846=)
c.11469C>A (p.Ser3823=)
c.9873C>A (p.Ser3291=)
 COSMIC
6g.51627050G>ACA364418722PKHD1c.11732C>T (p.Ser3911Phe)
c.11603C>T (p.Ser3868Phe)
c.11594C>T (p.Ser3865Phe)
c.11090C>T (p.Ser3697Phe)
c.11021C>T (p.Ser3674Phe)
c.5807C>T (p.Ser1936Phe)
c.11657C>T (p.Ser3886Phe)
c.11537C>T (p.Ser3846Phe)
c.11468C>T (p.Ser3823Phe)
c.9872C>T (p.Ser3291Phe)
 dbSNP
6g.51627050G>CCA364418724PKHD1c.11732C>G (p.Ser3911Cys)
c.11603C>G (p.Ser3868Cys)
c.11594C>G (p.Ser3865Cys)
c.11090C>G (p.Ser3697Cys)
c.11021C>G (p.Ser3674Cys)
c.5807C>G (p.Ser1936Cys)
c.11657C>G (p.Ser3886Cys)
c.11537C>G (p.Ser3846Cys)
c.11468C>G (p.Ser3823Cys)
c.9872C>G (p.Ser3291Cys)
6g.51627050G>TCA364418727PKHD1c.11732C>A (p.Ser3911Tyr)
c.11603C>A (p.Ser3868Tyr)
c.11594C>A (p.Ser3865Tyr)
c.11090C>A (p.Ser3697Tyr)
c.11021C>A (p.Ser3674Tyr)
c.5807C>A (p.Ser1936Tyr)
c.11657C>A (p.Ser3886Tyr)
c.11537C>A (p.Ser3846Tyr)
c.11468C>A (p.Ser3823Tyr)
c.9872C>A (p.Ser3291Tyr)
6g.51627051A>CCA364418729PKHD1c.11731T>G (p.Ser3911Ala)
c.11602T>G (p.Ser3868Ala)
c.11593T>G (p.Ser3865Ala)
c.11089T>G (p.Ser3697Ala)
c.11020T>G (p.Ser3674Ala)
c.5806T>G (p.Ser1936Ala)
c.11656T>G (p.Ser3886Ala)
c.11536T>G (p.Ser3846Ala)
c.11467T>G (p.Ser3823Ala)
c.9871T>G (p.Ser3291Ala)
6g.51627051A>GCA364418731PKHD1c.11731T>C (p.Ser3911Pro)
c.11602T>C (p.Ser3868Pro)
c.11593T>C (p.Ser3865Pro)
c.11089T>C (p.Ser3697Pro)
c.11020T>C (p.Ser3674Pro)
c.5806T>C (p.Ser1936Pro)
c.11656T>C (p.Ser3886Pro)
c.11536T>C (p.Ser3846Pro)
c.11467T>C (p.Ser3823Pro)
c.9871T>C (p.Ser3291Pro)
6g.51627051A>TCA364418733PKHD1c.11731T>A (p.Ser3911Thr)
c.11602T>A (p.Ser3868Thr)
c.11593T>A (p.Ser3865Thr)
c.11089T>A (p.Ser3697Thr)
c.11020T>A (p.Ser3674Thr)
c.5806T>A (p.Ser1936Thr)
c.11656T>A (p.Ser3886Thr)
c.11536T>A (p.Ser3846Thr)
c.11467T>A (p.Ser3823Thr)
c.9871T>A (p.Ser3291Thr)
6g.51627052T>ACA450411536PKHD1c.11730A>T (p.Ser3910=)
c.11601A>T (p.Ser3867=)
c.11592A>T (p.Ser3864=)
c.11088A>T (p.Ser3696=)
c.11019A>T (p.Ser3673=)
c.5805A>T (p.Ser1935=)
c.11655A>T (p.Ser3885=)
c.11535A>T (p.Ser3845=)
c.11466A>T (p.Ser3822=)
c.9870A>T (p.Ser3290=)
 gnomAD v4
6g.51627052T>CCA450411537PKHD1c.11730A>G (p.Ser3910=)
c.11601A>G (p.Ser3867=)
c.11592A>G (p.Ser3864=)
c.11088A>G (p.Ser3696=)
c.11019A>G (p.Ser3673=)
c.5805A>G (p.Ser1935=)
c.11655A>G (p.Ser3885=)
c.11535A>G (p.Ser3845=)
c.11466A>G (p.Ser3822=)
c.9870A>G (p.Ser3290=)
6g.51627052T>GCA3850722PKHD1c.11730A>C (p.Ser3910=)
c.11601A>C (p.Ser3867=)
c.11592A>C (p.Ser3864=)
c.11088A>C (p.Ser3696=)
c.11019A>C (p.Ser3673=)
c.5805A>C (p.Ser1935=)
c.11655A>C (p.Ser3885=)
c.11535A>C (p.Ser3845=)
c.11466A>C (p.Ser3822=)
c.9870A>C (p.Ser3290=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51627052T=CA1628469773PKHD1c.11730A= (p.Ser3910=)
c.11601A= (p.Ser3867=)
c.11592A= (p.Ser3864=)
c.11088A= (p.Ser3696=)
c.11019A= (p.Ser3673=)
c.5805A= (p.Ser1935=)
c.11655A= (p.Ser3885=)
c.11535A= (p.Ser3845=)
c.11466A= (p.Ser3822=)
c.9870A= (p.Ser3290=)
6g.51627053G>ACA364418743PKHD1c.11729C>T (p.Ser3910Leu)
c.11600C>T (p.Ser3867Leu)
c.11591C>T (p.Ser3864Leu)
c.11087C>T (p.Ser3696Leu)
c.11018C>T (p.Ser3673Leu)
c.5804C>T (p.Ser1935Leu)
c.11654C>T (p.Ser3885Leu)
c.11534C>T (p.Ser3845Leu)
c.11465C>T (p.Ser3822Leu)
c.9869C>T (p.Ser3290Leu)
 gnomAD v4
6g.51627053G>CCA364418737PKHD1c.11729C>G (p.Ser3910Ter)
c.11600C>G (p.Ser3867Ter)
c.11591C>G (p.Ser3864Ter)
c.11087C>G (p.Ser3696Ter)
c.11018C>G (p.Ser3673Ter)
c.5804C>G (p.Ser1935Ter)
c.11654C>G (p.Ser3885Ter)
c.11534C>G (p.Ser3845Ter)
c.11465C>G (p.Ser3822Ter)
c.9869C>G (p.Ser3290Ter)
6g.51627053G>TCA364418740PKHD1c.11729C>A (p.Ser3910Ter)
c.11600C>A (p.Ser3867Ter)
c.11591C>A (p.Ser3864Ter)
c.11087C>A (p.Ser3696Ter)
c.11018C>A (p.Ser3673Ter)
c.5804C>A (p.Ser1935Ter)
c.11654C>A (p.Ser3885Ter)
c.11534C>A (p.Ser3845Ter)
c.11465C>A (p.Ser3822Ter)
c.9869C>A (p.Ser3290Ter)
 gnomAD v4
6g.51627054A>CCA364418751PKHD1c.11728T>G (p.Ser3910Ala)
c.11599T>G (p.Ser3867Ala)
c.11590T>G (p.Ser3864Ala)
c.11086T>G (p.Ser3696Ala)
c.11017T>G (p.Ser3673Ala)
c.5803T>G (p.Ser1935Ala)
c.11653T>G (p.Ser3885Ala)
c.11533T>G (p.Ser3845Ala)
c.11464T>G (p.Ser3822Ala)
c.9868T>G (p.Ser3290Ala)
6g.51627054A>GCA364418759PKHD1c.11728T>C (p.Ser3910Pro)
c.11599T>C (p.Ser3867Pro)
c.11590T>C (p.Ser3864Pro)
c.11086T>C (p.Ser3696Pro)
c.11017T>C (p.Ser3673Pro)
c.5803T>C (p.Ser1935Pro)
c.11653T>C (p.Ser3885Pro)
c.11533T>C (p.Ser3845Pro)
c.11464T>C (p.Ser3822Pro)
c.9868T>C (p.Ser3290Pro)
6g.51627054A>TCA364418762PKHD1c.11728T>A (p.Ser3910Thr)
c.11599T>A (p.Ser3867Thr)
c.11590T>A (p.Ser3864Thr)
c.11086T>A (p.Ser3696Thr)
c.11017T>A (p.Ser3673Thr)
c.5803T>A (p.Ser1935Thr)
c.11653T>A (p.Ser3885Thr)
c.11533T>A (p.Ser3845Thr)
c.11464T>A (p.Ser3822Thr)
c.9868T>A (p.Ser3290Thr)
6g.51627055G>ACA450411538PKHD1c.11727C>T (p.Ile3909=)
c.11598C>T (p.Ile3866=)
c.11589C>T (p.Ile3863=)
c.11085C>T (p.Ile3695=)
c.11016C>T (p.Ile3672=)
c.5802C>T (p.Ile1934=)
c.11652C>T (p.Ile3884=)
c.11532C>T (p.Ile3844=)
c.11463C>T (p.Ile3821=)
c.9867C>T (p.Ile3289=)
6g.51627055G>CCA364418768PKHD1c.11727C>G (p.Ile3909Met)
c.11598C>G (p.Ile3866Met)
c.11589C>G (p.Ile3863Met)
c.11085C>G (p.Ile3695Met)
c.11016C>G (p.Ile3672Met)
c.5802C>G (p.Ile1934Met)
c.11652C>G (p.Ile3884Met)
c.11532C>G (p.Ile3844Met)
c.11463C>G (p.Ile3821Met)
c.9867C>G (p.Ile3289Met)
6g.51627055G>TCA450411539PKHD1c.11727C>A (p.Ile3909=)
c.11598C>A (p.Ile3866=)
c.11589C>A (p.Ile3863=)
c.11085C>A (p.Ile3695=)
c.11016C>A (p.Ile3672=)
c.5802C>A (p.Ile1934=)
c.11652C>A (p.Ile3884=)
c.11532C>A (p.Ile3844=)
c.11463C>A (p.Ile3821=)
c.9867C>A (p.Ile3289=)
6g.51627056A>CCA364418778PKHD1c.11726T>G (p.Ile3909Ser)
c.11597T>G (p.Ile3866Ser)
c.11588T>G (p.Ile3863Ser)
c.11084T>G (p.Ile3695Ser)
c.11015T>G (p.Ile3672Ser)
c.5801T>G (p.Ile1934Ser)
c.11651T>G (p.Ile3884Ser)
c.11531T>G (p.Ile3844Ser)
c.11462T>G (p.Ile3821Ser)
c.9866T>G (p.Ile3289Ser)
6g.51627056A>GCA364418775PKHD1c.11726T>C (p.Ile3909Thr)
c.11597T>C (p.Ile3866Thr)
c.11588T>C (p.Ile3863Thr)
c.11084T>C (p.Ile3695Thr)
c.11015T>C (p.Ile3672Thr)
c.5801T>C (p.Ile1934Thr)
c.11651T>C (p.Ile3884Thr)
c.11531T>C (p.Ile3844Thr)
c.11462T>C (p.Ile3821Thr)
c.9866T>C (p.Ile3289Thr)
6g.51627056A>TCA364418777PKHD1c.11726T>A (p.Ile3909Asn)
c.11597T>A (p.Ile3866Asn)
c.11588T>A (p.Ile3863Asn)
c.11084T>A (p.Ile3695Asn)
c.11015T>A (p.Ile3672Asn)
c.5801T>A (p.Ile1934Asn)
c.11651T>A (p.Ile3884Asn)
c.11531T>A (p.Ile3844Asn)
c.11462T>A (p.Ile3821Asn)
c.9866T>A (p.Ile3289Asn)
6g.51627057T>ACA364418781PKHD1c.11725A>T (p.Ile3909Phe)
c.11596A>T (p.Ile3866Phe)
c.11587A>T (p.Ile3863Phe)
c.11083A>T (p.Ile3695Phe)
c.11014A>T (p.Ile3672Phe)
c.5800A>T (p.Ile1934Phe)
c.11650A>T (p.Ile3884Phe)
c.11530A>T (p.Ile3844Phe)
c.11461A>T (p.Ile3821Phe)
c.9865A>T (p.Ile3289Phe)
6g.51627057T>CCA3850723PKHD1c.11725A>G (p.Ile3909Val)
c.11596A>G (p.Ile3866Val)
c.11587A>G (p.Ile3863Val)
c.11083A>G (p.Ile3695Val)
c.11014A>G (p.Ile3672Val)
c.5800A>G (p.Ile1934Val)
c.11650A>G (p.Ile3884Val)
c.11530A>G (p.Ile3844Val)
c.11461A>G (p.Ile3821Val)
c.9865A>G (p.Ile3289Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51627057T>GCA364418783PKHD1c.11725A>C (p.Ile3909Leu)
c.11596A>C (p.Ile3866Leu)
c.11587A>C (p.Ile3863Leu)
c.11083A>C (p.Ile3695Leu)
c.11014A>C (p.Ile3672Leu)
c.5800A>C (p.Ile1934Leu)
c.11650A>C (p.Ile3884Leu)
c.11530A>C (p.Ile3844Leu)
c.11461A>C (p.Ile3821Leu)
c.9865A>C (p.Ile3289Leu)
6g.51627057T=CA1628469784PKHD1c.11725A= (p.Ile3909=)
c.11596A= (p.Ile3866=)
c.11587A= (p.Ile3863=)
c.11083A= (p.Ile3695=)
c.11014A= (p.Ile3672=)
c.5800A= (p.Ile1934=)
c.11650A= (p.Ile3884=)
c.11530A= (p.Ile3844=)
c.11461A= (p.Ile3821=)
c.9865A= (p.Ile3289=)
6g.51627058G>ACA450411540PKHD1c.11724C>T (p.His3908=)
c.11595C>T (p.His3865=)
c.11586C>T (p.His3862=)
c.11082C>T (p.His3694=)
c.11013C>T (p.His3671=)
c.5799C>T (p.His1933=)
c.11649C>T (p.His3883=)
c.11529C>T (p.His3843=)
c.11460C>T (p.His3820=)
c.9864C>T (p.His3288=)
 dbSNP gnomAD v2 gnomAD v4
6g.51627058G>CCA364418784PKHD1c.11724C>G (p.His3908Gln)
c.11595C>G (p.His3865Gln)
c.11586C>G (p.His3862Gln)
c.11082C>G (p.His3694Gln)
c.11013C>G (p.His3671Gln)
c.5799C>G (p.His1933Gln)
c.11649C>G (p.His3883Gln)
c.11529C>G (p.His3843Gln)
c.11460C>G (p.His3820Gln)
c.9864C>G (p.His3288Gln)
6g.51627058G=CA1628469791PKHD1c.11724C= (p.His3908=)
c.11595C= (p.His3865=)
c.11586C= (p.His3862=)
c.11082C= (p.His3694=)
c.11013C= (p.His3671=)
c.5799C= (p.His1933=)
c.11649C= (p.His3883=)
c.11529C= (p.His3843=)
c.11460C= (p.His3820=)
c.9864C= (p.His3288=)
6g.51627058G>TCA364418785PKHD1c.11724C>A (p.His3908Gln)
c.11595C>A (p.His3865Gln)
c.11586C>A (p.His3862Gln)
c.11082C>A (p.His3694Gln)
c.11013C>A (p.His3671Gln)
c.5799C>A (p.His1933Gln)
c.11649C>A (p.His3883Gln)
c.11529C>A (p.His3843Gln)
c.11460C>A (p.His3820Gln)
c.9864C>A (p.His3288Gln)
 gnomAD v4
6g.51627059T>ACA364418788PKHD1c.11723A>T (p.His3908Leu)
c.11594A>T (p.His3865Leu)
c.11585A>T (p.His3862Leu)
c.11081A>T (p.His3694Leu)
c.11012A>T (p.His3671Leu)
c.5798A>T (p.His1933Leu)
c.11648A>T (p.His3883Leu)
c.11528A>T (p.His3843Leu)
c.11459A>T (p.His3820Leu)
c.9863A>T (p.His3288Leu)
6g.51627059T>CCA138875910PKHD1c.11723A>G (p.His3908Arg)
c.11594A>G (p.His3865Arg)
c.11585A>G (p.His3862Arg)
c.11081A>G (p.His3694Arg)
c.11012A>G (p.His3671Arg)
c.5798A>G (p.His1933Arg)
c.11648A>G (p.His3883Arg)
c.11528A>G (p.His3843Arg)
c.11459A>G (p.His3820Arg)
c.9863A>G (p.His3288Arg)
 dbSNP gnomAD v3 gnomAD v4
6g.51627059T>GCA364418787PKHD1c.11723A>C (p.His3908Pro)
c.11594A>C (p.His3865Pro)
c.11585A>C (p.His3862Pro)
c.11081A>C (p.His3694Pro)
c.11012A>C (p.His3671Pro)
c.5798A>C (p.His1933Pro)
c.11648A>C (p.His3883Pro)
c.11528A>C (p.His3843Pro)
c.11459A>C (p.His3820Pro)
c.9863A>C (p.His3288Pro)
6g.51627059T=CA1628469800PKHD1c.11723A= (p.His3908=)
c.11594A= (p.His3865=)
c.11585A= (p.His3862=)
c.11081A= (p.His3694=)
c.11012A= (p.His3671=)
c.5798A= (p.His1933=)
c.11648A= (p.His3883=)
c.11528A= (p.His3843=)
c.11459A= (p.His3820=)
c.9863A= (p.His3288=)
6g.51627060G>ACA364418791PKHD1c.11722C>T (p.His3908Tyr)
c.11593C>T (p.His3865Tyr)
c.11584C>T (p.His3862Tyr)
c.11080C>T (p.His3694Tyr)
c.11011C>T (p.His3671Tyr)
c.5797C>T (p.His1933Tyr)
c.11647C>T (p.His3883Tyr)
c.11527C>T (p.His3843Tyr)
c.11458C>T (p.His3820Tyr)
c.9862C>T (p.His3288Tyr)
 gnomAD v4
6g.51627060G>CCA364418793PKHD1c.11722C>G (p.His3908Asp)
c.11593C>G (p.His3865Asp)
c.11584C>G (p.His3862Asp)
c.11080C>G (p.His3694Asp)
c.11011C>G (p.His3671Asp)
c.5797C>G (p.His1933Asp)
c.11647C>G (p.His3883Asp)
c.11527C>G (p.His3843Asp)
c.11458C>G (p.His3820Asp)
c.9862C>G (p.His3288Asp)
6g.51627060G>TCA364418795PKHD1c.11722C>A (p.His3908Asn)
c.11593C>A (p.His3865Asn)
c.11584C>A (p.His3862Asn)
c.11080C>A (p.His3694Asn)
c.11011C>A (p.His3671Asn)
c.5797C>A (p.His1933Asn)
c.11647C>A (p.His3883Asn)
c.11527C>A (p.His3843Asn)
c.11458C>A (p.His3820Asn)
c.9862C>A (p.His3288Asn)
 gnomAD v4
6g.51627061G>ACA450411542PKHD1c.11721C>T (p.Ile3907=)
c.11592C>T (p.Ile3864=)
c.11583C>T (p.Ile3861=)
c.11079C>T (p.Ile3693=)
c.11010C>T (p.Ile3670=)
c.5796C>T (p.Ile1932=)
c.11646C>T (p.Ile3882=)
c.11526C>T (p.Ile3842=)
c.11457C>T (p.Ile3819=)
c.9861C>T (p.Ile3287=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51627061G>CCA3850724PKHD1c.11721C>G (p.Ile3907Met)
c.11592C>G (p.Ile3864Met)
c.11583C>G (p.Ile3861Met)
c.11079C>G (p.Ile3693Met)
c.11010C>G (p.Ile3670Met)
c.5796C>G (p.Ile1932Met)
c.11646C>G (p.Ile3882Met)
c.11526C>G (p.Ile3842Met)
c.11457C>G (p.Ile3819Met)
c.9861C>G (p.Ile3287Met)
 dbSNP ExAC gnomAD v4
6g.51627061G=CA1628469805PKHD1c.11721C= (p.Ile3907=)
c.11592C= (p.Ile3864=)
c.11583C= (p.Ile3861=)
c.11079C= (p.Ile3693=)
c.11010C= (p.Ile3670=)
c.5796C= (p.Ile1932=)
c.11646C= (p.Ile3882=)
c.11526C= (p.Ile3842=)
c.11457C= (p.Ile3819=)
c.9861C= (p.Ile3287=)
6g.51627061G>TCA450411541PKHD1c.11721C>A (p.Ile3907=)
c.11592C>A (p.Ile3864=)
c.11583C>A (p.Ile3861=)
c.11079C>A (p.Ile3693=)
c.11010C>A (p.Ile3670=)
c.5796C>A (p.Ile1932=)
c.11646C>A (p.Ile3882=)
c.11526C>A (p.Ile3842=)
c.11457C>A (p.Ile3819=)
c.9861C>A (p.Ile3287=)
 gnomAD v4
6g.51627062A>CCA364418798PKHD1c.11720T>G (p.Ile3907Ser)
c.11591T>G (p.Ile3864Ser)
c.11582T>G (p.Ile3861Ser)
c.11078T>G (p.Ile3693Ser)
c.11009T>G (p.Ile3670Ser)
c.5795T>G (p.Ile1932Ser)
c.11645T>G (p.Ile3882Ser)
c.11525T>G (p.Ile3842Ser)
c.11456T>G (p.Ile3819Ser)
c.9860T>G (p.Ile3287Ser)
6g.51627062A>GCA364418800PKHD1c.11720T>C (p.Ile3907Thr)
c.11591T>C (p.Ile3864Thr)
c.11582T>C (p.Ile3861Thr)
c.11078T>C (p.Ile3693Thr)
c.11009T>C (p.Ile3670Thr)
c.5795T>C (p.Ile1932Thr)
c.11645T>C (p.Ile3882Thr)
c.11525T>C (p.Ile3842Thr)
c.11456T>C (p.Ile3819Thr)
c.9860T>C (p.Ile3287Thr)
6g.51627062A>TCA364418802PKHD1c.11720T>A (p.Ile3907Asn)
c.11591T>A (p.Ile3864Asn)
c.11582T>A (p.Ile3861Asn)
c.11078T>A (p.Ile3693Asn)
c.11009T>A (p.Ile3670Asn)
c.5795T>A (p.Ile1932Asn)
c.11645T>A (p.Ile3882Asn)
c.11525T>A (p.Ile3842Asn)
c.11456T>A (p.Ile3819Asn)
c.9860T>A (p.Ile3287Asn)
 gnomAD v4
6g.51627063T>ACA364418809PKHD1c.11719A>T (p.Ile3907Phe)
c.11590A>T (p.Ile3864Phe)
c.11581A>T (p.Ile3861Phe)
c.11077A>T (p.Ile3693Phe)
c.11008A>T (p.Ile3670Phe)
c.5794A>T (p.Ile1932Phe)
c.11644A>T (p.Ile3882Phe)
c.11524A>T (p.Ile3842Phe)
c.11455A>T (p.Ile3819Phe)
c.9859A>T (p.Ile3287Phe)
6g.51627063T>CCA364418812PKHD1c.11719A>G (p.Ile3907Val)
c.11590A>G (p.Ile3864Val)
c.11581A>G (p.Ile3861Val)
c.11077A>G (p.Ile3693Val)
c.11008A>G (p.Ile3670Val)
c.5794A>G (p.Ile1932Val)
c.11644A>G (p.Ile3882Val)
c.11524A>G (p.Ile3842Val)
c.11455A>G (p.Ile3819Val)
c.9859A>G (p.Ile3287Val)
6g.51627063T>GCA364418814PKHD1c.11719A>C (p.Ile3907Leu)
c.11590A>C (p.Ile3864Leu)
c.11581A>C (p.Ile3861Leu)
c.11077A>C (p.Ile3693Leu)
c.11008A>C (p.Ile3670Leu)
c.5794A>C (p.Ile1932Leu)
c.11644A>C (p.Ile3882Leu)
c.11524A>C (p.Ile3842Leu)
c.11455A>C (p.Ile3819Leu)
c.9859A>C (p.Ile3287Leu)
6g.51627064A=CA1628469809PKHD1c.11718T= (p.His3906=)
c.11589T= (p.His3863=)
c.11580T= (p.His3860=)
c.11076T= (p.His3692=)
c.11007T= (p.His3669=)
c.5793T= (p.His1931=)
c.11643T= (p.His3881=)
c.11523T= (p.His3841=)
c.11454T= (p.His3818=)
c.9858T= (p.His3286=)
6g.51627064A>CCA364418816PKHD1c.11718T>G (p.His3906Gln)
c.11589T>G (p.His3863Gln)
c.11580T>G (p.His3860Gln)
c.11076T>G (p.His3692Gln)
c.11007T>G (p.His3669Gln)
c.5793T>G (p.His1931Gln)
c.11643T>G (p.His3881Gln)
c.11523T>G (p.His3841Gln)
c.11454T>G (p.His3818Gln)
c.9858T>G (p.His3286Gln)
6g.51627064A>GCA3850725PKHD1c.11718T>C (p.His3906=)
c.11589T>C (p.His3863=)
c.11580T>C (p.His3860=)
c.11076T>C (p.His3692=)
c.11007T>C (p.His3669=)
c.5793T>C (p.His1931=)
c.11643T>C (p.His3881=)
c.11523T>C (p.His3841=)
c.11454T>C (p.His3818=)
c.9858T>C (p.His3286=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51627064A>TCA364418819PKHD1c.11718T>A (p.His3906Gln)
c.11589T>A (p.His3863Gln)
c.11580T>A (p.His3860Gln)
c.11076T>A (p.His3692Gln)
c.11007T>A (p.His3669Gln)
c.5793T>A (p.His1931Gln)
c.11643T>A (p.His3881Gln)
c.11523T>A (p.His3841Gln)
c.11454T>A (p.His3818Gln)
c.9858T>A (p.His3286Gln)
6g.51627065T>ACA364418822PKHD1c.11717A>T (p.His3906Leu)
c.11588A>T (p.His3863Leu)
c.11579A>T (p.His3860Leu)
c.11075A>T (p.His3692Leu)
c.11006A>T (p.His3669Leu)
c.5792A>T (p.His1931Leu)
c.11642A>T (p.His3881Leu)
c.11522A>T (p.His3841Leu)
c.11453A>T (p.His3818Leu)
c.9857A>T (p.His3286Leu)
6g.51627065T>CCA3850726PKHD1c.11717A>G (p.His3906Arg)
c.11588A>G (p.His3863Arg)
c.11579A>G (p.His3860Arg)
c.11075A>G (p.His3692Arg)
c.11006A>G (p.His3669Arg)
c.5792A>G (p.His1931Arg)
c.11642A>G (p.His3881Arg)
c.11522A>G (p.His3841Arg)
c.11453A>G (p.His3818Arg)
c.9857A>G (p.His3286Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51627065T>GCA364418820PKHD1c.11717A>C (p.His3906Pro)
c.11588A>C (p.His3863Pro)
c.11579A>C (p.His3860Pro)
c.11075A>C (p.His3692Pro)
c.11006A>C (p.His3669Pro)
c.5792A>C (p.His1931Pro)
c.11642A>C (p.His3881Pro)
c.11522A>C (p.His3841Pro)
c.11453A>C (p.His3818Pro)
c.9857A>C (p.His3286Pro)
6g.51627065T=CA1628469813PKHD1c.11717A= (p.His3906=)
c.11588A= (p.His3863=)
c.11579A= (p.His3860=)
c.11075A= (p.His3692=)
c.11006A= (p.His3669=)
c.5792A= (p.His1931=)
c.11642A= (p.His3881=)
c.11522A= (p.His3841=)
c.11453A= (p.His3818=)
c.9857A= (p.His3286=)
6g.51627066G>ACA3850727PKHD1c.11716C>T (p.His3906Tyr)
c.11587C>T (p.His3863Tyr)
c.11578C>T (p.His3860Tyr)
c.11074C>T (p.His3692Tyr)
c.11005C>T (p.His3669Tyr)
c.5791C>T (p.His1931Tyr)
c.11641C>T (p.His3881Tyr)
c.11521C>T (p.His3841Tyr)
c.11452C>T (p.His3818Tyr)
c.9856C>T (p.His3286Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51627066G>CCA364418825PKHD1c.11716C>G (p.His3906Asp)
c.11587C>G (p.His3863Asp)
c.11578C>G (p.His3860Asp)
c.11074C>G (p.His3692Asp)
c.11005C>G (p.His3669Asp)
c.5791C>G (p.His1931Asp)
c.11641C>G (p.His3881Asp)
c.11521C>G (p.His3841Asp)
c.11452C>G (p.His3818Asp)
c.9856C>G (p.His3286Asp)
6g.51627066G=CA1628469824PKHD1c.11716C= (p.His3906=)
c.11587C= (p.His3863=)
c.11578C= (p.His3860=)
c.11074C= (p.His3692=)
c.11005C= (p.His3669=)
c.5791C= (p.His1931=)
c.11641C= (p.His3881=)
c.11521C= (p.His3841=)
c.11452C= (p.His3818=)
c.9856C= (p.His3286=)
6g.51627066G>TCA364418826PKHD1c.11716C>A (p.His3906Asn)
c.11587C>A (p.His3863Asn)
c.11578C>A (p.His3860Asn)
c.11074C>A (p.His3692Asn)
c.11005C>A (p.His3669Asn)
c.5791C>A (p.His1931Asn)
c.11641C>A (p.His3881Asn)
c.11521C>A (p.His3841Asn)
c.11452C>A (p.His3818Asn)
c.9856C>A (p.His3286Asn)
 gnomAD v4
6g.51627067A>CCA364418827PKHD1c.11715T>G (p.Ile3905Met)
c.11586T>G (p.Ile3862Met)
c.11577T>G (p.Ile3859Met)
c.11073T>G (p.Ile3691Met)
c.11004T>G (p.Ile3668Met)
c.5790T>G (p.Ile1930Met)
c.11640T>G (p.Ile3880Met)
c.11520T>G (p.Ile3840Met)
c.11451T>G (p.Ile3817Met)
c.9855T>G (p.Ile3285Met)
6g.51627067A>GCA450411543PKHD1c.11715T>C (p.Ile3905=)
c.11586T>C (p.Ile3862=)
c.11577T>C (p.Ile3859=)
c.11073T>C (p.Ile3691=)
c.11004T>C (p.Ile3668=)
c.5790T>C (p.Ile1930=)
c.11640T>C (p.Ile3880=)
c.11520T>C (p.Ile3840=)
c.11451T>C (p.Ile3817=)
c.9855T>C (p.Ile3285=)
6g.51627067A>TCA450411544PKHD1c.11715T>A (p.Ile3905=)
c.11586T>A (p.Ile3862=)
c.11577T>A (p.Ile3859=)
c.11073T>A (p.Ile3691=)
c.11004T>A (p.Ile3668=)
c.5790T>A (p.Ile1930=)
c.11640T>A (p.Ile3880=)
c.11520T>A (p.Ile3840=)
c.11451T>A (p.Ile3817=)
c.9855T>A (p.Ile3285=)
6g.51627068A=CA1628469831PKHD1c.11714T= (p.Ile3905=)
c.11585T= (p.Ile3862=)
c.11576T= (p.Ile3859=)
c.11072T= (p.Ile3691=)
c.11003T= (p.Ile3668=)
c.5789T= (p.Ile1930=)
c.11639T= (p.Ile3880=)
c.11519T= (p.Ile3840=)
c.11450T= (p.Ile3817=)
c.9854T= (p.Ile3285=)
6g.51627068A>CCA364418830PKHD1c.11714T>G (p.Ile3905Ser)
c.11585T>G (p.Ile3862Ser)
c.11576T>G (p.Ile3859Ser)
c.11072T>G (p.Ile3691Ser)
c.11003T>G (p.Ile3668Ser)
c.5789T>G (p.Ile1930Ser)
c.11639T>G (p.Ile3880Ser)
c.11519T>G (p.Ile3840Ser)
c.11450T>G (p.Ile3817Ser)
c.9854T>G (p.Ile3285Ser)
6g.51627068A>GCA364418831PKHD1c.11714T>C (p.Ile3905Thr)
c.11585T>C (p.Ile3862Thr)
c.11576T>C (p.Ile3859Thr)
c.11072T>C (p.Ile3691Thr)
c.11003T>C (p.Ile3668Thr)
c.5789T>C (p.Ile1930Thr)
c.11639T>C (p.Ile3880Thr)
c.11519T>C (p.Ile3840Thr)
c.11450T>C (p.Ile3817Thr)
c.9854T>C (p.Ile3285Thr)
 gnomAD v4
6g.51627068A>TCA149482PKHD1c.11714T>A (p.Ile3905Asn)
c.11585T>A (p.Ile3862Asn)
c.11576T>A (p.Ile3859Asn)
c.11072T>A (p.Ile3691Asn)
c.11003T>A (p.Ile3668Asn)
c.5789T>A (p.Ile1930Asn)
c.11639T>A (p.Ile3880Asn)
c.11519T>A (p.Ile3840Asn)
c.11450T>A (p.Ile3817Asn)
c.9854T>A (p.Ile3285Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51627069T>ACA364418832PKHD1c.11713A>T (p.Ile3905Phe)
c.11584A>T (p.Ile3862Phe)
c.11575A>T (p.Ile3859Phe)
c.11071A>T (p.Ile3691Phe)
c.11002A>T (p.Ile3668Phe)
c.5788A>T (p.Ile1930Phe)
c.11638A>T (p.Ile3880Phe)
c.11518A>T (p.Ile3840Phe)
c.11449A>T (p.Ile3817Phe)
c.9853A>T (p.Ile3285Phe)
6g.51627069T>CCA364418833PKHD1c.11713A>G (p.Ile3905Val)
c.11584A>G (p.Ile3862Val)
c.11575A>G (p.Ile3859Val)
c.11071A>G (p.Ile3691Val)
c.11002A>G (p.Ile3668Val)
c.5788A>G (p.Ile1930Val)
c.11638A>G (p.Ile3880Val)
c.11518A>G (p.Ile3840Val)
c.11449A>G (p.Ile3817Val)
c.9853A>G (p.Ile3285Val)
6g.51627069T>GCA364418835PKHD1c.11713A>C (p.Ile3905Leu)
c.11584A>C (p.Ile3862Leu)
c.11575A>C (p.Ile3859Leu)
c.11071A>C (p.Ile3691Leu)
c.11002A>C (p.Ile3668Leu)
c.5788A>C (p.Ile1930Leu)
c.11638A>C (p.Ile3880Leu)
c.11518A>C (p.Ile3840Leu)
c.11449A>C (p.Ile3817Leu)
c.9853A>C (p.Ile3285Leu)
 gnomAD v4
6g.51627070A=CA1628469835PKHD1c.11712T= (p.Asn3904=)
c.11583T= (p.Asn3861=)
c.11574T= (p.Asn3858=)
c.11070T= (p.Asn3690=)
c.11001T= (p.Asn3667=)
c.5787T= (p.Asn1929=)
c.11637T= (p.Asn3879=)
c.11517T= (p.Asn3839=)
c.11448T= (p.Asn3816=)
c.9852T= (p.Asn3284=)
6g.51627070A>CCA364418837PKHD1c.11712T>G (p.Asn3904Lys)
c.11583T>G (p.Asn3861Lys)
c.11574T>G (p.Asn3858Lys)
c.11070T>G (p.Asn3690Lys)
c.11001T>G (p.Asn3667Lys)
c.5787T>G (p.Asn1929Lys)
c.11637T>G (p.Asn3879Lys)
c.11517T>G (p.Asn3839Lys)
c.11448T>G (p.Asn3816Lys)
c.9852T>G (p.Asn3284Lys)
6g.51627070A>GCA3850728PKHD1c.11712T>C (p.Asn3904=)
c.11583T>C (p.Asn3861=)
c.11574T>C (p.Asn3858=)
c.11070T>C (p.Asn3690=)
c.11001T>C (p.Asn3667=)
c.5787T>C (p.Asn1929=)
c.11637T>C (p.Asn3879=)
c.11517T>C (p.Asn3839=)
c.11448T>C (p.Asn3816=)
c.9852T>C (p.Asn3284=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51627070A>TCA364418839PKHD1c.11712T>A (p.Asn3904Lys)
c.11583T>A (p.Asn3861Lys)
c.11574T>A (p.Asn3858Lys)
c.11070T>A (p.Asn3690Lys)
c.11001T>A (p.Asn3667Lys)
c.5787T>A (p.Asn1929Lys)
c.11637T>A (p.Asn3879Lys)
c.11517T>A (p.Asn3839Lys)
c.11448T>A (p.Asn3816Lys)
c.9852T>A (p.Asn3284Lys)
 gnomAD v4
6g.51627071T>ACA364418844PKHD1c.11711A>T (p.Asn3904Ile)
c.11582A>T (p.Asn3861Ile)
c.11573A>T (p.Asn3858Ile)
c.11069A>T (p.Asn3690Ile)
c.11000A>T (p.Asn3667Ile)
c.5786A>T (p.Asn1929Ile)
c.11636A>T (p.Asn3879Ile)
c.11516A>T (p.Asn3839Ile)
c.11447A>T (p.Asn3816Ile)
c.9851A>T (p.Asn3284Ile)
6g.51627071T>CCA364418842PKHD1c.11711A>G (p.Asn3904Ser)
c.11582A>G (p.Asn3861Ser)
c.11573A>G (p.Asn3858Ser)
c.11069A>G (p.Asn3690Ser)
c.11000A>G (p.Asn3667Ser)
c.5786A>G (p.Asn1929Ser)
c.11636A>G (p.Asn3879Ser)
c.11516A>G (p.Asn3839Ser)
c.11447A>G (p.Asn3816Ser)
c.9851A>G (p.Asn3284Ser)
 dbSNP gnomAD v4 COSMIC
6g.51627071T>GCA364418840PKHD1c.11711A>C (p.Asn3904Thr)
c.11582A>C (p.Asn3861Thr)
c.11573A>C (p.Asn3858Thr)
c.11069A>C (p.Asn3690Thr)
c.11000A>C (p.Asn3667Thr)
c.5786A>C (p.Asn1929Thr)
c.11636A>C (p.Asn3879Thr)
c.11516A>C (p.Asn3839Thr)
c.11447A>C (p.Asn3816Thr)
c.9851A>C (p.Asn3284Thr)
6g.51627072T>ACA364418845PKHD1c.11710A>T (p.Asn3904Tyr)
c.11581A>T (p.Asn3861Tyr)
c.11572A>T (p.Asn3858Tyr)
c.11068A>T (p.Asn3690Tyr)
c.10999A>T (p.Asn3667Tyr)
c.5785A>T (p.Asn1929Tyr)
c.11635A>T (p.Asn3879Tyr)
c.11515A>T (p.Asn3839Tyr)
c.11446A>T (p.Asn3816Tyr)
c.9850A>T (p.Asn3284Tyr)
6g.51627072T>CCA364418846PKHD1c.11710A>G (p.Asn3904Asp)
c.11581A>G (p.Asn3861Asp)
c.11572A>G (p.Asn3858Asp)
c.11068A>G (p.Asn3690Asp)
c.10999A>G (p.Asn3667Asp)
c.5785A>G (p.Asn1929Asp)
c.11635A>G (p.Asn3879Asp)
c.11515A>G (p.Asn3839Asp)
c.11446A>G (p.Asn3816Asp)
c.9850A>G (p.Asn3284Asp)
 dbSNP gnomAD v4
6g.51627072T>GCA364418847PKHD1c.11710A>C (p.Asn3904His)
c.11581A>C (p.Asn3861His)
c.11572A>C (p.Asn3858His)
c.11068A>C (p.Asn3690His)
c.10999A>C (p.Asn3667His)
c.5785A>C (p.Asn1929His)
c.11635A>C (p.Asn3879His)
c.11515A>C (p.Asn3839His)
c.11446A>C (p.Asn3816His)
c.9850A>C (p.Asn3284His)
6g.51627072T=CA1628469843PKHD1c.11710A= (p.Asn3904=)
c.11581A= (p.Asn3861=)
c.11572A= (p.Asn3858=)
c.11068A= (p.Asn3690=)
c.10999A= (p.Asn3667=)
c.5785A= (p.Asn1929=)
c.11635A= (p.Asn3879=)
c.11515A= (p.Asn3839=)
c.11446A= (p.Asn3816=)
c.9850A= (p.Asn3284=)
6g.51627073T>ACA364418849PKHD1c.11709A>T (p.Gln3903His)
c.11580A>T (p.Gln3860His)
c.11571A>T (p.Gln3857His)
c.11067A>T (p.Gln3689His)
c.10998A>T (p.Gln3666His)
c.5784A>T (p.Gln1928His)
c.11634A>T (p.Gln3878His)
c.11514A>T (p.Gln3838His)
c.11445A>T (p.Gln3815His)
c.9849A>T (p.Gln3283His)
6g.51627073T>CCA450411545PKHD1c.11709A>G (p.Gln3903=)
c.11580A>G (p.Gln3860=)
c.11571A>G (p.Gln3857=)
c.11067A>G (p.Gln3689=)
c.10998A>G (p.Gln3666=)
c.5784A>G (p.Gln1928=)
c.11634A>G (p.Gln3878=)
c.11514A>G (p.Gln3838=)
c.11445A>G (p.Gln3815=)
c.9849A>G (p.Gln3283=)
 ClinVar dbSNP
6g.51627073T>GCA364418850PKHD1c.11709A>C (p.Gln3903His)
c.11580A>C (p.Gln3860His)
c.11571A>C (p.Gln3857His)
c.11067A>C (p.Gln3689His)
c.10998A>C (p.Gln3666His)
c.5784A>C (p.Gln1928His)
c.11634A>C (p.Gln3878His)
c.11514A>C (p.Gln3838His)
c.11445A>C (p.Gln3815His)
c.9849A>C (p.Gln3283His)
 dbSNP
6g.51627073T=CA1628469847PKHD1c.11709A= (p.Gln3903=)
c.11580A= (p.Gln3860=)
c.11571A= (p.Gln3857=)
c.11067A= (p.Gln3689=)
c.10998A= (p.Gln3666=)
c.5784A= (p.Gln1928=)
c.11634A= (p.Gln3878=)
c.11514A= (p.Gln3838=)
c.11445A= (p.Gln3815=)
c.9849A= (p.Gln3283=)
6g.51627074T>ACA364418851PKHD1c.11708A>T (p.Gln3903Leu)
c.11579A>T (p.Gln3860Leu)
c.11570A>T (p.Gln3857Leu)
c.11066A>T (p.Gln3689Leu)
c.10997A>T (p.Gln3666Leu)
c.5783A>T (p.Gln1928Leu)
c.11633A>T (p.Gln3878Leu)
c.11513A>T (p.Gln3838Leu)
c.11444A>T (p.Gln3815Leu)
c.9848A>T (p.Gln3283Leu)
6g.51627074T>CCA364418852PKHD1c.11708A>G (p.Gln3903Arg)
c.11579A>G (p.Gln3860Arg)
c.11570A>G (p.Gln3857Arg)
c.11066A>G (p.Gln3689Arg)
c.10997A>G (p.Gln3666Arg)
c.5783A>G (p.Gln1928Arg)
c.11633A>G (p.Gln3878Arg)
c.11513A>G (p.Gln3838Arg)
c.11444A>G (p.Gln3815Arg)
c.9848A>G (p.Gln3283Arg)
6g.51627074T>GCA364418854PKHD1c.11708A>C (p.Gln3903Pro)
c.11579A>C (p.Gln3860Pro)
c.11570A>C (p.Gln3857Pro)
c.11066A>C (p.Gln3689Pro)
c.10997A>C (p.Gln3666Pro)
c.5783A>C (p.Gln1928Pro)
c.11633A>C (p.Gln3878Pro)
c.11513A>C (p.Gln3838Pro)
c.11444A>C (p.Gln3815Pro)
c.9848A>C (p.Gln3283Pro)
6g.51627075G>ACA364418857PKHD1c.11707C>T (p.Gln3903Ter)
c.11578C>T (p.Gln3860Ter)
c.11569C>T (p.Gln3857Ter)
c.11065C>T (p.Gln3689Ter)
c.10996C>T (p.Gln3666Ter)
c.5782C>T (p.Gln1928Ter)
c.11632C>T (p.Gln3878Ter)
c.11512C>T (p.Gln3838Ter)
c.11443C>T (p.Gln3815Ter)
c.9847C>T (p.Gln3283Ter)
6g.51627075G>CCA364418858PKHD1c.11707C>G (p.Gln3903Glu)
c.11578C>G (p.Gln3860Glu)
c.11569C>G (p.Gln3857Glu)
c.11065C>G (p.Gln3689Glu)
c.10996C>G (p.Gln3666Glu)
c.5782C>G (p.Gln1928Glu)
c.11632C>G (p.Gln3878Glu)
c.11512C>G (p.Gln3838Glu)
c.11443C>G (p.Gln3815Glu)
c.9847C>G (p.Gln3283Glu)
 gnomAD v4
6g.51627075G>TCA364418859PKHD1c.11707C>A (p.Gln3903Lys)
c.11578C>A (p.Gln3860Lys)
c.11569C>A (p.Gln3857Lys)
c.11065C>A (p.Gln3689Lys)
c.10996C>A (p.Gln3666Lys)
c.5782C>A (p.Gln1928Lys)
c.11632C>A (p.Gln3878Lys)
c.11512C>A (p.Gln3838Lys)
c.11443C>A (p.Gln3815Lys)
c.9847C>A (p.Gln3283Lys)
 gnomAD v4
6g.51627076A>CCA364418862PKHD1c.11706T>G (p.Asn3902Lys)
c.11577T>G (p.Asn3859Lys)
c.11568T>G (p.Asn3856Lys)
c.11064T>G (p.Asn3688Lys)
c.10995T>G (p.Asn3665Lys)
c.5781T>G (p.Asn1927Lys)
c.11631T>G (p.Asn3877Lys)
c.11511T>G (p.Asn3837Lys)
c.11442T>G (p.Asn3814Lys)
c.9846T>G (p.Asn3282Lys)
6g.51627076A>GCA450411546PKHD1c.11706T>C (p.Asn3902=)
c.11577T>C (p.Asn3859=)
c.11568T>C (p.Asn3856=)
c.11064T>C (p.Asn3688=)
c.10995T>C (p.Asn3665=)
c.5781T>C (p.Asn1927=)
c.11631T>C (p.Asn3877=)
c.11511T>C (p.Asn3837=)
c.11442T>C (p.Asn3814=)
c.9846T>C (p.Asn3282=)
6g.51627076A>TCA364418864PKHD1c.11706T>A (p.Asn3902Lys)
c.11577T>A (p.Asn3859Lys)
c.11568T>A (p.Asn3856Lys)
c.11064T>A (p.Asn3688Lys)
c.10995T>A (p.Asn3665Lys)
c.5781T>A (p.Asn1927Lys)
c.11631T>A (p.Asn3877Lys)
c.11511T>A (p.Asn3837Lys)
c.11442T>A (p.Asn3814Lys)
c.9846T>A (p.Asn3282Lys)
6g.51627077T>ACA3850729PKHD1c.11705A>T (p.Asn3902Ile)
c.11576A>T (p.Asn3859Ile)
c.11567A>T (p.Asn3856Ile)
c.11063A>T (p.Asn3688Ile)
c.10994A>T (p.Asn3665Ile)
c.5780A>T (p.Asn1927Ile)
c.11630A>T (p.Asn3877Ile)
c.11510A>T (p.Asn3837Ile)
c.11441A>T (p.Asn3814Ile)
c.9845A>T (p.Asn3282Ile)
 dbSNP ExAC
6g.51627077T>CCA364418868PKHD1c.11705A>G (p.Asn3902Ser)
c.11576A>G (p.Asn3859Ser)
c.11567A>G (p.Asn3856Ser)
c.11063A>G (p.Asn3688Ser)
c.10994A>G (p.Asn3665Ser)
c.5780A>G (p.Asn1927Ser)
c.11630A>G (p.Asn3877Ser)
c.11510A>G (p.Asn3837Ser)
c.11441A>G (p.Asn3814Ser)
c.9845A>G (p.Asn3282Ser)
6g.51627077T>GCA364418866PKHD1c.11705A>C (p.Asn3902Thr)
c.11576A>C (p.Asn3859Thr)
c.11567A>C (p.Asn3856Thr)
c.11063A>C (p.Asn3688Thr)
c.10994A>C (p.Asn3665Thr)
c.5780A>C (p.Asn1927Thr)
c.11630A>C (p.Asn3877Thr)
c.11510A>C (p.Asn3837Thr)
c.11441A>C (p.Asn3814Thr)
c.9845A>C (p.Asn3282Thr)
6g.51627077T=CA1628469850PKHD1c.11705A= (p.Asn3902=)
c.11576A= (p.Asn3859=)
c.11567A= (p.Asn3856=)
c.11063A= (p.Asn3688=)
c.10994A= (p.Asn3665=)
c.5780A= (p.Asn1927=)
c.11630A= (p.Asn3877=)
c.11510A= (p.Asn3837=)
c.11441A= (p.Asn3814=)
c.9845A= (p.Asn3282=)
6g.51627078T>ACA364418869PKHD1c.11704A>T (p.Asn3902Tyr)
c.11575A>T (p.Asn3859Tyr)
c.11566A>T (p.Asn3856Tyr)
c.11062A>T (p.Asn3688Tyr)
c.10993A>T (p.Asn3665Tyr)
c.5779A>T (p.Asn1927Tyr)
c.11629A>T (p.Asn3877Tyr)
c.11509A>T (p.Asn3837Tyr)
c.11440A>T (p.Asn3814Tyr)
c.9844A>T (p.Asn3282Tyr)
6g.51627078T>CCA364418870PKHD1c.11704A>G (p.Asn3902Asp)
c.11575A>G (p.Asn3859Asp)
c.11566A>G (p.Asn3856Asp)
c.11062A>G (p.Asn3688Asp)
c.10993A>G (p.Asn3665Asp)
c.5779A>G (p.Asn1927Asp)
c.11629A>G (p.Asn3877Asp)
c.11509A>G (p.Asn3837Asp)
c.11440A>G (p.Asn3814Asp)
c.9844A>G (p.Asn3282Asp)
6g.51627078T>GCA138875945PKHD1c.11704A>C (p.Asn3902His)
c.11575A>C (p.Asn3859His)
c.11566A>C (p.Asn3856His)
c.11062A>C (p.Asn3688His)
c.10993A>C (p.Asn3665His)
c.5779A>C (p.Asn1927His)
c.11629A>C (p.Asn3877His)
c.11509A>C (p.Asn3837His)
c.11440A>C (p.Asn3814His)
c.9844A>C (p.Asn3282His)
 dbSNP gnomAD v4
6g.51627078T=CA1628469860PKHD1c.11704A= (p.Asn3902=)
c.11575A= (p.Asn3859=)
c.11566A= (p.Asn3856=)
c.11062A= (p.Asn3688=)
c.10993A= (p.Asn3665=)
c.5779A= (p.Asn1927=)
c.11629A= (p.Asn3877=)
c.11509A= (p.Asn3837=)
c.11440A= (p.Asn3814=)
c.9844A= (p.Asn3282=)
6g.51627079A=CA1628469863PKHD1c.11703T= (p.Asn3901=)
c.11574T= (p.Asn3858=)
c.11565T= (p.Asn3855=)
c.11061T= (p.Asn3687=)
c.10992T= (p.Asn3664=)
c.5778T= (p.Asn1926=)
c.11628T= (p.Asn3876=)
c.11508T= (p.Asn3836=)
c.11439T= (p.Asn3813=)
c.9843T= (p.Asn3281=)
6g.51627079A>CCA364418873PKHD1c.11703T>G (p.Asn3901Lys)
c.11574T>G (p.Asn3858Lys)
c.11565T>G (p.Asn3855Lys)
c.11061T>G (p.Asn3687Lys)
c.10992T>G (p.Asn3664Lys)
c.5778T>G (p.Asn1926Lys)
c.11628T>G (p.Asn3876Lys)
c.11508T>G (p.Asn3836Lys)
c.11439T>G (p.Asn3813Lys)
c.9843T>G (p.Asn3281Lys)
6g.51627079A>GCA450411547PKHD1c.11703T>C (p.Asn3901=)
c.11574T>C (p.Asn3858=)
c.11565T>C (p.Asn3855=)
c.11061T>C (p.Asn3687=)
c.10992T>C (p.Asn3664=)
c.5778T>C (p.Asn1926=)
c.11628T>C (p.Asn3876=)
c.11508T>C (p.Asn3836=)
c.11439T>C (p.Asn3813=)
c.9843T>C (p.Asn3281=)
 gnomAD v4
6g.51627079A>TCA3850730PKHD1c.11703T>A (p.Asn3901Lys)
c.11574T>A (p.Asn3858Lys)
c.11565T>A (p.Asn3855Lys)
c.11061T>A (p.Asn3687Lys)
c.10992T>A (p.Asn3664Lys)
c.5778T>A (p.Asn1926Lys)
c.11628T>A (p.Asn3876Lys)
c.11508T>A (p.Asn3836Lys)
c.11439T>A (p.Asn3813Lys)
c.9843T>A (p.Asn3281Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51627080T>ACA3850731PKHD1c.11702A>T (p.Asn3901Ile)
c.11573A>T (p.Asn3858Ile)
c.11564A>T (p.Asn3855Ile)
c.11060A>T (p.Asn3687Ile)
c.10991A>T (p.Asn3664Ile)
c.5777A>T (p.Asn1926Ile)
c.11627A>T (p.Asn3876Ile)
c.11507A>T (p.Asn3836Ile)
c.11438A>T (p.Asn3813Ile)
c.9842A>T (p.Asn3281Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51627080T>CCA364418879PKHD1c.11702A>G (p.Asn3901Ser)
c.11573A>G (p.Asn3858Ser)
c.11564A>G (p.Asn3855Ser)
c.11060A>G (p.Asn3687Ser)
c.10991A>G (p.Asn3664Ser)
c.5777A>G (p.Asn1926Ser)
c.11627A>G (p.Asn3876Ser)
c.11507A>G (p.Asn3836Ser)
c.11438A>G (p.Asn3813Ser)
c.9842A>G (p.Asn3281Ser)
6g.51627080T>GCA364418876PKHD1c.11702A>C (p.Asn3901Thr)
c.11573A>C (p.Asn3858Thr)
c.11564A>C (p.Asn3855Thr)
c.11060A>C (p.Asn3687Thr)
c.10991A>C (p.Asn3664Thr)
c.5777A>C (p.Asn1926Thr)
c.11627A>C (p.Asn3876Thr)
c.11507A>C (p.Asn3836Thr)
c.11438A>C (p.Asn3813Thr)
c.9842A>C (p.Asn3281Thr)
6g.51627080T=CA1628469869PKHD1c.11702A= (p.Asn3901=)
c.11573A= (p.Asn3858=)
c.11564A= (p.Asn3855=)
c.11060A= (p.Asn3687=)
c.10991A= (p.Asn3664=)
c.5777A= (p.Asn1926=)
c.11627A= (p.Asn3876=)
c.11507A= (p.Asn3836=)
c.11438A= (p.Asn3813=)
c.9842A= (p.Asn3281=)
6g.51627081T>ACA364418882PKHD1c.11701A>T (p.Asn3901Tyr)
c.11572A>T (p.Asn3858Tyr)
c.11563A>T (p.Asn3855Tyr)
c.11059A>T (p.Asn3687Tyr)
c.10990A>T (p.Asn3664Tyr)
c.5776A>T (p.Asn1926Tyr)
c.11626A>T (p.Asn3876Tyr)
c.11506A>T (p.Asn3836Tyr)
c.11437A>T (p.Asn3813Tyr)
c.9841A>T (p.Asn3281Tyr)
6g.51627081T>CCA364418884PKHD1c.11701A>G (p.Asn3901Asp)
c.11572A>G (p.Asn3858Asp)
c.11563A>G (p.Asn3855Asp)
c.11059A>G (p.Asn3687Asp)
c.10990A>G (p.Asn3664Asp)
c.5776A>G (p.Asn1926Asp)
c.11626A>G (p.Asn3876Asp)
c.11506A>G (p.Asn3836Asp)
c.11437A>G (p.Asn3813Asp)
c.9841A>G (p.Asn3281Asp)
 gnomAD v3 gnomAD v4
6g.51627081T>GCA364418885PKHD1c.11701A>C (p.Asn3901His)
c.11572A>C (p.Asn3858His)
c.11563A>C (p.Asn3855His)
c.11059A>C (p.Asn3687His)
c.10990A>C (p.Asn3664His)
c.5776A>C (p.Asn1926His)
c.11626A>C (p.Asn3876His)
c.11506A>C (p.Asn3836His)
c.11437A>C (p.Asn3813His)
c.9841A>C (p.Asn3281His)
6g.51627082A>CCA450411548PKHD1c.11700T>G (p.Thr3900=)
c.11571T>G (p.Thr3857=)
c.11562T>G (p.Thr3854=)
c.11058T>G (p.Thr3686=)
c.10989T>G (p.Thr3663=)
c.5775T>G (p.Thr1925=)
c.11625T>G (p.Thr3875=)
c.11505T>G (p.Thr3835=)
c.11436T>G (p.Thr3812=)
c.9840T>G (p.Thr3280=)
6g.51627082A>GCA450411550PKHD1c.11700T>C (p.Thr3900=)
c.11571T>C (p.Thr3857=)
c.11562T>C (p.Thr3854=)
c.11058T>C (p.Thr3686=)
c.10989T>C (p.Thr3663=)
c.5775T>C (p.Thr1925=)
c.11625T>C (p.Thr3875=)
c.11505T>C (p.Thr3835=)
c.11436T>C (p.Thr3812=)
c.9840T>C (p.Thr3280=)
6g.51627082A>TCA450411549PKHD1c.11700T>A (p.Thr3900=)
c.11571T>A (p.Thr3857=)
c.11562T>A (p.Thr3854=)
c.11058T>A (p.Thr3686=)
c.10989T>A (p.Thr3663=)
c.5775T>A (p.Thr1925=)
c.11625T>A (p.Thr3875=)
c.11505T>A (p.Thr3835=)
c.11436T>A (p.Thr3812=)
c.9840T>A (p.Thr3280=)
 COSMIC
6g.51627083G>ACA364418888PKHD1c.11699C>T (p.Thr3900Ile)
c.11570C>T (p.Thr3857Ile)
c.11561C>T (p.Thr3854Ile)
c.11057C>T (p.Thr3686Ile)
c.10988C>T (p.Thr3663Ile)
c.5774C>T (p.Thr1925Ile)
c.11624C>T (p.Thr3875Ile)
c.11504C>T (p.Thr3835Ile)
c.11435C>T (p.Thr3812Ile)
c.9839C>T (p.Thr3280Ile)
 dbSNP gnomAD v4
6g.51627083G>CCA364418890PKHD1c.11699C>G (p.Thr3900Ser)
c.11570C>G (p.Thr3857Ser)
c.11561C>G (p.Thr3854Ser)
c.11057C>G (p.Thr3686Ser)
c.10988C>G (p.Thr3663Ser)
c.5774C>G (p.Thr1925Ser)
c.11624C>G (p.Thr3875Ser)
c.11504C>G (p.Thr3835Ser)
c.11435C>G (p.Thr3812Ser)
c.9839C>G (p.Thr3280Ser)
6g.51627083G=CA1628469877PKHD1c.11699C= (p.Thr3900=)
c.11570C= (p.Thr3857=)
c.11561C= (p.Thr3854=)
c.11057C= (p.Thr3686=)
c.10988C= (p.Thr3663=)
c.5774C= (p.Thr1925=)
c.11624C= (p.Thr3875=)
c.11504C= (p.Thr3835=)
c.11435C= (p.Thr3812=)
c.9839C= (p.Thr3280=)
6g.51627083G>TCA3850732PKHD1c.11699C>A (p.Thr3900Asn)
c.11570C>A (p.Thr3857Asn)
c.11561C>A (p.Thr3854Asn)
c.11057C>A (p.Thr3686Asn)
c.10988C>A (p.Thr3663Asn)
c.5774C>A (p.Thr1925Asn)
c.11624C>A (p.Thr3875Asn)
c.11504C>A (p.Thr3835Asn)
c.11435C>A (p.Thr3812Asn)
c.9839C>A (p.Thr3280Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51627084T>ACA3850733PKHD1c.11698A>T (p.Thr3900Ser)
c.11569A>T (p.Thr3857Ser)
c.11560A>T (p.Thr3854Ser)
c.11056A>T (p.Thr3686Ser)
c.10987A>T (p.Thr3663Ser)
c.5773A>T (p.Thr1925Ser)
c.11623A>T (p.Thr3875Ser)
c.11503A>T (p.Thr3835Ser)
c.11434A>T (p.Thr3812Ser)
c.9838A>T (p.Thr3280Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51627084T>CCA364418894PKHD1c.11698A>G (p.Thr3900Ala)
c.11569A>G (p.Thr3857Ala)
c.11560A>G (p.Thr3854Ala)
c.11056A>G (p.Thr3686Ala)
c.10987A>G (p.Thr3663Ala)
c.5773A>G (p.Thr1925Ala)
c.11623A>G (p.Thr3875Ala)
c.11503A>G (p.Thr3835Ala)
c.11434A>G (p.Thr3812Ala)
c.9838A>G (p.Thr3280Ala)
 gnomAD v4
6g.51627084T>GCA364418896PKHD1c.11698A>C (p.Thr3900Pro)
c.11569A>C (p.Thr3857Pro)
c.11560A>C (p.Thr3854Pro)
c.11056A>C (p.Thr3686Pro)
c.10987A>C (p.Thr3663Pro)
c.5773A>C (p.Thr1925Pro)
c.11623A>C (p.Thr3875Pro)
c.11503A>C (p.Thr3835Pro)
c.11434A>C (p.Thr3812Pro)
c.9838A>C (p.Thr3280Pro)
6g.51627084T=CA1628469883PKHD1c.11698A= (p.Thr3900=)
c.11569A= (p.Thr3857=)
c.11560A= (p.Thr3854=)
c.11056A= (p.Thr3686=)
c.10987A= (p.Thr3663=)
c.5773A= (p.Thr1925=)
c.11623A= (p.Thr3875=)
c.11503A= (p.Thr3835=)
c.11434A= (p.Thr3812=)
c.9838A= (p.Thr3280=)
6g.51627085C>ACA364418898PKHD1c.11697G>T (p.Gln3899His)
c.11568G>T (p.Gln3856His)
c.11559G>T (p.Gln3853His)
c.11055G>T (p.Gln3685His)
c.10986G>T (p.Gln3662His)
c.5772G>T (p.Gln1924His)
c.11622G>T (p.Gln3874His)
c.11502G>T (p.Gln3834His)
c.11433G>T (p.Gln3811His)
c.9837G>T (p.Gln3279His)
6g.51627085C=CA1628469890PKHD1c.11697G= (p.Gln3899=)
c.11568G= (p.Gln3856=)
c.11559G= (p.Gln3853=)
c.11055G= (p.Gln3685=)
c.10986G= (p.Gln3662=)
c.5772G= (p.Gln1924=)
c.11622G= (p.Gln3874=)
c.11502G= (p.Gln3834=)
c.11433G= (p.Gln3811=)
c.9837G= (p.Gln3279=)
6g.51627085C>GCA364418900PKHD1c.11697G>C (p.Gln3899His)
c.11568G>C (p.Gln3856His)
c.11559G>C (p.Gln3853His)
c.11055G>C (p.Gln3685His)
c.10986G>C (p.Gln3662His)
c.5772G>C (p.Gln1924His)
c.11622G>C (p.Gln3874His)
c.11502G>C (p.Gln3834His)
c.11433G>C (p.Gln3811His)
c.9837G>C (p.Gln3279His)
6g.51627085C>TCA450411551PKHD1c.11697G>A (p.Gln3899=)
c.11568G>A (p.Gln3856=)
c.11559G>A (p.Gln3853=)
c.11055G>A (p.Gln3685=)
c.10986G>A (p.Gln3662=)
c.5772G>A (p.Gln1924=)
c.11622G>A (p.Gln3874=)
c.11502G>A (p.Gln3834=)
c.11433G>A (p.Gln3811=)
c.9837G>A (p.Gln3279=)
 ClinVar dbSNP gnomAD v4
6g.51627086T>ACA364418901PKHD1c.11696A>T (p.Gln3899Leu)
c.11567A>T (p.Gln3856Leu)
c.11558A>T (p.Gln3853Leu)
c.11054A>T (p.Gln3685Leu)
c.10985A>T (p.Gln3662Leu)
c.5771A>T (p.Gln1924Leu)
c.11621A>T (p.Gln3874Leu)
c.11501A>T (p.Gln3834Leu)
c.11432A>T (p.Gln3811Leu)
c.9836A>T (p.Gln3279Leu)
6g.51627086T>CCA149480PKHD1c.11696A>G (p.Gln3899Arg)
c.11567A>G (p.Gln3856Arg)
c.11558A>G (p.Gln3853Arg)
c.11054A>G (p.Gln3685Arg)
c.10985A>G (p.Gln3662Arg)
c.5771A>G (p.Gln1924Arg)
c.11621A>G (p.Gln3874Arg)
c.11501A>G (p.Gln3834Arg)
c.11432A>G (p.Gln3811Arg)
c.9836A>G (p.Gln3279Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51627086T>GCA364418903PKHD1c.11696A>C (p.Gln3899Pro)
c.11567A>C (p.Gln3856Pro)
c.11558A>C (p.Gln3853Pro)
c.11054A>C (p.Gln3685Pro)
c.10985A>C (p.Gln3662Pro)
c.5771A>C (p.Gln1924Pro)
c.11621A>C (p.Gln3874Pro)
c.11501A>C (p.Gln3834Pro)
c.11432A>C (p.Gln3811Pro)
c.9836A>C (p.Gln3279Pro)
6g.51627086T=CA1628469894PKHD1c.11696A= (p.Gln3899=)
c.11567A= (p.Gln3856=)
c.11558A= (p.Gln3853=)
c.11054A= (p.Gln3685=)
c.10985A= (p.Gln3662=)
c.5771A= (p.Gln1924=)
c.11621A= (p.Gln3874=)
c.11501A= (p.Gln3834=)
c.11432A= (p.Gln3811=)
c.9836A= (p.Gln3279=)
6g.51627086_51627087delinsCACA2695198846PKHD1c.11695_11696delinsTG (p.Gln3899Trp)
c.11566_11567delinsTG (p.Gln3856Trp)
c.11557_11558delinsTG (p.Gln3853Trp)
c.11053_11054delinsTG (p.Gln3685Trp)
c.10984_10985delinsTG (p.Gln3662Trp)
c.5770_5771delinsTG (p.Gln1924Trp)
c.11620_11621delinsTG (p.Gln3874Trp)
c.11500_11501delinsTG (p.Gln3834Trp)
c.11431_11432delinsTG (p.Gln3811Trp)
c.9835_9836delinsTG (p.Gln3279Trp)
 ClinVar
6g.51627087G>ACA364418904PKHD1c.11695C>T (p.Gln3899Ter)
c.11566C>T (p.Gln3856Ter)
c.11557C>T (p.Gln3853Ter)
c.11053C>T (p.Gln3685Ter)
c.10984C>T (p.Gln3662Ter)
c.5770C>T (p.Gln1924Ter)
c.11620C>T (p.Gln3874Ter)
c.11500C>T (p.Gln3834Ter)
c.11431C>T (p.Gln3811Ter)
c.9835C>T (p.Gln3279Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51627087G>CCA364418905PKHD1c.11695C>G (p.Gln3899Glu)
c.11566C>G (p.Gln3856Glu)
c.11557C>G (p.Gln3853Glu)
c.11053C>G (p.Gln3685Glu)
c.10984C>G (p.Gln3662Glu)
c.5770C>G (p.Gln1924Glu)
c.11620C>G (p.Gln3874Glu)
c.11500C>G (p.Gln3834Glu)
c.11431C>G (p.Gln3811Glu)
c.9835C>G (p.Gln3279Glu)
6g.51627087G=CA1628469902PKHD1c.11695C= (p.Gln3899=)
c.11566C= (p.Gln3856=)
c.11557C= (p.Gln3853=)
c.11053C= (p.Gln3685=)
c.10984C= (p.Gln3662=)
c.5770C= (p.Gln1924=)
c.11620C= (p.Gln3874=)
c.11500C= (p.Gln3834=)
c.11431C= (p.Gln3811=)
c.9835C= (p.Gln3279=)
6g.51627087G>TCA364418907PKHD1c.11695C>A (p.Gln3899Lys)
c.11566C>A (p.Gln3856Lys)
c.11557C>A (p.Gln3853Lys)
c.11053C>A (p.Gln3685Lys)
c.10984C>A (p.Gln3662Lys)
c.5770C>A (p.Gln1924Lys)
c.11620C>A (p.Gln3874Lys)
c.11500C>A (p.Gln3834Lys)
c.11431C>A (p.Gln3811Lys)
c.9835C>A (p.Gln3279Lys)
 gnomAD v4
6g.51627088G>ACA450411552PKHD1c.11694C>T (p.Ser3898=)
c.11565C>T (p.Ser3855=)
c.11556C>T (p.Ser3852=)
c.11052C>T (p.Ser3684=)
c.10983C>T (p.Ser3661=)
c.5769C>T (p.Ser1923=)
c.11619C>T (p.Ser3873=)
c.11499C>T (p.Ser3833=)
c.11430C>T (p.Ser3810=)
c.9834C>T (p.Ser3278=)
 dbSNP gnomAD v3 gnomAD v4
6g.51627088G>CCA3850734PKHD1c.11694C>G (p.Ser3898=)
c.11565C>G (p.Ser3855=)
c.11556C>G (p.Ser3852=)
c.11052C>G (p.Ser3684=)
c.10983C>G (p.Ser3661=)
c.5769C>G (p.Ser1923=)
c.11619C>G (p.Ser3873=)
c.11499C>G (p.Ser3833=)
c.11430C>G (p.Ser3810=)
c.9834C>G (p.Ser3278=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51627088G=CA1628469907PKHD1c.11694C= (p.Ser3898=)
c.11565C= (p.Ser3855=)
c.11556C= (p.Ser3852=)
c.11052C= (p.Ser3684=)
c.10983C= (p.Ser3661=)
c.5769C= (p.Ser1923=)
c.11619C= (p.Ser3873=)
c.11499C= (p.Ser3833=)
c.11430C= (p.Ser3810=)
c.9834C= (p.Ser3278=)
6g.51627088G>TCA450411553PKHD1c.11694C>A (p.Ser3898=)
c.11565C>A (p.Ser3855=)
c.11556C>A (p.Ser3852=)
c.11052C>A (p.Ser3684=)
c.10983C>A (p.Ser3661=)
c.5769C>A (p.Ser1923=)
c.11619C>A (p.Ser3873=)
c.11499C>A (p.Ser3833=)
c.11430C>A (p.Ser3810=)
c.9834C>A (p.Ser3278=)
6g.51627089G>ACA364418911PKHD1c.11693C>T (p.Ser3898Phe)
c.11564C>T (p.Ser3855Phe)
c.11555C>T (p.Ser3852Phe)
c.11051C>T (p.Ser3684Phe)
c.10982C>T (p.Ser3661Phe)
c.5768C>T (p.Ser1923Phe)
c.11618C>T (p.Ser3873Phe)
c.11498C>T (p.Ser3833Phe)
c.11429C>T (p.Ser3810Phe)
c.9833C>T (p.Ser3278Phe)
6g.51627089G>CCA364418913PKHD1c.11693C>G (p.Ser3898Cys)
c.11564C>G (p.Ser3855Cys)
c.11555C>G (p.Ser3852Cys)
c.11051C>G (p.Ser3684Cys)
c.10982C>G (p.Ser3661Cys)
c.5768C>G (p.Ser1923Cys)
c.11618C>G (p.Ser3873Cys)
c.11498C>G (p.Ser3833Cys)
c.11429C>G (p.Ser3810Cys)
c.9833C>G (p.Ser3278Cys)
6g.51627089G>TCA364418914PKHD1c.11693C>A (p.Ser3898Tyr)
c.11564C>A (p.Ser3855Tyr)
c.11555C>A (p.Ser3852Tyr)
c.11051C>A (p.Ser3684Tyr)
c.10982C>A (p.Ser3661Tyr)
c.5768C>A (p.Ser1923Tyr)
c.11618C>A (p.Ser3873Tyr)
c.11498C>A (p.Ser3833Tyr)
c.11429C>A (p.Ser3810Tyr)
c.9833C>A (p.Ser3278Tyr)
6g.51627090A=CA1628469910PKHD1c.11692T= (p.Ser3898=)
c.11563T= (p.Ser3855=)
c.11554T= (p.Ser3852=)
c.11050T= (p.Ser3684=)
c.10981T= (p.Ser3661=)
c.5767T= (p.Ser1923=)
c.11617T= (p.Ser3873=)
c.11497T= (p.Ser3833=)
c.11428T= (p.Ser3810=)
c.9832T= (p.Ser3278=)
6g.51627090A>CCA364418916PKHD1c.11692T>G (p.Ser3898Ala)
c.11563T>G (p.Ser3855Ala)
c.11554T>G (p.Ser3852Ala)
c.11050T>G (p.Ser3684Ala)
c.10981T>G (p.Ser3661Ala)
c.5767T>G (p.Ser1923Ala)
c.11617T>G (p.Ser3873Ala)
c.11497T>G (p.Ser3833Ala)
c.11428T>G (p.Ser3810Ala)
c.9832T>G (p.Ser3278Ala)
6g.51627090A>GCA364418919PKHD1c.11692T>C (p.Ser3898Pro)
c.11563T>C (p.Ser3855Pro)
c.11554T>C (p.Ser3852Pro)
c.11050T>C (p.Ser3684Pro)
c.10981T>C (p.Ser3661Pro)
c.5767T>C (p.Ser1923Pro)
c.11617T>C (p.Ser3873Pro)
c.11497T>C (p.Ser3833Pro)
c.11428T>C (p.Ser3810Pro)
c.9832T>C (p.Ser3278Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51627090A>TCA364418918PKHD1c.11692T>A (p.Ser3898Thr)
c.11563T>A (p.Ser3855Thr)
c.11554T>A (p.Ser3852Thr)
c.11050T>A (p.Ser3684Thr)
c.10981T>A (p.Ser3661Thr)
c.5767T>A (p.Ser1923Thr)
c.11617T>A (p.Ser3873Thr)
c.11497T>A (p.Ser3833Thr)
c.11428T>A (p.Ser3810Thr)
c.9832T>A (p.Ser3278Thr)
6g.51627091T>ACA364418921PKHD1c.11691A>T (p.Glu3897Asp)
c.11562A>T (p.Glu3854Asp)
c.11553A>T (p.Glu3851Asp)
c.11049A>T (p.Glu3683Asp)
c.10980A>T (p.Glu3660Asp)
c.5766A>T (p.Glu1922Asp)
c.11616A>T (p.Glu3872Asp)
c.11496A>T (p.Glu3832Asp)
c.11427A>T (p.Glu3809Asp)
c.9831A>T (p.Glu3277Asp)
6g.51627091T>CCA450411554PKHD1c.11691A>G (p.Glu3897=)
c.11562A>G (p.Glu3854=)
c.11553A>G (p.Glu3851=)
c.11049A>G (p.Glu3683=)
c.10980A>G (p.Glu3660=)
c.5766A>G (p.Glu1922=)
c.11616A>G (p.Glu3872=)
c.11496A>G (p.Glu3832=)
c.11427A>G (p.Glu3809=)
c.9831A>G (p.Glu3277=)
 ClinVar dbSNP gnomAD v4
6g.51627091T>GCA364418922PKHD1c.11691A>C (p.Glu3897Asp)
c.11562A>C (p.Glu3854Asp)
c.11553A>C (p.Glu3851Asp)
c.11049A>C (p.Glu3683Asp)
c.10980A>C (p.Glu3660Asp)
c.5766A>C (p.Glu1922Asp)
c.11616A>C (p.Glu3872Asp)
c.11496A>C (p.Glu3832Asp)
c.11427A>C (p.Glu3809Asp)
c.9831A>C (p.Glu3277Asp)
6g.51627091T=CA1628469913PKHD1c.11691A= (p.Glu3897=)
c.11562A= (p.Glu3854=)
c.11553A= (p.Glu3851=)
c.11049A= (p.Glu3683=)
c.10980A= (p.Glu3660=)
c.5766A= (p.Glu1922=)
c.11616A= (p.Glu3872=)
c.11496A= (p.Glu3832=)
c.11427A= (p.Glu3809=)
c.9831A= (p.Glu3277=)
6g.51627092T>ACA364418924PKHD1c.11690A>T (p.Glu3897Val)
c.11561A>T (p.Glu3854Val)
c.11552A>T (p.Glu3851Val)
c.11048A>T (p.Glu3683Val)
c.10979A>T (p.Glu3660Val)
c.5765A>T (p.Glu1922Val)
c.11615A>T (p.Glu3872Val)
c.11495A>T (p.Glu3832Val)
c.11426A>T (p.Glu3809Val)
c.9830A>T (p.Glu3277Val)
6g.51627092T>CCA364418926PKHD1c.11690A>G (p.Glu3897Gly)
c.11561A>G (p.Glu3854Gly)
c.11552A>G (p.Glu3851Gly)
c.11048A>G (p.Glu3683Gly)
c.10979A>G (p.Glu3660Gly)
c.5765A>G (p.Glu1922Gly)
c.11615A>G (p.Glu3872Gly)
c.11495A>G (p.Glu3832Gly)
c.11426A>G (p.Glu3809Gly)
c.9830A>G (p.Glu3277Gly)
6g.51627092T>GCA364418927PKHD1c.11690A>C (p.Glu3897Ala)
c.11561A>C (p.Glu3854Ala)
c.11552A>C (p.Glu3851Ala)
c.11048A>C (p.Glu3683Ala)
c.10979A>C (p.Glu3660Ala)
c.5765A>C (p.Glu1922Ala)
c.11615A>C (p.Glu3872Ala)
c.11495A>C (p.Glu3832Ala)
c.11426A>C (p.Glu3809Ala)
c.9830A>C (p.Glu3277Ala)
6g.51627093C>ACA364418930PKHD1c.11689G>T (p.Glu3897Ter)
c.11560G>T (p.Glu3854Ter)
c.11551G>T (p.Glu3851Ter)
c.11047G>T (p.Glu3683Ter)
c.10978G>T (p.Glu3660Ter)
c.5764G>T (p.Glu1922Ter)
c.11614G>T (p.Glu3872Ter)
c.11494G>T (p.Glu3832Ter)
c.11425G>T (p.Glu3809Ter)
c.9829G>T (p.Glu3277Ter)
6g.51627093C=CA1628469921PKHD1c.11689G= (p.Glu3897=)
c.11560G= (p.Glu3854=)
c.11551G= (p.Glu3851=)
c.11047G= (p.Glu3683=)
c.10978G= (p.Glu3660=)
c.5764G= (p.Glu1922=)
c.11614G= (p.Glu3872=)
c.11494G= (p.Glu3832=)
c.11425G= (p.Glu3809=)
c.9829G= (p.Glu3277=)
6g.51627093C>GCA3850735PKHD1c.11689G>C (p.Glu3897Gln)
c.11560G>C (p.Glu3854Gln)
c.11551G>C (p.Glu3851Gln)
c.11047G>C (p.Glu3683Gln)
c.10978G>C (p.Glu3660Gln)
c.5764G>C (p.Glu1922Gln)
c.11614G>C (p.Glu3872Gln)
c.11494G>C (p.Glu3832Gln)
c.11425G>C (p.Glu3809Gln)
c.9829G>C (p.Glu3277Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51627093C>TCA364418932PKHD1c.11689G>A (p.Glu3897Lys)
c.11560G>A (p.Glu3854Lys)
c.11551G>A (p.Glu3851Lys)
c.11047G>A (p.Glu3683Lys)
c.10978G>A (p.Glu3660Lys)
c.5764G>A (p.Glu1922Lys)
c.11614G>A (p.Glu3872Lys)
c.11494G>A (p.Glu3832Lys)
c.11425G>A (p.Glu3809Lys)
c.9829G>A (p.Glu3277Lys)
6g.51627094A=CA1628469928PKHD1c.11688T= (p.Pro3896=)
c.11559T= (p.Pro3853=)
c.11550T= (p.Pro3850=)
c.11046T= (p.Pro3682=)
c.10977T= (p.Pro3659=)
c.5763T= (p.Pro1921=)
c.11613T= (p.Pro3871=)
c.11493T= (p.Pro3831=)
c.11424T= (p.Pro3808=)
c.9828T= (p.Pro3276=)
6g.51627094A>CCA450411556PKHD1c.11688T>G (p.Pro3896=)
c.11559T>G (p.Pro3853=)
c.11550T>G (p.Pro3850=)
c.11046T>G (p.Pro3682=)
c.10977T>G (p.Pro3659=)
c.5763T>G (p.Pro1921=)
c.11613T>G (p.Pro3871=)
c.11493T>G (p.Pro3831=)
c.11424T>G (p.Pro3808=)
c.9828T>G (p.Pro3276=)
6g.51627094A>GCA3850736PKHD1c.11688T>C (p.Pro3896=)
c.11559T>C (p.Pro3853=)
c.11550T>C (p.Pro3850=)
c.11046T>C (p.Pro3682=)
c.10977T>C (p.Pro3659=)
c.5763T>C (p.Pro1921=)
c.11613T>C (p.Pro3871=)
c.11493T>C (p.Pro3831=)
c.11424T>C (p.Pro3808=)
c.9828T>C (p.Pro3276=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51627094A>TCA450411557PKHD1c.11688T>A (p.Pro3896=)
c.11559T>A (p.Pro3853=)
c.11550T>A (p.Pro3850=)
c.11046T>A (p.Pro3682=)
c.10977T>A (p.Pro3659=)
c.5763T>A (p.Pro1921=)
c.11613T>A (p.Pro3871=)
c.11493T>A (p.Pro3831=)
c.11424T>A (p.Pro3808=)
c.9828T>A (p.Pro3276=)
6g.51627095G>ACA364418934PKHD1c.11687C>T (p.Pro3896Leu)
c.11558C>T (p.Pro3853Leu)
c.11549C>T (p.Pro3850Leu)
c.11045C>T (p.Pro3682Leu)
c.10976C>T (p.Pro3659Leu)
c.5762C>T (p.Pro1921Leu)
c.11612C>T (p.Pro3871Leu)
c.11492C>T (p.Pro3831Leu)
c.11423C>T (p.Pro3808Leu)
c.9827C>T (p.Pro3276Leu)
6g.51627095G>CCA364418935PKHD1c.11687C>G (p.Pro3896Arg)
c.11558C>G (p.Pro3853Arg)
c.11549C>G (p.Pro3850Arg)
c.11045C>G (p.Pro3682Arg)
c.10976C>G (p.Pro3659Arg)
c.5762C>G (p.Pro1921Arg)
c.11612C>G (p.Pro3871Arg)
c.11492C>G (p.Pro3831Arg)
c.11423C>G (p.Pro3808Arg)
c.9827C>G (p.Pro3276Arg)
6g.51627095G>TCA364418937PKHD1c.11687C>A (p.Pro3896His)
c.11558C>A (p.Pro3853His)
c.11549C>A (p.Pro3850His)
c.11045C>A (p.Pro3682His)
c.10976C>A (p.Pro3659His)
c.5762C>A (p.Pro1921His)
c.11612C>A (p.Pro3871His)
c.11492C>A (p.Pro3831His)
c.11423C>A (p.Pro3808His)
c.9827C>A (p.Pro3276His)
6g.51627096G>ACA364418942PKHD1c.11686C>T (p.Pro3896Ser)
c.11557C>T (p.Pro3853Ser)
c.11548C>T (p.Pro3850Ser)
c.11044C>T (p.Pro3682Ser)
c.10975C>T (p.Pro3659Ser)
c.5761C>T (p.Pro1921Ser)
c.11611C>T (p.Pro3871Ser)
c.11491C>T (p.Pro3831Ser)
c.11422C>T (p.Pro3808Ser)
c.9826C>T (p.Pro3276Ser)
 gnomAD v4
6g.51627096G>CCA364418939PKHD1c.11686C>G (p.Pro3896Ala)
c.11557C>G (p.Pro3853Ala)
c.11548C>G (p.Pro3850Ala)
c.11044C>G (p.Pro3682Ala)
c.10975C>G (p.Pro3659Ala)
c.5761C>G (p.Pro1921Ala)
c.11611C>G (p.Pro3871Ala)
c.11491C>G (p.Pro3831Ala)
c.11422C>G (p.Pro3808Ala)
c.9826C>G (p.Pro3276Ala)
6g.51627096G>TCA364418941PKHD1c.11686C>A (p.Pro3896Thr)
c.11557C>A (p.Pro3853Thr)
c.11548C>A (p.Pro3850Thr)
c.11044C>A (p.Pro3682Thr)
c.10975C>A (p.Pro3659Thr)
c.5761C>A (p.Pro1921Thr)
c.11611C>A (p.Pro3871Thr)
c.11491C>A (p.Pro3831Thr)
c.11422C>A (p.Pro3808Thr)
c.9826C>A (p.Pro3276Thr)
 COSMIC
6g.51627096_51627097delinsGACA1628469932PKHD1c.11685_11686delinsTC (p.Ile3895=)
c.11556_11557delinsTC (p.Ile3852=)
c.11547_11548delinsTC (p.Ile3849=)
c.11043_11044delinsTC (p.Ile3681=)
c.10974_10975delinsTC (p.Ile3658=)
c.5760_5761delinsTC (p.Ile1920=)
c.11610_11611delinsTC (p.Ile3870=)
c.11490_11491delinsTC (p.Ile3830=)
c.11421_11422delinsTC (p.Ile3807=)
c.9825_9826delinsTC (p.Ile3275=)
6g.51627097A>CCA364418944PKHD1c.11685T>G (p.Ile3895Met)
c.11556T>G (p.Ile3852Met)
c.11547T>G (p.Ile3849Met)
c.11043T>G (p.Ile3681Met)
c.10974T>G (p.Ile3658Met)
c.5760T>G (p.Ile1920Met)
c.11610T>G (p.Ile3870Met)
c.11490T>G (p.Ile3830Met)
c.11421T>G (p.Ile3807Met)
c.9825T>G (p.Ile3275Met)
6g.51627097A>GCA450411558PKHD1c.11685T>C (p.Ile3895=)
c.11556T>C (p.Ile3852=)
c.11547T>C (p.Ile3849=)
c.11043T>C (p.Ile3681=)
c.10974T>C (p.Ile3658=)
c.5760T>C (p.Ile1920=)
c.11610T>C (p.Ile3870=)
c.11490T>C (p.Ile3830=)
c.11421T>C (p.Ile3807=)
c.9825T>C (p.Ile3275=)
6g.51627097A>TCA450411559PKHD1c.11685T>A (p.Ile3895=)
c.11556T>A (p.Ile3852=)
c.11547T>A (p.Ile3849=)
c.11043T>A (p.Ile3681=)
c.10974T>A (p.Ile3658=)
c.5760T>A (p.Ile1920=)
c.11610T>A (p.Ile3870=)
c.11490T>A (p.Ile3830=)
c.11421T>A (p.Ile3807=)
c.9825T>A (p.Ile3275=)
6g.51627098delCA825711046PKHD1c.11685del (p.Pro3896LeufsTer?)
c.11556del (p.Pro3853LeufsTer?)
c.11547del (p.Pro3850LeufsTer?)
c.11043del (p.Pro3682LeufsTer?)
c.10974del (p.Pro3659LeufsTer?)
c.5760del (p.Pro1921LeufsTer?)
c.11610del (p.Pro3871LeufsTer?)
c.11490del (p.Pro3831LeufsTer?)
c.11421del (p.Pro3808LeufsTer?)
c.9825del (p.Pro3276LeufsTer?)
 ClinVar dbSNP
6g.51627098A>CCA364418946PKHD1c.11684T>G (p.Ile3895Ser)
c.11555T>G (p.Ile3852Ser)
c.11546T>G (p.Ile3849Ser)
c.11042T>G (p.Ile3681Ser)
c.10973T>G (p.Ile3658Ser)
c.5759T>G (p.Ile1920Ser)
c.11609T>G (p.Ile3870Ser)
c.11489T>G (p.Ile3830Ser)
c.11420T>G (p.Ile3807Ser)
c.9824T>G (p.Ile3275Ser)
6g.51627098A>GCA364418947PKHD1c.11684T>C (p.Ile3895Thr)
c.11555T>C (p.Ile3852Thr)
c.11546T>C (p.Ile3849Thr)
c.11042T>C (p.Ile3681Thr)
c.10973T>C (p.Ile3658Thr)
c.5759T>C (p.Ile1920Thr)
c.11609T>C (p.Ile3870Thr)
c.11489T>C (p.Ile3830Thr)
c.11420T>C (p.Ile3807Thr)
c.9824T>C (p.Ile3275Thr)
6g.51627098A>TCA364418948PKHD1c.11684T>A (p.Ile3895Asn)
c.11555T>A (p.Ile3852Asn)
c.11546T>A (p.Ile3849Asn)
c.11042T>A (p.Ile3681Asn)
c.10973T>A (p.Ile3658Asn)
c.5759T>A (p.Ile1920Asn)
c.11609T>A (p.Ile3870Asn)
c.11489T>A (p.Ile3830Asn)
c.11420T>A (p.Ile3807Asn)
c.9824T>A (p.Ile3275Asn)
6g.51627099T>ACA364418949PKHD1c.11683A>T (p.Ile3895Phe)
c.11554A>T (p.Ile3852Phe)
c.11545A>T (p.Ile3849Phe)
c.11041A>T (p.Ile3681Phe)
c.10972A>T (p.Ile3658Phe)
c.5758A>T (p.Ile1920Phe)
c.11608A>T (p.Ile3870Phe)
c.11488A>T (p.Ile3830Phe)
c.11419A>T (p.Ile3807Phe)
c.9823A>T (p.Ile3275Phe)
6g.51627099T>CCA364418952PKHD1c.11683A>G (p.Ile3895Val)
c.11554A>G (p.Ile3852Val)
c.11545A>G (p.Ile3849Val)
c.11041A>G (p.Ile3681Val)
c.10972A>G (p.Ile3658Val)
c.5758A>G (p.Ile1920Val)
c.11608A>G (p.Ile3870Val)
c.11488A>G (p.Ile3830Val)
c.11419A>G (p.Ile3807Val)
c.9823A>G (p.Ile3275Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51627099T>GCA364418954PKHD1c.11683A>C (p.Ile3895Leu)
c.11554A>C (p.Ile3852Leu)
c.11545A>C (p.Ile3849Leu)
c.11041A>C (p.Ile3681Leu)
c.10972A>C (p.Ile3658Leu)
c.5758A>C (p.Ile1920Leu)
c.11608A>C (p.Ile3870Leu)
c.11488A>C (p.Ile3830Leu)
c.11419A>C (p.Ile3807Leu)
c.9823A>C (p.Ile3275Leu)
6g.51627099T=CA1628469936PKHD1c.11683A= (p.Ile3895=)
c.11554A= (p.Ile3852=)
c.11545A= (p.Ile3849=)
c.11041A= (p.Ile3681=)
c.10972A= (p.Ile3658=)
c.5758A= (p.Ile1920=)
c.11608A= (p.Ile3870=)
c.11488A= (p.Ile3830=)
c.11419A= (p.Ile3807=)
c.9823A= (p.Ile3275=)
6g.51627100C>ACA364418957PKHD1c.11682G>T (p.Glu3894Asp)
c.11553G>T (p.Glu3851Asp)
c.11544G>T (p.Glu3848Asp)
c.11040G>T (p.Glu3680Asp)
c.10971G>T (p.Glu3657Asp)
c.5757G>T (p.Glu1919Asp)
c.11607G>T (p.Glu3869Asp)
c.11487G>T (p.Glu3829Asp)
c.11418G>T (p.Glu3806Asp)
c.9822G>T (p.Glu3274Asp)
6g.51627100C>GCA364418958PKHD1c.11682G>C (p.Glu3894Asp)
c.11553G>C (p.Glu3851Asp)
c.11544G>C (p.Glu3848Asp)
c.11040G>C (p.Glu3680Asp)
c.10971G>C (p.Glu3657Asp)
c.5757G>C (p.Glu1919Asp)
c.11607G>C (p.Glu3869Asp)
c.11487G>C (p.Glu3829Asp)
c.11418G>C (p.Glu3806Asp)
c.9822G>C (p.Glu3274Asp)
6g.51627100C>TCA450411560PKHD1c.11682G>A (p.Glu3894=)
c.11553G>A (p.Glu3851=)
c.11544G>A (p.Glu3848=)
c.11040G>A (p.Glu3680=)
c.10971G>A (p.Glu3657=)
c.5757G>A (p.Glu1919=)
c.11607G>A (p.Glu3869=)
c.11487G>A (p.Glu3829=)
c.11418G>A (p.Glu3806=)
c.9822G>A (p.Glu3274=)
6g.51627101delCA2578644384PKHD1c.11681del (p.Glu3894GlyfsTer?)
c.11552del (p.Glu3851GlyfsTer?)
c.11543del (p.Glu3848GlyfsTer?)
c.11039del (p.Glu3680GlyfsTer?)
c.10970del (p.Glu3657GlyfsTer?)
c.5756del (p.Glu1919GlyfsTer?)
c.11606del (p.Glu3869GlyfsTer?)
c.11486del (p.Glu3829GlyfsTer?)
c.11417del (p.Glu3806GlyfsTer?)
c.9821del (p.Glu3274GlyfsTer?)
6g.51627101T>ACA364418961PKHD1c.11681A>T (p.Glu3894Val)
c.11552A>T (p.Glu3851Val)
c.11543A>T (p.Glu3848Val)
c.11039A>T (p.Glu3680Val)
c.10970A>T (p.Glu3657Val)
c.5756A>T (p.Glu1919Val)
c.11606A>T (p.Glu3869Val)
c.11486A>T (p.Glu3829Val)
c.11417A>T (p.Glu3806Val)
c.9821A>T (p.Glu3274Val)
6g.51627101T>CCA364418962PKHD1c.11681A>G (p.Glu3894Gly)
c.11552A>G (p.Glu3851Gly)
c.11543A>G (p.Glu3848Gly)
c.11039A>G (p.Glu3680Gly)
c.10970A>G (p.Glu3657Gly)
c.5756A>G (p.Glu1919Gly)
c.11606A>G (p.Glu3869Gly)
c.11486A>G (p.Glu3829Gly)
c.11417A>G (p.Glu3806Gly)
c.9821A>G (p.Glu3274Gly)
6g.51627101T>GCA364418964PKHD1c.11681A>C (p.Glu3894Ala)
c.11552A>C (p.Glu3851Ala)
c.11543A>C (p.Glu3848Ala)
c.11039A>C (p.Glu3680Ala)
c.10970A>C (p.Glu3657Ala)
c.5756A>C (p.Glu1919Ala)
c.11606A>C (p.Glu3869Ala)
c.11486A>C (p.Glu3829Ala)
c.11417A>C (p.Glu3806Ala)
c.9821A>C (p.Glu3274Ala)
6g.51627102C>ACA364418967PKHD1c.11680G>T (p.Glu3894Ter)
c.11551G>T (p.Glu3851Ter)
c.11542G>T (p.Glu3848Ter)
c.11038G>T (p.Glu3680Ter)
c.10969G>T (p.Glu3657Ter)
c.5755G>T (p.Glu1919Ter)
c.11605G>T (p.Glu3869Ter)
c.11485G>T (p.Glu3829Ter)
c.11416G>T (p.Glu3806Ter)
c.9820G>T (p.Glu3274Ter)
6g.51627102C=CA1628469942PKHD1c.11680G= (p.Glu3894=)
c.11551G= (p.Glu3851=)
c.11542G= (p.Glu3848=)
c.11038G= (p.Glu3680=)
c.10969G= (p.Glu3657=)
c.5755G= (p.Glu1919=)
c.11605G= (p.Glu3869=)
c.11485G= (p.Glu3829=)
c.11416G= (p.Glu3806=)
c.9820G= (p.Glu3274=)
6g.51627102C>GCA364418969PKHD1c.11680G>C (p.Glu3894Gln)
c.11551G>C (p.Glu3851Gln)
c.11542G>C (p.Glu3848Gln)
c.11038G>C (p.Glu3680Gln)
c.10969G>C (p.Glu3657Gln)
c.5755G>C (p.Glu1919Gln)
c.11605G>C (p.Glu3869Gln)
c.11485G>C (p.Glu3829Gln)
c.11416G>C (p.Glu3806Gln)
c.9820G>C (p.Glu3274Gln)
6g.51627102C>TCA3850737PKHD1c.11680G>A (p.Glu3894Lys)
c.11551G>A (p.Glu3851Lys)
c.11542G>A (p.Glu3848Lys)
c.11038G>A (p.Glu3680Lys)
c.10969G>A (p.Glu3657Lys)
c.5755G>A (p.Glu1919Lys)
c.11605G>A (p.Glu3869Lys)
c.11485G>A (p.Glu3829Lys)
c.11416G>A (p.Glu3806Lys)
c.9820G>A (p.Glu3274Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51627103T>ACA364418970PKHD1c.11679A>T (p.Glu3893Asp)
c.11550A>T (p.Glu3850Asp)
c.11541A>T (p.Glu3847Asp)
c.11037A>T (p.Glu3679Asp)
c.10968A>T (p.Glu3656Asp)
c.5754A>T (p.Glu1918Asp)
c.11604A>T (p.Glu3868Asp)
c.11484A>T (p.Glu3828Asp)
c.11415A>T (p.Glu3805Asp)
c.9819A>T (p.Glu3273Asp)
6g.51627103T>CCA450411561PKHD1c.11679A>G (p.Glu3893=)
c.11550A>G (p.Glu3850=)
c.11541A>G (p.Glu3847=)
c.11037A>G (p.Glu3679=)
c.10968A>G (p.Glu3656=)
c.5754A>G (p.Glu1918=)
c.11604A>G (p.Glu3868=)
c.11484A>G (p.Glu3828=)
c.11415A>G (p.Glu3805=)
c.9819A>G (p.Glu3273=)
 dbSNP gnomAD v4
6g.51627103T>GCA364418973PKHD1c.11679A>C (p.Glu3893Asp)
c.11550A>C (p.Glu3850Asp)
c.11541A>C (p.Glu3847Asp)
c.11037A>C (p.Glu3679Asp)
c.10968A>C (p.Glu3656Asp)
c.5754A>C (p.Glu1918Asp)
c.11604A>C (p.Glu3868Asp)
c.11484A>C (p.Glu3828Asp)
c.11415A>C (p.Glu3805Asp)
c.9819A>C (p.Glu3273Asp)
 gnomAD v4
6g.51627103T=CA1628469945PKHD1c.11679A= (p.Glu3893=)
c.11550A= (p.Glu3850=)
c.11541A= (p.Glu3847=)
c.11037A= (p.Glu3679=)
c.10968A= (p.Glu3656=)
c.5754A= (p.Glu1918=)
c.11604A= (p.Glu3868=)
c.11484A= (p.Glu3828=)
c.11415A= (p.Glu3805=)
c.9819A= (p.Glu3273=)
6g.51627104T>ACA364418974PKHD1c.11678A>T (p.Glu3893Val)
c.11549A>T (p.Glu3850Val)
c.11540A>T (p.Glu3847Val)
c.11036A>T (p.Glu3679Val)
c.10967A>T (p.Glu3656Val)
c.5753A>T (p.Glu1918Val)
c.11603A>T (p.Glu3868Val)
c.11483A>T (p.Glu3828Val)
c.11414A>T (p.Glu3805Val)
c.9818A>T (p.Glu3273Val)
6g.51627104T>CCA364418977PKHD1c.11678A>G (p.Glu3893Gly)
c.11549A>G (p.Glu3850Gly)
c.11540A>G (p.Glu3847Gly)
c.11036A>G (p.Glu3679Gly)
c.10967A>G (p.Glu3656Gly)
c.5753A>G (p.Glu1918Gly)
c.11603A>G (p.Glu3868Gly)
c.11483A>G (p.Glu3828Gly)
c.11414A>G (p.Glu3805Gly)
c.9818A>G (p.Glu3273Gly)
6g.51627104T>GCA364418975PKHD1c.11678A>C (p.Glu3893Ala)
c.11549A>C (p.Glu3850Ala)
c.11540A>C (p.Glu3847Ala)
c.11036A>C (p.Glu3679Ala)
c.10967A>C (p.Glu3656Ala)
c.5753A>C (p.Glu1918Ala)
c.11603A>C (p.Glu3868Ala)
c.11483A>C (p.Glu3828Ala)
c.11414A>C (p.Glu3805Ala)
c.9818A>C (p.Glu3273Ala)
6g.51627105C>ACA364418979PKHD1c.11677G>T (p.Glu3893Ter)
c.11548G>T (p.Glu3850Ter)
c.11539G>T (p.Glu3847Ter)
c.11035G>T (p.Glu3679Ter)
c.10966G>T (p.Glu3656Ter)
c.5752G>T (p.Glu1918Ter)
c.11602G>T (p.Glu3868Ter)
c.11482G>T (p.Glu3828Ter)
c.11413G>T (p.Glu3805Ter)
c.9817G>T (p.Glu3273Ter)
6g.51627105C=CA1628469949PKHD1c.11677G= (p.Glu3893=)
c.11548G= (p.Glu3850=)
c.11539G= (p.Glu3847=)
c.11035G= (p.Glu3679=)
c.10966G= (p.Glu3656=)
c.5752G= (p.Glu1918=)
c.11602G= (p.Glu3868=)
c.11482G= (p.Glu3828=)
c.11413G= (p.Glu3805=)
c.9817G= (p.Glu3273=)
6g.51627105C>GCA3850738PKHD1c.11677G>C (p.Glu3893Gln)
c.11548G>C (p.Glu3850Gln)
c.11539G>C (p.Glu3847Gln)
c.11035G>C (p.Glu3679Gln)
c.10966G>C (p.Glu3656Gln)
c.5752G>C (p.Glu1918Gln)
c.11602G>C (p.Glu3868Gln)
c.11482G>C (p.Glu3828Gln)
c.11413G>C (p.Glu3805Gln)
c.9817G>C (p.Glu3273Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51627105C>TCA364418981PKHD1c.11677G>A (p.Glu3893Lys)
c.11548G>A (p.Glu3850Lys)
c.11539G>A (p.Glu3847Lys)
c.11035G>A (p.Glu3679Lys)
c.10966G>A (p.Glu3656Lys)
c.5752G>A (p.Glu1918Lys)
c.11602G>A (p.Glu3868Lys)
c.11482G>A (p.Glu3828Lys)
c.11413G>A (p.Glu3805Lys)
c.9817G>A (p.Glu3273Lys)

Number of alleles fetched