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.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

Number of alleles fetched