Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51746864C>ACA364419715PKHD1c.9855G>T (p.Lys3285Asn)
c.9726G>T (p.Lys3242Asn)
c.9717G>T (p.Lys3239Asn)
c.9213G>T (p.Lys3071Asn)
c.9144G>T (p.Lys3048Asn)
c.*2G>T (n.*2G>T)
c.3930G>T (p.Lys1310Asn)
c.9780G>T (p.Lys3260Asn)
c.9660G>T (p.Lys3220Asn)
c.9591G>T (p.Lys3197Asn)
c.7995G>T (p.Lys2665Asn)
n.10131G>T
6g.51746864C>GCA364419717PKHD1c.9855G>C (p.Lys3285Asn)
c.9726G>C (p.Lys3242Asn)
c.9717G>C (p.Lys3239Asn)
c.9213G>C (p.Lys3071Asn)
c.9144G>C (p.Lys3048Asn)
c.*2G>C (n.*2G>C)
c.3930G>C (p.Lys1310Asn)
c.9780G>C (p.Lys3260Asn)
c.9660G>C (p.Lys3220Asn)
c.9591G>C (p.Lys3197Asn)
c.7995G>C (p.Lys2665Asn)
n.10131G>C
6g.51746864C>TCA450412410PKHD1c.9855G>A (p.Lys3285=)
c.9726G>A (p.Lys3242=)
c.9717G>A (p.Lys3239=)
c.9213G>A (p.Lys3071=)
c.9144G>A (p.Lys3048=)
c.*2G>A (n.*2G>A)
c.3930G>A (p.Lys1310=)
c.9780G>A (p.Lys3260=)
c.9660G>A (p.Lys3220=)
c.9591G>A (p.Lys3197=)
c.7995G>A (p.Lys2665=)
n.10131G>A
6g.51746865T>ACA364419720PKHD1c.9854A>T (p.Lys3285Met)
c.9725A>T (p.Lys3242Met)
c.9716A>T (p.Lys3239Met)
c.9212A>T (p.Lys3071Met)
c.9143A>T (p.Lys3048Met)
c.*1A>T (n.*1A>T)
c.3929A>T (p.Lys1310Met)
c.9779A>T (p.Lys3260Met)
c.9659A>T (p.Lys3220Met)
c.9590A>T (p.Lys3197Met)
c.7994A>T (p.Lys2665Met)
n.10130A>T
 dbSNP
6g.51746865T>CCA364419721PKHD1c.9854A>G (p.Lys3285Arg)
c.9725A>G (p.Lys3242Arg)
c.9716A>G (p.Lys3239Arg)
c.9212A>G (p.Lys3071Arg)
c.9143A>G (p.Lys3048Arg)
c.*1A>G (n.*1A>G)
c.3929A>G (p.Lys1310Arg)
c.9779A>G (p.Lys3260Arg)
c.9659A>G (p.Lys3220Arg)
c.9590A>G (p.Lys3197Arg)
c.7994A>G (p.Lys2665Arg)
n.10130A>G
 dbSNP gnomAD v3 gnomAD v4
6g.51746865T>GCA364419723PKHD1c.9854A>C (p.Lys3285Thr)
c.9725A>C (p.Lys3242Thr)
c.9716A>C (p.Lys3239Thr)
c.9212A>C (p.Lys3071Thr)
c.9143A>C (p.Lys3048Thr)
c.*1A>C (n.*1A>C)
c.3929A>C (p.Lys1310Thr)
c.9779A>C (p.Lys3260Thr)
c.9659A>C (p.Lys3220Thr)
c.9590A>C (p.Lys3197Thr)
c.7994A>C (p.Lys2665Thr)
n.10130A>C
6g.51746865T=CA1628500610PKHD1c.9854A= (p.Lys3285=)
c.9725A= (p.Lys3242=)
c.9716A= (p.Lys3239=)
c.9212A= (p.Lys3071=)
c.9143A= (p.Lys3048=)
c.*1A= (n.*1A=)
c.3929A= (p.Lys1310=)
c.9779A= (p.Lys3260=)
c.9659A= (p.Lys3220=)
c.9590A= (p.Lys3197=)
c.7994A= (p.Lys2665=)
n.10130A=
6g.51746866T>ACA364419724PKHD1c.9853A>T (p.Lys3285Ter)
c.9724A>T (p.Lys3242Ter)
c.9715A>T (p.Lys3239Ter)
c.9211A>T (p.Lys3071Ter)
c.9142A>T (p.Lys3048Ter)
c.9837A>T (p.Ter3279Cys)
c.3928A>T (p.Lys1310Ter)
c.9778A>T (p.Lys3260Ter)
c.9658A>T (p.Lys3220Ter)
c.9589A>T (p.Lys3197Ter)
c.7993A>T (p.Lys2665Ter)
n.10129A>T
6g.51746866T>CCA364419725PKHD1c.9853A>G (p.Lys3285Glu)
c.9724A>G (p.Lys3242Glu)
c.9715A>G (p.Lys3239Glu)
c.9211A>G (p.Lys3071Glu)
c.9142A>G (p.Lys3048Glu)
c.9837A>G (p.Ter3279Trp)
c.3928A>G (p.Lys1310Glu)
c.9778A>G (p.Lys3260Glu)
c.9658A>G (p.Lys3220Glu)
c.9589A>G (p.Lys3197Glu)
c.7993A>G (p.Lys2665Glu)
n.10129A>G
6g.51746866T>GCA364419728PKHD1c.9853A>C (p.Lys3285Gln)
c.9724A>C (p.Lys3242Gln)
c.9715A>C (p.Lys3239Gln)
c.9211A>C (p.Lys3071Gln)
c.9142A>C (p.Lys3048Gln)
c.9837A>C (p.Ter3279Cys)
c.3928A>C (p.Lys1310Gln)
c.9778A>C (p.Lys3260Gln)
c.9658A>C (p.Lys3220Gln)
c.9589A>C (p.Lys3197Gln)
c.7993A>C (p.Lys2665Gln)
n.10129A>C
6g.51746867C>ACA450412411PKHD1c.9852G>T (p.Val3284=)
c.9723G>T (p.Val3241=)
c.9714G>T (p.Val3238=)
c.9210G>T (p.Val3070=)
c.9141G>T (p.Val3047=)
c.9836G>T (p.Ter3279Leu)
c.3927G>T (p.Val1309=)
c.9777G>T (p.Val3259=)
c.9657G>T (p.Val3219=)
c.9588G>T (p.Val3196=)
c.7992G>T (p.Val2664=)
n.10128G>T
6g.51746867C>GCA450412412PKHD1c.9852G>C (p.Val3284=)
c.9723G>C (p.Val3241=)
c.9714G>C (p.Val3238=)
c.9210G>C (p.Val3070=)
c.9141G>C (p.Val3047=)
c.9836G>C (p.Ter3279Ser)
c.3927G>C (p.Val1309=)
c.9777G>C (p.Val3259=)
c.9657G>C (p.Val3219=)
c.9588G>C (p.Val3196=)
c.7992G>C (p.Val2664=)
n.10128G>C
6g.51746867C>TCA450412413PKHD1c.9852G>A (p.Val3284=)
c.9723G>A (p.Val3241=)
c.9714G>A (p.Val3238=)
c.9210G>A (p.Val3070=)
c.9141G>A (p.Val3047=)
c.9836G>A (p.Ter3279=)
c.3927G>A (p.Val1309=)
c.9777G>A (p.Val3259=)
c.9657G>A (p.Val3219=)
c.9588G>A (p.Val3196=)
c.7992G>A (p.Val2664=)
n.10128G>A
 ClinVar dbSNP gnomAD v4
6g.51746868A=CA1628500614PKHD1c.9851T= (p.Val3284=)
c.9722T= (p.Val3241=)
c.9713T= (p.Val3238=)
c.9209T= (p.Val3070=)
c.9140T= (p.Val3047=)
c.9835T= (p.Ter3279=)
c.3926T= (p.Val1309=)
c.9776T= (p.Val3259=)
c.9656T= (p.Val3219=)
c.9587T= (p.Val3196=)
c.7991T= (p.Val2664=)
n.10127T=
6g.51746868A>CCA364419734PKHD1c.9851T>G (p.Val3284Gly)
c.9722T>G (p.Val3241Gly)
c.9713T>G (p.Val3238Gly)
c.9209T>G (p.Val3070Gly)
c.9140T>G (p.Val3047Gly)
c.9835T>G (p.Ter3279Gly)
c.3926T>G (p.Val1309Gly)
c.9776T>G (p.Val3259Gly)
c.9656T>G (p.Val3219Gly)
c.9587T>G (p.Val3196Gly)
c.7991T>G (p.Val2664Gly)
n.10127T>G
6g.51746868A>GCA364419732PKHD1c.9851T>C (p.Val3284Ala)
c.9722T>C (p.Val3241Ala)
c.9713T>C (p.Val3238Ala)
c.9209T>C (p.Val3070Ala)
c.9140T>C (p.Val3047Ala)
c.9835T>C (p.Ter3279Arg)
c.3926T>C (p.Val1309Ala)
c.9776T>C (p.Val3259Ala)
c.9656T>C (p.Val3219Ala)
c.9587T>C (p.Val3196Ala)
c.7991T>C (p.Val2664Ala)
n.10127T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51746868A>TCA364419730PKHD1c.9851T>A (p.Val3284Glu)
c.9722T>A (p.Val3241Glu)
c.9713T>A (p.Val3238Glu)
c.9209T>A (p.Val3070Glu)
c.9140T>A (p.Val3047Glu)
c.9835T>A (p.Ter3279Arg)
c.3926T>A (p.Val1309Glu)
c.9776T>A (p.Val3259Glu)
c.9656T>A (p.Val3219Glu)
c.9587T>A (p.Val3196Glu)
c.7991T>A (p.Val2664Glu)
n.10127T>A
6g.51746869delCA2695206421PKHD1c.9850del (p.Val3284Ter)
c.9721del (p.Val3241Ter)
c.9712del (p.Val3238Ter)
c.9208del (p.Val3070Ter)
c.9139del (p.Val3047Ter)
c.9834del (p.Leu3278PhefsTer6)
c.3925del (p.Val1309Ter)
c.9775del (p.Val3259Ter)
c.9655del (p.Val3219Ter)
c.9586del (p.Val3196Ter)
c.7990del (p.Val2664Ter)
n.10126del
6g.51746869C>ACA364419736PKHD1c.9850G>T (p.Val3284Leu)
c.9721G>T (p.Val3241Leu)
c.9712G>T (p.Val3238Leu)
c.9208G>T (p.Val3070Leu)
c.9139G>T (p.Val3047Leu)
c.9834G>T (p.Leu3278Phe)
c.3925G>T (p.Val1309Leu)
c.9775G>T (p.Val3259Leu)
c.9655G>T (p.Val3219Leu)
c.9586G>T (p.Val3196Leu)
c.7990G>T (p.Val2664Leu)
n.10126G>T
6g.51746869C=CA1628500618PKHD1c.9850G= (p.Val3284=)
c.9721G= (p.Val3241=)
c.9712G= (p.Val3238=)
c.9208G= (p.Val3070=)
c.9139G= (p.Val3047=)
c.9834G= (p.Leu3278=)
c.3925G= (p.Val1309=)
c.9775G= (p.Val3259=)
c.9655G= (p.Val3219=)
c.9586G= (p.Val3196=)
c.7990G= (p.Val2664=)
n.10126G=
6g.51746869C>GCA364419738PKHD1c.9850G>C (p.Val3284Leu)
c.9721G>C (p.Val3241Leu)
c.9712G>C (p.Val3238Leu)
c.9208G>C (p.Val3070Leu)
c.9139G>C (p.Val3047Leu)
c.9834G>C (p.Leu3278Phe)
c.3925G>C (p.Val1309Leu)
c.9775G>C (p.Val3259Leu)
c.9655G>C (p.Val3219Leu)
c.9586G>C (p.Val3196Leu)
c.7990G>C (p.Val2664Leu)
n.10126G>C
 dbSNP
6g.51746869C>TCA364419740PKHD1c.9850G>A (p.Val3284Met)
c.9721G>A (p.Val3241Met)
c.9712G>A (p.Val3238Met)
c.9208G>A (p.Val3070Met)
c.9139G>A (p.Val3047Met)
c.9834G>A (p.Leu3278=)
c.3925G>A (p.Val1309Met)
c.9775G>A (p.Val3259Met)
c.9655G>A (p.Val3219Met)
c.9586G>A (p.Val3196Met)
c.7990G>A (p.Val2664Met)
n.10126G>A
 dbSNP gnomAD v2 gnomAD v4
6g.51746870A=CA1628500624PKHD1c.9849T= (p.Phe3283=)
c.9720T= (p.Phe3240=)
c.9711T= (p.Phe3237=)
c.9207T= (p.Phe3069=)
c.9138T= (p.Phe3046=)
c.9833T= (p.Leu3278=)
c.3924T= (p.Phe1308=)
c.9774T= (p.Phe3258=)
c.9654T= (p.Phe3218=)
c.9585T= (p.Phe3195=)
c.7989T= (p.Phe2663=)
n.10125T=
6g.51746870A>CCA364419742PKHD1c.9849T>G (p.Phe3283Leu)
c.9720T>G (p.Phe3240Leu)
c.9711T>G (p.Phe3237Leu)
c.9207T>G (p.Phe3069Leu)
c.9138T>G (p.Phe3046Leu)
c.9833T>G (p.Leu3278Trp)
c.3924T>G (p.Phe1308Leu)
c.9774T>G (p.Phe3258Leu)
c.9654T>G (p.Phe3218Leu)
c.9585T>G (p.Phe3195Leu)
c.7989T>G (p.Phe2663Leu)
n.10125T>G
6g.51746870A>GCA3851304PKHD1c.9849T>C (p.Phe3283=)
c.9720T>C (p.Phe3240=)
c.9711T>C (p.Phe3237=)
c.9207T>C (p.Phe3069=)
c.9138T>C (p.Phe3046=)
c.9833T>C (p.Leu3278Ser)
c.3924T>C (p.Phe1308=)
c.9774T>C (p.Phe3258=)
c.9654T>C (p.Phe3218=)
c.9585T>C (p.Phe3195=)
c.7989T>C (p.Phe2663=)
n.10125T>C
 ClinVar dbSNP ExAC gnomAD v2
6g.51746870A>TCA364419744PKHD1c.9849T>A (p.Phe3283Leu)
c.9720T>A (p.Phe3240Leu)
c.9711T>A (p.Phe3237Leu)
c.9207T>A (p.Phe3069Leu)
c.9138T>A (p.Phe3046Leu)
c.9833T>A (p.Leu3278Ter)
c.3924T>A (p.Phe1308Leu)
c.9774T>A (p.Phe3258Leu)
c.9654T>A (p.Phe3218Leu)
c.9585T>A (p.Phe3195Leu)
c.7989T>A (p.Phe2663Leu)
n.10125T>A
6g.51746871A>CCA364419746PKHD1c.9848T>G (p.Phe3283Cys)
c.9719T>G (p.Phe3240Cys)
c.9710T>G (p.Phe3237Cys)
c.9206T>G (p.Phe3069Cys)
c.9137T>G (p.Phe3046Cys)
c.9832T>G (p.Leu3278Val)
c.3923T>G (p.Phe1308Cys)
c.9773T>G (p.Phe3258Cys)
c.9653T>G (p.Phe3218Cys)
c.9584T>G (p.Phe3195Cys)
c.7988T>G (p.Phe2663Cys)
n.10124T>G
6g.51746871A>GCA364419748PKHD1c.9848T>C (p.Phe3283Ser)
c.9719T>C (p.Phe3240Ser)
c.9710T>C (p.Phe3237Ser)
c.9206T>C (p.Phe3069Ser)
c.9137T>C (p.Phe3046Ser)
c.9832T>C (p.Leu3278=)
c.3923T>C (p.Phe1308Ser)
c.9773T>C (p.Phe3258Ser)
c.9653T>C (p.Phe3218Ser)
c.9584T>C (p.Phe3195Ser)
c.7988T>C (p.Phe2663Ser)
n.10124T>C
 dbSNP
6g.51746871A>TCA364419750PKHD1c.9848T>A (p.Phe3283Tyr)
c.9719T>A (p.Phe3240Tyr)
c.9710T>A (p.Phe3237Tyr)
c.9206T>A (p.Phe3069Tyr)
c.9137T>A (p.Phe3046Tyr)
c.9832T>A (p.Leu3278Met)
c.3923T>A (p.Phe1308Tyr)
c.9773T>A (p.Phe3258Tyr)
c.9653T>A (p.Phe3218Tyr)
c.9584T>A (p.Phe3195Tyr)
c.7988T>A (p.Phe2663Tyr)
n.10124T>A
6g.51746872A>CCA364419752PKHD1c.9847T>G (p.Phe3283Val)
c.9718T>G (p.Phe3240Val)
c.9709T>G (p.Phe3237Val)
c.9205T>G (p.Phe3069Val)
c.9136T>G (p.Phe3046Val)
c.9831T>G (p.Val3277=)
c.3922T>G (p.Phe1308Val)
c.9772T>G (p.Phe3258Val)
c.9652T>G (p.Phe3218Val)
c.9583T>G (p.Phe3195Val)
c.7987T>G (p.Phe2663Val)
n.10123T>G
6g.51746872A>GCA364419754PKHD1c.9847T>C (p.Phe3283Leu)
c.9718T>C (p.Phe3240Leu)
c.9709T>C (p.Phe3237Leu)
c.9205T>C (p.Phe3069Leu)
c.9136T>C (p.Phe3046Leu)
c.9831T>C (p.Val3277=)
c.3922T>C (p.Phe1308Leu)
c.9772T>C (p.Phe3258Leu)
c.9652T>C (p.Phe3218Leu)
c.9583T>C (p.Phe3195Leu)
c.7987T>C (p.Phe2663Leu)
n.10123T>C
6g.51746872A>TCA364419759PKHD1c.9847T>A (p.Phe3283Ile)
c.9718T>A (p.Phe3240Ile)
c.9709T>A (p.Phe3237Ile)
c.9205T>A (p.Phe3069Ile)
c.9136T>A (p.Phe3046Ile)
c.9831T>A (p.Val3277=)
c.3922T>A (p.Phe1308Ile)
c.9772T>A (p.Phe3258Ile)
c.9652T>A (p.Phe3218Ile)
c.9583T>A (p.Phe3195Ile)
c.7987T>A (p.Phe2663Ile)
n.10123T>A
6g.51746873A=CA1628500628PKHD1c.9846T= (p.Ser3282=)
c.9717T= (p.Ser3239=)
c.9708T= (p.Ser3236=)
c.9204T= (p.Ser3068=)
c.9135T= (p.Ser3045=)
c.9830T= (p.Val3277=)
c.3921T= (p.Ser1307=)
c.9771T= (p.Ser3257=)
c.9651T= (p.Ser3217=)
c.9582T= (p.Ser3194=)
c.7986T= (p.Ser2662=)
n.10122T=
6g.51746873A>CCA364419763PKHD1c.9846T>G (p.Ser3282Arg)
c.9717T>G (p.Ser3239Arg)
c.9708T>G (p.Ser3236Arg)
c.9204T>G (p.Ser3068Arg)
c.9135T>G (p.Ser3045Arg)
c.9830T>G (p.Val3277Gly)
c.3921T>G (p.Ser1307Arg)
c.9771T>G (p.Ser3257Arg)
c.9651T>G (p.Ser3217Arg)
c.9582T>G (p.Ser3194Arg)
c.7986T>G (p.Ser2662Arg)
n.10122T>G
6g.51746873A>GCA450412415PKHD1c.9846T>C (p.Ser3282=)
c.9717T>C (p.Ser3239=)
c.9708T>C (p.Ser3236=)
c.9204T>C (p.Ser3068=)
c.9135T>C (p.Ser3045=)
c.9830T>C (p.Val3277Ala)
c.3921T>C (p.Ser1307=)
c.9771T>C (p.Ser3257=)
c.9651T>C (p.Ser3217=)
c.9582T>C (p.Ser3194=)
c.7986T>C (p.Ser2662=)
n.10122T>C
 ClinVar dbSNP
6g.51746873A>TCA364419761PKHD1c.9846T>A (p.Ser3282Arg)
c.9717T>A (p.Ser3239Arg)
c.9708T>A (p.Ser3236Arg)
c.9204T>A (p.Ser3068Arg)
c.9135T>A (p.Ser3045Arg)
c.9830T>A (p.Val3277Asp)
c.3921T>A (p.Ser1307Arg)
c.9771T>A (p.Ser3257Arg)
c.9651T>A (p.Ser3217Arg)
c.9582T>A (p.Ser3194Arg)
c.7986T>A (p.Ser2662Arg)
n.10122T>A
 dbSNP gnomAD v2 gnomAD v4
6g.51746874delCA2580075424PKHD1c.9845del (p.Ser3282IlefsTer3)
c.9716del (p.Ser3239IlefsTer3)
c.9707del (p.Ser3236IlefsTer3)
c.9203del (p.Ser3068IlefsTer3)
c.9134del (p.Ser3045IlefsTer3)
c.9830-1del (n.9830-1del)
c.3920del (p.Ser1307IlefsTer3)
c.9770del (p.Ser3257IlefsTer3)
c.9650del (p.Ser3217IlefsTer3)
c.9581del (p.Ser3194IlefsTer3)
c.7985del (p.Ser2662IlefsTer3)
n.10121del
 ClinVar
6g.51746874C>ACA364419766PKHD1c.9845G>T (p.Ser3282Ile)
c.9716G>T (p.Ser3239Ile)
c.9707G>T (p.Ser3236Ile)
c.9203G>T (p.Ser3068Ile)
c.9134G>T (p.Ser3045Ile)
c.9830-1G>T (n.9830-1G>T)
c.3920G>T (p.Ser1307Ile)
c.9770G>T (p.Ser3257Ile)
c.9650G>T (p.Ser3217Ile)
c.9581G>T (p.Ser3194Ile)
c.7985G>T (p.Ser2662Ile)
n.10121G>T
6g.51746874C>GCA364419768PKHD1c.9845G>C (p.Ser3282Thr)
c.9716G>C (p.Ser3239Thr)
c.9707G>C (p.Ser3236Thr)
c.9203G>C (p.Ser3068Thr)
c.9134G>C (p.Ser3045Thr)
c.9830-1G>C (n.9830-1G>C)
c.3920G>C (p.Ser1307Thr)
c.9770G>C (p.Ser3257Thr)
c.9650G>C (p.Ser3217Thr)
c.9581G>C (p.Ser3194Thr)
c.7985G>C (p.Ser2662Thr)
n.10121G>C
6g.51746874C>TCA364419770PKHD1c.9845G>A (p.Ser3282Asn)
c.9716G>A (p.Ser3239Asn)
c.9707G>A (p.Ser3236Asn)
c.9203G>A (p.Ser3068Asn)
c.9134G>A (p.Ser3045Asn)
c.9830-1G>A (n.9830-1G>A)
c.3920G>A (p.Ser1307Asn)
c.9770G>A (p.Ser3257Asn)
c.9650G>A (p.Ser3217Asn)
c.9581G>A (p.Ser3194Asn)
c.7985G>A (p.Ser2662Asn)
n.10121G>A
6g.51746875T>ACA364419772PKHD1c.9844A>T (p.Ser3282Cys)
c.9715A>T (p.Ser3239Cys)
c.9706A>T (p.Ser3236Cys)
c.9202A>T (p.Ser3068Cys)
c.9133A>T (p.Ser3045Cys)
c.9830-2A>T (n.9830-2A>T)
c.3919A>T (p.Ser1307Cys)
c.9769A>T (p.Ser3257Cys)
c.9649A>T (p.Ser3217Cys)
c.9580A>T (p.Ser3194Cys)
c.7984A>T (p.Ser2662Cys)
n.10120A>T
6g.51746875T>CCA364419774PKHD1c.9844A>G (p.Ser3282Gly)
c.9715A>G (p.Ser3239Gly)
c.9706A>G (p.Ser3236Gly)
c.9202A>G (p.Ser3068Gly)
c.9133A>G (p.Ser3045Gly)
c.9830-2A>G (n.9830-2A>G)
c.3919A>G (p.Ser1307Gly)
c.9769A>G (p.Ser3257Gly)
c.9649A>G (p.Ser3217Gly)
c.9580A>G (p.Ser3194Gly)
c.7984A>G (p.Ser2662Gly)
n.10120A>G
6g.51746875T>GCA364419776PKHD1c.9844A>C (p.Ser3282Arg)
c.9715A>C (p.Ser3239Arg)
c.9706A>C (p.Ser3236Arg)
c.9202A>C (p.Ser3068Arg)
c.9133A>C (p.Ser3045Arg)
c.9830-2A>C (n.9830-2A>C)
c.3919A>C (p.Ser1307Arg)
c.9769A>C (p.Ser3257Arg)
c.9649A>C (p.Ser3217Arg)
c.9580A>C (p.Ser3194Arg)
c.7984A>C (p.Ser2662Arg)
n.10120A>C
 dbSNP
6g.51746876A=CA1628500633PKHD1c.9843T= (p.Ser3281=)
c.9714T= (p.Ser3238=)
c.9705T= (p.Ser3235=)
c.9201T= (p.Ser3067=)
c.9132T= (p.Ser3044=)
c.9830-3T= (n.9830-3T=)
c.3918T= (p.Ser1306=)
c.9768T= (p.Ser3256=)
c.9648T= (p.Ser3216=)
c.9579T= (p.Ser3193=)
c.7983T= (p.Ser2661=)
n.10119T=
6g.51746876A>CCA450412418PKHD1c.9843T>G (p.Ser3281=)
c.9714T>G (p.Ser3238=)
c.9705T>G (p.Ser3235=)
c.9201T>G (p.Ser3067=)
c.9132T>G (p.Ser3044=)
c.9830-3T>G (n.9830-3T>G)
c.3918T>G (p.Ser1306=)
c.9768T>G (p.Ser3256=)
c.9648T>G (p.Ser3216=)
c.9579T>G (p.Ser3193=)
c.7983T>G (p.Ser2661=)
n.10119T>G
6g.51746876A>GCA450412419PKHD1c.9843T>C (p.Ser3281=)
c.9714T>C (p.Ser3238=)
c.9705T>C (p.Ser3235=)
c.9201T>C (p.Ser3067=)
c.9132T>C (p.Ser3044=)
c.9830-3T>C (n.9830-3T>C)
c.3918T>C (p.Ser1306=)
c.9768T>C (p.Ser3256=)
c.9648T>C (p.Ser3216=)
c.9579T>C (p.Ser3193=)
c.7983T>C (p.Ser2661=)
n.10119T>C
 dbSNP gnomAD v4
6g.51746876A>TCA450412420PKHD1c.9843T>A (p.Ser3281=)
c.9714T>A (p.Ser3238=)
c.9705T>A (p.Ser3235=)
c.9201T>A (p.Ser3067=)
c.9132T>A (p.Ser3044=)
c.9830-3T>A (n.9830-3T>A)
c.3918T>A (p.Ser1306=)
c.9768T>A (p.Ser3256=)
c.9648T>A (p.Ser3216=)
c.9579T>A (p.Ser3193=)
c.7983T>A (p.Ser2661=)
n.10119T>A
6g.51746877G>ACA364419782PKHD1c.9842C>T (p.Ser3281Phe)
c.9713C>T (p.Ser3238Phe)
c.9704C>T (p.Ser3235Phe)
c.9200C>T (p.Ser3067Phe)
c.9131C>T (p.Ser3044Phe)
c.9830-4C>T (n.9830-4C>T)
c.3917C>T (p.Ser1306Phe)
c.9767C>T (p.Ser3256Phe)
c.9647C>T (p.Ser3216Phe)
c.9578C>T (p.Ser3193Phe)
c.7982C>T (p.Ser2661Phe)
n.10118C>T
6g.51746877G>CCA364419778PKHD1c.9842C>G (p.Ser3281Cys)
c.9713C>G (p.Ser3238Cys)
c.9704C>G (p.Ser3235Cys)
c.9200C>G (p.Ser3067Cys)
c.9131C>G (p.Ser3044Cys)
c.9830-4C>G (n.9830-4C>G)
c.3917C>G (p.Ser1306Cys)
c.9767C>G (p.Ser3256Cys)
c.9647C>G (p.Ser3216Cys)
c.9578C>G (p.Ser3193Cys)
c.7982C>G (p.Ser2661Cys)
n.10118C>G
 dbSNP
6g.51746877G>TCA364419780PKHD1c.9842C>A (p.Ser3281Tyr)
c.9713C>A (p.Ser3238Tyr)
c.9704C>A (p.Ser3235Tyr)
c.9200C>A (p.Ser3067Tyr)
c.9131C>A (p.Ser3044Tyr)
c.9830-4C>A (n.9830-4C>A)
c.3917C>A (p.Ser1306Tyr)
c.9767C>A (p.Ser3256Tyr)
c.9647C>A (p.Ser3216Tyr)
c.9578C>A (p.Ser3193Tyr)
c.7982C>A (p.Ser2661Tyr)
n.10118C>A

Number of alleles fetched