Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51912472C>ACA364439694PKHD1c.6226G>T (p.Val2076Phe)
c.5584G>T (p.Val1862Phe)
c.5515G>T (p.Val1839Phe)
c.301G>T (p.Val101Phe)
c.6151G>T (p.Val2051Phe)
c.5962G>T (p.Val1988Phe)
c.4366G>T (p.Val1456Phe)
n.6502G>T
6g.51912472C>GCA364439696PKHD1c.6226G>C (p.Val2076Leu)
c.5584G>C (p.Val1862Leu)
c.5515G>C (p.Val1839Leu)
c.301G>C (p.Val101Leu)
c.6151G>C (p.Val2051Leu)
c.5962G>C (p.Val1988Leu)
c.4366G>C (p.Val1456Leu)
n.6502G>C
6g.51912472C>TCA364439698PKHD1c.6226G>A (p.Val2076Ile)
c.5584G>A (p.Val1862Ile)
c.5515G>A (p.Val1839Ile)
c.301G>A (p.Val101Ile)
c.6151G>A (p.Val2051Ile)
c.5962G>A (p.Val1988Ile)
c.4366G>A (p.Val1456Ile)
n.6502G>A
 ClinVar
6g.51912473T>ACA364439701PKHD1c.6225A>T (p.Glu2075Asp)
c.5583A>T (p.Glu1861Asp)
c.5514A>T (p.Glu1838Asp)
c.300A>T (p.Glu100Asp)
c.6150A>T (p.Glu2050Asp)
c.5961A>T (p.Glu1987Asp)
c.4365A>T (p.Glu1455Asp)
n.6501A>T
6g.51912473T>CCA450415983PKHD1c.6225A>G (p.Glu2075=)
c.5583A>G (p.Glu1861=)
c.5514A>G (p.Glu1838=)
c.300A>G (p.Glu100=)
c.6150A>G (p.Glu2050=)
c.5961A>G (p.Glu1987=)
c.4365A>G (p.Glu1455=)
n.6501A>G
 ClinVar gnomAD v4
6g.51912473T>GCA364439703PKHD1c.6225A>C (p.Glu2075Asp)
c.5583A>C (p.Glu1861Asp)
c.5514A>C (p.Glu1838Asp)
c.300A>C (p.Glu100Asp)
c.6150A>C (p.Glu2050Asp)
c.5961A>C (p.Glu1987Asp)
c.4365A>C (p.Glu1455Asp)
n.6501A>C
6g.51912474T>ACA364439706PKHD1c.6224A>T (p.Glu2075Val)
c.5582A>T (p.Glu1861Val)
c.5513A>T (p.Glu1838Val)
c.299A>T (p.Glu100Val)
c.6149A>T (p.Glu2050Val)
c.5960A>T (p.Glu1987Val)
c.4364A>T (p.Glu1455Val)
n.6500A>T
6g.51912474T>CCA364439708PKHD1c.6224A>G (p.Glu2075Gly)
c.5582A>G (p.Glu1861Gly)
c.5513A>G (p.Glu1838Gly)
c.299A>G (p.Glu100Gly)
c.6149A>G (p.Glu2050Gly)
c.5960A>G (p.Glu1987Gly)
c.4364A>G (p.Glu1455Gly)
n.6500A>G
6g.51912474T>GCA364439709PKHD1c.6224A>C (p.Glu2075Ala)
c.5582A>C (p.Glu1861Ala)
c.5513A>C (p.Glu1838Ala)
c.299A>C (p.Glu100Ala)
c.6149A>C (p.Glu2050Ala)
c.5960A>C (p.Glu1987Ala)
c.4364A>C (p.Glu1455Ala)
n.6500A>C
6g.51912475C>ACA364439712PKHD1c.6223G>T (p.Glu2075Ter)
c.5581G>T (p.Glu1861Ter)
c.5512G>T (p.Glu1838Ter)
c.298G>T (p.Glu100Ter)
c.6148G>T (p.Glu2050Ter)
c.5959G>T (p.Glu1987Ter)
c.4363G>T (p.Glu1455Ter)
n.6499G>T
6g.51912475C>GCA364439714PKHD1c.6223G>C (p.Glu2075Gln)
c.5581G>C (p.Glu1861Gln)
c.5512G>C (p.Glu1838Gln)
c.298G>C (p.Glu100Gln)
c.6148G>C (p.Glu2050Gln)
c.5959G>C (p.Glu1987Gln)
c.4363G>C (p.Glu1455Gln)
n.6499G>C
6g.51912475C>TCA364439716PKHD1c.6223G>A (p.Glu2075Lys)
c.5581G>A (p.Glu1861Lys)
c.5512G>A (p.Glu1838Lys)
c.298G>A (p.Glu100Lys)
c.6148G>A (p.Glu2050Lys)
c.5959G>A (p.Glu1987Lys)
c.4363G>A (p.Glu1455Lys)
n.6499G>A
6g.51912476A>CCA364439718PKHD1c.6222T>G (p.Asp2074Glu)
c.5580T>G (p.Asp1860Glu)
c.5511T>G (p.Asp1837Glu)
c.297T>G (p.Asp99Glu)
c.6147T>G (p.Asp2049Glu)
c.5958T>G (p.Asp1986Glu)
c.4362T>G (p.Asp1454Glu)
n.6498T>G
6g.51912476A>GCA450415984PKHD1c.6222T>C (p.Asp2074=)
c.5580T>C (p.Asp1860=)
c.5511T>C (p.Asp1837=)
c.297T>C (p.Asp99=)
c.6147T>C (p.Asp2049=)
c.5958T>C (p.Asp1986=)
c.4362T>C (p.Asp1454=)
n.6498T>C
 gnomAD v4
6g.51912476A>TCA364439720PKHD1c.6222T>A (p.Asp2074Glu)
c.5580T>A (p.Asp1860Glu)
c.5511T>A (p.Asp1837Glu)
c.297T>A (p.Asp99Glu)
c.6147T>A (p.Asp2049Glu)
c.5958T>A (p.Asp1986Glu)
c.4362T>A (p.Asp1454Glu)
n.6498T>A
 gnomAD v4
6g.51912477T>ACA364439723PKHD1c.6221A>T (p.Asp2074Val)
c.5579A>T (p.Asp1860Val)
c.5510A>T (p.Asp1837Val)
c.296A>T (p.Asp99Val)
c.6146A>T (p.Asp2049Val)
c.5957A>T (p.Asp1986Val)
c.4361A>T (p.Asp1454Val)
n.6497A>T
6g.51912477T>CCA364439727PKHD1c.6221A>G (p.Asp2074Gly)
c.5579A>G (p.Asp1860Gly)
c.5510A>G (p.Asp1837Gly)
c.296A>G (p.Asp99Gly)
c.6146A>G (p.Asp2049Gly)
c.5957A>G (p.Asp1986Gly)
c.4361A>G (p.Asp1454Gly)
n.6497A>G
6g.51912477T>GCA364439724PKHD1c.6221A>C (p.Asp2074Ala)
c.5579A>C (p.Asp1860Ala)
c.5510A>C (p.Asp1837Ala)
c.296A>C (p.Asp99Ala)
c.6146A>C (p.Asp2049Ala)
c.5957A>C (p.Asp1986Ala)
c.4361A>C (p.Asp1454Ala)
n.6497A>C
6g.51912478C>ACA364439729PKHD1c.6220G>T (p.Asp2074Tyr)
c.5578G>T (p.Asp1860Tyr)
c.5509G>T (p.Asp1837Tyr)
c.295G>T (p.Asp99Tyr)
c.6145G>T (p.Asp2049Tyr)
c.5956G>T (p.Asp1986Tyr)
c.4360G>T (p.Asp1454Tyr)
n.6496G>T
6g.51912478C>GCA364439732PKHD1c.6220G>C (p.Asp2074His)
c.5578G>C (p.Asp1860His)
c.5509G>C (p.Asp1837His)
c.295G>C (p.Asp99His)
c.6145G>C (p.Asp2049His)
c.5956G>C (p.Asp1986His)
c.4360G>C (p.Asp1454His)
n.6496G>C
6g.51912478C>TCA364439734PKHD1c.6220G>A (p.Asp2074Asn)
c.5578G>A (p.Asp1860Asn)
c.5509G>A (p.Asp1837Asn)
c.295G>A (p.Asp99Asn)
c.6145G>A (p.Asp2049Asn)
c.5956G>A (p.Asp1986Asn)
c.4360G>A (p.Asp1454Asn)
n.6496G>A
 COSMIC COSMIC
6g.51912479C>ACA450415985PKHD1c.6219G>T (p.Gly2073=)
c.5577G>T (p.Gly1859=)
c.5508G>T (p.Gly1836=)
c.294G>T (p.Gly98=)
c.6144G>T (p.Gly2048=)
c.5955G>T (p.Gly1985=)
c.4359G>T (p.Gly1453=)
n.6495G>T
6g.51912479C>GCA450415986PKHD1c.6219G>C (p.Gly2073=)
c.5577G>C (p.Gly1859=)
c.5508G>C (p.Gly1836=)
c.294G>C (p.Gly98=)
c.6144G>C (p.Gly2048=)
c.5955G>C (p.Gly1985=)
c.4359G>C (p.Gly1453=)
n.6495G>C
6g.51912479C>TCA450415987PKHD1c.6219G>A (p.Gly2073=)
c.5577G>A (p.Gly1859=)
c.5508G>A (p.Gly1836=)
c.294G>A (p.Gly98=)
c.6144G>A (p.Gly2048=)
c.5955G>A (p.Gly1985=)
c.4359G>A (p.Gly1453=)
n.6495G>A
6g.51912480C>ACA364439737PKHD1c.6218G>T (p.Gly2073Val)
c.5576G>T (p.Gly1859Val)
c.5507G>T (p.Gly1836Val)
c.293G>T (p.Gly98Val)
c.6143G>T (p.Gly2048Val)
c.5954G>T (p.Gly1985Val)
c.4358G>T (p.Gly1453Val)
n.6494G>T
6g.51912480C=CA1628583405PKHD1c.6218G= (p.Gly2073=)
c.5576G= (p.Gly1859=)
c.5507G= (p.Gly1836=)
c.293G= (p.Gly98=)
c.6143G= (p.Gly2048=)
c.5954G= (p.Gly1985=)
c.4358G= (p.Gly1453=)
n.6494G=
6g.51912480C>GCA364439739PKHD1c.6218G>C (p.Gly2073Ala)
c.5576G>C (p.Gly1859Ala)
c.5507G>C (p.Gly1836Ala)
c.293G>C (p.Gly98Ala)
c.6143G>C (p.Gly2048Ala)
c.5954G>C (p.Gly1985Ala)
c.4358G>C (p.Gly1453Ala)
n.6494G>C
6g.51912480C>TCA364439742PKHD1c.6218G>A (p.Gly2073Glu)
c.5576G>A (p.Gly1859Glu)
c.5507G>A (p.Gly1836Glu)
c.293G>A (p.Gly98Glu)
c.6143G>A (p.Gly2048Glu)
c.5954G>A (p.Gly1985Glu)
c.4358G>A (p.Gly1453Glu)
n.6494G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51912481C>ACA364439745PKHD1c.6217G>T (p.Gly2073Trp)
c.5575G>T (p.Gly1859Trp)
c.5506G>T (p.Gly1836Trp)
c.292G>T (p.Gly98Trp)
c.6142G>T (p.Gly2048Trp)
c.5953G>T (p.Gly1985Trp)
c.4357G>T (p.Gly1453Trp)
n.6493G>T
6g.51912481C=CA1628583411PKHD1c.6217G= (p.Gly2073=)
c.5575G= (p.Gly1859=)
c.5506G= (p.Gly1836=)
c.292G= (p.Gly98=)
c.6142G= (p.Gly2048=)
c.5953G= (p.Gly1985=)
c.4357G= (p.Gly1453=)
n.6493G=
6g.51912481C>GCA364439747PKHD1c.6217G>C (p.Gly2073Arg)
c.5575G>C (p.Gly1859Arg)
c.5506G>C (p.Gly1836Arg)
c.292G>C (p.Gly98Arg)
c.6142G>C (p.Gly2048Arg)
c.5953G>C (p.Gly1985Arg)
c.4357G>C (p.Gly1453Arg)
n.6493G>C
6g.51912481C>TCA3852312PKHD1c.6217G>A (p.Gly2073Arg)
c.5575G>A (p.Gly1859Arg)
c.5506G>A (p.Gly1836Arg)
c.292G>A (p.Gly98Arg)
c.6142G>A (p.Gly2048Arg)
c.5953G>A (p.Gly1985Arg)
c.4357G>A (p.Gly1453Arg)
n.6493G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912482A=CA1628583422PKHD1c.6216T= (p.Pro2072=)
c.5574T= (p.Pro1858=)
c.5505T= (p.Pro1835=)
c.291T= (p.Pro97=)
c.6141T= (p.Pro2047=)
c.5952T= (p.Pro1984=)
c.4356T= (p.Pro1452=)
n.6492T=
6g.51912482A>CCA244961PKHD1c.6216T>G (p.Pro2072=)
c.5574T>G (p.Pro1858=)
c.5505T>G (p.Pro1835=)
c.291T>G (p.Pro97=)
c.6141T>G (p.Pro2047=)
c.5952T>G (p.Pro1984=)
c.4356T>G (p.Pro1452=)
n.6492T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912482A>GCA450415988PKHD1c.6216T>C (p.Pro2072=)
c.5574T>C (p.Pro1858=)
c.5505T>C (p.Pro1835=)
c.291T>C (p.Pro97=)
c.6141T>C (p.Pro2047=)
c.5952T>C (p.Pro1984=)
c.4356T>C (p.Pro1452=)
n.6492T>C
 dbSNP
6g.51912482A>TCA450415989PKHD1c.6216T>A (p.Pro2072=)
c.5574T>A (p.Pro1858=)
c.5505T>A (p.Pro1835=)
c.291T>A (p.Pro97=)
c.6141T>A (p.Pro2047=)
c.5952T>A (p.Pro1984=)
c.4356T>A (p.Pro1452=)
n.6492T>A
6g.51912483G>ACA364439757PKHD1c.6215C>T (p.Pro2072Leu)
c.5573C>T (p.Pro1858Leu)
c.5504C>T (p.Pro1835Leu)
c.290C>T (p.Pro97Leu)
c.6140C>T (p.Pro2047Leu)
c.5951C>T (p.Pro1984Leu)
c.4355C>T (p.Pro1452Leu)
n.6491C>T
 COSMIC COSMIC
6g.51912483G>CCA364439755PKHD1c.6215C>G (p.Pro2072Arg)
c.5573C>G (p.Pro1858Arg)
c.5504C>G (p.Pro1835Arg)
c.290C>G (p.Pro97Arg)
c.6140C>G (p.Pro2047Arg)
c.5951C>G (p.Pro1984Arg)
c.4355C>G (p.Pro1452Arg)
n.6491C>G
 gnomAD v4
6g.51912483G>TCA364439752PKHD1c.6215C>A (p.Pro2072His)
c.5573C>A (p.Pro1858His)
c.5504C>A (p.Pro1835His)
c.290C>A (p.Pro97His)
c.6140C>A (p.Pro2047His)
c.5951C>A (p.Pro1984His)
c.4355C>A (p.Pro1452His)
n.6491C>A
 COSMIC COSMIC
6g.51912484G>ACA364439759PKHD1c.6214C>T (p.Pro2072Ser)
c.5572C>T (p.Pro1858Ser)
c.5503C>T (p.Pro1835Ser)
c.289C>T (p.Pro97Ser)
c.6139C>T (p.Pro2047Ser)
c.5950C>T (p.Pro1984Ser)
c.4354C>T (p.Pro1452Ser)
n.6490C>T
6g.51912484G>CCA364439764PKHD1c.6214C>G (p.Pro2072Ala)
c.5572C>G (p.Pro1858Ala)
c.5503C>G (p.Pro1835Ala)
c.289C>G (p.Pro97Ala)
c.6139C>G (p.Pro2047Ala)
c.5950C>G (p.Pro1984Ala)
c.4354C>G (p.Pro1452Ala)
n.6490C>G
6g.51912484G>TCA364439762PKHD1c.6214C>A (p.Pro2072Thr)
c.5572C>A (p.Pro1858Thr)
c.5503C>A (p.Pro1835Thr)
c.289C>A (p.Pro97Thr)
c.6139C>A (p.Pro2047Thr)
c.5950C>A (p.Pro1984Thr)
c.4354C>A (p.Pro1452Thr)
n.6490C>A
6g.51912485G>ACA450415990PKHD1c.6213C>T (p.Asn2071=)
c.5571C>T (p.Asn1857=)
c.5502C>T (p.Asn1834=)
c.288C>T (p.Asn96=)
c.6138C>T (p.Asn2046=)
c.5949C>T (p.Asn1983=)
c.4353C>T (p.Asn1451=)
n.6489C>T
 gnomAD v4
6g.51912485G>CCA364439767PKHD1c.6213C>G (p.Asn2071Lys)
c.5571C>G (p.Asn1857Lys)
c.5502C>G (p.Asn1834Lys)
c.288C>G (p.Asn96Lys)
c.6138C>G (p.Asn2046Lys)
c.5949C>G (p.Asn1983Lys)
c.4353C>G (p.Asn1451Lys)
n.6489C>G
6g.51912485G>TCA364439769PKHD1c.6213C>A (p.Asn2071Lys)
c.5571C>A (p.Asn1857Lys)
c.5502C>A (p.Asn1834Lys)
c.288C>A (p.Asn96Lys)
c.6138C>A (p.Asn2046Lys)
c.5949C>A (p.Asn1983Lys)
c.4353C>A (p.Asn1451Lys)
n.6489C>A
6g.51912486T>ACA364439770PKHD1c.6212A>T (p.Asn2071Ile)
c.5570A>T (p.Asn1857Ile)
c.5501A>T (p.Asn1834Ile)
c.287A>T (p.Asn96Ile)
c.6137A>T (p.Asn2046Ile)
c.5948A>T (p.Asn1983Ile)
c.4352A>T (p.Asn1451Ile)
n.6488A>T
6g.51912486T>CCA364439772PKHD1c.6212A>G (p.Asn2071Ser)
c.5570A>G (p.Asn1857Ser)
c.5501A>G (p.Asn1834Ser)
c.287A>G (p.Asn96Ser)
c.6137A>G (p.Asn2046Ser)
c.5948A>G (p.Asn1983Ser)
c.4352A>G (p.Asn1451Ser)
n.6488A>G
6g.51912486T>GCA364439773PKHD1c.6212A>C (p.Asn2071Thr)
c.5570A>C (p.Asn1857Thr)
c.5501A>C (p.Asn1834Thr)
c.287A>C (p.Asn96Thr)
c.6137A>C (p.Asn2046Thr)
c.5948A>C (p.Asn1983Thr)
c.4352A>C (p.Asn1451Thr)
n.6488A>C
6g.51912487T>ACA364439776PKHD1c.6211A>T (p.Asn2071Tyr)
c.5569A>T (p.Asn1857Tyr)
c.5500A>T (p.Asn1834Tyr)
c.286A>T (p.Asn96Tyr)
c.6136A>T (p.Asn2046Tyr)
c.5947A>T (p.Asn1983Tyr)
c.4351A>T (p.Asn1451Tyr)
n.6487A>T
 gnomAD v4
6g.51912487T>CCA364439778PKHD1c.6211A>G (p.Asn2071Asp)
c.5569A>G (p.Asn1857Asp)
c.5500A>G (p.Asn1834Asp)
c.286A>G (p.Asn96Asp)
c.6136A>G (p.Asn2046Asp)
c.5947A>G (p.Asn1983Asp)
c.4351A>G (p.Asn1451Asp)
n.6487A>G
6g.51912487T>GCA3852313PKHD1c.6211A>C (p.Asn2071His)
c.5569A>C (p.Asn1857His)
c.5500A>C (p.Asn1834His)
c.286A>C (p.Asn96His)
c.6136A>C (p.Asn2046His)
c.5947A>C (p.Asn1983His)
c.4351A>C (p.Asn1451His)
n.6487A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912487T=CA1628583427PKHD1c.6211A= (p.Asn2071=)
c.5569A= (p.Asn1857=)
c.5500A= (p.Asn1834=)
c.286A= (p.Asn96=)
c.6136A= (p.Asn2046=)
c.5947A= (p.Asn1983=)
c.4351A= (p.Asn1451=)
n.6487A=
6g.51912488C>ACA364439784PKHD1c.6210G>T (p.Trp2070Cys)
c.5568G>T (p.Trp1856Cys)
c.5499G>T (p.Trp1833Cys)
c.285G>T (p.Trp95Cys)
c.6135G>T (p.Trp2045Cys)
c.5946G>T (p.Trp1982Cys)
c.4350G>T (p.Trp1450Cys)
n.6486G>T
6g.51912488C>GCA364439786PKHD1c.6210G>C (p.Trp2070Cys)
c.5568G>C (p.Trp1856Cys)
c.5499G>C (p.Trp1833Cys)
c.285G>C (p.Trp95Cys)
c.6135G>C (p.Trp2045Cys)
c.5946G>C (p.Trp1982Cys)
c.4350G>C (p.Trp1450Cys)
n.6486G>C
6g.51912488C>TCA364439787PKHD1c.6210G>A (p.Trp2070Ter)
c.5568G>A (p.Trp1856Ter)
c.5499G>A (p.Trp1833Ter)
c.285G>A (p.Trp95Ter)
c.6135G>A (p.Trp2045Ter)
c.5946G>A (p.Trp1982Ter)
c.4350G>A (p.Trp1450Ter)
n.6486G>A
 ClinVar
6g.51912489dupCA138910847PKHD1c.6210dup (p.Asn2071GlufsTer5)
c.5568dup (p.Asn1857GlufsTer5)
c.5499dup (p.Asn1834GlufsTer5)
c.285dup (p.Asn96GlufsTer5)
c.6135dup (p.Asn2046GlufsTer5)
c.5946dup (p.Asn1983GlufsTer5)
c.4350dup (p.Asn1451GlufsTer5)
n.6486dup
 dbSNP
6g.51912489C>ACA364439794PKHD1c.6209G>T (p.Trp2070Leu)
c.5567G>T (p.Trp1856Leu)
c.5498G>T (p.Trp1833Leu)
c.284G>T (p.Trp95Leu)
c.6134G>T (p.Trp2045Leu)
c.5945G>T (p.Trp1982Leu)
c.4349G>T (p.Trp1450Leu)
n.6485G>T
6g.51912489C>GCA364439790PKHD1c.6209G>C (p.Trp2070Ser)
c.5567G>C (p.Trp1856Ser)
c.5498G>C (p.Trp1833Ser)
c.284G>C (p.Trp95Ser)
c.6134G>C (p.Trp2045Ser)
c.5945G>C (p.Trp1982Ser)
c.4349G>C (p.Trp1450Ser)
n.6485G>C
6g.51912489C>TCA364439792PKHD1c.6209G>A (p.Trp2070Ter)
c.5567G>A (p.Trp1856Ter)
c.5498G>A (p.Trp1833Ter)
c.284G>A (p.Trp95Ter)
c.6134G>A (p.Trp2045Ter)
c.5945G>A (p.Trp1982Ter)
c.4349G>A (p.Trp1450Ter)
n.6485G>A
 ClinVar
6g.51912490A>CCA364439797PKHD1c.6208T>G (p.Trp2070Gly)
c.5566T>G (p.Trp1856Gly)
c.5497T>G (p.Trp1833Gly)
c.283T>G (p.Trp95Gly)
c.6133T>G (p.Trp2045Gly)
c.5944T>G (p.Trp1982Gly)
c.4348T>G (p.Trp1450Gly)
n.6484T>G
6g.51912490A>GCA364439798PKHD1c.6208T>C (p.Trp2070Arg)
c.5566T>C (p.Trp1856Arg)
c.5497T>C (p.Trp1833Arg)
c.283T>C (p.Trp95Arg)
c.6133T>C (p.Trp2045Arg)
c.5944T>C (p.Trp1982Arg)
c.4348T>C (p.Trp1450Arg)
n.6484T>C
6g.51912490A>TCA364439800PKHD1c.6208T>A (p.Trp2070Arg)
c.5566T>A (p.Trp1856Arg)
c.5497T>A (p.Trp1833Arg)
c.283T>A (p.Trp95Arg)
c.6133T>A (p.Trp2045Arg)
c.5944T>A (p.Trp1982Arg)
c.4348T>A (p.Trp1450Arg)
n.6484T>A
6g.51912491G>ACA450415991PKHD1c.6207C>T (p.Asp2069=)
c.5565C>T (p.Asp1855=)
c.5496C>T (p.Asp1832=)
c.282C>T (p.Asp94=)
c.6132C>T (p.Asp2044=)
c.5943C>T (p.Asp1981=)
c.4347C>T (p.Asp1449=)
n.6483C>T
6g.51912491G>CCA364439802PKHD1c.6207C>G (p.Asp2069Glu)
c.5565C>G (p.Asp1855Glu)
c.5496C>G (p.Asp1832Glu)
c.282C>G (p.Asp94Glu)
c.6132C>G (p.Asp2044Glu)
c.5943C>G (p.Asp1981Glu)
c.4347C>G (p.Asp1449Glu)
n.6483C>G
 dbSNP gnomAD v2 gnomAD v4
6g.51912491G=CA1628583434PKHD1c.6207C= (p.Asp2069=)
c.5565C= (p.Asp1855=)
c.5496C= (p.Asp1832=)
c.282C= (p.Asp94=)
c.6132C= (p.Asp2044=)
c.5943C= (p.Asp1981=)
c.4347C= (p.Asp1449=)
n.6483C=
6g.51912491G>TCA364439804PKHD1c.6207C>A (p.Asp2069Glu)
c.5565C>A (p.Asp1855Glu)
c.5496C>A (p.Asp1832Glu)
c.282C>A (p.Asp94Glu)
c.6132C>A (p.Asp2044Glu)
c.5943C>A (p.Asp1981Glu)
c.4347C>A (p.Asp1449Glu)
n.6483C>A
6g.51912492T>ACA364439807PKHD1c.6206A>T (p.Asp2069Val)
c.5564A>T (p.Asp1855Val)
c.5495A>T (p.Asp1832Val)
c.281A>T (p.Asp94Val)
c.6131A>T (p.Asp2044Val)
c.5942A>T (p.Asp1981Val)
c.4346A>T (p.Asp1449Val)
n.6482A>T
6g.51912492T>CCA364439809PKHD1c.6206A>G (p.Asp2069Gly)
c.5564A>G (p.Asp1855Gly)
c.5495A>G (p.Asp1832Gly)
c.281A>G (p.Asp94Gly)
c.6131A>G (p.Asp2044Gly)
c.5942A>G (p.Asp1981Gly)
c.4346A>G (p.Asp1449Gly)
n.6482A>G
6g.51912492T>GCA364439812PKHD1c.6206A>C (p.Asp2069Ala)
c.5564A>C (p.Asp1855Ala)
c.5495A>C (p.Asp1832Ala)
c.281A>C (p.Asp94Ala)
c.6131A>C (p.Asp2044Ala)
c.5942A>C (p.Asp1981Ala)
c.4346A>C (p.Asp1449Ala)
n.6482A>C
6g.51912493C>ACA364439815PKHD1c.6205G>T (p.Asp2069Tyr)
c.5563G>T (p.Asp1855Tyr)
c.5494G>T (p.Asp1832Tyr)
c.280G>T (p.Asp94Tyr)
c.6130G>T (p.Asp2044Tyr)
c.5941G>T (p.Asp1981Tyr)
c.4345G>T (p.Asp1449Tyr)
n.6481G>T
6g.51912493C>GCA364439817PKHD1c.6205G>C (p.Asp2069His)
c.5563G>C (p.Asp1855His)
c.5494G>C (p.Asp1832His)
c.280G>C (p.Asp94His)
c.6130G>C (p.Asp2044His)
c.5941G>C (p.Asp1981His)
c.4345G>C (p.Asp1449His)
n.6481G>C
6g.51912493C>TCA364439819PKHD1c.6205G>A (p.Asp2069Asn)
c.5563G>A (p.Asp1855Asn)
c.5494G>A (p.Asp1832Asn)
c.280G>A (p.Asp94Asn)
c.6130G>A (p.Asp2044Asn)
c.5941G>A (p.Asp1981Asn)
c.4345G>A (p.Asp1449Asn)
n.6481G>A
6g.51912493_51912494delinsAACA645561176PKHD1c.6204_6205delinsTT (p.Asp2069Tyr)
c.5562_5563delinsTT (p.Asp1855Tyr)
c.5493_5494delinsTT (p.Asp1832Tyr)
c.279_280delinsTT (p.Asp94Tyr)
c.6129_6130delinsTT (p.Asp2044Tyr)
c.5940_5941delinsTT (p.Asp1981Tyr)
c.4344_4345delinsTT (p.Asp1449Tyr)
n.6480_6481delinsTT
 COSMIC COSMIC
6g.51912494C>ACA450415992PKHD1c.6204G>T (p.Val2068=)
c.5562G>T (p.Val1854=)
c.5493G>T (p.Val1831=)
c.279G>T (p.Val93=)
c.6129G>T (p.Val2043=)
c.5940G>T (p.Val1980=)
c.4344G>T (p.Val1448=)
n.6480G>T
6g.51912494C>GCA450415994PKHD1c.6204G>C (p.Val2068=)
c.5562G>C (p.Val1854=)
c.5493G>C (p.Val1831=)
c.279G>C (p.Val93=)
c.6129G>C (p.Val2043=)
c.5940G>C (p.Val1980=)
c.4344G>C (p.Val1448=)
n.6480G>C
6g.51912494C>TCA450415993PKHD1c.6204G>A (p.Val2068=)
c.5562G>A (p.Val1854=)
c.5493G>A (p.Val1831=)
c.279G>A (p.Val93=)
c.6129G>A (p.Val2043=)
c.5940G>A (p.Val1980=)
c.4344G>A (p.Val1448=)
n.6480G>A
6g.51912495A>CCA364439823PKHD1c.6203T>G (p.Val2068Gly)
c.5561T>G (p.Val1854Gly)
c.5492T>G (p.Val1831Gly)
c.278T>G (p.Val93Gly)
c.6128T>G (p.Val2043Gly)
c.5939T>G (p.Val1980Gly)
c.4343T>G (p.Val1448Gly)
n.6479T>G
6g.51912495A>GCA364439822PKHD1c.6203T>C (p.Val2068Ala)
c.5561T>C (p.Val1854Ala)
c.5492T>C (p.Val1831Ala)
c.278T>C (p.Val93Ala)
c.6128T>C (p.Val2043Ala)
c.5939T>C (p.Val1980Ala)
c.4343T>C (p.Val1448Ala)
n.6479T>C
6g.51912495A>TCA364439821PKHD1c.6203T>A (p.Val2068Glu)
c.5561T>A (p.Val1854Glu)
c.5492T>A (p.Val1831Glu)
c.278T>A (p.Val93Glu)
c.6128T>A (p.Val2043Glu)
c.5939T>A (p.Val1980Glu)
c.4343T>A (p.Val1448Glu)
n.6479T>A
6g.51912496C>ACA364439824PKHD1c.6202G>T (p.Val2068Leu)
c.5560G>T (p.Val1854Leu)
c.5491G>T (p.Val1831Leu)
c.277G>T (p.Val93Leu)
c.6127G>T (p.Val2043Leu)
c.5938G>T (p.Val1980Leu)
c.4342G>T (p.Val1448Leu)
n.6478G>T
6g.51912496C>GCA364439825PKHD1c.6202G>C (p.Val2068Leu)
c.5560G>C (p.Val1854Leu)
c.5491G>C (p.Val1831Leu)
c.277G>C (p.Val93Leu)
c.6127G>C (p.Val2043Leu)
c.5938G>C (p.Val1980Leu)
c.4342G>C (p.Val1448Leu)
n.6478G>C
6g.51912496C>TCA364439826PKHD1c.6202G>A (p.Val2068Met)
c.5560G>A (p.Val1854Met)
c.5491G>A (p.Val1831Met)
c.277G>A (p.Val93Met)
c.6127G>A (p.Val2043Met)
c.5938G>A (p.Val1980Met)
c.4342G>A (p.Val1448Met)
n.6478G>A
6g.51912497A>CCA450415995PKHD1c.6201T>G (p.Ala2067=)
c.5559T>G (p.Ala1853=)
c.5490T>G (p.Ala1830=)
c.276T>G (p.Ala92=)
c.6126T>G (p.Ala2042=)
c.5937T>G (p.Ala1979=)
c.4341T>G (p.Ala1447=)
n.6477T>G
6g.51912497A>GCA450415996PKHD1c.6201T>C (p.Ala2067=)
c.5559T>C (p.Ala1853=)
c.5490T>C (p.Ala1830=)
c.276T>C (p.Ala92=)
c.6126T>C (p.Ala2042=)
c.5937T>C (p.Ala1979=)
c.4341T>C (p.Ala1447=)
n.6477T>C
6g.51912497A>TCA450415997PKHD1c.6201T>A (p.Ala2067=)
c.5559T>A (p.Ala1853=)
c.5490T>A (p.Ala1830=)
c.276T>A (p.Ala92=)
c.6126T>A (p.Ala2042=)
c.5937T>A (p.Ala1979=)
c.4341T>A (p.Ala1447=)
n.6477T>A
 ClinVar
6g.51912498G>ACA364439827PKHD1c.6200C>T (p.Ala2067Val)
c.5558C>T (p.Ala1853Val)
c.5489C>T (p.Ala1830Val)
c.275C>T (p.Ala92Val)
c.6125C>T (p.Ala2042Val)
c.5936C>T (p.Ala1979Val)
c.4340C>T (p.Ala1447Val)
n.6476C>T
6g.51912498G>CCA364439828PKHD1c.6200C>G (p.Ala2067Gly)
c.5558C>G (p.Ala1853Gly)
c.5489C>G (p.Ala1830Gly)
c.275C>G (p.Ala92Gly)
c.6125C>G (p.Ala2042Gly)
c.5936C>G (p.Ala1979Gly)
c.4340C>G (p.Ala1447Gly)
n.6476C>G
 gnomAD v4
6g.51912498G>TCA364439829PKHD1c.6200C>A (p.Ala2067Asp)
c.5558C>A (p.Ala1853Asp)
c.5489C>A (p.Ala1830Asp)
c.275C>A (p.Ala92Asp)
c.6125C>A (p.Ala2042Asp)
c.5936C>A (p.Ala1979Asp)
c.4340C>A (p.Ala1447Asp)
n.6476C>A
6g.51912499C>ACA364439832PKHD1c.6199G>T (p.Ala2067Ser)
c.5557G>T (p.Ala1853Ser)
c.5488G>T (p.Ala1830Ser)
c.274G>T (p.Ala92Ser)
c.6124G>T (p.Ala2042Ser)
c.5935G>T (p.Ala1979Ser)
c.4339G>T (p.Ala1447Ser)
n.6475G>T
6g.51912499C>GCA364439830PKHD1c.6199G>C (p.Ala2067Pro)
c.5557G>C (p.Ala1853Pro)
c.5488G>C (p.Ala1830Pro)
c.274G>C (p.Ala92Pro)
c.6124G>C (p.Ala2042Pro)
c.5935G>C (p.Ala1979Pro)
c.4339G>C (p.Ala1447Pro)
n.6475G>C
6g.51912499C>TCA364439831PKHD1c.6199G>A (p.Ala2067Thr)
c.5557G>A (p.Ala1853Thr)
c.5488G>A (p.Ala1830Thr)
c.274G>A (p.Ala92Thr)
c.6124G>A (p.Ala2042Thr)
c.5935G>A (p.Ala1979Thr)
c.4339G>A (p.Ala1447Thr)
n.6475G>A
6g.51912500A>CCA364439833PKHD1c.6198T>G (p.Asp2066Glu)
c.5556T>G (p.Asp1852Glu)
c.5487T>G (p.Asp1829Glu)
c.273T>G (p.Asp91Glu)
c.6123T>G (p.Asp2041Glu)
c.5934T>G (p.Asp1978Glu)
c.4338T>G (p.Asp1446Glu)
n.6474T>G
 gnomAD v4
6g.51912500A>GCA450415998PKHD1c.6198T>C (p.Asp2066=)
c.5556T>C (p.Asp1852=)
c.5487T>C (p.Asp1829=)
c.273T>C (p.Asp91=)
c.6123T>C (p.Asp2041=)
c.5934T>C (p.Asp1978=)
c.4338T>C (p.Asp1446=)
n.6474T>C
6g.51912500A>TCA364439834PKHD1c.6198T>A (p.Asp2066Glu)
c.5556T>A (p.Asp1852Glu)
c.5487T>A (p.Asp1829Glu)
c.273T>A (p.Asp91Glu)
c.6123T>A (p.Asp2041Glu)
c.5934T>A (p.Asp1978Glu)
c.4338T>A (p.Asp1446Glu)
n.6474T>A
6g.51912501T>ACA364439835PKHD1c.6197A>T (p.Asp2066Val)
c.5555A>T (p.Asp1852Val)
c.5486A>T (p.Asp1829Val)
c.272A>T (p.Asp91Val)
c.6122A>T (p.Asp2041Val)
c.5933A>T (p.Asp1978Val)
c.4337A>T (p.Asp1446Val)
n.6473A>T
 gnomAD v4
6g.51912501T>CCA364439836PKHD1c.6197A>G (p.Asp2066Gly)
c.5555A>G (p.Asp1852Gly)
c.5486A>G (p.Asp1829Gly)
c.272A>G (p.Asp91Gly)
c.6122A>G (p.Asp2041Gly)
c.5933A>G (p.Asp1978Gly)
c.4337A>G (p.Asp1446Gly)
n.6473A>G
6g.51912501T>GCA364439837PKHD1c.6197A>C (p.Asp2066Ala)
c.5555A>C (p.Asp1852Ala)
c.5486A>C (p.Asp1829Ala)
c.272A>C (p.Asp91Ala)
c.6122A>C (p.Asp2041Ala)
c.5933A>C (p.Asp1978Ala)
c.4337A>C (p.Asp1446Ala)
n.6473A>C
6g.51912502C>ACA364439838PKHD1c.6196G>T (p.Asp2066Tyr)
c.5554G>T (p.Asp1852Tyr)
c.5485G>T (p.Asp1829Tyr)
c.271G>T (p.Asp91Tyr)
c.6121G>T (p.Asp2041Tyr)
c.5932G>T (p.Asp1978Tyr)
c.4336G>T (p.Asp1446Tyr)
n.6472G>T
6g.51912502C>GCA364439840PKHD1c.6196G>C (p.Asp2066His)
c.5554G>C (p.Asp1852His)
c.5485G>C (p.Asp1829His)
c.271G>C (p.Asp91His)
c.6121G>C (p.Asp2041His)
c.5932G>C (p.Asp1978His)
c.4336G>C (p.Asp1446His)
n.6472G>C
6g.51912502C>TCA364439839PKHD1c.6196G>A (p.Asp2066Asn)
c.5554G>A (p.Asp1852Asn)
c.5485G>A (p.Asp1829Asn)
c.271G>A (p.Asp91Asn)
c.6121G>A (p.Asp2041Asn)
c.5932G>A (p.Asp1978Asn)
c.4336G>A (p.Asp1446Asn)
n.6472G>A
6g.51912503T>ACA364439841PKHD1c.6195A>T (p.Glu2065Asp)
c.5553A>T (p.Glu1851Asp)
c.5484A>T (p.Glu1828Asp)
c.270A>T (p.Glu90Asp)
c.6120A>T (p.Glu2040Asp)
c.5931A>T (p.Glu1977Asp)
c.4335A>T (p.Glu1445Asp)
n.6471A>T
6g.51912503T>CCA450415999PKHD1c.6195A>G (p.Glu2065=)
c.5553A>G (p.Glu1851=)
c.5484A>G (p.Glu1828=)
c.270A>G (p.Glu90=)
c.6120A>G (p.Glu2040=)
c.5931A>G (p.Glu1977=)
c.4335A>G (p.Glu1445=)
n.6471A>G
6g.51912503T>GCA364439842PKHD1c.6195A>C (p.Glu2065Asp)
c.5553A>C (p.Glu1851Asp)
c.5484A>C (p.Glu1828Asp)
c.270A>C (p.Glu90Asp)
c.6120A>C (p.Glu2040Asp)
c.5931A>C (p.Glu1977Asp)
c.4335A>C (p.Glu1445Asp)
n.6471A>C
6g.51912504T>ACA364439843PKHD1c.6194A>T (p.Glu2065Val)
c.5552A>T (p.Glu1851Val)
c.5483A>T (p.Glu1828Val)
c.269A>T (p.Glu90Val)
c.6119A>T (p.Glu2040Val)
c.5930A>T (p.Glu1977Val)
c.4334A>T (p.Glu1445Val)
n.6470A>T
6g.51912504T>CCA364439844PKHD1c.6194A>G (p.Glu2065Gly)
c.5552A>G (p.Glu1851Gly)
c.5483A>G (p.Glu1828Gly)
c.269A>G (p.Glu90Gly)
c.6119A>G (p.Glu2040Gly)
c.5930A>G (p.Glu1977Gly)
c.4334A>G (p.Glu1445Gly)
n.6470A>G
6g.51912504T>GCA364439845PKHD1c.6194A>C (p.Glu2065Ala)
c.5552A>C (p.Glu1851Ala)
c.5483A>C (p.Glu1828Ala)
c.269A>C (p.Glu90Ala)
c.6119A>C (p.Glu2040Ala)
c.5930A>C (p.Glu1977Ala)
c.4334A>C (p.Glu1445Ala)
n.6470A>C
6g.51912505C>ACA364439846PKHD1c.6193G>T (p.Glu2065Ter)
c.5551G>T (p.Glu1851Ter)
c.5482G>T (p.Glu1828Ter)
c.268G>T (p.Glu90Ter)
c.6118G>T (p.Glu2040Ter)
c.5929G>T (p.Glu1977Ter)
c.4333G>T (p.Glu1445Ter)
n.6469G>T
6g.51912505C>GCA364439847PKHD1c.6193G>C (p.Glu2065Gln)
c.5551G>C (p.Glu1851Gln)
c.5482G>C (p.Glu1828Gln)
c.268G>C (p.Glu90Gln)
c.6118G>C (p.Glu2040Gln)
c.5929G>C (p.Glu1977Gln)
c.4333G>C (p.Glu1445Gln)
n.6469G>C
 dbSNP
6g.51912505C>TCA364439848PKHD1c.6193G>A (p.Glu2065Lys)
c.5551G>A (p.Glu1851Lys)
c.5482G>A (p.Glu1828Lys)
c.268G>A (p.Glu90Lys)
c.6118G>A (p.Glu2040Lys)
c.5929G>A (p.Glu1977Lys)
c.4333G>A (p.Glu1445Lys)
n.6469G>A
6g.51912506T>ACA364439849PKHD1c.6192A>T (p.Leu2064Phe)
c.5550A>T (p.Leu1850Phe)
c.5481A>T (p.Leu1827Phe)
c.267A>T (p.Leu89Phe)
c.6117A>T (p.Leu2039Phe)
c.5928A>T (p.Leu1976Phe)
c.4332A>T (p.Leu1444Phe)
n.6468A>T
6g.51912506T>CCA450416000PKHD1c.6192A>G (p.Leu2064=)
c.5550A>G (p.Leu1850=)
c.5481A>G (p.Leu1827=)
c.267A>G (p.Leu89=)
c.6117A>G (p.Leu2039=)
c.5928A>G (p.Leu1976=)
c.4332A>G (p.Leu1444=)
n.6468A>G
6g.51912506T>GCA364439850PKHD1c.6192A>C (p.Leu2064Phe)
c.5550A>C (p.Leu1850Phe)
c.5481A>C (p.Leu1827Phe)
c.267A>C (p.Leu89Phe)
c.6117A>C (p.Leu2039Phe)
c.5928A>C (p.Leu1976Phe)
c.4332A>C (p.Leu1444Phe)
n.6468A>C
6g.51912507A>CCA364439853PKHD1c.6191T>G (p.Leu2064Ter)
c.5549T>G (p.Leu1850Ter)
c.5480T>G (p.Leu1827Ter)
c.266T>G (p.Leu89Ter)
c.6116T>G (p.Leu2039Ter)
c.5927T>G (p.Leu1976Ter)
c.4331T>G (p.Leu1444Ter)
n.6467T>G
6g.51912507A>GCA364439852PKHD1c.6191T>C (p.Leu2064Ser)
c.5549T>C (p.Leu1850Ser)
c.5480T>C (p.Leu1827Ser)
c.266T>C (p.Leu89Ser)
c.6116T>C (p.Leu2039Ser)
c.5927T>C (p.Leu1976Ser)
c.4331T>C (p.Leu1444Ser)
n.6467T>C
6g.51912507A>TCA364439851PKHD1c.6191T>A (p.Leu2064Ter)
c.5549T>A (p.Leu1850Ter)
c.5480T>A (p.Leu1827Ter)
c.266T>A (p.Leu89Ter)
c.6116T>A (p.Leu2039Ter)
c.5927T>A (p.Leu1976Ter)
c.4331T>A (p.Leu1444Ter)
n.6467T>A
6g.51912508A>CCA364439854PKHD1c.6190T>G (p.Leu2064Val)
c.5548T>G (p.Leu1850Val)
c.5479T>G (p.Leu1827Val)
c.265T>G (p.Leu89Val)
c.6115T>G (p.Leu2039Val)
c.5926T>G (p.Leu1976Val)
c.4330T>G (p.Leu1444Val)
n.6466T>G
6g.51912508A>GCA450416001PKHD1c.6190T>C (p.Leu2064=)
c.5548T>C (p.Leu1850=)
c.5479T>C (p.Leu1827=)
c.265T>C (p.Leu89=)
c.6115T>C (p.Leu2039=)
c.5926T>C (p.Leu1976=)
c.4330T>C (p.Leu1444=)
n.6466T>C
6g.51912508A>TCA364439855PKHD1c.6190T>A (p.Leu2064Ile)
c.5548T>A (p.Leu1850Ile)
c.5479T>A (p.Leu1827Ile)
c.265T>A (p.Leu89Ile)
c.6115T>A (p.Leu2039Ile)
c.5926T>A (p.Leu1976Ile)
c.4330T>A (p.Leu1444Ile)
n.6466T>A
6g.51912509A=CA1628583438PKHD1c.6189T= (p.Ala2063=)
c.5547T= (p.Ala1849=)
c.5478T= (p.Ala1826=)
c.264T= (p.Ala88=)
c.6114T= (p.Ala2038=)
c.5925T= (p.Ala1975=)
c.4329T= (p.Ala1443=)
n.6465T=
6g.51912509A>CCA450416002PKHD1c.6189T>G (p.Ala2063=)
c.5547T>G (p.Ala1849=)
c.5478T>G (p.Ala1826=)
c.264T>G (p.Ala88=)
c.6114T>G (p.Ala2038=)
c.5925T>G (p.Ala1975=)
c.4329T>G (p.Ala1443=)
n.6465T>G
6g.51912509A>GCA450416003PKHD1c.6189T>C (p.Ala2063=)
c.5547T>C (p.Ala1849=)
c.5478T>C (p.Ala1826=)
c.264T>C (p.Ala88=)
c.6114T>C (p.Ala2038=)
c.5925T>C (p.Ala1975=)
c.4329T>C (p.Ala1443=)
n.6465T>C
6g.51912509A>TCA3852314PKHD1c.6189T>A (p.Ala2063=)
c.5547T>A (p.Ala1849=)
c.5478T>A (p.Ala1826=)
c.264T>A (p.Ala88=)
c.6114T>A (p.Ala2038=)
c.5925T>A (p.Ala1975=)
c.4329T>A (p.Ala1443=)
n.6465T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51912510G>ACA364439856PKHD1c.6188C>T (p.Ala2063Val)
c.5546C>T (p.Ala1849Val)
c.5477C>T (p.Ala1826Val)
c.263C>T (p.Ala88Val)
c.6113C>T (p.Ala2038Val)
c.5924C>T (p.Ala1975Val)
c.4328C>T (p.Ala1443Val)
n.6464C>T
 gnomAD v4
6g.51912510G>CCA3852315PKHD1c.6188C>G (p.Ala2063Gly)
c.5546C>G (p.Ala1849Gly)
c.5477C>G (p.Ala1826Gly)
c.263C>G (p.Ala88Gly)
c.6113C>G (p.Ala2038Gly)
c.5924C>G (p.Ala1975Gly)
c.4328C>G (p.Ala1443Gly)
n.6464C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51912510G=CA1628583444PKHD1c.6188C= (p.Ala2063=)
c.5546C= (p.Ala1849=)
c.5477C= (p.Ala1826=)
c.263C= (p.Ala88=)
c.6113C= (p.Ala2038=)
c.5924C= (p.Ala1975=)
c.4328C= (p.Ala1443=)
n.6464C=
6g.51912510G>TCA364439857PKHD1c.6188C>A (p.Ala2063Asp)
c.5546C>A (p.Ala1849Asp)
c.5477C>A (p.Ala1826Asp)
c.263C>A (p.Ala88Asp)
c.6113C>A (p.Ala2038Asp)
c.5924C>A (p.Ala1975Asp)
c.4328C>A (p.Ala1443Asp)
n.6464C>A
 COSMIC COSMIC
6g.51912511C>ACA364439858PKHD1c.6187G>T (p.Ala2063Ser)
c.5545G>T (p.Ala1849Ser)
c.5476G>T (p.Ala1826Ser)
c.262G>T (p.Ala88Ser)
c.6112G>T (p.Ala2038Ser)
c.5923G>T (p.Ala1975Ser)
c.4327G>T (p.Ala1443Ser)
n.6463G>T
6g.51912511C=CA1628583448PKHD1c.6187G= (p.Ala2063=)
c.5545G= (p.Ala1849=)
c.5476G= (p.Ala1826=)
c.262G= (p.Ala88=)
c.6112G= (p.Ala2038=)
c.5923G= (p.Ala1975=)
c.4327G= (p.Ala1443=)
n.6463G=
6g.51912511C>GCA364439859PKHD1c.6187G>C (p.Ala2063Pro)
c.5545G>C (p.Ala1849Pro)
c.5476G>C (p.Ala1826Pro)
c.262G>C (p.Ala88Pro)
c.6112G>C (p.Ala2038Pro)
c.5923G>C (p.Ala1975Pro)
c.4327G>C (p.Ala1443Pro)
n.6463G>C
6g.51912511C>TCA3852316PKHD1c.6187G>A (p.Ala2063Thr)
c.5545G>A (p.Ala1849Thr)
c.5476G>A (p.Ala1826Thr)
c.262G>A (p.Ala88Thr)
c.6112G>A (p.Ala2038Thr)
c.5923G>A (p.Ala1975Thr)
c.4327G>A (p.Ala1443Thr)
n.6463G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912512delCA2580075501PKHD1c.6187del (p.Ala2063LeufsTer2)
c.5545del (p.Ala1849LeufsTer2)
c.5476del (p.Ala1826LeufsTer2)
c.262del (p.Ala88LeufsTer2)
c.6112del (p.Ala2038LeufsTer2)
c.5923del (p.Ala1975LeufsTer2)
c.4327del (p.Ala1443LeufsTer2)
n.6463del
 ClinVar
6g.51912512C>ACA450416004PKHD1c.6186G>T (p.Leu2062=)
c.5544G>T (p.Leu1848=)
c.5475G>T (p.Leu1825=)
c.261G>T (p.Leu87=)
c.6111G>T (p.Leu2037=)
c.5922G>T (p.Leu1974=)
c.4326G>T (p.Leu1442=)
n.6462G>T
 ClinVar
6g.51912512C>GCA450416005PKHD1c.6186G>C (p.Leu2062=)
c.5544G>C (p.Leu1848=)
c.5475G>C (p.Leu1825=)
c.261G>C (p.Leu87=)
c.6111G>C (p.Leu2037=)
c.5922G>C (p.Leu1974=)
c.4326G>C (p.Leu1442=)
n.6462G>C
6g.51912512C>TCA450416006PKHD1c.6186G>A (p.Leu2062=)
c.5544G>A (p.Leu1848=)
c.5475G>A (p.Leu1825=)
c.261G>A (p.Leu87=)
c.6111G>A (p.Leu2037=)
c.5922G>A (p.Leu1974=)
c.4326G>A (p.Leu1442=)
n.6462G>A
6g.51912513A>CCA364439860PKHD1c.6185T>G (p.Leu2062Arg)
c.5543T>G (p.Leu1848Arg)
c.5474T>G (p.Leu1825Arg)
c.260T>G (p.Leu87Arg)
c.6110T>G (p.Leu2037Arg)
c.5921T>G (p.Leu1974Arg)
c.4325T>G (p.Leu1442Arg)
n.6461T>G
6g.51912513A>GCA364439861PKHD1c.6185T>C (p.Leu2062Pro)
c.5543T>C (p.Leu1848Pro)
c.5474T>C (p.Leu1825Pro)
c.260T>C (p.Leu87Pro)
c.6110T>C (p.Leu2037Pro)
c.5921T>C (p.Leu1974Pro)
c.4325T>C (p.Leu1442Pro)
n.6461T>C
6g.51912513A>TCA364439862PKHD1c.6185T>A (p.Leu2062Gln)
c.5543T>A (p.Leu1848Gln)
c.5474T>A (p.Leu1825Gln)
c.260T>A (p.Leu87Gln)
c.6110T>A (p.Leu2037Gln)
c.5921T>A (p.Leu1974Gln)
c.4325T>A (p.Leu1442Gln)
n.6461T>A
6g.51912514G>ACA3852317PKHD1c.6184C>T (p.Leu2062=)
c.5542C>T (p.Leu1848=)
c.5473C>T (p.Leu1825=)
c.259C>T (p.Leu87=)
c.6109C>T (p.Leu2037=)
c.5920C>T (p.Leu1974=)
c.4324C>T (p.Leu1442=)
n.6460C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912514G>CCA364439863PKHD1c.6184C>G (p.Leu2062Val)
c.5542C>G (p.Leu1848Val)
c.5473C>G (p.Leu1825Val)
c.259C>G (p.Leu87Val)
c.6109C>G (p.Leu2037Val)
c.5920C>G (p.Leu1974Val)
c.4324C>G (p.Leu1442Val)
n.6460C>G
6g.51912514G=CA1628583454PKHD1c.6184C= (p.Leu2062=)
c.5542C= (p.Leu1848=)
c.5473C= (p.Leu1825=)
c.259C= (p.Leu87=)
c.6109C= (p.Leu2037=)
c.5920C= (p.Leu1974=)
c.4324C= (p.Leu1442=)
n.6460C=
6g.51912514G>TCA364439864PKHD1c.6184C>A (p.Leu2062Met)
c.5542C>A (p.Leu1848Met)
c.5473C>A (p.Leu1825Met)
c.259C>A (p.Leu87Met)
c.6109C>A (p.Leu2037Met)
c.5920C>A (p.Leu1974Met)
c.4324C>A (p.Leu1442Met)
n.6460C>A
 COSMIC COSMIC
6g.51912515C>ACA450416009PKHD1c.6183G>T (p.Val2061=)
c.5541G>T (p.Val1847=)
c.5472G>T (p.Val1824=)
c.258G>T (p.Val86=)
c.6108G>T (p.Val2036=)
c.5919G>T (p.Val1973=)
c.4323G>T (p.Val1441=)
n.6459G>T
 dbSNP gnomAD v3 gnomAD v4
6g.51912515C=CA1628583460PKHD1c.6183G= (p.Val2061=)
c.5541G= (p.Val1847=)
c.5472G= (p.Val1824=)
c.258G= (p.Val86=)
c.6108G= (p.Val2036=)
c.5919G= (p.Val1973=)
c.4323G= (p.Val1441=)
n.6459G=
6g.51912515C>GCA450416008PKHD1c.6183G>C (p.Val2061=)
c.5541G>C (p.Val1847=)
c.5472G>C (p.Val1824=)
c.258G>C (p.Val86=)
c.6108G>C (p.Val2036=)
c.5919G>C (p.Val1973=)
c.4323G>C (p.Val1441=)
n.6459G>C
6g.51912515C>TCA450416007PKHD1c.6183G>A (p.Val2061=)
c.5541G>A (p.Val1847=)
c.5472G>A (p.Val1824=)
c.258G>A (p.Val86=)
c.6108G>A (p.Val2036=)
c.5919G>A (p.Val1973=)
c.4323G>A (p.Val1441=)
n.6459G>A
 ClinVar
6g.51912516A>CCA364439865PKHD1c.6182T>G (p.Val2061Gly)
c.5540T>G (p.Val1847Gly)
c.5471T>G (p.Val1824Gly)
c.257T>G (p.Val86Gly)
c.6107T>G (p.Val2036Gly)
c.5918T>G (p.Val1973Gly)
c.4322T>G (p.Val1441Gly)
n.6458T>G
6g.51912516A>GCA364439866PKHD1c.6182T>C (p.Val2061Ala)
c.5540T>C (p.Val1847Ala)
c.5471T>C (p.Val1824Ala)
c.257T>C (p.Val86Ala)
c.6107T>C (p.Val2036Ala)
c.5918T>C (p.Val1973Ala)
c.4322T>C (p.Val1441Ala)
n.6458T>C
6g.51912516A>TCA364439867PKHD1c.6182T>A (p.Val2061Glu)
c.5540T>A (p.Val1847Glu)
c.5471T>A (p.Val1824Glu)
c.257T>A (p.Val86Glu)
c.6107T>A (p.Val2036Glu)
c.5918T>A (p.Val1973Glu)
c.4322T>A (p.Val1441Glu)
n.6458T>A
6g.51912517C>ACA364439870PKHD1c.6181G>T (p.Val2061Leu)
c.5539G>T (p.Val1847Leu)
c.5470G>T (p.Val1824Leu)
c.256G>T (p.Val86Leu)
c.6106G>T (p.Val2036Leu)
c.5917G>T (p.Val1973Leu)
c.4321G>T (p.Val1441Leu)
n.6457G>T
6g.51912517C>GCA364439868PKHD1c.6181G>C (p.Val2061Leu)
c.5539G>C (p.Val1847Leu)
c.5470G>C (p.Val1824Leu)
c.256G>C (p.Val86Leu)
c.6106G>C (p.Val2036Leu)
c.5917G>C (p.Val1973Leu)
c.4321G>C (p.Val1441Leu)
n.6457G>C
6g.51912517C>TCA364439869PKHD1c.6181G>A (p.Val2061Met)
c.5539G>A (p.Val1847Met)
c.5470G>A (p.Val1824Met)
c.256G>A (p.Val86Met)
c.6106G>A (p.Val2036Met)
c.5917G>A (p.Val1973Met)
c.4321G>A (p.Val1441Met)
n.6457G>A
6g.51912518T>ACA450416010PKHD1c.6180A>T (p.Thr2060=)
c.5538A>T (p.Thr1846=)
c.5469A>T (p.Thr1823=)
c.255A>T (p.Thr85=)
c.6105A>T (p.Thr2035=)
c.5916A>T (p.Thr1972=)
c.4320A>T (p.Thr1440=)
n.6456A>T
6g.51912518T>CCA450416011PKHD1c.6180A>G (p.Thr2060=)
c.5538A>G (p.Thr1846=)
c.5469A>G (p.Thr1823=)
c.255A>G (p.Thr85=)
c.6105A>G (p.Thr2035=)
c.5916A>G (p.Thr1972=)
c.4320A>G (p.Thr1440=)
n.6456A>G
6g.51912518T>GCA450416012PKHD1c.6180A>C (p.Thr2060=)
c.5538A>C (p.Thr1846=)
c.5469A>C (p.Thr1823=)
c.255A>C (p.Thr85=)
c.6105A>C (p.Thr2035=)
c.5916A>C (p.Thr1972=)
c.4320A>C (p.Thr1440=)
n.6456A>C
6g.51912519G>ACA364439871PKHD1c.6179C>T (p.Thr2060Ile)
c.5537C>T (p.Thr1846Ile)
c.5468C>T (p.Thr1823Ile)
c.254C>T (p.Thr85Ile)
c.6104C>T (p.Thr2035Ile)
c.5915C>T (p.Thr1972Ile)
c.4319C>T (p.Thr1440Ile)
n.6455C>T
6g.51912519G>CCA364439872PKHD1c.6179C>G (p.Thr2060Arg)
c.5537C>G (p.Thr1846Arg)
c.5468C>G (p.Thr1823Arg)
c.254C>G (p.Thr85Arg)
c.6104C>G (p.Thr2035Arg)
c.5915C>G (p.Thr1972Arg)
c.4319C>G (p.Thr1440Arg)
n.6455C>G
 gnomAD v4
6g.51912519G>TCA364439873PKHD1c.6179C>A (p.Thr2060Lys)
c.5537C>A (p.Thr1846Lys)
c.5468C>A (p.Thr1823Lys)
c.254C>A (p.Thr85Lys)
c.6104C>A (p.Thr2035Lys)
c.5915C>A (p.Thr1972Lys)
c.4319C>A (p.Thr1440Lys)
n.6455C>A
6g.51912520T>ACA364439874PKHD1c.6178A>T (p.Thr2060Ser)
c.5536A>T (p.Thr1846Ser)
c.5467A>T (p.Thr1823Ser)
c.253A>T (p.Thr85Ser)
c.6103A>T (p.Thr2035Ser)
c.5914A>T (p.Thr1972Ser)
c.4318A>T (p.Thr1440Ser)
n.6454A>T
6g.51912520T>CCA364439875PKHD1c.6178A>G (p.Thr2060Ala)
c.5536A>G (p.Thr1846Ala)
c.5467A>G (p.Thr1823Ala)
c.253A>G (p.Thr85Ala)
c.6103A>G (p.Thr2035Ala)
c.5914A>G (p.Thr1972Ala)
c.4318A>G (p.Thr1440Ala)
n.6454A>G
 dbSNP gnomAD v3 gnomAD v4
6g.51912520T>GCA364439876PKHD1c.6178A>C (p.Thr2060Pro)
c.5536A>C (p.Thr1846Pro)
c.5467A>C (p.Thr1823Pro)
c.253A>C (p.Thr85Pro)
c.6103A>C (p.Thr2035Pro)
c.5914A>C (p.Thr1972Pro)
c.4318A>C (p.Thr1440Pro)
n.6454A>C
6g.51912520T=CA1628583465PKHD1c.6178A= (p.Thr2060=)
c.5536A= (p.Thr1846=)
c.5467A= (p.Thr1823=)
c.253A= (p.Thr85=)
c.6103A= (p.Thr2035=)
c.5914A= (p.Thr1972=)
c.4318A= (p.Thr1440=)
n.6454A=
6g.51912521G>ACA450416013PKHD1c.6177C>T (p.Asp2059=)
c.5535C>T (p.Asp1845=)
c.5466C>T (p.Asp1822=)
c.252C>T (p.Asp84=)
c.6102C>T (p.Asp2034=)
c.5913C>T (p.Asp1971=)
c.4317C>T (p.Asp1439=)
n.6453C>T
 ClinVar dbSNP
6g.51912521G>CCA364439877PKHD1c.6177C>G (p.Asp2059Glu)
c.5535C>G (p.Asp1845Glu)
c.5466C>G (p.Asp1822Glu)
c.252C>G (p.Asp84Glu)
c.6102C>G (p.Asp2034Glu)
c.5913C>G (p.Asp1971Glu)
c.4317C>G (p.Asp1439Glu)
n.6453C>G
6g.51912521G=CA1628583467PKHD1c.6177C= (p.Asp2059=)
c.5535C= (p.Asp1845=)
c.5466C= (p.Asp1822=)
c.252C= (p.Asp84=)
c.6102C= (p.Asp2034=)
c.5913C= (p.Asp1971=)
c.4317C= (p.Asp1439=)
n.6453C=
6g.51912521G>TCA364439878PKHD1c.6177C>A (p.Asp2059Glu)
c.5535C>A (p.Asp1845Glu)
c.5466C>A (p.Asp1822Glu)
c.252C>A (p.Asp84Glu)
c.6102C>A (p.Asp2034Glu)
c.5913C>A (p.Asp1971Glu)
c.4317C>A (p.Asp1439Glu)
n.6453C>A
6g.51912522T>ACA364439879PKHD1c.6176A>T (p.Asp2059Val)
c.5534A>T (p.Asp1845Val)
c.5465A>T (p.Asp1822Val)
c.251A>T (p.Asp84Val)
c.6101A>T (p.Asp2034Val)
c.5912A>T (p.Asp1971Val)
c.4316A>T (p.Asp1439Val)
n.6452A>T
6g.51912522T>CCA364439880PKHD1c.6176A>G (p.Asp2059Gly)
c.5534A>G (p.Asp1845Gly)
c.5465A>G (p.Asp1822Gly)
c.251A>G (p.Asp84Gly)
c.6101A>G (p.Asp2034Gly)
c.5912A>G (p.Asp1971Gly)
c.4316A>G (p.Asp1439Gly)
n.6452A>G
 gnomAD v4
6g.51912522T>GCA364439881PKHD1c.6176A>C (p.Asp2059Ala)
c.5534A>C (p.Asp1845Ala)
c.5465A>C (p.Asp1822Ala)
c.251A>C (p.Asp84Ala)
c.6101A>C (p.Asp2034Ala)
c.5912A>C (p.Asp1971Ala)
c.4316A>C (p.Asp1439Ala)
n.6452A>C
6g.51912523C>ACA364439883PKHD1c.6175G>T (p.Asp2059Tyr)
c.5533G>T (p.Asp1845Tyr)
c.5464G>T (p.Asp1822Tyr)
c.250G>T (p.Asp84Tyr)
c.6100G>T (p.Asp2034Tyr)
c.5911G>T (p.Asp1971Tyr)
c.4315G>T (p.Asp1439Tyr)
n.6451G>T
6g.51912523C=CA1628583470PKHD1c.6175G= (p.Asp2059=)
c.5533G= (p.Asp1845=)
c.5464G= (p.Asp1822=)
c.250G= (p.Asp84=)
c.6100G= (p.Asp2034=)
c.5911G= (p.Asp1971=)
c.4315G= (p.Asp1439=)
n.6451G=
6g.51912523C>GCA364439882PKHD1c.6175G>C (p.Asp2059His)
c.5533G>C (p.Asp1845His)
c.5464G>C (p.Asp1822His)
c.250G>C (p.Asp84His)
c.6100G>C (p.Asp2034His)
c.5911G>C (p.Asp1971His)
c.4315G>C (p.Asp1439His)
n.6451G>C
6g.51912523C>TCA3852318PKHD1c.6175G>A (p.Asp2059Asn)
c.5533G>A (p.Asp1845Asn)
c.5464G>A (p.Asp1822Asn)
c.250G>A (p.Asp84Asn)
c.6100G>A (p.Asp2034Asn)
c.5911G>A (p.Asp1971Asn)
c.4315G>A (p.Asp1439Asn)
n.6451G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51912523_51912525dupCA2679081922PKHD1c.6173_6175dup (p.Leu2058_Asp2059insVal)
c.5531_5533dup (p.Leu1844_Asp1845insVal)
c.5462_5464dup (p.Leu1821_Asp1822insVal)
c.248_250dup (p.Leu83_Asp84insVal)
c.6098_6100dup (p.Leu2033_Asp2034insVal)
c.5909_5911dup (p.Leu1970_Asp1971insVal)
c.4313_4315dup (p.Leu1438_Asp1439insVal)
n.6449_6451dup
 gnomAD v4
6g.51912524T>ACA450416014PKHD1c.6174A>T (p.Leu2058=)
c.5532A>T (p.Leu1844=)
c.5463A>T (p.Leu1821=)
c.249A>T (p.Leu83=)
c.6099A>T (p.Leu2033=)
c.5910A>T (p.Leu1970=)
c.4314A>T (p.Leu1438=)
n.6450A>T
6g.51912524T>CCA450416015PKHD1c.6174A>G (p.Leu2058=)
c.5532A>G (p.Leu1844=)
c.5463A>G (p.Leu1821=)
c.249A>G (p.Leu83=)
c.6099A>G (p.Leu2033=)
c.5910A>G (p.Leu1970=)
c.4314A>G (p.Leu1438=)
n.6450A>G
6g.51912524T>GCA450416016PKHD1c.6174A>C (p.Leu2058=)
c.5532A>C (p.Leu1844=)
c.5463A>C (p.Leu1821=)
c.249A>C (p.Leu83=)
c.6099A>C (p.Leu2033=)
c.5910A>C (p.Leu1970=)
c.4314A>C (p.Leu1438=)
n.6450A>C
6g.51912525A=CA1628583472PKHD1c.6173T= (p.Leu2058=)
c.5531T= (p.Leu1844=)
c.5462T= (p.Leu1821=)
c.248T= (p.Leu83=)
c.6098T= (p.Leu2033=)
c.5909T= (p.Leu1970=)
c.4313T= (p.Leu1438=)
n.6449T=
6g.51912525A>CCA364439884PKHD1c.6173T>G (p.Leu2058Arg)
c.5531T>G (p.Leu1844Arg)
c.5462T>G (p.Leu1821Arg)
c.248T>G (p.Leu83Arg)
c.6098T>G (p.Leu2033Arg)
c.5909T>G (p.Leu1970Arg)
c.4313T>G (p.Leu1438Arg)
n.6449T>G
 dbSNP gnomAD v2 gnomAD v4
6g.51912525A>GCA364439885PKHD1c.6173T>C (p.Leu2058Pro)
c.5531T>C (p.Leu1844Pro)
c.5462T>C (p.Leu1821Pro)
c.248T>C (p.Leu83Pro)
c.6098T>C (p.Leu2033Pro)
c.5909T>C (p.Leu1970Pro)
c.4313T>C (p.Leu1438Pro)
n.6449T>C
6g.51912525A>TCA364439886PKHD1c.6173T>A (p.Leu2058Gln)
c.5531T>A (p.Leu1844Gln)
c.5462T>A (p.Leu1821Gln)
c.248T>A (p.Leu83Gln)
c.6098T>A (p.Leu2033Gln)
c.5909T>A (p.Leu1970Gln)
c.4313T>A (p.Leu1438Gln)
n.6449T>A
6g.51912526G>ACA450416017PKHD1c.6172C>T (p.Leu2058=)
c.5530C>T (p.Leu1844=)
c.5461C>T (p.Leu1821=)
c.247C>T (p.Leu83=)
c.6097C>T (p.Leu2033=)
c.5908C>T (p.Leu1970=)
c.4312C>T (p.Leu1438=)
n.6448C>T
6g.51912526G>CCA364439887PKHD1c.6172C>G (p.Leu2058Val)
c.5530C>G (p.Leu1844Val)
c.5461C>G (p.Leu1821Val)
c.247C>G (p.Leu83Val)
c.6097C>G (p.Leu2033Val)
c.5908C>G (p.Leu1970Val)
c.4312C>G (p.Leu1438Val)
n.6448C>G
6g.51912526G>TCA364439888PKHD1c.6172C>A (p.Leu2058Ile)
c.5530C>A (p.Leu1844Ile)
c.5461C>A (p.Leu1821Ile)
c.247C>A (p.Leu83Ile)
c.6097C>A (p.Leu2033Ile)
c.5908C>A (p.Leu1970Ile)
c.4312C>A (p.Leu1438Ile)
n.6448C>A
6g.51912527G>ACA450416018PKHD1c.6171C>T (p.Ala2057=)
c.5529C>T (p.Ala1843=)
c.5460C>T (p.Ala1820=)
c.246C>T (p.Ala82=)
c.6096C>T (p.Ala2032=)
c.5907C>T (p.Ala1969=)
c.4311C>T (p.Ala1437=)
n.6447C>T
 gnomAD v4
6g.51912527G>CCA450416020PKHD1c.6171C>G (p.Ala2057=)
c.5529C>G (p.Ala1843=)
c.5460C>G (p.Ala1820=)
c.246C>G (p.Ala82=)
c.6096C>G (p.Ala2032=)
c.5907C>G (p.Ala1969=)
c.4311C>G (p.Ala1437=)
n.6447C>G
 gnomAD v4
6g.51912527G>TCA450416019PKHD1c.6171C>A (p.Ala2057=)
c.5529C>A (p.Ala1843=)
c.5460C>A (p.Ala1820=)
c.246C>A (p.Ala82=)
c.6096C>A (p.Ala2032=)
c.5907C>A (p.Ala1969=)
c.4311C>A (p.Ala1437=)
n.6447C>A
6g.51912528G>ACA364439889PKHD1c.6170C>T (p.Ala2057Val)
c.5528C>T (p.Ala1843Val)
c.5459C>T (p.Ala1820Val)
c.245C>T (p.Ala82Val)
c.6095C>T (p.Ala2032Val)
c.5906C>T (p.Ala1969Val)
c.4310C>T (p.Ala1437Val)
n.6446C>T
6g.51912528G>CCA364439890PKHD1c.6170C>G (p.Ala2057Gly)
c.5528C>G (p.Ala1843Gly)
c.5459C>G (p.Ala1820Gly)
c.245C>G (p.Ala82Gly)
c.6095C>G (p.Ala2032Gly)
c.5906C>G (p.Ala1969Gly)
c.4310C>G (p.Ala1437Gly)
n.6446C>G
 gnomAD v4
6g.51912528G=CA1628583475PKHD1c.6170C= (p.Ala2057=)
c.5528C= (p.Ala1843=)
c.5459C= (p.Ala1820=)
c.245C= (p.Ala82=)
c.6095C= (p.Ala2032=)
c.5906C= (p.Ala1969=)
c.4310C= (p.Ala1437=)
n.6446C=
6g.51912528G>TCA138910857PKHD1c.6170C>A (p.Ala2057Asp)
c.5528C>A (p.Ala1843Asp)
c.5459C>A (p.Ala1820Asp)
c.245C>A (p.Ala82Asp)
c.6095C>A (p.Ala2032Asp)
c.5906C>A (p.Ala1969Asp)
c.4310C>A (p.Ala1437Asp)
n.6446C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51912529C>ACA364439891PKHD1c.6169G>T (p.Ala2057Ser)
c.5527G>T (p.Ala1843Ser)
c.5458G>T (p.Ala1820Ser)
c.244G>T (p.Ala82Ser)
c.6094G>T (p.Ala2032Ser)
c.5905G>T (p.Ala1969Ser)
c.4309G>T (p.Ala1437Ser)
n.6445G>T
 COSMIC COSMIC
6g.51912529C=CA1628583478PKHD1c.6169G= (p.Ala2057=)
c.5527G= (p.Ala1843=)
c.5458G= (p.Ala1820=)
c.244G= (p.Ala82=)
c.6094G= (p.Ala2032=)
c.5905G= (p.Ala1969=)
c.4309G= (p.Ala1437=)
n.6445G=
6g.51912529C>GCA364439892PKHD1c.6169G>C (p.Ala2057Pro)
c.5527G>C (p.Ala1843Pro)
c.5458G>C (p.Ala1820Pro)
c.244G>C (p.Ala82Pro)
c.6094G>C (p.Ala2032Pro)
c.5905G>C (p.Ala1969Pro)
c.4309G>C (p.Ala1437Pro)
n.6445G>C
6g.51912529C>TCA138910859PKHD1c.6169G>A (p.Ala2057Thr)
c.5527G>A (p.Ala1843Thr)
c.5458G>A (p.Ala1820Thr)
c.244G>A (p.Ala82Thr)
c.6094G>A (p.Ala2032Thr)
c.5905G>A (p.Ala1969Thr)
c.4309G>A (p.Ala1437Thr)
n.6445G>A
 dbSNP gnomAD v2 gnomAD v4
6g.51912530A=CA1628583481PKHD1c.6168T= (p.His2056=)
c.5526T= (p.His1842=)
c.5457T= (p.His1819=)
c.243T= (p.His81=)
c.6093T= (p.His2031=)
c.5904T= (p.His1968=)
c.4308T= (p.His1436=)
n.6444T=
6g.51912530A>CCA364439893PKHD1c.6168T>G (p.His2056Gln)
c.5526T>G (p.His1842Gln)
c.5457T>G (p.His1819Gln)
c.243T>G (p.His81Gln)
c.6093T>G (p.His2031Gln)
c.5904T>G (p.His1968Gln)
c.4308T>G (p.His1436Gln)
n.6444T>G
 dbSNP
6g.51912530A>GCA450416021PKHD1c.6168T>C (p.His2056=)
c.5526T>C (p.His1842=)
c.5457T>C (p.His1819=)
c.243T>C (p.His81=)
c.6093T>C (p.His2031=)
c.5904T>C (p.His1968=)
c.4308T>C (p.His1436=)
n.6444T>C
6g.51912530A>TCA364439894PKHD1c.6168T>A (p.His2056Gln)
c.5526T>A (p.His1842Gln)
c.5457T>A (p.His1819Gln)
c.243T>A (p.His81Gln)
c.6093T>A (p.His2031Gln)
c.5904T>A (p.His1968Gln)
c.4308T>A (p.His1436Gln)
n.6444T>A
 dbSNP
6g.51912531T>ACA364439897PKHD1c.6167A>T (p.His2056Leu)
c.5525A>T (p.His1842Leu)
c.5456A>T (p.His1819Leu)
c.242A>T (p.His81Leu)
c.6092A>T (p.His2031Leu)
c.5903A>T (p.His1968Leu)
c.4307A>T (p.His1436Leu)
n.6443A>T
6g.51912531T>CCA364439895PKHD1c.6167A>G (p.His2056Arg)
c.5525A>G (p.His1842Arg)
c.5456A>G (p.His1819Arg)
c.242A>G (p.His81Arg)
c.6092A>G (p.His2031Arg)
c.5903A>G (p.His1968Arg)
c.4307A>G (p.His1436Arg)
n.6443A>G
6g.51912531T>GCA364439896PKHD1c.6167A>C (p.His2056Pro)
c.5525A>C (p.His1842Pro)
c.5456A>C (p.His1819Pro)
c.242A>C (p.His81Pro)
c.6092A>C (p.His2031Pro)
c.5903A>C (p.His1968Pro)
c.4307A>C (p.His1436Pro)
n.6443A>C
6g.51912532G>ACA364439898PKHD1c.6166C>T (p.His2056Tyr)
c.5524C>T (p.His1842Tyr)
c.5455C>T (p.His1819Tyr)
c.241C>T (p.His81Tyr)
c.6091C>T (p.His2031Tyr)
c.5902C>T (p.His1968Tyr)
c.4306C>T (p.His1436Tyr)
n.6442C>T
 dbSNP gnomAD v3 gnomAD v4
6g.51912532G>CCA364439899PKHD1c.6166C>G (p.His2056Asp)
c.5524C>G (p.His1842Asp)
c.5455C>G (p.His1819Asp)
c.241C>G (p.His81Asp)
c.6091C>G (p.His2031Asp)
c.5902C>G (p.His1968Asp)
c.4306C>G (p.His1436Asp)
n.6442C>G
6g.51912532G=CA1628583484PKHD1c.6166C= (p.His2056=)
c.5524C= (p.His1842=)
c.5455C= (p.His1819=)
c.241C= (p.His81=)
c.6091C= (p.His2031=)
c.5902C= (p.His1968=)
c.4306C= (p.His1436=)
n.6442C=
6g.51912532G>TCA364439900PKHD1c.6166C>A (p.His2056Asn)
c.5524C>A (p.His1842Asn)
c.5455C>A (p.His1819Asn)
c.241C>A (p.His81Asn)
c.6091C>A (p.His2031Asn)
c.5902C>A (p.His1968Asn)
c.4306C>A (p.His1436Asn)
n.6442C>A
6g.51912533G>ACA450416022PKHD1c.6165C>T (p.Ala2055=)
c.5523C>T (p.Ala1841=)
c.5454C>T (p.Ala1818=)
c.240C>T (p.Ala80=)
c.6090C>T (p.Ala2030=)
c.5901C>T (p.Ala1967=)
c.4305C>T (p.Ala1435=)
n.6441C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51912533G>CCA450416023PKHD1c.6165C>G (p.Ala2055=)
c.5523C>G (p.Ala1841=)
c.5454C>G (p.Ala1818=)
c.240C>G (p.Ala80=)
c.6090C>G (p.Ala2030=)
c.5901C>G (p.Ala1967=)
c.4305C>G (p.Ala1435=)
n.6441C>G
6g.51912533G=CA1628583487PKHD1c.6165C= (p.Ala2055=)
c.5523C= (p.Ala1841=)
c.5454C= (p.Ala1818=)
c.240C= (p.Ala80=)
c.6090C= (p.Ala2030=)
c.5901C= (p.Ala1967=)
c.4305C= (p.Ala1435=)
n.6441C=
6g.51912533G>TCA450416024PKHD1c.6165C>A (p.Ala2055=)
c.5523C>A (p.Ala1841=)
c.5454C>A (p.Ala1818=)
c.240C>A (p.Ala80=)
c.6090C>A (p.Ala2030=)
c.5901C>A (p.Ala1967=)
c.4305C>A (p.Ala1435=)
n.6441C>A
6g.51912534G>ACA364439901PKHD1c.6164C>T (p.Ala2055Val)
c.5522C>T (p.Ala1841Val)
c.5453C>T (p.Ala1818Val)
c.239C>T (p.Ala80Val)
c.6089C>T (p.Ala2030Val)
c.5900C>T (p.Ala1967Val)
c.4304C>T (p.Ala1435Val)
n.6440C>T
6g.51912534G>CCA364439902PKHD1c.6164C>G (p.Ala2055Gly)
c.5522C>G (p.Ala1841Gly)
c.5453C>G (p.Ala1818Gly)
c.239C>G (p.Ala80Gly)
c.6089C>G (p.Ala2030Gly)
c.5900C>G (p.Ala1967Gly)
c.4304C>G (p.Ala1435Gly)
n.6440C>G
6g.51912534G>TCA364439903PKHD1c.6164C>A (p.Ala2055Asp)
c.5522C>A (p.Ala1841Asp)
c.5453C>A (p.Ala1818Asp)
c.239C>A (p.Ala80Asp)
c.6089C>A (p.Ala2030Asp)
c.5900C>A (p.Ala1967Asp)
c.4304C>A (p.Ala1435Asp)
n.6440C>A
6g.51912535C>ACA3852319PKHD1c.6163G>T (p.Ala2055Ser)
c.5521G>T (p.Ala1841Ser)
c.5452G>T (p.Ala1818Ser)
c.238G>T (p.Ala80Ser)
c.6088G>T (p.Ala2030Ser)
c.5899G>T (p.Ala1967Ser)
c.4303G>T (p.Ala1435Ser)
n.6439G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51912535C=CA1628583490PKHD1c.6163G= (p.Ala2055=)
c.5521G= (p.Ala1841=)
c.5452G= (p.Ala1818=)
c.238G= (p.Ala80=)
c.6088G= (p.Ala2030=)
c.5899G= (p.Ala1967=)
c.4303G= (p.Ala1435=)
n.6439G=
6g.51912535C>GCA364439904PKHD1c.6163G>C (p.Ala2055Pro)
c.5521G>C (p.Ala1841Pro)
c.5452G>C (p.Ala1818Pro)
c.238G>C (p.Ala80Pro)
c.6088G>C (p.Ala2030Pro)
c.5899G>C (p.Ala1967Pro)
c.4303G>C (p.Ala1435Pro)
n.6439G>C
6g.51912535C>TCA364439905PKHD1c.6163G>A (p.Ala2055Thr)
c.5521G>A (p.Ala1841Thr)
c.5452G>A (p.Ala1818Thr)
c.238G>A (p.Ala80Thr)
c.6088G>A (p.Ala2030Thr)
c.5899G>A (p.Ala1967Thr)
c.4303G>A (p.Ala1435Thr)
n.6439G>A
 COSMIC COSMIC
6g.51912536A=CA1628583494PKHD1c.6162T= (p.Thr2054=)
c.5520T= (p.Thr1840=)
c.5451T= (p.Thr1817=)
c.237T= (p.Thr79=)
c.6087T= (p.Thr2029=)
c.5898T= (p.Thr1966=)
c.4302T= (p.Thr1434=)
n.6438T=
6g.51912536A>CCA450416027PKHD1c.6162T>G (p.Thr2054=)
c.5520T>G (p.Thr1840=)
c.5451T>G (p.Thr1817=)
c.237T>G (p.Thr79=)
c.6087T>G (p.Thr2029=)
c.5898T>G (p.Thr1966=)
c.4302T>G (p.Thr1434=)
n.6438T>G
6g.51912536A>GCA450416025PKHD1c.6162T>C (p.Thr2054=)
c.5520T>C (p.Thr1840=)
c.5451T>C (p.Thr1817=)
c.237T>C (p.Thr79=)
c.6087T>C (p.Thr2029=)
c.5898T>C (p.Thr1966=)
c.4302T>C (p.Thr1434=)
n.6438T>C
 dbSNP
6g.51912536A>TCA450416026PKHD1c.6162T>A (p.Thr2054=)
c.5520T>A (p.Thr1840=)
c.5451T>A (p.Thr1817=)
c.237T>A (p.Thr79=)
c.6087T>A (p.Thr2029=)
c.5898T>A (p.Thr1966=)
c.4302T>A (p.Thr1434=)
n.6438T>A
6g.51912537G>ACA364439906PKHD1c.6161C>T (p.Thr2054Ile)
c.5519C>T (p.Thr1840Ile)
c.5450C>T (p.Thr1817Ile)
c.236C>T (p.Thr79Ile)
c.6086C>T (p.Thr2029Ile)
c.5897C>T (p.Thr1966Ile)
c.4301C>T (p.Thr1434Ile)
n.6437C>T
 gnomAD v4
6g.51912537G>CCA364439907PKHD1c.6161C>G (p.Thr2054Ser)
c.5519C>G (p.Thr1840Ser)
c.5450C>G (p.Thr1817Ser)
c.236C>G (p.Thr79Ser)
c.6086C>G (p.Thr2029Ser)
c.5897C>G (p.Thr1966Ser)
c.4301C>G (p.Thr1434Ser)
n.6437C>G
6g.51912537G=CA1628583497PKHD1c.6161C= (p.Thr2054=)
c.5519C= (p.Thr1840=)
c.5450C= (p.Thr1817=)
c.236C= (p.Thr79=)
c.6086C= (p.Thr2029=)
c.5897C= (p.Thr1966=)
c.4301C= (p.Thr1434=)
n.6437C=
6g.51912537G>TCA364439908PKHD1c.6161C>A (p.Thr2054Asn)
c.5519C>A (p.Thr1840Asn)
c.5450C>A (p.Thr1817Asn)
c.236C>A (p.Thr79Asn)
c.6086C>A (p.Thr2029Asn)
c.5897C>A (p.Thr1966Asn)
c.4301C>A (p.Thr1434Asn)
n.6437C>A
 dbSNP
6g.51912538T>ACA364439911PKHD1c.6160A>T (p.Thr2054Ser)
c.5518A>T (p.Thr1840Ser)
c.5449A>T (p.Thr1817Ser)
c.235A>T (p.Thr79Ser)
c.6085A>T (p.Thr2029Ser)
c.5896A>T (p.Thr1966Ser)
c.4300A>T (p.Thr1434Ser)
n.6436A>T
6g.51912538T>CCA364439910PKHD1c.6160A>G (p.Thr2054Ala)
c.5518A>G (p.Thr1840Ala)
c.5449A>G (p.Thr1817Ala)
c.235A>G (p.Thr79Ala)
c.6085A>G (p.Thr2029Ala)
c.5896A>G (p.Thr1966Ala)
c.4300A>G (p.Thr1434Ala)
n.6436A>G
6g.51912538T>GCA364439909PKHD1c.6160A>C (p.Thr2054Pro)
c.5518A>C (p.Thr1840Pro)
c.5449A>C (p.Thr1817Pro)
c.235A>C (p.Thr79Pro)
c.6085A>C (p.Thr2029Pro)
c.5896A>C (p.Thr1966Pro)
c.4300A>C (p.Thr1434Pro)
n.6436A>C
6g.51912539T>ACA450416028PKHD1c.6159A>T (p.Ala2053=)
c.5517A>T (p.Ala1839=)
c.5448A>T (p.Ala1816=)
c.234A>T (p.Ala78=)
c.6084A>T (p.Ala2028=)
c.5895A>T (p.Ala1965=)
c.4299A>T (p.Ala1433=)
n.6435A>T
6g.51912539T>CCA450416029PKHD1c.6159A>G (p.Ala2053=)
c.5517A>G (p.Ala1839=)
c.5448A>G (p.Ala1816=)
c.234A>G (p.Ala78=)
c.6084A>G (p.Ala2028=)
c.5895A>G (p.Ala1965=)
c.4299A>G (p.Ala1433=)
n.6435A>G
 dbSNP
6g.51912539T>GCA450416030PKHD1c.6159A>C (p.Ala2053=)
c.5517A>C (p.Ala1839=)
c.5448A>C (p.Ala1816=)
c.234A>C (p.Ala78=)
c.6084A>C (p.Ala2028=)
c.5895A>C (p.Ala1965=)
c.4299A>C (p.Ala1433=)
n.6435A>C
6g.51912539T=CA1628583499PKHD1c.6159A= (p.Ala2053=)
c.5517A= (p.Ala1839=)
c.5448A= (p.Ala1816=)
c.234A= (p.Ala78=)
c.6084A= (p.Ala2028=)
c.5895A= (p.Ala1965=)
c.4299A= (p.Ala1433=)
n.6435A=
6g.51912540G>ACA364439913PKHD1c.6158C>T (p.Ala2053Val)
c.5516C>T (p.Ala1839Val)
c.5447C>T (p.Ala1816Val)
c.233C>T (p.Ala78Val)
c.6083C>T (p.Ala2028Val)
c.5894C>T (p.Ala1965Val)
c.4298C>T (p.Ala1433Val)
n.6434C>T
6g.51912540G>CCA364439912PKHD1c.6158C>G (p.Ala2053Gly)
c.5516C>G (p.Ala1839Gly)
c.5447C>G (p.Ala1816Gly)
c.233C>G (p.Ala78Gly)
c.6083C>G (p.Ala2028Gly)
c.5894C>G (p.Ala1965Gly)
c.4298C>G (p.Ala1433Gly)
n.6434C>G
6g.51912540G=CA1628583502PKHD1c.6158C= (p.Ala2053=)
c.5516C= (p.Ala1839=)
c.5447C= (p.Ala1816=)
c.233C= (p.Ala78=)
c.6083C= (p.Ala2028=)
c.5894C= (p.Ala1965=)
c.4298C= (p.Ala1433=)
n.6434C=
6g.51912540G>TCA364439914PKHD1c.6158C>A (p.Ala2053Glu)
c.5516C>A (p.Ala1839Glu)
c.5447C>A (p.Ala1816Glu)
c.233C>A (p.Ala78Glu)
c.6083C>A (p.Ala2028Glu)
c.5894C>A (p.Ala1965Glu)
c.4298C>A (p.Ala1433Glu)
n.6434C>A
 dbSNP
6g.51912541C>ACA364439915PKHD1c.6157G>T (p.Ala2053Ser)
c.5515G>T (p.Ala1839Ser)
c.5446G>T (p.Ala1816Ser)
c.232G>T (p.Ala78Ser)
c.6082G>T (p.Ala2028Ser)
c.5893G>T (p.Ala1965Ser)
c.4297G>T (p.Ala1433Ser)
n.6433G>T
6g.51912541C>GCA364439916PKHD1c.6157G>C (p.Ala2053Pro)
c.5515G>C (p.Ala1839Pro)
c.5446G>C (p.Ala1816Pro)
c.232G>C (p.Ala78Pro)
c.6082G>C (p.Ala2028Pro)
c.5893G>C (p.Ala1965Pro)
c.4297G>C (p.Ala1433Pro)
n.6433G>C
6g.51912541C>TCA364439917PKHD1c.6157G>A (p.Ala2053Thr)
c.5515G>A (p.Ala1839Thr)
c.5446G>A (p.Ala1816Thr)
c.232G>A (p.Ala78Thr)
c.6082G>A (p.Ala2028Thr)
c.5893G>A (p.Ala1965Thr)
c.4297G>A (p.Ala1433Thr)
n.6433G>A
6g.51912542T>ACA364439918PKHD1c.6156A>T (p.Arg2052Ser)
c.5514A>T (p.Arg1838Ser)
c.5445A>T (p.Arg1815Ser)
c.231A>T (p.Arg77Ser)
c.6081A>T (p.Arg2027Ser)
c.5892A>T (p.Arg1964Ser)
c.4296A>T (p.Arg1432Ser)
n.6432A>T
6g.51912542T>CCA450416031PKHD1c.6156A>G (p.Arg2052=)
c.5514A>G (p.Arg1838=)
c.5445A>G (p.Arg1815=)
c.231A>G (p.Arg77=)
c.6081A>G (p.Arg2027=)
c.5892A>G (p.Arg1964=)
c.4296A>G (p.Arg1432=)
n.6432A>G
6g.51912542T>GCA364439919PKHD1c.6156A>C (p.Arg2052Ser)
c.5514A>C (p.Arg1838Ser)
c.5445A>C (p.Arg1815Ser)
c.231A>C (p.Arg77Ser)
c.6081A>C (p.Arg2027Ser)
c.5892A>C (p.Arg1964Ser)
c.4296A>C (p.Arg1432Ser)
n.6432A>C
6g.51912543C>ACA364439920PKHD1c.6155G>T (p.Arg2052Ile)
c.5513G>T (p.Arg1838Ile)
c.5444G>T (p.Arg1815Ile)
c.230G>T (p.Arg77Ile)
c.6080G>T (p.Arg2027Ile)
c.5891G>T (p.Arg1964Ile)
c.4295G>T (p.Arg1432Ile)
n.6431G>T
6g.51912543C>GCA364439921PKHD1c.6155G>C (p.Arg2052Thr)
c.5513G>C (p.Arg1838Thr)
c.5444G>C (p.Arg1815Thr)
c.230G>C (p.Arg77Thr)
c.6080G>C (p.Arg2027Thr)
c.5891G>C (p.Arg1964Thr)
c.4295G>C (p.Arg1432Thr)
n.6431G>C
6g.51912543C>TCA364439922PKHD1c.6155G>A (p.Arg2052Lys)
c.5513G>A (p.Arg1838Lys)
c.5444G>A (p.Arg1815Lys)
c.230G>A (p.Arg77Lys)
c.6080G>A (p.Arg2027Lys)
c.5891G>A (p.Arg1964Lys)
c.4295G>A (p.Arg1432Lys)
n.6431G>A
6g.51912544T>ACA364439923PKHD1c.6154A>T (p.Arg2052Ter)
c.5512A>T (p.Arg1838Ter)
c.5443A>T (p.Arg1815Ter)
c.229A>T (p.Arg77Ter)
c.6079A>T (p.Arg2027Ter)
c.5890A>T (p.Arg1964Ter)
c.4294A>T (p.Arg1432Ter)
n.6430A>T
6g.51912544T>CCA364439924PKHD1c.6154A>G (p.Arg2052Gly)
c.5512A>G (p.Arg1838Gly)
c.5443A>G (p.Arg1815Gly)
c.229A>G (p.Arg77Gly)
c.6079A>G (p.Arg2027Gly)
c.5890A>G (p.Arg1964Gly)
c.4294A>G (p.Arg1432Gly)
n.6430A>G
6g.51912544T>GCA450416032PKHD1c.6154A>C (p.Arg2052=)
c.5512A>C (p.Arg1838=)
c.5443A>C (p.Arg1815=)
c.229A>C (p.Arg77=)
c.6079A>C (p.Arg2027=)
c.5890A>C (p.Arg1964=)
c.4294A>C (p.Arg1432=)
n.6430A>C
6g.51912545A>CCA450416033PKHD1c.6153T>G (p.Leu2051=)
c.5511T>G (p.Leu1837=)
c.5442T>G (p.Leu1814=)
c.228T>G (p.Leu76=)
c.6078T>G (p.Leu2026=)
c.5889T>G (p.Leu1963=)
c.4293T>G (p.Leu1431=)
n.6429T>G
6g.51912545A>GCA450416034PKHD1c.6153T>C (p.Leu2051=)
c.5511T>C (p.Leu1837=)
c.5442T>C (p.Leu1814=)
c.228T>C (p.Leu76=)
c.6078T>C (p.Leu2026=)
c.5889T>C (p.Leu1963=)
c.4293T>C (p.Leu1431=)
n.6429T>C
 dbSNP
6g.51912545A>TCA450416035PKHD1c.6153T>A (p.Leu2051=)
c.5511T>A (p.Leu1837=)
c.5442T>A (p.Leu1814=)
c.228T>A (p.Leu76=)
c.6078T>A (p.Leu2026=)
c.5889T>A (p.Leu1963=)
c.4293T>A (p.Leu1431=)
n.6429T>A
6g.51912546A>CCA364439925PKHD1c.6152T>G (p.Leu2051Arg)
c.5510T>G (p.Leu1837Arg)
c.5441T>G (p.Leu1814Arg)
c.227T>G (p.Leu76Arg)
c.6077T>G (p.Leu2026Arg)
c.5888T>G (p.Leu1963Arg)
c.4292T>G (p.Leu1431Arg)
n.6428T>G
6g.51912546A>GCA364439926PKHD1c.6152T>C (p.Leu2051Pro)
c.5510T>C (p.Leu1837Pro)
c.5441T>C (p.Leu1814Pro)
c.227T>C (p.Leu76Pro)
c.6077T>C (p.Leu2026Pro)
c.5888T>C (p.Leu1963Pro)
c.4292T>C (p.Leu1431Pro)
n.6428T>C
6g.51912546A>TCA364439927PKHD1c.6152T>A (p.Leu2051His)
c.5510T>A (p.Leu1837His)
c.5441T>A (p.Leu1814His)
c.227T>A (p.Leu76His)
c.6077T>A (p.Leu2026His)
c.5888T>A (p.Leu1963His)
c.4292T>A (p.Leu1431His)
n.6428T>A
6g.51912547G>ACA364439930PKHD1c.6151C>T (p.Leu2051Phe)
c.5509C>T (p.Leu1837Phe)
c.5440C>T (p.Leu1814Phe)
c.226C>T (p.Leu76Phe)
c.6076C>T (p.Leu2026Phe)
c.5887C>T (p.Leu1963Phe)
c.4291C>T (p.Leu1431Phe)
n.6427C>T
6g.51912547G>CCA364439928PKHD1c.6151C>G (p.Leu2051Val)
c.5509C>G (p.Leu1837Val)
c.5440C>G (p.Leu1814Val)
c.226C>G (p.Leu76Val)
c.6076C>G (p.Leu2026Val)
c.5887C>G (p.Leu1963Val)
c.4291C>G (p.Leu1431Val)
n.6427C>G
6g.51912547G>TCA364439929PKHD1c.6151C>A (p.Leu2051Ile)
c.5509C>A (p.Leu1837Ile)
c.5440C>A (p.Leu1814Ile)
c.226C>A (p.Leu76Ile)
c.6076C>A (p.Leu2026Ile)
c.5887C>A (p.Leu1963Ile)
c.4291C>A (p.Leu1431Ile)
n.6427C>A
 dbSNP
6g.51912548A>CCA364439931PKHD1c.6150T>G (p.Cys2050Trp)
c.5508T>G (p.Cys1836Trp)
c.5439T>G (p.Cys1813Trp)
c.225T>G (p.Cys75Trp)
c.6075T>G (p.Cys2025Trp)
c.5886T>G (p.Cys1962Trp)
c.4290T>G (p.Cys1430Trp)
n.6426T>G
6g.51912548A>GCA450416036PKHD1c.6150T>C (p.Cys2050=)
c.5508T>C (p.Cys1836=)
c.5439T>C (p.Cys1813=)
c.225T>C (p.Cys75=)
c.6075T>C (p.Cys2025=)
c.5886T>C (p.Cys1962=)
c.4290T>C (p.Cys1430=)
n.6426T>C
6g.51912548A>TCA364439932PKHD1c.6150T>A (p.Cys2050Ter)
c.5508T>A (p.Cys1836Ter)
c.5439T>A (p.Cys1813Ter)
c.225T>A (p.Cys75Ter)
c.6075T>A (p.Cys2025Ter)
c.5886T>A (p.Cys1962Ter)
c.4290T>A (p.Cys1430Ter)
n.6426T>A
6g.51912549C>ACA364439933PKHD1c.6149G>T (p.Cys2050Phe)
c.5507G>T (p.Cys1836Phe)
c.5438G>T (p.Cys1813Phe)
c.224G>T (p.Cys75Phe)
c.6074G>T (p.Cys2025Phe)
c.5885G>T (p.Cys1962Phe)
c.4289G>T (p.Cys1430Phe)
n.6425G>T
6g.51912549C=CA1628583508PKHD1c.6149G= (p.Cys2050=)
c.5507G= (p.Cys1836=)
c.5438G= (p.Cys1813=)
c.224G= (p.Cys75=)
c.6074G= (p.Cys2025=)
c.5885G= (p.Cys1962=)
c.4289G= (p.Cys1430=)
n.6425G=
6g.51912549C>GCA3852320PKHD1c.6149G>C (p.Cys2050Ser)
c.5507G>C (p.Cys1836Ser)
c.5438G>C (p.Cys1813Ser)
c.224G>C (p.Cys75Ser)
c.6074G>C (p.Cys2025Ser)
c.5885G>C (p.Cys1962Ser)
c.4289G>C (p.Cys1430Ser)
n.6425G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912549C>TCA364439934PKHD1c.6149G>A (p.Cys2050Tyr)
c.5507G>A (p.Cys1836Tyr)
c.5438G>A (p.Cys1813Tyr)
c.224G>A (p.Cys75Tyr)
c.6074G>A (p.Cys2025Tyr)
c.5885G>A (p.Cys1962Tyr)
c.4289G>A (p.Cys1430Tyr)
n.6425G>A
 gnomAD v4
6g.51912550A>CCA364439935PKHD1c.6148T>G (p.Cys2050Gly)
c.5506T>G (p.Cys1836Gly)
c.5437T>G (p.Cys1813Gly)
c.223T>G (p.Cys75Gly)
c.6073T>G (p.Cys2025Gly)
c.5884T>G (p.Cys1962Gly)
c.4288T>G (p.Cys1430Gly)
n.6424T>G
6g.51912550A>GCA364439936PKHD1c.6148T>C (p.Cys2050Arg)
c.5506T>C (p.Cys1836Arg)
c.5437T>C (p.Cys1813Arg)
c.223T>C (p.Cys75Arg)
c.6073T>C (p.Cys2025Arg)
c.5884T>C (p.Cys1962Arg)
c.4288T>C (p.Cys1430Arg)
n.6424T>C
 dbSNP
6g.51912550A>TCA364439937PKHD1c.6148T>A (p.Cys2050Ser)
c.5506T>A (p.Cys1836Ser)
c.5437T>A (p.Cys1813Ser)
c.223T>A (p.Cys75Ser)
c.6073T>A (p.Cys2025Ser)
c.5884T>A (p.Cys1962Ser)
c.4288T>A (p.Cys1430Ser)
n.6424T>A
6g.51912551G>ACA450416037PKHD1c.6147C>T (p.Thr2049=)
c.5505C>T (p.Thr1835=)
c.5436C>T (p.Thr1812=)
c.222C>T (p.Thr74=)
c.6072C>T (p.Thr2024=)
c.5883C>T (p.Thr1961=)
c.4287C>T (p.Thr1429=)
n.6423C>T
 ClinVar dbSNP gnomAD v4
6g.51912551G>CCA450416038PKHD1c.6147C>G (p.Thr2049=)
c.5505C>G (p.Thr1835=)
c.5436C>G (p.Thr1812=)
c.222C>G (p.Thr74=)
c.6072C>G (p.Thr2024=)
c.5883C>G (p.Thr1961=)
c.4287C>G (p.Thr1429=)
n.6423C>G
 gnomAD v4
6g.51912551G>TCA450416039PKHD1c.6147C>A (p.Thr2049=)
c.5505C>A (p.Thr1835=)
c.5436C>A (p.Thr1812=)
c.222C>A (p.Thr74=)
c.6072C>A (p.Thr2024=)
c.5883C>A (p.Thr1961=)
c.4287C>A (p.Thr1429=)
n.6423C>A
6g.51912551delinsCTGCTCTTATACACATCTCA2580075504PKHD1c.6147delinsAGATGTGTATAAGAGCAG (p.Cys2050AspfsTer15)
c.5505delinsAGATGTGTATAAGAGCAG (p.Cys1836AspfsTer15)
c.5436delinsAGATGTGTATAAGAGCAG (p.Cys1813AspfsTer15)
c.222delinsAGATGTGTATAAGAGCAG (p.Cys75AspfsTer15)
c.6072delinsAGATGTGTATAAGAGCAG (p.Cys2025AspfsTer15)
c.5883delinsAGATGTGTATAAGAGCAG (p.Cys1962AspfsTer15)
c.4287delinsAGATGTGTATAAGAGCAG (p.Cys1430AspfsTer15)
n.6423delinsAGATGTGTATAAGAGCAG
 ClinVar
6g.51912552G>ACA364439938PKHD1c.6146C>T (p.Thr2049Ile)
c.5504C>T (p.Thr1835Ile)
c.5435C>T (p.Thr1812Ile)
c.221C>T (p.Thr74Ile)
c.6071C>T (p.Thr2024Ile)
c.5882C>T (p.Thr1961Ile)
c.4286C>T (p.Thr1429Ile)
n.6422C>T
 dbSNP
6g.51912552G>CCA364439939PKHD1c.6146C>G (p.Thr2049Ser)
c.5504C>G (p.Thr1835Ser)
c.5435C>G (p.Thr1812Ser)
c.221C>G (p.Thr74Ser)
c.6071C>G (p.Thr2024Ser)
c.5882C>G (p.Thr1961Ser)
c.4286C>G (p.Thr1429Ser)
n.6422C>G
6g.51912552G>TCA364439940PKHD1c.6146C>A (p.Thr2049Asn)
c.5504C>A (p.Thr1835Asn)
c.5435C>A (p.Thr1812Asn)
c.221C>A (p.Thr74Asn)
c.6071C>A (p.Thr2024Asn)
c.5882C>A (p.Thr1961Asn)
c.4286C>A (p.Thr1429Asn)
n.6422C>A
6g.51912553T>ACA364439943PKHD1c.6145A>T (p.Thr2049Ser)
c.5503A>T (p.Thr1835Ser)
c.5434A>T (p.Thr1812Ser)
c.220A>T (p.Thr74Ser)
c.6070A>T (p.Thr2024Ser)
c.5881A>T (p.Thr1961Ser)
c.4285A>T (p.Thr1429Ser)
n.6421A>T
6g.51912553T>CCA364439942PKHD1c.6145A>G (p.Thr2049Ala)
c.5503A>G (p.Thr1835Ala)
c.5434A>G (p.Thr1812Ala)
c.220A>G (p.Thr74Ala)
c.6070A>G (p.Thr2024Ala)
c.5881A>G (p.Thr1961Ala)
c.4285A>G (p.Thr1429Ala)
n.6421A>G
 dbSNP gnomAD v3 gnomAD v4
6g.51912553T>GCA364439941PKHD1c.6145A>C (p.Thr2049Pro)
c.5503A>C (p.Thr1835Pro)
c.5434A>C (p.Thr1812Pro)
c.220A>C (p.Thr74Pro)
c.6070A>C (p.Thr2024Pro)
c.5881A>C (p.Thr1961Pro)
c.4285A>C (p.Thr1429Pro)
n.6421A>C
6g.51912553T=CA1628583512PKHD1c.6145A= (p.Thr2049=)
c.5503A= (p.Thr1835=)
c.5434A= (p.Thr1812=)
c.220A= (p.Thr74=)
c.6070A= (p.Thr2024=)
c.5881A= (p.Thr1961=)
c.4285A= (p.Thr1429=)
n.6421A=
6g.51912554G>ACA450416040PKHD1c.6144C>T (p.Val2048=)
c.5502C>T (p.Val1834=)
c.5433C>T (p.Val1811=)
c.219C>T (p.Val73=)
c.6069C>T (p.Val2023=)
c.5880C>T (p.Val1960=)
c.4284C>T (p.Val1428=)
n.6420C>T
 gnomAD v4
6g.51912554G>CCA450416041PKHD1c.6144C>G (p.Val2048=)
c.5502C>G (p.Val1834=)
c.5433C>G (p.Val1811=)
c.219C>G (p.Val73=)
c.6069C>G (p.Val2023=)
c.5880C>G (p.Val1960=)
c.4284C>G (p.Val1428=)
n.6420C>G
6g.51912554G>TCA450416042PKHD1c.6144C>A (p.Val2048=)
c.5502C>A (p.Val1834=)
c.5433C>A (p.Val1811=)
c.219C>A (p.Val73=)
c.6069C>A (p.Val2023=)
c.5880C>A (p.Val1960=)
c.4284C>A (p.Val1428=)
n.6420C>A
6g.51912555A=CA1628583515PKHD1c.6143T= (p.Val2048=)
c.5501T= (p.Val1834=)
c.5432T= (p.Val1811=)
c.218T= (p.Val73=)
c.6068T= (p.Val2023=)
c.5879T= (p.Val1960=)
c.4283T= (p.Val1428=)
n.6419T=
6g.51912555A>CCA364439944PKHD1c.6143T>G (p.Val2048Gly)
c.5501T>G (p.Val1834Gly)
c.5432T>G (p.Val1811Gly)
c.218T>G (p.Val73Gly)
c.6068T>G (p.Val2023Gly)
c.5879T>G (p.Val1960Gly)
c.4283T>G (p.Val1428Gly)
n.6419T>G
6g.51912555A>GCA364439945PKHD1c.6143T>C (p.Val2048Ala)
c.5501T>C (p.Val1834Ala)
c.5432T>C (p.Val1811Ala)
c.218T>C (p.Val73Ala)
c.6068T>C (p.Val2023Ala)
c.5879T>C (p.Val1960Ala)
c.4283T>C (p.Val1428Ala)
n.6419T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51912555A>TCA364439946PKHD1c.6143T>A (p.Val2048Asp)
c.5501T>A (p.Val1834Asp)
c.5432T>A (p.Val1811Asp)
c.218T>A (p.Val73Asp)
c.6068T>A (p.Val2023Asp)
c.5879T>A (p.Val1960Asp)
c.4283T>A (p.Val1428Asp)
n.6419T>A
6g.51912556C>ACA3852321PKHD1c.6142G>T (p.Val2048Phe)
c.5500G>T (p.Val1834Phe)
c.5431G>T (p.Val1811Phe)
c.217G>T (p.Val73Phe)
c.6067G>T (p.Val2023Phe)
c.5878G>T (p.Val1960Phe)
c.4282G>T (p.Val1428Phe)
n.6418G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912556C=CA1628583523PKHD1c.6142G= (p.Val2048=)
c.5500G= (p.Val1834=)
c.5431G= (p.Val1811=)
c.217G= (p.Val73=)
c.6067G= (p.Val2023=)
c.5878G= (p.Val1960=)
c.4282G= (p.Val1428=)
n.6418G=
6g.51912556C>GCA364439947PKHD1c.6142G>C (p.Val2048Leu)
c.5500G>C (p.Val1834Leu)
c.5431G>C (p.Val1811Leu)
c.217G>C (p.Val73Leu)
c.6067G>C (p.Val2023Leu)
c.5878G>C (p.Val1960Leu)
c.4282G>C (p.Val1428Leu)
n.6418G>C
 gnomAD v4
6g.51912556C>TCA364439948PKHD1c.6142G>A (p.Val2048Ile)
c.5500G>A (p.Val1834Ile)
c.5431G>A (p.Val1811Ile)
c.217G>A (p.Val73Ile)
c.6067G>A (p.Val2023Ile)
c.5878G>A (p.Val1960Ile)
c.4282G>A (p.Val1428Ile)
n.6418G>A
 gnomAD v4
6g.51912557A>CCA364439949PKHD1c.6141T>G (p.Ile2047Met)
c.5499T>G (p.Ile1833Met)
c.5430T>G (p.Ile1810Met)
c.216T>G (p.Ile72Met)
c.6066T>G (p.Ile2022Met)
c.5877T>G (p.Ile1959Met)
c.4281T>G (p.Ile1427Met)
n.6417T>G
6g.51912557A>GCA450416043PKHD1c.6141T>C (p.Ile2047=)
c.5499T>C (p.Ile1833=)
c.5430T>C (p.Ile1810=)
c.216T>C (p.Ile72=)
c.6066T>C (p.Ile2022=)
c.5877T>C (p.Ile1959=)
c.4281T>C (p.Ile1427=)
n.6417T>C
6g.51912557A>TCA450416044PKHD1c.6141T>A (p.Ile2047=)
c.5499T>A (p.Ile1833=)
c.5430T>A (p.Ile1810=)
c.216T>A (p.Ile72=)
c.6066T>A (p.Ile2022=)
c.5877T>A (p.Ile1959=)
c.4281T>A (p.Ile1427=)
n.6417T>A
6g.51912558A=CA1628583530PKHD1c.6140T= (p.Ile2047=)
c.5498T= (p.Ile1833=)
c.5429T= (p.Ile1810=)
c.215T= (p.Ile72=)
c.6065T= (p.Ile2022=)
c.5876T= (p.Ile1959=)
c.4280T= (p.Ile1427=)
n.6416T=
6g.51912558A>CCA364439950PKHD1c.6140T>G (p.Ile2047Ser)
c.5498T>G (p.Ile1833Ser)
c.5429T>G (p.Ile1810Ser)
c.215T>G (p.Ile72Ser)
c.6065T>G (p.Ile2022Ser)
c.5876T>G (p.Ile1959Ser)
c.4280T>G (p.Ile1427Ser)
n.6416T>G
6g.51912558A>GCA364439952PKHD1c.6140T>C (p.Ile2047Thr)
c.5498T>C (p.Ile1833Thr)
c.5429T>C (p.Ile1810Thr)
c.215T>C (p.Ile72Thr)
c.6065T>C (p.Ile2022Thr)
c.5876T>C (p.Ile1959Thr)
c.4280T>C (p.Ile1427Thr)
n.6416T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51912558A>TCA364439951PKHD1c.6140T>A (p.Ile2047Asn)
c.5498T>A (p.Ile1833Asn)
c.5429T>A (p.Ile1810Asn)
c.215T>A (p.Ile72Asn)
c.6065T>A (p.Ile2022Asn)
c.5876T>A (p.Ile1959Asn)
c.4280T>A (p.Ile1427Asn)
n.6416T>A
6g.51912559T>ACA364439953PKHD1c.6139A>T (p.Ile2047Phe)
c.5497A>T (p.Ile1833Phe)
c.5428A>T (p.Ile1810Phe)
c.214A>T (p.Ile72Phe)
c.6064A>T (p.Ile2022Phe)
c.5875A>T (p.Ile1959Phe)
c.4279A>T (p.Ile1427Phe)
n.6415A>T
6g.51912559T>CCA364439954PKHD1c.6139A>G (p.Ile2047Val)
c.5497A>G (p.Ile1833Val)
c.5428A>G (p.Ile1810Val)
c.214A>G (p.Ile72Val)
c.6064A>G (p.Ile2022Val)
c.5875A>G (p.Ile1959Val)
c.4279A>G (p.Ile1427Val)
n.6415A>G
 gnomAD v4
6g.51912559T>GCA364439955PKHD1c.6139A>C (p.Ile2047Leu)
c.5497A>C (p.Ile1833Leu)
c.5428A>C (p.Ile1810Leu)
c.214A>C (p.Ile72Leu)
c.6064A>C (p.Ile2022Leu)
c.5875A>C (p.Ile1959Leu)
c.4279A>C (p.Ile1427Leu)
n.6415A>C
6g.51912560T>ACA450416045PKHD1c.6138A>T (p.Val2046=)
c.5496A>T (p.Val1832=)
c.5427A>T (p.Val1809=)
c.213A>T (p.Val71=)
c.6063A>T (p.Val2021=)
c.5874A>T (p.Val1958=)
c.4278A>T (p.Val1426=)
n.6414A>T
6g.51912560T>CCA3852322PKHD1c.6138A>G (p.Val2046=)
c.5496A>G (p.Val1832=)
c.5427A>G (p.Val1809=)
c.213A>G (p.Val71=)
c.6063A>G (p.Val2021=)
c.5874A>G (p.Val1958=)
c.4278A>G (p.Val1426=)
n.6414A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912560T>GCA450416046PKHD1c.6138A>C (p.Val2046=)
c.5496A>C (p.Val1832=)
c.5427A>C (p.Val1809=)
c.213A>C (p.Val71=)
c.6063A>C (p.Val2021=)
c.5874A>C (p.Val1958=)
c.4278A>C (p.Val1426=)
n.6414A>C
6g.51912560T=CA1628583533PKHD1c.6138A= (p.Val2046=)
c.5496A= (p.Val1832=)
c.5427A= (p.Val1809=)
c.213A= (p.Val71=)
c.6063A= (p.Val2021=)
c.5874A= (p.Val1958=)
c.4278A= (p.Val1426=)
n.6414A=
6g.51912561A>CCA364439956PKHD1c.6137T>G (p.Val2046Gly)
c.5495T>G (p.Val1832Gly)
c.5426T>G (p.Val1809Gly)
c.212T>G (p.Val71Gly)
c.6062T>G (p.Val2021Gly)
c.5873T>G (p.Val1958Gly)
c.4277T>G (p.Val1426Gly)
n.6413T>G
6g.51912561A>GCA364439958PKHD1c.6137T>C (p.Val2046Ala)
c.5495T>C (p.Val1832Ala)
c.5426T>C (p.Val1809Ala)
c.212T>C (p.Val71Ala)
c.6062T>C (p.Val2021Ala)
c.5873T>C (p.Val1958Ala)
c.4277T>C (p.Val1426Ala)
n.6413T>C
6g.51912561A>TCA364439957PKHD1c.6137T>A (p.Val2046Glu)
c.5495T>A (p.Val1832Glu)
c.5426T>A (p.Val1809Glu)
c.212T>A (p.Val71Glu)
c.6062T>A (p.Val2021Glu)
c.5873T>A (p.Val1958Glu)
c.4277T>A (p.Val1426Glu)
n.6413T>A
6g.51912562C>ACA364439959PKHD1c.6136G>T (p.Val2046Leu)
c.5494G>T (p.Val1832Leu)
c.5425G>T (p.Val1809Leu)
c.211G>T (p.Val71Leu)
c.6061G>T (p.Val2021Leu)
c.5872G>T (p.Val1958Leu)
c.4276G>T (p.Val1426Leu)
n.6412G>T
6g.51912562C>GCA364439960PKHD1c.6136G>C (p.Val2046Leu)
c.5494G>C (p.Val1832Leu)
c.5425G>C (p.Val1809Leu)
c.211G>C (p.Val71Leu)
c.6061G>C (p.Val2021Leu)
c.5872G>C (p.Val1958Leu)
c.4276G>C (p.Val1426Leu)
n.6412G>C
6g.51912562C>TCA364439961PKHD1c.6136G>A (p.Val2046Ile)
c.5494G>A (p.Val1832Ile)
c.5425G>A (p.Val1809Ile)
c.211G>A (p.Val71Ile)
c.6061G>A (p.Val2021Ile)
c.5872G>A (p.Val1958Ile)
c.4276G>A (p.Val1426Ile)
n.6412G>A
 gnomAD v4
6g.51912563T>ACA364439962PKHD1c.6135A>T (p.Glu2045Asp)
c.5493A>T (p.Glu1831Asp)
c.5424A>T (p.Glu1808Asp)
c.210A>T (p.Glu70Asp)
c.6060A>T (p.Glu2020Asp)
c.5871A>T (p.Glu1957Asp)
c.4275A>T (p.Glu1425Asp)
n.6411A>T
6g.51912563T>CCA3852323PKHD1c.6135A>G (p.Glu2045=)
c.5493A>G (p.Glu1831=)
c.5424A>G (p.Glu1808=)
c.210A>G (p.Glu70=)
c.6060A>G (p.Glu2020=)
c.5871A>G (p.Glu1957=)
c.4275A>G (p.Glu1425=)
n.6411A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51912563T>GCA364439963PKHD1c.6135A>C (p.Glu2045Asp)
c.5493A>C (p.Glu1831Asp)
c.5424A>C (p.Glu1808Asp)
c.210A>C (p.Glu70Asp)
c.6060A>C (p.Glu2020Asp)
c.5871A>C (p.Glu1957Asp)
c.4275A>C (p.Glu1425Asp)
n.6411A>C
6g.51912563T=CA1628583537PKHD1c.6135A= (p.Glu2045=)
c.5493A= (p.Glu1831=)
c.5424A= (p.Glu1808=)
c.210A= (p.Glu70=)
c.6060A= (p.Glu2020=)
c.5871A= (p.Glu1957=)
c.4275A= (p.Glu1425=)
n.6411A=
6g.51912564T>ACA364439964PKHD1c.6134A>T (p.Glu2045Val)
c.5492A>T (p.Glu1831Val)
c.5423A>T (p.Glu1808Val)
c.209A>T (p.Glu70Val)
c.6059A>T (p.Glu2020Val)
c.5870A>T (p.Glu1957Val)
c.4274A>T (p.Glu1425Val)
n.6410A>T
6g.51912564T>CCA364439965PKHD1c.6134A>G (p.Glu2045Gly)
c.5492A>G (p.Glu1831Gly)
c.5423A>G (p.Glu1808Gly)
c.209A>G (p.Glu70Gly)
c.6059A>G (p.Glu2020Gly)
c.5870A>G (p.Glu1957Gly)
c.4274A>G (p.Glu1425Gly)
n.6410A>G
6g.51912564T>GCA364439966PKHD1c.6134A>C (p.Glu2045Ala)
c.5492A>C (p.Glu1831Ala)
c.5423A>C (p.Glu1808Ala)
c.209A>C (p.Glu70Ala)
c.6059A>C (p.Glu2020Ala)
c.5870A>C (p.Glu1957Ala)
c.4274A>C (p.Glu1425Ala)
n.6410A>C
6g.51912565C>ACA364439967PKHD1c.6133G>T (p.Glu2045Ter)
c.5491G>T (p.Glu1831Ter)
c.5422G>T (p.Glu1808Ter)
c.208G>T (p.Glu70Ter)
c.6058G>T (p.Glu2020Ter)
c.5869G>T (p.Glu1957Ter)
c.4273G>T (p.Glu1425Ter)
n.6409G>T
6g.51912565C>GCA364439968PKHD1c.6133G>C (p.Glu2045Gln)
c.5491G>C (p.Glu1831Gln)
c.5422G>C (p.Glu1808Gln)
c.208G>C (p.Glu70Gln)
c.6058G>C (p.Glu2020Gln)
c.5869G>C (p.Glu1957Gln)
c.4273G>C (p.Glu1425Gln)
n.6409G>C
6g.51912565C>TCA364439969PKHD1c.6133G>A (p.Glu2045Lys)
c.5491G>A (p.Glu1831Lys)
c.5422G>A (p.Glu1808Lys)
c.208G>A (p.Glu70Lys)
c.6058G>A (p.Glu2020Lys)
c.5869G>A (p.Glu1957Lys)
c.4273G>A (p.Glu1425Lys)
n.6409G>A
6g.51912566T>ACA450416047PKHD1c.6132A>T (p.Pro2044=)
c.5490A>T (p.Pro1830=)
c.5421A>T (p.Pro1807=)
c.207A>T (p.Pro69=)
c.6057A>T (p.Pro2019=)
c.5868A>T (p.Pro1956=)
c.4272A>T (p.Pro1424=)
n.6408A>T
6g.51912566T>CCA450416049PKHD1c.6132A>G (p.Pro2044=)
c.5490A>G (p.Pro1830=)
c.5421A>G (p.Pro1807=)
c.207A>G (p.Pro69=)
c.6057A>G (p.Pro2019=)
c.5868A>G (p.Pro1956=)
c.4272A>G (p.Pro1424=)
n.6408A>G
6g.51912566T>GCA450416048PKHD1c.6132A>C (p.Pro2044=)
c.5490A>C (p.Pro1830=)
c.5421A>C (p.Pro1807=)
c.207A>C (p.Pro69=)
c.6057A>C (p.Pro2019=)
c.5868A>C (p.Pro1956=)
c.4272A>C (p.Pro1424=)
n.6408A>C
6g.51912567G>ACA364439971PKHD1c.6131C>T (p.Pro2044Leu)
c.5489C>T (p.Pro1830Leu)
c.5420C>T (p.Pro1807Leu)
c.206C>T (p.Pro69Leu)
c.6056C>T (p.Pro2019Leu)
c.5867C>T (p.Pro1956Leu)
c.4271C>T (p.Pro1424Leu)
n.6407C>T
6g.51912567G>CCA364439972PKHD1c.6131C>G (p.Pro2044Arg)
c.5489C>G (p.Pro1830Arg)
c.5420C>G (p.Pro1807Arg)
c.206C>G (p.Pro69Arg)
c.6056C>G (p.Pro2019Arg)
c.5867C>G (p.Pro1956Arg)
c.4271C>G (p.Pro1424Arg)
n.6407C>G
 dbSNP gnomAD v2 gnomAD v4
6g.51912567G=CA1628583541PKHD1c.6131C= (p.Pro2044=)
c.5489C= (p.Pro1830=)
c.5420C= (p.Pro1807=)
c.206C= (p.Pro69=)
c.6056C= (p.Pro2019=)
c.5867C= (p.Pro1956=)
c.4271C= (p.Pro1424=)
n.6407C=
6g.51912567G>TCA364439970PKHD1c.6131C>A (p.Pro2044Gln)
c.5489C>A (p.Pro1830Gln)
c.5420C>A (p.Pro1807Gln)
c.206C>A (p.Pro69Gln)
c.6056C>A (p.Pro2019Gln)
c.5867C>A (p.Pro1956Gln)
c.4271C>A (p.Pro1424Gln)
n.6407C>A
6g.51912568G>ACA3852324PKHD1c.6130C>T (p.Pro2044Ser)
c.5488C>T (p.Pro1830Ser)
c.5419C>T (p.Pro1807Ser)
c.205C>T (p.Pro69Ser)
c.6055C>T (p.Pro2019Ser)
c.5866C>T (p.Pro1956Ser)
c.4270C>T (p.Pro1424Ser)
n.6406C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51912568G>CCA364439974PKHD1c.6130C>G (p.Pro2044Ala)
c.5488C>G (p.Pro1830Ala)
c.5419C>G (p.Pro1807Ala)
c.205C>G (p.Pro69Ala)
c.6055C>G (p.Pro2019Ala)
c.5866C>G (p.Pro1956Ala)
c.4270C>G (p.Pro1424Ala)
n.6406C>G
6g.51912568G=CA1628583549PKHD1c.6130C= (p.Pro2044=)
c.5488C= (p.Pro1830=)
c.5419C= (p.Pro1807=)
c.205C= (p.Pro69=)
c.6055C= (p.Pro2019=)
c.5866C= (p.Pro1956=)
c.4270C= (p.Pro1424=)
n.6406C=
6g.51912568G>TCA364439973PKHD1c.6130C>A (p.Pro2044Thr)
c.5488C>A (p.Pro1830Thr)
c.5419C>A (p.Pro1807Thr)
c.205C>A (p.Pro69Thr)
c.6055C>A (p.Pro2019Thr)
c.5866C>A (p.Pro1956Thr)
c.4270C>A (p.Pro1424Thr)
n.6406C>A
6g.51912569T>ACA450416050PKHD1c.6129A>T (p.Leu2043=)
c.5487A>T (p.Leu1829=)
c.5418A>T (p.Leu1806=)
c.204A>T (p.Leu68=)
c.6054A>T (p.Leu2018=)
c.5865A>T (p.Leu1955=)
c.4269A>T (p.Leu1423=)
n.6405A>T
6g.51912569T>CCA450416051PKHD1c.6129A>G (p.Leu2043=)
c.5487A>G (p.Leu1829=)
c.5418A>G (p.Leu1806=)
c.204A>G (p.Leu68=)
c.6054A>G (p.Leu2018=)
c.5865A>G (p.Leu1955=)
c.4269A>G (p.Leu1423=)
n.6405A>G
6g.51912569T>GCA450416052PKHD1c.6129A>C (p.Leu2043=)
c.5487A>C (p.Leu1829=)
c.5418A>C (p.Leu1806=)
c.204A>C (p.Leu68=)
c.6054A>C (p.Leu2018=)
c.5865A>C (p.Leu1955=)
c.4269A>C (p.Leu1423=)
n.6405A>C
6g.51912570A>CCA364439975PKHD1c.6128T>G (p.Leu2043Arg)
c.5486T>G (p.Leu1829Arg)
c.5417T>G (p.Leu1806Arg)
c.203T>G (p.Leu68Arg)
c.6053T>G (p.Leu2018Arg)
c.5864T>G (p.Leu1955Arg)
c.4268T>G (p.Leu1423Arg)
n.6404T>G
6g.51912570A>GCA364439977PKHD1c.6128T>C (p.Leu2043Pro)
c.5486T>C (p.Leu1829Pro)
c.5417T>C (p.Leu1806Pro)
c.203T>C (p.Leu68Pro)
c.6053T>C (p.Leu2018Pro)
c.5864T>C (p.Leu1955Pro)
c.4268T>C (p.Leu1423Pro)
n.6404T>C
 gnomAD v4
6g.51912570A>TCA364439976PKHD1c.6128T>A (p.Leu2043Gln)
c.5486T>A (p.Leu1829Gln)
c.5417T>A (p.Leu1806Gln)
c.203T>A (p.Leu68Gln)
c.6053T>A (p.Leu2018Gln)
c.5864T>A (p.Leu1955Gln)
c.4268T>A (p.Leu1423Gln)
n.6404T>A
6g.51912571G>ACA450416053PKHD1c.6127C>T (p.Leu2043=)
c.5485C>T (p.Leu1829=)
c.5416C>T (p.Leu1806=)
c.202C>T (p.Leu68=)
c.6052C>T (p.Leu2018=)
c.5863C>T (p.Leu1955=)
c.4267C>T (p.Leu1423=)
n.6403C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51912571G>CCA364439978PKHD1c.6127C>G (p.Leu2043Val)
c.5485C>G (p.Leu1829Val)
c.5416C>G (p.Leu1806Val)
c.202C>G (p.Leu68Val)
c.6052C>G (p.Leu2018Val)
c.5863C>G (p.Leu1955Val)
c.4267C>G (p.Leu1423Val)
n.6403C>G
6g.51912571G=CA1628583552PKHD1c.6127C= (p.Leu2043=)
c.5485C= (p.Leu1829=)
c.5416C= (p.Leu1806=)
c.202C= (p.Leu68=)
c.6052C= (p.Leu2018=)
c.5863C= (p.Leu1955=)
c.4267C= (p.Leu1423=)
n.6403C=
6g.51912571G>TCA364439979PKHD1c.6127C>A (p.Leu2043Ile)
c.5485C>A (p.Leu1829Ile)
c.5416C>A (p.Leu1806Ile)
c.202C>A (p.Leu68Ile)
c.6052C>A (p.Leu2018Ile)
c.5863C>A (p.Leu1955Ile)
c.4267C>A (p.Leu1423Ile)
n.6403C>A
6g.51912572T>ACA450416054PKHD1c.6126A>T (p.Ser2042=)
c.5484A>T (p.Ser1828=)
c.5415A>T (p.Ser1805=)
c.201A>T (p.Ser67=)
c.6051A>T (p.Ser2017=)
c.5862A>T (p.Ser1954=)
c.4266A>T (p.Ser1422=)
n.6402A>T
6g.51912572T>CCA450416055PKHD1c.6126A>G (p.Ser2042=)
c.5484A>G (p.Ser1828=)
c.5415A>G (p.Ser1805=)
c.201A>G (p.Ser67=)
c.6051A>G (p.Ser2017=)
c.5862A>G (p.Ser1954=)
c.4266A>G (p.Ser1422=)
n.6402A>G
 ClinVar
6g.51912572T>GCA450416056PKHD1c.6126A>C (p.Ser2042=)
c.5484A>C (p.Ser1828=)
c.5415A>C (p.Ser1805=)
c.201A>C (p.Ser67=)
c.6051A>C (p.Ser2017=)
c.5862A>C (p.Ser1954=)
c.4266A>C (p.Ser1422=)
n.6402A>C

Number of alleles fetched