Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched