Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched