Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51855939delCA16041039PKHD1c.7866del (p.Tyr2623ThrfsTer?)
c.7224del (p.Tyr2409ThrfsTer?)
c.7155del (p.Tyr2386ThrfsTer?)
c.1941del (p.Tyr648ThrfsTer?)
c.7791del (p.Tyr2598ThrfsTer?)
c.7602del (p.Tyr2535ThrfsTer?)
c.6006del (p.Tyr2003ThrfsTer?)
n.8142del
 ClinVar dbSNP
6g.51855939G>ACA364433717PKHD1c.7865C>T (p.Thr2622Ile)
c.7223C>T (p.Thr2408Ile)
c.7154C>T (p.Thr2385Ile)
c.1940C>T (p.Thr647Ile)
c.7790C>T (p.Thr2597Ile)
c.7601C>T (p.Thr2534Ile)
c.6005C>T (p.Thr2002Ile)
n.8141C>T
6g.51855939G>CCA364433710PKHD1c.7865C>G (p.Thr2622Ser)
c.7223C>G (p.Thr2408Ser)
c.7154C>G (p.Thr2385Ser)
c.1940C>G (p.Thr647Ser)
c.7790C>G (p.Thr2597Ser)
c.7601C>G (p.Thr2534Ser)
c.6005C>G (p.Thr2002Ser)
n.8141C>G
6g.51855939G>TCA364433708PKHD1c.7865C>A (p.Thr2622Asn)
c.7223C>A (p.Thr2408Asn)
c.7154C>A (p.Thr2385Asn)
c.1940C>A (p.Thr647Asn)
c.7790C>A (p.Thr2597Asn)
c.7601C>A (p.Thr2534Asn)
c.6005C>A (p.Thr2002Asn)
n.8141C>A
6g.51855940T>ACA364433721PKHD1c.7864A>T (p.Thr2622Ser)
c.7222A>T (p.Thr2408Ser)
c.7153A>T (p.Thr2385Ser)
c.1939A>T (p.Thr647Ser)
c.7789A>T (p.Thr2597Ser)
c.7600A>T (p.Thr2534Ser)
c.6004A>T (p.Thr2002Ser)
n.8140A>T
6g.51855940T>CCA3851813PKHD1c.7864A>G (p.Thr2622Ala)
c.7222A>G (p.Thr2408Ala)
c.7153A>G (p.Thr2385Ala)
c.1939A>G (p.Thr647Ala)
c.7789A>G (p.Thr2597Ala)
c.7600A>G (p.Thr2534Ala)
c.6004A>G (p.Thr2002Ala)
n.8140A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51855940T>GCA364433722PKHD1c.7864A>C (p.Thr2622Pro)
c.7222A>C (p.Thr2408Pro)
c.7153A>C (p.Thr2385Pro)
c.1939A>C (p.Thr647Pro)
c.7789A>C (p.Thr2597Pro)
c.7600A>C (p.Thr2534Pro)
c.6004A>C (p.Thr2002Pro)
n.8140A>C
6g.51855940T=CA1628573477PKHD1c.7864A= (p.Thr2622=)
c.7222A= (p.Thr2408=)
c.7153A= (p.Thr2385=)
c.1939A= (p.Thr647=)
c.7789A= (p.Thr2597=)
c.7600A= (p.Thr2534=)
c.6004A= (p.Thr2002=)
n.8140A=
6g.51855941C>ACA364433723PKHD1c.7863G>T (p.Glu2621Asp)
c.7221G>T (p.Glu2407Asp)
c.7152G>T (p.Glu2384Asp)
c.1938G>T (p.Glu646Asp)
c.7788G>T (p.Glu2596Asp)
c.7599G>T (p.Glu2533Asp)
c.6003G>T (p.Glu2001Asp)
n.8139G>T
 COSMIC COSMIC
6g.51855941C=CA1628573482PKHD1c.7863G= (p.Glu2621=)
c.7221G= (p.Glu2407=)
c.7152G= (p.Glu2384=)
c.1938G= (p.Glu646=)
c.7788G= (p.Glu2596=)
c.7599G= (p.Glu2533=)
c.6003G= (p.Glu2001=)
n.8139G=
6g.51855941C>GCA364433737PKHD1c.7863G>C (p.Glu2621Asp)
c.7221G>C (p.Glu2407Asp)
c.7152G>C (p.Glu2384Asp)
c.1938G>C (p.Glu646Asp)
c.7788G>C (p.Glu2596Asp)
c.7599G>C (p.Glu2533Asp)
c.6003G>C (p.Glu2001Asp)
n.8139G>C
6g.51855941C>TCA3851814PKHD1c.7863G>A (p.Glu2621=)
c.7221G>A (p.Glu2407=)
c.7152G>A (p.Glu2384=)
c.1938G>A (p.Glu646=)
c.7788G>A (p.Glu2596=)
c.7599G>A (p.Glu2533=)
c.6003G>A (p.Glu2001=)
n.8139G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51855942T>ACA364433738PKHD1c.7862A>T (p.Glu2621Val)
c.7220A>T (p.Glu2407Val)
c.7151A>T (p.Glu2384Val)
c.1937A>T (p.Glu646Val)
c.7787A>T (p.Glu2596Val)
c.7598A>T (p.Glu2533Val)
c.6002A>T (p.Glu2001Val)
n.8138A>T
6g.51855942T>CCA364433739PKHD1c.7862A>G (p.Glu2621Gly)
c.7220A>G (p.Glu2407Gly)
c.7151A>G (p.Glu2384Gly)
c.1937A>G (p.Glu646Gly)
c.7787A>G (p.Glu2596Gly)
c.7598A>G (p.Glu2533Gly)
c.6002A>G (p.Glu2001Gly)
n.8138A>G
6g.51855942T>GCA364433741PKHD1c.7862A>C (p.Glu2621Ala)
c.7220A>C (p.Glu2407Ala)
c.7151A>C (p.Glu2384Ala)
c.1937A>C (p.Glu646Ala)
c.7787A>C (p.Glu2596Ala)
c.7598A>C (p.Glu2533Ala)
c.6002A>C (p.Glu2001Ala)
n.8138A>C
6g.51855943C>ACA364433744PKHD1c.7861G>T (p.Glu2621Ter)
c.7219G>T (p.Glu2407Ter)
c.7150G>T (p.Glu2384Ter)
c.1936G>T (p.Glu646Ter)
c.7786G>T (p.Glu2596Ter)
c.7597G>T (p.Glu2533Ter)
c.6001G>T (p.Glu2001Ter)
n.8137G>T
6g.51855943C>GCA364433747PKHD1c.7861G>C (p.Glu2621Gln)
c.7219G>C (p.Glu2407Gln)
c.7150G>C (p.Glu2384Gln)
c.1936G>C (p.Glu646Gln)
c.7786G>C (p.Glu2596Gln)
c.7597G>C (p.Glu2533Gln)
c.6001G>C (p.Glu2001Gln)
n.8137G>C
6g.51855943C>TCA364433750PKHD1c.7861G>A (p.Glu2621Lys)
c.7219G>A (p.Glu2407Lys)
c.7150G>A (p.Glu2384Lys)
c.1936G>A (p.Glu646Lys)
c.7786G>A (p.Glu2596Lys)
c.7597G>A (p.Glu2533Lys)
c.6001G>A (p.Glu2001Lys)
n.8137G>A
 gnomAD v4
6g.51855944T>ACA364433753PKHD1c.7860A>T (p.Gln2620His)
c.7218A>T (p.Gln2406His)
c.7149A>T (p.Gln2383His)
c.1935A>T (p.Gln645His)
c.7785A>T (p.Gln2595His)
c.7596A>T (p.Gln2532His)
c.6000A>T (p.Gln2000His)
n.8136A>T
6g.51855944T>CCA138913649PKHD1c.7860A>G (p.Gln2620=)
c.7218A>G (p.Gln2406=)
c.7149A>G (p.Gln2383=)
c.1935A>G (p.Gln645=)
c.7785A>G (p.Gln2595=)
c.7596A>G (p.Gln2532=)
c.6000A>G (p.Gln2000=)
n.8136A>G
 dbSNP
6g.51855944T>GCA364433756PKHD1c.7860A>C (p.Gln2620His)
c.7218A>C (p.Gln2406His)
c.7149A>C (p.Gln2383His)
c.1935A>C (p.Gln645His)
c.7785A>C (p.Gln2595His)
c.7596A>C (p.Gln2532His)
c.6000A>C (p.Gln2000His)
n.8136A>C
6g.51855944T=CA1628573485PKHD1c.7860A= (p.Gln2620=)
c.7218A= (p.Gln2406=)
c.7149A= (p.Gln2383=)
c.1935A= (p.Gln645=)
c.7785A= (p.Gln2595=)
c.7596A= (p.Gln2532=)
c.6000A= (p.Gln2000=)
n.8136A=
6g.51855945T>ACA364433759PKHD1c.7859A>T (p.Gln2620Leu)
c.7217A>T (p.Gln2406Leu)
c.7148A>T (p.Gln2383Leu)
c.1934A>T (p.Gln645Leu)
c.7784A>T (p.Gln2595Leu)
c.7595A>T (p.Gln2532Leu)
c.5999A>T (p.Gln2000Leu)
n.8135A>T
 COSMIC COSMIC
6g.51855945T>CCA3851815PKHD1c.7859A>G (p.Gln2620Arg)
c.7217A>G (p.Gln2406Arg)
c.7148A>G (p.Gln2383Arg)
c.1934A>G (p.Gln645Arg)
c.7784A>G (p.Gln2595Arg)
c.7595A>G (p.Gln2532Arg)
c.5999A>G (p.Gln2000Arg)
n.8135A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51855945T>GCA364433767PKHD1c.7859A>C (p.Gln2620Pro)
c.7217A>C (p.Gln2406Pro)
c.7148A>C (p.Gln2383Pro)
c.1934A>C (p.Gln645Pro)
c.7784A>C (p.Gln2595Pro)
c.7595A>C (p.Gln2532Pro)
c.5999A>C (p.Gln2000Pro)
n.8135A>C
6g.51855945T=CA1628573488PKHD1c.7859A= (p.Gln2620=)
c.7217A= (p.Gln2406=)
c.7148A= (p.Gln2383=)
c.1934A= (p.Gln645=)
c.7784A= (p.Gln2595=)
c.7595A= (p.Gln2532=)
c.5999A= (p.Gln2000=)
n.8135A=
6g.51855946G>ACA3851816PKHD1c.7858C>T (p.Gln2620Ter)
c.7216C>T (p.Gln2406Ter)
c.7147C>T (p.Gln2383Ter)
c.1933C>T (p.Gln645Ter)
c.7783C>T (p.Gln2595Ter)
c.7594C>T (p.Gln2532Ter)
c.5998C>T (p.Gln2000Ter)
n.8134C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51855946G>CCA364433770PKHD1c.7858C>G (p.Gln2620Glu)
c.7216C>G (p.Gln2406Glu)
c.7147C>G (p.Gln2383Glu)
c.1933C>G (p.Gln645Glu)
c.7783C>G (p.Gln2595Glu)
c.7594C>G (p.Gln2532Glu)
c.5998C>G (p.Gln2000Glu)
n.8134C>G
 dbSNP gnomAD v3 gnomAD v4
6g.51855946G=CA1628573490PKHD1c.7858C= (p.Gln2620=)
c.7216C= (p.Gln2406=)
c.7147C= (p.Gln2383=)
c.1933C= (p.Gln645=)
c.7783C= (p.Gln2595=)
c.7594C= (p.Gln2532=)
c.5998C= (p.Gln2000=)
n.8134C=
6g.51855946G>TCA364433771PKHD1c.7858C>A (p.Gln2620Lys)
c.7216C>A (p.Gln2406Lys)
c.7147C>A (p.Gln2383Lys)
c.1933C>A (p.Gln645Lys)
c.7783C>A (p.Gln2595Lys)
c.7594C>A (p.Gln2532Lys)
c.5998C>A (p.Gln2000Lys)
n.8134C>A
6g.51855947G>ACA450416100PKHD1c.7857C>T (p.Asp2619=)
c.7215C>T (p.Asp2405=)
c.7146C>T (p.Asp2382=)
c.1932C>T (p.Asp644=)
c.7782C>T (p.Asp2594=)
c.7593C>T (p.Asp2531=)
c.5997C>T (p.Asp1999=)
n.8133C>T
6g.51855947G>CCA364433772PKHD1c.7857C>G (p.Asp2619Glu)
c.7215C>G (p.Asp2405Glu)
c.7146C>G (p.Asp2382Glu)
c.1932C>G (p.Asp644Glu)
c.7782C>G (p.Asp2594Glu)
c.7593C>G (p.Asp2531Glu)
c.5997C>G (p.Asp1999Glu)
n.8133C>G
6g.51855947G>TCA364433773PKHD1c.7857C>A (p.Asp2619Glu)
c.7215C>A (p.Asp2405Glu)
c.7146C>A (p.Asp2382Glu)
c.1932C>A (p.Asp644Glu)
c.7782C>A (p.Asp2594Glu)
c.7593C>A (p.Asp2531Glu)
c.5997C>A (p.Asp1999Glu)
n.8133C>A
6g.51855948T>ACA364433776PKHD1c.7856A>T (p.Asp2619Val)
c.7214A>T (p.Asp2405Val)
c.7145A>T (p.Asp2382Val)
c.1931A>T (p.Asp644Val)
c.7781A>T (p.Asp2594Val)
c.7592A>T (p.Asp2531Val)
c.5996A>T (p.Asp1999Val)
n.8132A>T
6g.51855948T>CCA364433777PKHD1c.7856A>G (p.Asp2619Gly)
c.7214A>G (p.Asp2405Gly)
c.7145A>G (p.Asp2382Gly)
c.1931A>G (p.Asp644Gly)
c.7781A>G (p.Asp2594Gly)
c.7592A>G (p.Asp2531Gly)
c.5996A>G (p.Asp1999Gly)
n.8132A>G
 gnomAD v4
6g.51855948T>GCA364433778PKHD1c.7856A>C (p.Asp2619Ala)
c.7214A>C (p.Asp2405Ala)
c.7145A>C (p.Asp2382Ala)
c.1931A>C (p.Asp644Ala)
c.7781A>C (p.Asp2594Ala)
c.7592A>C (p.Asp2531Ala)
c.5996A>C (p.Asp1999Ala)
n.8132A>C
6g.51855949C>ACA364433779PKHD1c.7855G>T (p.Asp2619Tyr)
c.7213G>T (p.Asp2405Tyr)
c.7144G>T (p.Asp2382Tyr)
c.1930G>T (p.Asp644Tyr)
c.7780G>T (p.Asp2594Tyr)
c.7591G>T (p.Asp2531Tyr)
c.5995G>T (p.Asp1999Tyr)
n.8131G>T
6g.51855949C>GCA364433781PKHD1c.7855G>C (p.Asp2619His)
c.7213G>C (p.Asp2405His)
c.7144G>C (p.Asp2382His)
c.1930G>C (p.Asp644His)
c.7780G>C (p.Asp2594His)
c.7591G>C (p.Asp2531His)
c.5995G>C (p.Asp1999His)
n.8131G>C
6g.51855949C>TCA364433785PKHD1c.7855G>A (p.Asp2619Asn)
c.7213G>A (p.Asp2405Asn)
c.7144G>A (p.Asp2382Asn)
c.1930G>A (p.Asp644Asn)
c.7780G>A (p.Asp2594Asn)
c.7591G>A (p.Asp2531Asn)
c.5995G>A (p.Asp1999Asn)
n.8131G>A
6g.51855950C>ACA364433788PKHD1c.7854G>T (p.Leu2618Phe)
c.7212G>T (p.Leu2404Phe)
c.7143G>T (p.Leu2381Phe)
c.1929G>T (p.Leu643Phe)
c.7779G>T (p.Leu2593Phe)
c.7590G>T (p.Leu2530Phe)
c.5994G>T (p.Leu1998Phe)
n.8130G>T
 gnomAD v4
6g.51855950C>GCA364433792PKHD1c.7854G>C (p.Leu2618Phe)
c.7212G>C (p.Leu2404Phe)
c.7143G>C (p.Leu2381Phe)
c.1929G>C (p.Leu643Phe)
c.7779G>C (p.Leu2593Phe)
c.7590G>C (p.Leu2530Phe)
c.5994G>C (p.Leu1998Phe)
n.8130G>C
6g.51855950C>TCA450416101PKHD1c.7854G>A (p.Leu2618=)
c.7212G>A (p.Leu2404=)
c.7143G>A (p.Leu2381=)
c.1929G>A (p.Leu643=)
c.7779G>A (p.Leu2593=)
c.7590G>A (p.Leu2530=)
c.5994G>A (p.Leu1998=)
n.8130G>A
6g.51855951A>CCA364433800PKHD1c.7853T>G (p.Leu2618Trp)
c.7211T>G (p.Leu2404Trp)
c.7142T>G (p.Leu2381Trp)
c.1928T>G (p.Leu643Trp)
c.7778T>G (p.Leu2593Trp)
c.7589T>G (p.Leu2530Trp)
c.5993T>G (p.Leu1998Trp)
n.8129T>G
6g.51855951A>GCA364433803PKHD1c.7853T>C (p.Leu2618Ser)
c.7211T>C (p.Leu2404Ser)
c.7142T>C (p.Leu2381Ser)
c.1928T>C (p.Leu643Ser)
c.7778T>C (p.Leu2593Ser)
c.7589T>C (p.Leu2530Ser)
c.5993T>C (p.Leu1998Ser)
n.8129T>C
6g.51855951A>TCA364433796PKHD1c.7853T>A (p.Leu2618Ter)
c.7211T>A (p.Leu2404Ter)
c.7142T>A (p.Leu2381Ter)
c.1928T>A (p.Leu643Ter)
c.7778T>A (p.Leu2593Ter)
c.7589T>A (p.Leu2530Ter)
c.5993T>A (p.Leu1998Ter)
n.8129T>A
 gnomAD v4
6g.51855952A>CCA364433806PKHD1c.7852T>G (p.Leu2618Val)
c.7210T>G (p.Leu2404Val)
c.7141T>G (p.Leu2381Val)
c.1927T>G (p.Leu643Val)
c.7777T>G (p.Leu2593Val)
c.7588T>G (p.Leu2530Val)
c.5992T>G (p.Leu1998Val)
n.8128T>G
6g.51855952A>GCA450416102PKHD1c.7852T>C (p.Leu2618=)
c.7210T>C (p.Leu2404=)
c.7141T>C (p.Leu2381=)
c.1927T>C (p.Leu643=)
c.7777T>C (p.Leu2593=)
c.7588T>C (p.Leu2530=)
c.5992T>C (p.Leu1998=)
n.8128T>C
6g.51855952A>TCA364433807PKHD1c.7852T>A (p.Leu2618Met)
c.7210T>A (p.Leu2404Met)
c.7141T>A (p.Leu2381Met)
c.1927T>A (p.Leu643Met)
c.7777T>A (p.Leu2593Met)
c.7588T>A (p.Leu2530Met)
c.5992T>A (p.Leu1998Met)
n.8128T>A
6g.51855953G>ACA450416103PKHD1c.7851C>T (p.Leu2617=)
c.7209C>T (p.Leu2403=)
c.7140C>T (p.Leu2380=)
c.1926C>T (p.Leu642=)
c.7776C>T (p.Leu2592=)
c.7587C>T (p.Leu2529=)
c.5991C>T (p.Leu1997=)
n.8127C>T
6g.51855953G>CCA450416104PKHD1c.7851C>G (p.Leu2617=)
c.7209C>G (p.Leu2403=)
c.7140C>G (p.Leu2380=)
c.1926C>G (p.Leu642=)
c.7776C>G (p.Leu2592=)
c.7587C>G (p.Leu2529=)
c.5991C>G (p.Leu1997=)
n.8127C>G

Number of alleles fetched