Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51934237_51934241delCA2697553477PKHD1c.5994_5998del (p.Gly1999ArgfsTer?)
c.5352_5356del (p.Gly1785ArgfsTer?)
c.5283_5287del (p.Gly1762ArgfsTer?)
c.69_73del (p.Gly24ArgfsTer?)
c.5919_5923del (p.Gly1974ArgfsTer?)
c.5730_5734del (p.Gly1911ArgfsTer?)
c.4134_4138del (p.Gly1379ArgfsTer?)
n.6270_6274del
 ClinVar
6g.51934236C>ACA364417830PKHD1c.5995G>T (p.Gly1999Ter)
c.5353G>T (p.Gly1785Ter)
c.5284G>T (p.Gly1762Ter)
c.70G>T (p.Gly24Ter)
c.5920G>T (p.Gly1974Ter)
c.5731G>T (p.Gly1911Ter)
c.4135G>T (p.Gly1379Ter)
n.6271G>T
 ClinVar dbSNP
6g.51934236C>GCA364417831PKHD1c.5995G>C (p.Gly1999Arg)
c.5353G>C (p.Gly1785Arg)
c.5284G>C (p.Gly1762Arg)
c.70G>C (p.Gly24Arg)
c.5920G>C (p.Gly1974Arg)
c.5731G>C (p.Gly1911Arg)
c.4135G>C (p.Gly1379Arg)
n.6271G>C
6g.51934236C>TCA364417832PKHD1c.5995G>A (p.Gly1999Arg)
c.5353G>A (p.Gly1785Arg)
c.5284G>A (p.Gly1762Arg)
c.70G>A (p.Gly24Arg)
c.5920G>A (p.Gly1974Arg)
c.5731G>A (p.Gly1911Arg)
c.4135G>A (p.Gly1379Arg)
n.6271G>A
6g.51934237A>CCA364417833PKHD1c.5994T>G (p.Ile1998Met)
c.5352T>G (p.Ile1784Met)
c.5283T>G (p.Ile1761Met)
c.69T>G (p.Ile23Met)
c.5919T>G (p.Ile1973Met)
c.5730T>G (p.Ile1910Met)
c.4134T>G (p.Ile1378Met)
n.6270T>G
6g.51934237A>GCA450416274PKHD1c.5994T>C (p.Ile1998=)
c.5352T>C (p.Ile1784=)
c.5283T>C (p.Ile1761=)
c.69T>C (p.Ile23=)
c.5919T>C (p.Ile1973=)
c.5730T>C (p.Ile1910=)
c.4134T>C (p.Ile1378=)
n.6270T>C
 gnomAD v4
6g.51934237A>TCA450416275PKHD1c.5994T>A (p.Ile1998=)
c.5352T>A (p.Ile1784=)
c.5283T>A (p.Ile1761=)
c.69T>A (p.Ile23=)
c.5919T>A (p.Ile1973=)
c.5730T>A (p.Ile1910=)
c.4134T>A (p.Ile1378=)
n.6270T>A
6g.51934238A=CA1628551045PKHD1c.5993T= (p.Ile1998=)
c.5351T= (p.Ile1784=)
c.5282T= (p.Ile1761=)
c.68T= (p.Ile23=)
c.5918T= (p.Ile1973=)
c.5729T= (p.Ile1910=)
c.4133T= (p.Ile1378=)
n.6269T=
6g.51934238A>CCA364417836PKHD1c.5993T>G (p.Ile1998Ser)
c.5351T>G (p.Ile1784Ser)
c.5282T>G (p.Ile1761Ser)
c.68T>G (p.Ile23Ser)
c.5918T>G (p.Ile1973Ser)
c.5729T>G (p.Ile1910Ser)
c.4133T>G (p.Ile1378Ser)
n.6269T>G
6g.51934238A>GCA364417834PKHD1c.5993T>C (p.Ile1998Thr)
c.5351T>C (p.Ile1784Thr)
c.5282T>C (p.Ile1761Thr)
c.68T>C (p.Ile23Thr)
c.5918T>C (p.Ile1973Thr)
c.5729T>C (p.Ile1910Thr)
c.4133T>C (p.Ile1378Thr)
n.6269T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51934238A>TCA364417835PKHD1c.5993T>A (p.Ile1998Asn)
c.5351T>A (p.Ile1784Asn)
c.5282T>A (p.Ile1761Asn)
c.68T>A (p.Ile23Asn)
c.5918T>A (p.Ile1973Asn)
c.5729T>A (p.Ile1910Asn)
c.4133T>A (p.Ile1378Asn)
n.6269T>A
6g.51934239T>ACA364417837PKHD1c.5992A>T (p.Ile1998Phe)
c.5350A>T (p.Ile1784Phe)
c.5281A>T (p.Ile1761Phe)
c.67A>T (p.Ile23Phe)
c.5917A>T (p.Ile1973Phe)
c.5728A>T (p.Ile1910Phe)
c.4132A>T (p.Ile1378Phe)
n.6268A>T
6g.51934239T>CCA3852366PKHD1c.5992A>G (p.Ile1998Val)
c.5350A>G (p.Ile1784Val)
c.5281A>G (p.Ile1761Val)
c.67A>G (p.Ile23Val)
c.5917A>G (p.Ile1973Val)
c.5728A>G (p.Ile1910Val)
c.4132A>G (p.Ile1378Val)
n.6268A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51934239T>GCA364417838PKHD1c.5992A>C (p.Ile1998Leu)
c.5350A>C (p.Ile1784Leu)
c.5281A>C (p.Ile1761Leu)
c.67A>C (p.Ile23Leu)
c.5917A>C (p.Ile1973Leu)
c.5728A>C (p.Ile1910Leu)
c.4132A>C (p.Ile1378Leu)
n.6268A>C
6g.51934239T=CA1628551051PKHD1c.5992A= (p.Ile1998=)
c.5350A= (p.Ile1784=)
c.5281A= (p.Ile1761=)
c.67A= (p.Ile23=)
c.5917A= (p.Ile1973=)
c.5728A= (p.Ile1910=)
c.4132A= (p.Ile1378=)
n.6268A=
6g.51934240C>ACA450416276PKHD1c.5991G>T (p.Arg1997=)
c.5349G>T (p.Arg1783=)
c.5280G>T (p.Arg1760=)
c.66G>T (p.Arg22=)
c.5916G>T (p.Arg1972=)
c.5727G>T (p.Arg1909=)
c.4131G>T (p.Arg1377=)
n.6267G>T
6g.51934240C=CA1628551056PKHD1c.5991G= (p.Arg1997=)
c.5349G= (p.Arg1783=)
c.5280G= (p.Arg1760=)
c.66G= (p.Arg22=)
c.5916G= (p.Arg1972=)
c.5727G= (p.Arg1909=)
c.4131G= (p.Arg1377=)
n.6267G=
6g.51934240C>GCA450416277PKHD1c.5991G>C (p.Arg1997=)
c.5349G>C (p.Arg1783=)
c.5280G>C (p.Arg1760=)
c.66G>C (p.Arg22=)
c.5916G>C (p.Arg1972=)
c.5727G>C (p.Arg1909=)
c.4131G>C (p.Arg1377=)
n.6267G>C
6g.51934240C>TCA450416278PKHD1c.5991G>A (p.Arg1997=)
c.5349G>A (p.Arg1783=)
c.5280G>A (p.Arg1760=)
c.66G>A (p.Arg22=)
c.5916G>A (p.Arg1972=)
c.5727G>A (p.Arg1909=)
c.4131G>A (p.Arg1377=)
n.6267G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51934241C>ACA364417839PKHD1c.5990G>T (p.Arg1997Leu)
c.5348G>T (p.Arg1783Leu)
c.5279G>T (p.Arg1760Leu)
c.65G>T (p.Arg22Leu)
c.5915G>T (p.Arg1972Leu)
c.5726G>T (p.Arg1909Leu)
c.4130G>T (p.Arg1377Leu)
n.6266G>T
 gnomAD v4
6g.51934241C=CA1628551059PKHD1c.5990G= (p.Arg1997=)
c.5348G= (p.Arg1783=)
c.5279G= (p.Arg1760=)
c.65G= (p.Arg22=)
c.5915G= (p.Arg1972=)
c.5726G= (p.Arg1909=)
c.4130G= (p.Arg1377=)
n.6266G=
6g.51934241C>GCA364417840PKHD1c.5990G>C (p.Arg1997Pro)
c.5348G>C (p.Arg1783Pro)
c.5279G>C (p.Arg1760Pro)
c.65G>C (p.Arg22Pro)
c.5915G>C (p.Arg1972Pro)
c.5726G>C (p.Arg1909Pro)
c.4130G>C (p.Arg1377Pro)
n.6266G>C
 gnomAD v4
6g.51934241C>TCA364417841PKHD1c.5990G>A (p.Arg1997Gln)
c.5348G>A (p.Arg1783Gln)
c.5279G>A (p.Arg1760Gln)
c.65G>A (p.Arg22Gln)
c.5915G>A (p.Arg1972Gln)
c.5726G>A (p.Arg1909Gln)
c.4130G>A (p.Arg1377Gln)
n.6266G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.51934242G>ACA364417842PKHD1c.5989C>T (p.Arg1997Trp)
c.5347C>T (p.Arg1783Trp)
c.5278C>T (p.Arg1760Trp)
c.64C>T (p.Arg22Trp)
c.5914C>T (p.Arg1972Trp)
c.5725C>T (p.Arg1909Trp)
c.4129C>T (p.Arg1377Trp)
n.6265C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51934242G>CCA364417843PKHD1c.5989C>G (p.Arg1997Gly)
c.5347C>G (p.Arg1783Gly)
c.5278C>G (p.Arg1760Gly)
c.64C>G (p.Arg22Gly)
c.5914C>G (p.Arg1972Gly)
c.5725C>G (p.Arg1909Gly)
c.4129C>G (p.Arg1377Gly)
n.6265C>G
6g.51934242G=CA1628551061PKHD1c.5989C= (p.Arg1997=)
c.5347C= (p.Arg1783=)
c.5278C= (p.Arg1760=)
c.64C= (p.Arg22=)
c.5914C= (p.Arg1972=)
c.5725C= (p.Arg1909=)
c.4129C= (p.Arg1377=)
n.6265C=
6g.51934242G>TCA3852367PKHD1c.5989C>A (p.Arg1997=)
c.5347C>A (p.Arg1783=)
c.5278C>A (p.Arg1760=)
c.64C>A (p.Arg22=)
c.5914C>A (p.Arg1972=)
c.5725C>A (p.Arg1909=)
c.4129C>A (p.Arg1377=)
n.6265C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51934243G>ACA450416279PKHD1c.5988C>T (p.Leu1996=)
c.5346C>T (p.Leu1782=)
c.5277C>T (p.Leu1759=)
c.63C>T (p.Leu21=)
c.5913C>T (p.Leu1971=)
c.5724C>T (p.Leu1908=)
c.4128C>T (p.Leu1376=)
n.6264C>T
 gnomAD v4
6g.51934243G>CCA138915209PKHD1c.5988C>G (p.Leu1996=)
c.5346C>G (p.Leu1782=)
c.5277C>G (p.Leu1759=)
c.63C>G (p.Leu21=)
c.5913C>G (p.Leu1971=)
c.5724C>G (p.Leu1908=)
c.4128C>G (p.Leu1376=)
n.6264C>G
 dbSNP
6g.51934243G=CA1628551065PKHD1c.5988C= (p.Leu1996=)
c.5346C= (p.Leu1782=)
c.5277C= (p.Leu1759=)
c.63C= (p.Leu21=)
c.5913C= (p.Leu1971=)
c.5724C= (p.Leu1908=)
c.4128C= (p.Leu1376=)
n.6264C=
6g.51934243G>TCA450416280PKHD1c.5988C>A (p.Leu1996=)
c.5346C>A (p.Leu1782=)
c.5277C>A (p.Leu1759=)
c.63C>A (p.Leu21=)
c.5913C>A (p.Leu1971=)
c.5724C>A (p.Leu1908=)
c.4128C>A (p.Leu1376=)
n.6264C>A
6g.51934244A>CCA364417844PKHD1c.5987T>G (p.Leu1996Arg)
c.5345T>G (p.Leu1782Arg)
c.5276T>G (p.Leu1759Arg)
c.62T>G (p.Leu21Arg)
c.5912T>G (p.Leu1971Arg)
c.5723T>G (p.Leu1908Arg)
c.4127T>G (p.Leu1376Arg)
n.6263T>G
6g.51934244A>GCA364417845PKHD1c.5987T>C (p.Leu1996Pro)
c.5345T>C (p.Leu1782Pro)
c.5276T>C (p.Leu1759Pro)
c.62T>C (p.Leu21Pro)
c.5912T>C (p.Leu1971Pro)
c.5723T>C (p.Leu1908Pro)
c.4127T>C (p.Leu1376Pro)
n.6263T>C
6g.51934244A>TCA364417846PKHD1c.5987T>A (p.Leu1996His)
c.5345T>A (p.Leu1782His)
c.5276T>A (p.Leu1759His)
c.62T>A (p.Leu21His)
c.5912T>A (p.Leu1971His)
c.5723T>A (p.Leu1908His)
c.4127T>A (p.Leu1376His)
n.6263T>A
6g.51934245G>ACA364417847PKHD1c.5986C>T (p.Leu1996Phe)
c.5344C>T (p.Leu1782Phe)
c.5275C>T (p.Leu1759Phe)
c.61C>T (p.Leu21Phe)
c.5911C>T (p.Leu1971Phe)
c.5722C>T (p.Leu1908Phe)
c.4126C>T (p.Leu1376Phe)
n.6262C>T
 dbSNP gnomAD v2 gnomAD v4
6g.51934245G>CCA364417849PKHD1c.5986C>G (p.Leu1996Val)
c.5344C>G (p.Leu1782Val)
c.5275C>G (p.Leu1759Val)
c.61C>G (p.Leu21Val)
c.5911C>G (p.Leu1971Val)
c.5722C>G (p.Leu1908Val)
c.4126C>G (p.Leu1376Val)
n.6262C>G
 dbSNP gnomAD v2 gnomAD v4
6g.51934245G=CA1628551070PKHD1c.5986C= (p.Leu1996=)
c.5344C= (p.Leu1782=)
c.5275C= (p.Leu1759=)
c.61C= (p.Leu21=)
c.5911C= (p.Leu1971=)
c.5722C= (p.Leu1908=)
c.4126C= (p.Leu1376=)
n.6262C=
6g.51934245G>TCA364417848PKHD1c.5986C>A (p.Leu1996Ile)
c.5344C>A (p.Leu1782Ile)
c.5275C>A (p.Leu1759Ile)
c.61C>A (p.Leu21Ile)
c.5911C>A (p.Leu1971Ile)
c.5722C>A (p.Leu1908Ile)
c.4126C>A (p.Leu1376Ile)
n.6262C>A
6g.51934246C>ACA364417850PKHD1c.5985G>T (p.Glu1995Asp)
c.5343G>T (p.Glu1781Asp)
c.5274G>T (p.Glu1758Asp)
c.60G>T (p.Glu20Asp)
c.5910G>T (p.Glu1970Asp)
c.5721G>T (p.Glu1907Asp)
c.4125G>T (p.Glu1375Asp)
n.6261G>T
6g.51934246C>GCA364417851PKHD1c.5985G>C (p.Glu1995Asp)
c.5343G>C (p.Glu1781Asp)
c.5274G>C (p.Glu1758Asp)
c.60G>C (p.Glu20Asp)
c.5910G>C (p.Glu1970Asp)
c.5721G>C (p.Glu1907Asp)
c.4125G>C (p.Glu1375Asp)
n.6261G>C
6g.51934246C>TCA450416281PKHD1c.5985G>A (p.Glu1995=)
c.5343G>A (p.Glu1781=)
c.5274G>A (p.Glu1758=)
c.60G>A (p.Glu20=)
c.5910G>A (p.Glu1970=)
c.5721G>A (p.Glu1907=)
c.4125G>A (p.Glu1375=)
n.6261G>A
 ClinVar gnomAD v4
6g.51934247T>ACA364417852PKHD1c.5984A>T (p.Glu1995Val)
c.5342A>T (p.Glu1781Val)
c.5273A>T (p.Glu1758Val)
c.59A>T (p.Glu20Val)
c.5909A>T (p.Glu1970Val)
c.5720A>T (p.Glu1907Val)
c.4124A>T (p.Glu1375Val)
n.6260A>T
6g.51934247T>CCA364417853PKHD1c.5984A>G (p.Glu1995Gly)
c.5342A>G (p.Glu1781Gly)
c.5273A>G (p.Glu1758Gly)
c.59A>G (p.Glu20Gly)
c.5909A>G (p.Glu1970Gly)
c.5720A>G (p.Glu1907Gly)
c.4124A>G (p.Glu1375Gly)
n.6260A>G
 ClinVar dbSNP
6g.51934247T>GCA364417854PKHD1c.5984A>C (p.Glu1995Ala)
c.5342A>C (p.Glu1781Ala)
c.5273A>C (p.Glu1758Ala)
c.59A>C (p.Glu20Ala)
c.5909A>C (p.Glu1970Ala)
c.5720A>C (p.Glu1907Ala)
c.4124A>C (p.Glu1375Ala)
n.6260A>C
6g.51934247T=CA1628551075PKHD1c.5984A= (p.Glu1995=)
c.5342A= (p.Glu1781=)
c.5273A= (p.Glu1758=)
c.59A= (p.Glu20=)
c.5909A= (p.Glu1970=)
c.5720A= (p.Glu1907=)
c.4124A= (p.Glu1375=)
n.6260A=
6g.51934248C>ACA364417855PKHD1c.5983G>T (p.Glu1995Ter)
c.5341G>T (p.Glu1781Ter)
c.5272G>T (p.Glu1758Ter)
c.58G>T (p.Glu20Ter)
c.5908G>T (p.Glu1970Ter)
c.5719G>T (p.Glu1907Ter)
c.4123G>T (p.Glu1375Ter)
n.6259G>T
6g.51934248C=CA1628551081PKHD1c.5983G= (p.Glu1995=)
c.5341G= (p.Glu1781=)
c.5272G= (p.Glu1758=)
c.58G= (p.Glu20=)
c.5908G= (p.Glu1970=)
c.5719G= (p.Glu1907=)
c.4123G= (p.Glu1375=)
n.6259G=
6g.51934248C>GCA364417856PKHD1c.5983G>C (p.Glu1995Gln)
c.5341G>C (p.Glu1781Gln)
c.5272G>C (p.Glu1758Gln)
c.58G>C (p.Glu20Gln)
c.5908G>C (p.Glu1970Gln)
c.5719G>C (p.Glu1907Gln)
c.4123G>C (p.Glu1375Gln)
n.6259G>C
 dbSNP gnomAD v2 gnomAD v4
6g.51934248C>TCA364417857PKHD1c.5983G>A (p.Glu1995Lys)
c.5341G>A (p.Glu1781Lys)
c.5272G>A (p.Glu1758Lys)
c.58G>A (p.Glu20Lys)
c.5908G>A (p.Glu1970Lys)
c.5719G>A (p.Glu1907Lys)
c.4123G>A (p.Glu1375Lys)
n.6259G>A
6g.51934249T>ACA450416282PKHD1c.5982A>T (p.Gly1994=)
c.5340A>T (p.Gly1780=)
c.5271A>T (p.Gly1757=)
c.57A>T (p.Gly19=)
c.5907A>T (p.Gly1969=)
c.5718A>T (p.Gly1906=)
c.4122A>T (p.Gly1374=)
n.6258A>T
6g.51934249T>CCA450416284PKHD1c.5982A>G (p.Gly1994=)
c.5340A>G (p.Gly1780=)
c.5271A>G (p.Gly1757=)
c.57A>G (p.Gly19=)
c.5907A>G (p.Gly1969=)
c.5718A>G (p.Gly1906=)
c.4122A>G (p.Gly1374=)
n.6258A>G
 ClinVar dbSNP
6g.51934249T>GCA450416283PKHD1c.5982A>C (p.Gly1994=)
c.5340A>C (p.Gly1780=)
c.5271A>C (p.Gly1757=)
c.57A>C (p.Gly19=)
c.5907A>C (p.Gly1969=)
c.5718A>C (p.Gly1906=)
c.4122A>C (p.Gly1374=)
n.6258A>C
6g.51934250C>ACA364417858PKHD1c.5981G>T (p.Gly1994Val)
c.5339G>T (p.Gly1780Val)
c.5270G>T (p.Gly1757Val)
c.56G>T (p.Gly19Val)
c.5906G>T (p.Gly1969Val)
c.5717G>T (p.Gly1906Val)
c.4121G>T (p.Gly1374Val)
n.6257G>T
6g.51934250C>GCA364417859PKHD1c.5981G>C (p.Gly1994Ala)
c.5339G>C (p.Gly1780Ala)
c.5270G>C (p.Gly1757Ala)
c.56G>C (p.Gly19Ala)
c.5906G>C (p.Gly1969Ala)
c.5717G>C (p.Gly1906Ala)
c.4121G>C (p.Gly1374Ala)
n.6257G>C
6g.51934250C>TCA364417860PKHD1c.5981G>A (p.Gly1994Glu)
c.5339G>A (p.Gly1780Glu)
c.5270G>A (p.Gly1757Glu)
c.56G>A (p.Gly19Glu)
c.5906G>A (p.Gly1969Glu)
c.5717G>A (p.Gly1906Glu)
c.4121G>A (p.Gly1374Glu)
n.6257G>A
6g.51934253_51934255delCA2695206463PKHD1c.5979_5981del (p.Gly1994del)
c.5337_5339del (p.Gly1780del)
c.5268_5270del (p.Gly1757del)
c.54_56del (p.Gly19del)
c.5904_5906del (p.Gly1969del)
c.5715_5717del (p.Gly1906del)
c.4119_4121del (p.Gly1374del)
n.6255_6257del
6g.51934251C>ACA364417863PKHD1c.5980G>T (p.Gly1994Ter)
c.5338G>T (p.Gly1780Ter)
c.5269G>T (p.Gly1757Ter)
c.55G>T (p.Gly19Ter)
c.5905G>T (p.Gly1969Ter)
c.5716G>T (p.Gly1906Ter)
c.4120G>T (p.Gly1374Ter)
n.6256G>T
6g.51934251C>GCA364417862PKHD1c.5980G>C (p.Gly1994Arg)
c.5338G>C (p.Gly1780Arg)
c.5269G>C (p.Gly1757Arg)
c.55G>C (p.Gly19Arg)
c.5905G>C (p.Gly1969Arg)
c.5716G>C (p.Gly1906Arg)
c.4120G>C (p.Gly1374Arg)
n.6256G>C
6g.51934251C>TCA364417861PKHD1c.5980G>A (p.Gly1994Arg)
c.5338G>A (p.Gly1780Arg)
c.5269G>A (p.Gly1757Arg)
c.55G>A (p.Gly19Arg)
c.5905G>A (p.Gly1969Arg)
c.5716G>A (p.Gly1906Arg)
c.4120G>A (p.Gly1374Arg)
n.6256G>A
6g.51934252A>CCA450416285PKHD1c.5979T>G (p.Gly1993=)
c.5337T>G (p.Gly1779=)
c.5268T>G (p.Gly1756=)
c.54T>G (p.Gly18=)
c.5904T>G (p.Gly1968=)
c.5715T>G (p.Gly1905=)
c.4119T>G (p.Gly1373=)
n.6255T>G
6g.51934252A>GCA450416286PKHD1c.5979T>C (p.Gly1993=)
c.5337T>C (p.Gly1779=)
c.5268T>C (p.Gly1756=)
c.54T>C (p.Gly18=)
c.5904T>C (p.Gly1968=)
c.5715T>C (p.Gly1905=)
c.4119T>C (p.Gly1373=)
n.6255T>C
 ClinVar gnomAD v4
6g.51934252A>TCA450416287PKHD1c.5979T>A (p.Gly1993=)
c.5337T>A (p.Gly1779=)
c.5268T>A (p.Gly1756=)
c.54T>A (p.Gly18=)
c.5904T>A (p.Gly1968=)
c.5715T>A (p.Gly1905=)
c.4119T>A (p.Gly1373=)
n.6255T>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51934253C>ACA364417864PKHD1c.5978G>T (p.Gly1993Val)
c.5336G>T (p.Gly1779Val)
c.5267G>T (p.Gly1756Val)
c.53G>T (p.Gly18Val)
c.5903G>T (p.Gly1968Val)
c.5714G>T (p.Gly1905Val)
c.4118G>T (p.Gly1373Val)
n.6254G>T
 dbSNP gnomAD v2 gnomAD v4
6g.51934253C=CA1628551084PKHD1c.5978G= (p.Gly1993=)
c.5336G= (p.Gly1779=)
c.5267G= (p.Gly1756=)
c.53G= (p.Gly18=)
c.5903G= (p.Gly1968=)
c.5714G= (p.Gly1905=)
c.4118G= (p.Gly1373=)
n.6254G=
6g.51934253C>GCA364417865PKHD1c.5978G>C (p.Gly1993Ala)
c.5336G>C (p.Gly1779Ala)
c.5267G>C (p.Gly1756Ala)
c.53G>C (p.Gly18Ala)
c.5903G>C (p.Gly1968Ala)
c.5714G>C (p.Gly1905Ala)
c.4118G>C (p.Gly1373Ala)
n.6254G>C
6g.51934253C>TCA364417866PKHD1c.5978G>A (p.Gly1993Asp)
c.5336G>A (p.Gly1779Asp)
c.5267G>A (p.Gly1756Asp)
c.53G>A (p.Gly18Asp)
c.5903G>A (p.Gly1968Asp)
c.5714G>A (p.Gly1905Asp)
c.4118G>A (p.Gly1373Asp)
n.6254G>A
 gnomAD v4
6g.51934254C>ACA364417867PKHD1c.5977G>T (p.Gly1993Cys)
c.5335G>T (p.Gly1779Cys)
c.5266G>T (p.Gly1756Cys)
c.52G>T (p.Gly18Cys)
c.5902G>T (p.Gly1968Cys)
c.5713G>T (p.Gly1905Cys)
c.4117G>T (p.Gly1373Cys)
n.6253G>T
 ClinVar
6g.51934254C=CA1628551091PKHD1c.5977G= (p.Gly1993=)
c.5335G= (p.Gly1779=)
c.5266G= (p.Gly1756=)
c.52G= (p.Gly18=)
c.5902G= (p.Gly1968=)
c.5713G= (p.Gly1905=)
c.4117G= (p.Gly1373=)
n.6253G=
6g.51934254C>GCA364417868PKHD1c.5977G>C (p.Gly1993Arg)
c.5335G>C (p.Gly1779Arg)
c.5266G>C (p.Gly1756Arg)
c.52G>C (p.Gly18Arg)
c.5902G>C (p.Gly1968Arg)
c.5713G>C (p.Gly1905Arg)
c.4117G>C (p.Gly1373Arg)
n.6253G>C
6g.51934254C>TCA364417869PKHD1c.5977G>A (p.Gly1993Ser)
c.5335G>A (p.Gly1779Ser)
c.5266G>A (p.Gly1756Ser)
c.52G>A (p.Gly18Ser)
c.5902G>A (p.Gly1968Ser)
c.5713G>A (p.Gly1905Ser)
c.4117G>A (p.Gly1373Ser)
n.6253G>A
 dbSNP gnomAD v2 gnomAD v4
6g.51934255A=CA1628551095PKHD1c.5976T= (p.Asp1992=)
c.5334T= (p.Asp1778=)
c.5265T= (p.Asp1755=)
c.51T= (p.Asp17=)
c.5901T= (p.Asp1967=)
c.5712T= (p.Asp1904=)
c.4116T= (p.Asp1372=)
n.6252T=
6g.51934255A>CCA364417870PKHD1c.5976T>G (p.Asp1992Glu)
c.5334T>G (p.Asp1778Glu)
c.5265T>G (p.Asp1755Glu)
c.51T>G (p.Asp17Glu)
c.5901T>G (p.Asp1967Glu)
c.5712T>G (p.Asp1904Glu)
c.4116T>G (p.Asp1372Glu)
n.6252T>G
6g.51934255A>GCA3852368PKHD1c.5976T>C (p.Asp1992=)
c.5334T>C (p.Asp1778=)
c.5265T>C (p.Asp1755=)
c.51T>C (p.Asp17=)
c.5901T>C (p.Asp1967=)
c.5712T>C (p.Asp1904=)
c.4116T>C (p.Asp1372=)
n.6252T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51934255A>TCA364417871PKHD1c.5976T>A (p.Asp1992Glu)
c.5334T>A (p.Asp1778Glu)
c.5265T>A (p.Asp1755Glu)
c.51T>A (p.Asp17Glu)
c.5901T>A (p.Asp1967Glu)
c.5712T>A (p.Asp1904Glu)
c.4116T>A (p.Asp1372Glu)
n.6252T>A
6g.51934256T>ACA364417872PKHD1c.5975A>T (p.Asp1992Val)
c.5333A>T (p.Asp1778Val)
c.5264A>T (p.Asp1755Val)
c.50A>T (p.Asp17Val)
c.5900A>T (p.Asp1967Val)
c.5711A>T (p.Asp1904Val)
c.4115A>T (p.Asp1372Val)
n.6251A>T
6g.51934256T>CCA364417873PKHD1c.5975A>G (p.Asp1992Gly)
c.5333A>G (p.Asp1778Gly)
c.5264A>G (p.Asp1755Gly)
c.50A>G (p.Asp17Gly)
c.5900A>G (p.Asp1967Gly)
c.5711A>G (p.Asp1904Gly)
c.4115A>G (p.Asp1372Gly)
n.6251A>G
 dbSNP
6g.51934256T>GCA364417874PKHD1c.5975A>C (p.Asp1992Ala)
c.5333A>C (p.Asp1778Ala)
c.5264A>C (p.Asp1755Ala)
c.50A>C (p.Asp17Ala)
c.5900A>C (p.Asp1967Ala)
c.5711A>C (p.Asp1904Ala)
c.4115A>C (p.Asp1372Ala)
n.6251A>C
6g.51934256T=CA1628551097PKHD1c.5975A= (p.Asp1992=)
c.5333A= (p.Asp1778=)
c.5264A= (p.Asp1755=)
c.50A= (p.Asp17=)
c.5900A= (p.Asp1967=)
c.5711A= (p.Asp1904=)
c.4115A= (p.Asp1372=)
n.6251A=
6g.51934257C>ACA364417877PKHD1c.5974G>T (p.Asp1992Tyr)
c.5332G>T (p.Asp1778Tyr)
c.5263G>T (p.Asp1755Tyr)
c.49G>T (p.Asp17Tyr)
c.5899G>T (p.Asp1967Tyr)
c.5710G>T (p.Asp1904Tyr)
c.4114G>T (p.Asp1372Tyr)
n.6250G>T
6g.51934257C>GCA364417876PKHD1c.5974G>C (p.Asp1992His)
c.5332G>C (p.Asp1778His)
c.5263G>C (p.Asp1755His)
c.49G>C (p.Asp17His)
c.5899G>C (p.Asp1967His)
c.5710G>C (p.Asp1904His)
c.4114G>C (p.Asp1372His)
n.6250G>C
6g.51934257C>TCA364417875PKHD1c.5974G>A (p.Asp1992Asn)
c.5332G>A (p.Asp1778Asn)
c.5263G>A (p.Asp1755Asn)
c.49G>A (p.Asp17Asn)
c.5899G>A (p.Asp1967Asn)
c.5710G>A (p.Asp1904Asn)
c.4114G>A (p.Asp1372Asn)
n.6250G>A
6g.51934258A>CCA450416288PKHD1c.5973T>G (p.Ser1991=)
c.5331T>G (p.Ser1777=)
c.5262T>G (p.Ser1754=)
c.48T>G (p.Ser16=)
c.5898T>G (p.Ser1966=)
c.5709T>G (p.Ser1903=)
c.4113T>G (p.Ser1371=)
n.6249T>G
6g.51934258A>GCA450416289PKHD1c.5973T>C (p.Ser1991=)
c.5331T>C (p.Ser1777=)
c.5262T>C (p.Ser1754=)
c.48T>C (p.Ser16=)
c.5898T>C (p.Ser1966=)
c.5709T>C (p.Ser1903=)
c.4113T>C (p.Ser1371=)
n.6249T>C
6g.51934258A>TCA450416290PKHD1c.5973T>A (p.Ser1991=)
c.5331T>A (p.Ser1777=)
c.5262T>A (p.Ser1754=)
c.48T>A (p.Ser16=)
c.5898T>A (p.Ser1966=)
c.5709T>A (p.Ser1903=)
c.4113T>A (p.Ser1371=)
n.6249T>A
6g.51934259G>ACA364417880PKHD1c.5972C>T (p.Ser1991Phe)
c.5330C>T (p.Ser1777Phe)
c.5261C>T (p.Ser1754Phe)
c.47C>T (p.Ser16Phe)
c.5897C>T (p.Ser1966Phe)
c.5708C>T (p.Ser1903Phe)
c.4112C>T (p.Ser1371Phe)
n.6248C>T
6g.51934259G>CCA364417878PKHD1c.5972C>G (p.Ser1991Cys)
c.5330C>G (p.Ser1777Cys)
c.5261C>G (p.Ser1754Cys)
c.47C>G (p.Ser16Cys)
c.5897C>G (p.Ser1966Cys)
c.5708C>G (p.Ser1903Cys)
c.4112C>G (p.Ser1371Cys)
n.6248C>G
6g.51934259G>TCA364417879PKHD1c.5972C>A (p.Ser1991Tyr)
c.5330C>A (p.Ser1777Tyr)
c.5261C>A (p.Ser1754Tyr)
c.47C>A (p.Ser16Tyr)
c.5897C>A (p.Ser1966Tyr)
c.5708C>A (p.Ser1903Tyr)
c.4112C>A (p.Ser1371Tyr)
n.6248C>A
6g.51934260A>CCA364417881PKHD1c.5971T>G (p.Ser1991Ala)
c.5329T>G (p.Ser1777Ala)
c.5260T>G (p.Ser1754Ala)
c.46T>G (p.Ser16Ala)
c.5896T>G (p.Ser1966Ala)
c.5707T>G (p.Ser1903Ala)
c.4111T>G (p.Ser1371Ala)
n.6247T>G
6g.51934260A>GCA364417882PKHD1c.5971T>C (p.Ser1991Pro)
c.5329T>C (p.Ser1777Pro)
c.5260T>C (p.Ser1754Pro)
c.46T>C (p.Ser16Pro)
c.5896T>C (p.Ser1966Pro)
c.5707T>C (p.Ser1903Pro)
c.4111T>C (p.Ser1371Pro)
n.6247T>C
6g.51934260A>TCA364417883PKHD1c.5971T>A (p.Ser1991Thr)
c.5329T>A (p.Ser1777Thr)
c.5260T>A (p.Ser1754Thr)
c.46T>A (p.Ser16Thr)
c.5896T>A (p.Ser1966Thr)
c.5707T>A (p.Ser1903Thr)
c.4111T>A (p.Ser1371Thr)
n.6247T>A
6g.51934261A>CCA450416291PKHD1c.5970T>G (p.Val1990=)
c.5328T>G (p.Val1776=)
c.5259T>G (p.Val1753=)
c.45T>G (p.Val15=)
c.5895T>G (p.Val1965=)
c.5706T>G (p.Val1902=)
c.4110T>G (p.Val1370=)
n.6246T>G
6g.51934261A>GCA450416292PKHD1c.5970T>C (p.Val1990=)
c.5328T>C (p.Val1776=)
c.5259T>C (p.Val1753=)
c.45T>C (p.Val15=)
c.5895T>C (p.Val1965=)
c.5706T>C (p.Val1902=)
c.4110T>C (p.Val1370=)
n.6246T>C
 ClinVar gnomAD v4
6g.51934261A>TCA450416293PKHD1c.5970T>A (p.Val1990=)
c.5328T>A (p.Val1776=)
c.5259T>A (p.Val1753=)
c.45T>A (p.Val15=)
c.5895T>A (p.Val1965=)
c.5706T>A (p.Val1902=)
c.4110T>A (p.Val1370=)
n.6246T>A
6g.51934262A>CCA364417886PKHD1c.5969T>G (p.Val1990Gly)
c.5327T>G (p.Val1776Gly)
c.5258T>G (p.Val1753Gly)
c.44T>G (p.Val15Gly)
c.5894T>G (p.Val1965Gly)
c.5705T>G (p.Val1902Gly)
c.4109T>G (p.Val1370Gly)
n.6245T>G
6g.51934262A>GCA364417885PKHD1c.5969T>C (p.Val1990Ala)
c.5327T>C (p.Val1776Ala)
c.5258T>C (p.Val1753Ala)
c.44T>C (p.Val15Ala)
c.5894T>C (p.Val1965Ala)
c.5705T>C (p.Val1902Ala)
c.4109T>C (p.Val1370Ala)
n.6245T>C
 gnomAD v4
6g.51934262A>TCA364417884PKHD1c.5969T>A (p.Val1990Asp)
c.5327T>A (p.Val1776Asp)
c.5258T>A (p.Val1753Asp)
c.44T>A (p.Val15Asp)
c.5894T>A (p.Val1965Asp)
c.5705T>A (p.Val1902Asp)
c.4109T>A (p.Val1370Asp)
n.6245T>A
6g.51934263C>ACA364417887PKHD1c.5968G>T (p.Val1990Phe)
c.5326G>T (p.Val1776Phe)
c.5257G>T (p.Val1753Phe)
c.43G>T (p.Val15Phe)
c.5893G>T (p.Val1965Phe)
c.5704G>T (p.Val1902Phe)
c.4108G>T (p.Val1370Phe)
n.6244G>T
6g.51934263C>GCA364417888PKHD1c.5968G>C (p.Val1990Leu)
c.5326G>C (p.Val1776Leu)
c.5257G>C (p.Val1753Leu)
c.43G>C (p.Val15Leu)
c.5893G>C (p.Val1965Leu)
c.5704G>C (p.Val1902Leu)
c.4108G>C (p.Val1370Leu)
n.6244G>C
 gnomAD v4
6g.51934263C>TCA364417889PKHD1c.5968G>A (p.Val1990Ile)
c.5326G>A (p.Val1776Ile)
c.5257G>A (p.Val1753Ile)
c.43G>A (p.Val15Ile)
c.5893G>A (p.Val1965Ile)
c.5704G>A (p.Val1902Ile)
c.4108G>A (p.Val1370Ile)
n.6244G>A
6g.51934264A>CCA450416296PKHD1c.5967T>G (p.Leu1989=)
c.5325T>G (p.Leu1775=)
c.5256T>G (p.Leu1752=)
c.42T>G (p.Leu14=)
c.5892T>G (p.Leu1964=)
c.5703T>G (p.Leu1901=)
c.4107T>G (p.Leu1369=)
n.6243T>G
6g.51934264A>GCA450416294PKHD1c.5967T>C (p.Leu1989=)
c.5325T>C (p.Leu1775=)
c.5256T>C (p.Leu1752=)
c.42T>C (p.Leu14=)
c.5892T>C (p.Leu1964=)
c.5703T>C (p.Leu1901=)
c.4107T>C (p.Leu1369=)
n.6243T>C
 ClinVar dbSNP
6g.51934264A>TCA450416295PKHD1c.5967T>A (p.Leu1989=)
c.5325T>A (p.Leu1775=)
c.5256T>A (p.Leu1752=)
c.42T>A (p.Leu14=)
c.5892T>A (p.Leu1964=)
c.5703T>A (p.Leu1901=)
c.4107T>A (p.Leu1369=)
n.6243T>A
6g.51934265A=CA1628551101PKHD1c.5966T= (p.Leu1989=)
c.5324T= (p.Leu1775=)
c.5255T= (p.Leu1752=)
c.41T= (p.Leu14=)
c.5891T= (p.Leu1964=)
c.5702T= (p.Leu1901=)
c.4106T= (p.Leu1369=)
n.6242T=
6g.51934265A>CCA364417890PKHD1c.5966T>G (p.Leu1989Arg)
c.5324T>G (p.Leu1775Arg)
c.5255T>G (p.Leu1752Arg)
c.41T>G (p.Leu14Arg)
c.5891T>G (p.Leu1964Arg)
c.5702T>G (p.Leu1901Arg)
c.4106T>G (p.Leu1369Arg)
n.6242T>G
6g.51934265A>GCA364417891PKHD1c.5966T>C (p.Leu1989Pro)
c.5324T>C (p.Leu1775Pro)
c.5255T>C (p.Leu1752Pro)
c.41T>C (p.Leu14Pro)
c.5891T>C (p.Leu1964Pro)
c.5702T>C (p.Leu1901Pro)
c.4106T>C (p.Leu1369Pro)
n.6242T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51934265A>TCA364417892PKHD1c.5966T>A (p.Leu1989His)
c.5324T>A (p.Leu1775His)
c.5255T>A (p.Leu1752His)
c.41T>A (p.Leu14His)
c.5891T>A (p.Leu1964His)
c.5702T>A (p.Leu1901His)
c.4106T>A (p.Leu1369His)
n.6242T>A
6g.51934266G>ACA364417895PKHD1c.5965C>T (p.Leu1989Phe)
c.5323C>T (p.Leu1775Phe)
c.5254C>T (p.Leu1752Phe)
c.40C>T (p.Leu14Phe)
c.5890C>T (p.Leu1964Phe)
c.5701C>T (p.Leu1901Phe)
c.4105C>T (p.Leu1369Phe)
n.6241C>T
 COSMIC COSMIC
6g.51934266G>CCA364417893PKHD1c.5965C>G (p.Leu1989Val)
c.5323C>G (p.Leu1775Val)
c.5254C>G (p.Leu1752Val)
c.40C>G (p.Leu14Val)
c.5890C>G (p.Leu1964Val)
c.5701C>G (p.Leu1901Val)
c.4105C>G (p.Leu1369Val)
n.6241C>G
 dbSNP
6g.51934266G=CA1628551103PKHD1c.5965C= (p.Leu1989=)
c.5323C= (p.Leu1775=)
c.5254C= (p.Leu1752=)
c.40C= (p.Leu14=)
c.5890C= (p.Leu1964=)
c.5701C= (p.Leu1901=)
c.4105C= (p.Leu1369=)
n.6241C=
6g.51934266G>TCA364417894PKHD1c.5965C>A (p.Leu1989Ile)
c.5323C>A (p.Leu1775Ile)
c.5254C>A (p.Leu1752Ile)
c.40C>A (p.Leu14Ile)
c.5890C>A (p.Leu1964Ile)
c.5701C>A (p.Leu1901Ile)
c.4105C>A (p.Leu1369Ile)
n.6241C>A
6g.51934267dupCA2580075448PKHD1c.5965dup (p.Leu1989ProfsTer4)
c.5323dup (p.Leu1775ProfsTer4)
c.5254dup (p.Leu1752ProfsTer4)
c.40dup (p.Leu14ProfsTer4)
c.5890dup (p.Leu1964ProfsTer4)
c.5701dup (p.Leu1901ProfsTer4)
c.4105dup (p.Leu1369ProfsTer4)
n.6241dup
 ClinVar
6g.51934267G>ACA450416297PKHD1c.5964C>T (p.Ile1988=)
c.5322C>T (p.Ile1774=)
c.5253C>T (p.Ile1751=)
c.39C>T (p.Ile13=)
c.5889C>T (p.Ile1963=)
c.5700C>T (p.Ile1900=)
c.4104C>T (p.Ile1368=)
n.6240C>T
6g.51934267G>CCA364417896PKHD1c.5964C>G (p.Ile1988Met)
c.5322C>G (p.Ile1774Met)
c.5253C>G (p.Ile1751Met)
c.39C>G (p.Ile13Met)
c.5889C>G (p.Ile1963Met)
c.5700C>G (p.Ile1900Met)
c.4104C>G (p.Ile1368Met)
n.6240C>G
6g.51934267G>TCA450416298PKHD1c.5964C>A (p.Ile1988=)
c.5322C>A (p.Ile1774=)
c.5253C>A (p.Ile1751=)
c.39C>A (p.Ile13=)
c.5889C>A (p.Ile1963=)
c.5700C>A (p.Ile1900=)
c.4104C>A (p.Ile1368=)
n.6240C>A
6g.51934268A=CA1628551109PKHD1c.5963T= (p.Ile1988=)
c.5321T= (p.Ile1774=)
c.5252T= (p.Ile1751=)
c.38T= (p.Ile13=)
c.5888T= (p.Ile1963=)
c.5699T= (p.Ile1900=)
c.4103T= (p.Ile1368=)
n.6239T=
6g.51934268A>CCA364417897PKHD1c.5963T>G (p.Ile1988Ser)
c.5321T>G (p.Ile1774Ser)
c.5252T>G (p.Ile1751Ser)
c.38T>G (p.Ile13Ser)
c.5888T>G (p.Ile1963Ser)
c.5699T>G (p.Ile1900Ser)
c.4103T>G (p.Ile1368Ser)
n.6239T>G
6g.51934268A>GCA3852369PKHD1c.5963T>C (p.Ile1988Thr)
c.5321T>C (p.Ile1774Thr)
c.5252T>C (p.Ile1751Thr)
c.38T>C (p.Ile13Thr)
c.5888T>C (p.Ile1963Thr)
c.5699T>C (p.Ile1900Thr)
c.4103T>C (p.Ile1368Thr)
n.6239T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51934268A>TCA364417898PKHD1c.5963T>A (p.Ile1988Asn)
c.5321T>A (p.Ile1774Asn)
c.5252T>A (p.Ile1751Asn)
c.38T>A (p.Ile13Asn)
c.5888T>A (p.Ile1963Asn)
c.5699T>A (p.Ile1900Asn)
c.4103T>A (p.Ile1368Asn)
n.6239T>A
6g.51934269T>ACA364417899PKHD1c.5962A>T (p.Ile1988Phe)
c.5320A>T (p.Ile1774Phe)
c.5251A>T (p.Ile1751Phe)
c.37A>T (p.Ile13Phe)
c.5887A>T (p.Ile1963Phe)
c.5698A>T (p.Ile1900Phe)
c.4102A>T (p.Ile1368Phe)
n.6238A>T
6g.51934269T>CCA138915210PKHD1c.5962A>G (p.Ile1988Val)
c.5320A>G (p.Ile1774Val)
c.5251A>G (p.Ile1751Val)
c.37A>G (p.Ile13Val)
c.5887A>G (p.Ile1963Val)
c.5698A>G (p.Ile1900Val)
c.4102A>G (p.Ile1368Val)
n.6238A>G
 dbSNP gnomAD v2 gnomAD v4
6g.51934269T>GCA364417900PKHD1c.5962A>C (p.Ile1988Leu)
c.5320A>C (p.Ile1774Leu)
c.5251A>C (p.Ile1751Leu)
c.37A>C (p.Ile13Leu)
c.5887A>C (p.Ile1963Leu)
c.5698A>C (p.Ile1900Leu)
c.4102A>C (p.Ile1368Leu)
n.6238A>C
6g.51934269T=CA1628551114PKHD1c.5962A= (p.Ile1988=)
c.5320A= (p.Ile1774=)
c.5251A= (p.Ile1751=)
c.37A= (p.Ile13=)
c.5887A= (p.Ile1963=)
c.5698A= (p.Ile1900=)
c.4102A= (p.Ile1368=)
n.6238A=
6g.51934270G>ACA450416300PKHD1c.5961C>T (p.Ala1987=)
c.5319C>T (p.Ala1773=)
c.5250C>T (p.Ala1750=)
c.36C>T (p.Ala12=)
c.5886C>T (p.Ala1962=)
c.5697C>T (p.Ala1899=)
c.4101C>T (p.Ala1367=)
n.6237C>T
 ClinVar gnomAD v4
6g.51934270G>CCA450416299PKHD1c.5961C>G (p.Ala1987=)
c.5319C>G (p.Ala1773=)
c.5250C>G (p.Ala1750=)
c.36C>G (p.Ala12=)
c.5886C>G (p.Ala1962=)
c.5697C>G (p.Ala1899=)
c.4101C>G (p.Ala1367=)
n.6237C>G
6g.51934270G>TCA450416301PKHD1c.5961C>A (p.Ala1987=)
c.5319C>A (p.Ala1773=)
c.5250C>A (p.Ala1750=)
c.36C>A (p.Ala12=)
c.5886C>A (p.Ala1962=)
c.5697C>A (p.Ala1899=)
c.4101C>A (p.Ala1367=)
n.6237C>A
6g.51934271G>ACA364417901PKHD1c.5960C>T (p.Ala1987Val)
c.5318C>T (p.Ala1773Val)
c.5249C>T (p.Ala1750Val)
c.35C>T (p.Ala12Val)
c.5885C>T (p.Ala1962Val)
c.5696C>T (p.Ala1899Val)
c.4100C>T (p.Ala1367Val)
n.6236C>T
 dbSNP
6g.51934271G>CCA364417902PKHD1c.5960C>G (p.Ala1987Gly)
c.5318C>G (p.Ala1773Gly)
c.5249C>G (p.Ala1750Gly)
c.35C>G (p.Ala12Gly)
c.5885C>G (p.Ala1962Gly)
c.5696C>G (p.Ala1899Gly)
c.4100C>G (p.Ala1367Gly)
n.6236C>G
 gnomAD v4
6g.51934271G>TCA364417903PKHD1c.5960C>A (p.Ala1987Asp)
c.5318C>A (p.Ala1773Asp)
c.5249C>A (p.Ala1750Asp)
c.35C>A (p.Ala12Asp)
c.5885C>A (p.Ala1962Asp)
c.5696C>A (p.Ala1899Asp)
c.4100C>A (p.Ala1367Asp)
n.6236C>A
6g.51934272C>ACA364417904PKHD1c.5959G>T (p.Ala1987Ser)
c.5317G>T (p.Ala1773Ser)
c.5248G>T (p.Ala1750Ser)
c.34G>T (p.Ala12Ser)
c.5884G>T (p.Ala1962Ser)
c.5695G>T (p.Ala1899Ser)
c.4099G>T (p.Ala1367Ser)
n.6235G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51934272C=CA1628551122PKHD1c.5959G= (p.Ala1987=)
c.5317G= (p.Ala1773=)
c.5248G= (p.Ala1750=)
c.34G= (p.Ala12=)
c.5884G= (p.Ala1962=)
c.5695G= (p.Ala1899=)
c.4099G= (p.Ala1367=)
n.6235G=
6g.51934272C>GCA364417905PKHD1c.5959G>C (p.Ala1987Pro)
c.5317G>C (p.Ala1773Pro)
c.5248G>C (p.Ala1750Pro)
c.34G>C (p.Ala12Pro)
c.5884G>C (p.Ala1962Pro)
c.5695G>C (p.Ala1899Pro)
c.4099G>C (p.Ala1367Pro)
n.6235G>C
6g.51934272C>TCA3852370PKHD1c.5959G>A (p.Ala1987Thr)
c.5317G>A (p.Ala1773Thr)
c.5248G>A (p.Ala1750Thr)
c.34G>A (p.Ala12Thr)
c.5884G>A (p.Ala1962Thr)
c.5695G>A (p.Ala1899Thr)
c.4099G>A (p.Ala1367Thr)
n.6235G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51934273G>ACA3852371PKHD1c.5958C>T (p.His1986=)
c.5316C>T (p.His1772=)
c.5247C>T (p.His1749=)
c.33C>T (p.His11=)
c.5883C>T (p.His1961=)
c.5694C>T (p.His1898=)
c.4098C>T (p.His1366=)
n.6234C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51934273G>CCA364417906PKHD1c.5958C>G (p.His1986Gln)
c.5316C>G (p.His1772Gln)
c.5247C>G (p.His1749Gln)
c.33C>G (p.His11Gln)
c.5883C>G (p.His1961Gln)
c.5694C>G (p.His1898Gln)
c.4098C>G (p.His1366Gln)
n.6234C>G
6g.51934273G=CA1628551129PKHD1c.5958C= (p.His1986=)
c.5316C= (p.His1772=)
c.5247C= (p.His1749=)
c.33C= (p.His11=)
c.5883C= (p.His1961=)
c.5694C= (p.His1898=)
c.4098C= (p.His1366=)
n.6234C=
6g.51934273G>TCA3852372PKHD1c.5958C>A (p.His1986Gln)
c.5316C>A (p.His1772Gln)
c.5247C>A (p.His1749Gln)
c.33C>A (p.His11Gln)
c.5883C>A (p.His1961Gln)
c.5694C>A (p.His1898Gln)
c.4098C>A (p.His1366Gln)
n.6234C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51934274T>ACA364417907PKHD1c.5957A>T (p.His1986Leu)
c.5315A>T (p.His1772Leu)
c.5246A>T (p.His1749Leu)
c.32A>T (p.His11Leu)
c.5882A>T (p.His1961Leu)
c.5693A>T (p.His1898Leu)
c.4097A>T (p.His1366Leu)
n.6233A>T
 gnomAD v4
6g.51934274T>CCA364417908PKHD1c.5957A>G (p.His1986Arg)
c.5315A>G (p.His1772Arg)
c.5246A>G (p.His1749Arg)
c.32A>G (p.His11Arg)
c.5882A>G (p.His1961Arg)
c.5693A>G (p.His1898Arg)
c.4097A>G (p.His1366Arg)
n.6233A>G
6g.51934274T>GCA364417909PKHD1c.5957A>C (p.His1986Pro)
c.5315A>C (p.His1772Pro)
c.5246A>C (p.His1749Pro)
c.32A>C (p.His11Pro)
c.5882A>C (p.His1961Pro)
c.5693A>C (p.His1898Pro)
c.4097A>C (p.His1366Pro)
n.6233A>C
6g.51934275G>ACA3852373PKHD1c.5956C>T (p.His1986Tyr)
c.5314C>T (p.His1772Tyr)
c.5245C>T (p.His1749Tyr)
c.31C>T (p.His11Tyr)
c.5881C>T (p.His1961Tyr)
c.5692C>T (p.His1898Tyr)
c.4096C>T (p.His1366Tyr)
n.6232C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51934275G>CCA364417910PKHD1c.5956C>G (p.His1986Asp)
c.5314C>G (p.His1772Asp)
c.5245C>G (p.His1749Asp)
c.31C>G (p.His11Asp)
c.5881C>G (p.His1961Asp)
c.5692C>G (p.His1898Asp)
c.4096C>G (p.His1366Asp)
n.6232C>G
6g.51934275G=CA1628551137PKHD1c.5956C= (p.His1986=)
c.5314C= (p.His1772=)
c.5245C= (p.His1749=)
c.31C= (p.His11=)
c.5881C= (p.His1961=)
c.5692C= (p.His1898=)
c.4096C= (p.His1366=)
n.6232C=
6g.51934275G>TCA364417911PKHD1c.5956C>A (p.His1986Asn)
c.5314C>A (p.His1772Asn)
c.5245C>A (p.His1749Asn)
c.31C>A (p.His11Asn)
c.5881C>A (p.His1961Asn)
c.5692C>A (p.His1898Asn)
c.4096C>A (p.His1366Asn)
n.6232C>A
6g.51934276T>ACA450416302PKHD1c.5955A>T (p.Ala1985=)
c.5313A>T (p.Ala1771=)
c.5244A>T (p.Ala1748=)
c.30A>T (p.Ala10=)
c.5880A>T (p.Ala1960=)
c.5691A>T (p.Ala1897=)
c.4095A>T (p.Ala1365=)
n.6231A>T
6g.51934276T>CCA450416303PKHD1c.5955A>G (p.Ala1985=)
c.5313A>G (p.Ala1771=)
c.5244A>G (p.Ala1748=)
c.30A>G (p.Ala10=)
c.5880A>G (p.Ala1960=)
c.5691A>G (p.Ala1897=)
c.4095A>G (p.Ala1365=)
n.6231A>G
6g.51934276T>GCA450416304PKHD1c.5955A>C (p.Ala1985=)
c.5313A>C (p.Ala1771=)
c.5244A>C (p.Ala1748=)
c.30A>C (p.Ala10=)
c.5880A>C (p.Ala1960=)
c.5691A>C (p.Ala1897=)
c.4095A>C (p.Ala1365=)
n.6231A>C
6g.51934277G>ACA364417912PKHD1c.5954C>T (p.Ala1985Val)
c.5312C>T (p.Ala1771Val)
c.5243C>T (p.Ala1748Val)
c.29C>T (p.Ala10Val)
c.5879C>T (p.Ala1960Val)
c.5690C>T (p.Ala1897Val)
c.4094C>T (p.Ala1365Val)
n.6230C>T
6g.51934277G>CCA364417913PKHD1c.5954C>G (p.Ala1985Gly)
c.5312C>G (p.Ala1771Gly)
c.5243C>G (p.Ala1748Gly)
c.29C>G (p.Ala10Gly)
c.5879C>G (p.Ala1960Gly)
c.5690C>G (p.Ala1897Gly)
c.4094C>G (p.Ala1365Gly)
n.6230C>G
6g.51934277G>TCA364417914PKHD1c.5954C>A (p.Ala1985Glu)
c.5312C>A (p.Ala1771Glu)
c.5243C>A (p.Ala1748Glu)
c.29C>A (p.Ala10Glu)
c.5879C>A (p.Ala1960Glu)
c.5690C>A (p.Ala1897Glu)
c.4094C>A (p.Ala1365Glu)
n.6230C>A
6g.51934277_51934278delinsGCCA1628551140PKHD1c.5953_5954delinsGC (p.Ala1985=)
c.5311_5312delinsGC (p.Ala1771=)
c.5242_5243delinsGC (p.Ala1748=)
c.28_29delinsGC (p.Ala10=)
c.5878_5879delinsGC (p.Ala1960=)
c.5689_5690delinsGC (p.Ala1897=)
c.4093_4094delinsGC (p.Ala1365=)
n.6229_6230delinsGC
6g.51934278C>ACA364417915PKHD1c.5953G>T (p.Ala1985Ser)
c.5311G>T (p.Ala1771Ser)
c.5242G>T (p.Ala1748Ser)
c.28G>T (p.Ala10Ser)
c.5878G>T (p.Ala1960Ser)
c.5689G>T (p.Ala1897Ser)
c.4093G>T (p.Ala1365Ser)
n.6229G>T
6g.51934278C>GCA364417916PKHD1c.5953G>C (p.Ala1985Pro)
c.5311G>C (p.Ala1771Pro)
c.5242G>C (p.Ala1748Pro)
c.28G>C (p.Ala10Pro)
c.5878G>C (p.Ala1960Pro)
c.5689G>C (p.Ala1897Pro)
c.4093G>C (p.Ala1365Pro)
n.6229G>C
6g.51934278C>TCA364417917PKHD1c.5953G>A (p.Ala1985Thr)
c.5311G>A (p.Ala1771Thr)
c.5242G>A (p.Ala1748Thr)
c.28G>A (p.Ala10Thr)
c.5878G>A (p.Ala1960Thr)
c.5689G>A (p.Ala1897Thr)
c.4093G>A (p.Ala1365Thr)
n.6229G>A
 ClinVar dbSNP gnomAD v4
6g.51934280delCA891842762PKHD1c.5953del (p.Ala1985HisfsTer?)
c.5311del (p.Ala1771HisfsTer?)
c.5242del (p.Ala1748HisfsTer?)
c.28del (p.Ala10HisfsTer?)
c.5878del (p.Ala1960HisfsTer?)
c.5689del (p.Ala1897HisfsTer?)
c.4093del (p.Ala1365HisfsTer?)
n.6229del
 ClinVar dbSNP
6g.51934279C>ACA364417919PKHD1c.5952G>T (p.Arg1984Ser)
c.5310G>T (p.Arg1770Ser)
c.5241G>T (p.Arg1747Ser)
c.27G>T (p.Arg9Ser)
c.5877G>T (p.Arg1959Ser)
c.5688G>T (p.Arg1896Ser)
c.4092G>T (p.Arg1364Ser)
n.6228G>T
6g.51934279C>GCA364417918PKHD1c.5952G>C (p.Arg1984Ser)
c.5310G>C (p.Arg1770Ser)
c.5241G>C (p.Arg1747Ser)
c.27G>C (p.Arg9Ser)
c.5877G>C (p.Arg1959Ser)
c.5688G>C (p.Arg1896Ser)
c.4092G>C (p.Arg1364Ser)
n.6228G>C
6g.51934279C>TCA450416305PKHD1c.5952G>A (p.Arg1984=)
c.5310G>A (p.Arg1770=)
c.5241G>A (p.Arg1747=)
c.27G>A (p.Arg9=)
c.5877G>A (p.Arg1959=)
c.5688G>A (p.Arg1896=)
c.4092G>A (p.Arg1364=)
n.6228G>A
6g.51934280C>ACA364417920PKHD1c.5951G>T (p.Arg1984Met)
c.5309G>T (p.Arg1770Met)
c.5240G>T (p.Arg1747Met)
c.26G>T (p.Arg9Met)
c.5876G>T (p.Arg1959Met)
c.5687G>T (p.Arg1896Met)
c.4091G>T (p.Arg1364Met)
n.6227G>T
 gnomAD v4
6g.51934280C>GCA364417921PKHD1c.5951G>C (p.Arg1984Thr)
c.5309G>C (p.Arg1770Thr)
c.5240G>C (p.Arg1747Thr)
c.26G>C (p.Arg9Thr)
c.5876G>C (p.Arg1959Thr)
c.5687G>C (p.Arg1896Thr)
c.4091G>C (p.Arg1364Thr)
n.6227G>C
6g.51934280C>TCA364417922PKHD1c.5951G>A (p.Arg1984Lys)
c.5309G>A (p.Arg1770Lys)
c.5240G>A (p.Arg1747Lys)
c.26G>A (p.Arg9Lys)
c.5876G>A (p.Arg1959Lys)
c.5687G>A (p.Arg1896Lys)
c.4091G>A (p.Arg1364Lys)
n.6227G>A
6g.51934281T>ACA364417923PKHD1c.5950A>T (p.Arg1984Trp)
c.5308A>T (p.Arg1770Trp)
c.5239A>T (p.Arg1747Trp)
c.25A>T (p.Arg9Trp)
c.5875A>T (p.Arg1959Trp)
c.5686A>T (p.Arg1896Trp)
c.4090A>T (p.Arg1364Trp)
n.6226A>T
6g.51934281T>CCA364417924PKHD1c.5950A>G (p.Arg1984Gly)
c.5308A>G (p.Arg1770Gly)
c.5239A>G (p.Arg1747Gly)
c.25A>G (p.Arg9Gly)
c.5875A>G (p.Arg1959Gly)
c.5686A>G (p.Arg1896Gly)
c.4090A>G (p.Arg1364Gly)
n.6226A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51934281T>GCA450416306PKHD1c.5950A>C (p.Arg1984=)
c.5308A>C (p.Arg1770=)
c.5239A>C (p.Arg1747=)
c.25A>C (p.Arg9=)
c.5875A>C (p.Arg1959=)
c.5686A>C (p.Arg1896=)
c.4090A>C (p.Arg1364=)
n.6226A>C
6g.51934281T=CA1628551150PKHD1c.5950A= (p.Arg1984=)
c.5308A= (p.Arg1770=)
c.5239A= (p.Arg1747=)
c.25A= (p.Arg9=)
c.5875A= (p.Arg1959=)
c.5686A= (p.Arg1896=)
c.4090A= (p.Arg1364=)
n.6226A=
6g.51934282G>ACA450416307PKHD1c.5949C>T (p.Leu1983=)
c.5307C>T (p.Leu1769=)
c.5238C>T (p.Leu1746=)
c.24C>T (p.Leu8=)
c.5874C>T (p.Leu1958=)
c.5685C>T (p.Leu1895=)
c.4089C>T (p.Leu1363=)
n.6225C>T
6g.51934282G>CCA450416308PKHD1c.5949C>G (p.Leu1983=)
c.5307C>G (p.Leu1769=)
c.5238C>G (p.Leu1746=)
c.24C>G (p.Leu8=)
c.5874C>G (p.Leu1958=)
c.5685C>G (p.Leu1895=)
c.4089C>G (p.Leu1363=)
n.6225C>G
6g.51934282G>TCA450416309PKHD1c.5949C>A (p.Leu1983=)
c.5307C>A (p.Leu1769=)
c.5238C>A (p.Leu1746=)
c.24C>A (p.Leu8=)
c.5874C>A (p.Leu1958=)
c.5685C>A (p.Leu1895=)
c.4089C>A (p.Leu1363=)
n.6225C>A
6g.51934283A>CCA364417925PKHD1c.5948T>G (p.Leu1983Arg)
c.5306T>G (p.Leu1769Arg)
c.5237T>G (p.Leu1746Arg)
c.23T>G (p.Leu8Arg)
c.5873T>G (p.Leu1958Arg)
c.5684T>G (p.Leu1895Arg)
c.4088T>G (p.Leu1363Arg)
n.6224T>G
6g.51934283A>GCA364417926PKHD1c.5948T>C (p.Leu1983Pro)
c.5306T>C (p.Leu1769Pro)
c.5237T>C (p.Leu1746Pro)
c.23T>C (p.Leu8Pro)
c.5873T>C (p.Leu1958Pro)
c.5684T>C (p.Leu1895Pro)
c.4088T>C (p.Leu1363Pro)
n.6224T>C
6g.51934283A>TCA364417927PKHD1c.5948T>A (p.Leu1983His)
c.5306T>A (p.Leu1769His)
c.5237T>A (p.Leu1746His)
c.23T>A (p.Leu8His)
c.5873T>A (p.Leu1958His)
c.5684T>A (p.Leu1895His)
c.4088T>A (p.Leu1363His)
n.6224T>A
6g.51934284G>ACA364417928PKHD1c.5947C>T (p.Leu1983Phe)
c.5305C>T (p.Leu1769Phe)
c.5236C>T (p.Leu1746Phe)
c.22C>T (p.Leu8Phe)
c.5872C>T (p.Leu1958Phe)
c.5683C>T (p.Leu1895Phe)
c.4087C>T (p.Leu1363Phe)
n.6223C>T
6g.51934284G>CCA364417929PKHD1c.5947C>G (p.Leu1983Val)
c.5305C>G (p.Leu1769Val)
c.5236C>G (p.Leu1746Val)
c.22C>G (p.Leu8Val)
c.5872C>G (p.Leu1958Val)
c.5683C>G (p.Leu1895Val)
c.4087C>G (p.Leu1363Val)
n.6223C>G
6g.51934284G>TCA364417930PKHD1c.5947C>A (p.Leu1983Ile)
c.5305C>A (p.Leu1769Ile)
c.5236C>A (p.Leu1746Ile)
c.22C>A (p.Leu8Ile)
c.5872C>A (p.Leu1958Ile)
c.5683C>A (p.Leu1895Ile)
c.4087C>A (p.Leu1363Ile)
n.6223C>A
6g.51934285C>ACA364417931PKHD1c.5946G>T (p.Glu1982Asp)
c.5304G>T (p.Glu1768Asp)
c.5235G>T (p.Glu1745Asp)
c.21G>T (p.Glu7Asp)
c.5871G>T (p.Glu1957Asp)
c.5682G>T (p.Glu1894Asp)
c.4086G>T (p.Glu1362Asp)
n.6222G>T
6g.51934285C>GCA364417932PKHD1c.5946G>C (p.Glu1982Asp)
c.5304G>C (p.Glu1768Asp)
c.5235G>C (p.Glu1745Asp)
c.21G>C (p.Glu7Asp)
c.5871G>C (p.Glu1957Asp)
c.5682G>C (p.Glu1894Asp)
c.4086G>C (p.Glu1362Asp)
n.6222G>C
6g.51934285C>TCA450416310PKHD1c.5946G>A (p.Glu1982=)
c.5304G>A (p.Glu1768=)
c.5235G>A (p.Glu1745=)
c.21G>A (p.Glu7=)
c.5871G>A (p.Glu1957=)
c.5682G>A (p.Glu1894=)
c.4086G>A (p.Glu1362=)
n.6222G>A
 gnomAD v4
6g.51934286T>ACA364417934PKHD1c.5945A>T (p.Glu1982Val)
c.5303A>T (p.Glu1768Val)
c.5234A>T (p.Glu1745Val)
c.20A>T (p.Glu7Val)
c.5870A>T (p.Glu1957Val)
c.5681A>T (p.Glu1894Val)
c.4085A>T (p.Glu1362Val)
n.6221A>T
6g.51934286T>CCA364417935PKHD1c.5945A>G (p.Glu1982Gly)
c.5303A>G (p.Glu1768Gly)
c.5234A>G (p.Glu1745Gly)
c.20A>G (p.Glu7Gly)
c.5870A>G (p.Glu1957Gly)
c.5681A>G (p.Glu1894Gly)
c.4085A>G (p.Glu1362Gly)
n.6221A>G
6g.51934286T>GCA364417933PKHD1c.5945A>C (p.Glu1982Ala)
c.5303A>C (p.Glu1768Ala)
c.5234A>C (p.Glu1745Ala)
c.20A>C (p.Glu7Ala)
c.5870A>C (p.Glu1957Ala)
c.5681A>C (p.Glu1894Ala)
c.4085A>C (p.Glu1362Ala)
n.6221A>C
6g.51934287C>ACA3852374PKHD1c.5944G>T (p.Glu1982Ter)
c.5302G>T (p.Glu1768Ter)
c.5233G>T (p.Glu1745Ter)
c.19G>T (p.Glu7Ter)
c.5869G>T (p.Glu1957Ter)
c.5680G>T (p.Glu1894Ter)
c.4084G>T (p.Glu1362Ter)
n.6220G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51934287C=CA1628551156PKHD1c.5944G= (p.Glu1982=)
c.5302G= (p.Glu1768=)
c.5233G= (p.Glu1745=)
c.19G= (p.Glu7=)
c.5869G= (p.Glu1957=)
c.5680G= (p.Glu1894=)
c.4084G= (p.Glu1362=)
n.6220G=
6g.51934287C>GCA364417937PKHD1c.5944G>C (p.Glu1982Gln)
c.5302G>C (p.Glu1768Gln)
c.5233G>C (p.Glu1745Gln)
c.19G>C (p.Glu7Gln)
c.5869G>C (p.Glu1957Gln)
c.5680G>C (p.Glu1894Gln)
c.4084G>C (p.Glu1362Gln)
n.6220G>C
6g.51934287C>TCA364417936PKHD1c.5944G>A (p.Glu1982Lys)
c.5302G>A (p.Glu1768Lys)
c.5233G>A (p.Glu1745Lys)
c.19G>A (p.Glu7Lys)
c.5869G>A (p.Glu1957Lys)
c.5680G>A (p.Glu1894Lys)
c.4084G>A (p.Glu1362Lys)
n.6220G>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
6g.51934288G>ACA3852375PKHD1c.5943C>T (p.Ile1981=)
c.5301C>T (p.Ile1767=)
c.5232C>T (p.Ile1744=)
c.18C>T (p.Ile6=)
c.5868C>T (p.Ile1956=)
c.5679C>T (p.Ile1893=)
c.4083C>T (p.Ile1361=)
n.6219C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51934288G>CCA364417938PKHD1c.5943C>G (p.Ile1981Met)
c.5301C>G (p.Ile1767Met)
c.5232C>G (p.Ile1744Met)
c.18C>G (p.Ile6Met)
c.5868C>G (p.Ile1956Met)
c.5679C>G (p.Ile1893Met)
c.4083C>G (p.Ile1361Met)
n.6219C>G
 dbSNP
6g.51934288G=CA1628551164PKHD1c.5943C= (p.Ile1981=)
c.5301C= (p.Ile1767=)
c.5232C= (p.Ile1744=)
c.18C= (p.Ile6=)
c.5868C= (p.Ile1956=)
c.5679C= (p.Ile1893=)
c.4083C= (p.Ile1361=)
n.6219C=
6g.51934288G>TCA450416311PKHD1c.5943C>A (p.Ile1981=)
c.5301C>A (p.Ile1767=)
c.5232C>A (p.Ile1744=)
c.18C>A (p.Ile6=)
c.5868C>A (p.Ile1956=)
c.5679C>A (p.Ile1893=)
c.4083C>A (p.Ile1361=)
n.6219C>A
 dbSNP gnomAD v4
6g.51934288_51934368delCA1088987237PKHD1c.5909-46_5943del
c.5267-46_5301del
c.5198-46_5232del
c.-17-46_18del
c.5834-46_5868del
c.5645-46_5679del
c.4049-46_4083del
n.6185-46_6219del
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51934289A=CA1628551171PKHD1c.5942T= (p.Ile1981=)
c.5300T= (p.Ile1767=)
c.5231T= (p.Ile1744=)
c.17T= (p.Ile6=)
c.5867T= (p.Ile1956=)
c.5678T= (p.Ile1893=)
c.4082T= (p.Ile1361=)
n.6218T=
6g.51934289A>CCA364417939PKHD1c.5942T>G (p.Ile1981Ser)
c.5300T>G (p.Ile1767Ser)
c.5231T>G (p.Ile1744Ser)
c.17T>G (p.Ile6Ser)
c.5867T>G (p.Ile1956Ser)
c.5678T>G (p.Ile1893Ser)
c.4082T>G (p.Ile1361Ser)
n.6218T>G
6g.51934289A>GCA364417940PKHD1c.5942T>C (p.Ile1981Thr)
c.5300T>C (p.Ile1767Thr)
c.5231T>C (p.Ile1744Thr)
c.17T>C (p.Ile6Thr)
c.5867T>C (p.Ile1956Thr)
c.5678T>C (p.Ile1893Thr)
c.4082T>C (p.Ile1361Thr)
n.6218T>C
 dbSNP gnomAD v4
6g.51934289A>TCA364417941PKHD1c.5942T>A (p.Ile1981Asn)
c.5300T>A (p.Ile1767Asn)
c.5231T>A (p.Ile1744Asn)
c.17T>A (p.Ile6Asn)
c.5867T>A (p.Ile1956Asn)
c.5678T>A (p.Ile1893Asn)
c.4082T>A (p.Ile1361Asn)
n.6218T>A
6g.51934290T>ACA364417944PKHD1c.5941A>T (p.Ile1981Phe)
c.5299A>T (p.Ile1767Phe)
c.5230A>T (p.Ile1744Phe)
c.16A>T (p.Ile6Phe)
c.5866A>T (p.Ile1956Phe)
c.5677A>T (p.Ile1893Phe)
c.4081A>T (p.Ile1361Phe)
n.6217A>T
 dbSNP
6g.51934290T>CCA364417943PKHD1c.5941A>G (p.Ile1981Val)
c.5299A>G (p.Ile1767Val)
c.5230A>G (p.Ile1744Val)
c.16A>G (p.Ile6Val)
c.5866A>G (p.Ile1956Val)
c.5677A>G (p.Ile1893Val)
c.4081A>G (p.Ile1361Val)
n.6217A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51934290T>GCA364417942PKHD1c.5941A>C (p.Ile1981Leu)
c.5299A>C (p.Ile1767Leu)
c.5230A>C (p.Ile1744Leu)
c.16A>C (p.Ile6Leu)
c.5866A>C (p.Ile1956Leu)
c.5677A>C (p.Ile1893Leu)
c.4081A>C (p.Ile1361Leu)
n.6217A>C
6g.51934290T=CA1628551174PKHD1c.5941A= (p.Ile1981=)
c.5299A= (p.Ile1767=)
c.5230A= (p.Ile1744=)
c.16A= (p.Ile6=)
c.5866A= (p.Ile1956=)
c.5677A= (p.Ile1893=)
c.4081A= (p.Ile1361=)
n.6217A=
6g.51934290_51934291delinsTGCA1628551177PKHD1c.5940_5941delinsCA (p.Pro1980=)
c.5298_5299delinsCA (p.Pro1766=)
c.5229_5230delinsCA (p.Pro1743=)
c.15_16delinsCA (p.Pro5=)
c.5865_5866delinsCA (p.Pro1955=)
c.5676_5677delinsCA (p.Pro1892=)
c.4080_4081delinsCA (p.Pro1360=)
n.6216_6217delinsCA
6g.51934291G>ACA450416312PKHD1c.5940C>T (p.Pro1980=)
c.5298C>T (p.Pro1766=)
c.5229C>T (p.Pro1743=)
c.15C>T (p.Pro5=)
c.5865C>T (p.Pro1955=)
c.5676C>T (p.Pro1892=)
c.4080C>T (p.Pro1360=)
n.6216C>T
 ClinVar dbSNP
6g.51934291G>CCA450416313PKHD1c.5940C>G (p.Pro1980=)
c.5298C>G (p.Pro1766=)
c.5229C>G (p.Pro1743=)
c.15C>G (p.Pro5=)
c.5865C>G (p.Pro1955=)
c.5676C>G (p.Pro1892=)
c.4080C>G (p.Pro1360=)
n.6216C>G
6g.51934291G=CA1628551183PKHD1c.5940C= (p.Pro1980=)
c.5298C= (p.Pro1766=)
c.5229C= (p.Pro1743=)
c.15C= (p.Pro5=)
c.5865C= (p.Pro1955=)
c.5676C= (p.Pro1892=)
c.4080C= (p.Pro1360=)
n.6216C=
6g.51934291G>TCA450416314PKHD1c.5940C>A (p.Pro1980=)
c.5298C>A (p.Pro1766=)
c.5229C>A (p.Pro1743=)
c.15C>A (p.Pro5=)
c.5865C>A (p.Pro1955=)
c.5676C>A (p.Pro1892=)
c.4080C>A (p.Pro1360=)
n.6216C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51934293delCA1628551181PKHD1c.5940del (p.Ile1981SerfsTer?)
c.5298del (p.Ile1767SerfsTer?)
c.5229del (p.Ile1744SerfsTer?)
c.15del (p.Ile6SerfsTer?)
c.5865del (p.Ile1956SerfsTer?)
c.5676del (p.Ile1893SerfsTer?)
c.4080del (p.Ile1361SerfsTer?)
n.6216del
 dbSNP
6g.51934292G>ACA364417945PKHD1c.5939C>T (p.Pro1980Leu)
c.5297C>T (p.Pro1766Leu)
c.5228C>T (p.Pro1743Leu)
c.14C>T (p.Pro5Leu)
c.5864C>T (p.Pro1955Leu)
c.5675C>T (p.Pro1892Leu)
c.4079C>T (p.Pro1360Leu)
n.6215C>T
6g.51934292G>CCA364417946PKHD1c.5939C>G (p.Pro1980Arg)
c.5297C>G (p.Pro1766Arg)
c.5228C>G (p.Pro1743Arg)
c.14C>G (p.Pro5Arg)
c.5864C>G (p.Pro1955Arg)
c.5675C>G (p.Pro1892Arg)
c.4079C>G (p.Pro1360Arg)
n.6215C>G
6g.51934292G>TCA364417947PKHD1c.5939C>A (p.Pro1980His)
c.5297C>A (p.Pro1766His)
c.5228C>A (p.Pro1743His)
c.14C>A (p.Pro5His)
c.5864C>A (p.Pro1955His)
c.5675C>A (p.Pro1892His)
c.4079C>A (p.Pro1360His)
n.6215C>A
6g.51934292_51934293delinsAACA645561178PKHD1c.5938_5939delinsTT (p.Pro1980Phe)
c.5296_5297delinsTT (p.Pro1766Phe)
c.5227_5228delinsTT (p.Pro1743Phe)
c.13_14delinsTT (p.Pro5Phe)
c.5863_5864delinsTT (p.Pro1955Phe)
c.5674_5675delinsTT (p.Pro1892Phe)
c.4078_4079delinsTT (p.Pro1360Phe)
n.6214_6215delinsTT
 COSMIC COSMIC
6g.51934293G>ACA364417948PKHD1c.5938C>T (p.Pro1980Ser)
c.5296C>T (p.Pro1766Ser)
c.5227C>T (p.Pro1743Ser)
c.13C>T (p.Pro5Ser)
c.5863C>T (p.Pro1955Ser)
c.5674C>T (p.Pro1892Ser)
c.4078C>T (p.Pro1360Ser)
n.6214C>T
 gnomAD v4
6g.51934293G>CCA364417949PKHD1c.5938C>G (p.Pro1980Ala)
c.5296C>G (p.Pro1766Ala)
c.5227C>G (p.Pro1743Ala)
c.13C>G (p.Pro5Ala)
c.5863C>G (p.Pro1955Ala)
c.5674C>G (p.Pro1892Ala)
c.4078C>G (p.Pro1360Ala)
n.6214C>G
6g.51934293G>TCA364417950PKHD1c.5938C>A (p.Pro1980Thr)
c.5296C>A (p.Pro1766Thr)
c.5227C>A (p.Pro1743Thr)
c.13C>A (p.Pro5Thr)
c.5863C>A (p.Pro1955Thr)
c.5674C>A (p.Pro1892Thr)
c.4078C>A (p.Pro1360Thr)
n.6214C>A
6g.51934294T>ACA450416315PKHD1c.5937A>T (p.Gly1979=)
c.5295A>T (p.Gly1765=)
c.5226A>T (p.Gly1742=)
c.12A>T (p.Gly4=)
c.5862A>T (p.Gly1954=)
c.5673A>T (p.Gly1891=)
c.4077A>T (p.Gly1359=)
n.6213A>T
6g.51934294T>CCA450416316PKHD1c.5937A>G (p.Gly1979=)
c.5295A>G (p.Gly1765=)
c.5226A>G (p.Gly1742=)
c.12A>G (p.Gly4=)
c.5862A>G (p.Gly1954=)
c.5673A>G (p.Gly1891=)
c.4077A>G (p.Gly1359=)
n.6213A>G
 dbSNP
6g.51934294T>GCA450416317PKHD1c.5937A>C (p.Gly1979=)
c.5295A>C (p.Gly1765=)
c.5226A>C (p.Gly1742=)
c.12A>C (p.Gly4=)
c.5862A>C (p.Gly1954=)
c.5673A>C (p.Gly1891=)
c.4077A>C (p.Gly1359=)
n.6213A>C
6g.51934294T=CA1628551186PKHD1c.5937A= (p.Gly1979=)
c.5295A= (p.Gly1765=)
c.5226A= (p.Gly1742=)
c.12A= (p.Gly4=)
c.5862A= (p.Gly1954=)
c.5673A= (p.Gly1891=)
c.4077A= (p.Gly1359=)
n.6213A=
6g.51934295C>ACA364417953PKHD1c.5936G>T (p.Gly1979Val)
c.5294G>T (p.Gly1765Val)
c.5225G>T (p.Gly1742Val)
c.11G>T (p.Gly4Val)
c.5861G>T (p.Gly1954Val)
c.5672G>T (p.Gly1891Val)
c.4076G>T (p.Gly1359Val)
n.6212G>T
6g.51934295C>GCA364417951PKHD1c.5936G>C (p.Gly1979Ala)
c.5294G>C (p.Gly1765Ala)
c.5225G>C (p.Gly1742Ala)
c.11G>C (p.Gly4Ala)
c.5861G>C (p.Gly1954Ala)
c.5672G>C (p.Gly1891Ala)
c.4076G>C (p.Gly1359Ala)
n.6212G>C
6g.51934295C>TCA364417952PKHD1c.5936G>A (p.Gly1979Glu)
c.5294G>A (p.Gly1765Glu)
c.5225G>A (p.Gly1742Glu)
c.11G>A (p.Gly4Glu)
c.5861G>A (p.Gly1954Glu)
c.5672G>A (p.Gly1891Glu)
c.4076G>A (p.Gly1359Glu)
n.6212G>A
6g.51934296C>ACA364417954PKHD1c.5935G>T (p.Gly1979Ter)
c.5293G>T (p.Gly1765Ter)
c.5224G>T (p.Gly1742Ter)
c.10G>T (p.Gly4Ter)
c.5860G>T (p.Gly1954Ter)
c.5671G>T (p.Gly1891Ter)
c.4075G>T (p.Gly1359Ter)
n.6211G>T
6g.51934296C=CA1628551191PKHD1c.5935G= (p.Gly1979=)
c.5293G= (p.Gly1765=)
c.5224G= (p.Gly1742=)
c.10G= (p.Gly4=)
c.5860G= (p.Gly1954=)
c.5671G= (p.Gly1891=)
c.4075G= (p.Gly1359=)
n.6211G=
6g.51934296C>GCA364417955PKHD1c.5935G>C (p.Gly1979Arg)
c.5293G>C (p.Gly1765Arg)
c.5224G>C (p.Gly1742Arg)
c.10G>C (p.Gly4Arg)
c.5860G>C (p.Gly1954Arg)
c.5671G>C (p.Gly1891Arg)
c.4075G>C (p.Gly1359Arg)
n.6211G>C
6g.51934296C>TCA364417956PKHD1c.5935G>A (p.Gly1979Arg)
c.5293G>A (p.Gly1765Arg)
c.5224G>A (p.Gly1742Arg)
c.10G>A (p.Gly4Arg)
c.5860G>A (p.Gly1954Arg)
c.5671G>A (p.Gly1891Arg)
c.4075G>A (p.Gly1359Arg)
n.6211G>A
 ClinVar dbSNP gnomAD v4
6g.51934297T>ACA450416318PKHD1c.5934A>T (p.Pro1978=)
c.5292A>T (p.Pro1764=)
c.5223A>T (p.Pro1741=)
c.9A>T (p.Pro3=)
c.5859A>T (p.Pro1953=)
c.5670A>T (p.Pro1890=)
c.4074A>T (p.Pro1358=)
n.6210A>T
6g.51934297T>CCA450416319PKHD1c.5934A>G (p.Pro1978=)
c.5292A>G (p.Pro1764=)
c.5223A>G (p.Pro1741=)
c.9A>G (p.Pro3=)
c.5859A>G (p.Pro1953=)
c.5670A>G (p.Pro1890=)
c.4074A>G (p.Pro1358=)
n.6210A>G
6g.51934297T>GCA450416320PKHD1c.5934A>C (p.Pro1978=)
c.5292A>C (p.Pro1764=)
c.5223A>C (p.Pro1741=)
c.9A>C (p.Pro3=)
c.5859A>C (p.Pro1953=)
c.5670A>C (p.Pro1890=)
c.4074A>C (p.Pro1358=)
n.6210A>C
6g.51934298G>ACA364417957PKHD1c.5933C>T (p.Pro1978Leu)
c.5291C>T (p.Pro1764Leu)
c.5222C>T (p.Pro1741Leu)
c.8C>T (p.Pro3Leu)
c.5858C>T (p.Pro1953Leu)
c.5669C>T (p.Pro1890Leu)
c.4073C>T (p.Pro1358Leu)
n.6209C>T
6g.51934298G>CCA364417958PKHD1c.5933C>G (p.Pro1978Arg)
c.5291C>G (p.Pro1764Arg)
c.5222C>G (p.Pro1741Arg)
c.8C>G (p.Pro3Arg)
c.5858C>G (p.Pro1953Arg)
c.5669C>G (p.Pro1890Arg)
c.4073C>G (p.Pro1358Arg)
n.6209C>G
 gnomAD v4
6g.51934298G>TCA364417959PKHD1c.5933C>A (p.Pro1978Gln)
c.5291C>A (p.Pro1764Gln)
c.5222C>A (p.Pro1741Gln)
c.8C>A (p.Pro3Gln)
c.5858C>A (p.Pro1953Gln)
c.5669C>A (p.Pro1890Gln)
c.4073C>A (p.Pro1358Gln)
n.6209C>A
6g.51934299G>ACA364417960PKHD1c.5932C>T (p.Pro1978Ser)
c.5290C>T (p.Pro1764Ser)
c.5221C>T (p.Pro1741Ser)
c.7C>T (p.Pro3Ser)
c.5857C>T (p.Pro1953Ser)
c.5668C>T (p.Pro1890Ser)
c.4072C>T (p.Pro1358Ser)
n.6208C>T
 gnomAD v4
6g.51934299G>CCA364417961PKHD1c.5932C>G (p.Pro1978Ala)
c.5290C>G (p.Pro1764Ala)
c.5221C>G (p.Pro1741Ala)
c.7C>G (p.Pro3Ala)
c.5857C>G (p.Pro1953Ala)
c.5668C>G (p.Pro1890Ala)
c.4072C>G (p.Pro1358Ala)
n.6208C>G
6g.51934299G>TCA364417962PKHD1c.5932C>A (p.Pro1978Thr)
c.5290C>A (p.Pro1764Thr)
c.5221C>A (p.Pro1741Thr)
c.7C>A (p.Pro3Thr)
c.5857C>A (p.Pro1953Thr)
c.5668C>A (p.Pro1890Thr)
c.4072C>A (p.Pro1358Thr)
n.6208C>A
 COSMIC COSMIC
6g.51934300G>ACA450416321PKHD1c.5931C>T (p.Ala1977=)
c.5289C>T (p.Ala1763=)
c.5220C>T (p.Ala1740=)
c.6C>T (p.Ala2=)
c.5856C>T (p.Ala1952=)
c.5667C>T (p.Ala1889=)
c.4071C>T (p.Ala1357=)
n.6207C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51934300G>CCA450416322PKHD1c.5931C>G (p.Ala1977=)
c.5289C>G (p.Ala1763=)
c.5220C>G (p.Ala1740=)
c.6C>G (p.Ala2=)
c.5856C>G (p.Ala1952=)
c.5667C>G (p.Ala1889=)
c.4071C>G (p.Ala1357=)
n.6207C>G
 gnomAD v4
6g.51934300G=CA1628551194PKHD1c.5931C= (p.Ala1977=)
c.5289C= (p.Ala1763=)
c.5220C= (p.Ala1740=)
c.6C= (p.Ala2=)
c.5856C= (p.Ala1952=)
c.5667C= (p.Ala1889=)
c.4071C= (p.Ala1357=)
n.6207C=
6g.51934300G>TCA450416323PKHD1c.5931C>A (p.Ala1977=)
c.5289C>A (p.Ala1763=)
c.5220C>A (p.Ala1740=)
c.6C>A (p.Ala2=)
c.5856C>A (p.Ala1952=)
c.5667C>A (p.Ala1889=)
c.4071C>A (p.Ala1357=)
n.6207C>A
6g.51934301G>ACA364417963PKHD1c.5930C>T (p.Ala1977Val)
c.5288C>T (p.Ala1763Val)
c.5219C>T (p.Ala1740Val)
c.5C>T (p.Ala2Val)
c.5855C>T (p.Ala1952Val)
c.5666C>T (p.Ala1889Val)
c.4070C>T (p.Ala1357Val)
n.6206C>T
 gnomAD v4
6g.51934301G>CCA364417964PKHD1c.5930C>G (p.Ala1977Gly)
c.5288C>G (p.Ala1763Gly)
c.5219C>G (p.Ala1740Gly)
c.5C>G (p.Ala2Gly)
c.5855C>G (p.Ala1952Gly)
c.5666C>G (p.Ala1889Gly)
c.4070C>G (p.Ala1357Gly)
n.6206C>G
6g.51934301G>TCA364417965PKHD1c.5930C>A (p.Ala1977Asp)
c.5288C>A (p.Ala1763Asp)
c.5219C>A (p.Ala1740Asp)
c.5C>A (p.Ala2Asp)
c.5855C>A (p.Ala1952Asp)
c.5666C>A (p.Ala1889Asp)
c.4070C>A (p.Ala1357Asp)
n.6206C>A
6g.51934302C>ACA364417966PKHD1c.5929G>T (p.Ala1977Ser)
c.5287G>T (p.Ala1763Ser)
c.5218G>T (p.Ala1740Ser)
c.4G>T (p.Ala2Ser)
c.5854G>T (p.Ala1952Ser)
c.5665G>T (p.Ala1889Ser)
c.4069G>T (p.Ala1357Ser)
n.6205G>T
6g.51934302C>GCA364417968PKHD1c.5929G>C (p.Ala1977Pro)
c.5287G>C (p.Ala1763Pro)
c.5218G>C (p.Ala1740Pro)
c.4G>C (p.Ala2Pro)
c.5854G>C (p.Ala1952Pro)
c.5665G>C (p.Ala1889Pro)
c.4069G>C (p.Ala1357Pro)
n.6205G>C
6g.51934302C>TCA364417967PKHD1c.5929G>A (p.Ala1977Thr)
c.5287G>A (p.Ala1763Thr)
c.5218G>A (p.Ala1740Thr)
c.4G>A (p.Ala2Thr)
c.5854G>A (p.Ala1952Thr)
c.5665G>A (p.Ala1889Thr)
c.4069G>A (p.Ala1357Thr)
n.6205G>A
6g.51934303delCA2578645247PKHD1c.5929del (p.Ala1977ProfsTer?)
c.5287del (p.Ala1763ProfsTer?)
c.5218del (p.Ala1740ProfsTer?)
c.4del (p.Ala2ProfsTer?)
c.5854del (p.Ala1952ProfsTer?)
c.5665del (p.Ala1889ProfsTer?)
c.4069del (p.Ala1357ProfsTer?)
n.6205del
6g.51934303C>ACA364417969PKHD1c.5928G>T (p.Met1976Ile)
c.5286G>T (p.Met1762Ile)
c.5217G>T (p.Met1739Ile)
c.3G>T (p.Met1Ile)
c.5853G>T (p.Met1951Ile)
c.5664G>T (p.Met1888Ile)
c.4068G>T (p.Met1356Ile)
n.6204G>T
6g.51934303C>GCA364417970PKHD1c.5928G>C (p.Met1976Ile)
c.5286G>C (p.Met1762Ile)
c.5217G>C (p.Met1739Ile)
c.3G>C (p.Met1Ile)
c.5853G>C (p.Met1951Ile)
c.5664G>C (p.Met1888Ile)
c.4068G>C (p.Met1356Ile)
n.6204G>C
6g.51934303C>TCA364417971PKHD1c.5928G>A (p.Met1976Ile)
c.5286G>A (p.Met1762Ile)
c.5217G>A (p.Met1739Ile)
c.3G>A (p.Met1Ile)
c.5853G>A (p.Met1951Ile)
c.5664G>A (p.Met1888Ile)
c.4068G>A (p.Met1356Ile)
n.6204G>A
6g.51934304A=CA1628551198PKHD1c.5927T= (p.Met1976=)
c.5285T= (p.Met1762=)
c.5216T= (p.Met1739=)
c.2T= (p.Met1=)
c.5852T= (p.Met1951=)
c.5663T= (p.Met1888=)
c.4067T= (p.Met1356=)
n.6203T=
6g.51934304A>CCA364417972PKHD1c.5927T>G (p.Met1976Arg)
c.5285T>G (p.Met1762Arg)
c.5216T>G (p.Met1739Arg)
c.2T>G (p.Met1Arg)
c.5852T>G (p.Met1951Arg)
c.5663T>G (p.Met1888Arg)
c.4067T>G (p.Met1356Arg)
n.6203T>G
6g.51934304A>GCA364417973PKHD1c.5927T>C (p.Met1976Thr)
c.5285T>C (p.Met1762Thr)
c.5216T>C (p.Met1739Thr)
c.2T>C (p.Met1Thr)
c.5852T>C (p.Met1951Thr)
c.5663T>C (p.Met1888Thr)
c.4067T>C (p.Met1356Thr)
n.6203T>C
 dbSNP gnomAD v2 gnomAD v4
6g.51934304A>TCA364417974PKHD1c.5927T>A (p.Met1976Lys)
c.5285T>A (p.Met1762Lys)
c.5216T>A (p.Met1739Lys)
c.2T>A (p.Met1Lys)
c.5852T>A (p.Met1951Lys)
c.5663T>A (p.Met1888Lys)
c.4067T>A (p.Met1356Lys)
n.6203T>A
 gnomAD v4
6g.51934305T>ACA364417975PKHD1c.5926A>T (p.Met1976Leu)
c.5284A>T (p.Met1762Leu)
c.5215A>T (p.Met1739Leu)
c.1A>T (p.Met1Leu)
c.5851A>T (p.Met1951Leu)
c.5662A>T (p.Met1888Leu)
c.4066A>T (p.Met1356Leu)
n.6202A>T
6g.51934305T>CCA364417976PKHD1c.5926A>G (p.Met1976Val)
c.5284A>G (p.Met1762Val)
c.5215A>G (p.Met1739Val)
c.1A>G (p.Met1Val)
c.5851A>G (p.Met1951Val)
c.5662A>G (p.Met1888Val)
c.4066A>G (p.Met1356Val)
n.6202A>G
 dbSNP
6g.51934305T>GCA364417977PKHD1c.5926A>C (p.Met1976Leu)
c.5284A>C (p.Met1762Leu)
c.5215A>C (p.Met1739Leu)
c.1A>C (p.Met1Leu)
c.5851A>C (p.Met1951Leu)
c.5662A>C (p.Met1888Leu)
c.4066A>C (p.Met1356Leu)
n.6202A>C
 gnomAD v4
6g.51934305T=CA1628551202PKHD1c.5926A= (p.Met1976=)
c.5284A= (p.Met1762=)
c.5215A= (p.Met1739=)
c.1A= (p.Met1=)
c.5851A= (p.Met1951=)
c.5662A= (p.Met1888=)
c.4066A= (p.Met1356=)
n.6202A=
6g.51934306G>ACA450416324PKHD1c.5925C>T (p.Phe1975=)
c.5283C>T (p.Phe1761=)
c.5214C>T (p.Phe1738=)
c.-1C>T (n.-1C>T)
c.5850C>T (p.Phe1950=)
c.5661C>T (p.Phe1887=)
c.4065C>T (p.Phe1355=)
n.6201C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51934306G>CCA138915211PKHD1c.5925C>G (p.Phe1975Leu)
c.5283C>G (p.Phe1761Leu)
c.5214C>G (p.Phe1738Leu)
c.-1C>G (n.-1C>G)
c.5850C>G (p.Phe1950Leu)
c.5661C>G (p.Phe1887Leu)
c.4065C>G (p.Phe1355Leu)
n.6201C>G
 dbSNP
6g.51934306G=CA1628551207PKHD1c.5925C= (p.Phe1975=)
c.5283C= (p.Phe1761=)
c.5214C= (p.Phe1738=)
c.-1C= (n.-1C=)
c.5850C= (p.Phe1950=)
c.5661C= (p.Phe1887=)
c.4065C= (p.Phe1355=)
n.6201C=
6g.51934306G>TCA364417978PKHD1c.5925C>A (p.Phe1975Leu)
c.5283C>A (p.Phe1761Leu)
c.5214C>A (p.Phe1738Leu)
c.-1C>A (n.-1C>A)
c.5850C>A (p.Phe1950Leu)
c.5661C>A (p.Phe1887Leu)
c.4065C>A (p.Phe1355Leu)
n.6201C>A
6g.51934307A>CCA364417981PKHD1c.5924T>G (p.Phe1975Cys)
c.5282T>G (p.Phe1761Cys)
c.5213T>G (p.Phe1738Cys)
c.-2T>G (n.-2T>G)
c.5849T>G (p.Phe1950Cys)
c.5660T>G (p.Phe1887Cys)
c.4064T>G (p.Phe1355Cys)
n.6200T>G
6g.51934307A>GCA364417980PKHD1c.5924T>C (p.Phe1975Ser)
c.5282T>C (p.Phe1761Ser)
c.5213T>C (p.Phe1738Ser)
c.-2T>C (n.-2T>C)
c.5849T>C (p.Phe1950Ser)
c.5660T>C (p.Phe1887Ser)
c.4064T>C (p.Phe1355Ser)
n.6200T>C
6g.51934307A>TCA364417979PKHD1c.5924T>A (p.Phe1975Tyr)
c.5282T>A (p.Phe1761Tyr)
c.5213T>A (p.Phe1738Tyr)
c.-2T>A (n.-2T>A)
c.5849T>A (p.Phe1950Tyr)
c.5660T>A (p.Phe1887Tyr)
c.4064T>A (p.Phe1355Tyr)
n.6200T>A
6g.51934308A>CCA364417982PKHD1c.5923T>G (p.Phe1975Val)
c.5281T>G (p.Phe1761Val)
c.5212T>G (p.Phe1738Val)
c.-3T>G (n.-3T>G)
c.5848T>G (p.Phe1950Val)
c.5659T>G (p.Phe1887Val)
c.4063T>G (p.Phe1355Val)
n.6199T>G
6g.51934308A>GCA364417983PKHD1c.5923T>C (p.Phe1975Leu)
c.5281T>C (p.Phe1761Leu)
c.5212T>C (p.Phe1738Leu)
c.-3T>C (n.-3T>C)
c.5848T>C (p.Phe1950Leu)
c.5659T>C (p.Phe1887Leu)
c.4063T>C (p.Phe1355Leu)
n.6199T>C
6g.51934308A>TCA364417984PKHD1c.5923T>A (p.Phe1975Ile)
c.5281T>A (p.Phe1761Ile)
c.5212T>A (p.Phe1738Ile)
c.-3T>A (n.-3T>A)
c.5848T>A (p.Phe1950Ile)
c.5659T>A (p.Phe1887Ile)
c.4063T>A (p.Phe1355Ile)
n.6199T>A
6g.51934309A>CCA364417985PKHD1c.5922T>G (p.Ile1974Met)
c.5280T>G (p.Ile1760Met)
c.5211T>G (p.Ile1737Met)
c.-4T>G (n.-4T>G)
c.5847T>G (p.Ile1949Met)
c.5658T>G (p.Ile1886Met)
c.4062T>G (p.Ile1354Met)
n.6198T>G
6g.51934309A>GCA450416325PKHD1c.5922T>C (p.Ile1974=)
c.5280T>C (p.Ile1760=)
c.5211T>C (p.Ile1737=)
c.-4T>C (n.-4T>C)
c.5847T>C (p.Ile1949=)
c.5658T>C (p.Ile1886=)
c.4062T>C (p.Ile1354=)
n.6198T>C
6g.51934309A>TCA450416326PKHD1c.5922T>A (p.Ile1974=)
c.5280T>A (p.Ile1760=)
c.5211T>A (p.Ile1737=)
c.-4T>A (n.-4T>A)
c.5847T>A (p.Ile1949=)
c.5658T>A (p.Ile1886=)
c.4062T>A (p.Ile1354=)
n.6198T>A
6g.51934310A>CCA364417986PKHD1c.5921T>G (p.Ile1974Ser)
c.5279T>G (p.Ile1760Ser)
c.5210T>G (p.Ile1737Ser)
c.-5T>G (n.-5T>G)
c.5846T>G (p.Ile1949Ser)
c.5657T>G (p.Ile1886Ser)
c.4061T>G (p.Ile1354Ser)
n.6197T>G
6g.51934310A>GCA364417987PKHD1c.5921T>C (p.Ile1974Thr)
c.5279T>C (p.Ile1760Thr)
c.5210T>C (p.Ile1737Thr)
c.-5T>C (n.-5T>C)
c.5846T>C (p.Ile1949Thr)
c.5657T>C (p.Ile1886Thr)
c.4061T>C (p.Ile1354Thr)
n.6197T>C
6g.51934310A>TCA364417988PKHD1c.5921T>A (p.Ile1974Asn)
c.5279T>A (p.Ile1760Asn)
c.5210T>A (p.Ile1737Asn)
c.-5T>A (n.-5T>A)
c.5846T>A (p.Ile1949Asn)
c.5657T>A (p.Ile1886Asn)
c.4061T>A (p.Ile1354Asn)
n.6197T>A
6g.51934311T>ACA364417989PKHD1c.5920A>T (p.Ile1974Phe)
c.5278A>T (p.Ile1760Phe)
c.5209A>T (p.Ile1737Phe)
c.-6A>T (n.-6A>T)
c.5845A>T (p.Ile1949Phe)
c.5656A>T (p.Ile1886Phe)
c.4060A>T (p.Ile1354Phe)
n.6196A>T
6g.51934311T>CCA364417990PKHD1c.5920A>G (p.Ile1974Val)
c.5278A>G (p.Ile1760Val)
c.5209A>G (p.Ile1737Val)
c.-6A>G (n.-6A>G)
c.5845A>G (p.Ile1949Val)
c.5656A>G (p.Ile1886Val)
c.4060A>G (p.Ile1354Val)
n.6196A>G
6g.51934311T>GCA364417991PKHD1c.5920A>C (p.Ile1974Leu)
c.5278A>C (p.Ile1760Leu)
c.5209A>C (p.Ile1737Leu)
c.-6A>C (n.-6A>C)
c.5845A>C (p.Ile1949Leu)
c.5656A>C (p.Ile1886Leu)
c.4060A>C (p.Ile1354Leu)
n.6196A>C
6g.51934312C>ACA450416327PKHD1c.5919G>T (p.Leu1973=)
c.5277G>T (p.Leu1759=)
c.5208G>T (p.Leu1736=)
c.-7G>T (n.-7G>T)
c.5844G>T (p.Leu1948=)
c.5655G>T (p.Leu1885=)
c.4059G>T (p.Leu1353=)
n.6195G>T
6g.51934312C=CA1628551208PKHD1c.5919G= (p.Leu1973=)
c.5277G= (p.Leu1759=)
c.5208G= (p.Leu1736=)
c.-7G= (n.-7G=)
c.5844G= (p.Leu1948=)
c.5655G= (p.Leu1885=)
c.4059G= (p.Leu1353=)
n.6195G=
6g.51934312C>GCA450416328PKHD1c.5919G>C (p.Leu1973=)
c.5277G>C (p.Leu1759=)
c.5208G>C (p.Leu1736=)
c.-7G>C (n.-7G>C)
c.5844G>C (p.Leu1948=)
c.5655G>C (p.Leu1885=)
c.4059G>C (p.Leu1353=)
n.6195G>C
6g.51934312C>TCA3852376PKHD1c.5919G>A (p.Leu1973=)
c.5277G>A (p.Leu1759=)
c.5208G>A (p.Leu1736=)
c.-7G>A (n.-7G>A)
c.5844G>A (p.Leu1948=)
c.5655G>A (p.Leu1885=)
c.4059G>A (p.Leu1353=)
n.6195G>A
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
6g.51934313A>CCA364417994PKHD1c.5918T>G (p.Leu1973Arg)
c.5276T>G (p.Leu1759Arg)
c.5207T>G (p.Leu1736Arg)
c.-8T>G (n.-8T>G)
c.5843T>G (p.Leu1948Arg)
c.5654T>G (p.Leu1885Arg)
c.4058T>G (p.Leu1353Arg)
n.6194T>G
6g.51934313A>GCA364417993PKHD1c.5918T>C (p.Leu1973Pro)
c.5276T>C (p.Leu1759Pro)
c.5207T>C (p.Leu1736Pro)
c.-8T>C (n.-8T>C)
c.5843T>C (p.Leu1948Pro)
c.5654T>C (p.Leu1885Pro)
c.4058T>C (p.Leu1353Pro)
n.6194T>C
6g.51934313A>TCA364417992PKHD1c.5918T>A (p.Leu1973Gln)
c.5276T>A (p.Leu1759Gln)
c.5207T>A (p.Leu1736Gln)
c.-8T>A (n.-8T>A)
c.5843T>A (p.Leu1948Gln)
c.5654T>A (p.Leu1885Gln)
c.4058T>A (p.Leu1353Gln)
n.6194T>A
6g.51934314G>ACA450416329PKHD1c.5917C>T (p.Leu1973=)
c.5275C>T (p.Leu1759=)
c.5206C>T (p.Leu1736=)
c.-9C>T (n.-9C>T)
c.5842C>T (p.Leu1948=)
c.5653C>T (p.Leu1885=)
c.4057C>T (p.Leu1353=)
n.6193C>T
 ClinVar
6g.51934314G>CCA364417995PKHD1c.5917C>G (p.Leu1973Val)
c.5275C>G (p.Leu1759Val)
c.5206C>G (p.Leu1736Val)
c.-9C>G (n.-9C>G)
c.5842C>G (p.Leu1948Val)
c.5653C>G (p.Leu1885Val)
c.4057C>G (p.Leu1353Val)
n.6193C>G
6g.51934314G>TCA364417996PKHD1c.5917C>A (p.Leu1973Met)
c.5275C>A (p.Leu1759Met)
c.5206C>A (p.Leu1736Met)
c.-9C>A (n.-9C>A)
c.5842C>A (p.Leu1948Met)
c.5653C>A (p.Leu1885Met)
c.4057C>A (p.Leu1353Met)
n.6193C>A
6g.51934315C>ACA364417997PKHD1c.5916G>T (p.Lys1972Asn)
c.5274G>T (p.Lys1758Asn)
c.5205G>T (p.Lys1735Asn)
c.-10G>T (n.-10G>T)
c.5841G>T (p.Lys1947Asn)
c.5652G>T (p.Lys1884Asn)
c.4056G>T (p.Lys1352Asn)
n.6192G>T
6g.51934315C>GCA364417998PKHD1c.5916G>C (p.Lys1972Asn)
c.5274G>C (p.Lys1758Asn)
c.5205G>C (p.Lys1735Asn)
c.-10G>C (n.-10G>C)
c.5841G>C (p.Lys1947Asn)
c.5652G>C (p.Lys1884Asn)
c.4056G>C (p.Lys1352Asn)
n.6192G>C
6g.51934315C>TCA450416330PKHD1c.5916G>A (p.Lys1972=)
c.5274G>A (p.Lys1758=)
c.5205G>A (p.Lys1735=)
c.-10G>A (n.-10G>A)
c.5841G>A (p.Lys1947=)
c.5652G>A (p.Lys1884=)
c.4056G>A (p.Lys1352=)
n.6192G>A
 ClinVar dbSNP
6g.51934316T>ACA364417999PKHD1c.5915A>T (p.Lys1972Met)
c.5273A>T (p.Lys1758Met)
c.5204A>T (p.Lys1735Met)
c.-11A>T (n.-11A>T)
c.5840A>T (p.Lys1947Met)
c.5651A>T (p.Lys1884Met)
c.4055A>T (p.Lys1352Met)
n.6191A>T
6g.51934316T>CCA364418000PKHD1c.5915A>G (p.Lys1972Arg)
c.5273A>G (p.Lys1758Arg)
c.5204A>G (p.Lys1735Arg)
c.-11A>G (n.-11A>G)
c.5840A>G (p.Lys1947Arg)
c.5651A>G (p.Lys1884Arg)
c.4055A>G (p.Lys1352Arg)
n.6191A>G
6g.51934316T>GCA364418001PKHD1c.5915A>C (p.Lys1972Thr)
c.5273A>C (p.Lys1758Thr)
c.5204A>C (p.Lys1735Thr)
c.-11A>C (n.-11A>C)
c.5840A>C (p.Lys1947Thr)
c.5651A>C (p.Lys1884Thr)
c.4055A>C (p.Lys1352Thr)
n.6191A>C
6g.51934317T>ACA364418002PKHD1c.5914A>T (p.Lys1972Ter)
c.5272A>T (p.Lys1758Ter)
c.5203A>T (p.Lys1735Ter)
c.-12A>T (n.-12A>T)
c.5839A>T (p.Lys1947Ter)
c.5650A>T (p.Lys1884Ter)
c.4054A>T (p.Lys1352Ter)
n.6190A>T
6g.51934317T>CCA364418003PKHD1c.5914A>G (p.Lys1972Glu)
c.5272A>G (p.Lys1758Glu)
c.5203A>G (p.Lys1735Glu)
c.-12A>G (n.-12A>G)
c.5839A>G (p.Lys1947Glu)
c.5650A>G (p.Lys1884Glu)
c.4054A>G (p.Lys1352Glu)
n.6190A>G
6g.51934317T>GCA364418004PKHD1c.5914A>C (p.Lys1972Gln)
c.5272A>C (p.Lys1758Gln)
c.5203A>C (p.Lys1735Gln)
c.-12A>C (n.-12A>C)
c.5839A>C (p.Lys1947Gln)
c.5650A>C (p.Lys1884Gln)
c.4054A>C (p.Lys1352Gln)
n.6190A>C
6g.51934318G>ACA450416331PKHD1c.5913C>T (p.Gly1971=)
c.5271C>T (p.Gly1757=)
c.5202C>T (p.Gly1734=)
c.-13C>T (n.-13C>T)
c.5838C>T (p.Gly1946=)
c.5649C>T (p.Gly1883=)
c.4053C>T (p.Gly1351=)
n.6189C>T
6g.51934318G>CCA450416332PKHD1c.5913C>G (p.Gly1971=)
c.5271C>G (p.Gly1757=)
c.5202C>G (p.Gly1734=)
c.-13C>G (n.-13C>G)
c.5838C>G (p.Gly1946=)
c.5649C>G (p.Gly1883=)
c.4053C>G (p.Gly1351=)
n.6189C>G
6g.51934318G=CA1628551212PKHD1c.5913C= (p.Gly1971=)
c.5271C= (p.Gly1757=)
c.5202C= (p.Gly1734=)
c.-13C= (n.-13C=)
c.5838C= (p.Gly1946=)
c.5649C= (p.Gly1883=)
c.4053C= (p.Gly1351=)
n.6189C=
6g.51934318G>TCA450416333PKHD1c.5913C>A (p.Gly1971=)
c.5271C>A (p.Gly1757=)
c.5202C>A (p.Gly1734=)
c.-13C>A (n.-13C>A)
c.5838C>A (p.Gly1946=)
c.5649C>A (p.Gly1883=)
c.4053C>A (p.Gly1351=)
n.6189C>A
 ClinVar gnomAD v4
6g.51934319C>ACA364418005PKHD1c.5912G>T (p.Gly1971Val)
c.5270G>T (p.Gly1757Val)
c.5201G>T (p.Gly1734Val)
c.-14G>T (n.-14G>T)
c.5837G>T (p.Gly1946Val)
c.5648G>T (p.Gly1883Val)
c.4052G>T (p.Gly1351Val)
n.6188G>T
6g.51934319C=CA1628551218PKHD1c.5912G= (p.Gly1971=)
c.5270G= (p.Gly1757=)
c.5201G= (p.Gly1734=)
c.-14G= (n.-14G=)
c.5837G= (p.Gly1946=)
c.5648G= (p.Gly1883=)
c.4052G= (p.Gly1351=)
n.6188G=
6g.51934319C>GCA364418006PKHD1c.5912G>C (p.Gly1971Ala)
c.5270G>C (p.Gly1757Ala)
c.5201G>C (p.Gly1734Ala)
c.-14G>C (n.-14G>C)
c.5837G>C (p.Gly1946Ala)
c.5648G>C (p.Gly1883Ala)
c.4052G>C (p.Gly1351Ala)
n.6188G>C
6g.51934319C>TCA3852378PKHD1c.5912G>A (p.Gly1971Asp)
c.5270G>A (p.Gly1757Asp)
c.5201G>A (p.Gly1734Asp)
c.-14G>A (n.-14G>A)
c.5837G>A (p.Gly1946Asp)
c.5648G>A (p.Gly1883Asp)
c.4052G>A (p.Gly1351Asp)
n.6188G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51934323dupCA3852377PKHD1c.5912dup
c.5270dup
c.5201dup
c.-14dup
c.5837dup
c.5648dup
c.4052dup
n.6188dup
 dbSNP ExAC gnomAD v2
6g.51934323delCA2679084507PKHD1c.5912del
c.5270del
c.5201del
c.-14del
c.5837del
c.5648del
c.4052del
n.6188del
 gnomAD v4
6g.51934320C>ACA364418009PKHD1c.5911G>T (p.Gly1971Cys)
c.5269G>T (p.Gly1757Cys)
c.5200G>T (p.Gly1734Cys)
c.-15G>T (n.-15G>T)
c.5836G>T (p.Gly1946Cys)
c.5647G>T (p.Gly1883Cys)
c.4051G>T (p.Gly1351Cys)
n.6187G>T
 gnomAD v4
6g.51934320C>GCA364418007PKHD1c.5911G>C (p.Gly1971Arg)
c.5269G>C (p.Gly1757Arg)
c.5200G>C (p.Gly1734Arg)
c.-15G>C (n.-15G>C)
c.5836G>C (p.Gly1946Arg)
c.5647G>C (p.Gly1883Arg)
c.4051G>C (p.Gly1351Arg)
n.6187G>C
 gnomAD v4
6g.51934320C>TCA364418008PKHD1c.5911G>A (p.Gly1971Ser)
c.5269G>A (p.Gly1757Ser)
c.5200G>A (p.Gly1734Ser)
c.-15G>A (n.-15G>A)
c.5836G>A (p.Gly1946Ser)
c.5647G>A (p.Gly1883Ser)
c.4051G>A (p.Gly1351Ser)
n.6187G>A
 COSMIC COSMIC
6g.51934321C>ACA450416334PKHD1c.5910G>T (p.Gly1970=)
c.5268G>T (p.Gly1756=)
c.5199G>T (p.Gly1733=)
c.-16G>T (n.-16G>T)
c.5835G>T (p.Gly1945=)
c.5646G>T (p.Gly1882=)
c.4050G>T (p.Gly1350=)
n.6186G>T
6g.51934321C=CA1628551225PKHD1c.5910G= (p.Gly1970=)
c.5268G= (p.Gly1756=)
c.5199G= (p.Gly1733=)
c.-16G= (n.-16G=)
c.5835G= (p.Gly1945=)
c.5646G= (p.Gly1882=)
c.4050G= (p.Gly1350=)
n.6186G=
6g.51934321C>GCA450416335PKHD1c.5910G>C (p.Gly1970=)
c.5268G>C (p.Gly1756=)
c.5199G>C (p.Gly1733=)
c.-16G>C (n.-16G>C)
c.5835G>C (p.Gly1945=)
c.5646G>C (p.Gly1882=)
c.4050G>C (p.Gly1350=)
n.6186G>C
6g.51934321C>TCA3852379PKHD1c.5910G>A (p.Gly1970=)
c.5268G>A (p.Gly1756=)
c.5199G>A (p.Gly1733=)
c.-16G>A (n.-16G>A)
c.5835G>A (p.Gly1945=)
c.5646G>A (p.Gly1882=)
c.4050G>A (p.Gly1350=)
n.6186G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51934322C>ACA364418010PKHD1c.5909G>T (p.Gly1970Val)
c.5267G>T (p.Gly1756Val)
c.5198G>T (p.Gly1733Val)
c.-17G>T (n.-17G>T)
c.5834G>T (p.Gly1945Val)
c.5645G>T (p.Gly1882Val)
c.4049G>T (p.Gly1350Val)
n.6185G>T
6g.51934322C=CA1628551236PKHD1c.5909G= (p.Gly1970=)
c.5267G= (p.Gly1756=)
c.5198G= (p.Gly1733=)
c.-17G= (n.-17G=)
c.5834G= (p.Gly1945=)
c.5645G= (p.Gly1882=)
c.4049G= (p.Gly1350=)
n.6185G=
6g.51934322C>GCA364418011PKHD1c.5909G>C (p.Gly1970Ala)
c.5267G>C (p.Gly1756Ala)
c.5198G>C (p.Gly1733Ala)
c.-17G>C (n.-17G>C)
c.5834G>C (p.Gly1945Ala)
c.5645G>C (p.Gly1882Ala)
c.4049G>C (p.Gly1350Ala)
n.6185G>C
 dbSNP
6g.51934322C>TCA3852380PKHD1c.5909G>A (p.Gly1970Glu)
c.5267G>A (p.Gly1756Glu)
c.5198G>A (p.Gly1733Glu)
c.-17G>A (n.-17G>A)
c.5834G>A (p.Gly1945Glu)
c.5645G>A (p.Gly1882Glu)
c.4049G>A (p.Gly1350Glu)
n.6185G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51934323C>ACA364418012PKHD1c.5909-1G>T (n.5909-1G>T)
c.5267-1G>T (n.5267-1G>T)
c.5198-1G>T (n.5198-1G>T)
c.-17-1G>T (n.-17-1G>T)
c.5834-1G>T (n.5834-1G>T)
c.5645-1G>T (n.5645-1G>T)
c.4049-1G>T (n.4049-1G>T)
n.6185-1G>T
6g.51934323C>GCA364418013PKHD1c.5909-1G>C (n.5909-1G>C)
c.5267-1G>C (n.5267-1G>C)
c.5198-1G>C (n.5198-1G>C)
c.-17-1G>C (n.-17-1G>C)
c.5834-1G>C (n.5834-1G>C)
c.5645-1G>C (n.5645-1G>C)
c.4049-1G>C (n.4049-1G>C)
n.6185-1G>C
 gnomAD v4
6g.51934323C>TCA364418014PKHD1c.5909-1G>A (n.5909-1G>A)
c.5267-1G>A (n.5267-1G>A)
c.5198-1G>A (n.5198-1G>A)
c.-17-1G>A (n.-17-1G>A)
c.5834-1G>A (n.5834-1G>A)
c.5645-1G>A (n.5645-1G>A)
c.4049-1G>A (n.4049-1G>A)
n.6185-1G>A
6g.51934323_51934324delCA913110707PKHD1c.5909-2_5909-1del (n.5909-2_5909-1del)
c.5267-2_5267-1del (n.5267-2_5267-1del)
c.5198-2_5198-1del (n.5198-2_5198-1del)
c.-17-2_-17-1del (n.-17-2_-17-1del)
c.5834-2_5834-1del (n.5834-2_5834-1del)
c.5645-2_5645-1del (n.5645-2_5645-1del)
c.4049-2_4049-1del (n.4049-2_4049-1del)
n.6185-2_6185-1del
6g.51934323_51934324delinsCTCA1628551240PKHD1c.5909-2_5909-1delinsAG (n.5909-2_5909-1delinsAG)
c.5267-2_5267-1delinsAG (n.5267-2_5267-1delinsAG)
c.5198-2_5198-1delinsAG (n.5198-2_5198-1delinsAG)
c.-17-2_-17-1delinsAG (n.-17-2_-17-1delinsAG)
c.5834-2_5834-1delinsAG (n.5834-2_5834-1delinsAG)
c.5645-2_5645-1delinsAG (n.5645-2_5645-1delinsAG)
c.4049-2_4049-1delinsAG (n.4049-2_4049-1delinsAG)
n.6185-2_6185-1delinsAG
6g.51934324delCA658822585PKHD1c.5909-2del (n.5909-2del)
c.5267-2del (n.5267-2del)
c.5198-2del (n.5198-2del)
c.-17-2del (n.-17-2del)
c.5834-2del (n.5834-2del)
c.5645-2del (n.5645-2del)
c.4049-2del (n.4049-2del)
n.6185-2del
 ClinVar dbSNP gnomAD v4
6g.51934324T>ACA364418015PKHD1c.5909-2A>T (n.5909-2A>T)
c.5267-2A>T (n.5267-2A>T)
c.5198-2A>T (n.5198-2A>T)
c.-17-2A>T (n.-17-2A>T)
c.5834-2A>T (n.5834-2A>T)
c.5645-2A>T (n.5645-2A>T)
c.4049-2A>T (n.4049-2A>T)
n.6185-2A>T
6g.51934324T>CCA364418016PKHD1c.5909-2A>G (n.5909-2A>G)
c.5267-2A>G (n.5267-2A>G)
c.5198-2A>G (n.5198-2A>G)
c.-17-2A>G (n.-17-2A>G)
c.5834-2A>G (n.5834-2A>G)
c.5645-2A>G (n.5645-2A>G)
c.4049-2A>G (n.4049-2A>G)
n.6185-2A>G
6g.51934324T>GCA364418017PKHD1c.5909-2A>C (n.5909-2A>C)
c.5267-2A>C (n.5267-2A>C)
c.5198-2A>C (n.5198-2A>C)
c.-17-2A>C (n.-17-2A>C)
c.5834-2A>C (n.5834-2A>C)
c.5645-2A>C (n.5645-2A>C)
c.4049-2A>C (n.4049-2A>C)
n.6185-2A>C
6g.51934327T>ACA1628551249PKHD1c.5909-5A>T (n.5909-5A>T)
c.5267-5A>T (n.5267-5A>T)
c.5198-5A>T (n.5198-5A>T)
c.-17-5A>T (n.-17-5A>T)
c.5834-5A>T (n.5834-5A>T)
c.5645-5A>T (n.5645-5A>T)
c.4049-5A>T (n.4049-5A>T)
n.6185-5A>T
 dbSNP
6g.51934327T>CCA2499218361PKHD1c.5909-5A>G (n.5909-5A>G)
c.5267-5A>G (n.5267-5A>G)
c.5198-5A>G (n.5198-5A>G)
c.-17-5A>G (n.-17-5A>G)
c.5834-5A>G (n.5834-5A>G)
c.5645-5A>G (n.5645-5A>G)
c.4049-5A>G (n.4049-5A>G)
n.6185-5A>G
 ClinVar dbSNP
6g.51934327T=CA1628551248PKHD1c.5909-5A= (n.5909-5A=)
c.5267-5A= (n.5267-5A=)
c.5198-5A= (n.5198-5A=)
c.-17-5A= (n.-17-5A=)
c.5834-5A= (n.5834-5A=)
c.5645-5A= (n.5645-5A=)
c.4049-5A= (n.4049-5A=)
n.6185-5A=
6g.51934329G>ACA2573140947PKHD1c.5909-7C>T (n.5909-7C>T)
c.5267-7C>T (n.5267-7C>T)
c.5198-7C>T (n.5198-7C>T)
c.-17-7C>T (n.-17-7C>T)
c.5834-7C>T (n.5834-7C>T)
c.5645-7C>T (n.5645-7C>T)
c.4049-7C>T (n.4049-7C>T)
n.6185-7C>T
 ClinVar dbSNP
6g.51934329G>CCA2578645253PKHD1c.5909-7C>G (n.5909-7C>G)
c.5267-7C>G (n.5267-7C>G)
c.5198-7C>G (n.5198-7C>G)
c.-17-7C>G (n.-17-7C>G)
c.5834-7C>G (n.5834-7C>G)
c.5645-7C>G (n.5645-7C>G)
c.4049-7C>G (n.4049-7C>G)
n.6185-7C>G
6g.51934329G>TCA2679084511PKHD1c.5909-7C>A (n.5909-7C>A)
c.5267-7C>A (n.5267-7C>A)
c.5198-7C>A (n.5198-7C>A)
c.-17-7C>A (n.-17-7C>A)
c.5834-7C>A (n.5834-7C>A)
c.5645-7C>A (n.5645-7C>A)
c.4049-7C>A (n.4049-7C>A)
n.6185-7C>A
 gnomAD v4
6g.51934331C=CA1628551251PKHD1c.5909-9G= (n.5909-9G=)
c.5267-9G= (n.5267-9G=)
c.5198-9G= (n.5198-9G=)
c.-17-9G= (n.-17-9G=)
c.5834-9G= (n.5834-9G=)
c.5645-9G= (n.5645-9G=)
c.4049-9G= (n.4049-9G=)
n.6185-9G=
6g.51934331C>GCA567636129PKHD1c.5909-9G>C (n.5909-9G>C)
c.5267-9G>C (n.5267-9G>C)
c.5198-9G>C (n.5198-9G>C)
c.-17-9G>C (n.-17-9G>C)
c.5834-9G>C (n.5834-9G>C)
c.5645-9G>C (n.5645-9G>C)
c.4049-9G>C (n.4049-9G>C)
n.6185-9G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51934331C>TCA2679084512PKHD1c.5909-9G>A (n.5909-9G>A)
c.5267-9G>A (n.5267-9G>A)
c.5198-9G>A (n.5198-9G>A)
c.-17-9G>A (n.-17-9G>A)
c.5834-9G>A (n.5834-9G>A)
c.5645-9G>A (n.5645-9G>A)
c.4049-9G>A (n.4049-9G>A)
n.6185-9G>A
 gnomAD v4
6g.51934334delCA2679084513PKHD1c.5909-10del (n.5909-10del)
c.5267-10del (n.5267-10del)
c.5198-10del (n.5198-10del)
c.-17-10del (n.-17-10del)
c.5834-10del (n.5834-10del)
c.5645-10del (n.5645-10del)
c.4049-10del (n.4049-10del)
n.6185-10del
 gnomAD v4
6g.51934333A=CA1628551253PKHD1c.5909-11T= (n.5909-11T=)
c.5267-11T= (n.5267-11T=)
c.5198-11T= (n.5198-11T=)
c.-17-11T= (n.-17-11T=)
c.5834-11T= (n.5834-11T=)
c.5645-11T= (n.5645-11T=)
c.4049-11T= (n.4049-11T=)
n.6185-11T=
6g.51934333A>GCA3852381PKHD1c.5909-11T>C (n.5909-11T>C)
c.5267-11T>C (n.5267-11T>C)
c.5198-11T>C (n.5198-11T>C)
c.-17-11T>C (n.-17-11T>C)
c.5834-11T>C (n.5834-11T>C)
c.5645-11T>C (n.5645-11T>C)
c.4049-11T>C (n.4049-11T>C)
n.6185-11T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51934334A=CA1628551255PKHD1c.5909-12T= (n.5909-12T=)
c.5267-12T= (n.5267-12T=)
c.5198-12T= (n.5198-12T=)
c.-17-12T= (n.-17-12T=)
c.5834-12T= (n.5834-12T=)
c.5645-12T= (n.5645-12T=)
c.4049-12T= (n.4049-12T=)
n.6185-12T=
6g.51934334A>GCA2679084514PKHD1c.5909-12T>C (n.5909-12T>C)
c.5267-12T>C (n.5267-12T>C)
c.5198-12T>C (n.5198-12T>C)
c.-17-12T>C (n.-17-12T>C)
c.5834-12T>C (n.5834-12T>C)
c.5645-12T>C (n.5645-12T>C)
c.4049-12T>C (n.4049-12T>C)
n.6185-12T>C
 gnomAD v4
6g.51934334A>TCA825724298PKHD1c.5909-12T>A (n.5909-12T>A)
c.5267-12T>A (n.5267-12T>A)
c.5198-12T>A (n.5198-12T>A)
c.-17-12T>A (n.-17-12T>A)
c.5834-12T>A (n.5834-12T>A)
c.5645-12T>A (n.5645-12T>A)
c.4049-12T>A (n.4049-12T>A)
n.6185-12T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51934335G>ACA2679084516PKHD1c.5909-13C>T (n.5909-13C>T)
c.5267-13C>T (n.5267-13C>T)
c.5198-13C>T (n.5198-13C>T)
c.-17-13C>T (n.-17-13C>T)
c.5834-13C>T (n.5834-13C>T)
c.5645-13C>T (n.5645-13C>T)
c.4049-13C>T (n.4049-13C>T)
n.6185-13C>T
 gnomAD v4
6g.51934335G>CCA2679084517PKHD1c.5909-13C>G (n.5909-13C>G)
c.5267-13C>G (n.5267-13C>G)
c.5198-13C>G (n.5198-13C>G)
c.-17-13C>G (n.-17-13C>G)
c.5834-13C>G (n.5834-13C>G)
c.5645-13C>G (n.5645-13C>G)
c.4049-13C>G (n.4049-13C>G)
n.6185-13C>G
 gnomAD v4
6g.51934335G>TCA2679084515PKHD1c.5909-13C>A (n.5909-13C>A)
c.5267-13C>A (n.5267-13C>A)
c.5198-13C>A (n.5198-13C>A)
c.-17-13C>A (n.-17-13C>A)
c.5834-13C>A (n.5834-13C>A)
c.5645-13C>A (n.5645-13C>A)
c.4049-13C>A (n.4049-13C>A)
n.6185-13C>A
 gnomAD v4
6g.51934336G>ACA1628551258PKHD1c.5909-14C>T (n.5909-14C>T)
c.5267-14C>T (n.5267-14C>T)
c.5198-14C>T (n.5198-14C>T)
c.-17-14C>T (n.-17-14C>T)
c.5834-14C>T (n.5834-14C>T)
c.5645-14C>T (n.5645-14C>T)
c.4049-14C>T (n.4049-14C>T)
n.6185-14C>T
 dbSNP gnomAD v4
6g.51934336G=CA1628551257PKHD1c.5909-14C= (n.5909-14C=)
c.5267-14C= (n.5267-14C=)
c.5198-14C= (n.5198-14C=)
c.-17-14C= (n.-17-14C=)
c.5834-14C= (n.5834-14C=)
c.5645-14C= (n.5645-14C=)
c.4049-14C= (n.4049-14C=)
n.6185-14C=
6g.51934336G>TCA2679084518PKHD1c.5909-14C>A (n.5909-14C>A)
c.5267-14C>A (n.5267-14C>A)
c.5198-14C>A (n.5198-14C>A)
c.-17-14C>A (n.-17-14C>A)
c.5834-14C>A (n.5834-14C>A)
c.5645-14C>A (n.5645-14C>A)
c.4049-14C>A (n.4049-14C>A)
n.6185-14C>A
 gnomAD v4

Number of alleles fetched