Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51959884A>CCA364421271PKHD1c.5894T>G (p.Leu1965Ter)
c.5252T>G (p.Leu1751Ter)
c.5183T>G (p.Leu1728Ter)
c.-17-25562T>G (n.-17-25562T>G)
c.5819T>G (p.Leu1940Ter)
c.5630T>G (p.Leu1877Ter)
c.4034T>G (p.Leu1345Ter)
n.6170T>G
6g.51959884A>GCA364421272PKHD1c.5894T>C (p.Leu1965Ser)
c.5252T>C (p.Leu1751Ser)
c.5183T>C (p.Leu1728Ser)
c.-17-25562T>C (n.-17-25562T>C)
c.5819T>C (p.Leu1940Ser)
c.5630T>C (p.Leu1877Ser)
c.4034T>C (p.Leu1345Ser)
n.6170T>C
6g.51959884A>TCA364421274PKHD1c.5894T>A (p.Leu1965Ter)
c.5252T>A (p.Leu1751Ter)
c.5183T>A (p.Leu1728Ter)
c.-17-25562T>A (n.-17-25562T>A)
c.5819T>A (p.Leu1940Ter)
c.5630T>A (p.Leu1877Ter)
c.4034T>A (p.Leu1345Ter)
n.6170T>A
6g.51959885A=CA1628607980PKHD1c.5893T= (p.Leu1965=)
c.5251T= (p.Leu1751=)
c.5182T= (p.Leu1728=)
c.-17-25563T= (n.-17-25563T=)
c.5818T= (p.Leu1940=)
c.5629T= (p.Leu1877=)
c.4033T= (p.Leu1345=)
n.6169T=
6g.51959885A>CCA364421275PKHD1c.5893T>G (p.Leu1965Val)
c.5251T>G (p.Leu1751Val)
c.5182T>G (p.Leu1728Val)
c.-17-25563T>G (n.-17-25563T>G)
c.5818T>G (p.Leu1940Val)
c.5629T>G (p.Leu1877Val)
c.4033T>G (p.Leu1345Val)
n.6169T>G
6g.51959885A>GCA450416376PKHD1c.5893T>C (p.Leu1965=)
c.5251T>C (p.Leu1751=)
c.5182T>C (p.Leu1728=)
c.-17-25563T>C (n.-17-25563T>C)
c.5818T>C (p.Leu1940=)
c.5629T>C (p.Leu1877=)
c.4033T>C (p.Leu1345=)
n.6169T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51959885A>TCA364421276PKHD1c.5893T>A (p.Leu1965Ile)
c.5251T>A (p.Leu1751Ile)
c.5182T>A (p.Leu1728Ile)
c.-17-25563T>A (n.-17-25563T>A)
c.5818T>A (p.Leu1940Ile)
c.5629T>A (p.Leu1877Ile)
c.4033T>A (p.Leu1345Ile)
n.6169T>A
6g.51959886G>ACA450416377PKHD1c.5892C>T (p.Asn1964=)
c.5250C>T (p.Asn1750=)
c.5181C>T (p.Asn1727=)
c.-17-25564C>T (n.-17-25564C>T)
c.5817C>T (p.Asn1939=)
c.5628C>T (p.Asn1876=)
c.4032C>T (p.Asn1344=)
n.6168C>T
6g.51959886G>CCA364421278PKHD1c.5892C>G (p.Asn1964Lys)
c.5250C>G (p.Asn1750Lys)
c.5181C>G (p.Asn1727Lys)
c.-17-25564C>G (n.-17-25564C>G)
c.5817C>G (p.Asn1939Lys)
c.5628C>G (p.Asn1876Lys)
c.4032C>G (p.Asn1344Lys)
n.6168C>G
6g.51959886G>TCA364421279PKHD1c.5892C>A (p.Asn1964Lys)
c.5250C>A (p.Asn1750Lys)
c.5181C>A (p.Asn1727Lys)
c.-17-25564C>A (n.-17-25564C>A)
c.5817C>A (p.Asn1939Lys)
c.5628C>A (p.Asn1876Lys)
c.4032C>A (p.Asn1344Lys)
n.6168C>A
6g.51959887T>ACA364421282PKHD1c.5891A>T (p.Asn1964Ile)
c.5249A>T (p.Asn1750Ile)
c.5180A>T (p.Asn1727Ile)
c.-17-25565A>T (n.-17-25565A>T)
c.5816A>T (p.Asn1939Ile)
c.5627A>T (p.Asn1876Ile)
c.4031A>T (p.Asn1344Ile)
n.6167A>T
6g.51959887T>CCA364421284PKHD1c.5891A>G (p.Asn1964Ser)
c.5249A>G (p.Asn1750Ser)
c.5180A>G (p.Asn1727Ser)
c.-17-25565A>G (n.-17-25565A>G)
c.5816A>G (p.Asn1939Ser)
c.5627A>G (p.Asn1876Ser)
c.4031A>G (p.Asn1344Ser)
n.6167A>G
6g.51959887T>GCA364421283PKHD1c.5891A>C (p.Asn1964Thr)
c.5249A>C (p.Asn1750Thr)
c.5180A>C (p.Asn1727Thr)
c.-17-25565A>C (n.-17-25565A>C)
c.5816A>C (p.Asn1939Thr)
c.5627A>C (p.Asn1876Thr)
c.4031A>C (p.Asn1344Thr)
n.6167A>C
6g.51959888T>ACA364421286PKHD1c.5890A>T (p.Asn1964Tyr)
c.5248A>T (p.Asn1750Tyr)
c.5179A>T (p.Asn1727Tyr)
c.-17-25566A>T (n.-17-25566A>T)
c.5815A>T (p.Asn1939Tyr)
c.5626A>T (p.Asn1876Tyr)
c.4030A>T (p.Asn1344Tyr)
n.6166A>T
6g.51959888T>CCA364421287PKHD1c.5890A>G (p.Asn1964Asp)
c.5248A>G (p.Asn1750Asp)
c.5179A>G (p.Asn1727Asp)
c.-17-25566A>G (n.-17-25566A>G)
c.5815A>G (p.Asn1939Asp)
c.5626A>G (p.Asn1876Asp)
c.4030A>G (p.Asn1344Asp)
n.6166A>G
6g.51959888T>GCA364421288PKHD1c.5890A>C (p.Asn1964His)
c.5248A>C (p.Asn1750His)
c.5179A>C (p.Asn1727His)
c.-17-25566A>C (n.-17-25566A>C)
c.5815A>C (p.Asn1939His)
c.5626A>C (p.Asn1876His)
c.4030A>C (p.Asn1344His)
n.6166A>C
6g.51959889G>ACA450416380PKHD1c.5889C>T (p.Leu1963=)
c.5247C>T (p.Leu1749=)
c.5178C>T (p.Leu1726=)
c.-17-25567C>T (n.-17-25567C>T)
c.5814C>T (p.Leu1938=)
c.5625C>T (p.Leu1875=)
c.4029C>T (p.Leu1343=)
n.6165C>T
 ClinVar dbSNP
6g.51959889G>CCA450416378PKHD1c.5889C>G (p.Leu1963=)
c.5247C>G (p.Leu1749=)
c.5178C>G (p.Leu1726=)
c.-17-25567C>G (n.-17-25567C>G)
c.5814C>G (p.Leu1938=)
c.5625C>G (p.Leu1875=)
c.4029C>G (p.Leu1343=)
n.6165C>G
6g.51959889G>TCA450416379PKHD1c.5889C>A (p.Leu1963=)
c.5247C>A (p.Leu1749=)
c.5178C>A (p.Leu1726=)
c.-17-25567C>A (n.-17-25567C>A)
c.5814C>A (p.Leu1938=)
c.5625C>A (p.Leu1875=)
c.4029C>A (p.Leu1343=)
n.6165C>A
6g.51959890A>CCA364421290PKHD1c.5888T>G (p.Leu1963Arg)
c.5246T>G (p.Leu1749Arg)
c.5177T>G (p.Leu1726Arg)
c.-17-25568T>G (n.-17-25568T>G)
c.5813T>G (p.Leu1938Arg)
c.5624T>G (p.Leu1875Arg)
c.4028T>G (p.Leu1343Arg)
n.6164T>G
6g.51959890A>GCA364421291PKHD1c.5888T>C (p.Leu1963Pro)
c.5246T>C (p.Leu1749Pro)
c.5177T>C (p.Leu1726Pro)
c.-17-25568T>C (n.-17-25568T>C)
c.5813T>C (p.Leu1938Pro)
c.5624T>C (p.Leu1875Pro)
c.4028T>C (p.Leu1343Pro)
n.6164T>C
6g.51959890A>TCA364421293PKHD1c.5888T>A (p.Leu1963His)
c.5246T>A (p.Leu1749His)
c.5177T>A (p.Leu1726His)
c.-17-25568T>A (n.-17-25568T>A)
c.5813T>A (p.Leu1938His)
c.5624T>A (p.Leu1875His)
c.4028T>A (p.Leu1343His)
n.6164T>A
6g.51959891G>ACA364421295PKHD1c.5887C>T (p.Leu1963Phe)
c.5245C>T (p.Leu1749Phe)
c.5176C>T (p.Leu1726Phe)
c.-17-25569C>T (n.-17-25569C>T)
c.5812C>T (p.Leu1938Phe)
c.5623C>T (p.Leu1875Phe)
c.4027C>T (p.Leu1343Phe)
n.6163C>T
6g.51959891G>CCA364421296PKHD1c.5887C>G (p.Leu1963Val)
c.5245C>G (p.Leu1749Val)
c.5176C>G (p.Leu1726Val)
c.-17-25569C>G (n.-17-25569C>G)
c.5812C>G (p.Leu1938Val)
c.5623C>G (p.Leu1875Val)
c.4027C>G (p.Leu1343Val)
n.6163C>G
6g.51959891G>TCA364421298PKHD1c.5887C>A (p.Leu1963Ile)
c.5245C>A (p.Leu1749Ile)
c.5176C>A (p.Leu1726Ile)
c.-17-25569C>A (n.-17-25569C>A)
c.5812C>A (p.Leu1938Ile)
c.5623C>A (p.Leu1875Ile)
c.4027C>A (p.Leu1343Ile)
n.6163C>A
6g.51959892G>ACA450416381PKHD1c.5886C>T (p.Ile1962=)
c.5244C>T (p.Ile1748=)
c.5175C>T (p.Ile1725=)
c.-17-25570C>T (n.-17-25570C>T)
c.5811C>T (p.Ile1937=)
c.5622C>T (p.Ile1874=)
c.4026C>T (p.Ile1342=)
n.6162C>T
 ClinVar gnomAD v4
6g.51959892G>CCA364421300PKHD1c.5886C>G (p.Ile1962Met)
c.5244C>G (p.Ile1748Met)
c.5175C>G (p.Ile1725Met)
c.-17-25570C>G (n.-17-25570C>G)
c.5811C>G (p.Ile1937Met)
c.5622C>G (p.Ile1874Met)
c.4026C>G (p.Ile1342Met)
n.6162C>G
6g.51959892G>TCA450416382PKHD1c.5886C>A (p.Ile1962=)
c.5244C>A (p.Ile1748=)
c.5175C>A (p.Ile1725=)
c.-17-25570C>A (n.-17-25570C>A)
c.5811C>A (p.Ile1937=)
c.5622C>A (p.Ile1874=)
c.4026C>A (p.Ile1342=)
n.6162C>A
 dbSNP
6g.51959893A=CA1628607985PKHD1c.5885T= (p.Ile1962=)
c.5243T= (p.Ile1748=)
c.5174T= (p.Ile1725=)
c.-17-25571T= (n.-17-25571T=)
c.5810T= (p.Ile1937=)
c.5621T= (p.Ile1874=)
c.4025T= (p.Ile1342=)
n.6161T=
6g.51959893A>CCA364421302PKHD1c.5885T>G (p.Ile1962Ser)
c.5243T>G (p.Ile1748Ser)
c.5174T>G (p.Ile1725Ser)
c.-17-25571T>G (n.-17-25571T>G)
c.5810T>G (p.Ile1937Ser)
c.5621T>G (p.Ile1874Ser)
c.4025T>G (p.Ile1342Ser)
n.6161T>G
 ClinVar dbSNP gnomAD v4
6g.51959893A>GCA364421304PKHD1c.5885T>C (p.Ile1962Thr)
c.5243T>C (p.Ile1748Thr)
c.5174T>C (p.Ile1725Thr)
c.-17-25571T>C (n.-17-25571T>C)
c.5810T>C (p.Ile1937Thr)
c.5621T>C (p.Ile1874Thr)
c.4025T>C (p.Ile1342Thr)
n.6161T>C
6g.51959893A>TCA3852405PKHD1c.5885T>A (p.Ile1962Asn)
c.5243T>A (p.Ile1748Asn)
c.5174T>A (p.Ile1725Asn)
c.-17-25571T>A (n.-17-25571T>A)
c.5810T>A (p.Ile1937Asn)
c.5621T>A (p.Ile1874Asn)
c.4025T>A (p.Ile1342Asn)
n.6161T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51959894T>ACA364421306PKHD1c.5884A>T (p.Ile1962Phe)
c.5242A>T (p.Ile1748Phe)
c.5173A>T (p.Ile1725Phe)
c.-17-25572A>T (n.-17-25572A>T)
c.5809A>T (p.Ile1937Phe)
c.5620A>T (p.Ile1874Phe)
c.4024A>T (p.Ile1342Phe)
n.6160A>T
6g.51959894T>CCA364421309PKHD1c.5884A>G (p.Ile1962Val)
c.5242A>G (p.Ile1748Val)
c.5173A>G (p.Ile1725Val)
c.-17-25572A>G (n.-17-25572A>G)
c.5809A>G (p.Ile1937Val)
c.5620A>G (p.Ile1874Val)
c.4024A>G (p.Ile1342Val)
n.6160A>G
6g.51959894T>GCA364421308PKHD1c.5884A>C (p.Ile1962Leu)
c.5242A>C (p.Ile1748Leu)
c.5173A>C (p.Ile1725Leu)
c.-17-25572A>C (n.-17-25572A>C)
c.5809A>C (p.Ile1937Leu)
c.5620A>C (p.Ile1874Leu)
c.4024A>C (p.Ile1342Leu)
n.6160A>C
6g.51959895G>ACA450416383PKHD1c.5883C>T (p.Ser1961=)
c.5241C>T (p.Ser1747=)
c.5172C>T (p.Ser1724=)
c.-17-25573C>T (n.-17-25573C>T)
c.5808C>T (p.Ser1936=)
c.5619C>T (p.Ser1873=)
c.4023C>T (p.Ser1341=)
n.6159C>T
 gnomAD v4
6g.51959895G>CCA364421310PKHD1c.5883C>G (p.Ser1961Arg)
c.5241C>G (p.Ser1747Arg)
c.5172C>G (p.Ser1724Arg)
c.-17-25573C>G (n.-17-25573C>G)
c.5808C>G (p.Ser1936Arg)
c.5619C>G (p.Ser1873Arg)
c.4023C>G (p.Ser1341Arg)
n.6159C>G
6g.51959895G>TCA364421311PKHD1c.5883C>A (p.Ser1961Arg)
c.5241C>A (p.Ser1747Arg)
c.5172C>A (p.Ser1724Arg)
c.-17-25573C>A (n.-17-25573C>A)
c.5808C>A (p.Ser1936Arg)
c.5619C>A (p.Ser1873Arg)
c.4023C>A (p.Ser1341Arg)
n.6159C>A
6g.51959896C>ACA364421313PKHD1c.5882G>T (p.Ser1961Ile)
c.5240G>T (p.Ser1747Ile)
c.5171G>T (p.Ser1724Ile)
c.-17-25574G>T (n.-17-25574G>T)
c.5807G>T (p.Ser1936Ile)
c.5618G>T (p.Ser1873Ile)
c.4022G>T (p.Ser1341Ile)
n.6158G>T
 COSMIC
6g.51959896C=CA1628607997PKHD1c.5882G= (p.Ser1961=)
c.5240G= (p.Ser1747=)
c.5171G= (p.Ser1724=)
c.-17-25574G= (n.-17-25574G=)
c.5807G= (p.Ser1936=)
c.5618G= (p.Ser1873=)
c.4022G= (p.Ser1341=)
n.6158G=
6g.51959896C>GCA364421316PKHD1c.5882G>C (p.Ser1961Thr)
c.5240G>C (p.Ser1747Thr)
c.5171G>C (p.Ser1724Thr)
c.-17-25574G>C (n.-17-25574G>C)
c.5807G>C (p.Ser1936Thr)
c.5618G>C (p.Ser1873Thr)
c.4022G>C (p.Ser1341Thr)
n.6158G>C
 dbSNP gnomAD v3 gnomAD v4
6g.51959896C>TCA364421315PKHD1c.5882G>A (p.Ser1961Asn)
c.5240G>A (p.Ser1747Asn)
c.5171G>A (p.Ser1724Asn)
c.-17-25574G>A (n.-17-25574G>A)
c.5807G>A (p.Ser1936Asn)
c.5618G>A (p.Ser1873Asn)
c.4022G>A (p.Ser1341Asn)
n.6158G>A
6g.51959897T>ACA364421318PKHD1c.5881A>T (p.Ser1961Cys)
c.5239A>T (p.Ser1747Cys)
c.5170A>T (p.Ser1724Cys)
c.-17-25575A>T (n.-17-25575A>T)
c.5806A>T (p.Ser1936Cys)
c.5617A>T (p.Ser1873Cys)
c.4021A>T (p.Ser1341Cys)
n.6157A>T
6g.51959897T>CCA364421320PKHD1c.5881A>G (p.Ser1961Gly)
c.5239A>G (p.Ser1747Gly)
c.5170A>G (p.Ser1724Gly)
c.-17-25575A>G (n.-17-25575A>G)
c.5806A>G (p.Ser1936Gly)
c.5617A>G (p.Ser1873Gly)
c.4021A>G (p.Ser1341Gly)
n.6157A>G
6g.51959897T>GCA364421322PKHD1c.5881A>C (p.Ser1961Arg)
c.5239A>C (p.Ser1747Arg)
c.5170A>C (p.Ser1724Arg)
c.-17-25575A>C (n.-17-25575A>C)
c.5806A>C (p.Ser1936Arg)
c.5617A>C (p.Ser1873Arg)
c.4021A>C (p.Ser1341Arg)
n.6157A>C
6g.51959897_51959899delinsTTGCA1628608002PKHD1c.5879_5881delinsCAA (p.Thr1960=)
c.5237_5239delinsCAA (p.Thr1746=)
c.5168_5170delinsCAA (p.Thr1723=)
c.-17-25577_-17-25575delinsCAA (n.-17-25577_-17-25575delinsCAA)
c.5804_5806delinsCAA (p.Thr1935=)
c.5615_5617delinsCAA (p.Thr1872=)
c.4019_4021delinsCAA (p.Thr1340=)
n.6155_6157delinsCAA
6g.51959898T>ACA450416384PKHD1c.5880A>T (p.Thr1960=)
c.5238A>T (p.Thr1746=)
c.5169A>T (p.Thr1723=)
c.-17-25576A>T (n.-17-25576A>T)
c.5805A>T (p.Thr1935=)
c.5616A>T (p.Thr1872=)
c.4020A>T (p.Thr1340=)
n.6156A>T
6g.51959898T>CCA450416385PKHD1c.5880A>G (p.Thr1960=)
c.5238A>G (p.Thr1746=)
c.5169A>G (p.Thr1723=)
c.-17-25576A>G (n.-17-25576A>G)
c.5805A>G (p.Thr1935=)
c.5616A>G (p.Thr1872=)
c.4020A>G (p.Thr1340=)
n.6156A>G
 gnomAD v4
6g.51959898T>GCA450416386PKHD1c.5880A>C (p.Thr1960=)
c.5238A>C (p.Thr1746=)
c.5169A>C (p.Thr1723=)
c.-17-25576A>C (n.-17-25576A>C)
c.5805A>C (p.Thr1935=)
c.5616A>C (p.Thr1872=)
c.4020A>C (p.Thr1340=)
n.6156A>C
 dbSNP
6g.51959898T=CA1628608012PKHD1c.5880A= (p.Thr1960=)
c.5238A= (p.Thr1746=)
c.5169A= (p.Thr1723=)
c.-17-25576A= (n.-17-25576A=)
c.5805A= (p.Thr1935=)
c.5616A= (p.Thr1872=)
c.4020A= (p.Thr1340=)
n.6156A=

Number of alleles fetched