Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=
6g.51959901_51959902delCA275229PKHD1c.5879_5880del (p.Thr1960LysfsTer9)
c.5237_5238del (p.Thr1746LysfsTer9)
c.5168_5169del (p.Thr1723LysfsTer9)
c.-17-25577_-17-25576del (n.-17-25577_-17-25576del)
c.5804_5805del (p.Thr1935LysfsTer9)
c.5615_5616del (p.Thr1872LysfsTer9)
c.4019_4020del (p.Thr1340LysfsTer9)
n.6155_6156del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51959899G>ACA364421324PKHD1c.5879C>T (p.Thr1960Ile)
c.5237C>T (p.Thr1746Ile)
c.5168C>T (p.Thr1723Ile)
c.-17-25577C>T (n.-17-25577C>T)
c.5804C>T (p.Thr1935Ile)
c.5615C>T (p.Thr1872Ile)
c.4019C>T (p.Thr1340Ile)
n.6155C>T
6g.51959899G>CCA364421326PKHD1c.5879C>G (p.Thr1960Arg)
c.5237C>G (p.Thr1746Arg)
c.5168C>G (p.Thr1723Arg)
c.-17-25577C>G (n.-17-25577C>G)
c.5804C>G (p.Thr1935Arg)
c.5615C>G (p.Thr1872Arg)
c.4019C>G (p.Thr1340Arg)
n.6155C>G
 ClinVar dbSNP gnomAD v2
6g.51959899G=CA1628608020PKHD1c.5879C= (p.Thr1960=)
c.5237C= (p.Thr1746=)
c.5168C= (p.Thr1723=)
c.-17-25577C= (n.-17-25577C=)
c.5804C= (p.Thr1935=)
c.5615C= (p.Thr1872=)
c.4019C= (p.Thr1340=)
n.6155C=
6g.51959899G>TCA3852406PKHD1c.5879C>A (p.Thr1960Lys)
c.5237C>A (p.Thr1746Lys)
c.5168C>A (p.Thr1723Lys)
c.-17-25577C>A (n.-17-25577C>A)
c.5804C>A (p.Thr1935Lys)
c.5615C>A (p.Thr1872Lys)
c.4019C>A (p.Thr1340Lys)
n.6155C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51959900T>ACA364421332PKHD1c.5878A>T (p.Thr1960Ser)
c.5236A>T (p.Thr1746Ser)
c.5167A>T (p.Thr1723Ser)
c.-17-25578A>T (n.-17-25578A>T)
c.5803A>T (p.Thr1935Ser)
c.5614A>T (p.Thr1872Ser)
c.4018A>T (p.Thr1340Ser)
n.6154A>T
6g.51959900T>CCA364421329PKHD1c.5878A>G (p.Thr1960Ala)
c.5236A>G (p.Thr1746Ala)
c.5167A>G (p.Thr1723Ala)
c.-17-25578A>G (n.-17-25578A>G)
c.5803A>G (p.Thr1935Ala)
c.5614A>G (p.Thr1872Ala)
c.4018A>G (p.Thr1340Ala)
n.6154A>G
6g.51959900T>GCA364421330PKHD1c.5878A>C (p.Thr1960Pro)
c.5236A>C (p.Thr1746Pro)
c.5167A>C (p.Thr1723Pro)
c.-17-25578A>C (n.-17-25578A>C)
c.5803A>C (p.Thr1935Pro)
c.5614A>C (p.Thr1872Pro)
c.4018A>C (p.Thr1340Pro)
n.6154A>C
6g.51959901G>ACA138922751PKHD1c.5877C>T (p.Asn1959=)
c.5235C>T (p.Asn1745=)
c.5166C>T (p.Asn1722=)
c.-17-25579C>T (n.-17-25579C>T)
c.5802C>T (p.Asn1934=)
c.5613C>T (p.Asn1871=)
c.4017C>T (p.Asn1339=)
n.6153C>T
 ClinVar dbSNP gnomAD v4
6g.51959901G>CCA364421334PKHD1c.5877C>G (p.Asn1959Lys)
c.5235C>G (p.Asn1745Lys)
c.5166C>G (p.Asn1722Lys)
c.-17-25579C>G (n.-17-25579C>G)
c.5802C>G (p.Asn1934Lys)
c.5613C>G (p.Asn1871Lys)
c.4017C>G (p.Asn1339Lys)
n.6153C>G
6g.51959901G=CA1628608024PKHD1c.5877C= (p.Asn1959=)
c.5235C= (p.Asn1745=)
c.5166C= (p.Asn1722=)
c.-17-25579C= (n.-17-25579C=)
c.5802C= (p.Asn1934=)
c.5613C= (p.Asn1871=)
c.4017C= (p.Asn1339=)
n.6153C=
6g.51959901G>TCA364421335PKHD1c.5877C>A (p.Asn1959Lys)
c.5235C>A (p.Asn1745Lys)
c.5166C>A (p.Asn1722Lys)
c.-17-25579C>A (n.-17-25579C>A)
c.5802C>A (p.Asn1934Lys)
c.5613C>A (p.Asn1871Lys)
c.4017C>A (p.Asn1339Lys)
n.6153C>A
6g.51959902T>ACA364421338PKHD1c.5876A>T (p.Asn1959Ile)
c.5234A>T (p.Asn1745Ile)
c.5165A>T (p.Asn1722Ile)
c.-17-25580A>T (n.-17-25580A>T)
c.5801A>T (p.Asn1934Ile)
c.5612A>T (p.Asn1871Ile)
c.4016A>T (p.Asn1339Ile)
n.6152A>T
6g.51959902T>CCA364421340PKHD1c.5876A>G (p.Asn1959Ser)
c.5234A>G (p.Asn1745Ser)
c.5165A>G (p.Asn1722Ser)
c.-17-25580A>G (n.-17-25580A>G)
c.5801A>G (p.Asn1934Ser)
c.5612A>G (p.Asn1871Ser)
c.4016A>G (p.Asn1339Ser)
n.6152A>G
 COSMIC
6g.51959902T>GCA364421341PKHD1c.5876A>C (p.Asn1959Thr)
c.5234A>C (p.Asn1745Thr)
c.5165A>C (p.Asn1722Thr)
c.-17-25580A>C (n.-17-25580A>C)
c.5801A>C (p.Asn1934Thr)
c.5612A>C (p.Asn1871Thr)
c.4016A>C (p.Asn1339Thr)
n.6152A>C
6g.51959903T>ACA364421343PKHD1c.5875A>T (p.Asn1959Tyr)
c.5233A>T (p.Asn1745Tyr)
c.5164A>T (p.Asn1722Tyr)
c.-17-25581A>T (n.-17-25581A>T)
c.5800A>T (p.Asn1934Tyr)
c.5611A>T (p.Asn1871Tyr)
c.4015A>T (p.Asn1339Tyr)
n.6151A>T
6g.51959903T>CCA364421347PKHD1c.5875A>G (p.Asn1959Asp)
c.5233A>G (p.Asn1745Asp)
c.5164A>G (p.Asn1722Asp)
c.-17-25581A>G (n.-17-25581A>G)
c.5800A>G (p.Asn1934Asp)
c.5611A>G (p.Asn1871Asp)
c.4015A>G (p.Asn1339Asp)
n.6151A>G
6g.51959903T>GCA364421345PKHD1c.5875A>C (p.Asn1959His)
c.5233A>C (p.Asn1745His)
c.5164A>C (p.Asn1722His)
c.-17-25581A>C (n.-17-25581A>C)
c.5800A>C (p.Asn1934His)
c.5611A>C (p.Asn1871His)
c.4015A>C (p.Asn1339His)
n.6151A>C
6g.51959904A>CCA450416389PKHD1c.5874T>G (p.Thr1958=)
c.5232T>G (p.Thr1744=)
c.5163T>G (p.Thr1721=)
c.-17-25582T>G (n.-17-25582T>G)
c.5799T>G (p.Thr1933=)
c.5610T>G (p.Thr1870=)
c.4014T>G (p.Thr1338=)
n.6150T>G
6g.51959904A>GCA450416388PKHD1c.5874T>C (p.Thr1958=)
c.5232T>C (p.Thr1744=)
c.5163T>C (p.Thr1721=)
c.-17-25582T>C (n.-17-25582T>C)
c.5799T>C (p.Thr1933=)
c.5610T>C (p.Thr1870=)
c.4014T>C (p.Thr1338=)
n.6150T>C
 gnomAD v4
6g.51959904A>TCA450416387PKHD1c.5874T>A (p.Thr1958=)
c.5232T>A (p.Thr1744=)
c.5163T>A (p.Thr1721=)
c.-17-25582T>A (n.-17-25582T>A)
c.5799T>A (p.Thr1933=)
c.5610T>A (p.Thr1870=)
c.4014T>A (p.Thr1338=)
n.6150T>A
6g.51959904dupCA2679082513PKHD1c.5874dup (p.Asn1959Ter)
c.5232dup (p.Asn1745Ter)
c.5163dup (p.Asn1722Ter)
c.-17-25582dup (n.-17-25582dup)
c.5799dup (p.Asn1934Ter)
c.5610dup (p.Asn1871Ter)
c.4014dup (p.Asn1339Ter)
n.6150dup
 gnomAD v4
6g.51959905G>ACA364421348PKHD1c.5873C>T (p.Thr1958Ile)
c.5231C>T (p.Thr1744Ile)
c.5162C>T (p.Thr1721Ile)
c.-17-25583C>T (n.-17-25583C>T)
c.5798C>T (p.Thr1933Ile)
c.5609C>T (p.Thr1870Ile)
c.4013C>T (p.Thr1338Ile)
n.6149C>T
6g.51959905G>CCA364421349PKHD1c.5873C>G (p.Thr1958Ser)
c.5231C>G (p.Thr1744Ser)
c.5162C>G (p.Thr1721Ser)
c.-17-25583C>G (n.-17-25583C>G)
c.5798C>G (p.Thr1933Ser)
c.5609C>G (p.Thr1870Ser)
c.4013C>G (p.Thr1338Ser)
n.6149C>G
 gnomAD v4
6g.51959905G>TCA364421351PKHD1c.5873C>A (p.Thr1958Asn)
c.5231C>A (p.Thr1744Asn)
c.5162C>A (p.Thr1721Asn)
c.-17-25583C>A (n.-17-25583C>A)
c.5798C>A (p.Thr1933Asn)
c.5609C>A (p.Thr1870Asn)
c.4013C>A (p.Thr1338Asn)
n.6149C>A
6g.51959906T>ACA364421353PKHD1c.5872A>T (p.Thr1958Ser)
c.5230A>T (p.Thr1744Ser)
c.5161A>T (p.Thr1721Ser)
c.-17-25584A>T (n.-17-25584A>T)
c.5797A>T (p.Thr1933Ser)
c.5608A>T (p.Thr1870Ser)
c.4012A>T (p.Thr1338Ser)
n.6148A>T
 gnomAD v4 COSMIC COSMIC
6g.51959906T>CCA364421355PKHD1c.5872A>G (p.Thr1958Ala)
c.5230A>G (p.Thr1744Ala)
c.5161A>G (p.Thr1721Ala)
c.-17-25584A>G (n.-17-25584A>G)
c.5797A>G (p.Thr1933Ala)
c.5608A>G (p.Thr1870Ala)
c.4012A>G (p.Thr1338Ala)
n.6148A>G
 gnomAD v4
6g.51959906T>GCA364421356PKHD1c.5872A>C (p.Thr1958Pro)
c.5230A>C (p.Thr1744Pro)
c.5161A>C (p.Thr1721Pro)
c.-17-25584A>C (n.-17-25584A>C)
c.5797A>C (p.Thr1933Pro)
c.5608A>C (p.Thr1870Pro)
c.4012A>C (p.Thr1338Pro)
n.6148A>C
6g.51959907G>ACA450416390PKHD1c.5871C>T (p.Asp1957=)
c.5229C>T (p.Asp1743=)
c.5160C>T (p.Asp1720=)
c.-17-25585C>T (n.-17-25585C>T)
c.5796C>T (p.Asp1932=)
c.5607C>T (p.Asp1869=)
c.4011C>T (p.Asp1337=)
n.6147C>T
6g.51959907G>CCA364421357PKHD1c.5871C>G (p.Asp1957Glu)
c.5229C>G (p.Asp1743Glu)
c.5160C>G (p.Asp1720Glu)
c.-17-25585C>G (n.-17-25585C>G)
c.5796C>G (p.Asp1932Glu)
c.5607C>G (p.Asp1869Glu)
c.4011C>G (p.Asp1337Glu)
n.6147C>G
6g.51959907G>TCA364421358PKHD1c.5871C>A (p.Asp1957Glu)
c.5229C>A (p.Asp1743Glu)
c.5160C>A (p.Asp1720Glu)
c.-17-25585C>A (n.-17-25585C>A)
c.5796C>A (p.Asp1932Glu)
c.5607C>A (p.Asp1869Glu)
c.4011C>A (p.Asp1337Glu)
n.6147C>A
6g.51959908T>ACA364421360PKHD1c.5870A>T (p.Asp1957Val)
c.5228A>T (p.Asp1743Val)
c.5159A>T (p.Asp1720Val)
c.-17-25586A>T (n.-17-25586A>T)
c.5795A>T (p.Asp1932Val)
c.5606A>T (p.Asp1869Val)
c.4010A>T (p.Asp1337Val)
n.6146A>T
6g.51959908T>CCA364421362PKHD1c.5870A>G (p.Asp1957Gly)
c.5228A>G (p.Asp1743Gly)
c.5159A>G (p.Asp1720Gly)
c.-17-25586A>G (n.-17-25586A>G)
c.5795A>G (p.Asp1932Gly)
c.5606A>G (p.Asp1869Gly)
c.4010A>G (p.Asp1337Gly)
n.6146A>G
 COSMIC COSMIC
6g.51959908T>GCA364421363PKHD1c.5870A>C (p.Asp1957Ala)
c.5228A>C (p.Asp1743Ala)
c.5159A>C (p.Asp1720Ala)
c.-17-25586A>C (n.-17-25586A>C)
c.5795A>C (p.Asp1932Ala)
c.5606A>C (p.Asp1869Ala)
c.4010A>C (p.Asp1337Ala)
n.6146A>C
6g.51959909C>ACA364421365PKHD1c.5869G>T (p.Asp1957Tyr)
c.5227G>T (p.Asp1743Tyr)
c.5158G>T (p.Asp1720Tyr)
c.-17-25587G>T (n.-17-25587G>T)
c.5794G>T (p.Asp1932Tyr)
c.5605G>T (p.Asp1869Tyr)
c.4009G>T (p.Asp1337Tyr)
n.6145G>T
6g.51959909C=CA1628608031PKHD1c.5869G= (p.Asp1957=)
c.5227G= (p.Asp1743=)
c.5158G= (p.Asp1720=)
c.-17-25587G= (n.-17-25587G=)
c.5794G= (p.Asp1932=)
c.5605G= (p.Asp1869=)
c.4009G= (p.Asp1337=)
n.6145G=
6g.51959909C>GCA364421366PKHD1c.5869G>C (p.Asp1957His)
c.5227G>C (p.Asp1743His)
c.5158G>C (p.Asp1720His)
c.-17-25587G>C (n.-17-25587G>C)
c.5794G>C (p.Asp1932His)
c.5605G>C (p.Asp1869His)
c.4009G>C (p.Asp1337His)
n.6145G>C
6g.51959909C>TCA138922754PKHD1c.5869G>A (p.Asp1957Asn)
c.5227G>A (p.Asp1743Asn)
c.5158G>A (p.Asp1720Asn)
c.-17-25587G>A (n.-17-25587G>A)
c.5794G>A (p.Asp1932Asn)
c.5605G>A (p.Asp1869Asn)
c.4009G>A (p.Asp1337Asn)
n.6145G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51959910C>ACA450416391PKHD1c.5868G>T (p.Leu1956=)
c.5226G>T (p.Leu1742=)
c.5157G>T (p.Leu1719=)
c.-17-25588G>T (n.-17-25588G>T)
c.5793G>T (p.Leu1931=)
c.5604G>T (p.Leu1868=)
c.4008G>T (p.Leu1336=)
n.6144G>T
6g.51959910C>GCA450416393PKHD1c.5868G>C (p.Leu1956=)
c.5226G>C (p.Leu1742=)
c.5157G>C (p.Leu1719=)
c.-17-25588G>C (n.-17-25588G>C)
c.5793G>C (p.Leu1931=)
c.5604G>C (p.Leu1868=)
c.4008G>C (p.Leu1336=)
n.6144G>C
6g.51959910C>TCA450416392PKHD1c.5868G>A (p.Leu1956=)
c.5226G>A (p.Leu1742=)
c.5157G>A (p.Leu1719=)
c.-17-25588G>A (n.-17-25588G>A)
c.5793G>A (p.Leu1931=)
c.5604G>A (p.Leu1868=)
c.4008G>A (p.Leu1336=)
n.6144G>A
6g.51959911A=CA1628608040PKHD1c.5867T= (p.Leu1956=)
c.5225T= (p.Leu1742=)
c.5156T= (p.Leu1719=)
c.-17-25589T= (n.-17-25589T=)
c.5792T= (p.Leu1931=)
c.5603T= (p.Leu1868=)
c.4007T= (p.Leu1336=)
n.6143T=
6g.51959911A>CCA3852407PKHD1c.5867T>G (p.Leu1956Arg)
c.5225T>G (p.Leu1742Arg)
c.5156T>G (p.Leu1719Arg)
c.-17-25589T>G (n.-17-25589T>G)
c.5792T>G (p.Leu1931Arg)
c.5603T>G (p.Leu1868Arg)
c.4007T>G (p.Leu1336Arg)
n.6143T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51959911A>GCA364421369PKHD1c.5867T>C (p.Leu1956Pro)
c.5225T>C (p.Leu1742Pro)
c.5156T>C (p.Leu1719Pro)
c.-17-25589T>C (n.-17-25589T>C)
c.5792T>C (p.Leu1931Pro)
c.5603T>C (p.Leu1868Pro)
c.4007T>C (p.Leu1336Pro)
n.6143T>C
 gnomAD v4
6g.51959911A>TCA364421370PKHD1c.5867T>A (p.Leu1956Gln)
c.5225T>A (p.Leu1742Gln)
c.5156T>A (p.Leu1719Gln)
c.-17-25589T>A (n.-17-25589T>A)
c.5792T>A (p.Leu1931Gln)
c.5603T>A (p.Leu1868Gln)
c.4007T>A (p.Leu1336Gln)
n.6143T>A
6g.51959912G>ACA450416394PKHD1c.5866C>T (p.Leu1956=)
c.5224C>T (p.Leu1742=)
c.5155C>T (p.Leu1719=)
c.-17-25590C>T (n.-17-25590C>T)
c.5791C>T (p.Leu1931=)
c.5602C>T (p.Leu1868=)
c.4006C>T (p.Leu1336=)
n.6142C>T
6g.51959912G>CCA364421372PKHD1c.5866C>G (p.Leu1956Val)
c.5224C>G (p.Leu1742Val)
c.5155C>G (p.Leu1719Val)
c.-17-25590C>G (n.-17-25590C>G)
c.5791C>G (p.Leu1931Val)
c.5602C>G (p.Leu1868Val)
c.4006C>G (p.Leu1336Val)
n.6142C>G
 dbSNP
6g.51959912G=CA1628608044PKHD1c.5866C= (p.Leu1956=)
c.5224C= (p.Leu1742=)
c.5155C= (p.Leu1719=)
c.-17-25590C= (n.-17-25590C=)
c.5791C= (p.Leu1931=)
c.5602C= (p.Leu1868=)
c.4006C= (p.Leu1336=)
n.6142C=
6g.51959912G>TCA3852408PKHD1c.5866C>A (p.Leu1956Met)
c.5224C>A (p.Leu1742Met)
c.5155C>A (p.Leu1719Met)
c.-17-25590C>A (n.-17-25590C>A)
c.5791C>A (p.Leu1931Met)
c.5602C>A (p.Leu1868Met)
c.4006C>A (p.Leu1336Met)
n.6142C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51959913C>ACA450416395PKHD1c.5865G>T (p.Leu1955=)
c.5223G>T (p.Leu1741=)
c.5154G>T (p.Leu1718=)
c.-17-25591G>T (n.-17-25591G>T)
c.5790G>T (p.Leu1930=)
c.5601G>T (p.Leu1867=)
c.4005G>T (p.Leu1335=)
n.6141G>T
6g.51959913C>GCA450416396PKHD1c.5865G>C (p.Leu1955=)
c.5223G>C (p.Leu1741=)
c.5154G>C (p.Leu1718=)
c.-17-25591G>C (n.-17-25591G>C)
c.5790G>C (p.Leu1930=)
c.5601G>C (p.Leu1867=)
c.4005G>C (p.Leu1335=)
n.6141G>C
6g.51959913C>TCA450416397PKHD1c.5865G>A (p.Leu1955=)
c.5223G>A (p.Leu1741=)
c.5154G>A (p.Leu1718=)
c.-17-25591G>A (n.-17-25591G>A)
c.5790G>A (p.Leu1930=)
c.5601G>A (p.Leu1867=)
c.4005G>A (p.Leu1335=)
n.6141G>A
6g.51959913_51959916delCA913110712PKHD1c.5862_5865del (p.Leu1955TrpfsTer18)
c.5220_5223del (p.Leu1741TrpfsTer18)
c.5151_5154del (p.Leu1718TrpfsTer18)
c.-17-25594_-17-25591del (n.-17-25594_-17-25591del)
c.5787_5790del (p.Leu1930TrpfsTer18)
c.5598_5601del (p.Leu1867TrpfsTer18)
c.4002_4005del (p.Leu1335TrpfsTer18)
n.6138_6141del
6g.51959913_51959916delinsCAGACA1628608050PKHD1c.5862_5865delinsTCTG (p.Leu1954=)
c.5220_5223delinsTCTG (p.Leu1740=)
c.5151_5154delinsTCTG (p.Leu1717=)
c.-17-25594_-17-25591delinsTCTG (n.-17-25594_-17-25591delinsTCTG)
c.5787_5790delinsTCTG (p.Leu1929=)
c.5598_5601delinsTCTG (p.Leu1866=)
c.4002_4005delinsTCTG (p.Leu1334=)
n.6138_6141delinsTCTG
6g.51959914A>CCA364421374PKHD1c.5864T>G (p.Leu1955Arg)
c.5222T>G (p.Leu1741Arg)
c.5153T>G (p.Leu1718Arg)
c.-17-25592T>G (n.-17-25592T>G)
c.5789T>G (p.Leu1930Arg)
c.5600T>G (p.Leu1867Arg)
c.4004T>G (p.Leu1335Arg)
n.6140T>G
6g.51959914A>GCA364421375PKHD1c.5864T>C (p.Leu1955Pro)
c.5222T>C (p.Leu1741Pro)
c.5153T>C (p.Leu1718Pro)
c.-17-25592T>C (n.-17-25592T>C)
c.5789T>C (p.Leu1930Pro)
c.5600T>C (p.Leu1867Pro)
c.4004T>C (p.Leu1335Pro)
n.6140T>C
6g.51959914A>TCA364421376PKHD1c.5864T>A (p.Leu1955Gln)
c.5222T>A (p.Leu1741Gln)
c.5153T>A (p.Leu1718Gln)
c.-17-25592T>A (n.-17-25592T>A)
c.5789T>A (p.Leu1930Gln)
c.5600T>A (p.Leu1867Gln)
c.4004T>A (p.Leu1335Gln)
n.6140T>A
6g.51959916_51959918delCA658821518PKHD1c.5862_5864del (p.Leu1955del)
c.5220_5222del (p.Leu1741del)
c.5151_5153del (p.Leu1718del)
c.-17-25594_-17-25592del (n.-17-25594_-17-25592del)
c.5787_5789del (p.Leu1930del)
c.5598_5600del (p.Leu1867del)
c.4002_4004del (p.Leu1335del)
n.6138_6140del
 ClinVar dbSNP
6g.51959915G>ACA450416398PKHD1c.5863C>T (p.Leu1955=)
c.5221C>T (p.Leu1741=)
c.5152C>T (p.Leu1718=)
c.-17-25593C>T (n.-17-25593C>T)
c.5788C>T (p.Leu1930=)
c.5599C>T (p.Leu1867=)
c.4003C>T (p.Leu1335=)
n.6139C>T
6g.51959915G>CCA364421378PKHD1c.5863C>G (p.Leu1955Val)
c.5221C>G (p.Leu1741Val)
c.5152C>G (p.Leu1718Val)
c.-17-25593C>G (n.-17-25593C>G)
c.5788C>G (p.Leu1930Val)
c.5599C>G (p.Leu1867Val)
c.4003C>G (p.Leu1335Val)
n.6139C>G
6g.51959915G>TCA364421380PKHD1c.5863C>A (p.Leu1955Met)
c.5221C>A (p.Leu1741Met)
c.5152C>A (p.Leu1718Met)
c.-17-25593C>A (n.-17-25593C>A)
c.5788C>A (p.Leu1930Met)
c.5599C>A (p.Leu1867Met)
c.4003C>A (p.Leu1335Met)
n.6139C>A
6g.51959916A>CCA450416399PKHD1c.5862T>G (p.Leu1954=)
c.5220T>G (p.Leu1740=)
c.5151T>G (p.Leu1717=)
c.-17-25594T>G (n.-17-25594T>G)
c.5787T>G (p.Leu1929=)
c.5598T>G (p.Leu1866=)
c.4002T>G (p.Leu1334=)
n.6138T>G
6g.51959916A>GCA450416400PKHD1c.5862T>C (p.Leu1954=)
c.5220T>C (p.Leu1740=)
c.5151T>C (p.Leu1717=)
c.-17-25594T>C (n.-17-25594T>C)
c.5787T>C (p.Leu1929=)
c.5598T>C (p.Leu1866=)
c.4002T>C (p.Leu1334=)
n.6138T>C
6g.51959916A>TCA450416401PKHD1c.5862T>A (p.Leu1954=)
c.5220T>A (p.Leu1740=)
c.5151T>A (p.Leu1717=)
c.-17-25594T>A (n.-17-25594T>A)
c.5787T>A (p.Leu1929=)
c.5598T>A (p.Leu1866=)
c.4002T>A (p.Leu1334=)
n.6138T>A
6g.51959917A=CA1628608060PKHD1c.5861T= (p.Leu1954=)
c.5219T= (p.Leu1740=)
c.5150T= (p.Leu1717=)
c.-17-25595T= (n.-17-25595T=)
c.5786T= (p.Leu1929=)
c.5597T= (p.Leu1866=)
c.4001T= (p.Leu1334=)
n.6137T=
6g.51959917A>CCA3852409PKHD1c.5861T>G (p.Leu1954Arg)
c.5219T>G (p.Leu1740Arg)
c.5150T>G (p.Leu1717Arg)
c.-17-25595T>G (n.-17-25595T>G)
c.5786T>G (p.Leu1929Arg)
c.5597T>G (p.Leu1866Arg)
c.4001T>G (p.Leu1334Arg)
n.6137T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51959917A>GCA364421382PKHD1c.5861T>C (p.Leu1954Pro)
c.5219T>C (p.Leu1740Pro)
c.5150T>C (p.Leu1717Pro)
c.-17-25595T>C (n.-17-25595T>C)
c.5786T>C (p.Leu1929Pro)
c.5597T>C (p.Leu1866Pro)
c.4001T>C (p.Leu1334Pro)
n.6137T>C
 dbSNP gnomAD v2 gnomAD v4
6g.51959917A>TCA364421384PKHD1c.5861T>A (p.Leu1954His)
c.5219T>A (p.Leu1740His)
c.5150T>A (p.Leu1717His)
c.-17-25595T>A (n.-17-25595T>A)
c.5786T>A (p.Leu1929His)
c.5597T>A (p.Leu1866His)
c.4001T>A (p.Leu1334His)
n.6137T>A
6g.51959918G>ACA364421385PKHD1c.5860C>T (p.Leu1954Phe)
c.5218C>T (p.Leu1740Phe)
c.5149C>T (p.Leu1717Phe)
c.-17-25596C>T (n.-17-25596C>T)
c.5785C>T (p.Leu1929Phe)
c.5596C>T (p.Leu1866Phe)
c.4000C>T (p.Leu1334Phe)
n.6136C>T
6g.51959918G>CCA364421388PKHD1c.5860C>G (p.Leu1954Val)
c.5218C>G (p.Leu1740Val)
c.5149C>G (p.Leu1717Val)
c.-17-25596C>G (n.-17-25596C>G)
c.5785C>G (p.Leu1929Val)
c.5596C>G (p.Leu1866Val)
c.4000C>G (p.Leu1334Val)
n.6136C>G
6g.51959918G>TCA364421387PKHD1c.5860C>A (p.Leu1954Ile)
c.5218C>A (p.Leu1740Ile)
c.5149C>A (p.Leu1717Ile)
c.-17-25596C>A (n.-17-25596C>A)
c.5785C>A (p.Leu1929Ile)
c.5596C>A (p.Leu1866Ile)
c.4000C>A (p.Leu1334Ile)
n.6136C>A
6g.51959919C>ACA364421390PKHD1c.5859G>T (p.Leu1953Phe)
c.5217G>T (p.Leu1739Phe)
c.5148G>T (p.Leu1716Phe)
c.-17-25597G>T (n.-17-25597G>T)
c.5784G>T (p.Leu1928Phe)
c.5595G>T (p.Leu1865Phe)
c.3999G>T (p.Leu1333Phe)
n.6135G>T
6g.51959919C>GCA364421391PKHD1c.5859G>C (p.Leu1953Phe)
c.5217G>C (p.Leu1739Phe)
c.5148G>C (p.Leu1716Phe)
c.-17-25597G>C (n.-17-25597G>C)
c.5784G>C (p.Leu1928Phe)
c.5595G>C (p.Leu1865Phe)
c.3999G>C (p.Leu1333Phe)
n.6135G>C
6g.51959919C>TCA450416402PKHD1c.5859G>A (p.Leu1953=)
c.5217G>A (p.Leu1739=)
c.5148G>A (p.Leu1716=)
c.-17-25597G>A (n.-17-25597G>A)
c.5784G>A (p.Leu1928=)
c.5595G>A (p.Leu1865=)
c.3999G>A (p.Leu1333=)
n.6135G>A
6g.51959920A>CCA364421392PKHD1c.5858T>G (p.Leu1953Trp)
c.5216T>G (p.Leu1739Trp)
c.5147T>G (p.Leu1716Trp)
c.-17-25598T>G (n.-17-25598T>G)
c.5783T>G (p.Leu1928Trp)
c.5594T>G (p.Leu1865Trp)
c.3998T>G (p.Leu1333Trp)
n.6134T>G
6g.51959920A>GCA364421394PKHD1c.5858T>C (p.Leu1953Ser)
c.5216T>C (p.Leu1739Ser)
c.5147T>C (p.Leu1716Ser)
c.-17-25598T>C (n.-17-25598T>C)
c.5783T>C (p.Leu1928Ser)
c.5594T>C (p.Leu1865Ser)
c.3998T>C (p.Leu1333Ser)
n.6134T>C
6g.51959920A>TCA364421396PKHD1c.5858T>A (p.Leu1953Ter)
c.5216T>A (p.Leu1739Ter)
c.5147T>A (p.Leu1716Ter)
c.-17-25598T>A (n.-17-25598T>A)
c.5783T>A (p.Leu1928Ter)
c.5594T>A (p.Leu1865Ter)
c.3998T>A (p.Leu1333Ter)
n.6134T>A
 gnomAD v4
6g.51959921delCA2573140948PKHD1c.5858del (p.Leu1953CysfsTer21)
c.5216del (p.Leu1739CysfsTer21)
c.5147del (p.Leu1716CysfsTer21)
c.-17-25598del (n.-17-25598del)
c.5783del (p.Leu1928CysfsTer21)
c.5594del (p.Leu1865CysfsTer21)
c.3998del (p.Leu1333CysfsTer21)
n.6134del
 ClinVar dbSNP
6g.51959921A=CA1628608065PKHD1c.5857T= (p.Leu1953=)
c.5215T= (p.Leu1739=)
c.5146T= (p.Leu1716=)
c.-17-25599T= (n.-17-25599T=)
c.5782T= (p.Leu1928=)
c.5593T= (p.Leu1865=)
c.3997T= (p.Leu1333=)
n.6133T=
6g.51959921A>CCA364421397PKHD1c.5857T>G (p.Leu1953Val)
c.5215T>G (p.Leu1739Val)
c.5146T>G (p.Leu1716Val)
c.-17-25599T>G (n.-17-25599T>G)
c.5782T>G (p.Leu1928Val)
c.5593T>G (p.Leu1865Val)
c.3997T>G (p.Leu1333Val)
n.6133T>G
6g.51959921A>GCA450416403PKHD1c.5857T>C (p.Leu1953=)
c.5215T>C (p.Leu1739=)
c.5146T>C (p.Leu1716=)
c.-17-25599T>C (n.-17-25599T>C)
c.5782T>C (p.Leu1928=)
c.5593T>C (p.Leu1865=)
c.3997T>C (p.Leu1333=)
n.6133T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51959921A>TCA364421398PKHD1c.5857T>A (p.Leu1953Met)
c.5215T>A (p.Leu1739Met)
c.5146T>A (p.Leu1716Met)
c.-17-25599T>A (n.-17-25599T>A)
c.5782T>A (p.Leu1928Met)
c.5593T>A (p.Leu1865Met)
c.3997T>A (p.Leu1333Met)
n.6133T>A
6g.51959922T>ACA364421400PKHD1c.5856A>T (p.Gln1952His)
c.5214A>T (p.Gln1738His)
c.5145A>T (p.Gln1715His)
c.-17-25600A>T (n.-17-25600A>T)
c.5781A>T (p.Gln1927His)
c.5592A>T (p.Gln1864His)
c.3996A>T (p.Gln1332His)
n.6132A>T
 dbSNP gnomAD v2 gnomAD v4
6g.51959922T>CCA138922769PKHD1c.5856A>G (p.Gln1952=)
c.5214A>G (p.Gln1738=)
c.5145A>G (p.Gln1715=)
c.-17-25600A>G (n.-17-25600A>G)
c.5781A>G (p.Gln1927=)
c.5592A>G (p.Gln1864=)
c.3996A>G (p.Gln1332=)
n.6132A>G
 ClinVar dbSNP gnomAD v4
6g.51959922T>GCA364421402PKHD1c.5856A>C (p.Gln1952His)
c.5214A>C (p.Gln1738His)
c.5145A>C (p.Gln1715His)
c.-17-25600A>C (n.-17-25600A>C)
c.5781A>C (p.Gln1927His)
c.5592A>C (p.Gln1864His)
c.3996A>C (p.Gln1332His)
n.6132A>C
6g.51959922T=CA1628608067PKHD1c.5856A= (p.Gln1952=)
c.5214A= (p.Gln1738=)
c.5145A= (p.Gln1715=)
c.-17-25600A= (n.-17-25600A=)
c.5781A= (p.Gln1927=)
c.5592A= (p.Gln1864=)
c.3996A= (p.Gln1332=)
n.6132A=
6g.51959923T>ACA364421406PKHD1c.5855A>T (p.Gln1952Leu)
c.5213A>T (p.Gln1738Leu)
c.5144A>T (p.Gln1715Leu)
c.-17-25601A>T (n.-17-25601A>T)
c.5780A>T (p.Gln1927Leu)
c.5591A>T (p.Gln1864Leu)
c.3995A>T (p.Gln1332Leu)
n.6131A>T
6g.51959923T>CCA364421405PKHD1c.5855A>G (p.Gln1952Arg)
c.5213A>G (p.Gln1738Arg)
c.5144A>G (p.Gln1715Arg)
c.-17-25601A>G (n.-17-25601A>G)
c.5780A>G (p.Gln1927Arg)
c.5591A>G (p.Gln1864Arg)
c.3995A>G (p.Gln1332Arg)
n.6131A>G
6g.51959923T>GCA364421403PKHD1c.5855A>C (p.Gln1952Pro)
c.5213A>C (p.Gln1738Pro)
c.5144A>C (p.Gln1715Pro)
c.-17-25601A>C (n.-17-25601A>C)
c.5780A>C (p.Gln1927Pro)
c.5591A>C (p.Gln1864Pro)
c.3995A>C (p.Gln1332Pro)
n.6131A>C
6g.51959924G>ACA364421408PKHD1c.5854C>T (p.Gln1952Ter)
c.5212C>T (p.Gln1738Ter)
c.5143C>T (p.Gln1715Ter)
c.-17-25602C>T (n.-17-25602C>T)
c.5779C>T (p.Gln1927Ter)
c.5590C>T (p.Gln1864Ter)
c.3994C>T (p.Gln1332Ter)
n.6130C>T
6g.51959924G>CCA364421410PKHD1c.5854C>G (p.Gln1952Glu)
c.5212C>G (p.Gln1738Glu)
c.5143C>G (p.Gln1715Glu)
c.-17-25602C>G (n.-17-25602C>G)
c.5779C>G (p.Gln1927Glu)
c.5590C>G (p.Gln1864Glu)
c.3994C>G (p.Gln1332Glu)
n.6130C>G
6g.51959924G>TCA364421412PKHD1c.5854C>A (p.Gln1952Lys)
c.5212C>A (p.Gln1738Lys)
c.5143C>A (p.Gln1715Lys)
c.-17-25602C>A (n.-17-25602C>A)
c.5779C>A (p.Gln1927Lys)
c.5590C>A (p.Gln1864Lys)
c.3994C>A (p.Gln1332Lys)
n.6130C>A
6g.51959925G>ACA450416404PKHD1c.5853C>T (p.Gly1951=)
c.5211C>T (p.Gly1737=)
c.5142C>T (p.Gly1714=)
c.-17-25603C>T (n.-17-25603C>T)
c.5778C>T (p.Gly1926=)
c.5589C>T (p.Gly1863=)
c.3993C>T (p.Gly1331=)
n.6129C>T
6g.51959925G>CCA450416405PKHD1c.5853C>G (p.Gly1951=)
c.5211C>G (p.Gly1737=)
c.5142C>G (p.Gly1714=)
c.-17-25603C>G (n.-17-25603C>G)
c.5778C>G (p.Gly1926=)
c.5589C>G (p.Gly1863=)
c.3993C>G (p.Gly1331=)
n.6129C>G
 gnomAD v4
6g.51959925G=CA1628608078PKHD1c.5853C= (p.Gly1951=)
c.5211C= (p.Gly1737=)
c.5142C= (p.Gly1714=)
c.-17-25603C= (n.-17-25603C=)
c.5778C= (p.Gly1926=)
c.5589C= (p.Gly1863=)
c.3993C= (p.Gly1331=)
n.6129C=
6g.51959925G>TCA450416406PKHD1c.5853C>A (p.Gly1951=)
c.5211C>A (p.Gly1737=)
c.5142C>A (p.Gly1714=)
c.-17-25603C>A (n.-17-25603C>A)
c.5778C>A (p.Gly1926=)
c.5589C>A (p.Gly1863=)
c.3993C>A (p.Gly1331=)
n.6129C>A
 dbSNP gnomAD v2 gnomAD v4
6g.51959926C>ACA364421413PKHD1c.5852G>T (p.Gly1951Val)
c.5210G>T (p.Gly1737Val)
c.5141G>T (p.Gly1714Val)
c.-17-25604G>T (n.-17-25604G>T)
c.5777G>T (p.Gly1926Val)
c.5588G>T (p.Gly1863Val)
c.3992G>T (p.Gly1331Val)
n.6128G>T
 COSMIC COSMIC
6g.51959926C=CA1628608082PKHD1c.5852G= (p.Gly1951=)
c.5210G= (p.Gly1737=)
c.5141G= (p.Gly1714=)
c.-17-25604G= (n.-17-25604G=)
c.5777G= (p.Gly1926=)
c.5588G= (p.Gly1863=)
c.3992G= (p.Gly1331=)
n.6128G=
6g.51959926C>GCA364421414PKHD1c.5852G>C (p.Gly1951Ala)
c.5210G>C (p.Gly1737Ala)
c.5141G>C (p.Gly1714Ala)
c.-17-25604G>C (n.-17-25604G>C)
c.5777G>C (p.Gly1926Ala)
c.5588G>C (p.Gly1863Ala)
c.3992G>C (p.Gly1331Ala)
n.6128G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51959926C>TCA364421415PKHD1c.5852G>A (p.Gly1951Asp)
c.5210G>A (p.Gly1737Asp)
c.5141G>A (p.Gly1714Asp)
c.-17-25604G>A (n.-17-25604G>A)
c.5777G>A (p.Gly1926Asp)
c.5588G>A (p.Gly1863Asp)
c.3992G>A (p.Gly1331Asp)
n.6128G>A
6g.51959927C>ACA364421420PKHD1c.5851G>T (p.Gly1951Cys)
c.5209G>T (p.Gly1737Cys)
c.5140G>T (p.Gly1714Cys)
c.-17-25605G>T (n.-17-25605G>T)
c.5776G>T (p.Gly1926Cys)
c.5587G>T (p.Gly1863Cys)
c.3991G>T (p.Gly1331Cys)
n.6127G>T
6g.51959927C>GCA364421418PKHD1c.5851G>C (p.Gly1951Arg)
c.5209G>C (p.Gly1737Arg)
c.5140G>C (p.Gly1714Arg)
c.-17-25605G>C (n.-17-25605G>C)
c.5776G>C (p.Gly1926Arg)
c.5587G>C (p.Gly1863Arg)
c.3991G>C (p.Gly1331Arg)
n.6127G>C
6g.51959927C>TCA364421417PKHD1c.5851G>A (p.Gly1951Ser)
c.5209G>A (p.Gly1737Ser)
c.5140G>A (p.Gly1714Ser)
c.-17-25605G>A (n.-17-25605G>A)
c.5776G>A (p.Gly1926Ser)
c.5587G>A (p.Gly1863Ser)
c.3991G>A (p.Gly1331Ser)
n.6127G>A
6g.51959927_51959928delCA2679082514PKHD1c.5850_5851del (p.Asn1950LysfsTer9)
c.5208_5209del (p.Asn1736LysfsTer9)
c.5139_5140del (p.Asn1713LysfsTer9)
c.-17-25606_-17-25605del (n.-17-25606_-17-25605del)
c.5775_5776del (p.Asn1925LysfsTer9)
c.5586_5587del (p.Asn1862LysfsTer9)
c.3990_3991del (p.Asn1330LysfsTer9)
n.6126_6127del
 gnomAD v4
6g.51959928A=CA1628608088PKHD1c.5850T= (p.Asn1950=)
c.5208T= (p.Asn1736=)
c.5139T= (p.Asn1713=)
c.-17-25606T= (n.-17-25606T=)
c.5775T= (p.Asn1925=)
c.5586T= (p.Asn1862=)
c.3990T= (p.Asn1330=)
n.6126T=
6g.51959928A>CCA364421422PKHD1c.5850T>G (p.Asn1950Lys)
c.5208T>G (p.Asn1736Lys)
c.5139T>G (p.Asn1713Lys)
c.-17-25606T>G (n.-17-25606T>G)
c.5775T>G (p.Asn1925Lys)
c.5586T>G (p.Asn1862Lys)
c.3990T>G (p.Asn1330Lys)
n.6126T>G
 dbSNP gnomAD v2 gnomAD v4
6g.51959928A>GCA3852410PKHD1c.5850T>C (p.Asn1950=)
c.5208T>C (p.Asn1736=)
c.5139T>C (p.Asn1713=)
c.-17-25606T>C (n.-17-25606T>C)
c.5775T>C (p.Asn1925=)
c.5586T>C (p.Asn1862=)
c.3990T>C (p.Asn1330=)
n.6126T>C
 ClinVar dbSNP ExAC gnomAD v2
6g.51959928A>TCA364421424PKHD1c.5850T>A (p.Asn1950Lys)
c.5208T>A (p.Asn1736Lys)
c.5139T>A (p.Asn1713Lys)
c.-17-25606T>A (n.-17-25606T>A)
c.5775T>A (p.Asn1925Lys)
c.5586T>A (p.Asn1862Lys)
c.3990T>A (p.Asn1330Lys)
n.6126T>A
6g.51959929T>ACA364421426PKHD1c.5849A>T (p.Asn1950Ile)
c.5207A>T (p.Asn1736Ile)
c.5138A>T (p.Asn1713Ile)
c.-17-25607A>T (n.-17-25607A>T)
c.5774A>T (p.Asn1925Ile)
c.5585A>T (p.Asn1862Ile)
c.3989A>T (p.Asn1330Ile)
n.6125A>T
6g.51959929T>CCA364421428PKHD1c.5849A>G (p.Asn1950Ser)
c.5207A>G (p.Asn1736Ser)
c.5138A>G (p.Asn1713Ser)
c.-17-25607A>G (n.-17-25607A>G)
c.5774A>G (p.Asn1925Ser)
c.5585A>G (p.Asn1862Ser)
c.3989A>G (p.Asn1330Ser)
n.6125A>G
6g.51959929T>GCA364421429PKHD1c.5849A>C (p.Asn1950Thr)
c.5207A>C (p.Asn1736Thr)
c.5138A>C (p.Asn1713Thr)
c.-17-25607A>C (n.-17-25607A>C)
c.5774A>C (p.Asn1925Thr)
c.5585A>C (p.Asn1862Thr)
c.3989A>C (p.Asn1330Thr)
n.6125A>C
6g.51959930T>ACA3852411PKHD1c.5848A>T (p.Asn1950Tyr)
c.5206A>T (p.Asn1736Tyr)
c.5137A>T (p.Asn1713Tyr)
c.-17-25608A>T (n.-17-25608A>T)
c.5773A>T (p.Asn1925Tyr)
c.5584A>T (p.Asn1862Tyr)
c.3988A>T (p.Asn1330Tyr)
n.6124A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51959930T>CCA364421433PKHD1c.5848A>G (p.Asn1950Asp)
c.5206A>G (p.Asn1736Asp)
c.5137A>G (p.Asn1713Asp)
c.-17-25608A>G (n.-17-25608A>G)
c.5773A>G (p.Asn1925Asp)
c.5584A>G (p.Asn1862Asp)
c.3988A>G (p.Asn1330Asp)
n.6124A>G
6g.51959930T>GCA364421432PKHD1c.5848A>C (p.Asn1950His)
c.5206A>C (p.Asn1736His)
c.5137A>C (p.Asn1713His)
c.-17-25608A>C (n.-17-25608A>C)
c.5773A>C (p.Asn1925His)
c.5584A>C (p.Asn1862His)
c.3988A>C (p.Asn1330His)
n.6124A>C
6g.51959930T=CA1628608094PKHD1c.5848A= (p.Asn1950=)
c.5206A= (p.Asn1736=)
c.5137A= (p.Asn1713=)
c.-17-25608A= (n.-17-25608A=)
c.5773A= (p.Asn1925=)
c.5584A= (p.Asn1862=)
c.3988A= (p.Asn1330=)
n.6124A=
6g.51959931C>ACA364421435PKHD1c.5847G>T (p.Glu1949Asp)
c.5205G>T (p.Glu1735Asp)
c.5136G>T (p.Glu1712Asp)
c.-17-25609G>T (n.-17-25609G>T)
c.5772G>T (p.Glu1924Asp)
c.5583G>T (p.Glu1861Asp)
c.3987G>T (p.Glu1329Asp)
n.6123G>T
 COSMIC COSMIC
6g.51959931C>GCA364421436PKHD1c.5847G>C (p.Glu1949Asp)
c.5205G>C (p.Glu1735Asp)
c.5136G>C (p.Glu1712Asp)
c.-17-25609G>C (n.-17-25609G>C)
c.5772G>C (p.Glu1924Asp)
c.5583G>C (p.Glu1861Asp)
c.3987G>C (p.Glu1329Asp)
n.6123G>C
6g.51959931C>TCA450416407PKHD1c.5847G>A (p.Glu1949=)
c.5205G>A (p.Glu1735=)
c.5136G>A (p.Glu1712=)
c.-17-25609G>A (n.-17-25609G>A)
c.5772G>A (p.Glu1924=)
c.5583G>A (p.Glu1861=)
c.3987G>A (p.Glu1329=)
n.6123G>A
6g.51959932T>ACA364421438PKHD1c.5846A>T (p.Glu1949Val)
c.5204A>T (p.Glu1735Val)
c.5135A>T (p.Glu1712Val)
c.-17-25610A>T (n.-17-25610A>T)
c.5771A>T (p.Glu1924Val)
c.5582A>T (p.Glu1861Val)
c.3986A>T (p.Glu1329Val)
n.6122A>T
6g.51959932T>CCA138922773PKHD1c.5846A>G (p.Glu1949Gly)
c.5204A>G (p.Glu1735Gly)
c.5135A>G (p.Glu1712Gly)
c.-17-25610A>G (n.-17-25610A>G)
c.5771A>G (p.Glu1924Gly)
c.5582A>G (p.Glu1861Gly)
c.3986A>G (p.Glu1329Gly)
n.6122A>G
 dbSNP
6g.51959932T>GCA364421440PKHD1c.5846A>C (p.Glu1949Ala)
c.5204A>C (p.Glu1735Ala)
c.5135A>C (p.Glu1712Ala)
c.-17-25610A>C (n.-17-25610A>C)
c.5771A>C (p.Glu1924Ala)
c.5582A>C (p.Glu1861Ala)
c.3986A>C (p.Glu1329Ala)
n.6122A>C
 COSMIC COSMIC
6g.51959932T=CA1628608102PKHD1c.5846A= (p.Glu1949=)
c.5204A= (p.Glu1735=)
c.5135A= (p.Glu1712=)
c.-17-25610A= (n.-17-25610A=)
c.5771A= (p.Glu1924=)
c.5582A= (p.Glu1861=)
c.3986A= (p.Glu1329=)
n.6122A=
6g.51959933C>ACA364421442PKHD1c.5845G>T (p.Glu1949Ter)
c.5203G>T (p.Glu1735Ter)
c.5134G>T (p.Glu1712Ter)
c.-17-25611G>T (n.-17-25611G>T)
c.5770G>T (p.Glu1924Ter)
c.5581G>T (p.Glu1861Ter)
c.3985G>T (p.Glu1329Ter)
n.6121G>T
6g.51959933C=CA1628608107PKHD1c.5845G= (p.Glu1949=)
c.5203G= (p.Glu1735=)
c.5134G= (p.Glu1712=)
c.-17-25611G= (n.-17-25611G=)
c.5770G= (p.Glu1924=)
c.5581G= (p.Glu1861=)
c.3985G= (p.Glu1329=)
n.6121G=
6g.51959933C>GCA364421443PKHD1c.5845G>C (p.Glu1949Gln)
c.5203G>C (p.Glu1735Gln)
c.5134G>C (p.Glu1712Gln)
c.-17-25611G>C (n.-17-25611G>C)
c.5770G>C (p.Glu1924Gln)
c.5581G>C (p.Glu1861Gln)
c.3985G>C (p.Glu1329Gln)
n.6121G>C
 dbSNP
6g.51959933C>TCA364421446PKHD1c.5845G>A (p.Glu1949Lys)
c.5203G>A (p.Glu1735Lys)
c.5134G>A (p.Glu1712Lys)
c.-17-25611G>A (n.-17-25611G>A)
c.5770G>A (p.Glu1924Lys)
c.5581G>A (p.Glu1861Lys)
c.3985G>A (p.Glu1329Lys)
n.6121G>A
 gnomAD v4
6g.51959934C>ACA450416408PKHD1c.5844G>T (p.Val1948=)
c.5202G>T (p.Val1734=)
c.5133G>T (p.Val1711=)
c.-17-25612G>T (n.-17-25612G>T)
c.5769G>T (p.Val1923=)
c.5580G>T (p.Val1860=)
c.3984G>T (p.Val1328=)
n.6120G>T
6g.51959934C>GCA450416409PKHD1c.5844G>C (p.Val1948=)
c.5202G>C (p.Val1734=)
c.5133G>C (p.Val1711=)
c.-17-25612G>C (n.-17-25612G>C)
c.5769G>C (p.Val1923=)
c.5580G>C (p.Val1860=)
c.3984G>C (p.Val1328=)
n.6120G>C
6g.51959934C>TCA450416410PKHD1c.5844G>A (p.Val1948=)
c.5202G>A (p.Val1734=)
c.5133G>A (p.Val1711=)
c.-17-25612G>A (n.-17-25612G>A)
c.5769G>A (p.Val1923=)
c.5580G>A (p.Val1860=)
c.3984G>A (p.Val1328=)
n.6120G>A
 gnomAD v4
6g.51959935A>CCA364421447PKHD1c.5843T>G (p.Val1948Gly)
c.5201T>G (p.Val1734Gly)
c.5132T>G (p.Val1711Gly)
c.-17-25613T>G (n.-17-25613T>G)
c.5768T>G (p.Val1923Gly)
c.5579T>G (p.Val1860Gly)
c.3983T>G (p.Val1328Gly)
n.6119T>G
6g.51959935A>GCA364421449PKHD1c.5843T>C (p.Val1948Ala)
c.5201T>C (p.Val1734Ala)
c.5132T>C (p.Val1711Ala)
c.-17-25613T>C (n.-17-25613T>C)
c.5768T>C (p.Val1923Ala)
c.5579T>C (p.Val1860Ala)
c.3983T>C (p.Val1328Ala)
n.6119T>C
6g.51959935A>TCA364421451PKHD1c.5843T>A (p.Val1948Glu)
c.5201T>A (p.Val1734Glu)
c.5132T>A (p.Val1711Glu)
c.-17-25613T>A (n.-17-25613T>A)
c.5768T>A (p.Val1923Glu)
c.5579T>A (p.Val1860Glu)
c.3983T>A (p.Val1328Glu)
n.6119T>A
6g.51959936C>ACA364421453PKHD1c.5842G>T (p.Val1948Leu)
c.5200G>T (p.Val1734Leu)
c.5131G>T (p.Val1711Leu)
c.-17-25614G>T (n.-17-25614G>T)
c.5767G>T (p.Val1923Leu)
c.5578G>T (p.Val1860Leu)
c.3982G>T (p.Val1328Leu)
n.6118G>T
6g.51959936C>GCA364421455PKHD1c.5842G>C (p.Val1948Leu)
c.5200G>C (p.Val1734Leu)
c.5131G>C (p.Val1711Leu)
c.-17-25614G>C (n.-17-25614G>C)
c.5767G>C (p.Val1923Leu)
c.5578G>C (p.Val1860Leu)
c.3982G>C (p.Val1328Leu)
n.6118G>C
6g.51959936C>TCA364421454PKHD1c.5842G>A (p.Val1948Met)
c.5200G>A (p.Val1734Met)
c.5131G>A (p.Val1711Met)
c.-17-25614G>A (n.-17-25614G>A)
c.5767G>A (p.Val1923Met)
c.5578G>A (p.Val1860Met)
c.3982G>A (p.Val1328Met)
n.6118G>A
6g.51959937T>ACA450416411PKHD1c.5841A>T (p.Thr1947=)
c.5199A>T (p.Thr1733=)
c.5130A>T (p.Thr1710=)
c.-17-25615A>T (n.-17-25615A>T)
c.5766A>T (p.Thr1922=)
c.5577A>T (p.Thr1859=)
c.3981A>T (p.Thr1327=)
n.6117A>T
6g.51959937T>CCA3852413PKHD1c.5841A>G (p.Thr1947=)
c.5199A>G (p.Thr1733=)
c.5130A>G (p.Thr1710=)
c.-17-25615A>G (n.-17-25615A>G)
c.5766A>G (p.Thr1922=)
c.5577A>G (p.Thr1859=)
c.3981A>G (p.Thr1327=)
n.6117A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51959937T>GCA3852412PKHD1c.5841A>C (p.Thr1947=)
c.5199A>C (p.Thr1733=)
c.5130A>C (p.Thr1710=)
c.-17-25615A>C (n.-17-25615A>C)
c.5766A>C (p.Thr1922=)
c.5577A>C (p.Thr1859=)
c.3981A>C (p.Thr1327=)
n.6117A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51959937T=CA1628608113PKHD1c.5841A= (p.Thr1947=)
c.5199A= (p.Thr1733=)
c.5130A= (p.Thr1710=)
c.-17-25615A= (n.-17-25615A=)
c.5766A= (p.Thr1922=)
c.5577A= (p.Thr1859=)
c.3981A= (p.Thr1327=)
n.6117A=
6g.51959938G>ACA364421459PKHD1c.5840C>T (p.Thr1947Ile)
c.5198C>T (p.Thr1733Ile)
c.5129C>T (p.Thr1710Ile)
c.-17-25616C>T (n.-17-25616C>T)
c.5765C>T (p.Thr1922Ile)
c.5576C>T (p.Thr1859Ile)
c.3980C>T (p.Thr1327Ile)
n.6116C>T
6g.51959938G>CCA364421461PKHD1c.5840C>G (p.Thr1947Arg)
c.5198C>G (p.Thr1733Arg)
c.5129C>G (p.Thr1710Arg)
c.-17-25616C>G (n.-17-25616C>G)
c.5765C>G (p.Thr1922Arg)
c.5576C>G (p.Thr1859Arg)
c.3980C>G (p.Thr1327Arg)
n.6116C>G
6g.51959938G>TCA364421463PKHD1c.5840C>A (p.Thr1947Lys)
c.5198C>A (p.Thr1733Lys)
c.5129C>A (p.Thr1710Lys)
c.-17-25616C>A (n.-17-25616C>A)
c.5765C>A (p.Thr1922Lys)
c.5576C>A (p.Thr1859Lys)
c.3980C>A (p.Thr1327Lys)
n.6116C>A
 COSMIC COSMIC
6g.51959939T>ACA364421465PKHD1c.5839A>T (p.Thr1947Ser)
c.5197A>T (p.Thr1733Ser)
c.5128A>T (p.Thr1710Ser)
c.-17-25617A>T (n.-17-25617A>T)
c.5764A>T (p.Thr1922Ser)
c.5575A>T (p.Thr1859Ser)
c.3979A>T (p.Thr1327Ser)
n.6115A>T
6g.51959939T>CCA364421468PKHD1c.5839A>G (p.Thr1947Ala)
c.5197A>G (p.Thr1733Ala)
c.5128A>G (p.Thr1710Ala)
c.-17-25617A>G (n.-17-25617A>G)
c.5764A>G (p.Thr1922Ala)
c.5575A>G (p.Thr1859Ala)
c.3979A>G (p.Thr1327Ala)
n.6115A>G
 dbSNP gnomAD v2 gnomAD v4
6g.51959939T>GCA364421469PKHD1c.5839A>C (p.Thr1947Pro)
c.5197A>C (p.Thr1733Pro)
c.5128A>C (p.Thr1710Pro)
c.-17-25617A>C (n.-17-25617A>C)
c.5764A>C (p.Thr1922Pro)
c.5575A>C (p.Thr1859Pro)
c.3979A>C (p.Thr1327Pro)
n.6115A>C
6g.51959939T=CA1628608120PKHD1c.5839A= (p.Thr1947=)
c.5197A= (p.Thr1733=)
c.5128A= (p.Thr1710=)
c.-17-25617A= (n.-17-25617A=)
c.5764A= (p.Thr1922=)
c.5575A= (p.Thr1859=)
c.3979A= (p.Thr1327=)
n.6115A=
6g.51959940G>ACA3852415PKHD1c.5838C>T (p.Val1946=)
c.5196C>T (p.Val1732=)
c.5127C>T (p.Val1709=)
c.-17-25618C>T (n.-17-25618C>T)
c.5763C>T (p.Val1921=)
c.5574C>T (p.Val1858=)
c.3978C>T (p.Val1326=)
n.6114C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51959940G>CCA450416412PKHD1c.5838C>G (p.Val1946=)
c.5196C>G (p.Val1732=)
c.5127C>G (p.Val1709=)
c.-17-25618C>G (n.-17-25618C>G)
c.5763C>G (p.Val1921=)
c.5574C>G (p.Val1858=)
c.3978C>G (p.Val1326=)
n.6114C>G
6g.51959940G=CA1628608127PKHD1c.5838C= (p.Val1946=)
c.5196C= (p.Val1732=)
c.5127C= (p.Val1709=)
c.-17-25618C= (n.-17-25618C=)
c.5763C= (p.Val1921=)
c.5574C= (p.Val1858=)
c.3978C= (p.Val1326=)
n.6114C=
6g.51959940G>TCA3852414PKHD1c.5838C>A (p.Val1946=)
c.5196C>A (p.Val1732=)
c.5127C>A (p.Val1709=)
c.-17-25618C>A (n.-17-25618C>A)
c.5763C>A (p.Val1921=)
c.5574C>A (p.Val1858=)
c.3978C>A (p.Val1326=)
n.6114C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51959941A>CCA364421475PKHD1c.5837T>G (p.Val1946Gly)
c.5195T>G (p.Val1732Gly)
c.5126T>G (p.Val1709Gly)
c.-17-25619T>G (n.-17-25619T>G)
c.5762T>G (p.Val1921Gly)
c.5573T>G (p.Val1858Gly)
c.3977T>G (p.Val1326Gly)
n.6113T>G
6g.51959941A>GCA364421477PKHD1c.5837T>C (p.Val1946Ala)
c.5195T>C (p.Val1732Ala)
c.5126T>C (p.Val1709Ala)
c.-17-25619T>C (n.-17-25619T>C)
c.5762T>C (p.Val1921Ala)
c.5573T>C (p.Val1858Ala)
c.3977T>C (p.Val1326Ala)
n.6113T>C
6g.51959941A>TCA364421479PKHD1c.5837T>A (p.Val1946Asp)
c.5195T>A (p.Val1732Asp)
c.5126T>A (p.Val1709Asp)
c.-17-25619T>A (n.-17-25619T>A)
c.5762T>A (p.Val1921Asp)
c.5573T>A (p.Val1858Asp)
c.3977T>A (p.Val1326Asp)
n.6113T>A
6g.51959942C>ACA364421482PKHD1c.5836G>T (p.Val1946Phe)
c.5194G>T (p.Val1732Phe)
c.5125G>T (p.Val1709Phe)
c.-17-25620G>T (n.-17-25620G>T)
c.5761G>T (p.Val1921Phe)
c.5572G>T (p.Val1858Phe)
c.3976G>T (p.Val1326Phe)
n.6112G>T
 COSMIC COSMIC
6g.51959942C=CA1628608132PKHD1c.5836G= (p.Val1946=)
c.5194G= (p.Val1732=)
c.5125G= (p.Val1709=)
c.-17-25620G= (n.-17-25620G=)
c.5761G= (p.Val1921=)
c.5572G= (p.Val1858=)
c.3976G= (p.Val1326=)
n.6112G=
6g.51959942C>GCA364421485PKHD1c.5836G>C (p.Val1946Leu)
c.5194G>C (p.Val1732Leu)
c.5125G>C (p.Val1709Leu)
c.-17-25620G>C (n.-17-25620G>C)
c.5761G>C (p.Val1921Leu)
c.5572G>C (p.Val1858Leu)
c.3976G>C (p.Val1326Leu)
n.6112G>C
6g.51959942C>TCA3852416PKHD1c.5836G>A (p.Val1946Ile)
c.5194G>A (p.Val1732Ile)
c.5125G>A (p.Val1709Ile)
c.-17-25620G>A (n.-17-25620G>A)
c.5761G>A (p.Val1921Ile)
c.5572G>A (p.Val1858Ile)
c.3976G>A (p.Val1326Ile)
n.6112G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51959943G>ACA450416413PKHD1c.5835C>T (p.Asn1945=)
c.5193C>T (p.Asn1731=)
c.5124C>T (p.Asn1708=)
c.-17-25621C>T (n.-17-25621C>T)
c.5760C>T (p.Asn1920=)
c.5571C>T (p.Asn1857=)
c.3975C>T (p.Asn1325=)
n.6111C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51959943G>CCA364421488PKHD1c.5835C>G (p.Asn1945Lys)
c.5193C>G (p.Asn1731Lys)
c.5124C>G (p.Asn1708Lys)
c.-17-25621C>G (n.-17-25621C>G)
c.5760C>G (p.Asn1920Lys)
c.5571C>G (p.Asn1857Lys)
c.3975C>G (p.Asn1325Lys)
n.6111C>G
6g.51959943G=CA1628608138PKHD1c.5835C= (p.Asn1945=)
c.5193C= (p.Asn1731=)
c.5124C= (p.Asn1708=)
c.-17-25621C= (n.-17-25621C=)
c.5760C= (p.Asn1920=)
c.5571C= (p.Asn1857=)
c.3975C= (p.Asn1325=)
n.6111C=
6g.51959943G>TCA364421491PKHD1c.5835C>A (p.Asn1945Lys)
c.5193C>A (p.Asn1731Lys)
c.5124C>A (p.Asn1708Lys)
c.-17-25621C>A (n.-17-25621C>A)
c.5760C>A (p.Asn1920Lys)
c.5571C>A (p.Asn1857Lys)
c.3975C>A (p.Asn1325Lys)
n.6111C>A
6g.51959944T>ACA364421493PKHD1c.5834A>T (p.Asn1945Ile)
c.5192A>T (p.Asn1731Ile)
c.5123A>T (p.Asn1708Ile)
c.-17-25622A>T (n.-17-25622A>T)
c.5759A>T (p.Asn1920Ile)
c.5570A>T (p.Asn1857Ile)
c.3974A>T (p.Asn1325Ile)
n.6110A>T
6g.51959944T>CCA364421495PKHD1c.5834A>G (p.Asn1945Ser)
c.5192A>G (p.Asn1731Ser)
c.5123A>G (p.Asn1708Ser)
c.-17-25622A>G (n.-17-25622A>G)
c.5759A>G (p.Asn1920Ser)
c.5570A>G (p.Asn1857Ser)
c.3974A>G (p.Asn1325Ser)
n.6110A>G
 dbSNP gnomAD v4
6g.51959944T>GCA364421496PKHD1c.5834A>C (p.Asn1945Thr)
c.5192A>C (p.Asn1731Thr)
c.5123A>C (p.Asn1708Thr)
c.-17-25622A>C (n.-17-25622A>C)
c.5759A>C (p.Asn1920Thr)
c.5570A>C (p.Asn1857Thr)
c.3974A>C (p.Asn1325Thr)
n.6110A>C
 COSMIC COSMIC
6g.51959944T=CA1628608145PKHD1c.5834A= (p.Asn1945=)
c.5192A= (p.Asn1731=)
c.5123A= (p.Asn1708=)
c.-17-25622A= (n.-17-25622A=)
c.5759A= (p.Asn1920=)
c.5570A= (p.Asn1857=)
c.3974A= (p.Asn1325=)
n.6110A=
6g.51959945T>ACA364421499PKHD1c.5833A>T (p.Asn1945Tyr)
c.5191A>T (p.Asn1731Tyr)
c.5122A>T (p.Asn1708Tyr)
c.-17-25623A>T (n.-17-25623A>T)
c.5758A>T (p.Asn1920Tyr)
c.5569A>T (p.Asn1857Tyr)
c.3973A>T (p.Asn1325Tyr)
n.6109A>T
6g.51959945T>CCA364421500PKHD1c.5833A>G (p.Asn1945Asp)
c.5191A>G (p.Asn1731Asp)
c.5122A>G (p.Asn1708Asp)
c.-17-25623A>G (n.-17-25623A>G)
c.5758A>G (p.Asn1920Asp)
c.5569A>G (p.Asn1857Asp)
c.3973A>G (p.Asn1325Asp)
n.6109A>G
6g.51959945T>GCA364421502PKHD1c.5833A>C (p.Asn1945His)
c.5191A>C (p.Asn1731His)
c.5122A>C (p.Asn1708His)
c.-17-25623A>C (n.-17-25623A>C)
c.5758A>C (p.Asn1920His)
c.5569A>C (p.Asn1857His)
c.3973A>C (p.Asn1325His)
n.6109A>C
6g.51959946G>ACA450416414PKHD1c.5832C>T (p.Asp1944=)
c.5190C>T (p.Asp1730=)
c.5121C>T (p.Asp1707=)
c.-17-25624C>T (n.-17-25624C>T)
c.5757C>T (p.Asp1919=)
c.5568C>T (p.Asp1856=)
c.3972C>T (p.Asp1324=)
n.6108C>T
6g.51959946G>CCA364421505PKHD1c.5832C>G (p.Asp1944Glu)
c.5190C>G (p.Asp1730Glu)
c.5121C>G (p.Asp1707Glu)
c.-17-25624C>G (n.-17-25624C>G)
c.5757C>G (p.Asp1919Glu)
c.5568C>G (p.Asp1856Glu)
c.3972C>G (p.Asp1324Glu)
n.6108C>G
6g.51959946G=CA1628608148PKHD1c.5832C= (p.Asp1944=)
c.5190C= (p.Asp1730=)
c.5121C= (p.Asp1707=)
c.-17-25624C= (n.-17-25624C=)
c.5757C= (p.Asp1919=)
c.5568C= (p.Asp1856=)
c.3972C= (p.Asp1324=)
n.6108C=
6g.51959946G>TCA3852417PKHD1c.5832C>A (p.Asp1944Glu)
c.5190C>A (p.Asp1730Glu)
c.5121C>A (p.Asp1707Glu)
c.-17-25624C>A (n.-17-25624C>A)
c.5757C>A (p.Asp1919Glu)
c.5568C>A (p.Asp1856Glu)
c.3972C>A (p.Asp1324Glu)
n.6108C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51959947T>ACA364421513PKHD1c.5831A>T (p.Asp1944Val)
c.5189A>T (p.Asp1730Val)
c.5120A>T (p.Asp1707Val)
c.-17-25625A>T (n.-17-25625A>T)
c.5756A>T (p.Asp1919Val)
c.5567A>T (p.Asp1856Val)
c.3971A>T (p.Asp1324Val)
n.6107A>T
6g.51959947T>CCA364421511PKHD1c.5831A>G (p.Asp1944Gly)
c.5189A>G (p.Asp1730Gly)
c.5120A>G (p.Asp1707Gly)
c.-17-25625A>G (n.-17-25625A>G)
c.5756A>G (p.Asp1919Gly)
c.5567A>G (p.Asp1856Gly)
c.3971A>G (p.Asp1324Gly)
n.6107A>G
 ClinVar dbSNP
6g.51959947T>GCA364421508PKHD1c.5831A>C (p.Asp1944Ala)
c.5189A>C (p.Asp1730Ala)
c.5120A>C (p.Asp1707Ala)
c.-17-25625A>C (n.-17-25625A>C)
c.5756A>C (p.Asp1919Ala)
c.5567A>C (p.Asp1856Ala)
c.3971A>C (p.Asp1324Ala)
n.6107A>C
6g.51959948C>ACA364421516PKHD1c.5830G>T (p.Asp1944Tyr)
c.5188G>T (p.Asp1730Tyr)
c.5119G>T (p.Asp1707Tyr)
c.-17-25626G>T (n.-17-25626G>T)
c.5755G>T (p.Asp1919Tyr)
c.5566G>T (p.Asp1856Tyr)
c.3970G>T (p.Asp1324Tyr)
n.6106G>T
6g.51959948C=CA1628608154PKHD1c.5830G= (p.Asp1944=)
c.5188G= (p.Asp1730=)
c.5119G= (p.Asp1707=)
c.-17-25626G= (n.-17-25626G=)
c.5755G= (p.Asp1919=)
c.5566G= (p.Asp1856=)
c.3970G= (p.Asp1324=)
n.6106G=
6g.51959948C>GCA364421518PKHD1c.5830G>C (p.Asp1944His)
c.5188G>C (p.Asp1730His)
c.5119G>C (p.Asp1707His)
c.-17-25626G>C (n.-17-25626G>C)
c.5755G>C (p.Asp1919His)
c.5566G>C (p.Asp1856His)
c.3970G>C (p.Asp1324His)
n.6106G>C
6g.51959948C>TCA3852418PKHD1c.5830G>A (p.Asp1944Asn)
c.5188G>A (p.Asp1730Asn)
c.5119G>A (p.Asp1707Asn)
c.-17-25626G>A (n.-17-25626G>A)
c.5755G>A (p.Asp1919Asn)
c.5566G>A (p.Asp1856Asn)
c.3970G>A (p.Asp1324Asn)
n.6106G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51959949G>ACA3852419PKHD1c.5829C>T (p.Gly1943=)
c.5187C>T (p.Gly1729=)
c.5118C>T (p.Gly1706=)
c.-17-25627C>T (n.-17-25627C>T)
c.5754C>T (p.Gly1918=)
c.5565C>T (p.Gly1855=)
c.3969C>T (p.Gly1323=)
n.6105C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51959949G>CCA450416415PKHD1c.5829C>G (p.Gly1943=)
c.5187C>G (p.Gly1729=)
c.5118C>G (p.Gly1706=)
c.-17-25627C>G (n.-17-25627C>G)
c.5754C>G (p.Gly1918=)
c.5565C>G (p.Gly1855=)
c.3969C>G (p.Gly1323=)
n.6105C>G
6g.51959949G=CA1628608163PKHD1c.5829C= (p.Gly1943=)
c.5187C= (p.Gly1729=)
c.5118C= (p.Gly1706=)
c.-17-25627C= (n.-17-25627C=)
c.5754C= (p.Gly1918=)
c.5565C= (p.Gly1855=)
c.3969C= (p.Gly1323=)
n.6105C=
6g.51959949G>TCA450416416PKHD1c.5829C>A (p.Gly1943=)
c.5187C>A (p.Gly1729=)
c.5118C>A (p.Gly1706=)
c.-17-25627C>A (n.-17-25627C>A)
c.5754C>A (p.Gly1918=)
c.5565C>A (p.Gly1855=)
c.3969C>A (p.Gly1323=)
n.6105C>A
 COSMIC COSMIC
6g.51959950C>ACA364421522PKHD1c.5828G>T (p.Gly1943Val)
c.5186G>T (p.Gly1729Val)
c.5117G>T (p.Gly1706Val)
c.-17-25628G>T (n.-17-25628G>T)
c.5753G>T (p.Gly1918Val)
c.5564G>T (p.Gly1855Val)
c.3968G>T (p.Gly1323Val)
n.6104G>T
6g.51959950C=CA1628608169PKHD1c.5828G= (p.Gly1943=)
c.5186G= (p.Gly1729=)
c.5117G= (p.Gly1706=)
c.-17-25628G= (n.-17-25628G=)
c.5753G= (p.Gly1918=)
c.5564G= (p.Gly1855=)
c.3968G= (p.Gly1323=)
n.6104G=
6g.51959950C>GCA364421524PKHD1c.5828G>C (p.Gly1943Ala)
c.5186G>C (p.Gly1729Ala)
c.5117G>C (p.Gly1706Ala)
c.-17-25628G>C (n.-17-25628G>C)
c.5753G>C (p.Gly1918Ala)
c.5564G>C (p.Gly1855Ala)
c.3968G>C (p.Gly1323Ala)
n.6104G>C
6g.51959950C>TCA138922798PKHD1c.5828G>A (p.Gly1943Asp)
c.5186G>A (p.Gly1729Asp)
c.5117G>A (p.Gly1706Asp)
c.-17-25628G>A (n.-17-25628G>A)
c.5753G>A (p.Gly1918Asp)
c.5564G>A (p.Gly1855Asp)
c.3968G>A (p.Gly1323Asp)
n.6104G>A
 dbSNP gnomAD v4 COSMIC COSMIC
6g.51959951C>ACA364421527PKHD1c.5827G>T (p.Gly1943Cys)
c.5185G>T (p.Gly1729Cys)
c.5116G>T (p.Gly1706Cys)
c.-17-25629G>T (n.-17-25629G>T)
c.5752G>T (p.Gly1918Cys)
c.5563G>T (p.Gly1855Cys)
c.3967G>T (p.Gly1323Cys)
n.6103G>T
6g.51959951C=CA1628608176PKHD1c.5827G= (p.Gly1943=)
c.5185G= (p.Gly1729=)
c.5116G= (p.Gly1706=)
c.-17-25629G= (n.-17-25629G=)
c.5752G= (p.Gly1918=)
c.5563G= (p.Gly1855=)
c.3967G= (p.Gly1323=)
n.6103G=
6g.51959951C>GCA364421530PKHD1c.5827G>C (p.Gly1943Arg)
c.5185G>C (p.Gly1729Arg)
c.5116G>C (p.Gly1706Arg)
c.-17-25629G>C (n.-17-25629G>C)
c.5752G>C (p.Gly1918Arg)
c.5563G>C (p.Gly1855Arg)
c.3967G>C (p.Gly1323Arg)
n.6103G>C
6g.51959951C>TCA3852420PKHD1c.5827G>A (p.Gly1943Ser)
c.5185G>A (p.Gly1729Ser)
c.5116G>A (p.Gly1706Ser)
c.-17-25629G>A (n.-17-25629G>A)
c.5752G>A (p.Gly1918Ser)
c.5563G>A (p.Gly1855Ser)
c.3967G>A (p.Gly1323Ser)
n.6103G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51959952A=CA1628608216PKHD1c.5826T= (p.Asp1942=)
c.5184T= (p.Asp1728=)
c.5115T= (p.Asp1705=)
c.-17-25630T= (n.-17-25630T=)
c.5751T= (p.Asp1917=)
c.5562T= (p.Asp1854=)
c.3966T= (p.Asp1322=)
n.6102T=
6g.51959952A>CCA364421534PKHD1c.5826T>G (p.Asp1942Glu)
c.5184T>G (p.Asp1728Glu)
c.5115T>G (p.Asp1705Glu)
c.-17-25630T>G (n.-17-25630T>G)
c.5751T>G (p.Asp1917Glu)
c.5562T>G (p.Asp1854Glu)
c.3966T>G (p.Asp1322Glu)
n.6102T>G
6g.51959952A>GCA450416417PKHD1c.5826T>C (p.Asp1942=)
c.5184T>C (p.Asp1728=)
c.5115T>C (p.Asp1705=)
c.-17-25630T>C (n.-17-25630T>C)
c.5751T>C (p.Asp1917=)
c.5562T>C (p.Asp1854=)
c.3966T>C (p.Asp1322=)
n.6102T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51959952A>TCA364421537PKHD1c.5826T>A (p.Asp1942Glu)
c.5184T>A (p.Asp1728Glu)
c.5115T>A (p.Asp1705Glu)
c.-17-25630T>A (n.-17-25630T>A)
c.5751T>A (p.Asp1917Glu)
c.5562T>A (p.Asp1854Glu)
c.3966T>A (p.Asp1322Glu)
n.6102T>A
6g.51959953T>ACA364421539PKHD1c.5825A>T (p.Asp1942Val)
c.5183A>T (p.Asp1728Val)
c.5114A>T (p.Asp1705Val)
c.-17-25631A>T (n.-17-25631A>T)
c.5750A>T (p.Asp1917Val)
c.5561A>T (p.Asp1854Val)
c.3965A>T (p.Asp1322Val)
n.6101A>T
6g.51959953T>CCA364421541PKHD1c.5825A>G (p.Asp1942Gly)
c.5183A>G (p.Asp1728Gly)
c.5114A>G (p.Asp1705Gly)
c.-17-25631A>G (n.-17-25631A>G)
c.5750A>G (p.Asp1917Gly)
c.5561A>G (p.Asp1854Gly)
c.3965A>G (p.Asp1322Gly)
n.6101A>G
 ClinVar dbSNP gnomAD v4
6g.51959953T>GCA364421542PKHD1c.5825A>C (p.Asp1942Ala)
c.5183A>C (p.Asp1728Ala)
c.5114A>C (p.Asp1705Ala)
c.-17-25631A>C (n.-17-25631A>C)
c.5750A>C (p.Asp1917Ala)
c.5561A>C (p.Asp1854Ala)
c.3965A>C (p.Asp1322Ala)
n.6101A>C
6g.51959953T=CA1628608224PKHD1c.5825A= (p.Asp1942=)
c.5183A= (p.Asp1728=)
c.5114A= (p.Asp1705=)
c.-17-25631A= (n.-17-25631A=)
c.5750A= (p.Asp1917=)
c.5561A= (p.Asp1854=)
c.3965A= (p.Asp1322=)
n.6101A=
6g.51959954C>ACA364421547PKHD1c.5824G>T (p.Asp1942Tyr)
c.5182G>T (p.Asp1728Tyr)
c.5113G>T (p.Asp1705Tyr)
c.-17-25632G>T (n.-17-25632G>T)
c.5749G>T (p.Asp1917Tyr)
c.5560G>T (p.Asp1854Tyr)
c.3964G>T (p.Asp1322Tyr)
n.6100G>T
6g.51959954C>GCA364421543PKHD1c.5824G>C (p.Asp1942His)
c.5182G>C (p.Asp1728His)
c.5113G>C (p.Asp1705His)
c.-17-25632G>C (n.-17-25632G>C)
c.5749G>C (p.Asp1917His)
c.5560G>C (p.Asp1854His)
c.3964G>C (p.Asp1322His)
n.6100G>C
6g.51959954C>TCA364421545PKHD1c.5824G>A (p.Asp1942Asn)
c.5182G>A (p.Asp1728Asn)
c.5113G>A (p.Asp1705Asn)
c.-17-25632G>A (n.-17-25632G>A)
c.5749G>A (p.Asp1917Asn)
c.5560G>A (p.Asp1854Asn)
c.3964G>A (p.Asp1322Asn)
n.6100G>A
 gnomAD v4
6g.51959955T>ACA364421550PKHD1c.5823A>T (p.Gln1941His)
c.5181A>T (p.Gln1727His)
c.5112A>T (p.Gln1704His)
c.-17-25633A>T (n.-17-25633A>T)
c.5748A>T (p.Gln1916His)
c.5559A>T (p.Gln1853His)
c.3963A>T (p.Gln1321His)
n.6099A>T
6g.51959955T>CCA450416418PKHD1c.5823A>G (p.Gln1941=)
c.5181A>G (p.Gln1727=)
c.5112A>G (p.Gln1704=)
c.-17-25633A>G (n.-17-25633A>G)
c.5748A>G (p.Gln1916=)
c.5559A>G (p.Gln1853=)
c.3963A>G (p.Gln1321=)
n.6099A>G
6g.51959955T>GCA364421554PKHD1c.5823A>C (p.Gln1941His)
c.5181A>C (p.Gln1727His)
c.5112A>C (p.Gln1704His)
c.-17-25633A>C (n.-17-25633A>C)
c.5748A>C (p.Gln1916His)
c.5559A>C (p.Gln1853His)
c.3963A>C (p.Gln1321His)
n.6099A>C
6g.51959956T>ACA364421557PKHD1c.5822A>T (p.Gln1941Leu)
c.5180A>T (p.Gln1727Leu)
c.5111A>T (p.Gln1704Leu)
c.-17-25634A>T (n.-17-25634A>T)
c.5747A>T (p.Gln1916Leu)
c.5558A>T (p.Gln1853Leu)
c.3962A>T (p.Gln1321Leu)
n.6098A>T
6g.51959956T>CCA364421563PKHD1c.5822A>G (p.Gln1941Arg)
c.5180A>G (p.Gln1727Arg)
c.5111A>G (p.Gln1704Arg)
c.-17-25634A>G (n.-17-25634A>G)
c.5747A>G (p.Gln1916Arg)
c.5558A>G (p.Gln1853Arg)
c.3962A>G (p.Gln1321Arg)
n.6098A>G
 dbSNP
6g.51959956T>GCA364421564PKHD1c.5822A>C (p.Gln1941Pro)
c.5180A>C (p.Gln1727Pro)
c.5111A>C (p.Gln1704Pro)
c.-17-25634A>C (n.-17-25634A>C)
c.5747A>C (p.Gln1916Pro)
c.5558A>C (p.Gln1853Pro)
c.3962A>C (p.Gln1321Pro)
n.6098A>C
6g.51959956T=CA1628608231PKHD1c.5822A= (p.Gln1941=)
c.5180A= (p.Gln1727=)
c.5111A= (p.Gln1704=)
c.-17-25634A= (n.-17-25634A=)
c.5747A= (p.Gln1916=)
c.5558A= (p.Gln1853=)
c.3962A= (p.Gln1321=)
n.6098A=
6g.51959957G>ACA364421565PKHD1c.5821C>T (p.Gln1941Ter)
c.5179C>T (p.Gln1727Ter)
c.5110C>T (p.Gln1704Ter)
c.-17-25635C>T (n.-17-25635C>T)
c.5746C>T (p.Gln1916Ter)
c.5557C>T (p.Gln1853Ter)
c.3961C>T (p.Gln1321Ter)
n.6097C>T
6g.51959957G>CCA364421568PKHD1c.5821C>G (p.Gln1941Glu)
c.5179C>G (p.Gln1727Glu)
c.5110C>G (p.Gln1704Glu)
c.-17-25635C>G (n.-17-25635C>G)
c.5746C>G (p.Gln1916Glu)
c.5557C>G (p.Gln1853Glu)
c.3961C>G (p.Gln1321Glu)
n.6097C>G
6g.51959957G>TCA364421570PKHD1c.5821C>A (p.Gln1941Lys)
c.5179C>A (p.Gln1727Lys)
c.5110C>A (p.Gln1704Lys)
c.-17-25635C>A (n.-17-25635C>A)
c.5746C>A (p.Gln1916Lys)
c.5557C>A (p.Gln1853Lys)
c.3961C>A (p.Gln1321Lys)
n.6097C>A
6g.51959958T>ACA450416419PKHD1c.5820A>T (p.Pro1940=)
c.5178A>T (p.Pro1726=)
c.5109A>T (p.Pro1703=)
c.-17-25636A>T (n.-17-25636A>T)
c.5745A>T (p.Pro1915=)
c.5556A>T (p.Pro1852=)
c.3960A>T (p.Pro1320=)
n.6096A>T
6g.51959958T>CCA450416421PKHD1c.5820A>G (p.Pro1940=)
c.5178A>G (p.Pro1726=)
c.5109A>G (p.Pro1703=)
c.-17-25636A>G (n.-17-25636A>G)
c.5745A>G (p.Pro1915=)
c.5556A>G (p.Pro1852=)
c.3960A>G (p.Pro1320=)
n.6096A>G
 dbSNP
6g.51959958T>GCA450416420PKHD1c.5820A>C (p.Pro1940=)
c.5178A>C (p.Pro1726=)
c.5109A>C (p.Pro1703=)
c.-17-25636A>C (n.-17-25636A>C)
c.5745A>C (p.Pro1915=)
c.5556A>C (p.Pro1852=)
c.3960A>C (p.Pro1320=)
n.6096A>C
6g.51959958T=CA1628608234PKHD1c.5820A= (p.Pro1940=)
c.5178A= (p.Pro1726=)
c.5109A= (p.Pro1703=)
c.-17-25636A= (n.-17-25636A=)
c.5745A= (p.Pro1915=)
c.5556A= (p.Pro1852=)
c.3960A= (p.Pro1320=)
n.6096A=
6g.51959959G>ACA364421572PKHD1c.5819C>T (p.Pro1940Leu)
c.5177C>T (p.Pro1726Leu)
c.5108C>T (p.Pro1703Leu)
c.-17-25637C>T (n.-17-25637C>T)
c.5744C>T (p.Pro1915Leu)
c.5555C>T (p.Pro1852Leu)
c.3959C>T (p.Pro1320Leu)
n.6095C>T
6g.51959959G>CCA364421578PKHD1c.5819C>G (p.Pro1940Arg)
c.5177C>G (p.Pro1726Arg)
c.5108C>G (p.Pro1703Arg)
c.-17-25637C>G (n.-17-25637C>G)
c.5744C>G (p.Pro1915Arg)
c.5555C>G (p.Pro1852Arg)
c.3959C>G (p.Pro1320Arg)
n.6095C>G
6g.51959959G>TCA364421580PKHD1c.5819C>A (p.Pro1940Gln)
c.5177C>A (p.Pro1726Gln)
c.5108C>A (p.Pro1703Gln)
c.-17-25637C>A (n.-17-25637C>A)
c.5744C>A (p.Pro1915Gln)
c.5555C>A (p.Pro1852Gln)
c.3959C>A (p.Pro1320Gln)
n.6095C>A
6g.51959959_51959995delCA2499218370PKHD1c.5783_5819del (p.Trp1928TyrfsTer?)
c.5141_5177del (p.Trp1714TyrfsTer?)
c.5072_5108del (p.Trp1691TyrfsTer?)
c.-17-25673_-17-25637del (n.-17-25673_-17-25637del)
c.5708_5744del (p.Trp1903TyrfsTer?)
c.5519_5555del (p.Trp1840TyrfsTer?)
c.3923_3959del (p.Trp1308TyrfsTer?)
n.6059_6095del
 dbSNP
6g.51959960G>ACA364421585PKHD1c.5818C>T (p.Pro1940Ser)
c.5176C>T (p.Pro1726Ser)
c.5107C>T (p.Pro1703Ser)
c.-17-25638C>T (n.-17-25638C>T)
c.5743C>T (p.Pro1915Ser)
c.5554C>T (p.Pro1852Ser)
c.3958C>T (p.Pro1320Ser)
n.6094C>T
6g.51959960G>CCA364421583PKHD1c.5818C>G (p.Pro1940Ala)
c.5176C>G (p.Pro1726Ala)
c.5107C>G (p.Pro1703Ala)
c.-17-25638C>G (n.-17-25638C>G)
c.5743C>G (p.Pro1915Ala)
c.5554C>G (p.Pro1852Ala)
c.3958C>G (p.Pro1320Ala)
n.6094C>G
6g.51959960G>TCA364421581PKHD1c.5818C>A (p.Pro1940Thr)
c.5176C>A (p.Pro1726Thr)
c.5107C>A (p.Pro1703Thr)
c.-17-25638C>A (n.-17-25638C>A)
c.5743C>A (p.Pro1915Thr)
c.5554C>A (p.Pro1852Thr)
c.3958C>A (p.Pro1320Thr)
n.6094C>A
6g.51959961C>ACA450416424PKHD1c.5817G>T (p.Leu1939=)
c.5175G>T (p.Leu1725=)
c.5106G>T (p.Leu1702=)
c.-17-25639G>T (n.-17-25639G>T)
c.5742G>T (p.Leu1914=)
c.5553G>T (p.Leu1851=)
c.3957G>T (p.Leu1319=)
n.6093G>T
6g.51959961C=CA1628608240PKHD1c.5817G= (p.Leu1939=)
c.5175G= (p.Leu1725=)
c.5106G= (p.Leu1702=)
c.-17-25639G= (n.-17-25639G=)
c.5742G= (p.Leu1914=)
c.5553G= (p.Leu1851=)
c.3957G= (p.Leu1319=)
n.6093G=
6g.51959961C>GCA450416423PKHD1c.5817G>C (p.Leu1939=)
c.5175G>C (p.Leu1725=)
c.5106G>C (p.Leu1702=)
c.-17-25639G>C (n.-17-25639G>C)
c.5742G>C (p.Leu1914=)
c.5553G>C (p.Leu1851=)
c.3957G>C (p.Leu1319=)
n.6093G>C
 ClinVar dbSNP
6g.51959961C>TCA450416422PKHD1c.5817G>A (p.Leu1939=)
c.5175G>A (p.Leu1725=)
c.5106G>A (p.Leu1702=)
c.-17-25639G>A (n.-17-25639G>A)
c.5742G>A (p.Leu1914=)
c.5553G>A (p.Leu1851=)
c.3957G>A (p.Leu1319=)
n.6093G>A
 ClinVar dbSNP gnomAD v4
6g.51959962A>CCA364421590PKHD1c.5816T>G (p.Leu1939Arg)
c.5174T>G (p.Leu1725Arg)
c.5105T>G (p.Leu1702Arg)
c.-17-25640T>G (n.-17-25640T>G)
c.5741T>G (p.Leu1914Arg)
c.5552T>G (p.Leu1851Arg)
c.3956T>G (p.Leu1319Arg)
n.6092T>G
6g.51959962A>GCA364421587PKHD1c.5816T>C (p.Leu1939Pro)
c.5174T>C (p.Leu1725Pro)
c.5105T>C (p.Leu1702Pro)
c.-17-25640T>C (n.-17-25640T>C)
c.5741T>C (p.Leu1914Pro)
c.5552T>C (p.Leu1851Pro)
c.3956T>C (p.Leu1319Pro)
n.6092T>C
6g.51959962A>TCA364421588PKHD1c.5816T>A (p.Leu1939Gln)
c.5174T>A (p.Leu1725Gln)
c.5105T>A (p.Leu1702Gln)
c.-17-25640T>A (n.-17-25640T>A)
c.5741T>A (p.Leu1914Gln)
c.5552T>A (p.Leu1851Gln)
c.3956T>A (p.Leu1319Gln)
n.6092T>A
 gnomAD v4
6g.51959963G>ACA450416425PKHD1c.5815C>T (p.Leu1939=)
c.5173C>T (p.Leu1725=)
c.5104C>T (p.Leu1702=)
c.-17-25641C>T (n.-17-25641C>T)
c.5740C>T (p.Leu1914=)
c.5551C>T (p.Leu1851=)
c.3955C>T (p.Leu1319=)
n.6091C>T
 ClinVar dbSNP
6g.51959963G>CCA364421591PKHD1c.5815C>G (p.Leu1939Val)
c.5173C>G (p.Leu1725Val)
c.5104C>G (p.Leu1702Val)
c.-17-25641C>G (n.-17-25641C>G)
c.5740C>G (p.Leu1914Val)
c.5551C>G (p.Leu1851Val)
c.3955C>G (p.Leu1319Val)
n.6091C>G
 gnomAD v4
6g.51959963G=CA1628608248PKHD1c.5815C= (p.Leu1939=)
c.5173C= (p.Leu1725=)
c.5104C= (p.Leu1702=)
c.-17-25641C= (n.-17-25641C=)
c.5740C= (p.Leu1914=)
c.5551C= (p.Leu1851=)
c.3955C= (p.Leu1319=)
n.6091C=
6g.51959963G>TCA364421593PKHD1c.5815C>A (p.Leu1939Met)
c.5173C>A (p.Leu1725Met)
c.5104C>A (p.Leu1702Met)
c.-17-25641C>A (n.-17-25641C>A)
c.5740C>A (p.Leu1914Met)
c.5551C>A (p.Leu1851Met)
c.3955C>A (p.Leu1319Met)
n.6091C>A
6g.51959964C>ACA364421594PKHD1c.5814G>T (p.Arg1938Ser)
c.5172G>T (p.Arg1724Ser)
c.5103G>T (p.Arg1701Ser)
c.-17-25642G>T (n.-17-25642G>T)
c.5739G>T (p.Arg1913Ser)
c.5550G>T (p.Arg1850Ser)
c.3954G>T (p.Arg1318Ser)
n.6090G>T
 dbSNP
6g.51959964C=CA1628608255PKHD1c.5814G= (p.Arg1938=)
c.5172G= (p.Arg1724=)
c.5103G= (p.Arg1701=)
c.-17-25642G= (n.-17-25642G=)
c.5739G= (p.Arg1913=)
c.5550G= (p.Arg1850=)
c.3954G= (p.Arg1318=)
n.6090G=
6g.51959964C>GCA364421596PKHD1c.5814G>C (p.Arg1938Ser)
c.5172G>C (p.Arg1724Ser)
c.5103G>C (p.Arg1701Ser)
c.-17-25642G>C (n.-17-25642G>C)
c.5739G>C (p.Arg1913Ser)
c.5550G>C (p.Arg1850Ser)
c.3954G>C (p.Arg1318Ser)
n.6090G>C
 dbSNP
6g.51959964C>TCA3852421PKHD1c.5814G>A (p.Arg1938=)
c.5172G>A (p.Arg1724=)
c.5103G>A (p.Arg1701=)
c.-17-25642G>A (n.-17-25642G>A)
c.5739G>A (p.Arg1913=)
c.5550G>A (p.Arg1850=)
c.3954G>A (p.Arg1318=)
n.6090G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51959965C>ACA364421598PKHD1c.5813G>T (p.Arg1938Met)
c.5171G>T (p.Arg1724Met)
c.5102G>T (p.Arg1701Met)
c.-17-25643G>T (n.-17-25643G>T)
c.5738G>T (p.Arg1913Met)
c.5549G>T (p.Arg1850Met)
c.3953G>T (p.Arg1318Met)
n.6089G>T
6g.51959965C>GCA364421600PKHD1c.5813G>C (p.Arg1938Thr)
c.5171G>C (p.Arg1724Thr)
c.5102G>C (p.Arg1701Thr)
c.-17-25643G>C (n.-17-25643G>C)
c.5738G>C (p.Arg1913Thr)
c.5549G>C (p.Arg1850Thr)
c.3953G>C (p.Arg1318Thr)
n.6089G>C
6g.51959965C>TCA364421599PKHD1c.5813G>A (p.Arg1938Lys)
c.5171G>A (p.Arg1724Lys)
c.5102G>A (p.Arg1701Lys)
c.-17-25643G>A (n.-17-25643G>A)
c.5738G>A (p.Arg1913Lys)
c.5549G>A (p.Arg1850Lys)
c.3953G>A (p.Arg1318Lys)
n.6089G>A
6g.51959966T>ACA364421602PKHD1c.5812A>T (p.Arg1938Trp)
c.5170A>T (p.Arg1724Trp)
c.5101A>T (p.Arg1701Trp)
c.-17-25644A>T (n.-17-25644A>T)
c.5737A>T (p.Arg1913Trp)
c.5548A>T (p.Arg1850Trp)
c.3952A>T (p.Arg1318Trp)
n.6088A>T
6g.51959966T>CCA364421603PKHD1c.5812A>G (p.Arg1938Gly)
c.5170A>G (p.Arg1724Gly)
c.5101A>G (p.Arg1701Gly)
c.-17-25644A>G (n.-17-25644A>G)
c.5737A>G (p.Arg1913Gly)
c.5548A>G (p.Arg1850Gly)
c.3952A>G (p.Arg1318Gly)
n.6088A>G
6g.51959966T>GCA450416426PKHD1c.5812A>C (p.Arg1938=)
c.5170A>C (p.Arg1724=)
c.5101A>C (p.Arg1701=)
c.-17-25644A>C (n.-17-25644A>C)
c.5737A>C (p.Arg1913=)
c.5548A>C (p.Arg1850=)
c.3952A>C (p.Arg1318=)
n.6088A>C
 ClinVar dbSNP gnomAD v4
6g.51959968dupCA2679082515PKHD1c.5812dup (p.Arg1938LysfsTer22)
c.5170dup (p.Arg1724LysfsTer22)
c.5101dup (p.Arg1701LysfsTer22)
c.-17-25644dup (n.-17-25644dup)
c.5737dup (p.Arg1913LysfsTer22)
c.5548dup (p.Arg1850LysfsTer22)
c.3952dup (p.Arg1318LysfsTer22)
n.6088dup
 gnomAD v4
6g.51959967T>ACA364421604PKHD1c.5811A>T (p.Glu1937Asp)
c.5169A>T (p.Glu1723Asp)
c.5100A>T (p.Glu1700Asp)
c.-17-25645A>T (n.-17-25645A>T)
c.5736A>T (p.Glu1912Asp)
c.5547A>T (p.Glu1849Asp)
c.3951A>T (p.Glu1317Asp)
n.6087A>T
6g.51959967T>CCA450416427PKHD1c.5811A>G (p.Glu1937=)
c.5169A>G (p.Glu1723=)
c.5100A>G (p.Glu1700=)
c.-17-25645A>G (n.-17-25645A>G)
c.5736A>G (p.Glu1912=)
c.5547A>G (p.Glu1849=)
c.3951A>G (p.Glu1317=)
n.6087A>G
 gnomAD v4
6g.51959967T>GCA364421606PKHD1c.5811A>C (p.Glu1937Asp)
c.5169A>C (p.Glu1723Asp)
c.5100A>C (p.Glu1700Asp)
c.-17-25645A>C (n.-17-25645A>C)
c.5736A>C (p.Glu1912Asp)
c.5547A>C (p.Glu1849Asp)
c.3951A>C (p.Glu1317Asp)
n.6087A>C
6g.51959968T>ACA364421608PKHD1c.5810A>T (p.Glu1937Val)
c.5168A>T (p.Glu1723Val)
c.5099A>T (p.Glu1700Val)
c.-17-25646A>T (n.-17-25646A>T)
c.5735A>T (p.Glu1912Val)
c.5546A>T (p.Glu1849Val)
c.3950A>T (p.Glu1317Val)
n.6086A>T
6g.51959968T>CCA364421611PKHD1c.5810A>G (p.Glu1937Gly)
c.5168A>G (p.Glu1723Gly)
c.5099A>G (p.Glu1700Gly)
c.-17-25646A>G (n.-17-25646A>G)
c.5735A>G (p.Glu1912Gly)
c.5546A>G (p.Glu1849Gly)
c.3950A>G (p.Glu1317Gly)
n.6086A>G
6g.51959968T>GCA364421610PKHD1c.5810A>C (p.Glu1937Ala)
c.5168A>C (p.Glu1723Ala)
c.5099A>C (p.Glu1700Ala)
c.-17-25646A>C (n.-17-25646A>C)
c.5735A>C (p.Glu1912Ala)
c.5546A>C (p.Glu1849Ala)
c.3950A>C (p.Glu1317Ala)
n.6086A>C
6g.51959969C>ACA364421613PKHD1c.5809G>T (p.Glu1937Ter)
c.5167G>T (p.Glu1723Ter)
c.5098G>T (p.Glu1700Ter)
c.-17-25647G>T (n.-17-25647G>T)
c.5734G>T (p.Glu1912Ter)
c.5545G>T (p.Glu1849Ter)
c.3949G>T (p.Glu1317Ter)
n.6085G>T
6g.51959969C=CA1628608263PKHD1c.5809G= (p.Glu1937=)
c.5167G= (p.Glu1723=)
c.5098G= (p.Glu1700=)
c.-17-25647G= (n.-17-25647G=)
c.5734G= (p.Glu1912=)
c.5545G= (p.Glu1849=)
c.3949G= (p.Glu1317=)
n.6085G=
6g.51959969C>GCA364421614PKHD1c.5809G>C (p.Glu1937Gln)
c.5167G>C (p.Glu1723Gln)
c.5098G>C (p.Glu1700Gln)
c.-17-25647G>C (n.-17-25647G>C)
c.5734G>C (p.Glu1912Gln)
c.5545G>C (p.Glu1849Gln)
c.3949G>C (p.Glu1317Gln)
n.6085G>C
6g.51959969C>TCA364421616PKHD1c.5809G>A (p.Glu1937Lys)
c.5167G>A (p.Glu1723Lys)
c.5098G>A (p.Glu1700Lys)
c.-17-25647G>A (n.-17-25647G>A)
c.5734G>A (p.Glu1912Lys)
c.5545G>A (p.Glu1849Lys)
c.3949G>A (p.Glu1317Lys)
n.6085G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51959969_51959970delCA2580075463PKHD1c.5808_5809del (p.Glu1937LysfsTer22)
c.5166_5167del (p.Glu1723LysfsTer22)
c.5097_5098del (p.Glu1700LysfsTer22)
c.-17-25648_-17-25647del (n.-17-25648_-17-25647del)
c.5733_5734del (p.Glu1912LysfsTer22)
c.5544_5545del (p.Glu1849LysfsTer22)
c.3948_3949del (p.Glu1317LysfsTer22)
n.6084_6085del
 ClinVar
6g.51959970A=CA1628608280PKHD1c.5808T= (p.Pro1936=)
c.5166T= (p.Pro1722=)
c.5097T= (p.Pro1699=)
c.-17-25648T= (n.-17-25648T=)
c.5733T= (p.Pro1911=)
c.5544T= (p.Pro1848=)
c.3948T= (p.Pro1316=)
n.6084T=
6g.51959970A>CCA138922809PKHD1c.5808T>G (p.Pro1936=)
c.5166T>G (p.Pro1722=)
c.5097T>G (p.Pro1699=)
c.-17-25648T>G (n.-17-25648T>G)
c.5733T>G (p.Pro1911=)
c.5544T>G (p.Pro1848=)
c.3948T>G (p.Pro1316=)
n.6084T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51959970A>GCA450416428PKHD1c.5808T>C (p.Pro1936=)
c.5166T>C (p.Pro1722=)
c.5097T>C (p.Pro1699=)
c.-17-25648T>C (n.-17-25648T>C)
c.5733T>C (p.Pro1911=)
c.5544T>C (p.Pro1848=)
c.3948T>C (p.Pro1316=)
n.6084T>C
6g.51959970A>TCA450416429PKHD1c.5808T>A (p.Pro1936=)
c.5166T>A (p.Pro1722=)
c.5097T>A (p.Pro1699=)
c.-17-25648T>A (n.-17-25648T>A)
c.5733T>A (p.Pro1911=)
c.5544T>A (p.Pro1848=)
c.3948T>A (p.Pro1316=)
n.6084T>A
6g.51959971G>ACA364421617PKHD1c.5807C>T (p.Pro1936Leu)
c.5165C>T (p.Pro1722Leu)
c.5096C>T (p.Pro1699Leu)
c.-17-25649C>T (n.-17-25649C>T)
c.5732C>T (p.Pro1911Leu)
c.5543C>T (p.Pro1848Leu)
c.3947C>T (p.Pro1316Leu)
n.6083C>T
6g.51959971G>CCA364421619PKHD1c.5807C>G (p.Pro1936Arg)
c.5165C>G (p.Pro1722Arg)
c.5096C>G (p.Pro1699Arg)
c.-17-25649C>G (n.-17-25649C>G)
c.5732C>G (p.Pro1911Arg)
c.5543C>G (p.Pro1848Arg)
c.3947C>G (p.Pro1316Arg)
n.6083C>G
6g.51959971G>TCA364421620PKHD1c.5807C>A (p.Pro1936His)
c.5165C>A (p.Pro1722His)
c.5096C>A (p.Pro1699His)
c.-17-25649C>A (n.-17-25649C>A)
c.5732C>A (p.Pro1911His)
c.5543C>A (p.Pro1848His)
c.3947C>A (p.Pro1316His)
n.6083C>A
6g.51959972G>ACA364421622PKHD1c.5806C>T (p.Pro1936Ser)
c.5164C>T (p.Pro1722Ser)
c.5095C>T (p.Pro1699Ser)
c.-17-25650C>T (n.-17-25650C>T)
c.5731C>T (p.Pro1911Ser)
c.5542C>T (p.Pro1848Ser)
c.3946C>T (p.Pro1316Ser)
n.6082C>T
6g.51959972G>CCA364421623PKHD1c.5806C>G (p.Pro1936Ala)
c.5164C>G (p.Pro1722Ala)
c.5095C>G (p.Pro1699Ala)
c.-17-25650C>G (n.-17-25650C>G)
c.5731C>G (p.Pro1911Ala)
c.5542C>G (p.Pro1848Ala)
c.3946C>G (p.Pro1316Ala)
n.6082C>G
6g.51959972G>TCA364421625PKHD1c.5806C>A (p.Pro1936Thr)
c.5164C>A (p.Pro1722Thr)
c.5095C>A (p.Pro1699Thr)
c.-17-25650C>A (n.-17-25650C>A)
c.5731C>A (p.Pro1911Thr)
c.5542C>A (p.Pro1848Thr)
c.3946C>A (p.Pro1316Thr)
n.6082C>A
6g.51959973A=CA1628608286PKHD1c.5805T= (p.Phe1935=)
c.5163T= (p.Phe1721=)
c.5094T= (p.Phe1698=)
c.-17-25651T= (n.-17-25651T=)
c.5730T= (p.Phe1910=)
c.5541T= (p.Phe1847=)
c.3945T= (p.Phe1315=)
n.6081T=
6g.51959973A>CCA364421626PKHD1c.5805T>G (p.Phe1935Leu)
c.5163T>G (p.Phe1721Leu)
c.5094T>G (p.Phe1698Leu)
c.-17-25651T>G (n.-17-25651T>G)
c.5730T>G (p.Phe1910Leu)
c.5541T>G (p.Phe1847Leu)
c.3945T>G (p.Phe1315Leu)
n.6081T>G
6g.51959973A>GCA450416430PKHD1c.5805T>C (p.Phe1935=)
c.5163T>C (p.Phe1721=)
c.5094T>C (p.Phe1698=)
c.-17-25651T>C (n.-17-25651T>C)
c.5730T>C (p.Phe1910=)
c.5541T>C (p.Phe1847=)
c.3945T>C (p.Phe1315=)
n.6081T>C
 dbSNP gnomAD v2 gnomAD v4
6g.51959973A>TCA364421627PKHD1c.5805T>A (p.Phe1935Leu)
c.5163T>A (p.Phe1721Leu)
c.5094T>A (p.Phe1698Leu)
c.-17-25651T>A (n.-17-25651T>A)
c.5730T>A (p.Phe1910Leu)
c.5541T>A (p.Phe1847Leu)
c.3945T>A (p.Phe1315Leu)
n.6081T>A
6g.51959974A>CCA364421630PKHD1c.5804T>G (p.Phe1935Cys)
c.5162T>G (p.Phe1721Cys)
c.5093T>G (p.Phe1698Cys)
c.-17-25652T>G (n.-17-25652T>G)
c.5729T>G (p.Phe1910Cys)
c.5540T>G (p.Phe1847Cys)
c.3944T>G (p.Phe1315Cys)
n.6080T>G
 COSMIC COSMIC
6g.51959974A>GCA364421632PKHD1c.5804T>C (p.Phe1935Ser)
c.5162T>C (p.Phe1721Ser)
c.5093T>C (p.Phe1698Ser)
c.-17-25652T>C (n.-17-25652T>C)
c.5729T>C (p.Phe1910Ser)
c.5540T>C (p.Phe1847Ser)
c.3944T>C (p.Phe1315Ser)
n.6080T>C
6g.51959974A>TCA364421629PKHD1c.5804T>A (p.Phe1935Tyr)
c.5162T>A (p.Phe1721Tyr)
c.5093T>A (p.Phe1698Tyr)
c.-17-25652T>A (n.-17-25652T>A)
c.5729T>A (p.Phe1910Tyr)
c.5540T>A (p.Phe1847Tyr)
c.3944T>A (p.Phe1315Tyr)
n.6080T>A
6g.51959975A=CA1628608301PKHD1c.5803T= (p.Phe1935=)
c.5161T= (p.Phe1721=)
c.5092T= (p.Phe1698=)
c.-17-25653T= (n.-17-25653T=)
c.5728T= (p.Phe1910=)
c.5539T= (p.Phe1847=)
c.3943T= (p.Phe1315=)
n.6079T=
6g.51959975A>CCA3852422PKHD1c.5803T>G (p.Phe1935Val)
c.5161T>G (p.Phe1721Val)
c.5092T>G (p.Phe1698Val)
c.-17-25653T>G (n.-17-25653T>G)
c.5728T>G (p.Phe1910Val)
c.5539T>G (p.Phe1847Val)
c.3943T>G (p.Phe1315Val)
n.6079T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51959975A>GCA364421636PKHD1c.5803T>C (p.Phe1935Leu)
c.5161T>C (p.Phe1721Leu)
c.5092T>C (p.Phe1698Leu)
c.-17-25653T>C (n.-17-25653T>C)
c.5728T>C (p.Phe1910Leu)
c.5539T>C (p.Phe1847Leu)
c.3943T>C (p.Phe1315Leu)
n.6079T>C
6g.51959975A>TCA364421635PKHD1c.5803T>A (p.Phe1935Ile)
c.5161T>A (p.Phe1721Ile)
c.5092T>A (p.Phe1698Ile)
c.-17-25653T>A (n.-17-25653T>A)
c.5728T>A (p.Phe1910Ile)
c.5539T>A (p.Phe1847Ile)
c.3943T>A (p.Phe1315Ile)
n.6079T>A
6g.51959976C>ACA364421638PKHD1c.5802G>T (p.Trp1934Cys)
c.5160G>T (p.Trp1720Cys)
c.5091G>T (p.Trp1697Cys)
c.-17-25654G>T (n.-17-25654G>T)
c.5727G>T (p.Trp1909Cys)
c.5538G>T (p.Trp1846Cys)
c.3942G>T (p.Trp1314Cys)
n.6078G>T
6g.51959976C>GCA364421639PKHD1c.5802G>C (p.Trp1934Cys)
c.5160G>C (p.Trp1720Cys)
c.5091G>C (p.Trp1697Cys)
c.-17-25654G>C (n.-17-25654G>C)
c.5727G>C (p.Trp1909Cys)
c.5538G>C (p.Trp1846Cys)
c.3942G>C (p.Trp1314Cys)
n.6078G>C
6g.51959976C>TCA364421641PKHD1c.5802G>A (p.Trp1934Ter)
c.5160G>A (p.Trp1720Ter)
c.5091G>A (p.Trp1697Ter)
c.-17-25654G>A (n.-17-25654G>A)
c.5727G>A (p.Trp1909Ter)
c.5538G>A (p.Trp1846Ter)
c.3942G>A (p.Trp1314Ter)
n.6078G>A
6g.51959977C>ACA364421643PKHD1c.5801G>T (p.Trp1934Leu)
c.5159G>T (p.Trp1720Leu)
c.5090G>T (p.Trp1697Leu)
c.-17-25655G>T (n.-17-25655G>T)
c.5726G>T (p.Trp1909Leu)
c.5537G>T (p.Trp1846Leu)
c.3941G>T (p.Trp1314Leu)
n.6077G>T
 ClinVar
6g.51959977C=CA1628608314PKHD1c.5801G= (p.Trp1934=)
c.5159G= (p.Trp1720=)
c.5090G= (p.Trp1697=)
c.-17-25655G= (n.-17-25655G=)
c.5726G= (p.Trp1909=)
c.5537G= (p.Trp1846=)
c.3941G= (p.Trp1314=)
n.6077G=
6g.51959977C>GCA364421644PKHD1c.5801G>C (p.Trp1934Ser)
c.5159G>C (p.Trp1720Ser)
c.5090G>C (p.Trp1697Ser)
c.-17-25655G>C (n.-17-25655G>C)
c.5726G>C (p.Trp1909Ser)
c.5537G>C (p.Trp1846Ser)
c.3941G>C (p.Trp1314Ser)
n.6077G>C
 dbSNP
6g.51959977C>TCA364421645PKHD1c.5801G>A (p.Trp1934Ter)
c.5159G>A (p.Trp1720Ter)
c.5090G>A (p.Trp1697Ter)
c.-17-25655G>A (n.-17-25655G>A)
c.5726G>A (p.Trp1909Ter)
c.5537G>A (p.Trp1846Ter)
c.3941G>A (p.Trp1314Ter)
n.6077G>A
6g.51959978A>CCA364421647PKHD1c.5800T>G (p.Trp1934Gly)
c.5158T>G (p.Trp1720Gly)
c.5089T>G (p.Trp1697Gly)
c.-17-25656T>G (n.-17-25656T>G)
c.5725T>G (p.Trp1909Gly)
c.5536T>G (p.Trp1846Gly)
c.3940T>G (p.Trp1314Gly)
n.6076T>G
6g.51959978A>GCA364421649PKHD1c.5800T>C (p.Trp1934Arg)
c.5158T>C (p.Trp1720Arg)
c.5089T>C (p.Trp1697Arg)
c.-17-25656T>C (n.-17-25656T>C)
c.5725T>C (p.Trp1909Arg)
c.5536T>C (p.Trp1846Arg)
c.3940T>C (p.Trp1314Arg)
n.6076T>C
 gnomAD v4
6g.51959978A>TCA364421650PKHD1c.5800T>A (p.Trp1934Arg)
c.5158T>A (p.Trp1720Arg)
c.5089T>A (p.Trp1697Arg)
c.-17-25656T>A (n.-17-25656T>A)
c.5725T>A (p.Trp1909Arg)
c.5536T>A (p.Trp1846Arg)
c.3940T>A (p.Trp1314Arg)
n.6076T>A
6g.51959979delCA2695198869PKHD1c.5799del (p.Trp1934GlyfsTer?)
c.5157del (p.Trp1720GlyfsTer?)
c.5088del (p.Trp1697GlyfsTer?)
c.-17-25657del (n.-17-25657del)
c.5724del (p.Trp1909GlyfsTer?)
c.5535del (p.Trp1846GlyfsTer?)
c.3939del (p.Trp1314GlyfsTer?)
n.6075del
 ClinVar
6g.51959979G>ACA450416431PKHD1c.5799C>T (p.Ser1933=)
c.5157C>T (p.Ser1719=)
c.5088C>T (p.Ser1696=)
c.-17-25657C>T (n.-17-25657C>T)
c.5724C>T (p.Ser1908=)
c.5535C>T (p.Ser1845=)
c.3939C>T (p.Ser1313=)
n.6075C>T
6g.51959979G>CCA364421653PKHD1c.5799C>G (p.Ser1933Arg)
c.5157C>G (p.Ser1719Arg)
c.5088C>G (p.Ser1696Arg)
c.-17-25657C>G (n.-17-25657C>G)
c.5724C>G (p.Ser1908Arg)
c.5535C>G (p.Ser1845Arg)
c.3939C>G (p.Ser1313Arg)
n.6075C>G
6g.51959979G>TCA364421654PKHD1c.5799C>A (p.Ser1933Arg)
c.5157C>A (p.Ser1719Arg)
c.5088C>A (p.Ser1696Arg)
c.-17-25657C>A (n.-17-25657C>A)
c.5724C>A (p.Ser1908Arg)
c.5535C>A (p.Ser1845Arg)
c.3939C>A (p.Ser1313Arg)
n.6075C>A
6g.51959980C>ACA364421659PKHD1c.5798G>T (p.Ser1933Ile)
c.5156G>T (p.Ser1719Ile)
c.5087G>T (p.Ser1696Ile)
c.-17-25658G>T (n.-17-25658G>T)
c.5723G>T (p.Ser1908Ile)
c.5534G>T (p.Ser1845Ile)
c.3938G>T (p.Ser1313Ile)
n.6074G>T
6g.51959980C>GCA364421657PKHD1c.5798G>C (p.Ser1933Thr)
c.5156G>C (p.Ser1719Thr)
c.5087G>C (p.Ser1696Thr)
c.-17-25658G>C (n.-17-25658G>C)
c.5723G>C (p.Ser1908Thr)
c.5534G>C (p.Ser1845Thr)
c.3938G>C (p.Ser1313Thr)
n.6074G>C
6g.51959980C>TCA364421656PKHD1c.5798G>A (p.Ser1933Asn)
c.5156G>A (p.Ser1719Asn)
c.5087G>A (p.Ser1696Asn)
c.-17-25658G>A (n.-17-25658G>A)
c.5723G>A (p.Ser1908Asn)
c.5534G>A (p.Ser1845Asn)
c.3938G>A (p.Ser1313Asn)
n.6074G>A
6g.51959981T>ACA364421662PKHD1c.5797A>T (p.Ser1933Cys)
c.5155A>T (p.Ser1719Cys)
c.5086A>T (p.Ser1696Cys)
c.-17-25659A>T (n.-17-25659A>T)
c.5722A>T (p.Ser1908Cys)
c.5533A>T (p.Ser1845Cys)
c.3937A>T (p.Ser1313Cys)
n.6073A>T
6g.51959981T>CCA364421663PKHD1c.5797A>G (p.Ser1933Gly)
c.5155A>G (p.Ser1719Gly)
c.5086A>G (p.Ser1696Gly)
c.-17-25659A>G (n.-17-25659A>G)
c.5722A>G (p.Ser1908Gly)
c.5533A>G (p.Ser1845Gly)
c.3937A>G (p.Ser1313Gly)
n.6073A>G
 dbSNP gnomAD v4
6g.51959981T>GCA364421664PKHD1c.5797A>C (p.Ser1933Arg)
c.5155A>C (p.Ser1719Arg)
c.5086A>C (p.Ser1696Arg)
c.-17-25659A>C (n.-17-25659A>C)
c.5722A>C (p.Ser1908Arg)
c.5533A>C (p.Ser1845Arg)
c.3937A>C (p.Ser1313Arg)
n.6073A>C
6g.51959981T=CA1628608321PKHD1c.5797A= (p.Ser1933=)
c.5155A= (p.Ser1719=)
c.5086A= (p.Ser1696=)
c.-17-25659A= (n.-17-25659A=)
c.5722A= (p.Ser1908=)
c.5533A= (p.Ser1845=)
c.3937A= (p.Ser1313=)
n.6073A=
6g.51959982G>ACA450416432PKHD1c.5796C>T (p.His1932=)
c.5154C>T (p.His1718=)
c.5085C>T (p.His1695=)
c.-17-25660C>T (n.-17-25660C>T)
c.5721C>T (p.His1907=)
c.5532C>T (p.His1844=)
c.3936C>T (p.His1312=)
n.6072C>T
 gnomAD v4
6g.51959982G>CCA364421666PKHD1c.5796C>G (p.His1932Gln)
c.5154C>G (p.His1718Gln)
c.5085C>G (p.His1695Gln)
c.-17-25660C>G (n.-17-25660C>G)
c.5721C>G (p.His1907Gln)
c.5532C>G (p.His1844Gln)
c.3936C>G (p.His1312Gln)
n.6072C>G
6g.51959982G>TCA364421668PKHD1c.5796C>A (p.His1932Gln)
c.5154C>A (p.His1718Gln)
c.5085C>A (p.His1695Gln)
c.-17-25660C>A (n.-17-25660C>A)
c.5721C>A (p.His1907Gln)
c.5532C>A (p.His1844Gln)
c.3936C>A (p.His1312Gln)
n.6072C>A
 gnomAD v4
6g.51959983T>ACA364421670PKHD1c.5795A>T (p.His1932Leu)
c.5153A>T (p.His1718Leu)
c.5084A>T (p.His1695Leu)
c.-17-25661A>T (n.-17-25661A>T)
c.5720A>T (p.His1907Leu)
c.5531A>T (p.His1844Leu)
c.3935A>T (p.His1312Leu)
n.6071A>T
6g.51959983T>CCA364421671PKHD1c.5795A>G (p.His1932Arg)
c.5153A>G (p.His1718Arg)
c.5084A>G (p.His1695Arg)
c.-17-25661A>G (n.-17-25661A>G)
c.5720A>G (p.His1907Arg)
c.5531A>G (p.His1844Arg)
c.3935A>G (p.His1312Arg)
n.6071A>G
6g.51959983T>GCA364421672PKHD1c.5795A>C (p.His1932Pro)
c.5153A>C (p.His1718Pro)
c.5084A>C (p.His1695Pro)
c.-17-25661A>C (n.-17-25661A>C)
c.5720A>C (p.His1907Pro)
c.5531A>C (p.His1844Pro)
c.3935A>C (p.His1312Pro)
n.6071A>C
6g.51959983dupCA2679082516PKHD1c.5795dup (p.His1932GlnfsTer6)
c.5153dup (p.His1718GlnfsTer6)
c.5084dup (p.His1695GlnfsTer6)
c.-17-25661dup (n.-17-25661dup)
c.5720dup (p.His1907GlnfsTer6)
c.5531dup (p.His1844GlnfsTer6)
c.3935dup (p.His1312GlnfsTer6)
n.6071dup
 gnomAD v4
6g.51959984G>ACA364421673PKHD1c.5794C>T (p.His1932Tyr)
c.5152C>T (p.His1718Tyr)
c.5083C>T (p.His1695Tyr)
c.-17-25662C>T (n.-17-25662C>T)
c.5719C>T (p.His1907Tyr)
c.5530C>T (p.His1844Tyr)
c.3934C>T (p.His1312Tyr)
n.6070C>T
 dbSNP gnomAD v3 gnomAD v4
6g.51959984G>CCA364421674PKHD1c.5794C>G (p.His1932Asp)
c.5152C>G (p.His1718Asp)
c.5083C>G (p.His1695Asp)
c.-17-25662C>G (n.-17-25662C>G)
c.5719C>G (p.His1907Asp)
c.5530C>G (p.His1844Asp)
c.3934C>G (p.His1312Asp)
n.6070C>G
6g.51959984G=CA1628608327PKHD1c.5794C= (p.His1932=)
c.5152C= (p.His1718=)
c.5083C= (p.His1695=)
c.-17-25662C= (n.-17-25662C=)
c.5719C= (p.His1907=)
c.5530C= (p.His1844=)
c.3934C= (p.His1312=)
n.6070C=
6g.51959984G>TCA364421675PKHD1c.5794C>A (p.His1932Asn)
c.5152C>A (p.His1718Asn)
c.5083C>A (p.His1695Asn)
c.-17-25662C>A (n.-17-25662C>A)
c.5719C>A (p.His1907Asn)
c.5530C>A (p.His1844Asn)
c.3934C>A (p.His1312Asn)
n.6070C>A
6g.51959985A>CCA450416433PKHD1c.5793T>G (p.Thr1931=)
c.5151T>G (p.Thr1717=)
c.5082T>G (p.Thr1694=)
c.-17-25663T>G (n.-17-25663T>G)
c.5718T>G (p.Thr1906=)
c.5529T>G (p.Thr1843=)
c.3933T>G (p.Thr1311=)
n.6069T>G
6g.51959985A>GCA450416434PKHD1c.5793T>C (p.Thr1931=)
c.5151T>C (p.Thr1717=)
c.5082T>C (p.Thr1694=)
c.-17-25663T>C (n.-17-25663T>C)
c.5718T>C (p.Thr1906=)
c.5529T>C (p.Thr1843=)
c.3933T>C (p.Thr1311=)
n.6069T>C
6g.51959985A>TCA450416435PKHD1c.5793T>A (p.Thr1931=)
c.5151T>A (p.Thr1717=)
c.5082T>A (p.Thr1694=)
c.-17-25663T>A (n.-17-25663T>A)
c.5718T>A (p.Thr1906=)
c.5529T>A (p.Thr1843=)
c.3933T>A (p.Thr1311=)
n.6069T>A
 ClinVar dbSNP
6g.51959986delCA2580075465PKHD1c.5792del (p.Thr1931IlefsTer?)
c.5150del (p.Thr1717IlefsTer?)
c.5081del (p.Thr1694IlefsTer?)
c.-17-25664del (n.-17-25664del)
c.5717del (p.Thr1906IlefsTer?)
c.5528del (p.Thr1843IlefsTer?)
c.3932del (p.Thr1311IlefsTer?)
n.6068del
 ClinVar
6g.51959986G>ACA138922815PKHD1c.5792C>T (p.Thr1931Ile)
c.5150C>T (p.Thr1717Ile)
c.5081C>T (p.Thr1694Ile)
c.-17-25664C>T (n.-17-25664C>T)
c.5717C>T (p.Thr1906Ile)
c.5528C>T (p.Thr1843Ile)
c.3932C>T (p.Thr1311Ile)
n.6068C>T
 dbSNP gnomAD v4
6g.51959986G>CCA364421679PKHD1c.5792C>G (p.Thr1931Ser)
c.5150C>G (p.Thr1717Ser)
c.5081C>G (p.Thr1694Ser)
c.-17-25664C>G (n.-17-25664C>G)
c.5717C>G (p.Thr1906Ser)
c.5528C>G (p.Thr1843Ser)
c.3932C>G (p.Thr1311Ser)
n.6068C>G
6g.51959986G=CA1628608329PKHD1c.5792C= (p.Thr1931=)
c.5150C= (p.Thr1717=)
c.5081C= (p.Thr1694=)
c.-17-25664C= (n.-17-25664C=)
c.5717C= (p.Thr1906=)
c.5528C= (p.Thr1843=)
c.3932C= (p.Thr1311=)
n.6068C=
6g.51959986G>TCA364421677PKHD1c.5792C>A (p.Thr1931Asn)
c.5150C>A (p.Thr1717Asn)
c.5081C>A (p.Thr1694Asn)
c.-17-25664C>A (n.-17-25664C>A)
c.5717C>A (p.Thr1906Asn)
c.5528C>A (p.Thr1843Asn)
c.3932C>A (p.Thr1311Asn)
n.6068C>A
6g.51959987T>ACA364421681PKHD1c.5791A>T (p.Thr1931Ser)
c.5149A>T (p.Thr1717Ser)
c.5080A>T (p.Thr1694Ser)
c.-17-25665A>T (n.-17-25665A>T)
c.5716A>T (p.Thr1906Ser)
c.5527A>T (p.Thr1843Ser)
c.3931A>T (p.Thr1311Ser)
n.6067A>T
6g.51959987T>CCA364421683PKHD1c.5791A>G (p.Thr1931Ala)
c.5149A>G (p.Thr1717Ala)
c.5080A>G (p.Thr1694Ala)
c.-17-25665A>G (n.-17-25665A>G)
c.5716A>G (p.Thr1906Ala)
c.5527A>G (p.Thr1843Ala)
c.3931A>G (p.Thr1311Ala)
n.6067A>G
 gnomAD v4
6g.51959987T>GCA364421686PKHD1c.5791A>C (p.Thr1931Pro)
c.5149A>C (p.Thr1717Pro)
c.5080A>C (p.Thr1694Pro)
c.-17-25665A>C (n.-17-25665A>C)
c.5716A>C (p.Thr1906Pro)
c.5527A>C (p.Thr1843Pro)
c.3931A>C (p.Thr1311Pro)
n.6067A>C
6g.51959988C>ACA364421688PKHD1c.5790G>T (p.Arg1930Ser)
c.5148G>T (p.Arg1716Ser)
c.5079G>T (p.Arg1693Ser)
c.-17-25666G>T (n.-17-25666G>T)
c.5715G>T (p.Arg1905Ser)
c.5526G>T (p.Arg1842Ser)
c.3930G>T (p.Arg1310Ser)
n.6066G>T
6g.51959988C=CA1628608335PKHD1c.5790G= (p.Arg1930=)
c.5148G= (p.Arg1716=)
c.5079G= (p.Arg1693=)
c.-17-25666G= (n.-17-25666G=)
c.5715G= (p.Arg1905=)
c.5526G= (p.Arg1842=)
c.3930G= (p.Arg1310=)
n.6066G=
6g.51959988C>GCA364421690PKHD1c.5790G>C (p.Arg1930Ser)
c.5148G>C (p.Arg1716Ser)
c.5079G>C (p.Arg1693Ser)
c.-17-25666G>C (n.-17-25666G>C)
c.5715G>C (p.Arg1905Ser)
c.5526G>C (p.Arg1842Ser)
c.3930G>C (p.Arg1310Ser)
n.6066G>C
 dbSNP gnomAD v2 gnomAD v4
6g.51959988C>TCA450416436PKHD1c.5790G>A (p.Arg1930=)
c.5148G>A (p.Arg1716=)
c.5079G>A (p.Arg1693=)
c.-17-25666G>A (n.-17-25666G>A)
c.5715G>A (p.Arg1905=)
c.5526G>A (p.Arg1842=)
c.3930G>A (p.Arg1310=)
n.6066G>A
6g.51959989delCA2771054174PKHD1c.5790del (p.Thr1931LeufsTer?)
c.5148del (p.Thr1717LeufsTer?)
c.5079del (p.Thr1694LeufsTer?)
c.-17-25666del (n.-17-25666del)
c.5715del (p.Thr1906LeufsTer?)
c.5526del (p.Thr1843LeufsTer?)
c.3930del (p.Thr1311LeufsTer?)
n.6066del
6g.51959989C>ACA364421692PKHD1c.5789G>T (p.Arg1930Met)
c.5147G>T (p.Arg1716Met)
c.5078G>T (p.Arg1693Met)
c.-17-25667G>T (n.-17-25667G>T)
c.5714G>T (p.Arg1905Met)
c.5525G>T (p.Arg1842Met)
c.3929G>T (p.Arg1310Met)
n.6065G>T
6g.51959989C>GCA364421694PKHD1c.5789G>C (p.Arg1930Thr)
c.5147G>C (p.Arg1716Thr)
c.5078G>C (p.Arg1693Thr)
c.-17-25667G>C (n.-17-25667G>C)
c.5714G>C (p.Arg1905Thr)
c.5525G>C (p.Arg1842Thr)
c.3929G>C (p.Arg1310Thr)
n.6065G>C
6g.51959989C>TCA364421696PKHD1c.5789G>A (p.Arg1930Lys)
c.5147G>A (p.Arg1716Lys)
c.5078G>A (p.Arg1693Lys)
c.-17-25667G>A (n.-17-25667G>A)
c.5714G>A (p.Arg1905Lys)
c.5525G>A (p.Arg1842Lys)
c.3929G>A (p.Arg1310Lys)
n.6065G>A
6g.51959990T>ACA364421697PKHD1c.5788A>T (p.Arg1930Trp)
c.5146A>T (p.Arg1716Trp)
c.5077A>T (p.Arg1693Trp)
c.-17-25668A>T (n.-17-25668A>T)
c.5713A>T (p.Arg1905Trp)
c.5524A>T (p.Arg1842Trp)
c.3928A>T (p.Arg1310Trp)
n.6064A>T
6g.51959990T>CCA364421699PKHD1c.5788A>G (p.Arg1930Gly)
c.5146A>G (p.Arg1716Gly)
c.5077A>G (p.Arg1693Gly)
c.-17-25668A>G (n.-17-25668A>G)
c.5713A>G (p.Arg1905Gly)
c.5524A>G (p.Arg1842Gly)
c.3928A>G (p.Arg1310Gly)
n.6064A>G
6g.51959990T>GCA450416437PKHD1c.5788A>C (p.Arg1930=)
c.5146A>C (p.Arg1716=)
c.5077A>C (p.Arg1693=)
c.-17-25668A>C (n.-17-25668A>C)
c.5713A>C (p.Arg1905=)
c.5524A>C (p.Arg1842=)
c.3928A>C (p.Arg1310=)
n.6064A>C

Number of alleles fetched