Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51912431C>ACA450415949PKHD1c.6267G>T (p.Pro2089=)
c.5625G>T (p.Pro1875=)
c.5556G>T (p.Pro1852=)
c.342G>T (p.Pro114=)
c.6192G>T (p.Pro2064=)
c.6003G>T (p.Pro2001=)
c.4407G>T (p.Pro1469=)
n.6543G>T
 dbSNP gnomAD v3 gnomAD v4
6g.51912431C=CA1628583360PKHD1c.6267G= (p.Pro2089=)
c.5625G= (p.Pro1875=)
c.5556G= (p.Pro1852=)
c.342G= (p.Pro114=)
c.6192G= (p.Pro2064=)
c.6003G= (p.Pro2001=)
c.4407G= (p.Pro1469=)
n.6543G=
6g.51912431C>GCA450415950PKHD1c.6267G>C (p.Pro2089=)
c.5625G>C (p.Pro1875=)
c.5556G>C (p.Pro1852=)
c.342G>C (p.Pro114=)
c.6192G>C (p.Pro2064=)
c.6003G>C (p.Pro2001=)
c.4407G>C (p.Pro1469=)
n.6543G>C
6g.51912431C>TCA450415951PKHD1c.6267G>A (p.Pro2089=)
c.5625G>A (p.Pro1875=)
c.5556G>A (p.Pro1852=)
c.342G>A (p.Pro114=)
c.6192G>A (p.Pro2064=)
c.6003G>A (p.Pro2001=)
c.4407G>A (p.Pro1469=)
n.6543G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51912432G>ACA3852307PKHD1c.6266C>T (p.Pro2089Leu)
c.5624C>T (p.Pro1875Leu)
c.5555C>T (p.Pro1852Leu)
c.341C>T (p.Pro114Leu)
c.6191C>T (p.Pro2064Leu)
c.6002C>T (p.Pro2001Leu)
c.4406C>T (p.Pro1469Leu)
n.6542C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912432G>CCA364439506PKHD1c.6266C>G (p.Pro2089Arg)
c.5624C>G (p.Pro1875Arg)
c.5555C>G (p.Pro1852Arg)
c.341C>G (p.Pro114Arg)
c.6191C>G (p.Pro2064Arg)
c.6002C>G (p.Pro2001Arg)
c.4406C>G (p.Pro1469Arg)
n.6542C>G
6g.51912432G=CA1628583364PKHD1c.6266C= (p.Pro2089=)
c.5624C= (p.Pro1875=)
c.5555C= (p.Pro1852=)
c.341C= (p.Pro114=)
c.6191C= (p.Pro2064=)
c.6002C= (p.Pro2001=)
c.4406C= (p.Pro1469=)
n.6542C=
6g.51912432G>TCA364439509PKHD1c.6266C>A (p.Pro2089Gln)
c.5624C>A (p.Pro1875Gln)
c.5555C>A (p.Pro1852Gln)
c.341C>A (p.Pro114Gln)
c.6191C>A (p.Pro2064Gln)
c.6002C>A (p.Pro2001Gln)
c.4406C>A (p.Pro1469Gln)
n.6542C>A
6g.51912433G>ACA364439513PKHD1c.6265C>T (p.Pro2089Ser)
c.5623C>T (p.Pro1875Ser)
c.5554C>T (p.Pro1852Ser)
c.340C>T (p.Pro114Ser)
c.6190C>T (p.Pro2064Ser)
c.6001C>T (p.Pro2001Ser)
c.4405C>T (p.Pro1469Ser)
n.6541C>T
6g.51912433G>CCA364439515PKHD1c.6265C>G (p.Pro2089Ala)
c.5623C>G (p.Pro1875Ala)
c.5554C>G (p.Pro1852Ala)
c.340C>G (p.Pro114Ala)
c.6190C>G (p.Pro2064Ala)
c.6001C>G (p.Pro2001Ala)
c.4405C>G (p.Pro1469Ala)
n.6541C>G
6g.51912433G>TCA364439517PKHD1c.6265C>A (p.Pro2089Thr)
c.5623C>A (p.Pro1875Thr)
c.5554C>A (p.Pro1852Thr)
c.340C>A (p.Pro114Thr)
c.6190C>A (p.Pro2064Thr)
c.6001C>A (p.Pro2001Thr)
c.4405C>A (p.Pro1469Thr)
n.6541C>A
6g.51912434T>ACA364439521PKHD1c.6264A>T (p.Lys2088Asn)
c.5622A>T (p.Lys1874Asn)
c.5553A>T (p.Lys1851Asn)
c.339A>T (p.Lys113Asn)
c.6189A>T (p.Lys2063Asn)
c.6000A>T (p.Lys2000Asn)
c.4404A>T (p.Lys1468Asn)
n.6540A>T
6g.51912434T>CCA450415952PKHD1c.6264A>G (p.Lys2088=)
c.5622A>G (p.Lys1874=)
c.5553A>G (p.Lys1851=)
c.339A>G (p.Lys113=)
c.6189A>G (p.Lys2063=)
c.6000A>G (p.Lys2000=)
c.4404A>G (p.Lys1468=)
n.6540A>G
 gnomAD v4
6g.51912434T>GCA364439519PKHD1c.6264A>C (p.Lys2088Asn)
c.5622A>C (p.Lys1874Asn)
c.5553A>C (p.Lys1851Asn)
c.339A>C (p.Lys113Asn)
c.6189A>C (p.Lys2063Asn)
c.6000A>C (p.Lys2000Asn)
c.4404A>C (p.Lys1468Asn)
n.6540A>C
6g.51912436delCA2679081920PKHD1c.6264del (p.Lys2088AsnfsTer23)
c.5622del (p.Lys1874AsnfsTer23)
c.5553del (p.Lys1851AsnfsTer23)
c.339del (p.Lys113AsnfsTer23)
c.6189del (p.Lys2063AsnfsTer23)
c.6000del (p.Lys2000AsnfsTer23)
c.4404del (p.Lys1468AsnfsTer23)
n.6540del
 gnomAD v4
6g.51912435T>ACA364439524PKHD1c.6263A>T (p.Lys2088Ile)
c.5621A>T (p.Lys1874Ile)
c.5552A>T (p.Lys1851Ile)
c.338A>T (p.Lys113Ile)
c.6188A>T (p.Lys2063Ile)
c.5999A>T (p.Lys2000Ile)
c.4403A>T (p.Lys1468Ile)
n.6539A>T
 gnomAD v4 COSMIC COSMIC
6g.51912435T>CCA3852308PKHD1c.6263A>G (p.Lys2088Arg)
c.5621A>G (p.Lys1874Arg)
c.5552A>G (p.Lys1851Arg)
c.338A>G (p.Lys113Arg)
c.6188A>G (p.Lys2063Arg)
c.5999A>G (p.Lys2000Arg)
c.4403A>G (p.Lys1468Arg)
n.6539A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51912435T>GCA138910834PKHD1c.6263A>C (p.Lys2088Thr)
c.5621A>C (p.Lys1874Thr)
c.5552A>C (p.Lys1851Thr)
c.338A>C (p.Lys113Thr)
c.6188A>C (p.Lys2063Thr)
c.5999A>C (p.Lys2000Thr)
c.4403A>C (p.Lys1468Thr)
n.6539A>C
 dbSNP gnomAD v4
6g.51912435T=CA1628583368PKHD1c.6263A= (p.Lys2088=)
c.5621A= (p.Lys1874=)
c.5552A= (p.Lys1851=)
c.338A= (p.Lys113=)
c.6188A= (p.Lys2063=)
c.5999A= (p.Lys2000=)
c.4403A= (p.Lys1468=)
n.6539A=
6g.51912436T>ACA364439529PKHD1c.6262A>T (p.Lys2088Ter)
c.5620A>T (p.Lys1874Ter)
c.5551A>T (p.Lys1851Ter)
c.337A>T (p.Lys113Ter)
c.6187A>T (p.Lys2063Ter)
c.5998A>T (p.Lys2000Ter)
c.4402A>T (p.Lys1468Ter)
n.6538A>T
6g.51912436T>CCA364439531PKHD1c.6262A>G (p.Lys2088Glu)
c.5620A>G (p.Lys1874Glu)
c.5551A>G (p.Lys1851Glu)
c.337A>G (p.Lys113Glu)
c.6187A>G (p.Lys2063Glu)
c.5998A>G (p.Lys2000Glu)
c.4402A>G (p.Lys1468Glu)
n.6538A>G
6g.51912436T>GCA364439533PKHD1c.6262A>C (p.Lys2088Gln)
c.5620A>C (p.Lys1874Gln)
c.5551A>C (p.Lys1851Gln)
c.337A>C (p.Lys113Gln)
c.6187A>C (p.Lys2063Gln)
c.5998A>C (p.Lys2000Gln)
c.4402A>C (p.Lys1468Gln)
n.6538A>C
6g.51912437G>ACA450415953PKHD1c.6261C>T (p.Ala2087=)
c.5619C>T (p.Ala1873=)
c.5550C>T (p.Ala1850=)
c.336C>T (p.Ala112=)
c.6186C>T (p.Ala2062=)
c.5997C>T (p.Ala1999=)
c.4401C>T (p.Ala1467=)
n.6537C>T
6g.51912437G>CCA450415955PKHD1c.6261C>G (p.Ala2087=)
c.5619C>G (p.Ala1873=)
c.5550C>G (p.Ala1850=)
c.336C>G (p.Ala112=)
c.6186C>G (p.Ala2062=)
c.5997C>G (p.Ala1999=)
c.4401C>G (p.Ala1467=)
n.6537C>G
6g.51912437G>TCA450415954PKHD1c.6261C>A (p.Ala2087=)
c.5619C>A (p.Ala1873=)
c.5550C>A (p.Ala1850=)
c.336C>A (p.Ala112=)
c.6186C>A (p.Ala2062=)
c.5997C>A (p.Ala1999=)
c.4401C>A (p.Ala1467=)
n.6537C>A
6g.51912438G>ACA364439536PKHD1c.6260C>T (p.Ala2087Val)
c.5618C>T (p.Ala1873Val)
c.5549C>T (p.Ala1850Val)
c.335C>T (p.Ala112Val)
c.6185C>T (p.Ala2062Val)
c.5996C>T (p.Ala1999Val)
c.4400C>T (p.Ala1467Val)
n.6536C>T
6g.51912438G>CCA364439538PKHD1c.6260C>G (p.Ala2087Gly)
c.5618C>G (p.Ala1873Gly)
c.5549C>G (p.Ala1850Gly)
c.335C>G (p.Ala112Gly)
c.6185C>G (p.Ala2062Gly)
c.5996C>G (p.Ala1999Gly)
c.4400C>G (p.Ala1467Gly)
n.6536C>G
6g.51912438G=CA1628583373PKHD1c.6260C= (p.Ala2087=)
c.5618C= (p.Ala1873=)
c.5549C= (p.Ala1850=)
c.335C= (p.Ala112=)
c.6185C= (p.Ala2062=)
c.5996C= (p.Ala1999=)
c.4400C= (p.Ala1467=)
n.6536C=
6g.51912438G>TCA364439539PKHD1c.6260C>A (p.Ala2087Asp)
c.5618C>A (p.Ala1873Asp)
c.5549C>A (p.Ala1850Asp)
c.335C>A (p.Ala112Asp)
c.6185C>A (p.Ala2062Asp)
c.5996C>A (p.Ala1999Asp)
c.4400C>A (p.Ala1467Asp)
n.6536C>A
 dbSNP gnomAD v2 gnomAD v4
6g.51912439C>ACA364439542PKHD1c.6259G>T (p.Ala2087Ser)
c.5617G>T (p.Ala1873Ser)
c.5548G>T (p.Ala1850Ser)
c.334G>T (p.Ala112Ser)
c.6184G>T (p.Ala2062Ser)
c.5995G>T (p.Ala1999Ser)
c.4399G>T (p.Ala1467Ser)
n.6535G>T
6g.51912439C>GCA364439544PKHD1c.6259G>C (p.Ala2087Pro)
c.5617G>C (p.Ala1873Pro)
c.5548G>C (p.Ala1850Pro)
c.334G>C (p.Ala112Pro)
c.6184G>C (p.Ala2062Pro)
c.5995G>C (p.Ala1999Pro)
c.4399G>C (p.Ala1467Pro)
n.6535G>C
6g.51912439C>TCA364439545PKHD1c.6259G>A (p.Ala2087Thr)
c.5617G>A (p.Ala1873Thr)
c.5548G>A (p.Ala1850Thr)
c.334G>A (p.Ala112Thr)
c.6184G>A (p.Ala2062Thr)
c.5995G>A (p.Ala1999Thr)
c.4399G>A (p.Ala1467Thr)
n.6535G>A
 gnomAD v4
6g.51912440A>CCA450415956PKHD1c.6258T>G (p.Gly2086=)
c.5616T>G (p.Gly1872=)
c.5547T>G (p.Gly1849=)
c.333T>G (p.Gly111=)
c.6183T>G (p.Gly2061=)
c.5994T>G (p.Gly1998=)
c.4398T>G (p.Gly1466=)
n.6534T>G
6g.51912440A>GCA450415957PKHD1c.6258T>C (p.Gly2086=)
c.5616T>C (p.Gly1872=)
c.5547T>C (p.Gly1849=)
c.333T>C (p.Gly111=)
c.6183T>C (p.Gly2061=)
c.5994T>C (p.Gly1998=)
c.4398T>C (p.Gly1466=)
n.6534T>C
6g.51912440A>TCA450415958PKHD1c.6258T>A (p.Gly2086=)
c.5616T>A (p.Gly1872=)
c.5547T>A (p.Gly1849=)
c.333T>A (p.Gly111=)
c.6183T>A (p.Gly2061=)
c.5994T>A (p.Gly1998=)
c.4398T>A (p.Gly1466=)
n.6534T>A
6g.51912441C>ACA364439551PKHD1c.6257G>T (p.Gly2086Val)
c.5615G>T (p.Gly1872Val)
c.5546G>T (p.Gly1849Val)
c.332G>T (p.Gly111Val)
c.6182G>T (p.Gly2061Val)
c.5993G>T (p.Gly1998Val)
c.4397G>T (p.Gly1466Val)
n.6533G>T
6g.51912441C=CA1628583376PKHD1c.6257G= (p.Gly2086=)
c.5615G= (p.Gly1872=)
c.5546G= (p.Gly1849=)
c.332G= (p.Gly111=)
c.6182G= (p.Gly2061=)
c.5993G= (p.Gly1998=)
c.4397G= (p.Gly1466=)
n.6533G=
6g.51912441C>GCA364439549PKHD1c.6257G>C (p.Gly2086Ala)
c.5615G>C (p.Gly1872Ala)
c.5546G>C (p.Gly1849Ala)
c.332G>C (p.Gly111Ala)
c.6182G>C (p.Gly2061Ala)
c.5993G>C (p.Gly1998Ala)
c.4397G>C (p.Gly1466Ala)
n.6533G>C
 dbSNP
6g.51912441C>TCA364439547PKHD1c.6257G>A (p.Gly2086Asp)
c.5615G>A (p.Gly1872Asp)
c.5546G>A (p.Gly1849Asp)
c.332G>A (p.Gly111Asp)
c.6182G>A (p.Gly2061Asp)
c.5993G>A (p.Gly1998Asp)
c.4397G>A (p.Gly1466Asp)
n.6533G>A
 gnomAD v4
6g.51912442C>ACA364439555PKHD1c.6256G>T (p.Gly2086Cys)
c.5614G>T (p.Gly1872Cys)
c.5545G>T (p.Gly1849Cys)
c.331G>T (p.Gly111Cys)
c.6181G>T (p.Gly2061Cys)
c.5992G>T (p.Gly1998Cys)
c.4396G>T (p.Gly1466Cys)
n.6532G>T
 gnomAD v4
6g.51912442C=CA1628583380PKHD1c.6256G= (p.Gly2086=)
c.5614G= (p.Gly1872=)
c.5545G= (p.Gly1849=)
c.331G= (p.Gly111=)
c.6181G= (p.Gly2061=)
c.5992G= (p.Gly1998=)
c.4396G= (p.Gly1466=)
n.6532G=
6g.51912442C>GCA364439553PKHD1c.6256G>C (p.Gly2086Arg)
c.5614G>C (p.Gly1872Arg)
c.5545G>C (p.Gly1849Arg)
c.331G>C (p.Gly111Arg)
c.6181G>C (p.Gly2061Arg)
c.5992G>C (p.Gly1998Arg)
c.4396G>C (p.Gly1466Arg)
n.6532G>C
6g.51912442C>TCA3852309PKHD1c.6256G>A (p.Gly2086Ser)
c.5614G>A (p.Gly1872Ser)
c.5545G>A (p.Gly1849Ser)
c.331G>A (p.Gly111Ser)
c.6181G>A (p.Gly2061Ser)
c.5992G>A (p.Gly1998Ser)
c.4396G>A (p.Gly1466Ser)
n.6532G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912443T>ACA364439558PKHD1c.6255A>T (p.Lys2085Asn)
c.5613A>T (p.Lys1871Asn)
c.5544A>T (p.Lys1848Asn)
c.330A>T (p.Lys110Asn)
c.6180A>T (p.Lys2060Asn)
c.5991A>T (p.Lys1997Asn)
c.4395A>T (p.Lys1465Asn)
n.6531A>T
 COSMIC COSMIC
6g.51912443T>CCA450415959PKHD1c.6255A>G (p.Lys2085=)
c.5613A>G (p.Lys1871=)
c.5544A>G (p.Lys1848=)
c.330A>G (p.Lys110=)
c.6180A>G (p.Lys2060=)
c.5991A>G (p.Lys1997=)
c.4395A>G (p.Lys1465=)
n.6531A>G
6g.51912443T>GCA364439560PKHD1c.6255A>C (p.Lys2085Asn)
c.5613A>C (p.Lys1871Asn)
c.5544A>C (p.Lys1848Asn)
c.330A>C (p.Lys110Asn)
c.6180A>C (p.Lys2060Asn)
c.5991A>C (p.Lys1997Asn)
c.4395A>C (p.Lys1465Asn)
n.6531A>C
 gnomAD v4
6g.51912444T>ACA364439563PKHD1c.6254A>T (p.Lys2085Ile)
c.5612A>T (p.Lys1871Ile)
c.5543A>T (p.Lys1848Ile)
c.329A>T (p.Lys110Ile)
c.6179A>T (p.Lys2060Ile)
c.5990A>T (p.Lys1997Ile)
c.4394A>T (p.Lys1465Ile)
n.6530A>T
6g.51912444T>CCA364439565PKHD1c.6254A>G (p.Lys2085Arg)
c.5612A>G (p.Lys1871Arg)
c.5543A>G (p.Lys1848Arg)
c.329A>G (p.Lys110Arg)
c.6179A>G (p.Lys2060Arg)
c.5990A>G (p.Lys1997Arg)
c.4394A>G (p.Lys1465Arg)
n.6530A>G
6g.51912444T>GCA364439567PKHD1c.6254A>C (p.Lys2085Thr)
c.5612A>C (p.Lys1871Thr)
c.5543A>C (p.Lys1848Thr)
c.329A>C (p.Lys110Thr)
c.6179A>C (p.Lys2060Thr)
c.5990A>C (p.Lys1997Thr)
c.4394A>C (p.Lys1465Thr)
n.6530A>C
6g.51912445T>ACA364439570PKHD1c.6253A>T (p.Lys2085Ter)
c.5611A>T (p.Lys1871Ter)
c.5542A>T (p.Lys1848Ter)
c.328A>T (p.Lys110Ter)
c.6178A>T (p.Lys2060Ter)
c.5989A>T (p.Lys1997Ter)
c.4393A>T (p.Lys1465Ter)
n.6529A>T
6g.51912445T>CCA364439572PKHD1c.6253A>G (p.Lys2085Glu)
c.5611A>G (p.Lys1871Glu)
c.5542A>G (p.Lys1848Glu)
c.328A>G (p.Lys110Glu)
c.6178A>G (p.Lys2060Glu)
c.5989A>G (p.Lys1997Glu)
c.4393A>G (p.Lys1465Glu)
n.6529A>G
6g.51912445T>GCA364439574PKHD1c.6253A>C (p.Lys2085Gln)
c.5611A>C (p.Lys1871Gln)
c.5542A>C (p.Lys1848Gln)
c.328A>C (p.Lys110Gln)
c.6178A>C (p.Lys2060Gln)
c.5989A>C (p.Lys1997Gln)
c.4393A>C (p.Lys1465Gln)
n.6529A>C
6g.51912446A>CCA450415961PKHD1c.6252T>G (p.Val2084=)
c.5610T>G (p.Val1870=)
c.5541T>G (p.Val1847=)
c.327T>G (p.Val109=)
c.6177T>G (p.Val2059=)
c.5988T>G (p.Val1996=)
c.4392T>G (p.Val1464=)
n.6528T>G
6g.51912446A>GCA450415962PKHD1c.6252T>C (p.Val2084=)
c.5610T>C (p.Val1870=)
c.5541T>C (p.Val1847=)
c.327T>C (p.Val109=)
c.6177T>C (p.Val2059=)
c.5988T>C (p.Val1996=)
c.4392T>C (p.Val1464=)
n.6528T>C
6g.51912446A>TCA450415960PKHD1c.6252T>A (p.Val2084=)
c.5610T>A (p.Val1870=)
c.5541T>A (p.Val1847=)
c.327T>A (p.Val109=)
c.6177T>A (p.Val2059=)
c.5988T>A (p.Val1996=)
c.4392T>A (p.Val1464=)
n.6528T>A
6g.51912447A>CCA364439576PKHD1c.6251T>G (p.Val2084Gly)
c.5609T>G (p.Val1870Gly)
c.5540T>G (p.Val1847Gly)
c.326T>G (p.Val109Gly)
c.6176T>G (p.Val2059Gly)
c.5987T>G (p.Val1996Gly)
c.4391T>G (p.Val1464Gly)
n.6527T>G
6g.51912447A>GCA364439578PKHD1c.6251T>C (p.Val2084Ala)
c.5609T>C (p.Val1870Ala)
c.5540T>C (p.Val1847Ala)
c.326T>C (p.Val109Ala)
c.6176T>C (p.Val2059Ala)
c.5987T>C (p.Val1996Ala)
c.4391T>C (p.Val1464Ala)
n.6527T>C
6g.51912447A>TCA364439580PKHD1c.6251T>A (p.Val2084Asp)
c.5609T>A (p.Val1870Asp)
c.5540T>A (p.Val1847Asp)
c.326T>A (p.Val109Asp)
c.6176T>A (p.Val2059Asp)
c.5987T>A (p.Val1996Asp)
c.4391T>A (p.Val1464Asp)
n.6527T>A
6g.51912447_51912448insTTCA2740744081PKHD1c.6250_6251insAA (p.Val2084GlufsTer28)
c.5608_5609insAA (p.Val1870GlufsTer28)
c.5539_5540insAA (p.Val1847GlufsTer28)
c.325_326insAA (p.Val109GlufsTer28)
c.6175_6176insAA (p.Val2059GlufsTer28)
c.5986_5987insAA (p.Val1996GlufsTer28)
c.4390_4391insAA (p.Val1464GlufsTer28)
n.6526_6527insAA
6g.51912448C>ACA364439586PKHD1c.6250G>T (p.Val2084Phe)
c.5608G>T (p.Val1870Phe)
c.5539G>T (p.Val1847Phe)
c.325G>T (p.Val109Phe)
c.6175G>T (p.Val2059Phe)
c.5986G>T (p.Val1996Phe)
c.4390G>T (p.Val1464Phe)
n.6526G>T
 dbSNP
6g.51912448C=CA1628583382PKHD1c.6250G= (p.Val2084=)
c.5608G= (p.Val1870=)
c.5539G= (p.Val1847=)
c.325G= (p.Val109=)
c.6175G= (p.Val2059=)
c.5986G= (p.Val1996=)
c.4390G= (p.Val1464=)
n.6526G=
6g.51912448C>GCA364439582PKHD1c.6250G>C (p.Val2084Leu)
c.5608G>C (p.Val1870Leu)
c.5539G>C (p.Val1847Leu)
c.325G>C (p.Val109Leu)
c.6175G>C (p.Val2059Leu)
c.5986G>C (p.Val1996Leu)
c.4390G>C (p.Val1464Leu)
n.6526G>C
 dbSNP gnomAD v3 gnomAD v4
6g.51912448C>TCA364439585PKHD1c.6250G>A (p.Val2084Ile)
c.5608G>A (p.Val1870Ile)
c.5539G>A (p.Val1847Ile)
c.325G>A (p.Val109Ile)
c.6175G>A (p.Val2059Ile)
c.5986G>A (p.Val1996Ile)
c.4390G>A (p.Val1464Ile)
n.6526G>A
6g.51912449A>CCA450415963PKHD1c.6249T>G (p.Gly2083=)
c.5607T>G (p.Gly1869=)
c.5538T>G (p.Gly1846=)
c.324T>G (p.Gly108=)
c.6174T>G (p.Gly2058=)
c.5985T>G (p.Gly1995=)
c.4389T>G (p.Gly1463=)
n.6525T>G
 ClinVar
6g.51912449A>GCA450415964PKHD1c.6249T>C (p.Gly2083=)
c.5607T>C (p.Gly1869=)
c.5538T>C (p.Gly1846=)
c.324T>C (p.Gly108=)
c.6174T>C (p.Gly2058=)
c.5985T>C (p.Gly1995=)
c.4389T>C (p.Gly1463=)
n.6525T>C
6g.51912449A>TCA450415965PKHD1c.6249T>A (p.Gly2083=)
c.5607T>A (p.Gly1869=)
c.5538T>A (p.Gly1846=)
c.324T>A (p.Gly108=)
c.6174T>A (p.Gly2058=)
c.5985T>A (p.Gly1995=)
c.4389T>A (p.Gly1463=)
n.6525T>A
6g.51912450C>ACA364439588PKHD1c.6248G>T (p.Gly2083Val)
c.5606G>T (p.Gly1869Val)
c.5537G>T (p.Gly1846Val)
c.323G>T (p.Gly108Val)
c.6173G>T (p.Gly2058Val)
c.5984G>T (p.Gly1995Val)
c.4388G>T (p.Gly1463Val)
n.6524G>T
 dbSNP gnomAD v4
6g.51912450C>GCA364439590PKHD1c.6248G>C (p.Gly2083Ala)
c.5606G>C (p.Gly1869Ala)
c.5537G>C (p.Gly1846Ala)
c.323G>C (p.Gly108Ala)
c.6173G>C (p.Gly2058Ala)
c.5984G>C (p.Gly1995Ala)
c.4388G>C (p.Gly1463Ala)
n.6524G>C
6g.51912450C>TCA364439591PKHD1c.6248G>A (p.Gly2083Asp)
c.5606G>A (p.Gly1869Asp)
c.5537G>A (p.Gly1846Asp)
c.323G>A (p.Gly108Asp)
c.6173G>A (p.Gly2058Asp)
c.5984G>A (p.Gly1995Asp)
c.4388G>A (p.Gly1463Asp)
n.6524G>A
6g.51912451C>ACA364439593PKHD1c.6247G>T (p.Gly2083Cys)
c.5605G>T (p.Gly1869Cys)
c.5536G>T (p.Gly1846Cys)
c.322G>T (p.Gly108Cys)
c.6172G>T (p.Gly2058Cys)
c.5983G>T (p.Gly1995Cys)
c.4387G>T (p.Gly1463Cys)
n.6523G>T
 dbSNP
6g.51912451C>GCA364439596PKHD1c.6247G>C (p.Gly2083Arg)
c.5605G>C (p.Gly1869Arg)
c.5536G>C (p.Gly1846Arg)
c.322G>C (p.Gly108Arg)
c.6172G>C (p.Gly2058Arg)
c.5983G>C (p.Gly1995Arg)
c.4387G>C (p.Gly1463Arg)
n.6523G>C
6g.51912451C>TCA364439598PKHD1c.6247G>A (p.Gly2083Ser)
c.5605G>A (p.Gly1869Ser)
c.5536G>A (p.Gly1846Ser)
c.322G>A (p.Gly108Ser)
c.6172G>A (p.Gly2058Ser)
c.5983G>A (p.Gly1995Ser)
c.4387G>A (p.Gly1463Ser)
n.6523G>A
6g.51912452T>ACA450415966PKHD1c.6246A>T (p.Thr2082=)
c.5604A>T (p.Thr1868=)
c.5535A>T (p.Thr1845=)
c.321A>T (p.Thr107=)
c.6171A>T (p.Thr2057=)
c.5982A>T (p.Thr1994=)
c.4386A>T (p.Thr1462=)
n.6522A>T
6g.51912452T>CCA450415967PKHD1c.6246A>G (p.Thr2082=)
c.5604A>G (p.Thr1868=)
c.5535A>G (p.Thr1845=)
c.321A>G (p.Thr107=)
c.6171A>G (p.Thr2057=)
c.5982A>G (p.Thr1994=)
c.4386A>G (p.Thr1462=)
n.6522A>G
 gnomAD v4
6g.51912452T>GCA450415968PKHD1c.6246A>C (p.Thr2082=)
c.5604A>C (p.Thr1868=)
c.5535A>C (p.Thr1845=)
c.321A>C (p.Thr107=)
c.6171A>C (p.Thr2057=)
c.5982A>C (p.Thr1994=)
c.4386A>C (p.Thr1462=)
n.6522A>C
6g.51912453G>ACA202674PKHD1c.6245C>T (p.Thr2082Ile)
c.5603C>T (p.Thr1868Ile)
c.5534C>T (p.Thr1845Ile)
c.320C>T (p.Thr107Ile)
c.6170C>T (p.Thr2057Ile)
c.5981C>T (p.Thr1994Ile)
c.4385C>T (p.Thr1462Ile)
n.6521C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912453G>CCA364439601PKHD1c.6245C>G (p.Thr2082Arg)
c.5603C>G (p.Thr1868Arg)
c.5534C>G (p.Thr1845Arg)
c.320C>G (p.Thr107Arg)
c.6170C>G (p.Thr2057Arg)
c.5981C>G (p.Thr1994Arg)
c.4385C>G (p.Thr1462Arg)
n.6521C>G
 gnomAD v4
6g.51912453G=CA1628583384PKHD1c.6245C= (p.Thr2082=)
c.5603C= (p.Thr1868=)
c.5534C= (p.Thr1845=)
c.320C= (p.Thr107=)
c.6170C= (p.Thr2057=)
c.5981C= (p.Thr1994=)
c.4385C= (p.Thr1462=)
n.6521C=
6g.51912453G>TCA364439604PKHD1c.6245C>A (p.Thr2082Lys)
c.5603C>A (p.Thr1868Lys)
c.5534C>A (p.Thr1845Lys)
c.320C>A (p.Thr107Lys)
c.6170C>A (p.Thr2057Lys)
c.5981C>A (p.Thr1994Lys)
c.4385C>A (p.Thr1462Lys)
n.6521C>A
6g.51912454T>ACA364439607PKHD1c.6244A>T (p.Thr2082Ser)
c.5602A>T (p.Thr1868Ser)
c.5533A>T (p.Thr1845Ser)
c.319A>T (p.Thr107Ser)
c.6169A>T (p.Thr2057Ser)
c.5980A>T (p.Thr1994Ser)
c.4384A>T (p.Thr1462Ser)
n.6520A>T
6g.51912454T>CCA364439609PKHD1c.6244A>G (p.Thr2082Ala)
c.5602A>G (p.Thr1868Ala)
c.5533A>G (p.Thr1845Ala)
c.319A>G (p.Thr107Ala)
c.6169A>G (p.Thr2057Ala)
c.5980A>G (p.Thr1994Ala)
c.4384A>G (p.Thr1462Ala)
n.6520A>G
6g.51912454T>GCA364439612PKHD1c.6244A>C (p.Thr2082Pro)
c.5602A>C (p.Thr1868Pro)
c.5533A>C (p.Thr1845Pro)
c.319A>C (p.Thr107Pro)
c.6169A>C (p.Thr2057Pro)
c.5980A>C (p.Thr1994Pro)
c.4384A>C (p.Thr1462Pro)
n.6520A>C
6g.51912455T>ACA450415969PKHD1c.6243A>T (p.Gly2081=)
c.5601A>T (p.Gly1867=)
c.5532A>T (p.Gly1844=)
c.318A>T (p.Gly106=)
c.6168A>T (p.Gly2056=)
c.5979A>T (p.Gly1993=)
c.4383A>T (p.Gly1461=)
n.6519A>T
 ClinVar
6g.51912455T>CCA450415970PKHD1c.6243A>G (p.Gly2081=)
c.5601A>G (p.Gly1867=)
c.5532A>G (p.Gly1844=)
c.318A>G (p.Gly106=)
c.6168A>G (p.Gly2056=)
c.5979A>G (p.Gly1993=)
c.4383A>G (p.Gly1461=)
n.6519A>G
6g.51912455T>GCA450415971PKHD1c.6243A>C (p.Gly2081=)
c.5601A>C (p.Gly1867=)
c.5532A>C (p.Gly1844=)
c.318A>C (p.Gly106=)
c.6168A>C (p.Gly2056=)
c.5979A>C (p.Gly1993=)
c.4383A>C (p.Gly1461=)
n.6519A>C
6g.51912456C>ACA364439615PKHD1c.6242G>T (p.Gly2081Val)
c.5600G>T (p.Gly1867Val)
c.5531G>T (p.Gly1844Val)
c.317G>T (p.Gly106Val)
c.6167G>T (p.Gly2056Val)
c.5978G>T (p.Gly1993Val)
c.4382G>T (p.Gly1461Val)
n.6518G>T
6g.51912456C=CA1628583389PKHD1c.6242G= (p.Gly2081=)
c.5600G= (p.Gly1867=)
c.5531G= (p.Gly1844=)
c.317G= (p.Gly106=)
c.6167G= (p.Gly2056=)
c.5978G= (p.Gly1993=)
c.4382G= (p.Gly1461=)
n.6518G=
6g.51912456C>GCA364439616PKHD1c.6242G>C (p.Gly2081Ala)
c.5600G>C (p.Gly1867Ala)
c.5531G>C (p.Gly1844Ala)
c.317G>C (p.Gly106Ala)
c.6167G>C (p.Gly2056Ala)
c.5978G>C (p.Gly1993Ala)
c.4382G>C (p.Gly1461Ala)
n.6518G>C
6g.51912456C>TCA138910840PKHD1c.6242G>A (p.Gly2081Glu)
c.5600G>A (p.Gly1867Glu)
c.5531G>A (p.Gly1844Glu)
c.317G>A (p.Gly106Glu)
c.6167G>A (p.Gly2056Glu)
c.5978G>A (p.Gly1993Glu)
c.4382G>A (p.Gly1461Glu)
n.6518G>A
 dbSNP gnomAD v3 gnomAD v4
6g.51912457C>ACA364439619PKHD1c.6241G>T (p.Gly2081Ter)
c.5599G>T (p.Gly1867Ter)
c.5530G>T (p.Gly1844Ter)
c.316G>T (p.Gly106Ter)
c.6166G>T (p.Gly2056Ter)
c.5977G>T (p.Gly1993Ter)
c.4381G>T (p.Gly1461Ter)
n.6517G>T
6g.51912457C>GCA364439623PKHD1c.6241G>C (p.Gly2081Arg)
c.5599G>C (p.Gly1867Arg)
c.5530G>C (p.Gly1844Arg)
c.316G>C (p.Gly106Arg)
c.6166G>C (p.Gly2056Arg)
c.5977G>C (p.Gly1993Arg)
c.4381G>C (p.Gly1461Arg)
n.6517G>C
6g.51912457C>TCA364439621PKHD1c.6241G>A (p.Gly2081Arg)
c.5599G>A (p.Gly1867Arg)
c.5530G>A (p.Gly1844Arg)
c.316G>A (p.Gly106Arg)
c.6166G>A (p.Gly2056Arg)
c.5977G>A (p.Gly1993Arg)
c.4381G>A (p.Gly1461Arg)
n.6517G>A
6g.51912458A>CCA364439626PKHD1c.6240T>G (p.Ser2080Arg)
c.5598T>G (p.Ser1866Arg)
c.5529T>G (p.Ser1843Arg)
c.315T>G (p.Ser105Arg)
c.6165T>G (p.Ser2055Arg)
c.5976T>G (p.Ser1992Arg)
c.4380T>G (p.Ser1460Arg)
n.6516T>G
6g.51912458A>GCA450415972PKHD1c.6240T>C (p.Ser2080=)
c.5598T>C (p.Ser1866=)
c.5529T>C (p.Ser1843=)
c.315T>C (p.Ser105=)
c.6165T>C (p.Ser2055=)
c.5976T>C (p.Ser1992=)
c.4380T>C (p.Ser1460=)
n.6516T>C
 ClinVar dbSNP gnomAD v4
6g.51912458A>TCA364439627PKHD1c.6240T>A (p.Ser2080Arg)
c.5598T>A (p.Ser1866Arg)
c.5529T>A (p.Ser1843Arg)
c.315T>A (p.Ser105Arg)
c.6165T>A (p.Ser2055Arg)
c.5976T>A (p.Ser1992Arg)
c.4380T>A (p.Ser1460Arg)
n.6516T>A
6g.51912459C>ACA364439630PKHD1c.6239G>T (p.Ser2080Ile)
c.5597G>T (p.Ser1866Ile)
c.5528G>T (p.Ser1843Ile)
c.314G>T (p.Ser105Ile)
c.6164G>T (p.Ser2055Ile)
c.5975G>T (p.Ser1992Ile)
c.4379G>T (p.Ser1460Ile)
n.6515G>T
6g.51912459C>GCA364439631PKHD1c.6239G>C (p.Ser2080Thr)
c.5597G>C (p.Ser1866Thr)
c.5528G>C (p.Ser1843Thr)
c.314G>C (p.Ser105Thr)
c.6164G>C (p.Ser2055Thr)
c.5975G>C (p.Ser1992Thr)
c.4379G>C (p.Ser1460Thr)
n.6515G>C
6g.51912459C>TCA364439634PKHD1c.6239G>A (p.Ser2080Asn)
c.5597G>A (p.Ser1866Asn)
c.5528G>A (p.Ser1843Asn)
c.314G>A (p.Ser105Asn)
c.6164G>A (p.Ser2055Asn)
c.5975G>A (p.Ser1992Asn)
c.4379G>A (p.Ser1460Asn)
n.6515G>A
 COSMIC COSMIC
6g.51912460T>ACA364439637PKHD1c.6238A>T (p.Ser2080Cys)
c.5596A>T (p.Ser1866Cys)
c.5527A>T (p.Ser1843Cys)
c.313A>T (p.Ser105Cys)
c.6163A>T (p.Ser2055Cys)
c.5974A>T (p.Ser1992Cys)
c.4378A>T (p.Ser1460Cys)
n.6514A>T
6g.51912460T>CCA3852310PKHD1c.6238A>G (p.Ser2080Gly)
c.5596A>G (p.Ser1866Gly)
c.5527A>G (p.Ser1843Gly)
c.313A>G (p.Ser105Gly)
c.6163A>G (p.Ser2055Gly)
c.5974A>G (p.Ser1992Gly)
c.4378A>G (p.Ser1460Gly)
n.6514A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912460T>GCA364439640PKHD1c.6238A>C (p.Ser2080Arg)
c.5596A>C (p.Ser1866Arg)
c.5527A>C (p.Ser1843Arg)
c.313A>C (p.Ser105Arg)
c.6163A>C (p.Ser2055Arg)
c.5974A>C (p.Ser1992Arg)
c.4378A>C (p.Ser1460Arg)
n.6514A>C
6g.51912460T=CA1628583392PKHD1c.6238A= (p.Ser2080=)
c.5596A= (p.Ser1866=)
c.5527A= (p.Ser1843=)
c.313A= (p.Ser105=)
c.6163A= (p.Ser2055=)
c.5974A= (p.Ser1992=)
c.4378A= (p.Ser1460=)
n.6514A=
6g.51912466_51912468delCA2597194018PKHD1c.6236_6238del (p.Ile2079del)
c.5594_5596del (p.Ile1865del)
c.5525_5527del (p.Ile1842del)
c.311_313del (p.Ile104del)
c.6161_6163del (p.Ile2054del)
c.5972_5974del (p.Ile1991del)
c.4376_4378del (p.Ile1459del)
n.6512_6514del
 gnomAD v3 gnomAD v4
6g.51912461G>ACA450415973PKHD1c.6237C>T (p.Ile2079=)
c.5595C>T (p.Ile1865=)
c.5526C>T (p.Ile1842=)
c.312C>T (p.Ile104=)
c.6162C>T (p.Ile2054=)
c.5973C>T (p.Ile1991=)
c.4377C>T (p.Ile1459=)
n.6513C>T
6g.51912461G>CCA364439643PKHD1c.6237C>G (p.Ile2079Met)
c.5595C>G (p.Ile1865Met)
c.5526C>G (p.Ile1842Met)
c.312C>G (p.Ile104Met)
c.6162C>G (p.Ile2054Met)
c.5973C>G (p.Ile1991Met)
c.4377C>G (p.Ile1459Met)
n.6513C>G
6g.51912461G>TCA450415974PKHD1c.6237C>A (p.Ile2079=)
c.5595C>A (p.Ile1865=)
c.5526C>A (p.Ile1842=)
c.312C>A (p.Ile104=)
c.6162C>A (p.Ile2054=)
c.5973C>A (p.Ile1991=)
c.4377C>A (p.Ile1459=)
n.6513C>A
6g.51912462A>CCA364439646PKHD1c.6236T>G (p.Ile2079Ser)
c.5594T>G (p.Ile1865Ser)
c.5525T>G (p.Ile1842Ser)
c.311T>G (p.Ile104Ser)
c.6161T>G (p.Ile2054Ser)
c.5972T>G (p.Ile1991Ser)
c.4376T>G (p.Ile1459Ser)
n.6512T>G
6g.51912462A>GCA364439648PKHD1c.6236T>C (p.Ile2079Thr)
c.5594T>C (p.Ile1865Thr)
c.5525T>C (p.Ile1842Thr)
c.311T>C (p.Ile104Thr)
c.6161T>C (p.Ile2054Thr)
c.5972T>C (p.Ile1991Thr)
c.4376T>C (p.Ile1459Thr)
n.6512T>C
6g.51912462A>TCA364439650PKHD1c.6236T>A (p.Ile2079Asn)
c.5594T>A (p.Ile1865Asn)
c.5525T>A (p.Ile1842Asn)
c.311T>A (p.Ile104Asn)
c.6161T>A (p.Ile2054Asn)
c.5972T>A (p.Ile1991Asn)
c.4376T>A (p.Ile1459Asn)
n.6512T>A
6g.51912463T>ACA364439652PKHD1c.6235A>T (p.Ile2079Phe)
c.5593A>T (p.Ile1865Phe)
c.5524A>T (p.Ile1842Phe)
c.310A>T (p.Ile104Phe)
c.6160A>T (p.Ile2054Phe)
c.5971A>T (p.Ile1991Phe)
c.4375A>T (p.Ile1459Phe)
n.6511A>T
6g.51912463T>CCA3852311PKHD1c.6235A>G (p.Ile2079Val)
c.5593A>G (p.Ile1865Val)
c.5524A>G (p.Ile1842Val)
c.310A>G (p.Ile104Val)
c.6160A>G (p.Ile2054Val)
c.5971A>G (p.Ile1991Val)
c.4375A>G (p.Ile1459Val)
n.6511A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51912463T>GCA364439655PKHD1c.6235A>C (p.Ile2079Leu)
c.5593A>C (p.Ile1865Leu)
c.5524A>C (p.Ile1842Leu)
c.310A>C (p.Ile104Leu)
c.6160A>C (p.Ile2054Leu)
c.5971A>C (p.Ile1991Leu)
c.4375A>C (p.Ile1459Leu)
n.6511A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51912463T=CA1628583394PKHD1c.6235A= (p.Ile2079=)
c.5593A= (p.Ile1865=)
c.5524A= (p.Ile1842=)
c.310A= (p.Ile104=)
c.6160A= (p.Ile2054=)
c.5971A= (p.Ile1991=)
c.4375A= (p.Ile1459=)
n.6511A=
6g.51912464delCA2679081921PKHD1c.6234del (p.Ile2079SerfsTer?)
c.5592del (p.Ile1865SerfsTer?)
c.5523del (p.Ile1842SerfsTer?)
c.309del (p.Ile104SerfsTer?)
c.6159del (p.Ile2054SerfsTer?)
c.5970del (p.Ile1991SerfsTer?)
c.4374del (p.Ile1459SerfsTer?)
n.6510del
 gnomAD v4
6g.51912464G>ACA450415975PKHD1c.6234C>T (p.Ile2078=)
c.5592C>T (p.Ile1864=)
c.5523C>T (p.Ile1841=)
c.309C>T (p.Ile103=)
c.6159C>T (p.Ile2053=)
c.5970C>T (p.Ile1990=)
c.4374C>T (p.Ile1458=)
n.6510C>T
 ClinVar gnomAD v4
6g.51912464G>CCA364439658PKHD1c.6234C>G (p.Ile2078Met)
c.5592C>G (p.Ile1864Met)
c.5523C>G (p.Ile1841Met)
c.309C>G (p.Ile103Met)
c.6159C>G (p.Ile2053Met)
c.5970C>G (p.Ile1990Met)
c.4374C>G (p.Ile1458Met)
n.6510C>G
 dbSNP gnomAD v4
6g.51912464G=CA1628583397PKHD1c.6234C= (p.Ile2078=)
c.5592C= (p.Ile1864=)
c.5523C= (p.Ile1841=)
c.309C= (p.Ile103=)
c.6159C= (p.Ile2053=)
c.5970C= (p.Ile1990=)
c.4374C= (p.Ile1458=)
n.6510C=
6g.51912464G>TCA450415976PKHD1c.6234C>A (p.Ile2078=)
c.5592C>A (p.Ile1864=)
c.5523C>A (p.Ile1841=)
c.309C>A (p.Ile103=)
c.6159C>A (p.Ile2053=)
c.5970C>A (p.Ile1990=)
c.4374C>A (p.Ile1458=)
n.6510C>A
6g.51912465A>CCA364439660PKHD1c.6233T>G (p.Ile2078Ser)
c.5591T>G (p.Ile1864Ser)
c.5522T>G (p.Ile1841Ser)
c.308T>G (p.Ile103Ser)
c.6158T>G (p.Ile2053Ser)
c.5969T>G (p.Ile1990Ser)
c.4373T>G (p.Ile1458Ser)
n.6509T>G
6g.51912465A>GCA364439662PKHD1c.6233T>C (p.Ile2078Thr)
c.5591T>C (p.Ile1864Thr)
c.5522T>C (p.Ile1841Thr)
c.308T>C (p.Ile103Thr)
c.6158T>C (p.Ile2053Thr)
c.5969T>C (p.Ile1990Thr)
c.4373T>C (p.Ile1458Thr)
n.6509T>C
6g.51912465A>TCA364439664PKHD1c.6233T>A (p.Ile2078Asn)
c.5591T>A (p.Ile1864Asn)
c.5522T>A (p.Ile1841Asn)
c.308T>A (p.Ile103Asn)
c.6158T>A (p.Ile2053Asn)
c.5969T>A (p.Ile1990Asn)
c.4373T>A (p.Ile1458Asn)
n.6509T>A
6g.51912466T>ACA364439666PKHD1c.6232A>T (p.Ile2078Phe)
c.5590A>T (p.Ile1864Phe)
c.5521A>T (p.Ile1841Phe)
c.307A>T (p.Ile103Phe)
c.6157A>T (p.Ile2053Phe)
c.5968A>T (p.Ile1990Phe)
c.4372A>T (p.Ile1458Phe)
n.6508A>T
6g.51912466T>CCA364439669PKHD1c.6232A>G (p.Ile2078Val)
c.5590A>G (p.Ile1864Val)
c.5521A>G (p.Ile1841Val)
c.307A>G (p.Ile103Val)
c.6157A>G (p.Ile2053Val)
c.5968A>G (p.Ile1990Val)
c.4372A>G (p.Ile1458Val)
n.6508A>G
6g.51912466T>GCA364439671PKHD1c.6232A>C (p.Ile2078Leu)
c.5590A>C (p.Ile1864Leu)
c.5521A>C (p.Ile1841Leu)
c.307A>C (p.Ile103Leu)
c.6157A>C (p.Ile2053Leu)
c.5968A>C (p.Ile1990Leu)
c.4372A>C (p.Ile1458Leu)
n.6508A>C
6g.51912467G>ACA450415977PKHD1c.6231C>T (p.Val2077=)
c.5589C>T (p.Val1863=)
c.5520C>T (p.Val1840=)
c.306C>T (p.Val102=)
c.6156C>T (p.Val2052=)
c.5967C>T (p.Val1989=)
c.4371C>T (p.Val1457=)
n.6507C>T
 gnomAD v4
6g.51912467G>CCA450415979PKHD1c.6231C>G (p.Val2077=)
c.5589C>G (p.Val1863=)
c.5520C>G (p.Val1840=)
c.306C>G (p.Val102=)
c.6156C>G (p.Val2052=)
c.5967C>G (p.Val1989=)
c.4371C>G (p.Val1457=)
n.6507C>G
 dbSNP gnomAD v2
6g.51912467G=CA1628583400PKHD1c.6231C= (p.Val2077=)
c.5589C= (p.Val1863=)
c.5520C= (p.Val1840=)
c.306C= (p.Val102=)
c.6156C= (p.Val2052=)
c.5967C= (p.Val1989=)
c.4371C= (p.Val1457=)
n.6507C=
6g.51912467G>TCA450415978PKHD1c.6231C>A (p.Val2077=)
c.5589C>A (p.Val1863=)
c.5520C>A (p.Val1840=)
c.306C>A (p.Val102=)
c.6156C>A (p.Val2052=)
c.5967C>A (p.Val1989=)
c.4371C>A (p.Val1457=)
n.6507C>A
6g.51912468A>CCA364439673PKHD1c.6230T>G (p.Val2077Gly)
c.5588T>G (p.Val1863Gly)
c.5519T>G (p.Val1840Gly)
c.305T>G (p.Val102Gly)
c.6155T>G (p.Val2052Gly)
c.5966T>G (p.Val1989Gly)
c.4370T>G (p.Val1457Gly)
n.6506T>G
6g.51912468A>GCA364439674PKHD1c.6230T>C (p.Val2077Ala)
c.5588T>C (p.Val1863Ala)
c.5519T>C (p.Val1840Ala)
c.305T>C (p.Val102Ala)
c.6155T>C (p.Val2052Ala)
c.5966T>C (p.Val1989Ala)
c.4370T>C (p.Val1457Ala)
n.6506T>C
6g.51912468A>TCA364439676PKHD1c.6230T>A (p.Val2077Asp)
c.5588T>A (p.Val1863Asp)
c.5519T>A (p.Val1840Asp)
c.305T>A (p.Val102Asp)
c.6155T>A (p.Val2052Asp)
c.5966T>A (p.Val1989Asp)
c.4370T>A (p.Val1457Asp)
n.6506T>A
6g.51912469C>ACA364439680PKHD1c.6229G>T (p.Val2077Phe)
c.5587G>T (p.Val1863Phe)
c.5518G>T (p.Val1840Phe)
c.304G>T (p.Val102Phe)
c.6154G>T (p.Val2052Phe)
c.5965G>T (p.Val1989Phe)
c.4369G>T (p.Val1457Phe)
n.6505G>T
 gnomAD v4
6g.51912469C>GCA364439681PKHD1c.6229G>C (p.Val2077Leu)
c.5587G>C (p.Val1863Leu)
c.5518G>C (p.Val1840Leu)
c.304G>C (p.Val102Leu)
c.6154G>C (p.Val2052Leu)
c.5965G>C (p.Val1989Leu)
c.4369G>C (p.Val1457Leu)
n.6505G>C
6g.51912469C>TCA364439683PKHD1c.6229G>A (p.Val2077Ile)
c.5587G>A (p.Val1863Ile)
c.5518G>A (p.Val1840Ile)
c.304G>A (p.Val102Ile)
c.6154G>A (p.Val2052Ile)
c.5965G>A (p.Val1989Ile)
c.4369G>A (p.Val1457Ile)
n.6505G>A
6g.51912470A>CCA450415980PKHD1c.6228T>G (p.Val2076=)
c.5586T>G (p.Val1862=)
c.5517T>G (p.Val1839=)
c.303T>G (p.Val101=)
c.6153T>G (p.Val2051=)
c.5964T>G (p.Val1988=)
c.4368T>G (p.Val1456=)
n.6504T>G
6g.51912470A>GCA450415981PKHD1c.6228T>C (p.Val2076=)
c.5586T>C (p.Val1862=)
c.5517T>C (p.Val1839=)
c.303T>C (p.Val101=)
c.6153T>C (p.Val2051=)
c.5964T>C (p.Val1988=)
c.4368T>C (p.Val1456=)
n.6504T>C
6g.51912470A>TCA450415982PKHD1c.6228T>A (p.Val2076=)
c.5586T>A (p.Val1862=)
c.5517T>A (p.Val1839=)
c.303T>A (p.Val101=)
c.6153T>A (p.Val2051=)
c.5964T>A (p.Val1988=)
c.4368T>A (p.Val1456=)
n.6504T>A
6g.51912471A=CA1628583403PKHD1c.6227T= (p.Val2076=)
c.5585T= (p.Val1862=)
c.5516T= (p.Val1839=)
c.302T= (p.Val101=)
c.6152T= (p.Val2051=)
c.5963T= (p.Val1988=)
c.4367T= (p.Val1456=)
n.6503T=
6g.51912471A>CCA364439691PKHD1c.6227T>G (p.Val2076Gly)
c.5585T>G (p.Val1862Gly)
c.5516T>G (p.Val1839Gly)
c.302T>G (p.Val101Gly)
c.6152T>G (p.Val2051Gly)
c.5963T>G (p.Val1988Gly)
c.4367T>G (p.Val1456Gly)
n.6503T>G
6g.51912471A>GCA364439689PKHD1c.6227T>C (p.Val2076Ala)
c.5585T>C (p.Val1862Ala)
c.5516T>C (p.Val1839Ala)
c.302T>C (p.Val101Ala)
c.6152T>C (p.Val2051Ala)
c.5963T>C (p.Val1988Ala)
c.4367T>C (p.Val1456Ala)
n.6503T>C
 dbSNP gnomAD v2 gnomAD v4
6g.51912471A>TCA364439687PKHD1c.6227T>A (p.Val2076Asp)
c.5585T>A (p.Val1862Asp)
c.5516T>A (p.Val1839Asp)
c.302T>A (p.Val101Asp)
c.6152T>A (p.Val2051Asp)
c.5963T>A (p.Val1988Asp)
c.4367T>A (p.Val1456Asp)
n.6503T>A
6g.51912472C>ACA364439694PKHD1c.6226G>T (p.Val2076Phe)
c.5584G>T (p.Val1862Phe)
c.5515G>T (p.Val1839Phe)
c.301G>T (p.Val101Phe)
c.6151G>T (p.Val2051Phe)
c.5962G>T (p.Val1988Phe)
c.4366G>T (p.Val1456Phe)
n.6502G>T
6g.51912472C>GCA364439696PKHD1c.6226G>C (p.Val2076Leu)
c.5584G>C (p.Val1862Leu)
c.5515G>C (p.Val1839Leu)
c.301G>C (p.Val101Leu)
c.6151G>C (p.Val2051Leu)
c.5962G>C (p.Val1988Leu)
c.4366G>C (p.Val1456Leu)
n.6502G>C
6g.51912472C>TCA364439698PKHD1c.6226G>A (p.Val2076Ile)
c.5584G>A (p.Val1862Ile)
c.5515G>A (p.Val1839Ile)
c.301G>A (p.Val101Ile)
c.6151G>A (p.Val2051Ile)
c.5962G>A (p.Val1988Ile)
c.4366G>A (p.Val1456Ile)
n.6502G>A
 ClinVar
6g.51912473T>ACA364439701PKHD1c.6225A>T (p.Glu2075Asp)
c.5583A>T (p.Glu1861Asp)
c.5514A>T (p.Glu1838Asp)
c.300A>T (p.Glu100Asp)
c.6150A>T (p.Glu2050Asp)
c.5961A>T (p.Glu1987Asp)
c.4365A>T (p.Glu1455Asp)
n.6501A>T
6g.51912473T>CCA450415983PKHD1c.6225A>G (p.Glu2075=)
c.5583A>G (p.Glu1861=)
c.5514A>G (p.Glu1838=)
c.300A>G (p.Glu100=)
c.6150A>G (p.Glu2050=)
c.5961A>G (p.Glu1987=)
c.4365A>G (p.Glu1455=)
n.6501A>G
 ClinVar gnomAD v4
6g.51912473T>GCA364439703PKHD1c.6225A>C (p.Glu2075Asp)
c.5583A>C (p.Glu1861Asp)
c.5514A>C (p.Glu1838Asp)
c.300A>C (p.Glu100Asp)
c.6150A>C (p.Glu2050Asp)
c.5961A>C (p.Glu1987Asp)
c.4365A>C (p.Glu1455Asp)
n.6501A>C
6g.51912474T>ACA364439706PKHD1c.6224A>T (p.Glu2075Val)
c.5582A>T (p.Glu1861Val)
c.5513A>T (p.Glu1838Val)
c.299A>T (p.Glu100Val)
c.6149A>T (p.Glu2050Val)
c.5960A>T (p.Glu1987Val)
c.4364A>T (p.Glu1455Val)
n.6500A>T
6g.51912474T>CCA364439708PKHD1c.6224A>G (p.Glu2075Gly)
c.5582A>G (p.Glu1861Gly)
c.5513A>G (p.Glu1838Gly)
c.299A>G (p.Glu100Gly)
c.6149A>G (p.Glu2050Gly)
c.5960A>G (p.Glu1987Gly)
c.4364A>G (p.Glu1455Gly)
n.6500A>G
6g.51912474T>GCA364439709PKHD1c.6224A>C (p.Glu2075Ala)
c.5582A>C (p.Glu1861Ala)
c.5513A>C (p.Glu1838Ala)
c.299A>C (p.Glu100Ala)
c.6149A>C (p.Glu2050Ala)
c.5960A>C (p.Glu1987Ala)
c.4364A>C (p.Glu1455Ala)
n.6500A>C
6g.51912475C>ACA364439712PKHD1c.6223G>T (p.Glu2075Ter)
c.5581G>T (p.Glu1861Ter)
c.5512G>T (p.Glu1838Ter)
c.298G>T (p.Glu100Ter)
c.6148G>T (p.Glu2050Ter)
c.5959G>T (p.Glu1987Ter)
c.4363G>T (p.Glu1455Ter)
n.6499G>T
6g.51912475C>GCA364439714PKHD1c.6223G>C (p.Glu2075Gln)
c.5581G>C (p.Glu1861Gln)
c.5512G>C (p.Glu1838Gln)
c.298G>C (p.Glu100Gln)
c.6148G>C (p.Glu2050Gln)
c.5959G>C (p.Glu1987Gln)
c.4363G>C (p.Glu1455Gln)
n.6499G>C
6g.51912475C>TCA364439716PKHD1c.6223G>A (p.Glu2075Lys)
c.5581G>A (p.Glu1861Lys)
c.5512G>A (p.Glu1838Lys)
c.298G>A (p.Glu100Lys)
c.6148G>A (p.Glu2050Lys)
c.5959G>A (p.Glu1987Lys)
c.4363G>A (p.Glu1455Lys)
n.6499G>A
6g.51912476A>CCA364439718PKHD1c.6222T>G (p.Asp2074Glu)
c.5580T>G (p.Asp1860Glu)
c.5511T>G (p.Asp1837Glu)
c.297T>G (p.Asp99Glu)
c.6147T>G (p.Asp2049Glu)
c.5958T>G (p.Asp1986Glu)
c.4362T>G (p.Asp1454Glu)
n.6498T>G
6g.51912476A>GCA450415984PKHD1c.6222T>C (p.Asp2074=)
c.5580T>C (p.Asp1860=)
c.5511T>C (p.Asp1837=)
c.297T>C (p.Asp99=)
c.6147T>C (p.Asp2049=)
c.5958T>C (p.Asp1986=)
c.4362T>C (p.Asp1454=)
n.6498T>C
 gnomAD v4
6g.51912476A>TCA364439720PKHD1c.6222T>A (p.Asp2074Glu)
c.5580T>A (p.Asp1860Glu)
c.5511T>A (p.Asp1837Glu)
c.297T>A (p.Asp99Glu)
c.6147T>A (p.Asp2049Glu)
c.5958T>A (p.Asp1986Glu)
c.4362T>A (p.Asp1454Glu)
n.6498T>A
 gnomAD v4
6g.51912477T>ACA364439723PKHD1c.6221A>T (p.Asp2074Val)
c.5579A>T (p.Asp1860Val)
c.5510A>T (p.Asp1837Val)
c.296A>T (p.Asp99Val)
c.6146A>T (p.Asp2049Val)
c.5957A>T (p.Asp1986Val)
c.4361A>T (p.Asp1454Val)
n.6497A>T
6g.51912477T>CCA364439727PKHD1c.6221A>G (p.Asp2074Gly)
c.5579A>G (p.Asp1860Gly)
c.5510A>G (p.Asp1837Gly)
c.296A>G (p.Asp99Gly)
c.6146A>G (p.Asp2049Gly)
c.5957A>G (p.Asp1986Gly)
c.4361A>G (p.Asp1454Gly)
n.6497A>G
6g.51912477T>GCA364439724PKHD1c.6221A>C (p.Asp2074Ala)
c.5579A>C (p.Asp1860Ala)
c.5510A>C (p.Asp1837Ala)
c.296A>C (p.Asp99Ala)
c.6146A>C (p.Asp2049Ala)
c.5957A>C (p.Asp1986Ala)
c.4361A>C (p.Asp1454Ala)
n.6497A>C
6g.51912478C>ACA364439729PKHD1c.6220G>T (p.Asp2074Tyr)
c.5578G>T (p.Asp1860Tyr)
c.5509G>T (p.Asp1837Tyr)
c.295G>T (p.Asp99Tyr)
c.6145G>T (p.Asp2049Tyr)
c.5956G>T (p.Asp1986Tyr)
c.4360G>T (p.Asp1454Tyr)
n.6496G>T
6g.51912478C>GCA364439732PKHD1c.6220G>C (p.Asp2074His)
c.5578G>C (p.Asp1860His)
c.5509G>C (p.Asp1837His)
c.295G>C (p.Asp99His)
c.6145G>C (p.Asp2049His)
c.5956G>C (p.Asp1986His)
c.4360G>C (p.Asp1454His)
n.6496G>C
6g.51912478C>TCA364439734PKHD1c.6220G>A (p.Asp2074Asn)
c.5578G>A (p.Asp1860Asn)
c.5509G>A (p.Asp1837Asn)
c.295G>A (p.Asp99Asn)
c.6145G>A (p.Asp2049Asn)
c.5956G>A (p.Asp1986Asn)
c.4360G>A (p.Asp1454Asn)
n.6496G>A
 COSMIC COSMIC
6g.51912479C>ACA450415985PKHD1c.6219G>T (p.Gly2073=)
c.5577G>T (p.Gly1859=)
c.5508G>T (p.Gly1836=)
c.294G>T (p.Gly98=)
c.6144G>T (p.Gly2048=)
c.5955G>T (p.Gly1985=)
c.4359G>T (p.Gly1453=)
n.6495G>T
6g.51912479C>GCA450415986PKHD1c.6219G>C (p.Gly2073=)
c.5577G>C (p.Gly1859=)
c.5508G>C (p.Gly1836=)
c.294G>C (p.Gly98=)
c.6144G>C (p.Gly2048=)
c.5955G>C (p.Gly1985=)
c.4359G>C (p.Gly1453=)
n.6495G>C
6g.51912479C>TCA450415987PKHD1c.6219G>A (p.Gly2073=)
c.5577G>A (p.Gly1859=)
c.5508G>A (p.Gly1836=)
c.294G>A (p.Gly98=)
c.6144G>A (p.Gly2048=)
c.5955G>A (p.Gly1985=)
c.4359G>A (p.Gly1453=)
n.6495G>A
6g.51912480C>ACA364439737PKHD1c.6218G>T (p.Gly2073Val)
c.5576G>T (p.Gly1859Val)
c.5507G>T (p.Gly1836Val)
c.293G>T (p.Gly98Val)
c.6143G>T (p.Gly2048Val)
c.5954G>T (p.Gly1985Val)
c.4358G>T (p.Gly1453Val)
n.6494G>T
6g.51912480C=CA1628583405PKHD1c.6218G= (p.Gly2073=)
c.5576G= (p.Gly1859=)
c.5507G= (p.Gly1836=)
c.293G= (p.Gly98=)
c.6143G= (p.Gly2048=)
c.5954G= (p.Gly1985=)
c.4358G= (p.Gly1453=)
n.6494G=
6g.51912480C>GCA364439739PKHD1c.6218G>C (p.Gly2073Ala)
c.5576G>C (p.Gly1859Ala)
c.5507G>C (p.Gly1836Ala)
c.293G>C (p.Gly98Ala)
c.6143G>C (p.Gly2048Ala)
c.5954G>C (p.Gly1985Ala)
c.4358G>C (p.Gly1453Ala)
n.6494G>C
6g.51912480C>TCA364439742PKHD1c.6218G>A (p.Gly2073Glu)
c.5576G>A (p.Gly1859Glu)
c.5507G>A (p.Gly1836Glu)
c.293G>A (p.Gly98Glu)
c.6143G>A (p.Gly2048Glu)
c.5954G>A (p.Gly1985Glu)
c.4358G>A (p.Gly1453Glu)
n.6494G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51912481C>ACA364439745PKHD1c.6217G>T (p.Gly2073Trp)
c.5575G>T (p.Gly1859Trp)
c.5506G>T (p.Gly1836Trp)
c.292G>T (p.Gly98Trp)
c.6142G>T (p.Gly2048Trp)
c.5953G>T (p.Gly1985Trp)
c.4357G>T (p.Gly1453Trp)
n.6493G>T
6g.51912481C=CA1628583411PKHD1c.6217G= (p.Gly2073=)
c.5575G= (p.Gly1859=)
c.5506G= (p.Gly1836=)
c.292G= (p.Gly98=)
c.6142G= (p.Gly2048=)
c.5953G= (p.Gly1985=)
c.4357G= (p.Gly1453=)
n.6493G=
6g.51912481C>GCA364439747PKHD1c.6217G>C (p.Gly2073Arg)
c.5575G>C (p.Gly1859Arg)
c.5506G>C (p.Gly1836Arg)
c.292G>C (p.Gly98Arg)
c.6142G>C (p.Gly2048Arg)
c.5953G>C (p.Gly1985Arg)
c.4357G>C (p.Gly1453Arg)
n.6493G>C
6g.51912481C>TCA3852312PKHD1c.6217G>A (p.Gly2073Arg)
c.5575G>A (p.Gly1859Arg)
c.5506G>A (p.Gly1836Arg)
c.292G>A (p.Gly98Arg)
c.6142G>A (p.Gly2048Arg)
c.5953G>A (p.Gly1985Arg)
c.4357G>A (p.Gly1453Arg)
n.6493G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912482A=CA1628583422PKHD1c.6216T= (p.Pro2072=)
c.5574T= (p.Pro1858=)
c.5505T= (p.Pro1835=)
c.291T= (p.Pro97=)
c.6141T= (p.Pro2047=)
c.5952T= (p.Pro1984=)
c.4356T= (p.Pro1452=)
n.6492T=
6g.51912482A>CCA244961PKHD1c.6216T>G (p.Pro2072=)
c.5574T>G (p.Pro1858=)
c.5505T>G (p.Pro1835=)
c.291T>G (p.Pro97=)
c.6141T>G (p.Pro2047=)
c.5952T>G (p.Pro1984=)
c.4356T>G (p.Pro1452=)
n.6492T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912482A>GCA450415988PKHD1c.6216T>C (p.Pro2072=)
c.5574T>C (p.Pro1858=)
c.5505T>C (p.Pro1835=)
c.291T>C (p.Pro97=)
c.6141T>C (p.Pro2047=)
c.5952T>C (p.Pro1984=)
c.4356T>C (p.Pro1452=)
n.6492T>C
 dbSNP
6g.51912482A>TCA450415989PKHD1c.6216T>A (p.Pro2072=)
c.5574T>A (p.Pro1858=)
c.5505T>A (p.Pro1835=)
c.291T>A (p.Pro97=)
c.6141T>A (p.Pro2047=)
c.5952T>A (p.Pro1984=)
c.4356T>A (p.Pro1452=)
n.6492T>A
6g.51912483G>ACA364439757PKHD1c.6215C>T (p.Pro2072Leu)
c.5573C>T (p.Pro1858Leu)
c.5504C>T (p.Pro1835Leu)
c.290C>T (p.Pro97Leu)
c.6140C>T (p.Pro2047Leu)
c.5951C>T (p.Pro1984Leu)
c.4355C>T (p.Pro1452Leu)
n.6491C>T
 COSMIC COSMIC
6g.51912483G>CCA364439755PKHD1c.6215C>G (p.Pro2072Arg)
c.5573C>G (p.Pro1858Arg)
c.5504C>G (p.Pro1835Arg)
c.290C>G (p.Pro97Arg)
c.6140C>G (p.Pro2047Arg)
c.5951C>G (p.Pro1984Arg)
c.4355C>G (p.Pro1452Arg)
n.6491C>G
 gnomAD v4
6g.51912483G>TCA364439752PKHD1c.6215C>A (p.Pro2072His)
c.5573C>A (p.Pro1858His)
c.5504C>A (p.Pro1835His)
c.290C>A (p.Pro97His)
c.6140C>A (p.Pro2047His)
c.5951C>A (p.Pro1984His)
c.4355C>A (p.Pro1452His)
n.6491C>A
 COSMIC COSMIC
6g.51912484G>ACA364439759PKHD1c.6214C>T (p.Pro2072Ser)
c.5572C>T (p.Pro1858Ser)
c.5503C>T (p.Pro1835Ser)
c.289C>T (p.Pro97Ser)
c.6139C>T (p.Pro2047Ser)
c.5950C>T (p.Pro1984Ser)
c.4354C>T (p.Pro1452Ser)
n.6490C>T
6g.51912484G>CCA364439764PKHD1c.6214C>G (p.Pro2072Ala)
c.5572C>G (p.Pro1858Ala)
c.5503C>G (p.Pro1835Ala)
c.289C>G (p.Pro97Ala)
c.6139C>G (p.Pro2047Ala)
c.5950C>G (p.Pro1984Ala)
c.4354C>G (p.Pro1452Ala)
n.6490C>G
6g.51912484G>TCA364439762PKHD1c.6214C>A (p.Pro2072Thr)
c.5572C>A (p.Pro1858Thr)
c.5503C>A (p.Pro1835Thr)
c.289C>A (p.Pro97Thr)
c.6139C>A (p.Pro2047Thr)
c.5950C>A (p.Pro1984Thr)
c.4354C>A (p.Pro1452Thr)
n.6490C>A
6g.51912485G>ACA450415990PKHD1c.6213C>T (p.Asn2071=)
c.5571C>T (p.Asn1857=)
c.5502C>T (p.Asn1834=)
c.288C>T (p.Asn96=)
c.6138C>T (p.Asn2046=)
c.5949C>T (p.Asn1983=)
c.4353C>T (p.Asn1451=)
n.6489C>T
 gnomAD v4
6g.51912485G>CCA364439767PKHD1c.6213C>G (p.Asn2071Lys)
c.5571C>G (p.Asn1857Lys)
c.5502C>G (p.Asn1834Lys)
c.288C>G (p.Asn96Lys)
c.6138C>G (p.Asn2046Lys)
c.5949C>G (p.Asn1983Lys)
c.4353C>G (p.Asn1451Lys)
n.6489C>G
6g.51912485G>TCA364439769PKHD1c.6213C>A (p.Asn2071Lys)
c.5571C>A (p.Asn1857Lys)
c.5502C>A (p.Asn1834Lys)
c.288C>A (p.Asn96Lys)
c.6138C>A (p.Asn2046Lys)
c.5949C>A (p.Asn1983Lys)
c.4353C>A (p.Asn1451Lys)
n.6489C>A
6g.51912486T>ACA364439770PKHD1c.6212A>T (p.Asn2071Ile)
c.5570A>T (p.Asn1857Ile)
c.5501A>T (p.Asn1834Ile)
c.287A>T (p.Asn96Ile)
c.6137A>T (p.Asn2046Ile)
c.5948A>T (p.Asn1983Ile)
c.4352A>T (p.Asn1451Ile)
n.6488A>T
6g.51912486T>CCA364439772PKHD1c.6212A>G (p.Asn2071Ser)
c.5570A>G (p.Asn1857Ser)
c.5501A>G (p.Asn1834Ser)
c.287A>G (p.Asn96Ser)
c.6137A>G (p.Asn2046Ser)
c.5948A>G (p.Asn1983Ser)
c.4352A>G (p.Asn1451Ser)
n.6488A>G
6g.51912486T>GCA364439773PKHD1c.6212A>C (p.Asn2071Thr)
c.5570A>C (p.Asn1857Thr)
c.5501A>C (p.Asn1834Thr)
c.287A>C (p.Asn96Thr)
c.6137A>C (p.Asn2046Thr)
c.5948A>C (p.Asn1983Thr)
c.4352A>C (p.Asn1451Thr)
n.6488A>C
6g.51912487T>ACA364439776PKHD1c.6211A>T (p.Asn2071Tyr)
c.5569A>T (p.Asn1857Tyr)
c.5500A>T (p.Asn1834Tyr)
c.286A>T (p.Asn96Tyr)
c.6136A>T (p.Asn2046Tyr)
c.5947A>T (p.Asn1983Tyr)
c.4351A>T (p.Asn1451Tyr)
n.6487A>T
 gnomAD v4
6g.51912487T>CCA364439778PKHD1c.6211A>G (p.Asn2071Asp)
c.5569A>G (p.Asn1857Asp)
c.5500A>G (p.Asn1834Asp)
c.286A>G (p.Asn96Asp)
c.6136A>G (p.Asn2046Asp)
c.5947A>G (p.Asn1983Asp)
c.4351A>G (p.Asn1451Asp)
n.6487A>G
6g.51912487T>GCA3852313PKHD1c.6211A>C (p.Asn2071His)
c.5569A>C (p.Asn1857His)
c.5500A>C (p.Asn1834His)
c.286A>C (p.Asn96His)
c.6136A>C (p.Asn2046His)
c.5947A>C (p.Asn1983His)
c.4351A>C (p.Asn1451His)
n.6487A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912487T=CA1628583427PKHD1c.6211A= (p.Asn2071=)
c.5569A= (p.Asn1857=)
c.5500A= (p.Asn1834=)
c.286A= (p.Asn96=)
c.6136A= (p.Asn2046=)
c.5947A= (p.Asn1983=)
c.4351A= (p.Asn1451=)
n.6487A=
6g.51912488C>ACA364439784PKHD1c.6210G>T (p.Trp2070Cys)
c.5568G>T (p.Trp1856Cys)
c.5499G>T (p.Trp1833Cys)
c.285G>T (p.Trp95Cys)
c.6135G>T (p.Trp2045Cys)
c.5946G>T (p.Trp1982Cys)
c.4350G>T (p.Trp1450Cys)
n.6486G>T
6g.51912488C>GCA364439786PKHD1c.6210G>C (p.Trp2070Cys)
c.5568G>C (p.Trp1856Cys)
c.5499G>C (p.Trp1833Cys)
c.285G>C (p.Trp95Cys)
c.6135G>C (p.Trp2045Cys)
c.5946G>C (p.Trp1982Cys)
c.4350G>C (p.Trp1450Cys)
n.6486G>C
6g.51912488C>TCA364439787PKHD1c.6210G>A (p.Trp2070Ter)
c.5568G>A (p.Trp1856Ter)
c.5499G>A (p.Trp1833Ter)
c.285G>A (p.Trp95Ter)
c.6135G>A (p.Trp2045Ter)
c.5946G>A (p.Trp1982Ter)
c.4350G>A (p.Trp1450Ter)
n.6486G>A
 ClinVar
6g.51912489dupCA138910847PKHD1c.6210dup (p.Asn2071GlufsTer5)
c.5568dup (p.Asn1857GlufsTer5)
c.5499dup (p.Asn1834GlufsTer5)
c.285dup (p.Asn96GlufsTer5)
c.6135dup (p.Asn2046GlufsTer5)
c.5946dup (p.Asn1983GlufsTer5)
c.4350dup (p.Asn1451GlufsTer5)
n.6486dup
 dbSNP
6g.51912489C>ACA364439794PKHD1c.6209G>T (p.Trp2070Leu)
c.5567G>T (p.Trp1856Leu)
c.5498G>T (p.Trp1833Leu)
c.284G>T (p.Trp95Leu)
c.6134G>T (p.Trp2045Leu)
c.5945G>T (p.Trp1982Leu)
c.4349G>T (p.Trp1450Leu)
n.6485G>T
6g.51912489C>GCA364439790PKHD1c.6209G>C (p.Trp2070Ser)
c.5567G>C (p.Trp1856Ser)
c.5498G>C (p.Trp1833Ser)
c.284G>C (p.Trp95Ser)
c.6134G>C (p.Trp2045Ser)
c.5945G>C (p.Trp1982Ser)
c.4349G>C (p.Trp1450Ser)
n.6485G>C
6g.51912489C>TCA364439792PKHD1c.6209G>A (p.Trp2070Ter)
c.5567G>A (p.Trp1856Ter)
c.5498G>A (p.Trp1833Ter)
c.284G>A (p.Trp95Ter)
c.6134G>A (p.Trp2045Ter)
c.5945G>A (p.Trp1982Ter)
c.4349G>A (p.Trp1450Ter)
n.6485G>A
 ClinVar
6g.51912490A>CCA364439797PKHD1c.6208T>G (p.Trp2070Gly)
c.5566T>G (p.Trp1856Gly)
c.5497T>G (p.Trp1833Gly)
c.283T>G (p.Trp95Gly)
c.6133T>G (p.Trp2045Gly)
c.5944T>G (p.Trp1982Gly)
c.4348T>G (p.Trp1450Gly)
n.6484T>G
6g.51912490A>GCA364439798PKHD1c.6208T>C (p.Trp2070Arg)
c.5566T>C (p.Trp1856Arg)
c.5497T>C (p.Trp1833Arg)
c.283T>C (p.Trp95Arg)
c.6133T>C (p.Trp2045Arg)
c.5944T>C (p.Trp1982Arg)
c.4348T>C (p.Trp1450Arg)
n.6484T>C
6g.51912490A>TCA364439800PKHD1c.6208T>A (p.Trp2070Arg)
c.5566T>A (p.Trp1856Arg)
c.5497T>A (p.Trp1833Arg)
c.283T>A (p.Trp95Arg)
c.6133T>A (p.Trp2045Arg)
c.5944T>A (p.Trp1982Arg)
c.4348T>A (p.Trp1450Arg)
n.6484T>A
6g.51912491G>ACA450415991PKHD1c.6207C>T (p.Asp2069=)
c.5565C>T (p.Asp1855=)
c.5496C>T (p.Asp1832=)
c.282C>T (p.Asp94=)
c.6132C>T (p.Asp2044=)
c.5943C>T (p.Asp1981=)
c.4347C>T (p.Asp1449=)
n.6483C>T
6g.51912491G>CCA364439802PKHD1c.6207C>G (p.Asp2069Glu)
c.5565C>G (p.Asp1855Glu)
c.5496C>G (p.Asp1832Glu)
c.282C>G (p.Asp94Glu)
c.6132C>G (p.Asp2044Glu)
c.5943C>G (p.Asp1981Glu)
c.4347C>G (p.Asp1449Glu)
n.6483C>G
 dbSNP gnomAD v2 gnomAD v4
6g.51912491G=CA1628583434PKHD1c.6207C= (p.Asp2069=)
c.5565C= (p.Asp1855=)
c.5496C= (p.Asp1832=)
c.282C= (p.Asp94=)
c.6132C= (p.Asp2044=)
c.5943C= (p.Asp1981=)
c.4347C= (p.Asp1449=)
n.6483C=
6g.51912491G>TCA364439804PKHD1c.6207C>A (p.Asp2069Glu)
c.5565C>A (p.Asp1855Glu)
c.5496C>A (p.Asp1832Glu)
c.282C>A (p.Asp94Glu)
c.6132C>A (p.Asp2044Glu)
c.5943C>A (p.Asp1981Glu)
c.4347C>A (p.Asp1449Glu)
n.6483C>A
6g.51912492T>ACA364439807PKHD1c.6206A>T (p.Asp2069Val)
c.5564A>T (p.Asp1855Val)
c.5495A>T (p.Asp1832Val)
c.281A>T (p.Asp94Val)
c.6131A>T (p.Asp2044Val)
c.5942A>T (p.Asp1981Val)
c.4346A>T (p.Asp1449Val)
n.6482A>T
6g.51912492T>CCA364439809PKHD1c.6206A>G (p.Asp2069Gly)
c.5564A>G (p.Asp1855Gly)
c.5495A>G (p.Asp1832Gly)
c.281A>G (p.Asp94Gly)
c.6131A>G (p.Asp2044Gly)
c.5942A>G (p.Asp1981Gly)
c.4346A>G (p.Asp1449Gly)
n.6482A>G
6g.51912492T>GCA364439812PKHD1c.6206A>C (p.Asp2069Ala)
c.5564A>C (p.Asp1855Ala)
c.5495A>C (p.Asp1832Ala)
c.281A>C (p.Asp94Ala)
c.6131A>C (p.Asp2044Ala)
c.5942A>C (p.Asp1981Ala)
c.4346A>C (p.Asp1449Ala)
n.6482A>C
6g.51912493C>ACA364439815PKHD1c.6205G>T (p.Asp2069Tyr)
c.5563G>T (p.Asp1855Tyr)
c.5494G>T (p.Asp1832Tyr)
c.280G>T (p.Asp94Tyr)
c.6130G>T (p.Asp2044Tyr)
c.5941G>T (p.Asp1981Tyr)
c.4345G>T (p.Asp1449Tyr)
n.6481G>T
6g.51912493C>GCA364439817PKHD1c.6205G>C (p.Asp2069His)
c.5563G>C (p.Asp1855His)
c.5494G>C (p.Asp1832His)
c.280G>C (p.Asp94His)
c.6130G>C (p.Asp2044His)
c.5941G>C (p.Asp1981His)
c.4345G>C (p.Asp1449His)
n.6481G>C
6g.51912493C>TCA364439819PKHD1c.6205G>A (p.Asp2069Asn)
c.5563G>A (p.Asp1855Asn)
c.5494G>A (p.Asp1832Asn)
c.280G>A (p.Asp94Asn)
c.6130G>A (p.Asp2044Asn)
c.5941G>A (p.Asp1981Asn)
c.4345G>A (p.Asp1449Asn)
n.6481G>A
6g.51912493_51912494delinsAACA645561176PKHD1c.6204_6205delinsTT (p.Asp2069Tyr)
c.5562_5563delinsTT (p.Asp1855Tyr)
c.5493_5494delinsTT (p.Asp1832Tyr)
c.279_280delinsTT (p.Asp94Tyr)
c.6129_6130delinsTT (p.Asp2044Tyr)
c.5940_5941delinsTT (p.Asp1981Tyr)
c.4344_4345delinsTT (p.Asp1449Tyr)
n.6480_6481delinsTT
 COSMIC COSMIC
6g.51912494C>ACA450415992PKHD1c.6204G>T (p.Val2068=)
c.5562G>T (p.Val1854=)
c.5493G>T (p.Val1831=)
c.279G>T (p.Val93=)
c.6129G>T (p.Val2043=)
c.5940G>T (p.Val1980=)
c.4344G>T (p.Val1448=)
n.6480G>T
6g.51912494C>GCA450415994PKHD1c.6204G>C (p.Val2068=)
c.5562G>C (p.Val1854=)
c.5493G>C (p.Val1831=)
c.279G>C (p.Val93=)
c.6129G>C (p.Val2043=)
c.5940G>C (p.Val1980=)
c.4344G>C (p.Val1448=)
n.6480G>C
6g.51912494C>TCA450415993PKHD1c.6204G>A (p.Val2068=)
c.5562G>A (p.Val1854=)
c.5493G>A (p.Val1831=)
c.279G>A (p.Val93=)
c.6129G>A (p.Val2043=)
c.5940G>A (p.Val1980=)
c.4344G>A (p.Val1448=)
n.6480G>A
6g.51912495A>CCA364439823PKHD1c.6203T>G (p.Val2068Gly)
c.5561T>G (p.Val1854Gly)
c.5492T>G (p.Val1831Gly)
c.278T>G (p.Val93Gly)
c.6128T>G (p.Val2043Gly)
c.5939T>G (p.Val1980Gly)
c.4343T>G (p.Val1448Gly)
n.6479T>G
6g.51912495A>GCA364439822PKHD1c.6203T>C (p.Val2068Ala)
c.5561T>C (p.Val1854Ala)
c.5492T>C (p.Val1831Ala)
c.278T>C (p.Val93Ala)
c.6128T>C (p.Val2043Ala)
c.5939T>C (p.Val1980Ala)
c.4343T>C (p.Val1448Ala)
n.6479T>C
6g.51912495A>TCA364439821PKHD1c.6203T>A (p.Val2068Glu)
c.5561T>A (p.Val1854Glu)
c.5492T>A (p.Val1831Glu)
c.278T>A (p.Val93Glu)
c.6128T>A (p.Val2043Glu)
c.5939T>A (p.Val1980Glu)
c.4343T>A (p.Val1448Glu)
n.6479T>A
6g.51912496C>ACA364439824PKHD1c.6202G>T (p.Val2068Leu)
c.5560G>T (p.Val1854Leu)
c.5491G>T (p.Val1831Leu)
c.277G>T (p.Val93Leu)
c.6127G>T (p.Val2043Leu)
c.5938G>T (p.Val1980Leu)
c.4342G>T (p.Val1448Leu)
n.6478G>T
6g.51912496C>GCA364439825PKHD1c.6202G>C (p.Val2068Leu)
c.5560G>C (p.Val1854Leu)
c.5491G>C (p.Val1831Leu)
c.277G>C (p.Val93Leu)
c.6127G>C (p.Val2043Leu)
c.5938G>C (p.Val1980Leu)
c.4342G>C (p.Val1448Leu)
n.6478G>C
6g.51912496C>TCA364439826PKHD1c.6202G>A (p.Val2068Met)
c.5560G>A (p.Val1854Met)
c.5491G>A (p.Val1831Met)
c.277G>A (p.Val93Met)
c.6127G>A (p.Val2043Met)
c.5938G>A (p.Val1980Met)
c.4342G>A (p.Val1448Met)
n.6478G>A
6g.51912497A>CCA450415995PKHD1c.6201T>G (p.Ala2067=)
c.5559T>G (p.Ala1853=)
c.5490T>G (p.Ala1830=)
c.276T>G (p.Ala92=)
c.6126T>G (p.Ala2042=)
c.5937T>G (p.Ala1979=)
c.4341T>G (p.Ala1447=)
n.6477T>G
6g.51912497A>GCA450415996PKHD1c.6201T>C (p.Ala2067=)
c.5559T>C (p.Ala1853=)
c.5490T>C (p.Ala1830=)
c.276T>C (p.Ala92=)
c.6126T>C (p.Ala2042=)
c.5937T>C (p.Ala1979=)
c.4341T>C (p.Ala1447=)
n.6477T>C
6g.51912497A>TCA450415997PKHD1c.6201T>A (p.Ala2067=)
c.5559T>A (p.Ala1853=)
c.5490T>A (p.Ala1830=)
c.276T>A (p.Ala92=)
c.6126T>A (p.Ala2042=)
c.5937T>A (p.Ala1979=)
c.4341T>A (p.Ala1447=)
n.6477T>A
 ClinVar
6g.51912498G>ACA364439827PKHD1c.6200C>T (p.Ala2067Val)
c.5558C>T (p.Ala1853Val)
c.5489C>T (p.Ala1830Val)
c.275C>T (p.Ala92Val)
c.6125C>T (p.Ala2042Val)
c.5936C>T (p.Ala1979Val)
c.4340C>T (p.Ala1447Val)
n.6476C>T
6g.51912498G>CCA364439828PKHD1c.6200C>G (p.Ala2067Gly)
c.5558C>G (p.Ala1853Gly)
c.5489C>G (p.Ala1830Gly)
c.275C>G (p.Ala92Gly)
c.6125C>G (p.Ala2042Gly)
c.5936C>G (p.Ala1979Gly)
c.4340C>G (p.Ala1447Gly)
n.6476C>G
 gnomAD v4
6g.51912498G>TCA364439829PKHD1c.6200C>A (p.Ala2067Asp)
c.5558C>A (p.Ala1853Asp)
c.5489C>A (p.Ala1830Asp)
c.275C>A (p.Ala92Asp)
c.6125C>A (p.Ala2042Asp)
c.5936C>A (p.Ala1979Asp)
c.4340C>A (p.Ala1447Asp)
n.6476C>A
6g.51912499C>ACA364439832PKHD1c.6199G>T (p.Ala2067Ser)
c.5557G>T (p.Ala1853Ser)
c.5488G>T (p.Ala1830Ser)
c.274G>T (p.Ala92Ser)
c.6124G>T (p.Ala2042Ser)
c.5935G>T (p.Ala1979Ser)
c.4339G>T (p.Ala1447Ser)
n.6475G>T
6g.51912499C>GCA364439830PKHD1c.6199G>C (p.Ala2067Pro)
c.5557G>C (p.Ala1853Pro)
c.5488G>C (p.Ala1830Pro)
c.274G>C (p.Ala92Pro)
c.6124G>C (p.Ala2042Pro)
c.5935G>C (p.Ala1979Pro)
c.4339G>C (p.Ala1447Pro)
n.6475G>C
6g.51912499C>TCA364439831PKHD1c.6199G>A (p.Ala2067Thr)
c.5557G>A (p.Ala1853Thr)
c.5488G>A (p.Ala1830Thr)
c.274G>A (p.Ala92Thr)
c.6124G>A (p.Ala2042Thr)
c.5935G>A (p.Ala1979Thr)
c.4339G>A (p.Ala1447Thr)
n.6475G>A
6g.51912500A>CCA364439833PKHD1c.6198T>G (p.Asp2066Glu)
c.5556T>G (p.Asp1852Glu)
c.5487T>G (p.Asp1829Glu)
c.273T>G (p.Asp91Glu)
c.6123T>G (p.Asp2041Glu)
c.5934T>G (p.Asp1978Glu)
c.4338T>G (p.Asp1446Glu)
n.6474T>G
 gnomAD v4
6g.51912500A>GCA450415998PKHD1c.6198T>C (p.Asp2066=)
c.5556T>C (p.Asp1852=)
c.5487T>C (p.Asp1829=)
c.273T>C (p.Asp91=)
c.6123T>C (p.Asp2041=)
c.5934T>C (p.Asp1978=)
c.4338T>C (p.Asp1446=)
n.6474T>C
6g.51912500A>TCA364439834PKHD1c.6198T>A (p.Asp2066Glu)
c.5556T>A (p.Asp1852Glu)
c.5487T>A (p.Asp1829Glu)
c.273T>A (p.Asp91Glu)
c.6123T>A (p.Asp2041Glu)
c.5934T>A (p.Asp1978Glu)
c.4338T>A (p.Asp1446Glu)
n.6474T>A
6g.51912501T>ACA364439835PKHD1c.6197A>T (p.Asp2066Val)
c.5555A>T (p.Asp1852Val)
c.5486A>T (p.Asp1829Val)
c.272A>T (p.Asp91Val)
c.6122A>T (p.Asp2041Val)
c.5933A>T (p.Asp1978Val)
c.4337A>T (p.Asp1446Val)
n.6473A>T
 gnomAD v4
6g.51912501T>CCA364439836PKHD1c.6197A>G (p.Asp2066Gly)
c.5555A>G (p.Asp1852Gly)
c.5486A>G (p.Asp1829Gly)
c.272A>G (p.Asp91Gly)
c.6122A>G (p.Asp2041Gly)
c.5933A>G (p.Asp1978Gly)
c.4337A>G (p.Asp1446Gly)
n.6473A>G
6g.51912501T>GCA364439837PKHD1c.6197A>C (p.Asp2066Ala)
c.5555A>C (p.Asp1852Ala)
c.5486A>C (p.Asp1829Ala)
c.272A>C (p.Asp91Ala)
c.6122A>C (p.Asp2041Ala)
c.5933A>C (p.Asp1978Ala)
c.4337A>C (p.Asp1446Ala)
n.6473A>C
6g.51912502C>ACA364439838PKHD1c.6196G>T (p.Asp2066Tyr)
c.5554G>T (p.Asp1852Tyr)
c.5485G>T (p.Asp1829Tyr)
c.271G>T (p.Asp91Tyr)
c.6121G>T (p.Asp2041Tyr)
c.5932G>T (p.Asp1978Tyr)
c.4336G>T (p.Asp1446Tyr)
n.6472G>T
6g.51912502C>GCA364439840PKHD1c.6196G>C (p.Asp2066His)
c.5554G>C (p.Asp1852His)
c.5485G>C (p.Asp1829His)
c.271G>C (p.Asp91His)
c.6121G>C (p.Asp2041His)
c.5932G>C (p.Asp1978His)
c.4336G>C (p.Asp1446His)
n.6472G>C
6g.51912502C>TCA364439839PKHD1c.6196G>A (p.Asp2066Asn)
c.5554G>A (p.Asp1852Asn)
c.5485G>A (p.Asp1829Asn)
c.271G>A (p.Asp91Asn)
c.6121G>A (p.Asp2041Asn)
c.5932G>A (p.Asp1978Asn)
c.4336G>A (p.Asp1446Asn)
n.6472G>A
6g.51912503T>ACA364439841PKHD1c.6195A>T (p.Glu2065Asp)
c.5553A>T (p.Glu1851Asp)
c.5484A>T (p.Glu1828Asp)
c.270A>T (p.Glu90Asp)
c.6120A>T (p.Glu2040Asp)
c.5931A>T (p.Glu1977Asp)
c.4335A>T (p.Glu1445Asp)
n.6471A>T
6g.51912503T>CCA450415999PKHD1c.6195A>G (p.Glu2065=)
c.5553A>G (p.Glu1851=)
c.5484A>G (p.Glu1828=)
c.270A>G (p.Glu90=)
c.6120A>G (p.Glu2040=)
c.5931A>G (p.Glu1977=)
c.4335A>G (p.Glu1445=)
n.6471A>G
6g.51912503T>GCA364439842PKHD1c.6195A>C (p.Glu2065Asp)
c.5553A>C (p.Glu1851Asp)
c.5484A>C (p.Glu1828Asp)
c.270A>C (p.Glu90Asp)
c.6120A>C (p.Glu2040Asp)
c.5931A>C (p.Glu1977Asp)
c.4335A>C (p.Glu1445Asp)
n.6471A>C
6g.51912504T>ACA364439843PKHD1c.6194A>T (p.Glu2065Val)
c.5552A>T (p.Glu1851Val)
c.5483A>T (p.Glu1828Val)
c.269A>T (p.Glu90Val)
c.6119A>T (p.Glu2040Val)
c.5930A>T (p.Glu1977Val)
c.4334A>T (p.Glu1445Val)
n.6470A>T
6g.51912504T>CCA364439844PKHD1c.6194A>G (p.Glu2065Gly)
c.5552A>G (p.Glu1851Gly)
c.5483A>G (p.Glu1828Gly)
c.269A>G (p.Glu90Gly)
c.6119A>G (p.Glu2040Gly)
c.5930A>G (p.Glu1977Gly)
c.4334A>G (p.Glu1445Gly)
n.6470A>G
6g.51912504T>GCA364439845PKHD1c.6194A>C (p.Glu2065Ala)
c.5552A>C (p.Glu1851Ala)
c.5483A>C (p.Glu1828Ala)
c.269A>C (p.Glu90Ala)
c.6119A>C (p.Glu2040Ala)
c.5930A>C (p.Glu1977Ala)
c.4334A>C (p.Glu1445Ala)
n.6470A>C
6g.51912505C>ACA364439846PKHD1c.6193G>T (p.Glu2065Ter)
c.5551G>T (p.Glu1851Ter)
c.5482G>T (p.Glu1828Ter)
c.268G>T (p.Glu90Ter)
c.6118G>T (p.Glu2040Ter)
c.5929G>T (p.Glu1977Ter)
c.4333G>T (p.Glu1445Ter)
n.6469G>T
6g.51912505C>GCA364439847PKHD1c.6193G>C (p.Glu2065Gln)
c.5551G>C (p.Glu1851Gln)
c.5482G>C (p.Glu1828Gln)
c.268G>C (p.Glu90Gln)
c.6118G>C (p.Glu2040Gln)
c.5929G>C (p.Glu1977Gln)
c.4333G>C (p.Glu1445Gln)
n.6469G>C
 dbSNP
6g.51912505C>TCA364439848PKHD1c.6193G>A (p.Glu2065Lys)
c.5551G>A (p.Glu1851Lys)
c.5482G>A (p.Glu1828Lys)
c.268G>A (p.Glu90Lys)
c.6118G>A (p.Glu2040Lys)
c.5929G>A (p.Glu1977Lys)
c.4333G>A (p.Glu1445Lys)
n.6469G>A
6g.51912506T>ACA364439849PKHD1c.6192A>T (p.Leu2064Phe)
c.5550A>T (p.Leu1850Phe)
c.5481A>T (p.Leu1827Phe)
c.267A>T (p.Leu89Phe)
c.6117A>T (p.Leu2039Phe)
c.5928A>T (p.Leu1976Phe)
c.4332A>T (p.Leu1444Phe)
n.6468A>T
6g.51912506T>CCA450416000PKHD1c.6192A>G (p.Leu2064=)
c.5550A>G (p.Leu1850=)
c.5481A>G (p.Leu1827=)
c.267A>G (p.Leu89=)
c.6117A>G (p.Leu2039=)
c.5928A>G (p.Leu1976=)
c.4332A>G (p.Leu1444=)
n.6468A>G
6g.51912506T>GCA364439850PKHD1c.6192A>C (p.Leu2064Phe)
c.5550A>C (p.Leu1850Phe)
c.5481A>C (p.Leu1827Phe)
c.267A>C (p.Leu89Phe)
c.6117A>C (p.Leu2039Phe)
c.5928A>C (p.Leu1976Phe)
c.4332A>C (p.Leu1444Phe)
n.6468A>C
6g.51912507A>CCA364439853PKHD1c.6191T>G (p.Leu2064Ter)
c.5549T>G (p.Leu1850Ter)
c.5480T>G (p.Leu1827Ter)
c.266T>G (p.Leu89Ter)
c.6116T>G (p.Leu2039Ter)
c.5927T>G (p.Leu1976Ter)
c.4331T>G (p.Leu1444Ter)
n.6467T>G
6g.51912507A>GCA364439852PKHD1c.6191T>C (p.Leu2064Ser)
c.5549T>C (p.Leu1850Ser)
c.5480T>C (p.Leu1827Ser)
c.266T>C (p.Leu89Ser)
c.6116T>C (p.Leu2039Ser)
c.5927T>C (p.Leu1976Ser)
c.4331T>C (p.Leu1444Ser)
n.6467T>C
6g.51912507A>TCA364439851PKHD1c.6191T>A (p.Leu2064Ter)
c.5549T>A (p.Leu1850Ter)
c.5480T>A (p.Leu1827Ter)
c.266T>A (p.Leu89Ter)
c.6116T>A (p.Leu2039Ter)
c.5927T>A (p.Leu1976Ter)
c.4331T>A (p.Leu1444Ter)
n.6467T>A
6g.51912508A>CCA364439854PKHD1c.6190T>G (p.Leu2064Val)
c.5548T>G (p.Leu1850Val)
c.5479T>G (p.Leu1827Val)
c.265T>G (p.Leu89Val)
c.6115T>G (p.Leu2039Val)
c.5926T>G (p.Leu1976Val)
c.4330T>G (p.Leu1444Val)
n.6466T>G
6g.51912508A>GCA450416001PKHD1c.6190T>C (p.Leu2064=)
c.5548T>C (p.Leu1850=)
c.5479T>C (p.Leu1827=)
c.265T>C (p.Leu89=)
c.6115T>C (p.Leu2039=)
c.5926T>C (p.Leu1976=)
c.4330T>C (p.Leu1444=)
n.6466T>C
6g.51912508A>TCA364439855PKHD1c.6190T>A (p.Leu2064Ile)
c.5548T>A (p.Leu1850Ile)
c.5479T>A (p.Leu1827Ile)
c.265T>A (p.Leu89Ile)
c.6115T>A (p.Leu2039Ile)
c.5926T>A (p.Leu1976Ile)
c.4330T>A (p.Leu1444Ile)
n.6466T>A
6g.51912509A=CA1628583438PKHD1c.6189T= (p.Ala2063=)
c.5547T= (p.Ala1849=)
c.5478T= (p.Ala1826=)
c.264T= (p.Ala88=)
c.6114T= (p.Ala2038=)
c.5925T= (p.Ala1975=)
c.4329T= (p.Ala1443=)
n.6465T=
6g.51912509A>CCA450416002PKHD1c.6189T>G (p.Ala2063=)
c.5547T>G (p.Ala1849=)
c.5478T>G (p.Ala1826=)
c.264T>G (p.Ala88=)
c.6114T>G (p.Ala2038=)
c.5925T>G (p.Ala1975=)
c.4329T>G (p.Ala1443=)
n.6465T>G
6g.51912509A>GCA450416003PKHD1c.6189T>C (p.Ala2063=)
c.5547T>C (p.Ala1849=)
c.5478T>C (p.Ala1826=)
c.264T>C (p.Ala88=)
c.6114T>C (p.Ala2038=)
c.5925T>C (p.Ala1975=)
c.4329T>C (p.Ala1443=)
n.6465T>C
6g.51912509A>TCA3852314PKHD1c.6189T>A (p.Ala2063=)
c.5547T>A (p.Ala1849=)
c.5478T>A (p.Ala1826=)
c.264T>A (p.Ala88=)
c.6114T>A (p.Ala2038=)
c.5925T>A (p.Ala1975=)
c.4329T>A (p.Ala1443=)
n.6465T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51912510G>ACA364439856PKHD1c.6188C>T (p.Ala2063Val)
c.5546C>T (p.Ala1849Val)
c.5477C>T (p.Ala1826Val)
c.263C>T (p.Ala88Val)
c.6113C>T (p.Ala2038Val)
c.5924C>T (p.Ala1975Val)
c.4328C>T (p.Ala1443Val)
n.6464C>T
 gnomAD v4
6g.51912510G>CCA3852315PKHD1c.6188C>G (p.Ala2063Gly)
c.5546C>G (p.Ala1849Gly)
c.5477C>G (p.Ala1826Gly)
c.263C>G (p.Ala88Gly)
c.6113C>G (p.Ala2038Gly)
c.5924C>G (p.Ala1975Gly)
c.4328C>G (p.Ala1443Gly)
n.6464C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51912510G=CA1628583444PKHD1c.6188C= (p.Ala2063=)
c.5546C= (p.Ala1849=)
c.5477C= (p.Ala1826=)
c.263C= (p.Ala88=)
c.6113C= (p.Ala2038=)
c.5924C= (p.Ala1975=)
c.4328C= (p.Ala1443=)
n.6464C=
6g.51912510G>TCA364439857PKHD1c.6188C>A (p.Ala2063Asp)
c.5546C>A (p.Ala1849Asp)
c.5477C>A (p.Ala1826Asp)
c.263C>A (p.Ala88Asp)
c.6113C>A (p.Ala2038Asp)
c.5924C>A (p.Ala1975Asp)
c.4328C>A (p.Ala1443Asp)
n.6464C>A
 COSMIC COSMIC
6g.51912511C>ACA364439858PKHD1c.6187G>T (p.Ala2063Ser)
c.5545G>T (p.Ala1849Ser)
c.5476G>T (p.Ala1826Ser)
c.262G>T (p.Ala88Ser)
c.6112G>T (p.Ala2038Ser)
c.5923G>T (p.Ala1975Ser)
c.4327G>T (p.Ala1443Ser)
n.6463G>T
6g.51912511C=CA1628583448PKHD1c.6187G= (p.Ala2063=)
c.5545G= (p.Ala1849=)
c.5476G= (p.Ala1826=)
c.262G= (p.Ala88=)
c.6112G= (p.Ala2038=)
c.5923G= (p.Ala1975=)
c.4327G= (p.Ala1443=)
n.6463G=
6g.51912511C>GCA364439859PKHD1c.6187G>C (p.Ala2063Pro)
c.5545G>C (p.Ala1849Pro)
c.5476G>C (p.Ala1826Pro)
c.262G>C (p.Ala88Pro)
c.6112G>C (p.Ala2038Pro)
c.5923G>C (p.Ala1975Pro)
c.4327G>C (p.Ala1443Pro)
n.6463G>C
6g.51912511C>TCA3852316PKHD1c.6187G>A (p.Ala2063Thr)
c.5545G>A (p.Ala1849Thr)
c.5476G>A (p.Ala1826Thr)
c.262G>A (p.Ala88Thr)
c.6112G>A (p.Ala2038Thr)
c.5923G>A (p.Ala1975Thr)
c.4327G>A (p.Ala1443Thr)
n.6463G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912512delCA2580075501PKHD1c.6187del (p.Ala2063LeufsTer2)
c.5545del (p.Ala1849LeufsTer2)
c.5476del (p.Ala1826LeufsTer2)
c.262del (p.Ala88LeufsTer2)
c.6112del (p.Ala2038LeufsTer2)
c.5923del (p.Ala1975LeufsTer2)
c.4327del (p.Ala1443LeufsTer2)
n.6463del
 ClinVar
6g.51912512C>ACA450416004PKHD1c.6186G>T (p.Leu2062=)
c.5544G>T (p.Leu1848=)
c.5475G>T (p.Leu1825=)
c.261G>T (p.Leu87=)
c.6111G>T (p.Leu2037=)
c.5922G>T (p.Leu1974=)
c.4326G>T (p.Leu1442=)
n.6462G>T
 ClinVar
6g.51912512C>GCA450416005PKHD1c.6186G>C (p.Leu2062=)
c.5544G>C (p.Leu1848=)
c.5475G>C (p.Leu1825=)
c.261G>C (p.Leu87=)
c.6111G>C (p.Leu2037=)
c.5922G>C (p.Leu1974=)
c.4326G>C (p.Leu1442=)
n.6462G>C
6g.51912512C>TCA450416006PKHD1c.6186G>A (p.Leu2062=)
c.5544G>A (p.Leu1848=)
c.5475G>A (p.Leu1825=)
c.261G>A (p.Leu87=)
c.6111G>A (p.Leu2037=)
c.5922G>A (p.Leu1974=)
c.4326G>A (p.Leu1442=)
n.6462G>A
6g.51912513A>CCA364439860PKHD1c.6185T>G (p.Leu2062Arg)
c.5543T>G (p.Leu1848Arg)
c.5474T>G (p.Leu1825Arg)
c.260T>G (p.Leu87Arg)
c.6110T>G (p.Leu2037Arg)
c.5921T>G (p.Leu1974Arg)
c.4325T>G (p.Leu1442Arg)
n.6461T>G
6g.51912513A>GCA364439861PKHD1c.6185T>C (p.Leu2062Pro)
c.5543T>C (p.Leu1848Pro)
c.5474T>C (p.Leu1825Pro)
c.260T>C (p.Leu87Pro)
c.6110T>C (p.Leu2037Pro)
c.5921T>C (p.Leu1974Pro)
c.4325T>C (p.Leu1442Pro)
n.6461T>C
6g.51912513A>TCA364439862PKHD1c.6185T>A (p.Leu2062Gln)
c.5543T>A (p.Leu1848Gln)
c.5474T>A (p.Leu1825Gln)
c.260T>A (p.Leu87Gln)
c.6110T>A (p.Leu2037Gln)
c.5921T>A (p.Leu1974Gln)
c.4325T>A (p.Leu1442Gln)
n.6461T>A
6g.51912514G>ACA3852317PKHD1c.6184C>T (p.Leu2062=)
c.5542C>T (p.Leu1848=)
c.5473C>T (p.Leu1825=)
c.259C>T (p.Leu87=)
c.6109C>T (p.Leu2037=)
c.5920C>T (p.Leu1974=)
c.4324C>T (p.Leu1442=)
n.6460C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912514G>CCA364439863PKHD1c.6184C>G (p.Leu2062Val)
c.5542C>G (p.Leu1848Val)
c.5473C>G (p.Leu1825Val)
c.259C>G (p.Leu87Val)
c.6109C>G (p.Leu2037Val)
c.5920C>G (p.Leu1974Val)
c.4324C>G (p.Leu1442Val)
n.6460C>G
6g.51912514G=CA1628583454PKHD1c.6184C= (p.Leu2062=)
c.5542C= (p.Leu1848=)
c.5473C= (p.Leu1825=)
c.259C= (p.Leu87=)
c.6109C= (p.Leu2037=)
c.5920C= (p.Leu1974=)
c.4324C= (p.Leu1442=)
n.6460C=
6g.51912514G>TCA364439864PKHD1c.6184C>A (p.Leu2062Met)
c.5542C>A (p.Leu1848Met)
c.5473C>A (p.Leu1825Met)
c.259C>A (p.Leu87Met)
c.6109C>A (p.Leu2037Met)
c.5920C>A (p.Leu1974Met)
c.4324C>A (p.Leu1442Met)
n.6460C>A
 COSMIC COSMIC
6g.51912515C>ACA450416009PKHD1c.6183G>T (p.Val2061=)
c.5541G>T (p.Val1847=)
c.5472G>T (p.Val1824=)
c.258G>T (p.Val86=)
c.6108G>T (p.Val2036=)
c.5919G>T (p.Val1973=)
c.4323G>T (p.Val1441=)
n.6459G>T
 dbSNP gnomAD v3 gnomAD v4
6g.51912515C=CA1628583460PKHD1c.6183G= (p.Val2061=)
c.5541G= (p.Val1847=)
c.5472G= (p.Val1824=)
c.258G= (p.Val86=)
c.6108G= (p.Val2036=)
c.5919G= (p.Val1973=)
c.4323G= (p.Val1441=)
n.6459G=
6g.51912515C>GCA450416008PKHD1c.6183G>C (p.Val2061=)
c.5541G>C (p.Val1847=)
c.5472G>C (p.Val1824=)
c.258G>C (p.Val86=)
c.6108G>C (p.Val2036=)
c.5919G>C (p.Val1973=)
c.4323G>C (p.Val1441=)
n.6459G>C
6g.51912515C>TCA450416007PKHD1c.6183G>A (p.Val2061=)
c.5541G>A (p.Val1847=)
c.5472G>A (p.Val1824=)
c.258G>A (p.Val86=)
c.6108G>A (p.Val2036=)
c.5919G>A (p.Val1973=)
c.4323G>A (p.Val1441=)
n.6459G>A
 ClinVar
6g.51912516A>CCA364439865PKHD1c.6182T>G (p.Val2061Gly)
c.5540T>G (p.Val1847Gly)
c.5471T>G (p.Val1824Gly)
c.257T>G (p.Val86Gly)
c.6107T>G (p.Val2036Gly)
c.5918T>G (p.Val1973Gly)
c.4322T>G (p.Val1441Gly)
n.6458T>G
6g.51912516A>GCA364439866PKHD1c.6182T>C (p.Val2061Ala)
c.5540T>C (p.Val1847Ala)
c.5471T>C (p.Val1824Ala)
c.257T>C (p.Val86Ala)
c.6107T>C (p.Val2036Ala)
c.5918T>C (p.Val1973Ala)
c.4322T>C (p.Val1441Ala)
n.6458T>C
6g.51912516A>TCA364439867PKHD1c.6182T>A (p.Val2061Glu)
c.5540T>A (p.Val1847Glu)
c.5471T>A (p.Val1824Glu)
c.257T>A (p.Val86Glu)
c.6107T>A (p.Val2036Glu)
c.5918T>A (p.Val1973Glu)
c.4322T>A (p.Val1441Glu)
n.6458T>A
6g.51912517C>ACA364439870PKHD1c.6181G>T (p.Val2061Leu)
c.5539G>T (p.Val1847Leu)
c.5470G>T (p.Val1824Leu)
c.256G>T (p.Val86Leu)
c.6106G>T (p.Val2036Leu)
c.5917G>T (p.Val1973Leu)
c.4321G>T (p.Val1441Leu)
n.6457G>T
6g.51912517C>GCA364439868PKHD1c.6181G>C (p.Val2061Leu)
c.5539G>C (p.Val1847Leu)
c.5470G>C (p.Val1824Leu)
c.256G>C (p.Val86Leu)
c.6106G>C (p.Val2036Leu)
c.5917G>C (p.Val1973Leu)
c.4321G>C (p.Val1441Leu)
n.6457G>C
6g.51912517C>TCA364439869PKHD1c.6181G>A (p.Val2061Met)
c.5539G>A (p.Val1847Met)
c.5470G>A (p.Val1824Met)
c.256G>A (p.Val86Met)
c.6106G>A (p.Val2036Met)
c.5917G>A (p.Val1973Met)
c.4321G>A (p.Val1441Met)
n.6457G>A
6g.51912518T>ACA450416010PKHD1c.6180A>T (p.Thr2060=)
c.5538A>T (p.Thr1846=)
c.5469A>T (p.Thr1823=)
c.255A>T (p.Thr85=)
c.6105A>T (p.Thr2035=)
c.5916A>T (p.Thr1972=)
c.4320A>T (p.Thr1440=)
n.6456A>T
6g.51912518T>CCA450416011PKHD1c.6180A>G (p.Thr2060=)
c.5538A>G (p.Thr1846=)
c.5469A>G (p.Thr1823=)
c.255A>G (p.Thr85=)
c.6105A>G (p.Thr2035=)
c.5916A>G (p.Thr1972=)
c.4320A>G (p.Thr1440=)
n.6456A>G
6g.51912518T>GCA450416012PKHD1c.6180A>C (p.Thr2060=)
c.5538A>C (p.Thr1846=)
c.5469A>C (p.Thr1823=)
c.255A>C (p.Thr85=)
c.6105A>C (p.Thr2035=)
c.5916A>C (p.Thr1972=)
c.4320A>C (p.Thr1440=)
n.6456A>C
6g.51912519G>ACA364439871PKHD1c.6179C>T (p.Thr2060Ile)
c.5537C>T (p.Thr1846Ile)
c.5468C>T (p.Thr1823Ile)
c.254C>T (p.Thr85Ile)
c.6104C>T (p.Thr2035Ile)
c.5915C>T (p.Thr1972Ile)
c.4319C>T (p.Thr1440Ile)
n.6455C>T
6g.51912519G>CCA364439872PKHD1c.6179C>G (p.Thr2060Arg)
c.5537C>G (p.Thr1846Arg)
c.5468C>G (p.Thr1823Arg)
c.254C>G (p.Thr85Arg)
c.6104C>G (p.Thr2035Arg)
c.5915C>G (p.Thr1972Arg)
c.4319C>G (p.Thr1440Arg)
n.6455C>G
 gnomAD v4
6g.51912519G>TCA364439873PKHD1c.6179C>A (p.Thr2060Lys)
c.5537C>A (p.Thr1846Lys)
c.5468C>A (p.Thr1823Lys)
c.254C>A (p.Thr85Lys)
c.6104C>A (p.Thr2035Lys)
c.5915C>A (p.Thr1972Lys)
c.4319C>A (p.Thr1440Lys)
n.6455C>A
6g.51912520T>ACA364439874PKHD1c.6178A>T (p.Thr2060Ser)
c.5536A>T (p.Thr1846Ser)
c.5467A>T (p.Thr1823Ser)
c.253A>T (p.Thr85Ser)
c.6103A>T (p.Thr2035Ser)
c.5914A>T (p.Thr1972Ser)
c.4318A>T (p.Thr1440Ser)
n.6454A>T
6g.51912520T>CCA364439875PKHD1c.6178A>G (p.Thr2060Ala)
c.5536A>G (p.Thr1846Ala)
c.5467A>G (p.Thr1823Ala)
c.253A>G (p.Thr85Ala)
c.6103A>G (p.Thr2035Ala)
c.5914A>G (p.Thr1972Ala)
c.4318A>G (p.Thr1440Ala)
n.6454A>G
 dbSNP gnomAD v3 gnomAD v4
6g.51912520T>GCA364439876PKHD1c.6178A>C (p.Thr2060Pro)
c.5536A>C (p.Thr1846Pro)
c.5467A>C (p.Thr1823Pro)
c.253A>C (p.Thr85Pro)
c.6103A>C (p.Thr2035Pro)
c.5914A>C (p.Thr1972Pro)
c.4318A>C (p.Thr1440Pro)
n.6454A>C
6g.51912520T=CA1628583465PKHD1c.6178A= (p.Thr2060=)
c.5536A= (p.Thr1846=)
c.5467A= (p.Thr1823=)
c.253A= (p.Thr85=)
c.6103A= (p.Thr2035=)
c.5914A= (p.Thr1972=)
c.4318A= (p.Thr1440=)
n.6454A=
6g.51912521G>ACA450416013PKHD1c.6177C>T (p.Asp2059=)
c.5535C>T (p.Asp1845=)
c.5466C>T (p.Asp1822=)
c.252C>T (p.Asp84=)
c.6102C>T (p.Asp2034=)
c.5913C>T (p.Asp1971=)
c.4317C>T (p.Asp1439=)
n.6453C>T
 ClinVar dbSNP
6g.51912521G>CCA364439877PKHD1c.6177C>G (p.Asp2059Glu)
c.5535C>G (p.Asp1845Glu)
c.5466C>G (p.Asp1822Glu)
c.252C>G (p.Asp84Glu)
c.6102C>G (p.Asp2034Glu)
c.5913C>G (p.Asp1971Glu)
c.4317C>G (p.Asp1439Glu)
n.6453C>G
6g.51912521G=CA1628583467PKHD1c.6177C= (p.Asp2059=)
c.5535C= (p.Asp1845=)
c.5466C= (p.Asp1822=)
c.252C= (p.Asp84=)
c.6102C= (p.Asp2034=)
c.5913C= (p.Asp1971=)
c.4317C= (p.Asp1439=)
n.6453C=
6g.51912521G>TCA364439878PKHD1c.6177C>A (p.Asp2059Glu)
c.5535C>A (p.Asp1845Glu)
c.5466C>A (p.Asp1822Glu)
c.252C>A (p.Asp84Glu)
c.6102C>A (p.Asp2034Glu)
c.5913C>A (p.Asp1971Glu)
c.4317C>A (p.Asp1439Glu)
n.6453C>A
6g.51912522T>ACA364439879PKHD1c.6176A>T (p.Asp2059Val)
c.5534A>T (p.Asp1845Val)
c.5465A>T (p.Asp1822Val)
c.251A>T (p.Asp84Val)
c.6101A>T (p.Asp2034Val)
c.5912A>T (p.Asp1971Val)
c.4316A>T (p.Asp1439Val)
n.6452A>T
6g.51912522T>CCA364439880PKHD1c.6176A>G (p.Asp2059Gly)
c.5534A>G (p.Asp1845Gly)
c.5465A>G (p.Asp1822Gly)
c.251A>G (p.Asp84Gly)
c.6101A>G (p.Asp2034Gly)
c.5912A>G (p.Asp1971Gly)
c.4316A>G (p.Asp1439Gly)
n.6452A>G
 gnomAD v4
6g.51912522T>GCA364439881PKHD1c.6176A>C (p.Asp2059Ala)
c.5534A>C (p.Asp1845Ala)
c.5465A>C (p.Asp1822Ala)
c.251A>C (p.Asp84Ala)
c.6101A>C (p.Asp2034Ala)
c.5912A>C (p.Asp1971Ala)
c.4316A>C (p.Asp1439Ala)
n.6452A>C
6g.51912523C>ACA364439883PKHD1c.6175G>T (p.Asp2059Tyr)
c.5533G>T (p.Asp1845Tyr)
c.5464G>T (p.Asp1822Tyr)
c.250G>T (p.Asp84Tyr)
c.6100G>T (p.Asp2034Tyr)
c.5911G>T (p.Asp1971Tyr)
c.4315G>T (p.Asp1439Tyr)
n.6451G>T
6g.51912523C=CA1628583470PKHD1c.6175G= (p.Asp2059=)
c.5533G= (p.Asp1845=)
c.5464G= (p.Asp1822=)
c.250G= (p.Asp84=)
c.6100G= (p.Asp2034=)
c.5911G= (p.Asp1971=)
c.4315G= (p.Asp1439=)
n.6451G=
6g.51912523C>GCA364439882PKHD1c.6175G>C (p.Asp2059His)
c.5533G>C (p.Asp1845His)
c.5464G>C (p.Asp1822His)
c.250G>C (p.Asp84His)
c.6100G>C (p.Asp2034His)
c.5911G>C (p.Asp1971His)
c.4315G>C (p.Asp1439His)
n.6451G>C
6g.51912523C>TCA3852318PKHD1c.6175G>A (p.Asp2059Asn)
c.5533G>A (p.Asp1845Asn)
c.5464G>A (p.Asp1822Asn)
c.250G>A (p.Asp84Asn)
c.6100G>A (p.Asp2034Asn)
c.5911G>A (p.Asp1971Asn)
c.4315G>A (p.Asp1439Asn)
n.6451G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51912523_51912525dupCA2679081922PKHD1c.6173_6175dup (p.Leu2058_Asp2059insVal)
c.5531_5533dup (p.Leu1844_Asp1845insVal)
c.5462_5464dup (p.Leu1821_Asp1822insVal)
c.248_250dup (p.Leu83_Asp84insVal)
c.6098_6100dup (p.Leu2033_Asp2034insVal)
c.5909_5911dup (p.Leu1970_Asp1971insVal)
c.4313_4315dup (p.Leu1438_Asp1439insVal)
n.6449_6451dup
 gnomAD v4
6g.51912524T>ACA450416014PKHD1c.6174A>T (p.Leu2058=)
c.5532A>T (p.Leu1844=)
c.5463A>T (p.Leu1821=)
c.249A>T (p.Leu83=)
c.6099A>T (p.Leu2033=)
c.5910A>T (p.Leu1970=)
c.4314A>T (p.Leu1438=)
n.6450A>T
6g.51912524T>CCA450416015PKHD1c.6174A>G (p.Leu2058=)
c.5532A>G (p.Leu1844=)
c.5463A>G (p.Leu1821=)
c.249A>G (p.Leu83=)
c.6099A>G (p.Leu2033=)
c.5910A>G (p.Leu1970=)
c.4314A>G (p.Leu1438=)
n.6450A>G
6g.51912524T>GCA450416016PKHD1c.6174A>C (p.Leu2058=)
c.5532A>C (p.Leu1844=)
c.5463A>C (p.Leu1821=)
c.249A>C (p.Leu83=)
c.6099A>C (p.Leu2033=)
c.5910A>C (p.Leu1970=)
c.4314A>C (p.Leu1438=)
n.6450A>C
6g.51912525A=CA1628583472PKHD1c.6173T= (p.Leu2058=)
c.5531T= (p.Leu1844=)
c.5462T= (p.Leu1821=)
c.248T= (p.Leu83=)
c.6098T= (p.Leu2033=)
c.5909T= (p.Leu1970=)
c.4313T= (p.Leu1438=)
n.6449T=
6g.51912525A>CCA364439884PKHD1c.6173T>G (p.Leu2058Arg)
c.5531T>G (p.Leu1844Arg)
c.5462T>G (p.Leu1821Arg)
c.248T>G (p.Leu83Arg)
c.6098T>G (p.Leu2033Arg)
c.5909T>G (p.Leu1970Arg)
c.4313T>G (p.Leu1438Arg)
n.6449T>G
 dbSNP gnomAD v2 gnomAD v4
6g.51912525A>GCA364439885PKHD1c.6173T>C (p.Leu2058Pro)
c.5531T>C (p.Leu1844Pro)
c.5462T>C (p.Leu1821Pro)
c.248T>C (p.Leu83Pro)
c.6098T>C (p.Leu2033Pro)
c.5909T>C (p.Leu1970Pro)
c.4313T>C (p.Leu1438Pro)
n.6449T>C
6g.51912525A>TCA364439886PKHD1c.6173T>A (p.Leu2058Gln)
c.5531T>A (p.Leu1844Gln)
c.5462T>A (p.Leu1821Gln)
c.248T>A (p.Leu83Gln)
c.6098T>A (p.Leu2033Gln)
c.5909T>A (p.Leu1970Gln)
c.4313T>A (p.Leu1438Gln)
n.6449T>A
6g.51912526G>ACA450416017PKHD1c.6172C>T (p.Leu2058=)
c.5530C>T (p.Leu1844=)
c.5461C>T (p.Leu1821=)
c.247C>T (p.Leu83=)
c.6097C>T (p.Leu2033=)
c.5908C>T (p.Leu1970=)
c.4312C>T (p.Leu1438=)
n.6448C>T
6g.51912526G>CCA364439887PKHD1c.6172C>G (p.Leu2058Val)
c.5530C>G (p.Leu1844Val)
c.5461C>G (p.Leu1821Val)
c.247C>G (p.Leu83Val)
c.6097C>G (p.Leu2033Val)
c.5908C>G (p.Leu1970Val)
c.4312C>G (p.Leu1438Val)
n.6448C>G
6g.51912526G>TCA364439888PKHD1c.6172C>A (p.Leu2058Ile)
c.5530C>A (p.Leu1844Ile)
c.5461C>A (p.Leu1821Ile)
c.247C>A (p.Leu83Ile)
c.6097C>A (p.Leu2033Ile)
c.5908C>A (p.Leu1970Ile)
c.4312C>A (p.Leu1438Ile)
n.6448C>A
6g.51912527G>ACA450416018PKHD1c.6171C>T (p.Ala2057=)
c.5529C>T (p.Ala1843=)
c.5460C>T (p.Ala1820=)
c.246C>T (p.Ala82=)
c.6096C>T (p.Ala2032=)
c.5907C>T (p.Ala1969=)
c.4311C>T (p.Ala1437=)
n.6447C>T
 gnomAD v4
6g.51912527G>CCA450416020PKHD1c.6171C>G (p.Ala2057=)
c.5529C>G (p.Ala1843=)
c.5460C>G (p.Ala1820=)
c.246C>G (p.Ala82=)
c.6096C>G (p.Ala2032=)
c.5907C>G (p.Ala1969=)
c.4311C>G (p.Ala1437=)
n.6447C>G
 gnomAD v4
6g.51912527G>TCA450416019PKHD1c.6171C>A (p.Ala2057=)
c.5529C>A (p.Ala1843=)
c.5460C>A (p.Ala1820=)
c.246C>A (p.Ala82=)
c.6096C>A (p.Ala2032=)
c.5907C>A (p.Ala1969=)
c.4311C>A (p.Ala1437=)
n.6447C>A
6g.51912528G>ACA364439889PKHD1c.6170C>T (p.Ala2057Val)
c.5528C>T (p.Ala1843Val)
c.5459C>T (p.Ala1820Val)
c.245C>T (p.Ala82Val)
c.6095C>T (p.Ala2032Val)
c.5906C>T (p.Ala1969Val)
c.4310C>T (p.Ala1437Val)
n.6446C>T
6g.51912528G>CCA364439890PKHD1c.6170C>G (p.Ala2057Gly)
c.5528C>G (p.Ala1843Gly)
c.5459C>G (p.Ala1820Gly)
c.245C>G (p.Ala82Gly)
c.6095C>G (p.Ala2032Gly)
c.5906C>G (p.Ala1969Gly)
c.4310C>G (p.Ala1437Gly)
n.6446C>G
 gnomAD v4
6g.51912528G=CA1628583475PKHD1c.6170C= (p.Ala2057=)
c.5528C= (p.Ala1843=)
c.5459C= (p.Ala1820=)
c.245C= (p.Ala82=)
c.6095C= (p.Ala2032=)
c.5906C= (p.Ala1969=)
c.4310C= (p.Ala1437=)
n.6446C=
6g.51912528G>TCA138910857PKHD1c.6170C>A (p.Ala2057Asp)
c.5528C>A (p.Ala1843Asp)
c.5459C>A (p.Ala1820Asp)
c.245C>A (p.Ala82Asp)
c.6095C>A (p.Ala2032Asp)
c.5906C>A (p.Ala1969Asp)
c.4310C>A (p.Ala1437Asp)
n.6446C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51912529C>ACA364439891PKHD1c.6169G>T (p.Ala2057Ser)
c.5527G>T (p.Ala1843Ser)
c.5458G>T (p.Ala1820Ser)
c.244G>T (p.Ala82Ser)
c.6094G>T (p.Ala2032Ser)
c.5905G>T (p.Ala1969Ser)
c.4309G>T (p.Ala1437Ser)
n.6445G>T
 COSMIC COSMIC
6g.51912529C=CA1628583478PKHD1c.6169G= (p.Ala2057=)
c.5527G= (p.Ala1843=)
c.5458G= (p.Ala1820=)
c.244G= (p.Ala82=)
c.6094G= (p.Ala2032=)
c.5905G= (p.Ala1969=)
c.4309G= (p.Ala1437=)
n.6445G=
6g.51912529C>GCA364439892PKHD1c.6169G>C (p.Ala2057Pro)
c.5527G>C (p.Ala1843Pro)
c.5458G>C (p.Ala1820Pro)
c.244G>C (p.Ala82Pro)
c.6094G>C (p.Ala2032Pro)
c.5905G>C (p.Ala1969Pro)
c.4309G>C (p.Ala1437Pro)
n.6445G>C
6g.51912529C>TCA138910859PKHD1c.6169G>A (p.Ala2057Thr)
c.5527G>A (p.Ala1843Thr)
c.5458G>A (p.Ala1820Thr)
c.244G>A (p.Ala82Thr)
c.6094G>A (p.Ala2032Thr)
c.5905G>A (p.Ala1969Thr)
c.4309G>A (p.Ala1437Thr)
n.6445G>A
 dbSNP gnomAD v2 gnomAD v4
6g.51912530A=CA1628583481PKHD1c.6168T= (p.His2056=)
c.5526T= (p.His1842=)
c.5457T= (p.His1819=)
c.243T= (p.His81=)
c.6093T= (p.His2031=)
c.5904T= (p.His1968=)
c.4308T= (p.His1436=)
n.6444T=
6g.51912530A>CCA364439893PKHD1c.6168T>G (p.His2056Gln)
c.5526T>G (p.His1842Gln)
c.5457T>G (p.His1819Gln)
c.243T>G (p.His81Gln)
c.6093T>G (p.His2031Gln)
c.5904T>G (p.His1968Gln)
c.4308T>G (p.His1436Gln)
n.6444T>G
 dbSNP
6g.51912530A>GCA450416021PKHD1c.6168T>C (p.His2056=)
c.5526T>C (p.His1842=)
c.5457T>C (p.His1819=)
c.243T>C (p.His81=)
c.6093T>C (p.His2031=)
c.5904T>C (p.His1968=)
c.4308T>C (p.His1436=)
n.6444T>C
6g.51912530A>TCA364439894PKHD1c.6168T>A (p.His2056Gln)
c.5526T>A (p.His1842Gln)
c.5457T>A (p.His1819Gln)
c.243T>A (p.His81Gln)
c.6093T>A (p.His2031Gln)
c.5904T>A (p.His1968Gln)
c.4308T>A (p.His1436Gln)
n.6444T>A
 dbSNP
6g.51912531T>ACA364439897PKHD1c.6167A>T (p.His2056Leu)
c.5525A>T (p.His1842Leu)
c.5456A>T (p.His1819Leu)
c.242A>T (p.His81Leu)
c.6092A>T (p.His2031Leu)
c.5903A>T (p.His1968Leu)
c.4307A>T (p.His1436Leu)
n.6443A>T
6g.51912531T>CCA364439895PKHD1c.6167A>G (p.His2056Arg)
c.5525A>G (p.His1842Arg)
c.5456A>G (p.His1819Arg)
c.242A>G (p.His81Arg)
c.6092A>G (p.His2031Arg)
c.5903A>G (p.His1968Arg)
c.4307A>G (p.His1436Arg)
n.6443A>G
6g.51912531T>GCA364439896PKHD1c.6167A>C (p.His2056Pro)
c.5525A>C (p.His1842Pro)
c.5456A>C (p.His1819Pro)
c.242A>C (p.His81Pro)
c.6092A>C (p.His2031Pro)
c.5903A>C (p.His1968Pro)
c.4307A>C (p.His1436Pro)
n.6443A>C

Number of alleles fetched