Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.52024950A>CCA450613980PKHD1c.4860T>G (p.Ala1620=)
c.4218T>G (p.Ala1406=)
c.4149T>G (p.Ala1383=)
c.4785T>G (p.Ala1595=)
c.4596T>G (p.Ala1532=)
c.3000T>G (p.Ala1000=)
n.5136T>G
6g.52024950A>GCA450613981PKHD1c.4860T>C (p.Ala1620=)
c.4218T>C (p.Ala1406=)
c.4149T>C (p.Ala1383=)
c.4785T>C (p.Ala1595=)
c.4596T>C (p.Ala1532=)
c.3000T>C (p.Ala1000=)
n.5136T>C
6g.52024950A>TCA450613982PKHD1c.4860T>A (p.Ala1620=)
c.4218T>A (p.Ala1406=)
c.4149T>A (p.Ala1383=)
c.4785T>A (p.Ala1595=)
c.4596T>A (p.Ala1532=)
c.3000T>A (p.Ala1000=)
n.5136T>A
6g.52024951G>ACA364430979PKHD1c.4859C>T (p.Ala1620Val)
c.4217C>T (p.Ala1406Val)
c.4148C>T (p.Ala1383Val)
c.4784C>T (p.Ala1595Val)
c.4595C>T (p.Ala1532Val)
c.2999C>T (p.Ala1000Val)
n.5135C>T
6g.52024951G>CCA364430983PKHD1c.4859C>G (p.Ala1620Gly)
c.4217C>G (p.Ala1406Gly)
c.4148C>G (p.Ala1383Gly)
c.4784C>G (p.Ala1595Gly)
c.4595C>G (p.Ala1532Gly)
c.2999C>G (p.Ala1000Gly)
n.5135C>G
6g.52024951G>TCA364430982PKHD1c.4859C>A (p.Ala1620Asp)
c.4217C>A (p.Ala1406Asp)
c.4148C>A (p.Ala1383Asp)
c.4784C>A (p.Ala1595Asp)
c.4595C>A (p.Ala1532Asp)
c.2999C>A (p.Ala1000Asp)
n.5135C>A
 gnomAD v4 COSMIC COSMIC
6g.52024952C>ACA364430985PKHD1c.4858G>T (p.Ala1620Ser)
c.4216G>T (p.Ala1406Ser)
c.4147G>T (p.Ala1383Ser)
c.4783G>T (p.Ala1595Ser)
c.4594G>T (p.Ala1532Ser)
c.2998G>T (p.Ala1000Ser)
n.5134G>T
6g.52024952C>GCA364430986PKHD1c.4858G>C (p.Ala1620Pro)
c.4216G>C (p.Ala1406Pro)
c.4147G>C (p.Ala1383Pro)
c.4783G>C (p.Ala1595Pro)
c.4594G>C (p.Ala1532Pro)
c.2998G>C (p.Ala1000Pro)
n.5134G>C
6g.52024952C>TCA364430987PKHD1c.4858G>A (p.Ala1620Thr)
c.4216G>A (p.Ala1406Thr)
c.4147G>A (p.Ala1383Thr)
c.4783G>A (p.Ala1595Thr)
c.4594G>A (p.Ala1532Thr)
c.2998G>A (p.Ala1000Thr)
n.5134G>A
6g.52024953A>CCA450613985PKHD1c.4857T>G (p.Gly1619=)
c.4215T>G (p.Gly1405=)
c.4146T>G (p.Gly1382=)
c.4782T>G (p.Gly1594=)
c.4593T>G (p.Gly1531=)
c.2997T>G (p.Gly999=)
n.5133T>G
6g.52024953A>GCA450613987PKHD1c.4857T>C (p.Gly1619=)
c.4215T>C (p.Gly1405=)
c.4146T>C (p.Gly1382=)
c.4782T>C (p.Gly1594=)
c.4593T>C (p.Gly1531=)
c.2997T>C (p.Gly999=)
n.5133T>C
6g.52024953A>TCA450613989PKHD1c.4857T>A (p.Gly1619=)
c.4215T>A (p.Gly1405=)
c.4146T>A (p.Gly1382=)
c.4782T>A (p.Gly1594=)
c.4593T>A (p.Gly1531=)
c.2997T>A (p.Gly999=)
n.5133T>A
6g.52024954C>ACA364430990PKHD1c.4856G>T (p.Gly1619Val)
c.4214G>T (p.Gly1405Val)
c.4145G>T (p.Gly1382Val)
c.4781G>T (p.Gly1594Val)
c.4592G>T (p.Gly1531Val)
c.2996G>T (p.Gly999Val)
n.5132G>T
6g.52024954C>GCA364430993PKHD1c.4856G>C (p.Gly1619Ala)
c.4214G>C (p.Gly1405Ala)
c.4145G>C (p.Gly1382Ala)
c.4781G>C (p.Gly1594Ala)
c.4592G>C (p.Gly1531Ala)
c.2996G>C (p.Gly999Ala)
n.5132G>C
6g.52024954C>TCA364430995PKHD1c.4856G>A (p.Gly1619Asp)
c.4214G>A (p.Gly1405Asp)
c.4145G>A (p.Gly1382Asp)
c.4781G>A (p.Gly1594Asp)
c.4592G>A (p.Gly1531Asp)
c.2996G>A (p.Gly999Asp)
n.5132G>A
6g.52024955C>ACA364430998PKHD1c.4855G>T (p.Gly1619Cys)
c.4213G>T (p.Gly1405Cys)
c.4144G>T (p.Gly1382Cys)
c.4780G>T (p.Gly1594Cys)
c.4591G>T (p.Gly1531Cys)
c.2995G>T (p.Gly999Cys)
n.5131G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52024955C=CA1628646918PKHD1c.4855G= (p.Gly1619=)
c.4213G= (p.Gly1405=)
c.4144G= (p.Gly1382=)
c.4780G= (p.Gly1594=)
c.4591G= (p.Gly1531=)
c.2995G= (p.Gly999=)
n.5131G=
6g.52024955C>GCA364431001PKHD1c.4855G>C (p.Gly1619Arg)
c.4213G>C (p.Gly1405Arg)
c.4144G>C (p.Gly1382Arg)
c.4780G>C (p.Gly1594Arg)
c.4591G>C (p.Gly1531Arg)
c.2995G>C (p.Gly999Arg)
n.5131G>C
6g.52024955C>TCA3852653PKHD1c.4855G>A (p.Gly1619Ser)
c.4213G>A (p.Gly1405Ser)
c.4144G>A (p.Gly1382Ser)
c.4780G>A (p.Gly1594Ser)
c.4591G>A (p.Gly1531Ser)
c.2995G>A (p.Gly999Ser)
n.5131G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024956G>ACA3852654PKHD1c.4854C>T (p.Ile1618=)
c.4212C>T (p.Ile1404=)
c.4143C>T (p.Ile1381=)
c.4779C>T (p.Ile1593=)
c.4590C>T (p.Ile1530=)
c.2994C>T (p.Ile998=)
n.5130C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024956G>CCA364431005PKHD1c.4854C>G (p.Ile1618Met)
c.4212C>G (p.Ile1404Met)
c.4143C>G (p.Ile1381Met)
c.4779C>G (p.Ile1593Met)
c.4590C>G (p.Ile1530Met)
c.2994C>G (p.Ile998Met)
n.5130C>G
6g.52024956G=CA1628646924PKHD1c.4854C= (p.Ile1618=)
c.4212C= (p.Ile1404=)
c.4143C= (p.Ile1381=)
c.4779C= (p.Ile1593=)
c.4590C= (p.Ile1530=)
c.2994C= (p.Ile998=)
n.5130C=
6g.52024956G>TCA450613994PKHD1c.4854C>A (p.Ile1618=)
c.4212C>A (p.Ile1404=)
c.4143C>A (p.Ile1381=)
c.4779C>A (p.Ile1593=)
c.4590C>A (p.Ile1530=)
c.2994C>A (p.Ile998=)
n.5130C>A
 ClinVar
6g.52024957A>CCA364431014PKHD1c.4853T>G (p.Ile1618Ser)
c.4211T>G (p.Ile1404Ser)
c.4142T>G (p.Ile1381Ser)
c.4778T>G (p.Ile1593Ser)
c.4589T>G (p.Ile1530Ser)
c.2993T>G (p.Ile998Ser)
n.5129T>G
6g.52024957A>GCA364431008PKHD1c.4853T>C (p.Ile1618Thr)
c.4211T>C (p.Ile1404Thr)
c.4142T>C (p.Ile1381Thr)
c.4778T>C (p.Ile1593Thr)
c.4589T>C (p.Ile1530Thr)
c.2993T>C (p.Ile998Thr)
n.5129T>C
6g.52024957A>TCA364431011PKHD1c.4853T>A (p.Ile1618Asn)
c.4211T>A (p.Ile1404Asn)
c.4142T>A (p.Ile1381Asn)
c.4778T>A (p.Ile1593Asn)
c.4589T>A (p.Ile1530Asn)
c.2993T>A (p.Ile998Asn)
n.5129T>A
6g.52024958T>ACA3852656PKHD1c.4852A>T (p.Ile1618Phe)
c.4210A>T (p.Ile1404Phe)
c.4141A>T (p.Ile1381Phe)
c.4777A>T (p.Ile1593Phe)
c.4588A>T (p.Ile1530Phe)
c.2992A>T (p.Ile998Phe)
n.5128A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024958T>CCA3852655PKHD1c.4852A>G (p.Ile1618Val)
c.4210A>G (p.Ile1404Val)
c.4141A>G (p.Ile1381Val)
c.4777A>G (p.Ile1593Val)
c.4588A>G (p.Ile1530Val)
c.2992A>G (p.Ile998Val)
n.5128A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024958T>GCA364431019PKHD1c.4852A>C (p.Ile1618Leu)
c.4210A>C (p.Ile1404Leu)
c.4141A>C (p.Ile1381Leu)
c.4777A>C (p.Ile1593Leu)
c.4588A>C (p.Ile1530Leu)
c.2992A>C (p.Ile998Leu)
n.5128A>C
6g.52024958T=CA1628646934PKHD1c.4852A= (p.Ile1618=)
c.4210A= (p.Ile1404=)
c.4141A= (p.Ile1381=)
c.4777A= (p.Ile1593=)
c.4588A= (p.Ile1530=)
c.2992A= (p.Ile998=)
n.5128A=
6g.52024959G>ACA450614001PKHD1c.4851C>T (p.Asn1617=)
c.4209C>T (p.Asn1403=)
c.4140C>T (p.Asn1380=)
c.4776C>T (p.Asn1592=)
c.4587C>T (p.Asn1529=)
c.2991C>T (p.Asn997=)
n.5127C>T
 dbSNP gnomAD v2 gnomAD v4
6g.52024959G>CCA364431022PKHD1c.4851C>G (p.Asn1617Lys)
c.4209C>G (p.Asn1403Lys)
c.4140C>G (p.Asn1380Lys)
c.4776C>G (p.Asn1592Lys)
c.4587C>G (p.Asn1529Lys)
c.2991C>G (p.Asn997Lys)
n.5127C>G
6g.52024959G=CA1628646940PKHD1c.4851C= (p.Asn1617=)
c.4209C= (p.Asn1403=)
c.4140C= (p.Asn1380=)
c.4776C= (p.Asn1592=)
c.4587C= (p.Asn1529=)
c.2991C= (p.Asn997=)
n.5127C=
6g.52024959G>TCA364431025PKHD1c.4851C>A (p.Asn1617Lys)
c.4209C>A (p.Asn1403Lys)
c.4140C>A (p.Asn1380Lys)
c.4776C>A (p.Asn1592Lys)
c.4587C>A (p.Asn1529Lys)
c.2991C>A (p.Asn997Lys)
n.5127C>A
6g.52024960T>ACA3852657PKHD1c.4850A>T (p.Asn1617Ile)
c.4208A>T (p.Asn1403Ile)
c.4139A>T (p.Asn1380Ile)
c.4775A>T (p.Asn1592Ile)
c.4586A>T (p.Asn1529Ile)
c.2990A>T (p.Asn997Ile)
n.5126A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52024960T>CCA364431029PKHD1c.4850A>G (p.Asn1617Ser)
c.4208A>G (p.Asn1403Ser)
c.4139A>G (p.Asn1380Ser)
c.4775A>G (p.Asn1592Ser)
c.4586A>G (p.Asn1529Ser)
c.2990A>G (p.Asn997Ser)
n.5126A>G
 gnomAD v4
6g.52024960T>GCA364431035PKHD1c.4850A>C (p.Asn1617Thr)
c.4208A>C (p.Asn1403Thr)
c.4139A>C (p.Asn1380Thr)
c.4775A>C (p.Asn1592Thr)
c.4586A>C (p.Asn1529Thr)
c.2990A>C (p.Asn997Thr)
n.5126A>C
6g.52024960T=CA1628646942PKHD1c.4850A= (p.Asn1617=)
c.4208A= (p.Asn1403=)
c.4139A= (p.Asn1380=)
c.4775A= (p.Asn1592=)
c.4586A= (p.Asn1529=)
c.2990A= (p.Asn997=)
n.5126A=
6g.52024961T>ACA364431036PKHD1c.4849A>T (p.Asn1617Tyr)
c.4207A>T (p.Asn1403Tyr)
c.4138A>T (p.Asn1380Tyr)
c.4774A>T (p.Asn1592Tyr)
c.4585A>T (p.Asn1529Tyr)
c.2989A>T (p.Asn997Tyr)
n.5125A>T
6g.52024961T>CCA138946383PKHD1c.4849A>G (p.Asn1617Asp)
c.4207A>G (p.Asn1403Asp)
c.4138A>G (p.Asn1380Asp)
c.4774A>G (p.Asn1592Asp)
c.4585A>G (p.Asn1529Asp)
c.2989A>G (p.Asn997Asp)
n.5125A>G
 dbSNP
6g.52024961T>GCA364431039PKHD1c.4849A>C (p.Asn1617His)
c.4207A>C (p.Asn1403His)
c.4138A>C (p.Asn1380His)
c.4774A>C (p.Asn1592His)
c.4585A>C (p.Asn1529His)
c.2989A>C (p.Asn997His)
n.5125A>C
6g.52024961T=CA1628646946PKHD1c.4849A= (p.Asn1617=)
c.4207A= (p.Asn1403=)
c.4138A= (p.Asn1380=)
c.4774A= (p.Asn1592=)
c.4585A= (p.Asn1529=)
c.2989A= (p.Asn997=)
n.5125A=
6g.52024962C>ACA450614007PKHD1c.4848G>T (p.Val1616=)
c.4206G>T (p.Val1402=)
c.4137G>T (p.Val1379=)
c.4773G>T (p.Val1591=)
c.4584G>T (p.Val1528=)
c.2988G>T (p.Val996=)
n.5124G>T
6g.52024962C>GCA450614008PKHD1c.4848G>C (p.Val1616=)
c.4206G>C (p.Val1402=)
c.4137G>C (p.Val1379=)
c.4773G>C (p.Val1591=)
c.4584G>C (p.Val1528=)
c.2988G>C (p.Val996=)
n.5124G>C
6g.52024962C>TCA450614009PKHD1c.4848G>A (p.Val1616=)
c.4206G>A (p.Val1402=)
c.4137G>A (p.Val1379=)
c.4773G>A (p.Val1591=)
c.4584G>A (p.Val1528=)
c.2988G>A (p.Val996=)
n.5124G>A
 gnomAD v4
6g.52024963A>CCA364431046PKHD1c.4847T>G (p.Val1616Gly)
c.4205T>G (p.Val1402Gly)
c.4136T>G (p.Val1379Gly)
c.4772T>G (p.Val1591Gly)
c.4583T>G (p.Val1528Gly)
c.2987T>G (p.Val996Gly)
n.5123T>G
6g.52024963A>GCA364431049PKHD1c.4847T>C (p.Val1616Ala)
c.4205T>C (p.Val1402Ala)
c.4136T>C (p.Val1379Ala)
c.4772T>C (p.Val1591Ala)
c.4583T>C (p.Val1528Ala)
c.2987T>C (p.Val996Ala)
n.5123T>C
6g.52024963A>TCA364431043PKHD1c.4847T>A (p.Val1616Glu)
c.4205T>A (p.Val1402Glu)
c.4136T>A (p.Val1379Glu)
c.4772T>A (p.Val1591Glu)
c.4583T>A (p.Val1528Glu)
c.2987T>A (p.Val996Glu)
n.5123T>A
6g.52024964C>ACA364431050PKHD1c.4846G>T (p.Val1616Leu)
c.4204G>T (p.Val1402Leu)
c.4135G>T (p.Val1379Leu)
c.4771G>T (p.Val1591Leu)
c.4582G>T (p.Val1528Leu)
c.2986G>T (p.Val996Leu)
n.5122G>T
6g.52024964C>GCA364431058PKHD1c.4846G>C (p.Val1616Leu)
c.4204G>C (p.Val1402Leu)
c.4135G>C (p.Val1379Leu)
c.4771G>C (p.Val1591Leu)
c.4582G>C (p.Val1528Leu)
c.2986G>C (p.Val996Leu)
n.5122G>C
6g.52024964C>TCA364431061PKHD1c.4846G>A (p.Val1616Met)
c.4204G>A (p.Val1402Met)
c.4135G>A (p.Val1379Met)
c.4771G>A (p.Val1591Met)
c.4582G>A (p.Val1528Met)
c.2986G>A (p.Val996Met)
n.5122G>A
6g.52024965C>ACA450614015PKHD1c.4845G>T (p.Thr1615=)
c.4203G>T (p.Thr1401=)
c.4134G>T (p.Thr1378=)
c.4770G>T (p.Thr1590=)
c.4581G>T (p.Thr1527=)
c.2985G>T (p.Thr995=)
n.5121G>T
 gnomAD v4
6g.52024965C=CA1628646953PKHD1c.4845G= (p.Thr1615=)
c.4203G= (p.Thr1401=)
c.4134G= (p.Thr1378=)
c.4770G= (p.Thr1590=)
c.4581G= (p.Thr1527=)
c.2985G= (p.Thr995=)
n.5121G=
6g.52024965C>GCA450614016PKHD1c.4845G>C (p.Thr1615=)
c.4203G>C (p.Thr1401=)
c.4134G>C (p.Thr1378=)
c.4770G>C (p.Thr1590=)
c.4581G>C (p.Thr1527=)
c.2985G>C (p.Thr995=)
n.5121G>C
6g.52024965C>TCA3852658PKHD1c.4845G>A (p.Thr1615=)
c.4203G>A (p.Thr1401=)
c.4134G>A (p.Thr1378=)
c.4770G>A (p.Thr1590=)
c.4581G>A (p.Thr1527=)
c.2985G>A (p.Thr995=)
n.5121G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024966G>ACA3852659PKHD1c.4844C>T (p.Thr1615Met)
c.4202C>T (p.Thr1401Met)
c.4133C>T (p.Thr1378Met)
c.4769C>T (p.Thr1590Met)
c.4580C>T (p.Thr1527Met)
c.2984C>T (p.Thr995Met)
n.5120C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024966G>CCA364431066PKHD1c.4844C>G (p.Thr1615Arg)
c.4202C>G (p.Thr1401Arg)
c.4133C>G (p.Thr1378Arg)
c.4769C>G (p.Thr1590Arg)
c.4580C>G (p.Thr1527Arg)
c.2984C>G (p.Thr995Arg)
n.5120C>G
6g.52024966G=CA1628646961PKHD1c.4844C= (p.Thr1615=)
c.4202C= (p.Thr1401=)
c.4133C= (p.Thr1378=)
c.4769C= (p.Thr1590=)
c.4580C= (p.Thr1527=)
c.2984C= (p.Thr995=)
n.5120C=
6g.52024966G>TCA3852660PKHD1c.4844C>A (p.Thr1615Lys)
c.4202C>A (p.Thr1401Lys)
c.4133C>A (p.Thr1378Lys)
c.4769C>A (p.Thr1590Lys)
c.4580C>A (p.Thr1527Lys)
c.2984C>A (p.Thr995Lys)
n.5120C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024967T>ACA364431072PKHD1c.4843A>T (p.Thr1615Ser)
c.4201A>T (p.Thr1401Ser)
c.4132A>T (p.Thr1378Ser)
c.4768A>T (p.Thr1590Ser)
c.4579A>T (p.Thr1527Ser)
c.2983A>T (p.Thr995Ser)
n.5119A>T
6g.52024967T>CCA364431073PKHD1c.4843A>G (p.Thr1615Ala)
c.4201A>G (p.Thr1401Ala)
c.4132A>G (p.Thr1378Ala)
c.4768A>G (p.Thr1590Ala)
c.4579A>G (p.Thr1527Ala)
c.2983A>G (p.Thr995Ala)
n.5119A>G
 gnomAD v4
6g.52024967T>GCA364431074PKHD1c.4843A>C (p.Thr1615Pro)
c.4201A>C (p.Thr1401Pro)
c.4132A>C (p.Thr1378Pro)
c.4768A>C (p.Thr1590Pro)
c.4579A>C (p.Thr1527Pro)
c.2983A>C (p.Thr995Pro)
n.5119A>C
6g.52024968C>ACA450614020PKHD1c.4842G>T (p.Leu1614=)
c.4200G>T (p.Leu1400=)
c.4131G>T (p.Leu1377=)
c.4767G>T (p.Leu1589=)
c.4578G>T (p.Leu1526=)
c.2982G>T (p.Leu994=)
n.5118G>T
6g.52024968C>GCA450614022PKHD1c.4842G>C (p.Leu1614=)
c.4200G>C (p.Leu1400=)
c.4131G>C (p.Leu1377=)
c.4767G>C (p.Leu1589=)
c.4578G>C (p.Leu1526=)
c.2982G>C (p.Leu994=)
n.5118G>C
6g.52024968C>TCA450614021PKHD1c.4842G>A (p.Leu1614=)
c.4200G>A (p.Leu1400=)
c.4131G>A (p.Leu1377=)
c.4767G>A (p.Leu1589=)
c.4578G>A (p.Leu1526=)
c.2982G>A (p.Leu994=)
n.5118G>A
6g.52024969A>CCA364431075PKHD1c.4841T>G (p.Leu1614Arg)
c.4199T>G (p.Leu1400Arg)
c.4130T>G (p.Leu1377Arg)
c.4766T>G (p.Leu1589Arg)
c.4577T>G (p.Leu1526Arg)
c.2981T>G (p.Leu994Arg)
n.5117T>G
6g.52024969A>GCA364431077PKHD1c.4841T>C (p.Leu1614Pro)
c.4199T>C (p.Leu1400Pro)
c.4130T>C (p.Leu1377Pro)
c.4766T>C (p.Leu1589Pro)
c.4577T>C (p.Leu1526Pro)
c.2981T>C (p.Leu994Pro)
n.5117T>C
6g.52024969A>TCA364431078PKHD1c.4841T>A (p.Leu1614Gln)
c.4199T>A (p.Leu1400Gln)
c.4130T>A (p.Leu1377Gln)
c.4766T>A (p.Leu1589Gln)
c.4577T>A (p.Leu1526Gln)
c.2981T>A (p.Leu994Gln)
n.5117T>A
6g.52024970G>ACA450614026PKHD1c.4840C>T (p.Leu1614=)
c.4198C>T (p.Leu1400=)
c.4129C>T (p.Leu1377=)
c.4765C>T (p.Leu1589=)
c.4576C>T (p.Leu1526=)
c.2980C>T (p.Leu994=)
n.5116C>T
 ClinVar dbSNP
6g.52024970G>CCA364431082PKHD1c.4840C>G (p.Leu1614Val)
c.4198C>G (p.Leu1400Val)
c.4129C>G (p.Leu1377Val)
c.4765C>G (p.Leu1589Val)
c.4576C>G (p.Leu1526Val)
c.2980C>G (p.Leu994Val)
n.5116C>G
6g.52024970G>TCA364431080PKHD1c.4840C>A (p.Leu1614Met)
c.4198C>A (p.Leu1400Met)
c.4129C>A (p.Leu1377Met)
c.4765C>A (p.Leu1589Met)
c.4576C>A (p.Leu1526Met)
c.2980C>A (p.Leu994Met)
n.5116C>A
6g.52024971G>ACA138946389PKHD1c.4839C>T (p.Cys1613=)
c.4197C>T (p.Cys1399=)
c.4128C>T (p.Cys1376=)
c.4764C>T (p.Cys1588=)
c.4575C>T (p.Cys1525=)
c.2979C>T (p.Cys993=)
n.5115C>T
 ClinVar dbSNP gnomAD v4
6g.52024971G>CCA364431084PKHD1c.4839C>G (p.Cys1613Trp)
c.4197C>G (p.Cys1399Trp)
c.4128C>G (p.Cys1376Trp)
c.4764C>G (p.Cys1588Trp)
c.4575C>G (p.Cys1525Trp)
c.2979C>G (p.Cys993Trp)
n.5115C>G
6g.52024971G=CA1628646965PKHD1c.4839C= (p.Cys1613=)
c.4197C= (p.Cys1399=)
c.4128C= (p.Cys1376=)
c.4764C= (p.Cys1588=)
c.4575C= (p.Cys1525=)
c.2979C= (p.Cys993=)
n.5115C=
6g.52024971G>TCA364431087PKHD1c.4839C>A (p.Cys1613Ter)
c.4197C>A (p.Cys1399Ter)
c.4128C>A (p.Cys1376Ter)
c.4764C>A (p.Cys1588Ter)
c.4575C>A (p.Cys1525Ter)
c.2979C>A (p.Cys993Ter)
n.5115C>A
6g.52024972C>ACA364431089PKHD1c.4838G>T (p.Cys1613Phe)
c.4196G>T (p.Cys1399Phe)
c.4127G>T (p.Cys1376Phe)
c.4763G>T (p.Cys1588Phe)
c.4574G>T (p.Cys1525Phe)
c.2978G>T (p.Cys993Phe)
n.5114G>T
 ClinVar gnomAD v4
6g.52024972C=CA1628646968PKHD1c.4838G= (p.Cys1613=)
c.4196G= (p.Cys1399=)
c.4127G= (p.Cys1376=)
c.4763G= (p.Cys1588=)
c.4574G= (p.Cys1525=)
c.2978G= (p.Cys993=)
n.5114G=
6g.52024972C>GCA364431092PKHD1c.4838G>C (p.Cys1613Ser)
c.4196G>C (p.Cys1399Ser)
c.4127G>C (p.Cys1376Ser)
c.4763G>C (p.Cys1588Ser)
c.4574G>C (p.Cys1525Ser)
c.2978G>C (p.Cys993Ser)
n.5114G>C
6g.52024972C>TCA3852661PKHD1c.4838G>A (p.Cys1613Tyr)
c.4196G>A (p.Cys1399Tyr)
c.4127G>A (p.Cys1376Tyr)
c.4763G>A (p.Cys1588Tyr)
c.4574G>A (p.Cys1525Tyr)
c.2978G>A (p.Cys993Tyr)
n.5114G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024973A>CCA364431103PKHD1c.4837T>G (p.Cys1613Gly)
c.4195T>G (p.Cys1399Gly)
c.4126T>G (p.Cys1376Gly)
c.4762T>G (p.Cys1588Gly)
c.4573T>G (p.Cys1525Gly)
c.2977T>G (p.Cys993Gly)
n.5113T>G
6g.52024973A>GCA364431112PKHD1c.4837T>C (p.Cys1613Arg)
c.4195T>C (p.Cys1399Arg)
c.4126T>C (p.Cys1376Arg)
c.4762T>C (p.Cys1588Arg)
c.4573T>C (p.Cys1525Arg)
c.2977T>C (p.Cys993Arg)
n.5113T>C
6g.52024973A>TCA364431122PKHD1c.4837T>A (p.Cys1613Ser)
c.4195T>A (p.Cys1399Ser)
c.4126T>A (p.Cys1376Ser)
c.4762T>A (p.Cys1588Ser)
c.4573T>A (p.Cys1525Ser)
c.2977T>A (p.Cys993Ser)
n.5113T>A
6g.52024974G>ACA450614033PKHD1c.4836C>T (p.Thr1612=)
c.4194C>T (p.Thr1398=)
c.4125C>T (p.Thr1375=)
c.4761C>T (p.Thr1587=)
c.4572C>T (p.Thr1524=)
c.2976C>T (p.Thr992=)
n.5112C>T
6g.52024974G>CCA450614034PKHD1c.4836C>G (p.Thr1612=)
c.4194C>G (p.Thr1398=)
c.4125C>G (p.Thr1375=)
c.4761C>G (p.Thr1587=)
c.4572C>G (p.Thr1524=)
c.2976C>G (p.Thr992=)
n.5112C>G
6g.52024974G=CA1628646973PKHD1c.4836C= (p.Thr1612=)
c.4194C= (p.Thr1398=)
c.4125C= (p.Thr1375=)
c.4761C= (p.Thr1587=)
c.4572C= (p.Thr1524=)
c.2976C= (p.Thr992=)
n.5112C=
6g.52024974G>TCA450614035PKHD1c.4836C>A (p.Thr1612=)
c.4194C>A (p.Thr1398=)
c.4125C>A (p.Thr1375=)
c.4761C>A (p.Thr1587=)
c.4572C>A (p.Thr1524=)
c.2976C>A (p.Thr992=)
n.5112C>A
 dbSNP gnomAD v2 gnomAD v4
6g.52024975delCA2499218363PKHD1c.4836del (p.Cys1613AlafsTer2)
c.4194del (p.Cys1399AlafsTer2)
c.4125del (p.Cys1376AlafsTer2)
c.4761del (p.Cys1588AlafsTer2)
c.4572del (p.Cys1525AlafsTer2)
c.2976del (p.Cys993AlafsTer2)
n.5112del
 ClinVar dbSNP
6g.52024975G>ACA364431128PKHD1c.4835C>T (p.Thr1612Ile)
c.4193C>T (p.Thr1398Ile)
c.4124C>T (p.Thr1375Ile)
c.4760C>T (p.Thr1587Ile)
c.4571C>T (p.Thr1524Ile)
c.2975C>T (p.Thr992Ile)
n.5111C>T
6g.52024975G>CCA364431132PKHD1c.4835C>G (p.Thr1612Ser)
c.4193C>G (p.Thr1398Ser)
c.4124C>G (p.Thr1375Ser)
c.4760C>G (p.Thr1587Ser)
c.4571C>G (p.Thr1524Ser)
c.2975C>G (p.Thr992Ser)
n.5111C>G
6g.52024975G=CA1628646975PKHD1c.4835C= (p.Thr1612=)
c.4193C= (p.Thr1398=)
c.4124C= (p.Thr1375=)
c.4760C= (p.Thr1587=)
c.4571C= (p.Thr1524=)
c.2975C= (p.Thr992=)
n.5111C=
6g.52024975G>TCA3852662PKHD1c.4835C>A (p.Thr1612Asn)
c.4193C>A (p.Thr1398Asn)
c.4124C>A (p.Thr1375Asn)
c.4760C>A (p.Thr1587Asn)
c.4571C>A (p.Thr1524Asn)
c.2975C>A (p.Thr992Asn)
n.5111C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024976T>ACA364431136PKHD1c.4834A>T (p.Thr1612Ser)
c.4192A>T (p.Thr1398Ser)
c.4123A>T (p.Thr1375Ser)
c.4759A>T (p.Thr1587Ser)
c.4570A>T (p.Thr1524Ser)
c.2974A>T (p.Thr992Ser)
n.5110A>T
6g.52024976T>CCA364431139PKHD1c.4834A>G (p.Thr1612Ala)
c.4192A>G (p.Thr1398Ala)
c.4123A>G (p.Thr1375Ala)
c.4759A>G (p.Thr1587Ala)
c.4570A>G (p.Thr1524Ala)
c.2974A>G (p.Thr992Ala)
n.5110A>G
 dbSNP
6g.52024976T>GCA364431142PKHD1c.4834A>C (p.Thr1612Pro)
c.4192A>C (p.Thr1398Pro)
c.4123A>C (p.Thr1375Pro)
c.4759A>C (p.Thr1587Pro)
c.4570A>C (p.Thr1524Pro)
c.2974A>C (p.Thr992Pro)
n.5110A>C
6g.52024976T=CA1628646980PKHD1c.4834A= (p.Thr1612=)
c.4192A= (p.Thr1398=)
c.4123A= (p.Thr1375=)
c.4759A= (p.Thr1587=)
c.4570A= (p.Thr1524=)
c.2974A= (p.Thr992=)
n.5110A=
6g.52024977C>ACA364431143PKHD1c.4833G>T (p.Gln1611His)
c.4191G>T (p.Gln1397His)
c.4122G>T (p.Gln1374His)
c.4758G>T (p.Gln1586His)
c.4569G>T (p.Gln1523His)
c.2973G>T (p.Gln991His)
n.5109G>T
 COSMIC COSMIC
6g.52024977C>GCA364431144PKHD1c.4833G>C (p.Gln1611His)
c.4191G>C (p.Gln1397His)
c.4122G>C (p.Gln1374His)
c.4758G>C (p.Gln1586His)
c.4569G>C (p.Gln1523His)
c.2973G>C (p.Gln991His)
n.5109G>C
6g.52024977C>TCA450614039PKHD1c.4833G>A (p.Gln1611=)
c.4191G>A (p.Gln1397=)
c.4122G>A (p.Gln1374=)
c.4758G>A (p.Gln1586=)
c.4569G>A (p.Gln1523=)
c.2973G>A (p.Gln991=)
n.5109G>A
6g.52024978T>ACA364431146PKHD1c.4832A>T (p.Gln1611Leu)
c.4190A>T (p.Gln1397Leu)
c.4121A>T (p.Gln1374Leu)
c.4757A>T (p.Gln1586Leu)
c.4568A>T (p.Gln1523Leu)
c.2972A>T (p.Gln991Leu)
n.5108A>T
6g.52024978T>CCA364431163PKHD1c.4832A>G (p.Gln1611Arg)
c.4190A>G (p.Gln1397Arg)
c.4121A>G (p.Gln1374Arg)
c.4757A>G (p.Gln1586Arg)
c.4568A>G (p.Gln1523Arg)
c.2972A>G (p.Gln991Arg)
n.5108A>G
 dbSNP gnomAD v3 gnomAD v4
6g.52024978T>GCA364431157PKHD1c.4832A>C (p.Gln1611Pro)
c.4190A>C (p.Gln1397Pro)
c.4121A>C (p.Gln1374Pro)
c.4757A>C (p.Gln1586Pro)
c.4568A>C (p.Gln1523Pro)
c.2972A>C (p.Gln991Pro)
n.5108A>C
 dbSNP gnomAD v2 gnomAD v4
6g.52024978T=CA1628646983PKHD1c.4832A= (p.Gln1611=)
c.4190A= (p.Gln1397=)
c.4121A= (p.Gln1374=)
c.4757A= (p.Gln1586=)
c.4568A= (p.Gln1523=)
c.2972A= (p.Gln991=)
n.5108A=
6g.52024979G>ACA364431166PKHD1c.4831C>T (p.Gln1611Ter)
c.4189C>T (p.Gln1397Ter)
c.4120C>T (p.Gln1374Ter)
c.4756C>T (p.Gln1586Ter)
c.4567C>T (p.Gln1523Ter)
c.2971C>T (p.Gln991Ter)
n.5107C>T
6g.52024979G>CCA364431171PKHD1c.4831C>G (p.Gln1611Glu)
c.4189C>G (p.Gln1397Glu)
c.4120C>G (p.Gln1374Glu)
c.4756C>G (p.Gln1586Glu)
c.4567C>G (p.Gln1523Glu)
c.2971C>G (p.Gln991Glu)
n.5107C>G
6g.52024979G=CA1628646987PKHD1c.4831C= (p.Gln1611=)
c.4189C= (p.Gln1397=)
c.4120C= (p.Gln1374=)
c.4756C= (p.Gln1586=)
c.4567C= (p.Gln1523=)
c.2971C= (p.Gln991=)
n.5107C=
6g.52024979G>TCA3852663PKHD1c.4831C>A (p.Gln1611Lys)
c.4189C>A (p.Gln1397Lys)
c.4120C>A (p.Gln1374Lys)
c.4756C>A (p.Gln1586Lys)
c.4567C>A (p.Gln1523Lys)
c.2971C>A (p.Gln991Lys)
n.5107C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.52024980C>ACA364431175PKHD1c.4830G>T (p.Gln1610His)
c.4188G>T (p.Gln1396His)
c.4119G>T (p.Gln1373His)
c.4755G>T (p.Gln1585His)
c.4566G>T (p.Gln1522His)
c.2970G>T (p.Gln990His)
n.5106G>T
 dbSNP gnomAD v2 gnomAD v4
6g.52024980C=CA1628646990PKHD1c.4830G= (p.Gln1610=)
c.4188G= (p.Gln1396=)
c.4119G= (p.Gln1373=)
c.4755G= (p.Gln1585=)
c.4566G= (p.Gln1522=)
c.2970G= (p.Gln990=)
n.5106G=
6g.52024980C>GCA364431177PKHD1c.4830G>C (p.Gln1610His)
c.4188G>C (p.Gln1396His)
c.4119G>C (p.Gln1373His)
c.4755G>C (p.Gln1585His)
c.4566G>C (p.Gln1522His)
c.2970G>C (p.Gln990His)
n.5106G>C
6g.52024980C>TCA450614043PKHD1c.4830G>A (p.Gln1610=)
c.4188G>A (p.Gln1396=)
c.4119G>A (p.Gln1373=)
c.4755G>A (p.Gln1585=)
c.4566G>A (p.Gln1522=)
c.2970G>A (p.Gln990=)
n.5106G>A
6g.52024981T>ACA364431179PKHD1c.4829A>T (p.Gln1610Leu)
c.4187A>T (p.Gln1396Leu)
c.4118A>T (p.Gln1373Leu)
c.4754A>T (p.Gln1585Leu)
c.4565A>T (p.Gln1522Leu)
c.2969A>T (p.Gln990Leu)
n.5105A>T
6g.52024981T>CCA364431181PKHD1c.4829A>G (p.Gln1610Arg)
c.4187A>G (p.Gln1396Arg)
c.4118A>G (p.Gln1373Arg)
c.4754A>G (p.Gln1585Arg)
c.4565A>G (p.Gln1522Arg)
c.2969A>G (p.Gln990Arg)
n.5105A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52024981T>GCA364431183PKHD1c.4829A>C (p.Gln1610Pro)
c.4187A>C (p.Gln1396Pro)
c.4118A>C (p.Gln1373Pro)
c.4754A>C (p.Gln1585Pro)
c.4565A>C (p.Gln1522Pro)
c.2969A>C (p.Gln990Pro)
n.5105A>C
6g.52024981T=CA1628646991PKHD1c.4829A= (p.Gln1610=)
c.4187A= (p.Gln1396=)
c.4118A= (p.Gln1373=)
c.4754A= (p.Gln1585=)
c.4565A= (p.Gln1522=)
c.2969A= (p.Gln990=)
n.5105A=
6g.52024982G>ACA138946405PKHD1c.4828C>T (p.Gln1610Ter)
c.4186C>T (p.Gln1396Ter)
c.4117C>T (p.Gln1373Ter)
c.4753C>T (p.Gln1585Ter)
c.4564C>T (p.Gln1522Ter)
c.2968C>T (p.Gln990Ter)
n.5104C>T
 dbSNP
6g.52024982G>CCA364431187PKHD1c.4828C>G (p.Gln1610Glu)
c.4186C>G (p.Gln1396Glu)
c.4117C>G (p.Gln1373Glu)
c.4753C>G (p.Gln1585Glu)
c.4564C>G (p.Gln1522Glu)
c.2968C>G (p.Gln990Glu)
n.5104C>G
6g.52024982G=CA1628646996PKHD1c.4828C= (p.Gln1610=)
c.4186C= (p.Gln1396=)
c.4117C= (p.Gln1373=)
c.4753C= (p.Gln1585=)
c.4564C= (p.Gln1522=)
c.2968C= (p.Gln990=)
n.5104C=
6g.52024982G>TCA3852664PKHD1c.4828C>A (p.Gln1610Lys)
c.4186C>A (p.Gln1396Lys)
c.4117C>A (p.Gln1373Lys)
c.4753C>A (p.Gln1585Lys)
c.4564C>A (p.Gln1522Lys)
c.2968C>A (p.Gln990Lys)
n.5104C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024983G>ACA450614046PKHD1c.4827C>T (p.Asp1609=)
c.4185C>T (p.Asp1395=)
c.4116C>T (p.Asp1372=)
c.4752C>T (p.Asp1584=)
c.4563C>T (p.Asp1521=)
c.2967C>T (p.Asp989=)
n.5103C>T
 ClinVar
6g.52024983G>CCA364431190PKHD1c.4827C>G (p.Asp1609Glu)
c.4185C>G (p.Asp1395Glu)
c.4116C>G (p.Asp1372Glu)
c.4752C>G (p.Asp1584Glu)
c.4563C>G (p.Asp1521Glu)
c.2967C>G (p.Asp989Glu)
n.5103C>G
6g.52024983G>TCA364431191PKHD1c.4827C>A (p.Asp1609Glu)
c.4185C>A (p.Asp1395Glu)
c.4116C>A (p.Asp1372Glu)
c.4752C>A (p.Asp1584Glu)
c.4563C>A (p.Asp1521Glu)
c.2967C>A (p.Asp989Glu)
n.5103C>A
6g.52024984T>ACA364431194PKHD1c.4826A>T (p.Asp1609Val)
c.4184A>T (p.Asp1395Val)
c.4115A>T (p.Asp1372Val)
c.4751A>T (p.Asp1584Val)
c.4562A>T (p.Asp1521Val)
c.2966A>T (p.Asp989Val)
n.5102A>T
6g.52024984T>CCA364431195PKHD1c.4826A>G (p.Asp1609Gly)
c.4184A>G (p.Asp1395Gly)
c.4115A>G (p.Asp1372Gly)
c.4751A>G (p.Asp1584Gly)
c.4562A>G (p.Asp1521Gly)
c.2966A>G (p.Asp989Gly)
n.5102A>G
6g.52024984T>GCA364431196PKHD1c.4826A>C (p.Asp1609Ala)
c.4184A>C (p.Asp1395Ala)
c.4115A>C (p.Asp1372Ala)
c.4751A>C (p.Asp1584Ala)
c.4562A>C (p.Asp1521Ala)
c.2966A>C (p.Asp989Ala)
n.5102A>C
 gnomAD v4
6g.52024985C>ACA364431198PKHD1c.4825G>T (p.Asp1609Tyr)
c.4183G>T (p.Asp1395Tyr)
c.4114G>T (p.Asp1372Tyr)
c.4750G>T (p.Asp1584Tyr)
c.4561G>T (p.Asp1521Tyr)
c.2965G>T (p.Asp989Tyr)
n.5101G>T
6g.52024985C>GCA364431202PKHD1c.4825G>C (p.Asp1609His)
c.4183G>C (p.Asp1395His)
c.4114G>C (p.Asp1372His)
c.4750G>C (p.Asp1584His)
c.4561G>C (p.Asp1521His)
c.2965G>C (p.Asp989His)
n.5101G>C
6g.52024985C>TCA364431201PKHD1c.4825G>A (p.Asp1609Asn)
c.4183G>A (p.Asp1395Asn)
c.4114G>A (p.Asp1372Asn)
c.4750G>A (p.Asp1584Asn)
c.4561G>A (p.Asp1521Asn)
c.2965G>A (p.Asp989Asn)
n.5101G>A
6g.52024986A>CCA364431203PKHD1c.4824T>G (p.Ile1608Met)
c.4182T>G (p.Ile1394Met)
c.4113T>G (p.Ile1371Met)
c.4749T>G (p.Ile1583Met)
c.4560T>G (p.Ile1520Met)
c.2964T>G (p.Ile988Met)
n.5100T>G
6g.52024986A>GCA450614047PKHD1c.4824T>C (p.Ile1608=)
c.4182T>C (p.Ile1394=)
c.4113T>C (p.Ile1371=)
c.4749T>C (p.Ile1583=)
c.4560T>C (p.Ile1520=)
c.2964T>C (p.Ile988=)
n.5100T>C
6g.52024986A>TCA450614048PKHD1c.4824T>A (p.Ile1608=)
c.4182T>A (p.Ile1394=)
c.4113T>A (p.Ile1371=)
c.4749T>A (p.Ile1583=)
c.4560T>A (p.Ile1520=)
c.2964T>A (p.Ile988=)
n.5100T>A
6g.52024986_52024988delinsAATCA1628646999PKHD1c.4822_4824delinsATT (p.Ile1608=)
c.4180_4182delinsATT (p.Ile1394=)
c.4111_4113delinsATT (p.Ile1371=)
c.4747_4749delinsATT (p.Ile1583=)
c.4558_4560delinsATT (p.Ile1520=)
c.2962_2964delinsATT (p.Ile988=)
n.5098_5100delinsATT
6g.52024987A>CCA364431206PKHD1c.4823T>G (p.Ile1608Ser)
c.4181T>G (p.Ile1394Ser)
c.4112T>G (p.Ile1371Ser)
c.4748T>G (p.Ile1583Ser)
c.4559T>G (p.Ile1520Ser)
c.2963T>G (p.Ile988Ser)
n.5099T>G
6g.52024987A>GCA364431208PKHD1c.4823T>C (p.Ile1608Thr)
c.4181T>C (p.Ile1394Thr)
c.4112T>C (p.Ile1371Thr)
c.4748T>C (p.Ile1583Thr)
c.4559T>C (p.Ile1520Thr)
c.2963T>C (p.Ile988Thr)
n.5099T>C
6g.52024987A>TCA364431210PKHD1c.4823T>A (p.Ile1608Asn)
c.4181T>A (p.Ile1394Asn)
c.4112T>A (p.Ile1371Asn)
c.4748T>A (p.Ile1583Asn)
c.4559T>A (p.Ile1520Asn)
c.2963T>A (p.Ile988Asn)
n.5099T>A
6g.52024990_52024991delCA16041052PKHD1c.4822_4823del (p.Ile1608Ter)
c.4180_4181del (p.Ile1394Ter)
c.4111_4112del (p.Ile1371Ter)
c.4747_4748del (p.Ile1583Ter)
c.4558_4559del (p.Ile1520Ter)
c.2962_2963del (p.Ile988Ter)
n.5098_5099del
 ClinVar dbSNP gnomAD v4
6g.52024988T>ACA364431218PKHD1c.4822A>T (p.Ile1608Phe)
c.4180A>T (p.Ile1394Phe)
c.4111A>T (p.Ile1371Phe)
c.4747A>T (p.Ile1583Phe)
c.4558A>T (p.Ile1520Phe)
c.2962A>T (p.Ile988Phe)
n.5098A>T
 gnomAD v4
6g.52024988T>CCA364431220PKHD1c.4822A>G (p.Ile1608Val)
c.4180A>G (p.Ile1394Val)
c.4111A>G (p.Ile1371Val)
c.4747A>G (p.Ile1583Val)
c.4558A>G (p.Ile1520Val)
c.2962A>G (p.Ile988Val)
n.5098A>G
 gnomAD v4
6g.52024988T>GCA364431226PKHD1c.4822A>C (p.Ile1608Leu)
c.4180A>C (p.Ile1394Leu)
c.4111A>C (p.Ile1371Leu)
c.4747A>C (p.Ile1583Leu)
c.4558A>C (p.Ile1520Leu)
c.2962A>C (p.Ile988Leu)
n.5098A>C
6g.52024989A>CCA364431228PKHD1c.4821T>G (p.Tyr1607Ter)
c.4179T>G (p.Tyr1393Ter)
c.4110T>G (p.Tyr1370Ter)
c.4746T>G (p.Tyr1582Ter)
c.4557T>G (p.Tyr1519Ter)
c.2961T>G (p.Tyr987Ter)
n.5097T>G
6g.52024989A>GCA450614054PKHD1c.4821T>C (p.Tyr1607=)
c.4179T>C (p.Tyr1393=)
c.4110T>C (p.Tyr1370=)
c.4746T>C (p.Tyr1582=)
c.4557T>C (p.Tyr1519=)
c.2961T>C (p.Tyr987=)
n.5097T>C
6g.52024989A>TCA364431230PKHD1c.4821T>A (p.Tyr1607Ter)
c.4179T>A (p.Tyr1393Ter)
c.4110T>A (p.Tyr1370Ter)
c.4746T>A (p.Tyr1582Ter)
c.4557T>A (p.Tyr1519Ter)
c.2961T>A (p.Tyr987Ter)
n.5097T>A
6g.52024990T>ACA364431235PKHD1c.4820A>T (p.Tyr1607Phe)
c.4178A>T (p.Tyr1393Phe)
c.4109A>T (p.Tyr1370Phe)
c.4745A>T (p.Tyr1582Phe)
c.4556A>T (p.Tyr1519Phe)
c.2960A>T (p.Tyr987Phe)
n.5096A>T
6g.52024990T>CCA3852665PKHD1c.4820A>G (p.Tyr1607Cys)
c.4178A>G (p.Tyr1393Cys)
c.4109A>G (p.Tyr1370Cys)
c.4745A>G (p.Tyr1582Cys)
c.4556A>G (p.Tyr1519Cys)
c.2960A>G (p.Tyr987Cys)
n.5096A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52024990T>GCA364431233PKHD1c.4820A>C (p.Tyr1607Ser)
c.4178A>C (p.Tyr1393Ser)
c.4109A>C (p.Tyr1370Ser)
c.4745A>C (p.Tyr1582Ser)
c.4556A>C (p.Tyr1519Ser)
c.2960A>C (p.Tyr987Ser)
n.5096A>C
6g.52024990T=CA1628647007PKHD1c.4820A= (p.Tyr1607=)
c.4178A= (p.Tyr1393=)
c.4109A= (p.Tyr1370=)
c.4745A= (p.Tyr1582=)
c.4556A= (p.Tyr1519=)
c.2960A= (p.Tyr987=)
n.5096A=
6g.52024991A>CCA364431241PKHD1c.4819T>G (p.Tyr1607Asp)
c.4177T>G (p.Tyr1393Asp)
c.4108T>G (p.Tyr1370Asp)
c.4744T>G (p.Tyr1582Asp)
c.4555T>G (p.Tyr1519Asp)
c.2959T>G (p.Tyr987Asp)
n.5095T>G
6g.52024991A>GCA364431237PKHD1c.4819T>C (p.Tyr1607His)
c.4177T>C (p.Tyr1393His)
c.4108T>C (p.Tyr1370His)
c.4744T>C (p.Tyr1582His)
c.4555T>C (p.Tyr1519His)
c.2959T>C (p.Tyr987His)
n.5095T>C
6g.52024991A>TCA364431239PKHD1c.4819T>A (p.Tyr1607Asn)
c.4177T>A (p.Tyr1393Asn)
c.4108T>A (p.Tyr1370Asn)
c.4744T>A (p.Tyr1582Asn)
c.4555T>A (p.Tyr1519Asn)
c.2959T>A (p.Tyr987Asn)
n.5095T>A
6g.52024992G>ACA450614057PKHD1c.4818C>T (p.Val1606=)
c.4176C>T (p.Val1392=)
c.4107C>T (p.Val1369=)
c.4743C>T (p.Val1581=)
c.4554C>T (p.Val1518=)
c.2958C>T (p.Val986=)
n.5094C>T
 COSMIC COSMIC
6g.52024992G>CCA450614059PKHD1c.4818C>G (p.Val1606=)
c.4176C>G (p.Val1392=)
c.4107C>G (p.Val1369=)
c.4743C>G (p.Val1581=)
c.4554C>G (p.Val1518=)
c.2958C>G (p.Val986=)
n.5094C>G
6g.52024992G>TCA450614061PKHD1c.4818C>A (p.Val1606=)
c.4176C>A (p.Val1392=)
c.4107C>A (p.Val1369=)
c.4743C>A (p.Val1581=)
c.4554C>A (p.Val1518=)
c.2958C>A (p.Val986=)
n.5094C>A
 COSMIC COSMIC
6g.52024993A>CCA364431247PKHD1c.4817T>G (p.Val1606Gly)
c.4175T>G (p.Val1392Gly)
c.4106T>G (p.Val1369Gly)
c.4742T>G (p.Val1581Gly)
c.4553T>G (p.Val1518Gly)
c.2957T>G (p.Val986Gly)
n.5093T>G
6g.52024993A>GCA364431260PKHD1c.4817T>C (p.Val1606Ala)
c.4175T>C (p.Val1392Ala)
c.4106T>C (p.Val1369Ala)
c.4742T>C (p.Val1581Ala)
c.4553T>C (p.Val1518Ala)
c.2957T>C (p.Val986Ala)
n.5093T>C
6g.52024993A>TCA364431261PKHD1c.4817T>A (p.Val1606Asp)
c.4175T>A (p.Val1392Asp)
c.4106T>A (p.Val1369Asp)
c.4742T>A (p.Val1581Asp)
c.4553T>A (p.Val1518Asp)
c.2957T>A (p.Val986Asp)
n.5093T>A
6g.52024994delCA2573140961PKHD1c.4816del (p.Val1606SerfsTer9)
c.4174del (p.Val1392SerfsTer9)
c.4105del (p.Val1369SerfsTer9)
c.4741del (p.Val1581SerfsTer9)
c.4552del (p.Val1518SerfsTer9)
c.2956del (p.Val986SerfsTer9)
n.5092del
 ClinVar dbSNP
6g.52024994C>ACA364431264PKHD1c.4816G>T (p.Val1606Phe)
c.4174G>T (p.Val1392Phe)
c.4105G>T (p.Val1369Phe)
c.4741G>T (p.Val1581Phe)
c.4552G>T (p.Val1518Phe)
c.2956G>T (p.Val986Phe)
n.5092G>T
6g.52024994C=CA1628647013PKHD1c.4816G= (p.Val1606=)
c.4174G= (p.Val1392=)
c.4105G= (p.Val1369=)
c.4741G= (p.Val1581=)
c.4552G= (p.Val1518=)
c.2956G= (p.Val986=)
n.5092G=
6g.52024994C>GCA364431265PKHD1c.4816G>C (p.Val1606Leu)
c.4174G>C (p.Val1392Leu)
c.4105G>C (p.Val1369Leu)
c.4741G>C (p.Val1581Leu)
c.4552G>C (p.Val1518Leu)
c.2956G>C (p.Val986Leu)
n.5092G>C
 dbSNP
6g.52024994C>TCA3852666PKHD1c.4816G>A (p.Val1606Ile)
c.4174G>A (p.Val1392Ile)
c.4105G>A (p.Val1369Ile)
c.4741G>A (p.Val1581Ile)
c.4552G>A (p.Val1518Ile)
c.2956G>A (p.Val986Ile)
n.5092G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52024995T>ACA450614066PKHD1c.4815A>T (p.Ser1605=)
c.4173A>T (p.Ser1391=)
c.4104A>T (p.Ser1368=)
c.4740A>T (p.Ser1580=)
c.4551A>T (p.Ser1517=)
c.2955A>T (p.Ser985=)
n.5091A>T
6g.52024995T>CCA450614065PKHD1c.4815A>G (p.Ser1605=)
c.4173A>G (p.Ser1391=)
c.4104A>G (p.Ser1368=)
c.4740A>G (p.Ser1580=)
c.4551A>G (p.Ser1517=)
c.2955A>G (p.Ser985=)
n.5091A>G
 dbSNP gnomAD v2 gnomAD v4
6g.52024995T>GCA450614064PKHD1c.4815A>C (p.Ser1605=)
c.4173A>C (p.Ser1391=)
c.4104A>C (p.Ser1368=)
c.4740A>C (p.Ser1580=)
c.4551A>C (p.Ser1517=)
c.2955A>C (p.Ser985=)
n.5091A>C
 gnomAD v4
6g.52024995T=CA1628647018PKHD1c.4815A= (p.Ser1605=)
c.4173A= (p.Ser1391=)
c.4104A= (p.Ser1368=)
c.4740A= (p.Ser1580=)
c.4551A= (p.Ser1517=)
c.2955A= (p.Ser985=)
n.5091A=
6g.52024996G>ACA364431280PKHD1c.4814C>T (p.Ser1605Leu)
c.4172C>T (p.Ser1391Leu)
c.4103C>T (p.Ser1368Leu)
c.4739C>T (p.Ser1580Leu)
c.4550C>T (p.Ser1517Leu)
c.2954C>T (p.Ser985Leu)
n.5090C>T
 gnomAD v4
6g.52024996G>CCA364431281PKHD1c.4814C>G (p.Ser1605Ter)
c.4172C>G (p.Ser1391Ter)
c.4103C>G (p.Ser1368Ter)
c.4739C>G (p.Ser1580Ter)
c.4550C>G (p.Ser1517Ter)
c.2954C>G (p.Ser985Ter)
n.5090C>G
6g.52024996G>TCA364431283PKHD1c.4814C>A (p.Ser1605Ter)
c.4172C>A (p.Ser1391Ter)
c.4103C>A (p.Ser1368Ter)
c.4739C>A (p.Ser1580Ter)
c.4550C>A (p.Ser1517Ter)
c.2954C>A (p.Ser985Ter)
n.5090C>A
6g.52024997A>CCA364431288PKHD1c.4813T>G (p.Ser1605Ala)
c.4171T>G (p.Ser1391Ala)
c.4102T>G (p.Ser1368Ala)
c.4738T>G (p.Ser1580Ala)
c.4549T>G (p.Ser1517Ala)
c.2953T>G (p.Ser985Ala)
n.5089T>G
6g.52024997A>GCA364431289PKHD1c.4813T>C (p.Ser1605Pro)
c.4171T>C (p.Ser1391Pro)
c.4102T>C (p.Ser1368Pro)
c.4738T>C (p.Ser1580Pro)
c.4549T>C (p.Ser1517Pro)
c.2953T>C (p.Ser985Pro)
n.5089T>C
6g.52024997A>TCA364431292PKHD1c.4813T>A (p.Ser1605Thr)
c.4171T>A (p.Ser1391Thr)
c.4102T>A (p.Ser1368Thr)
c.4738T>A (p.Ser1580Thr)
c.4549T>A (p.Ser1517Thr)
c.2953T>A (p.Ser985Thr)
n.5089T>A
6g.52024998C>ACA138946425PKHD1c.4812G>T (p.Thr1604=)
c.4170G>T (p.Thr1390=)
c.4101G>T (p.Thr1367=)
c.4737G>T (p.Thr1579=)
c.4548G>T (p.Thr1516=)
c.2952G>T (p.Thr984=)
n.5088G>T
 dbSNP gnomAD v2 gnomAD v4
6g.52024998C=CA1628647023PKHD1c.4812G= (p.Thr1604=)
c.4170G= (p.Thr1390=)
c.4101G= (p.Thr1367=)
c.4737G= (p.Thr1579=)
c.4548G= (p.Thr1516=)
c.2952G= (p.Thr984=)
n.5088G=
6g.52024998C>GCA450614071PKHD1c.4812G>C (p.Thr1604=)
c.4170G>C (p.Thr1390=)
c.4101G>C (p.Thr1367=)
c.4737G>C (p.Thr1579=)
c.4548G>C (p.Thr1516=)
c.2952G>C (p.Thr984=)
n.5088G>C
6g.52024998C>TCA3852667PKHD1c.4812G>A (p.Thr1604=)
c.4170G>A (p.Thr1390=)
c.4101G>A (p.Thr1367=)
c.4737G>A (p.Thr1579=)
c.4548G>A (p.Thr1516=)
c.2952G>A (p.Thr984=)
n.5088G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.52024999G>ACA364431297PKHD1c.4811C>T (p.Thr1604Met)
c.4169C>T (p.Thr1390Met)
c.4100C>T (p.Thr1367Met)
c.4736C>T (p.Thr1579Met)
c.4547C>T (p.Thr1516Met)
c.2951C>T (p.Thr984Met)
n.5087C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.52024999G>CCA364431298PKHD1c.4811C>G (p.Thr1604Arg)
c.4169C>G (p.Thr1390Arg)
c.4100C>G (p.Thr1367Arg)
c.4736C>G (p.Thr1579Arg)
c.4547C>G (p.Thr1516Arg)
c.2951C>G (p.Thr984Arg)
n.5087C>G
6g.52024999G=CA1628647028PKHD1c.4811C= (p.Thr1604=)
c.4169C= (p.Thr1390=)
c.4100C= (p.Thr1367=)
c.4736C= (p.Thr1579=)
c.4547C= (p.Thr1516=)
c.2951C= (p.Thr984=)
n.5087C=
6g.52024999G>TCA364431300PKHD1c.4811C>A (p.Thr1604Lys)
c.4169C>A (p.Thr1390Lys)
c.4100C>A (p.Thr1367Lys)
c.4736C>A (p.Thr1579Lys)
c.4547C>A (p.Thr1516Lys)
c.2951C>A (p.Thr984Lys)
n.5087C>A
6g.52025000T>ACA364431303PKHD1c.4810A>T (p.Thr1604Ser)
c.4168A>T (p.Thr1390Ser)
c.4099A>T (p.Thr1367Ser)
c.4735A>T (p.Thr1579Ser)
c.4546A>T (p.Thr1516Ser)
c.2950A>T (p.Thr984Ser)
n.5086A>T
6g.52025000T>CCA364431305PKHD1c.4810A>G (p.Thr1604Ala)
c.4168A>G (p.Thr1390Ala)
c.4099A>G (p.Thr1367Ala)
c.4735A>G (p.Thr1579Ala)
c.4546A>G (p.Thr1516Ala)
c.2950A>G (p.Thr984Ala)
n.5086A>G
6g.52025000T>GCA364431306PKHD1c.4810A>C (p.Thr1604Pro)
c.4168A>C (p.Thr1390Pro)
c.4099A>C (p.Thr1367Pro)
c.4735A>C (p.Thr1579Pro)
c.4546A>C (p.Thr1516Pro)
c.2950A>C (p.Thr984Pro)
n.5086A>C
6g.52025001G>ACA450614075PKHD1c.4809C>T (p.Thr1603=)
c.4167C>T (p.Thr1389=)
c.4098C>T (p.Thr1366=)
c.4734C>T (p.Thr1578=)
c.4545C>T (p.Thr1515=)
c.2949C>T (p.Thr983=)
n.5085C>T
6g.52025001G>CCA450614077PKHD1c.4809C>G (p.Thr1603=)
c.4167C>G (p.Thr1389=)
c.4098C>G (p.Thr1366=)
c.4734C>G (p.Thr1578=)
c.4545C>G (p.Thr1515=)
c.2949C>G (p.Thr983=)
n.5085C>G
6g.52025001G>TCA450614076PKHD1c.4809C>A (p.Thr1603=)
c.4167C>A (p.Thr1389=)
c.4098C>A (p.Thr1366=)
c.4734C>A (p.Thr1578=)
c.4545C>A (p.Thr1515=)
c.2949C>A (p.Thr983=)
n.5085C>A
6g.52025002G>ACA364431307PKHD1c.4808C>T (p.Thr1603Ile)
c.4166C>T (p.Thr1389Ile)
c.4097C>T (p.Thr1366Ile)
c.4733C>T (p.Thr1578Ile)
c.4544C>T (p.Thr1515Ile)
c.2948C>T (p.Thr983Ile)
n.5084C>T
 COSMIC COSMIC
6g.52025002G>CCA364431308PKHD1c.4808C>G (p.Thr1603Ser)
c.4166C>G (p.Thr1389Ser)
c.4097C>G (p.Thr1366Ser)
c.4733C>G (p.Thr1578Ser)
c.4544C>G (p.Thr1515Ser)
c.2948C>G (p.Thr983Ser)
n.5084C>G
6g.52025002G>TCA364431309PKHD1c.4808C>A (p.Thr1603Asn)
c.4166C>A (p.Thr1389Asn)
c.4097C>A (p.Thr1366Asn)
c.4733C>A (p.Thr1578Asn)
c.4544C>A (p.Thr1515Asn)
c.2948C>A (p.Thr983Asn)
n.5084C>A
6g.52025003T>ACA364431312PKHD1c.4807A>T (p.Thr1603Ser)
c.4165A>T (p.Thr1389Ser)
c.4096A>T (p.Thr1366Ser)
c.4732A>T (p.Thr1578Ser)
c.4543A>T (p.Thr1515Ser)
c.2947A>T (p.Thr983Ser)
n.5083A>T
6g.52025003T>CCA364431314PKHD1c.4807A>G (p.Thr1603Ala)
c.4165A>G (p.Thr1389Ala)
c.4096A>G (p.Thr1366Ala)
c.4732A>G (p.Thr1578Ala)
c.4543A>G (p.Thr1515Ala)
c.2947A>G (p.Thr983Ala)
n.5083A>G
6g.52025003T>GCA364431318PKHD1c.4807A>C (p.Thr1603Pro)
c.4165A>C (p.Thr1389Pro)
c.4096A>C (p.Thr1366Pro)
c.4732A>C (p.Thr1578Pro)
c.4543A>C (p.Thr1515Pro)
c.2947A>C (p.Thr983Pro)
n.5083A>C
6g.52025004G>ACA450614083PKHD1c.4806C>T (p.Asn1602=)
c.4164C>T (p.Asn1388=)
c.4095C>T (p.Asn1365=)
c.4731C>T (p.Asn1577=)
c.4542C>T (p.Asn1514=)
c.2946C>T (p.Asn982=)
n.5082C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52025004G>CCA364431321PKHD1c.4806C>G (p.Asn1602Lys)
c.4164C>G (p.Asn1388Lys)
c.4095C>G (p.Asn1365Lys)
c.4731C>G (p.Asn1577Lys)
c.4542C>G (p.Asn1514Lys)
c.2946C>G (p.Asn982Lys)
n.5082C>G
6g.52025004G=CA1628647031PKHD1c.4806C= (p.Asn1602=)
c.4164C= (p.Asn1388=)
c.4095C= (p.Asn1365=)
c.4731C= (p.Asn1577=)
c.4542C= (p.Asn1514=)
c.2946C= (p.Asn982=)
n.5082C=
6g.52025004G>TCA364431328PKHD1c.4806C>A (p.Asn1602Lys)
c.4164C>A (p.Asn1388Lys)
c.4095C>A (p.Asn1365Lys)
c.4731C>A (p.Asn1577Lys)
c.4542C>A (p.Asn1514Lys)
c.2946C>A (p.Asn982Lys)
n.5082C>A
6g.52025005T>ACA364431335PKHD1c.4805A>T (p.Asn1602Ile)
c.4163A>T (p.Asn1388Ile)
c.4094A>T (p.Asn1365Ile)
c.4730A>T (p.Asn1577Ile)
c.4541A>T (p.Asn1514Ile)
c.2945A>T (p.Asn982Ile)
n.5081A>T
6g.52025005T>CCA364431334PKHD1c.4805A>G (p.Asn1602Ser)
c.4163A>G (p.Asn1388Ser)
c.4094A>G (p.Asn1365Ser)
c.4730A>G (p.Asn1577Ser)
c.4541A>G (p.Asn1514Ser)
c.2945A>G (p.Asn982Ser)
n.5081A>G
6g.52025005T>GCA364431330PKHD1c.4805A>C (p.Asn1602Thr)
c.4163A>C (p.Asn1388Thr)
c.4094A>C (p.Asn1365Thr)
c.4730A>C (p.Asn1577Thr)
c.4541A>C (p.Asn1514Thr)
c.2945A>C (p.Asn982Thr)
n.5081A>C
6g.52025006T>ACA364431337PKHD1c.4804A>T (p.Asn1602Tyr)
c.4162A>T (p.Asn1388Tyr)
c.4093A>T (p.Asn1365Tyr)
c.4729A>T (p.Asn1577Tyr)
c.4540A>T (p.Asn1514Tyr)
c.2944A>T (p.Asn982Tyr)
n.5080A>T
6g.52025006T>CCA364431340PKHD1c.4804A>G (p.Asn1602Asp)
c.4162A>G (p.Asn1388Asp)
c.4093A>G (p.Asn1365Asp)
c.4729A>G (p.Asn1577Asp)
c.4540A>G (p.Asn1514Asp)
c.2944A>G (p.Asn982Asp)
n.5080A>G
6g.52025006T>GCA364431341PKHD1c.4804A>C (p.Asn1602His)
c.4162A>C (p.Asn1388His)
c.4093A>C (p.Asn1365His)
c.4729A>C (p.Asn1577His)
c.4540A>C (p.Asn1514His)
c.2944A>C (p.Asn982His)
n.5080A>C
 COSMIC COSMIC
6g.52025007C>ACA364431343PKHD1c.4803G>T (p.Gln1601His)
c.4161G>T (p.Gln1387His)
c.4092G>T (p.Gln1364His)
c.4728G>T (p.Gln1576His)
c.4539G>T (p.Gln1513His)
c.2943G>T (p.Gln981His)
n.5079G>T
6g.52025007C>GCA364431344PKHD1c.4803G>C (p.Gln1601His)
c.4161G>C (p.Gln1387His)
c.4092G>C (p.Gln1364His)
c.4728G>C (p.Gln1576His)
c.4539G>C (p.Gln1513His)
c.2943G>C (p.Gln981His)
n.5079G>C
6g.52025007C>TCA450614086PKHD1c.4803G>A (p.Gln1601=)
c.4161G>A (p.Gln1387=)
c.4092G>A (p.Gln1364=)
c.4728G>A (p.Gln1576=)
c.4539G>A (p.Gln1513=)
c.2943G>A (p.Gln981=)
n.5079G>A
6g.52025008T>ACA364431352PKHD1c.4802A>T (p.Gln1601Leu)
c.4160A>T (p.Gln1387Leu)
c.4091A>T (p.Gln1364Leu)
c.4727A>T (p.Gln1576Leu)
c.4538A>T (p.Gln1513Leu)
c.2942A>T (p.Gln981Leu)
n.5078A>T
6g.52025008T>CCA364431350PKHD1c.4802A>G (p.Gln1601Arg)
c.4160A>G (p.Gln1387Arg)
c.4091A>G (p.Gln1364Arg)
c.4727A>G (p.Gln1576Arg)
c.4538A>G (p.Gln1513Arg)
c.2942A>G (p.Gln981Arg)
n.5078A>G
6g.52025008T>GCA364431346PKHD1c.4802A>C (p.Gln1601Pro)
c.4160A>C (p.Gln1387Pro)
c.4091A>C (p.Gln1364Pro)
c.4727A>C (p.Gln1576Pro)
c.4538A>C (p.Gln1513Pro)
c.2942A>C (p.Gln981Pro)
n.5078A>C
6g.52025009G>ACA364431354PKHD1c.4801C>T (p.Gln1601Ter)
c.4159C>T (p.Gln1387Ter)
c.4090C>T (p.Gln1364Ter)
c.4726C>T (p.Gln1576Ter)
c.4537C>T (p.Gln1513Ter)
c.2941C>T (p.Gln981Ter)
n.5077C>T
6g.52025009G>CCA364431355PKHD1c.4801C>G (p.Gln1601Glu)
c.4159C>G (p.Gln1387Glu)
c.4090C>G (p.Gln1364Glu)
c.4726C>G (p.Gln1576Glu)
c.4537C>G (p.Gln1513Glu)
c.2941C>G (p.Gln981Glu)
n.5077C>G
6g.52025009G>TCA364431357PKHD1c.4801C>A (p.Gln1601Lys)
c.4159C>A (p.Gln1387Lys)
c.4090C>A (p.Gln1364Lys)
c.4726C>A (p.Gln1576Lys)
c.4537C>A (p.Gln1513Lys)
c.2941C>A (p.Gln981Lys)
n.5077C>A
6g.52025010T>ACA450614089PKHD1c.4800A>T (p.Gly1600=)
c.4158A>T (p.Gly1386=)
c.4089A>T (p.Gly1363=)
c.4725A>T (p.Gly1575=)
c.4536A>T (p.Gly1512=)
c.2940A>T (p.Gly980=)
n.5076A>T
6g.52025010T>CCA450614091PKHD1c.4800A>G (p.Gly1600=)
c.4158A>G (p.Gly1386=)
c.4089A>G (p.Gly1363=)
c.4725A>G (p.Gly1575=)
c.4536A>G (p.Gly1512=)
c.2940A>G (p.Gly980=)
n.5076A>G
6g.52025010T>GCA450614087PKHD1c.4800A>C (p.Gly1600=)
c.4158A>C (p.Gly1386=)
c.4089A>C (p.Gly1363=)
c.4725A>C (p.Gly1575=)
c.4536A>C (p.Gly1512=)
c.2940A>C (p.Gly980=)
n.5076A>C
6g.52025011C>ACA364431360PKHD1c.4799G>T (p.Gly1600Val)
c.4157G>T (p.Gly1386Val)
c.4088G>T (p.Gly1363Val)
c.4724G>T (p.Gly1575Val)
c.4535G>T (p.Gly1512Val)
c.2939G>T (p.Gly980Val)
n.5075G>T
 COSMIC COSMIC
6g.52025011C>GCA364431362PKHD1c.4799G>C (p.Gly1600Ala)
c.4157G>C (p.Gly1386Ala)
c.4088G>C (p.Gly1363Ala)
c.4724G>C (p.Gly1575Ala)
c.4535G>C (p.Gly1512Ala)
c.2939G>C (p.Gly980Ala)
n.5075G>C
6g.52025011C>TCA364431364PKHD1c.4799G>A (p.Gly1600Glu)
c.4157G>A (p.Gly1386Glu)
c.4088G>A (p.Gly1363Glu)
c.4724G>A (p.Gly1575Glu)
c.4535G>A (p.Gly1512Glu)
c.2939G>A (p.Gly980Glu)
n.5075G>A
 gnomAD v4
6g.52025012C>ACA364431369PKHD1c.4798G>T (p.Gly1600Ter)
c.4156G>T (p.Gly1386Ter)
c.4087G>T (p.Gly1363Ter)
c.4723G>T (p.Gly1575Ter)
c.4534G>T (p.Gly1512Ter)
c.2938G>T (p.Gly980Ter)
n.5074G>T
6g.52025012C>GCA364431366PKHD1c.4798G>C (p.Gly1600Arg)
c.4156G>C (p.Gly1386Arg)
c.4087G>C (p.Gly1363Arg)
c.4723G>C (p.Gly1575Arg)
c.4534G>C (p.Gly1512Arg)
c.2938G>C (p.Gly980Arg)
n.5074G>C
6g.52025012C>TCA364431367PKHD1c.4798G>A (p.Gly1600Arg)
c.4156G>A (p.Gly1386Arg)
c.4087G>A (p.Gly1363Arg)
c.4723G>A (p.Gly1575Arg)
c.4534G>A (p.Gly1512Arg)
c.2938G>A (p.Gly980Arg)
n.5074G>A
 dbSNP
6g.52025013T>ACA364431371PKHD1c.4797A>T (p.Arg1599Ser)
c.4155A>T (p.Arg1385Ser)
c.4086A>T (p.Arg1362Ser)
c.4722A>T (p.Arg1574Ser)
c.4533A>T (p.Arg1511Ser)
c.2937A>T (p.Arg979Ser)
n.5073A>T
6g.52025013T>CCA450614094PKHD1c.4797A>G (p.Arg1599=)
c.4155A>G (p.Arg1385=)
c.4086A>G (p.Arg1362=)
c.4722A>G (p.Arg1574=)
c.4533A>G (p.Arg1511=)
c.2937A>G (p.Arg979=)
n.5073A>G
 ClinVar dbSNP
6g.52025013T>GCA364431373PKHD1c.4797A>C (p.Arg1599Ser)
c.4155A>C (p.Arg1385Ser)
c.4086A>C (p.Arg1362Ser)
c.4722A>C (p.Arg1574Ser)
c.4533A>C (p.Arg1511Ser)
c.2937A>C (p.Arg979Ser)
n.5073A>C
6g.52025014C>ACA3852668PKHD1c.4796G>T (p.Arg1599Ile)
c.4154G>T (p.Arg1385Ile)
c.4085G>T (p.Arg1362Ile)
c.4721G>T (p.Arg1574Ile)
c.4532G>T (p.Arg1511Ile)
c.2936G>T (p.Arg979Ile)
n.5072G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52025014C=CA1628647036PKHD1c.4796G= (p.Arg1599=)
c.4154G= (p.Arg1385=)
c.4085G= (p.Arg1362=)
c.4721G= (p.Arg1574=)
c.4532G= (p.Arg1511=)
c.2936G= (p.Arg979=)
n.5072G=
6g.52025014C>GCA364431375PKHD1c.4796G>C (p.Arg1599Thr)
c.4154G>C (p.Arg1385Thr)
c.4085G>C (p.Arg1362Thr)
c.4721G>C (p.Arg1574Thr)
c.4532G>C (p.Arg1511Thr)
c.2936G>C (p.Arg979Thr)
n.5072G>C
6g.52025014C>TCA364431377PKHD1c.4796G>A (p.Arg1599Lys)
c.4154G>A (p.Arg1385Lys)
c.4085G>A (p.Arg1362Lys)
c.4721G>A (p.Arg1574Lys)
c.4532G>A (p.Arg1511Lys)
c.2936G>A (p.Arg979Lys)
n.5072G>A
 gnomAD v4
6g.52025015T>ACA364431378PKHD1c.4795A>T (p.Arg1599Ter)
c.4153A>T (p.Arg1385Ter)
c.4084A>T (p.Arg1362Ter)
c.4720A>T (p.Arg1574Ter)
c.4531A>T (p.Arg1511Ter)
c.2935A>T (p.Arg979Ter)
n.5071A>T
6g.52025015T>CCA364431384PKHD1c.4795A>G (p.Arg1599Gly)
c.4153A>G (p.Arg1385Gly)
c.4084A>G (p.Arg1362Gly)
c.4720A>G (p.Arg1574Gly)
c.4531A>G (p.Arg1511Gly)
c.2935A>G (p.Arg979Gly)
n.5071A>G
6g.52025015T>GCA450614099PKHD1c.4795A>C (p.Arg1599=)
c.4153A>C (p.Arg1385=)
c.4084A>C (p.Arg1362=)
c.4720A>C (p.Arg1574=)
c.4531A>C (p.Arg1511=)
c.2935A>C (p.Arg979=)
n.5071A>C
6g.52025016C>ACA450614100PKHD1c.4794G>T (p.Leu1598=)
c.4152G>T (p.Leu1384=)
c.4083G>T (p.Leu1361=)
c.4719G>T (p.Leu1573=)
c.4530G>T (p.Leu1510=)
c.2934G>T (p.Leu978=)
n.5070G>T
6g.52025016C>GCA450614101PKHD1c.4794G>C (p.Leu1598=)
c.4152G>C (p.Leu1384=)
c.4083G>C (p.Leu1361=)
c.4719G>C (p.Leu1573=)
c.4530G>C (p.Leu1510=)
c.2934G>C (p.Leu978=)
n.5070G>C
6g.52025016C>TCA450614103PKHD1c.4794G>A (p.Leu1598=)
c.4152G>A (p.Leu1384=)
c.4083G>A (p.Leu1361=)
c.4719G>A (p.Leu1573=)
c.4530G>A (p.Leu1510=)
c.2934G>A (p.Leu978=)
n.5070G>A
 ClinVar dbSNP
6g.52025017A>CCA364431389PKHD1c.4793T>G (p.Leu1598Arg)
c.4151T>G (p.Leu1384Arg)
c.4082T>G (p.Leu1361Arg)
c.4718T>G (p.Leu1573Arg)
c.4529T>G (p.Leu1510Arg)
c.2933T>G (p.Leu978Arg)
n.5069T>G
6g.52025017A>GCA364431390PKHD1c.4793T>C (p.Leu1598Pro)
c.4151T>C (p.Leu1384Pro)
c.4082T>C (p.Leu1361Pro)
c.4718T>C (p.Leu1573Pro)
c.4529T>C (p.Leu1510Pro)
c.2933T>C (p.Leu978Pro)
n.5069T>C
6g.52025017A>TCA364431392PKHD1c.4793T>A (p.Leu1598Gln)
c.4151T>A (p.Leu1384Gln)
c.4082T>A (p.Leu1361Gln)
c.4718T>A (p.Leu1573Gln)
c.4529T>A (p.Leu1510Gln)
c.2933T>A (p.Leu978Gln)
n.5069T>A
6g.52025018G>ACA450614106PKHD1c.4792C>T (p.Leu1598=)
c.4150C>T (p.Leu1384=)
c.4081C>T (p.Leu1361=)
c.4717C>T (p.Leu1573=)
c.4528C>T (p.Leu1510=)
c.2932C>T (p.Leu978=)
n.5068C>T
 gnomAD v4
6g.52025018G>CCA364431393PKHD1c.4792C>G (p.Leu1598Val)
c.4150C>G (p.Leu1384Val)
c.4081C>G (p.Leu1361Val)
c.4717C>G (p.Leu1573Val)
c.4528C>G (p.Leu1510Val)
c.2932C>G (p.Leu978Val)
n.5068C>G
 ClinVar dbSNP
6g.52025018G=CA1628647041PKHD1c.4792C= (p.Leu1598=)
c.4150C= (p.Leu1384=)
c.4081C= (p.Leu1361=)
c.4717C= (p.Leu1573=)
c.4528C= (p.Leu1510=)
c.2932C= (p.Leu978=)
n.5068C=
6g.52025018G>TCA364431394PKHD1c.4792C>A (p.Leu1598Met)
c.4150C>A (p.Leu1384Met)
c.4081C>A (p.Leu1361Met)
c.4717C>A (p.Leu1573Met)
c.4528C>A (p.Leu1510Met)
c.2932C>A (p.Leu978Met)
n.5068C>A
6g.52025019G>ACA450614108PKHD1c.4791C>T (p.Gly1597=)
c.4149C>T (p.Gly1383=)
c.4080C>T (p.Gly1360=)
c.4716C>T (p.Gly1572=)
c.4527C>T (p.Gly1509=)
c.2931C>T (p.Gly977=)
n.5067C>T
 gnomAD v4
6g.52025019G>CCA450614110PKHD1c.4791C>G (p.Gly1597=)
c.4149C>G (p.Gly1383=)
c.4080C>G (p.Gly1360=)
c.4716C>G (p.Gly1572=)
c.4527C>G (p.Gly1509=)
c.2931C>G (p.Gly977=)
n.5067C>G
 dbSNP gnomAD v3 gnomAD v4
6g.52025019G=CA1628647043PKHD1c.4791C= (p.Gly1597=)
c.4149C= (p.Gly1383=)
c.4080C= (p.Gly1360=)
c.4716C= (p.Gly1572=)
c.4527C= (p.Gly1509=)
c.2931C= (p.Gly977=)
n.5067C=
6g.52025019G>TCA450614112PKHD1c.4791C>A (p.Gly1597=)
c.4149C>A (p.Gly1383=)
c.4080C>A (p.Gly1360=)
c.4716C>A (p.Gly1572=)
c.4527C>A (p.Gly1509=)
c.2931C>A (p.Gly977=)
n.5067C>A
6g.52025020C>ACA364431398PKHD1c.4790G>T (p.Gly1597Val)
c.4148G>T (p.Gly1383Val)
c.4079G>T (p.Gly1360Val)
c.4715G>T (p.Gly1572Val)
c.4526G>T (p.Gly1509Val)
c.2930G>T (p.Gly977Val)
n.5066G>T
6g.52025020C=CA1628647045PKHD1c.4790G= (p.Gly1597=)
c.4148G= (p.Gly1383=)
c.4079G= (p.Gly1360=)
c.4715G= (p.Gly1572=)
c.4526G= (p.Gly1509=)
c.2930G= (p.Gly977=)
n.5066G=
6g.52025020C>GCA364431395PKHD1c.4790G>C (p.Gly1597Ala)
c.4148G>C (p.Gly1383Ala)
c.4079G>C (p.Gly1360Ala)
c.4715G>C (p.Gly1572Ala)
c.4526G>C (p.Gly1509Ala)
c.2930G>C (p.Gly977Ala)
n.5066G>C
6g.52025020C>TCA364431396PKHD1c.4790G>A (p.Gly1597Asp)
c.4148G>A (p.Gly1383Asp)
c.4079G>A (p.Gly1360Asp)
c.4715G>A (p.Gly1572Asp)
c.4526G>A (p.Gly1509Asp)
c.2930G>A (p.Gly977Asp)
n.5066G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52025021C>ACA364431400PKHD1c.4789G>T (p.Gly1597Cys)
c.4147G>T (p.Gly1383Cys)
c.4078G>T (p.Gly1360Cys)
c.4714G>T (p.Gly1572Cys)
c.4525G>T (p.Gly1509Cys)
c.2929G>T (p.Gly977Cys)
n.5065G>T
 COSMIC COSMIC
6g.52025021C=CA1628647048PKHD1c.4789G= (p.Gly1597=)
c.4147G= (p.Gly1383=)
c.4078G= (p.Gly1360=)
c.4714G= (p.Gly1572=)
c.4525G= (p.Gly1509=)
c.2929G= (p.Gly977=)
n.5065G=
6g.52025021C>GCA364431401PKHD1c.4789G>C (p.Gly1597Arg)
c.4147G>C (p.Gly1383Arg)
c.4078G>C (p.Gly1360Arg)
c.4714G>C (p.Gly1572Arg)
c.4525G>C (p.Gly1509Arg)
c.2929G>C (p.Gly977Arg)
n.5065G>C
 gnomAD v4
6g.52025021C>TCA364431402PKHD1c.4789G>A (p.Gly1597Ser)
c.4147G>A (p.Gly1383Ser)
c.4078G>A (p.Gly1360Ser)
c.4714G>A (p.Gly1572Ser)
c.4525G>A (p.Gly1509Ser)
c.2929G>A (p.Gly977Ser)
n.5065G>A
 dbSNP gnomAD v3 gnomAD v4
6g.52025022T>ACA450614115PKHD1c.4788A>T (p.Thr1596=)
c.4146A>T (p.Thr1382=)
c.4077A>T (p.Thr1359=)
c.4713A>T (p.Thr1571=)
c.4524A>T (p.Thr1508=)
c.2928A>T (p.Thr976=)
n.5064A>T
6g.52025022T>CCA450614119PKHD1c.4788A>G (p.Thr1596=)
c.4146A>G (p.Thr1382=)
c.4077A>G (p.Thr1359=)
c.4713A>G (p.Thr1571=)
c.4524A>G (p.Thr1508=)
c.2928A>G (p.Thr976=)
n.5064A>G
6g.52025022T>GCA450614117PKHD1c.4788A>C (p.Thr1596=)
c.4146A>C (p.Thr1382=)
c.4077A>C (p.Thr1359=)
c.4713A>C (p.Thr1571=)
c.4524A>C (p.Thr1508=)
c.2928A>C (p.Thr976=)
n.5064A>C
6g.52025023G>ACA364431403PKHD1c.4787C>T (p.Thr1596Ile)
c.4145C>T (p.Thr1382Ile)
c.4076C>T (p.Thr1359Ile)
c.4712C>T (p.Thr1571Ile)
c.4523C>T (p.Thr1508Ile)
c.2927C>T (p.Thr976Ile)
n.5063C>T
6g.52025023G>CCA364431404PKHD1c.4787C>G (p.Thr1596Arg)
c.4145C>G (p.Thr1382Arg)
c.4076C>G (p.Thr1359Arg)
c.4712C>G (p.Thr1571Arg)
c.4523C>G (p.Thr1508Arg)
c.2927C>G (p.Thr976Arg)
n.5063C>G
 dbSNP gnomAD v4
6g.52025023G=CA1628647053PKHD1c.4787C= (p.Thr1596=)
c.4145C= (p.Thr1382=)
c.4076C= (p.Thr1359=)
c.4712C= (p.Thr1571=)
c.4523C= (p.Thr1508=)
c.2927C= (p.Thr976=)
n.5063C=
6g.52025023G>TCA364431405PKHD1c.4787C>A (p.Thr1596Lys)
c.4145C>A (p.Thr1382Lys)
c.4076C>A (p.Thr1359Lys)
c.4712C>A (p.Thr1571Lys)
c.4523C>A (p.Thr1508Lys)
c.2927C>A (p.Thr976Lys)
n.5063C>A
6g.52025024T>ACA364431407PKHD1c.4786A>T (p.Thr1596Ser)
c.4144A>T (p.Thr1382Ser)
c.4075A>T (p.Thr1359Ser)
c.4711A>T (p.Thr1571Ser)
c.4522A>T (p.Thr1508Ser)
c.2926A>T (p.Thr976Ser)
n.5062A>T
6g.52025024T>CCA364431409PKHD1c.4786A>G (p.Thr1596Ala)
c.4144A>G (p.Thr1382Ala)
c.4075A>G (p.Thr1359Ala)
c.4711A>G (p.Thr1571Ala)
c.4522A>G (p.Thr1508Ala)
c.2926A>G (p.Thr976Ala)
n.5062A>G
 dbSNP gnomAD v2 gnomAD v4
6g.52025024T>GCA364431410PKHD1c.4786A>C (p.Thr1596Pro)
c.4144A>C (p.Thr1382Pro)
c.4075A>C (p.Thr1359Pro)
c.4711A>C (p.Thr1571Pro)
c.4522A>C (p.Thr1508Pro)
c.2926A>C (p.Thr976Pro)
n.5062A>C
6g.52025024T=CA1628647057PKHD1c.4786A= (p.Thr1596=)
c.4144A= (p.Thr1382=)
c.4075A= (p.Thr1359=)
c.4711A= (p.Thr1571=)
c.4522A= (p.Thr1508=)
c.2926A= (p.Thr976=)
n.5062A=
6g.52025025G>ACA3852669PKHD1c.4785C>T (p.Gly1595=)
c.4143C>T (p.Gly1381=)
c.4074C>T (p.Gly1358=)
c.4710C>T (p.Gly1570=)
c.4521C>T (p.Gly1507=)
c.2925C>T (p.Gly975=)
n.5061C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52025025G>CCA450614130PKHD1c.4785C>G (p.Gly1595=)
c.4143C>G (p.Gly1381=)
c.4074C>G (p.Gly1358=)
c.4710C>G (p.Gly1570=)
c.4521C>G (p.Gly1507=)
c.2925C>G (p.Gly975=)
n.5061C>G
6g.52025025G=CA1628647061PKHD1c.4785C= (p.Gly1595=)
c.4143C= (p.Gly1381=)
c.4074C= (p.Gly1358=)
c.4710C= (p.Gly1570=)
c.4521C= (p.Gly1507=)
c.2925C= (p.Gly975=)
n.5061C=
6g.52025025G>TCA450614131PKHD1c.4785C>A (p.Gly1595=)
c.4143C>A (p.Gly1381=)
c.4074C>A (p.Gly1358=)
c.4710C>A (p.Gly1570=)
c.4521C>A (p.Gly1507=)
c.2925C>A (p.Gly975=)
n.5061C>A
6g.52025026C>ACA364431412PKHD1c.4784G>T (p.Gly1595Val)
c.4142G>T (p.Gly1381Val)
c.4073G>T (p.Gly1358Val)
c.4709G>T (p.Gly1570Val)
c.4520G>T (p.Gly1507Val)
c.2924G>T (p.Gly975Val)
n.5060G>T
6g.52025026C=CA1628647064PKHD1c.4784G= (p.Gly1595=)
c.4142G= (p.Gly1381=)
c.4073G= (p.Gly1358=)
c.4709G= (p.Gly1570=)
c.4520G= (p.Gly1507=)
c.2924G= (p.Gly975=)
n.5060G=
6g.52025026C>GCA364431413PKHD1c.4784G>C (p.Gly1595Ala)
c.4142G>C (p.Gly1381Ala)
c.4073G>C (p.Gly1358Ala)
c.4709G>C (p.Gly1570Ala)
c.4520G>C (p.Gly1507Ala)
c.2924G>C (p.Gly975Ala)
n.5060G>C
6g.52025026C>TCA364431414PKHD1c.4784G>A (p.Gly1595Asp)
c.4142G>A (p.Gly1381Asp)
c.4073G>A (p.Gly1358Asp)
c.4709G>A (p.Gly1570Asp)
c.4520G>A (p.Gly1507Asp)
c.2924G>A (p.Gly975Asp)
n.5060G>A
 dbSNP gnomAD v4
6g.52025027C>ACA364431418PKHD1c.4783G>T (p.Gly1595Cys)
c.4141G>T (p.Gly1381Cys)
c.4072G>T (p.Gly1358Cys)
c.4708G>T (p.Gly1570Cys)
c.4519G>T (p.Gly1507Cys)
c.2923G>T (p.Gly975Cys)
n.5059G>T
6g.52025027C>GCA364431415PKHD1c.4783G>C (p.Gly1595Arg)
c.4141G>C (p.Gly1381Arg)
c.4072G>C (p.Gly1358Arg)
c.4708G>C (p.Gly1570Arg)
c.4519G>C (p.Gly1507Arg)
c.2923G>C (p.Gly975Arg)
n.5059G>C
6g.52025027C>TCA364431417PKHD1c.4783G>A (p.Gly1595Ser)
c.4141G>A (p.Gly1381Ser)
c.4072G>A (p.Gly1358Ser)
c.4708G>A (p.Gly1570Ser)
c.4519G>A (p.Gly1507Ser)
c.2923G>A (p.Gly975Ser)
n.5059G>A
6g.52025028C>ACA364431419PKHD1c.4782G>T (p.Glu1594Asp)
c.4140G>T (p.Glu1380Asp)
c.4071G>T (p.Glu1357Asp)
c.4707G>T (p.Glu1569Asp)
c.4518G>T (p.Glu1506Asp)
c.2922G>T (p.Glu974Asp)
n.5058G>T
6g.52025028C>GCA364431422PKHD1c.4782G>C (p.Glu1594Asp)
c.4140G>C (p.Glu1380Asp)
c.4071G>C (p.Glu1357Asp)
c.4707G>C (p.Glu1569Asp)
c.4518G>C (p.Glu1506Asp)
c.2922G>C (p.Glu974Asp)
n.5058G>C
6g.52025028C>TCA450614137PKHD1c.4782G>A (p.Glu1594=)
c.4140G>A (p.Glu1380=)
c.4071G>A (p.Glu1357=)
c.4707G>A (p.Glu1569=)
c.4518G>A (p.Glu1506=)
c.2922G>A (p.Glu974=)
n.5058G>A
6g.52025029T>ACA364431423PKHD1c.4781A>T (p.Glu1594Val)
c.4139A>T (p.Glu1380Val)
c.4070A>T (p.Glu1357Val)
c.4706A>T (p.Glu1569Val)
c.4517A>T (p.Glu1506Val)
c.2921A>T (p.Glu974Val)
n.5057A>T
 dbSNP gnomAD v2 gnomAD v4
6g.52025029T>CCA364431424PKHD1c.4781A>G (p.Glu1594Gly)
c.4139A>G (p.Glu1380Gly)
c.4070A>G (p.Glu1357Gly)
c.4706A>G (p.Glu1569Gly)
c.4517A>G (p.Glu1506Gly)
c.2921A>G (p.Glu974Gly)
n.5057A>G
6g.52025029T>GCA364431427PKHD1c.4781A>C (p.Glu1594Ala)
c.4139A>C (p.Glu1380Ala)
c.4070A>C (p.Glu1357Ala)
c.4706A>C (p.Glu1569Ala)
c.4517A>C (p.Glu1506Ala)
c.2921A>C (p.Glu974Ala)
n.5057A>C
6g.52025029T=CA1628647067PKHD1c.4781A= (p.Glu1594=)
c.4139A= (p.Glu1380=)
c.4070A= (p.Glu1357=)
c.4706A= (p.Glu1569=)
c.4517A= (p.Glu1506=)
c.2921A= (p.Glu974=)
n.5057A=
6g.52025030C>ACA364431430PKHD1c.4780G>T (p.Glu1594Ter)
c.4138G>T (p.Glu1380Ter)
c.4069G>T (p.Glu1357Ter)
c.4705G>T (p.Glu1569Ter)
c.4516G>T (p.Glu1506Ter)
c.2920G>T (p.Glu974Ter)
n.5056G>T
6g.52025030C=CA1628647070PKHD1c.4780G= (p.Glu1594=)
c.4138G= (p.Glu1380=)
c.4069G= (p.Glu1357=)
c.4705G= (p.Glu1569=)
c.4516G= (p.Glu1506=)
c.2920G= (p.Glu974=)
n.5056G=
6g.52025030C>GCA3852670PKHD1c.4780G>C (p.Glu1594Gln)
c.4138G>C (p.Glu1380Gln)
c.4069G>C (p.Glu1357Gln)
c.4705G>C (p.Glu1569Gln)
c.4516G>C (p.Glu1506Gln)
c.2920G>C (p.Glu974Gln)
n.5056G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52025030C>TCA364431434PKHD1c.4780G>A (p.Glu1594Lys)
c.4138G>A (p.Glu1380Lys)
c.4069G>A (p.Glu1357Lys)
c.4705G>A (p.Glu1569Lys)
c.4516G>A (p.Glu1506Lys)
c.2920G>A (p.Glu974Lys)
n.5056G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.52025031T>ACA450614142PKHD1c.4779A>T (p.Ile1593=)
c.4137A>T (p.Ile1379=)
c.4068A>T (p.Ile1356=)
c.4704A>T (p.Ile1568=)
c.4515A>T (p.Ile1505=)
c.2919A>T (p.Ile973=)
n.5055A>T
6g.52025031T>CCA364431436PKHD1c.4779A>G (p.Ile1593Met)
c.4137A>G (p.Ile1379Met)
c.4068A>G (p.Ile1356Met)
c.4704A>G (p.Ile1568Met)
c.4515A>G (p.Ile1505Met)
c.2919A>G (p.Ile973Met)
n.5055A>G
6g.52025031T>GCA450614140PKHD1c.4779A>C (p.Ile1593=)
c.4137A>C (p.Ile1379=)
c.4068A>C (p.Ile1356=)
c.4704A>C (p.Ile1568=)
c.4515A>C (p.Ile1505=)
c.2919A>C (p.Ile973=)
n.5055A>C
6g.52025032_52025033delCA2573140963PKHD1c.4778_4779del (p.Ile1593ArgfsTer16)
c.4136_4137del (p.Ile1379ArgfsTer16)
c.4067_4068del (p.Ile1356ArgfsTer16)
c.4703_4704del (p.Ile1568ArgfsTer16)
c.4514_4515del (p.Ile1505ArgfsTer16)
c.2918_2919del (p.Ile973ArgfsTer16)
n.5054_5055del
 ClinVar dbSNP
6g.52025032A=CA1628647074PKHD1c.4778T= (p.Ile1593=)
c.4136T= (p.Ile1379=)
c.4067T= (p.Ile1356=)
c.4703T= (p.Ile1568=)
c.4514T= (p.Ile1505=)
c.2918T= (p.Ile973=)
n.5054T=
6g.52025032A>CCA364431437PKHD1c.4778T>G (p.Ile1593Arg)
c.4136T>G (p.Ile1379Arg)
c.4067T>G (p.Ile1356Arg)
c.4703T>G (p.Ile1568Arg)
c.4514T>G (p.Ile1505Arg)
c.2918T>G (p.Ile973Arg)
n.5054T>G
6g.52025032A>GCA364431438PKHD1c.4778T>C (p.Ile1593Thr)
c.4136T>C (p.Ile1379Thr)
c.4067T>C (p.Ile1356Thr)
c.4703T>C (p.Ile1568Thr)
c.4514T>C (p.Ile1505Thr)
c.2918T>C (p.Ile973Thr)
n.5054T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52025032A>TCA364431440PKHD1c.4778T>A (p.Ile1593Lys)
c.4136T>A (p.Ile1379Lys)
c.4067T>A (p.Ile1356Lys)
c.4703T>A (p.Ile1568Lys)
c.4514T>A (p.Ile1505Lys)
c.2918T>A (p.Ile973Lys)
n.5054T>A
6g.52025033T>ACA364431442PKHD1c.4777A>T (p.Ile1593Leu)
c.4135A>T (p.Ile1379Leu)
c.4066A>T (p.Ile1356Leu)
c.4702A>T (p.Ile1568Leu)
c.4513A>T (p.Ile1505Leu)
c.2917A>T (p.Ile973Leu)
n.5053A>T
6g.52025033T>CCA364431446PKHD1c.4777A>G (p.Ile1593Val)
c.4135A>G (p.Ile1379Val)
c.4066A>G (p.Ile1356Val)
c.4702A>G (p.Ile1568Val)
c.4513A>G (p.Ile1505Val)
c.2917A>G (p.Ile973Val)
n.5053A>G
 gnomAD v4
6g.52025033T>GCA364431444PKHD1c.4777A>C (p.Ile1593Leu)
c.4135A>C (p.Ile1379Leu)
c.4066A>C (p.Ile1356Leu)
c.4702A>C (p.Ile1568Leu)
c.4513A>C (p.Ile1505Leu)
c.2917A>C (p.Ile973Leu)
n.5053A>C
6g.52025034G>ACA450614150PKHD1c.4776C>T (p.Thr1592=)
c.4134C>T (p.Thr1378=)
c.4065C>T (p.Thr1355=)
c.4701C>T (p.Thr1567=)
c.4512C>T (p.Thr1504=)
c.2916C>T (p.Thr972=)
n.5052C>T
 dbSNP
6g.52025034G>CCA450614151PKHD1c.4776C>G (p.Thr1592=)
c.4134C>G (p.Thr1378=)
c.4065C>G (p.Thr1355=)
c.4701C>G (p.Thr1567=)
c.4512C>G (p.Thr1504=)
c.2916C>G (p.Thr972=)
n.5052C>G
6g.52025034G=CA1628647078PKHD1c.4776C= (p.Thr1592=)
c.4134C= (p.Thr1378=)
c.4065C= (p.Thr1355=)
c.4701C= (p.Thr1567=)
c.4512C= (p.Thr1504=)
c.2916C= (p.Thr972=)
n.5052C=
6g.52025034G>TCA450614152PKHD1c.4776C>A (p.Thr1592=)
c.4134C>A (p.Thr1378=)
c.4065C>A (p.Thr1355=)
c.4701C>A (p.Thr1567=)
c.4512C>A (p.Thr1504=)
c.2916C>A (p.Thr972=)
n.5052C>A
6g.52025035G>ACA364431451PKHD1c.4775C>T (p.Thr1592Ile)
c.4133C>T (p.Thr1378Ile)
c.4064C>T (p.Thr1355Ile)
c.4700C>T (p.Thr1567Ile)
c.4511C>T (p.Thr1504Ile)
c.2915C>T (p.Thr972Ile)
n.5051C>T
6g.52025035G>CCA364431457PKHD1c.4775C>G (p.Thr1592Ser)
c.4133C>G (p.Thr1378Ser)
c.4064C>G (p.Thr1355Ser)
c.4700C>G (p.Thr1567Ser)
c.4511C>G (p.Thr1504Ser)
c.2915C>G (p.Thr972Ser)
n.5051C>G
6g.52025035G>TCA364431454PKHD1c.4775C>A (p.Thr1592Asn)
c.4133C>A (p.Thr1378Asn)
c.4064C>A (p.Thr1355Asn)
c.4700C>A (p.Thr1567Asn)
c.4511C>A (p.Thr1504Asn)
c.2915C>A (p.Thr972Asn)
n.5051C>A
 gnomAD v4
6g.52025036T>ACA364431460PKHD1c.4774A>T (p.Thr1592Ser)
c.4132A>T (p.Thr1378Ser)
c.4063A>T (p.Thr1355Ser)
c.4699A>T (p.Thr1567Ser)
c.4510A>T (p.Thr1504Ser)
c.2914A>T (p.Thr972Ser)
n.5050A>T
6g.52025036T>CCA364431462PKHD1c.4774A>G (p.Thr1592Ala)
c.4132A>G (p.Thr1378Ala)
c.4063A>G (p.Thr1355Ala)
c.4699A>G (p.Thr1567Ala)
c.4510A>G (p.Thr1504Ala)
c.2914A>G (p.Thr972Ala)
n.5050A>G
 gnomAD v4
6g.52025036T>GCA364431461PKHD1c.4774A>C (p.Thr1592Pro)
c.4132A>C (p.Thr1378Pro)
c.4063A>C (p.Thr1355Pro)
c.4699A>C (p.Thr1567Pro)
c.4510A>C (p.Thr1504Pro)
c.2914A>C (p.Thr972Pro)
n.5050A>C
6g.52025037C>ACA364431463PKHD1c.4773G>T (p.Leu1591Phe)
c.4131G>T (p.Leu1377Phe)
c.4062G>T (p.Leu1354Phe)
c.4698G>T (p.Leu1566Phe)
c.4509G>T (p.Leu1503Phe)
c.2913G>T (p.Leu971Phe)
n.5049G>T
6g.52025037C>GCA364431465PKHD1c.4773G>C (p.Leu1591Phe)
c.4131G>C (p.Leu1377Phe)
c.4062G>C (p.Leu1354Phe)
c.4698G>C (p.Leu1566Phe)
c.4509G>C (p.Leu1503Phe)
c.2913G>C (p.Leu971Phe)
n.5049G>C
6g.52025037C>TCA450614118PKHD1c.4773G>A (p.Leu1591=)
c.4131G>A (p.Leu1377=)
c.4062G>A (p.Leu1354=)
c.4698G>A (p.Leu1566=)
c.4509G>A (p.Leu1503=)
c.2913G>A (p.Leu971=)
n.5049G>A
6g.52025038A>CCA364431467PKHD1c.4772T>G (p.Leu1591Trp)
c.4130T>G (p.Leu1377Trp)
c.4061T>G (p.Leu1354Trp)
c.4697T>G (p.Leu1566Trp)
c.4508T>G (p.Leu1503Trp)
c.2912T>G (p.Leu971Trp)
n.5048T>G
6g.52025038A>GCA364431468PKHD1c.4772T>C (p.Leu1591Ser)
c.4130T>C (p.Leu1377Ser)
c.4061T>C (p.Leu1354Ser)
c.4697T>C (p.Leu1566Ser)
c.4508T>C (p.Leu1503Ser)
c.2912T>C (p.Leu971Ser)
n.5048T>C
6g.52025038A>TCA364431469PKHD1c.4772T>A (p.Leu1591Ter)
c.4130T>A (p.Leu1377Ter)
c.4061T>A (p.Leu1354Ter)
c.4697T>A (p.Leu1566Ter)
c.4508T>A (p.Leu1503Ter)
c.2912T>A (p.Leu971Ter)
n.5048T>A
6g.52025039A>CCA364431471PKHD1c.4771T>G (p.Leu1591Val)
c.4129T>G (p.Leu1377Val)
c.4060T>G (p.Leu1354Val)
c.4696T>G (p.Leu1566Val)
c.4507T>G (p.Leu1503Val)
c.2911T>G (p.Leu971Val)
n.5047T>G
6g.52025039A>GCA450614123PKHD1c.4771T>C (p.Leu1591=)
c.4129T>C (p.Leu1377=)
c.4060T>C (p.Leu1354=)
c.4696T>C (p.Leu1566=)
c.4507T>C (p.Leu1503=)
c.2911T>C (p.Leu971=)
n.5047T>C
6g.52025039A>TCA364431472PKHD1c.4771T>A (p.Leu1591Met)
c.4129T>A (p.Leu1377Met)
c.4060T>A (p.Leu1354Met)
c.4696T>A (p.Leu1566Met)
c.4507T>A (p.Leu1503Met)
c.2911T>A (p.Leu971Met)
n.5047T>A
6g.52025040G>ACA3852671PKHD1c.4770C>T (p.Leu1590=)
c.4128C>T (p.Leu1376=)
c.4059C>T (p.Leu1353=)
c.4695C>T (p.Leu1565=)
c.4506C>T (p.Leu1502=)
c.2910C>T (p.Leu970=)
n.5046C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52025040G>CCA450614127PKHD1c.4770C>G (p.Leu1590=)
c.4128C>G (p.Leu1376=)
c.4059C>G (p.Leu1353=)
c.4695C>G (p.Leu1565=)
c.4506C>G (p.Leu1502=)
c.2910C>G (p.Leu970=)
n.5046C>G
 dbSNP gnomAD v3 gnomAD v4
6g.52025040G=CA1628647081PKHD1c.4770C= (p.Leu1590=)
c.4128C= (p.Leu1376=)
c.4059C= (p.Leu1353=)
c.4695C= (p.Leu1565=)
c.4506C= (p.Leu1502=)
c.2910C= (p.Leu970=)
n.5046C=
6g.52025040G>TCA450614128PKHD1c.4770C>A (p.Leu1590=)
c.4128C>A (p.Leu1376=)
c.4059C>A (p.Leu1353=)
c.4695C>A (p.Leu1565=)
c.4506C>A (p.Leu1502=)
c.2910C>A (p.Leu970=)
n.5046C>A
6g.52025041A>CCA364431475PKHD1c.4769T>G (p.Leu1590Arg)
c.4127T>G (p.Leu1376Arg)
c.4058T>G (p.Leu1353Arg)
c.4694T>G (p.Leu1565Arg)
c.4505T>G (p.Leu1502Arg)
c.2909T>G (p.Leu970Arg)
n.5045T>G
6g.52025041A>GCA364431476PKHD1c.4769T>C (p.Leu1590Pro)
c.4127T>C (p.Leu1376Pro)
c.4058T>C (p.Leu1353Pro)
c.4694T>C (p.Leu1565Pro)
c.4505T>C (p.Leu1502Pro)
c.2909T>C (p.Leu970Pro)
n.5045T>C
6g.52025041A>TCA364431477PKHD1c.4769T>A (p.Leu1590His)
c.4127T>A (p.Leu1376His)
c.4058T>A (p.Leu1353His)
c.4694T>A (p.Leu1565His)
c.4505T>A (p.Leu1502His)
c.2909T>A (p.Leu970His)
n.5045T>A
6g.52025042G>ACA3852672PKHD1c.4768C>T (p.Leu1590Phe)
c.4126C>T (p.Leu1376Phe)
c.4057C>T (p.Leu1353Phe)
c.4693C>T (p.Leu1565Phe)
c.4504C>T (p.Leu1502Phe)
c.2908C>T (p.Leu970Phe)
n.5044C>T
 dbSNP ExAC gnomAD v3 gnomAD v4
6g.52025042G>CCA364431479PKHD1c.4768C>G (p.Leu1590Val)
c.4126C>G (p.Leu1376Val)
c.4057C>G (p.Leu1353Val)
c.4693C>G (p.Leu1565Val)
c.4504C>G (p.Leu1502Val)
c.2908C>G (p.Leu970Val)
n.5044C>G
6g.52025042G=CA1628647084PKHD1c.4768C= (p.Leu1590=)
c.4126C= (p.Leu1376=)
c.4057C= (p.Leu1353=)
c.4693C= (p.Leu1565=)
c.4504C= (p.Leu1502=)
c.2908C= (p.Leu970=)
n.5044C=
6g.52025042G>TCA364431478PKHD1c.4768C>A (p.Leu1590Ile)
c.4126C>A (p.Leu1376Ile)
c.4057C>A (p.Leu1353Ile)
c.4693C>A (p.Leu1565Ile)
c.4504C>A (p.Leu1502Ile)
c.2908C>A (p.Leu970Ile)
n.5044C>A
 COSMIC COSMIC
6g.52025043G>ACA450614129PKHD1c.4767C>T (p.Ser1589=)
c.4125C>T (p.Ser1375=)
c.4056C>T (p.Ser1352=)
c.4692C>T (p.Ser1564=)
c.4503C>T (p.Ser1501=)
c.2907C>T (p.Ser969=)
n.5043C>T
6g.52025043G>CCA364431481PKHD1c.4767C>G (p.Ser1589Arg)
c.4125C>G (p.Ser1375Arg)
c.4056C>G (p.Ser1352Arg)
c.4692C>G (p.Ser1564Arg)
c.4503C>G (p.Ser1501Arg)
c.2907C>G (p.Ser969Arg)
n.5043C>G
6g.52025043G=CA1628647087PKHD1c.4767C= (p.Ser1589=)
c.4125C= (p.Ser1375=)
c.4056C= (p.Ser1352=)
c.4692C= (p.Ser1564=)
c.4503C= (p.Ser1501=)
c.2907C= (p.Ser969=)
n.5043C=
6g.52025043G>TCA364431483PKHD1c.4767C>A (p.Ser1589Arg)
c.4125C>A (p.Ser1375Arg)
c.4056C>A (p.Ser1352Arg)
c.4692C>A (p.Ser1564Arg)
c.4503C>A (p.Ser1501Arg)
c.2907C>A (p.Ser969Arg)
n.5043C>A
 dbSNP gnomAD v2 gnomAD v4
6g.52025044C>ACA364431485PKHD1c.4766G>T (p.Ser1589Ile)
c.4124G>T (p.Ser1375Ile)
c.4055G>T (p.Ser1352Ile)
c.4691G>T (p.Ser1564Ile)
c.4502G>T (p.Ser1501Ile)
c.2906G>T (p.Ser969Ile)
n.5042G>T
6g.52025044C=CA1628647090PKHD1c.4766G= (p.Ser1589=)
c.4124G= (p.Ser1375=)
c.4055G= (p.Ser1352=)
c.4691G= (p.Ser1564=)
c.4502G= (p.Ser1501=)
c.2906G= (p.Ser969=)
n.5042G=
6g.52025044C>GCA364431486PKHD1c.4766G>C (p.Ser1589Thr)
c.4124G>C (p.Ser1375Thr)
c.4055G>C (p.Ser1352Thr)
c.4691G>C (p.Ser1564Thr)
c.4502G>C (p.Ser1501Thr)
c.2906G>C (p.Ser969Thr)
n.5042G>C
6g.52025044C>TCA3852673PKHD1c.4766G>A (p.Ser1589Asn)
c.4124G>A (p.Ser1375Asn)
c.4055G>A (p.Ser1352Asn)
c.4691G>A (p.Ser1564Asn)
c.4502G>A (p.Ser1501Asn)
c.2906G>A (p.Ser969Asn)
n.5042G>A
 dbSNP ExAC gnomAD v2
6g.52025045T>ACA364431489PKHD1c.4765A>T (p.Ser1589Cys)
c.4123A>T (p.Ser1375Cys)
c.4054A>T (p.Ser1352Cys)
c.4690A>T (p.Ser1564Cys)
c.4501A>T (p.Ser1501Cys)
c.2905A>T (p.Ser969Cys)
n.5041A>T
6g.52025045T>CCA364431492PKHD1c.4765A>G (p.Ser1589Gly)
c.4123A>G (p.Ser1375Gly)
c.4054A>G (p.Ser1352Gly)
c.4690A>G (p.Ser1564Gly)
c.4501A>G (p.Ser1501Gly)
c.2905A>G (p.Ser969Gly)
n.5041A>G
6g.52025045T>GCA364431494PKHD1c.4765A>C (p.Ser1589Arg)
c.4123A>C (p.Ser1375Arg)
c.4054A>C (p.Ser1352Arg)
c.4690A>C (p.Ser1564Arg)
c.4501A>C (p.Ser1501Arg)
c.2905A>C (p.Ser969Arg)
n.5041A>C
6g.52025046T>ACA450614134PKHD1c.4764A>T (p.Gly1588=)
c.4122A>T (p.Gly1374=)
c.4053A>T (p.Gly1351=)
c.4689A>T (p.Gly1563=)
c.4500A>T (p.Gly1500=)
c.2904A>T (p.Gly968=)
n.5040A>T
6g.52025046T>CCA450614135PKHD1c.4764A>G (p.Gly1588=)
c.4122A>G (p.Gly1374=)
c.4053A>G (p.Gly1351=)
c.4689A>G (p.Gly1563=)
c.4500A>G (p.Gly1500=)
c.2904A>G (p.Gly968=)
n.5040A>G
6g.52025046T>GCA450614136PKHD1c.4764A>C (p.Gly1588=)
c.4122A>C (p.Gly1374=)
c.4053A>C (p.Gly1351=)
c.4689A>C (p.Gly1563=)
c.4500A>C (p.Gly1500=)
c.2904A>C (p.Gly968=)
n.5040A>C
6g.52025047C>ACA364431497PKHD1c.4763G>T (p.Gly1588Val)
c.4121G>T (p.Gly1374Val)
c.4052G>T (p.Gly1351Val)
c.4688G>T (p.Gly1563Val)
c.4499G>T (p.Gly1500Val)
c.2903G>T (p.Gly968Val)
n.5039G>T
6g.52025047C>GCA364431500PKHD1c.4763G>C (p.Gly1588Ala)
c.4121G>C (p.Gly1374Ala)
c.4052G>C (p.Gly1351Ala)
c.4688G>C (p.Gly1563Ala)
c.4499G>C (p.Gly1500Ala)
c.2903G>C (p.Gly968Ala)
n.5039G>C
6g.52025047C>TCA364431501PKHD1c.4763G>A (p.Gly1588Glu)
c.4121G>A (p.Gly1374Glu)
c.4052G>A (p.Gly1351Glu)
c.4688G>A (p.Gly1563Glu)
c.4499G>A (p.Gly1500Glu)
c.2903G>A (p.Gly968Glu)
n.5039G>A
6g.52025048C>ACA364431504PKHD1c.4762G>T (p.Gly1588Ter)
c.4120G>T (p.Gly1374Ter)
c.4051G>T (p.Gly1351Ter)
c.4687G>T (p.Gly1563Ter)
c.4498G>T (p.Gly1500Ter)
c.2902G>T (p.Gly968Ter)
n.5038G>T
6g.52025048C>GCA364431503PKHD1c.4762G>C (p.Gly1588Arg)
c.4120G>C (p.Gly1374Arg)
c.4051G>C (p.Gly1351Arg)
c.4687G>C (p.Gly1563Arg)
c.4498G>C (p.Gly1500Arg)
c.2902G>C (p.Gly968Arg)
n.5038G>C
6g.52025048C>TCA364431502PKHD1c.4762G>A (p.Gly1588Arg)
c.4120G>A (p.Gly1374Arg)
c.4051G>A (p.Gly1351Arg)
c.4687G>A (p.Gly1563Arg)
c.4498G>A (p.Gly1500Arg)
c.2902G>A (p.Gly968Arg)
n.5038G>A
6g.52025049A=CA1628647093PKHD1c.4761T= (p.Gly1587=)
c.4119T= (p.Gly1373=)
c.4050T= (p.Gly1350=)
c.4686T= (p.Gly1562=)
c.4497T= (p.Gly1499=)
c.2901T= (p.Gly967=)
n.5037T=
6g.52025049A>CCA450614141PKHD1c.4761T>G (p.Gly1587=)
c.4119T>G (p.Gly1373=)
c.4050T>G (p.Gly1350=)
c.4686T>G (p.Gly1562=)
c.4497T>G (p.Gly1499=)
c.2901T>G (p.Gly967=)
n.5037T>G
6g.52025049A>GCA450614143PKHD1c.4761T>C (p.Gly1587=)
c.4119T>C (p.Gly1373=)
c.4050T>C (p.Gly1350=)
c.4686T>C (p.Gly1562=)
c.4497T>C (p.Gly1499=)
c.2901T>C (p.Gly967=)
n.5037T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.52025049A>TCA450614144PKHD1c.4761T>A (p.Gly1587=)
c.4119T>A (p.Gly1373=)
c.4050T>A (p.Gly1350=)
c.4686T>A (p.Gly1562=)
c.4497T>A (p.Gly1499=)
c.2901T>A (p.Gly967=)
n.5037T>A
6g.52025050C>ACA364431506PKHD1c.4760G>T (p.Gly1587Val)
c.4118G>T (p.Gly1373Val)
c.4049G>T (p.Gly1350Val)
c.4685G>T (p.Gly1562Val)
c.4496G>T (p.Gly1499Val)
c.2900G>T (p.Gly967Val)
n.5036G>T
6g.52025050C>GCA364431508PKHD1c.4760G>C (p.Gly1587Ala)
c.4118G>C (p.Gly1373Ala)
c.4049G>C (p.Gly1350Ala)
c.4685G>C (p.Gly1562Ala)
c.4496G>C (p.Gly1499Ala)
c.2900G>C (p.Gly967Ala)
n.5036G>C
6g.52025050C>TCA364431509PKHD1c.4760G>A (p.Gly1587Asp)
c.4118G>A (p.Gly1373Asp)
c.4049G>A (p.Gly1350Asp)
c.4685G>A (p.Gly1562Asp)
c.4496G>A (p.Gly1499Asp)
c.2900G>A (p.Gly967Asp)
n.5036G>A
 gnomAD v4 COSMIC COSMIC

Number of alleles fetched