Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.52024951G>A | CA364430979 | PKHD1 | c.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 | |
6 | g.52024951G>C | CA364430983 | PKHD1 | c.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 | |
6 | g.52024951G>T | CA364430982 | PKHD1 | c.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 |
6 | g.52024952C>A | CA364430985 | PKHD1 | c.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 | |
6 | g.52024952C>G | CA364430986 | PKHD1 | c.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 | |
6 | g.52024952C>T | CA364430987 | PKHD1 | c.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 | |
6 | g.52024953A>C | CA450613985 | PKHD1 | c.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 | |
6 | g.52024953A>G | CA450613987 | PKHD1 | c.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 | |
6 | g.52024953A>T | CA450613989 | PKHD1 | c.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 | |
6 | g.52024954C>A | CA364430990 | PKHD1 | c.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 | |
6 | g.52024954C>G | CA364430993 | PKHD1 | c.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 | |
6 | g.52024954C>T | CA364430995 | PKHD1 | c.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 | |
6 | g.52024955C>A | CA364430998 | PKHD1 | c.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 |
6 | g.52024955C= | CA1628646918 | PKHD1 | c.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= | |
6 | g.52024955C>G | CA364431001 | PKHD1 | c.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 | |
6 | g.52024955C>T | CA3852653 | PKHD1 | c.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 |
6 | g.52024956G>A | CA3852654 | PKHD1 | c.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 |
6 | g.52024956G>C | CA364431005 | PKHD1 | c.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 | |
6 | g.52024956G= | CA1628646924 | PKHD1 | c.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= | |
6 | g.52024956G>T | CA450613994 | PKHD1 | c.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 |
6 | g.52024957A>C | CA364431014 | PKHD1 | c.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 | |
6 | g.52024957A>G | CA364431008 | PKHD1 | c.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 | |
6 | g.52024957A>T | CA364431011 | PKHD1 | c.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 | |
6 | g.52024958T>A | CA3852656 | PKHD1 | c.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 |
6 | g.52024958T>C | CA3852655 | PKHD1 | c.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 |
6 | g.52024958T>G | CA364431019 | PKHD1 | c.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 | |
6 | g.52024958T= | CA1628646934 | PKHD1 | c.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= | |
6 | g.52024959G>A | CA450614001 | PKHD1 | c.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 |
6 | g.52024959G>C | CA364431022 | PKHD1 | c.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 | |
6 | g.52024959G= | CA1628646940 | PKHD1 | c.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= | |
6 | g.52024959G>T | CA364431025 | PKHD1 | c.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 | |
6 | g.52024960T>A | CA3852657 | PKHD1 | c.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 |
6 | g.52024960T>C | CA364431029 | PKHD1 | c.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 |
6 | g.52024960T>G | CA364431035 | PKHD1 | c.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 | |
6 | g.52024960T= | CA1628646942 | PKHD1 | c.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= | |
6 | g.52024961T>A | CA364431036 | PKHD1 | c.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 | |
6 | g.52024961T>C | CA138946383 | PKHD1 | c.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 |
6 | g.52024961T>G | CA364431039 | PKHD1 | c.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 | |
6 | g.52024961T= | CA1628646946 | PKHD1 | c.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= | |
6 | g.52024962C>A | CA450614007 | PKHD1 | c.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 | |
6 | g.52024962C>G | CA450614008 | PKHD1 | c.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 | |
6 | g.52024962C>T | CA450614009 | PKHD1 | c.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 |
6 | g.52024963A>C | CA364431046 | PKHD1 | c.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 | |
6 | g.52024963A>G | CA364431049 | PKHD1 | c.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 | |
6 | g.52024963A>T | CA364431043 | PKHD1 | c.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 | |
6 | g.52024964C>A | CA364431050 | PKHD1 | c.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 | |
6 | g.52024964C>G | CA364431058 | PKHD1 | c.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 | |
6 | g.52024964C>T | CA364431061 | PKHD1 | c.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 | |
6 | g.52024965C>A | CA450614015 | PKHD1 | c.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 |
6 | g.52024965C= | CA1628646953 | PKHD1 | c.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= | |
6 | g.52024965C>G | CA450614016 | PKHD1 | c.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 | |
6 | g.52024965C>T | CA3852658 | PKHD1 | c.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 |
6 | g.52024966G>A | CA3852659 | PKHD1 | c.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 |
6 | g.52024966G>C | CA364431066 | PKHD1 | c.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 | |
6 | g.52024966G= | CA1628646961 | PKHD1 | c.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= | |
6 | g.52024966G>T | CA3852660 | PKHD1 | c.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 |
6 | g.52024967T>A | CA364431072 | PKHD1 | c.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 | |
6 | g.52024967T>C | CA364431073 | PKHD1 | c.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 |
6 | g.52024967T>G | CA364431074 | PKHD1 | c.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 | |
6 | g.52024968C>A | CA450614020 | PKHD1 | c.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 | |
6 | g.52024968C>G | CA450614022 | PKHD1 | c.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 | |
6 | g.52024968C>T | CA450614021 | PKHD1 | c.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 | |
6 | g.52024969A>C | CA364431075 | PKHD1 | c.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 | |
6 | g.52024969A>G | CA364431077 | PKHD1 | c.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 | |
6 | g.52024969A>T | CA364431078 | PKHD1 | c.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 | |
6 | g.52024970G>A | CA450614026 | PKHD1 | c.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 |
6 | g.52024970G>C | CA364431082 | PKHD1 | c.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 | |
6 | g.52024970G>T | CA364431080 | PKHD1 | c.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 | |
6 | g.52024971G>A | CA138946389 | PKHD1 | c.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 |
6 | g.52024971G>C | CA364431084 | PKHD1 | c.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 | |
6 | g.52024971G= | CA1628646965 | PKHD1 | c.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= | |
6 | g.52024971G>T | CA364431087 | PKHD1 | c.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 | |
6 | g.52024972C>A | CA364431089 | PKHD1 | c.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 |
6 | g.52024972C= | CA1628646968 | PKHD1 | c.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= | |
6 | g.52024972C>G | CA364431092 | PKHD1 | c.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 | |
6 | g.52024972C>T | CA3852661 | PKHD1 | c.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 |
6 | g.52024973A>C | CA364431103 | PKHD1 | c.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 | |
6 | g.52024973A>G | CA364431112 | PKHD1 | c.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 | |
6 | g.52024973A>T | CA364431122 | PKHD1 | c.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 | |
6 | g.52024974G>A | CA450614033 | PKHD1 | c.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 | |
6 | g.52024974G>C | CA450614034 | PKHD1 | c.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 | |
6 | g.52024974G= | CA1628646973 | PKHD1 | c.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= | |
6 | g.52024974G>T | CA450614035 | PKHD1 | c.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 |
6 | g.52024975del | CA2499218363 | PKHD1 | c.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 |
6 | g.52024975G>A | CA364431128 | PKHD1 | c.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 | |
6 | g.52024975G>C | CA364431132 | PKHD1 | c.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 | |
6 | g.52024975G= | CA1628646975 | PKHD1 | c.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= | |
6 | g.52024975G>T | CA3852662 | PKHD1 | c.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 |
6 | g.52024976T>A | CA364431136 | PKHD1 | c.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 | |
6 | g.52024976T>C | CA364431139 | PKHD1 | c.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 |
6 | g.52024976T>G | CA364431142 | PKHD1 | c.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 | |
6 | g.52024976T= | CA1628646980 | PKHD1 | c.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= | |
6 | g.52024977C>A | CA364431143 | PKHD1 | c.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 |
6 | g.52024977C>G | CA364431144 | PKHD1 | c.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 | |
6 | g.52024977C>T | CA450614039 | PKHD1 | c.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 | |
6 | g.52024978T>A | CA364431146 | PKHD1 | c.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 | |
6 | g.52024978T>C | CA364431163 | PKHD1 | c.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 |
6 | g.52024978T>G | CA364431157 | PKHD1 | c.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 |
6 | g.52024978T= | CA1628646983 | PKHD1 | c.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= | |
6 | g.52024979G>A | CA364431166 | PKHD1 | c.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 | |
6 | g.52024979G>C | CA364431171 | PKHD1 | c.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 | |
6 | g.52024979G= | CA1628646987 | PKHD1 | c.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= | |
6 | g.52024979G>T | CA3852663 | PKHD1 | c.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 |
6 | g.52024980C>A | CA364431175 | PKHD1 | c.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 |
6 | g.52024980C= | CA1628646990 | PKHD1 | c.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= | |
6 | g.52024980C>G | CA364431177 | PKHD1 | c.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 | |
6 | g.52024980C>T | CA450614043 | PKHD1 | c.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 | |
6 | g.52024981T>A | CA364431179 | PKHD1 | c.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 | |
6 | g.52024981T>C | CA364431181 | PKHD1 | c.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 |
6 | g.52024981T>G | CA364431183 | PKHD1 | c.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 | |
6 | g.52024981T= | CA1628646991 | PKHD1 | c.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= | |
6 | g.52024982G>A | CA138946405 | PKHD1 | c.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 |
6 | g.52024982G>C | CA364431187 | PKHD1 | c.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 | |
6 | g.52024982G= | CA1628646996 | PKHD1 | c.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= | |
6 | g.52024982G>T | CA3852664 | PKHD1 | c.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 |
6 | g.52024983G>A | CA450614046 | PKHD1 | c.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 |
6 | g.52024983G>C | CA364431190 | PKHD1 | c.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 | |
6 | g.52024983G>T | CA364431191 | PKHD1 | c.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 | |
6 | g.52024984T>A | CA364431194 | PKHD1 | c.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 | |
6 | g.52024984T>C | CA364431195 | PKHD1 | c.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 | |
6 | g.52024984T>G | CA364431196 | PKHD1 | c.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 |
6 | g.52024985C>A | CA364431198 | PKHD1 | c.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 | |
6 | g.52024985C>G | CA364431202 | PKHD1 | c.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 | |
6 | g.52024985C>T | CA364431201 | PKHD1 | c.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 | |
6 | g.52024986A>C | CA364431203 | PKHD1 | c.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 | |
6 | g.52024986A>G | CA450614047 | PKHD1 | c.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 | |
6 | g.52024986A>T | CA450614048 | PKHD1 | c.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 | |
6 | g.52024986_52024988delinsAAT | CA1628646999 | PKHD1 | c.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 | |
6 | g.52024987A>C | CA364431206 | PKHD1 | c.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 | |
6 | g.52024987A>G | CA364431208 | PKHD1 | c.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 | |
6 | g.52024987A>T | CA364431210 | PKHD1 | c.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 | |
6 | g.52024990_52024991del | CA16041052 | PKHD1 | c.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 |
6 | g.52024988T>A | CA364431218 | PKHD1 | c.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 |
6 | g.52024988T>C | CA364431220 | PKHD1 | c.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 |
6 | g.52024988T>G | CA364431226 | PKHD1 | c.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 | |
6 | g.52024989A>C | CA364431228 | PKHD1 | c.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 | |
6 | g.52024989A>G | CA450614054 | PKHD1 | c.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 | |
6 | g.52024989A>T | CA364431230 | PKHD1 | c.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 | |
6 | g.52024990T>A | CA364431235 | PKHD1 | c.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 | |
6 | g.52024990T>C | CA3852665 | PKHD1 | c.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 |
6 | g.52024990T>G | CA364431233 | PKHD1 | c.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 | |
6 | g.52024990T= | CA1628647007 | PKHD1 | c.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= | |
6 | g.52024991A>C | CA364431241 | PKHD1 | c.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 | |
6 | g.52024991A>G | CA364431237 | PKHD1 | c.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 | |
6 | g.52024991A>T | CA364431239 | PKHD1 | c.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 | |
6 | g.52024992G>A | CA450614057 | PKHD1 | c.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 |
6 | g.52024992G>C | CA450614059 | PKHD1 | c.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 | |
6 | g.52024992G>T | CA450614061 | PKHD1 | c.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 |
6 | g.52024993A>C | CA364431247 | PKHD1 | c.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 | |
6 | g.52024993A>G | CA364431260 | PKHD1 | c.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 | |
6 | g.52024993A>T | CA364431261 | PKHD1 | c.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 | |
6 | g.52024994del | CA2573140961 | PKHD1 | c.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 |
6 | g.52024994C>A | CA364431264 | PKHD1 | c.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 | |
6 | g.52024994C= | CA1628647013 | PKHD1 | c.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= | |
6 | g.52024994C>G | CA364431265 | PKHD1 | c.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 |
6 | g.52024994C>T | CA3852666 | PKHD1 | c.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 |
6 | g.52024995T>A | CA450614066 | PKHD1 | c.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 | |
6 | g.52024995T>C | CA450614065 | PKHD1 | c.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 |
6 | g.52024995T>G | CA450614064 | PKHD1 | c.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 |
6 | g.52024995T= | CA1628647018 | PKHD1 | c.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= | |
6 | g.52024996G>A | CA364431280 | PKHD1 | c.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 |
6 | g.52024996G>C | CA364431281 | PKHD1 | c.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 | |
6 | g.52024996G>T | CA364431283 | PKHD1 | c.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 | |
6 | g.52024997A>C | CA364431288 | PKHD1 | c.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 | |
6 | g.52024997A>G | CA364431289 | PKHD1 | c.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 | |
6 | g.52024997A>T | CA364431292 | PKHD1 | c.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 | |
6 | g.52024998C>A | CA138946425 | PKHD1 | c.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 |
6 | g.52024998C= | CA1628647023 | PKHD1 | c.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= | |
6 | g.52024998C>G | CA450614071 | PKHD1 | c.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 | |
6 | g.52024998C>T | CA3852667 | PKHD1 | c.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 |
6 | g.52024999G>A | CA364431297 | PKHD1 | c.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 |
6 | g.52024999G>C | CA364431298 | PKHD1 | c.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 | |
6 | g.52024999G= | CA1628647028 | PKHD1 | c.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= | |
6 | g.52024999G>T | CA364431300 | PKHD1 | c.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 | |
6 | g.52025000T>A | CA364431303 | PKHD1 | c.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 | |
6 | g.52025000T>C | CA364431305 | PKHD1 | c.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 | |
6 | g.52025000T>G | CA364431306 | PKHD1 | c.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 | |
6 | g.52025001G>A | CA450614075 | PKHD1 | c.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 | |
6 | g.52025001G>C | CA450614077 | PKHD1 | c.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 | |
6 | g.52025001G>T | CA450614076 | PKHD1 | c.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 | |
6 | g.52025002G>A | CA364431307 | PKHD1 | c.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 |
6 | g.52025002G>C | CA364431308 | PKHD1 | c.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 | |
6 | g.52025002G>T | CA364431309 | PKHD1 | c.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 | |
6 | g.52025003T>A | CA364431312 | PKHD1 | c.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 | |
6 | g.52025003T>C | CA364431314 | PKHD1 | c.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 | |
6 | g.52025003T>G | CA364431318 | PKHD1 | c.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 | |
6 | g.52025004G>A | CA450614083 | PKHD1 | c.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 |
6 | g.52025004G>C | CA364431321 | PKHD1 | c.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 | |
6 | g.52025004G= | CA1628647031 | PKHD1 | c.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= | |
6 | g.52025004G>T | CA364431328 | PKHD1 | c.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 | |
6 | g.52025005T>A | CA364431335 | PKHD1 | c.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 | |
6 | g.52025005T>C | CA364431334 | PKHD1 | c.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 | |
6 | g.52025005T>G | CA364431330 | PKHD1 | c.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 | |
6 | g.52025006T>A | CA364431337 | PKHD1 | c.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 | |
6 | g.52025006T>C | CA364431340 | PKHD1 | c.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 | |
6 | g.52025006T>G | CA364431341 | PKHD1 | c.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 |
6 | g.52025007C>A | CA364431343 | PKHD1 | c.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 | |
6 | g.52025007C>G | CA364431344 | PKHD1 | c.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 | |
6 | g.52025007C>T | CA450614086 | PKHD1 | c.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 | |
6 | g.52025008T>A | CA364431352 | PKHD1 | c.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 | |
6 | g.52025008T>C | CA364431350 | PKHD1 | c.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 | |
6 | g.52025008T>G | CA364431346 | PKHD1 | c.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 | |
6 | g.52025009G>A | CA364431354 | PKHD1 | c.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 | |
6 | g.52025009G>C | CA364431355 | PKHD1 | c.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 | |
6 | g.52025009G>T | CA364431357 | PKHD1 | c.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 | |
6 | g.52025010T>A | CA450614089 | PKHD1 | c.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 | |
6 | g.52025010T>C | CA450614091 | PKHD1 | c.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 | |
6 | g.52025010T>G | CA450614087 | PKHD1 | c.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 | |
6 | g.52025011C>A | CA364431360 | PKHD1 | c.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 |
6 | g.52025011C>G | CA364431362 | PKHD1 | c.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 | |
6 | g.52025011C>T | CA364431364 | PKHD1 | c.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 |
6 | g.52025012C>A | CA364431369 | PKHD1 | c.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 | |
6 | g.52025012C>G | CA364431366 | PKHD1 | c.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 | |
6 | g.52025012C>T | CA364431367 | PKHD1 | c.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 |
6 | g.52025013T>A | CA364431371 | PKHD1 | c.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 | |
6 | g.52025013T>C | CA450614094 | PKHD1 | c.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 |
6 | g.52025013T>G | CA364431373 | PKHD1 | c.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 | |
6 | g.52025014C>A | CA3852668 | PKHD1 | c.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 |
6 | g.52025014C= | CA1628647036 | PKHD1 | c.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= | |
6 | g.52025014C>G | CA364431375 | PKHD1 | c.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 | |
6 | g.52025014C>T | CA364431377 | PKHD1 | c.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 |
6 | g.52025015T>A | CA364431378 | PKHD1 | c.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 | |
6 | g.52025015T>C | CA364431384 | PKHD1 | c.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 | |
6 | g.52025015T>G | CA450614099 | PKHD1 | c.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 | |
6 | g.52025016C>A | CA450614100 | PKHD1 | c.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 | |
6 | g.52025016C>G | CA450614101 | PKHD1 | c.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 | |
6 | g.52025016C>T | CA450614103 | PKHD1 | c.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 |
6 | g.52025017A>C | CA364431389 | PKHD1 | c.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 | |
6 | g.52025017A>G | CA364431390 | PKHD1 | c.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 | |
6 | g.52025017A>T | CA364431392 | PKHD1 | c.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 | |
6 | g.52025018G>A | CA450614106 | PKHD1 | c.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 |
6 | g.52025018G>C | CA364431393 | PKHD1 | c.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 |
6 | g.52025018G= | CA1628647041 | PKHD1 | c.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= | |
6 | g.52025018G>T | CA364431394 | PKHD1 | c.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 | |
6 | g.52025019G>A | CA450614108 | PKHD1 | c.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 |
6 | g.52025019G>C | CA450614110 | PKHD1 | c.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 |
6 | g.52025019G= | CA1628647043 | PKHD1 | c.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= | |
6 | g.52025019G>T | CA450614112 | PKHD1 | c.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 | |
6 | g.52025020C>A | CA364431398 | PKHD1 | c.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 | |
6 | g.52025020C= | CA1628647045 | PKHD1 | c.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= | |
6 | g.52025020C>G | CA364431395 | PKHD1 | c.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 | |
6 | g.52025020C>T | CA364431396 | PKHD1 | c.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 |
6 | g.52025021C>A | CA364431400 | PKHD1 | c.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 |
6 | g.52025021C= | CA1628647048 | PKHD1 | c.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= | |
6 | g.52025021C>G | CA364431401 | PKHD1 | c.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 |
6 | g.52025021C>T | CA364431402 | PKHD1 | c.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 |
6 | g.52025022T>A | CA450614115 | PKHD1 | c.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 | |
6 | g.52025022T>C | CA450614119 | PKHD1 | c.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 | |
6 | g.52025022T>G | CA450614117 | PKHD1 | c.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 | |
6 | g.52025023G>A | CA364431403 | PKHD1 | c.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 | |
6 | g.52025023G>C | CA364431404 | PKHD1 | c.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 |
6 | g.52025023G= | CA1628647053 | PKHD1 | c.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= | |
6 | g.52025023G>T | CA364431405 | PKHD1 | c.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 | |
6 | g.52025024T>A | CA364431407 | PKHD1 | c.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 | |
6 | g.52025024T>C | CA364431409 | PKHD1 | c.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 |
6 | g.52025024T>G | CA364431410 | PKHD1 | c.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 | |
6 | g.52025024T= | CA1628647057 | PKHD1 | c.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= | |
6 | g.52025025G>A | CA3852669 | PKHD1 | c.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 |
6 | g.52025025G>C | CA450614130 | PKHD1 | c.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 | |
6 | g.52025025G= | CA1628647061 | PKHD1 | c.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= | |
6 | g.52025025G>T | CA450614131 | PKHD1 | c.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 | |
6 | g.52025026C>A | CA364431412 | PKHD1 | c.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 | |
6 | g.52025026C= | CA1628647064 | PKHD1 | c.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= | |
6 | g.52025026C>G | CA364431413 | PKHD1 | c.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 | |
6 | g.52025026C>T | CA364431414 | PKHD1 | c.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 |
6 | g.52025027C>A | CA364431418 | PKHD1 | c.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 | |
6 | g.52025027C>G | CA364431415 | PKHD1 | c.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 | |
6 | g.52025027C>T | CA364431417 | PKHD1 | c.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 | |
6 | g.52025028C>A | CA364431419 | PKHD1 | c.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 | |
6 | g.52025028C>G | CA364431422 | PKHD1 | c.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 | |
6 | g.52025028C>T | CA450614137 | PKHD1 | c.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 | |
6 | g.52025029T>A | CA364431423 | PKHD1 | c.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 |
6 | g.52025029T>C | CA364431424 | PKHD1 | c.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 | |
6 | g.52025029T>G | CA364431427 | PKHD1 | c.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 | |
6 | g.52025029T= | CA1628647067 | PKHD1 | c.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= | |
6 | g.52025030C>A | CA364431430 | PKHD1 | c.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 | |
6 | g.52025030C= | CA1628647070 | PKHD1 | c.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= | |
6 | g.52025030C>G | CA3852670 | PKHD1 | c.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 |
6 | g.52025030C>T | CA364431434 | PKHD1 | c.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 |
6 | g.52025031T>A | CA450614142 | PKHD1 | c.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 | |
6 | g.52025031T>C | CA364431436 | PKHD1 | c.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 | |
6 | g.52025031T>G | CA450614140 | PKHD1 | c.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 | |
6 | g.52025032_52025033del | CA2573140963 | PKHD1 | c.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 |
6 | g.52025032A= | CA1628647074 | PKHD1 | c.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= | |
6 | g.52025032A>C | CA364431437 | PKHD1 | c.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 | |
6 | g.52025032A>G | CA364431438 | PKHD1 | c.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 |
6 | g.52025032A>T | CA364431440 | PKHD1 | c.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 | |
6 | g.52025033T>A | CA364431442 | PKHD1 | c.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 | |
6 | g.52025033T>C | CA364431446 | PKHD1 | c.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 |
6 | g.52025033T>G | CA364431444 | PKHD1 | c.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 | |
6 | g.52025034G>A | CA450614150 | PKHD1 | c.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 |
6 | g.52025034G>C | CA450614151 | PKHD1 | c.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 | |
6 | g.52025034G= | CA1628647078 | PKHD1 | c.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= | |
6 | g.52025034G>T | CA450614152 | PKHD1 | c.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 | |
6 | g.52025035G>A | CA364431451 | PKHD1 | c.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 | |
6 | g.52025035G>C | CA364431457 | PKHD1 | c.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 | |
6 | g.52025035G>T | CA364431454 | PKHD1 | c.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 |
6 | g.52025036T>A | CA364431460 | PKHD1 | c.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 | |
6 | g.52025036T>C | CA364431462 | PKHD1 | c.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 |
6 | g.52025036T>G | CA364431461 | PKHD1 | c.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 | |
6 | g.52025037C>A | CA364431463 | PKHD1 | c.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 | |
6 | g.52025037C>G | CA364431465 | PKHD1 | c.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 | |
6 | g.52025037C>T | CA450614118 | PKHD1 | c.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 | |
6 | g.52025038A>C | CA364431467 | PKHD1 | c.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 | |
6 | g.52025038A>G | CA364431468 | PKHD1 | c.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 | |
6 | g.52025038A>T | CA364431469 | PKHD1 | c.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 | |
6 | g.52025039A>C | CA364431471 | PKHD1 | c.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 | |
6 | g.52025039A>G | CA450614123 | PKHD1 | c.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 | |
6 | g.52025039A>T | CA364431472 | PKHD1 | c.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 | |
6 | g.52025040G>A | CA3852671 | PKHD1 | c.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 |
6 | g.52025040G>C | CA450614127 | PKHD1 | c.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 |
6 | g.52025040G= | CA1628647081 | PKHD1 | c.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= | |
6 | g.52025040G>T | CA450614128 | PKHD1 | c.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 | |
6 | g.52025041A>C | CA364431475 | PKHD1 | c.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 | |
6 | g.52025041A>G | CA364431476 | PKHD1 | c.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 | |
6 | g.52025041A>T | CA364431477 | PKHD1 | c.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 | |
6 | g.52025042G>A | CA3852672 | PKHD1 | c.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 |
6 | g.52025042G>C | CA364431479 | PKHD1 | c.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 | |
6 | g.52025042G= | CA1628647084 | PKHD1 | c.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= | |
6 | g.52025042G>T | CA364431478 | PKHD1 | c.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 |
6 | g.52025043G>A | CA450614129 | PKHD1 | c.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 | |
6 | g.52025043G>C | CA364431481 | PKHD1 | c.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 | |
6 | g.52025043G= | CA1628647087 | PKHD1 | c.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= | |
6 | g.52025043G>T | CA364431483 | PKHD1 | c.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 |
6 | g.52025044C>A | CA364431485 | PKHD1 | c.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 | |
6 | g.52025044C= | CA1628647090 | PKHD1 | c.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= | |
6 | g.52025044C>G | CA364431486 | PKHD1 | c.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 | |
6 | g.52025044C>T | CA3852673 | PKHD1 | c.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 |
6 | g.52025045T>A | CA364431489 | PKHD1 | c.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 | |
6 | g.52025045T>C | CA364431492 | PKHD1 | c.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 | |
6 | g.52025045T>G | CA364431494 | PKHD1 | c.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 | |
6 | g.52025046T>A | CA450614134 | PKHD1 | c.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 | |
6 | g.52025046T>C | CA450614135 | PKHD1 | c.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 | |
6 | g.52025046T>G | CA450614136 | PKHD1 | c.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 | |
6 | g.52025047C>A | CA364431497 | PKHD1 | c.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 | |
6 | g.52025047C>G | CA364431500 | PKHD1 | c.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 | |
6 | g.52025047C>T | CA364431501 | PKHD1 | c.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 | |
6 | g.52025048C>A | CA364431504 | PKHD1 | c.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 | |
6 | g.52025048C>G | CA364431503 | PKHD1 | c.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 | |
6 | g.52025048C>T | CA364431502 | PKHD1 | c.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 | |
6 | g.52025049A= | CA1628647093 | PKHD1 | c.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= | |
6 | g.52025049A>C | CA450614141 | PKHD1 | c.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 | |
6 | g.52025049A>G | CA450614143 | PKHD1 | c.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 |
6 | g.52025049A>T | CA450614144 | PKHD1 | c.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 | |
6 | g.52025050C>A | CA364431506 | PKHD1 | c.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 | |
6 | g.52025050C>G | CA364431508 | PKHD1 | c.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 | |
6 | g.52025050C>T | CA364431509 | PKHD1 | c.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 |
6 | g.52025051C>A | CA364431513 | PKHD1 | c.4759G>T (p.Gly1587Cys) c.4117G>T (p.Gly1373Cys) c.4048G>T (p.Gly1350Cys) c.4684G>T (p.Gly1562Cys) c.4495G>T (p.Gly1499Cys) c.2899G>T (p.Gly967Cys) n.5035G>T | |
6 | g.52025051C>G | CA364431515 | PKHD1 | c.4759G>C (p.Gly1587Arg) c.4117G>C (p.Gly1373Arg) c.4048G>C (p.Gly1350Arg) c.4684G>C (p.Gly1562Arg) c.4495G>C (p.Gly1499Arg) c.2899G>C (p.Gly967Arg) n.5035G>C | |
6 | g.52025051C>T | CA364431516 | PKHD1 | c.4759G>A (p.Gly1587Ser) c.4117G>A (p.Gly1373Ser) c.4048G>A (p.Gly1350Ser) c.4684G>A (p.Gly1562Ser) c.4495G>A (p.Gly1499Ser) c.2899G>A (p.Gly967Ser) n.5035G>A |