Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.52024799T>A | CA364430109 | PKHD1 | c.5011A>T (p.Thr1671Ser) c.4369A>T (p.Thr1457Ser) c.4300A>T (p.Thr1434Ser) c.4936A>T (p.Thr1646Ser) c.4747A>T (p.Thr1583Ser) c.3151A>T (p.Thr1051Ser) n.5287A>T | |
6 | g.52024799T>C | CA364430110 | PKHD1 | c.5011A>G (p.Thr1671Ala) c.4369A>G (p.Thr1457Ala) c.4300A>G (p.Thr1434Ala) c.4936A>G (p.Thr1646Ala) c.4747A>G (p.Thr1583Ala) c.3151A>G (p.Thr1051Ala) n.5287A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.52024799T>G | CA364430111 | PKHD1 | c.5011A>C (p.Thr1671Pro) c.4369A>C (p.Thr1457Pro) c.4300A>C (p.Thr1434Pro) c.4936A>C (p.Thr1646Pro) c.4747A>C (p.Thr1583Pro) c.3151A>C (p.Thr1051Pro) n.5287A>C | |
6 | g.52024799T= | CA1628646680 | PKHD1 | c.5011A= (p.Thr1671=) c.4369A= (p.Thr1457=) c.4300A= (p.Thr1434=) c.4936A= (p.Thr1646=) c.4747A= (p.Thr1583=) c.3151A= (p.Thr1051=) n.5287A= | |
6 | g.52024800T>A | CA364430116 | PKHD1 | c.5010A>T (p.Leu1670Phe) c.4368A>T (p.Leu1456Phe) c.4299A>T (p.Leu1433Phe) c.4935A>T (p.Leu1645Phe) c.4746A>T (p.Leu1582Phe) c.3150A>T (p.Leu1050Phe) n.5286A>T | gnomAD v4 |
6 | g.52024800T>C | CA450613866 | PKHD1 | c.5010A>G (p.Leu1670=) c.4368A>G (p.Leu1456=) c.4299A>G (p.Leu1433=) c.4935A>G (p.Leu1645=) c.4746A>G (p.Leu1582=) c.3150A>G (p.Leu1050=) n.5286A>G | |
6 | g.52024800T>G | CA364430113 | PKHD1 | c.5010A>C (p.Leu1670Phe) c.4368A>C (p.Leu1456Phe) c.4299A>C (p.Leu1433Phe) c.4935A>C (p.Leu1645Phe) c.4746A>C (p.Leu1582Phe) c.3150A>C (p.Leu1050Phe) n.5286A>C | |
6 | g.52024801A>C | CA364430120 | PKHD1 | c.5009T>G (p.Leu1670Ter) c.4367T>G (p.Leu1456Ter) c.4298T>G (p.Leu1433Ter) c.4934T>G (p.Leu1645Ter) c.4745T>G (p.Leu1582Ter) c.3149T>G (p.Leu1050Ter) n.5285T>G | |
6 | g.52024801A>G | CA364430125 | PKHD1 | c.5009T>C (p.Leu1670Ser) c.4367T>C (p.Leu1456Ser) c.4298T>C (p.Leu1433Ser) c.4934T>C (p.Leu1645Ser) c.4745T>C (p.Leu1582Ser) c.3149T>C (p.Leu1050Ser) n.5285T>C | |
6 | g.52024801A>T | CA364430127 | PKHD1 | c.5009T>A (p.Leu1670Ter) c.4367T>A (p.Leu1456Ter) c.4298T>A (p.Leu1433Ter) c.4934T>A (p.Leu1645Ter) c.4745T>A (p.Leu1582Ter) c.3149T>A (p.Leu1050Ter) n.5285T>A | |
6 | g.52024802A>C | CA364430129 | PKHD1 | c.5008T>G (p.Leu1670Val) c.4366T>G (p.Leu1456Val) c.4297T>G (p.Leu1433Val) c.4933T>G (p.Leu1645Val) c.4744T>G (p.Leu1582Val) c.3148T>G (p.Leu1050Val) n.5284T>G | |
6 | g.52024802A>G | CA450613867 | PKHD1 | c.5008T>C (p.Leu1670=) c.4366T>C (p.Leu1456=) c.4297T>C (p.Leu1433=) c.4933T>C (p.Leu1645=) c.4744T>C (p.Leu1582=) c.3148T>C (p.Leu1050=) n.5284T>C | |
6 | g.52024802A>T | CA364430133 | PKHD1 | c.5008T>A (p.Leu1670Ile) c.4366T>A (p.Leu1456Ile) c.4297T>A (p.Leu1433Ile) c.4933T>A (p.Leu1645Ile) c.4744T>A (p.Leu1582Ile) c.3148T>A (p.Leu1050Ile) n.5284T>A | |
6 | g.52024803G>A | CA450613868 | PKHD1 | c.5007C>T (p.Ile1669=) c.4365C>T (p.Ile1455=) c.4296C>T (p.Ile1432=) c.4932C>T (p.Ile1644=) c.4743C>T (p.Ile1581=) c.3147C>T (p.Ile1049=) n.5283C>T | gnomAD v4 |
6 | g.52024803G>C | CA364430136 | PKHD1 | c.5007C>G (p.Ile1669Met) c.4365C>G (p.Ile1455Met) c.4296C>G (p.Ile1432Met) c.4932C>G (p.Ile1644Met) c.4743C>G (p.Ile1581Met) c.3147C>G (p.Ile1049Met) n.5283C>G | |
6 | g.52024803G>T | CA450613869 | PKHD1 | c.5007C>A (p.Ile1669=) c.4365C>A (p.Ile1455=) c.4296C>A (p.Ile1432=) c.4932C>A (p.Ile1644=) c.4743C>A (p.Ile1581=) c.3147C>A (p.Ile1049=) n.5283C>A | |
6 | g.52024804A>C | CA364430140 | PKHD1 | c.5006T>G (p.Ile1669Ser) c.4364T>G (p.Ile1455Ser) c.4295T>G (p.Ile1432Ser) c.4931T>G (p.Ile1644Ser) c.4742T>G (p.Ile1581Ser) c.3146T>G (p.Ile1049Ser) n.5282T>G | |
6 | g.52024804A>G | CA364430137 | PKHD1 | c.5006T>C (p.Ile1669Thr) c.4364T>C (p.Ile1455Thr) c.4295T>C (p.Ile1432Thr) c.4931T>C (p.Ile1644Thr) c.4742T>C (p.Ile1581Thr) c.3146T>C (p.Ile1049Thr) n.5282T>C | |
6 | g.52024804A>T | CA364430138 | PKHD1 | c.5006T>A (p.Ile1669Asn) c.4364T>A (p.Ile1455Asn) c.4295T>A (p.Ile1432Asn) c.4931T>A (p.Ile1644Asn) c.4742T>A (p.Ile1581Asn) c.3146T>A (p.Ile1049Asn) n.5282T>A | |
6 | g.52024805T>A | CA364430143 | PKHD1 | c.5005A>T (p.Ile1669Phe) c.4363A>T (p.Ile1455Phe) c.4294A>T (p.Ile1432Phe) c.4930A>T (p.Ile1644Phe) c.4741A>T (p.Ile1581Phe) c.3145A>T (p.Ile1049Phe) n.5281A>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.52024805T>C | CA3852629 | PKHD1 | c.5005A>G (p.Ile1669Val) c.4363A>G (p.Ile1455Val) c.4294A>G (p.Ile1432Val) c.4930A>G (p.Ile1644Val) c.4741A>G (p.Ile1581Val) c.3145A>G (p.Ile1049Val) n.5281A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.52024805T>G | CA364430146 | PKHD1 | c.5005A>C (p.Ile1669Leu) c.4363A>C (p.Ile1455Leu) c.4294A>C (p.Ile1432Leu) c.4930A>C (p.Ile1644Leu) c.4741A>C (p.Ile1581Leu) c.3145A>C (p.Ile1049Leu) n.5281A>C | |
6 | g.52024805T= | CA1628646685 | PKHD1 | c.5005A= (p.Ile1669=) c.4363A= (p.Ile1455=) c.4294A= (p.Ile1432=) c.4930A= (p.Ile1644=) c.4741A= (p.Ile1581=) c.3145A= (p.Ile1049=) n.5281A= | |
6 | g.52024806G>A | CA450613870 | PKHD1 | c.5004C>T (p.Asp1668=) c.4362C>T (p.Asp1454=) c.4293C>T (p.Asp1431=) c.4929C>T (p.Asp1643=) c.4740C>T (p.Asp1580=) c.3144C>T (p.Asp1048=) n.5280C>T | |
6 | g.52024806G>C | CA364430148 | PKHD1 | c.5004C>G (p.Asp1668Glu) c.4362C>G (p.Asp1454Glu) c.4293C>G (p.Asp1431Glu) c.4929C>G (p.Asp1643Glu) c.4740C>G (p.Asp1580Glu) c.3144C>G (p.Asp1048Glu) n.5280C>G | |
6 | g.52024806G>T | CA364430150 | PKHD1 | c.5004C>A (p.Asp1668Glu) c.4362C>A (p.Asp1454Glu) c.4293C>A (p.Asp1431Glu) c.4929C>A (p.Asp1643Glu) c.4740C>A (p.Asp1580Glu) c.3144C>A (p.Asp1048Glu) n.5280C>A | |
6 | g.52024807T>A | CA364430161 | PKHD1 | c.5003A>T (p.Asp1668Val) c.4361A>T (p.Asp1454Val) c.4292A>T (p.Asp1431Val) c.4928A>T (p.Asp1643Val) c.4739A>T (p.Asp1580Val) c.3143A>T (p.Asp1048Val) n.5279A>T | |
6 | g.52024807T>C | CA138946129 | PKHD1 | c.5003A>G (p.Asp1668Gly) c.4361A>G (p.Asp1454Gly) c.4292A>G (p.Asp1431Gly) c.4928A>G (p.Asp1643Gly) c.4739A>G (p.Asp1580Gly) c.3143A>G (p.Asp1048Gly) n.5279A>G | dbSNP |
6 | g.52024807T>G | CA364430162 | PKHD1 | c.5003A>C (p.Asp1668Ala) c.4361A>C (p.Asp1454Ala) c.4292A>C (p.Asp1431Ala) c.4928A>C (p.Asp1643Ala) c.4739A>C (p.Asp1580Ala) c.3143A>C (p.Asp1048Ala) n.5279A>C | |
6 | g.52024807T= | CA1628646689 | PKHD1 | c.5003A= (p.Asp1668=) c.4361A= (p.Asp1454=) c.4292A= (p.Asp1431=) c.4928A= (p.Asp1643=) c.4739A= (p.Asp1580=) c.3143A= (p.Asp1048=) n.5279A= | |
6 | g.52024808C>A | CA364430164 | PKHD1 | c.5002G>T (p.Asp1668Tyr) c.4360G>T (p.Asp1454Tyr) c.4291G>T (p.Asp1431Tyr) c.4927G>T (p.Asp1643Tyr) c.4738G>T (p.Asp1580Tyr) c.3142G>T (p.Asp1048Tyr) n.5278G>T | |
6 | g.52024808C= | CA1628646694 | PKHD1 | c.5002G= (p.Asp1668=) c.4360G= (p.Asp1454=) c.4291G= (p.Asp1431=) c.4927G= (p.Asp1643=) c.4738G= (p.Asp1580=) c.3142G= (p.Asp1048=) n.5278G= | |
6 | g.52024808C>G | CA364430171 | PKHD1 | c.5002G>C (p.Asp1668His) c.4360G>C (p.Asp1454His) c.4291G>C (p.Asp1431His) c.4927G>C (p.Asp1643His) c.4738G>C (p.Asp1580His) c.3142G>C (p.Asp1048His) n.5278G>C | |
6 | g.52024808C>T | CA3852630 | PKHD1 | c.5002G>A (p.Asp1668Asn) c.4360G>A (p.Asp1454Asn) c.4291G>A (p.Asp1431Asn) c.4927G>A (p.Asp1643Asn) c.4738G>A (p.Asp1580Asn) c.3142G>A (p.Asp1048Asn) n.5278G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.52024809A>C | CA364430172 | PKHD1 | c.5001T>G (p.Asp1667Glu) c.4359T>G (p.Asp1453Glu) c.4290T>G (p.Asp1430Glu) c.4926T>G (p.Asp1642Glu) c.4737T>G (p.Asp1579Glu) c.3141T>G (p.Asp1047Glu) n.5277T>G | |
6 | g.52024809A>G | CA450613871 | PKHD1 | c.5001T>C (p.Asp1667=) c.4359T>C (p.Asp1453=) c.4290T>C (p.Asp1430=) c.4926T>C (p.Asp1642=) c.4737T>C (p.Asp1579=) c.3141T>C (p.Asp1047=) n.5277T>C | |
6 | g.52024809A>T | CA364430174 | PKHD1 | c.5001T>A (p.Asp1667Glu) c.4359T>A (p.Asp1453Glu) c.4290T>A (p.Asp1430Glu) c.4926T>A (p.Asp1642Glu) c.4737T>A (p.Asp1579Glu) c.3141T>A (p.Asp1047Glu) n.5277T>A | |
6 | g.52024810T>A | CA364430177 | PKHD1 | c.5000A>T (p.Asp1667Val) c.4358A>T (p.Asp1453Val) c.4289A>T (p.Asp1430Val) c.4925A>T (p.Asp1642Val) c.4736A>T (p.Asp1579Val) c.3140A>T (p.Asp1047Val) n.5276A>T | |
6 | g.52024810T>C | CA364430179 | PKHD1 | c.5000A>G (p.Asp1667Gly) c.4358A>G (p.Asp1453Gly) c.4289A>G (p.Asp1430Gly) c.4925A>G (p.Asp1642Gly) c.4736A>G (p.Asp1579Gly) c.3140A>G (p.Asp1047Gly) n.5276A>G | |
6 | g.52024810T>G | CA364430183 | PKHD1 | c.5000A>C (p.Asp1667Ala) c.4358A>C (p.Asp1453Ala) c.4289A>C (p.Asp1430Ala) c.4925A>C (p.Asp1642Ala) c.4736A>C (p.Asp1579Ala) c.3140A>C (p.Asp1047Ala) n.5276A>C | |
6 | g.52024811C>A | CA364430185 | PKHD1 | c.4999G>T (p.Asp1667Tyr) c.4357G>T (p.Asp1453Tyr) c.4288G>T (p.Asp1430Tyr) c.4924G>T (p.Asp1642Tyr) c.4735G>T (p.Asp1579Tyr) c.3139G>T (p.Asp1047Tyr) n.5275G>T | dbSNP gnomAD v4 |
6 | g.52024811C= | CA1628646696 | PKHD1 | c.4999G= (p.Asp1667=) c.4357G= (p.Asp1453=) c.4288G= (p.Asp1430=) c.4924G= (p.Asp1642=) c.4735G= (p.Asp1579=) c.3139G= (p.Asp1047=) n.5275G= | |
6 | g.52024811C>G | CA364430186 | PKHD1 | c.4999G>C (p.Asp1667His) c.4357G>C (p.Asp1453His) c.4288G>C (p.Asp1430His) c.4924G>C (p.Asp1642His) c.4735G>C (p.Asp1579His) c.3139G>C (p.Asp1047His) n.5275G>C | |
6 | g.52024811C>T | CA364430187 | PKHD1 | c.4999G>A (p.Asp1667Asn) c.4357G>A (p.Asp1453Asn) c.4288G>A (p.Asp1430Asn) c.4924G>A (p.Asp1642Asn) c.4735G>A (p.Asp1579Asn) c.3139G>A (p.Asp1047Asn) n.5275G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.52024812G>A | CA3852631 | PKHD1 | c.4998C>T (p.Ser1666=) c.4356C>T (p.Ser1452=) c.4287C>T (p.Ser1429=) c.4923C>T (p.Ser1641=) c.4734C>T (p.Ser1578=) c.3138C>T (p.Ser1046=) n.5274C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.52024812G>C | CA364430188 | PKHD1 | c.4998C>G (p.Ser1666Arg) c.4356C>G (p.Ser1452Arg) c.4287C>G (p.Ser1429Arg) c.4923C>G (p.Ser1641Arg) c.4734C>G (p.Ser1578Arg) c.3138C>G (p.Ser1046Arg) n.5274C>G | |
6 | g.52024812G= | CA1628646703 | PKHD1 | c.4998C= (p.Ser1666=) c.4356C= (p.Ser1452=) c.4287C= (p.Ser1429=) c.4923C= (p.Ser1641=) c.4734C= (p.Ser1578=) c.3138C= (p.Ser1046=) n.5274C= | |
6 | g.52024812G>T | CA3852632 | PKHD1 | c.4998C>A (p.Ser1666Arg) c.4356C>A (p.Ser1452Arg) c.4287C>A (p.Ser1429Arg) c.4923C>A (p.Ser1641Arg) c.4734C>A (p.Ser1578Arg) c.3138C>A (p.Ser1046Arg) n.5274C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.52024813C>A | CA364430190 | PKHD1 | c.4997G>T (p.Ser1666Ile) c.4355G>T (p.Ser1452Ile) c.4286G>T (p.Ser1429Ile) c.4922G>T (p.Ser1641Ile) c.4733G>T (p.Ser1578Ile) c.3137G>T (p.Ser1046Ile) n.5273G>T | |
6 | g.52024813C= | CA1628646707 | PKHD1 | c.4997G= (p.Ser1666=) c.4355G= (p.Ser1452=) c.4286G= (p.Ser1429=) c.4922G= (p.Ser1641=) c.4733G= (p.Ser1578=) c.3137G= (p.Ser1046=) n.5273G= | |
6 | g.52024813C>G | CA364430189 | PKHD1 | c.4997G>C (p.Ser1666Thr) c.4355G>C (p.Ser1452Thr) c.4286G>C (p.Ser1429Thr) c.4922G>C (p.Ser1641Thr) c.4733G>C (p.Ser1578Thr) c.3137G>C (p.Ser1046Thr) n.5273G>C | |
6 | g.52024813C>T | CA364430191 | PKHD1 | c.4997G>A (p.Ser1666Asn) c.4355G>A (p.Ser1452Asn) c.4286G>A (p.Ser1429Asn) c.4922G>A (p.Ser1641Asn) c.4733G>A (p.Ser1578Asn) c.3137G>A (p.Ser1046Asn) n.5273G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.52024814T>A | CA364430192 | PKHD1 | c.4996A>T (p.Ser1666Cys) c.4354A>T (p.Ser1452Cys) c.4285A>T (p.Ser1429Cys) c.4921A>T (p.Ser1641Cys) c.4732A>T (p.Ser1578Cys) c.3136A>T (p.Ser1046Cys) n.5272A>T | |
6 | g.52024814T>C | CA364430194 | PKHD1 | c.4996A>G (p.Ser1666Gly) c.4354A>G (p.Ser1452Gly) c.4285A>G (p.Ser1429Gly) c.4921A>G (p.Ser1641Gly) c.4732A>G (p.Ser1578Gly) c.3136A>G (p.Ser1046Gly) n.5272A>G | |
6 | g.52024814T>G | CA364430197 | PKHD1 | c.4996A>C (p.Ser1666Arg) c.4354A>C (p.Ser1452Arg) c.4285A>C (p.Ser1429Arg) c.4921A>C (p.Ser1641Arg) c.4732A>C (p.Ser1578Arg) c.3136A>C (p.Ser1046Arg) n.5272A>C | |
6 | g.52024815C>A | CA364430199 | PKHD1 | c.4995G>T (p.Gln1665His) c.4353G>T (p.Gln1451His) c.4284G>T (p.Gln1428His) c.4920G>T (p.Gln1640His) c.4731G>T (p.Gln1577His) c.3135G>T (p.Gln1045His) n.5271G>T | |
6 | g.52024815C>G | CA364430202 | PKHD1 | c.4995G>C (p.Gln1665His) c.4353G>C (p.Gln1451His) c.4284G>C (p.Gln1428His) c.4920G>C (p.Gln1640His) c.4731G>C (p.Gln1577His) c.3135G>C (p.Gln1045His) n.5271G>C | |
6 | g.52024815C>T | CA450613872 | PKHD1 | c.4995G>A (p.Gln1665=) c.4353G>A (p.Gln1451=) c.4284G>A (p.Gln1428=) c.4920G>A (p.Gln1640=) c.4731G>A (p.Gln1577=) c.3135G>A (p.Gln1045=) n.5271G>A | dbSNP |
6 | g.52024816T>A | CA364430207 | PKHD1 | c.4994A>T (p.Gln1665Leu) c.4352A>T (p.Gln1451Leu) c.4283A>T (p.Gln1428Leu) c.4919A>T (p.Gln1640Leu) c.4730A>T (p.Gln1577Leu) c.3134A>T (p.Gln1045Leu) n.5270A>T | |
6 | g.52024816T>C | CA3852633 | PKHD1 | c.4994A>G (p.Gln1665Arg) c.4352A>G (p.Gln1451Arg) c.4283A>G (p.Gln1428Arg) c.4919A>G (p.Gln1640Arg) c.4730A>G (p.Gln1577Arg) c.3134A>G (p.Gln1045Arg) n.5270A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.52024816T>G | CA364430204 | PKHD1 | c.4994A>C (p.Gln1665Pro) c.4352A>C (p.Gln1451Pro) c.4283A>C (p.Gln1428Pro) c.4919A>C (p.Gln1640Pro) c.4730A>C (p.Gln1577Pro) c.3134A>C (p.Gln1045Pro) n.5270A>C | |
6 | g.52024816T= | CA1628646712 | PKHD1 | c.4994A= (p.Gln1665=) c.4352A= (p.Gln1451=) c.4283A= (p.Gln1428=) c.4919A= (p.Gln1640=) c.4730A= (p.Gln1577=) c.3134A= (p.Gln1045=) n.5270A= | |
6 | g.52024817G>A | CA364430209 | PKHD1 | c.4993C>T (p.Gln1665Ter) c.4351C>T (p.Gln1451Ter) c.4282C>T (p.Gln1428Ter) c.4918C>T (p.Gln1640Ter) c.4729C>T (p.Gln1577Ter) c.3133C>T (p.Gln1045Ter) n.5269C>T | ClinVar dbSNP |
6 | g.52024817G>C | CA364430212 | PKHD1 | c.4993C>G (p.Gln1665Glu) c.4351C>G (p.Gln1451Glu) c.4282C>G (p.Gln1428Glu) c.4918C>G (p.Gln1640Glu) c.4729C>G (p.Gln1577Glu) c.3133C>G (p.Gln1045Glu) n.5269C>G | gnomAD v4 |
6 | g.52024817G>T | CA364430213 | PKHD1 | c.4993C>A (p.Gln1665Lys) c.4351C>A (p.Gln1451Lys) c.4282C>A (p.Gln1428Lys) c.4918C>A (p.Gln1640Lys) c.4729C>A (p.Gln1577Lys) c.3133C>A (p.Gln1045Lys) n.5269C>A | |
6 | g.52024818A>C | CA450613873 | PKHD1 | c.4992T>G (p.Ser1664=) c.4350T>G (p.Ser1450=) c.4281T>G (p.Ser1427=) c.4917T>G (p.Ser1639=) c.4728T>G (p.Ser1576=) c.3132T>G (p.Ser1044=) n.5268T>G | |
6 | g.52024818A>G | CA450613874 | PKHD1 | c.4992T>C (p.Ser1664=) c.4350T>C (p.Ser1450=) c.4281T>C (p.Ser1427=) c.4917T>C (p.Ser1639=) c.4728T>C (p.Ser1576=) c.3132T>C (p.Ser1044=) n.5268T>C | |
6 | g.52024818A>T | CA450613875 | PKHD1 | c.4992T>A (p.Ser1664=) c.4350T>A (p.Ser1450=) c.4281T>A (p.Ser1427=) c.4917T>A (p.Ser1639=) c.4728T>A (p.Ser1576=) c.3132T>A (p.Ser1044=) n.5268T>A | |
6 | g.52024819G>A | CA253009 | PKHD1 | c.4991C>T (p.Ser1664Phe) c.4349C>T (p.Ser1450Phe) c.4280C>T (p.Ser1427Phe) c.4916C>T (p.Ser1639Phe) c.4727C>T (p.Ser1576Phe) c.3131C>T (p.Ser1044Phe) n.5267C>T | ClinVar dbSNP gnomAD v4 |
6 | g.52024819G>C | CA364430222 | PKHD1 | c.4991C>G (p.Ser1664Cys) c.4349C>G (p.Ser1450Cys) c.4280C>G (p.Ser1427Cys) c.4916C>G (p.Ser1639Cys) c.4727C>G (p.Ser1576Cys) c.3131C>G (p.Ser1044Cys) n.5267C>G | COSMIC COSMIC |
6 | g.52024819G= | CA1628646718 | PKHD1 | c.4991C= (p.Ser1664=) c.4349C= (p.Ser1450=) c.4280C= (p.Ser1427=) c.4916C= (p.Ser1639=) c.4727C= (p.Ser1576=) c.3131C= (p.Ser1044=) n.5267C= | |
6 | g.52024819G>T | CA364430224 | PKHD1 | c.4991C>A (p.Ser1664Tyr) c.4349C>A (p.Ser1450Tyr) c.4280C>A (p.Ser1427Tyr) c.4916C>A (p.Ser1639Tyr) c.4727C>A (p.Ser1576Tyr) c.3131C>A (p.Ser1044Tyr) n.5267C>A | |
6 | g.52024820A= | CA1628646725 | PKHD1 | c.4990T= (p.Ser1664=) c.4348T= (p.Ser1450=) c.4279T= (p.Ser1427=) c.4915T= (p.Ser1639=) c.4726T= (p.Ser1576=) c.3130T= (p.Ser1044=) n.5266T= | |
6 | g.52024820A>C | CA364430227 | PKHD1 | c.4990T>G (p.Ser1664Ala) c.4348T>G (p.Ser1450Ala) c.4279T>G (p.Ser1427Ala) c.4915T>G (p.Ser1639Ala) c.4726T>G (p.Ser1576Ala) c.3130T>G (p.Ser1044Ala) n.5266T>G | dbSNP |
6 | g.52024820A>G | CA138946165 | PKHD1 | c.4990T>C (p.Ser1664Pro) c.4348T>C (p.Ser1450Pro) c.4279T>C (p.Ser1427Pro) c.4915T>C (p.Ser1639Pro) c.4726T>C (p.Ser1576Pro) c.3130T>C (p.Ser1044Pro) n.5266T>C | ClinVar dbSNP |
6 | g.52024820A>T | CA364430229 | PKHD1 | c.4990T>A (p.Ser1664Thr) c.4348T>A (p.Ser1450Thr) c.4279T>A (p.Ser1427Thr) c.4915T>A (p.Ser1639Thr) c.4726T>A (p.Ser1576Thr) c.3130T>A (p.Ser1044Thr) n.5266T>A | |
6 | g.52024821_52024824del | CA2679084931 | PKHD1 | c.4987_4990del (p.Ile1663LeufsTer7) c.4345_4348del (p.Ile1449LeufsTer7) c.4276_4279del (p.Ile1426LeufsTer7) c.4912_4915del (p.Ile1638LeufsTer7) c.4723_4726del (p.Ile1575LeufsTer7) c.3127_3130del (p.Ile1043LeufsTer7) n.5263_5266del | gnomAD v4 |
6 | g.52024821A= | CA1628646731 | PKHD1 | c.4989T= (p.Ile1663=) c.4347T= (p.Ile1449=) c.4278T= (p.Ile1426=) c.4914T= (p.Ile1638=) c.4725T= (p.Ile1575=) c.3129T= (p.Ile1043=) n.5265T= | |
6 | g.52024821A>C | CA364430232 | PKHD1 | c.4989T>G (p.Ile1663Met) c.4347T>G (p.Ile1449Met) c.4278T>G (p.Ile1426Met) c.4914T>G (p.Ile1638Met) c.4725T>G (p.Ile1575Met) c.3129T>G (p.Ile1043Met) n.5265T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.52024821A>G | CA450613876 | PKHD1 | c.4989T>C (p.Ile1663=) c.4347T>C (p.Ile1449=) c.4278T>C (p.Ile1426=) c.4914T>C (p.Ile1638=) c.4725T>C (p.Ile1575=) c.3129T>C (p.Ile1043=) n.5265T>C | |
6 | g.52024821A>T | CA450613877 | PKHD1 | c.4989T>A (p.Ile1663=) c.4347T>A (p.Ile1449=) c.4278T>A (p.Ile1426=) c.4914T>A (p.Ile1638=) c.4725T>A (p.Ile1575=) c.3129T>A (p.Ile1043=) n.5265T>A | |
6 | g.52024822A>C | CA364430235 | PKHD1 | c.4988T>G (p.Ile1663Ser) c.4346T>G (p.Ile1449Ser) c.4277T>G (p.Ile1426Ser) c.4913T>G (p.Ile1638Ser) c.4724T>G (p.Ile1575Ser) c.3128T>G (p.Ile1043Ser) n.5264T>G | |
6 | g.52024822A>G | CA364430237 | PKHD1 | c.4988T>C (p.Ile1663Thr) c.4346T>C (p.Ile1449Thr) c.4277T>C (p.Ile1426Thr) c.4913T>C (p.Ile1638Thr) c.4724T>C (p.Ile1575Thr) c.3128T>C (p.Ile1043Thr) n.5264T>C | gnomAD v4 |
6 | g.52024822A>T | CA364430239 | PKHD1 | c.4988T>A (p.Ile1663Asn) c.4346T>A (p.Ile1449Asn) c.4277T>A (p.Ile1426Asn) c.4913T>A (p.Ile1638Asn) c.4724T>A (p.Ile1575Asn) c.3128T>A (p.Ile1043Asn) n.5264T>A | |
6 | g.52024823T>A | CA364430241 | PKHD1 | c.4987A>T (p.Ile1663Phe) c.4345A>T (p.Ile1449Phe) c.4276A>T (p.Ile1426Phe) c.4912A>T (p.Ile1638Phe) c.4723A>T (p.Ile1575Phe) c.3127A>T (p.Ile1043Phe) n.5263A>T | |
6 | g.52024823T>C | CA364430243 | PKHD1 | c.4987A>G (p.Ile1663Val) c.4345A>G (p.Ile1449Val) c.4276A>G (p.Ile1426Val) c.4912A>G (p.Ile1638Val) c.4723A>G (p.Ile1575Val) c.3127A>G (p.Ile1043Val) n.5263A>G | |
6 | g.52024823T>G | CA364430245 | PKHD1 | c.4987A>C (p.Ile1663Leu) c.4345A>C (p.Ile1449Leu) c.4276A>C (p.Ile1426Leu) c.4912A>C (p.Ile1638Leu) c.4723A>C (p.Ile1575Leu) c.3127A>C (p.Ile1043Leu) n.5263A>C | |
6 | g.52024824A>C | CA450613878 | PKHD1 | c.4986T>G (p.Ser1662=) c.4344T>G (p.Ser1448=) c.4275T>G (p.Ser1425=) c.4911T>G (p.Ser1637=) c.4722T>G (p.Ser1574=) c.3126T>G (p.Ser1042=) n.5262T>G | |
6 | g.52024824A>G | CA450613879 | PKHD1 | c.4986T>C (p.Ser1662=) c.4344T>C (p.Ser1448=) c.4275T>C (p.Ser1425=) c.4911T>C (p.Ser1637=) c.4722T>C (p.Ser1574=) c.3126T>C (p.Ser1042=) n.5262T>C | |
6 | g.52024824A>T | CA450613880 | PKHD1 | c.4986T>A (p.Ser1662=) c.4344T>A (p.Ser1448=) c.4275T>A (p.Ser1425=) c.4911T>A (p.Ser1637=) c.4722T>A (p.Ser1574=) c.3126T>A (p.Ser1042=) n.5262T>A | COSMIC COSMIC |
6 | g.52024825G>A | CA364430247 | PKHD1 | c.4985C>T (p.Ser1662Phe) c.4343C>T (p.Ser1448Phe) c.4274C>T (p.Ser1425Phe) c.4910C>T (p.Ser1637Phe) c.4721C>T (p.Ser1574Phe) c.3125C>T (p.Ser1042Phe) n.5261C>T | gnomAD v4 |
6 | g.52024825G>C | CA364430249 | PKHD1 | c.4985C>G (p.Ser1662Cys) c.4343C>G (p.Ser1448Cys) c.4274C>G (p.Ser1425Cys) c.4910C>G (p.Ser1637Cys) c.4721C>G (p.Ser1574Cys) c.3125C>G (p.Ser1042Cys) n.5261C>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.52024825G= | CA1628646733 | PKHD1 | c.4985C= (p.Ser1662=) c.4343C= (p.Ser1448=) c.4274C= (p.Ser1425=) c.4910C= (p.Ser1637=) c.4721C= (p.Ser1574=) c.3125C= (p.Ser1042=) n.5261C= | |
6 | g.52024825G>T | CA364430251 | PKHD1 | c.4985C>A (p.Ser1662Tyr) c.4343C>A (p.Ser1448Tyr) c.4274C>A (p.Ser1425Tyr) c.4910C>A (p.Ser1637Tyr) c.4721C>A (p.Ser1574Tyr) c.3125C>A (p.Ser1042Tyr) n.5261C>A | |
6 | g.52024826A>C | CA364430262 | PKHD1 | c.4984T>G (p.Ser1662Ala) c.4342T>G (p.Ser1448Ala) c.4273T>G (p.Ser1425Ala) c.4909T>G (p.Ser1637Ala) c.4720T>G (p.Ser1574Ala) c.3124T>G (p.Ser1042Ala) n.5260T>G | |
6 | g.52024826A>G | CA364430256 | PKHD1 | c.4984T>C (p.Ser1662Pro) c.4342T>C (p.Ser1448Pro) c.4273T>C (p.Ser1425Pro) c.4909T>C (p.Ser1637Pro) c.4720T>C (p.Ser1574Pro) c.3124T>C (p.Ser1042Pro) n.5260T>C | |
6 | g.52024826A>T | CA364430253 | PKHD1 | c.4984T>A (p.Ser1662Thr) c.4342T>A (p.Ser1448Thr) c.4273T>A (p.Ser1425Thr) c.4909T>A (p.Ser1637Thr) c.4720T>A (p.Ser1574Thr) c.3124T>A (p.Ser1042Thr) n.5260T>A | |
6 | g.52024827G>A | CA3852635 | PKHD1 | c.4983C>T (p.Ile1661=) c.4341C>T (p.Ile1447=) c.4272C>T (p.Ile1424=) c.4908C>T (p.Ile1636=) c.4719C>T (p.Ile1573=) c.3123C>T (p.Ile1041=) n.5259C>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.52024827G>C | CA3852634 | PKHD1 | c.4983C>G (p.Ile1661Met) c.4341C>G (p.Ile1447Met) c.4272C>G (p.Ile1424Met) c.4908C>G (p.Ile1636Met) c.4719C>G (p.Ile1573Met) c.3123C>G (p.Ile1041Met) n.5259C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.52024827G= | CA1628646741 | PKHD1 | c.4983C= (p.Ile1661=) c.4341C= (p.Ile1447=) c.4272C= (p.Ile1424=) c.4908C= (p.Ile1636=) c.4719C= (p.Ile1573=) c.3123C= (p.Ile1041=) n.5259C= | |
6 | g.52024827G>T | CA450613881 | PKHD1 | c.4983C>A (p.Ile1661=) c.4341C>A (p.Ile1447=) c.4272C>A (p.Ile1424=) c.4908C>A (p.Ile1636=) c.4719C>A (p.Ile1573=) c.3123C>A (p.Ile1041=) n.5259C>A | |
6 | g.52024828A>C | CA364430267 | PKHD1 | c.4982T>G (p.Ile1661Ser) c.4340T>G (p.Ile1447Ser) c.4271T>G (p.Ile1424Ser) c.4907T>G (p.Ile1636Ser) c.4718T>G (p.Ile1573Ser) c.3122T>G (p.Ile1041Ser) n.5258T>G | |
6 | g.52024828A>G | CA364430275 | PKHD1 | c.4982T>C (p.Ile1661Thr) c.4340T>C (p.Ile1447Thr) c.4271T>C (p.Ile1424Thr) c.4907T>C (p.Ile1636Thr) c.4718T>C (p.Ile1573Thr) c.3122T>C (p.Ile1041Thr) n.5258T>C | gnomAD v4 |
6 | g.52024828A>T | CA364430280 | PKHD1 | c.4982T>A (p.Ile1661Asn) c.4340T>A (p.Ile1447Asn) c.4271T>A (p.Ile1424Asn) c.4907T>A (p.Ile1636Asn) c.4718T>A (p.Ile1573Asn) c.3122T>A (p.Ile1041Asn) n.5258T>A | |
6 | g.52024829T>A | CA364430282 | PKHD1 | c.4981A>T (p.Ile1661Phe) c.4339A>T (p.Ile1447Phe) c.4270A>T (p.Ile1424Phe) c.4906A>T (p.Ile1636Phe) c.4717A>T (p.Ile1573Phe) c.3121A>T (p.Ile1041Phe) n.5257A>T | gnomAD v4 |
6 | g.52024829T>C | CA364430286 | PKHD1 | c.4981A>G (p.Ile1661Val) c.4339A>G (p.Ile1447Val) c.4270A>G (p.Ile1424Val) c.4906A>G (p.Ile1636Val) c.4717A>G (p.Ile1573Val) c.3121A>G (p.Ile1041Val) n.5257A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.52024829T>G | CA364430288 | PKHD1 | c.4981A>C (p.Ile1661Leu) c.4339A>C (p.Ile1447Leu) c.4270A>C (p.Ile1424Leu) c.4906A>C (p.Ile1636Leu) c.4717A>C (p.Ile1573Leu) c.3121A>C (p.Ile1041Leu) n.5257A>C | dbSNP |
6 | g.52024829T= | CA1628646745 | PKHD1 | c.4981A= (p.Ile1661=) c.4339A= (p.Ile1447=) c.4270A= (p.Ile1424=) c.4906A= (p.Ile1636=) c.4717A= (p.Ile1573=) c.3121A= (p.Ile1041=) n.5257A= | |
6 | g.52024830del | CA450613882 | PKHD1 | c.4980del (p.Ile1661SerfsTer10) c.4338del (p.Ile1447SerfsTer10) c.4269del (p.Ile1424SerfsTer10) c.4905del (p.Ile1636SerfsTer10) c.4716del (p.Ile1573SerfsTer10) c.3120del (p.Ile1041SerfsTer10) n.5256del | COSMIC COSMIC |
6 | g.52024830C>A | CA364430290 | PKHD1 | c.4980G>T (p.Leu1660Phe) c.4338G>T (p.Leu1446Phe) c.4269G>T (p.Leu1423Phe) c.4905G>T (p.Leu1635Phe) c.4716G>T (p.Leu1572Phe) c.3120G>T (p.Leu1040Phe) n.5256G>T | |
6 | g.52024830C= | CA1628646750 | PKHD1 | c.4980G= (p.Leu1660=) c.4338G= (p.Leu1446=) c.4269G= (p.Leu1423=) c.4905G= (p.Leu1635=) c.4716G= (p.Leu1572=) c.3120G= (p.Leu1040=) n.5256G= | |
6 | g.52024830C>G | CA364430291 | PKHD1 | c.4980G>C (p.Leu1660Phe) c.4338G>C (p.Leu1446Phe) c.4269G>C (p.Leu1423Phe) c.4905G>C (p.Leu1635Phe) c.4716G>C (p.Leu1572Phe) c.3120G>C (p.Leu1040Phe) n.5256G>C | |
6 | g.52024830C>T | CA3852636 | PKHD1 | c.4980G>A (p.Leu1660=) c.4338G>A (p.Leu1446=) c.4269G>A (p.Leu1423=) c.4905G>A (p.Leu1635=) c.4716G>A (p.Leu1572=) c.3120G>A (p.Leu1040=) n.5256G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.52024831A>C | CA364430298 | PKHD1 | c.4979T>G (p.Leu1660Trp) c.4337T>G (p.Leu1446Trp) c.4268T>G (p.Leu1423Trp) c.4904T>G (p.Leu1635Trp) c.4715T>G (p.Leu1572Trp) c.3119T>G (p.Leu1040Trp) n.5255T>G | |
6 | g.52024831A>G | CA364430300 | PKHD1 | c.4979T>C (p.Leu1660Ser) c.4337T>C (p.Leu1446Ser) c.4268T>C (p.Leu1423Ser) c.4904T>C (p.Leu1635Ser) c.4715T>C (p.Leu1572Ser) c.3119T>C (p.Leu1040Ser) n.5255T>C | |
6 | g.52024831A>T | CA364430301 | PKHD1 | c.4979T>A (p.Leu1660Ter) c.4337T>A (p.Leu1446Ter) c.4268T>A (p.Leu1423Ter) c.4904T>A (p.Leu1635Ter) c.4715T>A (p.Leu1572Ter) c.3119T>A (p.Leu1040Ter) n.5255T>A | |
6 | g.52024832A>C | CA364430302 | PKHD1 | c.4978T>G (p.Leu1660Val) c.4336T>G (p.Leu1446Val) c.4267T>G (p.Leu1423Val) c.4903T>G (p.Leu1635Val) c.4714T>G (p.Leu1572Val) c.3118T>G (p.Leu1040Val) n.5254T>G | |
6 | g.52024832A>G | CA450613883 | PKHD1 | c.4978T>C (p.Leu1660=) c.4336T>C (p.Leu1446=) c.4267T>C (p.Leu1423=) c.4903T>C (p.Leu1635=) c.4714T>C (p.Leu1572=) c.3118T>C (p.Leu1040=) n.5254T>C | |
6 | g.52024832A>T | CA364430303 | PKHD1 | c.4978T>A (p.Leu1660Met) c.4336T>A (p.Leu1446Met) c.4267T>A (p.Leu1423Met) c.4903T>A (p.Leu1635Met) c.4714T>A (p.Leu1572Met) c.3118T>A (p.Leu1040Met) n.5254T>A | |
6 | g.52024833T>A | CA364430305 | PKHD1 | c.4977A>T (p.Glu1659Asp) c.4335A>T (p.Glu1445Asp) c.4266A>T (p.Glu1422Asp) c.4902A>T (p.Glu1634Asp) c.4713A>T (p.Glu1571Asp) c.3117A>T (p.Glu1039Asp) n.5253A>T | gnomAD v4 |
6 | g.52024833T>C | CA450613884 | PKHD1 | c.4977A>G (p.Glu1659=) c.4335A>G (p.Glu1445=) c.4266A>G (p.Glu1422=) c.4902A>G (p.Glu1634=) c.4713A>G (p.Glu1571=) c.3117A>G (p.Glu1039=) n.5253A>G | ClinVar dbSNP |
6 | g.52024833T>G | CA364430306 | PKHD1 | c.4977A>C (p.Glu1659Asp) c.4335A>C (p.Glu1445Asp) c.4266A>C (p.Glu1422Asp) c.4902A>C (p.Glu1634Asp) c.4713A>C (p.Glu1571Asp) c.3117A>C (p.Glu1039Asp) n.5253A>C | |
6 | g.52024834T>A | CA364430308 | PKHD1 | c.4976A>T (p.Glu1659Val) c.4334A>T (p.Glu1445Val) c.4265A>T (p.Glu1422Val) c.4901A>T (p.Glu1634Val) c.4712A>T (p.Glu1571Val) c.3116A>T (p.Glu1039Val) n.5252A>T | |
6 | g.52024834T>C | CA364430310 | PKHD1 | c.4976A>G (p.Glu1659Gly) c.4334A>G (p.Glu1445Gly) c.4265A>G (p.Glu1422Gly) c.4901A>G (p.Glu1634Gly) c.4712A>G (p.Glu1571Gly) c.3116A>G (p.Glu1039Gly) n.5252A>G | |
6 | g.52024834T>G | CA364430312 | PKHD1 | c.4976A>C (p.Glu1659Ala) c.4334A>C (p.Glu1445Ala) c.4265A>C (p.Glu1422Ala) c.4901A>C (p.Glu1634Ala) c.4712A>C (p.Glu1571Ala) c.3116A>C (p.Glu1039Ala) n.5252A>C | |
6 | g.52024835C>A | CA364430315 | PKHD1 | c.4975G>T (p.Glu1659Ter) c.4333G>T (p.Glu1445Ter) c.4264G>T (p.Glu1422Ter) c.4900G>T (p.Glu1634Ter) c.4711G>T (p.Glu1571Ter) c.3115G>T (p.Glu1039Ter) n.5251G>T | |
6 | g.52024835C>G | CA364430317 | PKHD1 | c.4975G>C (p.Glu1659Gln) c.4333G>C (p.Glu1445Gln) c.4264G>C (p.Glu1422Gln) c.4900G>C (p.Glu1634Gln) c.4711G>C (p.Glu1571Gln) c.3115G>C (p.Glu1039Gln) n.5251G>C | |
6 | g.52024835C>T | CA364430318 | PKHD1 | c.4975G>A (p.Glu1659Lys) c.4333G>A (p.Glu1445Lys) c.4264G>A (p.Glu1422Lys) c.4900G>A (p.Glu1634Lys) c.4711G>A (p.Glu1571Lys) c.3115G>A (p.Glu1039Lys) n.5251G>A | |
6 | g.52024836T>A | CA450613885 | PKHD1 | c.4974A>T (p.Pro1658=) c.4332A>T (p.Pro1444=) c.4263A>T (p.Pro1421=) c.4899A>T (p.Pro1633=) c.4710A>T (p.Pro1570=) c.3114A>T (p.Pro1038=) n.5250A>T | |
6 | g.52024836T>C | CA450613886 | PKHD1 | c.4974A>G (p.Pro1658=) c.4332A>G (p.Pro1444=) c.4263A>G (p.Pro1421=) c.4899A>G (p.Pro1633=) c.4710A>G (p.Pro1570=) c.3114A>G (p.Pro1038=) n.5250A>G | ClinVar |
6 | g.52024836T>G | CA450613887 | PKHD1 | c.4974A>C (p.Pro1658=) c.4332A>C (p.Pro1444=) c.4263A>C (p.Pro1421=) c.4899A>C (p.Pro1633=) c.4710A>C (p.Pro1570=) c.3114A>C (p.Pro1038=) n.5250A>C | |
6 | g.52024837G>A | CA364430321 | PKHD1 | c.4973C>T (p.Pro1658Leu) c.4331C>T (p.Pro1444Leu) c.4262C>T (p.Pro1421Leu) c.4898C>T (p.Pro1633Leu) c.4709C>T (p.Pro1570Leu) c.3113C>T (p.Pro1038Leu) n.5249C>T | ClinVar dbSNP |
6 | g.52024837G>C | CA364430322 | PKHD1 | c.4973C>G (p.Pro1658Arg) c.4331C>G (p.Pro1444Arg) c.4262C>G (p.Pro1421Arg) c.4898C>G (p.Pro1633Arg) c.4709C>G (p.Pro1570Arg) c.3113C>G (p.Pro1038Arg) n.5249C>G | |
6 | g.52024837G= | CA1628646759 | PKHD1 | c.4973C= (p.Pro1658=) c.4331C= (p.Pro1444=) c.4262C= (p.Pro1421=) c.4898C= (p.Pro1633=) c.4709C= (p.Pro1570=) c.3113C= (p.Pro1038=) n.5249C= | |
6 | g.52024837G>T | CA364430324 | PKHD1 | c.4973C>A (p.Pro1658Gln) c.4331C>A (p.Pro1444Gln) c.4262C>A (p.Pro1421Gln) c.4898C>A (p.Pro1633Gln) c.4709C>A (p.Pro1570Gln) c.3113C>A (p.Pro1038Gln) n.5249C>A | |
6 | g.52024838G>A | CA364430330 | PKHD1 | c.4972C>T (p.Pro1658Ser) c.4330C>T (p.Pro1444Ser) c.4261C>T (p.Pro1421Ser) c.4897C>T (p.Pro1633Ser) c.4708C>T (p.Pro1570Ser) c.3112C>T (p.Pro1038Ser) n.5248C>T | |
6 | g.52024838G>C | CA364430328 | PKHD1 | c.4972C>G (p.Pro1658Ala) c.4330C>G (p.Pro1444Ala) c.4261C>G (p.Pro1421Ala) c.4897C>G (p.Pro1633Ala) c.4708C>G (p.Pro1570Ala) c.3112C>G (p.Pro1038Ala) n.5248C>G | |
6 | g.52024838G>T | CA364430326 | PKHD1 | c.4972C>A (p.Pro1658Thr) c.4330C>A (p.Pro1444Thr) c.4261C>A (p.Pro1421Thr) c.4897C>A (p.Pro1633Thr) c.4708C>A (p.Pro1570Thr) c.3112C>A (p.Pro1038Thr) n.5248C>A | |
6 | g.52024839G>A | CA450613888 | PKHD1 | c.4971C>T (p.Thr1657=) c.4329C>T (p.Thr1443=) c.4260C>T (p.Thr1420=) c.4896C>T (p.Thr1632=) c.4707C>T (p.Thr1569=) c.3111C>T (p.Thr1037=) n.5247C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.52024839G>C | CA450613889 | PKHD1 | c.4971C>G (p.Thr1657=) c.4329C>G (p.Thr1443=) c.4260C>G (p.Thr1420=) c.4896C>G (p.Thr1632=) c.4707C>G (p.Thr1569=) c.3111C>G (p.Thr1037=) n.5247C>G | dbSNP |
6 | g.52024839G= | CA1628646765 | PKHD1 | c.4971C= (p.Thr1657=) c.4329C= (p.Thr1443=) c.4260C= (p.Thr1420=) c.4896C= (p.Thr1632=) c.4707C= (p.Thr1569=) c.3111C= (p.Thr1037=) n.5247C= | |
6 | g.52024839G>T | CA450613890 | PKHD1 | c.4971C>A (p.Thr1657=) c.4329C>A (p.Thr1443=) c.4260C>A (p.Thr1420=) c.4896C>A (p.Thr1632=) c.4707C>A (p.Thr1569=) c.3111C>A (p.Thr1037=) n.5247C>A | |
6 | g.52024840G>A | CA364430331 | PKHD1 | c.4970C>T (p.Thr1657Ile) c.4328C>T (p.Thr1443Ile) c.4259C>T (p.Thr1420Ile) c.4895C>T (p.Thr1632Ile) c.4706C>T (p.Thr1569Ile) c.3110C>T (p.Thr1037Ile) n.5246C>T | |
6 | g.52024840G>C | CA364430333 | PKHD1 | c.4970C>G (p.Thr1657Ser) c.4328C>G (p.Thr1443Ser) c.4259C>G (p.Thr1420Ser) c.4895C>G (p.Thr1632Ser) c.4706C>G (p.Thr1569Ser) c.3110C>G (p.Thr1037Ser) n.5246C>G | |
6 | g.52024840G>T | CA364430334 | PKHD1 | c.4970C>A (p.Thr1657Asn) c.4328C>A (p.Thr1443Asn) c.4259C>A (p.Thr1420Asn) c.4895C>A (p.Thr1632Asn) c.4706C>A (p.Thr1569Asn) c.3110C>A (p.Thr1037Asn) n.5246C>A | |
6 | g.52024841T>A | CA364430336 | PKHD1 | c.4969A>T (p.Thr1657Ser) c.4327A>T (p.Thr1443Ser) c.4258A>T (p.Thr1420Ser) c.4894A>T (p.Thr1632Ser) c.4705A>T (p.Thr1569Ser) c.3109A>T (p.Thr1037Ser) n.5245A>T | |
6 | g.52024841T>C | CA364430337 | PKHD1 | c.4969A>G (p.Thr1657Ala) c.4327A>G (p.Thr1443Ala) c.4258A>G (p.Thr1420Ala) c.4894A>G (p.Thr1632Ala) c.4705A>G (p.Thr1569Ala) c.3109A>G (p.Thr1037Ala) n.5245A>G | |
6 | g.52024841T>G | CA364430339 | PKHD1 | c.4969A>C (p.Thr1657Pro) c.4327A>C (p.Thr1443Pro) c.4258A>C (p.Thr1420Pro) c.4894A>C (p.Thr1632Pro) c.4705A>C (p.Thr1569Pro) c.3109A>C (p.Thr1037Pro) n.5245A>C | |
6 | g.52024842A>C | CA364430343 | PKHD1 | c.4968T>G (p.Phe1656Leu) c.4326T>G (p.Phe1442Leu) c.4257T>G (p.Phe1419Leu) c.4893T>G (p.Phe1631Leu) c.4704T>G (p.Phe1568Leu) c.3108T>G (p.Phe1036Leu) n.5244T>G | |
6 | g.52024842A>G | CA450613891 | PKHD1 | c.4968T>C (p.Phe1656=) c.4326T>C (p.Phe1442=) c.4257T>C (p.Phe1419=) c.4893T>C (p.Phe1631=) c.4704T>C (p.Phe1568=) c.3108T>C (p.Phe1036=) n.5244T>C | |
6 | g.52024842A>T | CA364430341 | PKHD1 | c.4968T>A (p.Phe1656Leu) c.4326T>A (p.Phe1442Leu) c.4257T>A (p.Phe1419Leu) c.4893T>A (p.Phe1631Leu) c.4704T>A (p.Phe1568Leu) c.3108T>A (p.Phe1036Leu) n.5244T>A | |
6 | g.52024843A>C | CA364430347 | PKHD1 | c.4967T>G (p.Phe1656Cys) c.4325T>G (p.Phe1442Cys) c.4256T>G (p.Phe1419Cys) c.4892T>G (p.Phe1631Cys) c.4703T>G (p.Phe1568Cys) c.3107T>G (p.Phe1036Cys) n.5243T>G | |
6 | g.52024843A>G | CA364430349 | PKHD1 | c.4967T>C (p.Phe1656Ser) c.4325T>C (p.Phe1442Ser) c.4256T>C (p.Phe1419Ser) c.4892T>C (p.Phe1631Ser) c.4703T>C (p.Phe1568Ser) c.3107T>C (p.Phe1036Ser) n.5243T>C | |
6 | g.52024843A>T | CA364430351 | PKHD1 | c.4967T>A (p.Phe1656Tyr) c.4325T>A (p.Phe1442Tyr) c.4256T>A (p.Phe1419Tyr) c.4892T>A (p.Phe1631Tyr) c.4703T>A (p.Phe1568Tyr) c.3107T>A (p.Phe1036Tyr) n.5243T>A | |
6 | g.52024844A>C | CA364430354 | PKHD1 | c.4966T>G (p.Phe1656Val) c.4324T>G (p.Phe1442Val) c.4255T>G (p.Phe1419Val) c.4891T>G (p.Phe1631Val) c.4702T>G (p.Phe1568Val) c.3106T>G (p.Phe1036Val) n.5242T>G | |
6 | g.52024844A>G | CA364430356 | PKHD1 | c.4966T>C (p.Phe1656Leu) c.4324T>C (p.Phe1442Leu) c.4255T>C (p.Phe1419Leu) c.4891T>C (p.Phe1631Leu) c.4702T>C (p.Phe1568Leu) c.3106T>C (p.Phe1036Leu) n.5242T>C | gnomAD v4 |
6 | g.52024844A>T | CA364430358 | PKHD1 | c.4966T>A (p.Phe1656Ile) c.4324T>A (p.Phe1442Ile) c.4255T>A (p.Phe1419Ile) c.4891T>A (p.Phe1631Ile) c.4702T>A (p.Phe1568Ile) c.3106T>A (p.Phe1036Ile) n.5242T>A | |
6 | g.52024845G>A | CA450613892 | PKHD1 | c.4965C>T (p.Ala1655=) c.4323C>T (p.Ala1441=) c.4254C>T (p.Ala1418=) c.4890C>T (p.Ala1630=) c.4701C>T (p.Ala1567=) c.3105C>T (p.Ala1035=) n.5241C>T | |
6 | g.52024845G>C | CA450613893 | PKHD1 | c.4965C>G (p.Ala1655=) c.4323C>G (p.Ala1441=) c.4254C>G (p.Ala1418=) c.4890C>G (p.Ala1630=) c.4701C>G (p.Ala1567=) c.3105C>G (p.Ala1035=) n.5241C>G | |
6 | g.52024845G>T | CA450613894 | PKHD1 | c.4965C>A (p.Ala1655=) c.4323C>A (p.Ala1441=) c.4254C>A (p.Ala1418=) c.4890C>A (p.Ala1630=) c.4701C>A (p.Ala1567=) c.3105C>A (p.Ala1035=) n.5241C>A | |
6 | g.52024846G>A | CA364430364 | PKHD1 | c.4964C>T (p.Ala1655Val) c.4322C>T (p.Ala1441Val) c.4253C>T (p.Ala1418Val) c.4889C>T (p.Ala1630Val) c.4700C>T (p.Ala1567Val) c.3104C>T (p.Ala1035Val) n.5240C>T | gnomAD v4 |
6 | g.52024846G>C | CA364430360 | PKHD1 | c.4964C>G (p.Ala1655Gly) c.4322C>G (p.Ala1441Gly) c.4253C>G (p.Ala1418Gly) c.4889C>G (p.Ala1630Gly) c.4700C>G (p.Ala1567Gly) c.3104C>G (p.Ala1035Gly) n.5240C>G | |
6 | g.52024846G>T | CA364430363 | PKHD1 | c.4964C>A (p.Ala1655Asp) c.4322C>A (p.Ala1441Asp) c.4253C>A (p.Ala1418Asp) c.4889C>A (p.Ala1630Asp) c.4700C>A (p.Ala1567Asp) c.3104C>A (p.Ala1035Asp) n.5240C>A | |
6 | g.52024847C>A | CA364430367 | PKHD1 | c.4963G>T (p.Ala1655Ser) c.4321G>T (p.Ala1441Ser) c.4252G>T (p.Ala1418Ser) c.4888G>T (p.Ala1630Ser) c.4699G>T (p.Ala1567Ser) c.3103G>T (p.Ala1035Ser) n.5239G>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.52024847C= | CA1628646768 | PKHD1 | c.4963G= (p.Ala1655=) c.4321G= (p.Ala1441=) c.4252G= (p.Ala1418=) c.4888G= (p.Ala1630=) c.4699G= (p.Ala1567=) c.3103G= (p.Ala1035=) n.5239G= | |
6 | g.52024847C>G | CA364430369 | PKHD1 | c.4963G>C (p.Ala1655Pro) c.4321G>C (p.Ala1441Pro) c.4252G>C (p.Ala1418Pro) c.4888G>C (p.Ala1630Pro) c.4699G>C (p.Ala1567Pro) c.3103G>C (p.Ala1035Pro) n.5239G>C | |
6 | g.52024847C>T | CA364430372 | PKHD1 | c.4963G>A (p.Ala1655Thr) c.4321G>A (p.Ala1441Thr) c.4252G>A (p.Ala1418Thr) c.4888G>A (p.Ala1630Thr) c.4699G>A (p.Ala1567Thr) c.3103G>A (p.Ala1035Thr) n.5239G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.52024848C>A | CA364430375 | PKHD1 | c.4962G>T (p.Lys1654Asn) c.4320G>T (p.Lys1440Asn) c.4251G>T (p.Lys1417Asn) c.4887G>T (p.Lys1629Asn) c.4698G>T (p.Lys1566Asn) c.3102G>T (p.Lys1034Asn) n.5238G>T | dbSNP |
6 | g.52024848C= | CA1628646771 | PKHD1 | c.4962G= (p.Lys1654=) c.4320G= (p.Lys1440=) c.4251G= (p.Lys1417=) c.4887G= (p.Lys1629=) c.4698G= (p.Lys1566=) c.3102G= (p.Lys1034=) n.5238G= | |
6 | g.52024848C>G | CA364430376 | PKHD1 | c.4962G>C (p.Lys1654Asn) c.4320G>C (p.Lys1440Asn) c.4251G>C (p.Lys1417Asn) c.4887G>C (p.Lys1629Asn) c.4698G>C (p.Lys1566Asn) c.3102G>C (p.Lys1034Asn) n.5238G>C | |
6 | g.52024848C>T | CA450613895 | PKHD1 | c.4962G>A (p.Lys1654=) c.4320G>A (p.Lys1440=) c.4251G>A (p.Lys1417=) c.4887G>A (p.Lys1629=) c.4698G>A (p.Lys1566=) c.3102G>A (p.Lys1034=) n.5238G>A | dbSNP |
6 | g.52024849T>A | CA364430379 | PKHD1 | c.4961A>T (p.Lys1654Met) c.4319A>T (p.Lys1440Met) c.4250A>T (p.Lys1417Met) c.4886A>T (p.Lys1629Met) c.4697A>T (p.Lys1566Met) c.3101A>T (p.Lys1034Met) n.5237A>T | |
6 | g.52024849T>C | CA364430381 | PKHD1 | c.4961A>G (p.Lys1654Arg) c.4319A>G (p.Lys1440Arg) c.4250A>G (p.Lys1417Arg) c.4886A>G (p.Lys1629Arg) c.4697A>G (p.Lys1566Arg) c.3101A>G (p.Lys1034Arg) n.5237A>G | |
6 | g.52024849T>G | CA364430384 | PKHD1 | c.4961A>C (p.Lys1654Thr) c.4319A>C (p.Lys1440Thr) c.4250A>C (p.Lys1417Thr) c.4886A>C (p.Lys1629Thr) c.4697A>C (p.Lys1566Thr) c.3101A>C (p.Lys1034Thr) n.5237A>C | COSMIC COSMIC |
6 | g.52024850T>A | CA364430386 | PKHD1 | c.4960A>T (p.Lys1654Ter) c.4318A>T (p.Lys1440Ter) c.4249A>T (p.Lys1417Ter) c.4885A>T (p.Lys1629Ter) c.4696A>T (p.Lys1566Ter) c.3100A>T (p.Lys1034Ter) n.5236A>T | |
6 | g.52024850T>C | CA364430388 | PKHD1 | c.4960A>G (p.Lys1654Glu) c.4318A>G (p.Lys1440Glu) c.4249A>G (p.Lys1417Glu) c.4885A>G (p.Lys1629Glu) c.4696A>G (p.Lys1566Glu) c.3100A>G (p.Lys1034Glu) n.5236A>G | |
6 | g.52024850T>G | CA364430390 | PKHD1 | c.4960A>C (p.Lys1654Gln) c.4318A>C (p.Lys1440Gln) c.4249A>C (p.Lys1417Gln) c.4885A>C (p.Lys1629Gln) c.4696A>C (p.Lys1566Gln) c.3100A>C (p.Lys1034Gln) n.5236A>C | |
6 | g.52024851G>A | CA450613896 | PKHD1 | c.4959C>T (p.Asn1653=) c.4317C>T (p.Asn1439=) c.4248C>T (p.Asn1416=) c.4884C>T (p.Asn1628=) c.4695C>T (p.Asn1565=) c.3099C>T (p.Asn1033=) n.5235C>T | ClinVar dbSNP |
6 | g.52024851G>C | CA364430393 | PKHD1 | c.4959C>G (p.Asn1653Lys) c.4317C>G (p.Asn1439Lys) c.4248C>G (p.Asn1416Lys) c.4884C>G (p.Asn1628Lys) c.4695C>G (p.Asn1565Lys) c.3099C>G (p.Asn1033Lys) n.5235C>G | |
6 | g.52024851G>T | CA364430395 | PKHD1 | c.4959C>A (p.Asn1653Lys) c.4317C>A (p.Asn1439Lys) c.4248C>A (p.Asn1416Lys) c.4884C>A (p.Asn1628Lys) c.4695C>A (p.Asn1565Lys) c.3099C>A (p.Asn1033Lys) n.5235C>A | |
6 | g.52024852T>A | CA364430399 | PKHD1 | c.4958A>T (p.Asn1653Ile) c.4316A>T (p.Asn1439Ile) c.4247A>T (p.Asn1416Ile) c.4883A>T (p.Asn1628Ile) c.4694A>T (p.Asn1565Ile) c.3098A>T (p.Asn1033Ile) n.5234A>T | |
6 | g.52024852T>C | CA364430403 | PKHD1 | c.4958A>G (p.Asn1653Ser) c.4316A>G (p.Asn1439Ser) c.4247A>G (p.Asn1416Ser) c.4883A>G (p.Asn1628Ser) c.4694A>G (p.Asn1565Ser) c.3098A>G (p.Asn1033Ser) n.5234A>G | dbSNP gnomAD v4 |
6 | g.52024852T>G | CA364430402 | PKHD1 | c.4958A>C (p.Asn1653Thr) c.4316A>C (p.Asn1439Thr) c.4247A>C (p.Asn1416Thr) c.4883A>C (p.Asn1628Thr) c.4694A>C (p.Asn1565Thr) c.3098A>C (p.Asn1033Thr) n.5234A>C | |
6 | g.52024852T= | CA1628646774 | PKHD1 | c.4958A= (p.Asn1653=) c.4316A= (p.Asn1439=) c.4247A= (p.Asn1416=) c.4883A= (p.Asn1628=) c.4694A= (p.Asn1565=) c.3098A= (p.Asn1033=) n.5234A= | |
6 | g.52024853T>A | CA364430406 | PKHD1 | c.4957A>T (p.Asn1653Tyr) c.4315A>T (p.Asn1439Tyr) c.4246A>T (p.Asn1416Tyr) c.4882A>T (p.Asn1628Tyr) c.4693A>T (p.Asn1565Tyr) c.3097A>T (p.Asn1033Tyr) n.5233A>T | |
6 | g.52024853T>C | CA364430408 | PKHD1 | c.4957A>G (p.Asn1653Asp) c.4315A>G (p.Asn1439Asp) c.4246A>G (p.Asn1416Asp) c.4882A>G (p.Asn1628Asp) c.4693A>G (p.Asn1565Asp) c.3097A>G (p.Asn1033Asp) n.5233A>G | |
6 | g.52024853T>G | CA364430409 | PKHD1 | c.4957A>C (p.Asn1653His) c.4315A>C (p.Asn1439His) c.4246A>C (p.Asn1416His) c.4882A>C (p.Asn1628His) c.4693A>C (p.Asn1565His) c.3097A>C (p.Asn1033His) n.5233A>C | |
6 | g.52024854A= | CA1628646776 | PKHD1 | c.4956T= (p.Tyr1652=) c.4314T= (p.Tyr1438=) c.4245T= (p.Tyr1415=) c.4881T= (p.Tyr1627=) c.4692T= (p.Tyr1564=) c.3096T= (p.Tyr1032=) n.5232T= | |
6 | g.52024854A>C | CA364430411 | PKHD1 | c.4956T>G (p.Tyr1652Ter) c.4314T>G (p.Tyr1438Ter) c.4245T>G (p.Tyr1415Ter) c.4881T>G (p.Tyr1627Ter) c.4692T>G (p.Tyr1564Ter) c.3096T>G (p.Tyr1032Ter) n.5232T>G | |
6 | g.52024854A>G | CA3852637 | PKHD1 | c.4956T>C (p.Tyr1652=) c.4314T>C (p.Tyr1438=) c.4245T>C (p.Tyr1415=) c.4881T>C (p.Tyr1627=) c.4692T>C (p.Tyr1564=) c.3096T>C (p.Tyr1032=) n.5232T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.52024854A>T | CA364430415 | PKHD1 | c.4956T>A (p.Tyr1652Ter) c.4314T>A (p.Tyr1438Ter) c.4245T>A (p.Tyr1415Ter) c.4881T>A (p.Tyr1627Ter) c.4692T>A (p.Tyr1564Ter) c.3096T>A (p.Tyr1032Ter) n.5232T>A | |
6 | g.52024855T>A | CA364430417 | PKHD1 | c.4955A>T (p.Tyr1652Phe) c.4313A>T (p.Tyr1438Phe) c.4244A>T (p.Tyr1415Phe) c.4880A>T (p.Tyr1627Phe) c.4691A>T (p.Tyr1564Phe) c.3095A>T (p.Tyr1032Phe) n.5231A>T | |
6 | g.52024855T>C | CA364430420 | PKHD1 | c.4955A>G (p.Tyr1652Cys) c.4313A>G (p.Tyr1438Cys) c.4244A>G (p.Tyr1415Cys) c.4880A>G (p.Tyr1627Cys) c.4691A>G (p.Tyr1564Cys) c.3095A>G (p.Tyr1032Cys) n.5231A>G | gnomAD v4 |
6 | g.52024855T>G | CA364430423 | PKHD1 | c.4955A>C (p.Tyr1652Ser) c.4313A>C (p.Tyr1438Ser) c.4244A>C (p.Tyr1415Ser) c.4880A>C (p.Tyr1627Ser) c.4691A>C (p.Tyr1564Ser) c.3095A>C (p.Tyr1032Ser) n.5231A>C | |
6 | g.52024856A>C | CA364430430 | PKHD1 | c.4954T>G (p.Tyr1652Asp) c.4312T>G (p.Tyr1438Asp) c.4243T>G (p.Tyr1415Asp) c.4879T>G (p.Tyr1627Asp) c.4690T>G (p.Tyr1564Asp) c.3094T>G (p.Tyr1032Asp) n.5230T>G | |
6 | g.52024856A>G | CA364430432 | PKHD1 | c.4954T>C (p.Tyr1652His) c.4312T>C (p.Tyr1438His) c.4243T>C (p.Tyr1415His) c.4879T>C (p.Tyr1627His) c.4690T>C (p.Tyr1564His) c.3094T>C (p.Tyr1032His) n.5230T>C | |
6 | g.52024856A>T | CA364430434 | PKHD1 | c.4954T>A (p.Tyr1652Asn) c.4312T>A (p.Tyr1438Asn) c.4243T>A (p.Tyr1415Asn) c.4879T>A (p.Tyr1627Asn) c.4690T>A (p.Tyr1564Asn) c.3094T>A (p.Tyr1032Asn) n.5230T>A | |
6 | g.52024857A>C | CA450613897 | PKHD1 | c.4953T>G (p.Gly1651=) c.4311T>G (p.Gly1437=) c.4242T>G (p.Gly1414=) c.4878T>G (p.Gly1626=) c.4689T>G (p.Gly1563=) c.3093T>G (p.Gly1031=) n.5229T>G | |
6 | g.52024857A>G | CA450613898 | PKHD1 | c.4953T>C (p.Gly1651=) c.4311T>C (p.Gly1437=) c.4242T>C (p.Gly1414=) c.4878T>C (p.Gly1626=) c.4689T>C (p.Gly1563=) c.3093T>C (p.Gly1031=) n.5229T>C | |
6 | g.52024857A>T | CA450613899 | PKHD1 | c.4953T>A (p.Gly1651=) c.4311T>A (p.Gly1437=) c.4242T>A (p.Gly1414=) c.4878T>A (p.Gly1626=) c.4689T>A (p.Gly1563=) c.3093T>A (p.Gly1031=) n.5229T>A | |
6 | g.52024858C>A | CA364430440 | PKHD1 | c.4952G>T (p.Gly1651Val) c.4310G>T (p.Gly1437Val) c.4241G>T (p.Gly1414Val) c.4877G>T (p.Gly1626Val) c.4688G>T (p.Gly1563Val) c.3092G>T (p.Gly1031Val) n.5228G>T | |
6 | g.52024858C= | CA1628646784 | PKHD1 | c.4952G= (p.Gly1651=) c.4310G= (p.Gly1437=) c.4241G= (p.Gly1414=) c.4877G= (p.Gly1626=) c.4688G= (p.Gly1563=) c.3092G= (p.Gly1031=) n.5228G= | |
6 | g.52024858C>G | CA364430439 | PKHD1 | c.4952G>C (p.Gly1651Ala) c.4310G>C (p.Gly1437Ala) c.4241G>C (p.Gly1414Ala) c.4877G>C (p.Gly1626Ala) c.4688G>C (p.Gly1563Ala) c.3092G>C (p.Gly1031Ala) n.5228G>C | |
6 | g.52024858C>T | CA364430436 | PKHD1 | c.4952G>A (p.Gly1651Asp) c.4310G>A (p.Gly1437Asp) c.4241G>A (p.Gly1414Asp) c.4877G>A (p.Gly1626Asp) c.4688G>A (p.Gly1563Asp) c.3092G>A (p.Gly1031Asp) n.5228G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.52024859del | CA2679084932 | PKHD1 | c.4952del (p.Gly1651ValfsTer10) c.4310del (p.Gly1437ValfsTer10) c.4241del (p.Gly1414ValfsTer10) c.4877del (p.Gly1626ValfsTer10) c.4688del (p.Gly1563ValfsTer10) c.3092del (p.Gly1031ValfsTer10) n.5228del | gnomAD v4 |
6 | g.52024859C>A | CA364430443 | PKHD1 | c.4951G>T (p.Gly1651Cys) c.4309G>T (p.Gly1437Cys) c.4240G>T (p.Gly1414Cys) c.4876G>T (p.Gly1626Cys) c.4687G>T (p.Gly1563Cys) c.3091G>T (p.Gly1031Cys) n.5227G>T | gnomAD v4 |
6 | g.52024859C>G | CA364430445 | PKHD1 | c.4951G>C (p.Gly1651Arg) c.4309G>C (p.Gly1437Arg) c.4240G>C (p.Gly1414Arg) c.4876G>C (p.Gly1626Arg) c.4687G>C (p.Gly1563Arg) c.3091G>C (p.Gly1031Arg) n.5227G>C | |
6 | g.52024859C>T | CA364430447 | PKHD1 | c.4951G>A (p.Gly1651Ser) c.4309G>A (p.Gly1437Ser) c.4240G>A (p.Gly1414Ser) c.4876G>A (p.Gly1626Ser) c.4687G>A (p.Gly1563Ser) c.3091G>A (p.Gly1031Ser) n.5227G>A | |
6 | g.52024860A>C | CA364430449 | PKHD1 | c.4950T>G (p.Ile1650Met) c.4308T>G (p.Ile1436Met) c.4239T>G (p.Ile1413Met) c.4875T>G (p.Ile1625Met) c.4686T>G (p.Ile1562Met) c.3090T>G (p.Ile1030Met) n.5226T>G | |
6 | g.52024860A>G | CA450613900 | PKHD1 | c.4950T>C (p.Ile1650=) c.4308T>C (p.Ile1436=) c.4239T>C (p.Ile1413=) c.4875T>C (p.Ile1625=) c.4686T>C (p.Ile1562=) c.3090T>C (p.Ile1030=) n.5226T>C | |
6 | g.52024860A>T | CA450613901 | PKHD1 | c.4950T>A (p.Ile1650=) c.4308T>A (p.Ile1436=) c.4239T>A (p.Ile1413=) c.4875T>A (p.Ile1625=) c.4686T>A (p.Ile1562=) c.3090T>A (p.Ile1030=) n.5226T>A | |
6 | g.52024861A>C | CA364430451 | PKHD1 | c.4949T>G (p.Ile1650Ser) c.4307T>G (p.Ile1436Ser) c.4238T>G (p.Ile1413Ser) c.4874T>G (p.Ile1625Ser) c.4685T>G (p.Ile1562Ser) c.3089T>G (p.Ile1030Ser) n.5225T>G | |
6 | g.52024861A>G | CA364430454 | PKHD1 | c.4949T>C (p.Ile1650Thr) c.4307T>C (p.Ile1436Thr) c.4238T>C (p.Ile1413Thr) c.4874T>C (p.Ile1625Thr) c.4685T>C (p.Ile1562Thr) c.3089T>C (p.Ile1030Thr) n.5225T>C | |
6 | g.52024861A>T | CA364430457 | PKHD1 | c.4949T>A (p.Ile1650Asn) c.4307T>A (p.Ile1436Asn) c.4238T>A (p.Ile1413Asn) c.4874T>A (p.Ile1625Asn) c.4685T>A (p.Ile1562Asn) c.3089T>A (p.Ile1030Asn) n.5225T>A | |
6 | g.52024862T>A | CA364430462 | PKHD1 | c.4948A>T (p.Ile1650Phe) c.4306A>T (p.Ile1436Phe) c.4237A>T (p.Ile1413Phe) c.4873A>T (p.Ile1625Phe) c.4684A>T (p.Ile1562Phe) c.3088A>T (p.Ile1030Phe) n.5224A>T | gnomAD v4 |
6 | g.52024862T>C | CA364430463 | PKHD1 | c.4948A>G (p.Ile1650Val) c.4306A>G (p.Ile1436Val) c.4237A>G (p.Ile1413Val) c.4873A>G (p.Ile1625Val) c.4684A>G (p.Ile1562Val) c.3088A>G (p.Ile1030Val) n.5224A>G | |
6 | g.52024862T>G | CA364430464 | PKHD1 | c.4948A>C (p.Ile1650Leu) c.4306A>C (p.Ile1436Leu) c.4237A>C (p.Ile1413Leu) c.4873A>C (p.Ile1625Leu) c.4684A>C (p.Ile1562Leu) c.3088A>C (p.Ile1030Leu) n.5224A>C | |
6 | g.52024863G>A | CA450613902 | PKHD1 | c.4947C>T (p.Val1649=) c.4305C>T (p.Val1435=) c.4236C>T (p.Val1412=) c.4872C>T (p.Val1624=) c.4683C>T (p.Val1561=) c.3087C>T (p.Val1029=) n.5223C>T | |
6 | g.52024863G>C | CA450613903 | PKHD1 | c.4947C>G (p.Val1649=) c.4305C>G (p.Val1435=) c.4236C>G (p.Val1412=) c.4872C>G (p.Val1624=) c.4683C>G (p.Val1561=) c.3087C>G (p.Val1029=) n.5223C>G | gnomAD v4 |
6 | g.52024863G>T | CA450613904 | PKHD1 | c.4947C>A (p.Val1649=) c.4305C>A (p.Val1435=) c.4236C>A (p.Val1412=) c.4872C>A (p.Val1624=) c.4683C>A (p.Val1561=) c.3087C>A (p.Val1029=) n.5223C>A | |
6 | g.52024864A>C | CA364430466 | PKHD1 | c.4946T>G (p.Val1649Gly) c.4304T>G (p.Val1435Gly) c.4235T>G (p.Val1412Gly) c.4871T>G (p.Val1624Gly) c.4682T>G (p.Val1561Gly) c.3086T>G (p.Val1029Gly) n.5222T>G | |
6 | g.52024864A>G | CA364430467 | PKHD1 | c.4946T>C (p.Val1649Ala) c.4304T>C (p.Val1435Ala) c.4235T>C (p.Val1412Ala) c.4871T>C (p.Val1624Ala) c.4682T>C (p.Val1561Ala) c.3086T>C (p.Val1029Ala) n.5222T>C | gnomAD v4 |
6 | g.52024864A>T | CA364430470 | PKHD1 | c.4946T>A (p.Val1649Asp) c.4304T>A (p.Val1435Asp) c.4235T>A (p.Val1412Asp) c.4871T>A (p.Val1624Asp) c.4682T>A (p.Val1561Asp) c.3086T>A (p.Val1029Asp) n.5222T>A | |
6 | g.52024865C>A | CA364430473 | PKHD1 | c.4945G>T (p.Val1649Phe) c.4303G>T (p.Val1435Phe) c.4234G>T (p.Val1412Phe) c.4870G>T (p.Val1624Phe) c.4681G>T (p.Val1561Phe) c.3085G>T (p.Val1029Phe) n.5221G>T | |
6 | g.52024865C= | CA1628646787 | PKHD1 | c.4945G= (p.Val1649=) c.4303G= (p.Val1435=) c.4234G= (p.Val1412=) c.4870G= (p.Val1624=) c.4681G= (p.Val1561=) c.3085G= (p.Val1029=) n.5221G= | |
6 | g.52024865C>G | CA364430476 | PKHD1 | c.4945G>C (p.Val1649Leu) c.4303G>C (p.Val1435Leu) c.4234G>C (p.Val1412Leu) c.4870G>C (p.Val1624Leu) c.4681G>C (p.Val1561Leu) c.3085G>C (p.Val1029Leu) n.5221G>C | |
6 | g.52024865C>T | CA364430472 | PKHD1 | c.4945G>A (p.Val1649Ile) c.4303G>A (p.Val1435Ile) c.4234G>A (p.Val1412Ile) c.4870G>A (p.Val1624Ile) c.4681G>A (p.Val1561Ile) c.3085G>A (p.Val1029Ile) n.5221G>A | dbSNP gnomAD v2 COSMIC COSMIC |
6 | g.52024866T>A | CA450613905 | PKHD1 | c.4944A>T (p.Gly1648=) c.4302A>T (p.Gly1434=) c.4233A>T (p.Gly1411=) c.4869A>T (p.Gly1623=) c.4680A>T (p.Gly1560=) c.3084A>T (p.Gly1028=) n.5220A>T | ClinVar gnomAD v4 |
6 | g.52024866T>C | CA3852638 | PKHD1 | c.4944A>G (p.Gly1648=) c.4302A>G (p.Gly1434=) c.4233A>G (p.Gly1411=) c.4869A>G (p.Gly1623=) c.4680A>G (p.Gly1560=) c.3084A>G (p.Gly1028=) n.5220A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.52024866T>G | CA450613906 | PKHD1 | c.4944A>C (p.Gly1648=) c.4302A>C (p.Gly1434=) c.4233A>C (p.Gly1411=) c.4869A>C (p.Gly1623=) c.4680A>C (p.Gly1560=) c.3084A>C (p.Gly1028=) n.5220A>C | |
6 | g.52024866T= | CA1628646793 | PKHD1 | c.4944A= (p.Gly1648=) c.4302A= (p.Gly1434=) c.4233A= (p.Gly1411=) c.4869A= (p.Gly1623=) c.4680A= (p.Gly1560=) c.3084A= (p.Gly1028=) n.5220A= | |
6 | g.52024867C>A | CA364430480 | PKHD1 | c.4943G>T (p.Gly1648Val) c.4301G>T (p.Gly1434Val) c.4232G>T (p.Gly1411Val) c.4868G>T (p.Gly1623Val) c.4679G>T (p.Gly1560Val) c.3083G>T (p.Gly1028Val) n.5219G>T | |
6 | g.52024867C>G | CA364430488 | PKHD1 | c.4943G>C (p.Gly1648Ala) c.4301G>C (p.Gly1434Ala) c.4232G>C (p.Gly1411Ala) c.4868G>C (p.Gly1623Ala) c.4679G>C (p.Gly1560Ala) c.3083G>C (p.Gly1028Ala) n.5219G>C | |
6 | g.52024867C>T | CA364430485 | PKHD1 | c.4943G>A (p.Gly1648Glu) c.4301G>A (p.Gly1434Glu) c.4232G>A (p.Gly1411Glu) c.4868G>A (p.Gly1623Glu) c.4679G>A (p.Gly1560Glu) c.3083G>A (p.Gly1028Glu) n.5219G>A | |
6 | g.52024868C>A | CA364430491 | PKHD1 | c.4942G>T (p.Gly1648Ter) c.4300G>T (p.Gly1434Ter) c.4231G>T (p.Gly1411Ter) c.4867G>T (p.Gly1623Ter) c.4678G>T (p.Gly1560Ter) c.3082G>T (p.Gly1028Ter) n.5218G>T | |
6 | g.52024868C>G | CA364430492 | PKHD1 | c.4942G>C (p.Gly1648Arg) c.4300G>C (p.Gly1434Arg) c.4231G>C (p.Gly1411Arg) c.4867G>C (p.Gly1623Arg) c.4678G>C (p.Gly1560Arg) c.3082G>C (p.Gly1028Arg) n.5218G>C | |
6 | g.52024868C>T | CA364430495 | PKHD1 | c.4942G>A (p.Gly1648Arg) c.4300G>A (p.Gly1434Arg) c.4231G>A (p.Gly1411Arg) c.4867G>A (p.Gly1623Arg) c.4678G>A (p.Gly1560Arg) c.3082G>A (p.Gly1028Arg) n.5218G>A | |
6 | g.52024869T>A | CA450613907 | PKHD1 | c.4941A>T (p.Ile1647=) c.4299A>T (p.Ile1433=) c.4230A>T (p.Ile1410=) c.4866A>T (p.Ile1622=) c.4677A>T (p.Ile1559=) c.3081A>T (p.Ile1027=) n.5217A>T | |
6 | g.52024869T>C | CA364430497 | PKHD1 | c.4941A>G (p.Ile1647Met) c.4299A>G (p.Ile1433Met) c.4230A>G (p.Ile1410Met) c.4866A>G (p.Ile1622Met) c.4677A>G (p.Ile1559Met) c.3081A>G (p.Ile1027Met) n.5217A>G | |
6 | g.52024869T>G | CA450613908 | PKHD1 | c.4941A>C (p.Ile1647=) c.4299A>C (p.Ile1433=) c.4230A>C (p.Ile1410=) c.4866A>C (p.Ile1622=) c.4677A>C (p.Ile1559=) c.3081A>C (p.Ile1027=) n.5217A>C | dbSNP gnomAD v4 |
6 | g.52024869T= | CA1628646797 | PKHD1 | c.4941A= (p.Ile1647=) c.4299A= (p.Ile1433=) c.4230A= (p.Ile1410=) c.4866A= (p.Ile1622=) c.4677A= (p.Ile1559=) c.3081A= (p.Ile1027=) n.5217A= | |
6 | g.52024870A= | CA1628646800 | PKHD1 | c.4940T= (p.Ile1647=) c.4298T= (p.Ile1433=) c.4229T= (p.Ile1410=) c.4865T= (p.Ile1622=) c.4676T= (p.Ile1559=) c.3080T= (p.Ile1027=) n.5216T= | |
6 | g.52024870A>C | CA364430500 | PKHD1 | c.4940T>G (p.Ile1647Arg) c.4298T>G (p.Ile1433Arg) c.4229T>G (p.Ile1410Arg) c.4865T>G (p.Ile1622Arg) c.4676T>G (p.Ile1559Arg) c.3080T>G (p.Ile1027Arg) n.5216T>G | |
6 | g.52024870A>G | CA3852639 | PKHD1 | c.4940T>C (p.Ile1647Thr) c.4298T>C (p.Ile1433Thr) c.4229T>C (p.Ile1410Thr) c.4865T>C (p.Ile1622Thr) c.4676T>C (p.Ile1559Thr) c.3080T>C (p.Ile1027Thr) n.5216T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.52024870A>T | CA364430503 | PKHD1 | c.4940T>A (p.Ile1647Lys) c.4298T>A (p.Ile1433Lys) c.4229T>A (p.Ile1410Lys) c.4865T>A (p.Ile1622Lys) c.4676T>A (p.Ile1559Lys) c.3080T>A (p.Ile1027Lys) n.5216T>A | |
6 | g.52024871T>A | CA364430506 | PKHD1 | c.4939A>T (p.Ile1647Leu) c.4297A>T (p.Ile1433Leu) c.4228A>T (p.Ile1410Leu) c.4864A>T (p.Ile1622Leu) c.4675A>T (p.Ile1559Leu) c.3079A>T (p.Ile1027Leu) n.5215A>T | |
6 | g.52024871T>C | CA364430508 | PKHD1 | c.4939A>G (p.Ile1647Val) c.4297A>G (p.Ile1433Val) c.4228A>G (p.Ile1410Val) c.4864A>G (p.Ile1622Val) c.4675A>G (p.Ile1559Val) c.3079A>G (p.Ile1027Val) n.5215A>G | dbSNP |
6 | g.52024871T>G | CA364430510 | PKHD1 | c.4939A>C (p.Ile1647Leu) c.4297A>C (p.Ile1433Leu) c.4228A>C (p.Ile1410Leu) c.4864A>C (p.Ile1622Leu) c.4675A>C (p.Ile1559Leu) c.3079A>C (p.Ile1027Leu) n.5215A>C | |
6 | g.52024872G>A | CA450613909 | PKHD1 | c.4938C>T (p.His1646=) c.4296C>T (p.His1432=) c.4227C>T (p.His1409=) c.4863C>T (p.His1621=) c.4674C>T (p.His1558=) c.3078C>T (p.His1026=) n.5214C>T | |
6 | g.52024872G>C | CA364430517 | PKHD1 | c.4938C>G (p.His1646Gln) c.4296C>G (p.His1432Gln) c.4227C>G (p.His1409Gln) c.4863C>G (p.His1621Gln) c.4674C>G (p.His1558Gln) c.3078C>G (p.His1026Gln) n.5214C>G | |
6 | g.52024872G>T | CA364430518 | PKHD1 | c.4938C>A (p.His1646Gln) c.4296C>A (p.His1432Gln) c.4227C>A (p.His1409Gln) c.4863C>A (p.His1621Gln) c.4674C>A (p.His1558Gln) c.3078C>A (p.His1026Gln) n.5214C>A | |
6 | g.52024873T>A | CA364430526 | PKHD1 | c.4937A>T (p.His1646Leu) c.4295A>T (p.His1432Leu) c.4226A>T (p.His1409Leu) c.4862A>T (p.His1621Leu) c.4673A>T (p.His1558Leu) c.3077A>T (p.His1026Leu) n.5213A>T | |
6 | g.52024873T>C | CA364430522 | PKHD1 | c.4937A>G (p.His1646Arg) c.4295A>G (p.His1432Arg) c.4226A>G (p.His1409Arg) c.4862A>G (p.His1621Arg) c.4673A>G (p.His1558Arg) c.3077A>G (p.His1026Arg) n.5213A>G | gnomAD v4 |
6 | g.52024873T>G | CA364430525 | PKHD1 | c.4937A>C (p.His1646Pro) c.4295A>C (p.His1432Pro) c.4226A>C (p.His1409Pro) c.4862A>C (p.His1621Pro) c.4673A>C (p.His1558Pro) c.3077A>C (p.His1026Pro) n.5213A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.52024873T= | CA1628646802 | PKHD1 | c.4937A= (p.His1646=) c.4295A= (p.His1432=) c.4226A= (p.His1409=) c.4862A= (p.His1621=) c.4673A= (p.His1558=) c.3077A= (p.His1026=) n.5213A= | |
6 | g.52024874G>A | CA3852640 | PKHD1 | c.4936C>T (p.His1646Tyr) c.4294C>T (p.His1432Tyr) c.4225C>T (p.His1409Tyr) c.4861C>T (p.His1621Tyr) c.4672C>T (p.His1558Tyr) c.3076C>T (p.His1026Tyr) n.5212C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.52024874G>C | CA364430530 | PKHD1 | c.4936C>G (p.His1646Asp) c.4294C>G (p.His1432Asp) c.4225C>G (p.His1409Asp) c.4861C>G (p.His1621Asp) c.4672C>G (p.His1558Asp) c.3076C>G (p.His1026Asp) n.5212C>G | |
6 | g.52024874G= | CA1628646806 | PKHD1 | c.4936C= (p.His1646=) c.4294C= (p.His1432=) c.4225C= (p.His1409=) c.4861C= (p.His1621=) c.4672C= (p.His1558=) c.3076C= (p.His1026=) n.5212C= | |
6 | g.52024874G>T | CA364430533 | PKHD1 | c.4936C>A (p.His1646Asn) c.4294C>A (p.His1432Asn) c.4225C>A (p.His1409Asn) c.4861C>A (p.His1621Asn) c.4672C>A (p.His1558Asn) c.3076C>A (p.His1026Asn) n.5212C>A | |
6 | g.52024875A>C | CA364430536 | PKHD1 | c.4935T>G (p.Tyr1645Ter) c.4293T>G (p.Tyr1431Ter) c.4224T>G (p.Tyr1408Ter) c.4860T>G (p.Tyr1620Ter) c.4671T>G (p.Tyr1557Ter) c.3075T>G (p.Tyr1025Ter) n.5211T>G | |
6 | g.52024875A>G | CA450613910 | PKHD1 | c.4935T>C (p.Tyr1645=) c.4293T>C (p.Tyr1431=) c.4224T>C (p.Tyr1408=) c.4860T>C (p.Tyr1620=) c.4671T>C (p.Tyr1557=) c.3075T>C (p.Tyr1025=) n.5211T>C | |
6 | g.52024875A>T | CA364430537 | PKHD1 | c.4935T>A (p.Tyr1645Ter) c.4293T>A (p.Tyr1431Ter) c.4224T>A (p.Tyr1408Ter) c.4860T>A (p.Tyr1620Ter) c.4671T>A (p.Tyr1557Ter) c.3075T>A (p.Tyr1025Ter) n.5211T>A | |
6 | g.52024876T>A | CA364430539 | PKHD1 | c.4934A>T (p.Tyr1645Phe) c.4292A>T (p.Tyr1431Phe) c.4223A>T (p.Tyr1408Phe) c.4859A>T (p.Tyr1620Phe) c.4670A>T (p.Tyr1557Phe) c.3074A>T (p.Tyr1025Phe) n.5210A>T | |
6 | g.52024876T>C | CA364430541 | PKHD1 | c.4934A>G (p.Tyr1645Cys) c.4292A>G (p.Tyr1431Cys) c.4223A>G (p.Tyr1408Cys) c.4859A>G (p.Tyr1620Cys) c.4670A>G (p.Tyr1557Cys) c.3074A>G (p.Tyr1025Cys) n.5210A>G | |
6 | g.52024876T>G | CA364430544 | PKHD1 | c.4934A>C (p.Tyr1645Ser) c.4292A>C (p.Tyr1431Ser) c.4223A>C (p.Tyr1408Ser) c.4859A>C (p.Tyr1620Ser) c.4670A>C (p.Tyr1557Ser) c.3074A>C (p.Tyr1025Ser) n.5210A>C | |
6 | g.52024877A= | CA1628646809 | PKHD1 | c.4933T= (p.Tyr1645=) c.4291T= (p.Tyr1431=) c.4222T= (p.Tyr1408=) c.4858T= (p.Tyr1620=) c.4669T= (p.Tyr1557=) c.3073T= (p.Tyr1025=) n.5209T= | |
6 | g.52024877A>C | CA364430547 | PKHD1 | c.4933T>G (p.Tyr1645Asp) c.4291T>G (p.Tyr1431Asp) c.4222T>G (p.Tyr1408Asp) c.4858T>G (p.Tyr1620Asp) c.4669T>G (p.Tyr1557Asp) c.3073T>G (p.Tyr1025Asp) n.5209T>G | |
6 | g.52024877A>G | CA3852641 | PKHD1 | c.4933T>C (p.Tyr1645His) c.4291T>C (p.Tyr1431His) c.4222T>C (p.Tyr1408His) c.4858T>C (p.Tyr1620His) c.4669T>C (p.Tyr1557His) c.3073T>C (p.Tyr1025His) n.5209T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.52024877A>T | CA364430551 | PKHD1 | c.4933T>A (p.Tyr1645Asn) c.4291T>A (p.Tyr1431Asn) c.4222T>A (p.Tyr1408Asn) c.4858T>A (p.Tyr1620Asn) c.4669T>A (p.Tyr1557Asn) c.3073T>A (p.Tyr1025Asn) n.5209T>A | |
6 | g.52024878C>A | CA3852642 | PKHD1 | c.4932G>T (p.Trp1644Cys) c.4290G>T (p.Trp1430Cys) c.4221G>T (p.Trp1407Cys) c.4857G>T (p.Trp1619Cys) c.4668G>T (p.Trp1556Cys) c.3072G>T (p.Trp1024Cys) n.5208G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.52024878C= | CA1628646815 | PKHD1 | c.4932G= (p.Trp1644=) c.4290G= (p.Trp1430=) c.4221G= (p.Trp1407=) c.4857G= (p.Trp1619=) c.4668G= (p.Trp1556=) c.3072G= (p.Trp1024=) n.5208G= | |
6 | g.52024878C>G | CA364430555 | PKHD1 | c.4932G>C (p.Trp1644Cys) c.4290G>C (p.Trp1430Cys) c.4221G>C (p.Trp1407Cys) c.4857G>C (p.Trp1619Cys) c.4668G>C (p.Trp1556Cys) c.3072G>C (p.Trp1024Cys) n.5208G>C | gnomAD v4 |
6 | g.52024878C>T | CA364430553 | PKHD1 | c.4932G>A (p.Trp1644Ter) c.4290G>A (p.Trp1430Ter) c.4221G>A (p.Trp1407Ter) c.4857G>A (p.Trp1619Ter) c.4668G>A (p.Trp1556Ter) c.3072G>A (p.Trp1024Ter) n.5208G>A | ClinVar dbSNP |
6 | g.52024881_52024887del | CA2573140959 | PKHD1 | c.4926_4932del (p.Leu1643IlefsTer3) c.4284_4290del (p.Leu1429IlefsTer3) c.4215_4221del (p.Leu1406IlefsTer3) c.4851_4857del (p.Leu1618IlefsTer3) c.4662_4668del (p.Leu1555IlefsTer3) c.3066_3072del (p.Leu1023IlefsTer3) n.5202_5208del | ClinVar dbSNP |
6 | g.52024879C>A | CA364430563 | PKHD1 | c.4931G>T (p.Trp1644Leu) c.4289G>T (p.Trp1430Leu) c.4220G>T (p.Trp1407Leu) c.4856G>T (p.Trp1619Leu) c.4667G>T (p.Trp1556Leu) c.3071G>T (p.Trp1024Leu) n.5207G>T | |
6 | g.52024879C>G | CA364430558 | PKHD1 | c.4931G>C (p.Trp1644Ser) c.4289G>C (p.Trp1430Ser) c.4220G>C (p.Trp1407Ser) c.4856G>C (p.Trp1619Ser) c.4667G>C (p.Trp1556Ser) c.3071G>C (p.Trp1024Ser) n.5207G>C | |
6 | g.52024879C>T | CA364430560 | PKHD1 | c.4931G>A (p.Trp1644Ter) c.4289G>A (p.Trp1430Ter) c.4220G>A (p.Trp1407Ter) c.4856G>A (p.Trp1619Ter) c.4667G>A (p.Trp1556Ter) c.3071G>A (p.Trp1024Ter) n.5207G>A | gnomAD v4 |
6 | g.52024880A>C | CA364430570 | PKHD1 | c.4930T>G (p.Trp1644Gly) c.4288T>G (p.Trp1430Gly) c.4219T>G (p.Trp1407Gly) c.4855T>G (p.Trp1619Gly) c.4666T>G (p.Trp1556Gly) c.3070T>G (p.Trp1024Gly) n.5206T>G | |
6 | g.52024880A>G | CA364430572 | PKHD1 | c.4930T>C (p.Trp1644Arg) c.4288T>C (p.Trp1430Arg) c.4219T>C (p.Trp1407Arg) c.4855T>C (p.Trp1619Arg) c.4666T>C (p.Trp1556Arg) c.3070T>C (p.Trp1024Arg) n.5206T>C | gnomAD v4 |
6 | g.52024880A>T | CA364430573 | PKHD1 | c.4930T>A (p.Trp1644Arg) c.4288T>A (p.Trp1430Arg) c.4219T>A (p.Trp1407Arg) c.4855T>A (p.Trp1619Arg) c.4666T>A (p.Trp1556Arg) c.3070T>A (p.Trp1024Arg) n.5206T>A | |
6 | g.52024881A>C | CA450613911 | PKHD1 | c.4929T>G (p.Leu1643=) c.4287T>G (p.Leu1429=) c.4218T>G (p.Leu1406=) c.4854T>G (p.Leu1618=) c.4665T>G (p.Leu1555=) c.3069T>G (p.Leu1023=) n.5205T>G | |
6 | g.52024881A>G | CA450613912 | PKHD1 | c.4929T>C (p.Leu1643=) c.4287T>C (p.Leu1429=) c.4218T>C (p.Leu1406=) c.4854T>C (p.Leu1618=) c.4665T>C (p.Leu1555=) c.3069T>C (p.Leu1023=) n.5205T>C | |
6 | g.52024881A>T | CA450613913 | PKHD1 | c.4929T>A (p.Leu1643=) c.4287T>A (p.Leu1429=) c.4218T>A (p.Leu1406=) c.4854T>A (p.Leu1618=) c.4665T>A (p.Leu1555=) c.3069T>A (p.Leu1023=) n.5205T>A | |
6 | g.52024882A>C | CA364430580 | PKHD1 | c.4928T>G (p.Leu1643Arg) c.4286T>G (p.Leu1429Arg) c.4217T>G (p.Leu1406Arg) c.4853T>G (p.Leu1618Arg) c.4664T>G (p.Leu1555Arg) c.3068T>G (p.Leu1023Arg) n.5204T>G | |
6 | g.52024882A>G | CA364430578 | PKHD1 | c.4928T>C (p.Leu1643Pro) c.4286T>C (p.Leu1429Pro) c.4217T>C (p.Leu1406Pro) c.4853T>C (p.Leu1618Pro) c.4664T>C (p.Leu1555Pro) c.3068T>C (p.Leu1023Pro) n.5204T>C | |
6 | g.52024882A>T | CA364430575 | PKHD1 | c.4928T>A (p.Leu1643His) c.4286T>A (p.Leu1429His) c.4217T>A (p.Leu1406His) c.4853T>A (p.Leu1618His) c.4664T>A (p.Leu1555His) c.3068T>A (p.Leu1023His) n.5204T>A | |
6 | g.52024883G>A | CA364430581 | PKHD1 | c.4927C>T (p.Leu1643Phe) c.4285C>T (p.Leu1429Phe) c.4216C>T (p.Leu1406Phe) c.4852C>T (p.Leu1618Phe) c.4663C>T (p.Leu1555Phe) c.3067C>T (p.Leu1023Phe) n.5203C>T | |
6 | g.52024883G>C | CA364430583 | PKHD1 | c.4927C>G (p.Leu1643Val) c.4285C>G (p.Leu1429Val) c.4216C>G (p.Leu1406Val) c.4852C>G (p.Leu1618Val) c.4663C>G (p.Leu1555Val) c.3067C>G (p.Leu1023Val) n.5203C>G | |
6 | g.52024883G>T | CA364430588 | PKHD1 | c.4927C>A (p.Leu1643Ile) c.4285C>A (p.Leu1429Ile) c.4216C>A (p.Leu1406Ile) c.4852C>A (p.Leu1618Ile) c.4663C>A (p.Leu1555Ile) c.3067C>A (p.Leu1023Ile) n.5203C>A | |
6 | g.52024884T>A | CA450613914 | PKHD1 | c.4926A>T (p.Gly1642=) c.4284A>T (p.Gly1428=) c.4215A>T (p.Gly1405=) c.4851A>T (p.Gly1617=) c.4662A>T (p.Gly1554=) c.3066A>T (p.Gly1022=) n.5202A>T | |
6 | g.52024884T>C | CA450613915 | PKHD1 | c.4926A>G (p.Gly1642=) c.4284A>G (p.Gly1428=) c.4215A>G (p.Gly1405=) c.4851A>G (p.Gly1617=) c.4662A>G (p.Gly1554=) c.3066A>G (p.Gly1022=) n.5202A>G | |
6 | g.52024884T>G | CA450613916 | PKHD1 | c.4926A>C (p.Gly1642=) c.4284A>C (p.Gly1428=) c.4215A>C (p.Gly1405=) c.4851A>C (p.Gly1617=) c.4662A>C (p.Gly1554=) c.3066A>C (p.Gly1022=) n.5202A>C | |
6 | g.52024885C>A | CA364430590 | PKHD1 | c.4925G>T (p.Gly1642Val) c.4283G>T (p.Gly1428Val) c.4214G>T (p.Gly1405Val) c.4850G>T (p.Gly1617Val) c.4661G>T (p.Gly1554Val) c.3065G>T (p.Gly1022Val) n.5201G>T | |
6 | g.52024885C>G | CA364430591 | PKHD1 | c.4925G>C (p.Gly1642Ala) c.4283G>C (p.Gly1428Ala) c.4214G>C (p.Gly1405Ala) c.4850G>C (p.Gly1617Ala) c.4661G>C (p.Gly1554Ala) c.3065G>C (p.Gly1022Ala) n.5201G>C | |
6 | g.52024885C>T | CA364430593 | PKHD1 | c.4925G>A (p.Gly1642Glu) c.4283G>A (p.Gly1428Glu) c.4214G>A (p.Gly1405Glu) c.4850G>A (p.Gly1617Glu) c.4661G>A (p.Gly1554Glu) c.3065G>A (p.Gly1022Glu) n.5201G>A | |
6 | g.52024886C>A | CA364430594 | PKHD1 | c.4924G>T (p.Gly1642Ter) c.4282G>T (p.Gly1428Ter) c.4213G>T (p.Gly1405Ter) c.4849G>T (p.Gly1617Ter) c.4660G>T (p.Gly1554Ter) c.3064G>T (p.Gly1022Ter) n.5200G>T | |
6 | g.52024886C>G | CA364430597 | PKHD1 | c.4924G>C (p.Gly1642Arg) c.4282G>C (p.Gly1428Arg) c.4213G>C (p.Gly1405Arg) c.4849G>C (p.Gly1617Arg) c.4660G>C (p.Gly1554Arg) c.3064G>C (p.Gly1022Arg) n.5200G>C | |
6 | g.52024886C>T | CA364430596 | PKHD1 | c.4924G>A (p.Gly1642Arg) c.4282G>A (p.Gly1428Arg) c.4213G>A (p.Gly1405Arg) c.4849G>A (p.Gly1617Arg) c.4660G>A (p.Gly1554Arg) c.3064G>A (p.Gly1022Arg) n.5200G>A | |
6 | g.52024887A= | CA1628646817 | PKHD1 | c.4923T= (p.Asp1641=) c.4281T= (p.Asp1427=) c.4212T= (p.Asp1404=) c.4848T= (p.Asp1616=) c.4659T= (p.Asp1553=) c.3063T= (p.Asp1021=) n.5199T= | |
6 | g.52024887A>C | CA364430599 | PKHD1 | c.4923T>G (p.Asp1641Glu) c.4281T>G (p.Asp1427Glu) c.4212T>G (p.Asp1404Glu) c.4848T>G (p.Asp1616Glu) c.4659T>G (p.Asp1553Glu) c.3063T>G (p.Asp1021Glu) n.5199T>G | |
6 | g.52024887A>G | CA450613917 | PKHD1 | c.4923T>C (p.Asp1641=) c.4281T>C (p.Asp1427=) c.4212T>C (p.Asp1404=) c.4848T>C (p.Asp1616=) c.4659T>C (p.Asp1553=) c.3063T>C (p.Asp1021=) n.5199T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.52024887A>T | CA364430602 | PKHD1 | c.4923T>A (p.Asp1641Glu) c.4281T>A (p.Asp1427Glu) c.4212T>A (p.Asp1404Glu) c.4848T>A (p.Asp1616Glu) c.4659T>A (p.Asp1553Glu) c.3063T>A (p.Asp1021Glu) n.5199T>A | |
6 | g.52024888T>A | CA364430607 | PKHD1 | c.4922A>T (p.Asp1641Val) c.4280A>T (p.Asp1427Val) c.4211A>T (p.Asp1404Val) c.4847A>T (p.Asp1616Val) c.4658A>T (p.Asp1553Val) c.3062A>T (p.Asp1021Val) n.5198A>T | |
6 | g.52024888T>C | CA364430608 | PKHD1 | c.4922A>G (p.Asp1641Gly) c.4280A>G (p.Asp1427Gly) c.4211A>G (p.Asp1404Gly) c.4847A>G (p.Asp1616Gly) c.4658A>G (p.Asp1553Gly) c.3062A>G (p.Asp1021Gly) n.5198A>G | |
6 | g.52024888T>G | CA364430610 | PKHD1 | c.4922A>C (p.Asp1641Ala) c.4280A>C (p.Asp1427Ala) c.4211A>C (p.Asp1404Ala) c.4847A>C (p.Asp1616Ala) c.4658A>C (p.Asp1553Ala) c.3062A>C (p.Asp1021Ala) n.5198A>C | |
6 | g.52024889C>A | CA364430613 | PKHD1 | c.4921G>T (p.Asp1641Tyr) c.4279G>T (p.Asp1427Tyr) c.4210G>T (p.Asp1404Tyr) c.4846G>T (p.Asp1616Tyr) c.4657G>T (p.Asp1553Tyr) c.3061G>T (p.Asp1021Tyr) n.5197G>T | |
6 | g.52024889C>G | CA364430615 | PKHD1 | c.4921G>C (p.Asp1641His) c.4279G>C (p.Asp1427His) c.4210G>C (p.Asp1404His) c.4846G>C (p.Asp1616His) c.4657G>C (p.Asp1553His) c.3061G>C (p.Asp1021His) n.5197G>C | gnomAD v4 COSMIC COSMIC |
6 | g.52024889C>T | CA364430617 | PKHD1 | c.4921G>A (p.Asp1641Asn) c.4279G>A (p.Asp1427Asn) c.4210G>A (p.Asp1404Asn) c.4846G>A (p.Asp1616Asn) c.4657G>A (p.Asp1553Asn) c.3061G>A (p.Asp1021Asn) n.5197G>A | ClinVar |
6 | g.52024890T>A | CA450613918 | PKHD1 | c.4920A>T (p.Val1640=) c.4278A>T (p.Val1426=) c.4209A>T (p.Val1403=) c.4845A>T (p.Val1615=) c.4656A>T (p.Val1552=) c.3060A>T (p.Val1020=) n.5196A>T | ClinVar |
6 | g.52024890T>C | CA244189 | PKHD1 | c.4920A>G (p.Val1640=) c.4278A>G (p.Val1426=) c.4209A>G (p.Val1403=) c.4845A>G (p.Val1615=) c.4656A>G (p.Val1552=) c.3060A>G (p.Val1020=) n.5196A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.52024890T>G | CA450613919 | PKHD1 | c.4920A>C (p.Val1640=) c.4278A>C (p.Val1426=) c.4209A>C (p.Val1403=) c.4845A>C (p.Val1615=) c.4656A>C (p.Val1552=) c.3060A>C (p.Val1020=) n.5196A>C | |
6 | g.52024890T= | CA1628646823 | PKHD1 | c.4920A= (p.Val1640=) c.4278A= (p.Val1426=) c.4209A= (p.Val1403=) c.4845A= (p.Val1615=) c.4656A= (p.Val1552=) c.3060A= (p.Val1020=) n.5196A= | |
6 | g.52024891A>C | CA364430621 | PKHD1 | c.4919T>G (p.Val1640Gly) c.4277T>G (p.Val1426Gly) c.4208T>G (p.Val1403Gly) c.4844T>G (p.Val1615Gly) c.4655T>G (p.Val1552Gly) c.3059T>G (p.Val1020Gly) n.5195T>G | |
6 | g.52024891A>G | CA364430623 | PKHD1 | c.4919T>C (p.Val1640Ala) c.4277T>C (p.Val1426Ala) c.4208T>C (p.Val1403Ala) c.4844T>C (p.Val1615Ala) c.4655T>C (p.Val1552Ala) c.3059T>C (p.Val1020Ala) n.5195T>C | |
6 | g.52024891A>T | CA364430625 | PKHD1 | c.4919T>A (p.Val1640Glu) c.4277T>A (p.Val1426Glu) c.4208T>A (p.Val1403Glu) c.4844T>A (p.Val1615Glu) c.4655T>A (p.Val1552Glu) c.3059T>A (p.Val1020Glu) n.5195T>A | |
6 | g.52024892C>A | CA364430629 | PKHD1 | c.4918G>T (p.Val1640Leu) c.4276G>T (p.Val1426Leu) c.4207G>T (p.Val1403Leu) c.4843G>T (p.Val1615Leu) c.4654G>T (p.Val1552Leu) c.3058G>T (p.Val1020Leu) n.5194G>T | |
6 | g.52024892C= | CA1628646829 | PKHD1 | c.4918G= (p.Val1640=) c.4276G= (p.Val1426=) c.4207G= (p.Val1403=) c.4843G= (p.Val1615=) c.4654G= (p.Val1552=) c.3058G= (p.Val1020=) n.5194G= | |
6 | g.52024892C>G | CA364430630 | PKHD1 | c.4918G>C (p.Val1640Leu) c.4276G>C (p.Val1426Leu) c.4207G>C (p.Val1403Leu) c.4843G>C (p.Val1615Leu) c.4654G>C (p.Val1552Leu) c.3058G>C (p.Val1020Leu) n.5194G>C | |
6 | g.52024892C>T | CA364430626 | PKHD1 | c.4918G>A (p.Val1640Ile) c.4276G>A (p.Val1426Ile) c.4207G>A (p.Val1403Ile) c.4843G>A (p.Val1615Ile) c.4654G>A (p.Val1552Ile) c.3058G>A (p.Val1020Ile) n.5194G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.52024893C>A | CA364430632 | PKHD1 | c.4917G>T (p.Glu1639Asp) c.4275G>T (p.Glu1425Asp) c.4206G>T (p.Glu1402Asp) c.4842G>T (p.Glu1614Asp) c.4653G>T (p.Glu1551Asp) c.3057G>T (p.Glu1019Asp) n.5193G>T | |
6 | g.52024893C>G | CA364430633 | PKHD1 | c.4917G>C (p.Glu1639Asp) c.4275G>C (p.Glu1425Asp) c.4206G>C (p.Glu1402Asp) c.4842G>C (p.Glu1614Asp) c.4653G>C (p.Glu1551Asp) c.3057G>C (p.Glu1019Asp) n.5193G>C | |
6 | g.52024893C>T | CA450613920 | PKHD1 | c.4917G>A (p.Glu1639=) c.4275G>A (p.Glu1425=) c.4206G>A (p.Glu1402=) c.4842G>A (p.Glu1614=) c.4653G>A (p.Glu1551=) c.3057G>A (p.Glu1019=) n.5193G>A | |
6 | g.52024894T>A | CA364430638 | PKHD1 | c.4916A>T (p.Glu1639Val) c.4274A>T (p.Glu1425Val) c.4205A>T (p.Glu1402Val) c.4841A>T (p.Glu1614Val) c.4652A>T (p.Glu1551Val) c.3056A>T (p.Glu1019Val) n.5192A>T | |
6 | g.52024894T>C | CA364430640 | PKHD1 | c.4916A>G (p.Glu1639Gly) c.4274A>G (p.Glu1425Gly) c.4205A>G (p.Glu1402Gly) c.4841A>G (p.Glu1614Gly) c.4652A>G (p.Glu1551Gly) c.3056A>G (p.Glu1019Gly) n.5192A>G | |
6 | g.52024894T>G | CA364430643 | PKHD1 | c.4916A>C (p.Glu1639Ala) c.4274A>C (p.Glu1425Ala) c.4205A>C (p.Glu1402Ala) c.4841A>C (p.Glu1614Ala) c.4652A>C (p.Glu1551Ala) c.3056A>C (p.Glu1019Ala) n.5192A>C | |
6 | g.52024895C>A | CA364430645 | PKHD1 | c.4915G>T (p.Glu1639Ter) c.4273G>T (p.Glu1425Ter) c.4204G>T (p.Glu1402Ter) c.4840G>T (p.Glu1614Ter) c.4651G>T (p.Glu1551Ter) c.3055G>T (p.Glu1019Ter) n.5191G>T | |
6 | g.52024895C>G | CA364430647 | PKHD1 | c.4915G>C (p.Glu1639Gln) c.4273G>C (p.Glu1425Gln) c.4204G>C (p.Glu1402Gln) c.4840G>C (p.Glu1614Gln) c.4651G>C (p.Glu1551Gln) c.3055G>C (p.Glu1019Gln) n.5191G>C | |
6 | g.52024895C>T | CA364430650 | PKHD1 | c.4915G>A (p.Glu1639Lys) c.4273G>A (p.Glu1425Lys) c.4204G>A (p.Glu1402Lys) c.4840G>A (p.Glu1614Lys) c.4651G>A (p.Glu1551Lys) c.3055G>A (p.Glu1019Lys) n.5191G>A | |
6 | g.52024896T>A | CA450613921 | PKHD1 | c.4914A>T (p.Ile1638=) c.4272A>T (p.Ile1424=) c.4203A>T (p.Ile1401=) c.4839A>T (p.Ile1613=) c.4650A>T (p.Ile1550=) c.3054A>T (p.Ile1018=) n.5190A>T | |
6 | g.52024896T>C | CA364430652 | PKHD1 | c.4914A>G (p.Ile1638Met) c.4272A>G (p.Ile1424Met) c.4203A>G (p.Ile1401Met) c.4839A>G (p.Ile1613Met) c.4650A>G (p.Ile1550Met) c.3054A>G (p.Ile1018Met) n.5190A>G | |
6 | g.52024896T>G | CA450613922 | PKHD1 | c.4914A>C (p.Ile1638=) c.4272A>C (p.Ile1424=) c.4203A>C (p.Ile1401=) c.4839A>C (p.Ile1613=) c.4650A>C (p.Ile1550=) c.3054A>C (p.Ile1018=) n.5190A>C | ClinVar |
6 | g.52024897A>C | CA364430655 | PKHD1 | c.4913T>G (p.Ile1638Arg) c.4271T>G (p.Ile1424Arg) c.4202T>G (p.Ile1401Arg) c.4838T>G (p.Ile1613Arg) c.4649T>G (p.Ile1550Arg) c.3053T>G (p.Ile1018Arg) n.5189T>G | |
6 | g.52024897A>G | CA364430657 | PKHD1 | c.4913T>C (p.Ile1638Thr) c.4271T>C (p.Ile1424Thr) c.4202T>C (p.Ile1401Thr) c.4838T>C (p.Ile1613Thr) c.4649T>C (p.Ile1550Thr) c.3053T>C (p.Ile1018Thr) n.5189T>C | gnomAD v4 |
6 | g.52024897A>T | CA364430658 | PKHD1 | c.4913T>A (p.Ile1638Lys) c.4271T>A (p.Ile1424Lys) c.4202T>A (p.Ile1401Lys) c.4838T>A (p.Ile1613Lys) c.4649T>A (p.Ile1550Lys) c.3053T>A (p.Ile1018Lys) n.5189T>A | |
6 | g.52024898T>A | CA364430662 | PKHD1 | c.4912A>T (p.Ile1638Leu) c.4270A>T (p.Ile1424Leu) c.4201A>T (p.Ile1401Leu) c.4837A>T (p.Ile1613Leu) c.4648A>T (p.Ile1550Leu) c.3052A>T (p.Ile1018Leu) n.5188A>T | |
6 | g.52024898T>C | CA364430663 | PKHD1 | c.4912A>G (p.Ile1638Val) c.4270A>G (p.Ile1424Val) c.4201A>G (p.Ile1401Val) c.4837A>G (p.Ile1613Val) c.4648A>G (p.Ile1550Val) c.3052A>G (p.Ile1018Val) n.5188A>G | |
6 | g.52024898T>G | CA364430668 | PKHD1 | c.4912A>C (p.Ile1638Leu) c.4270A>C (p.Ile1424Leu) c.4201A>C (p.Ile1401Leu) c.4837A>C (p.Ile1613Leu) c.4648A>C (p.Ile1550Leu) c.3052A>C (p.Ile1018Leu) n.5188A>C | |
6 | g.52024899T>A | CA364430671 | PKHD1 | c.4911A>T (p.Glu1637Asp) c.4269A>T (p.Glu1423Asp) c.4200A>T (p.Glu1400Asp) c.4836A>T (p.Glu1612Asp) c.4647A>T (p.Glu1549Asp) c.3051A>T (p.Glu1017Asp) n.5187A>T | |
6 | g.52024899T>C | CA450613923 | PKHD1 | c.4911A>G (p.Glu1637=) c.4269A>G (p.Glu1423=) c.4200A>G (p.Glu1400=) c.4836A>G (p.Glu1612=) c.4647A>G (p.Glu1549=) c.3051A>G (p.Glu1017=) n.5187A>G | gnomAD v4 |
6 | g.52024899T>G | CA364430673 | PKHD1 | c.4911A>C (p.Glu1637Asp) c.4269A>C (p.Glu1423Asp) c.4200A>C (p.Glu1400Asp) c.4836A>C (p.Glu1612Asp) c.4647A>C (p.Glu1549Asp) c.3051A>C (p.Glu1017Asp) n.5187A>C |