Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.52024789A=CA1628646661PKHD1c.5021T= (p.Val1674=)
c.4379T= (p.Val1460=)
c.4310T= (p.Val1437=)
c.4946T= (p.Val1649=)
c.4757T= (p.Val1586=)
c.3161T= (p.Val1054=)
n.5297T=
6g.52024789A>CCA364430048PKHD1c.5021T>G (p.Val1674Gly)
c.4379T>G (p.Val1460Gly)
c.4310T>G (p.Val1437Gly)
c.4946T>G (p.Val1649Gly)
c.4757T>G (p.Val1586Gly)
c.3161T>G (p.Val1054Gly)
n.5297T>G
 dbSNP
6g.52024789A>GCA364430043PKHD1c.5021T>C (p.Val1674Ala)
c.4379T>C (p.Val1460Ala)
c.4310T>C (p.Val1437Ala)
c.4946T>C (p.Val1649Ala)
c.4757T>C (p.Val1586Ala)
c.3161T>C (p.Val1054Ala)
n.5297T>C
 gnomAD v4
6g.52024789A>TCA364430045PKHD1c.5021T>A (p.Val1674Glu)
c.4379T>A (p.Val1460Glu)
c.4310T>A (p.Val1437Glu)
c.4946T>A (p.Val1649Glu)
c.4757T>A (p.Val1586Glu)
c.3161T>A (p.Val1054Glu)
n.5297T>A
6g.52024790C>ACA364430051PKHD1c.5020G>T (p.Val1674Leu)
c.4378G>T (p.Val1460Leu)
c.4309G>T (p.Val1437Leu)
c.4945G>T (p.Val1649Leu)
c.4756G>T (p.Val1586Leu)
c.3160G>T (p.Val1054Leu)
n.5296G>T
6g.52024790C>GCA364430053PKHD1c.5020G>C (p.Val1674Leu)
c.4378G>C (p.Val1460Leu)
c.4309G>C (p.Val1437Leu)
c.4945G>C (p.Val1649Leu)
c.4756G>C (p.Val1586Leu)
c.3160G>C (p.Val1054Leu)
n.5296G>C
6g.52024790C>TCA364430055PKHD1c.5020G>A (p.Val1674Met)
c.4378G>A (p.Val1460Met)
c.4309G>A (p.Val1437Met)
c.4945G>A (p.Val1649Met)
c.4756G>A (p.Val1586Met)
c.3160G>A (p.Val1054Met)
n.5296G>A
 gnomAD v4
6g.52024791T>ACA450613860PKHD1c.5019A>T (p.Ala1673=)
c.4377A>T (p.Ala1459=)
c.4308A>T (p.Ala1436=)
c.4944A>T (p.Ala1648=)
c.4755A>T (p.Ala1585=)
c.3159A>T (p.Ala1053=)
n.5295A>T
6g.52024791T>CCA450613861PKHD1c.5019A>G (p.Ala1673=)
c.4377A>G (p.Ala1459=)
c.4308A>G (p.Ala1436=)
c.4944A>G (p.Ala1648=)
c.4755A>G (p.Ala1585=)
c.3159A>G (p.Ala1053=)
n.5295A>G
 dbSNP gnomAD v2 gnomAD v4
6g.52024791T>GCA450613862PKHD1c.5019A>C (p.Ala1673=)
c.4377A>C (p.Ala1459=)
c.4308A>C (p.Ala1436=)
c.4944A>C (p.Ala1648=)
c.4755A>C (p.Ala1585=)
c.3159A>C (p.Ala1053=)
n.5295A>C
6g.52024791T=CA1628646663PKHD1c.5019A= (p.Ala1673=)
c.4377A= (p.Ala1459=)
c.4308A= (p.Ala1436=)
c.4944A= (p.Ala1648=)
c.4755A= (p.Ala1585=)
c.3159A= (p.Ala1053=)
n.5295A=
6g.52024792G>ACA364430058PKHD1c.5018C>T (p.Ala1673Val)
c.4376C>T (p.Ala1459Val)
c.4307C>T (p.Ala1436Val)
c.4943C>T (p.Ala1648Val)
c.4754C>T (p.Ala1585Val)
c.3158C>T (p.Ala1053Val)
n.5294C>T
6g.52024792G>CCA364430060PKHD1c.5018C>G (p.Ala1673Gly)
c.4376C>G (p.Ala1459Gly)
c.4307C>G (p.Ala1436Gly)
c.4943C>G (p.Ala1648Gly)
c.4754C>G (p.Ala1585Gly)
c.3158C>G (p.Ala1053Gly)
n.5294C>G
6g.52024792G>TCA364430064PKHD1c.5018C>A (p.Ala1673Glu)
c.4376C>A (p.Ala1459Glu)
c.4307C>A (p.Ala1436Glu)
c.4943C>A (p.Ala1648Glu)
c.4754C>A (p.Ala1585Glu)
c.3158C>A (p.Ala1053Glu)
n.5294C>A
6g.52024793C>ACA364430067PKHD1c.5017G>T (p.Ala1673Ser)
c.4375G>T (p.Ala1459Ser)
c.4306G>T (p.Ala1436Ser)
c.4942G>T (p.Ala1648Ser)
c.4753G>T (p.Ala1585Ser)
c.3157G>T (p.Ala1053Ser)
n.5293G>T
6g.52024793C>GCA364430069PKHD1c.5017G>C (p.Ala1673Pro)
c.4375G>C (p.Ala1459Pro)
c.4306G>C (p.Ala1436Pro)
c.4942G>C (p.Ala1648Pro)
c.4753G>C (p.Ala1585Pro)
c.3157G>C (p.Ala1053Pro)
n.5293G>C
6g.52024793C>TCA364430071PKHD1c.5017G>A (p.Ala1673Thr)
c.4375G>A (p.Ala1459Thr)
c.4306G>A (p.Ala1436Thr)
c.4942G>A (p.Ala1648Thr)
c.4753G>A (p.Ala1585Thr)
c.3157G>A (p.Ala1053Thr)
n.5293G>A
6g.52024794A>CCA364430074PKHD1c.5016T>G (p.Phe1672Leu)
c.4374T>G (p.Phe1458Leu)
c.4305T>G (p.Phe1435Leu)
c.4941T>G (p.Phe1647Leu)
c.4752T>G (p.Phe1584Leu)
c.3156T>G (p.Phe1052Leu)
n.5292T>G
6g.52024794A>GCA450613863PKHD1c.5016T>C (p.Phe1672=)
c.4374T>C (p.Phe1458=)
c.4305T>C (p.Phe1435=)
c.4941T>C (p.Phe1647=)
c.4752T>C (p.Phe1584=)
c.3156T>C (p.Phe1052=)
n.5292T>C
6g.52024794A>TCA364430076PKHD1c.5016T>A (p.Phe1672Leu)
c.4374T>A (p.Phe1458Leu)
c.4305T>A (p.Phe1435Leu)
c.4941T>A (p.Phe1647Leu)
c.4752T>A (p.Phe1584Leu)
c.3156T>A (p.Phe1052Leu)
n.5292T>A
6g.52024795A>CCA364430079PKHD1c.5015T>G (p.Phe1672Cys)
c.4373T>G (p.Phe1458Cys)
c.4304T>G (p.Phe1435Cys)
c.4940T>G (p.Phe1647Cys)
c.4751T>G (p.Phe1584Cys)
c.3155T>G (p.Phe1052Cys)
n.5291T>G
6g.52024795A>GCA364430083PKHD1c.5015T>C (p.Phe1672Ser)
c.4373T>C (p.Phe1458Ser)
c.4304T>C (p.Phe1435Ser)
c.4940T>C (p.Phe1647Ser)
c.4751T>C (p.Phe1584Ser)
c.3155T>C (p.Phe1052Ser)
n.5291T>C
6g.52024795A>TCA364430082PKHD1c.5015T>A (p.Phe1672Tyr)
c.4373T>A (p.Phe1458Tyr)
c.4304T>A (p.Phe1435Tyr)
c.4940T>A (p.Phe1647Tyr)
c.4751T>A (p.Phe1584Tyr)
c.3155T>A (p.Phe1052Tyr)
n.5291T>A
6g.52024796A>CCA364430086PKHD1c.5014T>G (p.Phe1672Val)
c.4372T>G (p.Phe1458Val)
c.4303T>G (p.Phe1435Val)
c.4939T>G (p.Phe1647Val)
c.4750T>G (p.Phe1584Val)
c.3154T>G (p.Phe1052Val)
n.5290T>G
6g.52024796A>GCA364430090PKHD1c.5014T>C (p.Phe1672Leu)
c.4372T>C (p.Phe1458Leu)
c.4303T>C (p.Phe1435Leu)
c.4939T>C (p.Phe1647Leu)
c.4750T>C (p.Phe1584Leu)
c.3154T>C (p.Phe1052Leu)
n.5290T>C
6g.52024796A>TCA364430093PKHD1c.5014T>A (p.Phe1672Ile)
c.4372T>A (p.Phe1458Ile)
c.4303T>A (p.Phe1435Ile)
c.4939T>A (p.Phe1647Ile)
c.4750T>A (p.Phe1584Ile)
c.3154T>A (p.Phe1052Ile)
n.5290T>A
6g.52024797G>ACA3852628PKHD1c.5013C>T (p.Thr1671=)
c.4371C>T (p.Thr1457=)
c.4302C>T (p.Thr1434=)
c.4938C>T (p.Thr1646=)
c.4749C>T (p.Thr1583=)
c.3153C>T (p.Thr1051=)
n.5289C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.52024797G>CCA450613864PKHD1c.5013C>G (p.Thr1671=)
c.4371C>G (p.Thr1457=)
c.4302C>G (p.Thr1434=)
c.4938C>G (p.Thr1646=)
c.4749C>G (p.Thr1583=)
c.3153C>G (p.Thr1051=)
n.5289C>G
6g.52024797G=CA1628646668PKHD1c.5013C= (p.Thr1671=)
c.4371C= (p.Thr1457=)
c.4302C= (p.Thr1434=)
c.4938C= (p.Thr1646=)
c.4749C= (p.Thr1583=)
c.3153C= (p.Thr1051=)
n.5289C=
6g.52024797G>TCA450613865PKHD1c.5013C>A (p.Thr1671=)
c.4371C>A (p.Thr1457=)
c.4302C>A (p.Thr1434=)
c.4938C>A (p.Thr1646=)
c.4749C>A (p.Thr1583=)
c.3153C>A (p.Thr1051=)
n.5289C>A
6g.52024798G>ACA364430096PKHD1c.5012C>T (p.Thr1671Ile)
c.4370C>T (p.Thr1457Ile)
c.4301C>T (p.Thr1434Ile)
c.4937C>T (p.Thr1646Ile)
c.4748C>T (p.Thr1583Ile)
c.3152C>T (p.Thr1051Ile)
n.5288C>T
6g.52024798G>CCA364430098PKHD1c.5012C>G (p.Thr1671Ser)
c.4370C>G (p.Thr1457Ser)
c.4301C>G (p.Thr1434Ser)
c.4937C>G (p.Thr1646Ser)
c.4748C>G (p.Thr1583Ser)
c.3152C>G (p.Thr1051Ser)
n.5288C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.52024798G=CA1628646677PKHD1c.5012C= (p.Thr1671=)
c.4370C= (p.Thr1457=)
c.4301C= (p.Thr1434=)
c.4937C= (p.Thr1646=)
c.4748C= (p.Thr1583=)
c.3152C= (p.Thr1051=)
n.5288C=
6g.52024798G>TCA364430100PKHD1c.5012C>A (p.Thr1671Asn)
c.4370C>A (p.Thr1457Asn)
c.4301C>A (p.Thr1434Asn)
c.4937C>A (p.Thr1646Asn)
c.4748C>A (p.Thr1583Asn)
c.3152C>A (p.Thr1051Asn)
n.5288C>A
 dbSNP gnomAD v3 gnomAD v4
6g.52024799T>ACA364430109PKHD1c.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
6g.52024799T>CCA364430110PKHD1c.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
6g.52024799T>GCA364430111PKHD1c.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
6g.52024799T=CA1628646680PKHD1c.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=
6g.52024800T>ACA364430116PKHD1c.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
6g.52024800T>CCA450613866PKHD1c.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
6g.52024800T>GCA364430113PKHD1c.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
6g.52024801A>CCA364430120PKHD1c.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
6g.52024801A>GCA364430125PKHD1c.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
6g.52024801A>TCA364430127PKHD1c.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
6g.52024802A>CCA364430129PKHD1c.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
6g.52024802A>GCA450613867PKHD1c.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
6g.52024802A>TCA364430133PKHD1c.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
6g.52024803G>ACA450613868PKHD1c.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
6g.52024803G>CCA364430136PKHD1c.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
6g.52024803G>TCA450613869PKHD1c.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
6g.52024804A>CCA364430140PKHD1c.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
6g.52024804A>GCA364430137PKHD1c.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
6g.52024804A>TCA364430138PKHD1c.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
6g.52024805T>ACA364430143PKHD1c.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
6g.52024805T>CCA3852629PKHD1c.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
6g.52024805T>GCA364430146PKHD1c.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
6g.52024805T=CA1628646685PKHD1c.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=
6g.52024806G>ACA450613870PKHD1c.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
6g.52024806G>CCA364430148PKHD1c.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
6g.52024806G>TCA364430150PKHD1c.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
6g.52024807T>ACA364430161PKHD1c.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
6g.52024807T>CCA138946129PKHD1c.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
6g.52024807T>GCA364430162PKHD1c.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
6g.52024807T=CA1628646689PKHD1c.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=
6g.52024808C>ACA364430164PKHD1c.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
6g.52024808C=CA1628646694PKHD1c.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=
6g.52024808C>GCA364430171PKHD1c.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
6g.52024808C>TCA3852630PKHD1c.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
6g.52024809A>CCA364430172PKHD1c.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
6g.52024809A>GCA450613871PKHD1c.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
6g.52024809A>TCA364430174PKHD1c.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
6g.52024810T>ACA364430177PKHD1c.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
6g.52024810T>CCA364430179PKHD1c.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
6g.52024810T>GCA364430183PKHD1c.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
6g.52024811C>ACA364430185PKHD1c.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
6g.52024811C=CA1628646696PKHD1c.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=
6g.52024811C>GCA364430186PKHD1c.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
6g.52024811C>TCA364430187PKHD1c.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
6g.52024812G>ACA3852631PKHD1c.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
6g.52024812G>CCA364430188PKHD1c.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
6g.52024812G=CA1628646703PKHD1c.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=
6g.52024812G>TCA3852632PKHD1c.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
6g.52024813C>ACA364430190PKHD1c.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
6g.52024813C=CA1628646707PKHD1c.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=
6g.52024813C>GCA364430189PKHD1c.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
6g.52024813C>TCA364430191PKHD1c.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
6g.52024814T>ACA364430192PKHD1c.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
6g.52024814T>CCA364430194PKHD1c.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
6g.52024814T>GCA364430197PKHD1c.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
6g.52024815C>ACA364430199PKHD1c.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
6g.52024815C>GCA364430202PKHD1c.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
6g.52024815C>TCA450613872PKHD1c.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
6g.52024816T>ACA364430207PKHD1c.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
6g.52024816T>CCA3852633PKHD1c.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
6g.52024816T>GCA364430204PKHD1c.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
6g.52024816T=CA1628646712PKHD1c.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=
6g.52024817G>ACA364430209PKHD1c.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
6g.52024817G>CCA364430212PKHD1c.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
6g.52024817G>TCA364430213PKHD1c.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
6g.52024818A>CCA450613873PKHD1c.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
6g.52024818A>GCA450613874PKHD1c.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
6g.52024818A>TCA450613875PKHD1c.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
6g.52024819G>ACA253009PKHD1c.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
6g.52024819G>CCA364430222PKHD1c.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
6g.52024819G=CA1628646718PKHD1c.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=
6g.52024819G>TCA364430224PKHD1c.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
6g.52024820A=CA1628646725PKHD1c.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=
6g.52024820A>CCA364430227PKHD1c.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
6g.52024820A>GCA138946165PKHD1c.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
6g.52024820A>TCA364430229PKHD1c.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
6g.52024821_52024824delCA2679084931PKHD1c.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
6g.52024821A=CA1628646731PKHD1c.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=
6g.52024821A>CCA364430232PKHD1c.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
6g.52024821A>GCA450613876PKHD1c.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
6g.52024821A>TCA450613877PKHD1c.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
6g.52024822A>CCA364430235PKHD1c.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
6g.52024822A>GCA364430237PKHD1c.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
6g.52024822A>TCA364430239PKHD1c.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
6g.52024823T>ACA364430241PKHD1c.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
6g.52024823T>CCA364430243PKHD1c.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
6g.52024823T>GCA364430245PKHD1c.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
6g.52024824A>CCA450613878PKHD1c.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
6g.52024824A>GCA450613879PKHD1c.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
6g.52024824A>TCA450613880PKHD1c.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
6g.52024825G>ACA364430247PKHD1c.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
6g.52024825G>CCA364430249PKHD1c.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
6g.52024825G=CA1628646733PKHD1c.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=
6g.52024825G>TCA364430251PKHD1c.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
6g.52024826A>CCA364430262PKHD1c.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
6g.52024826A>GCA364430256PKHD1c.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
6g.52024826A>TCA364430253PKHD1c.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
6g.52024827G>ACA3852635PKHD1c.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
6g.52024827G>CCA3852634PKHD1c.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
6g.52024827G=CA1628646741PKHD1c.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=
6g.52024827G>TCA450613881PKHD1c.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
6g.52024828A>CCA364430267PKHD1c.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
6g.52024828A>GCA364430275PKHD1c.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
6g.52024828A>TCA364430280PKHD1c.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
6g.52024829T>ACA364430282PKHD1c.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
6g.52024829T>CCA364430286PKHD1c.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
6g.52024829T>GCA364430288PKHD1c.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
6g.52024829T=CA1628646745PKHD1c.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=
6g.52024830delCA450613882PKHD1c.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
6g.52024830C>ACA364430290PKHD1c.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
6g.52024830C=CA1628646750PKHD1c.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=
6g.52024830C>GCA364430291PKHD1c.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
6g.52024830C>TCA3852636PKHD1c.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
6g.52024831A>CCA364430298PKHD1c.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
6g.52024831A>GCA364430300PKHD1c.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
6g.52024831A>TCA364430301PKHD1c.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
6g.52024832A>CCA364430302PKHD1c.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
6g.52024832A>GCA450613883PKHD1c.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
6g.52024832A>TCA364430303PKHD1c.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
6g.52024833T>ACA364430305PKHD1c.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
6g.52024833T>CCA450613884PKHD1c.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
6g.52024833T>GCA364430306PKHD1c.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
6g.52024834T>ACA364430308PKHD1c.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
6g.52024834T>CCA364430310PKHD1c.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
6g.52024834T>GCA364430312PKHD1c.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
6g.52024835C>ACA364430315PKHD1c.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
6g.52024835C>GCA364430317PKHD1c.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
6g.52024835C>TCA364430318PKHD1c.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
6g.52024836T>ACA450613885PKHD1c.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
6g.52024836T>CCA450613886PKHD1c.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
6g.52024836T>GCA450613887PKHD1c.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
6g.52024837G>ACA364430321PKHD1c.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
6g.52024837G>CCA364430322PKHD1c.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
6g.52024837G=CA1628646759PKHD1c.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=
6g.52024837G>TCA364430324PKHD1c.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
6g.52024838G>ACA364430330PKHD1c.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
6g.52024838G>CCA364430328PKHD1c.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
6g.52024838G>TCA364430326PKHD1c.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
6g.52024839G>ACA450613888PKHD1c.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
6g.52024839G>CCA450613889PKHD1c.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
6g.52024839G=CA1628646765PKHD1c.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=
6g.52024839G>TCA450613890PKHD1c.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
6g.52024840G>ACA364430331PKHD1c.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
6g.52024840G>CCA364430333PKHD1c.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
6g.52024840G>TCA364430334PKHD1c.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
6g.52024841T>ACA364430336PKHD1c.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
6g.52024841T>CCA364430337PKHD1c.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
6g.52024841T>GCA364430339PKHD1c.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
6g.52024842A>CCA364430343PKHD1c.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
6g.52024842A>GCA450613891PKHD1c.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
6g.52024842A>TCA364430341PKHD1c.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
6g.52024843A>CCA364430347PKHD1c.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
6g.52024843A>GCA364430349PKHD1c.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
6g.52024843A>TCA364430351PKHD1c.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
6g.52024844A>CCA364430354PKHD1c.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
6g.52024844A>GCA364430356PKHD1c.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
6g.52024844A>TCA364430358PKHD1c.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
6g.52024845G>ACA450613892PKHD1c.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
6g.52024845G>CCA450613893PKHD1c.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
6g.52024845G>TCA450613894PKHD1c.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
6g.52024846G>ACA364430364PKHD1c.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
6g.52024846G>CCA364430360PKHD1c.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
6g.52024846G>TCA364430363PKHD1c.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
6g.52024847C>ACA364430367PKHD1c.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
6g.52024847C=CA1628646768PKHD1c.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=
6g.52024847C>GCA364430369PKHD1c.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
6g.52024847C>TCA364430372PKHD1c.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
6g.52024848C>ACA364430375PKHD1c.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
6g.52024848C=CA1628646771PKHD1c.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=
6g.52024848C>GCA364430376PKHD1c.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
6g.52024848C>TCA450613895PKHD1c.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
6g.52024849T>ACA364430379PKHD1c.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
6g.52024849T>CCA364430381PKHD1c.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
6g.52024849T>GCA364430384PKHD1c.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
6g.52024850T>ACA364430386PKHD1c.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
6g.52024850T>CCA364430388PKHD1c.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
6g.52024850T>GCA364430390PKHD1c.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
6g.52024851G>ACA450613896PKHD1c.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
6g.52024851G>CCA364430393PKHD1c.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
6g.52024851G>TCA364430395PKHD1c.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
6g.52024852T>ACA364430399PKHD1c.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
6g.52024852T>CCA364430403PKHD1c.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
6g.52024852T>GCA364430402PKHD1c.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
6g.52024852T=CA1628646774PKHD1c.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=
6g.52024853T>ACA364430406PKHD1c.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
6g.52024853T>CCA364430408PKHD1c.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
6g.52024853T>GCA364430409PKHD1c.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
6g.52024854A=CA1628646776PKHD1c.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=
6g.52024854A>CCA364430411PKHD1c.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
6g.52024854A>GCA3852637PKHD1c.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
6g.52024854A>TCA364430415PKHD1c.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
6g.52024855T>ACA364430417PKHD1c.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
6g.52024855T>CCA364430420PKHD1c.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
6g.52024855T>GCA364430423PKHD1c.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
6g.52024856A>CCA364430430PKHD1c.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
6g.52024856A>GCA364430432PKHD1c.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
6g.52024856A>TCA364430434PKHD1c.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
6g.52024857A>CCA450613897PKHD1c.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
6g.52024857A>GCA450613898PKHD1c.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
6g.52024857A>TCA450613899PKHD1c.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
6g.52024858C>ACA364430440PKHD1c.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
6g.52024858C=CA1628646784PKHD1c.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=
6g.52024858C>GCA364430439PKHD1c.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
6g.52024858C>TCA364430436PKHD1c.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
6g.52024859delCA2679084932PKHD1c.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
6g.52024859C>ACA364430443PKHD1c.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
6g.52024859C>GCA364430445PKHD1c.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
6g.52024859C>TCA364430447PKHD1c.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
6g.52024860A>CCA364430449PKHD1c.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
6g.52024860A>GCA450613900PKHD1c.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
6g.52024860A>TCA450613901PKHD1c.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
6g.52024861A>CCA364430451PKHD1c.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
6g.52024861A>GCA364430454PKHD1c.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
6g.52024861A>TCA364430457PKHD1c.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
6g.52024862T>ACA364430462PKHD1c.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
6g.52024862T>CCA364430463PKHD1c.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
6g.52024862T>GCA364430464PKHD1c.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
6g.52024863G>ACA450613902PKHD1c.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
6g.52024863G>CCA450613903PKHD1c.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
6g.52024863G>TCA450613904PKHD1c.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
6g.52024864A>CCA364430466PKHD1c.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
6g.52024864A>GCA364430467PKHD1c.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
6g.52024864A>TCA364430470PKHD1c.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
6g.52024865C>ACA364430473PKHD1c.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
6g.52024865C=CA1628646787PKHD1c.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=
6g.52024865C>GCA364430476PKHD1c.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
6g.52024865C>TCA364430472PKHD1c.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
6g.52024866T>ACA450613905PKHD1c.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
6g.52024866T>CCA3852638PKHD1c.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
6g.52024866T>GCA450613906PKHD1c.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
6g.52024866T=CA1628646793PKHD1c.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=
6g.52024867C>ACA364430480PKHD1c.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
6g.52024867C>GCA364430488PKHD1c.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
6g.52024867C>TCA364430485PKHD1c.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
6g.52024868C>ACA364430491PKHD1c.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
6g.52024868C>GCA364430492PKHD1c.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
6g.52024868C>TCA364430495PKHD1c.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
6g.52024869T>ACA450613907PKHD1c.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
6g.52024869T>CCA364430497PKHD1c.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
6g.52024869T>GCA450613908PKHD1c.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
6g.52024869T=CA1628646797PKHD1c.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=
6g.52024870A=CA1628646800PKHD1c.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=
6g.52024870A>CCA364430500PKHD1c.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
6g.52024870A>GCA3852639PKHD1c.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
6g.52024870A>TCA364430503PKHD1c.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
6g.52024871T>ACA364430506PKHD1c.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
6g.52024871T>CCA364430508PKHD1c.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
6g.52024871T>GCA364430510PKHD1c.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
6g.52024872G>ACA450613909PKHD1c.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
6g.52024872G>CCA364430517PKHD1c.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
6g.52024872G>TCA364430518PKHD1c.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
6g.52024873T>ACA364430526PKHD1c.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
6g.52024873T>CCA364430522PKHD1c.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
6g.52024873T>GCA364430525PKHD1c.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
6g.52024873T=CA1628646802PKHD1c.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=
6g.52024874G>ACA3852640PKHD1c.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
6g.52024874G>CCA364430530PKHD1c.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
6g.52024874G=CA1628646806PKHD1c.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=
6g.52024874G>TCA364430533PKHD1c.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
6g.52024875A>CCA364430536PKHD1c.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
6g.52024875A>GCA450613910PKHD1c.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
6g.52024875A>TCA364430537PKHD1c.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
6g.52024876T>ACA364430539PKHD1c.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
6g.52024876T>CCA364430541PKHD1c.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
6g.52024876T>GCA364430544PKHD1c.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
6g.52024877A=CA1628646809PKHD1c.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=
6g.52024877A>CCA364430547PKHD1c.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
6g.52024877A>GCA3852641PKHD1c.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
6g.52024877A>TCA364430551PKHD1c.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
6g.52024878C>ACA3852642PKHD1c.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
6g.52024878C=CA1628646815PKHD1c.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=
6g.52024878C>GCA364430555PKHD1c.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
6g.52024878C>TCA364430553PKHD1c.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
6g.52024881_52024887delCA2573140959PKHD1c.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
6g.52024879C>ACA364430563PKHD1c.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
6g.52024879C>GCA364430558PKHD1c.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
6g.52024879C>TCA364430560PKHD1c.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
6g.52024880A>CCA364430570PKHD1c.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
6g.52024880A>GCA364430572PKHD1c.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
6g.52024880A>TCA364430573PKHD1c.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
6g.52024881A>CCA450613911PKHD1c.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
6g.52024881A>GCA450613912PKHD1c.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
6g.52024881A>TCA450613913PKHD1c.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
6g.52024882A>CCA364430580PKHD1c.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
6g.52024882A>GCA364430578PKHD1c.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
6g.52024882A>TCA364430575PKHD1c.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
6g.52024883G>ACA364430581PKHD1c.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
6g.52024883G>CCA364430583PKHD1c.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
6g.52024883G>TCA364430588PKHD1c.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
6g.52024884T>ACA450613914PKHD1c.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
6g.52024884T>CCA450613915PKHD1c.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
6g.52024884T>GCA450613916PKHD1c.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
6g.52024885C>ACA364430590PKHD1c.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
6g.52024885C>GCA364430591PKHD1c.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
6g.52024885C>TCA364430593PKHD1c.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
6g.52024886C>ACA364430594PKHD1c.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
6g.52024886C>GCA364430597PKHD1c.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
6g.52024886C>TCA364430596PKHD1c.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
6g.52024887A=CA1628646817PKHD1c.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=
6g.52024887A>CCA364430599PKHD1c.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
6g.52024887A>GCA450613917PKHD1c.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
6g.52024887A>TCA364430602PKHD1c.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
6g.52024888T>ACA364430607PKHD1c.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
6g.52024888T>CCA364430608PKHD1c.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
6g.52024888T>GCA364430610PKHD1c.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
6g.52024889C>ACA364430613PKHD1c.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
6g.52024889C>GCA364430615PKHD1c.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
6g.52024889C>TCA364430617PKHD1c.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

Number of alleles fetched