Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.52024788delCA276998PKHD1c.5023del (p.Ala1675ProfsTer13)
c.4381del (p.Ala1461ProfsTer13)
c.4312del (p.Ala1438ProfsTer13)
c.4948del (p.Ala1650ProfsTer13)
c.4759del (p.Ala1587ProfsTer13)
c.3163del (p.Ala1055ProfsTer13)
n.5299del
 ClinVar dbSNP
6g.52024788C>ACA450613857PKHD1c.5022G>T (p.Val1674=)
c.4380G>T (p.Val1460=)
c.4311G>T (p.Val1437=)
c.4947G>T (p.Val1649=)
c.4758G>T (p.Val1586=)
c.3162G>T (p.Val1054=)
n.5298G>T
6g.52024788C=CA1628646657PKHD1c.5022G= (p.Val1674=)
c.4380G= (p.Val1460=)
c.4311G= (p.Val1437=)
c.4947G= (p.Val1649=)
c.4758G= (p.Val1586=)
c.3162G= (p.Val1054=)
n.5298G=
6g.52024788C>GCA450613858PKHD1c.5022G>C (p.Val1674=)
c.4380G>C (p.Val1460=)
c.4311G>C (p.Val1437=)
c.4947G>C (p.Val1649=)
c.4758G>C (p.Val1586=)
c.3162G>C (p.Val1054=)
n.5298G>C
6g.52024788C>TCA450613859PKHD1c.5022G>A (p.Val1674=)
c.4380G>A (p.Val1460=)
c.4311G>A (p.Val1437=)
c.4947G>A (p.Val1649=)
c.4758G>A (p.Val1586=)
c.3162G>A (p.Val1054=)
n.5298G>A
 dbSNP gnomAD v4
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

Number of alleles fetched