Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
6g.52024890T>ACA450613918PKHD1c.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
6g.52024890T>CCA244189PKHD1c.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
6g.52024890T>GCA450613919PKHD1c.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
6g.52024890T=CA1628646823PKHD1c.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=
6g.52024891A>CCA364430621PKHD1c.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
6g.52024891A>GCA364430623PKHD1c.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
6g.52024891A>TCA364430625PKHD1c.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
6g.52024892C>ACA364430629PKHD1c.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
6g.52024892C=CA1628646829PKHD1c.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=
6g.52024892C>GCA364430630PKHD1c.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
6g.52024892C>TCA364430626PKHD1c.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
6g.52024893C>ACA364430632PKHD1c.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
6g.52024893C>GCA364430633PKHD1c.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
6g.52024893C>TCA450613920PKHD1c.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
6g.52024894T>ACA364430638PKHD1c.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
6g.52024894T>CCA364430640PKHD1c.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
6g.52024894T>GCA364430643PKHD1c.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
6g.52024895C>ACA364430645PKHD1c.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
6g.52024895C>GCA364430647PKHD1c.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
6g.52024895C>TCA364430650PKHD1c.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
6g.52024896T>ACA450613921PKHD1c.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
6g.52024896T>CCA364430652PKHD1c.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
6g.52024896T>GCA450613922PKHD1c.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
6g.52024897A>CCA364430655PKHD1c.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
6g.52024897A>GCA364430657PKHD1c.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
6g.52024897A>TCA364430658PKHD1c.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
6g.52024898T>ACA364430662PKHD1c.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
6g.52024898T>CCA364430663PKHD1c.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
6g.52024898T>GCA364430668PKHD1c.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
6g.52024899T>ACA364430671PKHD1c.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
6g.52024899T>CCA450613923PKHD1c.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
6g.52024899T>GCA364430673PKHD1c.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
6g.52024900T>ACA364430676PKHD1c.4910A>T (p.Glu1637Val)
c.4268A>T (p.Glu1423Val)
c.4199A>T (p.Glu1400Val)
c.4835A>T (p.Glu1612Val)
c.4646A>T (p.Glu1549Val)
c.3050A>T (p.Glu1017Val)
n.5186A>T
6g.52024900T>CCA364430679PKHD1c.4910A>G (p.Glu1637Gly)
c.4268A>G (p.Glu1423Gly)
c.4199A>G (p.Glu1400Gly)
c.4835A>G (p.Glu1612Gly)
c.4646A>G (p.Glu1549Gly)
c.3050A>G (p.Glu1017Gly)
n.5186A>G
6g.52024900T>GCA364430680PKHD1c.4910A>C (p.Glu1637Ala)
c.4268A>C (p.Glu1423Ala)
c.4199A>C (p.Glu1400Ala)
c.4835A>C (p.Glu1612Ala)
c.4646A>C (p.Glu1549Ala)
c.3050A>C (p.Glu1017Ala)
n.5186A>C
6g.52024901C>ACA364430682PKHD1c.4909G>T (p.Glu1637Ter)
c.4267G>T (p.Glu1423Ter)
c.4198G>T (p.Glu1400Ter)
c.4834G>T (p.Glu1612Ter)
c.4645G>T (p.Glu1549Ter)
c.3049G>T (p.Glu1017Ter)
n.5185G>T
6g.52024901C>GCA364430683PKHD1c.4909G>C (p.Glu1637Gln)
c.4267G>C (p.Glu1423Gln)
c.4198G>C (p.Glu1400Gln)
c.4834G>C (p.Glu1612Gln)
c.4645G>C (p.Glu1549Gln)
c.3049G>C (p.Glu1017Gln)
n.5185G>C
6g.52024901C>TCA364430686PKHD1c.4909G>A (p.Glu1637Lys)
c.4267G>A (p.Glu1423Lys)
c.4198G>A (p.Glu1400Lys)
c.4834G>A (p.Glu1612Lys)
c.4645G>A (p.Glu1549Lys)
c.3049G>A (p.Glu1017Lys)
n.5185G>A
 COSMIC COSMIC
6g.52024902C>ACA450613924PKHD1c.4908G>T (p.Leu1636=)
c.4266G>T (p.Leu1422=)
c.4197G>T (p.Leu1399=)
c.4833G>T (p.Leu1611=)
c.4644G>T (p.Leu1548=)
c.3048G>T (p.Leu1016=)
n.5184G>T
6g.52024902C>GCA450613925PKHD1c.4908G>C (p.Leu1636=)
c.4266G>C (p.Leu1422=)
c.4197G>C (p.Leu1399=)
c.4833G>C (p.Leu1611=)
c.4644G>C (p.Leu1548=)
c.3048G>C (p.Leu1016=)
n.5184G>C
6g.52024902C>TCA450613926PKHD1c.4908G>A (p.Leu1636=)
c.4266G>A (p.Leu1422=)
c.4197G>A (p.Leu1399=)
c.4833G>A (p.Leu1611=)
c.4644G>A (p.Leu1548=)
c.3048G>A (p.Leu1016=)
n.5184G>A
 COSMIC COSMIC
6g.52024903A>CCA364430688PKHD1c.4907T>G (p.Leu1636Arg)
c.4265T>G (p.Leu1422Arg)
c.4196T>G (p.Leu1399Arg)
c.4832T>G (p.Leu1611Arg)
c.4643T>G (p.Leu1548Arg)
c.3047T>G (p.Leu1016Arg)
n.5183T>G
6g.52024903A>GCA364430690PKHD1c.4907T>C (p.Leu1636Pro)
c.4265T>C (p.Leu1422Pro)
c.4196T>C (p.Leu1399Pro)
c.4832T>C (p.Leu1611Pro)
c.4643T>C (p.Leu1548Pro)
c.3047T>C (p.Leu1016Pro)
n.5183T>C
6g.52024903A>TCA364430693PKHD1c.4907T>A (p.Leu1636Gln)
c.4265T>A (p.Leu1422Gln)
c.4196T>A (p.Leu1399Gln)
c.4832T>A (p.Leu1611Gln)
c.4643T>A (p.Leu1548Gln)
c.3047T>A (p.Leu1016Gln)
n.5183T>A
6g.52024904G>ACA450613927PKHD1c.4906C>T (p.Leu1636=)
c.4264C>T (p.Leu1422=)
c.4195C>T (p.Leu1399=)
c.4831C>T (p.Leu1611=)
c.4642C>T (p.Leu1548=)
c.3046C>T (p.Leu1016=)
n.5182C>T
6g.52024904G>CCA364430695PKHD1c.4906C>G (p.Leu1636Val)
c.4264C>G (p.Leu1422Val)
c.4195C>G (p.Leu1399Val)
c.4831C>G (p.Leu1611Val)
c.4642C>G (p.Leu1548Val)
c.3046C>G (p.Leu1016Val)
n.5182C>G
6g.52024904G>TCA364430697PKHD1c.4906C>A (p.Leu1636Met)
c.4264C>A (p.Leu1422Met)
c.4195C>A (p.Leu1399Met)
c.4831C>A (p.Leu1611Met)
c.4642C>A (p.Leu1548Met)
c.3046C>A (p.Leu1016Met)
n.5182C>A
6g.52024905G>ACA450613928PKHD1c.4905C>T (p.Ala1635=)
c.4263C>T (p.Ala1421=)
c.4194C>T (p.Ala1398=)
c.4830C>T (p.Ala1610=)
c.4641C>T (p.Ala1547=)
c.3045C>T (p.Ala1015=)
n.5181C>T
6g.52024905G>CCA450613929PKHD1c.4905C>G (p.Ala1635=)
c.4263C>G (p.Ala1421=)
c.4194C>G (p.Ala1398=)
c.4830C>G (p.Ala1610=)
c.4641C>G (p.Ala1547=)
c.3045C>G (p.Ala1015=)
n.5181C>G
6g.52024905G>TCA450613930PKHD1c.4905C>A (p.Ala1635=)
c.4263C>A (p.Ala1421=)
c.4194C>A (p.Ala1398=)
c.4830C>A (p.Ala1610=)
c.4641C>A (p.Ala1547=)
c.3045C>A (p.Ala1015=)
n.5181C>A
6g.52024906G>ACA364430704PKHD1c.4904C>T (p.Ala1635Val)
c.4262C>T (p.Ala1421Val)
c.4193C>T (p.Ala1398Val)
c.4829C>T (p.Ala1610Val)
c.4640C>T (p.Ala1547Val)
c.3044C>T (p.Ala1015Val)
n.5180C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52024906G>CCA364430708PKHD1c.4904C>G (p.Ala1635Gly)
c.4262C>G (p.Ala1421Gly)
c.4193C>G (p.Ala1398Gly)
c.4829C>G (p.Ala1610Gly)
c.4640C>G (p.Ala1547Gly)
c.3044C>G (p.Ala1015Gly)
n.5180C>G
6g.52024906G=CA1628646834PKHD1c.4904C= (p.Ala1635=)
c.4262C= (p.Ala1421=)
c.4193C= (p.Ala1398=)
c.4829C= (p.Ala1610=)
c.4640C= (p.Ala1547=)
c.3044C= (p.Ala1015=)
n.5180C=
6g.52024906G>TCA364430700PKHD1c.4904C>A (p.Ala1635Asp)
c.4262C>A (p.Ala1421Asp)
c.4193C>A (p.Ala1398Asp)
c.4829C>A (p.Ala1610Asp)
c.4640C>A (p.Ala1547Asp)
c.3044C>A (p.Ala1015Asp)
n.5180C>A
6g.52024907C>ACA364430713PKHD1c.4903G>T (p.Ala1635Ser)
c.4261G>T (p.Ala1421Ser)
c.4192G>T (p.Ala1398Ser)
c.4828G>T (p.Ala1610Ser)
c.4639G>T (p.Ala1547Ser)
c.3043G>T (p.Ala1015Ser)
n.5179G>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.52024907C=CA1628646839PKHD1c.4903G= (p.Ala1635=)
c.4261G= (p.Ala1421=)
c.4192G= (p.Ala1398=)
c.4828G= (p.Ala1610=)
c.4639G= (p.Ala1547=)
c.3043G= (p.Ala1015=)
n.5179G=
6g.52024907C>GCA364430714PKHD1c.4903G>C (p.Ala1635Pro)
c.4261G>C (p.Ala1421Pro)
c.4192G>C (p.Ala1398Pro)
c.4828G>C (p.Ala1610Pro)
c.4639G>C (p.Ala1547Pro)
c.3043G>C (p.Ala1015Pro)
n.5179G>C
6g.52024907C>TCA364430716PKHD1c.4903G>A (p.Ala1635Thr)
c.4261G>A (p.Ala1421Thr)
c.4192G>A (p.Ala1398Thr)
c.4828G>A (p.Ala1610Thr)
c.4639G>A (p.Ala1547Thr)
c.3043G>A (p.Ala1015Thr)
n.5179G>A
6g.52024908A>CCA450613931PKHD1c.4902T>G (p.Val1634=)
c.4260T>G (p.Val1420=)
c.4191T>G (p.Val1397=)
c.4827T>G (p.Val1609=)
c.4638T>G (p.Val1546=)
c.3042T>G (p.Val1014=)
n.5178T>G
 gnomAD v4
6g.52024908A>GCA450613932PKHD1c.4902T>C (p.Val1634=)
c.4260T>C (p.Val1420=)
c.4191T>C (p.Val1397=)
c.4827T>C (p.Val1609=)
c.4638T>C (p.Val1546=)
c.3042T>C (p.Val1014=)
n.5178T>C
 dbSNP
6g.52024908A>TCA450613933PKHD1c.4902T>A (p.Val1634=)
c.4260T>A (p.Val1420=)
c.4191T>A (p.Val1397=)
c.4827T>A (p.Val1609=)
c.4638T>A (p.Val1546=)
c.3042T>A (p.Val1014=)
n.5178T>A
6g.52024909A>CCA364430718PKHD1c.4901T>G (p.Val1634Gly)
c.4259T>G (p.Val1420Gly)
c.4190T>G (p.Val1397Gly)
c.4826T>G (p.Val1609Gly)
c.4637T>G (p.Val1546Gly)
c.3041T>G (p.Val1014Gly)
n.5177T>G
6g.52024909A>GCA364430719PKHD1c.4901T>C (p.Val1634Ala)
c.4259T>C (p.Val1420Ala)
c.4190T>C (p.Val1397Ala)
c.4826T>C (p.Val1609Ala)
c.4637T>C (p.Val1546Ala)
c.3041T>C (p.Val1014Ala)
n.5177T>C
 gnomAD v4
6g.52024909A>TCA364430720PKHD1c.4901T>A (p.Val1634Asp)
c.4259T>A (p.Val1420Asp)
c.4190T>A (p.Val1397Asp)
c.4826T>A (p.Val1609Asp)
c.4637T>A (p.Val1546Asp)
c.3041T>A (p.Val1014Asp)
n.5177T>A
6g.52024910C>ACA364430724PKHD1c.4900G>T (p.Val1634Phe)
c.4258G>T (p.Val1420Phe)
c.4189G>T (p.Val1397Phe)
c.4825G>T (p.Val1609Phe)
c.4636G>T (p.Val1546Phe)
c.3040G>T (p.Val1014Phe)
n.5176G>T
6g.52024910C>GCA364430727PKHD1c.4900G>C (p.Val1634Leu)
c.4258G>C (p.Val1420Leu)
c.4189G>C (p.Val1397Leu)
c.4825G>C (p.Val1609Leu)
c.4636G>C (p.Val1546Leu)
c.3040G>C (p.Val1014Leu)
n.5176G>C
6g.52024910C>TCA364430729PKHD1c.4900G>A (p.Val1634Ile)
c.4258G>A (p.Val1420Ile)
c.4189G>A (p.Val1397Ile)
c.4825G>A (p.Val1609Ile)
c.4636G>A (p.Val1546Ile)
c.3040G>A (p.Val1014Ile)
n.5176G>A
6g.52024911A>CCA450613934PKHD1c.4899T>G (p.Ser1633=)
c.4257T>G (p.Ser1419=)
c.4188T>G (p.Ser1396=)
c.4824T>G (p.Ser1608=)
c.4635T>G (p.Ser1545=)
c.3039T>G (p.Ser1013=)
n.5175T>G
6g.52024911A>GCA450613935PKHD1c.4899T>C (p.Ser1633=)
c.4257T>C (p.Ser1419=)
c.4188T>C (p.Ser1396=)
c.4824T>C (p.Ser1608=)
c.4635T>C (p.Ser1545=)
c.3039T>C (p.Ser1013=)
n.5175T>C
 ClinVar dbSNP
6g.52024911A>TCA450613936PKHD1c.4899T>A (p.Ser1633=)
c.4257T>A (p.Ser1419=)
c.4188T>A (p.Ser1396=)
c.4824T>A (p.Ser1608=)
c.4635T>A (p.Ser1545=)
c.3039T>A (p.Ser1013=)
n.5175T>A
6g.52024912G>ACA3852643PKHD1c.4898C>T (p.Ser1633Phe)
c.4256C>T (p.Ser1419Phe)
c.4187C>T (p.Ser1396Phe)
c.4823C>T (p.Ser1608Phe)
c.4634C>T (p.Ser1545Phe)
c.3038C>T (p.Ser1013Phe)
n.5174C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.52024912G>CCA364430732PKHD1c.4898C>G (p.Ser1633Cys)
c.4256C>G (p.Ser1419Cys)
c.4187C>G (p.Ser1396Cys)
c.4823C>G (p.Ser1608Cys)
c.4634C>G (p.Ser1545Cys)
c.3038C>G (p.Ser1013Cys)
n.5174C>G
6g.52024912G=CA1628646842PKHD1c.4898C= (p.Ser1633=)
c.4256C= (p.Ser1419=)
c.4187C= (p.Ser1396=)
c.4823C= (p.Ser1608=)
c.4634C= (p.Ser1545=)
c.3038C= (p.Ser1013=)
n.5174C=
6g.52024912G>TCA364430736PKHD1c.4898C>A (p.Ser1633Tyr)
c.4256C>A (p.Ser1419Tyr)
c.4187C>A (p.Ser1396Tyr)
c.4823C>A (p.Ser1608Tyr)
c.4634C>A (p.Ser1545Tyr)
c.3038C>A (p.Ser1013Tyr)
n.5174C>A
6g.52024913A=CA1628646846PKHD1c.4897T= (p.Ser1633=)
c.4255T= (p.Ser1419=)
c.4186T= (p.Ser1396=)
c.4822T= (p.Ser1608=)
c.4633T= (p.Ser1545=)
c.3037T= (p.Ser1013=)
n.5173T=
6g.52024913A>CCA364430744PKHD1c.4897T>G (p.Ser1633Ala)
c.4255T>G (p.Ser1419Ala)
c.4186T>G (p.Ser1396Ala)
c.4822T>G (p.Ser1608Ala)
c.4633T>G (p.Ser1545Ala)
c.3037T>G (p.Ser1013Ala)
n.5173T>G
6g.52024913A>GCA364430746PKHD1c.4897T>C (p.Ser1633Pro)
c.4255T>C (p.Ser1419Pro)
c.4186T>C (p.Ser1396Pro)
c.4822T>C (p.Ser1608Pro)
c.4633T>C (p.Ser1545Pro)
c.3037T>C (p.Ser1013Pro)
n.5173T>C
 dbSNP gnomAD v3 gnomAD v4
6g.52024913A>TCA364430742PKHD1c.4897T>A (p.Ser1633Thr)
c.4255T>A (p.Ser1419Thr)
c.4186T>A (p.Ser1396Thr)
c.4822T>A (p.Ser1608Thr)
c.4633T>A (p.Ser1545Thr)
c.3037T>A (p.Ser1013Thr)
n.5173T>A
6g.52024914G>ACA450613938PKHD1c.4896C>T (p.Gly1632=)
c.4254C>T (p.Gly1418=)
c.4185C>T (p.Gly1395=)
c.4821C>T (p.Gly1607=)
c.4632C>T (p.Gly1544=)
c.3036C>T (p.Gly1012=)
n.5172C>T
6g.52024914G>CCA450613939PKHD1c.4896C>G (p.Gly1632=)
c.4254C>G (p.Gly1418=)
c.4185C>G (p.Gly1395=)
c.4821C>G (p.Gly1607=)
c.4632C>G (p.Gly1544=)
c.3036C>G (p.Gly1012=)
n.5172C>G
6g.52024914G>TCA450613937PKHD1c.4896C>A (p.Gly1632=)
c.4254C>A (p.Gly1418=)
c.4185C>A (p.Gly1395=)
c.4821C>A (p.Gly1607=)
c.4632C>A (p.Gly1544=)
c.3036C>A (p.Gly1012=)
n.5172C>A
6g.52024915C>ACA364430749PKHD1c.4895G>T (p.Gly1632Val)
c.4253G>T (p.Gly1418Val)
c.4184G>T (p.Gly1395Val)
c.4820G>T (p.Gly1607Val)
c.4631G>T (p.Gly1544Val)
c.3035G>T (p.Gly1012Val)
n.5171G>T
6g.52024915C=CA1628646851PKHD1c.4895G= (p.Gly1632=)
c.4253G= (p.Gly1418=)
c.4184G= (p.Gly1395=)
c.4820G= (p.Gly1607=)
c.4631G= (p.Gly1544=)
c.3035G= (p.Gly1012=)
n.5171G=
6g.52024915C>GCA364430753PKHD1c.4895G>C (p.Gly1632Ala)
c.4253G>C (p.Gly1418Ala)
c.4184G>C (p.Gly1395Ala)
c.4820G>C (p.Gly1607Ala)
c.4631G>C (p.Gly1544Ala)
c.3035G>C (p.Gly1012Ala)
n.5171G>C
6g.52024915C>TCA3852644PKHD1c.4895G>A (p.Gly1632Asp)
c.4253G>A (p.Gly1418Asp)
c.4184G>A (p.Gly1395Asp)
c.4820G>A (p.Gly1607Asp)
c.4631G>A (p.Gly1544Asp)
c.3035G>A (p.Gly1012Asp)
n.5171G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024916C>ACA364430757PKHD1c.4894G>T (p.Gly1632Cys)
c.4252G>T (p.Gly1418Cys)
c.4183G>T (p.Gly1395Cys)
c.4819G>T (p.Gly1607Cys)
c.4630G>T (p.Gly1544Cys)
c.3034G>T (p.Gly1012Cys)
n.5170G>T
6g.52024916C>GCA364430759PKHD1c.4894G>C (p.Gly1632Arg)
c.4252G>C (p.Gly1418Arg)
c.4183G>C (p.Gly1395Arg)
c.4819G>C (p.Gly1607Arg)
c.4630G>C (p.Gly1544Arg)
c.3034G>C (p.Gly1012Arg)
n.5170G>C
6g.52024916C>TCA364430761PKHD1c.4894G>A (p.Gly1632Ser)
c.4252G>A (p.Gly1418Ser)
c.4183G>A (p.Gly1395Ser)
c.4819G>A (p.Gly1607Ser)
c.4630G>A (p.Gly1544Ser)
c.3034G>A (p.Gly1012Ser)
n.5170G>A
 gnomAD v4
6g.52024917A>CCA364430765PKHD1c.4893T>G (p.Asn1631Lys)
c.4251T>G (p.Asn1417Lys)
c.4182T>G (p.Asn1394Lys)
c.4818T>G (p.Asn1606Lys)
c.4629T>G (p.Asn1543Lys)
c.3033T>G (p.Asn1011Lys)
n.5169T>G
6g.52024917A>GCA450613940PKHD1c.4893T>C (p.Asn1631=)
c.4251T>C (p.Asn1417=)
c.4182T>C (p.Asn1394=)
c.4818T>C (p.Asn1606=)
c.4629T>C (p.Asn1543=)
c.3033T>C (p.Asn1011=)
n.5169T>C
6g.52024917A>TCA364430768PKHD1c.4893T>A (p.Asn1631Lys)
c.4251T>A (p.Asn1417Lys)
c.4182T>A (p.Asn1394Lys)
c.4818T>A (p.Asn1606Lys)
c.4629T>A (p.Asn1543Lys)
c.3033T>A (p.Asn1011Lys)
n.5169T>A
6g.52024918T>ACA364430774PKHD1c.4892A>T (p.Asn1631Ile)
c.4250A>T (p.Asn1417Ile)
c.4181A>T (p.Asn1394Ile)
c.4817A>T (p.Asn1606Ile)
c.4628A>T (p.Asn1543Ile)
c.3032A>T (p.Asn1011Ile)
n.5168A>T
6g.52024918T>CCA364430776PKHD1c.4892A>G (p.Asn1631Ser)
c.4250A>G (p.Asn1417Ser)
c.4181A>G (p.Asn1394Ser)
c.4817A>G (p.Asn1606Ser)
c.4628A>G (p.Asn1543Ser)
c.3032A>G (p.Asn1011Ser)
n.5168A>G
 dbSNP gnomAD v2 gnomAD v4
6g.52024918T>GCA364430779PKHD1c.4892A>C (p.Asn1631Thr)
c.4250A>C (p.Asn1417Thr)
c.4181A>C (p.Asn1394Thr)
c.4817A>C (p.Asn1606Thr)
c.4628A>C (p.Asn1543Thr)
c.3032A>C (p.Asn1011Thr)
n.5168A>C
6g.52024918T=CA1628646856PKHD1c.4892A= (p.Asn1631=)
c.4250A= (p.Asn1417=)
c.4181A= (p.Asn1394=)
c.4817A= (p.Asn1606=)
c.4628A= (p.Asn1543=)
c.3032A= (p.Asn1011=)
n.5168A=
6g.52024919T>ACA364430782PKHD1c.4891A>T (p.Asn1631Tyr)
c.4249A>T (p.Asn1417Tyr)
c.4180A>T (p.Asn1394Tyr)
c.4816A>T (p.Asn1606Tyr)
c.4627A>T (p.Asn1543Tyr)
c.3031A>T (p.Asn1011Tyr)
n.5167A>T
6g.52024919T>CCA364430785PKHD1c.4891A>G (p.Asn1631Asp)
c.4249A>G (p.Asn1417Asp)
c.4180A>G (p.Asn1394Asp)
c.4816A>G (p.Asn1606Asp)
c.4627A>G (p.Asn1543Asp)
c.3031A>G (p.Asn1011Asp)
n.5167A>G
 gnomAD v4
6g.52024919T>GCA364430789PKHD1c.4891A>C (p.Asn1631His)
c.4249A>C (p.Asn1417His)
c.4180A>C (p.Asn1394His)
c.4816A>C (p.Asn1606His)
c.4627A>C (p.Asn1543His)
c.3031A>C (p.Asn1011His)
n.5167A>C
 dbSNP
6g.52024919T=CA1628646859PKHD1c.4891A= (p.Asn1631=)
c.4249A= (p.Asn1417=)
c.4180A= (p.Asn1394=)
c.4816A= (p.Asn1606=)
c.4627A= (p.Asn1543=)
c.3031A= (p.Asn1011=)
n.5167A=
6g.52024919_52024920delinsTCCA1628646858PKHD1c.4890_4891delinsGA (p.Gly1630=)
c.4248_4249delinsGA (p.Gly1416=)
c.4179_4180delinsGA (p.Gly1393=)
c.4815_4816delinsGA (p.Gly1605=)
c.4626_4627delinsGA (p.Gly1542=)
c.3030_3031delinsGA (p.Gly1010=)
n.5166_5167delinsGA
6g.52024920C>ACA450613941PKHD1c.4890G>T (p.Gly1630=)
c.4248G>T (p.Gly1416=)
c.4179G>T (p.Gly1393=)
c.4815G>T (p.Gly1605=)
c.4626G>T (p.Gly1542=)
c.3030G>T (p.Gly1010=)
n.5166G>T
 gnomAD v4 COSMIC COSMIC
6g.52024920C>GCA450613942PKHD1c.4890G>C (p.Gly1630=)
c.4248G>C (p.Gly1416=)
c.4179G>C (p.Gly1393=)
c.4815G>C (p.Gly1605=)
c.4626G>C (p.Gly1542=)
c.3030G>C (p.Gly1010=)
n.5166G>C
6g.52024920C>TCA450613943PKHD1c.4890G>A (p.Gly1630=)
c.4248G>A (p.Gly1416=)
c.4179G>A (p.Gly1393=)
c.4815G>A (p.Gly1605=)
c.4626G>A (p.Gly1542=)
c.3030G>A (p.Gly1010=)
n.5166G>A
6g.52024922delCA16041051PKHD1c.4890del (p.Asn1631MetfsTer8)
c.4248del (p.Asn1417MetfsTer8)
c.4179del (p.Asn1394MetfsTer8)
c.4815del (p.Asn1606MetfsTer8)
c.4626del (p.Asn1543MetfsTer8)
c.3030del (p.Asn1011MetfsTer8)
n.5166del
 ClinVar dbSNP
6g.52024921C>ACA364430797PKHD1c.4889G>T (p.Gly1630Val)
c.4247G>T (p.Gly1416Val)
c.4178G>T (p.Gly1393Val)
c.4814G>T (p.Gly1605Val)
c.4625G>T (p.Gly1542Val)
c.3029G>T (p.Gly1010Val)
n.5165G>T
6g.52024921C>GCA364430793PKHD1c.4889G>C (p.Gly1630Ala)
c.4247G>C (p.Gly1416Ala)
c.4178G>C (p.Gly1393Ala)
c.4814G>C (p.Gly1605Ala)
c.4625G>C (p.Gly1542Ala)
c.3029G>C (p.Gly1010Ala)
n.5165G>C
6g.52024921C>TCA364430799PKHD1c.4889G>A (p.Gly1630Glu)
c.4247G>A (p.Gly1416Glu)
c.4178G>A (p.Gly1393Glu)
c.4814G>A (p.Gly1605Glu)
c.4625G>A (p.Gly1542Glu)
c.3029G>A (p.Gly1010Glu)
n.5165G>A
 COSMIC COSMIC
6g.52024922C>ACA364430802PKHD1c.4888G>T (p.Gly1630Trp)
c.4246G>T (p.Gly1416Trp)
c.4177G>T (p.Gly1393Trp)
c.4813G>T (p.Gly1605Trp)
c.4624G>T (p.Gly1542Trp)
c.3028G>T (p.Gly1010Trp)
n.5164G>T
6g.52024922C=CA1628646870PKHD1c.4888G= (p.Gly1630=)
c.4246G= (p.Gly1416=)
c.4177G= (p.Gly1393=)
c.4813G= (p.Gly1605=)
c.4624G= (p.Gly1542=)
c.3028G= (p.Gly1010=)
n.5164G=
6g.52024922C>GCA364430806PKHD1c.4888G>C (p.Gly1630Arg)
c.4246G>C (p.Gly1416Arg)
c.4177G>C (p.Gly1393Arg)
c.4813G>C (p.Gly1605Arg)
c.4624G>C (p.Gly1542Arg)
c.3028G>C (p.Gly1010Arg)
n.5164G>C
6g.52024922C>TCA3852645PKHD1c.4888G>A (p.Gly1630Arg)
c.4246G>A (p.Gly1416Arg)
c.4177G>A (p.Gly1393Arg)
c.4813G>A (p.Gly1605Arg)
c.4624G>A (p.Gly1542Arg)
c.3028G>A (p.Gly1010Arg)
n.5164G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.52024923T>ACA450613944PKHD1c.4887A>T (p.Thr1629=)
c.4245A>T (p.Thr1415=)
c.4176A>T (p.Thr1392=)
c.4812A>T (p.Thr1604=)
c.4623A>T (p.Thr1541=)
c.3027A>T (p.Thr1009=)
n.5163A>T
6g.52024923T>CCA450613945PKHD1c.4887A>G (p.Thr1629=)
c.4245A>G (p.Thr1415=)
c.4176A>G (p.Thr1392=)
c.4812A>G (p.Thr1604=)
c.4623A>G (p.Thr1541=)
c.3027A>G (p.Thr1009=)
n.5163A>G
6g.52024923T>GCA450613946PKHD1c.4887A>C (p.Thr1629=)
c.4245A>C (p.Thr1415=)
c.4176A>C (p.Thr1392=)
c.4812A>C (p.Thr1604=)
c.4623A>C (p.Thr1541=)
c.3027A>C (p.Thr1009=)
n.5163A>C
6g.52024924G>ACA3852646PKHD1c.4886C>T (p.Thr1629Ile)
c.4244C>T (p.Thr1415Ile)
c.4175C>T (p.Thr1392Ile)
c.4811C>T (p.Thr1604Ile)
c.4622C>T (p.Thr1541Ile)
c.3026C>T (p.Thr1009Ile)
n.5162C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024924G>CCA364430819PKHD1c.4886C>G (p.Thr1629Arg)
c.4244C>G (p.Thr1415Arg)
c.4175C>G (p.Thr1392Arg)
c.4811C>G (p.Thr1604Arg)
c.4622C>G (p.Thr1541Arg)
c.3026C>G (p.Thr1009Arg)
n.5162C>G
6g.52024924G=CA1628646873PKHD1c.4886C= (p.Thr1629=)
c.4244C= (p.Thr1415=)
c.4175C= (p.Thr1392=)
c.4811C= (p.Thr1604=)
c.4622C= (p.Thr1541=)
c.3026C= (p.Thr1009=)
n.5162C=
6g.52024924G>TCA364430821PKHD1c.4886C>A (p.Thr1629Lys)
c.4244C>A (p.Thr1415Lys)
c.4175C>A (p.Thr1392Lys)
c.4811C>A (p.Thr1604Lys)
c.4622C>A (p.Thr1541Lys)
c.3026C>A (p.Thr1009Lys)
n.5162C>A
6g.52024925T>ACA364430826PKHD1c.4885A>T (p.Thr1629Ser)
c.4243A>T (p.Thr1415Ser)
c.4174A>T (p.Thr1392Ser)
c.4810A>T (p.Thr1604Ser)
c.4621A>T (p.Thr1541Ser)
c.3025A>T (p.Thr1009Ser)
n.5161A>T
6g.52024925T>CCA3852647PKHD1c.4885A>G (p.Thr1629Ala)
c.4243A>G (p.Thr1415Ala)
c.4174A>G (p.Thr1392Ala)
c.4810A>G (p.Thr1604Ala)
c.4621A>G (p.Thr1541Ala)
c.3025A>G (p.Thr1009Ala)
n.5161A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024925T>GCA364430829PKHD1c.4885A>C (p.Thr1629Pro)
c.4243A>C (p.Thr1415Pro)
c.4174A>C (p.Thr1392Pro)
c.4810A>C (p.Thr1604Pro)
c.4621A>C (p.Thr1541Pro)
c.3025A>C (p.Thr1009Pro)
n.5161A>C
6g.52024925T=CA1628646876PKHD1c.4885A= (p.Thr1629=)
c.4243A= (p.Thr1415=)
c.4174A= (p.Thr1392=)
c.4810A= (p.Thr1604=)
c.4621A= (p.Thr1541=)
c.3025A= (p.Thr1009=)
n.5161A=
6g.52024926G>ACA450613947PKHD1c.4884C>T (p.Pro1628=)
c.4242C>T (p.Pro1414=)
c.4173C>T (p.Pro1391=)
c.4809C>T (p.Pro1603=)
c.4620C>T (p.Pro1540=)
c.3024C>T (p.Pro1008=)
n.5160C>T
6g.52024926G>CCA450613948PKHD1c.4884C>G (p.Pro1628=)
c.4242C>G (p.Pro1414=)
c.4173C>G (p.Pro1391=)
c.4809C>G (p.Pro1603=)
c.4620C>G (p.Pro1540=)
c.3024C>G (p.Pro1008=)
n.5160C>G
 dbSNP
6g.52024926G>TCA450613949PKHD1c.4884C>A (p.Pro1628=)
c.4242C>A (p.Pro1414=)
c.4173C>A (p.Pro1391=)
c.4809C>A (p.Pro1603=)
c.4620C>A (p.Pro1540=)
c.3024C>A (p.Pro1008=)
n.5160C>A
6g.52024928delCA2679084933PKHD1c.4884del (p.Thr1629GlnfsTer10)
c.4242del (p.Thr1415GlnfsTer10)
c.4173del (p.Thr1392GlnfsTer10)
c.4809del (p.Thr1604GlnfsTer10)
c.4620del (p.Thr1541GlnfsTer10)
c.3024del (p.Thr1009GlnfsTer10)
n.5160del
 gnomAD v4
6g.52024927G>ACA364430831PKHD1c.4883C>T (p.Pro1628Leu)
c.4241C>T (p.Pro1414Leu)
c.4172C>T (p.Pro1391Leu)
c.4808C>T (p.Pro1603Leu)
c.4619C>T (p.Pro1540Leu)
c.3023C>T (p.Pro1008Leu)
n.5159C>T
 gnomAD v4 COSMIC COSMIC
6g.52024927G>CCA364430835PKHD1c.4883C>G (p.Pro1628Arg)
c.4241C>G (p.Pro1414Arg)
c.4172C>G (p.Pro1391Arg)
c.4808C>G (p.Pro1603Arg)
c.4619C>G (p.Pro1540Arg)
c.3023C>G (p.Pro1008Arg)
n.5159C>G
6g.52024927G>TCA364430837PKHD1c.4883C>A (p.Pro1628His)
c.4241C>A (p.Pro1414His)
c.4172C>A (p.Pro1391His)
c.4808C>A (p.Pro1603His)
c.4619C>A (p.Pro1540His)
c.3023C>A (p.Pro1008His)
n.5159C>A
6g.52024928G>ACA138946306PKHD1c.4882C>T (p.Pro1628Ser)
c.4240C>T (p.Pro1414Ser)
c.4171C>T (p.Pro1391Ser)
c.4807C>T (p.Pro1603Ser)
c.4618C>T (p.Pro1540Ser)
c.3022C>T (p.Pro1008Ser)
n.5158C>T
 dbSNP gnomAD v4
6g.52024928G>CCA3852648PKHD1c.4882C>G (p.Pro1628Ala)
c.4240C>G (p.Pro1414Ala)
c.4171C>G (p.Pro1391Ala)
c.4807C>G (p.Pro1603Ala)
c.4618C>G (p.Pro1540Ala)
c.3022C>G (p.Pro1008Ala)
n.5158C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.52024928G=CA1628646880PKHD1c.4882C= (p.Pro1628=)
c.4240C= (p.Pro1414=)
c.4171C= (p.Pro1391=)
c.4807C= (p.Pro1603=)
c.4618C= (p.Pro1540=)
c.3022C= (p.Pro1008=)
n.5158C=
6g.52024928G>TCA364430840PKHD1c.4882C>A (p.Pro1628Thr)
c.4240C>A (p.Pro1414Thr)
c.4171C>A (p.Pro1391Thr)
c.4807C>A (p.Pro1603Thr)
c.4618C>A (p.Pro1540Thr)
c.3022C>A (p.Pro1008Thr)
n.5158C>A
6g.52024929A>CCA450613951PKHD1c.4881T>G (p.Val1627=)
c.4239T>G (p.Val1413=)
c.4170T>G (p.Val1390=)
c.4806T>G (p.Val1602=)
c.4617T>G (p.Val1539=)
c.3021T>G (p.Val1007=)
n.5157T>G
6g.52024929A>GCA450613952PKHD1c.4881T>C (p.Val1627=)
c.4239T>C (p.Val1413=)
c.4170T>C (p.Val1390=)
c.4806T>C (p.Val1602=)
c.4617T>C (p.Val1539=)
c.3021T>C (p.Val1007=)
n.5157T>C
6g.52024929A>TCA450613950PKHD1c.4881T>A (p.Val1627=)
c.4239T>A (p.Val1413=)
c.4170T>A (p.Val1390=)
c.4806T>A (p.Val1602=)
c.4617T>A (p.Val1539=)
c.3021T>A (p.Val1007=)
n.5157T>A
6g.52024930A=CA1628646883PKHD1c.4880T= (p.Val1627=)
c.4238T= (p.Val1413=)
c.4169T= (p.Val1390=)
c.4805T= (p.Val1602=)
c.4616T= (p.Val1539=)
c.3020T= (p.Val1007=)
n.5156T=
6g.52024930A>CCA364430855PKHD1c.4880T>G (p.Val1627Gly)
c.4238T>G (p.Val1413Gly)
c.4169T>G (p.Val1390Gly)
c.4805T>G (p.Val1602Gly)
c.4616T>G (p.Val1539Gly)
c.3020T>G (p.Val1007Gly)
n.5156T>G
6g.52024930A>GCA364430857PKHD1c.4880T>C (p.Val1627Ala)
c.4238T>C (p.Val1413Ala)
c.4169T>C (p.Val1390Ala)
c.4805T>C (p.Val1602Ala)
c.4616T>C (p.Val1539Ala)
c.3020T>C (p.Val1007Ala)
n.5156T>C
 ClinVar dbSNP gnomAD v4
6g.52024930A>TCA364430860PKHD1c.4880T>A (p.Val1627Asp)
c.4238T>A (p.Val1413Asp)
c.4169T>A (p.Val1390Asp)
c.4805T>A (p.Val1602Asp)
c.4616T>A (p.Val1539Asp)
c.3020T>A (p.Val1007Asp)
n.5156T>A
6g.52024931C>ACA364430864PKHD1c.4879G>T (p.Val1627Phe)
c.4237G>T (p.Val1413Phe)
c.4168G>T (p.Val1390Phe)
c.4804G>T (p.Val1602Phe)
c.4615G>T (p.Val1539Phe)
c.3019G>T (p.Val1007Phe)
n.5155G>T
6g.52024931C>GCA364430866PKHD1c.4879G>C (p.Val1627Leu)
c.4237G>C (p.Val1413Leu)
c.4168G>C (p.Val1390Leu)
c.4804G>C (p.Val1602Leu)
c.4615G>C (p.Val1539Leu)
c.3019G>C (p.Val1007Leu)
n.5155G>C
6g.52024931C>TCA364430868PKHD1c.4879G>A (p.Val1627Ile)
c.4237G>A (p.Val1413Ile)
c.4168G>A (p.Val1390Ile)
c.4804G>A (p.Val1602Ile)
c.4615G>A (p.Val1539Ile)
c.3019G>A (p.Val1007Ile)
n.5155G>A
6g.52024932A>CCA364430872PKHD1c.4878T>G (p.Ile1626Met)
c.4236T>G (p.Ile1412Met)
c.4167T>G (p.Ile1389Met)
c.4803T>G (p.Ile1601Met)
c.4614T>G (p.Ile1538Met)
c.3018T>G (p.Ile1006Met)
n.5154T>G
6g.52024932A>GCA450613953PKHD1c.4878T>C (p.Ile1626=)
c.4236T>C (p.Ile1412=)
c.4167T>C (p.Ile1389=)
c.4803T>C (p.Ile1601=)
c.4614T>C (p.Ile1538=)
c.3018T>C (p.Ile1006=)
n.5154T>C
6g.52024932A>TCA450613954PKHD1c.4878T>A (p.Ile1626=)
c.4236T>A (p.Ile1412=)
c.4167T>A (p.Ile1389=)
c.4803T>A (p.Ile1601=)
c.4614T>A (p.Ile1538=)
c.3018T>A (p.Ile1006=)
n.5154T>A
6g.52024933A>CCA364430875PKHD1c.4877T>G (p.Ile1626Ser)
c.4235T>G (p.Ile1412Ser)
c.4166T>G (p.Ile1389Ser)
c.4802T>G (p.Ile1601Ser)
c.4613T>G (p.Ile1538Ser)
c.3017T>G (p.Ile1006Ser)
n.5153T>G
6g.52024933A>GCA364430877PKHD1c.4877T>C (p.Ile1626Thr)
c.4235T>C (p.Ile1412Thr)
c.4166T>C (p.Ile1389Thr)
c.4802T>C (p.Ile1601Thr)
c.4613T>C (p.Ile1538Thr)
c.3017T>C (p.Ile1006Thr)
n.5153T>C
6g.52024933A>TCA364430880PKHD1c.4877T>A (p.Ile1626Asn)
c.4235T>A (p.Ile1412Asn)
c.4166T>A (p.Ile1389Asn)
c.4802T>A (p.Ile1601Asn)
c.4613T>A (p.Ile1538Asn)
c.3017T>A (p.Ile1006Asn)
n.5153T>A
6g.52024934T>ACA3852649PKHD1c.4876A>T (p.Ile1626Phe)
c.4234A>T (p.Ile1412Phe)
c.4165A>T (p.Ile1389Phe)
c.4801A>T (p.Ile1601Phe)
c.4612A>T (p.Ile1538Phe)
c.3016A>T (p.Ile1006Phe)
n.5152A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52024934T>CCA10604837PKHD1c.4876A>G (p.Ile1626Val)
c.4234A>G (p.Ile1412Val)
c.4165A>G (p.Ile1389Val)
c.4801A>G (p.Ile1601Val)
c.4612A>G (p.Ile1538Val)
c.3016A>G (p.Ile1006Val)
n.5152A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52024934T>GCA364430886PKHD1c.4876A>C (p.Ile1626Leu)
c.4234A>C (p.Ile1412Leu)
c.4165A>C (p.Ile1389Leu)
c.4801A>C (p.Ile1601Leu)
c.4612A>C (p.Ile1538Leu)
c.3016A>C (p.Ile1006Leu)
n.5152A>C
6g.52024934T=CA1628646886PKHD1c.4876A= (p.Ile1626=)
c.4234A= (p.Ile1412=)
c.4165A= (p.Ile1389=)
c.4801A= (p.Ile1601=)
c.4612A= (p.Ile1538=)
c.3016A= (p.Ile1006=)
n.5152A=
6g.52024935G>ACA450613959PKHD1c.4875C>T (p.Cys1625=)
c.4233C>T (p.Cys1411=)
c.4164C>T (p.Cys1388=)
c.4800C>T (p.Cys1600=)
c.4611C>T (p.Cys1537=)
c.3015C>T (p.Cys1005=)
n.5151C>T
6g.52024935G>CCA364430896PKHD1c.4875C>G (p.Cys1625Trp)
c.4233C>G (p.Cys1411Trp)
c.4164C>G (p.Cys1388Trp)
c.4800C>G (p.Cys1600Trp)
c.4611C>G (p.Cys1537Trp)
c.3015C>G (p.Cys1005Trp)
n.5151C>G
6g.52024935G>TCA364430894PKHD1c.4875C>A (p.Cys1625Ter)
c.4233C>A (p.Cys1411Ter)
c.4164C>A (p.Cys1388Ter)
c.4800C>A (p.Cys1600Ter)
c.4611C>A (p.Cys1537Ter)
c.3015C>A (p.Cys1005Ter)
n.5151C>A
6g.52024936C>ACA364430899PKHD1c.4874G>T (p.Cys1625Phe)
c.4232G>T (p.Cys1411Phe)
c.4163G>T (p.Cys1388Phe)
c.4799G>T (p.Cys1600Phe)
c.4610G>T (p.Cys1537Phe)
c.3014G>T (p.Cys1005Phe)
n.5150G>T
6g.52024936C>GCA364430902PKHD1c.4874G>C (p.Cys1625Ser)
c.4232G>C (p.Cys1411Ser)
c.4163G>C (p.Cys1388Ser)
c.4799G>C (p.Cys1600Ser)
c.4610G>C (p.Cys1537Ser)
c.3014G>C (p.Cys1005Ser)
n.5150G>C
6g.52024936C>TCA364430905PKHD1c.4874G>A (p.Cys1625Tyr)
c.4232G>A (p.Cys1411Tyr)
c.4163G>A (p.Cys1388Tyr)
c.4799G>A (p.Cys1600Tyr)
c.4610G>A (p.Cys1537Tyr)
c.3014G>A (p.Cys1005Tyr)
n.5150G>A
6g.52024937A>CCA364430906PKHD1c.4873T>G (p.Cys1625Gly)
c.4231T>G (p.Cys1411Gly)
c.4162T>G (p.Cys1388Gly)
c.4798T>G (p.Cys1600Gly)
c.4609T>G (p.Cys1537Gly)
c.3013T>G (p.Cys1005Gly)
n.5149T>G
6g.52024937A>GCA364430907PKHD1c.4873T>C (p.Cys1625Arg)
c.4231T>C (p.Cys1411Arg)
c.4162T>C (p.Cys1388Arg)
c.4798T>C (p.Cys1600Arg)
c.4609T>C (p.Cys1537Arg)
c.3013T>C (p.Cys1005Arg)
n.5149T>C
6g.52024937A>TCA364430908PKHD1c.4873T>A (p.Cys1625Ser)
c.4231T>A (p.Cys1411Ser)
c.4162T>A (p.Cys1388Ser)
c.4798T>A (p.Cys1600Ser)
c.4609T>A (p.Cys1537Ser)
c.3013T>A (p.Cys1005Ser)
n.5149T>A
6g.52024938C>ACA450613962PKHD1c.4872G>T (p.Arg1624=)
c.4230G>T (p.Arg1410=)
c.4161G>T (p.Arg1387=)
c.4797G>T (p.Arg1599=)
c.4608G>T (p.Arg1536=)
c.3012G>T (p.Arg1004=)
n.5148G>T
6g.52024938C>GCA450613963PKHD1c.4872G>C (p.Arg1624=)
c.4230G>C (p.Arg1410=)
c.4161G>C (p.Arg1387=)
c.4797G>C (p.Arg1599=)
c.4608G>C (p.Arg1536=)
c.3012G>C (p.Arg1004=)
n.5148G>C
6g.52024938C>TCA450613964PKHD1c.4872G>A (p.Arg1624=)
c.4230G>A (p.Arg1410=)
c.4161G>A (p.Arg1387=)
c.4797G>A (p.Arg1599=)
c.4608G>A (p.Arg1536=)
c.3012G>A (p.Arg1004=)
n.5148G>A
 gnomAD v4
6g.52024939C>ACA364430918PKHD1c.4871G>T (p.Arg1624Leu)
c.4229G>T (p.Arg1410Leu)
c.4160G>T (p.Arg1387Leu)
c.4796G>T (p.Arg1599Leu)
c.4607G>T (p.Arg1536Leu)
c.3011G>T (p.Arg1004Leu)
n.5147G>T
6g.52024939C=CA1628646892PKHD1c.4871G= (p.Arg1624=)
c.4229G= (p.Arg1410=)
c.4160G= (p.Arg1387=)
c.4796G= (p.Arg1599=)
c.4607G= (p.Arg1536=)
c.3011G= (p.Arg1004=)
n.5147G=
6g.52024939C>GCA364430910PKHD1c.4871G>C (p.Arg1624Pro)
c.4229G>C (p.Arg1410Pro)
c.4160G>C (p.Arg1387Pro)
c.4796G>C (p.Arg1599Pro)
c.4607G>C (p.Arg1536Pro)
c.3011G>C (p.Arg1004Pro)
n.5147G>C
6g.52024939C>TCA3852650PKHD1c.4871G>A (p.Arg1624Gln)
c.4229G>A (p.Arg1410Gln)
c.4160G>A (p.Arg1387Gln)
c.4796G>A (p.Arg1599Gln)
c.4607G>A (p.Arg1536Gln)
c.3011G>A (p.Arg1004Gln)
n.5147G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024940G>ACA334736PKHD1c.4870C>T (p.Arg1624Trp)
c.4228C>T (p.Arg1410Trp)
c.4159C>T (p.Arg1387Trp)
c.4795C>T (p.Arg1599Trp)
c.4606C>T (p.Arg1536Trp)
c.3010C>T (p.Arg1004Trp)
n.5146C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.52024940G>CCA364430923PKHD1c.4870C>G (p.Arg1624Gly)
c.4228C>G (p.Arg1410Gly)
c.4159C>G (p.Arg1387Gly)
c.4795C>G (p.Arg1599Gly)
c.4606C>G (p.Arg1536Gly)
c.3010C>G (p.Arg1004Gly)
n.5146C>G
 gnomAD v4
6g.52024940G=CA1628646899PKHD1c.4870C= (p.Arg1624=)
c.4228C= (p.Arg1410=)
c.4159C= (p.Arg1387=)
c.4795C= (p.Arg1599=)
c.4606C= (p.Arg1536=)
c.3010C= (p.Arg1004=)
n.5146C=
6g.52024940G>TCA450613967PKHD1c.4870C>A (p.Arg1624=)
c.4228C>A (p.Arg1410=)
c.4159C>A (p.Arg1387=)
c.4795C>A (p.Arg1599=)
c.4606C>A (p.Arg1536=)
c.3010C>A (p.Arg1004=)
n.5146C>A
 ClinVar
6g.52024941G>ACA450613970PKHD1c.4869C>T (p.Ile1623=)
c.4227C>T (p.Ile1409=)
c.4158C>T (p.Ile1386=)
c.4794C>T (p.Ile1598=)
c.4605C>T (p.Ile1535=)
c.3009C>T (p.Ile1003=)
n.5145C>T
6g.52024941G>CCA364430926PKHD1c.4869C>G (p.Ile1623Met)
c.4227C>G (p.Ile1409Met)
c.4158C>G (p.Ile1386Met)
c.4794C>G (p.Ile1598Met)
c.4605C>G (p.Ile1535Met)
c.3009C>G (p.Ile1003Met)
n.5145C>G
6g.52024941G>TCA450613969PKHD1c.4869C>A (p.Ile1623=)
c.4227C>A (p.Ile1409=)
c.4158C>A (p.Ile1386=)
c.4794C>A (p.Ile1598=)
c.4605C>A (p.Ile1535=)
c.3009C>A (p.Ile1003=)
n.5145C>A
6g.52024942A=CA1628646903PKHD1c.4868T= (p.Ile1623=)
c.4226T= (p.Ile1409=)
c.4157T= (p.Ile1386=)
c.4793T= (p.Ile1598=)
c.4604T= (p.Ile1535=)
c.3008T= (p.Ile1003=)
n.5144T=
6g.52024942A>CCA138946350PKHD1c.4868T>G (p.Ile1623Ser)
c.4226T>G (p.Ile1409Ser)
c.4157T>G (p.Ile1386Ser)
c.4793T>G (p.Ile1598Ser)
c.4604T>G (p.Ile1535Ser)
c.3008T>G (p.Ile1003Ser)
n.5144T>G
 dbSNP
6g.52024942A>GCA364430931PKHD1c.4868T>C (p.Ile1623Thr)
c.4226T>C (p.Ile1409Thr)
c.4157T>C (p.Ile1386Thr)
c.4793T>C (p.Ile1598Thr)
c.4604T>C (p.Ile1535Thr)
c.3008T>C (p.Ile1003Thr)
n.5144T>C
6g.52024942A>TCA364430933PKHD1c.4868T>A (p.Ile1623Asn)
c.4226T>A (p.Ile1409Asn)
c.4157T>A (p.Ile1386Asn)
c.4793T>A (p.Ile1598Asn)
c.4604T>A (p.Ile1535Asn)
c.3008T>A (p.Ile1003Asn)
n.5144T>A
6g.52024943T>ACA364430938PKHD1c.4867A>T (p.Ile1623Phe)
c.4225A>T (p.Ile1409Phe)
c.4156A>T (p.Ile1386Phe)
c.4792A>T (p.Ile1598Phe)
c.4603A>T (p.Ile1535Phe)
c.3007A>T (p.Ile1003Phe)
n.5143A>T
6g.52024943T>CCA364430941PKHD1c.4867A>G (p.Ile1623Val)
c.4225A>G (p.Ile1409Val)
c.4156A>G (p.Ile1386Val)
c.4792A>G (p.Ile1598Val)
c.4603A>G (p.Ile1535Val)
c.3007A>G (p.Ile1003Val)
n.5143A>G
6g.52024943T>GCA364430939PKHD1c.4867A>C (p.Ile1623Leu)
c.4225A>C (p.Ile1409Leu)
c.4156A>C (p.Ile1386Leu)
c.4792A>C (p.Ile1598Leu)
c.4603A>C (p.Ile1535Leu)
c.3007A>C (p.Ile1003Leu)
n.5143A>C
 dbSNP gnomAD v4
6g.52024944G>ACA450613971PKHD1c.4866C>T (p.Leu1622=)
c.4224C>T (p.Leu1408=)
c.4155C>T (p.Leu1385=)
c.4791C>T (p.Leu1597=)
c.4602C>T (p.Leu1534=)
c.3006C>T (p.Leu1002=)
n.5142C>T
 gnomAD v4
6g.52024944G>CCA450613972PKHD1c.4866C>G (p.Leu1622=)
c.4224C>G (p.Leu1408=)
c.4155C>G (p.Leu1385=)
c.4791C>G (p.Leu1597=)
c.4602C>G (p.Leu1534=)
c.3006C>G (p.Leu1002=)
n.5142C>G
6g.52024944G=CA1628646907PKHD1c.4866C= (p.Leu1622=)
c.4224C= (p.Leu1408=)
c.4155C= (p.Leu1385=)
c.4791C= (p.Leu1597=)
c.4602C= (p.Leu1534=)
c.3006C= (p.Leu1002=)
n.5142C=
6g.52024944G>TCA3852651PKHD1c.4866C>A (p.Leu1622=)
c.4224C>A (p.Leu1408=)
c.4155C>A (p.Leu1385=)
c.4791C>A (p.Leu1597=)
c.4602C>A (p.Leu1534=)
c.3006C>A (p.Leu1002=)
n.5142C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024945A>CCA364430945PKHD1c.4865T>G (p.Leu1622Arg)
c.4223T>G (p.Leu1408Arg)
c.4154T>G (p.Leu1385Arg)
c.4790T>G (p.Leu1597Arg)
c.4601T>G (p.Leu1534Arg)
c.3005T>G (p.Leu1002Arg)
n.5141T>G
6g.52024945A>GCA364430947PKHD1c.4865T>C (p.Leu1622Pro)
c.4223T>C (p.Leu1408Pro)
c.4154T>C (p.Leu1385Pro)
c.4790T>C (p.Leu1597Pro)
c.4601T>C (p.Leu1534Pro)
c.3005T>C (p.Leu1002Pro)
n.5141T>C
6g.52024945A>TCA364430953PKHD1c.4865T>A (p.Leu1622His)
c.4223T>A (p.Leu1408His)
c.4154T>A (p.Leu1385His)
c.4790T>A (p.Leu1597His)
c.4601T>A (p.Leu1534His)
c.3005T>A (p.Leu1002His)
n.5141T>A
6g.52024946G>ACA3852652PKHD1c.4864C>T (p.Leu1622Phe)
c.4222C>T (p.Leu1408Phe)
c.4153C>T (p.Leu1385Phe)
c.4789C>T (p.Leu1597Phe)
c.4600C>T (p.Leu1534Phe)
c.3004C>T (p.Leu1002Phe)
n.5140C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52024946G>CCA364430957PKHD1c.4864C>G (p.Leu1622Val)
c.4222C>G (p.Leu1408Val)
c.4153C>G (p.Leu1385Val)
c.4789C>G (p.Leu1597Val)
c.4600C>G (p.Leu1534Val)
c.3004C>G (p.Leu1002Val)
n.5140C>G
6g.52024946G=CA1628646911PKHD1c.4864C= (p.Leu1622=)
c.4222C= (p.Leu1408=)
c.4153C= (p.Leu1385=)
c.4789C= (p.Leu1597=)
c.4600C= (p.Leu1534=)
c.3004C= (p.Leu1002=)
n.5140C=
6g.52024946G>TCA364430958PKHD1c.4864C>A (p.Leu1622Ile)
c.4222C>A (p.Leu1408Ile)
c.4153C>A (p.Leu1385Ile)
c.4789C>A (p.Leu1597Ile)
c.4600C>A (p.Leu1534Ile)
c.3004C>A (p.Leu1002Ile)
n.5140C>A
6g.52024947delCA2679084934PKHD1c.4863del (p.Glu1621AspfsTer18)
c.4221del (p.Glu1407AspfsTer18)
c.4152del (p.Glu1384AspfsTer18)
c.4788del (p.Glu1596AspfsTer18)
c.4599del (p.Glu1533AspfsTer18)
c.3003del (p.Glu1001AspfsTer18)
n.5139del
 gnomAD v4
6g.52024947C>ACA364430961PKHD1c.4863G>T (p.Glu1621Asp)
c.4221G>T (p.Glu1407Asp)
c.4152G>T (p.Glu1384Asp)
c.4788G>T (p.Glu1596Asp)
c.4599G>T (p.Glu1533Asp)
c.3003G>T (p.Glu1001Asp)
n.5139G>T
6g.52024947C>GCA364430963PKHD1c.4863G>C (p.Glu1621Asp)
c.4221G>C (p.Glu1407Asp)
c.4152G>C (p.Glu1384Asp)
c.4788G>C (p.Glu1596Asp)
c.4599G>C (p.Glu1533Asp)
c.3003G>C (p.Glu1001Asp)
n.5139G>C
6g.52024947C>TCA450613974PKHD1c.4863G>A (p.Glu1621=)
c.4221G>A (p.Glu1407=)
c.4152G>A (p.Glu1384=)
c.4788G>A (p.Glu1596=)
c.4599G>A (p.Glu1533=)
c.3003G>A (p.Glu1001=)
n.5139G>A
6g.52024948T>ACA364430964PKHD1c.4862A>T (p.Glu1621Val)
c.4220A>T (p.Glu1407Val)
c.4151A>T (p.Glu1384Val)
c.4787A>T (p.Glu1596Val)
c.4598A>T (p.Glu1533Val)
c.3002A>T (p.Glu1001Val)
n.5138A>T
6g.52024948T>CCA364430967PKHD1c.4862A>G (p.Glu1621Gly)
c.4220A>G (p.Glu1407Gly)
c.4151A>G (p.Glu1384Gly)
c.4787A>G (p.Glu1596Gly)
c.4598A>G (p.Glu1533Gly)
c.3002A>G (p.Glu1001Gly)
n.5138A>G
 gnomAD v4
6g.52024948T>GCA364430969PKHD1c.4862A>C (p.Glu1621Ala)
c.4220A>C (p.Glu1407Ala)
c.4151A>C (p.Glu1384Ala)
c.4787A>C (p.Glu1596Ala)
c.4598A>C (p.Glu1533Ala)
c.3002A>C (p.Glu1001Ala)
n.5138A>C
6g.52024949C>ACA364430971PKHD1c.4861G>T (p.Glu1621Ter)
c.4219G>T (p.Glu1407Ter)
c.4150G>T (p.Glu1384Ter)
c.4786G>T (p.Glu1596Ter)
c.4597G>T (p.Glu1533Ter)
c.3001G>T (p.Glu1001Ter)
n.5137G>T
6g.52024949C>GCA364430976PKHD1c.4861G>C (p.Glu1621Gln)
c.4219G>C (p.Glu1407Gln)
c.4150G>C (p.Glu1384Gln)
c.4786G>C (p.Glu1596Gln)
c.4597G>C (p.Glu1533Gln)
c.3001G>C (p.Glu1001Gln)
n.5137G>C
6g.52024949C>TCA364430973PKHD1c.4861G>A (p.Glu1621Lys)
c.4219G>A (p.Glu1407Lys)
c.4150G>A (p.Glu1384Lys)
c.4786G>A (p.Glu1596Lys)
c.4597G>A (p.Glu1533Lys)
c.3001G>A (p.Glu1001Lys)
n.5137G>A
6g.52024950A>CCA450613980PKHD1c.4860T>G (p.Ala1620=)
c.4218T>G (p.Ala1406=)
c.4149T>G (p.Ala1383=)
c.4785T>G (p.Ala1595=)
c.4596T>G (p.Ala1532=)
c.3000T>G (p.Ala1000=)
n.5136T>G
6g.52024950A>GCA450613981PKHD1c.4860T>C (p.Ala1620=)
c.4218T>C (p.Ala1406=)
c.4149T>C (p.Ala1383=)
c.4785T>C (p.Ala1595=)
c.4596T>C (p.Ala1532=)
c.3000T>C (p.Ala1000=)
n.5136T>C
6g.52024950A>TCA450613982PKHD1c.4860T>A (p.Ala1620=)
c.4218T>A (p.Ala1406=)
c.4149T>A (p.Ala1383=)
c.4785T>A (p.Ala1595=)
c.4596T>A (p.Ala1532=)
c.3000T>A (p.Ala1000=)
n.5136T>A
6g.52024951G>ACA364430979PKHD1c.4859C>T (p.Ala1620Val)
c.4217C>T (p.Ala1406Val)
c.4148C>T (p.Ala1383Val)
c.4784C>T (p.Ala1595Val)
c.4595C>T (p.Ala1532Val)
c.2999C>T (p.Ala1000Val)
n.5135C>T
6g.52024951G>CCA364430983PKHD1c.4859C>G (p.Ala1620Gly)
c.4217C>G (p.Ala1406Gly)
c.4148C>G (p.Ala1383Gly)
c.4784C>G (p.Ala1595Gly)
c.4595C>G (p.Ala1532Gly)
c.2999C>G (p.Ala1000Gly)
n.5135C>G
6g.52024951G>TCA364430982PKHD1c.4859C>A (p.Ala1620Asp)
c.4217C>A (p.Ala1406Asp)
c.4148C>A (p.Ala1383Asp)
c.4784C>A (p.Ala1595Asp)
c.4595C>A (p.Ala1532Asp)
c.2999C>A (p.Ala1000Asp)
n.5135C>A
 gnomAD v4 COSMIC COSMIC
6g.52024952C>ACA364430985PKHD1c.4858G>T (p.Ala1620Ser)
c.4216G>T (p.Ala1406Ser)
c.4147G>T (p.Ala1383Ser)
c.4783G>T (p.Ala1595Ser)
c.4594G>T (p.Ala1532Ser)
c.2998G>T (p.Ala1000Ser)
n.5134G>T
6g.52024952C>GCA364430986PKHD1c.4858G>C (p.Ala1620Pro)
c.4216G>C (p.Ala1406Pro)
c.4147G>C (p.Ala1383Pro)
c.4783G>C (p.Ala1595Pro)
c.4594G>C (p.Ala1532Pro)
c.2998G>C (p.Ala1000Pro)
n.5134G>C
6g.52024952C>TCA364430987PKHD1c.4858G>A (p.Ala1620Thr)
c.4216G>A (p.Ala1406Thr)
c.4147G>A (p.Ala1383Thr)
c.4783G>A (p.Ala1595Thr)
c.4594G>A (p.Ala1532Thr)
c.2998G>A (p.Ala1000Thr)
n.5134G>A
6g.52024953A>CCA450613985PKHD1c.4857T>G (p.Gly1619=)
c.4215T>G (p.Gly1405=)
c.4146T>G (p.Gly1382=)
c.4782T>G (p.Gly1594=)
c.4593T>G (p.Gly1531=)
c.2997T>G (p.Gly999=)
n.5133T>G
6g.52024953A>GCA450613987PKHD1c.4857T>C (p.Gly1619=)
c.4215T>C (p.Gly1405=)
c.4146T>C (p.Gly1382=)
c.4782T>C (p.Gly1594=)
c.4593T>C (p.Gly1531=)
c.2997T>C (p.Gly999=)
n.5133T>C
6g.52024953A>TCA450613989PKHD1c.4857T>A (p.Gly1619=)
c.4215T>A (p.Gly1405=)
c.4146T>A (p.Gly1382=)
c.4782T>A (p.Gly1594=)
c.4593T>A (p.Gly1531=)
c.2997T>A (p.Gly999=)
n.5133T>A
6g.52024954C>ACA364430990PKHD1c.4856G>T (p.Gly1619Val)
c.4214G>T (p.Gly1405Val)
c.4145G>T (p.Gly1382Val)
c.4781G>T (p.Gly1594Val)
c.4592G>T (p.Gly1531Val)
c.2996G>T (p.Gly999Val)
n.5132G>T
6g.52024954C>GCA364430993PKHD1c.4856G>C (p.Gly1619Ala)
c.4214G>C (p.Gly1405Ala)
c.4145G>C (p.Gly1382Ala)
c.4781G>C (p.Gly1594Ala)
c.4592G>C (p.Gly1531Ala)
c.2996G>C (p.Gly999Ala)
n.5132G>C
6g.52024954C>TCA364430995PKHD1c.4856G>A (p.Gly1619Asp)
c.4214G>A (p.Gly1405Asp)
c.4145G>A (p.Gly1382Asp)
c.4781G>A (p.Gly1594Asp)
c.4592G>A (p.Gly1531Asp)
c.2996G>A (p.Gly999Asp)
n.5132G>A
6g.52024955C>ACA364430998PKHD1c.4855G>T (p.Gly1619Cys)
c.4213G>T (p.Gly1405Cys)
c.4144G>T (p.Gly1382Cys)
c.4780G>T (p.Gly1594Cys)
c.4591G>T (p.Gly1531Cys)
c.2995G>T (p.Gly999Cys)
n.5131G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52024955C=CA1628646918PKHD1c.4855G= (p.Gly1619=)
c.4213G= (p.Gly1405=)
c.4144G= (p.Gly1382=)
c.4780G= (p.Gly1594=)
c.4591G= (p.Gly1531=)
c.2995G= (p.Gly999=)
n.5131G=
6g.52024955C>GCA364431001PKHD1c.4855G>C (p.Gly1619Arg)
c.4213G>C (p.Gly1405Arg)
c.4144G>C (p.Gly1382Arg)
c.4780G>C (p.Gly1594Arg)
c.4591G>C (p.Gly1531Arg)
c.2995G>C (p.Gly999Arg)
n.5131G>C
6g.52024955C>TCA3852653PKHD1c.4855G>A (p.Gly1619Ser)
c.4213G>A (p.Gly1405Ser)
c.4144G>A (p.Gly1382Ser)
c.4780G>A (p.Gly1594Ser)
c.4591G>A (p.Gly1531Ser)
c.2995G>A (p.Gly999Ser)
n.5131G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024956G>ACA3852654PKHD1c.4854C>T (p.Ile1618=)
c.4212C>T (p.Ile1404=)
c.4143C>T (p.Ile1381=)
c.4779C>T (p.Ile1593=)
c.4590C>T (p.Ile1530=)
c.2994C>T (p.Ile998=)
n.5130C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024956G>CCA364431005PKHD1c.4854C>G (p.Ile1618Met)
c.4212C>G (p.Ile1404Met)
c.4143C>G (p.Ile1381Met)
c.4779C>G (p.Ile1593Met)
c.4590C>G (p.Ile1530Met)
c.2994C>G (p.Ile998Met)
n.5130C>G
6g.52024956G=CA1628646924PKHD1c.4854C= (p.Ile1618=)
c.4212C= (p.Ile1404=)
c.4143C= (p.Ile1381=)
c.4779C= (p.Ile1593=)
c.4590C= (p.Ile1530=)
c.2994C= (p.Ile998=)
n.5130C=
6g.52024956G>TCA450613994PKHD1c.4854C>A (p.Ile1618=)
c.4212C>A (p.Ile1404=)
c.4143C>A (p.Ile1381=)
c.4779C>A (p.Ile1593=)
c.4590C>A (p.Ile1530=)
c.2994C>A (p.Ile998=)
n.5130C>A
 ClinVar
6g.52024957A>CCA364431014PKHD1c.4853T>G (p.Ile1618Ser)
c.4211T>G (p.Ile1404Ser)
c.4142T>G (p.Ile1381Ser)
c.4778T>G (p.Ile1593Ser)
c.4589T>G (p.Ile1530Ser)
c.2993T>G (p.Ile998Ser)
n.5129T>G
6g.52024957A>GCA364431008PKHD1c.4853T>C (p.Ile1618Thr)
c.4211T>C (p.Ile1404Thr)
c.4142T>C (p.Ile1381Thr)
c.4778T>C (p.Ile1593Thr)
c.4589T>C (p.Ile1530Thr)
c.2993T>C (p.Ile998Thr)
n.5129T>C
6g.52024957A>TCA364431011PKHD1c.4853T>A (p.Ile1618Asn)
c.4211T>A (p.Ile1404Asn)
c.4142T>A (p.Ile1381Asn)
c.4778T>A (p.Ile1593Asn)
c.4589T>A (p.Ile1530Asn)
c.2993T>A (p.Ile998Asn)
n.5129T>A
6g.52024958T>ACA3852656PKHD1c.4852A>T (p.Ile1618Phe)
c.4210A>T (p.Ile1404Phe)
c.4141A>T (p.Ile1381Phe)
c.4777A>T (p.Ile1593Phe)
c.4588A>T (p.Ile1530Phe)
c.2992A>T (p.Ile998Phe)
n.5128A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024958T>CCA3852655PKHD1c.4852A>G (p.Ile1618Val)
c.4210A>G (p.Ile1404Val)
c.4141A>G (p.Ile1381Val)
c.4777A>G (p.Ile1593Val)
c.4588A>G (p.Ile1530Val)
c.2992A>G (p.Ile998Val)
n.5128A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024958T>GCA364431019PKHD1c.4852A>C (p.Ile1618Leu)
c.4210A>C (p.Ile1404Leu)
c.4141A>C (p.Ile1381Leu)
c.4777A>C (p.Ile1593Leu)
c.4588A>C (p.Ile1530Leu)
c.2992A>C (p.Ile998Leu)
n.5128A>C
6g.52024958T=CA1628646934PKHD1c.4852A= (p.Ile1618=)
c.4210A= (p.Ile1404=)
c.4141A= (p.Ile1381=)
c.4777A= (p.Ile1593=)
c.4588A= (p.Ile1530=)
c.2992A= (p.Ile998=)
n.5128A=
6g.52024959G>ACA450614001PKHD1c.4851C>T (p.Asn1617=)
c.4209C>T (p.Asn1403=)
c.4140C>T (p.Asn1380=)
c.4776C>T (p.Asn1592=)
c.4587C>T (p.Asn1529=)
c.2991C>T (p.Asn997=)
n.5127C>T
 dbSNP gnomAD v2 gnomAD v4
6g.52024959G>CCA364431022PKHD1c.4851C>G (p.Asn1617Lys)
c.4209C>G (p.Asn1403Lys)
c.4140C>G (p.Asn1380Lys)
c.4776C>G (p.Asn1592Lys)
c.4587C>G (p.Asn1529Lys)
c.2991C>G (p.Asn997Lys)
n.5127C>G
6g.52024959G=CA1628646940PKHD1c.4851C= (p.Asn1617=)
c.4209C= (p.Asn1403=)
c.4140C= (p.Asn1380=)
c.4776C= (p.Asn1592=)
c.4587C= (p.Asn1529=)
c.2991C= (p.Asn997=)
n.5127C=
6g.52024959G>TCA364431025PKHD1c.4851C>A (p.Asn1617Lys)
c.4209C>A (p.Asn1403Lys)
c.4140C>A (p.Asn1380Lys)
c.4776C>A (p.Asn1592Lys)
c.4587C>A (p.Asn1529Lys)
c.2991C>A (p.Asn997Lys)
n.5127C>A
6g.52024960T>ACA3852657PKHD1c.4850A>T (p.Asn1617Ile)
c.4208A>T (p.Asn1403Ile)
c.4139A>T (p.Asn1380Ile)
c.4775A>T (p.Asn1592Ile)
c.4586A>T (p.Asn1529Ile)
c.2990A>T (p.Asn997Ile)
n.5126A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52024960T>CCA364431029PKHD1c.4850A>G (p.Asn1617Ser)
c.4208A>G (p.Asn1403Ser)
c.4139A>G (p.Asn1380Ser)
c.4775A>G (p.Asn1592Ser)
c.4586A>G (p.Asn1529Ser)
c.2990A>G (p.Asn997Ser)
n.5126A>G
 gnomAD v4
6g.52024960T>GCA364431035PKHD1c.4850A>C (p.Asn1617Thr)
c.4208A>C (p.Asn1403Thr)
c.4139A>C (p.Asn1380Thr)
c.4775A>C (p.Asn1592Thr)
c.4586A>C (p.Asn1529Thr)
c.2990A>C (p.Asn997Thr)
n.5126A>C
6g.52024960T=CA1628646942PKHD1c.4850A= (p.Asn1617=)
c.4208A= (p.Asn1403=)
c.4139A= (p.Asn1380=)
c.4775A= (p.Asn1592=)
c.4586A= (p.Asn1529=)
c.2990A= (p.Asn997=)
n.5126A=
6g.52024961T>ACA364431036PKHD1c.4849A>T (p.Asn1617Tyr)
c.4207A>T (p.Asn1403Tyr)
c.4138A>T (p.Asn1380Tyr)
c.4774A>T (p.Asn1592Tyr)
c.4585A>T (p.Asn1529Tyr)
c.2989A>T (p.Asn997Tyr)
n.5125A>T
6g.52024961T>CCA138946383PKHD1c.4849A>G (p.Asn1617Asp)
c.4207A>G (p.Asn1403Asp)
c.4138A>G (p.Asn1380Asp)
c.4774A>G (p.Asn1592Asp)
c.4585A>G (p.Asn1529Asp)
c.2989A>G (p.Asn997Asp)
n.5125A>G
 dbSNP
6g.52024961T>GCA364431039PKHD1c.4849A>C (p.Asn1617His)
c.4207A>C (p.Asn1403His)
c.4138A>C (p.Asn1380His)
c.4774A>C (p.Asn1592His)
c.4585A>C (p.Asn1529His)
c.2989A>C (p.Asn997His)
n.5125A>C
6g.52024961T=CA1628646946PKHD1c.4849A= (p.Asn1617=)
c.4207A= (p.Asn1403=)
c.4138A= (p.Asn1380=)
c.4774A= (p.Asn1592=)
c.4585A= (p.Asn1529=)
c.2989A= (p.Asn997=)
n.5125A=
6g.52024962C>ACA450614007PKHD1c.4848G>T (p.Val1616=)
c.4206G>T (p.Val1402=)
c.4137G>T (p.Val1379=)
c.4773G>T (p.Val1591=)
c.4584G>T (p.Val1528=)
c.2988G>T (p.Val996=)
n.5124G>T
6g.52024962C>GCA450614008PKHD1c.4848G>C (p.Val1616=)
c.4206G>C (p.Val1402=)
c.4137G>C (p.Val1379=)
c.4773G>C (p.Val1591=)
c.4584G>C (p.Val1528=)
c.2988G>C (p.Val996=)
n.5124G>C
6g.52024962C>TCA450614009PKHD1c.4848G>A (p.Val1616=)
c.4206G>A (p.Val1402=)
c.4137G>A (p.Val1379=)
c.4773G>A (p.Val1591=)
c.4584G>A (p.Val1528=)
c.2988G>A (p.Val996=)
n.5124G>A
 gnomAD v4
6g.52024963A>CCA364431046PKHD1c.4847T>G (p.Val1616Gly)
c.4205T>G (p.Val1402Gly)
c.4136T>G (p.Val1379Gly)
c.4772T>G (p.Val1591Gly)
c.4583T>G (p.Val1528Gly)
c.2987T>G (p.Val996Gly)
n.5123T>G
6g.52024963A>GCA364431049PKHD1c.4847T>C (p.Val1616Ala)
c.4205T>C (p.Val1402Ala)
c.4136T>C (p.Val1379Ala)
c.4772T>C (p.Val1591Ala)
c.4583T>C (p.Val1528Ala)
c.2987T>C (p.Val996Ala)
n.5123T>C
6g.52024963A>TCA364431043PKHD1c.4847T>A (p.Val1616Glu)
c.4205T>A (p.Val1402Glu)
c.4136T>A (p.Val1379Glu)
c.4772T>A (p.Val1591Glu)
c.4583T>A (p.Val1528Glu)
c.2987T>A (p.Val996Glu)
n.5123T>A
6g.52024964C>ACA364431050PKHD1c.4846G>T (p.Val1616Leu)
c.4204G>T (p.Val1402Leu)
c.4135G>T (p.Val1379Leu)
c.4771G>T (p.Val1591Leu)
c.4582G>T (p.Val1528Leu)
c.2986G>T (p.Val996Leu)
n.5122G>T
6g.52024964C>GCA364431058PKHD1c.4846G>C (p.Val1616Leu)
c.4204G>C (p.Val1402Leu)
c.4135G>C (p.Val1379Leu)
c.4771G>C (p.Val1591Leu)
c.4582G>C (p.Val1528Leu)
c.2986G>C (p.Val996Leu)
n.5122G>C
6g.52024964C>TCA364431061PKHD1c.4846G>A (p.Val1616Met)
c.4204G>A (p.Val1402Met)
c.4135G>A (p.Val1379Met)
c.4771G>A (p.Val1591Met)
c.4582G>A (p.Val1528Met)
c.2986G>A (p.Val996Met)
n.5122G>A
6g.52024965C>ACA450614015PKHD1c.4845G>T (p.Thr1615=)
c.4203G>T (p.Thr1401=)
c.4134G>T (p.Thr1378=)
c.4770G>T (p.Thr1590=)
c.4581G>T (p.Thr1527=)
c.2985G>T (p.Thr995=)
n.5121G>T
 gnomAD v4
6g.52024965C=CA1628646953PKHD1c.4845G= (p.Thr1615=)
c.4203G= (p.Thr1401=)
c.4134G= (p.Thr1378=)
c.4770G= (p.Thr1590=)
c.4581G= (p.Thr1527=)
c.2985G= (p.Thr995=)
n.5121G=
6g.52024965C>GCA450614016PKHD1c.4845G>C (p.Thr1615=)
c.4203G>C (p.Thr1401=)
c.4134G>C (p.Thr1378=)
c.4770G>C (p.Thr1590=)
c.4581G>C (p.Thr1527=)
c.2985G>C (p.Thr995=)
n.5121G>C
6g.52024965C>TCA3852658PKHD1c.4845G>A (p.Thr1615=)
c.4203G>A (p.Thr1401=)
c.4134G>A (p.Thr1378=)
c.4770G>A (p.Thr1590=)
c.4581G>A (p.Thr1527=)
c.2985G>A (p.Thr995=)
n.5121G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024966G>ACA3852659PKHD1c.4844C>T (p.Thr1615Met)
c.4202C>T (p.Thr1401Met)
c.4133C>T (p.Thr1378Met)
c.4769C>T (p.Thr1590Met)
c.4580C>T (p.Thr1527Met)
c.2984C>T (p.Thr995Met)
n.5120C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024966G>CCA364431066PKHD1c.4844C>G (p.Thr1615Arg)
c.4202C>G (p.Thr1401Arg)
c.4133C>G (p.Thr1378Arg)
c.4769C>G (p.Thr1590Arg)
c.4580C>G (p.Thr1527Arg)
c.2984C>G (p.Thr995Arg)
n.5120C>G
6g.52024966G=CA1628646961PKHD1c.4844C= (p.Thr1615=)
c.4202C= (p.Thr1401=)
c.4133C= (p.Thr1378=)
c.4769C= (p.Thr1590=)
c.4580C= (p.Thr1527=)
c.2984C= (p.Thr995=)
n.5120C=
6g.52024966G>TCA3852660PKHD1c.4844C>A (p.Thr1615Lys)
c.4202C>A (p.Thr1401Lys)
c.4133C>A (p.Thr1378Lys)
c.4769C>A (p.Thr1590Lys)
c.4580C>A (p.Thr1527Lys)
c.2984C>A (p.Thr995Lys)
n.5120C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024967T>ACA364431072PKHD1c.4843A>T (p.Thr1615Ser)
c.4201A>T (p.Thr1401Ser)
c.4132A>T (p.Thr1378Ser)
c.4768A>T (p.Thr1590Ser)
c.4579A>T (p.Thr1527Ser)
c.2983A>T (p.Thr995Ser)
n.5119A>T
6g.52024967T>CCA364431073PKHD1c.4843A>G (p.Thr1615Ala)
c.4201A>G (p.Thr1401Ala)
c.4132A>G (p.Thr1378Ala)
c.4768A>G (p.Thr1590Ala)
c.4579A>G (p.Thr1527Ala)
c.2983A>G (p.Thr995Ala)
n.5119A>G
 gnomAD v4
6g.52024967T>GCA364431074PKHD1c.4843A>C (p.Thr1615Pro)
c.4201A>C (p.Thr1401Pro)
c.4132A>C (p.Thr1378Pro)
c.4768A>C (p.Thr1590Pro)
c.4579A>C (p.Thr1527Pro)
c.2983A>C (p.Thr995Pro)
n.5119A>C
6g.52024968C>ACA450614020PKHD1c.4842G>T (p.Leu1614=)
c.4200G>T (p.Leu1400=)
c.4131G>T (p.Leu1377=)
c.4767G>T (p.Leu1589=)
c.4578G>T (p.Leu1526=)
c.2982G>T (p.Leu994=)
n.5118G>T
6g.52024968C>GCA450614022PKHD1c.4842G>C (p.Leu1614=)
c.4200G>C (p.Leu1400=)
c.4131G>C (p.Leu1377=)
c.4767G>C (p.Leu1589=)
c.4578G>C (p.Leu1526=)
c.2982G>C (p.Leu994=)
n.5118G>C
6g.52024968C>TCA450614021PKHD1c.4842G>A (p.Leu1614=)
c.4200G>A (p.Leu1400=)
c.4131G>A (p.Leu1377=)
c.4767G>A (p.Leu1589=)
c.4578G>A (p.Leu1526=)
c.2982G>A (p.Leu994=)
n.5118G>A
6g.52024969A>CCA364431075PKHD1c.4841T>G (p.Leu1614Arg)
c.4199T>G (p.Leu1400Arg)
c.4130T>G (p.Leu1377Arg)
c.4766T>G (p.Leu1589Arg)
c.4577T>G (p.Leu1526Arg)
c.2981T>G (p.Leu994Arg)
n.5117T>G
6g.52024969A>GCA364431077PKHD1c.4841T>C (p.Leu1614Pro)
c.4199T>C (p.Leu1400Pro)
c.4130T>C (p.Leu1377Pro)
c.4766T>C (p.Leu1589Pro)
c.4577T>C (p.Leu1526Pro)
c.2981T>C (p.Leu994Pro)
n.5117T>C
6g.52024969A>TCA364431078PKHD1c.4841T>A (p.Leu1614Gln)
c.4199T>A (p.Leu1400Gln)
c.4130T>A (p.Leu1377Gln)
c.4766T>A (p.Leu1589Gln)
c.4577T>A (p.Leu1526Gln)
c.2981T>A (p.Leu994Gln)
n.5117T>A
6g.52024970G>ACA450614026PKHD1c.4840C>T (p.Leu1614=)
c.4198C>T (p.Leu1400=)
c.4129C>T (p.Leu1377=)
c.4765C>T (p.Leu1589=)
c.4576C>T (p.Leu1526=)
c.2980C>T (p.Leu994=)
n.5116C>T
 ClinVar dbSNP
6g.52024970G>CCA364431082PKHD1c.4840C>G (p.Leu1614Val)
c.4198C>G (p.Leu1400Val)
c.4129C>G (p.Leu1377Val)
c.4765C>G (p.Leu1589Val)
c.4576C>G (p.Leu1526Val)
c.2980C>G (p.Leu994Val)
n.5116C>G
6g.52024970G>TCA364431080PKHD1c.4840C>A (p.Leu1614Met)
c.4198C>A (p.Leu1400Met)
c.4129C>A (p.Leu1377Met)
c.4765C>A (p.Leu1589Met)
c.4576C>A (p.Leu1526Met)
c.2980C>A (p.Leu994Met)
n.5116C>A
6g.52024971G>ACA138946389PKHD1c.4839C>T (p.Cys1613=)
c.4197C>T (p.Cys1399=)
c.4128C>T (p.Cys1376=)
c.4764C>T (p.Cys1588=)
c.4575C>T (p.Cys1525=)
c.2979C>T (p.Cys993=)
n.5115C>T
 ClinVar dbSNP gnomAD v4
6g.52024971G>CCA364431084PKHD1c.4839C>G (p.Cys1613Trp)
c.4197C>G (p.Cys1399Trp)
c.4128C>G (p.Cys1376Trp)
c.4764C>G (p.Cys1588Trp)
c.4575C>G (p.Cys1525Trp)
c.2979C>G (p.Cys993Trp)
n.5115C>G
6g.52024971G=CA1628646965PKHD1c.4839C= (p.Cys1613=)
c.4197C= (p.Cys1399=)
c.4128C= (p.Cys1376=)
c.4764C= (p.Cys1588=)
c.4575C= (p.Cys1525=)
c.2979C= (p.Cys993=)
n.5115C=
6g.52024971G>TCA364431087PKHD1c.4839C>A (p.Cys1613Ter)
c.4197C>A (p.Cys1399Ter)
c.4128C>A (p.Cys1376Ter)
c.4764C>A (p.Cys1588Ter)
c.4575C>A (p.Cys1525Ter)
c.2979C>A (p.Cys993Ter)
n.5115C>A
6g.52024972C>ACA364431089PKHD1c.4838G>T (p.Cys1613Phe)
c.4196G>T (p.Cys1399Phe)
c.4127G>T (p.Cys1376Phe)
c.4763G>T (p.Cys1588Phe)
c.4574G>T (p.Cys1525Phe)
c.2978G>T (p.Cys993Phe)
n.5114G>T
 ClinVar gnomAD v4
6g.52024972C=CA1628646968PKHD1c.4838G= (p.Cys1613=)
c.4196G= (p.Cys1399=)
c.4127G= (p.Cys1376=)
c.4763G= (p.Cys1588=)
c.4574G= (p.Cys1525=)
c.2978G= (p.Cys993=)
n.5114G=
6g.52024972C>GCA364431092PKHD1c.4838G>C (p.Cys1613Ser)
c.4196G>C (p.Cys1399Ser)
c.4127G>C (p.Cys1376Ser)
c.4763G>C (p.Cys1588Ser)
c.4574G>C (p.Cys1525Ser)
c.2978G>C (p.Cys993Ser)
n.5114G>C
6g.52024972C>TCA3852661PKHD1c.4838G>A (p.Cys1613Tyr)
c.4196G>A (p.Cys1399Tyr)
c.4127G>A (p.Cys1376Tyr)
c.4763G>A (p.Cys1588Tyr)
c.4574G>A (p.Cys1525Tyr)
c.2978G>A (p.Cys993Tyr)
n.5114G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024973A>CCA364431103PKHD1c.4837T>G (p.Cys1613Gly)
c.4195T>G (p.Cys1399Gly)
c.4126T>G (p.Cys1376Gly)
c.4762T>G (p.Cys1588Gly)
c.4573T>G (p.Cys1525Gly)
c.2977T>G (p.Cys993Gly)
n.5113T>G
6g.52024973A>GCA364431112PKHD1c.4837T>C (p.Cys1613Arg)
c.4195T>C (p.Cys1399Arg)
c.4126T>C (p.Cys1376Arg)
c.4762T>C (p.Cys1588Arg)
c.4573T>C (p.Cys1525Arg)
c.2977T>C (p.Cys993Arg)
n.5113T>C
6g.52024973A>TCA364431122PKHD1c.4837T>A (p.Cys1613Ser)
c.4195T>A (p.Cys1399Ser)
c.4126T>A (p.Cys1376Ser)
c.4762T>A (p.Cys1588Ser)
c.4573T>A (p.Cys1525Ser)
c.2977T>A (p.Cys993Ser)
n.5113T>A
6g.52024974G>ACA450614033PKHD1c.4836C>T (p.Thr1612=)
c.4194C>T (p.Thr1398=)
c.4125C>T (p.Thr1375=)
c.4761C>T (p.Thr1587=)
c.4572C>T (p.Thr1524=)
c.2976C>T (p.Thr992=)
n.5112C>T
6g.52024974G>CCA450614034PKHD1c.4836C>G (p.Thr1612=)
c.4194C>G (p.Thr1398=)
c.4125C>G (p.Thr1375=)
c.4761C>G (p.Thr1587=)
c.4572C>G (p.Thr1524=)
c.2976C>G (p.Thr992=)
n.5112C>G
6g.52024974G=CA1628646973PKHD1c.4836C= (p.Thr1612=)
c.4194C= (p.Thr1398=)
c.4125C= (p.Thr1375=)
c.4761C= (p.Thr1587=)
c.4572C= (p.Thr1524=)
c.2976C= (p.Thr992=)
n.5112C=
6g.52024974G>TCA450614035PKHD1c.4836C>A (p.Thr1612=)
c.4194C>A (p.Thr1398=)
c.4125C>A (p.Thr1375=)
c.4761C>A (p.Thr1587=)
c.4572C>A (p.Thr1524=)
c.2976C>A (p.Thr992=)
n.5112C>A
 dbSNP gnomAD v2 gnomAD v4
6g.52024975delCA2499218363PKHD1c.4836del (p.Cys1613AlafsTer2)
c.4194del (p.Cys1399AlafsTer2)
c.4125del (p.Cys1376AlafsTer2)
c.4761del (p.Cys1588AlafsTer2)
c.4572del (p.Cys1525AlafsTer2)
c.2976del (p.Cys993AlafsTer2)
n.5112del
 ClinVar dbSNP
6g.52024975G>ACA364431128PKHD1c.4835C>T (p.Thr1612Ile)
c.4193C>T (p.Thr1398Ile)
c.4124C>T (p.Thr1375Ile)
c.4760C>T (p.Thr1587Ile)
c.4571C>T (p.Thr1524Ile)
c.2975C>T (p.Thr992Ile)
n.5111C>T
6g.52024975G>CCA364431132PKHD1c.4835C>G (p.Thr1612Ser)
c.4193C>G (p.Thr1398Ser)
c.4124C>G (p.Thr1375Ser)
c.4760C>G (p.Thr1587Ser)
c.4571C>G (p.Thr1524Ser)
c.2975C>G (p.Thr992Ser)
n.5111C>G
6g.52024975G=CA1628646975PKHD1c.4835C= (p.Thr1612=)
c.4193C= (p.Thr1398=)
c.4124C= (p.Thr1375=)
c.4760C= (p.Thr1587=)
c.4571C= (p.Thr1524=)
c.2975C= (p.Thr992=)
n.5111C=
6g.52024975G>TCA3852662PKHD1c.4835C>A (p.Thr1612Asn)
c.4193C>A (p.Thr1398Asn)
c.4124C>A (p.Thr1375Asn)
c.4760C>A (p.Thr1587Asn)
c.4571C>A (p.Thr1524Asn)
c.2975C>A (p.Thr992Asn)
n.5111C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024976T>ACA364431136PKHD1c.4834A>T (p.Thr1612Ser)
c.4192A>T (p.Thr1398Ser)
c.4123A>T (p.Thr1375Ser)
c.4759A>T (p.Thr1587Ser)
c.4570A>T (p.Thr1524Ser)
c.2974A>T (p.Thr992Ser)
n.5110A>T
6g.52024976T>CCA364431139PKHD1c.4834A>G (p.Thr1612Ala)
c.4192A>G (p.Thr1398Ala)
c.4123A>G (p.Thr1375Ala)
c.4759A>G (p.Thr1587Ala)
c.4570A>G (p.Thr1524Ala)
c.2974A>G (p.Thr992Ala)
n.5110A>G
 dbSNP
6g.52024976T>GCA364431142PKHD1c.4834A>C (p.Thr1612Pro)
c.4192A>C (p.Thr1398Pro)
c.4123A>C (p.Thr1375Pro)
c.4759A>C (p.Thr1587Pro)
c.4570A>C (p.Thr1524Pro)
c.2974A>C (p.Thr992Pro)
n.5110A>C
6g.52024976T=CA1628646980PKHD1c.4834A= (p.Thr1612=)
c.4192A= (p.Thr1398=)
c.4123A= (p.Thr1375=)
c.4759A= (p.Thr1587=)
c.4570A= (p.Thr1524=)
c.2974A= (p.Thr992=)
n.5110A=
6g.52024977C>ACA364431143PKHD1c.4833G>T (p.Gln1611His)
c.4191G>T (p.Gln1397His)
c.4122G>T (p.Gln1374His)
c.4758G>T (p.Gln1586His)
c.4569G>T (p.Gln1523His)
c.2973G>T (p.Gln991His)
n.5109G>T
 COSMIC COSMIC
6g.52024977C>GCA364431144PKHD1c.4833G>C (p.Gln1611His)
c.4191G>C (p.Gln1397His)
c.4122G>C (p.Gln1374His)
c.4758G>C (p.Gln1586His)
c.4569G>C (p.Gln1523His)
c.2973G>C (p.Gln991His)
n.5109G>C
6g.52024977C>TCA450614039PKHD1c.4833G>A (p.Gln1611=)
c.4191G>A (p.Gln1397=)
c.4122G>A (p.Gln1374=)
c.4758G>A (p.Gln1586=)
c.4569G>A (p.Gln1523=)
c.2973G>A (p.Gln991=)
n.5109G>A
6g.52024978T>ACA364431146PKHD1c.4832A>T (p.Gln1611Leu)
c.4190A>T (p.Gln1397Leu)
c.4121A>T (p.Gln1374Leu)
c.4757A>T (p.Gln1586Leu)
c.4568A>T (p.Gln1523Leu)
c.2972A>T (p.Gln991Leu)
n.5108A>T
6g.52024978T>CCA364431163PKHD1c.4832A>G (p.Gln1611Arg)
c.4190A>G (p.Gln1397Arg)
c.4121A>G (p.Gln1374Arg)
c.4757A>G (p.Gln1586Arg)
c.4568A>G (p.Gln1523Arg)
c.2972A>G (p.Gln991Arg)
n.5108A>G
 dbSNP gnomAD v3 gnomAD v4
6g.52024978T>GCA364431157PKHD1c.4832A>C (p.Gln1611Pro)
c.4190A>C (p.Gln1397Pro)
c.4121A>C (p.Gln1374Pro)
c.4757A>C (p.Gln1586Pro)
c.4568A>C (p.Gln1523Pro)
c.2972A>C (p.Gln991Pro)
n.5108A>C
 dbSNP gnomAD v2 gnomAD v4
6g.52024978T=CA1628646983PKHD1c.4832A= (p.Gln1611=)
c.4190A= (p.Gln1397=)
c.4121A= (p.Gln1374=)
c.4757A= (p.Gln1586=)
c.4568A= (p.Gln1523=)
c.2972A= (p.Gln991=)
n.5108A=
6g.52024979G>ACA364431166PKHD1c.4831C>T (p.Gln1611Ter)
c.4189C>T (p.Gln1397Ter)
c.4120C>T (p.Gln1374Ter)
c.4756C>T (p.Gln1586Ter)
c.4567C>T (p.Gln1523Ter)
c.2971C>T (p.Gln991Ter)
n.5107C>T
6g.52024979G>CCA364431171PKHD1c.4831C>G (p.Gln1611Glu)
c.4189C>G (p.Gln1397Glu)
c.4120C>G (p.Gln1374Glu)
c.4756C>G (p.Gln1586Glu)
c.4567C>G (p.Gln1523Glu)
c.2971C>G (p.Gln991Glu)
n.5107C>G
6g.52024979G=CA1628646987PKHD1c.4831C= (p.Gln1611=)
c.4189C= (p.Gln1397=)
c.4120C= (p.Gln1374=)
c.4756C= (p.Gln1586=)
c.4567C= (p.Gln1523=)
c.2971C= (p.Gln991=)
n.5107C=
6g.52024979G>TCA3852663PKHD1c.4831C>A (p.Gln1611Lys)
c.4189C>A (p.Gln1397Lys)
c.4120C>A (p.Gln1374Lys)
c.4756C>A (p.Gln1586Lys)
c.4567C>A (p.Gln1523Lys)
c.2971C>A (p.Gln991Lys)
n.5107C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.52024980C>ACA364431175PKHD1c.4830G>T (p.Gln1610His)
c.4188G>T (p.Gln1396His)
c.4119G>T (p.Gln1373His)
c.4755G>T (p.Gln1585His)
c.4566G>T (p.Gln1522His)
c.2970G>T (p.Gln990His)
n.5106G>T
 dbSNP gnomAD v2 gnomAD v4
6g.52024980C=CA1628646990PKHD1c.4830G= (p.Gln1610=)
c.4188G= (p.Gln1396=)
c.4119G= (p.Gln1373=)
c.4755G= (p.Gln1585=)
c.4566G= (p.Gln1522=)
c.2970G= (p.Gln990=)
n.5106G=
6g.52024980C>GCA364431177PKHD1c.4830G>C (p.Gln1610His)
c.4188G>C (p.Gln1396His)
c.4119G>C (p.Gln1373His)
c.4755G>C (p.Gln1585His)
c.4566G>C (p.Gln1522His)
c.2970G>C (p.Gln990His)
n.5106G>C
6g.52024980C>TCA450614043PKHD1c.4830G>A (p.Gln1610=)
c.4188G>A (p.Gln1396=)
c.4119G>A (p.Gln1373=)
c.4755G>A (p.Gln1585=)
c.4566G>A (p.Gln1522=)
c.2970G>A (p.Gln990=)
n.5106G>A
6g.52024981T>ACA364431179PKHD1c.4829A>T (p.Gln1610Leu)
c.4187A>T (p.Gln1396Leu)
c.4118A>T (p.Gln1373Leu)
c.4754A>T (p.Gln1585Leu)
c.4565A>T (p.Gln1522Leu)
c.2969A>T (p.Gln990Leu)
n.5105A>T
6g.52024981T>CCA364431181PKHD1c.4829A>G (p.Gln1610Arg)
c.4187A>G (p.Gln1396Arg)
c.4118A>G (p.Gln1373Arg)
c.4754A>G (p.Gln1585Arg)
c.4565A>G (p.Gln1522Arg)
c.2969A>G (p.Gln990Arg)
n.5105A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52024981T>GCA364431183PKHD1c.4829A>C (p.Gln1610Pro)
c.4187A>C (p.Gln1396Pro)
c.4118A>C (p.Gln1373Pro)
c.4754A>C (p.Gln1585Pro)
c.4565A>C (p.Gln1522Pro)
c.2969A>C (p.Gln990Pro)
n.5105A>C
6g.52024981T=CA1628646991PKHD1c.4829A= (p.Gln1610=)
c.4187A= (p.Gln1396=)
c.4118A= (p.Gln1373=)
c.4754A= (p.Gln1585=)
c.4565A= (p.Gln1522=)
c.2969A= (p.Gln990=)
n.5105A=
6g.52024982G>ACA138946405PKHD1c.4828C>T (p.Gln1610Ter)
c.4186C>T (p.Gln1396Ter)
c.4117C>T (p.Gln1373Ter)
c.4753C>T (p.Gln1585Ter)
c.4564C>T (p.Gln1522Ter)
c.2968C>T (p.Gln990Ter)
n.5104C>T
 dbSNP
6g.52024982G>CCA364431187PKHD1c.4828C>G (p.Gln1610Glu)
c.4186C>G (p.Gln1396Glu)
c.4117C>G (p.Gln1373Glu)
c.4753C>G (p.Gln1585Glu)
c.4564C>G (p.Gln1522Glu)
c.2968C>G (p.Gln990Glu)
n.5104C>G
6g.52024982G=CA1628646996PKHD1c.4828C= (p.Gln1610=)
c.4186C= (p.Gln1396=)
c.4117C= (p.Gln1373=)
c.4753C= (p.Gln1585=)
c.4564C= (p.Gln1522=)
c.2968C= (p.Gln990=)
n.5104C=
6g.52024982G>TCA3852664PKHD1c.4828C>A (p.Gln1610Lys)
c.4186C>A (p.Gln1396Lys)
c.4117C>A (p.Gln1373Lys)
c.4753C>A (p.Gln1585Lys)
c.4564C>A (p.Gln1522Lys)
c.2968C>A (p.Gln990Lys)
n.5104C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024983G>ACA450614046PKHD1c.4827C>T (p.Asp1609=)
c.4185C>T (p.Asp1395=)
c.4116C>T (p.Asp1372=)
c.4752C>T (p.Asp1584=)
c.4563C>T (p.Asp1521=)
c.2967C>T (p.Asp989=)
n.5103C>T
 ClinVar
6g.52024983G>CCA364431190PKHD1c.4827C>G (p.Asp1609Glu)
c.4185C>G (p.Asp1395Glu)
c.4116C>G (p.Asp1372Glu)
c.4752C>G (p.Asp1584Glu)
c.4563C>G (p.Asp1521Glu)
c.2967C>G (p.Asp989Glu)
n.5103C>G
6g.52024983G>TCA364431191PKHD1c.4827C>A (p.Asp1609Glu)
c.4185C>A (p.Asp1395Glu)
c.4116C>A (p.Asp1372Glu)
c.4752C>A (p.Asp1584Glu)
c.4563C>A (p.Asp1521Glu)
c.2967C>A (p.Asp989Glu)
n.5103C>A
6g.52024984T>ACA364431194PKHD1c.4826A>T (p.Asp1609Val)
c.4184A>T (p.Asp1395Val)
c.4115A>T (p.Asp1372Val)
c.4751A>T (p.Asp1584Val)
c.4562A>T (p.Asp1521Val)
c.2966A>T (p.Asp989Val)
n.5102A>T
6g.52024984T>CCA364431195PKHD1c.4826A>G (p.Asp1609Gly)
c.4184A>G (p.Asp1395Gly)
c.4115A>G (p.Asp1372Gly)
c.4751A>G (p.Asp1584Gly)
c.4562A>G (p.Asp1521Gly)
c.2966A>G (p.Asp989Gly)
n.5102A>G
6g.52024984T>GCA364431196PKHD1c.4826A>C (p.Asp1609Ala)
c.4184A>C (p.Asp1395Ala)
c.4115A>C (p.Asp1372Ala)
c.4751A>C (p.Asp1584Ala)
c.4562A>C (p.Asp1521Ala)
c.2966A>C (p.Asp989Ala)
n.5102A>C
 gnomAD v4

Number of alleles fetched