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

Number of alleles fetched