Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.52025156_52025166delinsCTGACAGGTAGCA1628647245PKHD1c.4644_4654delinsCTACCTGTCAG (p.His1548=)
c.4102-100_4102-90delinsCTACCTGTCAG (n.4102-100_4102-90delinsCTACCTGTCAG)
c.3933_3943delinsCTACCTGTCAG (p.His1311=)
c.4569_4579delinsCTACCTGTCAG (p.His1523=)
c.4380_4390delinsCTACCTGTCAG (p.His1460=)
c.2784_2794delinsCTACCTGTCAG (p.His928=)
n.4920_4930delinsCTACCTGTCAG
6g.52025159_52025168delCA567636241PKHD1c.4644_4653del (p.His1548GlnfsTer?)
c.4102-100_4102-91del (n.4102-100_4102-91del)
c.3933_3942del (p.His1311GlnfsTer?)
c.4569_4578del (p.His1523GlnfsTer?)
c.4380_4389del (p.His1460GlnfsTer?)
c.2784_2793del (p.His928GlnfsTer?)
n.4920_4929del
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.52025158G>ACA364432048PKHD1c.4652C>T (p.Ser1551Leu)
c.4102-92C>T (n.4102-92C>T)
c.3941C>T (p.Ser1314Leu)
c.4577C>T (p.Ser1526Leu)
c.4388C>T (p.Ser1463Leu)
c.2792C>T (p.Ser931Leu)
n.4928C>T
 gnomAD v4
6g.52025158G>CCA3852689PKHD1c.4652C>G (p.Ser1551Ter)
c.4102-92C>G (n.4102-92C>G)
c.3941C>G (p.Ser1314Ter)
c.4577C>G (p.Ser1526Ter)
c.4388C>G (p.Ser1463Ter)
c.2792C>G (p.Ser931Ter)
n.4928C>G
 dbSNP ExAC gnomAD v2
6g.52025158G=CA1628647250PKHD1c.4652C= (p.Ser1551=)
c.4102-92C= (n.4102-92C=)
c.3941C= (p.Ser1314=)
c.4577C= (p.Ser1526=)
c.4388C= (p.Ser1463=)
c.2792C= (p.Ser931=)
n.4928C=
6g.52025158G>TCA364432050PKHD1c.4652C>A (p.Ser1551Ter)
c.4102-92C>A (n.4102-92C>A)
c.3941C>A (p.Ser1314Ter)
c.4577C>A (p.Ser1526Ter)
c.4388C>A (p.Ser1463Ter)
c.2792C>A (p.Ser931Ter)
n.4928C>A
6g.52025159A>CCA364432052PKHD1c.4651T>G (p.Ser1551Ala)
c.4102-93T>G (n.4102-93T>G)
c.3940T>G (p.Ser1314Ala)
c.4576T>G (p.Ser1526Ala)
c.4387T>G (p.Ser1463Ala)
c.2791T>G (p.Ser931Ala)
n.4927T>G
6g.52025159A>GCA364432053PKHD1c.4651T>C (p.Ser1551Pro)
c.4102-93T>C (n.4102-93T>C)
c.3940T>C (p.Ser1314Pro)
c.4576T>C (p.Ser1526Pro)
c.4387T>C (p.Ser1463Pro)
c.2791T>C (p.Ser931Pro)
n.4927T>C
6g.52025159A>TCA364432055PKHD1c.4651T>A (p.Ser1551Thr)
c.4102-93T>A (n.4102-93T>A)
c.3940T>A (p.Ser1314Thr)
c.4576T>A (p.Ser1526Thr)
c.4387T>A (p.Ser1463Thr)
c.2791T>A (p.Ser931Thr)
n.4927T>A
6g.52025160C>ACA450614281PKHD1c.4650G>T (p.Leu1550=)
c.4102-94G>T (n.4102-94G>T)
c.3939G>T (p.Leu1313=)
c.4575G>T (p.Leu1525=)
c.4386G>T (p.Leu1462=)
c.2790G>T (p.Leu930=)
n.4926G>T
6g.52025160C>GCA450614282PKHD1c.4650G>C (p.Leu1550=)
c.4102-94G>C (n.4102-94G>C)
c.3939G>C (p.Leu1313=)
c.4575G>C (p.Leu1525=)
c.4386G>C (p.Leu1462=)
c.2790G>C (p.Leu930=)
n.4926G>C
6g.52025160C>TCA450614283PKHD1c.4650G>A (p.Leu1550=)
c.4102-94G>A (n.4102-94G>A)
c.3939G>A (p.Leu1313=)
c.4575G>A (p.Leu1525=)
c.4386G>A (p.Leu1462=)
c.2790G>A (p.Leu930=)
n.4926G>A
 ClinVar dbSNP
6g.52025161delCA2695198878PKHD1c.4649del (p.Leu1550ArgfsTer?)
c.4102-95del (n.4102-95del)
c.3938del (p.Leu1313ArgfsTer?)
c.4574del (p.Leu1525ArgfsTer?)
c.4385del (p.Leu1462ArgfsTer?)
c.2789del (p.Leu930ArgfsTer?)
n.4925del
 ClinVar
6g.52025161A>CCA364432057PKHD1c.4649T>G (p.Leu1550Arg)
c.4102-95T>G (n.4102-95T>G)
c.3938T>G (p.Leu1313Arg)
c.4574T>G (p.Leu1525Arg)
c.4385T>G (p.Leu1462Arg)
c.2789T>G (p.Leu930Arg)
n.4925T>G
6g.52025161A>GCA364432061PKHD1c.4649T>C (p.Leu1550Pro)
c.4102-95T>C (n.4102-95T>C)
c.3938T>C (p.Leu1313Pro)
c.4574T>C (p.Leu1525Pro)
c.4385T>C (p.Leu1462Pro)
c.2789T>C (p.Leu930Pro)
n.4925T>C
6g.52025161A>TCA364432059PKHD1c.4649T>A (p.Leu1550Gln)
c.4102-95T>A (n.4102-95T>A)
c.3938T>A (p.Leu1313Gln)
c.4574T>A (p.Leu1525Gln)
c.4385T>A (p.Leu1462Gln)
c.2789T>A (p.Leu930Gln)
n.4925T>A
6g.52025162G>ACA450614284PKHD1c.4648C>T (p.Leu1550=)
c.4102-96C>T (n.4102-96C>T)
c.3937C>T (p.Leu1313=)
c.4573C>T (p.Leu1525=)
c.4384C>T (p.Leu1462=)
c.2788C>T (p.Leu930=)
n.4924C>T
6g.52025162G>CCA364432062PKHD1c.4648C>G (p.Leu1550Val)
c.4102-96C>G (n.4102-96C>G)
c.3937C>G (p.Leu1313Val)
c.4573C>G (p.Leu1525Val)
c.4384C>G (p.Leu1462Val)
c.2788C>G (p.Leu930Val)
n.4924C>G
6g.52025162G=CA1628647251PKHD1c.4648C= (p.Leu1550=)
c.4102-96C= (n.4102-96C=)
c.3937C= (p.Leu1313=)
c.4573C= (p.Leu1525=)
c.4384C= (p.Leu1462=)
c.2788C= (p.Leu930=)
n.4924C=
6g.52025162G>TCA138946624PKHD1c.4648C>A (p.Leu1550Met)
c.4102-96C>A (n.4102-96C>A)
c.3937C>A (p.Leu1313Met)
c.4573C>A (p.Leu1525Met)
c.4384C>A (p.Leu1462Met)
c.2788C>A (p.Leu930Met)
n.4924C>A
 dbSNP
6g.52025163G>ACA3852690PKHD1c.4647C>T (p.Tyr1549=)
c.4102-97C>T (n.4102-97C>T)
c.3936C>T (p.Tyr1312=)
c.4572C>T (p.Tyr1524=)
c.4383C>T (p.Tyr1461=)
c.2787C>T (p.Tyr929=)
n.4923C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52025163G>CCA364432065PKHD1c.4647C>G (p.Tyr1549Ter)
c.4102-97C>G (n.4102-97C>G)
c.3936C>G (p.Tyr1312Ter)
c.4572C>G (p.Tyr1524Ter)
c.4383C>G (p.Tyr1461Ter)
c.2787C>G (p.Tyr929Ter)
n.4923C>G
6g.52025163G=CA1628647254PKHD1c.4647C= (p.Tyr1549=)
c.4102-97C= (n.4102-97C=)
c.3936C= (p.Tyr1312=)
c.4572C= (p.Tyr1524=)
c.4383C= (p.Tyr1461=)
c.2787C= (p.Tyr929=)
n.4923C=
6g.52025163G>TCA364432067PKHD1c.4647C>A (p.Tyr1549Ter)
c.4102-97C>A (n.4102-97C>A)
c.3936C>A (p.Tyr1312Ter)
c.4572C>A (p.Tyr1524Ter)
c.4383C>A (p.Tyr1461Ter)
c.2787C>A (p.Tyr929Ter)
n.4923C>A
6g.52025164T>ACA364432070PKHD1c.4646A>T (p.Tyr1549Phe)
c.4102-98A>T (n.4102-98A>T)
c.3935A>T (p.Tyr1312Phe)
c.4571A>T (p.Tyr1524Phe)
c.4382A>T (p.Tyr1461Phe)
c.2786A>T (p.Tyr929Phe)
n.4922A>T
6g.52025164T>CCA364432072PKHD1c.4646A>G (p.Tyr1549Cys)
c.4102-98A>G (n.4102-98A>G)
c.3935A>G (p.Tyr1312Cys)
c.4571A>G (p.Tyr1524Cys)
c.4382A>G (p.Tyr1461Cys)
c.2786A>G (p.Tyr929Cys)
n.4922A>G
6g.52025164T>GCA364432069PKHD1c.4646A>C (p.Tyr1549Ser)
c.4102-98A>C (n.4102-98A>C)
c.3935A>C (p.Tyr1312Ser)
c.4571A>C (p.Tyr1524Ser)
c.4382A>C (p.Tyr1461Ser)
c.2786A>C (p.Tyr929Ser)
n.4922A>C
6g.52025165A=CA1628647257PKHD1c.4645T= (p.Tyr1549=)
c.4102-99T= (n.4102-99T=)
c.3934T= (p.Tyr1312=)
c.4570T= (p.Tyr1524=)
c.4381T= (p.Tyr1461=)
c.2785T= (p.Tyr929=)
n.4921T=
6g.52025165A>CCA364432075PKHD1c.4645T>G (p.Tyr1549Asp)
c.4102-99T>G (n.4102-99T>G)
c.3934T>G (p.Tyr1312Asp)
c.4570T>G (p.Tyr1524Asp)
c.4381T>G (p.Tyr1461Asp)
c.2785T>G (p.Tyr929Asp)
n.4921T>G
6g.52025165A>GCA364432076PKHD1c.4645T>C (p.Tyr1549His)
c.4102-99T>C (n.4102-99T>C)
c.3934T>C (p.Tyr1312His)
c.4570T>C (p.Tyr1524His)
c.4381T>C (p.Tyr1461His)
c.2785T>C (p.Tyr929His)
n.4921T>C
6g.52025165A>TCA364432078PKHD1c.4645T>A (p.Tyr1549Asn)
c.4102-99T>A (n.4102-99T>A)
c.3934T>A (p.Tyr1312Asn)
c.4570T>A (p.Tyr1524Asn)
c.4381T>A (p.Tyr1461Asn)
c.2785T>A (p.Tyr929Asn)
n.4921T>A
6g.52025166delCA2499218372PKHD1c.4644del (p.Tyr1549ThrfsTer?)
c.4102-100del (n.4102-100del)
c.3933del (p.Tyr1312ThrfsTer?)
c.4569del (p.Tyr1524ThrfsTer?)
c.4380del (p.Tyr1461ThrfsTer?)
c.2784del (p.Tyr929ThrfsTer?)
n.4920del
 ClinVar dbSNP
6g.52025166G>ACA450614288PKHD1c.4644C>T (p.His1548=)
c.4102-100C>T (n.4102-100C>T)
c.3933C>T (p.His1311=)
c.4569C>T (p.His1523=)
c.4380C>T (p.His1460=)
c.2784C>T (p.His928=)
n.4920C>T
 dbSNP
6g.52025166G>CCA364432080PKHD1c.4644C>G (p.His1548Gln)
c.4102-100C>G (n.4102-100C>G)
c.3933C>G (p.His1311Gln)
c.4569C>G (p.His1523Gln)
c.4380C>G (p.His1460Gln)
c.2784C>G (p.His928Gln)
n.4920C>G
6g.52025166G=CA1628647261PKHD1c.4644C= (p.His1548=)
c.4102-100C= (n.4102-100C=)
c.3933C= (p.His1311=)
c.4569C= (p.His1523=)
c.4380C= (p.His1460=)
c.2784C= (p.His928=)
n.4920C=
6g.52025166G>TCA364432081PKHD1c.4644C>A (p.His1548Gln)
c.4102-100C>A (n.4102-100C>A)
c.3933C>A (p.His1311Gln)
c.4569C>A (p.His1523Gln)
c.4380C>A (p.His1460Gln)
c.2784C>A (p.His928Gln)
n.4920C>A
6g.52025167_52025168delCA2580075527PKHD1c.4643_4644del (p.His1548LeufsTer16)
c.4102-101_4102-100del (n.4102-101_4102-100del)
c.3932_3933del (p.His1311LeufsTer16)
c.4568_4569del (p.His1523LeufsTer16)
c.4379_4380del (p.His1460LeufsTer16)
c.2783_2784del (p.His928LeufsTer16)
n.4919_4920del
 ClinVar
6g.52025167_52025169dupCA917748341PKHD1c.4642_4644dup (p.His1548_Tyr1549insHis)
c.4102-102_4102-100dup (n.4102-102_4102-100dup)
c.3931_3933dup (p.His1311_Tyr1312insHis)
c.4567_4569dup (p.His1523_Tyr1524insHis)
c.4378_4380dup (p.His1460_Tyr1461insHis)
c.2782_2784dup (p.His928_Tyr929insHis)
n.4918_4920dup
 dbSNP gnomAD v4
6g.52025167T>ACA364432084PKHD1c.4643A>T (p.His1548Leu)
c.4102-101A>T (n.4102-101A>T)
c.3932A>T (p.His1311Leu)
c.4568A>T (p.His1523Leu)
c.4379A>T (p.His1460Leu)
c.2783A>T (p.His928Leu)
n.4919A>T
 gnomAD v4
6g.52025167T>CCA364432083PKHD1c.4643A>G (p.His1548Arg)
c.4102-101A>G (n.4102-101A>G)
c.3932A>G (p.His1311Arg)
c.4568A>G (p.His1523Arg)
c.4379A>G (p.His1460Arg)
c.2783A>G (p.His928Arg)
n.4919A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52025167T>GCA364432082PKHD1c.4643A>C (p.His1548Pro)
c.4102-101A>C (n.4102-101A>C)
c.3932A>C (p.His1311Pro)
c.4568A>C (p.His1523Pro)
c.4379A>C (p.His1460Pro)
c.2783A>C (p.His928Pro)
n.4919A>C
6g.52025167T=CA1628647266PKHD1c.4643A= (p.His1548=)
c.4102-101A= (n.4102-101A=)
c.3932A= (p.His1311=)
c.4568A= (p.His1523=)
c.4379A= (p.His1460=)
c.2783A= (p.His928=)
n.4919A=
6g.52025168G>ACA364432086PKHD1c.4642C>T (p.His1548Tyr)
c.4102-102C>T (n.4102-102C>T)
c.3931C>T (p.His1311Tyr)
c.4567C>T (p.His1523Tyr)
c.4378C>T (p.His1460Tyr)
c.2782C>T (p.His928Tyr)
n.4918C>T
6g.52025168G>CCA364432087PKHD1c.4642C>G (p.His1548Asp)
c.4102-102C>G (n.4102-102C>G)
c.3931C>G (p.His1311Asp)
c.4567C>G (p.His1523Asp)
c.4378C>G (p.His1460Asp)
c.2782C>G (p.His928Asp)
n.4918C>G
6g.52025168G>TCA364432088PKHD1c.4642C>A (p.His1548Asn)
c.4102-102C>A (n.4102-102C>A)
c.3931C>A (p.His1311Asn)
c.4567C>A (p.His1523Asn)
c.4378C>A (p.His1460Asn)
c.2782C>A (p.His928Asn)
n.4918C>A
6g.52025171dupCA2679084935PKHD1c.4642dup (p.His1548ProfsTer17)
c.4102-102dup (n.4102-102dup)
c.3931dup (p.His1311ProfsTer17)
c.4567dup (p.His1523ProfsTer17)
c.4378dup (p.His1460ProfsTer17)
c.2782dup (p.His928ProfsTer17)
n.4918dup
 gnomAD v4
6g.52025169G>ACA138946634PKHD1c.4641C>T (p.Pro1547=)
c.4102-103C>T (n.4102-103C>T)
c.3930C>T (p.Pro1310=)
c.4566C>T (p.Pro1522=)
c.4377C>T (p.Pro1459=)
c.2781C>T (p.Pro927=)
n.4917C>T
 dbSNP gnomAD v3 gnomAD v4
6g.52025169G>CCA450614293PKHD1c.4641C>G (p.Pro1547=)
c.4102-103C>G (n.4102-103C>G)
c.3930C>G (p.Pro1310=)
c.4566C>G (p.Pro1522=)
c.4377C>G (p.Pro1459=)
c.2781C>G (p.Pro927=)
n.4917C>G
6g.52025169G=CA1628647269PKHD1c.4641C= (p.Pro1547=)
c.4102-103C= (n.4102-103C=)
c.3930C= (p.Pro1310=)
c.4566C= (p.Pro1522=)
c.4377C= (p.Pro1459=)
c.2781C= (p.Pro927=)
n.4917C=
6g.52025169G>TCA450614292PKHD1c.4641C>A (p.Pro1547=)
c.4102-103C>A (n.4102-103C>A)
c.3930C>A (p.Pro1310=)
c.4566C>A (p.Pro1522=)
c.4377C>A (p.Pro1459=)
c.2781C>A (p.Pro927=)
n.4917C>A

Number of alleles fetched