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.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
6g.52025170G>ACA364432092PKHD1c.4640C>T (p.Pro1547Leu)
c.4102-104C>T (n.4102-104C>T)
c.3929C>T (p.Pro1310Leu)
c.4565C>T (p.Pro1522Leu)
c.4376C>T (p.Pro1459Leu)
c.2780C>T (p.Pro927Leu)
n.4916C>T
6g.52025170G>CCA364432095PKHD1c.4640C>G (p.Pro1547Arg)
c.4102-104C>G (n.4102-104C>G)
c.3929C>G (p.Pro1310Arg)
c.4565C>G (p.Pro1522Arg)
c.4376C>G (p.Pro1459Arg)
c.2780C>G (p.Pro927Arg)
n.4916C>G
6g.52025170G>TCA364432098PKHD1c.4640C>A (p.Pro1547His)
c.4102-104C>A (n.4102-104C>A)
c.3929C>A (p.Pro1310His)
c.4565C>A (p.Pro1522His)
c.4376C>A (p.Pro1459His)
c.2780C>A (p.Pro927His)
n.4916C>A
gnomAD v4
6g.52025171G>ACA3852692PKHD1c.4639C>T (p.Pro1547Ser)
c.4102-105C>T (n.4102-105C>T)
c.3928C>T (p.Pro1310Ser)
c.4564C>T (p.Pro1522Ser)
c.4375C>T (p.Pro1459Ser)
c.2779C>T (p.Pro927Ser)
n.4915C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.52025171G>CCA3852691PKHD1c.4639C>G (p.Pro1547Ala)
c.4102-105C>G (n.4102-105C>G)
c.3928C>G (p.Pro1310Ala)
c.4564C>G (p.Pro1522Ala)
c.4375C>G (p.Pro1459Ala)
c.2779C>G (p.Pro927Ala)
n.4915C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52025171G=CA1628647271PKHD1c.4639C= (p.Pro1547=)
c.4102-105C= (n.4102-105C=)
c.3928C= (p.Pro1310=)
c.4564C= (p.Pro1522=)
c.4375C= (p.Pro1459=)
c.2779C= (p.Pro927=)
n.4915C=
6g.52025171G>TCA364432102PKHD1c.4639C>A (p.Pro1547Thr)
c.4102-105C>A (n.4102-105C>A)
c.3928C>A (p.Pro1310Thr)
c.4564C>A (p.Pro1522Thr)
c.4375C>A (p.Pro1459Thr)
c.2779C>A (p.Pro927Thr)
n.4915C>A
6g.52025172T>ACA450614294PKHD1c.4638A>T (p.Gly1546=)
c.4102-106A>T (n.4102-106A>T)
c.3927A>T (p.Gly1309=)
c.4563A>T (p.Gly1521=)
c.4374A>T (p.Gly1458=)
c.2778A>T (p.Gly926=)
n.4914A>T
ClinVar gnomAD v4
6g.52025172T>CCA450614295PKHD1c.4638A>G (p.Gly1546=)
c.4102-106A>G (n.4102-106A>G)
c.3927A>G (p.Gly1309=)
c.4563A>G (p.Gly1521=)
c.4374A>G (p.Gly1458=)
c.2778A>G (p.Gly926=)
n.4914A>G
ClinVar dbSNP
6g.52025172T>GCA450614296PKHD1c.4638A>C (p.Gly1546=)
c.4102-106A>C (n.4102-106A>C)
c.3927A>C (p.Gly1309=)
c.4563A>C (p.Gly1521=)
c.4374A>C (p.Gly1458=)
c.2778A>C (p.Gly926=)
n.4914A>C
6g.52025173C>ACA364432106PKHD1c.4637G>T (p.Gly1546Val)
c.4102-107G>T (n.4102-107G>T)
c.3926G>T (p.Gly1309Val)
c.4562G>T (p.Gly1521Val)
c.4373G>T (p.Gly1458Val)
c.2777G>T (p.Gly926Val)
n.4913G>T
COSMIC
6g.52025173C>GCA364432108PKHD1c.4637G>C (p.Gly1546Ala)
c.4102-107G>C (n.4102-107G>C)
c.3926G>C (p.Gly1309Ala)
c.4562G>C (p.Gly1521Ala)
c.4373G>C (p.Gly1458Ala)
c.2777G>C (p.Gly926Ala)
n.4913G>C
6g.52025173C>TCA364432110PKHD1c.4637G>A (p.Gly1546Glu)
c.4102-107G>A (n.4102-107G>A)
c.3926G>A (p.Gly1309Glu)
c.4562G>A (p.Gly1521Glu)
c.4373G>A (p.Gly1458Glu)
c.2777G>A (p.Gly926Glu)
n.4913G>A
6g.52025174C>ACA364432114PKHD1c.4636G>T (p.Gly1546Ter)
c.4102-108G>T (n.4102-108G>T)
c.3925G>T (p.Gly1309Ter)
c.4561G>T (p.Gly1521Ter)
c.4372G>T (p.Gly1458Ter)
c.2776G>T (p.Gly926Ter)
n.4912G>T

Number of alleles fetched