Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.52024840G>ACA364430331PKHD1c.4970C>T (p.Thr1657Ile)
c.4328C>T (p.Thr1443Ile)
c.4259C>T (p.Thr1420Ile)
c.4895C>T (p.Thr1632Ile)
c.4706C>T (p.Thr1569Ile)
c.3110C>T (p.Thr1037Ile)
n.5246C>T
6g.52024840G>CCA364430333PKHD1c.4970C>G (p.Thr1657Ser)
c.4328C>G (p.Thr1443Ser)
c.4259C>G (p.Thr1420Ser)
c.4895C>G (p.Thr1632Ser)
c.4706C>G (p.Thr1569Ser)
c.3110C>G (p.Thr1037Ser)
n.5246C>G
6g.52024840G>TCA364430334PKHD1c.4970C>A (p.Thr1657Asn)
c.4328C>A (p.Thr1443Asn)
c.4259C>A (p.Thr1420Asn)
c.4895C>A (p.Thr1632Asn)
c.4706C>A (p.Thr1569Asn)
c.3110C>A (p.Thr1037Asn)
n.5246C>A
6g.52024841T>ACA364430336PKHD1c.4969A>T (p.Thr1657Ser)
c.4327A>T (p.Thr1443Ser)
c.4258A>T (p.Thr1420Ser)
c.4894A>T (p.Thr1632Ser)
c.4705A>T (p.Thr1569Ser)
c.3109A>T (p.Thr1037Ser)
n.5245A>T
6g.52024841T>CCA364430337PKHD1c.4969A>G (p.Thr1657Ala)
c.4327A>G (p.Thr1443Ala)
c.4258A>G (p.Thr1420Ala)
c.4894A>G (p.Thr1632Ala)
c.4705A>G (p.Thr1569Ala)
c.3109A>G (p.Thr1037Ala)
n.5245A>G
6g.52024841T>GCA364430339PKHD1c.4969A>C (p.Thr1657Pro)
c.4327A>C (p.Thr1443Pro)
c.4258A>C (p.Thr1420Pro)
c.4894A>C (p.Thr1632Pro)
c.4705A>C (p.Thr1569Pro)
c.3109A>C (p.Thr1037Pro)
n.5245A>C
6g.52024842A>CCA364430343PKHD1c.4968T>G (p.Phe1656Leu)
c.4326T>G (p.Phe1442Leu)
c.4257T>G (p.Phe1419Leu)
c.4893T>G (p.Phe1631Leu)
c.4704T>G (p.Phe1568Leu)
c.3108T>G (p.Phe1036Leu)
n.5244T>G
6g.52024842A>GCA450613891PKHD1c.4968T>C (p.Phe1656=)
c.4326T>C (p.Phe1442=)
c.4257T>C (p.Phe1419=)
c.4893T>C (p.Phe1631=)
c.4704T>C (p.Phe1568=)
c.3108T>C (p.Phe1036=)
n.5244T>C
6g.52024842A>TCA364430341PKHD1c.4968T>A (p.Phe1656Leu)
c.4326T>A (p.Phe1442Leu)
c.4257T>A (p.Phe1419Leu)
c.4893T>A (p.Phe1631Leu)
c.4704T>A (p.Phe1568Leu)
c.3108T>A (p.Phe1036Leu)
n.5244T>A
6g.52024843A>CCA364430347PKHD1c.4967T>G (p.Phe1656Cys)
c.4325T>G (p.Phe1442Cys)
c.4256T>G (p.Phe1419Cys)
c.4892T>G (p.Phe1631Cys)
c.4703T>G (p.Phe1568Cys)
c.3107T>G (p.Phe1036Cys)
n.5243T>G
6g.52024843A>GCA364430349PKHD1c.4967T>C (p.Phe1656Ser)
c.4325T>C (p.Phe1442Ser)
c.4256T>C (p.Phe1419Ser)
c.4892T>C (p.Phe1631Ser)
c.4703T>C (p.Phe1568Ser)
c.3107T>C (p.Phe1036Ser)
n.5243T>C
6g.52024843A>TCA364430351PKHD1c.4967T>A (p.Phe1656Tyr)
c.4325T>A (p.Phe1442Tyr)
c.4256T>A (p.Phe1419Tyr)
c.4892T>A (p.Phe1631Tyr)
c.4703T>A (p.Phe1568Tyr)
c.3107T>A (p.Phe1036Tyr)
n.5243T>A
6g.52024844A>CCA364430354PKHD1c.4966T>G (p.Phe1656Val)
c.4324T>G (p.Phe1442Val)
c.4255T>G (p.Phe1419Val)
c.4891T>G (p.Phe1631Val)
c.4702T>G (p.Phe1568Val)
c.3106T>G (p.Phe1036Val)
n.5242T>G
6g.52024844A>GCA364430356PKHD1c.4966T>C (p.Phe1656Leu)
c.4324T>C (p.Phe1442Leu)
c.4255T>C (p.Phe1419Leu)
c.4891T>C (p.Phe1631Leu)
c.4702T>C (p.Phe1568Leu)
c.3106T>C (p.Phe1036Leu)
n.5242T>C
 gnomAD v4
6g.52024844A>TCA364430358PKHD1c.4966T>A (p.Phe1656Ile)
c.4324T>A (p.Phe1442Ile)
c.4255T>A (p.Phe1419Ile)
c.4891T>A (p.Phe1631Ile)
c.4702T>A (p.Phe1568Ile)
c.3106T>A (p.Phe1036Ile)
n.5242T>A
6g.52024845G>ACA450613892PKHD1c.4965C>T (p.Ala1655=)
c.4323C>T (p.Ala1441=)
c.4254C>T (p.Ala1418=)
c.4890C>T (p.Ala1630=)
c.4701C>T (p.Ala1567=)
c.3105C>T (p.Ala1035=)
n.5241C>T
6g.52024845G>CCA450613893PKHD1c.4965C>G (p.Ala1655=)
c.4323C>G (p.Ala1441=)
c.4254C>G (p.Ala1418=)
c.4890C>G (p.Ala1630=)
c.4701C>G (p.Ala1567=)
c.3105C>G (p.Ala1035=)
n.5241C>G
6g.52024845G>TCA450613894PKHD1c.4965C>A (p.Ala1655=)
c.4323C>A (p.Ala1441=)
c.4254C>A (p.Ala1418=)
c.4890C>A (p.Ala1630=)
c.4701C>A (p.Ala1567=)
c.3105C>A (p.Ala1035=)
n.5241C>A
6g.52024846G>ACA364430364PKHD1c.4964C>T (p.Ala1655Val)
c.4322C>T (p.Ala1441Val)
c.4253C>T (p.Ala1418Val)
c.4889C>T (p.Ala1630Val)
c.4700C>T (p.Ala1567Val)
c.3104C>T (p.Ala1035Val)
n.5240C>T
 gnomAD v4
6g.52024846G>CCA364430360PKHD1c.4964C>G (p.Ala1655Gly)
c.4322C>G (p.Ala1441Gly)
c.4253C>G (p.Ala1418Gly)
c.4889C>G (p.Ala1630Gly)
c.4700C>G (p.Ala1567Gly)
c.3104C>G (p.Ala1035Gly)
n.5240C>G
6g.52024846G>TCA364430363PKHD1c.4964C>A (p.Ala1655Asp)
c.4322C>A (p.Ala1441Asp)
c.4253C>A (p.Ala1418Asp)
c.4889C>A (p.Ala1630Asp)
c.4700C>A (p.Ala1567Asp)
c.3104C>A (p.Ala1035Asp)
n.5240C>A
6g.52024847C>ACA364430367PKHD1c.4963G>T (p.Ala1655Ser)
c.4321G>T (p.Ala1441Ser)
c.4252G>T (p.Ala1418Ser)
c.4888G>T (p.Ala1630Ser)
c.4699G>T (p.Ala1567Ser)
c.3103G>T (p.Ala1035Ser)
n.5239G>T
 dbSNP gnomAD v2 gnomAD v4
6g.52024847C=CA1628646768PKHD1c.4963G= (p.Ala1655=)
c.4321G= (p.Ala1441=)
c.4252G= (p.Ala1418=)
c.4888G= (p.Ala1630=)
c.4699G= (p.Ala1567=)
c.3103G= (p.Ala1035=)
n.5239G=
6g.52024847C>GCA364430369PKHD1c.4963G>C (p.Ala1655Pro)
c.4321G>C (p.Ala1441Pro)
c.4252G>C (p.Ala1418Pro)
c.4888G>C (p.Ala1630Pro)
c.4699G>C (p.Ala1567Pro)
c.3103G>C (p.Ala1035Pro)
n.5239G>C
6g.52024847C>TCA364430372PKHD1c.4963G>A (p.Ala1655Thr)
c.4321G>A (p.Ala1441Thr)
c.4252G>A (p.Ala1418Thr)
c.4888G>A (p.Ala1630Thr)
c.4699G>A (p.Ala1567Thr)
c.3103G>A (p.Ala1035Thr)
n.5239G>A
 dbSNP gnomAD v2 gnomAD v4
6g.52024848C>ACA364430375PKHD1c.4962G>T (p.Lys1654Asn)
c.4320G>T (p.Lys1440Asn)
c.4251G>T (p.Lys1417Asn)
c.4887G>T (p.Lys1629Asn)
c.4698G>T (p.Lys1566Asn)
c.3102G>T (p.Lys1034Asn)
n.5238G>T
 dbSNP
6g.52024848C=CA1628646771PKHD1c.4962G= (p.Lys1654=)
c.4320G= (p.Lys1440=)
c.4251G= (p.Lys1417=)
c.4887G= (p.Lys1629=)
c.4698G= (p.Lys1566=)
c.3102G= (p.Lys1034=)
n.5238G=
6g.52024848C>GCA364430376PKHD1c.4962G>C (p.Lys1654Asn)
c.4320G>C (p.Lys1440Asn)
c.4251G>C (p.Lys1417Asn)
c.4887G>C (p.Lys1629Asn)
c.4698G>C (p.Lys1566Asn)
c.3102G>C (p.Lys1034Asn)
n.5238G>C
6g.52024848C>TCA450613895PKHD1c.4962G>A (p.Lys1654=)
c.4320G>A (p.Lys1440=)
c.4251G>A (p.Lys1417=)
c.4887G>A (p.Lys1629=)
c.4698G>A (p.Lys1566=)
c.3102G>A (p.Lys1034=)
n.5238G>A
 dbSNP
6g.52024849T>ACA364430379PKHD1c.4961A>T (p.Lys1654Met)
c.4319A>T (p.Lys1440Met)
c.4250A>T (p.Lys1417Met)
c.4886A>T (p.Lys1629Met)
c.4697A>T (p.Lys1566Met)
c.3101A>T (p.Lys1034Met)
n.5237A>T
6g.52024849T>CCA364430381PKHD1c.4961A>G (p.Lys1654Arg)
c.4319A>G (p.Lys1440Arg)
c.4250A>G (p.Lys1417Arg)
c.4886A>G (p.Lys1629Arg)
c.4697A>G (p.Lys1566Arg)
c.3101A>G (p.Lys1034Arg)
n.5237A>G
6g.52024849T>GCA364430384PKHD1c.4961A>C (p.Lys1654Thr)
c.4319A>C (p.Lys1440Thr)
c.4250A>C (p.Lys1417Thr)
c.4886A>C (p.Lys1629Thr)
c.4697A>C (p.Lys1566Thr)
c.3101A>C (p.Lys1034Thr)
n.5237A>C
 COSMIC COSMIC
6g.52024850T>ACA364430386PKHD1c.4960A>T (p.Lys1654Ter)
c.4318A>T (p.Lys1440Ter)
c.4249A>T (p.Lys1417Ter)
c.4885A>T (p.Lys1629Ter)
c.4696A>T (p.Lys1566Ter)
c.3100A>T (p.Lys1034Ter)
n.5236A>T
6g.52024850T>CCA364430388PKHD1c.4960A>G (p.Lys1654Glu)
c.4318A>G (p.Lys1440Glu)
c.4249A>G (p.Lys1417Glu)
c.4885A>G (p.Lys1629Glu)
c.4696A>G (p.Lys1566Glu)
c.3100A>G (p.Lys1034Glu)
n.5236A>G
6g.52024850T>GCA364430390PKHD1c.4960A>C (p.Lys1654Gln)
c.4318A>C (p.Lys1440Gln)
c.4249A>C (p.Lys1417Gln)
c.4885A>C (p.Lys1629Gln)
c.4696A>C (p.Lys1566Gln)
c.3100A>C (p.Lys1034Gln)
n.5236A>C
6g.52024851G>ACA450613896PKHD1c.4959C>T (p.Asn1653=)
c.4317C>T (p.Asn1439=)
c.4248C>T (p.Asn1416=)
c.4884C>T (p.Asn1628=)
c.4695C>T (p.Asn1565=)
c.3099C>T (p.Asn1033=)
n.5235C>T
 ClinVar dbSNP
6g.52024851G>CCA364430393PKHD1c.4959C>G (p.Asn1653Lys)
c.4317C>G (p.Asn1439Lys)
c.4248C>G (p.Asn1416Lys)
c.4884C>G (p.Asn1628Lys)
c.4695C>G (p.Asn1565Lys)
c.3099C>G (p.Asn1033Lys)
n.5235C>G
6g.52024851G>TCA364430395PKHD1c.4959C>A (p.Asn1653Lys)
c.4317C>A (p.Asn1439Lys)
c.4248C>A (p.Asn1416Lys)
c.4884C>A (p.Asn1628Lys)
c.4695C>A (p.Asn1565Lys)
c.3099C>A (p.Asn1033Lys)
n.5235C>A
6g.52024852T>ACA364430399PKHD1c.4958A>T (p.Asn1653Ile)
c.4316A>T (p.Asn1439Ile)
c.4247A>T (p.Asn1416Ile)
c.4883A>T (p.Asn1628Ile)
c.4694A>T (p.Asn1565Ile)
c.3098A>T (p.Asn1033Ile)
n.5234A>T
6g.52024852T>CCA364430403PKHD1c.4958A>G (p.Asn1653Ser)
c.4316A>G (p.Asn1439Ser)
c.4247A>G (p.Asn1416Ser)
c.4883A>G (p.Asn1628Ser)
c.4694A>G (p.Asn1565Ser)
c.3098A>G (p.Asn1033Ser)
n.5234A>G
 dbSNP gnomAD v4
6g.52024852T>GCA364430402PKHD1c.4958A>C (p.Asn1653Thr)
c.4316A>C (p.Asn1439Thr)
c.4247A>C (p.Asn1416Thr)
c.4883A>C (p.Asn1628Thr)
c.4694A>C (p.Asn1565Thr)
c.3098A>C (p.Asn1033Thr)
n.5234A>C
6g.52024852T=CA1628646774PKHD1c.4958A= (p.Asn1653=)
c.4316A= (p.Asn1439=)
c.4247A= (p.Asn1416=)
c.4883A= (p.Asn1628=)
c.4694A= (p.Asn1565=)
c.3098A= (p.Asn1033=)
n.5234A=
6g.52024853T>ACA364430406PKHD1c.4957A>T (p.Asn1653Tyr)
c.4315A>T (p.Asn1439Tyr)
c.4246A>T (p.Asn1416Tyr)
c.4882A>T (p.Asn1628Tyr)
c.4693A>T (p.Asn1565Tyr)
c.3097A>T (p.Asn1033Tyr)
n.5233A>T
6g.52024853T>CCA364430408PKHD1c.4957A>G (p.Asn1653Asp)
c.4315A>G (p.Asn1439Asp)
c.4246A>G (p.Asn1416Asp)
c.4882A>G (p.Asn1628Asp)
c.4693A>G (p.Asn1565Asp)
c.3097A>G (p.Asn1033Asp)
n.5233A>G
6g.52024853T>GCA364430409PKHD1c.4957A>C (p.Asn1653His)
c.4315A>C (p.Asn1439His)
c.4246A>C (p.Asn1416His)
c.4882A>C (p.Asn1628His)
c.4693A>C (p.Asn1565His)
c.3097A>C (p.Asn1033His)
n.5233A>C
6g.52024854A=CA1628646776PKHD1c.4956T= (p.Tyr1652=)
c.4314T= (p.Tyr1438=)
c.4245T= (p.Tyr1415=)
c.4881T= (p.Tyr1627=)
c.4692T= (p.Tyr1564=)
c.3096T= (p.Tyr1032=)
n.5232T=
6g.52024854A>CCA364430411PKHD1c.4956T>G (p.Tyr1652Ter)
c.4314T>G (p.Tyr1438Ter)
c.4245T>G (p.Tyr1415Ter)
c.4881T>G (p.Tyr1627Ter)
c.4692T>G (p.Tyr1564Ter)
c.3096T>G (p.Tyr1032Ter)
n.5232T>G
6g.52024854A>GCA3852637PKHD1c.4956T>C (p.Tyr1652=)
c.4314T>C (p.Tyr1438=)
c.4245T>C (p.Tyr1415=)
c.4881T>C (p.Tyr1627=)
c.4692T>C (p.Tyr1564=)
c.3096T>C (p.Tyr1032=)
n.5232T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024854A>TCA364430415PKHD1c.4956T>A (p.Tyr1652Ter)
c.4314T>A (p.Tyr1438Ter)
c.4245T>A (p.Tyr1415Ter)
c.4881T>A (p.Tyr1627Ter)
c.4692T>A (p.Tyr1564Ter)
c.3096T>A (p.Tyr1032Ter)
n.5232T>A
6g.52024855T>ACA364430417PKHD1c.4955A>T (p.Tyr1652Phe)
c.4313A>T (p.Tyr1438Phe)
c.4244A>T (p.Tyr1415Phe)
c.4880A>T (p.Tyr1627Phe)
c.4691A>T (p.Tyr1564Phe)
c.3095A>T (p.Tyr1032Phe)
n.5231A>T

Number of alleles fetched