Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.52025247_52025273delinsTCA2695198880PKHD1c.4537_4563delinsA (p.Ala1513ArgfsTer11)
c.4102-207_4102-181delinsA (n.4102-207_4102-181delinsA)
c.3826_3852delinsA (p.Ala1276ArgfsTer11)
c.4462_4488delinsA (p.Ala1488ArgfsTer11)
c.4273_4299delinsA (p.Ala1425ArgfsTer11)
c.2677_2703delinsA (p.Ala893ArgfsTer11)
n.4813_4839delinsA
 ClinVar
6g.52025255_52025273delinsATACCATCGGCTCATCAGCCA1628647431PKHD1c.4537_4555delinsGCTGATGAGCCGATGGTAT (p.Ala1513=)
c.4102-207_4102-189delinsGCTGATGAGCCGATGGTAT (n.4102-207_4102-189delinsGCTGATGAGCCGATGGTAT)
c.3826_3844delinsGCTGATGAGCCGATGGTAT (p.Ala1276=)
c.4462_4480delinsGCTGATGAGCCGATGGTAT (p.Ala1488=)
c.4273_4291delinsGCTGATGAGCCGATGGTAT (p.Ala1425=)
c.2677_2695delinsGCTGATGAGCCGATGGTAT (p.Ala893=)
n.4813_4831delinsGCTGATGAGCCGATGGTAT
6g.52025257_52025274delCA567636253PKHD1c.4537_4554del (p.Ala1513_Val1518del)
c.4102-207_4102-190del (n.4102-207_4102-190del)
c.3826_3843del (p.Ala1276_Val1281del)
c.4462_4479del (p.Ala1488_Val1493del)
c.4273_4290del (p.Ala1425_Val1430del)
c.2677_2694del (p.Ala893_Val898del)
n.4813_4830del
 dbSNP gnomAD v2 gnomAD v4
6g.52025259C>ACA364432493PKHD1c.4551G>T (p.Met1517Ile)
c.4102-193G>T (n.4102-193G>T)
c.3840G>T (p.Met1280Ile)
c.4476G>T (p.Met1492Ile)
c.4287G>T (p.Met1429Ile)
c.2691G>T (p.Met897Ile)
n.4827G>T
6g.52025259C>GCA364432488PKHD1c.4551G>C (p.Met1517Ile)
c.4102-193G>C (n.4102-193G>C)
c.3840G>C (p.Met1280Ile)
c.4476G>C (p.Met1492Ile)
c.4287G>C (p.Met1429Ile)
c.2691G>C (p.Met897Ile)
n.4827G>C
6g.52025259C>TCA364432491PKHD1c.4551G>A (p.Met1517Ile)
c.4102-193G>A (n.4102-193G>A)
c.3840G>A (p.Met1280Ile)
c.4476G>A (p.Met1492Ile)
c.4287G>A (p.Met1429Ile)
c.2691G>A (p.Met897Ile)
n.4827G>A
6g.52025260A>CCA364432495PKHD1c.4550T>G (p.Met1517Arg)
c.4102-194T>G (n.4102-194T>G)
c.3839T>G (p.Met1280Arg)
c.4475T>G (p.Met1492Arg)
c.4286T>G (p.Met1429Arg)
c.2690T>G (p.Met897Arg)
n.4826T>G
6g.52025260A>GCA364432496PKHD1c.4550T>C (p.Met1517Thr)
c.4102-194T>C (n.4102-194T>C)
c.3839T>C (p.Met1280Thr)
c.4475T>C (p.Met1492Thr)
c.4286T>C (p.Met1429Thr)
c.2690T>C (p.Met897Thr)
n.4826T>C
6g.52025260A>TCA364432498PKHD1c.4550T>A (p.Met1517Lys)
c.4102-194T>A (n.4102-194T>A)
c.3839T>A (p.Met1280Lys)
c.4475T>A (p.Met1492Lys)
c.4286T>A (p.Met1429Lys)
c.2690T>A (p.Met897Lys)
n.4826T>A
6g.52025261T>ACA364432501PKHD1c.4549A>T (p.Met1517Leu)
c.4102-195A>T (n.4102-195A>T)
c.3838A>T (p.Met1280Leu)
c.4474A>T (p.Met1492Leu)
c.4285A>T (p.Met1429Leu)
c.2689A>T (p.Met897Leu)
n.4825A>T
 gnomAD v4
6g.52025261T>CCA364432504PKHD1c.4549A>G (p.Met1517Val)
c.4102-195A>G (n.4102-195A>G)
c.3838A>G (p.Met1280Val)
c.4474A>G (p.Met1492Val)
c.4285A>G (p.Met1429Val)
c.2689A>G (p.Met897Val)
n.4825A>G
 ClinVar dbSNP gnomAD v4
6g.52025261T>GCA364432506PKHD1c.4549A>C (p.Met1517Leu)
c.4102-195A>C (n.4102-195A>C)
c.3838A>C (p.Met1280Leu)
c.4474A>C (p.Met1492Leu)
c.4285A>C (p.Met1429Leu)
c.2689A>C (p.Met897Leu)
n.4825A>C
6g.52025261T=CA1628647446PKHD1c.4549A= (p.Met1517=)
c.4102-195A= (n.4102-195A=)
c.3838A= (p.Met1280=)
c.4474A= (p.Met1492=)
c.4285A= (p.Met1429=)
c.2689A= (p.Met897=)
n.4825A=
6g.52025262C>ACA450614427PKHD1c.4548G>T (p.Pro1516=)
c.4102-196G>T (n.4102-196G>T)
c.3837G>T (p.Pro1279=)
c.4473G>T (p.Pro1491=)
c.4284G>T (p.Pro1428=)
c.2688G>T (p.Pro896=)
n.4824G>T
6g.52025262C=CA1628647450PKHD1c.4548G= (p.Pro1516=)
c.4102-196G= (n.4102-196G=)
c.3837G= (p.Pro1279=)
c.4473G= (p.Pro1491=)
c.4284G= (p.Pro1428=)
c.2688G= (p.Pro896=)
n.4824G=
6g.52025262C>GCA450614428PKHD1c.4548G>C (p.Pro1516=)
c.4102-196G>C (n.4102-196G>C)
c.3837G>C (p.Pro1279=)
c.4473G>C (p.Pro1491=)
c.4284G>C (p.Pro1428=)
c.2688G>C (p.Pro896=)
n.4824G>C
 ClinVar dbSNP
6g.52025262C>TCA3852702PKHD1c.4548G>A (p.Pro1516=)
c.4102-196G>A (n.4102-196G>A)
c.3837G>A (p.Pro1279=)
c.4473G>A (p.Pro1491=)
c.4284G>A (p.Pro1428=)
c.2688G>A (p.Pro896=)
n.4824G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52025263G>ACA3852703PKHD1c.4547C>T (p.Pro1516Leu)
c.4102-197C>T (n.4102-197C>T)
c.3836C>T (p.Pro1279Leu)
c.4472C>T (p.Pro1491Leu)
c.4283C>T (p.Pro1428Leu)
c.2687C>T (p.Pro896Leu)
n.4823C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52025263G>CCA364432511PKHD1c.4547C>G (p.Pro1516Arg)
c.4102-197C>G (n.4102-197C>G)
c.3836C>G (p.Pro1279Arg)
c.4472C>G (p.Pro1491Arg)
c.4283C>G (p.Pro1428Arg)
c.2687C>G (p.Pro896Arg)
n.4823C>G
 gnomAD v4
6g.52025263G=CA1628647453PKHD1c.4547C= (p.Pro1516=)
c.4102-197C= (n.4102-197C=)
c.3836C= (p.Pro1279=)
c.4472C= (p.Pro1491=)
c.4283C= (p.Pro1428=)
c.2687C= (p.Pro896=)
n.4823C=
6g.52025263G>TCA364432513PKHD1c.4547C>A (p.Pro1516Gln)
c.4102-197C>A (n.4102-197C>A)
c.3836C>A (p.Pro1279Gln)
c.4472C>A (p.Pro1491Gln)
c.4283C>A (p.Pro1428Gln)
c.2687C>A (p.Pro896Gln)
n.4823C>A
 dbSNP
6g.52025264G>ACA364432520PKHD1c.4546C>T (p.Pro1516Ser)
c.4102-198C>T (n.4102-198C>T)
c.3835C>T (p.Pro1279Ser)
c.4471C>T (p.Pro1491Ser)
c.4282C>T (p.Pro1428Ser)
c.2686C>T (p.Pro896Ser)
n.4822C>T
6g.52025264G>CCA364432518PKHD1c.4546C>G (p.Pro1516Ala)
c.4102-198C>G (n.4102-198C>G)
c.3835C>G (p.Pro1279Ala)
c.4471C>G (p.Pro1491Ala)
c.4282C>G (p.Pro1428Ala)
c.2686C>G (p.Pro896Ala)
n.4822C>G
6g.52025264G>TCA364432516PKHD1c.4546C>A (p.Pro1516Thr)
c.4102-198C>A (n.4102-198C>A)
c.3835C>A (p.Pro1279Thr)
c.4471C>A (p.Pro1491Thr)
c.4282C>A (p.Pro1428Thr)
c.2686C>A (p.Pro896Thr)
n.4822C>A
6g.52025265C>ACA364432521PKHD1c.4545G>T (p.Glu1515Asp)
c.4102-199G>T (n.4102-199G>T)
c.3834G>T (p.Glu1278Asp)
c.4470G>T (p.Glu1490Asp)
c.4281G>T (p.Glu1427Asp)
c.2685G>T (p.Glu895Asp)
n.4821G>T
6g.52025265C>GCA364432523PKHD1c.4545G>C (p.Glu1515Asp)
c.4102-199G>C (n.4102-199G>C)
c.3834G>C (p.Glu1278Asp)
c.4470G>C (p.Glu1490Asp)
c.4281G>C (p.Glu1427Asp)
c.2685G>C (p.Glu895Asp)
n.4821G>C
6g.52025265C>TCA450614430PKHD1c.4545G>A (p.Glu1515=)
c.4102-199G>A (n.4102-199G>A)
c.3834G>A (p.Glu1278=)
c.4470G>A (p.Glu1490=)
c.4281G>A (p.Glu1427=)
c.2685G>A (p.Glu895=)
n.4821G>A
 ClinVar dbSNP gnomAD v4
6g.52025266T>ACA364432525PKHD1c.4544A>T (p.Glu1515Val)
c.4102-200A>T (n.4102-200A>T)
c.3833A>T (p.Glu1278Val)
c.4469A>T (p.Glu1490Val)
c.4280A>T (p.Glu1427Val)
c.2684A>T (p.Glu895Val)
n.4820A>T
6g.52025266T>CCA364432527PKHD1c.4544A>G (p.Glu1515Gly)
c.4102-200A>G (n.4102-200A>G)
c.3833A>G (p.Glu1278Gly)
c.4469A>G (p.Glu1490Gly)
c.4280A>G (p.Glu1427Gly)
c.2684A>G (p.Glu895Gly)
n.4820A>G
 dbSNP gnomAD v2 gnomAD v4
6g.52025266T>GCA364432530PKHD1c.4544A>C (p.Glu1515Ala)
c.4102-200A>C (n.4102-200A>C)
c.3833A>C (p.Glu1278Ala)
c.4469A>C (p.Glu1490Ala)
c.4280A>C (p.Glu1427Ala)
c.2684A>C (p.Glu895Ala)
n.4820A>C
 dbSNP gnomAD v2 gnomAD v4
6g.52025266T=CA1628647457PKHD1c.4544A= (p.Glu1515=)
c.4102-200A= (n.4102-200A=)
c.3833A= (p.Glu1278=)
c.4469A= (p.Glu1490=)
c.4280A= (p.Glu1427=)
c.2684A= (p.Glu895=)
n.4820A=
6g.52025267C>ACA364432533PKHD1c.4543G>T (p.Glu1515Ter)
c.4102-201G>T (n.4102-201G>T)
c.3832G>T (p.Glu1278Ter)
c.4468G>T (p.Glu1490Ter)
c.4279G>T (p.Glu1427Ter)
c.2683G>T (p.Glu895Ter)
n.4819G>T
 ClinVar dbSNP gnomAD v4
6g.52025267C=CA1628647465PKHD1c.4543G= (p.Glu1515=)
c.4102-201G= (n.4102-201G=)
c.3832G= (p.Glu1278=)
c.4468G= (p.Glu1490=)
c.4279G= (p.Glu1427=)
c.2683G= (p.Glu895=)
n.4819G=
6g.52025267C>GCA364432534PKHD1c.4543G>C (p.Glu1515Gln)
c.4102-201G>C (n.4102-201G>C)
c.3832G>C (p.Glu1278Gln)
c.4468G>C (p.Glu1490Gln)
c.4279G>C (p.Glu1427Gln)
c.2683G>C (p.Glu895Gln)
n.4819G>C
6g.52025267C>TCA364432535PKHD1c.4543G>A (p.Glu1515Lys)
c.4102-201G>A (n.4102-201G>A)
c.3832G>A (p.Glu1278Lys)
c.4468G>A (p.Glu1490Lys)
c.4279G>A (p.Glu1427Lys)
c.2683G>A (p.Glu895Lys)
n.4819G>A
 dbSNP gnomAD v2 gnomAD v4
6g.52025268A>CCA364432537PKHD1c.4542T>G (p.Asp1514Glu)
c.4102-202T>G (n.4102-202T>G)
c.3831T>G (p.Asp1277Glu)
c.4467T>G (p.Asp1489Glu)
c.4278T>G (p.Asp1426Glu)
c.2682T>G (p.Asp894Glu)
n.4818T>G
6g.52025268A>GCA450614434PKHD1c.4542T>C (p.Asp1514=)
c.4102-202T>C (n.4102-202T>C)
c.3831T>C (p.Asp1277=)
c.4467T>C (p.Asp1489=)
c.4278T>C (p.Asp1426=)
c.2682T>C (p.Asp894=)
n.4818T>C
 ClinVar
6g.52025268A>TCA364432540PKHD1c.4542T>A (p.Asp1514Glu)
c.4102-202T>A (n.4102-202T>A)
c.3831T>A (p.Asp1277Glu)
c.4467T>A (p.Asp1489Glu)
c.4278T>A (p.Asp1426Glu)
c.2682T>A (p.Asp894Glu)
n.4818T>A
6g.52025269T>ACA364432542PKHD1c.4541A>T (p.Asp1514Val)
c.4102-203A>T (n.4102-203A>T)
c.3830A>T (p.Asp1277Val)
c.4466A>T (p.Asp1489Val)
c.4277A>T (p.Asp1426Val)
c.2681A>T (p.Asp894Val)
n.4817A>T
6g.52025269T>CCA364432545PKHD1c.4541A>G (p.Asp1514Gly)
c.4102-203A>G (n.4102-203A>G)
c.3830A>G (p.Asp1277Gly)
c.4466A>G (p.Asp1489Gly)
c.4277A>G (p.Asp1426Gly)
c.2681A>G (p.Asp894Gly)
n.4817A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52025269T>GCA364432547PKHD1c.4541A>C (p.Asp1514Ala)
c.4102-203A>C (n.4102-203A>C)
c.3830A>C (p.Asp1277Ala)
c.4466A>C (p.Asp1489Ala)
c.4277A>C (p.Asp1426Ala)
c.2681A>C (p.Asp894Ala)
n.4817A>C
6g.52025269T=CA1628647469PKHD1c.4541A= (p.Asp1514=)
c.4102-203A= (n.4102-203A=)
c.3830A= (p.Asp1277=)
c.4466A= (p.Asp1489=)
c.4277A= (p.Asp1426=)
c.2681A= (p.Asp894=)
n.4817A=
6g.52025270C>ACA364432553PKHD1c.4540G>T (p.Asp1514Tyr)
c.4102-204G>T (n.4102-204G>T)
c.3829G>T (p.Asp1277Tyr)
c.4465G>T (p.Asp1489Tyr)
c.4276G>T (p.Asp1426Tyr)
c.2680G>T (p.Asp894Tyr)
n.4816G>T
6g.52025270C=CA1628647477PKHD1c.4540G= (p.Asp1514=)
c.4102-204G= (n.4102-204G=)
c.3829G= (p.Asp1277=)
c.4465G= (p.Asp1489=)
c.4276G= (p.Asp1426=)
c.2680G= (p.Asp894=)
n.4816G=
6g.52025270C>GCA3852704PKHD1c.4540G>C (p.Asp1514His)
c.4102-204G>C (n.4102-204G>C)
c.3829G>C (p.Asp1277His)
c.4465G>C (p.Asp1489His)
c.4276G>C (p.Asp1426His)
c.2680G>C (p.Asp894His)
n.4816G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52025270C>TCA364432550PKHD1c.4540G>A (p.Asp1514Asn)
c.4102-204G>A (n.4102-204G>A)
c.3829G>A (p.Asp1277Asn)
c.4465G>A (p.Asp1489Asn)
c.4276G>A (p.Asp1426Asn)
c.2680G>A (p.Asp894Asn)
n.4816G>A
 COSMIC COSMIC
6g.52025271A>CCA450614441PKHD1c.4539T>G (p.Ala1513=)
c.4102-205T>G (n.4102-205T>G)
c.3828T>G (p.Ala1276=)
c.4464T>G (p.Ala1488=)
c.4275T>G (p.Ala1425=)
c.2679T>G (p.Ala893=)
n.4815T>G
6g.52025271A>GCA450614442PKHD1c.4539T>C (p.Ala1513=)
c.4102-205T>C (n.4102-205T>C)
c.3828T>C (p.Ala1276=)
c.4464T>C (p.Ala1488=)
c.4275T>C (p.Ala1425=)
c.2679T>C (p.Ala893=)
n.4815T>C
 ClinVar dbSNP gnomAD v4
6g.52025271A>TCA450614443PKHD1c.4539T>A (p.Ala1513=)
c.4102-205T>A (n.4102-205T>A)
c.3828T>A (p.Ala1276=)
c.4464T>A (p.Ala1488=)
c.4275T>A (p.Ala1425=)
c.2679T>A (p.Ala893=)
n.4815T>A
6g.52025272G>ACA364432561PKHD1c.4538C>T (p.Ala1513Val)
c.4102-206C>T (n.4102-206C>T)
c.3827C>T (p.Ala1276Val)
c.4463C>T (p.Ala1488Val)
c.4274C>T (p.Ala1425Val)
c.2678C>T (p.Ala893Val)
n.4814C>T

Number of alleles fetched