Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.52024982G>ACA138946405PKHD1c.4828C>T (p.Gln1610Ter)
c.4186C>T (p.Gln1396Ter)
c.4117C>T (p.Gln1373Ter)
c.4753C>T (p.Gln1585Ter)
c.4564C>T (p.Gln1522Ter)
c.2968C>T (p.Gln990Ter)
n.5104C>T
 dbSNP
6g.52024982G>CCA364431187PKHD1c.4828C>G (p.Gln1610Glu)
c.4186C>G (p.Gln1396Glu)
c.4117C>G (p.Gln1373Glu)
c.4753C>G (p.Gln1585Glu)
c.4564C>G (p.Gln1522Glu)
c.2968C>G (p.Gln990Glu)
n.5104C>G
6g.52024982G=CA1628646996PKHD1c.4828C= (p.Gln1610=)
c.4186C= (p.Gln1396=)
c.4117C= (p.Gln1373=)
c.4753C= (p.Gln1585=)
c.4564C= (p.Gln1522=)
c.2968C= (p.Gln990=)
n.5104C=
6g.52024982G>TCA3852664PKHD1c.4828C>A (p.Gln1610Lys)
c.4186C>A (p.Gln1396Lys)
c.4117C>A (p.Gln1373Lys)
c.4753C>A (p.Gln1585Lys)
c.4564C>A (p.Gln1522Lys)
c.2968C>A (p.Gln990Lys)
n.5104C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024983G>ACA450614046PKHD1c.4827C>T (p.Asp1609=)
c.4185C>T (p.Asp1395=)
c.4116C>T (p.Asp1372=)
c.4752C>T (p.Asp1584=)
c.4563C>T (p.Asp1521=)
c.2967C>T (p.Asp989=)
n.5103C>T
 ClinVar
6g.52024983G>CCA364431190PKHD1c.4827C>G (p.Asp1609Glu)
c.4185C>G (p.Asp1395Glu)
c.4116C>G (p.Asp1372Glu)
c.4752C>G (p.Asp1584Glu)
c.4563C>G (p.Asp1521Glu)
c.2967C>G (p.Asp989Glu)
n.5103C>G
6g.52024983G>TCA364431191PKHD1c.4827C>A (p.Asp1609Glu)
c.4185C>A (p.Asp1395Glu)
c.4116C>A (p.Asp1372Glu)
c.4752C>A (p.Asp1584Glu)
c.4563C>A (p.Asp1521Glu)
c.2967C>A (p.Asp989Glu)
n.5103C>A
6g.52024984T>ACA364431194PKHD1c.4826A>T (p.Asp1609Val)
c.4184A>T (p.Asp1395Val)
c.4115A>T (p.Asp1372Val)
c.4751A>T (p.Asp1584Val)
c.4562A>T (p.Asp1521Val)
c.2966A>T (p.Asp989Val)
n.5102A>T
6g.52024984T>CCA364431195PKHD1c.4826A>G (p.Asp1609Gly)
c.4184A>G (p.Asp1395Gly)
c.4115A>G (p.Asp1372Gly)
c.4751A>G (p.Asp1584Gly)
c.4562A>G (p.Asp1521Gly)
c.2966A>G (p.Asp989Gly)
n.5102A>G
6g.52024984T>GCA364431196PKHD1c.4826A>C (p.Asp1609Ala)
c.4184A>C (p.Asp1395Ala)
c.4115A>C (p.Asp1372Ala)
c.4751A>C (p.Asp1584Ala)
c.4562A>C (p.Asp1521Ala)
c.2966A>C (p.Asp989Ala)
n.5102A>C
 gnomAD v4
6g.52024985C>ACA364431198PKHD1c.4825G>T (p.Asp1609Tyr)
c.4183G>T (p.Asp1395Tyr)
c.4114G>T (p.Asp1372Tyr)
c.4750G>T (p.Asp1584Tyr)
c.4561G>T (p.Asp1521Tyr)
c.2965G>T (p.Asp989Tyr)
n.5101G>T
6g.52024985C>GCA364431202PKHD1c.4825G>C (p.Asp1609His)
c.4183G>C (p.Asp1395His)
c.4114G>C (p.Asp1372His)
c.4750G>C (p.Asp1584His)
c.4561G>C (p.Asp1521His)
c.2965G>C (p.Asp989His)
n.5101G>C
6g.52024985C>TCA364431201PKHD1c.4825G>A (p.Asp1609Asn)
c.4183G>A (p.Asp1395Asn)
c.4114G>A (p.Asp1372Asn)
c.4750G>A (p.Asp1584Asn)
c.4561G>A (p.Asp1521Asn)
c.2965G>A (p.Asp989Asn)
n.5101G>A
6g.52024986A>CCA364431203PKHD1c.4824T>G (p.Ile1608Met)
c.4182T>G (p.Ile1394Met)
c.4113T>G (p.Ile1371Met)
c.4749T>G (p.Ile1583Met)
c.4560T>G (p.Ile1520Met)
c.2964T>G (p.Ile988Met)
n.5100T>G
6g.52024986A>GCA450614047PKHD1c.4824T>C (p.Ile1608=)
c.4182T>C (p.Ile1394=)
c.4113T>C (p.Ile1371=)
c.4749T>C (p.Ile1583=)
c.4560T>C (p.Ile1520=)
c.2964T>C (p.Ile988=)
n.5100T>C
6g.52024986A>TCA450614048PKHD1c.4824T>A (p.Ile1608=)
c.4182T>A (p.Ile1394=)
c.4113T>A (p.Ile1371=)
c.4749T>A (p.Ile1583=)
c.4560T>A (p.Ile1520=)
c.2964T>A (p.Ile988=)
n.5100T>A
6g.52024986_52024988delinsAATCA1628646999PKHD1c.4822_4824delinsATT (p.Ile1608=)
c.4180_4182delinsATT (p.Ile1394=)
c.4111_4113delinsATT (p.Ile1371=)
c.4747_4749delinsATT (p.Ile1583=)
c.4558_4560delinsATT (p.Ile1520=)
c.2962_2964delinsATT (p.Ile988=)
n.5098_5100delinsATT
6g.52024987A>CCA364431206PKHD1c.4823T>G (p.Ile1608Ser)
c.4181T>G (p.Ile1394Ser)
c.4112T>G (p.Ile1371Ser)
c.4748T>G (p.Ile1583Ser)
c.4559T>G (p.Ile1520Ser)
c.2963T>G (p.Ile988Ser)
n.5099T>G
6g.52024987A>GCA364431208PKHD1c.4823T>C (p.Ile1608Thr)
c.4181T>C (p.Ile1394Thr)
c.4112T>C (p.Ile1371Thr)
c.4748T>C (p.Ile1583Thr)
c.4559T>C (p.Ile1520Thr)
c.2963T>C (p.Ile988Thr)
n.5099T>C
6g.52024987A>TCA364431210PKHD1c.4823T>A (p.Ile1608Asn)
c.4181T>A (p.Ile1394Asn)
c.4112T>A (p.Ile1371Asn)
c.4748T>A (p.Ile1583Asn)
c.4559T>A (p.Ile1520Asn)
c.2963T>A (p.Ile988Asn)
n.5099T>A
6g.52024990_52024991delCA16041052PKHD1c.4822_4823del (p.Ile1608Ter)
c.4180_4181del (p.Ile1394Ter)
c.4111_4112del (p.Ile1371Ter)
c.4747_4748del (p.Ile1583Ter)
c.4558_4559del (p.Ile1520Ter)
c.2962_2963del (p.Ile988Ter)
n.5098_5099del
 ClinVar dbSNP gnomAD v4
6g.52024988T>ACA364431218PKHD1c.4822A>T (p.Ile1608Phe)
c.4180A>T (p.Ile1394Phe)
c.4111A>T (p.Ile1371Phe)
c.4747A>T (p.Ile1583Phe)
c.4558A>T (p.Ile1520Phe)
c.2962A>T (p.Ile988Phe)
n.5098A>T
 gnomAD v4
6g.52024988T>CCA364431220PKHD1c.4822A>G (p.Ile1608Val)
c.4180A>G (p.Ile1394Val)
c.4111A>G (p.Ile1371Val)
c.4747A>G (p.Ile1583Val)
c.4558A>G (p.Ile1520Val)
c.2962A>G (p.Ile988Val)
n.5098A>G
 gnomAD v4
6g.52024988T>GCA364431226PKHD1c.4822A>C (p.Ile1608Leu)
c.4180A>C (p.Ile1394Leu)
c.4111A>C (p.Ile1371Leu)
c.4747A>C (p.Ile1583Leu)
c.4558A>C (p.Ile1520Leu)
c.2962A>C (p.Ile988Leu)
n.5098A>C
6g.52024989A>CCA364431228PKHD1c.4821T>G (p.Tyr1607Ter)
c.4179T>G (p.Tyr1393Ter)
c.4110T>G (p.Tyr1370Ter)
c.4746T>G (p.Tyr1582Ter)
c.4557T>G (p.Tyr1519Ter)
c.2961T>G (p.Tyr987Ter)
n.5097T>G
6g.52024989A>GCA450614054PKHD1c.4821T>C (p.Tyr1607=)
c.4179T>C (p.Tyr1393=)
c.4110T>C (p.Tyr1370=)
c.4746T>C (p.Tyr1582=)
c.4557T>C (p.Tyr1519=)
c.2961T>C (p.Tyr987=)
n.5097T>C
6g.52024989A>TCA364431230PKHD1c.4821T>A (p.Tyr1607Ter)
c.4179T>A (p.Tyr1393Ter)
c.4110T>A (p.Tyr1370Ter)
c.4746T>A (p.Tyr1582Ter)
c.4557T>A (p.Tyr1519Ter)
c.2961T>A (p.Tyr987Ter)
n.5097T>A
6g.52024990T>ACA364431235PKHD1c.4820A>T (p.Tyr1607Phe)
c.4178A>T (p.Tyr1393Phe)
c.4109A>T (p.Tyr1370Phe)
c.4745A>T (p.Tyr1582Phe)
c.4556A>T (p.Tyr1519Phe)
c.2960A>T (p.Tyr987Phe)
n.5096A>T
6g.52024990T>CCA3852665PKHD1c.4820A>G (p.Tyr1607Cys)
c.4178A>G (p.Tyr1393Cys)
c.4109A>G (p.Tyr1370Cys)
c.4745A>G (p.Tyr1582Cys)
c.4556A>G (p.Tyr1519Cys)
c.2960A>G (p.Tyr987Cys)
n.5096A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52024990T>GCA364431233PKHD1c.4820A>C (p.Tyr1607Ser)
c.4178A>C (p.Tyr1393Ser)
c.4109A>C (p.Tyr1370Ser)
c.4745A>C (p.Tyr1582Ser)
c.4556A>C (p.Tyr1519Ser)
c.2960A>C (p.Tyr987Ser)
n.5096A>C
6g.52024990T=CA1628647007PKHD1c.4820A= (p.Tyr1607=)
c.4178A= (p.Tyr1393=)
c.4109A= (p.Tyr1370=)
c.4745A= (p.Tyr1582=)
c.4556A= (p.Tyr1519=)
c.2960A= (p.Tyr987=)
n.5096A=
6g.52024991A>CCA364431241PKHD1c.4819T>G (p.Tyr1607Asp)
c.4177T>G (p.Tyr1393Asp)
c.4108T>G (p.Tyr1370Asp)
c.4744T>G (p.Tyr1582Asp)
c.4555T>G (p.Tyr1519Asp)
c.2959T>G (p.Tyr987Asp)
n.5095T>G
6g.52024991A>GCA364431237PKHD1c.4819T>C (p.Tyr1607His)
c.4177T>C (p.Tyr1393His)
c.4108T>C (p.Tyr1370His)
c.4744T>C (p.Tyr1582His)
c.4555T>C (p.Tyr1519His)
c.2959T>C (p.Tyr987His)
n.5095T>C
6g.52024991A>TCA364431239PKHD1c.4819T>A (p.Tyr1607Asn)
c.4177T>A (p.Tyr1393Asn)
c.4108T>A (p.Tyr1370Asn)
c.4744T>A (p.Tyr1582Asn)
c.4555T>A (p.Tyr1519Asn)
c.2959T>A (p.Tyr987Asn)
n.5095T>A
6g.52024992G>ACA450614057PKHD1c.4818C>T (p.Val1606=)
c.4176C>T (p.Val1392=)
c.4107C>T (p.Val1369=)
c.4743C>T (p.Val1581=)
c.4554C>T (p.Val1518=)
c.2958C>T (p.Val986=)
n.5094C>T
 COSMIC COSMIC
6g.52024992G>CCA450614059PKHD1c.4818C>G (p.Val1606=)
c.4176C>G (p.Val1392=)
c.4107C>G (p.Val1369=)
c.4743C>G (p.Val1581=)
c.4554C>G (p.Val1518=)
c.2958C>G (p.Val986=)
n.5094C>G
6g.52024992G>TCA450614061PKHD1c.4818C>A (p.Val1606=)
c.4176C>A (p.Val1392=)
c.4107C>A (p.Val1369=)
c.4743C>A (p.Val1581=)
c.4554C>A (p.Val1518=)
c.2958C>A (p.Val986=)
n.5094C>A
 COSMIC COSMIC
6g.52024993A>CCA364431247PKHD1c.4817T>G (p.Val1606Gly)
c.4175T>G (p.Val1392Gly)
c.4106T>G (p.Val1369Gly)
c.4742T>G (p.Val1581Gly)
c.4553T>G (p.Val1518Gly)
c.2957T>G (p.Val986Gly)
n.5093T>G
6g.52024993A>GCA364431260PKHD1c.4817T>C (p.Val1606Ala)
c.4175T>C (p.Val1392Ala)
c.4106T>C (p.Val1369Ala)
c.4742T>C (p.Val1581Ala)
c.4553T>C (p.Val1518Ala)
c.2957T>C (p.Val986Ala)
n.5093T>C
6g.52024993A>TCA364431261PKHD1c.4817T>A (p.Val1606Asp)
c.4175T>A (p.Val1392Asp)
c.4106T>A (p.Val1369Asp)
c.4742T>A (p.Val1581Asp)
c.4553T>A (p.Val1518Asp)
c.2957T>A (p.Val986Asp)
n.5093T>A
6g.52024994delCA2573140961PKHD1c.4816del (p.Val1606SerfsTer9)
c.4174del (p.Val1392SerfsTer9)
c.4105del (p.Val1369SerfsTer9)
c.4741del (p.Val1581SerfsTer9)
c.4552del (p.Val1518SerfsTer9)
c.2956del (p.Val986SerfsTer9)
n.5092del
 ClinVar dbSNP
6g.52024994C>ACA364431264PKHD1c.4816G>T (p.Val1606Phe)
c.4174G>T (p.Val1392Phe)
c.4105G>T (p.Val1369Phe)
c.4741G>T (p.Val1581Phe)
c.4552G>T (p.Val1518Phe)
c.2956G>T (p.Val986Phe)
n.5092G>T
6g.52024994C=CA1628647013PKHD1c.4816G= (p.Val1606=)
c.4174G= (p.Val1392=)
c.4105G= (p.Val1369=)
c.4741G= (p.Val1581=)
c.4552G= (p.Val1518=)
c.2956G= (p.Val986=)
n.5092G=
6g.52024994C>GCA364431265PKHD1c.4816G>C (p.Val1606Leu)
c.4174G>C (p.Val1392Leu)
c.4105G>C (p.Val1369Leu)
c.4741G>C (p.Val1581Leu)
c.4552G>C (p.Val1518Leu)
c.2956G>C (p.Val986Leu)
n.5092G>C
 dbSNP
6g.52024994C>TCA3852666PKHD1c.4816G>A (p.Val1606Ile)
c.4174G>A (p.Val1392Ile)
c.4105G>A (p.Val1369Ile)
c.4741G>A (p.Val1581Ile)
c.4552G>A (p.Val1518Ile)
c.2956G>A (p.Val986Ile)
n.5092G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52024995T>ACA450614066PKHD1c.4815A>T (p.Ser1605=)
c.4173A>T (p.Ser1391=)
c.4104A>T (p.Ser1368=)
c.4740A>T (p.Ser1580=)
c.4551A>T (p.Ser1517=)
c.2955A>T (p.Ser985=)
n.5091A>T
6g.52024995T>CCA450614065PKHD1c.4815A>G (p.Ser1605=)
c.4173A>G (p.Ser1391=)
c.4104A>G (p.Ser1368=)
c.4740A>G (p.Ser1580=)
c.4551A>G (p.Ser1517=)
c.2955A>G (p.Ser985=)
n.5091A>G
 dbSNP gnomAD v2 gnomAD v4
6g.52024995T>GCA450614064PKHD1c.4815A>C (p.Ser1605=)
c.4173A>C (p.Ser1391=)
c.4104A>C (p.Ser1368=)
c.4740A>C (p.Ser1580=)
c.4551A>C (p.Ser1517=)
c.2955A>C (p.Ser985=)
n.5091A>C
 gnomAD v4
6g.52024995T=CA1628647018PKHD1c.4815A= (p.Ser1605=)
c.4173A= (p.Ser1391=)
c.4104A= (p.Ser1368=)
c.4740A= (p.Ser1580=)
c.4551A= (p.Ser1517=)
c.2955A= (p.Ser985=)
n.5091A=
6g.52024996G>ACA364431280PKHD1c.4814C>T (p.Ser1605Leu)
c.4172C>T (p.Ser1391Leu)
c.4103C>T (p.Ser1368Leu)
c.4739C>T (p.Ser1580Leu)
c.4550C>T (p.Ser1517Leu)
c.2954C>T (p.Ser985Leu)
n.5090C>T
 gnomAD v4

Number of alleles fetched