Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.52024940G>ACA334736PKHD1c.4870C>T (p.Arg1624Trp)
c.4228C>T (p.Arg1410Trp)
c.4159C>T (p.Arg1387Trp)
c.4795C>T (p.Arg1599Trp)
c.4606C>T (p.Arg1536Trp)
c.3010C>T (p.Arg1004Trp)
n.5146C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.52024940G>CCA364430923PKHD1c.4870C>G (p.Arg1624Gly)
c.4228C>G (p.Arg1410Gly)
c.4159C>G (p.Arg1387Gly)
c.4795C>G (p.Arg1599Gly)
c.4606C>G (p.Arg1536Gly)
c.3010C>G (p.Arg1004Gly)
n.5146C>G
 gnomAD v4
6g.52024940G=CA1628646899PKHD1c.4870C= (p.Arg1624=)
c.4228C= (p.Arg1410=)
c.4159C= (p.Arg1387=)
c.4795C= (p.Arg1599=)
c.4606C= (p.Arg1536=)
c.3010C= (p.Arg1004=)
n.5146C=
6g.52024940G>TCA450613967PKHD1c.4870C>A (p.Arg1624=)
c.4228C>A (p.Arg1410=)
c.4159C>A (p.Arg1387=)
c.4795C>A (p.Arg1599=)
c.4606C>A (p.Arg1536=)
c.3010C>A (p.Arg1004=)
n.5146C>A
 ClinVar
6g.52024941G>ACA450613970PKHD1c.4869C>T (p.Ile1623=)
c.4227C>T (p.Ile1409=)
c.4158C>T (p.Ile1386=)
c.4794C>T (p.Ile1598=)
c.4605C>T (p.Ile1535=)
c.3009C>T (p.Ile1003=)
n.5145C>T
6g.52024941G>CCA364430926PKHD1c.4869C>G (p.Ile1623Met)
c.4227C>G (p.Ile1409Met)
c.4158C>G (p.Ile1386Met)
c.4794C>G (p.Ile1598Met)
c.4605C>G (p.Ile1535Met)
c.3009C>G (p.Ile1003Met)
n.5145C>G
6g.52024941G>TCA450613969PKHD1c.4869C>A (p.Ile1623=)
c.4227C>A (p.Ile1409=)
c.4158C>A (p.Ile1386=)
c.4794C>A (p.Ile1598=)
c.4605C>A (p.Ile1535=)
c.3009C>A (p.Ile1003=)
n.5145C>A
6g.52024942A=CA1628646903PKHD1c.4868T= (p.Ile1623=)
c.4226T= (p.Ile1409=)
c.4157T= (p.Ile1386=)
c.4793T= (p.Ile1598=)
c.4604T= (p.Ile1535=)
c.3008T= (p.Ile1003=)
n.5144T=
6g.52024942A>CCA138946350PKHD1c.4868T>G (p.Ile1623Ser)
c.4226T>G (p.Ile1409Ser)
c.4157T>G (p.Ile1386Ser)
c.4793T>G (p.Ile1598Ser)
c.4604T>G (p.Ile1535Ser)
c.3008T>G (p.Ile1003Ser)
n.5144T>G
 dbSNP
6g.52024942A>GCA364430931PKHD1c.4868T>C (p.Ile1623Thr)
c.4226T>C (p.Ile1409Thr)
c.4157T>C (p.Ile1386Thr)
c.4793T>C (p.Ile1598Thr)
c.4604T>C (p.Ile1535Thr)
c.3008T>C (p.Ile1003Thr)
n.5144T>C
6g.52024942A>TCA364430933PKHD1c.4868T>A (p.Ile1623Asn)
c.4226T>A (p.Ile1409Asn)
c.4157T>A (p.Ile1386Asn)
c.4793T>A (p.Ile1598Asn)
c.4604T>A (p.Ile1535Asn)
c.3008T>A (p.Ile1003Asn)
n.5144T>A
6g.52024943T>ACA364430938PKHD1c.4867A>T (p.Ile1623Phe)
c.4225A>T (p.Ile1409Phe)
c.4156A>T (p.Ile1386Phe)
c.4792A>T (p.Ile1598Phe)
c.4603A>T (p.Ile1535Phe)
c.3007A>T (p.Ile1003Phe)
n.5143A>T
6g.52024943T>CCA364430941PKHD1c.4867A>G (p.Ile1623Val)
c.4225A>G (p.Ile1409Val)
c.4156A>G (p.Ile1386Val)
c.4792A>G (p.Ile1598Val)
c.4603A>G (p.Ile1535Val)
c.3007A>G (p.Ile1003Val)
n.5143A>G
6g.52024943T>GCA364430939PKHD1c.4867A>C (p.Ile1623Leu)
c.4225A>C (p.Ile1409Leu)
c.4156A>C (p.Ile1386Leu)
c.4792A>C (p.Ile1598Leu)
c.4603A>C (p.Ile1535Leu)
c.3007A>C (p.Ile1003Leu)
n.5143A>C
 dbSNP gnomAD v4
6g.52024944G>ACA450613971PKHD1c.4866C>T (p.Leu1622=)
c.4224C>T (p.Leu1408=)
c.4155C>T (p.Leu1385=)
c.4791C>T (p.Leu1597=)
c.4602C>T (p.Leu1534=)
c.3006C>T (p.Leu1002=)
n.5142C>T
 gnomAD v4
6g.52024944G>CCA450613972PKHD1c.4866C>G (p.Leu1622=)
c.4224C>G (p.Leu1408=)
c.4155C>G (p.Leu1385=)
c.4791C>G (p.Leu1597=)
c.4602C>G (p.Leu1534=)
c.3006C>G (p.Leu1002=)
n.5142C>G
6g.52024944G=CA1628646907PKHD1c.4866C= (p.Leu1622=)
c.4224C= (p.Leu1408=)
c.4155C= (p.Leu1385=)
c.4791C= (p.Leu1597=)
c.4602C= (p.Leu1534=)
c.3006C= (p.Leu1002=)
n.5142C=
6g.52024944G>TCA3852651PKHD1c.4866C>A (p.Leu1622=)
c.4224C>A (p.Leu1408=)
c.4155C>A (p.Leu1385=)
c.4791C>A (p.Leu1597=)
c.4602C>A (p.Leu1534=)
c.3006C>A (p.Leu1002=)
n.5142C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024945A>CCA364430945PKHD1c.4865T>G (p.Leu1622Arg)
c.4223T>G (p.Leu1408Arg)
c.4154T>G (p.Leu1385Arg)
c.4790T>G (p.Leu1597Arg)
c.4601T>G (p.Leu1534Arg)
c.3005T>G (p.Leu1002Arg)
n.5141T>G
6g.52024945A>GCA364430947PKHD1c.4865T>C (p.Leu1622Pro)
c.4223T>C (p.Leu1408Pro)
c.4154T>C (p.Leu1385Pro)
c.4790T>C (p.Leu1597Pro)
c.4601T>C (p.Leu1534Pro)
c.3005T>C (p.Leu1002Pro)
n.5141T>C
6g.52024945A>TCA364430953PKHD1c.4865T>A (p.Leu1622His)
c.4223T>A (p.Leu1408His)
c.4154T>A (p.Leu1385His)
c.4790T>A (p.Leu1597His)
c.4601T>A (p.Leu1534His)
c.3005T>A (p.Leu1002His)
n.5141T>A
6g.52024946G>ACA3852652PKHD1c.4864C>T (p.Leu1622Phe)
c.4222C>T (p.Leu1408Phe)
c.4153C>T (p.Leu1385Phe)
c.4789C>T (p.Leu1597Phe)
c.4600C>T (p.Leu1534Phe)
c.3004C>T (p.Leu1002Phe)
n.5140C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52024946G>CCA364430957PKHD1c.4864C>G (p.Leu1622Val)
c.4222C>G (p.Leu1408Val)
c.4153C>G (p.Leu1385Val)
c.4789C>G (p.Leu1597Val)
c.4600C>G (p.Leu1534Val)
c.3004C>G (p.Leu1002Val)
n.5140C>G
6g.52024946G=CA1628646911PKHD1c.4864C= (p.Leu1622=)
c.4222C= (p.Leu1408=)
c.4153C= (p.Leu1385=)
c.4789C= (p.Leu1597=)
c.4600C= (p.Leu1534=)
c.3004C= (p.Leu1002=)
n.5140C=
6g.52024946G>TCA364430958PKHD1c.4864C>A (p.Leu1622Ile)
c.4222C>A (p.Leu1408Ile)
c.4153C>A (p.Leu1385Ile)
c.4789C>A (p.Leu1597Ile)
c.4600C>A (p.Leu1534Ile)
c.3004C>A (p.Leu1002Ile)
n.5140C>A
6g.52024947delCA2679084934PKHD1c.4863del (p.Glu1621AspfsTer18)
c.4221del (p.Glu1407AspfsTer18)
c.4152del (p.Glu1384AspfsTer18)
c.4788del (p.Glu1596AspfsTer18)
c.4599del (p.Glu1533AspfsTer18)
c.3003del (p.Glu1001AspfsTer18)
n.5139del
 gnomAD v4
6g.52024947C>ACA364430961PKHD1c.4863G>T (p.Glu1621Asp)
c.4221G>T (p.Glu1407Asp)
c.4152G>T (p.Glu1384Asp)
c.4788G>T (p.Glu1596Asp)
c.4599G>T (p.Glu1533Asp)
c.3003G>T (p.Glu1001Asp)
n.5139G>T
6g.52024947C>GCA364430963PKHD1c.4863G>C (p.Glu1621Asp)
c.4221G>C (p.Glu1407Asp)
c.4152G>C (p.Glu1384Asp)
c.4788G>C (p.Glu1596Asp)
c.4599G>C (p.Glu1533Asp)
c.3003G>C (p.Glu1001Asp)
n.5139G>C
6g.52024947C>TCA450613974PKHD1c.4863G>A (p.Glu1621=)
c.4221G>A (p.Glu1407=)
c.4152G>A (p.Glu1384=)
c.4788G>A (p.Glu1596=)
c.4599G>A (p.Glu1533=)
c.3003G>A (p.Glu1001=)
n.5139G>A
6g.52024948T>ACA364430964PKHD1c.4862A>T (p.Glu1621Val)
c.4220A>T (p.Glu1407Val)
c.4151A>T (p.Glu1384Val)
c.4787A>T (p.Glu1596Val)
c.4598A>T (p.Glu1533Val)
c.3002A>T (p.Glu1001Val)
n.5138A>T
6g.52024948T>CCA364430967PKHD1c.4862A>G (p.Glu1621Gly)
c.4220A>G (p.Glu1407Gly)
c.4151A>G (p.Glu1384Gly)
c.4787A>G (p.Glu1596Gly)
c.4598A>G (p.Glu1533Gly)
c.3002A>G (p.Glu1001Gly)
n.5138A>G
 gnomAD v4
6g.52024948T>GCA364430969PKHD1c.4862A>C (p.Glu1621Ala)
c.4220A>C (p.Glu1407Ala)
c.4151A>C (p.Glu1384Ala)
c.4787A>C (p.Glu1596Ala)
c.4598A>C (p.Glu1533Ala)
c.3002A>C (p.Glu1001Ala)
n.5138A>C
6g.52024949C>ACA364430971PKHD1c.4861G>T (p.Glu1621Ter)
c.4219G>T (p.Glu1407Ter)
c.4150G>T (p.Glu1384Ter)
c.4786G>T (p.Glu1596Ter)
c.4597G>T (p.Glu1533Ter)
c.3001G>T (p.Glu1001Ter)
n.5137G>T
6g.52024949C>GCA364430976PKHD1c.4861G>C (p.Glu1621Gln)
c.4219G>C (p.Glu1407Gln)
c.4150G>C (p.Glu1384Gln)
c.4786G>C (p.Glu1596Gln)
c.4597G>C (p.Glu1533Gln)
c.3001G>C (p.Glu1001Gln)
n.5137G>C
6g.52024949C>TCA364430973PKHD1c.4861G>A (p.Glu1621Lys)
c.4219G>A (p.Glu1407Lys)
c.4150G>A (p.Glu1384Lys)
c.4786G>A (p.Glu1596Lys)
c.4597G>A (p.Glu1533Lys)
c.3001G>A (p.Glu1001Lys)
n.5137G>A
6g.52024950A>CCA450613980PKHD1c.4860T>G (p.Ala1620=)
c.4218T>G (p.Ala1406=)
c.4149T>G (p.Ala1383=)
c.4785T>G (p.Ala1595=)
c.4596T>G (p.Ala1532=)
c.3000T>G (p.Ala1000=)
n.5136T>G
6g.52024950A>GCA450613981PKHD1c.4860T>C (p.Ala1620=)
c.4218T>C (p.Ala1406=)
c.4149T>C (p.Ala1383=)
c.4785T>C (p.Ala1595=)
c.4596T>C (p.Ala1532=)
c.3000T>C (p.Ala1000=)
n.5136T>C
6g.52024950A>TCA450613982PKHD1c.4860T>A (p.Ala1620=)
c.4218T>A (p.Ala1406=)
c.4149T>A (p.Ala1383=)
c.4785T>A (p.Ala1595=)
c.4596T>A (p.Ala1532=)
c.3000T>A (p.Ala1000=)
n.5136T>A
6g.52024951G>ACA364430979PKHD1c.4859C>T (p.Ala1620Val)
c.4217C>T (p.Ala1406Val)
c.4148C>T (p.Ala1383Val)
c.4784C>T (p.Ala1595Val)
c.4595C>T (p.Ala1532Val)
c.2999C>T (p.Ala1000Val)
n.5135C>T
6g.52024951G>CCA364430983PKHD1c.4859C>G (p.Ala1620Gly)
c.4217C>G (p.Ala1406Gly)
c.4148C>G (p.Ala1383Gly)
c.4784C>G (p.Ala1595Gly)
c.4595C>G (p.Ala1532Gly)
c.2999C>G (p.Ala1000Gly)
n.5135C>G
6g.52024951G>TCA364430982PKHD1c.4859C>A (p.Ala1620Asp)
c.4217C>A (p.Ala1406Asp)
c.4148C>A (p.Ala1383Asp)
c.4784C>A (p.Ala1595Asp)
c.4595C>A (p.Ala1532Asp)
c.2999C>A (p.Ala1000Asp)
n.5135C>A
 gnomAD v4 COSMIC COSMIC
6g.52024952C>ACA364430985PKHD1c.4858G>T (p.Ala1620Ser)
c.4216G>T (p.Ala1406Ser)
c.4147G>T (p.Ala1383Ser)
c.4783G>T (p.Ala1595Ser)
c.4594G>T (p.Ala1532Ser)
c.2998G>T (p.Ala1000Ser)
n.5134G>T
6g.52024952C>GCA364430986PKHD1c.4858G>C (p.Ala1620Pro)
c.4216G>C (p.Ala1406Pro)
c.4147G>C (p.Ala1383Pro)
c.4783G>C (p.Ala1595Pro)
c.4594G>C (p.Ala1532Pro)
c.2998G>C (p.Ala1000Pro)
n.5134G>C
6g.52024952C>TCA364430987PKHD1c.4858G>A (p.Ala1620Thr)
c.4216G>A (p.Ala1406Thr)
c.4147G>A (p.Ala1383Thr)
c.4783G>A (p.Ala1595Thr)
c.4594G>A (p.Ala1532Thr)
c.2998G>A (p.Ala1000Thr)
n.5134G>A
6g.52024953A>CCA450613985PKHD1c.4857T>G (p.Gly1619=)
c.4215T>G (p.Gly1405=)
c.4146T>G (p.Gly1382=)
c.4782T>G (p.Gly1594=)
c.4593T>G (p.Gly1531=)
c.2997T>G (p.Gly999=)
n.5133T>G
6g.52024953A>GCA450613987PKHD1c.4857T>C (p.Gly1619=)
c.4215T>C (p.Gly1405=)
c.4146T>C (p.Gly1382=)
c.4782T>C (p.Gly1594=)
c.4593T>C (p.Gly1531=)
c.2997T>C (p.Gly999=)
n.5133T>C
6g.52024953A>TCA450613989PKHD1c.4857T>A (p.Gly1619=)
c.4215T>A (p.Gly1405=)
c.4146T>A (p.Gly1382=)
c.4782T>A (p.Gly1594=)
c.4593T>A (p.Gly1531=)
c.2997T>A (p.Gly999=)
n.5133T>A
6g.52024954C>ACA364430990PKHD1c.4856G>T (p.Gly1619Val)
c.4214G>T (p.Gly1405Val)
c.4145G>T (p.Gly1382Val)
c.4781G>T (p.Gly1594Val)
c.4592G>T (p.Gly1531Val)
c.2996G>T (p.Gly999Val)
n.5132G>T
6g.52024954C>GCA364430993PKHD1c.4856G>C (p.Gly1619Ala)
c.4214G>C (p.Gly1405Ala)
c.4145G>C (p.Gly1382Ala)
c.4781G>C (p.Gly1594Ala)
c.4592G>C (p.Gly1531Ala)
c.2996G>C (p.Gly999Ala)
n.5132G>C
6g.52024954C>TCA364430995PKHD1c.4856G>A (p.Gly1619Asp)
c.4214G>A (p.Gly1405Asp)
c.4145G>A (p.Gly1382Asp)
c.4781G>A (p.Gly1594Asp)
c.4592G>A (p.Gly1531Asp)
c.2996G>A (p.Gly999Asp)
n.5132G>A

Number of alleles fetched