Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.52024688A=CA1628646455PKHD1c.5122T= (p.Ser1708=)
c.4480T= (p.Ser1494=)
c.4411T= (p.Ser1471=)
c.5047T= (p.Ser1683=)
c.4858T= (p.Ser1620=)
c.3262T= (p.Ser1088=)
n.5398T=
6g.52024688A>CCA364428509PKHD1c.5122T>G (p.Ser1708Ala)
c.4480T>G (p.Ser1494Ala)
c.4411T>G (p.Ser1471Ala)
c.5047T>G (p.Ser1683Ala)
c.4858T>G (p.Ser1620Ala)
c.3262T>G (p.Ser1088Ala)
n.5398T>G
6g.52024688A>GCA364428512PKHD1c.5122T>C (p.Ser1708Pro)
c.4480T>C (p.Ser1494Pro)
c.4411T>C (p.Ser1471Pro)
c.5047T>C (p.Ser1683Pro)
c.4858T>C (p.Ser1620Pro)
c.3262T>C (p.Ser1088Pro)
n.5398T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52024688A>TCA364428515PKHD1c.5122T>A (p.Ser1708Thr)
c.4480T>A (p.Ser1494Thr)
c.4411T>A (p.Ser1471Thr)
c.5047T>A (p.Ser1683Thr)
c.4858T>A (p.Ser1620Thr)
c.3262T>A (p.Ser1088Thr)
n.5398T>A
6g.52024689A>CCA450418743PKHD1c.5121T>G (p.Pro1707=)
c.4479T>G (p.Pro1493=)
c.4410T>G (p.Pro1470=)
c.5046T>G (p.Pro1682=)
c.4857T>G (p.Pro1619=)
c.3261T>G (p.Pro1087=)
n.5397T>G
 gnomAD v4
6g.52024689A>GCA450418745PKHD1c.5121T>C (p.Pro1707=)
c.4479T>C (p.Pro1493=)
c.4410T>C (p.Pro1470=)
c.5046T>C (p.Pro1682=)
c.4857T>C (p.Pro1619=)
c.3261T>C (p.Pro1087=)
n.5397T>C
6g.52024689A>TCA450418747PKHD1c.5121T>A (p.Pro1707=)
c.4479T>A (p.Pro1493=)
c.4410T>A (p.Pro1470=)
c.5046T>A (p.Pro1682=)
c.4857T>A (p.Pro1619=)
c.3261T>A (p.Pro1087=)
n.5397T>A
6g.52024690G>ACA364428519PKHD1c.5120C>T (p.Pro1707Leu)
c.4478C>T (p.Pro1493Leu)
c.4409C>T (p.Pro1470Leu)
c.5045C>T (p.Pro1682Leu)
c.4856C>T (p.Pro1619Leu)
c.3260C>T (p.Pro1087Leu)
n.5396C>T
 dbSNP gnomAD v4
6g.52024690G>CCA364428522PKHD1c.5120C>G (p.Pro1707Arg)
c.4478C>G (p.Pro1493Arg)
c.4409C>G (p.Pro1470Arg)
c.5045C>G (p.Pro1682Arg)
c.4856C>G (p.Pro1619Arg)
c.3260C>G (p.Pro1087Arg)
n.5396C>G
6g.52024690G=CA1628646459PKHD1c.5120C= (p.Pro1707=)
c.4478C= (p.Pro1493=)
c.4409C= (p.Pro1470=)
c.5045C= (p.Pro1682=)
c.4856C= (p.Pro1619=)
c.3260C= (p.Pro1087=)
n.5396C=
6g.52024690G>TCA364428523PKHD1c.5120C>A (p.Pro1707His)
c.4478C>A (p.Pro1493His)
c.4409C>A (p.Pro1470His)
c.5045C>A (p.Pro1682His)
c.4856C>A (p.Pro1619His)
c.3260C>A (p.Pro1087His)
n.5396C>A
6g.52024691G>ACA364428527PKHD1c.5119C>T (p.Pro1707Ser)
c.4477C>T (p.Pro1493Ser)
c.4408C>T (p.Pro1470Ser)
c.5044C>T (p.Pro1682Ser)
c.4855C>T (p.Pro1619Ser)
c.3259C>T (p.Pro1087Ser)
n.5395C>T
 COSMIC COSMIC
6g.52024691G>CCA364428533PKHD1c.5119C>G (p.Pro1707Ala)
c.4477C>G (p.Pro1493Ala)
c.4408C>G (p.Pro1470Ala)
c.5044C>G (p.Pro1682Ala)
c.4855C>G (p.Pro1619Ala)
c.3259C>G (p.Pro1087Ala)
n.5395C>G
6g.52024691G>TCA364428530PKHD1c.5119C>A (p.Pro1707Thr)
c.4477C>A (p.Pro1493Thr)
c.4408C>A (p.Pro1470Thr)
c.5044C>A (p.Pro1682Thr)
c.4855C>A (p.Pro1619Thr)
c.3259C>A (p.Pro1087Thr)
n.5395C>A
6g.52024692G>ACA450418756PKHD1c.5118C>T (p.Val1706=)
c.4476C>T (p.Val1492=)
c.4407C>T (p.Val1469=)
c.5043C>T (p.Val1681=)
c.4854C>T (p.Val1618=)
c.3258C>T (p.Val1086=)
n.5394C>T
 ClinVar gnomAD v4
6g.52024692G>CCA450418757PKHD1c.5118C>G (p.Val1706=)
c.4476C>G (p.Val1492=)
c.4407C>G (p.Val1469=)
c.5043C>G (p.Val1681=)
c.4854C>G (p.Val1618=)
c.3258C>G (p.Val1086=)
n.5394C>G
6g.52024692G>TCA450418759PKHD1c.5118C>A (p.Val1706=)
c.4476C>A (p.Val1492=)
c.4407C>A (p.Val1469=)
c.5043C>A (p.Val1681=)
c.4854C>A (p.Val1618=)
c.3258C>A (p.Val1086=)
n.5394C>A
6g.52024693delCA2697553414PKHD1c.5117del (p.Val1706AlafsTer?)
c.4475del (p.Val1492AlafsTer?)
c.4406del (p.Val1469AlafsTer?)
c.5042del (p.Val1681AlafsTer?)
c.4853del (p.Val1618AlafsTer?)
c.3257del (p.Val1086AlafsTer?)
n.5393del
 ClinVar
6g.52024693A=CA1628646462PKHD1c.5117T= (p.Val1706=)
c.4475T= (p.Val1492=)
c.4406T= (p.Val1469=)
c.5042T= (p.Val1681=)
c.4853T= (p.Val1618=)
c.3257T= (p.Val1086=)
n.5393T=
6g.52024693A>CCA364428536PKHD1c.5117T>G (p.Val1706Gly)
c.4475T>G (p.Val1492Gly)
c.4406T>G (p.Val1469Gly)
c.5042T>G (p.Val1681Gly)
c.4853T>G (p.Val1618Gly)
c.3257T>G (p.Val1086Gly)
n.5393T>G
6g.52024693A>GCA364428539PKHD1c.5117T>C (p.Val1706Ala)
c.4475T>C (p.Val1492Ala)
c.4406T>C (p.Val1469Ala)
c.5042T>C (p.Val1681Ala)
c.4853T>C (p.Val1618Ala)
c.3257T>C (p.Val1086Ala)
n.5393T>C
6g.52024693A>TCA3852611PKHD1c.5117T>A (p.Val1706Asp)
c.4475T>A (p.Val1492Asp)
c.4406T>A (p.Val1469Asp)
c.5042T>A (p.Val1681Asp)
c.4853T>A (p.Val1618Asp)
c.3257T>A (p.Val1086Asp)
n.5393T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52024693_52024694insAATAAGAAATGCA2580075517PKHD1c.5116_5117insCATTTCTTATT (p.Val1706AlafsTer?)
c.4474_4475insCATTTCTTATT (p.Val1492AlafsTer?)
c.4405_4406insCATTTCTTATT (p.Val1469AlafsTer?)
c.5041_5042insCATTTCTTATT (p.Val1681AlafsTer?)
c.4852_4853insCATTTCTTATT (p.Val1618AlafsTer?)
c.3256_3257insCATTTCTTATT (p.Val1086AlafsTer?)
n.5392_5393insCATTTCTTATT
 ClinVar
6g.52024694C>ACA364428544PKHD1c.5116G>T (p.Val1706Phe)
c.4474G>T (p.Val1492Phe)
c.4405G>T (p.Val1469Phe)
c.5041G>T (p.Val1681Phe)
c.4852G>T (p.Val1618Phe)
c.3256G>T (p.Val1086Phe)
n.5392G>T
 gnomAD v4
6g.52024694C>GCA364428547PKHD1c.5116G>C (p.Val1706Leu)
c.4474G>C (p.Val1492Leu)
c.4405G>C (p.Val1469Leu)
c.5041G>C (p.Val1681Leu)
c.4852G>C (p.Val1618Leu)
c.3256G>C (p.Val1086Leu)
n.5392G>C
6g.52024694C>TCA364428550PKHD1c.5116G>A (p.Val1706Ile)
c.4474G>A (p.Val1492Ile)
c.4405G>A (p.Val1469Ile)
c.5041G>A (p.Val1681Ile)
c.4852G>A (p.Val1618Ile)
c.3256G>A (p.Val1086Ile)
n.5392G>A
 gnomAD v4
6g.52024694_52024695insTGTCTCTTATACA2580075518PKHD1c.5115_5116insTATAAGAGACA (p.Val1706TyrfsTer?)
c.4473_4474insTATAAGAGACA (p.Val1492TyrfsTer?)
c.4404_4405insTATAAGAGACA (p.Val1469TyrfsTer?)
c.5040_5041insTATAAGAGACA (p.Val1681TyrfsTer?)
c.4851_4852insTATAAGAGACA (p.Val1618TyrfsTer?)
c.3255_3256insTATAAGAGACA (p.Val1086TyrfsTer?)
n.5391_5392insTATAAGAGACA
 ClinVar
6g.52024695C>ACA450418766PKHD1c.5115G>T (p.Val1705=)
c.4473G>T (p.Val1491=)
c.4404G>T (p.Val1468=)
c.5040G>T (p.Val1680=)
c.4851G>T (p.Val1617=)
c.3255G>T (p.Val1085=)
n.5391G>T
6g.52024695C>GCA450418767PKHD1c.5115G>C (p.Val1705=)
c.4473G>C (p.Val1491=)
c.4404G>C (p.Val1468=)
c.5040G>C (p.Val1680=)
c.4851G>C (p.Val1617=)
c.3255G>C (p.Val1085=)
n.5391G>C
 gnomAD v4
6g.52024695C>TCA450418769PKHD1c.5115G>A (p.Val1705=)
c.4473G>A (p.Val1491=)
c.4404G>A (p.Val1468=)
c.5040G>A (p.Val1680=)
c.4851G>A (p.Val1617=)
c.3255G>A (p.Val1085=)
n.5391G>A
 COSMIC COSMIC
6g.52024696A>CCA364428553PKHD1c.5114T>G (p.Val1705Gly)
c.4472T>G (p.Val1491Gly)
c.4403T>G (p.Val1468Gly)
c.5039T>G (p.Val1680Gly)
c.4850T>G (p.Val1617Gly)
c.3254T>G (p.Val1085Gly)
n.5390T>G
6g.52024696A>GCA364428556PKHD1c.5114T>C (p.Val1705Ala)
c.4472T>C (p.Val1491Ala)
c.4403T>C (p.Val1468Ala)
c.5039T>C (p.Val1680Ala)
c.4850T>C (p.Val1617Ala)
c.3254T>C (p.Val1085Ala)
n.5390T>C
6g.52024696A>TCA364428557PKHD1c.5114T>A (p.Val1705Glu)
c.4472T>A (p.Val1491Glu)
c.4403T>A (p.Val1468Glu)
c.5039T>A (p.Val1680Glu)
c.4850T>A (p.Val1617Glu)
c.3254T>A (p.Val1085Glu)
n.5390T>A
6g.52024697C>ACA3852613PKHD1c.5113G>T (p.Val1705Leu)
c.4471G>T (p.Val1491Leu)
c.4402G>T (p.Val1468Leu)
c.5038G>T (p.Val1680Leu)
c.4849G>T (p.Val1617Leu)
c.3253G>T (p.Val1085Leu)
n.5389G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024697C=CA1628646465PKHD1c.5113G= (p.Val1705=)
c.4471G= (p.Val1491=)
c.4402G= (p.Val1468=)
c.5038G= (p.Val1680=)
c.4849G= (p.Val1617=)
c.3253G= (p.Val1085=)
n.5389G=
6g.52024697C>GCA364428562PKHD1c.5113G>C (p.Val1705Leu)
c.4471G>C (p.Val1491Leu)
c.4402G>C (p.Val1468Leu)
c.5038G>C (p.Val1680Leu)
c.4849G>C (p.Val1617Leu)
c.3253G>C (p.Val1085Leu)
n.5389G>C
6g.52024697C>TCA3852612PKHD1c.5113G>A (p.Val1705Met)
c.4471G>A (p.Val1491Met)
c.4402G>A (p.Val1468Met)
c.5038G>A (p.Val1680Met)
c.4849G>A (p.Val1617Met)
c.3253G>A (p.Val1085Met)
n.5389G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024698G>ACA3852614PKHD1c.5112C>T (p.Cys1704=)
c.4470C>T (p.Cys1490=)
c.4401C>T (p.Cys1467=)
c.5037C>T (p.Cys1679=)
c.4848C>T (p.Cys1616=)
c.3252C>T (p.Cys1084=)
n.5388C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52024698G>CCA364428566PKHD1c.5112C>G (p.Cys1704Trp)
c.4470C>G (p.Cys1490Trp)
c.4401C>G (p.Cys1467Trp)
c.5037C>G (p.Cys1679Trp)
c.4848C>G (p.Cys1616Trp)
c.3252C>G (p.Cys1084Trp)
n.5388C>G
6g.52024698G=CA1628646472PKHD1c.5112C= (p.Cys1704=)
c.4470C= (p.Cys1490=)
c.4401C= (p.Cys1467=)
c.5037C= (p.Cys1679=)
c.4848C= (p.Cys1616=)
c.3252C= (p.Cys1084=)
n.5388C=
6g.52024698G>TCA364428569PKHD1c.5112C>A (p.Cys1704Ter)
c.4470C>A (p.Cys1490Ter)
c.4401C>A (p.Cys1467Ter)
c.5037C>A (p.Cys1679Ter)
c.4848C>A (p.Cys1616Ter)
c.3252C>A (p.Cys1084Ter)
n.5388C>A
6g.52024699C>ACA364428574PKHD1c.5111G>T (p.Cys1704Phe)
c.4469G>T (p.Cys1490Phe)
c.4400G>T (p.Cys1467Phe)
c.5036G>T (p.Cys1679Phe)
c.4847G>T (p.Cys1616Phe)
c.3251G>T (p.Cys1084Phe)
n.5387G>T
6g.52024699C>GCA364428576PKHD1c.5111G>C (p.Cys1704Ser)
c.4469G>C (p.Cys1490Ser)
c.4400G>C (p.Cys1467Ser)
c.5036G>C (p.Cys1679Ser)
c.4847G>C (p.Cys1616Ser)
c.3251G>C (p.Cys1084Ser)
n.5387G>C
6g.52024699C>TCA364428580PKHD1c.5111G>A (p.Cys1704Tyr)
c.4469G>A (p.Cys1490Tyr)
c.4400G>A (p.Cys1467Tyr)
c.5036G>A (p.Cys1679Tyr)
c.4847G>A (p.Cys1616Tyr)
c.3251G>A (p.Cys1084Tyr)
n.5387G>A
6g.52024700A=CA1628646477PKHD1c.5110T= (p.Cys1704=)
c.4468T= (p.Cys1490=)
c.4399T= (p.Cys1467=)
c.5035T= (p.Cys1679=)
c.4846T= (p.Cys1616=)
c.3250T= (p.Cys1084=)
n.5386T=
6g.52024700A>CCA364428583PKHD1c.5110T>G (p.Cys1704Gly)
c.4468T>G (p.Cys1490Gly)
c.4399T>G (p.Cys1467Gly)
c.5035T>G (p.Cys1679Gly)
c.4846T>G (p.Cys1616Gly)
c.3250T>G (p.Cys1084Gly)
n.5386T>G
6g.52024700A>GCA3852615PKHD1c.5110T>C (p.Cys1704Arg)
c.4468T>C (p.Cys1490Arg)
c.4399T>C (p.Cys1467Arg)
c.5035T>C (p.Cys1679Arg)
c.4846T>C (p.Cys1616Arg)
c.3250T>C (p.Cys1084Arg)
n.5386T>C
 dbSNP ExAC gnomAD v2
6g.52024700A>TCA364428587PKHD1c.5110T>A (p.Cys1704Ser)
c.4468T>A (p.Cys1490Ser)
c.4399T>A (p.Cys1467Ser)
c.5035T>A (p.Cys1679Ser)
c.4846T>A (p.Cys1616Ser)
c.3250T>A (p.Cys1084Ser)
n.5386T>A
6g.52024701C>ACA364428590PKHD1c.5109G>T (p.Gln1703His)
c.4467G>T (p.Gln1489His)
c.4398G>T (p.Gln1466His)
c.5034G>T (p.Gln1678His)
c.4845G>T (p.Gln1615His)
c.3249G>T (p.Gln1083His)
n.5385G>T
6g.52024701C>GCA364428592PKHD1c.5109G>C (p.Gln1703His)
c.4467G>C (p.Gln1489His)
c.4398G>C (p.Gln1466His)
c.5034G>C (p.Gln1678His)
c.4845G>C (p.Gln1615His)
c.3249G>C (p.Gln1083His)
n.5385G>C

Number of alleles fetched