Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.52025671A=CA1628648302PKHD1c.4139T= (p.Val1380=)
c.4101+38T= (n.4101+38T=)
c.3428T= (p.Val1143=)
c.4064T= (p.Val1355=)
c.3875T= (p.Val1292=)
c.2279T= (p.Val760=)
n.4415T=
6g.52025671A>CCA364435636PKHD1c.4139T>G (p.Val1380Gly)
c.4101+38T>G (n.4101+38T>G)
c.3428T>G (p.Val1143Gly)
c.4064T>G (p.Val1355Gly)
c.3875T>G (p.Val1292Gly)
c.2279T>G (p.Val760Gly)
n.4415T>G
6g.52025671A>GCA3852771PKHD1c.4139T>C (p.Val1380Ala)
c.4101+38T>C (n.4101+38T>C)
c.3428T>C (p.Val1143Ala)
c.4064T>C (p.Val1355Ala)
c.3875T>C (p.Val1292Ala)
c.2279T>C (p.Val760Ala)
n.4415T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52025671A>TCA364435642PKHD1c.4139T>A (p.Val1380Glu)
c.4101+38T>A (n.4101+38T>A)
c.3428T>A (p.Val1143Glu)
c.4064T>A (p.Val1355Glu)
c.3875T>A (p.Val1292Glu)
c.2279T>A (p.Val760Glu)
n.4415T>A
6g.52025672C>ACA364435644PKHD1c.4138G>T (p.Val1380Leu)
c.4101+37G>T (n.4101+37G>T)
c.3427G>T (p.Val1143Leu)
c.4063G>T (p.Val1355Leu)
c.3874G>T (p.Val1292Leu)
c.2278G>T (p.Val760Leu)
n.4414G>T
6g.52025672C=CA1628648305PKHD1c.4138G= (p.Val1380=)
c.4101+37G= (n.4101+37G=)
c.3427G= (p.Val1143=)
c.4063G= (p.Val1355=)
c.3874G= (p.Val1292=)
c.2278G= (p.Val760=)
n.4414G=
6g.52025672C>GCA364435645PKHD1c.4138G>C (p.Val1380Leu)
c.4101+37G>C (n.4101+37G>C)
c.3427G>C (p.Val1143Leu)
c.4063G>C (p.Val1355Leu)
c.3874G>C (p.Val1292Leu)
c.2278G>C (p.Val760Leu)
n.4414G>C
 dbSNP
6g.52025672C>TCA364435646PKHD1c.4138G>A (p.Val1380Met)
c.4101+37G>A (n.4101+37G>A)
c.3427G>A (p.Val1143Met)
c.4063G>A (p.Val1355Met)
c.3874G>A (p.Val1292Met)
c.2278G>A (p.Val760Met)
n.4414G>A
6g.52025673A>CCA450614655PKHD1c.4137T>G (p.Ser1379=)
c.4101+36T>G (n.4101+36T>G)
c.3426T>G (p.Ser1142=)
c.4062T>G (p.Ser1354=)
c.3873T>G (p.Ser1291=)
c.2277T>G (p.Ser759=)
n.4413T>G
6g.52025673A>GCA450614656PKHD1c.4137T>C (p.Ser1379=)
c.4101+36T>C (n.4101+36T>C)
c.3426T>C (p.Ser1142=)
c.4062T>C (p.Ser1354=)
c.3873T>C (p.Ser1291=)
c.2277T>C (p.Ser759=)
n.4413T>C
6g.52025673A>TCA450614658PKHD1c.4137T>A (p.Ser1379=)
c.4101+36T>A (n.4101+36T>A)
c.3426T>A (p.Ser1142=)
c.4062T>A (p.Ser1354=)
c.3873T>A (p.Ser1291=)
c.2277T>A (p.Ser759=)
n.4413T>A
6g.52025674G>ACA364435650PKHD1c.4136C>T (p.Ser1379Phe)
c.4101+35C>T (n.4101+35C>T)
c.3425C>T (p.Ser1142Phe)
c.4061C>T (p.Ser1354Phe)
c.3872C>T (p.Ser1291Phe)
c.2276C>T (p.Ser759Phe)
n.4412C>T
 gnomAD v4
6g.52025674G>CCA364435657PKHD1c.4136C>G (p.Ser1379Cys)
c.4101+35C>G (n.4101+35C>G)
c.3425C>G (p.Ser1142Cys)
c.4061C>G (p.Ser1354Cys)
c.3872C>G (p.Ser1291Cys)
c.2276C>G (p.Ser759Cys)
n.4412C>G
 dbSNP gnomAD v3 gnomAD v4
6g.52025674G=CA1628648307PKHD1c.4136C= (p.Ser1379=)
c.4101+35C= (n.4101+35C=)
c.3425C= (p.Ser1142=)
c.4061C= (p.Ser1354=)
c.3872C= (p.Ser1291=)
c.2276C= (p.Ser759=)
n.4412C=
6g.52025674G>TCA364435659PKHD1c.4136C>A (p.Ser1379Tyr)
c.4101+35C>A (n.4101+35C>A)
c.3425C>A (p.Ser1142Tyr)
c.4061C>A (p.Ser1354Tyr)
c.3872C>A (p.Ser1291Tyr)
c.2276C>A (p.Ser759Tyr)
n.4412C>A
6g.52025675A>CCA364435664PKHD1c.4135T>G (p.Ser1379Ala)
c.4101+34T>G (n.4101+34T>G)
c.3424T>G (p.Ser1142Ala)
c.4060T>G (p.Ser1354Ala)
c.3871T>G (p.Ser1291Ala)
c.2275T>G (p.Ser759Ala)
n.4411T>G
6g.52025675A>GCA364435668PKHD1c.4135T>C (p.Ser1379Pro)
c.4101+34T>C (n.4101+34T>C)
c.3424T>C (p.Ser1142Pro)
c.4060T>C (p.Ser1354Pro)
c.3871T>C (p.Ser1291Pro)
c.2275T>C (p.Ser759Pro)
n.4411T>C
 gnomAD v4
6g.52025675A>TCA364435669PKHD1c.4135T>A (p.Ser1379Thr)
c.4101+34T>A (n.4101+34T>A)
c.3424T>A (p.Ser1142Thr)
c.4060T>A (p.Ser1354Thr)
c.3871T>A (p.Ser1291Thr)
c.2275T>A (p.Ser759Thr)
n.4411T>A
6g.52025676C>ACA364435676PKHD1c.4134G>T (p.Met1378Ile)
c.4101+33G>T (n.4101+33G>T)
c.3423G>T (p.Met1141Ile)
c.4059G>T (p.Met1353Ile)
c.3870G>T (p.Met1290Ile)
c.2274G>T (p.Met758Ile)
n.4410G>T
6g.52025676C>GCA364435678PKHD1c.4134G>C (p.Met1378Ile)
c.4101+33G>C (n.4101+33G>C)
c.3423G>C (p.Met1141Ile)
c.4059G>C (p.Met1353Ile)
c.3870G>C (p.Met1290Ile)
c.2274G>C (p.Met758Ile)
n.4410G>C
 gnomAD v4
6g.52025676C>TCA364435673PKHD1c.4134G>A (p.Met1378Ile)
c.4101+33G>A (n.4101+33G>A)
c.3423G>A (p.Met1141Ile)
c.4059G>A (p.Met1353Ile)
c.3870G>A (p.Met1290Ile)
c.2274G>A (p.Met758Ile)
n.4410G>A
6g.52025677A=CA1628648310PKHD1c.4133T= (p.Met1378=)
c.4101+32T= (n.4101+32T=)
c.3422T= (p.Met1141=)
c.4058T= (p.Met1353=)
c.3869T= (p.Met1290=)
c.2273T= (p.Met758=)
n.4409T=
6g.52025677A>CCA364435681PKHD1c.4133T>G (p.Met1378Arg)
c.4101+32T>G (n.4101+32T>G)
c.3422T>G (p.Met1141Arg)
c.4058T>G (p.Met1353Arg)
c.3869T>G (p.Met1290Arg)
c.2273T>G (p.Met758Arg)
n.4409T>G
6g.52025677A>GCA364435683PKHD1c.4133T>C (p.Met1378Thr)
c.4101+32T>C (n.4101+32T>C)
c.3422T>C (p.Met1141Thr)
c.4058T>C (p.Met1353Thr)
c.3869T>C (p.Met1290Thr)
c.2273T>C (p.Met758Thr)
n.4409T>C
 ClinVar dbSNP
6g.52025677A>TCA364435688PKHD1c.4133T>A (p.Met1378Lys)
c.4101+32T>A (n.4101+32T>A)
c.3422T>A (p.Met1141Lys)
c.4058T>A (p.Met1353Lys)
c.3869T>A (p.Met1290Lys)
c.2273T>A (p.Met758Lys)
n.4409T>A
6g.52025679_52025680delCA2711836624PKHD1c.4132_4133del (p.Met1378ValfsTer?)
c.4101+31_4101+32del (n.4101+31_4101+32del)
c.3421_3422del (p.Met1141ValfsTer?)
c.4057_4058del (p.Met1353ValfsTer?)
c.3868_3869del (p.Met1290ValfsTer?)
c.2272_2273del (p.Met758ValfsTer?)
n.4408_4409del
 dbSNP
6g.52025678T>ACA364435693PKHD1c.4132A>T (p.Met1378Leu)
c.4101+31A>T (n.4101+31A>T)
c.3421A>T (p.Met1141Leu)
c.4057A>T (p.Met1353Leu)
c.3868A>T (p.Met1290Leu)
c.2272A>T (p.Met758Leu)
n.4408A>T
6g.52025678T>CCA3852772PKHD1c.4132A>G (p.Met1378Val)
c.4101+31A>G (n.4101+31A>G)
c.3421A>G (p.Met1141Val)
c.4057A>G (p.Met1353Val)
c.3868A>G (p.Met1290Val)
c.2272A>G (p.Met758Val)
n.4408A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52025678T>GCA364435696PKHD1c.4132A>C (p.Met1378Leu)
c.4101+31A>C (n.4101+31A>C)
c.3421A>C (p.Met1141Leu)
c.4057A>C (p.Met1353Leu)
c.3868A>C (p.Met1290Leu)
c.2272A>C (p.Met758Leu)
n.4408A>C
6g.52025678T=CA1628648314PKHD1c.4132A= (p.Met1378=)
c.4101+31A= (n.4101+31A=)
c.3421A= (p.Met1141=)
c.4057A= (p.Met1353=)
c.3868A= (p.Met1290=)
c.2272A= (p.Met758=)
n.4408A=
6g.52025679A>CCA364435712PKHD1c.4131T>G (p.Asn1377Lys)
c.4101+30T>G (n.4101+30T>G)
c.3420T>G (p.Asn1140Lys)
c.4056T>G (p.Asn1352Lys)
c.3867T>G (p.Asn1289Lys)
c.2271T>G (p.Asn757Lys)
n.4407T>G
6g.52025679A>GCA450614664PKHD1c.4131T>C (p.Asn1377=)
c.4101+30T>C (n.4101+30T>C)
c.3420T>C (p.Asn1140=)
c.4056T>C (p.Asn1352=)
c.3867T>C (p.Asn1289=)
c.2271T>C (p.Asn757=)
n.4407T>C
 COSMIC COSMIC
6g.52025679A>TCA364435710PKHD1c.4131T>A (p.Asn1377Lys)
c.4101+30T>A (n.4101+30T>A)
c.3420T>A (p.Asn1140Lys)
c.4056T>A (p.Asn1352Lys)
c.3867T>A (p.Asn1289Lys)
c.2271T>A (p.Asn757Lys)
n.4407T>A
6g.52025680T>ACA364435722PKHD1c.4130A>T (p.Asn1377Ile)
c.4101+29A>T (n.4101+29A>T)
c.3419A>T (p.Asn1140Ile)
c.4055A>T (p.Asn1352Ile)
c.3866A>T (p.Asn1289Ile)
c.2270A>T (p.Asn757Ile)
n.4406A>T
6g.52025680T>CCA364435725PKHD1c.4130A>G (p.Asn1377Ser)
c.4101+29A>G (n.4101+29A>G)
c.3419A>G (p.Asn1140Ser)
c.4055A>G (p.Asn1352Ser)
c.3866A>G (p.Asn1289Ser)
c.2270A>G (p.Asn757Ser)
n.4406A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52025680T>GCA3852773PKHD1c.4130A>C (p.Asn1377Thr)
c.4101+29A>C (n.4101+29A>C)
c.3419A>C (p.Asn1140Thr)
c.4055A>C (p.Asn1352Thr)
c.3866A>C (p.Asn1289Thr)
c.2270A>C (p.Asn757Thr)
n.4406A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52025680T=CA1628648318PKHD1c.4130A= (p.Asn1377=)
c.4101+29A= (n.4101+29A=)
c.3419A= (p.Asn1140=)
c.4055A= (p.Asn1352=)
c.3866A= (p.Asn1289=)
c.2270A= (p.Asn757=)
n.4406A=
6g.52025681T>ACA364435728PKHD1c.4129A>T (p.Asn1377Tyr)
c.4101+28A>T (n.4101+28A>T)
c.3418A>T (p.Asn1140Tyr)
c.4054A>T (p.Asn1352Tyr)
c.3865A>T (p.Asn1289Tyr)
c.2269A>T (p.Asn757Tyr)
n.4405A>T
6g.52025681T>CCA364435730PKHD1c.4129A>G (p.Asn1377Asp)
c.4101+28A>G (n.4101+28A>G)
c.3418A>G (p.Asn1140Asp)
c.4054A>G (p.Asn1352Asp)
c.3865A>G (p.Asn1289Asp)
c.2269A>G (p.Asn757Asp)
n.4405A>G
 dbSNP gnomAD v3 gnomAD v4
6g.52025681T>GCA364435731PKHD1c.4129A>C (p.Asn1377His)
c.4101+28A>C (n.4101+28A>C)
c.3418A>C (p.Asn1140His)
c.4054A>C (p.Asn1352His)
c.3865A>C (p.Asn1289His)
c.2269A>C (p.Asn757His)
n.4405A>C
6g.52025681T=CA1628648322PKHD1c.4129A= (p.Asn1377=)
c.4101+28A= (n.4101+28A=)
c.3418A= (p.Asn1140=)
c.4054A= (p.Asn1352=)
c.3865A= (p.Asn1289=)
c.2269A= (p.Asn757=)
n.4405A=
6g.52025682A>CCA450614670PKHD1c.4128T>G (p.Ala1376=)
c.4101+27T>G (n.4101+27T>G)
c.3417T>G (p.Ala1139=)
c.4053T>G (p.Ala1351=)
c.3864T>G (p.Ala1288=)
c.2268T>G (p.Ala756=)
n.4404T>G
6g.52025682A>GCA450614671PKHD1c.4128T>C (p.Ala1376=)
c.4101+27T>C (n.4101+27T>C)
c.3417T>C (p.Ala1139=)
c.4053T>C (p.Ala1351=)
c.3864T>C (p.Ala1288=)
c.2268T>C (p.Ala756=)
n.4404T>C
6g.52025682A>TCA450614672PKHD1c.4128T>A (p.Ala1376=)
c.4101+27T>A (n.4101+27T>A)
c.3417T>A (p.Ala1139=)
c.4053T>A (p.Ala1351=)
c.3864T>A (p.Ala1288=)
c.2268T>A (p.Ala756=)
n.4404T>A
6g.52025683G>ACA364435736PKHD1c.4127C>T (p.Ala1376Val)
c.4101+26C>T (n.4101+26C>T)
c.3416C>T (p.Ala1139Val)
c.4052C>T (p.Ala1351Val)
c.3863C>T (p.Ala1288Val)
c.2267C>T (p.Ala756Val)
n.4403C>T
6g.52025683G>CCA364435738PKHD1c.4127C>G (p.Ala1376Gly)
c.4101+26C>G (n.4101+26C>G)
c.3416C>G (p.Ala1139Gly)
c.4052C>G (p.Ala1351Gly)
c.3863C>G (p.Ala1288Gly)
c.2267C>G (p.Ala756Gly)
n.4403C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52025683G=CA1628648325PKHD1c.4127C= (p.Ala1376=)
c.4101+26C= (n.4101+26C=)
c.3416C= (p.Ala1139=)
c.4052C= (p.Ala1351=)
c.3863C= (p.Ala1288=)
c.2267C= (p.Ala756=)
n.4403C=
6g.52025683G>TCA364435737PKHD1c.4127C>A (p.Ala1376Asp)
c.4101+26C>A (n.4101+26C>A)
c.3416C>A (p.Ala1139Asp)
c.4052C>A (p.Ala1351Asp)
c.3863C>A (p.Ala1288Asp)
c.2267C>A (p.Ala756Asp)
n.4403C>A
6g.52025684C>ACA364435739PKHD1c.4126G>T (p.Ala1376Ser)
c.4101+25G>T (n.4101+25G>T)
c.3415G>T (p.Ala1139Ser)
c.4051G>T (p.Ala1351Ser)
c.3862G>T (p.Ala1288Ser)
c.2266G>T (p.Ala756Ser)
n.4402G>T
6g.52025684C>GCA364435740PKHD1c.4126G>C (p.Ala1376Pro)
c.4101+25G>C (n.4101+25G>C)
c.3415G>C (p.Ala1139Pro)
c.4051G>C (p.Ala1351Pro)
c.3862G>C (p.Ala1288Pro)
c.2266G>C (p.Ala756Pro)
n.4402G>C

Number of alleles fetched