Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
6g.52025684C>TCA364435741PKHD1c.4126G>A (p.Ala1376Thr)
c.4101+25G>A (n.4101+25G>A)
c.3415G>A (p.Ala1139Thr)
c.4051G>A (p.Ala1351Thr)
c.3862G>A (p.Ala1288Thr)
c.2266G>A (p.Ala756Thr)
n.4402G>A
6g.52025685A>CCA364435742PKHD1c.4125T>G (p.Phe1375Leu)
c.4101+24T>G (n.4101+24T>G)
c.3414T>G (p.Phe1138Leu)
c.4050T>G (p.Phe1350Leu)
c.3861T>G (p.Phe1287Leu)
c.2265T>G (p.Phe755Leu)
n.4401T>G
6g.52025685A>GCA450614680PKHD1c.4125T>C (p.Phe1375=)
c.4101+24T>C (n.4101+24T>C)
c.3414T>C (p.Phe1138=)
c.4050T>C (p.Phe1350=)
c.3861T>C (p.Phe1287=)
c.2265T>C (p.Phe755=)
n.4401T>C
 gnomAD v4
6g.52025685A>TCA364435744PKHD1c.4125T>A (p.Phe1375Leu)
c.4101+24T>A (n.4101+24T>A)
c.3414T>A (p.Phe1138Leu)
c.4050T>A (p.Phe1350Leu)
c.3861T>A (p.Phe1287Leu)
c.2265T>A (p.Phe755Leu)
n.4401T>A
6g.52025686A=CA1628648327PKHD1c.4124T= (p.Phe1375=)
c.4101+23T= (n.4101+23T=)
c.3413T= (p.Phe1138=)
c.4049T= (p.Phe1350=)
c.3860T= (p.Phe1287=)
c.2264T= (p.Phe755=)
n.4400T=
6g.52025686A>CCA364435747PKHD1c.4124T>G (p.Phe1375Cys)
c.4101+23T>G (n.4101+23T>G)
c.3413T>G (p.Phe1138Cys)
c.4049T>G (p.Phe1350Cys)
c.3860T>G (p.Phe1287Cys)
c.2264T>G (p.Phe755Cys)
n.4400T>G
 dbSNP gnomAD v2 gnomAD v4
6g.52025686A>GCA364435749PKHD1c.4124T>C (p.Phe1375Ser)
c.4101+23T>C (n.4101+23T>C)
c.3413T>C (p.Phe1138Ser)
c.4049T>C (p.Phe1350Ser)
c.3860T>C (p.Phe1287Ser)
c.2264T>C (p.Phe755Ser)
n.4400T>C
6g.52025686A>TCA364435751PKHD1c.4124T>A (p.Phe1375Tyr)
c.4101+23T>A (n.4101+23T>A)
c.3413T>A (p.Phe1138Tyr)
c.4049T>A (p.Phe1350Tyr)
c.3860T>A (p.Phe1287Tyr)
c.2264T>A (p.Phe755Tyr)
n.4400T>A
6g.52025687A>CCA364435753PKHD1c.4123T>G (p.Phe1375Val)
c.4101+22T>G (n.4101+22T>G)
c.3412T>G (p.Phe1138Val)
c.4048T>G (p.Phe1350Val)
c.3859T>G (p.Phe1287Val)
c.2263T>G (p.Phe755Val)
n.4399T>G
6g.52025687A>GCA364435756PKHD1c.4123T>C (p.Phe1375Leu)
c.4101+22T>C (n.4101+22T>C)
c.3412T>C (p.Phe1138Leu)
c.4048T>C (p.Phe1350Leu)
c.3859T>C (p.Phe1287Leu)
c.2263T>C (p.Phe755Leu)
n.4399T>C
6g.52025687A>TCA364435771PKHD1c.4123T>A (p.Phe1375Ile)
c.4101+22T>A (n.4101+22T>A)
c.3412T>A (p.Phe1138Ile)
c.4048T>A (p.Phe1350Ile)
c.3859T>A (p.Phe1287Ile)
c.2263T>A (p.Phe755Ile)
n.4399T>A
6g.52025688T>ACA450614685PKHD1c.4122A>T (p.Gly1374=)
c.4101+21A>T (n.4101+21A>T)
c.3411A>T (p.Gly1137=)
c.4047A>T (p.Gly1349=)
c.3858A>T (p.Gly1286=)
c.2262A>T (p.Gly754=)
n.4398A>T
6g.52025688T>CCA450614686PKHD1c.4122A>G (p.Gly1374=)
c.4101+21A>G (n.4101+21A>G)
c.3411A>G (p.Gly1137=)
c.4047A>G (p.Gly1349=)
c.3858A>G (p.Gly1286=)
c.2262A>G (p.Gly754=)
n.4398A>G
6g.52025688T>GCA450614689PKHD1c.4122A>C (p.Gly1374=)
c.4101+21A>C (n.4101+21A>C)
c.3411A>C (p.Gly1137=)
c.4047A>C (p.Gly1349=)
c.3858A>C (p.Gly1286=)
c.2262A>C (p.Gly754=)
n.4398A>C
6g.52025688_52025689delinsTCCA1628648328PKHD1c.4121_4122delinsGA (p.Gly1374=)
c.4101+20_4101+21delinsGA (n.4101+20_4101+21delinsGA)
c.3410_3411delinsGA (p.Gly1137=)
c.4046_4047delinsGA (p.Gly1349=)
c.3857_3858delinsGA (p.Gly1286=)
c.2261_2262delinsGA (p.Gly754=)
n.4397_4398delinsGA
6g.52025689C>ACA364435780PKHD1c.4121G>T (p.Gly1374Val)
c.4101+20G>T (n.4101+20G>T)
c.3410G>T (p.Gly1137Val)
c.4046G>T (p.Gly1349Val)
c.3857G>T (p.Gly1286Val)
c.2261G>T (p.Gly754Val)
n.4397G>T
6g.52025689C>GCA364435777PKHD1c.4121G>C (p.Gly1374Ala)
c.4101+20G>C (n.4101+20G>C)
c.3410G>C (p.Gly1137Ala)
c.4046G>C (p.Gly1349Ala)
c.3857G>C (p.Gly1286Ala)
c.2261G>C (p.Gly754Ala)
n.4397G>C
6g.52025689C>TCA364435783PKHD1c.4121G>A (p.Gly1374Glu)
c.4101+20G>A (n.4101+20G>A)
c.3410G>A (p.Gly1137Glu)
c.4046G>A (p.Gly1349Glu)
c.3857G>A (p.Gly1286Glu)
c.2261G>A (p.Gly754Glu)
n.4397G>A
6g.52025691delCA16041056PKHD1c.4121del (p.Gly1374AspfsTer14)
c.4101+20del (n.4101+20del)
c.3410del (p.Gly1137AspfsTer14)
c.4046del (p.Gly1349AspfsTer14)
c.3857del (p.Gly1286AspfsTer14)
c.2261del (p.Gly754AspfsTer14)
n.4397del
 ClinVar dbSNP gnomAD v4
6g.52025690C>ACA364435794PKHD1c.4120G>T (p.Gly1374Ter)
c.4101+19G>T (n.4101+19G>T)
c.3409G>T (p.Gly1137Ter)
c.4045G>T (p.Gly1349Ter)
c.3856G>T (p.Gly1286Ter)
c.2260G>T (p.Gly754Ter)
n.4396G>T
6g.52025690C=CA1628648336PKHD1c.4120G= (p.Gly1374=)
c.4101+19G= (n.4101+19G=)
c.3409G= (p.Gly1137=)
c.4045G= (p.Gly1349=)
c.3856G= (p.Gly1286=)
c.2260G= (p.Gly754=)
n.4396G=

Number of alleles fetched