Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.52028271A>CCA364440632PKHD1c.3445T>G (p.Leu1149Val)
c.2734T>G (p.Leu912Val)
c.3370T>G (p.Leu1124Val)
c.3365-2090T>G (n.3365-2090T>G)
c.1585T>G (p.Leu529Val)
n.3721T>G
6g.52028271A>GCA450615136PKHD1c.3445T>C (p.Leu1149=)
c.2734T>C (p.Leu912=)
c.3370T>C (p.Leu1124=)
c.3365-2090T>C (n.3365-2090T>C)
c.1585T>C (p.Leu529=)
n.3721T>C
6g.52028271A>TCA364440633PKHD1c.3445T>A (p.Leu1149Met)
c.2734T>A (p.Leu912Met)
c.3370T>A (p.Leu1124Met)
c.3365-2090T>A (n.3365-2090T>A)
c.1585T>A (p.Leu529Met)
n.3721T>A
6g.52028272G>ACA3852936PKHD1c.3444C>T (p.Ala1148=)
c.2733C>T (p.Ala911=)
c.3369C>T (p.Ala1123=)
c.3365-2091C>T (n.3365-2091C>T)
c.1584C>T (p.Ala528=)
n.3720C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52028272G>CCA450615138PKHD1c.3444C>G (p.Ala1148=)
c.2733C>G (p.Ala911=)
c.3369C>G (p.Ala1123=)
c.3365-2091C>G (n.3365-2091C>G)
c.1584C>G (p.Ala528=)
n.3720C>G
6g.52028272G=CA1628600517PKHD1c.3444C= (p.Ala1148=)
c.2733C= (p.Ala911=)
c.3369C= (p.Ala1123=)
c.3365-2091C= (n.3365-2091C=)
c.1584C= (p.Ala528=)
n.3720C=
6g.52028272G>TCA450615137PKHD1c.3444C>A (p.Ala1148=)
c.2733C>A (p.Ala911=)
c.3369C>A (p.Ala1123=)
c.3365-2091C>A (n.3365-2091C>A)
c.1584C>A (p.Ala528=)
n.3720C>A
6g.52028273G>ACA364440636PKHD1c.3443C>T (p.Ala1148Val)
c.2732C>T (p.Ala911Val)
c.3368C>T (p.Ala1123Val)
c.3365-2092C>T (n.3365-2092C>T)
c.1583C>T (p.Ala528Val)
n.3719C>T
6g.52028273G>CCA138949465PKHD1c.3443C>G (p.Ala1148Gly)
c.2732C>G (p.Ala911Gly)
c.3368C>G (p.Ala1123Gly)
c.3365-2092C>G (n.3365-2092C>G)
c.1583C>G (p.Ala528Gly)
n.3719C>G
 dbSNP gnomAD v3 gnomAD v4
6g.52028273G=CA1628600525PKHD1c.3443C= (p.Ala1148=)
c.2732C= (p.Ala911=)
c.3368C= (p.Ala1123=)
c.3365-2092C= (n.3365-2092C=)
c.1583C= (p.Ala528=)
n.3719C=
6g.52028273G>TCA364440638PKHD1c.3443C>A (p.Ala1148Asp)
c.2732C>A (p.Ala911Asp)
c.3368C>A (p.Ala1123Asp)
c.3365-2092C>A (n.3365-2092C>A)
c.1583C>A (p.Ala528Asp)
n.3719C>A
6g.52028274C>ACA364440639PKHD1c.3442G>T (p.Ala1148Ser)
c.2731G>T (p.Ala911Ser)
c.3367G>T (p.Ala1123Ser)
c.3365-2093G>T (n.3365-2093G>T)
c.1582G>T (p.Ala528Ser)
n.3718G>T
 COSMIC COSMIC
6g.52028274C>GCA364440643PKHD1c.3442G>C (p.Ala1148Pro)
c.2731G>C (p.Ala911Pro)
c.3367G>C (p.Ala1123Pro)
c.3365-2093G>C (n.3365-2093G>C)
c.1582G>C (p.Ala528Pro)
n.3718G>C
6g.52028274C>TCA364440645PKHD1c.3442G>A (p.Ala1148Thr)
c.2731G>A (p.Ala911Thr)
c.3367G>A (p.Ala1123Thr)
c.3365-2093G>A (n.3365-2093G>A)
c.1582G>A (p.Ala528Thr)
n.3718G>A
6g.52028275A>CCA364440647PKHD1c.3441T>G (p.Asp1147Glu)
c.2730T>G (p.Asp910Glu)
c.3366T>G (p.Asp1122Glu)
c.3365-2094T>G (n.3365-2094T>G)
c.1581T>G (p.Asp527Glu)
n.3717T>G
6g.52028275A>GCA450615139PKHD1c.3441T>C (p.Asp1147=)
c.2730T>C (p.Asp910=)
c.3366T>C (p.Asp1122=)
c.3365-2094T>C (n.3365-2094T>C)
c.1581T>C (p.Asp527=)
n.3717T>C
6g.52028275A>TCA364440649PKHD1c.3441T>A (p.Asp1147Glu)
c.2730T>A (p.Asp910Glu)
c.3366T>A (p.Asp1122Glu)
c.3365-2094T>A (n.3365-2094T>A)
c.1581T>A (p.Asp527Glu)
n.3717T>A
6g.52028276T>ACA364440651PKHD1c.3440A>T (p.Asp1147Val)
c.2729A>T (p.Asp910Val)
c.3365A>T (p.Asp1122Val)
c.3365-2095A>T (n.3365-2095A>T)
c.1580A>T (p.Asp527Val)
n.3716A>T
6g.52028276T>CCA364440652PKHD1c.3440A>G (p.Asp1147Gly)
c.2729A>G (p.Asp910Gly)
c.3365A>G (p.Asp1122Gly)
c.3365-2095A>G (n.3365-2095A>G)
c.1580A>G (p.Asp527Gly)
n.3716A>G
6g.52028276T>GCA364440654PKHD1c.3440A>C (p.Asp1147Ala)
c.2729A>C (p.Asp910Ala)
c.3365A>C (p.Asp1122Ala)
c.3365-2095A>C (n.3365-2095A>C)
c.1580A>C (p.Asp527Ala)
n.3716A>C
6g.52028277C>ACA364440656PKHD1c.3439G>T (p.Asp1147Tyr)
c.2728G>T (p.Asp910Tyr)
c.3364G>T (p.Asp1122Tyr)
c.3365-2096G>T (n.3365-2096G>T)
c.1579G>T (p.Asp527Tyr)
n.3715G>T
6g.52028277C>GCA364440658PKHD1c.3439G>C (p.Asp1147His)
c.2728G>C (p.Asp910His)
c.3364G>C (p.Asp1122His)
c.3365-2096G>C (n.3365-2096G>C)
c.1579G>C (p.Asp527His)
n.3715G>C
6g.52028277C>TCA364440659PKHD1c.3439G>A (p.Asp1147Asn)
c.2728G>A (p.Asp910Asn)
c.3364G>A (p.Asp1122Asn)
c.3365-2096G>A (n.3365-2096G>A)
c.1579G>A (p.Asp527Asn)
n.3715G>A
 gnomAD v4
6g.52028278C>ACA364440660PKHD1c.3438G>T (p.Gln1146His)
c.2727G>T (p.Gln909His)
c.3363G>T (p.Gln1121His)
c.3365-2097G>T (n.3365-2097G>T)
c.1578G>T (p.Gln526His)
n.3714G>T
6g.52028278C=CA1628600531PKHD1c.3438G= (p.Gln1146=)
c.2727G= (p.Gln909=)
c.3363G= (p.Gln1121=)
c.3365-2097G= (n.3365-2097G=)
c.1578G= (p.Gln526=)
n.3714G=
6g.52028278C>GCA364440662PKHD1c.3438G>C (p.Gln1146His)
c.2727G>C (p.Gln909His)
c.3363G>C (p.Gln1121His)
c.3365-2097G>C (n.3365-2097G>C)
c.1578G>C (p.Gln526His)
n.3714G>C
6g.52028278C>TCA138949477PKHD1c.3438G>A (p.Gln1146=)
c.2727G>A (p.Gln909=)
c.3363G>A (p.Gln1121=)
c.3365-2097G>A (n.3365-2097G>A)
c.1578G>A (p.Gln526=)
n.3714G>A
 ClinVar dbSNP gnomAD v4
6g.52028279T>ACA364440665PKHD1c.3437A>T (p.Gln1146Leu)
c.2726A>T (p.Gln909Leu)
c.3362A>T (p.Gln1121Leu)
c.3365-2098A>T (n.3365-2098A>T)
c.1577A>T (p.Gln526Leu)
n.3713A>T
6g.52028279T>CCA364440666PKHD1c.3437A>G (p.Gln1146Arg)
c.2726A>G (p.Gln909Arg)
c.3362A>G (p.Gln1121Arg)
c.3365-2098A>G (n.3365-2098A>G)
c.1577A>G (p.Gln526Arg)
n.3713A>G
6g.52028279T>GCA364440667PKHD1c.3437A>C (p.Gln1146Pro)
c.2726A>C (p.Gln909Pro)
c.3362A>C (p.Gln1121Pro)
c.3365-2098A>C (n.3365-2098A>C)
c.1577A>C (p.Gln526Pro)
n.3713A>C
6g.52028280G>ACA364440669PKHD1c.3436C>T (p.Gln1146Ter)
c.2725C>T (p.Gln909Ter)
c.3361C>T (p.Gln1121Ter)
c.3365-2099C>T (n.3365-2099C>T)
c.1576C>T (p.Gln526Ter)
n.3712C>T
6g.52028280G>CCA364440670PKHD1c.3436C>G (p.Gln1146Glu)
c.2725C>G (p.Gln909Glu)
c.3361C>G (p.Gln1121Glu)
c.3365-2099C>G (n.3365-2099C>G)
c.1576C>G (p.Gln526Glu)
n.3712C>G
 gnomAD v4
6g.52028280G>TCA364440671PKHD1c.3436C>A (p.Gln1146Lys)
c.2725C>A (p.Gln909Lys)
c.3361C>A (p.Gln1121Lys)
c.3365-2099C>A (n.3365-2099C>A)
c.1576C>A (p.Gln526Lys)
n.3712C>A
6g.52028281G>ACA3852937PKHD1c.3435C>T (p.Val1145=)
c.2724C>T (p.Val908=)
c.3360C>T (p.Val1120=)
c.3365-2100C>T (n.3365-2100C>T)
c.1575C>T (p.Val525=)
n.3711C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52028281G>CCA450615140PKHD1c.3435C>G (p.Val1145=)
c.2724C>G (p.Val908=)
c.3360C>G (p.Val1120=)
c.3365-2100C>G (n.3365-2100C>G)
c.1575C>G (p.Val525=)
n.3711C>G
6g.52028281G=CA1628600536PKHD1c.3435C= (p.Val1145=)
c.2724C= (p.Val908=)
c.3360C= (p.Val1120=)
c.3365-2100C= (n.3365-2100C=)
c.1575C= (p.Val525=)
n.3711C=
6g.52028281G>TCA450615141PKHD1c.3435C>A (p.Val1145=)
c.2724C>A (p.Val908=)
c.3360C>A (p.Val1120=)
c.3365-2100C>A (n.3365-2100C>A)
c.1575C>A (p.Val525=)
n.3711C>A
6g.52028282A>CCA364440676PKHD1c.3434T>G (p.Val1145Gly)
c.2723T>G (p.Val908Gly)
c.3359T>G (p.Val1120Gly)
c.3365-2101T>G (n.3365-2101T>G)
c.1574T>G (p.Val525Gly)
n.3710T>G
6g.52028282A>GCA364440672PKHD1c.3434T>C (p.Val1145Ala)
c.2723T>C (p.Val908Ala)
c.3359T>C (p.Val1120Ala)
c.3365-2101T>C (n.3365-2101T>C)
c.1574T>C (p.Val525Ala)
n.3710T>C
6g.52028282A>TCA364440674PKHD1c.3434T>A (p.Val1145Asp)
c.2723T>A (p.Val908Asp)
c.3359T>A (p.Val1120Asp)
c.3365-2101T>A (n.3365-2101T>A)
c.1574T>A (p.Val525Asp)
n.3710T>A
6g.52028283C>ACA364440678PKHD1c.3433G>T (p.Val1145Phe)
c.2722G>T (p.Val908Phe)
c.3358G>T (p.Val1120Phe)
c.3365-2102G>T (n.3365-2102G>T)
c.1573G>T (p.Val525Phe)
n.3709G>T
6g.52028283C=CA1628600546PKHD1c.3433G= (p.Val1145=)
c.2722G= (p.Val908=)
c.3358G= (p.Val1120=)
c.3365-2102G= (n.3365-2102G=)
c.1573G= (p.Val525=)
n.3709G=
6g.52028283C>GCA364440679PKHD1c.3433G>C (p.Val1145Leu)
c.2722G>C (p.Val908Leu)
c.3358G>C (p.Val1120Leu)
c.3365-2102G>C (n.3365-2102G>C)
c.1573G>C (p.Val525Leu)
n.3709G>C
 gnomAD v4
6g.52028283C>TCA3852938PKHD1c.3433G>A (p.Val1145Ile)
c.2722G>A (p.Val908Ile)
c.3358G>A (p.Val1120Ile)
c.3365-2102G>A (n.3365-2102G>A)
c.1573G>A (p.Val525Ile)
n.3709G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52028284G>ACA3852939PKHD1c.3432C>T (p.His1144=)
c.2721C>T (p.His907=)
c.3357C>T (p.His1119=)
c.3365-2103C>T (n.3365-2103C>T)
c.1572C>T (p.His524=)
n.3708C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.52028284G>CCA3852940PKHD1c.3432C>G (p.His1144Gln)
c.2721C>G (p.His907Gln)
c.3357C>G (p.His1119Gln)
c.3365-2103C>G (n.3365-2103C>G)
c.1572C>G (p.His524Gln)
n.3708C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52028284G=CA1628600563PKHD1c.3432C= (p.His1144=)
c.2721C= (p.His907=)
c.3357C= (p.His1119=)
c.3365-2103C= (n.3365-2103C=)
c.1572C= (p.His524=)
n.3708C=
6g.52028284G>TCA3852941PKHD1c.3432C>A (p.His1144Gln)
c.2721C>A (p.His907Gln)
c.3357C>A (p.His1119Gln)
c.3365-2103C>A (n.3365-2103C>A)
c.1572C>A (p.His524Gln)
n.3708C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52028285T>ACA364440684PKHD1c.3431A>T (p.His1144Leu)
c.2720A>T (p.His907Leu)
c.3356A>T (p.His1119Leu)
c.3365-2104A>T (n.3365-2104A>T)
c.1571A>T (p.His524Leu)
n.3707A>T
 gnomAD v4
6g.52028285T>CCA364440686PKHD1c.3431A>G (p.His1144Arg)
c.2720A>G (p.His907Arg)
c.3356A>G (p.His1119Arg)
c.3365-2104A>G (n.3365-2104A>G)
c.1571A>G (p.His524Arg)
n.3707A>G
6g.52028285T>GCA364440687PKHD1c.3431A>C (p.His1144Pro)
c.2720A>C (p.His907Pro)
c.3356A>C (p.His1119Pro)
c.3365-2104A>C (n.3365-2104A>C)
c.1571A>C (p.His524Pro)
n.3707A>C
6g.52028286G>ACA364440688PKHD1c.3430C>T (p.His1144Tyr)
c.2719C>T (p.His907Tyr)
c.3355C>T (p.His1119Tyr)
c.3365-2105C>T (n.3365-2105C>T)
c.1570C>T (p.His524Tyr)
n.3706C>T
 dbSNP gnomAD v3 gnomAD v4
6g.52028286G>CCA364440689PKHD1c.3430C>G (p.His1144Asp)
c.2719C>G (p.His907Asp)
c.3355C>G (p.His1119Asp)
c.3365-2105C>G (n.3365-2105C>G)
c.1570C>G (p.His524Asp)
n.3706C>G
6g.52028286G=CA1628600576PKHD1c.3430C= (p.His1144=)
c.2719C= (p.His907=)
c.3355C= (p.His1119=)
c.3365-2105C= (n.3365-2105C=)
c.1570C= (p.His524=)
n.3706C=
6g.52028286G>TCA364440691PKHD1c.3430C>A (p.His1144Asn)
c.2719C>A (p.His907Asn)
c.3355C>A (p.His1119Asn)
c.3365-2105C>A (n.3365-2105C>A)
c.1570C>A (p.His524Asn)
n.3706C>A
6g.52028287G>ACA450615142PKHD1c.3429C>T (p.Val1143=)
c.2718C>T (p.Val906=)
c.3354C>T (p.Val1118=)
c.3365-2106C>T (n.3365-2106C>T)
c.1569C>T (p.Val523=)
n.3705C>T
6g.52028287G>CCA450615143PKHD1c.3429C>G (p.Val1143=)
c.2718C>G (p.Val906=)
c.3354C>G (p.Val1118=)
c.3365-2106C>G (n.3365-2106C>G)
c.1569C>G (p.Val523=)
n.3705C>G
6g.52028287G>TCA450615144PKHD1c.3429C>A (p.Val1143=)
c.2718C>A (p.Val906=)
c.3354C>A (p.Val1118=)
c.3365-2106C>A (n.3365-2106C>A)
c.1569C>A (p.Val523=)
n.3705C>A
6g.52028288A>CCA364440696PKHD1c.3428T>G (p.Val1143Gly)
c.2717T>G (p.Val906Gly)
c.3353T>G (p.Val1118Gly)
c.3365-2107T>G (n.3365-2107T>G)
c.1568T>G (p.Val523Gly)
n.3704T>G
6g.52028288A>GCA364440694PKHD1c.3428T>C (p.Val1143Ala)
c.2717T>C (p.Val906Ala)
c.3353T>C (p.Val1118Ala)
c.3365-2107T>C (n.3365-2107T>C)
c.1568T>C (p.Val523Ala)
n.3704T>C
6g.52028288A>TCA364440692PKHD1c.3428T>A (p.Val1143Asp)
c.2717T>A (p.Val906Asp)
c.3353T>A (p.Val1118Asp)
c.3365-2107T>A (n.3365-2107T>A)
c.1568T>A (p.Val523Asp)
n.3704T>A
6g.52028289C>ACA364440698PKHD1c.3427G>T (p.Val1143Phe)
c.2716G>T (p.Val906Phe)
c.3352G>T (p.Val1118Phe)
c.3365-2108G>T (n.3365-2108G>T)
c.1567G>T (p.Val523Phe)
n.3703G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52028289C=CA1628600581PKHD1c.3427G= (p.Val1143=)
c.2716G= (p.Val906=)
c.3352G= (p.Val1118=)
c.3365-2108G= (n.3365-2108G=)
c.1567G= (p.Val523=)
n.3703G=
6g.52028289C>GCA3852942PKHD1c.3427G>C (p.Val1143Leu)
c.2716G>C (p.Val906Leu)
c.3352G>C (p.Val1118Leu)
c.3365-2108G>C (n.3365-2108G>C)
c.1567G>C (p.Val523Leu)
n.3703G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52028289C>TCA364440701PKHD1c.3427G>A (p.Val1143Ile)
c.2716G>A (p.Val906Ile)
c.3352G>A (p.Val1118Ile)
c.3365-2108G>A (n.3365-2108G>A)
c.1567G>A (p.Val523Ile)
n.3703G>A
 dbSNP gnomAD v4
6g.52028290T>ACA364440702PKHD1c.3426A>T (p.Glu1142Asp)
c.2715A>T (p.Glu905Asp)
c.3351A>T (p.Glu1117Asp)
c.3365-2109A>T (n.3365-2109A>T)
c.1566A>T (p.Glu522Asp)
n.3702A>T
6g.52028290T>CCA450615147PKHD1c.3426A>G (p.Glu1142=)
c.2715A>G (p.Glu905=)
c.3351A>G (p.Glu1117=)
c.3365-2109A>G (n.3365-2109A>G)
c.1566A>G (p.Glu522=)
n.3702A>G
6g.52028290T>GCA364440703PKHD1c.3426A>C (p.Glu1142Asp)
c.2715A>C (p.Glu905Asp)
c.3351A>C (p.Glu1117Asp)
c.3365-2109A>C (n.3365-2109A>C)
c.1566A>C (p.Glu522Asp)
n.3702A>C
6g.52028291T>ACA364440706PKHD1c.3425A>T (p.Glu1142Val)
c.2714A>T (p.Glu905Val)
c.3350A>T (p.Glu1117Val)
c.3365-2110A>T (n.3365-2110A>T)
c.1565A>T (p.Glu522Val)
n.3701A>T
6g.52028291T>CCA364440708PKHD1c.3425A>G (p.Glu1142Gly)
c.2714A>G (p.Glu905Gly)
c.3350A>G (p.Glu1117Gly)
c.3365-2110A>G (n.3365-2110A>G)
c.1565A>G (p.Glu522Gly)
n.3701A>G
6g.52028291T>GCA364440709PKHD1c.3425A>C (p.Glu1142Ala)
c.2714A>C (p.Glu905Ala)
c.3350A>C (p.Glu1117Ala)
c.3365-2110A>C (n.3365-2110A>C)
c.1565A>C (p.Glu522Ala)
n.3701A>C
6g.52028292C>ACA364440710PKHD1c.3424G>T (p.Glu1142Ter)
c.2713G>T (p.Glu905Ter)
c.3349G>T (p.Glu1117Ter)
c.3365-2111G>T (n.3365-2111G>T)
c.1564G>T (p.Glu522Ter)
n.3700G>T
6g.52028292C=CA1628600593PKHD1c.3424G= (p.Glu1142=)
c.2713G= (p.Glu905=)
c.3349G= (p.Glu1117=)
c.3365-2111G= (n.3365-2111G=)
c.1564G= (p.Glu522=)
n.3700G=
6g.52028292C>GCA364440711PKHD1c.3424G>C (p.Glu1142Gln)
c.2713G>C (p.Glu905Gln)
c.3349G>C (p.Glu1117Gln)
c.3365-2111G>C (n.3365-2111G>C)
c.1564G>C (p.Glu522Gln)
n.3700G>C
6g.52028292C>TCA364440712PKHD1c.3424G>A (p.Glu1142Lys)
c.2713G>A (p.Glu905Lys)
c.3349G>A (p.Glu1117Lys)
c.3365-2111G>A (n.3365-2111G>A)
c.1564G>A (p.Glu522Lys)
n.3700G>A
 dbSNP gnomAD v4
6g.52028293C>ACA450615148PKHD1c.3423G>T (p.Val1141=)
c.2712G>T (p.Val904=)
c.3348G>T (p.Val1116=)
c.3365-2112G>T (n.3365-2112G>T)
c.1563G>T (p.Val521=)
n.3699G>T
6g.52028293C>GCA450615149PKHD1c.3423G>C (p.Val1141=)
c.2712G>C (p.Val904=)
c.3348G>C (p.Val1116=)
c.3365-2112G>C (n.3365-2112G>C)
c.1563G>C (p.Val521=)
n.3699G>C
6g.52028293C>TCA450615150PKHD1c.3423G>A (p.Val1141=)
c.2712G>A (p.Val904=)
c.3348G>A (p.Val1116=)
c.3365-2112G>A (n.3365-2112G>A)
c.1563G>A (p.Val521=)
n.3699G>A
6g.52028294A>CCA364440713PKHD1c.3422T>G (p.Val1141Gly)
c.2711T>G (p.Val904Gly)
c.3347T>G (p.Val1116Gly)
c.3365-2113T>G (n.3365-2113T>G)
c.1562T>G (p.Val521Gly)
n.3698T>G
6g.52028294A>GCA364440715PKHD1c.3422T>C (p.Val1141Ala)
c.2711T>C (p.Val904Ala)
c.3347T>C (p.Val1116Ala)
c.3365-2113T>C (n.3365-2113T>C)
c.1562T>C (p.Val521Ala)
n.3698T>C
6g.52028294A>TCA364440721PKHD1c.3422T>A (p.Val1141Glu)
c.2711T>A (p.Val904Glu)
c.3347T>A (p.Val1116Glu)
c.3365-2113T>A (n.3365-2113T>A)
c.1562T>A (p.Val521Glu)
n.3698T>A
6g.52028295delCA2695198876PKHD1c.3421del (p.Val1141TrpfsTer?)
c.2710del (p.Val904TrpfsTer?)
c.3346del (p.Val1116TrpfsTer?)
c.3365-2114del (n.3365-2114del)
c.1561del (p.Val521TrpfsTer?)
n.3697del
 ClinVar
6g.52028295C>ACA364440725PKHD1c.3421G>T (p.Val1141Leu)
c.2710G>T (p.Val904Leu)
c.3346G>T (p.Val1116Leu)
c.3365-2114G>T (n.3365-2114G>T)
c.1561G>T (p.Val521Leu)
n.3697G>T
6g.52028295C>GCA364440726PKHD1c.3421G>C (p.Val1141Leu)
c.2710G>C (p.Val904Leu)
c.3346G>C (p.Val1116Leu)
c.3365-2114G>C (n.3365-2114G>C)
c.1561G>C (p.Val521Leu)
n.3697G>C
6g.52028295C>TCA364440723PKHD1c.3421G>A (p.Val1141Met)
c.2710G>A (p.Val904Met)
c.3346G>A (p.Val1116Met)
c.3365-2114G>A (n.3365-2114G>A)
c.1561G>A (p.Val521Met)
n.3697G>A
 COSMIC
6g.52028296A>CCA364440729PKHD1c.3420T>G (p.Asp1140Glu)
c.2709T>G (p.Asp903Glu)
c.3345T>G (p.Asp1115Glu)
c.3365-2115T>G (n.3365-2115T>G)
c.1560T>G (p.Asp520Glu)
n.3696T>G
6g.52028296A>GCA450615152PKHD1c.3420T>C (p.Asp1140=)
c.2709T>C (p.Asp903=)
c.3345T>C (p.Asp1115=)
c.3365-2115T>C (n.3365-2115T>C)
c.1560T>C (p.Asp520=)
n.3696T>C
6g.52028296A>TCA364440730PKHD1c.3420T>A (p.Asp1140Glu)
c.2709T>A (p.Asp903Glu)
c.3345T>A (p.Asp1115Glu)
c.3365-2115T>A (n.3365-2115T>A)
c.1560T>A (p.Asp520Glu)
n.3696T>A
6g.52028297T>ACA3852943PKHD1c.3419A>T (p.Asp1140Val)
c.2708A>T (p.Asp903Val)
c.3344A>T (p.Asp1115Val)
c.3365-2116A>T (n.3365-2116A>T)
c.1559A>T (p.Asp520Val)
n.3695A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52028297T>CCA364440737PKHD1c.3419A>G (p.Asp1140Gly)
c.2708A>G (p.Asp903Gly)
c.3344A>G (p.Asp1115Gly)
c.3365-2116A>G (n.3365-2116A>G)
c.1559A>G (p.Asp520Gly)
n.3695A>G
6g.52028297T>GCA364440738PKHD1c.3419A>C (p.Asp1140Ala)
c.2708A>C (p.Asp903Ala)
c.3344A>C (p.Asp1115Ala)
c.3365-2116A>C (n.3365-2116A>C)
c.1559A>C (p.Asp520Ala)
n.3695A>C
6g.52028297T=CA1628600605PKHD1c.3419A= (p.Asp1140=)
c.2708A= (p.Asp903=)
c.3344A= (p.Asp1115=)
c.3365-2116A= (n.3365-2116A=)
c.1559A= (p.Asp520=)
n.3695A=
6g.52028298C>ACA364440741PKHD1c.3418G>T (p.Asp1140Tyr)
c.2707G>T (p.Asp903Tyr)
c.3343G>T (p.Asp1115Tyr)
c.3365-2117G>T (n.3365-2117G>T)
c.1558G>T (p.Asp520Tyr)
n.3694G>T
6g.52028298C>GCA364440743PKHD1c.3418G>C (p.Asp1140His)
c.2707G>C (p.Asp903His)
c.3343G>C (p.Asp1115His)
c.3365-2117G>C (n.3365-2117G>C)
c.1558G>C (p.Asp520His)
n.3694G>C
6g.52028298C>TCA364440744PKHD1c.3418G>A (p.Asp1140Asn)
c.2707G>A (p.Asp903Asn)
c.3343G>A (p.Asp1115Asn)
c.3365-2117G>A (n.3365-2117G>A)
c.1558G>A (p.Asp520Asn)
n.3694G>A
6g.52028299C>ACA364440746PKHD1c.3417G>T (p.Leu1139Phe)
c.2706G>T (p.Leu902Phe)
c.3342G>T (p.Leu1114Phe)
c.3365-2118G>T (n.3365-2118G>T)
c.1557G>T (p.Leu519Phe)
n.3693G>T
6g.52028299C=CA1628600609PKHD1c.3417G= (p.Leu1139=)
c.2706G= (p.Leu902=)
c.3342G= (p.Leu1114=)
c.3365-2118G= (n.3365-2118G=)
c.1557G= (p.Leu519=)
n.3693G=
6g.52028299C>GCA364440748PKHD1c.3417G>C (p.Leu1139Phe)
c.2706G>C (p.Leu902Phe)
c.3342G>C (p.Leu1114Phe)
c.3365-2118G>C (n.3365-2118G>C)
c.1557G>C (p.Leu519Phe)
n.3693G>C
6g.52028299C>TCA138949499PKHD1c.3417G>A (p.Leu1139=)
c.2706G>A (p.Leu902=)
c.3342G>A (p.Leu1114=)
c.3365-2118G>A (n.3365-2118G>A)
c.1557G>A (p.Leu519=)
n.3693G>A
 dbSNP gnomAD v4
6g.52028300A>CCA364440751PKHD1c.3416T>G (p.Leu1139Trp)
c.2705T>G (p.Leu902Trp)
c.3341T>G (p.Leu1114Trp)
c.3365-2119T>G (n.3365-2119T>G)
c.1556T>G (p.Leu519Trp)
n.3692T>G
6g.52028300A>GCA364440754PKHD1c.3416T>C (p.Leu1139Ser)
c.2705T>C (p.Leu902Ser)
c.3341T>C (p.Leu1114Ser)
c.3365-2119T>C (n.3365-2119T>C)
c.1556T>C (p.Leu519Ser)
n.3692T>C
6g.52028300A>TCA364440756PKHD1c.3416T>A (p.Leu1139Ter)
c.2705T>A (p.Leu902Ter)
c.3341T>A (p.Leu1114Ter)
c.3365-2119T>A (n.3365-2119T>A)
c.1556T>A (p.Leu519Ter)
n.3692T>A
6g.52028301A>CCA364440763PKHD1c.3415T>G (p.Leu1139Val)
c.2704T>G (p.Leu902Val)
c.3340T>G (p.Leu1114Val)
c.3365-2120T>G (n.3365-2120T>G)
c.1555T>G (p.Leu519Val)
n.3691T>G
6g.52028301A>GCA450615155PKHD1c.3415T>C (p.Leu1139=)
c.2704T>C (p.Leu902=)
c.3340T>C (p.Leu1114=)
c.3365-2120T>C (n.3365-2120T>C)
c.1555T>C (p.Leu519=)
n.3691T>C
 ClinVar
6g.52028301A>TCA364440758PKHD1c.3415T>A (p.Leu1139Met)
c.2704T>A (p.Leu902Met)
c.3340T>A (p.Leu1114Met)
c.3365-2120T>A (n.3365-2120T>A)
c.1555T>A (p.Leu519Met)
n.3691T>A
6g.52028302A=CA1628600613PKHD1c.3414T= (p.Asp1138=)
c.2703T= (p.Asp901=)
c.3339T= (p.Asp1113=)
c.3365-2121T= (n.3365-2121T=)
c.1554T= (p.Asp518=)
n.3690T=
6g.52028302A>CCA3852944PKHD1c.3414T>G (p.Asp1138Glu)
c.2703T>G (p.Asp901Glu)
c.3339T>G (p.Asp1113Glu)
c.3365-2121T>G (n.3365-2121T>G)
c.1554T>G (p.Asp518Glu)
n.3690T>G
 dbSNP ExAC gnomAD v3 gnomAD v4
6g.52028302A>GCA450615156PKHD1c.3414T>C (p.Asp1138=)
c.2703T>C (p.Asp901=)
c.3339T>C (p.Asp1113=)
c.3365-2121T>C (n.3365-2121T>C)
c.1554T>C (p.Asp518=)
n.3690T>C
6g.52028302A>TCA364440766PKHD1c.3414T>A (p.Asp1138Glu)
c.2703T>A (p.Asp901Glu)
c.3339T>A (p.Asp1113Glu)
c.3365-2121T>A (n.3365-2121T>A)
c.1554T>A (p.Asp518Glu)
n.3690T>A
 COSMIC COSMIC
6g.52028303T>ACA364440771PKHD1c.3413A>T (p.Asp1138Val)
c.2702A>T (p.Asp901Val)
c.3338A>T (p.Asp1113Val)
c.3365-2122A>T (n.3365-2122A>T)
c.1553A>T (p.Asp518Val)
n.3689A>T
6g.52028303T>CCA364440772PKHD1c.3413A>G (p.Asp1138Gly)
c.2702A>G (p.Asp901Gly)
c.3338A>G (p.Asp1113Gly)
c.3365-2122A>G (n.3365-2122A>G)
c.1553A>G (p.Asp518Gly)
n.3689A>G
6g.52028303T>GCA364440773PKHD1c.3413A>C (p.Asp1138Ala)
c.2702A>C (p.Asp901Ala)
c.3338A>C (p.Asp1113Ala)
c.3365-2122A>C (n.3365-2122A>C)
c.1553A>C (p.Asp518Ala)
n.3689A>C
6g.52028305_52028314delCA2580075515PKHD1c.3404_3413del (p.Asn1135IlefsTer?)
c.2693_2702del (p.Asn898IlefsTer?)
c.3329_3338del (p.Asn1110IlefsTer?)
c.3365-2131_3365-2122del (n.3365-2131_3365-2122del)
c.1544_1553del (p.Asn515IlefsTer?)
n.3680_3689del
 ClinVar
6g.52028304C>ACA364440775PKHD1c.3412G>T (p.Asp1138Tyr)
c.2701G>T (p.Asp901Tyr)
c.3337G>T (p.Asp1113Tyr)
c.3365-2123G>T (n.3365-2123G>T)
c.1552G>T (p.Asp518Tyr)
n.3688G>T
6g.52028304C=CA1628600614PKHD1c.3412G= (p.Asp1138=)
c.2701G= (p.Asp901=)
c.3337G= (p.Asp1113=)
c.3365-2123G= (n.3365-2123G=)
c.1552G= (p.Asp518=)
n.3688G=
6g.52028304C>GCA364440777PKHD1c.3412G>C (p.Asp1138His)
c.2701G>C (p.Asp901His)
c.3337G>C (p.Asp1113His)
c.3365-2123G>C (n.3365-2123G>C)
c.1552G>C (p.Asp518His)
n.3688G>C
6g.52028304C>TCA364440779PKHD1c.3412G>A (p.Asp1138Asn)
c.2701G>A (p.Asp901Asn)
c.3337G>A (p.Asp1113Asn)
c.3365-2123G>A (n.3365-2123G>A)
c.1552G>A (p.Asp518Asn)
n.3688G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.52028305C>ACA450615157PKHD1c.3411G>T (p.Thr1137=)
c.2700G>T (p.Thr900=)
c.3336G>T (p.Thr1112=)
c.3365-2124G>T (n.3365-2124G>T)
c.1551G>T (p.Thr517=)
n.3687G>T
6g.52028305C=CA1628600620PKHD1c.3411G= (p.Thr1137=)
c.2700G= (p.Thr900=)
c.3336G= (p.Thr1112=)
c.3365-2124G= (n.3365-2124G=)
c.1551G= (p.Thr517=)
n.3687G=
6g.52028305C>GCA450615159PKHD1c.3411G>C (p.Thr1137=)
c.2700G>C (p.Thr900=)
c.3336G>C (p.Thr1112=)
c.3365-2124G>C (n.3365-2124G>C)
c.1551G>C (p.Thr517=)
n.3687G>C
6g.52028305C>TCA3852945PKHD1c.3411G>A (p.Thr1137=)
c.2700G>A (p.Thr900=)
c.3336G>A (p.Thr1112=)
c.3365-2124G>A (n.3365-2124G>A)
c.1551G>A (p.Thr517=)
n.3687G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.52028306G>ACA3852947PKHD1c.3410C>T (p.Thr1137Met)
c.2699C>T (p.Thr900Met)
c.3335C>T (p.Thr1112Met)
c.3365-2125C>T (n.3365-2125C>T)
c.1550C>T (p.Thr517Met)
n.3686C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52028306G>CCA3852946PKHD1c.3410C>G (p.Thr1137Arg)
c.2699C>G (p.Thr900Arg)
c.3335C>G (p.Thr1112Arg)
c.3365-2125C>G (n.3365-2125C>G)
c.1550C>G (p.Thr517Arg)
n.3686C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52028306G=CA1628600632PKHD1c.3410C= (p.Thr1137=)
c.2699C= (p.Thr900=)
c.3335C= (p.Thr1112=)
c.3365-2125C= (n.3365-2125C=)
c.1550C= (p.Thr517=)
n.3686C=
6g.52028306G>TCA364440783PKHD1c.3410C>A (p.Thr1137Lys)
c.2699C>A (p.Thr900Lys)
c.3335C>A (p.Thr1112Lys)
c.3365-2125C>A (n.3365-2125C>A)
c.1550C>A (p.Thr517Lys)
n.3686C>A
 dbSNP gnomAD v2 gnomAD v4
6g.52028307T>ACA364440784PKHD1c.3409A>T (p.Thr1137Ser)
c.2698A>T (p.Thr900Ser)
c.3334A>T (p.Thr1112Ser)
c.3365-2126A>T (n.3365-2126A>T)
c.1549A>T (p.Thr517Ser)
n.3685A>T
6g.52028307T>CCA364440786PKHD1c.3409A>G (p.Thr1137Ala)
c.2698A>G (p.Thr900Ala)
c.3334A>G (p.Thr1112Ala)
c.3365-2126A>G (n.3365-2126A>G)
c.1549A>G (p.Thr517Ala)
n.3685A>G
6g.52028307T>GCA364440785PKHD1c.3409A>C (p.Thr1137Pro)
c.2698A>C (p.Thr900Pro)
c.3334A>C (p.Thr1112Pro)
c.3365-2126A>C (n.3365-2126A>C)
c.1549A>C (p.Thr517Pro)
n.3685A>C
6g.52028308A>CCA364440787PKHD1c.3408T>G (p.Tyr1136Ter)
c.2697T>G (p.Tyr899Ter)
c.3333T>G (p.Tyr1111Ter)
c.3365-2127T>G (n.3365-2127T>G)
c.1548T>G (p.Tyr516Ter)
n.3684T>G
6g.52028308A>GCA450615162PKHD1c.3408T>C (p.Tyr1136=)
c.2697T>C (p.Tyr899=)
c.3333T>C (p.Tyr1111=)
c.3365-2127T>C (n.3365-2127T>C)
c.1548T>C (p.Tyr516=)
n.3684T>C
6g.52028308A>TCA364440788PKHD1c.3408T>A (p.Tyr1136Ter)
c.2697T>A (p.Tyr899Ter)
c.3333T>A (p.Tyr1111Ter)
c.3365-2127T>A (n.3365-2127T>A)
c.1548T>A (p.Tyr516Ter)
n.3684T>A
6g.52028309T>ACA364440789PKHD1c.3407A>T (p.Tyr1136Phe)
c.2696A>T (p.Tyr899Phe)
c.3332A>T (p.Tyr1111Phe)
c.3365-2128A>T (n.3365-2128A>T)
c.1547A>T (p.Tyr516Phe)
n.3683A>T
6g.52028309T>CCA180312PKHD1c.3407A>G (p.Tyr1136Cys)
c.2696A>G (p.Tyr899Cys)
c.3332A>G (p.Tyr1111Cys)
c.3365-2128A>G (n.3365-2128A>G)
c.1547A>G (p.Tyr516Cys)
n.3683A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52028309T>GCA364440790PKHD1c.3407A>C (p.Tyr1136Ser)
c.2696A>C (p.Tyr899Ser)
c.3332A>C (p.Tyr1111Ser)
c.3365-2128A>C (n.3365-2128A>C)
c.1547A>C (p.Tyr516Ser)
n.3683A>C
 dbSNP
6g.52028309T=CA1628600643PKHD1c.3407A= (p.Tyr1136=)
c.2696A= (p.Tyr899=)
c.3332A= (p.Tyr1111=)
c.3365-2128A= (n.3365-2128A=)
c.1547A= (p.Tyr516=)
n.3683A=
6g.52028310A=CA1628600650PKHD1c.3406T= (p.Tyr1136=)
c.2695T= (p.Tyr899=)
c.3331T= (p.Tyr1111=)
c.3365-2129T= (n.3365-2129T=)
c.1546T= (p.Tyr516=)
n.3682T=
6g.52028310A>CCA364440791PKHD1c.3406T>G (p.Tyr1136Asp)
c.2695T>G (p.Tyr899Asp)
c.3331T>G (p.Tyr1111Asp)
c.3365-2129T>G (n.3365-2129T>G)
c.1546T>G (p.Tyr516Asp)
n.3682T>G
6g.52028310A>GCA364440792PKHD1c.3406T>C (p.Tyr1136His)
c.2695T>C (p.Tyr899His)
c.3331T>C (p.Tyr1111His)
c.3365-2129T>C (n.3365-2129T>C)
c.1546T>C (p.Tyr516His)
n.3682T>C
 dbSNP gnomAD v2 gnomAD v4
6g.52028310A>TCA3852948PKHD1c.3406T>A (p.Tyr1136Asn)
c.2695T>A (p.Tyr899Asn)
c.3331T>A (p.Tyr1111Asn)
c.3365-2129T>A (n.3365-2129T>A)
c.1546T>A (p.Tyr516Asn)
n.3682T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52028311G>ACA450615163PKHD1c.3405C>T (p.Asn1135=)
c.2694C>T (p.Asn898=)
c.3330C>T (p.Asn1110=)
c.3365-2130C>T (n.3365-2130C>T)
c.1545C>T (p.Asn515=)
n.3681C>T
 ClinVar COSMIC COSMIC
6g.52028311G>CCA364440793PKHD1c.3405C>G (p.Asn1135Lys)
c.2694C>G (p.Asn898Lys)
c.3330C>G (p.Asn1110Lys)
c.3365-2130C>G (n.3365-2130C>G)
c.1545C>G (p.Asn515Lys)
n.3681C>G
6g.52028311G>TCA364440794PKHD1c.3405C>A (p.Asn1135Lys)
c.2694C>A (p.Asn898Lys)
c.3330C>A (p.Asn1110Lys)
c.3365-2130C>A (n.3365-2130C>A)
c.1545C>A (p.Asn515Lys)
n.3681C>A
6g.52028312T>ACA364440795PKHD1c.3404A>T (p.Asn1135Ile)
c.2693A>T (p.Asn898Ile)
c.3329A>T (p.Asn1110Ile)
c.3365-2131A>T (n.3365-2131A>T)
c.1544A>T (p.Asn515Ile)
n.3680A>T
 gnomAD v4
6g.52028312T>CCA3852949PKHD1c.3404A>G (p.Asn1135Ser)
c.2693A>G (p.Asn898Ser)
c.3329A>G (p.Asn1110Ser)
c.3365-2131A>G (n.3365-2131A>G)
c.1544A>G (p.Asn515Ser)
n.3680A>G
 dbSNP ExAC gnomAD v3 gnomAD v4
6g.52028312T>GCA364440796PKHD1c.3404A>C (p.Asn1135Thr)
c.2693A>C (p.Asn898Thr)
c.3329A>C (p.Asn1110Thr)
c.3365-2131A>C (n.3365-2131A>C)
c.1544A>C (p.Asn515Thr)
n.3680A>C
6g.52028312T=CA1628600653PKHD1c.3404A= (p.Asn1135=)
c.2693A= (p.Asn898=)
c.3329A= (p.Asn1110=)
c.3365-2131A= (n.3365-2131A=)
c.1544A= (p.Asn515=)
n.3680A=
6g.52028313T>ACA364440797PKHD1c.3403A>T (p.Asn1135Tyr)
c.2692A>T (p.Asn898Tyr)
c.3328A>T (p.Asn1110Tyr)
c.3365-2132A>T (n.3365-2132A>T)
c.1543A>T (p.Asn515Tyr)
n.3679A>T
6g.52028313T>CCA364440798PKHD1c.3403A>G (p.Asn1135Asp)
c.2692A>G (p.Asn898Asp)
c.3328A>G (p.Asn1110Asp)
c.3365-2132A>G (n.3365-2132A>G)
c.1543A>G (p.Asn515Asp)
n.3679A>G
6g.52028313T>GCA364440799PKHD1c.3403A>C (p.Asn1135His)
c.2692A>C (p.Asn898His)
c.3328A>C (p.Asn1110His)
c.3365-2132A>C (n.3365-2132A>C)
c.1543A>C (p.Asn515His)
n.3679A>C
6g.52028316_52028318delCA2578645443PKHD1c.3401_3403del (p.Met1134del)
c.2690_2692del (p.Met897del)
c.3326_3328del (p.Met1109del)
c.3365-2134_3365-2132del (n.3365-2134_3365-2132del)
c.1541_1543del (p.Met514del)
n.3677_3679del
6g.52028314C>ACA364440802PKHD1c.3402G>T (p.Met1134Ile)
c.2691G>T (p.Met897Ile)
c.3327G>T (p.Met1109Ile)
c.3365-2133G>T (n.3365-2133G>T)
c.1542G>T (p.Met514Ile)
n.3678G>T
6g.52028314C>GCA364440800PKHD1c.3402G>C (p.Met1134Ile)
c.2691G>C (p.Met897Ile)
c.3327G>C (p.Met1109Ile)
c.3365-2133G>C (n.3365-2133G>C)
c.1542G>C (p.Met514Ile)
n.3678G>C
6g.52028314C>TCA364440801PKHD1c.3402G>A (p.Met1134Ile)
c.2691G>A (p.Met897Ile)
c.3327G>A (p.Met1109Ile)
c.3365-2133G>A (n.3365-2133G>A)
c.1542G>A (p.Met514Ile)
n.3678G>A
 ClinVar COSMIC COSMIC
6g.52028315A>CCA364440803PKHD1c.3401T>G (p.Met1134Arg)
c.2690T>G (p.Met897Arg)
c.3326T>G (p.Met1109Arg)
c.3365-2134T>G (n.3365-2134T>G)
c.1541T>G (p.Met514Arg)
n.3677T>G
6g.52028315A>GCA364440804PKHD1c.3401T>C (p.Met1134Thr)
c.2690T>C (p.Met897Thr)
c.3326T>C (p.Met1109Thr)
c.3365-2134T>C (n.3365-2134T>C)
c.1541T>C (p.Met514Thr)
n.3677T>C
6g.52028315A>TCA364440805PKHD1c.3401T>A (p.Met1134Lys)
c.2690T>A (p.Met897Lys)
c.3326T>A (p.Met1109Lys)
c.3365-2134T>A (n.3365-2134T>A)
c.1541T>A (p.Met514Lys)
n.3677T>A
6g.52028316T>ACA364440806PKHD1c.3400A>T (p.Met1134Leu)
c.2689A>T (p.Met897Leu)
c.3325A>T (p.Met1109Leu)
c.3365-2135A>T (n.3365-2135A>T)
c.1540A>T (p.Met514Leu)
n.3676A>T
 dbSNP
6g.52028316T>CCA364440807PKHD1c.3400A>G (p.Met1134Val)
c.2689A>G (p.Met897Val)
c.3325A>G (p.Met1109Val)
c.3365-2135A>G (n.3365-2135A>G)
c.1540A>G (p.Met514Val)
n.3676A>G
6g.52028316T>GCA364440808PKHD1c.3400A>C (p.Met1134Leu)
c.2689A>C (p.Met897Leu)
c.3325A>C (p.Met1109Leu)
c.3365-2135A>C (n.3365-2135A>C)
c.1540A>C (p.Met514Leu)
n.3676A>C
6g.52028316T=CA1628600659PKHD1c.3400A= (p.Met1134=)
c.2689A= (p.Met897=)
c.3325A= (p.Met1109=)
c.3365-2135A= (n.3365-2135A=)
c.1540A= (p.Met514=)
n.3676A=
6g.52028317C>ACA450615167PKHD1c.3399G>T (p.Leu1133=)
c.2688G>T (p.Leu896=)
c.3324G>T (p.Leu1108=)
c.3365-2136G>T (n.3365-2136G>T)
c.1539G>T (p.Leu513=)
n.3675G>T
 dbSNP
6g.52028317C=CA1628600666PKHD1c.3399G= (p.Leu1133=)
c.2688G= (p.Leu896=)
c.3324G= (p.Leu1108=)
c.3365-2136G= (n.3365-2136G=)
c.1539G= (p.Leu513=)
n.3675G=
6g.52028317C>GCA450615168PKHD1c.3399G>C (p.Leu1133=)
c.2688G>C (p.Leu896=)
c.3324G>C (p.Leu1108=)
c.3365-2136G>C (n.3365-2136G>C)
c.1539G>C (p.Leu513=)
n.3675G>C
6g.52028317C>TCA450615169PKHD1c.3399G>A (p.Leu1133=)
c.2688G>A (p.Leu896=)
c.3324G>A (p.Leu1108=)
c.3365-2136G>A (n.3365-2136G>A)
c.1539G>A (p.Leu513=)
n.3675G>A
6g.52028318A>CCA364440809PKHD1c.3398T>G (p.Leu1133Arg)
c.2687T>G (p.Leu896Arg)
c.3323T>G (p.Leu1108Arg)
c.3365-2137T>G (n.3365-2137T>G)
c.1538T>G (p.Leu513Arg)
n.3674T>G
6g.52028318A>GCA364440810PKHD1c.3398T>C (p.Leu1133Pro)
c.2687T>C (p.Leu896Pro)
c.3323T>C (p.Leu1108Pro)
c.3365-2137T>C (n.3365-2137T>C)
c.1538T>C (p.Leu513Pro)
n.3674T>C
6g.52028318A>TCA364440811PKHD1c.3398T>A (p.Leu1133Gln)
c.2687T>A (p.Leu896Gln)
c.3323T>A (p.Leu1108Gln)
c.3365-2137T>A (n.3365-2137T>A)
c.1538T>A (p.Leu513Gln)
n.3674T>A
6g.52028319G>ACA450615170PKHD1c.3397C>T (p.Leu1133=)
c.2686C>T (p.Leu896=)
c.3322C>T (p.Leu1108=)
c.3365-2138C>T (n.3365-2138C>T)
c.1537C>T (p.Leu513=)
n.3673C>T
 ClinVar
6g.52028319G>CCA364440812PKHD1c.3397C>G (p.Leu1133Val)
c.2686C>G (p.Leu896Val)
c.3322C>G (p.Leu1108Val)
c.3365-2138C>G (n.3365-2138C>G)
c.1537C>G (p.Leu513Val)
n.3673C>G
6g.52028319G>TCA364440813PKHD1c.3397C>A (p.Leu1133Met)
c.2686C>A (p.Leu896Met)
c.3322C>A (p.Leu1108Met)
c.3365-2138C>A (n.3365-2138C>A)
c.1537C>A (p.Leu513Met)
n.3673C>A
 gnomAD v4
6g.52028320C>ACA3852950PKHD1c.3396G>T (p.Arg1132Ser)
c.2685G>T (p.Arg895Ser)
c.3321G>T (p.Arg1107Ser)
c.3365-2139G>T (n.3365-2139G>T)
c.1536G>T (p.Arg512Ser)
n.3672G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52028320C=CA1628600670PKHD1c.3396G= (p.Arg1132=)
c.2685G= (p.Arg895=)
c.3321G= (p.Arg1107=)
c.3365-2139G= (n.3365-2139G=)
c.1536G= (p.Arg512=)
n.3672G=
6g.52028320C>GCA364440814PKHD1c.3396G>C (p.Arg1132Ser)
c.2685G>C (p.Arg895Ser)
c.3321G>C (p.Arg1107Ser)
c.3365-2139G>C (n.3365-2139G>C)
c.1536G>C (p.Arg512Ser)
n.3672G>C
6g.52028320C>TCA450615174PKHD1c.3396G>A (p.Arg1132=)
c.2685G>A (p.Arg895=)
c.3321G>A (p.Arg1107=)
c.3365-2139G>A (n.3365-2139G>A)
c.1536G>A (p.Arg512=)
n.3672G>A
 ClinVar
6g.52028321C>ACA364440815PKHD1c.3395G>T (p.Arg1132Met)
c.2684G>T (p.Arg895Met)
c.3320G>T (p.Arg1107Met)
c.3365-2140G>T (n.3365-2140G>T)
c.1535G>T (p.Arg512Met)
n.3671G>T
6g.52028321C=CA1628600673PKHD1c.3395G= (p.Arg1132=)
c.2684G= (p.Arg895=)
c.3320G= (p.Arg1107=)
c.3365-2140G= (n.3365-2140G=)
c.1535G= (p.Arg512=)
n.3671G=
6g.52028321C>GCA364440816PKHD1c.3395G>C (p.Arg1132Thr)
c.2684G>C (p.Arg895Thr)
c.3320G>C (p.Arg1107Thr)
c.3365-2140G>C (n.3365-2140G>C)
c.1535G>C (p.Arg512Thr)
n.3671G>C
6g.52028321C>TCA3852951PKHD1c.3395G>A (p.Arg1132Lys)
c.2684G>A (p.Arg895Lys)
c.3320G>A (p.Arg1107Lys)
c.3365-2140G>A (n.3365-2140G>A)
c.1535G>A (p.Arg512Lys)
n.3671G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52028322T>ACA364440817PKHD1c.3394A>T (p.Arg1132Trp)
c.2683A>T (p.Arg895Trp)
c.3319A>T (p.Arg1107Trp)
c.3365-2141A>T (n.3365-2141A>T)
c.1534A>T (p.Arg512Trp)
n.3670A>T
6g.52028322T>CCA364440818PKHD1c.3394A>G (p.Arg1132Gly)
c.2683A>G (p.Arg895Gly)
c.3319A>G (p.Arg1107Gly)
c.3365-2141A>G (n.3365-2141A>G)
c.1534A>G (p.Arg512Gly)
n.3670A>G
6g.52028322T>GCA450615175PKHD1c.3394A>C (p.Arg1132=)
c.2683A>C (p.Arg895=)
c.3319A>C (p.Arg1107=)
c.3365-2141A>C (n.3365-2141A>C)
c.1534A>C (p.Arg512=)
n.3670A>C
6g.52028323C>ACA450615176PKHD1c.3393G>T (p.Ala1131=)
c.2682G>T (p.Ala894=)
c.3318G>T (p.Ala1106=)
c.3365-2142G>T (n.3365-2142G>T)
c.1533G>T (p.Ala511=)
n.3669G>T
6g.52028323C=CA1628600676PKHD1c.3393G= (p.Ala1131=)
c.2682G= (p.Ala894=)
c.3318G= (p.Ala1106=)
c.3365-2142G= (n.3365-2142G=)
c.1533G= (p.Ala511=)
n.3669G=
6g.52028323C>GCA450615177PKHD1c.3393G>C (p.Ala1131=)
c.2682G>C (p.Ala894=)
c.3318G>C (p.Ala1106=)
c.3365-2142G>C (n.3365-2142G>C)
c.1533G>C (p.Ala511=)
n.3669G>C
6g.52028323C>TCA450615178PKHD1c.3393G>A (p.Ala1131=)
c.2682G>A (p.Ala894=)
c.3318G>A (p.Ala1106=)
c.3365-2142G>A (n.3365-2142G>A)
c.1533G>A (p.Ala511=)
n.3669G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.52028324G>ACA3852952PKHD1c.3392C>T (p.Ala1131Val)
c.2681C>T (p.Ala894Val)
c.3317C>T (p.Ala1106Val)
c.3365-2143C>T (n.3365-2143C>T)
c.1532C>T (p.Ala511Val)
n.3668C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.52028324G>CCA364440820PKHD1c.3392C>G (p.Ala1131Gly)
c.2681C>G (p.Ala894Gly)
c.3317C>G (p.Ala1106Gly)
c.3365-2143C>G (n.3365-2143C>G)
c.1532C>G (p.Ala511Gly)
n.3668C>G
6g.52028324G=CA1628600684PKHD1c.3392C= (p.Ala1131=)
c.2681C= (p.Ala894=)
c.3317C= (p.Ala1106=)
c.3365-2143C= (n.3365-2143C=)
c.1532C= (p.Ala511=)
n.3668C=
6g.52028324G>TCA364440819PKHD1c.3392C>A (p.Ala1131Glu)
c.2681C>A (p.Ala894Glu)
c.3317C>A (p.Ala1106Glu)
c.3365-2143C>A (n.3365-2143C>A)
c.1532C>A (p.Ala511Glu)
n.3668C>A
6g.52028325C>ACA364440821PKHD1c.3391G>T (p.Ala1131Ser)
c.2680G>T (p.Ala894Ser)
c.3316G>T (p.Ala1106Ser)
c.3365-2144G>T (n.3365-2144G>T)
c.1531G>T (p.Ala511Ser)
n.3667G>T
6g.52028325C>GCA364440822PKHD1c.3391G>C (p.Ala1131Pro)
c.2680G>C (p.Ala894Pro)
c.3316G>C (p.Ala1106Pro)
c.3365-2144G>C (n.3365-2144G>C)
c.1531G>C (p.Ala511Pro)
n.3667G>C
6g.52028325C>TCA364440823PKHD1c.3391G>A (p.Ala1131Thr)
c.2680G>A (p.Ala894Thr)
c.3316G>A (p.Ala1106Thr)
c.3365-2144G>A (n.3365-2144G>A)
c.1531G>A (p.Ala511Thr)
n.3667G>A
6g.52028326C>ACA450615181PKHD1c.3390G>T (p.Val1130=)
c.2679G>T (p.Val893=)
c.3315G>T (p.Val1105=)
c.3365-2145G>T (n.3365-2145G>T)
c.1530G>T (p.Val510=)
n.3666G>T
6g.52028326C=CA1628600691PKHD1c.3390G= (p.Val1130=)
c.2679G= (p.Val893=)
c.3315G= (p.Val1105=)
c.3365-2145G= (n.3365-2145G=)
c.1530G= (p.Val510=)
n.3666G=
6g.52028326C>GCA450615183PKHD1c.3390G>C (p.Val1130=)
c.2679G>C (p.Val893=)
c.3315G>C (p.Val1105=)
c.3365-2145G>C (n.3365-2145G>C)
c.1530G>C (p.Val510=)
n.3666G>C
6g.52028326C>TCA450615180PKHD1c.3390G>A (p.Val1130=)
c.2679G>A (p.Val893=)
c.3315G>A (p.Val1105=)
c.3365-2145G>A (n.3365-2145G>A)
c.1530G>A (p.Val510=)
n.3666G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52028327A>CCA364440824PKHD1c.3389T>G (p.Val1130Gly)
c.2678T>G (p.Val893Gly)
c.3314T>G (p.Val1105Gly)
c.3365-2146T>G (n.3365-2146T>G)
c.1529T>G (p.Val510Gly)
n.3665T>G
6g.52028327A>GCA364440825PKHD1c.3389T>C (p.Val1130Ala)
c.2678T>C (p.Val893Ala)
c.3314T>C (p.Val1105Ala)
c.3365-2146T>C (n.3365-2146T>C)
c.1529T>C (p.Val510Ala)
n.3665T>C
6g.52028327A>TCA364440826PKHD1c.3389T>A (p.Val1130Glu)
c.2678T>A (p.Val893Glu)
c.3314T>A (p.Val1105Glu)
c.3365-2146T>A (n.3365-2146T>A)
c.1529T>A (p.Val510Glu)
n.3665T>A
6g.52028328C>ACA364440827PKHD1c.3388G>T (p.Val1130Leu)
c.2677G>T (p.Val893Leu)
c.3313G>T (p.Val1105Leu)
c.3365-2147G>T (n.3365-2147G>T)
c.1528G>T (p.Val510Leu)
n.3664G>T
6g.52028328C>GCA364440829PKHD1c.3388G>C (p.Val1130Leu)
c.2677G>C (p.Val893Leu)
c.3313G>C (p.Val1105Leu)
c.3365-2147G>C (n.3365-2147G>C)
c.1528G>C (p.Val510Leu)
n.3664G>C
6g.52028328C>TCA364440828PKHD1c.3388G>A (p.Val1130Met)
c.2677G>A (p.Val893Met)
c.3313G>A (p.Val1105Met)
c.3365-2147G>A (n.3365-2147G>A)
c.1528G>A (p.Val510Met)
n.3664G>A
 gnomAD v4
6g.52028329T>ACA450615186PKHD1c.3387A>T (p.Gly1129=)
c.2676A>T (p.Gly892=)
c.3312A>T (p.Gly1104=)
c.3365-2148A>T (n.3365-2148A>T)
c.1527A>T (p.Gly509=)
n.3663A>T
6g.52028329T>CCA450615187PKHD1c.3387A>G (p.Gly1129=)
c.2676A>G (p.Gly892=)
c.3312A>G (p.Gly1104=)
c.3365-2148A>G (n.3365-2148A>G)
c.1527A>G (p.Gly509=)
n.3663A>G
6g.52028329T>GCA450615188PKHD1c.3387A>C (p.Gly1129=)
c.2676A>C (p.Gly892=)
c.3312A>C (p.Gly1104=)
c.3365-2148A>C (n.3365-2148A>C)
c.1527A>C (p.Gly509=)
n.3663A>C
6g.52028330C>ACA364440830PKHD1c.3386G>T (p.Gly1129Val)
c.2675G>T (p.Gly892Val)
c.3311G>T (p.Gly1104Val)
c.3365-2149G>T (n.3365-2149G>T)
c.1526G>T (p.Gly509Val)
n.3662G>T
6g.52028330C>GCA364440831PKHD1c.3386G>C (p.Gly1129Ala)
c.2675G>C (p.Gly892Ala)
c.3311G>C (p.Gly1104Ala)
c.3365-2149G>C (n.3365-2149G>C)
c.1526G>C (p.Gly509Ala)
n.3662G>C
6g.52028330C>TCA364440832PKHD1c.3386G>A (p.Gly1129Glu)
c.2675G>A (p.Gly892Glu)
c.3311G>A (p.Gly1104Glu)
c.3365-2149G>A (n.3365-2149G>A)
c.1526G>A (p.Gly509Glu)
n.3662G>A
6g.52028331C>ACA364440833PKHD1c.3385G>T (p.Gly1129Ter)
c.2674G>T (p.Gly892Ter)
c.3310G>T (p.Gly1104Ter)
c.3365-2150G>T (n.3365-2150G>T)
c.1525G>T (p.Gly509Ter)
n.3661G>T
6g.52028331C>GCA364440834PKHD1c.3385G>C (p.Gly1129Arg)
c.2674G>C (p.Gly892Arg)
c.3310G>C (p.Gly1104Arg)
c.3365-2150G>C (n.3365-2150G>C)
c.1525G>C (p.Gly509Arg)
n.3661G>C
6g.52028331C>TCA364440835PKHD1c.3385G>A (p.Gly1129Arg)
c.2674G>A (p.Gly892Arg)
c.3310G>A (p.Gly1104Arg)
c.3365-2150G>A (n.3365-2150G>A)
c.1525G>A (p.Gly509Arg)
n.3661G>A
6g.52028332A=CA1628600695PKHD1c.3384T= (p.Ile1128=)
c.2673T= (p.Ile891=)
c.3309T= (p.Ile1103=)
c.3365-2151T= (n.3365-2151T=)
c.1524T= (p.Ile508=)
n.3660T=
6g.52028332A>CCA364440837PKHD1c.3384T>G (p.Ile1128Met)
c.2673T>G (p.Ile891Met)
c.3309T>G (p.Ile1103Met)
c.3365-2151T>G (n.3365-2151T>G)
c.1524T>G (p.Ile508Met)
n.3660T>G
6g.52028332A>GCA450615189PKHD1c.3384T>C (p.Ile1128=)
c.2673T>C (p.Ile891=)
c.3309T>C (p.Ile1103=)
c.3365-2151T>C (n.3365-2151T>C)
c.1524T>C (p.Ile508=)
n.3660T>C
 ClinVar gnomAD v4
6g.52028332A>TCA3852953PKHD1c.3384T>A (p.Ile1128=)
c.2673T>A (p.Ile891=)
c.3309T>A (p.Ile1103=)
c.3365-2151T>A (n.3365-2151T>A)
c.1524T>A (p.Ile508=)
n.3660T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52028333A=CA1628600702PKHD1c.3383T= (p.Ile1128=)
c.2672T= (p.Ile891=)
c.3308T= (p.Ile1103=)
c.3365-2152T= (n.3365-2152T=)
c.1523T= (p.Ile508=)
n.3659T=
6g.52028333A>CCA138949583PKHD1c.3383T>G (p.Ile1128Ser)
c.2672T>G (p.Ile891Ser)
c.3308T>G (p.Ile1103Ser)
c.3365-2152T>G (n.3365-2152T>G)
c.1523T>G (p.Ile508Ser)
n.3659T>G
 dbSNP
6g.52028333A>GCA3852954PKHD1c.3383T>C (p.Ile1128Thr)
c.2672T>C (p.Ile891Thr)
c.3308T>C (p.Ile1103Thr)
c.3365-2152T>C (n.3365-2152T>C)
c.1523T>C (p.Ile508Thr)
n.3659T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52028333A>TCA364440841PKHD1c.3383T>A (p.Ile1128Asn)
c.2672T>A (p.Ile891Asn)
c.3308T>A (p.Ile1103Asn)
c.3365-2152T>A (n.3365-2152T>A)
c.1523T>A (p.Ile508Asn)
n.3659T>A
6g.52028334T>ACA364440843PKHD1c.3382A>T (p.Ile1128Phe)
c.2671A>T (p.Ile891Phe)
c.3307A>T (p.Ile1103Phe)
c.3365-2153A>T (n.3365-2153A>T)
c.1522A>T (p.Ile508Phe)
n.3658A>T
6g.52028334T>CCA364440844PKHD1c.3382A>G (p.Ile1128Val)
c.2671A>G (p.Ile891Val)
c.3307A>G (p.Ile1103Val)
c.3365-2153A>G (n.3365-2153A>G)
c.1522A>G (p.Ile508Val)
n.3658A>G
6g.52028334T>GCA364440842PKHD1c.3382A>C (p.Ile1128Leu)
c.2671A>C (p.Ile891Leu)
c.3307A>C (p.Ile1103Leu)
c.3365-2153A>C (n.3365-2153A>C)
c.1522A>C (p.Ile508Leu)
n.3658A>C
6g.52028335G>ACA3852955PKHD1c.3381C>T (p.Val1127=)
c.2670C>T (p.Val890=)
c.3306C>T (p.Val1102=)
c.3365-2154C>T (n.3365-2154C>T)
c.1521C>T (p.Val507=)
n.3657C>T
 ClinVar dbSNP ExAC gnomAD v2 COSMIC COSMIC
6g.52028335G>CCA450615191PKHD1c.3381C>G (p.Val1127=)
c.2670C>G (p.Val890=)
c.3306C>G (p.Val1102=)
c.3365-2154C>G (n.3365-2154C>G)
c.1521C>G (p.Val507=)
n.3657C>G
6g.52028335G=CA1628600708PKHD1c.3381C= (p.Val1127=)
c.2670C= (p.Val890=)
c.3306C= (p.Val1102=)
c.3365-2154C= (n.3365-2154C=)
c.1521C= (p.Val507=)
n.3657C=
6g.52028335G>TCA450615192PKHD1c.3381C>A (p.Val1127=)
c.2670C>A (p.Val890=)
c.3306C>A (p.Val1102=)
c.3365-2154C>A (n.3365-2154C>A)
c.1521C>A (p.Val507=)
n.3657C>A
 gnomAD v4 COSMIC COSMIC
6g.52028336A=CA1628600713PKHD1c.3380T= (p.Val1127=)
c.2669T= (p.Val890=)
c.3305T= (p.Val1102=)
c.3365-2155T= (n.3365-2155T=)
c.1520T= (p.Val507=)
n.3656T=
6g.52028336A>CCA364440845PKHD1c.3380T>G (p.Val1127Gly)
c.2669T>G (p.Val890Gly)
c.3305T>G (p.Val1102Gly)
c.3365-2155T>G (n.3365-2155T>G)
c.1520T>G (p.Val507Gly)
n.3656T>G
 dbSNP
6g.52028336A>GCA364440846PKHD1c.3380T>C (p.Val1127Ala)
c.2669T>C (p.Val890Ala)
c.3305T>C (p.Val1102Ala)
c.3365-2155T>C (n.3365-2155T>C)
c.1520T>C (p.Val507Ala)
n.3656T>C
 gnomAD v4 COSMIC COSMIC
6g.52028336A>TCA364440848PKHD1c.3380T>A (p.Val1127Asp)
c.2669T>A (p.Val890Asp)
c.3305T>A (p.Val1102Asp)
c.3365-2155T>A (n.3365-2155T>A)
c.1520T>A (p.Val507Asp)
n.3656T>A
6g.52028337C>ACA364440850PKHD1c.3379G>T (p.Val1127Phe)
c.2668G>T (p.Val890Phe)
c.3304G>T (p.Val1102Phe)
c.3365-2156G>T (n.3365-2156G>T)
c.1519G>T (p.Val507Phe)
n.3655G>T
6g.52028337C=CA1628600720PKHD1c.3379G= (p.Val1127=)
c.2668G= (p.Val890=)
c.3304G= (p.Val1102=)
c.3365-2156G= (n.3365-2156G=)
c.1519G= (p.Val507=)
n.3655G=
6g.52028337C>GCA364440852PKHD1c.3379G>C (p.Val1127Leu)
c.2668G>C (p.Val890Leu)
c.3304G>C (p.Val1102Leu)
c.3365-2156G>C (n.3365-2156G>C)
c.1519G>C (p.Val507Leu)
n.3655G>C
6g.52028337C>TCA364440854PKHD1c.3379G>A (p.Val1127Ile)
c.2668G>A (p.Val890Ile)
c.3304G>A (p.Val1102Ile)
c.3365-2156G>A (n.3365-2156G>A)
c.1519G>A (p.Val507Ile)
n.3655G>A
 dbSNP
6g.52028338C>ACA450615195PKHD1c.3378G>T (p.Leu1126=)
c.2667G>T (p.Leu889=)
c.3303G>T (p.Leu1101=)
c.3365-2157G>T (n.3365-2157G>T)
c.1518G>T (p.Leu506=)
n.3654G>T
6g.52028338C>GCA450615196PKHD1c.3378G>C (p.Leu1126=)
c.2667G>C (p.Leu889=)
c.3303G>C (p.Leu1101=)
c.3365-2157G>C (n.3365-2157G>C)
c.1518G>C (p.Leu506=)
n.3654G>C
 gnomAD v4
6g.52028338C>TCA450615197PKHD1c.3378G>A (p.Leu1126=)
c.2667G>A (p.Leu889=)
c.3303G>A (p.Leu1101=)
c.3365-2157G>A (n.3365-2157G>A)
c.1518G>A (p.Leu506=)
n.3654G>A
6g.52028339A=CA1628600721PKHD1c.3377T= (p.Leu1126=)
c.2666T= (p.Leu889=)
c.3302T= (p.Leu1101=)
c.3365-2158T= (n.3365-2158T=)
c.1517T= (p.Leu506=)
n.3653T=
6g.52028339A>CCA364440858PKHD1c.3377T>G (p.Leu1126Arg)
c.2666T>G (p.Leu889Arg)
c.3302T>G (p.Leu1101Arg)
c.3365-2158T>G (n.3365-2158T>G)
c.1517T>G (p.Leu506Arg)
n.3653T>G
6g.52028339A>GCA3852956PKHD1c.3377T>C (p.Leu1126Pro)
c.2666T>C (p.Leu889Pro)
c.3302T>C (p.Leu1101Pro)
c.3365-2158T>C (n.3365-2158T>C)
c.1517T>C (p.Leu506Pro)
n.3653T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52028339A>TCA364440857PKHD1c.3377T>A (p.Leu1126Gln)
c.2666T>A (p.Leu889Gln)
c.3302T>A (p.Leu1101Gln)
c.3365-2158T>A (n.3365-2158T>A)
c.1517T>A (p.Leu506Gln)
n.3653T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52028340G>ACA450615198PKHD1c.3376C>T (p.Leu1126=)
c.2665C>T (p.Leu889=)
c.3301C>T (p.Leu1101=)
c.3365-2159C>T (n.3365-2159C>T)
c.1516C>T (p.Leu506=)
n.3652C>T
6g.52028340G>CCA364440860PKHD1c.3376C>G (p.Leu1126Val)
c.2665C>G (p.Leu889Val)
c.3301C>G (p.Leu1101Val)
c.3365-2159C>G (n.3365-2159C>G)
c.1516C>G (p.Leu506Val)
n.3652C>G
6g.52028340G>TCA364440862PKHD1c.3376C>A (p.Leu1126Met)
c.2665C>A (p.Leu889Met)
c.3301C>A (p.Leu1101Met)
c.3365-2159C>A (n.3365-2159C>A)
c.1516C>A (p.Leu506Met)
n.3652C>A
6g.52028341G>ACA450615200PKHD1c.3375C>T (p.Thr1125=)
c.2664C>T (p.Thr888=)
c.3300C>T (p.Thr1100=)
c.3365-2160C>T (n.3365-2160C>T)
c.1515C>T (p.Thr505=)
n.3651C>T
 ClinVar dbSNP
6g.52028341G>CCA450615201PKHD1c.3375C>G (p.Thr1125=)
c.2664C>G (p.Thr888=)
c.3300C>G (p.Thr1100=)
c.3365-2160C>G (n.3365-2160C>G)
c.1515C>G (p.Thr505=)
n.3651C>G
6g.52028341G>TCA450615202PKHD1c.3375C>A (p.Thr1125=)
c.2664C>A (p.Thr888=)
c.3300C>A (p.Thr1100=)
c.3365-2160C>A (n.3365-2160C>A)
c.1515C>A (p.Thr505=)
n.3651C>A
6g.52028342G>ACA364440865PKHD1c.3374C>T (p.Thr1125Ile)
c.2663C>T (p.Thr888Ile)
c.3299C>T (p.Thr1100Ile)
c.3365-2161C>T (n.3365-2161C>T)
c.1514C>T (p.Thr505Ile)
n.3650C>T
 COSMIC COSMIC
6g.52028342G>CCA364440867PKHD1c.3374C>G (p.Thr1125Ser)
c.2663C>G (p.Thr888Ser)
c.3299C>G (p.Thr1100Ser)
c.3365-2161C>G (n.3365-2161C>G)
c.1514C>G (p.Thr505Ser)
n.3650C>G
6g.52028342G=CA1628600725PKHD1c.3374C= (p.Thr1125=)
c.2663C= (p.Thr888=)
c.3299C= (p.Thr1100=)
c.3365-2161C= (n.3365-2161C=)
c.1514C= (p.Thr505=)
n.3650C=
6g.52028342G>TCA3852957PKHD1c.3374C>A (p.Thr1125Asn)
c.2663C>A (p.Thr888Asn)
c.3299C>A (p.Thr1100Asn)
c.3365-2161C>A (n.3365-2161C>A)
c.1514C>A (p.Thr505Asn)
n.3650C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52028343T>ACA364440869PKHD1c.3373A>T (p.Thr1125Ser)
c.2662A>T (p.Thr888Ser)
c.3298A>T (p.Thr1100Ser)
c.3365-2162A>T (n.3365-2162A>T)
c.1513A>T (p.Thr505Ser)
n.3649A>T
6g.52028343T>CCA3852959PKHD1c.3373A>G (p.Thr1125Ala)
c.2662A>G (p.Thr888Ala)
c.3298A>G (p.Thr1100Ala)
c.3365-2162A>G (n.3365-2162A>G)
c.1513A>G (p.Thr505Ala)
n.3649A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.52028343T>GCA3852958PKHD1c.3373A>C (p.Thr1125Pro)
c.2662A>C (p.Thr888Pro)
c.3298A>C (p.Thr1100Pro)
c.3365-2162A>C (n.3365-2162A>C)
c.1513A>C (p.Thr505Pro)
n.3649A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52028343T=CA1628600735PKHD1c.3373A= (p.Thr1125=)
c.2662A= (p.Thr888=)
c.3298A= (p.Thr1100=)
c.3365-2162A= (n.3365-2162A=)
c.1513A= (p.Thr505=)
n.3649A=
6g.52028344C>ACA3852960PKHD1c.3372G>T (p.Glu1124Asp)
c.2661G>T (p.Glu887Asp)
c.3297G>T (p.Glu1099Asp)
c.3365-2163G>T (n.3365-2163G>T)
c.1512G>T (p.Glu504Asp)
n.3648G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52028344C=CA1628600753PKHD1c.3372G= (p.Glu1124=)
c.2661G= (p.Glu887=)
c.3297G= (p.Glu1099=)
c.3365-2163G= (n.3365-2163G=)
c.1512G= (p.Glu504=)
n.3648G=
6g.52028344C>GCA364440872PKHD1c.3372G>C (p.Glu1124Asp)
c.2661G>C (p.Glu887Asp)
c.3297G>C (p.Glu1099Asp)
c.3365-2163G>C (n.3365-2163G>C)
c.1512G>C (p.Glu504Asp)
n.3648G>C
6g.52028344C>TCA450615203PKHD1c.3372G>A (p.Glu1124=)
c.2661G>A (p.Glu887=)
c.3297G>A (p.Glu1099=)
c.3365-2163G>A (n.3365-2163G>A)
c.1512G>A (p.Glu504=)
n.3648G>A
 ClinVar dbSNP
6g.52028345T>ACA364440873PKHD1c.3371A>T (p.Glu1124Val)
c.2660A>T (p.Glu887Val)
c.3296A>T (p.Glu1099Val)
c.3365-2164A>T (n.3365-2164A>T)
c.1511A>T (p.Glu504Val)
n.3647A>T
6g.52028345T>CCA364440874PKHD1c.3371A>G (p.Glu1124Gly)
c.2660A>G (p.Glu887Gly)
c.3296A>G (p.Glu1099Gly)
c.3365-2164A>G (n.3365-2164A>G)
c.1511A>G (p.Glu504Gly)
n.3647A>G
 dbSNP
6g.52028345T>GCA364440876PKHD1c.3371A>C (p.Glu1124Ala)
c.2660A>C (p.Glu887Ala)
c.3296A>C (p.Glu1099Ala)
c.3365-2164A>C (n.3365-2164A>C)
c.1511A>C (p.Glu504Ala)
n.3647A>C
6g.52028345T=CA1628600761PKHD1c.3371A= (p.Glu1124=)
c.2660A= (p.Glu887=)
c.3296A= (p.Glu1099=)
c.3365-2164A= (n.3365-2164A=)
c.1511A= (p.Glu504=)
n.3647A=
6g.52028346C>ACA364440878PKHD1c.3370G>T (p.Glu1124Ter)
c.2659G>T (p.Glu887Ter)
c.3295G>T (p.Glu1099Ter)
c.3365-2165G>T (n.3365-2165G>T)
c.1510G>T (p.Glu504Ter)
n.3646G>T
6g.52028346C>GCA364440880PKHD1c.3370G>C (p.Glu1124Gln)
c.2659G>C (p.Glu887Gln)
c.3295G>C (p.Glu1099Gln)
c.3365-2165G>C (n.3365-2165G>C)
c.1510G>C (p.Glu504Gln)
n.3646G>C
6g.52028346C>TCA364440881PKHD1c.3370G>A (p.Glu1124Lys)
c.2659G>A (p.Glu887Lys)
c.3295G>A (p.Glu1099Lys)
c.3365-2165G>A (n.3365-2165G>A)
c.1510G>A (p.Glu504Lys)
n.3646G>A
6g.52028347_52028348delCA2580075522PKHD1c.3369_3370del (p.Glu1124AspfsTer?)
c.2658_2659del (p.Glu887AspfsTer?)
c.3294_3295del (p.Glu1099AspfsTer?)
c.3365-2166_3365-2165del (n.3365-2166_3365-2165del)
c.1509_1510del (p.Glu504AspfsTer?)
n.3645_3646del
 ClinVar
6g.52028347A=CA1628600763PKHD1c.3369T= (p.Gly1123=)
c.2658T= (p.Gly886=)
c.3294T= (p.Gly1098=)
c.3365-2166T= (n.3365-2166T=)
c.1509T= (p.Gly503=)
n.3645T=
6g.52028347A>CCA450615210PKHD1c.3369T>G (p.Gly1123=)
c.2658T>G (p.Gly886=)
c.3294T>G (p.Gly1098=)
c.3365-2166T>G (n.3365-2166T>G)
c.1509T>G (p.Gly503=)
n.3645T>G
 dbSNP gnomAD v4
6g.52028347A>GCA450615209PKHD1c.3369T>C (p.Gly1123=)
c.2658T>C (p.Gly886=)
c.3294T>C (p.Gly1098=)
c.3365-2166T>C (n.3365-2166T>C)
c.1509T>C (p.Gly503=)
n.3645T>C
6g.52028347A>TCA450615208PKHD1c.3369T>A (p.Gly1123=)
c.2658T>A (p.Gly886=)
c.3294T>A (p.Gly1098=)
c.3365-2166T>A (n.3365-2166T>A)
c.1509T>A (p.Gly503=)
n.3645T>A
6g.52028348C>ACA364440883PKHD1c.3368G>T (p.Gly1123Val)
c.2657G>T (p.Gly886Val)
c.3293G>T (p.Gly1098Val)
c.3365-2167G>T (n.3365-2167G>T)
c.1508G>T (p.Gly503Val)
n.3644G>T
6g.52028348C=CA1628600768PKHD1c.3368G= (p.Gly1123=)
c.2657G= (p.Gly886=)
c.3293G= (p.Gly1098=)
c.3365-2167G= (n.3365-2167G=)
c.1508G= (p.Gly503=)
n.3644G=
6g.52028348C>GCA364440885PKHD1c.3368G>C (p.Gly1123Ala)
c.2657G>C (p.Gly886Ala)
c.3293G>C (p.Gly1098Ala)
c.3365-2167G>C (n.3365-2167G>C)
c.1508G>C (p.Gly503Ala)
n.3644G>C
6g.52028348C>TCA3852961PKHD1c.3368G>A (p.Gly1123Asp)
c.2657G>A (p.Gly886Asp)
c.3293G>A (p.Gly1098Asp)
c.3365-2167G>A (n.3365-2167G>A)
c.1508G>A (p.Gly503Asp)
n.3644G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52028349C>ACA364440890PKHD1c.3367G>T (p.Gly1123Cys)
c.2656G>T (p.Gly886Cys)
c.3292G>T (p.Gly1098Cys)
c.3365-2168G>T (n.3365-2168G>T)
c.1507G>T (p.Gly503Cys)
n.3643G>T
 gnomAD v4
6g.52028349C=CA1628600772PKHD1c.3367G= (p.Gly1123=)
c.2656G= (p.Gly886=)
c.3292G= (p.Gly1098=)
c.3365-2168G= (n.3365-2168G=)
c.1507G= (p.Gly503=)
n.3643G=
6g.52028349C>GCA364440889PKHD1c.3367G>C (p.Gly1123Arg)
c.2656G>C (p.Gly886Arg)
c.3292G>C (p.Gly1098Arg)
c.3365-2168G>C (n.3365-2168G>C)
c.1507G>C (p.Gly503Arg)
n.3643G>C
6g.52028349C>TCA274186PKHD1c.3367G>A (p.Gly1123Ser)
c.2656G>A (p.Gly886Ser)
c.3292G>A (p.Gly1098Ser)
c.3365-2168G>A (n.3365-2168G>A)
c.1507G>A (p.Gly503Ser)
n.3643G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.52028350G>ACA3852962PKHD1c.3366C>T (p.Gly1122=)
c.2655C>T (p.Gly885=)
c.3291C>T (p.Gly1097=)
c.3365-2169C>T (n.3365-2169C>T)
c.1506C>T (p.Gly502=)
n.3642C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52028350G>CCA450615212PKHD1c.3366C>G (p.Gly1122=)
c.2655C>G (p.Gly885=)
c.3291C>G (p.Gly1097=)
c.3365-2169C>G (n.3365-2169C>G)
c.1506C>G (p.Gly502=)
n.3642C>G
6g.52028350G=CA1628600777PKHD1c.3366C= (p.Gly1122=)
c.2655C= (p.Gly885=)
c.3291C= (p.Gly1097=)
c.3365-2169C= (n.3365-2169C=)
c.1506C= (p.Gly502=)
n.3642C=
6g.52028350G>TCA138949693PKHD1c.3366C>A (p.Gly1122=)
c.2655C>A (p.Gly885=)
c.3291C>A (p.Gly1097=)
c.3365-2169C>A (n.3365-2169C>A)
c.1506C>A (p.Gly502=)
n.3642C>A
 dbSNP gnomAD v4
6g.52028351C>ACA364440892PKHD1c.3365G>T (p.Gly1122Val)
c.2654G>T (p.Gly885Val)
c.3290G>T (p.Gly1097Val)
c.3365-2170G>T (n.3365-2170G>T)
c.1505G>T (p.Gly502Val)
n.3641G>T
6g.52028351C>GCA364440893PKHD1c.3365G>C (p.Gly1122Ala)
c.2654G>C (p.Gly885Ala)
c.3290G>C (p.Gly1097Ala)
c.3365-2170G>C (n.3365-2170G>C)
c.1505G>C (p.Gly502Ala)
n.3641G>C
6g.52028351C>TCA364440894PKHD1c.3365G>A (p.Gly1122Asp)
c.2654G>A (p.Gly885Asp)
c.3290G>A (p.Gly1097Asp)
c.3365-2170G>A (n.3365-2170G>A)
c.1505G>A (p.Gly502Asp)
n.3641G>A
 gnomAD v4
6g.52028352C>ACA364440897PKHD1c.3365-1G>T (n.3365-1G>T)
c.2654-1G>T (n.2654-1G>T)
c.3290-1G>T (n.3290-1G>T)
c.3365-2171G>T (n.3365-2171G>T)
c.1505-1G>T (n.1505-1G>T)
n.3641-1G>T
6g.52028352C>GCA364440898PKHD1c.3365-1G>C (n.3365-1G>C)
c.2654-1G>C (n.2654-1G>C)
c.3290-1G>C (n.3290-1G>C)
c.3365-2171G>C (n.3365-2171G>C)
c.1505-1G>C (n.1505-1G>C)
n.3641-1G>C
6g.52028352C>TCA364440900PKHD1c.3365-1G>A (n.3365-1G>A)
c.2654-1G>A (n.2654-1G>A)
c.3290-1G>A (n.3290-1G>A)
c.3365-2171G>A (n.3365-2171G>A)
c.1505-1G>A (n.1505-1G>A)
n.3641-1G>A
6g.52028353T>ACA364440902PKHD1c.3365-2A>T (n.3365-2A>T)
c.2654-2A>T (n.2654-2A>T)
c.3290-2A>T (n.3290-2A>T)
c.3365-2172A>T (n.3365-2172A>T)
c.1505-2A>T (n.1505-2A>T)
n.3641-2A>T
6g.52028353T>CCA364440904PKHD1c.3365-2A>G (n.3365-2A>G)
c.2654-2A>G (n.2654-2A>G)
c.3290-2A>G (n.3290-2A>G)
c.3365-2172A>G (n.3365-2172A>G)
c.1505-2A>G (n.1505-2A>G)
n.3641-2A>G
6g.52028353T>GCA364440906PKHD1c.3365-2A>C (n.3365-2A>C)
c.2654-2A>C (n.2654-2A>C)
c.3290-2A>C (n.3290-2A>C)
c.3365-2172A>C (n.3365-2172A>C)
c.1505-2A>C (n.1505-2A>C)
n.3641-2A>C
6g.52028354G>ACA2573140952PKHD1c.3365-3C>T (n.3365-3C>T)
c.2654-3C>T (n.2654-3C>T)
c.3290-3C>T (n.3290-3C>T)
c.3365-2173C>T (n.3365-2173C>T)
c.1505-3C>T (n.1505-3C>T)
n.3641-3C>T
 ClinVar dbSNP
6g.52028355T>GCA450615216PKHD1c.3365-4A>C (n.3365-4A>C)
c.2654-4A>C (n.2654-4A>C)
c.3290-4A>C (n.3290-4A>C)
c.3365-2174A>C (n.3365-2174A>C)
c.1505-4A>C (n.1505-4A>C)
n.3641-4A>C
6g.52028356G>ACA3852963PKHD1c.3365-5C>T (n.3365-5C>T)
c.2654-5C>T (n.2654-5C>T)
c.3290-5C>T (n.3290-5C>T)
c.3365-2175C>T (n.3365-2175C>T)
c.1505-5C>T (n.1505-5C>T)
n.3641-5C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.52028356G=CA1628600781PKHD1c.3365-5C= (n.3365-5C=)
c.2654-5C= (n.2654-5C=)
c.3290-5C= (n.3290-5C=)
c.3365-2175C= (n.3365-2175C=)
c.1505-5C= (n.1505-5C=)
n.3641-5C=
6g.52028356G>TCA2679082713PKHD1c.3365-5C>A (n.3365-5C>A)
c.2654-5C>A (n.2654-5C>A)
c.3290-5C>A (n.3290-5C>A)
c.3365-2175C>A (n.3365-2175C>A)
c.1505-5C>A (n.1505-5C>A)
n.3641-5C>A
 gnomAD v4
6g.52028361G>ACA825738516PKHD1c.3365-10C>T (n.3365-10C>T)
c.2654-10C>T (n.2654-10C>T)
c.3290-10C>T (n.3290-10C>T)
c.3365-2180C>T (n.3365-2180C>T)
c.1505-10C>T (n.1505-10C>T)
n.3641-10C>T
 dbSNP gnomAD v3 gnomAD v4
6g.52028361G=CA1628600784PKHD1c.3365-10C= (n.3365-10C=)
c.2654-10C= (n.2654-10C=)
c.3290-10C= (n.3290-10C=)
c.3365-2180C= (n.3365-2180C=)
c.1505-10C= (n.1505-10C=)
n.3641-10C=
6g.52028365A=CA1628600787PKHD1c.3365-14T= (n.3365-14T=)
c.2654-14T= (n.2654-14T=)
c.3290-14T= (n.3290-14T=)
c.3365-2184T= (n.3365-2184T=)
c.1505-14T= (n.1505-14T=)
n.3641-14T=
6g.52028365A>GCA3852964PKHD1c.3365-14T>C (n.3365-14T>C)
c.2654-14T>C (n.2654-14T>C)
c.3290-14T>C (n.3290-14T>C)
c.3365-2184T>C (n.3365-2184T>C)
c.1505-14T>C (n.1505-14T>C)
n.3641-14T>C
 dbSNP ExAC gnomAD v2
6g.52028367T>ACA2679082714PKHD1c.3365-16A>T (n.3365-16A>T)
c.2654-16A>T (n.2654-16A>T)
c.3290-16A>T (n.3290-16A>T)
c.3365-2186A>T (n.3365-2186A>T)
c.1505-16A>T (n.1505-16A>T)
n.3641-16A>T
 ClinVar gnomAD v4
6g.52028370A=CA1628600791PKHD1c.3365-19T= (n.3365-19T=)
c.2654-19T= (n.2654-19T=)
c.3290-19T= (n.3290-19T=)
c.3365-2189T= (n.3365-2189T=)
c.1505-19T= (n.1505-19T=)
n.3641-19T=
6g.52028370A>GCA138949707PKHD1c.3365-19T>C (n.3365-19T>C)
c.2654-19T>C (n.2654-19T>C)
c.3290-19T>C (n.3290-19T>C)
c.3365-2189T>C (n.3365-2189T>C)
c.1505-19T>C (n.1505-19T>C)
n.3641-19T>C
 ClinVar dbSNP
6g.52028371A=CA1628600795PKHD1c.3365-20T= (n.3365-20T=)
c.2654-20T= (n.2654-20T=)
c.3290-20T= (n.3290-20T=)
c.3365-2190T= (n.3365-2190T=)
c.1505-20T= (n.1505-20T=)
n.3641-20T=
6g.52028371A>GCA138949712PKHD1c.3365-20T>C (n.3365-20T>C)
c.2654-20T>C (n.2654-20T>C)
c.3290-20T>C (n.3290-20T>C)
c.3365-2190T>C (n.3365-2190T>C)
c.1505-20T>C (n.1505-20T>C)
n.3641-20T>C
 dbSNP

Number of alleles fetched