Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.5863286G>ACA553287NPHP4c.4260C>T (p.Cys1420=)
n.3895C>T
c.*3161C>T (n.*3161C>T)
n.3492C>T
n.3992C>T
c.*2071C>T (n.*2071C>T)
c.2721C>T (p.Cys907=)
c.2724C>T (p.Cys908=)
n.5075C>T
c.4257C>T (p.Cys1419=)
c.4218C>T (p.Cys1406=)
c.4149C>T (p.Cys1383=)
c.4206C>T (p.Cys1402=)
c.4215C>T (p.Cys1405=)
c.3732C>T (p.Cys1244=)
c.3462C>T (p.Cys1154=)
n.4126C>T
n.4111C>T
n.5027C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5863286G>CCA338047245NPHP4c.4260C>G (p.Cys1420Trp)
n.3895C>G
c.*3161C>G (n.*3161C>G)
n.3492C>G
n.3992C>G
c.*2071C>G (n.*2071C>G)
c.2721C>G (p.Cys907Trp)
c.2724C>G (p.Cys908Trp)
n.5075C>G
c.4257C>G (p.Cys1419Trp)
c.4218C>G (p.Cys1406Trp)
c.4149C>G (p.Cys1383Trp)
c.4206C>G (p.Cys1402Trp)
c.4215C>G (p.Cys1405Trp)
c.3732C>G (p.Cys1244Trp)
c.3462C>G (p.Cys1154Trp)
n.4126C>G
n.4111C>G
n.5027C>G
1g.5863286G=CA1144127540NPHP4c.4260C= (p.Cys1420=)
n.3895C=
c.*3161C= (n.*3161C=)
n.3492C=
n.3992C=
c.*2071C= (n.*2071C=)
c.2721C= (p.Cys907=)
c.2724C= (p.Cys908=)
n.5075C=
c.4257C= (p.Cys1419=)
c.4218C= (p.Cys1406=)
c.4149C= (p.Cys1383=)
c.4206C= (p.Cys1402=)
c.4215C= (p.Cys1405=)
c.3732C= (p.Cys1244=)
c.3462C= (p.Cys1154=)
n.4126C=
n.4111C=
n.5027C=
1g.5863286G>TCA338047247NPHP4c.4260C>A (p.Cys1420Ter)
n.3895C>A
c.*3161C>A (n.*3161C>A)
n.3492C>A
n.3992C>A
c.*2071C>A (n.*2071C>A)
c.2721C>A (p.Cys907Ter)
c.2724C>A (p.Cys908Ter)
n.5075C>A
c.4257C>A (p.Cys1419Ter)
c.4218C>A (p.Cys1406Ter)
c.4149C>A (p.Cys1383Ter)
c.4206C>A (p.Cys1402Ter)
c.4215C>A (p.Cys1405Ter)
c.3732C>A (p.Cys1244Ter)
c.3462C>A (p.Cys1154Ter)
n.4126C>A
n.4111C>A
n.5027C>A
1g.5863287C>ACA338047251NPHP4c.4259G>T (p.Cys1420Phe)
n.3894G>T
c.*3160G>T (n.*3160G>T)
n.3491G>T
n.3991G>T
c.*2070G>T (n.*2070G>T)
c.2720G>T (p.Cys907Phe)
c.2723G>T (p.Cys908Phe)
n.5074G>T
c.4256G>T (p.Cys1419Phe)
c.4217G>T (p.Cys1406Phe)
c.4148G>T (p.Cys1383Phe)
c.4205G>T (p.Cys1402Phe)
c.4214G>T (p.Cys1405Phe)
c.3731G>T (p.Cys1244Phe)
c.3461G>T (p.Cys1154Phe)
n.4125G>T
n.4110G>T
n.5026G>T
1g.5863287C=CA1151208430NPHP4c.4259G= (p.Cys1420=)
n.3894G=
c.*3160G= (n.*3160G=)
n.3491G=
n.3991G=
c.*2070G= (n.*2070G=)
c.2720G= (p.Cys907=)
c.2723G= (p.Cys908=)
n.5074G=
c.4256G= (p.Cys1419=)
c.4217G= (p.Cys1406=)
c.4148G= (p.Cys1383=)
c.4205G= (p.Cys1402=)
c.4214G= (p.Cys1405=)
c.3731G= (p.Cys1244=)
c.3461G= (p.Cys1154=)
n.4125G=
n.4110G=
n.5026G=
1g.5863287C>GCA338047252NPHP4c.4259G>C (p.Cys1420Ser)
n.3894G>C
c.*3160G>C (n.*3160G>C)
n.3491G>C
n.3991G>C
c.*2070G>C (n.*2070G>C)
c.2720G>C (p.Cys907Ser)
c.2723G>C (p.Cys908Ser)
n.5074G>C
c.4256G>C (p.Cys1419Ser)
c.4217G>C (p.Cys1406Ser)
c.4148G>C (p.Cys1383Ser)
c.4205G>C (p.Cys1402Ser)
c.4214G>C (p.Cys1405Ser)
c.3731G>C (p.Cys1244Ser)
c.3461G>C (p.Cys1154Ser)
n.4125G>C
n.4110G>C
n.5026G>C
1g.5863287C>TCA553288NPHP4c.4259G>A (p.Cys1420Tyr)
n.3894G>A
c.*3160G>A (n.*3160G>A)
n.3491G>A
n.3991G>A
c.*2070G>A (n.*2070G>A)
c.2720G>A (p.Cys907Tyr)
c.2723G>A (p.Cys908Tyr)
n.5074G>A
c.4256G>A (p.Cys1419Tyr)
c.4217G>A (p.Cys1406Tyr)
c.4148G>A (p.Cys1383Tyr)
c.4205G>A (p.Cys1402Tyr)
c.4214G>A (p.Cys1405Tyr)
c.3731G>A (p.Cys1244Tyr)
c.3461G>A (p.Cys1154Tyr)
n.4125G>A
n.4110G>A
n.5026G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5863288A>CCA338047260NPHP4c.4258T>G (p.Cys1420Gly)
n.3893T>G
c.*3159T>G (n.*3159T>G)
n.3490T>G
n.3990T>G
c.*2069T>G (n.*2069T>G)
c.2719T>G (p.Cys907Gly)
c.2722T>G (p.Cys908Gly)
n.5073T>G
c.4255T>G (p.Cys1419Gly)
c.4216T>G (p.Cys1406Gly)
c.4147T>G (p.Cys1383Gly)
c.4204T>G (p.Cys1402Gly)
c.4213T>G (p.Cys1405Gly)
c.3730T>G (p.Cys1244Gly)
c.3460T>G (p.Cys1154Gly)
n.4124T>G
n.4109T>G
n.5025T>G
1g.5863288A>GCA338047262NPHP4c.4258T>C (p.Cys1420Arg)
n.3893T>C
c.*3159T>C (n.*3159T>C)
n.3490T>C
n.3990T>C
c.*2069T>C (n.*2069T>C)
c.2719T>C (p.Cys907Arg)
c.2722T>C (p.Cys908Arg)
n.5073T>C
c.4255T>C (p.Cys1419Arg)
c.4216T>C (p.Cys1406Arg)
c.4147T>C (p.Cys1383Arg)
c.4204T>C (p.Cys1402Arg)
c.4213T>C (p.Cys1405Arg)
c.3730T>C (p.Cys1244Arg)
c.3460T>C (p.Cys1154Arg)
n.4124T>C
n.4109T>C
n.5025T>C
1g.5863288A>TCA338047265NPHP4c.4258T>A (p.Cys1420Ser)
n.3893T>A
c.*3159T>A (n.*3159T>A)
n.3490T>A
n.3990T>A
c.*2069T>A (n.*2069T>A)
c.2719T>A (p.Cys907Ser)
c.2722T>A (p.Cys908Ser)
n.5073T>A
c.4255T>A (p.Cys1419Ser)
c.4216T>A (p.Cys1406Ser)
c.4147T>A (p.Cys1383Ser)
c.4204T>A (p.Cys1402Ser)
c.4213T>A (p.Cys1405Ser)
c.3730T>A (p.Cys1244Ser)
c.3460T>A (p.Cys1154Ser)
n.4124T>A
n.4109T>A
n.5025T>A
1g.5863289A>CCA338047273NPHP4c.4257T>G (p.Phe1419Leu)
n.3892T>G
c.*3158T>G (n.*3158T>G)
n.3489T>G
n.3989T>G
c.*2068T>G (n.*2068T>G)
c.2718T>G (p.Phe906Leu)
c.2721T>G (p.Phe907Leu)
n.5072T>G
c.4254T>G (p.Phe1418Leu)
c.4215T>G (p.Phe1405Leu)
c.4146T>G (p.Phe1382Leu)
c.4203T>G (p.Phe1401Leu)
c.4212T>G (p.Phe1404Leu)
c.3729T>G (p.Phe1243Leu)
c.3459T>G (p.Phe1153Leu)
n.4123T>G
n.4108T>G
n.5024T>G
1g.5863289A>GCA415786766NPHP4c.4257T>C (p.Phe1419=)
n.3892T>C
c.*3158T>C (n.*3158T>C)
n.3489T>C
n.3989T>C
c.*2068T>C (n.*2068T>C)
c.2718T>C (p.Phe906=)
c.2721T>C (p.Phe907=)
n.5072T>C
c.4254T>C (p.Phe1418=)
c.4215T>C (p.Phe1405=)
c.4146T>C (p.Phe1382=)
c.4203T>C (p.Phe1401=)
c.4212T>C (p.Phe1404=)
c.3729T>C (p.Phe1243=)
c.3459T>C (p.Phe1153=)
n.4123T>C
n.4108T>C
n.5024T>C
1g.5863289A>TCA338047275NPHP4c.4257T>A (p.Phe1419Leu)
n.3892T>A
c.*3158T>A (n.*3158T>A)
n.3489T>A
n.3989T>A
c.*2068T>A (n.*2068T>A)
c.2718T>A (p.Phe906Leu)
c.2721T>A (p.Phe907Leu)
n.5072T>A
c.4254T>A (p.Phe1418Leu)
c.4215T>A (p.Phe1405Leu)
c.4146T>A (p.Phe1382Leu)
c.4203T>A (p.Phe1401Leu)
c.4212T>A (p.Phe1404Leu)
c.3729T>A (p.Phe1243Leu)
c.3459T>A (p.Phe1153Leu)
n.4123T>A
n.4108T>A
n.5024T>A
1g.5863290A>CCA338047278NPHP4c.4256T>G (p.Phe1419Cys)
n.3891T>G
c.*3157T>G (n.*3157T>G)
n.3488T>G
n.3988T>G
c.*2067T>G (n.*2067T>G)
c.2717T>G (p.Phe906Cys)
c.2720T>G (p.Phe907Cys)
n.5071T>G
c.4253T>G (p.Phe1418Cys)
c.4214T>G (p.Phe1405Cys)
c.4145T>G (p.Phe1382Cys)
c.4202T>G (p.Phe1401Cys)
c.4211T>G (p.Phe1404Cys)
c.3728T>G (p.Phe1243Cys)
c.3458T>G (p.Phe1153Cys)
n.4122T>G
n.4107T>G
n.5023T>G
1g.5863290A>GCA338047281NPHP4c.4256T>C (p.Phe1419Ser)
n.3891T>C
c.*3157T>C (n.*3157T>C)
n.3488T>C
n.3988T>C
c.*2067T>C (n.*2067T>C)
c.2717T>C (p.Phe906Ser)
c.2720T>C (p.Phe907Ser)
n.5071T>C
c.4253T>C (p.Phe1418Ser)
c.4214T>C (p.Phe1405Ser)
c.4145T>C (p.Phe1382Ser)
c.4202T>C (p.Phe1401Ser)
c.4211T>C (p.Phe1404Ser)
c.3728T>C (p.Phe1243Ser)
c.3458T>C (p.Phe1153Ser)
n.4122T>C
n.4107T>C
n.5023T>C
1g.5863290A>TCA338047279NPHP4c.4256T>A (p.Phe1419Tyr)
n.3891T>A
c.*3157T>A (n.*3157T>A)
n.3488T>A
n.3988T>A
c.*2067T>A (n.*2067T>A)
c.2717T>A (p.Phe906Tyr)
c.2720T>A (p.Phe907Tyr)
n.5071T>A
c.4253T>A (p.Phe1418Tyr)
c.4214T>A (p.Phe1405Tyr)
c.4145T>A (p.Phe1382Tyr)
c.4202T>A (p.Phe1401Tyr)
c.4211T>A (p.Phe1404Tyr)
c.3728T>A (p.Phe1243Tyr)
c.3458T>A (p.Phe1153Tyr)
n.4122T>A
n.4107T>A
n.5023T>A
1g.5863291A>CCA338047283NPHP4c.4255T>G (p.Phe1419Val)
n.3890T>G
c.*3156T>G (n.*3156T>G)
n.3487T>G
n.3987T>G
c.*2066T>G (n.*2066T>G)
c.2716T>G (p.Phe906Val)
c.2719T>G (p.Phe907Val)
n.5070T>G
c.4252T>G (p.Phe1418Val)
c.4213T>G (p.Phe1405Val)
c.4144T>G (p.Phe1382Val)
c.4201T>G (p.Phe1401Val)
c.4210T>G (p.Phe1404Val)
c.3727T>G (p.Phe1243Val)
c.3457T>G (p.Phe1153Val)
n.4121T>G
n.4106T>G
n.5022T>G
1g.5863291A>GCA338047293NPHP4c.4255T>C (p.Phe1419Leu)
n.3890T>C
c.*3156T>C (n.*3156T>C)
n.3487T>C
n.3987T>C
c.*2066T>C (n.*2066T>C)
c.2716T>C (p.Phe906Leu)
c.2719T>C (p.Phe907Leu)
n.5070T>C
c.4252T>C (p.Phe1418Leu)
c.4213T>C (p.Phe1405Leu)
c.4144T>C (p.Phe1382Leu)
c.4201T>C (p.Phe1401Leu)
c.4210T>C (p.Phe1404Leu)
c.3727T>C (p.Phe1243Leu)
c.3457T>C (p.Phe1153Leu)
n.4121T>C
n.4106T>C
n.5022T>C
1g.5863291A>TCA338047288NPHP4c.4255T>A (p.Phe1419Ile)
n.3890T>A
c.*3156T>A (n.*3156T>A)
n.3487T>A
n.3987T>A
c.*2066T>A (n.*2066T>A)
c.2716T>A (p.Phe906Ile)
c.2719T>A (p.Phe907Ile)
n.5070T>A
c.4252T>A (p.Phe1418Ile)
c.4213T>A (p.Phe1405Ile)
c.4144T>A (p.Phe1382Ile)
c.4201T>A (p.Phe1401Ile)
c.4210T>A (p.Phe1404Ile)
c.3727T>A (p.Phe1243Ile)
c.3457T>A (p.Phe1153Ile)
n.4121T>A
n.4106T>A
n.5022T>A
1g.5863292T>ACA415786772NPHP4c.4254A>T (p.Ala1418=)
n.3889A>T
c.*3155A>T (n.*3155A>T)
n.3486A>T
n.3986A>T
c.*2065A>T (n.*2065A>T)
c.2715A>T (p.Ala905=)
c.2718A>T (p.Ala906=)
n.5069A>T
c.4251A>T (p.Ala1417=)
c.4212A>T (p.Ala1404=)
c.4143A>T (p.Ala1381=)
c.4200A>T (p.Ala1400=)
c.4209A>T (p.Ala1403=)
c.3726A>T (p.Ala1242=)
c.3456A>T (p.Ala1152=)
n.4120A>T
n.4105A>T
n.5021A>T
1g.5863292T>CCA415786771NPHP4c.4254A>G (p.Ala1418=)
n.3889A>G
c.*3155A>G (n.*3155A>G)
n.3486A>G
n.3986A>G
c.*2065A>G (n.*2065A>G)
c.2715A>G (p.Ala905=)
c.2718A>G (p.Ala906=)
n.5069A>G
c.4251A>G (p.Ala1417=)
c.4212A>G (p.Ala1404=)
c.4143A>G (p.Ala1381=)
c.4200A>G (p.Ala1400=)
c.4209A>G (p.Ala1403=)
c.3726A>G (p.Ala1242=)
c.3456A>G (p.Ala1152=)
n.4120A>G
n.4105A>G
n.5021A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.5863292T>GCA415786770NPHP4c.4254A>C (p.Ala1418=)
n.3889A>C
c.*3155A>C (n.*3155A>C)
n.3486A>C
n.3986A>C
c.*2065A>C (n.*2065A>C)
c.2715A>C (p.Ala905=)
c.2718A>C (p.Ala906=)
n.5069A>C
c.4251A>C (p.Ala1417=)
c.4212A>C (p.Ala1404=)
c.4143A>C (p.Ala1381=)
c.4200A>C (p.Ala1400=)
c.4209A>C (p.Ala1403=)
c.3726A>C (p.Ala1242=)
c.3456A>C (p.Ala1152=)
n.4120A>C
n.4105A>C
n.5021A>C
1g.5863292T=CA1151208431NPHP4c.4254A= (p.Ala1418=)
n.3889A=
c.*3155A= (n.*3155A=)
n.3486A=
n.3986A=
c.*2065A= (n.*2065A=)
c.2715A= (p.Ala905=)
c.2718A= (p.Ala906=)
n.5069A=
c.4251A= (p.Ala1417=)
c.4212A= (p.Ala1404=)
c.4143A= (p.Ala1381=)
c.4200A= (p.Ala1400=)
c.4209A= (p.Ala1403=)
c.3726A= (p.Ala1242=)
c.3456A= (p.Ala1152=)
n.4120A=
n.4105A=
n.5021A=
1g.5863293G>ACA338047296NPHP4c.4253C>T (p.Ala1418Val)
n.3888C>T
c.*3154C>T (n.*3154C>T)
n.3485C>T
n.3985C>T
c.*2064C>T (n.*2064C>T)
c.2714C>T (p.Ala905Val)
c.2717C>T (p.Ala906Val)
n.5068C>T
c.4250C>T (p.Ala1417Val)
c.4211C>T (p.Ala1404Val)
c.4142C>T (p.Ala1381Val)
c.4199C>T (p.Ala1400Val)
c.4208C>T (p.Ala1403Val)
c.3725C>T (p.Ala1242Val)
c.3455C>T (p.Ala1152Val)
n.4119C>T
n.4104C>T
n.5020C>T
 dbSNP
1g.5863293G>CCA338047302NPHP4c.4253C>G (p.Ala1418Gly)
n.3888C>G
c.*3154C>G (n.*3154C>G)
n.3485C>G
n.3985C>G
c.*2064C>G (n.*2064C>G)
c.2714C>G (p.Ala905Gly)
c.2717C>G (p.Ala906Gly)
n.5068C>G
c.4250C>G (p.Ala1417Gly)
c.4211C>G (p.Ala1404Gly)
c.4142C>G (p.Ala1381Gly)
c.4199C>G (p.Ala1400Gly)
c.4208C>G (p.Ala1403Gly)
c.3725C>G (p.Ala1242Gly)
c.3455C>G (p.Ala1152Gly)
n.4119C>G
n.4104C>G
n.5020C>G
1g.5863293G=CA1151208432NPHP4c.4253C= (p.Ala1418=)
n.3888C=
c.*3154C= (n.*3154C=)
n.3485C=
n.3985C=
c.*2064C= (n.*2064C=)
c.2714C= (p.Ala905=)
c.2717C= (p.Ala906=)
n.5068C=
c.4250C= (p.Ala1417=)
c.4211C= (p.Ala1404=)
c.4142C= (p.Ala1381=)
c.4199C= (p.Ala1400=)
c.4208C= (p.Ala1403=)
c.3725C= (p.Ala1242=)
c.3455C= (p.Ala1152=)
n.4119C=
n.4104C=
n.5020C=
1g.5863293G>TCA338047298NPHP4c.4253C>A (p.Ala1418Glu)
n.3888C>A
c.*3154C>A (n.*3154C>A)
n.3485C>A
n.3985C>A
c.*2064C>A (n.*2064C>A)
c.2714C>A (p.Ala905Glu)
c.2717C>A (p.Ala906Glu)
n.5068C>A
c.4250C>A (p.Ala1417Glu)
c.4211C>A (p.Ala1404Glu)
c.4142C>A (p.Ala1381Glu)
c.4199C>A (p.Ala1400Glu)
c.4208C>A (p.Ala1403Glu)
c.3725C>A (p.Ala1242Glu)
c.3455C>A (p.Ala1152Glu)
n.4119C>A
n.4104C>A
n.5020C>A
1g.5863294C>ACA338047305NPHP4c.4252G>T (p.Ala1418Ser)
n.3887G>T
c.*3153G>T (n.*3153G>T)
n.3484G>T
n.3984G>T
c.*2063G>T (n.*2063G>T)
c.2713G>T (p.Ala905Ser)
c.2716G>T (p.Ala906Ser)
n.5067G>T
c.4249G>T (p.Ala1417Ser)
c.4210G>T (p.Ala1404Ser)
c.4141G>T (p.Ala1381Ser)
c.4198G>T (p.Ala1400Ser)
c.4207G>T (p.Ala1403Ser)
c.3724G>T (p.Ala1242Ser)
c.3454G>T (p.Ala1152Ser)
n.4118G>T
n.4103G>T
n.5019G>T
1g.5863294C=CA1151208433NPHP4c.4252G= (p.Ala1418=)
n.3887G=
c.*3153G= (n.*3153G=)
n.3484G=
n.3984G=
c.*2063G= (n.*2063G=)
c.2713G= (p.Ala905=)
c.2716G= (p.Ala906=)
n.5067G=
c.4249G= (p.Ala1417=)
c.4210G= (p.Ala1404=)
c.4141G= (p.Ala1381=)
c.4198G= (p.Ala1400=)
c.4207G= (p.Ala1403=)
c.3724G= (p.Ala1242=)
c.3454G= (p.Ala1152=)
n.4118G=
n.4103G=
n.5019G=
1g.5863294C>GCA338047309NPHP4c.4252G>C (p.Ala1418Pro)
n.3887G>C
c.*3153G>C (n.*3153G>C)
n.3484G>C
n.3984G>C
c.*2063G>C (n.*2063G>C)
c.2713G>C (p.Ala905Pro)
c.2716G>C (p.Ala906Pro)
n.5067G>C
c.4249G>C (p.Ala1417Pro)
c.4210G>C (p.Ala1404Pro)
c.4141G>C (p.Ala1381Pro)
c.4198G>C (p.Ala1400Pro)
c.4207G>C (p.Ala1403Pro)
c.3724G>C (p.Ala1242Pro)
c.3454G>C (p.Ala1152Pro)
n.4118G>C
n.4103G>C
n.5019G>C
1g.5863294C>TCA338047306NPHP4c.4252G>A (p.Ala1418Thr)
n.3887G>A
c.*3153G>A (n.*3153G>A)
n.3484G>A
n.3984G>A
c.*2063G>A (n.*2063G>A)
c.2713G>A (p.Ala905Thr)
c.2716G>A (p.Ala906Thr)
n.5067G>A
c.4249G>A (p.Ala1417Thr)
c.4210G>A (p.Ala1404Thr)
c.4141G>A (p.Ala1381Thr)
c.4198G>A (p.Ala1400Thr)
c.4207G>A (p.Ala1403Thr)
c.3724G>A (p.Ala1242Thr)
c.3454G>A (p.Ala1152Thr)
n.4118G>A
n.4103G>A
n.5019G>A
 dbSNP gnomAD v3 gnomAD v4
1g.5863295C>ACA338047312NPHP4c.4251G>T (p.Glu1417Asp)
n.3886G>T
c.*3152G>T (n.*3152G>T)
n.3483G>T
n.3983G>T
c.*2062G>T (n.*2062G>T)
c.2712G>T (p.Glu904Asp)
c.2715G>T (p.Glu905Asp)
n.5066G>T
c.4248G>T (p.Glu1416Asp)
c.4209G>T (p.Glu1403Asp)
c.4140G>T (p.Glu1380Asp)
c.4197G>T (p.Glu1399Asp)
c.4206G>T (p.Glu1402Asp)
c.3723G>T (p.Glu1241Asp)
c.3453G>T (p.Glu1151Asp)
n.4117G>T
n.4102G>T
n.5018G>T
1g.5863295C>GCA338047313NPHP4c.4251G>C (p.Glu1417Asp)
n.3886G>C
c.*3152G>C (n.*3152G>C)
n.3483G>C
n.3983G>C
c.*2062G>C (n.*2062G>C)
c.2712G>C (p.Glu904Asp)
c.2715G>C (p.Glu905Asp)
n.5066G>C
c.4248G>C (p.Glu1416Asp)
c.4209G>C (p.Glu1403Asp)
c.4140G>C (p.Glu1380Asp)
c.4197G>C (p.Glu1399Asp)
c.4206G>C (p.Glu1402Asp)
c.3723G>C (p.Glu1241Asp)
c.3453G>C (p.Glu1151Asp)
n.4117G>C
n.4102G>C
n.5018G>C
1g.5863295C>TCA415786777NPHP4c.4251G>A (p.Glu1417=)
n.3886G>A
c.*3152G>A (n.*3152G>A)
n.3483G>A
n.3983G>A
c.*2062G>A (n.*2062G>A)
c.2712G>A (p.Glu904=)
c.2715G>A (p.Glu905=)
n.5066G>A
c.4248G>A (p.Glu1416=)
c.4209G>A (p.Glu1403=)
c.4140G>A (p.Glu1380=)
c.4197G>A (p.Glu1399=)
c.4206G>A (p.Glu1402=)
c.3723G>A (p.Glu1241=)
c.3453G>A (p.Glu1151=)
n.4117G>A
n.4102G>A
n.5018G>A
 ClinVar
1g.5863295_5863298delinsCTCTCA1151208434NPHP4c.4248_4251delinsAGAG (p.Glu1416=)
n.3883_3886delinsAGAG
c.*3149_*3152delinsAGAG (n.*3149_*3152delinsAGAG)
n.3480_3483delinsAGAG
n.3980_3983delinsAGAG
c.*2059_*2062delinsAGAG (n.*2059_*2062delinsAGAG)
c.2709_2712delinsAGAG (p.Glu903=)
c.2712_2715delinsAGAG (p.Glu904=)
n.5063_5066delinsAGAG
c.4245_4248delinsAGAG (p.Glu1415=)
c.4206_4209delinsAGAG (p.Glu1402=)
c.4137_4140delinsAGAG (p.Glu1379=)
c.4194_4197delinsAGAG (p.Glu1398=)
c.4203_4206delinsAGAG (p.Glu1401=)
c.3720_3723delinsAGAG (p.Glu1240=)
c.3450_3453delinsAGAG (p.Glu1150=)
n.4114_4117delinsAGAG
n.4099_4102delinsAGAG
n.5015_5018delinsAGAG
1g.5863296T>ACA338047316NPHP4c.4250A>T (p.Glu1417Val)
n.3885A>T
c.*3151A>T (n.*3151A>T)
n.3482A>T
n.3982A>T
c.*2061A>T (n.*2061A>T)
c.2711A>T (p.Glu904Val)
c.2714A>T (p.Glu905Val)
n.5065A>T
c.4247A>T (p.Glu1416Val)
c.4208A>T (p.Glu1403Val)
c.4139A>T (p.Glu1380Val)
c.4196A>T (p.Glu1399Val)
c.4205A>T (p.Glu1402Val)
c.3722A>T (p.Glu1241Val)
c.3452A>T (p.Glu1151Val)
n.4116A>T
n.4101A>T
n.5017A>T
1g.5863296T>CCA338047318NPHP4c.4250A>G (p.Glu1417Gly)
n.3885A>G
c.*3151A>G (n.*3151A>G)
n.3482A>G
n.3982A>G
c.*2061A>G (n.*2061A>G)
c.2711A>G (p.Glu904Gly)
c.2714A>G (p.Glu905Gly)
n.5065A>G
c.4247A>G (p.Glu1416Gly)
c.4208A>G (p.Glu1403Gly)
c.4139A>G (p.Glu1380Gly)
c.4196A>G (p.Glu1399Gly)
c.4205A>G (p.Glu1402Gly)
c.3722A>G (p.Glu1241Gly)
c.3452A>G (p.Glu1151Gly)
n.4116A>G
n.4101A>G
n.5017A>G
1g.5863296T>GCA338047320NPHP4c.4250A>C (p.Glu1417Ala)
n.3885A>C
c.*3151A>C (n.*3151A>C)
n.3482A>C
n.3982A>C
c.*2061A>C (n.*2061A>C)
c.2711A>C (p.Glu904Ala)
c.2714A>C (p.Glu905Ala)
n.5065A>C
c.4247A>C (p.Glu1416Ala)
c.4208A>C (p.Glu1403Ala)
c.4139A>C (p.Glu1380Ala)
c.4196A>C (p.Glu1399Ala)
c.4205A>C (p.Glu1402Ala)
c.3722A>C (p.Glu1241Ala)
c.3452A>C (p.Glu1151Ala)
n.4116A>C
n.4101A>C
n.5017A>C
1g.5863298_5863300delCA553289NPHP4c.4248_4250del (p.Glu1417del)
n.3883_3885del
c.*3149_*3151del (n.*3149_*3151del)
n.3480_3482del
n.3980_3982del
c.*2059_*2061del (n.*2059_*2061del)
c.2709_2711del (p.Glu904del)
c.2712_2714del (p.Glu905del)
n.5063_5065del
c.4245_4247del (p.Glu1416del)
c.4206_4208del (p.Glu1403del)
c.4137_4139del (p.Glu1380del)
c.4194_4196del (p.Glu1399del)
c.4203_4205del (p.Glu1402del)
c.3720_3722del (p.Glu1241del)
c.3450_3452del (p.Glu1151del)
n.4114_4116del
n.4099_4101del
n.5015_5017del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5863297C>ACA338047324NPHP4c.4249G>T (p.Glu1417Ter)
n.3884G>T
c.*3150G>T (n.*3150G>T)
n.3481G>T
n.3981G>T
c.*2060G>T (n.*2060G>T)
c.2710G>T (p.Glu904Ter)
c.2713G>T (p.Glu905Ter)
n.5064G>T
c.4246G>T (p.Glu1416Ter)
c.4207G>T (p.Glu1403Ter)
c.4138G>T (p.Glu1380Ter)
c.4195G>T (p.Glu1399Ter)
c.4204G>T (p.Glu1402Ter)
c.3721G>T (p.Glu1241Ter)
c.3451G>T (p.Glu1151Ter)
n.4115G>T
n.4100G>T
n.5016G>T
1g.5863297C=CA1148411862NPHP4c.4249G= (p.Glu1417=)
n.3884G=
c.*3150G= (n.*3150G=)
n.3481G=
n.3981G=
c.*2060G= (n.*2060G=)
c.2710G= (p.Glu904=)
c.2713G= (p.Glu905=)
n.5064G=
c.4246G= (p.Glu1416=)
c.4207G= (p.Glu1403=)
c.4138G= (p.Glu1380=)
c.4195G= (p.Glu1399=)
c.4204G= (p.Glu1402=)
c.3721G= (p.Glu1241=)
c.3451G= (p.Glu1151=)
n.4115G=
n.4100G=
n.5016G=
1g.5863297C>GCA338047326NPHP4c.4249G>C (p.Glu1417Gln)
n.3884G>C
c.*3150G>C (n.*3150G>C)
n.3481G>C
n.3981G>C
c.*2060G>C (n.*2060G>C)
c.2710G>C (p.Glu904Gln)
c.2713G>C (p.Glu905Gln)
n.5064G>C
c.4246G>C (p.Glu1416Gln)
c.4207G>C (p.Glu1403Gln)
c.4138G>C (p.Glu1380Gln)
c.4195G>C (p.Glu1399Gln)
c.4204G>C (p.Glu1402Gln)
c.3721G>C (p.Glu1241Gln)
c.3451G>C (p.Glu1151Gln)
n.4115G>C
n.4100G>C
n.5016G>C
1g.5863297C>TCA553290NPHP4c.4249G>A (p.Glu1417Lys)
n.3884G>A
c.*3150G>A (n.*3150G>A)
n.3481G>A
n.3981G>A
c.*2060G>A (n.*2060G>A)
c.2710G>A (p.Glu904Lys)
c.2713G>A (p.Glu905Lys)
n.5064G>A
c.4246G>A (p.Glu1416Lys)
c.4207G>A (p.Glu1403Lys)
c.4138G>A (p.Glu1380Lys)
c.4195G>A (p.Glu1399Lys)
c.4204G>A (p.Glu1402Lys)
c.3721G>A (p.Glu1241Lys)
c.3451G>A (p.Glu1151Lys)
n.4115G>A
n.4100G>A
n.5016G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.5863298T>ACA338047335NPHP4c.4248A>T (p.Glu1416Asp)
n.3883A>T
c.*3149A>T (n.*3149A>T)
n.3480A>T
n.3980A>T
c.*2059A>T (n.*2059A>T)
c.2709A>T (p.Glu903Asp)
c.2712A>T (p.Glu904Asp)
n.5063A>T
c.4245A>T (p.Glu1415Asp)
c.4206A>T (p.Glu1402Asp)
c.4137A>T (p.Glu1379Asp)
c.4194A>T (p.Glu1398Asp)
c.4203A>T (p.Glu1401Asp)
c.3720A>T (p.Glu1240Asp)
c.3450A>T (p.Glu1150Asp)
n.4114A>T
n.4099A>T
n.5015A>T
1g.5863298T>CCA415786779NPHP4c.4248A>G (p.Glu1416=)
n.3883A>G
c.*3149A>G (n.*3149A>G)
n.3480A>G
n.3980A>G
c.*2059A>G (n.*2059A>G)
c.2709A>G (p.Glu903=)
c.2712A>G (p.Glu904=)
n.5063A>G
c.4245A>G (p.Glu1415=)
c.4206A>G (p.Glu1402=)
c.4137A>G (p.Glu1379=)
c.4194A>G (p.Glu1398=)
c.4203A>G (p.Glu1401=)
c.3720A>G (p.Glu1240=)
c.3450A>G (p.Glu1150=)
n.4114A>G
n.4099A>G
n.5015A>G
1g.5863298T>GCA338047338NPHP4c.4248A>C (p.Glu1416Asp)
n.3883A>C
c.*3149A>C (n.*3149A>C)
n.3480A>C
n.3980A>C
c.*2059A>C (n.*2059A>C)
c.2709A>C (p.Glu903Asp)
c.2712A>C (p.Glu904Asp)
n.5063A>C
c.4245A>C (p.Glu1415Asp)
c.4206A>C (p.Glu1402Asp)
c.4137A>C (p.Glu1379Asp)
c.4194A>C (p.Glu1398Asp)
c.4203A>C (p.Glu1401Asp)
c.3720A>C (p.Glu1240Asp)
c.3450A>C (p.Glu1150Asp)
n.4114A>C
n.4099A>C
n.5015A>C
1g.5863299T>ACA338047345NPHP4c.4247A>T (p.Glu1416Val)
n.3882A>T
c.*3148A>T (n.*3148A>T)
n.3479A>T
n.3979A>T
c.*2058A>T (n.*2058A>T)
c.2708A>T (p.Glu903Val)
c.2711A>T (p.Glu904Val)
n.5062A>T
c.4244A>T (p.Glu1415Val)
c.4205A>T (p.Glu1402Val)
c.4136A>T (p.Glu1379Val)
c.4193A>T (p.Glu1398Val)
c.4202A>T (p.Glu1401Val)
c.3719A>T (p.Glu1240Val)
c.3449A>T (p.Glu1150Val)
n.4113A>T
n.4098A>T
n.5014A>T
1g.5863299T>CCA338047341NPHP4c.4247A>G (p.Glu1416Gly)
n.3882A>G
c.*3148A>G (n.*3148A>G)
n.3479A>G
n.3979A>G
c.*2058A>G (n.*2058A>G)
c.2708A>G (p.Glu903Gly)
c.2711A>G (p.Glu904Gly)
n.5062A>G
c.4244A>G (p.Glu1415Gly)
c.4205A>G (p.Glu1402Gly)
c.4136A>G (p.Glu1379Gly)
c.4193A>G (p.Glu1398Gly)
c.4202A>G (p.Glu1401Gly)
c.3719A>G (p.Glu1240Gly)
c.3449A>G (p.Glu1150Gly)
n.4113A>G
n.4098A>G
n.5014A>G
1g.5863299T>GCA338047343NPHP4c.4247A>C (p.Glu1416Ala)
n.3882A>C
c.*3148A>C (n.*3148A>C)
n.3479A>C
n.3979A>C
c.*2058A>C (n.*2058A>C)
c.2708A>C (p.Glu903Ala)
c.2711A>C (p.Glu904Ala)
n.5062A>C
c.4244A>C (p.Glu1415Ala)
c.4205A>C (p.Glu1402Ala)
c.4136A>C (p.Glu1379Ala)
c.4193A>C (p.Glu1398Ala)
c.4202A>C (p.Glu1401Ala)
c.3719A>C (p.Glu1240Ala)
c.3449A>C (p.Glu1150Ala)
n.4113A>C
n.4098A>C
n.5014A>C

Number of alleles fetched