Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.5863923C>ACA415786966NPHP4c.4107G>T (p.Pro1369=)
n.3258G>T
c.*3008G>T (n.*3008G>T)
n.2855G>T
n.3839G>T
c.*1918G>T (n.*1918G>T)
c.2568G>T (p.Pro856=)
c.2571G>T (p.Pro857=)
n.4922G>T
c.4104G>T (p.Pro1368=)
c.4065G>T (p.Pro1355=)
c.3996G>T (p.Pro1332=)
c.4053G>T (p.Pro1351=)
c.4062G>T (p.Pro1354=)
c.3579G>T (p.Pro1193=)
c.3309G>T (p.Pro1103=)
n.3973G>T
n.3958G>T
n.4874G>T
1g.5863923C=CA1143426023NPHP4c.4107G= (p.Pro1369=)
n.3258G=
c.*3008G= (n.*3008G=)
n.2855G=
n.3839G=
c.*1918G= (n.*1918G=)
c.2568G= (p.Pro856=)
c.2571G= (p.Pro857=)
n.4922G=
c.4104G= (p.Pro1368=)
c.4065G= (p.Pro1355=)
c.3996G= (p.Pro1332=)
c.4053G= (p.Pro1351=)
c.4062G= (p.Pro1354=)
c.3579G= (p.Pro1193=)
c.3309G= (p.Pro1103=)
n.3973G=
n.3958G=
n.4874G=
1g.5863923C>GCA415786967NPHP4c.4107G>C (p.Pro1369=)
n.3258G>C
c.*3008G>C (n.*3008G>C)
n.2855G>C
n.3839G>C
c.*1918G>C (n.*1918G>C)
c.2568G>C (p.Pro856=)
c.2571G>C (p.Pro857=)
n.4922G>C
c.4104G>C (p.Pro1368=)
c.4065G>C (p.Pro1355=)
c.3996G>C (p.Pro1332=)
c.4053G>C (p.Pro1351=)
c.4062G>C (p.Pro1354=)
c.3579G>C (p.Pro1193=)
c.3309G>C (p.Pro1103=)
n.3973G>C
n.3958G>C
n.4874G>C
1g.5863923C>TCA553352NPHP4c.4107G>A (p.Pro1369=)
n.3258G>A
c.*3008G>A (n.*3008G>A)
n.2855G>A
n.3839G>A
c.*1918G>A (n.*1918G>A)
c.2568G>A (p.Pro856=)
c.2571G>A (p.Pro857=)
n.4922G>A
c.4104G>A (p.Pro1368=)
c.4065G>A (p.Pro1355=)
c.3996G>A (p.Pro1332=)
c.4053G>A (p.Pro1351=)
c.4062G>A (p.Pro1354=)
c.3579G>A (p.Pro1193=)
c.3309G>A (p.Pro1103=)
n.3973G>A
n.3958G>A
n.4874G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5863924G>ACA553353NPHP4c.4106C>T (p.Pro1369Leu)
n.3257C>T
c.*3007C>T (n.*3007C>T)
n.2854C>T
n.3838C>T
c.*1917C>T (n.*1917C>T)
c.2567C>T (p.Pro856Leu)
c.2570C>T (p.Pro857Leu)
n.4921C>T
c.4103C>T (p.Pro1368Leu)
c.4064C>T (p.Pro1355Leu)
c.3995C>T (p.Pro1332Leu)
c.4052C>T (p.Pro1351Leu)
c.4061C>T (p.Pro1354Leu)
c.3578C>T (p.Pro1193Leu)
c.3308C>T (p.Pro1103Leu)
n.3972C>T
n.3957C>T
n.4873C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5863924G>CCA338048877NPHP4c.4106C>G (p.Pro1369Arg)
n.3257C>G
c.*3007C>G (n.*3007C>G)
n.2854C>G
n.3838C>G
c.*1917C>G (n.*1917C>G)
c.2567C>G (p.Pro856Arg)
c.2570C>G (p.Pro857Arg)
n.4921C>G
c.4103C>G (p.Pro1368Arg)
c.4064C>G (p.Pro1355Arg)
c.3995C>G (p.Pro1332Arg)
c.4052C>G (p.Pro1351Arg)
c.4061C>G (p.Pro1354Arg)
c.3578C>G (p.Pro1193Arg)
c.3308C>G (p.Pro1103Arg)
n.3972C>G
n.3957C>G
n.4873C>G
 dbSNP gnomAD v3 gnomAD v4
1g.5863924G=CA1148296660NPHP4c.4106C= (p.Pro1369=)
n.3257C=
c.*3007C= (n.*3007C=)
n.2854C=
n.3838C=
c.*1917C= (n.*1917C=)
c.2567C= (p.Pro856=)
c.2570C= (p.Pro857=)
n.4921C=
c.4103C= (p.Pro1368=)
c.4064C= (p.Pro1355=)
c.3995C= (p.Pro1332=)
c.4052C= (p.Pro1351=)
c.4061C= (p.Pro1354=)
c.3578C= (p.Pro1193=)
c.3308C= (p.Pro1103=)
n.3972C=
n.3957C=
n.4873C=
1g.5863924G>TCA338048878NPHP4c.4106C>A (p.Pro1369Gln)
n.3257C>A
c.*3007C>A (n.*3007C>A)
n.2854C>A
n.3838C>A
c.*1917C>A (n.*1917C>A)
c.2567C>A (p.Pro856Gln)
c.2570C>A (p.Pro857Gln)
n.4921C>A
c.4103C>A (p.Pro1368Gln)
c.4064C>A (p.Pro1355Gln)
c.3995C>A (p.Pro1332Gln)
c.4052C>A (p.Pro1351Gln)
c.4061C>A (p.Pro1354Gln)
c.3578C>A (p.Pro1193Gln)
c.3308C>A (p.Pro1103Gln)
n.3972C>A
n.3957C>A
n.4873C>A
1g.5863925G>ACA553354NPHP4c.4105C>T (p.Pro1369Ser)
n.3256C>T
c.*3006C>T (n.*3006C>T)
n.2853C>T
n.3837C>T
c.*1916C>T (n.*1916C>T)
c.2566C>T (p.Pro856Ser)
c.2569C>T (p.Pro857Ser)
n.4920C>T
c.4102C>T (p.Pro1368Ser)
c.4063C>T (p.Pro1355Ser)
c.3994C>T (p.Pro1332Ser)
c.4051C>T (p.Pro1351Ser)
c.4060C>T (p.Pro1354Ser)
c.3577C>T (p.Pro1193Ser)
c.3307C>T (p.Pro1103Ser)
n.3971C>T
n.3956C>T
n.4872C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5863925G>CCA338048881NPHP4c.4105C>G (p.Pro1369Ala)
n.3256C>G
c.*3006C>G (n.*3006C>G)
n.2853C>G
n.3837C>G
c.*1916C>G (n.*1916C>G)
c.2566C>G (p.Pro856Ala)
c.2569C>G (p.Pro857Ala)
n.4920C>G
c.4102C>G (p.Pro1368Ala)
c.4063C>G (p.Pro1355Ala)
c.3994C>G (p.Pro1332Ala)
c.4051C>G (p.Pro1351Ala)
c.4060C>G (p.Pro1354Ala)
c.3577C>G (p.Pro1193Ala)
c.3307C>G (p.Pro1103Ala)
n.3971C>G
n.3956C>G
n.4872C>G
1g.5863925G=CA1144142368NPHP4c.4105C= (p.Pro1369=)
n.3256C=
c.*3006C= (n.*3006C=)
n.2853C=
n.3837C=
c.*1916C= (n.*1916C=)
c.2566C= (p.Pro856=)
c.2569C= (p.Pro857=)
n.4920C=
c.4102C= (p.Pro1368=)
c.4063C= (p.Pro1355=)
c.3994C= (p.Pro1332=)
c.4051C= (p.Pro1351=)
c.4060C= (p.Pro1354=)
c.3577C= (p.Pro1193=)
c.3307C= (p.Pro1103=)
n.3971C=
n.3956C=
n.4872C=
1g.5863925G>TCA338048883NPHP4c.4105C>A (p.Pro1369Thr)
n.3256C>A
c.*3006C>A (n.*3006C>A)
n.2853C>A
n.3837C>A
c.*1916C>A (n.*1916C>A)
c.2566C>A (p.Pro856Thr)
c.2569C>A (p.Pro857Thr)
n.4920C>A
c.4102C>A (p.Pro1368Thr)
c.4063C>A (p.Pro1355Thr)
c.3994C>A (p.Pro1332Thr)
c.4051C>A (p.Pro1351Thr)
c.4060C>A (p.Pro1354Thr)
c.3577C>A (p.Pro1193Thr)
c.3307C>A (p.Pro1103Thr)
n.3971C>A
n.3956C>A
n.4872C>A
1g.5863926G>ACA415786973NPHP4c.4104C>T (p.His1368=)
n.3255C>T
c.*3005C>T (n.*3005C>T)
n.2852C>T
n.3836C>T
c.*1915C>T (n.*1915C>T)
c.2565C>T (p.His855=)
c.2568C>T (p.His856=)
n.4919C>T
c.4101C>T (p.His1367=)
c.4062C>T (p.His1354=)
c.3993C>T (p.His1331=)
c.4050C>T (p.His1350=)
c.4059C>T (p.His1353=)
c.3576C>T (p.His1192=)
c.3306C>T (p.His1102=)
n.3970C>T
n.3955C>T
n.4871C>T
1g.5863926G>CCA338048885NPHP4c.4104C>G (p.His1368Gln)
n.3255C>G
c.*3005C>G (n.*3005C>G)
n.2852C>G
n.3836C>G
c.*1915C>G (n.*1915C>G)
c.2565C>G (p.His855Gln)
c.2568C>G (p.His856Gln)
n.4919C>G
c.4101C>G (p.His1367Gln)
c.4062C>G (p.His1354Gln)
c.3993C>G (p.His1331Gln)
c.4050C>G (p.His1350Gln)
c.4059C>G (p.His1353Gln)
c.3576C>G (p.His1192Gln)
c.3306C>G (p.His1102Gln)
n.3970C>G
n.3955C>G
n.4871C>G
1g.5863926G>TCA338048887NPHP4c.4104C>A (p.His1368Gln)
n.3255C>A
c.*3005C>A (n.*3005C>A)
n.2852C>A
n.3836C>A
c.*1915C>A (n.*1915C>A)
c.2565C>A (p.His855Gln)
c.2568C>A (p.His856Gln)
n.4919C>A
c.4101C>A (p.His1367Gln)
c.4062C>A (p.His1354Gln)
c.3993C>A (p.His1331Gln)
c.4050C>A (p.His1350Gln)
c.4059C>A (p.His1353Gln)
c.3576C>A (p.His1192Gln)
c.3306C>A (p.His1102Gln)
n.3970C>A
n.3955C>A
n.4871C>A
1g.5863927T>ACA338048891NPHP4c.4103A>T (p.His1368Leu)
n.3254A>T
c.*3004A>T (n.*3004A>T)
n.2851A>T
n.3835A>T
c.*1914A>T (n.*1914A>T)
c.2564A>T (p.His855Leu)
c.2567A>T (p.His856Leu)
n.4918A>T
c.4100A>T (p.His1367Leu)
c.4061A>T (p.His1354Leu)
c.3992A>T (p.His1331Leu)
c.4049A>T (p.His1350Leu)
c.4058A>T (p.His1353Leu)
c.3575A>T (p.His1192Leu)
c.3305A>T (p.His1102Leu)
n.3969A>T
n.3954A>T
n.4870A>T
1g.5863927T>CCA338048889NPHP4c.4103A>G (p.His1368Arg)
n.3254A>G
c.*3004A>G (n.*3004A>G)
n.2851A>G
n.3835A>G
c.*1914A>G (n.*1914A>G)
c.2564A>G (p.His855Arg)
c.2567A>G (p.His856Arg)
n.4918A>G
c.4100A>G (p.His1367Arg)
c.4061A>G (p.His1354Arg)
c.3992A>G (p.His1331Arg)
c.4049A>G (p.His1350Arg)
c.4058A>G (p.His1353Arg)
c.3575A>G (p.His1192Arg)
c.3305A>G (p.His1102Arg)
n.3969A>G
n.3954A>G
n.4870A>G
 gnomAD v4
1g.5863927T>GCA338048890NPHP4c.4103A>C (p.His1368Pro)
n.3254A>C
c.*3004A>C (n.*3004A>C)
n.2851A>C
n.3835A>C
c.*1914A>C (n.*1914A>C)
c.2564A>C (p.His855Pro)
c.2567A>C (p.His856Pro)
n.4918A>C
c.4100A>C (p.His1367Pro)
c.4061A>C (p.His1354Pro)
c.3992A>C (p.His1331Pro)
c.4049A>C (p.His1350Pro)
c.4058A>C (p.His1353Pro)
c.3575A>C (p.His1192Pro)
c.3305A>C (p.His1102Pro)
n.3969A>C
n.3954A>C
n.4870A>C
 COSMIC
1g.5863928G>ACA338048892NPHP4c.4102C>T (p.His1368Tyr)
n.3253C>T
c.*3003C>T (n.*3003C>T)
n.2850C>T
n.3834C>T
c.*1913C>T (n.*1913C>T)
c.2563C>T (p.His855Tyr)
c.2566C>T (p.His856Tyr)
n.4917C>T
c.4099C>T (p.His1367Tyr)
c.4060C>T (p.His1354Tyr)
c.3991C>T (p.His1331Tyr)
c.4048C>T (p.His1350Tyr)
c.4057C>T (p.His1353Tyr)
c.3574C>T (p.His1192Tyr)
c.3304C>T (p.His1102Tyr)
n.3968C>T
n.3953C>T
n.4869C>T
 dbSNP
1g.5863928G>CCA338048893NPHP4c.4102C>G (p.His1368Asp)
n.3253C>G
c.*3003C>G (n.*3003C>G)
n.2850C>G
n.3834C>G
c.*1913C>G (n.*1913C>G)
c.2563C>G (p.His855Asp)
c.2566C>G (p.His856Asp)
n.4917C>G
c.4099C>G (p.His1367Asp)
c.4060C>G (p.His1354Asp)
c.3991C>G (p.His1331Asp)
c.4048C>G (p.His1350Asp)
c.4057C>G (p.His1353Asp)
c.3574C>G (p.His1192Asp)
c.3304C>G (p.His1102Asp)
n.3968C>G
n.3953C>G
n.4869C>G
1g.5863928G=CA1151209142NPHP4c.4102C= (p.His1368=)
n.3253C=
c.*3003C= (n.*3003C=)
n.2850C=
n.3834C=
c.*1913C= (n.*1913C=)
c.2563C= (p.His855=)
c.2566C= (p.His856=)
n.4917C=
c.4099C= (p.His1367=)
c.4060C= (p.His1354=)
c.3991C= (p.His1331=)
c.4048C= (p.His1350=)
c.4057C= (p.His1353=)
c.3574C= (p.His1192=)
c.3304C= (p.His1102=)
n.3968C=
n.3953C=
n.4869C=
1g.5863928G>TCA338048894NPHP4c.4102C>A (p.His1368Asn)
n.3253C>A
c.*3003C>A (n.*3003C>A)
n.2850C>A
n.3834C>A
c.*1913C>A (n.*1913C>A)
c.2563C>A (p.His855Asn)
c.2566C>A (p.His856Asn)
n.4917C>A
c.4099C>A (p.His1367Asn)
c.4060C>A (p.His1354Asn)
c.3991C>A (p.His1331Asn)
c.4048C>A (p.His1350Asn)
c.4057C>A (p.His1353Asn)
c.3574C>A (p.His1192Asn)
c.3304C>A (p.His1102Asn)
n.3968C>A
n.3953C>A
n.4869C>A
1g.5863929G>ACA17124844NPHP4c.4101C>T (p.Asp1367=)
n.3252C>T
c.*3002C>T (n.*3002C>T)
n.2849C>T
n.3833C>T
c.*1912C>T (n.*1912C>T)
c.2562C>T (p.Asp854=)
c.2565C>T (p.Asp855=)
n.4916C>T
c.4098C>T (p.Asp1366=)
c.4059C>T (p.Asp1353=)
c.3990C>T (p.Asp1330=)
c.4047C>T (p.Asp1349=)
c.4056C>T (p.Asp1352=)
c.3573C>T (p.Asp1191=)
c.3303C>T (p.Asp1101=)
n.3967C>T
n.3952C>T
n.4868C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.5863929G>CCA338048895NPHP4c.4101C>G (p.Asp1367Glu)
n.3252C>G
c.*3002C>G (n.*3002C>G)
n.2849C>G
n.3833C>G
c.*1912C>G (n.*1912C>G)
c.2562C>G (p.Asp854Glu)
c.2565C>G (p.Asp855Glu)
n.4916C>G
c.4098C>G (p.Asp1366Glu)
c.4059C>G (p.Asp1353Glu)
c.3990C>G (p.Asp1330Glu)
c.4047C>G (p.Asp1349Glu)
c.4056C>G (p.Asp1352Glu)
c.3573C>G (p.Asp1191Glu)
c.3303C>G (p.Asp1101Glu)
n.3967C>G
n.3952C>G
n.4868C>G
1g.5863929G=CA1151209145NPHP4c.4101C= (p.Asp1367=)
n.3252C=
c.*3002C= (n.*3002C=)
n.2849C=
n.3833C=
c.*1912C= (n.*1912C=)
c.2562C= (p.Asp854=)
c.2565C= (p.Asp855=)
n.4916C=
c.4098C= (p.Asp1366=)
c.4059C= (p.Asp1353=)
c.3990C= (p.Asp1330=)
c.4047C= (p.Asp1349=)
c.4056C= (p.Asp1352=)
c.3573C= (p.Asp1191=)
c.3303C= (p.Asp1101=)
n.3967C=
n.3952C=
n.4868C=
1g.5863929G>TCA338048896NPHP4c.4101C>A (p.Asp1367Glu)
n.3252C>A
c.*3002C>A (n.*3002C>A)
n.2849C>A
n.3833C>A
c.*1912C>A (n.*1912C>A)
c.2562C>A (p.Asp854Glu)
c.2565C>A (p.Asp855Glu)
n.4916C>A
c.4098C>A (p.Asp1366Glu)
c.4059C>A (p.Asp1353Glu)
c.3990C>A (p.Asp1330Glu)
c.4047C>A (p.Asp1349Glu)
c.4056C>A (p.Asp1352Glu)
c.3573C>A (p.Asp1191Glu)
c.3303C>A (p.Asp1101Glu)
n.3967C>A
n.3952C>A
n.4868C>A
 dbSNP gnomAD v2 gnomAD v4
1g.5863930T>ACA338048898NPHP4c.4100A>T (p.Asp1367Val)
n.3251A>T
c.*3001A>T (n.*3001A>T)
n.2848A>T
n.3832A>T
c.*1911A>T (n.*1911A>T)
c.2561A>T (p.Asp854Val)
c.2564A>T (p.Asp855Val)
n.4915A>T
c.4097A>T (p.Asp1366Val)
c.4058A>T (p.Asp1353Val)
c.3989A>T (p.Asp1330Val)
c.4046A>T (p.Asp1349Val)
c.4055A>T (p.Asp1352Val)
c.3572A>T (p.Asp1191Val)
c.3302A>T (p.Asp1101Val)
n.3966A>T
n.3951A>T
n.4867A>T
1g.5863930T>CCA338048899NPHP4c.4100A>G (p.Asp1367Gly)
n.3251A>G
c.*3001A>G (n.*3001A>G)
n.2848A>G
n.3832A>G
c.*1911A>G (n.*1911A>G)
c.2561A>G (p.Asp854Gly)
c.2564A>G (p.Asp855Gly)
n.4915A>G
c.4097A>G (p.Asp1366Gly)
c.4058A>G (p.Asp1353Gly)
c.3989A>G (p.Asp1330Gly)
c.4046A>G (p.Asp1349Gly)
c.4055A>G (p.Asp1352Gly)
c.3572A>G (p.Asp1191Gly)
c.3302A>G (p.Asp1101Gly)
n.3966A>G
n.3951A>G
n.4867A>G
 dbSNP gnomAD v3 gnomAD v4
1g.5863930T>GCA338048901NPHP4c.4100A>C (p.Asp1367Ala)
n.3251A>C
c.*3001A>C (n.*3001A>C)
n.2848A>C
n.3832A>C
c.*1911A>C (n.*1911A>C)
c.2561A>C (p.Asp854Ala)
c.2564A>C (p.Asp855Ala)
n.4915A>C
c.4097A>C (p.Asp1366Ala)
c.4058A>C (p.Asp1353Ala)
c.3989A>C (p.Asp1330Ala)
c.4046A>C (p.Asp1349Ala)
c.4055A>C (p.Asp1352Ala)
c.3572A>C (p.Asp1191Ala)
c.3302A>C (p.Asp1101Ala)
n.3966A>C
n.3951A>C
n.4867A>C
1g.5863930T=CA1151209151NPHP4c.4100A= (p.Asp1367=)
n.3251A=
c.*3001A= (n.*3001A=)
n.2848A=
n.3832A=
c.*1911A= (n.*1911A=)
c.2561A= (p.Asp854=)
c.2564A= (p.Asp855=)
n.4915A=
c.4097A= (p.Asp1366=)
c.4058A= (p.Asp1353=)
c.3989A= (p.Asp1330=)
c.4046A= (p.Asp1349=)
c.4055A= (p.Asp1352=)
c.3572A= (p.Asp1191=)
c.3302A= (p.Asp1101=)
n.3966A=
n.3951A=
n.4867A=
1g.5863931C>ACA338048904NPHP4c.4099G>T (p.Asp1367Tyr)
n.3250G>T
c.*3000G>T (n.*3000G>T)
n.2847G>T
n.3831G>T
c.*1910G>T (n.*1910G>T)
c.2560G>T (p.Asp854Tyr)
c.2563G>T (p.Asp855Tyr)
n.4914G>T
c.4096G>T (p.Asp1366Tyr)
c.4057G>T (p.Asp1353Tyr)
c.3988G>T (p.Asp1330Tyr)
c.4045G>T (p.Asp1349Tyr)
c.4054G>T (p.Asp1352Tyr)
c.3571G>T (p.Asp1191Tyr)
c.3301G>T (p.Asp1101Tyr)
n.3965G>T
n.3950G>T
n.4866G>T
1g.5863931C=CA1143543632NPHP4c.4099G= (p.Asp1367=)
n.3250G=
c.*3000G= (n.*3000G=)
n.2847G=
n.3831G=
c.*1910G= (n.*1910G=)
c.2560G= (p.Asp854=)
c.2563G= (p.Asp855=)
n.4914G=
c.4096G= (p.Asp1366=)
c.4057G= (p.Asp1353=)
c.3988G= (p.Asp1330=)
c.4045G= (p.Asp1349=)
c.4054G= (p.Asp1352=)
c.3571G= (p.Asp1191=)
c.3301G= (p.Asp1101=)
n.3965G=
n.3950G=
n.4866G=
1g.5863931C>GCA338048905NPHP4c.4099G>C (p.Asp1367His)
n.3250G>C
c.*3000G>C (n.*3000G>C)
n.2847G>C
n.3831G>C
c.*1910G>C (n.*1910G>C)
c.2560G>C (p.Asp854His)
c.2563G>C (p.Asp855His)
n.4914G>C
c.4096G>C (p.Asp1366His)
c.4057G>C (p.Asp1353His)
c.3988G>C (p.Asp1330His)
c.4045G>C (p.Asp1349His)
c.4054G>C (p.Asp1352His)
c.3571G>C (p.Asp1191His)
c.3301G>C (p.Asp1101His)
n.3965G>C
n.3950G>C
n.4866G>C
 dbSNP gnomAD v2 gnomAD v4
1g.5863931C>TCA553355NPHP4c.4099G>A (p.Asp1367Asn)
n.3250G>A
c.*3000G>A (n.*3000G>A)
n.2847G>A
n.3831G>A
c.*1910G>A (n.*1910G>A)
c.2560G>A (p.Asp854Asn)
c.2563G>A (p.Asp855Asn)
n.4914G>A
c.4096G>A (p.Asp1366Asn)
c.4057G>A (p.Asp1353Asn)
c.3988G>A (p.Asp1330Asn)
c.4045G>A (p.Asp1349Asn)
c.4054G>A (p.Asp1352Asn)
c.3571G>A (p.Asp1191Asn)
c.3301G>A (p.Asp1101Asn)
n.3965G>A
n.3950G>A
n.4866G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5863932G>ACA17124846NPHP4c.4098C>T (p.Ser1366=)
n.3249C>T
c.*2999C>T (n.*2999C>T)
n.2846C>T
n.3830C>T
c.*1909C>T (n.*1909C>T)
c.2559C>T (p.Ser853=)
c.2562C>T (p.Ser854=)
n.4913C>T
c.4095C>T (p.Ser1365=)
c.4056C>T (p.Ser1352=)
c.3987C>T (p.Ser1329=)
c.4044C>T (p.Ser1348=)
c.4053C>T (p.Ser1351=)
c.3570C>T (p.Ser1190=)
c.3300C>T (p.Ser1100=)
n.3964C>T
n.3949C>T
n.4865C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.5863932G>CCA338048910NPHP4c.4098C>G (p.Ser1366Arg)
n.3249C>G
c.*2999C>G (n.*2999C>G)
n.2846C>G
n.3830C>G
c.*1909C>G (n.*1909C>G)
c.2559C>G (p.Ser853Arg)
c.2562C>G (p.Ser854Arg)
n.4913C>G
c.4095C>G (p.Ser1365Arg)
c.4056C>G (p.Ser1352Arg)
c.3987C>G (p.Ser1329Arg)
c.4044C>G (p.Ser1348Arg)
c.4053C>G (p.Ser1351Arg)
c.3570C>G (p.Ser1190Arg)
c.3300C>G (p.Ser1100Arg)
n.3964C>G
n.3949C>G
n.4865C>G
1g.5863932G=CA1143821227NPHP4c.4098C= (p.Ser1366=)
n.3249C=
c.*2999C= (n.*2999C=)
n.2846C=
n.3830C=
c.*1909C= (n.*1909C=)
c.2559C= (p.Ser853=)
c.2562C= (p.Ser854=)
n.4913C=
c.4095C= (p.Ser1365=)
c.4056C= (p.Ser1352=)
c.3987C= (p.Ser1329=)
c.4044C= (p.Ser1348=)
c.4053C= (p.Ser1351=)
c.3570C= (p.Ser1190=)
c.3300C= (p.Ser1100=)
n.3964C=
n.3949C=
n.4865C=
1g.5863932G>TCA338048908NPHP4c.4098C>A (p.Ser1366Arg)
n.3249C>A
c.*2999C>A (n.*2999C>A)
n.2846C>A
n.3830C>A
c.*1909C>A (n.*1909C>A)
c.2559C>A (p.Ser853Arg)
c.2562C>A (p.Ser854Arg)
n.4913C>A
c.4095C>A (p.Ser1365Arg)
c.4056C>A (p.Ser1352Arg)
c.3987C>A (p.Ser1329Arg)
c.4044C>A (p.Ser1348Arg)
c.4053C>A (p.Ser1351Arg)
c.3570C>A (p.Ser1190Arg)
c.3300C>A (p.Ser1100Arg)
n.3964C>A
n.3949C>A
n.4865C>A
 gnomAD v4
1g.5863933C>ACA338048915NPHP4c.4097G>T (p.Ser1366Ile)
n.3248G>T
c.*2998G>T (n.*2998G>T)
n.2845G>T
n.3829G>T
c.*1908G>T (n.*1908G>T)
c.2558G>T (p.Ser853Ile)
c.2561G>T (p.Ser854Ile)
n.4912G>T
c.4094G>T (p.Ser1365Ile)
c.4055G>T (p.Ser1352Ile)
c.3986G>T (p.Ser1329Ile)
c.4043G>T (p.Ser1348Ile)
c.4052G>T (p.Ser1351Ile)
c.3569G>T (p.Ser1190Ile)
c.3299G>T (p.Ser1100Ile)
n.3963G>T
n.3948G>T
n.4864G>T
1g.5863933C>GCA338048911NPHP4c.4097G>C (p.Ser1366Thr)
n.3248G>C
c.*2998G>C (n.*2998G>C)
n.2845G>C
n.3829G>C
c.*1908G>C (n.*1908G>C)
c.2558G>C (p.Ser853Thr)
c.2561G>C (p.Ser854Thr)
n.4912G>C
c.4094G>C (p.Ser1365Thr)
c.4055G>C (p.Ser1352Thr)
c.3986G>C (p.Ser1329Thr)
c.4043G>C (p.Ser1348Thr)
c.4052G>C (p.Ser1351Thr)
c.3569G>C (p.Ser1190Thr)
c.3299G>C (p.Ser1100Thr)
n.3963G>C
n.3948G>C
n.4864G>C
1g.5863933C>TCA338048913NPHP4c.4097G>A (p.Ser1366Asn)
n.3248G>A
c.*2998G>A (n.*2998G>A)
n.2845G>A
n.3829G>A
c.*1908G>A (n.*1908G>A)
c.2558G>A (p.Ser853Asn)
c.2561G>A (p.Ser854Asn)
n.4912G>A
c.4094G>A (p.Ser1365Asn)
c.4055G>A (p.Ser1352Asn)
c.3986G>A (p.Ser1329Asn)
c.4043G>A (p.Ser1348Asn)
c.4052G>A (p.Ser1351Asn)
c.3569G>A (p.Ser1190Asn)
c.3299G>A (p.Ser1100Asn)
n.3963G>A
n.3948G>A
n.4864G>A
1g.5863934T>ACA338048917NPHP4c.4096A>T (p.Ser1366Cys)
n.3247A>T
c.*2997A>T (n.*2997A>T)
n.2844A>T
n.3828A>T
c.*1907A>T (n.*1907A>T)
c.2557A>T (p.Ser853Cys)
c.2560A>T (p.Ser854Cys)
n.4911A>T
c.4093A>T (p.Ser1365Cys)
c.4054A>T (p.Ser1352Cys)
c.3985A>T (p.Ser1329Cys)
c.4042A>T (p.Ser1348Cys)
c.4051A>T (p.Ser1351Cys)
c.3568A>T (p.Ser1190Cys)
c.3298A>T (p.Ser1100Cys)
n.3962A>T
n.3947A>T
n.4863A>T
 COSMIC
1g.5863934T>CCA338048919NPHP4c.4096A>G (p.Ser1366Gly)
n.3247A>G
c.*2997A>G (n.*2997A>G)
n.2844A>G
n.3828A>G
c.*1907A>G (n.*1907A>G)
c.2557A>G (p.Ser853Gly)
c.2560A>G (p.Ser854Gly)
n.4911A>G
c.4093A>G (p.Ser1365Gly)
c.4054A>G (p.Ser1352Gly)
c.3985A>G (p.Ser1329Gly)
c.4042A>G (p.Ser1348Gly)
c.4051A>G (p.Ser1351Gly)
c.3568A>G (p.Ser1190Gly)
c.3298A>G (p.Ser1100Gly)
n.3962A>G
n.3947A>G
n.4863A>G
1g.5863934T>GCA338048920NPHP4c.4096A>C (p.Ser1366Arg)
n.3247A>C
c.*2997A>C (n.*2997A>C)
n.2844A>C
n.3828A>C
c.*1907A>C (n.*1907A>C)
c.2557A>C (p.Ser853Arg)
c.2560A>C (p.Ser854Arg)
n.4911A>C
c.4093A>C (p.Ser1365Arg)
c.4054A>C (p.Ser1352Arg)
c.3985A>C (p.Ser1329Arg)
c.4042A>C (p.Ser1348Arg)
c.4051A>C (p.Ser1351Arg)
c.3568A>C (p.Ser1190Arg)
c.3298A>C (p.Ser1100Arg)
n.3962A>C
n.3947A>C
n.4863A>C
1g.5863935G>ACA415786978NPHP4c.4095C>T (p.His1365=)
n.3246C>T
c.*2996C>T (n.*2996C>T)
n.2843C>T
n.3827C>T
c.*1906C>T (n.*1906C>T)
c.2556C>T (p.His852=)
c.2559C>T (p.His853=)
n.4910C>T
c.4092C>T (p.His1364=)
c.4053C>T (p.His1351=)
c.3984C>T (p.His1328=)
c.4041C>T (p.His1347=)
c.4050C>T (p.His1350=)
c.3567C>T (p.His1189=)
c.3297C>T (p.His1099=)
n.3961C>T
n.3946C>T
n.4862C>T
1g.5863935G>CCA553356NPHP4c.4095C>G (p.His1365Gln)
n.3246C>G
c.*2996C>G (n.*2996C>G)
n.2843C>G
n.3827C>G
c.*1906C>G (n.*1906C>G)
c.2556C>G (p.His852Gln)
c.2559C>G (p.His853Gln)
n.4910C>G
c.4092C>G (p.His1364Gln)
c.4053C>G (p.His1351Gln)
c.3984C>G (p.His1328Gln)
c.4041C>G (p.His1347Gln)
c.4050C>G (p.His1350Gln)
c.3567C>G (p.His1189Gln)
c.3297C>G (p.His1099Gln)
n.3961C>G
n.3946C>G
n.4862C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.5863935G=CA1151209154NPHP4c.4095C= (p.His1365=)
n.3246C=
c.*2996C= (n.*2996C=)
n.2843C=
n.3827C=
c.*1906C= (n.*1906C=)
c.2556C= (p.His852=)
c.2559C= (p.His853=)
n.4910C=
c.4092C= (p.His1364=)
c.4053C= (p.His1351=)
c.3984C= (p.His1328=)
c.4041C= (p.His1347=)
c.4050C= (p.His1350=)
c.3567C= (p.His1189=)
c.3297C= (p.His1099=)
n.3961C=
n.3946C=
n.4862C=
1g.5863935G>TCA338048922NPHP4c.4095C>A (p.His1365Gln)
n.3246C>A
c.*2996C>A (n.*2996C>A)
n.2843C>A
n.3827C>A
c.*1906C>A (n.*1906C>A)
c.2556C>A (p.His852Gln)
c.2559C>A (p.His853Gln)
n.4910C>A
c.4092C>A (p.His1364Gln)
c.4053C>A (p.His1351Gln)
c.3984C>A (p.His1328Gln)
c.4041C>A (p.His1347Gln)
c.4050C>A (p.His1350Gln)
c.3567C>A (p.His1189Gln)
c.3297C>A (p.His1099Gln)
n.3961C>A
n.3946C>A
n.4862C>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.5863936T>ACA338048924NPHP4c.4094A>T (p.His1365Leu)
n.3245A>T
c.*2995A>T (n.*2995A>T)
n.2842A>T
n.3826A>T
c.*1905A>T (n.*1905A>T)
c.2555A>T (p.His852Leu)
c.2558A>T (p.His853Leu)
n.4909A>T
c.4091A>T (p.His1364Leu)
c.4052A>T (p.His1351Leu)
c.3983A>T (p.His1328Leu)
c.4040A>T (p.His1347Leu)
c.4049A>T (p.His1350Leu)
c.3566A>T (p.His1189Leu)
c.3296A>T (p.His1099Leu)
n.3960A>T
n.3945A>T
n.4861A>T
1g.5863936T>CCA338048927NPHP4c.4094A>G (p.His1365Arg)
n.3245A>G
c.*2995A>G (n.*2995A>G)
n.2842A>G
n.3826A>G
c.*1905A>G (n.*1905A>G)
c.2555A>G (p.His852Arg)
c.2558A>G (p.His853Arg)
n.4909A>G
c.4091A>G (p.His1364Arg)
c.4052A>G (p.His1351Arg)
c.3983A>G (p.His1328Arg)
c.4040A>G (p.His1347Arg)
c.4049A>G (p.His1350Arg)
c.3566A>G (p.His1189Arg)
c.3296A>G (p.His1099Arg)
n.3960A>G
n.3945A>G
n.4861A>G
 gnomAD v4
1g.5863936T>GCA338048925NPHP4c.4094A>C (p.His1365Pro)
n.3245A>C
c.*2995A>C (n.*2995A>C)
n.2842A>C
n.3826A>C
c.*1905A>C (n.*1905A>C)
c.2555A>C (p.His852Pro)
c.2558A>C (p.His853Pro)
n.4909A>C
c.4091A>C (p.His1364Pro)
c.4052A>C (p.His1351Pro)
c.3983A>C (p.His1328Pro)
c.4040A>C (p.His1347Pro)
c.4049A>C (p.His1350Pro)
c.3566A>C (p.His1189Pro)
c.3296A>C (p.His1099Pro)
n.3960A>C
n.3945A>C
n.4861A>C
1g.5863937G>ACA338048928NPHP4c.4093C>T (p.His1365Tyr)
n.3244C>T
c.*2994C>T (n.*2994C>T)
n.2841C>T
n.3825C>T
c.*1904C>T (n.*1904C>T)
c.2554C>T (p.His852Tyr)
c.2557C>T (p.His853Tyr)
n.4908C>T
c.4090C>T (p.His1364Tyr)
c.4051C>T (p.His1351Tyr)
c.3982C>T (p.His1328Tyr)
c.4039C>T (p.His1347Tyr)
c.4048C>T (p.His1350Tyr)
c.3565C>T (p.His1189Tyr)
c.3295C>T (p.His1099Tyr)
n.3959C>T
n.3944C>T
n.4860C>T
 ClinVar dbSNP
1g.5863937G>CCA338048930NPHP4c.4093C>G (p.His1365Asp)
n.3244C>G
c.*2994C>G (n.*2994C>G)
n.2841C>G
n.3825C>G
c.*1904C>G (n.*1904C>G)
c.2554C>G (p.His852Asp)
c.2557C>G (p.His853Asp)
n.4908C>G
c.4090C>G (p.His1364Asp)
c.4051C>G (p.His1351Asp)
c.3982C>G (p.His1328Asp)
c.4039C>G (p.His1347Asp)
c.4048C>G (p.His1350Asp)
c.3565C>G (p.His1189Asp)
c.3295C>G (p.His1099Asp)
n.3959C>G
n.3944C>G
n.4860C>G
1g.5863937G>TCA338048932NPHP4c.4093C>A (p.His1365Asn)
n.3244C>A
c.*2994C>A (n.*2994C>A)
n.2841C>A
n.3825C>A
c.*1904C>A (n.*1904C>A)
c.2554C>A (p.His852Asn)
c.2557C>A (p.His853Asn)
n.4908C>A
c.4090C>A (p.His1364Asn)
c.4051C>A (p.His1351Asn)
c.3982C>A (p.His1328Asn)
c.4039C>A (p.His1347Asn)
c.4048C>A (p.His1350Asn)
c.3565C>A (p.His1189Asn)
c.3295C>A (p.His1099Asn)
n.3959C>A
n.3944C>A
n.4860C>A
1g.5863938C>ACA415786991NPHP4c.4092G>T (p.Leu1364=)
n.3243G>T
c.*2993G>T (n.*2993G>T)
n.2840G>T
n.3824G>T
c.*1903G>T (n.*1903G>T)
c.2553G>T (p.Leu851=)
c.2556G>T (p.Leu852=)
n.4907G>T
c.4089G>T (p.Leu1363=)
c.4050G>T (p.Leu1350=)
c.3981G>T (p.Leu1327=)
c.4038G>T (p.Leu1346=)
c.4047G>T (p.Leu1349=)
c.3564G>T (p.Leu1188=)
c.3294G>T (p.Leu1098=)
n.3958G>T
n.3943G>T
n.4859G>T
1g.5863938C=CA1144101880NPHP4c.4092G= (p.Leu1364=)
n.3243G=
c.*2993G= (n.*2993G=)
n.2840G=
n.3824G=
c.*1903G= (n.*1903G=)
c.2553G= (p.Leu851=)
c.2556G= (p.Leu852=)
n.4907G=
c.4089G= (p.Leu1363=)
c.4050G= (p.Leu1350=)
c.3981G= (p.Leu1327=)
c.4038G= (p.Leu1346=)
c.4047G= (p.Leu1349=)
c.3564G= (p.Leu1188=)
c.3294G= (p.Leu1098=)
n.3958G=
n.3943G=
n.4859G=
1g.5863938C>GCA415786992NPHP4c.4092G>C (p.Leu1364=)
n.3243G>C
c.*2993G>C (n.*2993G>C)
n.2840G>C
n.3824G>C
c.*1903G>C (n.*1903G>C)
c.2553G>C (p.Leu851=)
c.2556G>C (p.Leu852=)
n.4907G>C
c.4089G>C (p.Leu1363=)
c.4050G>C (p.Leu1350=)
c.3981G>C (p.Leu1327=)
c.4038G>C (p.Leu1346=)
c.4047G>C (p.Leu1349=)
c.3564G>C (p.Leu1188=)
c.3294G>C (p.Leu1098=)
n.3958G>C
n.3943G>C
n.4859G>C
 ClinVar
1g.5863938C>TCA553357NPHP4c.4092G>A (p.Leu1364=)
n.3243G>A
c.*2993G>A (n.*2993G>A)
n.2840G>A
n.3824G>A
c.*1903G>A (n.*1903G>A)
c.2553G>A (p.Leu851=)
c.2556G>A (p.Leu852=)
n.4907G>A
c.4089G>A (p.Leu1363=)
c.4050G>A (p.Leu1350=)
c.3981G>A (p.Leu1327=)
c.4038G>A (p.Leu1346=)
c.4047G>A (p.Leu1349=)
c.3564G>A (p.Leu1188=)
c.3294G>A (p.Leu1098=)
n.3958G>A
n.3943G>A
n.4859G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5863939A=CA1151209162NPHP4c.4091T= (p.Leu1364=)
n.3242T=
c.*2992T= (n.*2992T=)
n.2839T=
n.3823T=
c.*1902T= (n.*1902T=)
c.2552T= (p.Leu851=)
c.2555T= (p.Leu852=)
n.4906T=
c.4088T= (p.Leu1363=)
c.4049T= (p.Leu1350=)
c.3980T= (p.Leu1327=)
c.4037T= (p.Leu1346=)
c.4046T= (p.Leu1349=)
c.3563T= (p.Leu1188=)
c.3293T= (p.Leu1098=)
n.3957T=
n.3942T=
n.4858T=
1g.5863939A>CCA338048934NPHP4c.4091T>G (p.Leu1364Arg)
n.3242T>G
c.*2992T>G (n.*2992T>G)
n.2839T>G
n.3823T>G
c.*1902T>G (n.*1902T>G)
c.2552T>G (p.Leu851Arg)
c.2555T>G (p.Leu852Arg)
n.4906T>G
c.4088T>G (p.Leu1363Arg)
c.4049T>G (p.Leu1350Arg)
c.3980T>G (p.Leu1327Arg)
c.4037T>G (p.Leu1346Arg)
c.4046T>G (p.Leu1349Arg)
c.3563T>G (p.Leu1188Arg)
c.3293T>G (p.Leu1098Arg)
n.3957T>G
n.3942T>G
n.4858T>G
1g.5863939A>GCA553358NPHP4c.4091T>C (p.Leu1364Pro)
n.3242T>C
c.*2992T>C (n.*2992T>C)
n.2839T>C
n.3823T>C
c.*1902T>C (n.*1902T>C)
c.2552T>C (p.Leu851Pro)
c.2555T>C (p.Leu852Pro)
n.4906T>C
c.4088T>C (p.Leu1363Pro)
c.4049T>C (p.Leu1350Pro)
c.3980T>C (p.Leu1327Pro)
c.4037T>C (p.Leu1346Pro)
c.4046T>C (p.Leu1349Pro)
c.3563T>C (p.Leu1188Pro)
c.3293T>C (p.Leu1098Pro)
n.3957T>C
n.3942T>C
n.4858T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5863939A>TCA338048935NPHP4c.4091T>A (p.Leu1364Gln)
n.3242T>A
c.*2992T>A (n.*2992T>A)
n.2839T>A
n.3823T>A
c.*1902T>A (n.*1902T>A)
c.2552T>A (p.Leu851Gln)
c.2555T>A (p.Leu852Gln)
n.4906T>A
c.4088T>A (p.Leu1363Gln)
c.4049T>A (p.Leu1350Gln)
c.3980T>A (p.Leu1327Gln)
c.4037T>A (p.Leu1346Gln)
c.4046T>A (p.Leu1349Gln)
c.3563T>A (p.Leu1188Gln)
c.3293T>A (p.Leu1098Gln)
n.3957T>A
n.3942T>A
n.4858T>A
 dbSNP gnomAD v2 gnomAD v4
1g.5863940G>ACA415786993NPHP4c.4090C>T (p.Leu1364=)
n.3241C>T
c.*2991C>T (n.*2991C>T)
n.2838C>T
n.3822C>T
c.*1901C>T (n.*1901C>T)
c.2551C>T (p.Leu851=)
c.2554C>T (p.Leu852=)
n.4905C>T
c.4087C>T (p.Leu1363=)
c.4048C>T (p.Leu1350=)
c.3979C>T (p.Leu1327=)
c.4036C>T (p.Leu1346=)
c.4045C>T (p.Leu1349=)
c.3562C>T (p.Leu1188=)
c.3292C>T (p.Leu1098=)
n.3956C>T
n.3941C>T
n.4857C>T
1g.5863940G>CCA338048938NPHP4c.4090C>G (p.Leu1364Val)
n.3241C>G
c.*2991C>G (n.*2991C>G)
n.2838C>G
n.3822C>G
c.*1901C>G (n.*1901C>G)
c.2551C>G (p.Leu851Val)
c.2554C>G (p.Leu852Val)
n.4905C>G
c.4087C>G (p.Leu1363Val)
c.4048C>G (p.Leu1350Val)
c.3979C>G (p.Leu1327Val)
c.4036C>G (p.Leu1346Val)
c.4045C>G (p.Leu1349Val)
c.3562C>G (p.Leu1188Val)
c.3292C>G (p.Leu1098Val)
n.3956C>G
n.3941C>G
n.4857C>G
1g.5863940G>TCA338048939NPHP4c.4090C>A (p.Leu1364Met)
n.3241C>A
c.*2991C>A (n.*2991C>A)
n.2838C>A
n.3822C>A
c.*1901C>A (n.*1901C>A)
c.2551C>A (p.Leu851Met)
c.2554C>A (p.Leu852Met)
n.4905C>A
c.4087C>A (p.Leu1363Met)
c.4048C>A (p.Leu1350Met)
c.3979C>A (p.Leu1327Met)
c.4036C>A (p.Leu1346Met)
c.4045C>A (p.Leu1349Met)
c.3562C>A (p.Leu1188Met)
c.3292C>A (p.Leu1098Met)
n.3956C>A
n.3941C>A
n.4857C>A
 COSMIC
1g.5863941G>ACA553359NPHP4c.4089C>T (p.His1363=)
n.3240C>T
c.*2990C>T (n.*2990C>T)
n.2837C>T
n.3821C>T
c.*1900C>T (n.*1900C>T)
c.2550C>T (p.His850=)
c.2553C>T (p.His851=)
n.4904C>T
c.4086C>T (p.His1362=)
c.4047C>T (p.His1349=)
c.3978C>T (p.His1326=)
c.4035C>T (p.His1345=)
c.4044C>T (p.His1348=)
c.3561C>T (p.His1187=)
c.3291C>T (p.His1097=)
n.3955C>T
n.3940C>T
n.4856C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.5863941G>CCA338048942NPHP4c.4089C>G (p.His1363Gln)
n.3240C>G
c.*2990C>G (n.*2990C>G)
n.2837C>G
n.3821C>G
c.*1900C>G (n.*1900C>G)
c.2550C>G (p.His850Gln)
c.2553C>G (p.His851Gln)
n.4904C>G
c.4086C>G (p.His1362Gln)
c.4047C>G (p.His1349Gln)
c.3978C>G (p.His1326Gln)
c.4035C>G (p.His1345Gln)
c.4044C>G (p.His1348Gln)
c.3561C>G (p.His1187Gln)
c.3291C>G (p.His1097Gln)
n.3955C>G
n.3940C>G
n.4856C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.5863941G=CA1151209165NPHP4c.4089C= (p.His1363=)
n.3240C=
c.*2990C= (n.*2990C=)
n.2837C=
n.3821C=
c.*1900C= (n.*1900C=)
c.2550C= (p.His850=)
c.2553C= (p.His851=)
n.4904C=
c.4086C= (p.His1362=)
c.4047C= (p.His1349=)
c.3978C= (p.His1326=)
c.4035C= (p.His1345=)
c.4044C= (p.His1348=)
c.3561C= (p.His1187=)
c.3291C= (p.His1097=)
n.3955C=
n.3940C=
n.4856C=
1g.5863941G>TCA338048944NPHP4c.4089C>A (p.His1363Gln)
n.3240C>A
c.*2990C>A (n.*2990C>A)
n.2837C>A
n.3821C>A
c.*1900C>A (n.*1900C>A)
c.2550C>A (p.His850Gln)
c.2553C>A (p.His851Gln)
n.4904C>A
c.4086C>A (p.His1362Gln)
c.4047C>A (p.His1349Gln)
c.3978C>A (p.His1326Gln)
c.4035C>A (p.His1345Gln)
c.4044C>A (p.His1348Gln)
c.3561C>A (p.His1187Gln)
c.3291C>A (p.His1097Gln)
n.3955C>A
n.3940C>A
n.4856C>A
1g.5863942T>ACA338048945NPHP4c.4088A>T (p.His1363Leu)
n.3239A>T
c.*2989A>T (n.*2989A>T)
n.2836A>T
n.3820A>T
c.*1899A>T (n.*1899A>T)
c.2549A>T (p.His850Leu)
c.2552A>T (p.His851Leu)
n.4903A>T
c.4085A>T (p.His1362Leu)
c.4046A>T (p.His1349Leu)
c.3977A>T (p.His1326Leu)
c.4034A>T (p.His1345Leu)
c.4043A>T (p.His1348Leu)
c.3560A>T (p.His1187Leu)
c.3290A>T (p.His1097Leu)
n.3954A>T
n.3939A>T
n.4855A>T
1g.5863942T>CCA553360NPHP4c.4088A>G (p.His1363Arg)
n.3239A>G
c.*2989A>G (n.*2989A>G)
n.2836A>G
n.3820A>G
c.*1899A>G (n.*1899A>G)
c.2549A>G (p.His850Arg)
c.2552A>G (p.His851Arg)
n.4903A>G
c.4085A>G (p.His1362Arg)
c.4046A>G (p.His1349Arg)
c.3977A>G (p.His1326Arg)
c.4034A>G (p.His1345Arg)
c.4043A>G (p.His1348Arg)
c.3560A>G (p.His1187Arg)
c.3290A>G (p.His1097Arg)
n.3954A>G
n.3939A>G
n.4855A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5863942T>GCA338048949NPHP4c.4088A>C (p.His1363Pro)
n.3239A>C
c.*2989A>C (n.*2989A>C)
n.2836A>C
n.3820A>C
c.*1899A>C (n.*1899A>C)
c.2549A>C (p.His850Pro)
c.2552A>C (p.His851Pro)
n.4903A>C
c.4085A>C (p.His1362Pro)
c.4046A>C (p.His1349Pro)
c.3977A>C (p.His1326Pro)
c.4034A>C (p.His1345Pro)
c.4043A>C (p.His1348Pro)
c.3560A>C (p.His1187Pro)
c.3290A>C (p.His1097Pro)
n.3954A>C
n.3939A>C
n.4855A>C
 dbSNP
1g.5863942T=CA1147127733NPHP4c.4088A= (p.His1363=)
n.3239A=
c.*2989A= (n.*2989A=)
n.2836A=
n.3820A=
c.*1899A= (n.*1899A=)
c.2549A= (p.His850=)
c.2552A= (p.His851=)
n.4903A=
c.4085A= (p.His1362=)
c.4046A= (p.His1349=)
c.3977A= (p.His1326=)
c.4034A= (p.His1345=)
c.4043A= (p.His1348=)
c.3560A= (p.His1187=)
c.3290A= (p.His1097=)
n.3954A=
n.3939A=
n.4855A=
1g.5863943G>ACA338048951NPHP4c.4087C>T (p.His1363Tyr)
n.3238C>T
c.*2988C>T (n.*2988C>T)
n.2835C>T
n.3819C>T
c.*1898C>T (n.*1898C>T)
c.2548C>T (p.His850Tyr)
c.2551C>T (p.His851Tyr)
n.4902C>T
c.4084C>T (p.His1362Tyr)
c.4045C>T (p.His1349Tyr)
c.3976C>T (p.His1326Tyr)
c.4033C>T (p.His1345Tyr)
c.4042C>T (p.His1348Tyr)
c.3559C>T (p.His1187Tyr)
c.3289C>T (p.His1097Tyr)
n.3953C>T
n.3938C>T
n.4854C>T
1g.5863943G>CCA338048953NPHP4c.4087C>G (p.His1363Asp)
n.3238C>G
c.*2988C>G (n.*2988C>G)
n.2835C>G
n.3819C>G
c.*1898C>G (n.*1898C>G)
c.2548C>G (p.His850Asp)
c.2551C>G (p.His851Asp)
n.4902C>G
c.4084C>G (p.His1362Asp)
c.4045C>G (p.His1349Asp)
c.3976C>G (p.His1326Asp)
c.4033C>G (p.His1345Asp)
c.4042C>G (p.His1348Asp)
c.3559C>G (p.His1187Asp)
c.3289C>G (p.His1097Asp)
n.3953C>G
n.3938C>G
n.4854C>G
1g.5863943G>TCA338048954NPHP4c.4087C>A (p.His1363Asn)
n.3238C>A
c.*2988C>A (n.*2988C>A)
n.2835C>A
n.3819C>A
c.*1898C>A (n.*1898C>A)
c.2548C>A (p.His850Asn)
c.2551C>A (p.His851Asn)
n.4902C>A
c.4084C>A (p.His1362Asn)
c.4045C>A (p.His1349Asn)
c.3976C>A (p.His1326Asn)
c.4033C>A (p.His1345Asn)
c.4042C>A (p.His1348Asn)
c.3559C>A (p.His1187Asn)
c.3289C>A (p.His1097Asn)
n.3953C>A
n.3938C>A
n.4854C>A
1g.5863944G>ACA415786996NPHP4c.4086C>T (p.Phe1362=)
n.3237C>T
c.*2987C>T (n.*2987C>T)
n.2834C>T
n.3818C>T
c.*1897C>T (n.*1897C>T)
c.2547C>T (p.Phe849=)
c.2550C>T (p.Phe850=)
n.4901C>T
c.4083C>T (p.Phe1361=)
c.4044C>T (p.Phe1348=)
c.3975C>T (p.Phe1325=)
c.4032C>T (p.Phe1344=)
c.4041C>T (p.Phe1347=)
c.3558C>T (p.Phe1186=)
c.3288C>T (p.Phe1096=)
n.3952C>T
n.3937C>T
n.4853C>T
1g.5863944G>CCA338048956NPHP4c.4086C>G (p.Phe1362Leu)
n.3237C>G
c.*2987C>G (n.*2987C>G)
n.2834C>G
n.3818C>G
c.*1897C>G (n.*1897C>G)
c.2547C>G (p.Phe849Leu)
c.2550C>G (p.Phe850Leu)
n.4901C>G
c.4083C>G (p.Phe1361Leu)
c.4044C>G (p.Phe1348Leu)
c.3975C>G (p.Phe1325Leu)
c.4032C>G (p.Phe1344Leu)
c.4041C>G (p.Phe1347Leu)
c.3558C>G (p.Phe1186Leu)
c.3288C>G (p.Phe1096Leu)
n.3952C>G
n.3937C>G
n.4853C>G
1g.5863944G>TCA338048958NPHP4c.4086C>A (p.Phe1362Leu)
n.3237C>A
c.*2987C>A (n.*2987C>A)
n.2834C>A
n.3818C>A
c.*1897C>A (n.*1897C>A)
c.2547C>A (p.Phe849Leu)
c.2550C>A (p.Phe850Leu)
n.4901C>A
c.4083C>A (p.Phe1361Leu)
c.4044C>A (p.Phe1348Leu)
c.3975C>A (p.Phe1325Leu)
c.4032C>A (p.Phe1344Leu)
c.4041C>A (p.Phe1347Leu)
c.3558C>A (p.Phe1186Leu)
c.3288C>A (p.Phe1096Leu)
n.3952C>A
n.3937C>A
n.4853C>A
1g.5863945A=CA1151209170NPHP4c.4085T= (p.Phe1362=)
n.3236T=
c.*2986T= (n.*2986T=)
n.2833T=
n.3817T=
c.*1896T= (n.*1896T=)
c.2546T= (p.Phe849=)
c.2549T= (p.Phe850=)
n.4900T=
c.4082T= (p.Phe1361=)
c.4043T= (p.Phe1348=)
c.3974T= (p.Phe1325=)
c.4031T= (p.Phe1344=)
c.4040T= (p.Phe1347=)
c.3557T= (p.Phe1186=)
c.3287T= (p.Phe1096=)
n.3951T=
n.3936T=
n.4852T=
1g.5863945A>CCA338048960NPHP4c.4085T>G (p.Phe1362Cys)
n.3236T>G
c.*2986T>G (n.*2986T>G)
n.2833T>G
n.3817T>G
c.*1896T>G (n.*1896T>G)
c.2546T>G (p.Phe849Cys)
c.2549T>G (p.Phe850Cys)
n.4900T>G
c.4082T>G (p.Phe1361Cys)
c.4043T>G (p.Phe1348Cys)
c.3974T>G (p.Phe1325Cys)
c.4031T>G (p.Phe1344Cys)
c.4040T>G (p.Phe1347Cys)
c.3557T>G (p.Phe1186Cys)
c.3287T>G (p.Phe1096Cys)
n.3951T>G
n.3936T>G
n.4852T>G
 dbSNP
1g.5863945A>GCA338048961NPHP4c.4085T>C (p.Phe1362Ser)
n.3236T>C
c.*2986T>C (n.*2986T>C)
n.2833T>C
n.3817T>C
c.*1896T>C (n.*1896T>C)
c.2546T>C (p.Phe849Ser)
c.2549T>C (p.Phe850Ser)
n.4900T>C
c.4082T>C (p.Phe1361Ser)
c.4043T>C (p.Phe1348Ser)
c.3974T>C (p.Phe1325Ser)
c.4031T>C (p.Phe1344Ser)
c.4040T>C (p.Phe1347Ser)
c.3557T>C (p.Phe1186Ser)
c.3287T>C (p.Phe1096Ser)
n.3951T>C
n.3936T>C
n.4852T>C
1g.5863945A>TCA338048963NPHP4c.4085T>A (p.Phe1362Tyr)
n.3236T>A
c.*2986T>A (n.*2986T>A)
n.2833T>A
n.3817T>A
c.*1896T>A (n.*1896T>A)
c.2546T>A (p.Phe849Tyr)
c.2549T>A (p.Phe850Tyr)
n.4900T>A
c.4082T>A (p.Phe1361Tyr)
c.4043T>A (p.Phe1348Tyr)
c.3974T>A (p.Phe1325Tyr)
c.4031T>A (p.Phe1344Tyr)
c.4040T>A (p.Phe1347Tyr)
c.3557T>A (p.Phe1186Tyr)
c.3287T>A (p.Phe1096Tyr)
n.3951T>A
n.3936T>A
n.4852T>A
1g.5863946A=CA1151209175NPHP4c.4084T= (p.Phe1362=)
n.3235T=
c.*2985T= (n.*2985T=)
n.2832T=
n.3816T=
c.*1895T= (n.*1895T=)
c.2545T= (p.Phe849=)
c.2548T= (p.Phe850=)
n.4899T=
c.4081T= (p.Phe1361=)
c.4042T= (p.Phe1348=)
c.3973T= (p.Phe1325=)
c.4030T= (p.Phe1344=)
c.4039T= (p.Phe1347=)
c.3556T= (p.Phe1186=)
c.3286T= (p.Phe1096=)
n.3950T=
n.3935T=
n.4851T=
1g.5863946A>CCA338048965NPHP4c.4084T>G (p.Phe1362Val)
n.3235T>G
c.*2985T>G (n.*2985T>G)
n.2832T>G
n.3816T>G
c.*1895T>G (n.*1895T>G)
c.2545T>G (p.Phe849Val)
c.2548T>G (p.Phe850Val)
n.4899T>G
c.4081T>G (p.Phe1361Val)
c.4042T>G (p.Phe1348Val)
c.3973T>G (p.Phe1325Val)
c.4030T>G (p.Phe1344Val)
c.4039T>G (p.Phe1347Val)
c.3556T>G (p.Phe1186Val)
c.3286T>G (p.Phe1096Val)
n.3950T>G
n.3935T>G
n.4851T>G
1g.5863946A>GCA553361NPHP4c.4084T>C (p.Phe1362Leu)
n.3235T>C
c.*2985T>C (n.*2985T>C)
n.2832T>C
n.3816T>C
c.*1895T>C (n.*1895T>C)
c.2545T>C (p.Phe849Leu)
c.2548T>C (p.Phe850Leu)
n.4899T>C
c.4081T>C (p.Phe1361Leu)
c.4042T>C (p.Phe1348Leu)
c.3973T>C (p.Phe1325Leu)
c.4030T>C (p.Phe1344Leu)
c.4039T>C (p.Phe1347Leu)
c.3556T>C (p.Phe1186Leu)
c.3286T>C (p.Phe1096Leu)
n.3950T>C
n.3935T>C
n.4851T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.5863946A>TCA338048968NPHP4c.4084T>A (p.Phe1362Ile)
n.3235T>A
c.*2985T>A (n.*2985T>A)
n.2832T>A
n.3816T>A
c.*1895T>A (n.*1895T>A)
c.2545T>A (p.Phe849Ile)
c.2548T>A (p.Phe850Ile)
n.4899T>A
c.4081T>A (p.Phe1361Ile)
c.4042T>A (p.Phe1348Ile)
c.3973T>A (p.Phe1325Ile)
c.4030T>A (p.Phe1344Ile)
c.4039T>A (p.Phe1347Ile)
c.3556T>A (p.Phe1186Ile)
c.3286T>A (p.Phe1096Ile)
n.3950T>A
n.3935T>A
n.4851T>A
1g.5863947T>ACA415786999NPHP4c.4083A>T (p.Thr1361=)
n.3234A>T
c.*2984A>T (n.*2984A>T)
n.2831A>T
n.3815A>T
c.*1894A>T (n.*1894A>T)
c.2544A>T (p.Thr848=)
c.2547A>T (p.Thr849=)
n.4898A>T
c.4080A>T (p.Thr1360=)
c.4041A>T (p.Thr1347=)
c.3972A>T (p.Thr1324=)
c.4029A>T (p.Thr1343=)
c.4038A>T (p.Thr1346=)
c.3555A>T (p.Thr1185=)
c.3285A>T (p.Thr1095=)
n.3949A>T
n.3934A>T
n.4850A>T
1g.5863947T>CCA415786998NPHP4c.4083A>G (p.Thr1361=)
n.3234A>G
c.*2984A>G (n.*2984A>G)
n.2831A>G
n.3815A>G
c.*1894A>G (n.*1894A>G)
c.2544A>G (p.Thr848=)
c.2547A>G (p.Thr849=)
n.4898A>G
c.4080A>G (p.Thr1360=)
c.4041A>G (p.Thr1347=)
c.3972A>G (p.Thr1324=)
c.4029A>G (p.Thr1343=)
c.4038A>G (p.Thr1346=)
c.3555A>G (p.Thr1185=)
c.3285A>G (p.Thr1095=)
n.3949A>G
n.3934A>G
n.4850A>G
 dbSNP
1g.5863947T>GCA415786997NPHP4c.4083A>C (p.Thr1361=)
n.3234A>C
c.*2984A>C (n.*2984A>C)
n.2831A>C
n.3815A>C
c.*1894A>C (n.*1894A>C)
c.2544A>C (p.Thr848=)
c.2547A>C (p.Thr849=)
n.4898A>C
c.4080A>C (p.Thr1360=)
c.4041A>C (p.Thr1347=)
c.3972A>C (p.Thr1324=)
c.4029A>C (p.Thr1343=)
c.4038A>C (p.Thr1346=)
c.3555A>C (p.Thr1185=)
c.3285A>C (p.Thr1095=)
n.3949A>C
n.3934A>C
n.4850A>C
1g.5863948G>ACA338048970NPHP4c.4082C>T (p.Thr1361Ile)
n.3233C>T
c.*2983C>T (n.*2983C>T)
n.2830C>T
n.3814C>T
c.*1893C>T (n.*1893C>T)
c.2543C>T (p.Thr848Ile)
c.2546C>T (p.Thr849Ile)
n.4897C>T
c.4079C>T (p.Thr1360Ile)
c.4040C>T (p.Thr1347Ile)
c.3971C>T (p.Thr1324Ile)
c.4028C>T (p.Thr1343Ile)
c.4037C>T (p.Thr1346Ile)
c.3554C>T (p.Thr1185Ile)
c.3284C>T (p.Thr1095Ile)
n.3948C>T
n.3933C>T
n.4849C>T
1g.5863948G>CCA338048971NPHP4c.4082C>G (p.Thr1361Arg)
n.3233C>G
c.*2983C>G (n.*2983C>G)
n.2830C>G
n.3814C>G
c.*1893C>G (n.*1893C>G)
c.2543C>G (p.Thr848Arg)
c.2546C>G (p.Thr849Arg)
n.4897C>G
c.4079C>G (p.Thr1360Arg)
c.4040C>G (p.Thr1347Arg)
c.3971C>G (p.Thr1324Arg)
c.4028C>G (p.Thr1343Arg)
c.4037C>G (p.Thr1346Arg)
c.3554C>G (p.Thr1185Arg)
c.3284C>G (p.Thr1095Arg)
n.3948C>G
n.3933C>G
n.4849C>G
1g.5863948G>TCA338048973NPHP4c.4082C>A (p.Thr1361Lys)
n.3233C>A
c.*2983C>A (n.*2983C>A)
n.2830C>A
n.3814C>A
c.*1893C>A (n.*1893C>A)
c.2543C>A (p.Thr848Lys)
c.2546C>A (p.Thr849Lys)
n.4897C>A
c.4079C>A (p.Thr1360Lys)
c.4040C>A (p.Thr1347Lys)
c.3971C>A (p.Thr1324Lys)
c.4028C>A (p.Thr1343Lys)
c.4037C>A (p.Thr1346Lys)
c.3554C>A (p.Thr1185Lys)
c.3284C>A (p.Thr1095Lys)
n.3948C>A
n.3933C>A
n.4849C>A
1g.5863949T>ACA338048975NPHP4c.4081A>T (p.Thr1361Ser)
n.3232A>T
c.*2982A>T (n.*2982A>T)
n.2829A>T
n.3813A>T
c.*1892A>T (n.*1892A>T)
c.2542A>T (p.Thr848Ser)
c.2545A>T (p.Thr849Ser)
n.4896A>T
c.4078A>T (p.Thr1360Ser)
c.4039A>T (p.Thr1347Ser)
c.3970A>T (p.Thr1324Ser)
c.4027A>T (p.Thr1343Ser)
c.4036A>T (p.Thr1346Ser)
c.3553A>T (p.Thr1185Ser)
c.3283A>T (p.Thr1095Ser)
n.3947A>T
n.3932A>T
n.4848A>T
1g.5863949T>CCA338048977NPHP4c.4081A>G (p.Thr1361Ala)
n.3232A>G
c.*2982A>G (n.*2982A>G)
n.2829A>G
n.3813A>G
c.*1892A>G (n.*1892A>G)
c.2542A>G (p.Thr848Ala)
c.2545A>G (p.Thr849Ala)
n.4896A>G
c.4078A>G (p.Thr1360Ala)
c.4039A>G (p.Thr1347Ala)
c.3970A>G (p.Thr1324Ala)
c.4027A>G (p.Thr1343Ala)
c.4036A>G (p.Thr1346Ala)
c.3553A>G (p.Thr1185Ala)
c.3283A>G (p.Thr1095Ala)
n.3947A>G
n.3932A>G
n.4848A>G
1g.5863949T>GCA338048978NPHP4c.4081A>C (p.Thr1361Pro)
n.3232A>C
c.*2982A>C (n.*2982A>C)
n.2829A>C
n.3813A>C
c.*1892A>C (n.*1892A>C)
c.2542A>C (p.Thr848Pro)
c.2545A>C (p.Thr849Pro)
n.4896A>C
c.4078A>C (p.Thr1360Pro)
c.4039A>C (p.Thr1347Pro)
c.3970A>C (p.Thr1324Pro)
c.4027A>C (p.Thr1343Pro)
c.4036A>C (p.Thr1346Pro)
c.3553A>C (p.Thr1185Pro)
c.3283A>C (p.Thr1095Pro)
n.3947A>C
n.3932A>C
n.4848A>C
1g.5863950C>ACA338048982NPHP4c.4080G>T (p.Arg1360Ser)
n.3231G>T
c.*2981G>T (n.*2981G>T)
n.2828G>T
n.3812G>T
c.*1891G>T (n.*1891G>T)
c.2541G>T (p.Arg847Ser)
c.2544G>T (p.Arg848Ser)
n.4895G>T
c.4077G>T (p.Arg1359Ser)
c.4038G>T (p.Arg1346Ser)
c.3969G>T (p.Arg1323Ser)
c.4026G>T (p.Arg1342Ser)
c.4035G>T (p.Arg1345Ser)
c.3552G>T (p.Arg1184Ser)
c.3282G>T (p.Arg1094Ser)
n.3946G>T
n.3931G>T
n.4847G>T
1g.5863950C=CA1151209178NPHP4c.4080G= (p.Arg1360=)
n.3231G=
c.*2981G= (n.*2981G=)
n.2828G=
n.3812G=
c.*1891G= (n.*1891G=)
c.2541G= (p.Arg847=)
c.2544G= (p.Arg848=)
n.4895G=
c.4077G= (p.Arg1359=)
c.4038G= (p.Arg1346=)
c.3969G= (p.Arg1323=)
c.4026G= (p.Arg1342=)
c.4035G= (p.Arg1345=)
c.3552G= (p.Arg1184=)
c.3282G= (p.Arg1094=)
n.3946G=
n.3931G=
n.4847G=
1g.5863950C>GCA338048983NPHP4c.4080G>C (p.Arg1360Ser)
n.3231G>C
c.*2981G>C (n.*2981G>C)
n.2828G>C
n.3812G>C
c.*1891G>C (n.*1891G>C)
c.2541G>C (p.Arg847Ser)
c.2544G>C (p.Arg848Ser)
n.4895G>C
c.4077G>C (p.Arg1359Ser)
c.4038G>C (p.Arg1346Ser)
c.3969G>C (p.Arg1323Ser)
c.4026G>C (p.Arg1342Ser)
c.4035G>C (p.Arg1345Ser)
c.3552G>C (p.Arg1184Ser)
c.3282G>C (p.Arg1094Ser)
n.3946G>C
n.3931G>C
n.4847G>C
1g.5863950C>TCA553362NPHP4c.4080G>A (p.Arg1360=)
n.3231G>A
c.*2981G>A (n.*2981G>A)
n.2828G>A
n.3812G>A
c.*1891G>A (n.*1891G>A)
c.2541G>A (p.Arg847=)
c.2544G>A (p.Arg848=)
n.4895G>A
c.4077G>A (p.Arg1359=)
c.4038G>A (p.Arg1346=)
c.3969G>A (p.Arg1323=)
c.4026G>A (p.Arg1342=)
c.4035G>A (p.Arg1345=)
c.3552G>A (p.Arg1184=)
c.3282G>A (p.Arg1094=)
n.3946G>A
n.3931G>A
n.4847G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5863951C>ACA338048985NPHP4c.4079G>T (p.Arg1360Met)
n.3230G>T
c.*2980G>T (n.*2980G>T)
n.2827G>T
n.3811G>T
c.*1890G>T (n.*1890G>T)
c.2540G>T (p.Arg847Met)
c.2543G>T (p.Arg848Met)
n.4894G>T
c.4076G>T (p.Arg1359Met)
c.4037G>T (p.Arg1346Met)
c.3968G>T (p.Arg1323Met)
c.4025G>T (p.Arg1342Met)
c.4034G>T (p.Arg1345Met)
c.3551G>T (p.Arg1184Met)
c.3281G>T (p.Arg1094Met)
n.3945G>T
n.3930G>T
n.4846G>T
1g.5863951C>GCA338048987NPHP4c.4079G>C (p.Arg1360Thr)
n.3230G>C
c.*2980G>C (n.*2980G>C)
n.2827G>C
n.3811G>C
c.*1890G>C (n.*1890G>C)
c.2540G>C (p.Arg847Thr)
c.2543G>C (p.Arg848Thr)
n.4894G>C
c.4076G>C (p.Arg1359Thr)
c.4037G>C (p.Arg1346Thr)
c.3968G>C (p.Arg1323Thr)
c.4025G>C (p.Arg1342Thr)
c.4034G>C (p.Arg1345Thr)
c.3551G>C (p.Arg1184Thr)
c.3281G>C (p.Arg1094Thr)
n.3945G>C
n.3930G>C
n.4846G>C
 gnomAD v4
1g.5863951C>TCA338048988NPHP4c.4079G>A (p.Arg1360Lys)
n.3230G>A
c.*2980G>A (n.*2980G>A)
n.2827G>A
n.3811G>A
c.*1890G>A (n.*1890G>A)
c.2540G>A (p.Arg847Lys)
c.2543G>A (p.Arg848Lys)
n.4894G>A
c.4076G>A (p.Arg1359Lys)
c.4037G>A (p.Arg1346Lys)
c.3968G>A (p.Arg1323Lys)
c.4025G>A (p.Arg1342Lys)
c.4034G>A (p.Arg1345Lys)
c.3551G>A (p.Arg1184Lys)
c.3281G>A (p.Arg1094Lys)
n.3945G>A
n.3930G>A
n.4846G>A
1g.5863952T>ACA338048990NPHP4c.4078A>T (p.Arg1360Trp)
n.3229A>T
c.*2979A>T (n.*2979A>T)
n.2826A>T
n.3810A>T
c.*1889A>T (n.*1889A>T)
c.2539A>T (p.Arg847Trp)
c.2542A>T (p.Arg848Trp)
n.4893A>T
c.4075A>T (p.Arg1359Trp)
c.4036A>T (p.Arg1346Trp)
c.3967A>T (p.Arg1323Trp)
c.4024A>T (p.Arg1342Trp)
c.4033A>T (p.Arg1345Trp)
c.3550A>T (p.Arg1184Trp)
c.3280A>T (p.Arg1094Trp)
n.3944A>T
n.3929A>T
n.4845A>T
1g.5863952T>CCA338048991NPHP4c.4078A>G (p.Arg1360Gly)
n.3229A>G
c.*2979A>G (n.*2979A>G)
n.2826A>G
n.3810A>G
c.*1889A>G (n.*1889A>G)
c.2539A>G (p.Arg847Gly)
c.2542A>G (p.Arg848Gly)
n.4893A>G
c.4075A>G (p.Arg1359Gly)
c.4036A>G (p.Arg1346Gly)
c.3967A>G (p.Arg1323Gly)
c.4024A>G (p.Arg1342Gly)
c.4033A>G (p.Arg1345Gly)
c.3550A>G (p.Arg1184Gly)
c.3280A>G (p.Arg1094Gly)
n.3944A>G
n.3929A>G
n.4845A>G
1g.5863952T>GCA415787000NPHP4c.4078A>C (p.Arg1360=)
n.3229A>C
c.*2979A>C (n.*2979A>C)
n.2826A>C
n.3810A>C
c.*1889A>C (n.*1889A>C)
c.2539A>C (p.Arg847=)
c.2542A>C (p.Arg848=)
n.4893A>C
c.4075A>C (p.Arg1359=)
c.4036A>C (p.Arg1346=)
c.3967A>C (p.Arg1323=)
c.4024A>C (p.Arg1342=)
c.4033A>C (p.Arg1345=)
c.3550A>C (p.Arg1184=)
c.3280A>C (p.Arg1094=)
n.3944A>C
n.3929A>C
n.4845A>C
1g.5863953C>ACA415787001NPHP4c.4077G>T (p.Arg1359=)
n.3228G>T
c.*2978G>T (n.*2978G>T)
n.2825G>T
n.3809G>T
c.*1888G>T (n.*1888G>T)
c.2538G>T (p.Arg846=)
c.2541G>T (p.Arg847=)
n.4892G>T
c.4074G>T (p.Arg1358=)
c.4035G>T (p.Arg1345=)
c.3966G>T (p.Arg1322=)
c.4023G>T (p.Arg1341=)
c.4032G>T (p.Arg1344=)
c.3549G>T (p.Arg1183=)
c.3279G>T (p.Arg1093=)
n.3943G>T
n.3928G>T
n.4844G>T
1g.5863953C>GCA415787003NPHP4c.4077G>C (p.Arg1359=)
n.3228G>C
c.*2978G>C (n.*2978G>C)
n.2825G>C
n.3809G>C
c.*1888G>C (n.*1888G>C)
c.2538G>C (p.Arg846=)
c.2541G>C (p.Arg847=)
n.4892G>C
c.4074G>C (p.Arg1358=)
c.4035G>C (p.Arg1345=)
c.3966G>C (p.Arg1322=)
c.4023G>C (p.Arg1341=)
c.4032G>C (p.Arg1344=)
c.3549G>C (p.Arg1183=)
c.3279G>C (p.Arg1093=)
n.3943G>C
n.3928G>C
n.4844G>C
1g.5863953C>TCA415787002NPHP4c.4077G>A (p.Arg1359=)
n.3228G>A
c.*2978G>A (n.*2978G>A)
n.2825G>A
n.3809G>A
c.*1888G>A (n.*1888G>A)
c.2538G>A (p.Arg846=)
c.2541G>A (p.Arg847=)
n.4892G>A
c.4074G>A (p.Arg1358=)
c.4035G>A (p.Arg1345=)
c.3966G>A (p.Arg1322=)
c.4023G>A (p.Arg1341=)
c.4032G>A (p.Arg1344=)
c.3549G>A (p.Arg1183=)
c.3279G>A (p.Arg1093=)
n.3943G>A
n.3928G>A
n.4844G>A
 gnomAD v4
1g.5863954C>ACA338048996NPHP4c.4076G>T (p.Arg1359Leu)
n.3227G>T
c.*2977G>T (n.*2977G>T)
n.2824G>T
n.3808G>T
c.*1887G>T (n.*1887G>T)
c.2537G>T (p.Arg846Leu)
c.2540G>T (p.Arg847Leu)
n.4891G>T
c.4073G>T (p.Arg1358Leu)
c.4034G>T (p.Arg1345Leu)
c.3965G>T (p.Arg1322Leu)
c.4022G>T (p.Arg1341Leu)
c.4031G>T (p.Arg1344Leu)
c.3548G>T (p.Arg1183Leu)
c.3278G>T (p.Arg1093Leu)
n.3942G>T
n.3927G>T
n.4843G>T
1g.5863954C=CA1151209184NPHP4c.4076G= (p.Arg1359=)
n.3227G=
c.*2977G= (n.*2977G=)
n.2824G=
n.3808G=
c.*1887G= (n.*1887G=)
c.2537G= (p.Arg846=)
c.2540G= (p.Arg847=)
n.4891G=
c.4073G= (p.Arg1358=)
c.4034G= (p.Arg1345=)
c.3965G= (p.Arg1322=)
c.4022G= (p.Arg1341=)
c.4031G= (p.Arg1344=)
c.3548G= (p.Arg1183=)
c.3278G= (p.Arg1093=)
n.3942G=
n.3927G=
n.4843G=
1g.5863954C>GCA338048993NPHP4c.4076G>C (p.Arg1359Pro)
n.3227G>C
c.*2977G>C (n.*2977G>C)
n.2824G>C
n.3808G>C
c.*1887G>C (n.*1887G>C)
c.2537G>C (p.Arg846Pro)
c.2540G>C (p.Arg847Pro)
n.4891G>C
c.4073G>C (p.Arg1358Pro)
c.4034G>C (p.Arg1345Pro)
c.3965G>C (p.Arg1322Pro)
c.4022G>C (p.Arg1341Pro)
c.4031G>C (p.Arg1344Pro)
c.3548G>C (p.Arg1183Pro)
c.3278G>C (p.Arg1093Pro)
n.3942G>C
n.3927G>C
n.4843G>C
1g.5863954C>TCA553363NPHP4c.4076G>A (p.Arg1359Gln)
n.3227G>A
c.*2977G>A (n.*2977G>A)
n.2824G>A
n.3808G>A
c.*1887G>A (n.*1887G>A)
c.2537G>A (p.Arg846Gln)
c.2540G>A (p.Arg847Gln)
n.4891G>A
c.4073G>A (p.Arg1358Gln)
c.4034G>A (p.Arg1345Gln)
c.3965G>A (p.Arg1322Gln)
c.4022G>A (p.Arg1341Gln)
c.4031G>A (p.Arg1344Gln)
c.3548G>A (p.Arg1183Gln)
c.3278G>A (p.Arg1093Gln)
n.3942G>A
n.3927G>A
n.4843G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5863955G>ACA235731NPHP4c.4075C>T (p.Arg1359Trp)
n.3226C>T
c.*2976C>T (n.*2976C>T)
n.2823C>T
n.3807C>T
c.*1886C>T (n.*1886C>T)
c.2536C>T (p.Arg846Trp)
c.2539C>T (p.Arg847Trp)
n.4890C>T
c.4072C>T (p.Arg1358Trp)
c.4033C>T (p.Arg1345Trp)
c.3964C>T (p.Arg1322Trp)
c.4021C>T (p.Arg1341Trp)
c.4030C>T (p.Arg1344Trp)
c.3547C>T (p.Arg1183Trp)
c.3277C>T (p.Arg1093Trp)
n.3941C>T
n.3926C>T
n.4842C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.5863955G>CCA338048999NPHP4c.4075C>G (p.Arg1359Gly)
n.3226C>G
c.*2976C>G (n.*2976C>G)
n.2823C>G
n.3807C>G
c.*1886C>G (n.*1886C>G)
c.2536C>G (p.Arg846Gly)
c.2539C>G (p.Arg847Gly)
n.4890C>G
c.4072C>G (p.Arg1358Gly)
c.4033C>G (p.Arg1345Gly)
c.3964C>G (p.Arg1322Gly)
c.4021C>G (p.Arg1341Gly)
c.4030C>G (p.Arg1344Gly)
c.3547C>G (p.Arg1183Gly)
c.3277C>G (p.Arg1093Gly)
n.3941C>G
n.3926C>G
n.4842C>G
1g.5863955G=CA1143645390NPHP4c.4075C= (p.Arg1359=)
n.3226C=
c.*2976C= (n.*2976C=)
n.2823C=
n.3807C=
c.*1886C= (n.*1886C=)
c.2536C= (p.Arg846=)
c.2539C= (p.Arg847=)
n.4890C=
c.4072C= (p.Arg1358=)
c.4033C= (p.Arg1345=)
c.3964C= (p.Arg1322=)
c.4021C= (p.Arg1341=)
c.4030C= (p.Arg1344=)
c.3547C= (p.Arg1183=)
c.3277C= (p.Arg1093=)
n.3941C=
n.3926C=
n.4842C=
1g.5863955G>TCA415787004NPHP4c.4075C>A (p.Arg1359=)
n.3226C>A
c.*2976C>A (n.*2976C>A)
n.2823C>A
n.3807C>A
c.*1886C>A (n.*1886C>A)
c.2536C>A (p.Arg846=)
c.2539C>A (p.Arg847=)
n.4890C>A
c.4072C>A (p.Arg1358=)
c.4033C>A (p.Arg1345=)
c.3964C>A (p.Arg1322=)
c.4021C>A (p.Arg1341=)
c.4030C>A (p.Arg1344=)
c.3547C>A (p.Arg1183=)
c.3277C>A (p.Arg1093=)
n.3941C>A
n.3926C>A
n.4842C>A
 dbSNP gnomAD v2 gnomAD v4
1g.5863956G>ACA415787005NPHP4c.4074C>T (p.Ser1358=)
n.3225C>T
c.*2975C>T (n.*2975C>T)
n.2822C>T
n.3806C>T
c.*1885C>T (n.*1885C>T)
c.2535C>T (p.Ser845=)
c.2538C>T (p.Ser846=)
n.4889C>T
c.4071C>T (p.Ser1357=)
c.4032C>T (p.Ser1344=)
c.3963C>T (p.Ser1321=)
c.4020C>T (p.Ser1340=)
c.4029C>T (p.Ser1343=)
c.3546C>T (p.Ser1182=)
c.3276C>T (p.Ser1092=)
n.3940C>T
n.3925C>T
n.4841C>T
1g.5863956G>CCA415787006NPHP4c.4074C>G (p.Ser1358=)
n.3225C>G
c.*2975C>G (n.*2975C>G)
n.2822C>G
n.3806C>G
c.*1885C>G (n.*1885C>G)
c.2535C>G (p.Ser845=)
c.2538C>G (p.Ser846=)
n.4889C>G
c.4071C>G (p.Ser1357=)
c.4032C>G (p.Ser1344=)
c.3963C>G (p.Ser1321=)
c.4020C>G (p.Ser1340=)
c.4029C>G (p.Ser1343=)
c.3546C>G (p.Ser1182=)
c.3276C>G (p.Ser1092=)
n.3940C>G
n.3925C>G
n.4841C>G
1g.5863956G>TCA415787007NPHP4c.4074C>A (p.Ser1358=)
n.3225C>A
c.*2975C>A (n.*2975C>A)
n.2822C>A
n.3806C>A
c.*1885C>A (n.*1885C>A)
c.2535C>A (p.Ser845=)
c.2538C>A (p.Ser846=)
n.4889C>A
c.4071C>A (p.Ser1357=)
c.4032C>A (p.Ser1344=)
c.3963C>A (p.Ser1321=)
c.4020C>A (p.Ser1340=)
c.4029C>A (p.Ser1343=)
c.3546C>A (p.Ser1182=)
c.3276C>A (p.Ser1092=)
n.3940C>A
n.3925C>A
n.4841C>A
1g.5863957G>ACA553364NPHP4c.4073C>T (p.Ser1358Phe)
n.3224C>T
c.*2974C>T (n.*2974C>T)
n.2821C>T
n.3805C>T
c.*1884C>T (n.*1884C>T)
c.2534C>T (p.Ser845Phe)
c.2537C>T (p.Ser846Phe)
n.4888C>T
c.4070C>T (p.Ser1357Phe)
c.4031C>T (p.Ser1344Phe)
c.3962C>T (p.Ser1321Phe)
c.4019C>T (p.Ser1340Phe)
c.4028C>T (p.Ser1343Phe)
c.3545C>T (p.Ser1182Phe)
c.3275C>T (p.Ser1092Phe)
n.3939C>T
n.3924C>T
n.4840C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5863957G>CCA338049001NPHP4c.4073C>G (p.Ser1358Cys)
n.3224C>G
c.*2974C>G (n.*2974C>G)
n.2821C>G
n.3805C>G
c.*1884C>G (n.*1884C>G)
c.2534C>G (p.Ser845Cys)
c.2537C>G (p.Ser846Cys)
n.4888C>G
c.4070C>G (p.Ser1357Cys)
c.4031C>G (p.Ser1344Cys)
c.3962C>G (p.Ser1321Cys)
c.4019C>G (p.Ser1340Cys)
c.4028C>G (p.Ser1343Cys)
c.3545C>G (p.Ser1182Cys)
c.3275C>G (p.Ser1092Cys)
n.3939C>G
n.3924C>G
n.4840C>G
1g.5863957G=CA1151209195NPHP4c.4073C= (p.Ser1358=)
n.3224C=
c.*2974C= (n.*2974C=)
n.2821C=
n.3805C=
c.*1884C= (n.*1884C=)
c.2534C= (p.Ser845=)
c.2537C= (p.Ser846=)
n.4888C=
c.4070C= (p.Ser1357=)
c.4031C= (p.Ser1344=)
c.3962C= (p.Ser1321=)
c.4019C= (p.Ser1340=)
c.4028C= (p.Ser1343=)
c.3545C= (p.Ser1182=)
c.3275C= (p.Ser1092=)
n.3939C=
n.3924C=
n.4840C=
1g.5863957G>TCA338049003NPHP4c.4073C>A (p.Ser1358Tyr)
n.3224C>A
c.*2974C>A (n.*2974C>A)
n.2821C>A
n.3805C>A
c.*1884C>A (n.*1884C>A)
c.2534C>A (p.Ser845Tyr)
c.2537C>A (p.Ser846Tyr)
n.4888C>A
c.4070C>A (p.Ser1357Tyr)
c.4031C>A (p.Ser1344Tyr)
c.3962C>A (p.Ser1321Tyr)
c.4019C>A (p.Ser1340Tyr)
c.4028C>A (p.Ser1343Tyr)
c.3545C>A (p.Ser1182Tyr)
c.3275C>A (p.Ser1092Tyr)
n.3939C>A
n.3924C>A
n.4840C>A
1g.5863958A>CCA338049009NPHP4c.4072T>G (p.Ser1358Ala)
n.3223T>G
c.*2973T>G (n.*2973T>G)
n.2820T>G
n.3804T>G
c.*1883T>G (n.*1883T>G)
c.2533T>G (p.Ser845Ala)
c.2536T>G (p.Ser846Ala)
n.4887T>G
c.4069T>G (p.Ser1357Ala)
c.4030T>G (p.Ser1344Ala)
c.3961T>G (p.Ser1321Ala)
c.4018T>G (p.Ser1340Ala)
c.4027T>G (p.Ser1343Ala)
c.3544T>G (p.Ser1182Ala)
c.3274T>G (p.Ser1092Ala)
n.3938T>G
n.3923T>G
n.4839T>G
1g.5863958A>GCA338049006NPHP4c.4072T>C (p.Ser1358Pro)
n.3223T>C
c.*2973T>C (n.*2973T>C)
n.2820T>C
n.3804T>C
c.*1883T>C (n.*1883T>C)
c.2533T>C (p.Ser845Pro)
c.2536T>C (p.Ser846Pro)
n.4887T>C
c.4069T>C (p.Ser1357Pro)
c.4030T>C (p.Ser1344Pro)
c.3961T>C (p.Ser1321Pro)
c.4018T>C (p.Ser1340Pro)
c.4027T>C (p.Ser1343Pro)
c.3544T>C (p.Ser1182Pro)
c.3274T>C (p.Ser1092Pro)
n.3938T>C
n.3923T>C
n.4839T>C
1g.5863958A>TCA338049005NPHP4c.4072T>A (p.Ser1358Thr)
n.3223T>A
c.*2973T>A (n.*2973T>A)
n.2820T>A
n.3804T>A
c.*1883T>A (n.*1883T>A)
c.2533T>A (p.Ser845Thr)
c.2536T>A (p.Ser846Thr)
n.4887T>A
c.4069T>A (p.Ser1357Thr)
c.4030T>A (p.Ser1344Thr)
c.3961T>A (p.Ser1321Thr)
c.4018T>A (p.Ser1340Thr)
c.4027T>A (p.Ser1343Thr)
c.3544T>A (p.Ser1182Thr)
c.3274T>A (p.Ser1092Thr)
n.3938T>A
n.3923T>A
n.4839T>A
1g.5863959G>ACA415787008NPHP4c.4071C>T (p.Pro1357=)
n.3222C>T
c.*2972C>T (n.*2972C>T)
n.2819C>T
n.3803C>T
c.*1882C>T (n.*1882C>T)
c.2532C>T (p.Pro844=)
c.2535C>T (p.Pro845=)
n.4886C>T
c.4068C>T (p.Pro1356=)
c.4029C>T (p.Pro1343=)
c.3960C>T (p.Pro1320=)
c.4017C>T (p.Pro1339=)
c.4026C>T (p.Pro1342=)
c.3543C>T (p.Pro1181=)
c.3273C>T (p.Pro1091=)
n.3937C>T
n.3922C>T
n.4838C>T
1g.5863959G>CCA415787009NPHP4c.4071C>G (p.Pro1357=)
n.3222C>G
c.*2972C>G (n.*2972C>G)
n.2819C>G
n.3803C>G
c.*1882C>G (n.*1882C>G)
c.2532C>G (p.Pro844=)
c.2535C>G (p.Pro845=)
n.4886C>G
c.4068C>G (p.Pro1356=)
c.4029C>G (p.Pro1343=)
c.3960C>G (p.Pro1320=)
c.4017C>G (p.Pro1339=)
c.4026C>G (p.Pro1342=)
c.3543C>G (p.Pro1181=)
c.3273C>G (p.Pro1091=)
n.3937C>G
n.3922C>G
n.4838C>G
 gnomAD v4
1g.5863959G>TCA415787010NPHP4c.4071C>A (p.Pro1357=)
n.3222C>A
c.*2972C>A (n.*2972C>A)
n.2819C>A
n.3803C>A
c.*1882C>A (n.*1882C>A)
c.2532C>A (p.Pro844=)
c.2535C>A (p.Pro845=)
n.4886C>A
c.4068C>A (p.Pro1356=)
c.4029C>A (p.Pro1343=)
c.3960C>A (p.Pro1320=)
c.4017C>A (p.Pro1339=)
c.4026C>A (p.Pro1342=)
c.3543C>A (p.Pro1181=)
c.3273C>A (p.Pro1091=)
n.3937C>A
n.3922C>A
n.4838C>A
 gnomAD v4
1g.5863960G>ACA553365NPHP4c.4070C>T (p.Pro1357Leu)
n.3221C>T
c.*2971C>T (n.*2971C>T)
n.2818C>T
n.3802C>T
c.*1881C>T (n.*1881C>T)
c.2531C>T (p.Pro844Leu)
c.2534C>T (p.Pro845Leu)
n.4885C>T
c.4067C>T (p.Pro1356Leu)
c.4028C>T (p.Pro1343Leu)
c.3959C>T (p.Pro1320Leu)
c.4016C>T (p.Pro1339Leu)
c.4025C>T (p.Pro1342Leu)
c.3542C>T (p.Pro1181Leu)
c.3272C>T (p.Pro1091Leu)
n.3936C>T
n.3921C>T
n.4837C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.5863960G>CCA338049014NPHP4c.4070C>G (p.Pro1357Arg)
n.3221C>G
c.*2971C>G (n.*2971C>G)
n.2818C>G
n.3802C>G
c.*1881C>G (n.*1881C>G)
c.2531C>G (p.Pro844Arg)
c.2534C>G (p.Pro845Arg)
n.4885C>G
c.4067C>G (p.Pro1356Arg)
c.4028C>G (p.Pro1343Arg)
c.3959C>G (p.Pro1320Arg)
c.4016C>G (p.Pro1339Arg)
c.4025C>G (p.Pro1342Arg)
c.3542C>G (p.Pro1181Arg)
c.3272C>G (p.Pro1091Arg)
n.3936C>G
n.3921C>G
n.4837C>G
1g.5863960G=CA1151209198NPHP4c.4070C= (p.Pro1357=)
n.3221C=
c.*2971C= (n.*2971C=)
n.2818C=
n.3802C=
c.*1881C= (n.*1881C=)
c.2531C= (p.Pro844=)
c.2534C= (p.Pro845=)
n.4885C=
c.4067C= (p.Pro1356=)
c.4028C= (p.Pro1343=)
c.3959C= (p.Pro1320=)
c.4016C= (p.Pro1339=)
c.4025C= (p.Pro1342=)
c.3542C= (p.Pro1181=)
c.3272C= (p.Pro1091=)
n.3936C=
n.3921C=
n.4837C=
1g.5863960G>TCA338049012NPHP4c.4070C>A (p.Pro1357His)
n.3221C>A
c.*2971C>A (n.*2971C>A)
n.2818C>A
n.3802C>A
c.*1881C>A (n.*1881C>A)
c.2531C>A (p.Pro844His)
c.2534C>A (p.Pro845His)
n.4885C>A
c.4067C>A (p.Pro1356His)
c.4028C>A (p.Pro1343His)
c.3959C>A (p.Pro1320His)
c.4016C>A (p.Pro1339His)
c.4025C>A (p.Pro1342His)
c.3542C>A (p.Pro1181His)
c.3272C>A (p.Pro1091His)
n.3936C>A
n.3921C>A
n.4837C>A
1g.5863961G>ACA338049015NPHP4c.4069C>T (p.Pro1357Ser)
n.3220C>T
c.*2970C>T (n.*2970C>T)
n.2817C>T
n.3801C>T
c.*1880C>T (n.*1880C>T)
c.2530C>T (p.Pro844Ser)
c.2533C>T (p.Pro845Ser)
n.4884C>T
c.4066C>T (p.Pro1356Ser)
c.4027C>T (p.Pro1343Ser)
c.3958C>T (p.Pro1320Ser)
c.4015C>T (p.Pro1339Ser)
c.4024C>T (p.Pro1342Ser)
c.3541C>T (p.Pro1181Ser)
c.3271C>T (p.Pro1091Ser)
n.3935C>T
n.3920C>T
n.4836C>T
1g.5863961G>CCA338049019NPHP4c.4069C>G (p.Pro1357Ala)
n.3220C>G
c.*2970C>G (n.*2970C>G)
n.2817C>G
n.3801C>G
c.*1880C>G (n.*1880C>G)
c.2530C>G (p.Pro844Ala)
c.2533C>G (p.Pro845Ala)
n.4884C>G
c.4066C>G (p.Pro1356Ala)
c.4027C>G (p.Pro1343Ala)
c.3958C>G (p.Pro1320Ala)
c.4015C>G (p.Pro1339Ala)
c.4024C>G (p.Pro1342Ala)
c.3541C>G (p.Pro1181Ala)
c.3271C>G (p.Pro1091Ala)
n.3935C>G
n.3920C>G
n.4836C>G
 gnomAD v4
1g.5863961G=CA1151209200NPHP4c.4069C= (p.Pro1357=)
n.3220C=
c.*2970C= (n.*2970C=)
n.2817C=
n.3801C=
c.*1880C= (n.*1880C=)
c.2530C= (p.Pro844=)
c.2533C= (p.Pro845=)
n.4884C=
c.4066C= (p.Pro1356=)
c.4027C= (p.Pro1343=)
c.3958C= (p.Pro1320=)
c.4015C= (p.Pro1339=)
c.4024C= (p.Pro1342=)
c.3541C= (p.Pro1181=)
c.3271C= (p.Pro1091=)
n.3935C=
n.3920C=
n.4836C=
1g.5863961G>TCA338049017NPHP4c.4069C>A (p.Pro1357Thr)
n.3220C>A
c.*2970C>A (n.*2970C>A)
n.2817C>A
n.3801C>A
c.*1880C>A (n.*1880C>A)
c.2530C>A (p.Pro844Thr)
c.2533C>A (p.Pro845Thr)
n.4884C>A
c.4066C>A (p.Pro1356Thr)
c.4027C>A (p.Pro1343Thr)
c.3958C>A (p.Pro1320Thr)
c.4015C>A (p.Pro1339Thr)
c.4024C>A (p.Pro1342Thr)
c.3541C>A (p.Pro1181Thr)
c.3271C>A (p.Pro1091Thr)
n.3935C>A
n.3920C>A
n.4836C>A
 dbSNP gnomAD v2 gnomAD v4
1g.5863962G>ACA415787011NPHP4c.4068C>T (p.Tyr1356=)
n.3219C>T
c.*2969C>T (n.*2969C>T)
n.2816C>T
n.3800C>T
c.*1879C>T (n.*1879C>T)
c.2529C>T (p.Tyr843=)
c.2532C>T (p.Tyr844=)
n.4883C>T
c.4065C>T (p.Tyr1355=)
c.4026C>T (p.Tyr1342=)
c.3957C>T (p.Tyr1319=)
c.4014C>T (p.Tyr1338=)
c.4023C>T (p.Tyr1341=)
c.3540C>T (p.Tyr1180=)
c.3270C>T (p.Tyr1090=)
n.3934C>T
n.3919C>T
n.4835C>T
1g.5863962G>CCA338049021NPHP4c.4068C>G (p.Tyr1356Ter)
n.3219C>G
c.*2969C>G (n.*2969C>G)
n.2816C>G
n.3800C>G
c.*1879C>G (n.*1879C>G)
c.2529C>G (p.Tyr843Ter)
c.2532C>G (p.Tyr844Ter)
n.4883C>G
c.4065C>G (p.Tyr1355Ter)
c.4026C>G (p.Tyr1342Ter)
c.3957C>G (p.Tyr1319Ter)
c.4014C>G (p.Tyr1338Ter)
c.4023C>G (p.Tyr1341Ter)
c.3540C>G (p.Tyr1180Ter)
c.3270C>G (p.Tyr1090Ter)
n.3934C>G
n.3919C>G
n.4835C>G
1g.5863962G>TCA338049023NPHP4c.4068C>A (p.Tyr1356Ter)
n.3219C>A
c.*2969C>A (n.*2969C>A)
n.2816C>A
n.3800C>A
c.*1879C>A (n.*1879C>A)
c.2529C>A (p.Tyr843Ter)
c.2532C>A (p.Tyr844Ter)
n.4883C>A
c.4065C>A (p.Tyr1355Ter)
c.4026C>A (p.Tyr1342Ter)
c.3957C>A (p.Tyr1319Ter)
c.4014C>A (p.Tyr1338Ter)
c.4023C>A (p.Tyr1341Ter)
c.3540C>A (p.Tyr1180Ter)
c.3270C>A (p.Tyr1090Ter)
n.3934C>A
n.3919C>A
n.4835C>A
1g.5863963T>ACA338049026NPHP4c.4067A>T (p.Tyr1356Phe)
n.3218A>T
c.*2968A>T (n.*2968A>T)
n.2815A>T
n.3799A>T
c.*1878A>T (n.*1878A>T)
c.2528A>T (p.Tyr843Phe)
c.2531A>T (p.Tyr844Phe)
n.4882A>T
c.4064A>T (p.Tyr1355Phe)
c.4025A>T (p.Tyr1342Phe)
c.3956A>T (p.Tyr1319Phe)
c.4013A>T (p.Tyr1338Phe)
c.4022A>T (p.Tyr1341Phe)
c.3539A>T (p.Tyr1180Phe)
c.3269A>T (p.Tyr1090Phe)
n.3933A>T
n.3918A>T
n.4834A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.5863963T>CCA553367NPHP4c.4067A>G (p.Tyr1356Cys)
n.3218A>G
c.*2968A>G (n.*2968A>G)
n.2815A>G
n.3799A>G
c.*1878A>G (n.*1878A>G)
c.2528A>G (p.Tyr843Cys)
c.2531A>G (p.Tyr844Cys)
n.4882A>G
c.4064A>G (p.Tyr1355Cys)
c.4025A>G (p.Tyr1342Cys)
c.3956A>G (p.Tyr1319Cys)
c.4013A>G (p.Tyr1338Cys)
c.4022A>G (p.Tyr1341Cys)
c.3539A>G (p.Tyr1180Cys)
c.3269A>G (p.Tyr1090Cys)
n.3933A>G
n.3918A>G
n.4834A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5863963T>GCA553366NPHP4c.4067A>C (p.Tyr1356Ser)
n.3218A>C
c.*2968A>C (n.*2968A>C)
n.2815A>C
n.3799A>C
c.*1878A>C (n.*1878A>C)
c.2528A>C (p.Tyr843Ser)
c.2531A>C (p.Tyr844Ser)
n.4882A>C
c.4064A>C (p.Tyr1355Ser)
c.4025A>C (p.Tyr1342Ser)
c.3956A>C (p.Tyr1319Ser)
c.4013A>C (p.Tyr1338Ser)
c.4022A>C (p.Tyr1341Ser)
c.3539A>C (p.Tyr1180Ser)
c.3269A>C (p.Tyr1090Ser)
n.3933A>C
n.3918A>C
n.4834A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5863963T=CA1148433686NPHP4c.4067A= (p.Tyr1356=)
n.3218A=
c.*2968A= (n.*2968A=)
n.2815A=
n.3799A=
c.*1878A= (n.*1878A=)
c.2528A= (p.Tyr843=)
c.2531A= (p.Tyr844=)
n.4882A=
c.4064A= (p.Tyr1355=)
c.4025A= (p.Tyr1342=)
c.3956A= (p.Tyr1319=)
c.4013A= (p.Tyr1338=)
c.4022A= (p.Tyr1341=)
c.3539A= (p.Tyr1180=)
c.3269A= (p.Tyr1090=)
n.3933A=
n.3918A=
n.4834A=
1g.5863964A>CCA338049029NPHP4c.4066T>G (p.Tyr1356Asp)
n.3217T>G
c.*2967T>G (n.*2967T>G)
n.2814T>G
n.3798T>G
c.*1877T>G (n.*1877T>G)
c.2527T>G (p.Tyr843Asp)
c.2530T>G (p.Tyr844Asp)
n.4881T>G
c.4063T>G (p.Tyr1355Asp)
c.4024T>G (p.Tyr1342Asp)
c.3955T>G (p.Tyr1319Asp)
c.4012T>G (p.Tyr1338Asp)
c.4021T>G (p.Tyr1341Asp)
c.3538T>G (p.Tyr1180Asp)
c.3268T>G (p.Tyr1090Asp)
n.3932T>G
n.3917T>G
n.4833T>G
1g.5863964A>GCA338049031NPHP4c.4066T>C (p.Tyr1356His)
n.3217T>C
c.*2967T>C (n.*2967T>C)
n.2814T>C
n.3798T>C
c.*1877T>C (n.*1877T>C)
c.2527T>C (p.Tyr843His)
c.2530T>C (p.Tyr844His)
n.4881T>C
c.4063T>C (p.Tyr1355His)
c.4024T>C (p.Tyr1342His)
c.3955T>C (p.Tyr1319His)
c.4012T>C (p.Tyr1338His)
c.4021T>C (p.Tyr1341His)
c.3538T>C (p.Tyr1180His)
c.3268T>C (p.Tyr1090His)
n.3932T>C
n.3917T>C
n.4833T>C
1g.5863964A>TCA338049032NPHP4c.4066T>A (p.Tyr1356Asn)
n.3217T>A
c.*2967T>A (n.*2967T>A)
n.2814T>A
n.3798T>A
c.*1877T>A (n.*1877T>A)
c.2527T>A (p.Tyr843Asn)
c.2530T>A (p.Tyr844Asn)
n.4881T>A
c.4063T>A (p.Tyr1355Asn)
c.4024T>A (p.Tyr1342Asn)
c.3955T>A (p.Tyr1319Asn)
c.4012T>A (p.Tyr1338Asn)
c.4021T>A (p.Tyr1341Asn)
c.3538T>A (p.Tyr1180Asn)
c.3268T>A (p.Tyr1090Asn)
n.3932T>A
n.3917T>A
n.4833T>A
1g.5863965G>ACA415787013NPHP4c.4065C>T (p.Pro1355=)
n.3216C>T
c.*2966C>T (n.*2966C>T)
n.2813C>T
n.3797C>T
c.*1876C>T (n.*1876C>T)
c.2526C>T (p.Pro842=)
c.2529C>T (p.Pro843=)
n.4880C>T
c.4062C>T (p.Pro1354=)
c.4023C>T (p.Pro1341=)
c.3954C>T (p.Pro1318=)
c.4011C>T (p.Pro1337=)
c.4020C>T (p.Pro1340=)
c.3537C>T (p.Pro1179=)
c.3267C>T (p.Pro1089=)
n.3931C>T
n.3916C>T
n.4832C>T
 ClinVar dbSNP
1g.5863965G>CCA415787014NPHP4c.4065C>G (p.Pro1355=)
n.3216C>G
c.*2966C>G (n.*2966C>G)
n.2813C>G
n.3797C>G
c.*1876C>G (n.*1876C>G)
c.2526C>G (p.Pro842=)
c.2529C>G (p.Pro843=)
n.4880C>G
c.4062C>G (p.Pro1354=)
c.4023C>G (p.Pro1341=)
c.3954C>G (p.Pro1318=)
c.4011C>G (p.Pro1337=)
c.4020C>G (p.Pro1340=)
c.3537C>G (p.Pro1179=)
c.3267C>G (p.Pro1089=)
n.3931C>G
n.3916C>G
n.4832C>G
1g.5863965G>TCA415787015NPHP4c.4065C>A (p.Pro1355=)
n.3216C>A
c.*2966C>A (n.*2966C>A)
n.2813C>A
n.3797C>A
c.*1876C>A (n.*1876C>A)
c.2526C>A (p.Pro842=)
c.2529C>A (p.Pro843=)
n.4880C>A
c.4062C>A (p.Pro1354=)
c.4023C>A (p.Pro1341=)
c.3954C>A (p.Pro1318=)
c.4011C>A (p.Pro1337=)
c.4020C>A (p.Pro1340=)
c.3537C>A (p.Pro1179=)
c.3267C>A (p.Pro1089=)
n.3931C>A
n.3916C>A
n.4832C>A
1g.5863968delCA2580062649NPHP4c.4065del (p.Tyr1356ThrfsTer?)
n.3216del
c.*2966del (n.*2966del)
n.2813del
n.3797del
c.*1876del (n.*1876del)
c.2526del (p.Tyr843ThrfsTer?)
c.2529del (p.Tyr844ThrfsTer?)
n.4880del
c.4062del (p.Tyr1355ThrfsTer?)
c.4023del (p.Tyr1342ThrfsTer?)
c.3954del (p.Tyr1319ThrfsTer?)
c.4011del (p.Tyr1338ThrfsTer?)
c.4020del (p.Tyr1341ThrfsTer?)
c.3537del (p.Tyr1180ThrfsTer?)
c.3267del (p.Tyr1090ThrfsTer?)
n.3931del
n.3916del
n.4832del
 ClinVar
1g.5863966G>ACA338049033NPHP4c.4064C>T (p.Pro1355Leu)
n.3215C>T
c.*2965C>T (n.*2965C>T)
n.2812C>T
n.3796C>T
c.*1875C>T (n.*1875C>T)
c.2525C>T (p.Pro842Leu)
c.2528C>T (p.Pro843Leu)
n.4879C>T
c.4061C>T (p.Pro1354Leu)
c.4022C>T (p.Pro1341Leu)
c.3953C>T (p.Pro1318Leu)
c.4010C>T (p.Pro1337Leu)
c.4019C>T (p.Pro1340Leu)
c.3536C>T (p.Pro1179Leu)
c.3266C>T (p.Pro1089Leu)
n.3930C>T
n.3915C>T
n.4831C>T
 dbSNP gnomAD v3 gnomAD v4
1g.5863966G>CCA338049034NPHP4c.4064C>G (p.Pro1355Arg)
n.3215C>G
c.*2965C>G (n.*2965C>G)
n.2812C>G
n.3796C>G
c.*1875C>G (n.*1875C>G)
c.2525C>G (p.Pro842Arg)
c.2528C>G (p.Pro843Arg)
n.4879C>G
c.4061C>G (p.Pro1354Arg)
c.4022C>G (p.Pro1341Arg)
c.3953C>G (p.Pro1318Arg)
c.4010C>G (p.Pro1337Arg)
c.4019C>G (p.Pro1340Arg)
c.3536C>G (p.Pro1179Arg)
c.3266C>G (p.Pro1089Arg)
n.3930C>G
n.3915C>G
n.4831C>G
1g.5863966G=CA1151209205NPHP4c.4064C= (p.Pro1355=)
n.3215C=
c.*2965C= (n.*2965C=)
n.2812C=
n.3796C=
c.*1875C= (n.*1875C=)
c.2525C= (p.Pro842=)
c.2528C= (p.Pro843=)
n.4879C=
c.4061C= (p.Pro1354=)
c.4022C= (p.Pro1341=)
c.3953C= (p.Pro1318=)
c.4010C= (p.Pro1337=)
c.4019C= (p.Pro1340=)
c.3536C= (p.Pro1179=)
c.3266C= (p.Pro1089=)
n.3930C=
n.3915C=
n.4831C=
1g.5863966G>TCA338049036NPHP4c.4064C>A (p.Pro1355His)
n.3215C>A
c.*2965C>A (n.*2965C>A)
n.2812C>A
n.3796C>A
c.*1875C>A (n.*1875C>A)
c.2525C>A (p.Pro842His)
c.2528C>A (p.Pro843His)
n.4879C>A
c.4061C>A (p.Pro1354His)
c.4022C>A (p.Pro1341His)
c.3953C>A (p.Pro1318His)
c.4010C>A (p.Pro1337His)
c.4019C>A (p.Pro1340His)
c.3536C>A (p.Pro1179His)
c.3266C>A (p.Pro1089His)
n.3930C>A
n.3915C>A
n.4831C>A
1g.5863967G>ACA338049038NPHP4c.4063C>T (p.Pro1355Ser)
n.3214C>T
c.*2964C>T (n.*2964C>T)
n.2811C>T
n.3795C>T
c.*1874C>T (n.*1874C>T)
c.2524C>T (p.Pro842Ser)
c.2527C>T (p.Pro843Ser)
n.4878C>T
c.4060C>T (p.Pro1354Ser)
c.4021C>T (p.Pro1341Ser)
c.3952C>T (p.Pro1318Ser)
c.4009C>T (p.Pro1337Ser)
c.4018C>T (p.Pro1340Ser)
c.3535C>T (p.Pro1179Ser)
c.3265C>T (p.Pro1089Ser)
n.3929C>T
n.3914C>T
n.4830C>T
 dbSNP gnomAD v4
1g.5863967G>CCA338049039NPHP4c.4063C>G (p.Pro1355Ala)
n.3214C>G
c.*2964C>G (n.*2964C>G)
n.2811C>G
n.3795C>G
c.*1874C>G (n.*1874C>G)
c.2524C>G (p.Pro842Ala)
c.2527C>G (p.Pro843Ala)
n.4878C>G
c.4060C>G (p.Pro1354Ala)
c.4021C>G (p.Pro1341Ala)
c.3952C>G (p.Pro1318Ala)
c.4009C>G (p.Pro1337Ala)
c.4018C>G (p.Pro1340Ala)
c.3535C>G (p.Pro1179Ala)
c.3265C>G (p.Pro1089Ala)
n.3929C>G
n.3914C>G
n.4830C>G
 gnomAD v4
1g.5863967G=CA1151209209NPHP4c.4063C= (p.Pro1355=)
n.3214C=
c.*2964C= (n.*2964C=)
n.2811C=
n.3795C=
c.*1874C= (n.*1874C=)
c.2524C= (p.Pro842=)
c.2527C= (p.Pro843=)
n.4878C=
c.4060C= (p.Pro1354=)
c.4021C= (p.Pro1341=)
c.3952C= (p.Pro1318=)
c.4009C= (p.Pro1337=)
c.4018C= (p.Pro1340=)
c.3535C= (p.Pro1179=)
c.3265C= (p.Pro1089=)
n.3929C=
n.3914C=
n.4830C=
1g.5863967G>TCA338049041NPHP4c.4063C>A (p.Pro1355Thr)
n.3214C>A
c.*2964C>A (n.*2964C>A)
n.2811C>A
n.3795C>A
c.*1874C>A (n.*1874C>A)
c.2524C>A (p.Pro842Thr)
c.2527C>A (p.Pro843Thr)
n.4878C>A
c.4060C>A (p.Pro1354Thr)
c.4021C>A (p.Pro1341Thr)
c.3952C>A (p.Pro1318Thr)
c.4009C>A (p.Pro1337Thr)
c.4018C>A (p.Pro1340Thr)
c.3535C>A (p.Pro1179Thr)
c.3265C>A (p.Pro1089Thr)
n.3929C>A
n.3914C>A
n.4830C>A
1g.5863968G>ACA415787017NPHP4c.4062C>T (p.Asn1354=)
n.3213C>T
c.*2963C>T (n.*2963C>T)
n.2810C>T
n.3794C>T
c.*1873C>T (n.*1873C>T)
c.2523C>T (p.Asn841=)
c.2526C>T (p.Asn842=)
n.4877C>T
c.4059C>T (p.Asn1353=)
c.4020C>T (p.Asn1340=)
c.3951C>T (p.Asn1317=)
c.4008C>T (p.Asn1336=)
c.4017C>T (p.Asn1339=)
c.3534C>T (p.Asn1178=)
c.3264C>T (p.Asn1088=)
n.3928C>T
n.3913C>T
n.4829C>T
 ClinVar gnomAD v4
1g.5863968G>CCA338049045NPHP4c.4062C>G (p.Asn1354Lys)
n.3213C>G
c.*2963C>G (n.*2963C>G)
n.2810C>G
n.3794C>G
c.*1873C>G (n.*1873C>G)
c.2523C>G (p.Asn841Lys)
c.2526C>G (p.Asn842Lys)
n.4877C>G
c.4059C>G (p.Asn1353Lys)
c.4020C>G (p.Asn1340Lys)
c.3951C>G (p.Asn1317Lys)
c.4008C>G (p.Asn1336Lys)
c.4017C>G (p.Asn1339Lys)
c.3534C>G (p.Asn1178Lys)
c.3264C>G (p.Asn1088Lys)
n.3928C>G
n.3913C>G
n.4829C>G
1g.5863968G>TCA338049043NPHP4c.4062C>A (p.Asn1354Lys)
n.3213C>A
c.*2963C>A (n.*2963C>A)
n.2810C>A
n.3794C>A
c.*1873C>A (n.*1873C>A)
c.2523C>A (p.Asn841Lys)
c.2526C>A (p.Asn842Lys)
n.4877C>A
c.4059C>A (p.Asn1353Lys)
c.4020C>A (p.Asn1340Lys)
c.3951C>A (p.Asn1317Lys)
c.4008C>A (p.Asn1336Lys)
c.4017C>A (p.Asn1339Lys)
c.3534C>A (p.Asn1178Lys)
c.3264C>A (p.Asn1088Lys)
n.3928C>A
n.3913C>A
n.4829C>A
1g.5863969T>ACA338049047NPHP4c.4061A>T (p.Asn1354Ile)
n.3212A>T
c.*2962A>T (n.*2962A>T)
n.2809A>T
n.3793A>T
c.*1872A>T (n.*1872A>T)
c.2522A>T (p.Asn841Ile)
c.2525A>T (p.Asn842Ile)
n.4876A>T
c.4058A>T (p.Asn1353Ile)
c.4019A>T (p.Asn1340Ile)
c.3950A>T (p.Asn1317Ile)
c.4007A>T (p.Asn1336Ile)
c.4016A>T (p.Asn1339Ile)
c.3533A>T (p.Asn1178Ile)
c.3263A>T (p.Asn1088Ile)
n.3927A>T
n.3912A>T
n.4828A>T
1g.5863969T>CCA338049048NPHP4c.4061A>G (p.Asn1354Ser)
n.3212A>G
c.*2962A>G (n.*2962A>G)
n.2809A>G
n.3793A>G
c.*1872A>G (n.*1872A>G)
c.2522A>G (p.Asn841Ser)
c.2525A>G (p.Asn842Ser)
n.4876A>G
c.4058A>G (p.Asn1353Ser)
c.4019A>G (p.Asn1340Ser)
c.3950A>G (p.Asn1317Ser)
c.4007A>G (p.Asn1336Ser)
c.4016A>G (p.Asn1339Ser)
c.3533A>G (p.Asn1178Ser)
c.3263A>G (p.Asn1088Ser)
n.3927A>G
n.3912A>G
n.4828A>G
1g.5863969T>GCA338049050NPHP4c.4061A>C (p.Asn1354Thr)
n.3212A>C
c.*2962A>C (n.*2962A>C)
n.2809A>C
n.3793A>C
c.*1872A>C (n.*1872A>C)
c.2522A>C (p.Asn841Thr)
c.2525A>C (p.Asn842Thr)
n.4876A>C
c.4058A>C (p.Asn1353Thr)
c.4019A>C (p.Asn1340Thr)
c.3950A>C (p.Asn1317Thr)
c.4007A>C (p.Asn1336Thr)
c.4016A>C (p.Asn1339Thr)
c.3533A>C (p.Asn1178Thr)
c.3263A>C (p.Asn1088Thr)
n.3927A>C
n.3912A>C
n.4828A>C
 gnomAD v4
1g.5863970T>ACA338049052NPHP4c.4060A>T (p.Asn1354Tyr)
n.3211A>T
c.*2961A>T (n.*2961A>T)
n.2808A>T
n.3792A>T
c.*1871A>T (n.*1871A>T)
c.2521A>T (p.Asn841Tyr)
c.2524A>T (p.Asn842Tyr)
n.4875A>T
c.4057A>T (p.Asn1353Tyr)
c.4018A>T (p.Asn1340Tyr)
c.3949A>T (p.Asn1317Tyr)
c.4006A>T (p.Asn1336Tyr)
c.4015A>T (p.Asn1339Tyr)
c.3532A>T (p.Asn1178Tyr)
c.3262A>T (p.Asn1088Tyr)
n.3926A>T
n.3911A>T
n.4827A>T
1g.5863970T>CCA338049054NPHP4c.4060A>G (p.Asn1354Asp)
n.3211A>G
c.*2961A>G (n.*2961A>G)
n.2808A>G
n.3792A>G
c.*1871A>G (n.*1871A>G)
c.2521A>G (p.Asn841Asp)
c.2524A>G (p.Asn842Asp)
n.4875A>G
c.4057A>G (p.Asn1353Asp)
c.4018A>G (p.Asn1340Asp)
c.3949A>G (p.Asn1317Asp)
c.4006A>G (p.Asn1336Asp)
c.4015A>G (p.Asn1339Asp)
c.3532A>G (p.Asn1178Asp)
c.3262A>G (p.Asn1088Asp)
n.3926A>G
n.3911A>G
n.4827A>G
1g.5863970T>GCA338049055NPHP4c.4060A>C (p.Asn1354His)
n.3211A>C
c.*2961A>C (n.*2961A>C)
n.2808A>C
n.3792A>C
c.*1871A>C (n.*1871A>C)
c.2521A>C (p.Asn841His)
c.2524A>C (p.Asn842His)
n.4875A>C
c.4057A>C (p.Asn1353His)
c.4018A>C (p.Asn1340His)
c.3949A>C (p.Asn1317His)
c.4006A>C (p.Asn1336His)
c.4015A>C (p.Asn1339His)
c.3532A>C (p.Asn1178His)
c.3262A>C (p.Asn1088His)
n.3926A>C
n.3911A>C
n.4827A>C
1g.5863971G>ACA415787018NPHP4c.4059C>T (p.Thr1353=)
n.3210C>T
c.*2960C>T (n.*2960C>T)
n.2807C>T
n.3791C>T
c.*1870C>T (n.*1870C>T)
c.2520C>T (p.Thr840=)
c.2523C>T (p.Thr841=)
n.4874C>T
c.4056C>T (p.Thr1352=)
c.4017C>T (p.Thr1339=)
c.3948C>T (p.Thr1316=)
c.4005C>T (p.Thr1335=)
c.4014C>T (p.Thr1338=)
c.3531C>T (p.Thr1177=)
c.3261C>T (p.Thr1087=)
n.3925C>T
n.3910C>T
n.4826C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.5863971G>CCA415787019NPHP4c.4059C>G (p.Thr1353=)
n.3210C>G
c.*2960C>G (n.*2960C>G)
n.2807C>G
n.3791C>G
c.*1870C>G (n.*1870C>G)
c.2520C>G (p.Thr840=)
c.2523C>G (p.Thr841=)
n.4874C>G
c.4056C>G (p.Thr1352=)
c.4017C>G (p.Thr1339=)
c.3948C>G (p.Thr1316=)
c.4005C>G (p.Thr1335=)
c.4014C>G (p.Thr1338=)
c.3531C>G (p.Thr1177=)
c.3261C>G (p.Thr1087=)
n.3925C>G
n.3910C>G
n.4826C>G
1g.5863971G=CA1151209212NPHP4c.4059C= (p.Thr1353=)
n.3210C=
c.*2960C= (n.*2960C=)
n.2807C=
n.3791C=
c.*1870C= (n.*1870C=)
c.2520C= (p.Thr840=)
c.2523C= (p.Thr841=)
n.4874C=
c.4056C= (p.Thr1352=)
c.4017C= (p.Thr1339=)
c.3948C= (p.Thr1316=)
c.4005C= (p.Thr1335=)
c.4014C= (p.Thr1338=)
c.3531C= (p.Thr1177=)
c.3261C= (p.Thr1087=)
n.3925C=
n.3910C=
n.4826C=
1g.5863971G>TCA415787020NPHP4c.4059C>A (p.Thr1353=)
n.3210C>A
c.*2960C>A (n.*2960C>A)
n.2807C>A
n.3791C>A
c.*1870C>A (n.*1870C>A)
c.2520C>A (p.Thr840=)
c.2523C>A (p.Thr841=)
n.4874C>A
c.4056C>A (p.Thr1352=)
c.4017C>A (p.Thr1339=)
c.3948C>A (p.Thr1316=)
c.4005C>A (p.Thr1335=)
c.4014C>A (p.Thr1338=)
c.3531C>A (p.Thr1177=)
c.3261C>A (p.Thr1087=)
n.3925C>A
n.3910C>A
n.4826C>A
1g.5863972G>ACA338049057NPHP4c.4058C>T (p.Thr1353Ile)
n.3209C>T
c.*2959C>T (n.*2959C>T)
n.2806C>T
n.3790C>T
c.*1869C>T (n.*1869C>T)
c.2519C>T (p.Thr840Ile)
c.2522C>T (p.Thr841Ile)
n.4873C>T
c.4055C>T (p.Thr1352Ile)
c.4016C>T (p.Thr1339Ile)
c.3947C>T (p.Thr1316Ile)
c.4004C>T (p.Thr1335Ile)
c.4013C>T (p.Thr1338Ile)
c.3530C>T (p.Thr1177Ile)
c.3260C>T (p.Thr1087Ile)
n.3924C>T
n.3909C>T
n.4825C>T
1g.5863972G>CCA338049059NPHP4c.4058C>G (p.Thr1353Ser)
n.3209C>G
c.*2959C>G (n.*2959C>G)
n.2806C>G
n.3790C>G
c.*1869C>G (n.*1869C>G)
c.2519C>G (p.Thr840Ser)
c.2522C>G (p.Thr841Ser)
n.4873C>G
c.4055C>G (p.Thr1352Ser)
c.4016C>G (p.Thr1339Ser)
c.3947C>G (p.Thr1316Ser)
c.4004C>G (p.Thr1335Ser)
c.4013C>G (p.Thr1338Ser)
c.3530C>G (p.Thr1177Ser)
c.3260C>G (p.Thr1087Ser)
n.3924C>G
n.3909C>G
n.4825C>G
1g.5863972G>TCA338049063NPHP4c.4058C>A (p.Thr1353Asn)
n.3209C>A
c.*2959C>A (n.*2959C>A)
n.2806C>A
n.3790C>A
c.*1869C>A (n.*1869C>A)
c.2519C>A (p.Thr840Asn)
c.2522C>A (p.Thr841Asn)
n.4873C>A
c.4055C>A (p.Thr1352Asn)
c.4016C>A (p.Thr1339Asn)
c.3947C>A (p.Thr1316Asn)
c.4004C>A (p.Thr1335Asn)
c.4013C>A (p.Thr1338Asn)
c.3530C>A (p.Thr1177Asn)
c.3260C>A (p.Thr1087Asn)
n.3924C>A
n.3909C>A
n.4825C>A
1g.5863973T>ACA338049066NPHP4c.4057A>T (p.Thr1353Ser)
n.3208A>T
c.*2958A>T (n.*2958A>T)
n.2805A>T
n.3789A>T
c.*1868A>T (n.*1868A>T)
c.2518A>T (p.Thr840Ser)
c.2521A>T (p.Thr841Ser)
n.4872A>T
c.4054A>T (p.Thr1352Ser)
c.4015A>T (p.Thr1339Ser)
c.3946A>T (p.Thr1316Ser)
c.4003A>T (p.Thr1335Ser)
c.4012A>T (p.Thr1338Ser)
c.3529A>T (p.Thr1177Ser)
c.3259A>T (p.Thr1087Ser)
n.3923A>T
n.3908A>T
n.4824A>T
1g.5863973T>CCA17124862NPHP4c.4057A>G (p.Thr1353Ala)
n.3208A>G
c.*2958A>G (n.*2958A>G)
n.2805A>G
n.3789A>G
c.*1868A>G (n.*1868A>G)
c.2518A>G (p.Thr840Ala)
c.2521A>G (p.Thr841Ala)
n.4872A>G
c.4054A>G (p.Thr1352Ala)
c.4015A>G (p.Thr1339Ala)
c.3946A>G (p.Thr1316Ala)
c.4003A>G (p.Thr1335Ala)
c.4012A>G (p.Thr1338Ala)
c.3529A>G (p.Thr1177Ala)
c.3259A>G (p.Thr1087Ala)
n.3923A>G
n.3908A>G
n.4824A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.5863973T>GCA338049069NPHP4c.4057A>C (p.Thr1353Pro)
n.3208A>C
c.*2958A>C (n.*2958A>C)
n.2805A>C
n.3789A>C
c.*1868A>C (n.*1868A>C)
c.2518A>C (p.Thr840Pro)
c.2521A>C (p.Thr841Pro)
n.4872A>C
c.4054A>C (p.Thr1352Pro)
c.4015A>C (p.Thr1339Pro)
c.3946A>C (p.Thr1316Pro)
c.4003A>C (p.Thr1335Pro)
c.4012A>C (p.Thr1338Pro)
c.3529A>C (p.Thr1177Pro)
c.3259A>C (p.Thr1087Pro)
n.3923A>C
n.3908A>C
n.4824A>C
1g.5863973T=CA1151209214NPHP4c.4057A= (p.Thr1353=)
n.3208A=
c.*2958A= (n.*2958A=)
n.2805A=
n.3789A=
c.*1868A= (n.*1868A=)
c.2518A= (p.Thr840=)
c.2521A= (p.Thr841=)
n.4872A=
c.4054A= (p.Thr1352=)
c.4015A= (p.Thr1339=)
c.3946A= (p.Thr1316=)
c.4003A= (p.Thr1335=)
c.4012A= (p.Thr1338=)
c.3529A= (p.Thr1177=)
c.3259A= (p.Thr1087=)
n.3923A=
n.3908A=
n.4824A=
1g.5863974G>ACA415787021NPHP4c.4056C>T (p.Tyr1352=)
n.3207C>T
c.*2957C>T (n.*2957C>T)
n.2804C>T
n.3788C>T
c.*1867C>T (n.*1867C>T)
c.2517C>T (p.Tyr839=)
c.2520C>T (p.Tyr840=)
n.4871C>T
c.4053C>T (p.Tyr1351=)
c.4014C>T (p.Tyr1338=)
c.3945C>T (p.Tyr1315=)
c.4002C>T (p.Tyr1334=)
c.4011C>T (p.Tyr1337=)
c.3528C>T (p.Tyr1176=)
c.3258C>T (p.Tyr1086=)
n.3922C>T
n.3907C>T
n.4823C>T
1g.5863974G>CCA338049071NPHP4c.4056C>G (p.Tyr1352Ter)
n.3207C>G
c.*2957C>G (n.*2957C>G)
n.2804C>G
n.3788C>G
c.*1867C>G (n.*1867C>G)
c.2517C>G (p.Tyr839Ter)
c.2520C>G (p.Tyr840Ter)
n.4871C>G
c.4053C>G (p.Tyr1351Ter)
c.4014C>G (p.Tyr1338Ter)
c.3945C>G (p.Tyr1315Ter)
c.4002C>G (p.Tyr1334Ter)
c.4011C>G (p.Tyr1337Ter)
c.3528C>G (p.Tyr1176Ter)
c.3258C>G (p.Tyr1086Ter)
n.3922C>G
n.3907C>G
n.4823C>G
1g.5863974G>TCA338049073NPHP4c.4056C>A (p.Tyr1352Ter)
n.3207C>A
c.*2957C>A (n.*2957C>A)
n.2804C>A
n.3788C>A
c.*1867C>A (n.*1867C>A)
c.2517C>A (p.Tyr839Ter)
c.2520C>A (p.Tyr840Ter)
n.4871C>A
c.4053C>A (p.Tyr1351Ter)
c.4014C>A (p.Tyr1338Ter)
c.3945C>A (p.Tyr1315Ter)
c.4002C>A (p.Tyr1334Ter)
c.4011C>A (p.Tyr1337Ter)
c.3528C>A (p.Tyr1176Ter)
c.3258C>A (p.Tyr1086Ter)
n.3922C>A
n.3907C>A
n.4823C>A
 gnomAD v4
1g.5863975T>ACA338049075NPHP4c.4055A>T (p.Tyr1352Phe)
n.3206A>T
c.*2956A>T (n.*2956A>T)
n.2803A>T
n.3787A>T
c.*1866A>T (n.*1866A>T)
c.2516A>T (p.Tyr839Phe)
c.2519A>T (p.Tyr840Phe)
n.4870A>T
c.4052A>T (p.Tyr1351Phe)
c.4013A>T (p.Tyr1338Phe)
c.3944A>T (p.Tyr1315Phe)
c.4001A>T (p.Tyr1334Phe)
c.4010A>T (p.Tyr1337Phe)
c.3527A>T (p.Tyr1176Phe)
c.3257A>T (p.Tyr1086Phe)
n.3921A>T
n.3906A>T
n.4822A>T
1g.5863975T>CCA553368NPHP4c.4055A>G (p.Tyr1352Cys)
n.3206A>G
c.*2956A>G (n.*2956A>G)
n.2803A>G
n.3787A>G
c.*1866A>G (n.*1866A>G)
c.2516A>G (p.Tyr839Cys)
c.2519A>G (p.Tyr840Cys)
n.4870A>G
c.4052A>G (p.Tyr1351Cys)
c.4013A>G (p.Tyr1338Cys)
c.3944A>G (p.Tyr1315Cys)
c.4001A>G (p.Tyr1334Cys)
c.4010A>G (p.Tyr1337Cys)
c.3527A>G (p.Tyr1176Cys)
c.3257A>G (p.Tyr1086Cys)
n.3921A>G
n.3906A>G
n.4822A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.5863975T>GCA338049077NPHP4c.4055A>C (p.Tyr1352Ser)
n.3206A>C
c.*2956A>C (n.*2956A>C)
n.2803A>C
n.3787A>C
c.*1866A>C (n.*1866A>C)
c.2516A>C (p.Tyr839Ser)
c.2519A>C (p.Tyr840Ser)
n.4870A>C
c.4052A>C (p.Tyr1351Ser)
c.4013A>C (p.Tyr1338Ser)
c.3944A>C (p.Tyr1315Ser)
c.4001A>C (p.Tyr1334Ser)
c.4010A>C (p.Tyr1337Ser)
c.3527A>C (p.Tyr1176Ser)
c.3257A>C (p.Tyr1086Ser)
n.3921A>C
n.3906A>C
n.4822A>C
1g.5863975T=CA1151209219NPHP4c.4055A= (p.Tyr1352=)
n.3206A=
c.*2956A= (n.*2956A=)
n.2803A=
n.3787A=
c.*1866A= (n.*1866A=)
c.2516A= (p.Tyr839=)
c.2519A= (p.Tyr840=)
n.4870A=
c.4052A= (p.Tyr1351=)
c.4013A= (p.Tyr1338=)
c.3944A= (p.Tyr1315=)
c.4001A= (p.Tyr1334=)
c.4010A= (p.Tyr1337=)
c.3527A= (p.Tyr1176=)
c.3257A= (p.Tyr1086=)
n.3921A=
n.3906A=
n.4822A=
1g.5863976A=CA1151209223NPHP4c.4054T= (p.Tyr1352=)
n.3205T=
c.*2955T= (n.*2955T=)
n.2802T=
n.3786T=
c.*1865T= (n.*1865T=)
c.2515T= (p.Tyr839=)
c.2518T= (p.Tyr840=)
n.4869T=
c.4051T= (p.Tyr1351=)
c.4012T= (p.Tyr1338=)
c.3943T= (p.Tyr1315=)
c.4000T= (p.Tyr1334=)
c.4009T= (p.Tyr1337=)
c.3526T= (p.Tyr1176=)
c.3256T= (p.Tyr1086=)
n.3920T=
n.3905T=
n.4821T=
1g.5863976A>CCA338049079NPHP4c.4054T>G (p.Tyr1352Asp)
n.3205T>G
c.*2955T>G (n.*2955T>G)
n.2802T>G
n.3786T>G
c.*1865T>G (n.*1865T>G)
c.2515T>G (p.Tyr839Asp)
c.2518T>G (p.Tyr840Asp)
n.4869T>G
c.4051T>G (p.Tyr1351Asp)
c.4012T>G (p.Tyr1338Asp)
c.3943T>G (p.Tyr1315Asp)
c.4000T>G (p.Tyr1334Asp)
c.4009T>G (p.Tyr1337Asp)
c.3526T>G (p.Tyr1176Asp)
c.3256T>G (p.Tyr1086Asp)
n.3920T>G
n.3905T>G
n.4821T>G
 dbSNP gnomAD v3 gnomAD v4
1g.5863976A>GCA338049081NPHP4c.4054T>C (p.Tyr1352His)
n.3205T>C
c.*2955T>C (n.*2955T>C)
n.2802T>C
n.3786T>C
c.*1865T>C (n.*1865T>C)
c.2515T>C (p.Tyr839His)
c.2518T>C (p.Tyr840His)
n.4869T>C
c.4051T>C (p.Tyr1351His)
c.4012T>C (p.Tyr1338His)
c.3943T>C (p.Tyr1315His)
c.4000T>C (p.Tyr1334His)
c.4009T>C (p.Tyr1337His)
c.3526T>C (p.Tyr1176His)
c.3256T>C (p.Tyr1086His)
n.3920T>C
n.3905T>C
n.4821T>C
1g.5863976A>TCA338049082NPHP4c.4054T>A (p.Tyr1352Asn)
n.3205T>A
c.*2955T>A (n.*2955T>A)
n.2802T>A
n.3786T>A
c.*1865T>A (n.*1865T>A)
c.2515T>A (p.Tyr839Asn)
c.2518T>A (p.Tyr840Asn)
n.4869T>A
c.4051T>A (p.Tyr1351Asn)
c.4012T>A (p.Tyr1338Asn)
c.3943T>A (p.Tyr1315Asn)
c.4000T>A (p.Tyr1334Asn)
c.4009T>A (p.Tyr1337Asn)
c.3526T>A (p.Tyr1176Asn)
c.3256T>A (p.Tyr1086Asn)
n.3920T>A
n.3905T>A
n.4821T>A
1g.5863977G>ACA415787022NPHP4c.4053C>T (p.Thr1351=)
n.3204C>T
c.*2954C>T (n.*2954C>T)
n.2801C>T
n.3785C>T
c.*1864C>T (n.*1864C>T)
c.2514C>T (p.Thr838=)
c.2517C>T (p.Thr839=)
n.4868C>T
c.4050C>T (p.Thr1350=)
c.4011C>T (p.Thr1337=)
c.3942C>T (p.Thr1314=)
c.3999C>T (p.Thr1333=)
c.4008C>T (p.Thr1336=)
c.3525C>T (p.Thr1175=)
c.3255C>T (p.Thr1085=)
n.3919C>T
n.3904C>T
n.4820C>T
1g.5863977G>CCA415787023NPHP4c.4053C>G (p.Thr1351=)
n.3204C>G
c.*2954C>G (n.*2954C>G)
n.2801C>G
n.3785C>G
c.*1864C>G (n.*1864C>G)
c.2514C>G (p.Thr838=)
c.2517C>G (p.Thr839=)
n.4868C>G
c.4050C>G (p.Thr1350=)
c.4011C>G (p.Thr1337=)
c.3942C>G (p.Thr1314=)
c.3999C>G (p.Thr1333=)
c.4008C>G (p.Thr1336=)
c.3525C>G (p.Thr1175=)
c.3255C>G (p.Thr1085=)
n.3919C>G
n.3904C>G
n.4820C>G
 dbSNP gnomAD v2 gnomAD v4
1g.5863977G=CA1151209225NPHP4c.4053C= (p.Thr1351=)
n.3204C=
c.*2954C= (n.*2954C=)
n.2801C=
n.3785C=
c.*1864C= (n.*1864C=)
c.2514C= (p.Thr838=)
c.2517C= (p.Thr839=)
n.4868C=
c.4050C= (p.Thr1350=)
c.4011C= (p.Thr1337=)
c.3942C= (p.Thr1314=)
c.3999C= (p.Thr1333=)
c.4008C= (p.Thr1336=)
c.3525C= (p.Thr1175=)
c.3255C= (p.Thr1085=)
n.3919C=
n.3904C=
n.4820C=
1g.5863977G>TCA415787024NPHP4c.4053C>A (p.Thr1351=)
n.3204C>A
c.*2954C>A (n.*2954C>A)
n.2801C>A
n.3785C>A
c.*1864C>A (n.*1864C>A)
c.2514C>A (p.Thr838=)
c.2517C>A (p.Thr839=)
n.4868C>A
c.4050C>A (p.Thr1350=)
c.4011C>A (p.Thr1337=)
c.3942C>A (p.Thr1314=)
c.3999C>A (p.Thr1333=)
c.4008C>A (p.Thr1336=)
c.3525C>A (p.Thr1175=)
c.3255C>A (p.Thr1085=)
n.3919C>A
n.3904C>A
n.4820C>A
 gnomAD v4
1g.5863978G>ACA338049084NPHP4c.4052C>T (p.Thr1351Ile)
n.3203C>T
c.*2953C>T (n.*2953C>T)
n.2800C>T
n.3784C>T
c.*1863C>T (n.*1863C>T)
c.2513C>T (p.Thr838Ile)
c.2516C>T (p.Thr839Ile)
n.4867C>T
c.4049C>T (p.Thr1350Ile)
c.4010C>T (p.Thr1337Ile)
c.3941C>T (p.Thr1314Ile)
c.3998C>T (p.Thr1333Ile)
c.4007C>T (p.Thr1336Ile)
c.3524C>T (p.Thr1175Ile)
c.3254C>T (p.Thr1085Ile)
n.3918C>T
n.3903C>T
n.4819C>T
1g.5863978G>CCA338049085NPHP4c.4052C>G (p.Thr1351Ser)
n.3203C>G
c.*2953C>G (n.*2953C>G)
n.2800C>G
n.3784C>G
c.*1863C>G (n.*1863C>G)
c.2513C>G (p.Thr838Ser)
c.2516C>G (p.Thr839Ser)
n.4867C>G
c.4049C>G (p.Thr1350Ser)
c.4010C>G (p.Thr1337Ser)
c.3941C>G (p.Thr1314Ser)
c.3998C>G (p.Thr1333Ser)
c.4007C>G (p.Thr1336Ser)
c.3524C>G (p.Thr1175Ser)
c.3254C>G (p.Thr1085Ser)
n.3918C>G
n.3903C>G
n.4819C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.5863978G=CA1151209228NPHP4c.4052C= (p.Thr1351=)
n.3203C=
c.*2953C= (n.*2953C=)
n.2800C=
n.3784C=
c.*1863C= (n.*1863C=)
c.2513C= (p.Thr838=)
c.2516C= (p.Thr839=)
n.4867C=
c.4049C= (p.Thr1350=)
c.4010C= (p.Thr1337=)
c.3941C= (p.Thr1314=)
c.3998C= (p.Thr1333=)
c.4007C= (p.Thr1336=)
c.3524C= (p.Thr1175=)
c.3254C= (p.Thr1085=)
n.3918C=
n.3903C=
n.4819C=
1g.5863978G>TCA338049088NPHP4c.4052C>A (p.Thr1351Asn)
n.3203C>A
c.*2953C>A (n.*2953C>A)
n.2800C>A
n.3784C>A
c.*1863C>A (n.*1863C>A)
c.2513C>A (p.Thr838Asn)
c.2516C>A (p.Thr839Asn)
n.4867C>A
c.4049C>A (p.Thr1350Asn)
c.4010C>A (p.Thr1337Asn)
c.3941C>A (p.Thr1314Asn)
c.3998C>A (p.Thr1333Asn)
c.4007C>A (p.Thr1336Asn)
c.3524C>A (p.Thr1175Asn)
c.3254C>A (p.Thr1085Asn)
n.3918C>A
n.3903C>A
n.4819C>A
1g.5863979T>ACA338049089NPHP4c.4051A>T (p.Thr1351Ser)
n.3202A>T
c.*2952A>T (n.*2952A>T)
n.2799A>T
n.3783A>T
c.*1862A>T (n.*1862A>T)
c.2512A>T (p.Thr838Ser)
c.2515A>T (p.Thr839Ser)
n.4866A>T
c.4048A>T (p.Thr1350Ser)
c.4009A>T (p.Thr1337Ser)
c.3940A>T (p.Thr1314Ser)
c.3997A>T (p.Thr1333Ser)
c.4006A>T (p.Thr1336Ser)
c.3523A>T (p.Thr1175Ser)
c.3253A>T (p.Thr1085Ser)
n.3917A>T
n.3902A>T
n.4818A>T
1g.5863979T>CCA338049091NPHP4c.4051A>G (p.Thr1351Ala)
n.3202A>G
c.*2952A>G (n.*2952A>G)
n.2799A>G
n.3783A>G
c.*1862A>G (n.*1862A>G)
c.2512A>G (p.Thr838Ala)
c.2515A>G (p.Thr839Ala)
n.4866A>G
c.4048A>G (p.Thr1350Ala)
c.4009A>G (p.Thr1337Ala)
c.3940A>G (p.Thr1314Ala)
c.3997A>G (p.Thr1333Ala)
c.4006A>G (p.Thr1336Ala)
c.3523A>G (p.Thr1175Ala)
c.3253A>G (p.Thr1085Ala)
n.3917A>G
n.3902A>G
n.4818A>G
1g.5863979T>GCA553369NPHP4c.4051A>C (p.Thr1351Pro)
n.3202A>C
c.*2952A>C (n.*2952A>C)
n.2799A>C
n.3783A>C
c.*1862A>C (n.*1862A>C)
c.2512A>C (p.Thr838Pro)
c.2515A>C (p.Thr839Pro)
n.4866A>C
c.4048A>C (p.Thr1350Pro)
c.4009A>C (p.Thr1337Pro)
c.3940A>C (p.Thr1314Pro)
c.3997A>C (p.Thr1333Pro)
c.4006A>C (p.Thr1336Pro)
c.3523A>C (p.Thr1175Pro)
c.3253A>C (p.Thr1085Pro)
n.3917A>C
n.3902A>C
n.4818A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.5863979T=CA1148286732NPHP4c.4051A= (p.Thr1351=)
n.3202A=
c.*2952A= (n.*2952A=)
n.2799A=
n.3783A=
c.*1862A= (n.*1862A=)
c.2512A= (p.Thr838=)
c.2515A= (p.Thr839=)
n.4866A=
c.4048A= (p.Thr1350=)
c.4009A= (p.Thr1337=)
c.3940A= (p.Thr1314=)
c.3997A= (p.Thr1333=)
c.4006A= (p.Thr1336=)
c.3523A= (p.Thr1175=)
c.3253A= (p.Thr1085=)
n.3917A=
n.3902A=
n.4818A=
1g.5863980delCA2642901904NPHP4c.4050del (p.Thr1351ProfsTer?)
n.3201del
c.*2951del (n.*2951del)
n.2798del
n.3782del
c.*1861del (n.*1861del)
c.2511del (p.Thr838ProfsTer?)
c.2514del (p.Thr839ProfsTer?)
n.4865del
c.4047del (p.Thr1350ProfsTer?)
c.4008del (p.Thr1337ProfsTer?)
c.3939del (p.Thr1314ProfsTer?)
c.3996del (p.Thr1333ProfsTer?)
c.4005del (p.Thr1336ProfsTer?)
c.3522del (p.Thr1175ProfsTer?)
c.3252del (p.Thr1085ProfsTer?)
n.3916del
n.3901del
n.4817del
 gnomAD v4
1g.5863980G>ACA415787025NPHP4c.4050C>T (p.Ile1350=)
n.3201C>T
c.*2951C>T (n.*2951C>T)
n.2798C>T
n.3782C>T
c.*1861C>T (n.*1861C>T)
c.2511C>T (p.Ile837=)
c.2514C>T (p.Ile838=)
n.4865C>T
c.4047C>T (p.Ile1349=)
c.4008C>T (p.Ile1336=)
c.3939C>T (p.Ile1313=)
c.3996C>T (p.Ile1332=)
c.4005C>T (p.Ile1335=)
c.3522C>T (p.Ile1174=)
c.3252C>T (p.Ile1084=)
n.3916C>T
n.3901C>T
n.4817C>T
1g.5863980G>CCA338049094NPHP4c.4050C>G (p.Ile1350Met)
n.3201C>G
c.*2951C>G (n.*2951C>G)
n.2798C>G
n.3782C>G
c.*1861C>G (n.*1861C>G)
c.2511C>G (p.Ile837Met)
c.2514C>G (p.Ile838Met)
n.4865C>G
c.4047C>G (p.Ile1349Met)
c.4008C>G (p.Ile1336Met)
c.3939C>G (p.Ile1313Met)
c.3996C>G (p.Ile1332Met)
c.4005C>G (p.Ile1335Met)
c.3522C>G (p.Ile1174Met)
c.3252C>G (p.Ile1084Met)
n.3916C>G
n.3901C>G
n.4817C>G
1g.5863980G=CA1151209243NPHP4c.4050C= (p.Ile1350=)
n.3201C=
c.*2951C= (n.*2951C=)
n.2798C=
n.3782C=
c.*1861C= (n.*1861C=)
c.2511C= (p.Ile837=)
c.2514C= (p.Ile838=)
n.4865C=
c.4047C= (p.Ile1349=)
c.4008C= (p.Ile1336=)
c.3939C= (p.Ile1313=)
c.3996C= (p.Ile1332=)
c.4005C= (p.Ile1335=)
c.3522C= (p.Ile1174=)
c.3252C= (p.Ile1084=)
n.3916C=
n.3901C=
n.4817C=
1g.5863980G>TCA553370NPHP4c.4050C>A (p.Ile1350=)
n.3201C>A
c.*2951C>A (n.*2951C>A)
n.2798C>A
n.3782C>A
c.*1861C>A (n.*1861C>A)
c.2511C>A (p.Ile837=)
c.2514C>A (p.Ile838=)
n.4865C>A
c.4047C>A (p.Ile1349=)
c.4008C>A (p.Ile1336=)
c.3939C>A (p.Ile1313=)
c.3996C>A (p.Ile1332=)
c.4005C>A (p.Ile1335=)
c.3522C>A (p.Ile1174=)
c.3252C>A (p.Ile1084=)
n.3916C>A
n.3901C>A
n.4817C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5863981A>CCA338049096NPHP4c.4049T>G (p.Ile1350Ser)
n.3200T>G
c.*2950T>G (n.*2950T>G)
n.2797T>G
n.3781T>G
c.*1860T>G (n.*1860T>G)
c.2510T>G (p.Ile837Ser)
c.2513T>G (p.Ile838Ser)
n.4864T>G
c.4046T>G (p.Ile1349Ser)
c.4007T>G (p.Ile1336Ser)
c.3938T>G (p.Ile1313Ser)
c.3995T>G (p.Ile1332Ser)
c.4004T>G (p.Ile1335Ser)
c.3521T>G (p.Ile1174Ser)
c.3251T>G (p.Ile1084Ser)
n.3915T>G
n.3900T>G
n.4816T>G
1g.5863981A>GCA338049098NPHP4c.4049T>C (p.Ile1350Thr)
n.3200T>C
c.*2950T>C (n.*2950T>C)
n.2797T>C
n.3781T>C
c.*1860T>C (n.*1860T>C)
c.2510T>C (p.Ile837Thr)
c.2513T>C (p.Ile838Thr)
n.4864T>C
c.4046T>C (p.Ile1349Thr)
c.4007T>C (p.Ile1336Thr)
c.3938T>C (p.Ile1313Thr)
c.3995T>C (p.Ile1332Thr)
c.4004T>C (p.Ile1335Thr)
c.3521T>C (p.Ile1174Thr)
c.3251T>C (p.Ile1084Thr)
n.3915T>C
n.3900T>C
n.4816T>C
1g.5863981A>TCA338049100NPHP4c.4049T>A (p.Ile1350Asn)
n.3200T>A
c.*2950T>A (n.*2950T>A)
n.2797T>A
n.3781T>A
c.*1860T>A (n.*1860T>A)
c.2510T>A (p.Ile837Asn)
c.2513T>A (p.Ile838Asn)
n.4864T>A
c.4046T>A (p.Ile1349Asn)
c.4007T>A (p.Ile1336Asn)
c.3938T>A (p.Ile1313Asn)
c.3995T>A (p.Ile1332Asn)
c.4004T>A (p.Ile1335Asn)
c.3521T>A (p.Ile1174Asn)
c.3251T>A (p.Ile1084Asn)
n.3915T>A
n.3900T>A
n.4816T>A
1g.5863982T>ACA338049102NPHP4c.4048A>T (p.Ile1350Phe)
n.3199A>T
c.*2949A>T (n.*2949A>T)
n.2796A>T
n.3780A>T
c.*1859A>T (n.*1859A>T)
c.2509A>T (p.Ile837Phe)
c.2512A>T (p.Ile838Phe)
n.4863A>T
c.4045A>T (p.Ile1349Phe)
c.4006A>T (p.Ile1336Phe)
c.3937A>T (p.Ile1313Phe)
c.3994A>T (p.Ile1332Phe)
c.4003A>T (p.Ile1335Phe)
c.3520A>T (p.Ile1174Phe)
c.3250A>T (p.Ile1084Phe)
n.3914A>T
n.3899A>T
n.4815A>T
1g.5863982T>CCA338049104NPHP4c.4048A>G (p.Ile1350Val)
n.3199A>G
c.*2949A>G (n.*2949A>G)
n.2796A>G
n.3780A>G
c.*1859A>G (n.*1859A>G)
c.2509A>G (p.Ile837Val)
c.2512A>G (p.Ile838Val)
n.4863A>G
c.4045A>G (p.Ile1349Val)
c.4006A>G (p.Ile1336Val)
c.3937A>G (p.Ile1313Val)
c.3994A>G (p.Ile1332Val)
c.4003A>G (p.Ile1335Val)
c.3520A>G (p.Ile1174Val)
c.3250A>G (p.Ile1084Val)
n.3914A>G
n.3899A>G
n.4815A>G
 gnomAD v4
1g.5863982T>GCA338049105NPHP4c.4048A>C (p.Ile1350Leu)
n.3199A>C
c.*2949A>C (n.*2949A>C)
n.2796A>C
n.3780A>C
c.*1859A>C (n.*1859A>C)
c.2509A>C (p.Ile837Leu)
c.2512A>C (p.Ile838Leu)
n.4863A>C
c.4045A>C (p.Ile1349Leu)
c.4006A>C (p.Ile1336Leu)
c.3937A>C (p.Ile1313Leu)
c.3994A>C (p.Ile1332Leu)
c.4003A>C (p.Ile1335Leu)
c.3520A>C (p.Ile1174Leu)
c.3250A>C (p.Ile1084Leu)
n.3914A>C
n.3899A>C
n.4815A>C
1g.5863983C>ACA338049106NPHP4c.4047G>T (p.Arg1349Ser)
n.3198G>T
c.*2948G>T (n.*2948G>T)
n.2795G>T
n.3779G>T
c.*1858G>T (n.*1858G>T)
c.2508G>T (p.Arg836Ser)
c.2511G>T (p.Arg837Ser)
n.4862G>T
c.4044G>T (p.Arg1348Ser)
c.4005G>T (p.Arg1335Ser)
c.3936G>T (p.Arg1312Ser)
c.3993G>T (p.Arg1331Ser)
c.4002G>T (p.Arg1334Ser)
c.3519G>T (p.Arg1173Ser)
c.3249G>T (p.Arg1083Ser)
n.3913G>T
n.3898G>T
n.4814G>T
1g.5863983C>GCA338049108NPHP4c.4047G>C (p.Arg1349Ser)
n.3198G>C
c.*2948G>C (n.*2948G>C)
n.2795G>C
n.3779G>C
c.*1858G>C (n.*1858G>C)
c.2508G>C (p.Arg836Ser)
c.2511G>C (p.Arg837Ser)
n.4862G>C
c.4044G>C (p.Arg1348Ser)
c.4005G>C (p.Arg1335Ser)
c.3936G>C (p.Arg1312Ser)
c.3993G>C (p.Arg1331Ser)
c.4002G>C (p.Arg1334Ser)
c.3519G>C (p.Arg1173Ser)
c.3249G>C (p.Arg1083Ser)
n.3913G>C
n.3898G>C
n.4814G>C
 gnomAD v4
1g.5863983C>TCA415787026NPHP4c.4047G>A (p.Arg1349=)
n.3198G>A
c.*2948G>A (n.*2948G>A)
n.2795G>A
n.3779G>A
c.*1858G>A (n.*1858G>A)
c.2508G>A (p.Arg836=)
c.2511G>A (p.Arg837=)
n.4862G>A
c.4044G>A (p.Arg1348=)
c.4005G>A (p.Arg1335=)
c.3936G>A (p.Arg1312=)
c.3993G>A (p.Arg1331=)
c.4002G>A (p.Arg1334=)
c.3519G>A (p.Arg1173=)
c.3249G>A (p.Arg1083=)
n.3913G>A
n.3898G>A
n.4814G>A
1g.5863984C>ACA338049110NPHP4c.4046G>T (p.Arg1349Met)
n.3197G>T
c.*2947G>T (n.*2947G>T)
n.2794G>T
n.3778G>T
c.*1857G>T (n.*1857G>T)
c.2507G>T (p.Arg836Met)
c.2510G>T (p.Arg837Met)
n.4861G>T
c.4043G>T (p.Arg1348Met)
c.4004G>T (p.Arg1335Met)
c.3935G>T (p.Arg1312Met)
c.3992G>T (p.Arg1331Met)
c.4001G>T (p.Arg1334Met)
c.3518G>T (p.Arg1173Met)
c.3248G>T (p.Arg1083Met)
n.3912G>T
n.3897G>T
n.4813G>T
1g.5863984C>GCA338049112NPHP4c.4046G>C (p.Arg1349Thr)
n.3197G>C
c.*2947G>C (n.*2947G>C)
n.2794G>C
n.3778G>C
c.*1857G>C (n.*1857G>C)
c.2507G>C (p.Arg836Thr)
c.2510G>C (p.Arg837Thr)
n.4861G>C
c.4043G>C (p.Arg1348Thr)
c.4004G>C (p.Arg1335Thr)
c.3935G>C (p.Arg1312Thr)
c.3992G>C (p.Arg1331Thr)
c.4001G>C (p.Arg1334Thr)
c.3518G>C (p.Arg1173Thr)
c.3248G>C (p.Arg1083Thr)
n.3912G>C
n.3897G>C
n.4813G>C
1g.5863984C>TCA338049113NPHP4c.4046G>A (p.Arg1349Lys)
n.3197G>A
c.*2947G>A (n.*2947G>A)
n.2794G>A
n.3778G>A
c.*1857G>A (n.*1857G>A)
c.2507G>A (p.Arg836Lys)
c.2510G>A (p.Arg837Lys)
n.4861G>A
c.4043G>A (p.Arg1348Lys)
c.4004G>A (p.Arg1335Lys)
c.3935G>A (p.Arg1312Lys)
c.3992G>A (p.Arg1331Lys)
c.4001G>A (p.Arg1334Lys)
c.3518G>A (p.Arg1173Lys)
c.3248G>A (p.Arg1083Lys)
n.3912G>A
n.3897G>A
n.4813G>A
 ClinVar dbSNP gnomAD v4
1g.5863984_5863999delinsCTCTTGTTGACACCCTCA1151209251NPHP4c.4031_4046delinsAGGGTGTCAACAAGAG (p.Lys1344=)
n.3182_3197delinsAGGGTGTCAACAAGAG
c.*2932_*2947delinsAGGGTGTCAACAAGAG (n.*2932_*2947delinsAGGGTGTCAACAAGAG)
n.2779_2794delinsAGGGTGTCAACAAGAG
n.3763_3778delinsAGGGTGTCAACAAGAG
c.*1842_*1857delinsAGGGTGTCAACAAGAG (n.*1842_*1857delinsAGGGTGTCAACAAGAG)
c.2492_2507delinsAGGGTGTCAACAAGAG (p.Lys831=)
c.2495_2510delinsAGGGTGTCAACAAGAG (p.Lys832=)
n.4846_4861delinsAGGGTGTCAACAAGAG
c.4028_4043delinsAGGGTGTCAACAAGAG (p.Lys1343=)
c.3989_4004delinsAGGGTGTCAACAAGAG (p.Lys1330=)
c.3920_3935delinsAGGGTGTCAACAAGAG (p.Lys1307=)
c.3977_3992delinsAGGGTGTCAACAAGAG (p.Lys1326=)
c.3986_4001delinsAGGGTGTCAACAAGAG (p.Lys1329=)
c.3503_3518delinsAGGGTGTCAACAAGAG (p.Lys1168=)
c.3233_3248delinsAGGGTGTCAACAAGAG (p.Lys1078=)
n.3897_3912delinsAGGGTGTCAACAAGAG
n.3882_3897delinsAGGGTGTCAACAAGAG
n.4798_4813delinsAGGGTGTCAACAAGAG
1g.5863985T>ACA338049116NPHP4c.4045A>T (p.Arg1349Trp)
n.3196A>T
c.*2946A>T (n.*2946A>T)
n.2793A>T
n.3777A>T
c.*1856A>T (n.*1856A>T)
c.2506A>T (p.Arg836Trp)
c.2509A>T (p.Arg837Trp)
n.4860A>T
c.4042A>T (p.Arg1348Trp)
c.4003A>T (p.Arg1335Trp)
c.3934A>T (p.Arg1312Trp)
c.3991A>T (p.Arg1331Trp)
c.4000A>T (p.Arg1334Trp)
c.3517A>T (p.Arg1173Trp)
c.3247A>T (p.Arg1083Trp)
n.3911A>T
n.3896A>T
n.4812A>T
1g.5863985T>CCA338049118NPHP4c.4045A>G (p.Arg1349Gly)
n.3196A>G
c.*2946A>G (n.*2946A>G)
n.2793A>G
n.3777A>G
c.*1856A>G (n.*1856A>G)
c.2506A>G (p.Arg836Gly)
c.2509A>G (p.Arg837Gly)
n.4860A>G
c.4042A>G (p.Arg1348Gly)
c.4003A>G (p.Arg1335Gly)
c.3934A>G (p.Arg1312Gly)
c.3991A>G (p.Arg1331Gly)
c.4000A>G (p.Arg1334Gly)
c.3517A>G (p.Arg1173Gly)
c.3247A>G (p.Arg1083Gly)
n.3911A>G
n.3896A>G
n.4812A>G
1g.5863985T>GCA415787027NPHP4c.4045A>C (p.Arg1349=)
n.3196A>C
c.*2946A>C (n.*2946A>C)
n.2793A>C
n.3777A>C
c.*1856A>C (n.*1856A>C)
c.2506A>C (p.Arg836=)
c.2509A>C (p.Arg837=)
n.4860A>C
c.4042A>C (p.Arg1348=)
c.4003A>C (p.Arg1335=)
c.3934A>C (p.Arg1312=)
c.3991A>C (p.Arg1331=)
c.4000A>C (p.Arg1334=)
c.3517A>C (p.Arg1173=)
c.3247A>C (p.Arg1083=)
n.3911A>C
n.3896A>C
n.4812A>C
1g.5863987_5864001delCA1151209254NPHP4c.4031_4045del (p.Lys1344_Lys1348del)
n.3182_3196del
c.*2932_*2946del (n.*2932_*2946del)
n.2779_2793del
n.3763_3777del
c.*1842_*1856del (n.*1842_*1856del)
c.2492_2506del (p.Lys831_Lys835del)
c.2495_2509del (p.Lys832_Lys836del)
n.4846_4860del
c.4028_4042del (p.Lys1343_Lys1347del)
c.3989_4003del (p.Lys1330_Lys1334del)
c.3920_3934del (p.Lys1307_Lys1311del)
c.3977_3991del (p.Lys1326_Lys1330del)
c.3986_4000del (p.Lys1329_Lys1333del)
c.3503_3517del (p.Lys1168_Lys1172del)
c.3233_3247del (p.Lys1078_Lys1082del)
n.3897_3911del
n.3882_3896del
n.4798_4812del
 dbSNP
1g.5863986C>ACA338049119NPHP4c.4044G>T (p.Lys1348Asn)
n.3195G>T
c.*2945G>T (n.*2945G>T)
n.2792G>T
n.3776G>T
c.*1855G>T (n.*1855G>T)
c.2505G>T (p.Lys835Asn)
c.2508G>T (p.Lys836Asn)
n.4859G>T
c.4041G>T (p.Lys1347Asn)
c.4002G>T (p.Lys1334Asn)
c.3933G>T (p.Lys1311Asn)
c.3990G>T (p.Lys1330Asn)
c.3999G>T (p.Lys1333Asn)
c.3516G>T (p.Lys1172Asn)
c.3246G>T (p.Lys1082Asn)
n.3910G>T
n.3895G>T
n.4811G>T
1g.5863986C>GCA338049121NPHP4c.4044G>C (p.Lys1348Asn)
n.3195G>C
c.*2945G>C (n.*2945G>C)
n.2792G>C
n.3776G>C
c.*1855G>C (n.*1855G>C)
c.2505G>C (p.Lys835Asn)
c.2508G>C (p.Lys836Asn)
n.4859G>C
c.4041G>C (p.Lys1347Asn)
c.4002G>C (p.Lys1334Asn)
c.3933G>C (p.Lys1311Asn)
c.3990G>C (p.Lys1330Asn)
c.3999G>C (p.Lys1333Asn)
c.3516G>C (p.Lys1172Asn)
c.3246G>C (p.Lys1082Asn)
n.3910G>C
n.3895G>C
n.4811G>C
1g.5863986C>TCA415787028NPHP4c.4044G>A (p.Lys1348=)
n.3195G>A
c.*2945G>A (n.*2945G>A)
n.2792G>A
n.3776G>A
c.*1855G>A (n.*1855G>A)
c.2505G>A (p.Lys835=)
c.2508G>A (p.Lys836=)
n.4859G>A
c.4041G>A (p.Lys1347=)
c.4002G>A (p.Lys1334=)
c.3933G>A (p.Lys1311=)
c.3990G>A (p.Lys1330=)
c.3999G>A (p.Lys1333=)
c.3516G>A (p.Lys1172=)
c.3246G>A (p.Lys1082=)
n.3910G>A
n.3895G>A
n.4811G>A
1g.5863987T>ACA338049123NPHP4c.4043A>T (p.Lys1348Met)
n.3194A>T
c.*2944A>T (n.*2944A>T)
n.2791A>T
n.3775A>T
c.*1854A>T (n.*1854A>T)
c.2504A>T (p.Lys835Met)
c.2507A>T (p.Lys836Met)
n.4858A>T
c.4040A>T (p.Lys1347Met)
c.4001A>T (p.Lys1334Met)
c.3932A>T (p.Lys1311Met)
c.3989A>T (p.Lys1330Met)
c.3998A>T (p.Lys1333Met)
c.3515A>T (p.Lys1172Met)
c.3245A>T (p.Lys1082Met)
n.3909A>T
n.3894A>T
n.4810A>T
1g.5863987T>CCA338049125NPHP4c.4043A>G (p.Lys1348Arg)
n.3194A>G
c.*2944A>G (n.*2944A>G)
n.2791A>G
n.3775A>G
c.*1854A>G (n.*1854A>G)
c.2504A>G (p.Lys835Arg)
c.2507A>G (p.Lys836Arg)
n.4858A>G
c.4040A>G (p.Lys1347Arg)
c.4001A>G (p.Lys1334Arg)
c.3932A>G (p.Lys1311Arg)
c.3989A>G (p.Lys1330Arg)
c.3998A>G (p.Lys1333Arg)
c.3515A>G (p.Lys1172Arg)
c.3245A>G (p.Lys1082Arg)
n.3909A>G
n.3894A>G
n.4810A>G
1g.5863987T>GCA338049126NPHP4c.4043A>C (p.Lys1348Thr)
n.3194A>C
c.*2944A>C (n.*2944A>C)
n.2791A>C
n.3775A>C
c.*1854A>C (n.*1854A>C)
c.2504A>C (p.Lys835Thr)
c.2507A>C (p.Lys836Thr)
n.4858A>C
c.4040A>C (p.Lys1347Thr)
c.4001A>C (p.Lys1334Thr)
c.3932A>C (p.Lys1311Thr)
c.3989A>C (p.Lys1330Thr)
c.3998A>C (p.Lys1333Thr)
c.3515A>C (p.Lys1172Thr)
c.3245A>C (p.Lys1082Thr)
n.3909A>C
n.3894A>C
n.4810A>C
1g.5863988T>ACA338049129NPHP4c.4042A>T (p.Lys1348Ter)
n.3193A>T
c.*2943A>T (n.*2943A>T)
n.2790A>T
n.3774A>T
c.*1853A>T (n.*1853A>T)
c.2503A>T (p.Lys835Ter)
c.2506A>T (p.Lys836Ter)
n.4857A>T
c.4039A>T (p.Lys1347Ter)
c.4000A>T (p.Lys1334Ter)
c.3931A>T (p.Lys1311Ter)
c.3988A>T (p.Lys1330Ter)
c.3997A>T (p.Lys1333Ter)
c.3514A>T (p.Lys1172Ter)
c.3244A>T (p.Lys1082Ter)
n.3908A>T
n.3893A>T
n.4809A>T
1g.5863988T>CCA338049130NPHP4c.4042A>G (p.Lys1348Glu)
n.3193A>G
c.*2943A>G (n.*2943A>G)
n.2790A>G
n.3774A>G
c.*1853A>G (n.*1853A>G)
c.2503A>G (p.Lys835Glu)
c.2506A>G (p.Lys836Glu)
n.4857A>G
c.4039A>G (p.Lys1347Glu)
c.4000A>G (p.Lys1334Glu)
c.3931A>G (p.Lys1311Glu)
c.3988A>G (p.Lys1330Glu)
c.3997A>G (p.Lys1333Glu)
c.3514A>G (p.Lys1172Glu)
c.3244A>G (p.Lys1082Glu)
n.3908A>G
n.3893A>G
n.4809A>G
1g.5863988T>GCA338049132NPHP4c.4042A>C (p.Lys1348Gln)
n.3193A>C
c.*2943A>C (n.*2943A>C)
n.2790A>C
n.3774A>C
c.*1853A>C (n.*1853A>C)
c.2503A>C (p.Lys835Gln)
c.2506A>C (p.Lys836Gln)
n.4857A>C
c.4039A>C (p.Lys1347Gln)
c.4000A>C (p.Lys1334Gln)
c.3931A>C (p.Lys1311Gln)
c.3988A>C (p.Lys1330Gln)
c.3997A>C (p.Lys1333Gln)
c.3514A>C (p.Lys1172Gln)
c.3244A>C (p.Lys1082Gln)
n.3908A>C
n.3893A>C
n.4809A>C
1g.5863989G>ACA415787029NPHP4c.4041C>T (p.Asn1347=)
n.3192C>T
c.*2942C>T (n.*2942C>T)
n.2789C>T
n.3773C>T
c.*1852C>T (n.*1852C>T)
c.2502C>T (p.Asn834=)
c.2505C>T (p.Asn835=)
n.4856C>T
c.4038C>T (p.Asn1346=)
c.3999C>T (p.Asn1333=)
c.3930C>T (p.Asn1310=)
c.3987C>T (p.Asn1329=)
c.3996C>T (p.Asn1332=)
c.3513C>T (p.Asn1171=)
c.3243C>T (p.Asn1081=)
n.3907C>T
n.3892C>T
n.4808C>T
1g.5863989G>CCA338049135NPHP4c.4041C>G (p.Asn1347Lys)
n.3192C>G
c.*2942C>G (n.*2942C>G)
n.2789C>G
n.3773C>G
c.*1852C>G (n.*1852C>G)
c.2502C>G (p.Asn834Lys)
c.2505C>G (p.Asn835Lys)
n.4856C>G
c.4038C>G (p.Asn1346Lys)
c.3999C>G (p.Asn1333Lys)
c.3930C>G (p.Asn1310Lys)
c.3987C>G (p.Asn1329Lys)
c.3996C>G (p.Asn1332Lys)
c.3513C>G (p.Asn1171Lys)
c.3243C>G (p.Asn1081Lys)
n.3907C>G
n.3892C>G
n.4808C>G
1g.5863989G=CA1151209256NPHP4c.4041C= (p.Asn1347=)
n.3192C=
c.*2942C= (n.*2942C=)
n.2789C=
n.3773C=
c.*1852C= (n.*1852C=)
c.2502C= (p.Asn834=)
c.2505C= (p.Asn835=)
n.4856C=
c.4038C= (p.Asn1346=)
c.3999C= (p.Asn1333=)
c.3930C= (p.Asn1310=)
c.3987C= (p.Asn1329=)
c.3996C= (p.Asn1332=)
c.3513C= (p.Asn1171=)
c.3243C= (p.Asn1081=)
n.3907C=
n.3892C=
n.4808C=
1g.5863989G>TCA338049133NPHP4c.4041C>A (p.Asn1347Lys)
n.3192C>A
c.*2942C>A (n.*2942C>A)
n.2789C>A
n.3773C>A
c.*1852C>A (n.*1852C>A)
c.2502C>A (p.Asn834Lys)
c.2505C>A (p.Asn835Lys)
n.4856C>A
c.4038C>A (p.Asn1346Lys)
c.3999C>A (p.Asn1333Lys)
c.3930C>A (p.Asn1310Lys)
c.3987C>A (p.Asn1329Lys)
c.3996C>A (p.Asn1332Lys)
c.3513C>A (p.Asn1171Lys)
c.3243C>A (p.Asn1081Lys)
n.3907C>A
n.3892C>A
n.4808C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.5863990T>ACA338049137NPHP4c.4040A>T (p.Asn1347Ile)
n.3191A>T
c.*2941A>T (n.*2941A>T)
n.2788A>T
n.3772A>T
c.*1851A>T (n.*1851A>T)
c.2501A>T (p.Asn834Ile)
c.2504A>T (p.Asn835Ile)
n.4855A>T
c.4037A>T (p.Asn1346Ile)
c.3998A>T (p.Asn1333Ile)
c.3929A>T (p.Asn1310Ile)
c.3986A>T (p.Asn1329Ile)
c.3995A>T (p.Asn1332Ile)
c.3512A>T (p.Asn1171Ile)
c.3242A>T (p.Asn1081Ile)
n.3906A>T
n.3891A>T
n.4807A>T
1g.5863990T>CCA338049139NPHP4c.4040A>G (p.Asn1347Ser)
n.3191A>G
c.*2941A>G (n.*2941A>G)
n.2788A>G
n.3772A>G
c.*1851A>G (n.*1851A>G)
c.2501A>G (p.Asn834Ser)
c.2504A>G (p.Asn835Ser)
n.4855A>G
c.4037A>G (p.Asn1346Ser)
c.3998A>G (p.Asn1333Ser)
c.3929A>G (p.Asn1310Ser)
c.3986A>G (p.Asn1329Ser)
c.3995A>G (p.Asn1332Ser)
c.3512A>G (p.Asn1171Ser)
c.3242A>G (p.Asn1081Ser)
n.3906A>G
n.3891A>G
n.4807A>G
1g.5863990T>GCA338049140NPHP4c.4040A>C (p.Asn1347Thr)
n.3191A>C
c.*2941A>C (n.*2941A>C)
n.2788A>C
n.3772A>C
c.*1851A>C (n.*1851A>C)
c.2501A>C (p.Asn834Thr)
c.2504A>C (p.Asn835Thr)
n.4855A>C
c.4037A>C (p.Asn1346Thr)
c.3998A>C (p.Asn1333Thr)
c.3929A>C (p.Asn1310Thr)
c.3986A>C (p.Asn1329Thr)
c.3995A>C (p.Asn1332Thr)
c.3512A>C (p.Asn1171Thr)
c.3242A>C (p.Asn1081Thr)
n.3906A>C
n.3891A>C
n.4807A>C
1g.5863991T>ACA338049142NPHP4c.4039A>T (p.Asn1347Tyr)
n.3190A>T
c.*2940A>T (n.*2940A>T)
n.2787A>T
n.3771A>T
c.*1850A>T (n.*1850A>T)
c.2500A>T (p.Asn834Tyr)
c.2503A>T (p.Asn835Tyr)
n.4854A>T
c.4036A>T (p.Asn1346Tyr)
c.3997A>T (p.Asn1333Tyr)
c.3928A>T (p.Asn1310Tyr)
c.3985A>T (p.Asn1329Tyr)
c.3994A>T (p.Asn1332Tyr)
c.3511A>T (p.Asn1171Tyr)
c.3241A>T (p.Asn1081Tyr)
n.3905A>T
n.3890A>T
n.4806A>T
1g.5863991T>CCA338049144NPHP4c.4039A>G (p.Asn1347Asp)
n.3190A>G
c.*2940A>G (n.*2940A>G)
n.2787A>G
n.3771A>G
c.*1850A>G (n.*1850A>G)
c.2500A>G (p.Asn834Asp)
c.2503A>G (p.Asn835Asp)
n.4854A>G
c.4036A>G (p.Asn1346Asp)
c.3997A>G (p.Asn1333Asp)
c.3928A>G (p.Asn1310Asp)
c.3985A>G (p.Asn1329Asp)
c.3994A>G (p.Asn1332Asp)
c.3511A>G (p.Asn1171Asp)
c.3241A>G (p.Asn1081Asp)
n.3905A>G
n.3890A>G
n.4806A>G
 COSMIC
1g.5863991T>GCA338049146NPHP4c.4039A>C (p.Asn1347His)
n.3190A>C
c.*2940A>C (n.*2940A>C)
n.2787A>C
n.3771A>C
c.*1850A>C (n.*1850A>C)
c.2500A>C (p.Asn834His)
c.2503A>C (p.Asn835His)
n.4854A>C
c.4036A>C (p.Asn1346His)
c.3997A>C (p.Asn1333His)
c.3928A>C (p.Asn1310His)
c.3985A>C (p.Asn1329His)
c.3994A>C (p.Asn1332His)
c.3511A>C (p.Asn1171His)
c.3241A>C (p.Asn1081His)
n.3905A>C
n.3890A>C
n.4806A>C
1g.5863992G>ACA415787030NPHP4c.4038C>T (p.Val1346=)
n.3189C>T
c.*2939C>T (n.*2939C>T)
n.2786C>T
n.3770C>T
c.*1849C>T (n.*1849C>T)
c.2499C>T (p.Val833=)
c.2502C>T (p.Val834=)
n.4853C>T
c.4035C>T (p.Val1345=)
c.3996C>T (p.Val1332=)
c.3927C>T (p.Val1309=)
c.3984C>T (p.Val1328=)
c.3993C>T (p.Val1331=)
c.3510C>T (p.Val1170=)
c.3240C>T (p.Val1080=)
n.3904C>T
n.3889C>T
n.4805C>T
1g.5863992G>CCA415787031NPHP4c.4038C>G (p.Val1346=)
n.3189C>G
c.*2939C>G (n.*2939C>G)
n.2786C>G
n.3770C>G
c.*1849C>G (n.*1849C>G)
c.2499C>G (p.Val833=)
c.2502C>G (p.Val834=)
n.4853C>G
c.4035C>G (p.Val1345=)
c.3996C>G (p.Val1332=)
c.3927C>G (p.Val1309=)
c.3984C>G (p.Val1328=)
c.3993C>G (p.Val1331=)
c.3510C>G (p.Val1170=)
c.3240C>G (p.Val1080=)
n.3904C>G
n.3889C>G
n.4805C>G
1g.5863992G>TCA415787032NPHP4c.4038C>A (p.Val1346=)
n.3189C>A
c.*2939C>A (n.*2939C>A)
n.2786C>A
n.3770C>A
c.*1849C>A (n.*1849C>A)
c.2499C>A (p.Val833=)
c.2502C>A (p.Val834=)
n.4853C>A
c.4035C>A (p.Val1345=)
c.3996C>A (p.Val1332=)
c.3927C>A (p.Val1309=)
c.3984C>A (p.Val1328=)
c.3993C>A (p.Val1331=)
c.3510C>A (p.Val1170=)
c.3240C>A (p.Val1080=)
n.3904C>A
n.3889C>A
n.4805C>A
1g.5863992_5863999delinsGACACCCTCA1151209259NPHP4c.4031_4038delinsAGGGTGTC (p.Lys1344=)
n.3182_3189delinsAGGGTGTC
c.*2932_*2939delinsAGGGTGTC (n.*2932_*2939delinsAGGGTGTC)
n.2779_2786delinsAGGGTGTC
n.3763_3770delinsAGGGTGTC
c.*1842_*1849delinsAGGGTGTC (n.*1842_*1849delinsAGGGTGTC)
c.2492_2499delinsAGGGTGTC (p.Lys831=)
c.2495_2502delinsAGGGTGTC (p.Lys832=)
n.4846_4853delinsAGGGTGTC
c.4028_4035delinsAGGGTGTC (p.Lys1343=)
c.3989_3996delinsAGGGTGTC (p.Lys1330=)
c.3920_3927delinsAGGGTGTC (p.Lys1307=)
c.3977_3984delinsAGGGTGTC (p.Lys1326=)
c.3986_3993delinsAGGGTGTC (p.Lys1329=)
c.3503_3510delinsAGGGTGTC (p.Lys1168=)
c.3233_3240delinsAGGGTGTC (p.Lys1078=)
n.3897_3904delinsAGGGTGTC
n.3882_3889delinsAGGGTGTC
n.4798_4805delinsAGGGTGTC
1g.5863993A>CCA338049151NPHP4c.4037T>G (p.Val1346Gly)
n.3188T>G
c.*2938T>G (n.*2938T>G)
n.2785T>G
n.3769T>G
c.*1848T>G (n.*1848T>G)
c.2498T>G (p.Val833Gly)
c.2501T>G (p.Val834Gly)
n.4852T>G
c.4034T>G (p.Val1345Gly)
c.3995T>G (p.Val1332Gly)
c.3926T>G (p.Val1309Gly)
c.3983T>G (p.Val1328Gly)
c.3992T>G (p.Val1331Gly)
c.3509T>G (p.Val1170Gly)
c.3239T>G (p.Val1080Gly)
n.3903T>G
n.3888T>G
n.4804T>G
1g.5863993A>GCA338049148NPHP4c.4037T>C (p.Val1346Ala)
n.3188T>C
c.*2938T>C (n.*2938T>C)
n.2785T>C
n.3769T>C
c.*1848T>C (n.*1848T>C)
c.2498T>C (p.Val833Ala)
c.2501T>C (p.Val834Ala)
n.4852T>C
c.4034T>C (p.Val1345Ala)
c.3995T>C (p.Val1332Ala)
c.3926T>C (p.Val1309Ala)
c.3983T>C (p.Val1328Ala)
c.3992T>C (p.Val1331Ala)
c.3509T>C (p.Val1170Ala)
c.3239T>C (p.Val1080Ala)
n.3903T>C
n.3888T>C
n.4804T>C
1g.5863993A>TCA338049150NPHP4c.4037T>A (p.Val1346Asp)
n.3188T>A
c.*2938T>A (n.*2938T>A)
n.2785T>A
n.3769T>A
c.*1848T>A (n.*1848T>A)
c.2498T>A (p.Val833Asp)
c.2501T>A (p.Val834Asp)
n.4852T>A
c.4034T>A (p.Val1345Asp)
c.3995T>A (p.Val1332Asp)
c.3926T>A (p.Val1309Asp)
c.3983T>A (p.Val1328Asp)
c.3992T>A (p.Val1331Asp)
c.3509T>A (p.Val1170Asp)
c.3239T>A (p.Val1080Asp)
n.3903T>A
n.3888T>A
n.4804T>A
1g.5863993_5863999delCA913189285NPHP4c.4031_4037del (p.Lys1344ThrfsTer?)
n.3182_3188del
c.*2932_*2938del (n.*2932_*2938del)
n.2779_2785del
n.3763_3769del
c.*1842_*1848del (n.*1842_*1848del)
c.2492_2498del (p.Lys831ThrfsTer?)
c.2495_2501del (p.Lys832ThrfsTer?)
n.4846_4852del
c.4028_4034del (p.Lys1343ThrfsTer?)
c.3989_3995del (p.Lys1330ThrfsTer?)
c.3920_3926del (p.Lys1307ThrfsTer?)
c.3977_3983del (p.Lys1326ThrfsTer?)
c.3986_3992del (p.Lys1329ThrfsTer?)
c.3503_3509del (p.Lys1168ThrfsTer?)
c.3233_3239del (p.Lys1078ThrfsTer?)
n.3897_3903del
n.3882_3888del
n.4798_4804del
 ClinVar dbSNP
1g.5863994C>ACA338049154NPHP4c.4036G>T (p.Val1346Phe)
n.3187G>T
c.*2937G>T (n.*2937G>T)
n.2784G>T
n.3768G>T
c.*1847G>T (n.*1847G>T)
c.2497G>T (p.Val833Phe)
c.2500G>T (p.Val834Phe)
n.4851G>T
c.4033G>T (p.Val1345Phe)
c.3994G>T (p.Val1332Phe)
c.3925G>T (p.Val1309Phe)
c.3982G>T (p.Val1328Phe)
c.3991G>T (p.Val1331Phe)
c.3508G>T (p.Val1170Phe)
c.3238G>T (p.Val1080Phe)
n.3902G>T
n.3887G>T
n.4803G>T
1g.5863994C>GCA338049155NPHP4c.4036G>C (p.Val1346Leu)
n.3187G>C
c.*2937G>C (n.*2937G>C)
n.2784G>C
n.3768G>C
c.*1847G>C (n.*1847G>C)
c.2497G>C (p.Val833Leu)
c.2500G>C (p.Val834Leu)
n.4851G>C
c.4033G>C (p.Val1345Leu)
c.3994G>C (p.Val1332Leu)
c.3925G>C (p.Val1309Leu)
c.3982G>C (p.Val1328Leu)
c.3991G>C (p.Val1331Leu)
c.3508G>C (p.Val1170Leu)
c.3238G>C (p.Val1080Leu)
n.3902G>C
n.3887G>C
n.4803G>C
1g.5863994C>TCA338049157NPHP4c.4036G>A (p.Val1346Ile)
n.3187G>A
c.*2937G>A (n.*2937G>A)
n.2784G>A
n.3768G>A
c.*1847G>A (n.*1847G>A)
c.2497G>A (p.Val833Ile)
c.2500G>A (p.Val834Ile)
n.4851G>A
c.4033G>A (p.Val1345Ile)
c.3994G>A (p.Val1332Ile)
c.3925G>A (p.Val1309Ile)
c.3982G>A (p.Val1328Ile)
c.3991G>A (p.Val1331Ile)
c.3508G>A (p.Val1170Ile)
c.3238G>A (p.Val1080Ile)
n.3902G>A
n.3887G>A
n.4803G>A
 gnomAD v4
1g.5863995A>CCA415787033NPHP4c.4035T>G (p.Gly1345=)
n.3186T>G
c.*2936T>G (n.*2936T>G)
n.2783T>G
n.3767T>G
c.*1846T>G (n.*1846T>G)
c.2496T>G (p.Gly832=)
c.2499T>G (p.Gly833=)
n.4850T>G
c.4032T>G (p.Gly1344=)
c.3993T>G (p.Gly1331=)
c.3924T>G (p.Gly1308=)
c.3981T>G (p.Gly1327=)
c.3990T>G (p.Gly1330=)
c.3507T>G (p.Gly1169=)
c.3237T>G (p.Gly1079=)
n.3901T>G
n.3886T>G
n.4802T>G
1g.5863995A>GCA415787034NPHP4c.4035T>C (p.Gly1345=)
n.3186T>C
c.*2936T>C (n.*2936T>C)
n.2783T>C
n.3767T>C
c.*1846T>C (n.*1846T>C)
c.2496T>C (p.Gly832=)
c.2499T>C (p.Gly833=)
n.4850T>C
c.4032T>C (p.Gly1344=)
c.3993T>C (p.Gly1331=)
c.3924T>C (p.Gly1308=)
c.3981T>C (p.Gly1327=)
c.3990T>C (p.Gly1330=)
c.3507T>C (p.Gly1169=)
c.3237T>C (p.Gly1079=)
n.3901T>C
n.3886T>C
n.4802T>C
1g.5863995A>TCA415787035NPHP4c.4035T>A (p.Gly1345=)
n.3186T>A
c.*2936T>A (n.*2936T>A)
n.2783T>A
n.3767T>A
c.*1846T>A (n.*1846T>A)
c.2496T>A (p.Gly832=)
c.2499T>A (p.Gly833=)
n.4850T>A
c.4032T>A (p.Gly1344=)
c.3993T>A (p.Gly1331=)
c.3924T>A (p.Gly1308=)
c.3981T>A (p.Gly1327=)
c.3990T>A (p.Gly1330=)
c.3507T>A (p.Gly1169=)
c.3237T>A (p.Gly1079=)
n.3901T>A
n.3886T>A
n.4802T>A
1g.5863996C>ACA338049159NPHP4c.4034G>T (p.Gly1345Val)
n.3185G>T
c.*2935G>T (n.*2935G>T)
n.2782G>T
n.3766G>T
c.*1845G>T (n.*1845G>T)
c.2495G>T (p.Gly832Val)
c.2498G>T (p.Gly833Val)
n.4849G>T
c.4031G>T (p.Gly1344Val)
c.3992G>T (p.Gly1331Val)
c.3923G>T (p.Gly1308Val)
c.3980G>T (p.Gly1327Val)
c.3989G>T (p.Gly1330Val)
c.3506G>T (p.Gly1169Val)
c.3236G>T (p.Gly1079Val)
n.3900G>T
n.3885G>T
n.4801G>T
 gnomAD v4
1g.5863996C=CA1143414655NPHP4c.4034G= (p.Gly1345=)
n.3185G=
c.*2935G= (n.*2935G=)
n.2782G=
n.3766G=
c.*1845G= (n.*1845G=)
c.2495G= (p.Gly832=)
c.2498G= (p.Gly833=)
n.4849G=
c.4031G= (p.Gly1344=)
c.3992G= (p.Gly1331=)
c.3923G= (p.Gly1308=)
c.3980G= (p.Gly1327=)
c.3989G= (p.Gly1330=)
c.3506G= (p.Gly1169=)
c.3236G= (p.Gly1079=)
n.3900G=
n.3885G=
n.4801G=
1g.5863996C>GCA338049160NPHP4c.4034G>C (p.Gly1345Ala)
n.3185G>C
c.*2935G>C (n.*2935G>C)
n.2782G>C
n.3766G>C
c.*1845G>C (n.*1845G>C)
c.2495G>C (p.Gly832Ala)
c.2498G>C (p.Gly833Ala)
n.4849G>C
c.4031G>C (p.Gly1344Ala)
c.3992G>C (p.Gly1331Ala)
c.3923G>C (p.Gly1308Ala)
c.3980G>C (p.Gly1327Ala)
c.3989G>C (p.Gly1330Ala)
c.3506G>C (p.Gly1169Ala)
c.3236G>C (p.Gly1079Ala)
n.3900G>C
n.3885G>C
n.4801G>C
1g.5863996C>TCA553371NPHP4c.4034G>A (p.Gly1345Asp)
n.3185G>A
c.*2935G>A (n.*2935G>A)
n.2782G>A
n.3766G>A
c.*1845G>A (n.*1845G>A)
c.2495G>A (p.Gly832Asp)
c.2498G>A (p.Gly833Asp)
n.4849G>A
c.4031G>A (p.Gly1344Asp)
c.3992G>A (p.Gly1331Asp)
c.3923G>A (p.Gly1308Asp)
c.3980G>A (p.Gly1327Asp)
c.3989G>A (p.Gly1330Asp)
c.3506G>A (p.Gly1169Asp)
c.3236G>A (p.Gly1079Asp)
n.3900G>A
n.3885G>A
n.4801G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5863997C>ACA338049162NPHP4c.4033G>T (p.Gly1345Cys)
n.3184G>T
c.*2934G>T (n.*2934G>T)
n.2781G>T
n.3765G>T
c.*1844G>T (n.*1844G>T)
c.2494G>T (p.Gly832Cys)
c.2497G>T (p.Gly833Cys)
n.4848G>T
c.4030G>T (p.Gly1344Cys)
c.3991G>T (p.Gly1331Cys)
c.3922G>T (p.Gly1308Cys)
c.3979G>T (p.Gly1327Cys)
c.3988G>T (p.Gly1330Cys)
c.3505G>T (p.Gly1169Cys)
c.3235G>T (p.Gly1079Cys)
n.3899G>T
n.3884G>T
n.4800G>T
 gnomAD v4
1g.5863997C=CA1151209266NPHP4c.4033G= (p.Gly1345=)
n.3184G=
c.*2934G= (n.*2934G=)
n.2781G=
n.3765G=
c.*1844G= (n.*1844G=)
c.2494G= (p.Gly832=)
c.2497G= (p.Gly833=)
n.4848G=
c.4030G= (p.Gly1344=)
c.3991G= (p.Gly1331=)
c.3922G= (p.Gly1308=)
c.3979G= (p.Gly1327=)
c.3988G= (p.Gly1330=)
c.3505G= (p.Gly1169=)
c.3235G= (p.Gly1079=)
n.3899G=
n.3884G=
n.4800G=
1g.5863997C>GCA338049164NPHP4c.4033G>C (p.Gly1345Arg)
n.3184G>C
c.*2934G>C (n.*2934G>C)
n.2781G>C
n.3765G>C
c.*1844G>C (n.*1844G>C)
c.2494G>C (p.Gly832Arg)
c.2497G>C (p.Gly833Arg)
n.4848G>C
c.4030G>C (p.Gly1344Arg)
c.3991G>C (p.Gly1331Arg)
c.3922G>C (p.Gly1308Arg)
c.3979G>C (p.Gly1327Arg)
c.3988G>C (p.Gly1330Arg)
c.3505G>C (p.Gly1169Arg)
c.3235G>C (p.Gly1079Arg)
n.3899G>C
n.3884G>C
n.4800G>C
1g.5863997C>TCA338049165NPHP4c.4033G>A (p.Gly1345Ser)
n.3184G>A
c.*2934G>A (n.*2934G>A)
n.2781G>A
n.3765G>A
c.*1844G>A (n.*1844G>A)
c.2494G>A (p.Gly832Ser)
c.2497G>A (p.Gly833Ser)
n.4848G>A
c.4030G>A (p.Gly1344Ser)
c.3991G>A (p.Gly1331Ser)
c.3922G>A (p.Gly1308Ser)
c.3979G>A (p.Gly1327Ser)
c.3988G>A (p.Gly1330Ser)
c.3505G>A (p.Gly1169Ser)
c.3235G>A (p.Gly1079Ser)
n.3899G>A
n.3884G>A
n.4800G>A
 dbSNP gnomAD v2 gnomAD v4
1g.5863998C>ACA338049167NPHP4c.4032G>T (p.Lys1344Asn)
n.3183G>T
c.*2933G>T (n.*2933G>T)
n.2780G>T
n.3764G>T
c.*1843G>T (n.*1843G>T)
c.2493G>T (p.Lys831Asn)
c.2496G>T (p.Lys832Asn)
n.4847G>T
c.4029G>T (p.Lys1343Asn)
c.3990G>T (p.Lys1330Asn)
c.3921G>T (p.Lys1307Asn)
c.3978G>T (p.Lys1326Asn)
c.3987G>T (p.Lys1329Asn)
c.3504G>T (p.Lys1168Asn)
c.3234G>T (p.Lys1078Asn)
n.3898G>T
n.3883G>T
n.4799G>T
1g.5863998C=CA1149134201NPHP4c.4032G= (p.Lys1344=)
n.3183G=
c.*2933G= (n.*2933G=)
n.2780G=
n.3764G=
c.*1843G= (n.*1843G=)
c.2493G= (p.Lys831=)
c.2496G= (p.Lys832=)
n.4847G=
c.4029G= (p.Lys1343=)
c.3990G= (p.Lys1330=)
c.3921G= (p.Lys1307=)
c.3978G= (p.Lys1326=)
c.3987G= (p.Lys1329=)
c.3504G= (p.Lys1168=)
c.3234G= (p.Lys1078=)
n.3898G=
n.3883G=
n.4799G=
1g.5863998C>GCA338049170NPHP4c.4032G>C (p.Lys1344Asn)
n.3183G>C
c.*2933G>C (n.*2933G>C)
n.2780G>C
n.3764G>C
c.*1843G>C (n.*1843G>C)
c.2493G>C (p.Lys831Asn)
c.2496G>C (p.Lys832Asn)
n.4847G>C
c.4029G>C (p.Lys1343Asn)
c.3990G>C (p.Lys1330Asn)
c.3921G>C (p.Lys1307Asn)
c.3978G>C (p.Lys1326Asn)
c.3987G>C (p.Lys1329Asn)
c.3504G>C (p.Lys1168Asn)
c.3234G>C (p.Lys1078Asn)
n.3898G>C
n.3883G>C
n.4799G>C
1g.5863998C>TCA553372NPHP4c.4032G>A (p.Lys1344=)
n.3183G>A
c.*2933G>A (n.*2933G>A)
n.2780G>A
n.3764G>A
c.*1843G>A (n.*1843G>A)
c.2493G>A (p.Lys831=)
c.2496G>A (p.Lys832=)
n.4847G>A
c.4029G>A (p.Lys1343=)
c.3990G>A (p.Lys1330=)
c.3921G>A (p.Lys1307=)
c.3978G>A (p.Lys1326=)
c.3987G>A (p.Lys1329=)
c.3504G>A (p.Lys1168=)
c.3234G>A (p.Lys1078=)
n.3898G>A
n.3883G>A
n.4799G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.5863999T>ACA338049173NPHP4c.4031A>T (p.Lys1344Met)
n.3182A>T
c.*2932A>T (n.*2932A>T)
n.2779A>T
n.3763A>T
c.*1842A>T (n.*1842A>T)
c.2492A>T (p.Lys831Met)
c.2495A>T (p.Lys832Met)
n.4846A>T
c.4028A>T (p.Lys1343Met)
c.3989A>T (p.Lys1330Met)
c.3920A>T (p.Lys1307Met)
c.3977A>T (p.Lys1326Met)
c.3986A>T (p.Lys1329Met)
c.3503A>T (p.Lys1168Met)
c.3233A>T (p.Lys1078Met)
n.3897A>T
n.3882A>T
n.4798A>T
1g.5863999T>CCA338049176NPHP4c.4031A>G (p.Lys1344Arg)
n.3182A>G
c.*2932A>G (n.*2932A>G)
n.2779A>G
n.3763A>G
c.*1842A>G (n.*1842A>G)
c.2492A>G (p.Lys831Arg)
c.2495A>G (p.Lys832Arg)
n.4846A>G
c.4028A>G (p.Lys1343Arg)
c.3989A>G (p.Lys1330Arg)
c.3920A>G (p.Lys1307Arg)
c.3977A>G (p.Lys1326Arg)
c.3986A>G (p.Lys1329Arg)
c.3503A>G (p.Lys1168Arg)
c.3233A>G (p.Lys1078Arg)
n.3897A>G
n.3882A>G
n.4798A>G
1g.5863999T>GCA338049175NPHP4c.4031A>C (p.Lys1344Thr)
n.3182A>C
c.*2932A>C (n.*2932A>C)
n.2779A>C
n.3763A>C
c.*1842A>C (n.*1842A>C)
c.2492A>C (p.Lys831Thr)
c.2495A>C (p.Lys832Thr)
n.4846A>C
c.4028A>C (p.Lys1343Thr)
c.3989A>C (p.Lys1330Thr)
c.3920A>C (p.Lys1307Thr)
c.3977A>C (p.Lys1326Thr)
c.3986A>C (p.Lys1329Thr)
c.3503A>C (p.Lys1168Thr)
c.3233A>C (p.Lys1078Thr)
n.3897A>C
n.3882A>C
n.4798A>C
1g.5864000T>ACA338049177NPHP4c.4030A>T (p.Lys1344Ter)
n.3181A>T
c.*2931A>T (n.*2931A>T)
n.2778A>T
n.3762A>T
c.*1841A>T (n.*1841A>T)
c.2491A>T (p.Lys831Ter)
c.2494A>T (p.Lys832Ter)
n.4845A>T
c.4027A>T (p.Lys1343Ter)
c.3988A>T (p.Lys1330Ter)
c.3919A>T (p.Lys1307Ter)
c.3976A>T (p.Lys1326Ter)
c.3985A>T (p.Lys1329Ter)
c.3502A>T (p.Lys1168Ter)
c.3232A>T (p.Lys1078Ter)
n.3896A>T
n.3881A>T
n.4797A>T
1g.5864000T>CCA338049178NPHP4c.4030A>G (p.Lys1344Glu)
n.3181A>G
c.*2931A>G (n.*2931A>G)
n.2778A>G
n.3762A>G
c.*1841A>G (n.*1841A>G)
c.2491A>G (p.Lys831Glu)
c.2494A>G (p.Lys832Glu)
n.4845A>G
c.4027A>G (p.Lys1343Glu)
c.3988A>G (p.Lys1330Glu)
c.3919A>G (p.Lys1307Glu)
c.3976A>G (p.Lys1326Glu)
c.3985A>G (p.Lys1329Glu)
c.3502A>G (p.Lys1168Glu)
c.3232A>G (p.Lys1078Glu)
n.3896A>G
n.3881A>G
n.4797A>G
1g.5864000T>GCA338049179NPHP4c.4030A>C (p.Lys1344Gln)
n.3181A>C
c.*2931A>C (n.*2931A>C)
n.2778A>C
n.3762A>C
c.*1841A>C (n.*1841A>C)
c.2491A>C (p.Lys831Gln)
c.2494A>C (p.Lys832Gln)
n.4845A>C
c.4027A>C (p.Lys1343Gln)
c.3988A>C (p.Lys1330Gln)
c.3919A>C (p.Lys1307Gln)
c.3976A>C (p.Lys1326Gln)
c.3985A>C (p.Lys1329Gln)
c.3502A>C (p.Lys1168Gln)
c.3232A>C (p.Lys1078Gln)
n.3896A>C
n.3881A>C
n.4797A>C
1g.5864001C>ACA415787038NPHP4c.4029G>T (p.Gly1343=)
n.3180G>T
c.*2930G>T (n.*2930G>T)
n.2777G>T
n.3761G>T
c.*1840G>T (n.*1840G>T)
c.2490G>T (p.Gly830=)
c.2493G>T (p.Gly831=)
n.4844G>T
c.4026G>T (p.Gly1342=)
c.3987G>T (p.Gly1329=)
c.3918G>T (p.Gly1306=)
c.3975G>T (p.Gly1325=)
c.3984G>T (p.Gly1328=)
c.3501G>T (p.Gly1167=)
c.3231G>T (p.Gly1077=)
n.3895G>T
n.3880G>T
n.4796G>T
1g.5864001C>GCA415787036NPHP4c.4029G>C (p.Gly1343=)
n.3180G>C
c.*2930G>C (n.*2930G>C)
n.2777G>C
n.3761G>C
c.*1840G>C (n.*1840G>C)
c.2490G>C (p.Gly830=)
c.2493G>C (p.Gly831=)
n.4844G>C
c.4026G>C (p.Gly1342=)
c.3987G>C (p.Gly1329=)
c.3918G>C (p.Gly1306=)
c.3975G>C (p.Gly1325=)
c.3984G>C (p.Gly1328=)
c.3501G>C (p.Gly1167=)
c.3231G>C (p.Gly1077=)
n.3895G>C
n.3880G>C
n.4796G>C
 gnomAD v4
1g.5864001C>TCA415787037NPHP4c.4029G>A (p.Gly1343=)
n.3180G>A
c.*2930G>A (n.*2930G>A)
n.2777G>A
n.3761G>A
c.*1840G>A (n.*1840G>A)
c.2490G>A (p.Gly830=)
c.2493G>A (p.Gly831=)
n.4844G>A
c.4026G>A (p.Gly1342=)
c.3987G>A (p.Gly1329=)
c.3918G>A (p.Gly1306=)
c.3975G>A (p.Gly1325=)
c.3984G>A (p.Gly1328=)
c.3501G>A (p.Gly1167=)
c.3231G>A (p.Gly1077=)
n.3895G>A
n.3880G>A
n.4796G>A
 gnomAD v4
1g.5864002C>ACA338049181NPHP4c.4028G>T (p.Gly1343Val)
n.3179G>T
c.*2929G>T (n.*2929G>T)
n.2776G>T
n.3760G>T
c.*1839G>T (n.*1839G>T)
c.2489G>T (p.Gly830Val)
c.2492G>T (p.Gly831Val)
n.4843G>T
c.4025G>T (p.Gly1342Val)
c.3986G>T (p.Gly1329Val)
c.3917G>T (p.Gly1306Val)
c.3974G>T (p.Gly1325Val)
c.3983G>T (p.Gly1328Val)
c.3500G>T (p.Gly1167Val)
c.3230G>T (p.Gly1077Val)
n.3894G>T
n.3879G>T
n.4795G>T
1g.5864002C=CA1151209269NPHP4c.4028G= (p.Gly1343=)
n.3179G=
c.*2929G= (n.*2929G=)
n.2776G=
n.3760G=
c.*1839G= (n.*1839G=)
c.2489G= (p.Gly830=)
c.2492G= (p.Gly831=)
n.4843G=
c.4025G= (p.Gly1342=)
c.3986G= (p.Gly1329=)
c.3917G= (p.Gly1306=)
c.3974G= (p.Gly1325=)
c.3983G= (p.Gly1328=)
c.3500G= (p.Gly1167=)
c.3230G= (p.Gly1077=)
n.3894G=
n.3879G=
n.4795G=
1g.5864002C>GCA338049183NPHP4c.4028G>C (p.Gly1343Ala)
n.3179G>C
c.*2929G>C (n.*2929G>C)
n.2776G>C
n.3760G>C
c.*1839G>C (n.*1839G>C)
c.2489G>C (p.Gly830Ala)
c.2492G>C (p.Gly831Ala)
n.4843G>C
c.4025G>C (p.Gly1342Ala)
c.3986G>C (p.Gly1329Ala)
c.3917G>C (p.Gly1306Ala)
c.3974G>C (p.Gly1325Ala)
c.3983G>C (p.Gly1328Ala)
c.3500G>C (p.Gly1167Ala)
c.3230G>C (p.Gly1077Ala)
n.3894G>C
n.3879G>C
n.4795G>C
1g.5864002C>TCA338049185NPHP4c.4028G>A (p.Gly1343Glu)
n.3179G>A
c.*2929G>A (n.*2929G>A)
n.2776G>A
n.3760G>A
c.*1839G>A (n.*1839G>A)
c.2489G>A (p.Gly830Glu)
c.2492G>A (p.Gly831Glu)
n.4843G>A
c.4025G>A (p.Gly1342Glu)
c.3986G>A (p.Gly1329Glu)
c.3917G>A (p.Gly1306Glu)
c.3974G>A (p.Gly1325Glu)
c.3983G>A (p.Gly1328Glu)
c.3500G>A (p.Gly1167Glu)
c.3230G>A (p.Gly1077Glu)
n.3894G>A
n.3879G>A
n.4795G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.5864003C>ACA338049187NPHP4c.4027G>T (p.Gly1343Trp)
n.3178G>T
c.*2928G>T (n.*2928G>T)
n.2775G>T
n.3759G>T
c.*1838G>T (n.*1838G>T)
c.2488G>T (p.Gly830Trp)
c.2491G>T (p.Gly831Trp)
n.4842G>T
c.4024G>T (p.Gly1342Trp)
c.3985G>T (p.Gly1329Trp)
c.3916G>T (p.Gly1306Trp)
c.3973G>T (p.Gly1325Trp)
c.3982G>T (p.Gly1328Trp)
c.3499G>T (p.Gly1167Trp)
c.3229G>T (p.Gly1077Trp)
n.3893G>T
n.3878G>T
n.4794G>T
1g.5864003C>GCA338049189NPHP4c.4027G>C (p.Gly1343Arg)
n.3178G>C
c.*2928G>C (n.*2928G>C)
n.2775G>C
n.3759G>C
c.*1838G>C (n.*1838G>C)
c.2488G>C (p.Gly830Arg)
c.2491G>C (p.Gly831Arg)
n.4842G>C
c.4024G>C (p.Gly1342Arg)
c.3985G>C (p.Gly1329Arg)
c.3916G>C (p.Gly1306Arg)
c.3973G>C (p.Gly1325Arg)
c.3982G>C (p.Gly1328Arg)
c.3499G>C (p.Gly1167Arg)
c.3229G>C (p.Gly1077Arg)
n.3893G>C
n.3878G>C
n.4794G>C
1g.5864003C>TCA338049190NPHP4c.4027G>A (p.Gly1343Arg)
n.3178G>A
c.*2928G>A (n.*2928G>A)
n.2775G>A
n.3759G>A
c.*1838G>A (n.*1838G>A)
c.2488G>A (p.Gly830Arg)
c.2491G>A (p.Gly831Arg)
n.4842G>A
c.4024G>A (p.Gly1342Arg)
c.3985G>A (p.Gly1329Arg)
c.3916G>A (p.Gly1306Arg)
c.3973G>A (p.Gly1325Arg)
c.3982G>A (p.Gly1328Arg)
c.3499G>A (p.Gly1167Arg)
c.3229G>A (p.Gly1077Arg)
n.3893G>A
n.3878G>A
n.4794G>A
 gnomAD v4
1g.5864004T>ACA338049192NPHP4c.4026A>T (p.Glu1342Asp)
n.3177A>T
c.*2927A>T (n.*2927A>T)
n.2774A>T
n.3758A>T
c.*1837A>T (n.*1837A>T)
c.2487A>T (p.Glu829Asp)
c.2490A>T (p.Glu830Asp)
n.4841A>T
c.4023A>T (p.Glu1341Asp)
c.3984A>T (p.Glu1328Asp)
c.3915A>T (p.Glu1305Asp)
c.3972A>T (p.Glu1324Asp)
c.3981A>T (p.Glu1327Asp)
c.3498A>T (p.Glu1166Asp)
c.3228A>T (p.Glu1076Asp)
n.3892A>T
n.3877A>T
n.4793A>T
1g.5864004T>CCA17124865NPHP4c.4026A>G (p.Glu1342=)
n.3177A>G
c.*2927A>G (n.*2927A>G)
n.2774A>G
n.3758A>G
c.*1837A>G (n.*1837A>G)
c.2487A>G (p.Glu829=)
c.2490A>G (p.Glu830=)
n.4841A>G
c.4023A>G (p.Glu1341=)
c.3984A>G (p.Glu1328=)
c.3915A>G (p.Glu1305=)
c.3972A>G (p.Glu1324=)
c.3981A>G (p.Glu1327=)
c.3498A>G (p.Glu1166=)
c.3228A>G (p.Glu1076=)
n.3892A>G
n.3877A>G
n.4793A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.5864004T>GCA338049194NPHP4c.4026A>C (p.Glu1342Asp)
n.3177A>C
c.*2927A>C (n.*2927A>C)
n.2774A>C
n.3758A>C
c.*1837A>C (n.*1837A>C)
c.2487A>C (p.Glu829Asp)
c.2490A>C (p.Glu830Asp)
n.4841A>C
c.4023A>C (p.Glu1341Asp)
c.3984A>C (p.Glu1328Asp)
c.3915A>C (p.Glu1305Asp)
c.3972A>C (p.Glu1324Asp)
c.3981A>C (p.Glu1327Asp)
c.3498A>C (p.Glu1166Asp)
c.3228A>C (p.Glu1076Asp)
n.3892A>C
n.3877A>C
n.4793A>C
1g.5864004T=CA1151209270NPHP4c.4026A= (p.Glu1342=)
n.3177A=
c.*2927A= (n.*2927A=)
n.2774A=
n.3758A=
c.*1837A= (n.*1837A=)
c.2487A= (p.Glu829=)
c.2490A= (p.Glu830=)
n.4841A=
c.4023A= (p.Glu1341=)
c.3984A= (p.Glu1328=)
c.3915A= (p.Glu1305=)
c.3972A= (p.Glu1324=)
c.3981A= (p.Glu1327=)
c.3498A= (p.Glu1166=)
c.3228A= (p.Glu1076=)
n.3892A=
n.3877A=
n.4793A=
1g.5864005T>ACA338049200NPHP4c.4025A>T (p.Glu1342Val)
n.3176A>T
c.*2926A>T (n.*2926A>T)
n.2773A>T
n.3757A>T
c.*1836A>T (n.*1836A>T)
c.2486A>T (p.Glu829Val)
c.2489A>T (p.Glu830Val)
n.4840A>T
c.4022A>T (p.Glu1341Val)
c.3983A>T (p.Glu1328Val)
c.3914A>T (p.Glu1305Val)
c.3971A>T (p.Glu1324Val)
c.3980A>T (p.Glu1327Val)
c.3497A>T (p.Glu1166Val)
c.3227A>T (p.Glu1076Val)
n.3891A>T
n.3876A>T
n.4792A>T
1g.5864005T>CCA338049199NPHP4c.4025A>G (p.Glu1342Gly)
n.3176A>G
c.*2926A>G (n.*2926A>G)
n.2773A>G
n.3757A>G
c.*1836A>G (n.*1836A>G)
c.2486A>G (p.Glu829Gly)
c.2489A>G (p.Glu830Gly)
n.4840A>G
c.4022A>G (p.Glu1341Gly)
c.3983A>G (p.Glu1328Gly)
c.3914A>G (p.Glu1305Gly)
c.3971A>G (p.Glu1324Gly)
c.3980A>G (p.Glu1327Gly)
c.3497A>G (p.Glu1166Gly)
c.3227A>G (p.Glu1076Gly)
n.3891A>G
n.3876A>G
n.4792A>G
1g.5864005T>GCA338049197NPHP4c.4025A>C (p.Glu1342Ala)
n.3176A>C
c.*2926A>C (n.*2926A>C)
n.2773A>C
n.3757A>C
c.*1836A>C (n.*1836A>C)
c.2486A>C (p.Glu829Ala)
c.2489A>C (p.Glu830Ala)
n.4840A>C
c.4022A>C (p.Glu1341Ala)
c.3983A>C (p.Glu1328Ala)
c.3914A>C (p.Glu1305Ala)
c.3971A>C (p.Glu1324Ala)
c.3980A>C (p.Glu1327Ala)
c.3497A>C (p.Glu1166Ala)
c.3227A>C (p.Glu1076Ala)
n.3891A>C
n.3876A>C
n.4792A>C
1g.5864006C>ACA553373NPHP4c.4024G>T (p.Glu1342Ter)
n.3175G>T
c.*2925G>T (n.*2925G>T)
n.2772G>T
n.3756G>T
c.*1835G>T (n.*1835G>T)
c.2485G>T (p.Glu829Ter)
c.2488G>T (p.Glu830Ter)
n.4839G>T
c.4021G>T (p.Glu1341Ter)
c.3982G>T (p.Glu1328Ter)
c.3913G>T (p.Glu1305Ter)
c.3970G>T (p.Glu1324Ter)
c.3979G>T (p.Glu1327Ter)
c.3496G>T (p.Glu1166Ter)
c.3226G>T (p.Glu1076Ter)
n.3890G>T
n.3875G>T
n.4791G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.5864006C=CA1151209272NPHP4c.4024G= (p.Glu1342=)
n.3175G=
c.*2925G= (n.*2925G=)
n.2772G=
n.3756G=
c.*1835G= (n.*1835G=)
c.2485G= (p.Glu829=)
c.2488G= (p.Glu830=)
n.4839G=
c.4021G= (p.Glu1341=)
c.3982G= (p.Glu1328=)
c.3913G= (p.Glu1305=)
c.3970G= (p.Glu1324=)
c.3979G= (p.Glu1327=)
c.3496G= (p.Glu1166=)
c.3226G= (p.Glu1076=)
n.3890G=
n.3875G=
n.4791G=
1g.5864006C>GCA338049203NPHP4c.4024G>C (p.Glu1342Gln)
n.3175G>C
c.*2925G>C (n.*2925G>C)
n.2772G>C
n.3756G>C
c.*1835G>C (n.*1835G>C)
c.2485G>C (p.Glu829Gln)
c.2488G>C (p.Glu830Gln)
n.4839G>C
c.4021G>C (p.Glu1341Gln)
c.3982G>C (p.Glu1328Gln)
c.3913G>C (p.Glu1305Gln)
c.3970G>C (p.Glu1324Gln)
c.3979G>C (p.Glu1327Gln)
c.3496G>C (p.Glu1166Gln)
c.3226G>C (p.Glu1076Gln)
n.3890G>C
n.3875G>C
n.4791G>C
1g.5864006C>TCA338049205NPHP4c.4024G>A (p.Glu1342Lys)
n.3175G>A
c.*2925G>A (n.*2925G>A)
n.2772G>A
n.3756G>A
c.*1835G>A (n.*1835G>A)
c.2485G>A (p.Glu829Lys)
c.2488G>A (p.Glu830Lys)
n.4839G>A
c.4021G>A (p.Glu1341Lys)
c.3982G>A (p.Glu1328Lys)
c.3913G>A (p.Glu1305Lys)
c.3970G>A (p.Glu1324Lys)
c.3979G>A (p.Glu1327Lys)
c.3496G>A (p.Glu1166Lys)
c.3226G>A (p.Glu1076Lys)
n.3890G>A
n.3875G>A
n.4791G>A
 ClinVar dbSNP gnomAD v4
1g.5864007G>ACA553374NPHP4c.4023C>T (p.Gly1341=)
n.3174C>T
c.*2924C>T (n.*2924C>T)
n.2771C>T
n.3755C>T
c.*1834C>T (n.*1834C>T)
c.2484C>T (p.Gly828=)
c.2487C>T (p.Gly829=)
n.4838C>T
c.4020C>T (p.Gly1340=)
c.3981C>T (p.Gly1327=)
c.3912C>T (p.Gly1304=)
c.3969C>T (p.Gly1323=)
c.3978C>T (p.Gly1326=)
c.3495C>T (p.Gly1165=)
c.3225C>T (p.Gly1075=)
n.3889C>T
n.3874C>T
n.4790C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5864007G>CCA415787039NPHP4c.4023C>G (p.Gly1341=)
n.3174C>G
c.*2924C>G (n.*2924C>G)
n.2771C>G
n.3755C>G
c.*1834C>G (n.*1834C>G)
c.2484C>G (p.Gly828=)
c.2487C>G (p.Gly829=)
n.4838C>G
c.4020C>G (p.Gly1340=)
c.3981C>G (p.Gly1327=)
c.3912C>G (p.Gly1304=)
c.3969C>G (p.Gly1323=)
c.3978C>G (p.Gly1326=)
c.3495C>G (p.Gly1165=)
c.3225C>G (p.Gly1075=)
n.3889C>G
n.3874C>G
n.4790C>G
1g.5864007G=CA1151209273NPHP4c.4023C= (p.Gly1341=)
n.3174C=
c.*2924C= (n.*2924C=)
n.2771C=
n.3755C=
c.*1834C= (n.*1834C=)
c.2484C= (p.Gly828=)
c.2487C= (p.Gly829=)
n.4838C=
c.4020C= (p.Gly1340=)
c.3981C= (p.Gly1327=)
c.3912C= (p.Gly1304=)
c.3969C= (p.Gly1323=)
c.3978C= (p.Gly1326=)
c.3495C= (p.Gly1165=)
c.3225C= (p.Gly1075=)
n.3889C=
n.3874C=
n.4790C=
1g.5864007G>TCA415787040NPHP4c.4023C>A (p.Gly1341=)
n.3174C>A
c.*2924C>A (n.*2924C>A)
n.2771C>A
n.3755C>A
c.*1834C>A (n.*1834C>A)
c.2484C>A (p.Gly828=)
c.2487C>A (p.Gly829=)
n.4838C>A
c.4020C>A (p.Gly1340=)
c.3981C>A (p.Gly1327=)
c.3912C>A (p.Gly1304=)
c.3969C>A (p.Gly1323=)
c.3978C>A (p.Gly1326=)
c.3495C>A (p.Gly1165=)
c.3225C>A (p.Gly1075=)
n.3889C>A
n.3874C>A
n.4790C>A
1g.5864008C>ACA338049208NPHP4c.4022G>T (p.Gly1341Val)
n.3173G>T
c.*2923G>T (n.*2923G>T)
n.2770G>T
n.3754G>T
c.*1833G>T (n.*1833G>T)
c.2483G>T (p.Gly828Val)
c.2486G>T (p.Gly829Val)
n.4837G>T
c.4019G>T (p.Gly1340Val)
c.3980G>T (p.Gly1327Val)
c.3911G>T (p.Gly1304Val)
c.3968G>T (p.Gly1323Val)
c.3977G>T (p.Gly1326Val)
c.3494G>T (p.Gly1165Val)
c.3224G>T (p.Gly1075Val)
n.3888G>T
n.3873G>T
n.4789G>T
 gnomAD v4
1g.5864008C=CA1151209275NPHP4c.4022G= (p.Gly1341=)
n.3173G=
c.*2923G= (n.*2923G=)
n.2770G=
n.3754G=
c.*1833G= (n.*1833G=)
c.2483G= (p.Gly828=)
c.2486G= (p.Gly829=)
n.4837G=
c.4019G= (p.Gly1340=)
c.3980G= (p.Gly1327=)
c.3911G= (p.Gly1304=)
c.3968G= (p.Gly1323=)
c.3977G= (p.Gly1326=)
c.3494G= (p.Gly1165=)
c.3224G= (p.Gly1075=)
n.3888G=
n.3873G=
n.4789G=
1g.5864008C>GCA553376NPHP4c.4022G>C (p.Gly1341Ala)
n.3173G>C
c.*2923G>C (n.*2923G>C)
n.2770G>C
n.3754G>C
c.*1833G>C (n.*1833G>C)
c.2483G>C (p.Gly828Ala)
c.2486G>C (p.Gly829Ala)
n.4837G>C
c.4019G>C (p.Gly1340Ala)
c.3980G>C (p.Gly1327Ala)
c.3911G>C (p.Gly1304Ala)
c.3968G>C (p.Gly1323Ala)
c.3977G>C (p.Gly1326Ala)
c.3494G>C (p.Gly1165Ala)
c.3224G>C (p.Gly1075Ala)
n.3888G>C
n.3873G>C
n.4789G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.5864008C>TCA338049211NPHP4c.4022G>A (p.Gly1341Asp)
n.3173G>A
c.*2923G>A (n.*2923G>A)
n.2770G>A
n.3754G>A
c.*1833G>A (n.*1833G>A)
c.2483G>A (p.Gly828Asp)
c.2486G>A (p.Gly829Asp)
n.4837G>A
c.4019G>A (p.Gly1340Asp)
c.3980G>A (p.Gly1327Asp)
c.3911G>A (p.Gly1304Asp)
c.3968G>A (p.Gly1323Asp)
c.3977G>A (p.Gly1326Asp)
c.3494G>A (p.Gly1165Asp)
c.3224G>A (p.Gly1075Asp)
n.3888G>A
n.3873G>A
n.4789G>A
1g.5864010dupCA553375NPHP4c.4022dup (p.Glu1342ArgfsTer?)
n.3173dup
c.*2923dup (n.*2923dup)
n.2770dup
n.3754dup
c.*1833dup (n.*1833dup)
c.2483dup (p.Glu829ArgfsTer?)
c.2486dup (p.Glu830ArgfsTer?)
n.4837dup
c.4019dup (p.Glu1341ArgfsTer?)
c.3980dup (p.Glu1328ArgfsTer?)
c.3911dup (p.Glu1305ArgfsTer?)
c.3968dup (p.Glu1324ArgfsTer?)
c.3977dup (p.Glu1327ArgfsTer?)
c.3494dup (p.Glu1166ArgfsTer?)
c.3224dup (p.Glu1076ArgfsTer?)
n.3888dup
n.3873dup
n.4789dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5864010delCA2695247368NPHP4c.4022del (p.Gly1341AlafsTer?)
n.3173del
c.*2923del (n.*2923del)
n.2770del
n.3754del
c.*1833del (n.*1833del)
c.2483del (p.Gly828AlafsTer?)
c.2486del (p.Gly829AlafsTer?)
n.4837del
c.4019del (p.Gly1340AlafsTer?)
c.3980del (p.Gly1327AlafsTer?)
c.3911del (p.Gly1304AlafsTer?)
c.3968del (p.Gly1323AlafsTer?)
c.3977del (p.Gly1326AlafsTer?)
c.3494del (p.Gly1165AlafsTer?)
c.3224del (p.Gly1075AlafsTer?)
n.3888del
n.3873del
n.4789del
 dbSNP
1g.5864009C>ACA338049213NPHP4c.4021G>T (p.Gly1341Cys)
n.3172G>T
c.*2922G>T (n.*2922G>T)
n.2769G>T
n.3753G>T
c.*1832G>T (n.*1832G>T)
c.2482G>T (p.Gly828Cys)
c.2485G>T (p.Gly829Cys)
n.4836G>T
c.4018G>T (p.Gly1340Cys)
c.3979G>T (p.Gly1327Cys)
c.3910G>T (p.Gly1304Cys)
c.3967G>T (p.Gly1323Cys)
c.3976G>T (p.Gly1326Cys)
c.3493G>T (p.Gly1165Cys)
c.3223G>T (p.Gly1075Cys)
n.3887G>T
n.3872G>T
n.4788G>T
1g.5864009C>GCA338049214NPHP4c.4021G>C (p.Gly1341Arg)
n.3172G>C
c.*2922G>C (n.*2922G>C)
n.2769G>C
n.3753G>C
c.*1832G>C (n.*1832G>C)
c.2482G>C (p.Gly828Arg)
c.2485G>C (p.Gly829Arg)
n.4836G>C
c.4018G>C (p.Gly1340Arg)
c.3979G>C (p.Gly1327Arg)
c.3910G>C (p.Gly1304Arg)
c.3967G>C (p.Gly1323Arg)
c.3976G>C (p.Gly1326Arg)
c.3493G>C (p.Gly1165Arg)
c.3223G>C (p.Gly1075Arg)
n.3887G>C
n.3872G>C
n.4788G>C
 gnomAD v4
1g.5864009C>TCA338049215NPHP4c.4021G>A (p.Gly1341Ser)
n.3172G>A
c.*2922G>A (n.*2922G>A)
n.2769G>A
n.3753G>A
c.*1832G>A (n.*1832G>A)
c.2482G>A (p.Gly828Ser)
c.2485G>A (p.Gly829Ser)
n.4836G>A
c.4018G>A (p.Gly1340Ser)
c.3979G>A (p.Gly1327Ser)
c.3910G>A (p.Gly1304Ser)
c.3967G>A (p.Gly1323Ser)
c.3976G>A (p.Gly1326Ser)
c.3493G>A (p.Gly1165Ser)
c.3223G>A (p.Gly1075Ser)
n.3887G>A
n.3872G>A
n.4788G>A
1g.5864010C>ACA415787041NPHP4c.4020G>T (p.Ala1340=)
n.3171G>T
c.*2921G>T (n.*2921G>T)
n.2768G>T
n.3752G>T
c.*1831G>T (n.*1831G>T)
c.2481G>T (p.Ala827=)
c.2484G>T (p.Ala828=)
n.4835G>T
c.4017G>T (p.Ala1339=)
c.3978G>T (p.Ala1326=)
c.3909G>T (p.Ala1303=)
c.3966G>T (p.Ala1322=)
c.3975G>T (p.Ala1325=)
c.3492G>T (p.Ala1164=)
c.3222G>T (p.Ala1074=)
n.3886G>T
n.3871G>T
n.4787G>T
1g.5864010C=CA1151209277NPHP4c.4020G= (p.Ala1340=)
n.3171G=
c.*2921G= (n.*2921G=)
n.2768G=
n.3752G=
c.*1831G= (n.*1831G=)
c.2481G= (p.Ala827=)
c.2484G= (p.Ala828=)
n.4835G=
c.4017G= (p.Ala1339=)
c.3978G= (p.Ala1326=)
c.3909G= (p.Ala1303=)
c.3966G= (p.Ala1322=)
c.3975G= (p.Ala1325=)
c.3492G= (p.Ala1164=)
c.3222G= (p.Ala1074=)
n.3886G=
n.3871G=
n.4787G=
1g.5864010C>GCA415787042NPHP4c.4020G>C (p.Ala1340=)
n.3171G>C
c.*2921G>C (n.*2921G>C)
n.2768G>C
n.3752G>C
c.*1831G>C (n.*1831G>C)
c.2481G>C (p.Ala827=)
c.2484G>C (p.Ala828=)
n.4835G>C
c.4017G>C (p.Ala1339=)
c.3978G>C (p.Ala1326=)
c.3909G>C (p.Ala1303=)
c.3966G>C (p.Ala1322=)
c.3975G>C (p.Ala1325=)
c.3492G>C (p.Ala1164=)
c.3222G>C (p.Ala1074=)
n.3886G>C
n.3871G>C
n.4787G>C
 dbSNP
1g.5864010C>TCA553377NPHP4c.4020G>A (p.Ala1340=)
n.3171G>A
c.*2921G>A (n.*2921G>A)
n.2768G>A
n.3752G>A
c.*1831G>A (n.*1831G>A)
c.2481G>A (p.Ala827=)
c.2484G>A (p.Ala828=)
n.4835G>A
c.4017G>A (p.Ala1339=)
c.3978G>A (p.Ala1326=)
c.3909G>A (p.Ala1303=)
c.3966G>A (p.Ala1322=)
c.3975G>A (p.Ala1325=)
c.3492G>A (p.Ala1164=)
c.3222G>A (p.Ala1074=)
n.3886G>A
n.3871G>A
n.4787G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5864011G>ACA553378NPHP4c.4019C>T (p.Ala1340Val)
n.3170C>T
c.*2920C>T (n.*2920C>T)
n.2767C>T
n.3751C>T
c.*1830C>T (n.*1830C>T)
c.2480C>T (p.Ala827Val)
c.2483C>T (p.Ala828Val)
n.4834C>T
c.4016C>T (p.Ala1339Val)
c.3977C>T (p.Ala1326Val)
c.3908C>T (p.Ala1303Val)
c.3965C>T (p.Ala1322Val)
c.3974C>T (p.Ala1325Val)
c.3491C>T (p.Ala1164Val)
c.3221C>T (p.Ala1074Val)
n.3885C>T
n.3870C>T
n.4786C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5864011G>CCA338049223NPHP4c.4019C>G (p.Ala1340Gly)
n.3170C>G
c.*2920C>G (n.*2920C>G)
n.2767C>G
n.3751C>G
c.*1830C>G (n.*1830C>G)
c.2480C>G (p.Ala827Gly)
c.2483C>G (p.Ala828Gly)
n.4834C>G
c.4016C>G (p.Ala1339Gly)
c.3977C>G (p.Ala1326Gly)
c.3908C>G (p.Ala1303Gly)
c.3965C>G (p.Ala1322Gly)
c.3974C>G (p.Ala1325Gly)
c.3491C>G (p.Ala1164Gly)
c.3221C>G (p.Ala1074Gly)
n.3885C>G
n.3870C>G
n.4786C>G
1g.5864011G=CA1143490297NPHP4c.4019C= (p.Ala1340=)
n.3170C=
c.*2920C= (n.*2920C=)
n.2767C=
n.3751C=
c.*1830C= (n.*1830C=)
c.2480C= (p.Ala827=)
c.2483C= (p.Ala828=)
n.4834C=
c.4016C= (p.Ala1339=)
c.3977C= (p.Ala1326=)
c.3908C= (p.Ala1303=)
c.3965C= (p.Ala1322=)
c.3974C= (p.Ala1325=)
c.3491C= (p.Ala1164=)
c.3221C= (p.Ala1074=)
n.3885C=
n.3870C=
n.4786C=
1g.5864011G>TCA338049218NPHP4c.4019C>A (p.Ala1340Glu)
n.3170C>A
c.*2920C>A (n.*2920C>A)
n.2767C>A
n.3751C>A
c.*1830C>A (n.*1830C>A)
c.2480C>A (p.Ala827Glu)
c.2483C>A (p.Ala828Glu)
n.4834C>A
c.4016C>A (p.Ala1339Glu)
c.3977C>A (p.Ala1326Glu)
c.3908C>A (p.Ala1303Glu)
c.3965C>A (p.Ala1322Glu)
c.3974C>A (p.Ala1325Glu)
c.3491C>A (p.Ala1164Glu)
c.3221C>A (p.Ala1074Glu)
n.3885C>A
n.3870C>A
n.4786C>A
1g.5864012C>ACA338049227NPHP4c.4018G>T (p.Ala1340Ser)
n.3169G>T
c.*2919G>T (n.*2919G>T)
n.2766G>T
n.3750G>T
c.*1829G>T (n.*1829G>T)
c.2479G>T (p.Ala827Ser)
c.2482G>T (p.Ala828Ser)
n.4833G>T
c.4015G>T (p.Ala1339Ser)
c.3976G>T (p.Ala1326Ser)
c.3907G>T (p.Ala1303Ser)
c.3964G>T (p.Ala1322Ser)
c.3973G>T (p.Ala1325Ser)
c.3490G>T (p.Ala1164Ser)
c.3220G>T (p.Ala1074Ser)
n.3884G>T
n.3869G>T
n.4785G>T
 dbSNP
1g.5864012C=CA1151209282NPHP4c.4018G= (p.Ala1340=)
n.3169G=
c.*2919G= (n.*2919G=)
n.2766G=
n.3750G=
c.*1829G= (n.*1829G=)
c.2479G= (p.Ala827=)
c.2482G= (p.Ala828=)
n.4833G=
c.4015G= (p.Ala1339=)
c.3976G= (p.Ala1326=)
c.3907G= (p.Ala1303=)
c.3964G= (p.Ala1322=)
c.3973G= (p.Ala1325=)
c.3490G= (p.Ala1164=)
c.3220G= (p.Ala1074=)
n.3884G=
n.3869G=
n.4785G=
1g.5864012C>GCA338049225NPHP4c.4018G>C (p.Ala1340Pro)
n.3169G>C
c.*2919G>C (n.*2919G>C)
n.2766G>C
n.3750G>C
c.*1829G>C (n.*1829G>C)
c.2479G>C (p.Ala827Pro)
c.2482G>C (p.Ala828Pro)
n.4833G>C
c.4015G>C (p.Ala1339Pro)
c.3976G>C (p.Ala1326Pro)
c.3907G>C (p.Ala1303Pro)
c.3964G>C (p.Ala1322Pro)
c.3973G>C (p.Ala1325Pro)
c.3490G>C (p.Ala1164Pro)
c.3220G>C (p.Ala1074Pro)
n.3884G>C
n.3869G>C
n.4785G>C
1g.5864012C>TCA17124873NPHP4c.4018G>A (p.Ala1340Thr)
n.3169G>A
c.*2919G>A (n.*2919G>A)
n.2766G>A
n.3750G>A
c.*1829G>A (n.*1829G>A)
c.2479G>A (p.Ala827Thr)
c.2482G>A (p.Ala828Thr)
n.4833G>A
c.4015G>A (p.Ala1339Thr)
c.3976G>A (p.Ala1326Thr)
c.3907G>A (p.Ala1303Thr)
c.3964G>A (p.Ala1322Thr)
c.3973G>A (p.Ala1325Thr)
c.3490G>A (p.Ala1164Thr)
c.3220G>A (p.Ala1074Thr)
n.3884G>A
n.3869G>A
n.4785G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.5864013A>CCA415787043NPHP4c.4017T>G (p.Ala1339=)
n.3168T>G
c.*2918T>G (n.*2918T>G)
n.2765T>G
n.3749T>G
c.*1828T>G (n.*1828T>G)
c.2478T>G (p.Ala826=)
c.2481T>G (p.Ala827=)
n.4832T>G
c.4014T>G (p.Ala1338=)
c.3975T>G (p.Ala1325=)
c.3906T>G (p.Ala1302=)
c.3963T>G (p.Ala1321=)
c.3972T>G (p.Ala1324=)
c.3489T>G (p.Ala1163=)
c.3219T>G (p.Ala1073=)
n.3883T>G
n.3868T>G
n.4784T>G
1g.5864013A>GCA415787045NPHP4c.4017T>C (p.Ala1339=)
n.3168T>C
c.*2918T>C (n.*2918T>C)
n.2765T>C
n.3749T>C
c.*1828T>C (n.*1828T>C)
c.2478T>C (p.Ala826=)
c.2481T>C (p.Ala827=)
n.4832T>C
c.4014T>C (p.Ala1338=)
c.3975T>C (p.Ala1325=)
c.3906T>C (p.Ala1302=)
c.3963T>C (p.Ala1321=)
c.3972T>C (p.Ala1324=)
c.3489T>C (p.Ala1163=)
c.3219T>C (p.Ala1073=)
n.3883T>C
n.3868T>C
n.4784T>C
1g.5864013A>TCA415787044NPHP4c.4017T>A (p.Ala1339=)
n.3168T>A
c.*2918T>A (n.*2918T>A)
n.2765T>A
n.3749T>A
c.*1828T>A (n.*1828T>A)
c.2478T>A (p.Ala826=)
c.2481T>A (p.Ala827=)
n.4832T>A
c.4014T>A (p.Ala1338=)
c.3975T>A (p.Ala1325=)
c.3906T>A (p.Ala1302=)
c.3963T>A (p.Ala1321=)
c.3972T>A (p.Ala1324=)
c.3489T>A (p.Ala1163=)
c.3219T>A (p.Ala1073=)
n.3883T>A
n.3868T>A
n.4784T>A
1g.5864014G>ACA338049232NPHP4c.4016C>T (p.Ala1339Val)
n.3167C>T
c.*2917C>T (n.*2917C>T)
n.2764C>T
n.3748C>T
c.*1827C>T (n.*1827C>T)
c.2477C>T (p.Ala826Val)
c.2480C>T (p.Ala827Val)
n.4831C>T
c.4013C>T (p.Ala1338Val)
c.3974C>T (p.Ala1325Val)
c.3905C>T (p.Ala1302Val)
c.3962C>T (p.Ala1321Val)
c.3971C>T (p.Ala1324Val)
c.3488C>T (p.Ala1163Val)
c.3218C>T (p.Ala1073Val)
n.3882C>T
n.3867C>T
n.4783C>T
1g.5864014G>CCA338049234NPHP4c.4016C>G (p.Ala1339Gly)
n.3167C>G
c.*2917C>G (n.*2917C>G)
n.2764C>G
n.3748C>G
c.*1827C>G (n.*1827C>G)
c.2477C>G (p.Ala826Gly)
c.2480C>G (p.Ala827Gly)
n.4831C>G
c.4013C>G (p.Ala1338Gly)
c.3974C>G (p.Ala1325Gly)
c.3905C>G (p.Ala1302Gly)
c.3962C>G (p.Ala1321Gly)
c.3971C>G (p.Ala1324Gly)
c.3488C>G (p.Ala1163Gly)
c.3218C>G (p.Ala1073Gly)
n.3882C>G
n.3867C>G
n.4783C>G
 dbSNP gnomAD v4
1g.5864014G=CA1151209285NPHP4c.4016C= (p.Ala1339=)
n.3167C=
c.*2917C= (n.*2917C=)
n.2764C=
n.3748C=
c.*1827C= (n.*1827C=)
c.2477C= (p.Ala826=)
c.2480C= (p.Ala827=)
n.4831C=
c.4013C= (p.Ala1338=)
c.3974C= (p.Ala1325=)
c.3905C= (p.Ala1302=)
c.3962C= (p.Ala1321=)
c.3971C= (p.Ala1324=)
c.3488C= (p.Ala1163=)
c.3218C= (p.Ala1073=)
n.3882C=
n.3867C=
n.4783C=
1g.5864014G>TCA338049235NPHP4c.4016C>A (p.Ala1339Asp)
n.3167C>A
c.*2917C>A (n.*2917C>A)
n.2764C>A
n.3748C>A
c.*1827C>A (n.*1827C>A)
c.2477C>A (p.Ala826Asp)
c.2480C>A (p.Ala827Asp)
n.4831C>A
c.4013C>A (p.Ala1338Asp)
c.3974C>A (p.Ala1325Asp)
c.3905C>A (p.Ala1302Asp)
c.3962C>A (p.Ala1321Asp)
c.3971C>A (p.Ala1324Asp)
c.3488C>A (p.Ala1163Asp)
c.3218C>A (p.Ala1073Asp)
n.3882C>A
n.3867C>A
n.4783C>A
1g.5864015C>ACA338049236NPHP4c.4015G>T (p.Ala1339Ser)
n.3166G>T
c.*2916G>T (n.*2916G>T)
n.2763G>T
n.3747G>T
c.*1826G>T (n.*1826G>T)
c.2476G>T (p.Ala826Ser)
c.2479G>T (p.Ala827Ser)
n.4830G>T
c.4012G>T (p.Ala1338Ser)
c.3973G>T (p.Ala1325Ser)
c.3904G>T (p.Ala1302Ser)
c.3961G>T (p.Ala1321Ser)
c.3970G>T (p.Ala1324Ser)
c.3487G>T (p.Ala1163Ser)
c.3217G>T (p.Ala1073Ser)
n.3881G>T
n.3866G>T
n.4782G>T
 dbSNP
1g.5864015C=CA1151209287NPHP4c.4015G= (p.Ala1339=)
n.3166G=
c.*2916G= (n.*2916G=)
n.2763G=
n.3747G=
c.*1826G= (n.*1826G=)
c.2476G= (p.Ala826=)
c.2479G= (p.Ala827=)
n.4830G=
c.4012G= (p.Ala1338=)
c.3973G= (p.Ala1325=)
c.3904G= (p.Ala1302=)
c.3961G= (p.Ala1321=)
c.3970G= (p.Ala1324=)
c.3487G= (p.Ala1163=)
c.3217G= (p.Ala1073=)
n.3881G=
n.3866G=
n.4782G=
1g.5864015C>GCA338049237NPHP4c.4015G>C (p.Ala1339Pro)
n.3166G>C
c.*2916G>C (n.*2916G>C)
n.2763G>C
n.3747G>C
c.*1826G>C (n.*1826G>C)
c.2476G>C (p.Ala826Pro)
c.2479G>C (p.Ala827Pro)
n.4830G>C
c.4012G>C (p.Ala1338Pro)
c.3973G>C (p.Ala1325Pro)
c.3904G>C (p.Ala1302Pro)
c.3961G>C (p.Ala1321Pro)
c.3970G>C (p.Ala1324Pro)
c.3487G>C (p.Ala1163Pro)
c.3217G>C (p.Ala1073Pro)
n.3881G>C
n.3866G>C
n.4782G>C
1g.5864015C>TCA338049239NPHP4c.4015G>A (p.Ala1339Thr)
n.3166G>A
c.*2916G>A (n.*2916G>A)
n.2763G>A
n.3747G>A
c.*1826G>A (n.*1826G>A)
c.2476G>A (p.Ala826Thr)
c.2479G>A (p.Ala827Thr)
n.4830G>A
c.4012G>A (p.Ala1338Thr)
c.3973G>A (p.Ala1325Thr)
c.3904G>A (p.Ala1302Thr)
c.3961G>A (p.Ala1321Thr)
c.3970G>A (p.Ala1324Thr)
c.3487G>A (p.Ala1163Thr)
c.3217G>A (p.Ala1073Thr)
n.3881G>A
n.3866G>A
n.4782G>A
1g.5864016C>ACA338049240NPHP4c.4014G>T (p.Leu1338Phe)
n.3165G>T
c.*2915G>T (n.*2915G>T)
n.2762G>T
n.3746G>T
c.*1825G>T (n.*1825G>T)
c.2475G>T (p.Leu825Phe)
c.2478G>T (p.Leu826Phe)
n.4829G>T
c.4011G>T (p.Leu1337Phe)
c.3972G>T (p.Leu1324Phe)
c.3903G>T (p.Leu1301Phe)
c.3960G>T (p.Leu1320Phe)
c.3969G>T (p.Leu1323Phe)
c.3486G>T (p.Leu1162Phe)
c.3216G>T (p.Leu1072Phe)
n.3880G>T
n.3865G>T
n.4781G>T
1g.5864016C>GCA338049241NPHP4c.4014G>C (p.Leu1338Phe)
n.3165G>C
c.*2915G>C (n.*2915G>C)
n.2762G>C
n.3746G>C
c.*1825G>C (n.*1825G>C)
c.2475G>C (p.Leu825Phe)
c.2478G>C (p.Leu826Phe)
n.4829G>C
c.4011G>C (p.Leu1337Phe)
c.3972G>C (p.Leu1324Phe)
c.3903G>C (p.Leu1301Phe)
c.3960G>C (p.Leu1320Phe)
c.3969G>C (p.Leu1323Phe)
c.3486G>C (p.Leu1162Phe)
c.3216G>C (p.Leu1072Phe)
n.3880G>C
n.3865G>C
n.4781G>C
1g.5864016C>TCA415787046NPHP4c.4014G>A (p.Leu1338=)
n.3165G>A
c.*2915G>A (n.*2915G>A)
n.2762G>A
n.3746G>A
c.*1825G>A (n.*1825G>A)
c.2475G>A (p.Leu825=)
c.2478G>A (p.Leu826=)
n.4829G>A
c.4011G>A (p.Leu1337=)
c.3972G>A (p.Leu1324=)
c.3903G>A (p.Leu1301=)
c.3960G>A (p.Leu1320=)
c.3969G>A (p.Leu1323=)
c.3486G>A (p.Leu1162=)
c.3216G>A (p.Leu1072=)
n.3880G>A
n.3865G>A
n.4781G>A
1g.5864017A>CCA338049243NPHP4c.4013T>G (p.Leu1338Trp)
n.3164T>G
c.*2914T>G (n.*2914T>G)
n.2761T>G
n.3745T>G
c.*1824T>G (n.*1824T>G)
c.2474T>G (p.Leu825Trp)
c.2477T>G (p.Leu826Trp)
n.4828T>G
c.4010T>G (p.Leu1337Trp)
c.3971T>G (p.Leu1324Trp)
c.3902T>G (p.Leu1301Trp)
c.3959T>G (p.Leu1320Trp)
c.3968T>G (p.Leu1323Trp)
c.3485T>G (p.Leu1162Trp)
c.3215T>G (p.Leu1072Trp)
n.3879T>G
n.3864T>G
n.4780T>G
1g.5864017A>GCA338049245NPHP4c.4013T>C (p.Leu1338Ser)
n.3164T>C
c.*2914T>C (n.*2914T>C)
n.2761T>C
n.3745T>C
c.*1824T>C (n.*1824T>C)
c.2474T>C (p.Leu825Ser)
c.2477T>C (p.Leu826Ser)
n.4828T>C
c.4010T>C (p.Leu1337Ser)
c.3971T>C (p.Leu1324Ser)
c.3902T>C (p.Leu1301Ser)
c.3959T>C (p.Leu1320Ser)
c.3968T>C (p.Leu1323Ser)
c.3485T>C (p.Leu1162Ser)
c.3215T>C (p.Leu1072Ser)
n.3879T>C
n.3864T>C
n.4780T>C
1g.5864017A>TCA338049246NPHP4c.4013T>A (p.Leu1338Ter)
n.3164T>A
c.*2914T>A (n.*2914T>A)
n.2761T>A
n.3745T>A
c.*1824T>A (n.*1824T>A)
c.2474T>A (p.Leu825Ter)
c.2477T>A (p.Leu826Ter)
n.4828T>A
c.4010T>A (p.Leu1337Ter)
c.3971T>A (p.Leu1324Ter)
c.3902T>A (p.Leu1301Ter)
c.3959T>A (p.Leu1320Ter)
c.3968T>A (p.Leu1323Ter)
c.3485T>A (p.Leu1162Ter)
c.3215T>A (p.Leu1072Ter)
n.3879T>A
n.3864T>A
n.4780T>A
1g.5864018A=CA1151209289NPHP4c.4012T= (p.Leu1338=)
n.3163T=
c.*2913T= (n.*2913T=)
n.2760T=
n.3744T=
c.*1823T= (n.*1823T=)
c.2473T= (p.Leu825=)
c.2476T= (p.Leu826=)
n.4827T=
c.4009T= (p.Leu1337=)
c.3970T= (p.Leu1324=)
c.3901T= (p.Leu1301=)
c.3958T= (p.Leu1320=)
c.3967T= (p.Leu1323=)
c.3484T= (p.Leu1162=)
c.3214T= (p.Leu1072=)
n.3878T=
n.3863T=
n.4779T=
1g.5864018A>CCA338049247NPHP4c.4012T>G (p.Leu1338Val)
n.3163T>G
c.*2913T>G (n.*2913T>G)
n.2760T>G
n.3744T>G
c.*1823T>G (n.*1823T>G)
c.2473T>G (p.Leu825Val)
c.2476T>G (p.Leu826Val)
n.4827T>G
c.4009T>G (p.Leu1337Val)
c.3970T>G (p.Leu1324Val)
c.3901T>G (p.Leu1301Val)
c.3958T>G (p.Leu1320Val)
c.3967T>G (p.Leu1323Val)
c.3484T>G (p.Leu1162Val)
c.3214T>G (p.Leu1072Val)
n.3878T>G
n.3863T>G
n.4779T>G
1g.5864018A>GCA415787047NPHP4c.4012T>C (p.Leu1338=)
n.3163T>C
c.*2913T>C (n.*2913T>C)
n.2760T>C
n.3744T>C
c.*1823T>C (n.*1823T>C)
c.2473T>C (p.Leu825=)
c.2476T>C (p.Leu826=)
n.4827T>C
c.4009T>C (p.Leu1337=)
c.3970T>C (p.Leu1324=)
c.3901T>C (p.Leu1301=)
c.3958T>C (p.Leu1320=)
c.3967T>C (p.Leu1323=)
c.3484T>C (p.Leu1162=)
c.3214T>C (p.Leu1072=)
n.3878T>C
n.3863T>C
n.4779T>C
 dbSNP
1g.5864018A>TCA338049249NPHP4c.4012T>A (p.Leu1338Met)
n.3163T>A
c.*2913T>A (n.*2913T>A)
n.2760T>A
n.3744T>A
c.*1823T>A (n.*1823T>A)
c.2473T>A (p.Leu825Met)
c.2476T>A (p.Leu826Met)
n.4827T>A
c.4009T>A (p.Leu1337Met)
c.3970T>A (p.Leu1324Met)
c.3901T>A (p.Leu1301Met)
c.3958T>A (p.Leu1320Met)
c.3967T>A (p.Leu1323Met)
c.3484T>A (p.Leu1162Met)
c.3214T>A (p.Leu1072Met)
n.3878T>A
n.3863T>A
n.4779T>A
1g.5864019C>ACA338049251NPHP4c.4011G>T (p.Met1337Ile)
n.3162G>T
c.*2912G>T (n.*2912G>T)
n.2759G>T
n.3743G>T
c.*1822G>T (n.*1822G>T)
c.2472G>T (p.Met824Ile)
c.2475G>T (p.Met825Ile)
n.4826G>T
c.4008G>T (p.Met1336Ile)
c.3969G>T (p.Met1323Ile)
c.3900G>T (p.Met1300Ile)
c.3957G>T (p.Met1319Ile)
c.3966G>T (p.Met1322Ile)
c.3483G>T (p.Met1161Ile)
c.3213G>T (p.Met1071Ile)
n.3877G>T
n.3862G>T
n.4778G>T
1g.5864019C=CA1151209291NPHP4c.4011G= (p.Met1337=)
n.3162G=
c.*2912G= (n.*2912G=)
n.2759G=
n.3743G=
c.*1822G= (n.*1822G=)
c.2472G= (p.Met824=)
c.2475G= (p.Met825=)
n.4826G=
c.4008G= (p.Met1336=)
c.3969G= (p.Met1323=)
c.3900G= (p.Met1300=)
c.3957G= (p.Met1319=)
c.3966G= (p.Met1322=)
c.3483G= (p.Met1161=)
c.3213G= (p.Met1071=)
n.3877G=
n.3862G=
n.4778G=
1g.5864019C>GCA338049254NPHP4c.4011G>C (p.Met1337Ile)
n.3162G>C
c.*2912G>C (n.*2912G>C)
n.2759G>C
n.3743G>C
c.*1822G>C (n.*1822G>C)
c.2472G>C (p.Met824Ile)
c.2475G>C (p.Met825Ile)
n.4826G>C
c.4008G>C (p.Met1336Ile)
c.3969G>C (p.Met1323Ile)
c.3900G>C (p.Met1300Ile)
c.3957G>C (p.Met1319Ile)
c.3966G>C (p.Met1322Ile)
c.3483G>C (p.Met1161Ile)
c.3213G>C (p.Met1071Ile)
n.3877G>C
n.3862G>C
n.4778G>C
1g.5864019C>TCA338049252NPHP4c.4011G>A (p.Met1337Ile)
n.3162G>A
c.*2912G>A (n.*2912G>A)
n.2759G>A
n.3743G>A
c.*1822G>A (n.*1822G>A)
c.2472G>A (p.Met824Ile)
c.2475G>A (p.Met825Ile)
n.4826G>A
c.4008G>A (p.Met1336Ile)
c.3969G>A (p.Met1323Ile)
c.3900G>A (p.Met1300Ile)
c.3957G>A (p.Met1319Ile)
c.3966G>A (p.Met1322Ile)
c.3483G>A (p.Met1161Ile)
c.3213G>A (p.Met1071Ile)
n.3877G>A
n.3862G>A
n.4778G>A
 dbSNP
1g.5864020A=CA1151209294NPHP4c.4010T= (p.Met1337=)
n.3161T=
c.*2911T= (n.*2911T=)
n.2758T=
n.3742T=
c.*1821T= (n.*1821T=)
c.2471T= (p.Met824=)
c.2474T= (p.Met825=)
n.4825T=
c.4007T= (p.Met1336=)
c.3968T= (p.Met1323=)
c.3899T= (p.Met1300=)
c.3956T= (p.Met1319=)
c.3965T= (p.Met1322=)
c.3482T= (p.Met1161=)
c.3212T= (p.Met1071=)
n.3876T=
n.3861T=
n.4777T=
1g.5864020A>CCA338049255NPHP4c.4010T>G (p.Met1337Arg)
n.3161T>G
c.*2911T>G (n.*2911T>G)
n.2758T>G
n.3742T>G
c.*1821T>G (n.*1821T>G)
c.2471T>G (p.Met824Arg)
c.2474T>G (p.Met825Arg)
n.4825T>G
c.4007T>G (p.Met1336Arg)
c.3968T>G (p.Met1323Arg)
c.3899T>G (p.Met1300Arg)
c.3956T>G (p.Met1319Arg)
c.3965T>G (p.Met1322Arg)
c.3482T>G (p.Met1161Arg)
c.3212T>G (p.Met1071Arg)
n.3876T>G
n.3861T>G
n.4777T>G
1g.5864020A>GCA338049256NPHP4c.4010T>C (p.Met1337Thr)
n.3161T>C
c.*2911T>C (n.*2911T>C)
n.2758T>C
n.3742T>C
c.*1821T>C (n.*1821T>C)
c.2471T>C (p.Met824Thr)
c.2474T>C (p.Met825Thr)
n.4825T>C
c.4007T>C (p.Met1336Thr)
c.3968T>C (p.Met1323Thr)
c.3899T>C (p.Met1300Thr)
c.3956T>C (p.Met1319Thr)
c.3965T>C (p.Met1322Thr)
c.3482T>C (p.Met1161Thr)
c.3212T>C (p.Met1071Thr)
n.3876T>C
n.3861T>C
n.4777T>C
 dbSNP gnomAD v4
1g.5864020A>TCA338049257NPHP4c.4010T>A (p.Met1337Lys)
n.3161T>A
c.*2911T>A (n.*2911T>A)
n.2758T>A
n.3742T>A
c.*1821T>A (n.*1821T>A)
c.2471T>A (p.Met824Lys)
c.2474T>A (p.Met825Lys)
n.4825T>A
c.4007T>A (p.Met1336Lys)
c.3968T>A (p.Met1323Lys)
c.3899T>A (p.Met1300Lys)
c.3956T>A (p.Met1319Lys)
c.3965T>A (p.Met1322Lys)
c.3482T>A (p.Met1161Lys)
c.3212T>A (p.Met1071Lys)
n.3876T>A
n.3861T>A
n.4777T>A
1g.5864021T>ACA338049259NPHP4c.4009A>T (p.Met1337Leu)
n.3160A>T
c.*2910A>T (n.*2910A>T)
n.2757A>T
n.3741A>T
c.*1820A>T (n.*1820A>T)
c.2470A>T (p.Met824Leu)
c.2473A>T (p.Met825Leu)
n.4824A>T
c.4006A>T (p.Met1336Leu)
c.3967A>T (p.Met1323Leu)
c.3898A>T (p.Met1300Leu)
c.3955A>T (p.Met1319Leu)
c.3964A>T (p.Met1322Leu)
c.3481A>T (p.Met1161Leu)
c.3211A>T (p.Met1071Leu)
n.3875A>T
n.3860A>T
n.4776A>T
1g.5864021T>CCA338049261NPHP4c.4009A>G (p.Met1337Val)
n.3160A>G
c.*2910A>G (n.*2910A>G)
n.2757A>G
n.3741A>G
c.*1820A>G (n.*1820A>G)
c.2470A>G (p.Met824Val)
c.2473A>G (p.Met825Val)
n.4824A>G
c.4006A>G (p.Met1336Val)
c.3967A>G (p.Met1323Val)
c.3898A>G (p.Met1300Val)
c.3955A>G (p.Met1319Val)
c.3964A>G (p.Met1322Val)
c.3481A>G (p.Met1161Val)
c.3211A>G (p.Met1071Val)
n.3875A>G
n.3860A>G
n.4776A>G
1g.5864021T>GCA338049262NPHP4c.4009A>C (p.Met1337Leu)
n.3160A>C
c.*2910A>C (n.*2910A>C)
n.2757A>C
n.3741A>C
c.*1820A>C (n.*1820A>C)
c.2470A>C (p.Met824Leu)
c.2473A>C (p.Met825Leu)
n.4824A>C
c.4006A>C (p.Met1336Leu)
c.3967A>C (p.Met1323Leu)
c.3898A>C (p.Met1300Leu)
c.3955A>C (p.Met1319Leu)
c.3964A>C (p.Met1322Leu)
c.3481A>C (p.Met1161Leu)
c.3211A>C (p.Met1071Leu)
n.3875A>C
n.3860A>C
n.4776A>C
1g.5864022G>ACA415787049NPHP4c.4008C>T (p.Ile1336=)
n.3159C>T
c.*2909C>T (n.*2909C>T)
n.2756C>T
n.3740C>T
c.*1819C>T (n.*1819C>T)
c.2469C>T (p.Ile823=)
c.2472C>T (p.Ile824=)
n.4823C>T
c.4005C>T (p.Ile1335=)
c.3966C>T (p.Ile1322=)
c.3897C>T (p.Ile1299=)
c.3954C>T (p.Ile1318=)
c.3963C>T (p.Ile1321=)
c.3480C>T (p.Ile1160=)
c.3210C>T (p.Ile1070=)
n.3874C>T
n.3859C>T
n.4775C>T
1g.5864022G>CCA338049266NPHP4c.4008C>G (p.Ile1336Met)
n.3159C>G
c.*2909C>G (n.*2909C>G)
n.2756C>G
n.3740C>G
c.*1819C>G (n.*1819C>G)
c.2469C>G (p.Ile823Met)
c.2472C>G (p.Ile824Met)
n.4823C>G
c.4005C>G (p.Ile1335Met)
c.3966C>G (p.Ile1322Met)
c.3897C>G (p.Ile1299Met)
c.3954C>G (p.Ile1318Met)
c.3963C>G (p.Ile1321Met)
c.3480C>G (p.Ile1160Met)
c.3210C>G (p.Ile1070Met)
n.3874C>G
n.3859C>G
n.4775C>G
1g.5864022G>TCA415787048NPHP4c.4008C>A (p.Ile1336=)
n.3159C>A
c.*2909C>A (n.*2909C>A)
n.2756C>A
n.3740C>A
c.*1819C>A (n.*1819C>A)
c.2469C>A (p.Ile823=)
c.2472C>A (p.Ile824=)
n.4823C>A
c.4005C>A (p.Ile1335=)
c.3966C>A (p.Ile1322=)
c.3897C>A (p.Ile1299=)
c.3954C>A (p.Ile1318=)
c.3963C>A (p.Ile1321=)
c.3480C>A (p.Ile1160=)
c.3210C>A (p.Ile1070=)
n.3874C>A
n.3859C>A
n.4775C>A
1g.5864023A>CCA338049269NPHP4c.4007T>G (p.Ile1336Ser)
n.3158T>G
c.*2908T>G (n.*2908T>G)
n.2755T>G
n.3739T>G
c.*1818T>G (n.*1818T>G)
c.2468T>G (p.Ile823Ser)
c.2471T>G (p.Ile824Ser)
n.4822T>G
c.4004T>G (p.Ile1335Ser)
c.3965T>G (p.Ile1322Ser)
c.3896T>G (p.Ile1299Ser)
c.3953T>G (p.Ile1318Ser)
c.3962T>G (p.Ile1321Ser)
c.3479T>G (p.Ile1160Ser)
c.3209T>G (p.Ile1070Ser)
n.3873T>G
n.3858T>G
n.4774T>G
1g.5864023A>GCA338049271NPHP4c.4007T>C (p.Ile1336Thr)
n.3158T>C
c.*2908T>C (n.*2908T>C)
n.2755T>C
n.3739T>C
c.*1818T>C (n.*1818T>C)
c.2468T>C (p.Ile823Thr)
c.2471T>C (p.Ile824Thr)
n.4822T>C
c.4004T>C (p.Ile1335Thr)
c.3965T>C (p.Ile1322Thr)
c.3896T>C (p.Ile1299Thr)
c.3953T>C (p.Ile1318Thr)
c.3962T>C (p.Ile1321Thr)
c.3479T>C (p.Ile1160Thr)
c.3209T>C (p.Ile1070Thr)
n.3873T>C
n.3858T>C
n.4774T>C
1g.5864023A>TCA338049273NPHP4c.4007T>A (p.Ile1336Asn)
n.3158T>A
c.*2908T>A (n.*2908T>A)
n.2755T>A
n.3739T>A
c.*1818T>A (n.*1818T>A)
c.2468T>A (p.Ile823Asn)
c.2471T>A (p.Ile824Asn)
n.4822T>A
c.4004T>A (p.Ile1335Asn)
c.3965T>A (p.Ile1322Asn)
c.3896T>A (p.Ile1299Asn)
c.3953T>A (p.Ile1318Asn)
c.3962T>A (p.Ile1321Asn)
c.3479T>A (p.Ile1160Asn)
c.3209T>A (p.Ile1070Asn)
n.3873T>A
n.3858T>A
n.4774T>A

Number of alleles fetched