Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.5863885_5863889delinsCACACCA1148867606NPHP4c.4140+1_4140+5delinsGTGTG (n.4140+1_4140+5delinsGTGTG)
n.3292_3296delinsGTGTG
c.*3041+1_*3041+5delinsGTGTG (n.*3041+1_*3041+5delinsGTGTG)
n.2889_2893delinsGTGTG
n.3872+1_3872+5delinsGTGTG
c.*1951+1_*1951+5delinsGTGTG (n.*1951+1_*1951+5delinsGTGTG)
c.2601+1_2601+5delinsGTGTG (n.2601+1_2601+5delinsGTGTG)
c.2604+1_2604+5delinsGTGTG (n.2604+1_2604+5delinsGTGTG)
n.4955+1_4955+5delinsGTGTG
c.4137+1_4137+5delinsGTGTG (n.4137+1_4137+5delinsGTGTG)
c.4098+1_4098+5delinsGTGTG (n.4098+1_4098+5delinsGTGTG)
c.4029+1_4029+5delinsGTGTG (n.4029+1_4029+5delinsGTGTG)
c.4086+1_4086+5delinsGTGTG (n.4086+1_4086+5delinsGTGTG)
c.4095+1_4095+5delinsGTGTG (n.4095+1_4095+5delinsGTGTG)
c.3612+1_3612+5delinsGTGTG (n.3612+1_3612+5delinsGTGTG)
c.3342+1_3342+5delinsGTGTG (n.3342+1_3342+5delinsGTGTG)
n.4006+1_4006+5delinsGTGTG
n.3991+1_3991+5delinsGTGTG
n.4907+1_4907+5delinsGTGTG
1g.5863888_5863889dupCA553345NPHP4c.4140+4_4140+5dup (n.4140+4_4140+5dup)
n.3295_3296dup
c.*3041+4_*3041+5dup (n.*3041+4_*3041+5dup)
n.2892_2893dup
n.3872+4_3872+5dup
c.*1951+4_*1951+5dup (n.*1951+4_*1951+5dup)
c.2601+4_2601+5dup (n.2601+4_2601+5dup)
c.2604+4_2604+5dup (n.2604+4_2604+5dup)
n.4955+4_4955+5dup
c.4137+4_4137+5dup (n.4137+4_4137+5dup)
c.4098+4_4098+5dup (n.4098+4_4098+5dup)
c.4029+4_4029+5dup (n.4029+4_4029+5dup)
c.4086+4_4086+5dup (n.4086+4_4086+5dup)
c.4095+4_4095+5dup (n.4095+4_4095+5dup)
c.3612+4_3612+5dup (n.3612+4_3612+5dup)
c.3342+4_3342+5dup (n.3342+4_3342+5dup)
n.4006+4_4006+5dup
n.3991+4_3991+5dup
n.4907+4_4907+5dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5863888A>CCA338048737NPHP4c.4140+2T>G (n.4140+2T>G)
n.3293T>G
c.*3041+2T>G (n.*3041+2T>G)
n.2890T>G
n.3872+2T>G
c.*1951+2T>G (n.*1951+2T>G)
c.2601+2T>G (n.2601+2T>G)
c.2604+2T>G (n.2604+2T>G)
n.4955+2T>G
c.4137+2T>G (n.4137+2T>G)
c.4098+2T>G (n.4098+2T>G)
c.4029+2T>G (n.4029+2T>G)
c.4086+2T>G (n.4086+2T>G)
c.4095+2T>G (n.4095+2T>G)
c.3612+2T>G (n.3612+2T>G)
c.3342+2T>G (n.3342+2T>G)
n.4006+2T>G
n.3991+2T>G
n.4907+2T>G
 gnomAD v4
1g.5863888A>GCA338048733NPHP4c.4140+2T>C (n.4140+2T>C)
n.3293T>C
c.*3041+2T>C (n.*3041+2T>C)
n.2890T>C
n.3872+2T>C
c.*1951+2T>C (n.*1951+2T>C)
c.2601+2T>C (n.2601+2T>C)
c.2604+2T>C (n.2604+2T>C)
n.4955+2T>C
c.4137+2T>C (n.4137+2T>C)
c.4098+2T>C (n.4098+2T>C)
c.4029+2T>C (n.4029+2T>C)
c.4086+2T>C (n.4086+2T>C)
c.4095+2T>C (n.4095+2T>C)
c.3612+2T>C (n.3612+2T>C)
c.3342+2T>C (n.3342+2T>C)
n.4006+2T>C
n.3991+2T>C
n.4907+2T>C
1g.5863888A>TCA338048735NPHP4c.4140+2T>A (n.4140+2T>A)
n.3293T>A
c.*3041+2T>A (n.*3041+2T>A)
n.2890T>A
n.3872+2T>A
c.*1951+2T>A (n.*1951+2T>A)
c.2601+2T>A (n.2601+2T>A)
c.2604+2T>A (n.2604+2T>A)
n.4955+2T>A
c.4137+2T>A (n.4137+2T>A)
c.4098+2T>A (n.4098+2T>A)
c.4029+2T>A (n.4029+2T>A)
c.4086+2T>A (n.4086+2T>A)
c.4095+2T>A (n.4095+2T>A)
c.3612+2T>A (n.3612+2T>A)
c.3342+2T>A (n.3342+2T>A)
n.4006+2T>A
n.3991+2T>A
n.4907+2T>A
1g.5863889C>ACA338048739NPHP4c.4140+1G>T (n.4140+1G>T)
n.3292G>T
c.*3041+1G>T (n.*3041+1G>T)
n.2889G>T
n.3872+1G>T
c.*1951+1G>T (n.*1951+1G>T)
c.2601+1G>T (n.2601+1G>T)
c.2604+1G>T (n.2604+1G>T)
n.4955+1G>T
c.4137+1G>T (n.4137+1G>T)
c.4098+1G>T (n.4098+1G>T)
c.4029+1G>T (n.4029+1G>T)
c.4086+1G>T (n.4086+1G>T)
c.4095+1G>T (n.4095+1G>T)
c.3612+1G>T (n.3612+1G>T)
c.3342+1G>T (n.3342+1G>T)
n.4006+1G>T
n.3991+1G>T
n.4907+1G>T
 gnomAD v4
1g.5863889C>GCA338048741NPHP4c.4140+1G>C (n.4140+1G>C)
n.3292G>C
c.*3041+1G>C (n.*3041+1G>C)
n.2889G>C
n.3872+1G>C
c.*1951+1G>C (n.*1951+1G>C)
c.2601+1G>C (n.2601+1G>C)
c.2604+1G>C (n.2604+1G>C)
n.4955+1G>C
c.4137+1G>C (n.4137+1G>C)
c.4098+1G>C (n.4098+1G>C)
c.4029+1G>C (n.4029+1G>C)
c.4086+1G>C (n.4086+1G>C)
c.4095+1G>C (n.4095+1G>C)
c.3612+1G>C (n.3612+1G>C)
c.3342+1G>C (n.3342+1G>C)
n.4006+1G>C
n.3991+1G>C
n.4907+1G>C
1g.5863889C>TCA338048743NPHP4c.4140+1G>A (n.4140+1G>A)
n.3292G>A
c.*3041+1G>A (n.*3041+1G>A)
n.2889G>A
n.3872+1G>A
c.*1951+1G>A (n.*1951+1G>A)
c.2601+1G>A (n.2601+1G>A)
c.2604+1G>A (n.2604+1G>A)
n.4955+1G>A
c.4137+1G>A (n.4137+1G>A)
c.4098+1G>A (n.4098+1G>A)
c.4029+1G>A (n.4029+1G>A)
c.4086+1G>A (n.4086+1G>A)
c.4095+1G>A (n.4095+1G>A)
c.3612+1G>A (n.3612+1G>A)
c.3342+1G>A (n.3342+1G>A)
n.4006+1G>A
n.3991+1G>A
n.4907+1G>A
 gnomAD v4
1g.5863890C>ACA338048744NPHP4c.4140G>T (p.Gln1380His)
n.3291G>T
c.*3041G>T (n.*3041G>T)
n.2888G>T
n.3872G>T
c.*1951G>T (n.*1951G>T)
c.2601G>T (p.Gln867His)
c.2604G>T (p.Gln868His)
n.4955G>T
c.4137G>T (p.Gln1379His)
c.4098G>T (p.Gln1366His)
c.4029G>T (p.Gln1343His)
c.4086G>T (p.Gln1362His)
c.4095G>T (p.Gln1365His)
c.3612G>T (p.Gln1204His)
c.3342G>T (p.Gln1114His)
n.4006G>T
n.3991G>T
n.4907G>T
1g.5863890C>GCA338048746NPHP4c.4140G>C (p.Gln1380His)
n.3291G>C
c.*3041G>C (n.*3041G>C)
n.2888G>C
n.3872G>C
c.*1951G>C (n.*1951G>C)
c.2601G>C (p.Gln867His)
c.2604G>C (p.Gln868His)
n.4955G>C
c.4137G>C (p.Gln1379His)
c.4098G>C (p.Gln1366His)
c.4029G>C (p.Gln1343His)
c.4086G>C (p.Gln1362His)
c.4095G>C (p.Gln1365His)
c.3612G>C (p.Gln1204His)
c.3342G>C (p.Gln1114His)
n.4006G>C
n.3991G>C
n.4907G>C
1g.5863890C>TCA415786944NPHP4c.4140G>A (p.Gln1380=)
n.3291G>A
c.*3041G>A (n.*3041G>A)
n.2888G>A
n.3872G>A
c.*1951G>A (n.*1951G>A)
c.2601G>A (p.Gln867=)
c.2604G>A (p.Gln868=)
n.4955G>A
c.4137G>A (p.Gln1379=)
c.4098G>A (p.Gln1366=)
c.4029G>A (p.Gln1343=)
c.4086G>A (p.Gln1362=)
c.4095G>A (p.Gln1365=)
c.3612G>A (p.Gln1204=)
c.3342G>A (p.Gln1114=)
n.4006G>A
n.3991G>A
n.4907G>A
 gnomAD v4
1g.5863891T>ACA338048748NPHP4c.4139A>T (p.Gln1380Leu)
n.3290A>T
c.*3040A>T (n.*3040A>T)
n.2887A>T
n.3871A>T
c.*1950A>T (n.*1950A>T)
c.2600A>T (p.Gln867Leu)
c.2603A>T (p.Gln868Leu)
n.4954A>T
c.4136A>T (p.Gln1379Leu)
c.4097A>T (p.Gln1366Leu)
c.4028A>T (p.Gln1343Leu)
c.4085A>T (p.Gln1362Leu)
c.4094A>T (p.Gln1365Leu)
c.3611A>T (p.Gln1204Leu)
c.3341A>T (p.Gln1114Leu)
n.4005A>T
n.3990A>T
n.4906A>T
1g.5863891T>CCA338048750NPHP4c.4139A>G (p.Gln1380Arg)
n.3290A>G
c.*3040A>G (n.*3040A>G)
n.2887A>G
n.3871A>G
c.*1950A>G (n.*1950A>G)
c.2600A>G (p.Gln867Arg)
c.2603A>G (p.Gln868Arg)
n.4954A>G
c.4136A>G (p.Gln1379Arg)
c.4097A>G (p.Gln1366Arg)
c.4028A>G (p.Gln1343Arg)
c.4085A>G (p.Gln1362Arg)
c.4094A>G (p.Gln1365Arg)
c.3611A>G (p.Gln1204Arg)
c.3341A>G (p.Gln1114Arg)
n.4005A>G
n.3990A>G
n.4906A>G
 gnomAD v4
1g.5863891T>GCA338048751NPHP4c.4139A>C (p.Gln1380Pro)
n.3290A>C
c.*3040A>C (n.*3040A>C)
n.2887A>C
n.3871A>C
c.*1950A>C (n.*1950A>C)
c.2600A>C (p.Gln867Pro)
c.2603A>C (p.Gln868Pro)
n.4954A>C
c.4136A>C (p.Gln1379Pro)
c.4097A>C (p.Gln1366Pro)
c.4028A>C (p.Gln1343Pro)
c.4085A>C (p.Gln1362Pro)
c.4094A>C (p.Gln1365Pro)
c.3611A>C (p.Gln1204Pro)
c.3341A>C (p.Gln1114Pro)
n.4005A>C
n.3990A>C
n.4906A>C
1g.5863892G>ACA338048754NPHP4c.4138C>T (p.Gln1380Ter)
n.3289C>T
c.*3039C>T (n.*3039C>T)
n.2886C>T
n.3870C>T
c.*1949C>T (n.*1949C>T)
c.2599C>T (p.Gln867Ter)
c.2602C>T (p.Gln868Ter)
n.4953C>T
c.4135C>T (p.Gln1379Ter)
c.4096C>T (p.Gln1366Ter)
c.4027C>T (p.Gln1343Ter)
c.4084C>T (p.Gln1362Ter)
c.4093C>T (p.Gln1365Ter)
c.3610C>T (p.Gln1204Ter)
c.3340C>T (p.Gln1114Ter)
n.4004C>T
n.3989C>T
n.4905C>T
 dbSNP gnomAD v4
1g.5863892G>CCA338048755NPHP4c.4138C>G (p.Gln1380Glu)
n.3289C>G
c.*3039C>G (n.*3039C>G)
n.2886C>G
n.3870C>G
c.*1949C>G (n.*1949C>G)
c.2599C>G (p.Gln867Glu)
c.2602C>G (p.Gln868Glu)
n.4953C>G
c.4135C>G (p.Gln1379Glu)
c.4096C>G (p.Gln1366Glu)
c.4027C>G (p.Gln1343Glu)
c.4084C>G (p.Gln1362Glu)
c.4093C>G (p.Gln1365Glu)
c.3610C>G (p.Gln1204Glu)
c.3340C>G (p.Gln1114Glu)
n.4004C>G
n.3989C>G
n.4905C>G
1g.5863892G=CA1151209075NPHP4c.4138C= (p.Gln1380=)
n.3289C=
c.*3039C= (n.*3039C=)
n.2886C=
n.3870C=
c.*1949C= (n.*1949C=)
c.2599C= (p.Gln867=)
c.2602C= (p.Gln868=)
n.4953C=
c.4135C= (p.Gln1379=)
c.4096C= (p.Gln1366=)
c.4027C= (p.Gln1343=)
c.4084C= (p.Gln1362=)
c.4093C= (p.Gln1365=)
c.3610C= (p.Gln1204=)
c.3340C= (p.Gln1114=)
n.4004C=
n.3989C=
n.4905C=
1g.5863892G>TCA338048757NPHP4c.4138C>A (p.Gln1380Lys)
n.3289C>A
c.*3039C>A (n.*3039C>A)
n.2886C>A
n.3870C>A
c.*1949C>A (n.*1949C>A)
c.2599C>A (p.Gln867Lys)
c.2602C>A (p.Gln868Lys)
n.4953C>A
c.4135C>A (p.Gln1379Lys)
c.4096C>A (p.Gln1366Lys)
c.4027C>A (p.Gln1343Lys)
c.4084C>A (p.Gln1362Lys)
c.4093C>A (p.Gln1365Lys)
c.3610C>A (p.Gln1204Lys)
c.3340C>A (p.Gln1114Lys)
n.4004C>A
n.3989C>A
n.4905C>A
1g.5863893G>ACA415786946NPHP4c.4137C>T (p.Phe1379=)
n.3288C>T
c.*3038C>T (n.*3038C>T)
n.2885C>T
n.3869C>T
c.*1948C>T (n.*1948C>T)
c.2598C>T (p.Phe866=)
c.2601C>T (p.Phe867=)
n.4952C>T
c.4134C>T (p.Phe1378=)
c.4095C>T (p.Phe1365=)
c.4026C>T (p.Phe1342=)
c.4083C>T (p.Phe1361=)
c.4092C>T (p.Phe1364=)
c.3609C>T (p.Phe1203=)
c.3339C>T (p.Phe1113=)
n.4003C>T
n.3988C>T
n.4904C>T
 COSMIC
1g.5863893G>CCA553347NPHP4c.4137C>G (p.Phe1379Leu)
n.3288C>G
c.*3038C>G (n.*3038C>G)
n.2885C>G
n.3869C>G
c.*1948C>G (n.*1948C>G)
c.2598C>G (p.Phe866Leu)
c.2601C>G (p.Phe867Leu)
n.4952C>G
c.4134C>G (p.Phe1378Leu)
c.4095C>G (p.Phe1365Leu)
c.4026C>G (p.Phe1342Leu)
c.4083C>G (p.Phe1361Leu)
c.4092C>G (p.Phe1364Leu)
c.3609C>G (p.Phe1203Leu)
c.3339C>G (p.Phe1113Leu)
n.4003C>G
n.3988C>G
n.4904C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.5863893G=CA1151209080NPHP4c.4137C= (p.Phe1379=)
n.3288C=
c.*3038C= (n.*3038C=)
n.2885C=
n.3869C=
c.*1948C= (n.*1948C=)
c.2598C= (p.Phe866=)
c.2601C= (p.Phe867=)
n.4952C=
c.4134C= (p.Phe1378=)
c.4095C= (p.Phe1365=)
c.4026C= (p.Phe1342=)
c.4083C= (p.Phe1361=)
c.4092C= (p.Phe1364=)
c.3609C= (p.Phe1203=)
c.3339C= (p.Phe1113=)
n.4003C=
n.3988C=
n.4904C=
1g.5863893G>TCA338048759NPHP4c.4137C>A (p.Phe1379Leu)
n.3288C>A
c.*3038C>A (n.*3038C>A)
n.2885C>A
n.3869C>A
c.*1948C>A (n.*1948C>A)
c.2598C>A (p.Phe866Leu)
c.2601C>A (p.Phe867Leu)
n.4952C>A
c.4134C>A (p.Phe1378Leu)
c.4095C>A (p.Phe1365Leu)
c.4026C>A (p.Phe1342Leu)
c.4083C>A (p.Phe1361Leu)
c.4092C>A (p.Phe1364Leu)
c.3609C>A (p.Phe1203Leu)
c.3339C>A (p.Phe1113Leu)
n.4003C>A
n.3988C>A
n.4904C>A
1g.5863894A>CCA338048761NPHP4c.4136T>G (p.Phe1379Cys)
n.3287T>G
c.*3037T>G (n.*3037T>G)
n.2884T>G
n.3868T>G
c.*1947T>G (n.*1947T>G)
c.2597T>G (p.Phe866Cys)
c.2600T>G (p.Phe867Cys)
n.4951T>G
c.4133T>G (p.Phe1378Cys)
c.4094T>G (p.Phe1365Cys)
c.4025T>G (p.Phe1342Cys)
c.4082T>G (p.Phe1361Cys)
c.4091T>G (p.Phe1364Cys)
c.3608T>G (p.Phe1203Cys)
c.3338T>G (p.Phe1113Cys)
n.4002T>G
n.3987T>G
n.4903T>G
1g.5863894A>GCA338048765NPHP4c.4136T>C (p.Phe1379Ser)
n.3287T>C
c.*3037T>C (n.*3037T>C)
n.2884T>C
n.3868T>C
c.*1947T>C (n.*1947T>C)
c.2597T>C (p.Phe866Ser)
c.2600T>C (p.Phe867Ser)
n.4951T>C
c.4133T>C (p.Phe1378Ser)
c.4094T>C (p.Phe1365Ser)
c.4025T>C (p.Phe1342Ser)
c.4082T>C (p.Phe1361Ser)
c.4091T>C (p.Phe1364Ser)
c.3608T>C (p.Phe1203Ser)
c.3338T>C (p.Phe1113Ser)
n.4002T>C
n.3987T>C
n.4903T>C
1g.5863894A>TCA338048763NPHP4c.4136T>A (p.Phe1379Tyr)
n.3287T>A
c.*3037T>A (n.*3037T>A)
n.2884T>A
n.3868T>A
c.*1947T>A (n.*1947T>A)
c.2597T>A (p.Phe866Tyr)
c.2600T>A (p.Phe867Tyr)
n.4951T>A
c.4133T>A (p.Phe1378Tyr)
c.4094T>A (p.Phe1365Tyr)
c.4025T>A (p.Phe1342Tyr)
c.4082T>A (p.Phe1361Tyr)
c.4091T>A (p.Phe1364Tyr)
c.3608T>A (p.Phe1203Tyr)
c.3338T>A (p.Phe1113Tyr)
n.4002T>A
n.3987T>A
n.4903T>A
1g.5863895delCA2642901775NPHP4c.4136del (p.Phe1379SerfsTer27)
n.3287del
c.*3037del (n.*3037del)
n.2884del
n.3868del
c.*1947del (n.*1947del)
c.2597del (p.Phe866SerfsTer27)
c.2600del (p.Phe867SerfsTer27)
n.4951del
c.4133del (p.Phe1378SerfsTer27)
c.4094del (p.Phe1365SerfsTer27)
c.4025del (p.Phe1342SerfsTer27)
c.4082del (p.Phe1361SerfsTer27)
c.4091del (p.Phe1364SerfsTer27)
c.3608del (p.Phe1203SerfsTer27)
c.3338del (p.Phe1113SerfsTer27)
n.4002del
n.3987del
n.4903del
 gnomAD v4
1g.5863895A>CCA338048766NPHP4c.4135T>G (p.Phe1379Val)
n.3286T>G
c.*3036T>G (n.*3036T>G)
n.2883T>G
n.3867T>G
c.*1946T>G (n.*1946T>G)
c.2596T>G (p.Phe866Val)
c.2599T>G (p.Phe867Val)
n.4950T>G
c.4132T>G (p.Phe1378Val)
c.4093T>G (p.Phe1365Val)
c.4024T>G (p.Phe1342Val)
c.4081T>G (p.Phe1361Val)
c.4090T>G (p.Phe1364Val)
c.3607T>G (p.Phe1203Val)
c.3337T>G (p.Phe1113Val)
n.4001T>G
n.3986T>G
n.4902T>G
1g.5863895A>GCA338048767NPHP4c.4135T>C (p.Phe1379Leu)
n.3286T>C
c.*3036T>C (n.*3036T>C)
n.2883T>C
n.3867T>C
c.*1946T>C (n.*1946T>C)
c.2596T>C (p.Phe866Leu)
c.2599T>C (p.Phe867Leu)
n.4950T>C
c.4132T>C (p.Phe1378Leu)
c.4093T>C (p.Phe1365Leu)
c.4024T>C (p.Phe1342Leu)
c.4081T>C (p.Phe1361Leu)
c.4090T>C (p.Phe1364Leu)
c.3607T>C (p.Phe1203Leu)
c.3337T>C (p.Phe1113Leu)
n.4001T>C
n.3986T>C
n.4902T>C
1g.5863895A>TCA338048769NPHP4c.4135T>A (p.Phe1379Ile)
n.3286T>A
c.*3036T>A (n.*3036T>A)
n.2883T>A
n.3867T>A
c.*1946T>A (n.*1946T>A)
c.2596T>A (p.Phe866Ile)
c.2599T>A (p.Phe867Ile)
n.4950T>A
c.4132T>A (p.Phe1378Ile)
c.4093T>A (p.Phe1365Ile)
c.4024T>A (p.Phe1342Ile)
c.4081T>A (p.Phe1361Ile)
c.4090T>A (p.Phe1364Ile)
c.3607T>A (p.Phe1203Ile)
c.3337T>A (p.Phe1113Ile)
n.4001T>A
n.3986T>A
n.4902T>A
1g.5863896G>ACA415786947NPHP4c.4134C>T (p.Ser1378=)
n.3285C>T
c.*3035C>T (n.*3035C>T)
n.2882C>T
n.3866C>T
c.*1945C>T (n.*1945C>T)
c.2595C>T (p.Ser865=)
c.2598C>T (p.Ser866=)
n.4949C>T
c.4131C>T (p.Ser1377=)
c.4092C>T (p.Ser1364=)
c.4023C>T (p.Ser1341=)
c.4080C>T (p.Ser1360=)
c.4089C>T (p.Ser1363=)
c.3606C>T (p.Ser1202=)
c.3336C>T (p.Ser1112=)
n.4000C>T
n.3985C>T
n.4901C>T
 COSMIC
1g.5863896G>CCA415786948NPHP4c.4134C>G (p.Ser1378=)
n.3285C>G
c.*3035C>G (n.*3035C>G)
n.2882C>G
n.3866C>G
c.*1945C>G (n.*1945C>G)
c.2595C>G (p.Ser865=)
c.2598C>G (p.Ser866=)
n.4949C>G
c.4131C>G (p.Ser1377=)
c.4092C>G (p.Ser1364=)
c.4023C>G (p.Ser1341=)
c.4080C>G (p.Ser1360=)
c.4089C>G (p.Ser1363=)
c.3606C>G (p.Ser1202=)
c.3336C>G (p.Ser1112=)
n.4000C>G
n.3985C>G
n.4901C>G
1g.5863896G>TCA415786949NPHP4c.4134C>A (p.Ser1378=)
n.3285C>A
c.*3035C>A (n.*3035C>A)
n.2882C>A
n.3866C>A
c.*1945C>A (n.*1945C>A)
c.2595C>A (p.Ser865=)
c.2598C>A (p.Ser866=)
n.4949C>A
c.4131C>A (p.Ser1377=)
c.4092C>A (p.Ser1364=)
c.4023C>A (p.Ser1341=)
c.4080C>A (p.Ser1360=)
c.4089C>A (p.Ser1363=)
c.3606C>A (p.Ser1202=)
c.3336C>A (p.Ser1112=)
n.4000C>A
n.3985C>A
n.4901C>A
1g.5863897G>ACA338048770NPHP4c.4133C>T (p.Ser1378Phe)
n.3284C>T
c.*3034C>T (n.*3034C>T)
n.2881C>T
n.3865C>T
c.*1944C>T (n.*1944C>T)
c.2594C>T (p.Ser865Phe)
c.2597C>T (p.Ser866Phe)
n.4948C>T
c.4130C>T (p.Ser1377Phe)
c.4091C>T (p.Ser1364Phe)
c.4022C>T (p.Ser1341Phe)
c.4079C>T (p.Ser1360Phe)
c.4088C>T (p.Ser1363Phe)
c.3605C>T (p.Ser1202Phe)
c.3335C>T (p.Ser1112Phe)
n.3999C>T
n.3984C>T
n.4900C>T
 gnomAD v4 COSMIC
1g.5863897G>CCA338048772NPHP4c.4133C>G (p.Ser1378Cys)
n.3284C>G
c.*3034C>G (n.*3034C>G)
n.2881C>G
n.3865C>G
c.*1944C>G (n.*1944C>G)
c.2594C>G (p.Ser865Cys)
c.2597C>G (p.Ser866Cys)
n.4948C>G
c.4130C>G (p.Ser1377Cys)
c.4091C>G (p.Ser1364Cys)
c.4022C>G (p.Ser1341Cys)
c.4079C>G (p.Ser1360Cys)
c.4088C>G (p.Ser1363Cys)
c.3605C>G (p.Ser1202Cys)
c.3335C>G (p.Ser1112Cys)
n.3999C>G
n.3984C>G
n.4900C>G
1g.5863897G>TCA338048773NPHP4c.4133C>A (p.Ser1378Tyr)
n.3284C>A
c.*3034C>A (n.*3034C>A)
n.2881C>A
n.3865C>A
c.*1944C>A (n.*1944C>A)
c.2594C>A (p.Ser865Tyr)
c.2597C>A (p.Ser866Tyr)
n.4948C>A
c.4130C>A (p.Ser1377Tyr)
c.4091C>A (p.Ser1364Tyr)
c.4022C>A (p.Ser1341Tyr)
c.4079C>A (p.Ser1360Tyr)
c.4088C>A (p.Ser1363Tyr)
c.3605C>A (p.Ser1202Tyr)
c.3335C>A (p.Ser1112Tyr)
n.3999C>A
n.3984C>A
n.4900C>A
 gnomAD v4
1g.5863898A=CA1143781744NPHP4c.4132T= (p.Ser1378=)
n.3283T=
c.*3033T= (n.*3033T=)
n.2880T=
n.3864T=
c.*1943T= (n.*1943T=)
c.2593T= (p.Ser865=)
c.2596T= (p.Ser866=)
n.4947T=
c.4129T= (p.Ser1377=)
c.4090T= (p.Ser1364=)
c.4021T= (p.Ser1341=)
c.4078T= (p.Ser1360=)
c.4087T= (p.Ser1363=)
c.3604T= (p.Ser1202=)
c.3334T= (p.Ser1112=)
n.3998T=
n.3983T=
n.4899T=
1g.5863898A>CCA17124822NPHP4c.4132T>G (p.Ser1378Ala)
n.3283T>G
c.*3033T>G (n.*3033T>G)
n.2880T>G
n.3864T>G
c.*1943T>G (n.*1943T>G)
c.2593T>G (p.Ser865Ala)
c.2596T>G (p.Ser866Ala)
n.4947T>G
c.4129T>G (p.Ser1377Ala)
c.4090T>G (p.Ser1364Ala)
c.4021T>G (p.Ser1341Ala)
c.4078T>G (p.Ser1360Ala)
c.4087T>G (p.Ser1363Ala)
c.3604T>G (p.Ser1202Ala)
c.3334T>G (p.Ser1112Ala)
n.3998T>G
n.3983T>G
n.4899T>G
 dbSNP
1g.5863898A>GCA338048776NPHP4c.4132T>C (p.Ser1378Pro)
n.3283T>C
c.*3033T>C (n.*3033T>C)
n.2880T>C
n.3864T>C
c.*1943T>C (n.*1943T>C)
c.2593T>C (p.Ser865Pro)
c.2596T>C (p.Ser866Pro)
n.4947T>C
c.4129T>C (p.Ser1377Pro)
c.4090T>C (p.Ser1364Pro)
c.4021T>C (p.Ser1341Pro)
c.4078T>C (p.Ser1360Pro)
c.4087T>C (p.Ser1363Pro)
c.3604T>C (p.Ser1202Pro)
c.3334T>C (p.Ser1112Pro)
n.3998T>C
n.3983T>C
n.4899T>C
 dbSNP gnomAD v3 gnomAD v4
1g.5863898A>TCA338048778NPHP4c.4132T>A (p.Ser1378Thr)
n.3283T>A
c.*3033T>A (n.*3033T>A)
n.2880T>A
n.3864T>A
c.*1943T>A (n.*1943T>A)
c.2593T>A (p.Ser865Thr)
c.2596T>A (p.Ser866Thr)
n.4947T>A
c.4129T>A (p.Ser1377Thr)
c.4090T>A (p.Ser1364Thr)
c.4021T>A (p.Ser1341Thr)
c.4078T>A (p.Ser1360Thr)
c.4087T>A (p.Ser1363Thr)
c.3604T>A (p.Ser1202Thr)
c.3334T>A (p.Ser1112Thr)
n.3998T>A
n.3983T>A
n.4899T>A
 gnomAD v4 COSMIC
1g.5863899G>ACA415786950NPHP4c.4131C>T (p.Asp1377=)
n.3282C>T
c.*3032C>T (n.*3032C>T)
n.2879C>T
n.3863C>T
c.*1942C>T (n.*1942C>T)
c.2592C>T (p.Asp864=)
c.2595C>T (p.Asp865=)
n.4946C>T
c.4128C>T (p.Asp1376=)
c.4089C>T (p.Asp1363=)
c.4020C>T (p.Asp1340=)
c.4077C>T (p.Asp1359=)
c.4086C>T (p.Asp1362=)
c.3603C>T (p.Asp1201=)
c.3333C>T (p.Asp1111=)
n.3997C>T
n.3982C>T
n.4898C>T
1g.5863899G>CCA338048779NPHP4c.4131C>G (p.Asp1377Glu)
n.3282C>G
c.*3032C>G (n.*3032C>G)
n.2879C>G
n.3863C>G
c.*1942C>G (n.*1942C>G)
c.2592C>G (p.Asp864Glu)
c.2595C>G (p.Asp865Glu)
n.4946C>G
c.4128C>G (p.Asp1376Glu)
c.4089C>G (p.Asp1363Glu)
c.4020C>G (p.Asp1340Glu)
c.4077C>G (p.Asp1359Glu)
c.4086C>G (p.Asp1362Glu)
c.3603C>G (p.Asp1201Glu)
c.3333C>G (p.Asp1111Glu)
n.3997C>G
n.3982C>G
n.4898C>G
 gnomAD v4
1g.5863899G>TCA338048780NPHP4c.4131C>A (p.Asp1377Glu)
n.3282C>A
c.*3032C>A (n.*3032C>A)
n.2879C>A
n.3863C>A
c.*1942C>A (n.*1942C>A)
c.2592C>A (p.Asp864Glu)
c.2595C>A (p.Asp865Glu)
n.4946C>A
c.4128C>A (p.Asp1376Glu)
c.4089C>A (p.Asp1363Glu)
c.4020C>A (p.Asp1340Glu)
c.4077C>A (p.Asp1359Glu)
c.4086C>A (p.Asp1362Glu)
c.3603C>A (p.Asp1201Glu)
c.3333C>A (p.Asp1111Glu)
n.3997C>A
n.3982C>A
n.4898C>A
1g.5863900T>ACA338048783NPHP4c.4130A>T (p.Asp1377Val)
n.3281A>T
c.*3031A>T (n.*3031A>T)
n.2878A>T
n.3862A>T
c.*1941A>T (n.*1941A>T)
c.2591A>T (p.Asp864Val)
c.2594A>T (p.Asp865Val)
n.4945A>T
c.4127A>T (p.Asp1376Val)
c.4088A>T (p.Asp1363Val)
c.4019A>T (p.Asp1340Val)
c.4076A>T (p.Asp1359Val)
c.4085A>T (p.Asp1362Val)
c.3602A>T (p.Asp1201Val)
c.3332A>T (p.Asp1111Val)
n.3996A>T
n.3981A>T
n.4897A>T
 gnomAD v4
1g.5863900T>CCA338048785NPHP4c.4130A>G (p.Asp1377Gly)
n.3281A>G
c.*3031A>G (n.*3031A>G)
n.2878A>G
n.3862A>G
c.*1941A>G (n.*1941A>G)
c.2591A>G (p.Asp864Gly)
c.2594A>G (p.Asp865Gly)
n.4945A>G
c.4127A>G (p.Asp1376Gly)
c.4088A>G (p.Asp1363Gly)
c.4019A>G (p.Asp1340Gly)
c.4076A>G (p.Asp1359Gly)
c.4085A>G (p.Asp1362Gly)
c.3602A>G (p.Asp1201Gly)
c.3332A>G (p.Asp1111Gly)
n.3996A>G
n.3981A>G
n.4897A>G
1g.5863900T>GCA338048786NPHP4c.4130A>C (p.Asp1377Ala)
n.3281A>C
c.*3031A>C (n.*3031A>C)
n.2878A>C
n.3862A>C
c.*1941A>C (n.*1941A>C)
c.2591A>C (p.Asp864Ala)
c.2594A>C (p.Asp865Ala)
n.4945A>C
c.4127A>C (p.Asp1376Ala)
c.4088A>C (p.Asp1363Ala)
c.4019A>C (p.Asp1340Ala)
c.4076A>C (p.Asp1359Ala)
c.4085A>C (p.Asp1362Ala)
c.3602A>C (p.Asp1201Ala)
c.3332A>C (p.Asp1111Ala)
n.3996A>C
n.3981A>C
n.4897A>C
1g.5863901C>ACA338048787NPHP4c.4129G>T (p.Asp1377Tyr)
n.3280G>T
c.*3030G>T (n.*3030G>T)
n.2877G>T
n.3861G>T
c.*1940G>T (n.*1940G>T)
c.2590G>T (p.Asp864Tyr)
c.2593G>T (p.Asp865Tyr)
n.4944G>T
c.4126G>T (p.Asp1376Tyr)
c.4087G>T (p.Asp1363Tyr)
c.4018G>T (p.Asp1340Tyr)
c.4075G>T (p.Asp1359Tyr)
c.4084G>T (p.Asp1362Tyr)
c.3601G>T (p.Asp1201Tyr)
c.3331G>T (p.Asp1111Tyr)
n.3995G>T
n.3980G>T
n.4896G>T
 gnomAD v4
1g.5863901C>GCA338048791NPHP4c.4129G>C (p.Asp1377His)
n.3280G>C
c.*3030G>C (n.*3030G>C)
n.2877G>C
n.3861G>C
c.*1940G>C (n.*1940G>C)
c.2590G>C (p.Asp864His)
c.2593G>C (p.Asp865His)
n.4944G>C
c.4126G>C (p.Asp1376His)
c.4087G>C (p.Asp1363His)
c.4018G>C (p.Asp1340His)
c.4075G>C (p.Asp1359His)
c.4084G>C (p.Asp1362His)
c.3601G>C (p.Asp1201His)
c.3331G>C (p.Asp1111His)
n.3995G>C
n.3980G>C
n.4896G>C
1g.5863901C>TCA338048789NPHP4c.4129G>A (p.Asp1377Asn)
n.3280G>A
c.*3030G>A (n.*3030G>A)
n.2877G>A
n.3861G>A
c.*1940G>A (n.*1940G>A)
c.2590G>A (p.Asp864Asn)
c.2593G>A (p.Asp865Asn)
n.4944G>A
c.4126G>A (p.Asp1376Asn)
c.4087G>A (p.Asp1363Asn)
c.4018G>A (p.Asp1340Asn)
c.4075G>A (p.Asp1359Asn)
c.4084G>A (p.Asp1362Asn)
c.3601G>A (p.Asp1201Asn)
c.3331G>A (p.Asp1111Asn)
n.3995G>A
n.3980G>A
n.4896G>A
1g.5863902C>ACA338048793NPHP4c.4128G>T (p.Glu1376Asp)
n.3279G>T
c.*3029G>T (n.*3029G>T)
n.2876G>T
n.3860G>T
c.*1939G>T (n.*1939G>T)
c.2589G>T (p.Glu863Asp)
c.2592G>T (p.Glu864Asp)
n.4943G>T
c.4125G>T (p.Glu1375Asp)
c.4086G>T (p.Glu1362Asp)
c.4017G>T (p.Glu1339Asp)
c.4074G>T (p.Glu1358Asp)
c.4083G>T (p.Glu1361Asp)
c.3600G>T (p.Glu1200Asp)
c.3330G>T (p.Glu1110Asp)
n.3994G>T
n.3979G>T
n.4895G>T
1g.5863902C>GCA338048794NPHP4c.4128G>C (p.Glu1376Asp)
n.3279G>C
c.*3029G>C (n.*3029G>C)
n.2876G>C
n.3860G>C
c.*1939G>C (n.*1939G>C)
c.2589G>C (p.Glu863Asp)
c.2592G>C (p.Glu864Asp)
n.4943G>C
c.4125G>C (p.Glu1375Asp)
c.4086G>C (p.Glu1362Asp)
c.4017G>C (p.Glu1339Asp)
c.4074G>C (p.Glu1358Asp)
c.4083G>C (p.Glu1361Asp)
c.3600G>C (p.Glu1200Asp)
c.3330G>C (p.Glu1110Asp)
n.3994G>C
n.3979G>C
n.4895G>C
1g.5863902C>TCA415786951NPHP4c.4128G>A (p.Glu1376=)
n.3279G>A
c.*3029G>A (n.*3029G>A)
n.2876G>A
n.3860G>A
c.*1939G>A (n.*1939G>A)
c.2589G>A (p.Glu863=)
c.2592G>A (p.Glu864=)
n.4943G>A
c.4125G>A (p.Glu1375=)
c.4086G>A (p.Glu1362=)
c.4017G>A (p.Glu1339=)
c.4074G>A (p.Glu1358=)
c.4083G>A (p.Glu1361=)
c.3600G>A (p.Glu1200=)
c.3330G>A (p.Glu1110=)
n.3994G>A
n.3979G>A
n.4895G>A
1g.5863903T>ACA338048797NPHP4c.4127A>T (p.Glu1376Val)
n.3278A>T
c.*3028A>T (n.*3028A>T)
n.2875A>T
n.3859A>T
c.*1938A>T (n.*1938A>T)
c.2588A>T (p.Glu863Val)
c.2591A>T (p.Glu864Val)
n.4942A>T
c.4124A>T (p.Glu1375Val)
c.4085A>T (p.Glu1362Val)
c.4016A>T (p.Glu1339Val)
c.4073A>T (p.Glu1358Val)
c.4082A>T (p.Glu1361Val)
c.3599A>T (p.Glu1200Val)
c.3329A>T (p.Glu1110Val)
n.3993A>T
n.3978A>T
n.4894A>T
1g.5863903T>CCA553348NPHP4c.4127A>G (p.Glu1376Gly)
n.3278A>G
c.*3028A>G (n.*3028A>G)
n.2875A>G
n.3859A>G
c.*1938A>G (n.*1938A>G)
c.2588A>G (p.Glu863Gly)
c.2591A>G (p.Glu864Gly)
n.4942A>G
c.4124A>G (p.Glu1375Gly)
c.4085A>G (p.Glu1362Gly)
c.4016A>G (p.Glu1339Gly)
c.4073A>G (p.Glu1358Gly)
c.4082A>G (p.Glu1361Gly)
c.3599A>G (p.Glu1200Gly)
c.3329A>G (p.Glu1110Gly)
n.3993A>G
n.3978A>G
n.4894A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.5863903T>GCA338048799NPHP4c.4127A>C (p.Glu1376Ala)
n.3278A>C
c.*3028A>C (n.*3028A>C)
n.2875A>C
n.3859A>C
c.*1938A>C (n.*1938A>C)
c.2588A>C (p.Glu863Ala)
c.2591A>C (p.Glu864Ala)
n.4942A>C
c.4124A>C (p.Glu1375Ala)
c.4085A>C (p.Glu1362Ala)
c.4016A>C (p.Glu1339Ala)
c.4073A>C (p.Glu1358Ala)
c.4082A>C (p.Glu1361Ala)
c.3599A>C (p.Glu1200Ala)
c.3329A>C (p.Glu1110Ala)
n.3993A>C
n.3978A>C
n.4894A>C
1g.5863903T=CA1149071166NPHP4c.4127A= (p.Glu1376=)
n.3278A=
c.*3028A= (n.*3028A=)
n.2875A=
n.3859A=
c.*1938A= (n.*1938A=)
c.2588A= (p.Glu863=)
c.2591A= (p.Glu864=)
n.4942A=
c.4124A= (p.Glu1375=)
c.4085A= (p.Glu1362=)
c.4016A= (p.Glu1339=)
c.4073A= (p.Glu1358=)
c.4082A= (p.Glu1361=)
c.3599A= (p.Glu1200=)
c.3329A= (p.Glu1110=)
n.3993A=
n.3978A=
n.4894A=
1g.5863904C>ACA338048801NPHP4c.4126G>T (p.Glu1376Ter)
n.3277G>T
c.*3027G>T (n.*3027G>T)
n.2874G>T
n.3858G>T
c.*1937G>T (n.*1937G>T)
c.2587G>T (p.Glu863Ter)
c.2590G>T (p.Glu864Ter)
n.4941G>T
c.4123G>T (p.Glu1375Ter)
c.4084G>T (p.Glu1362Ter)
c.4015G>T (p.Glu1339Ter)
c.4072G>T (p.Glu1358Ter)
c.4081G>T (p.Glu1361Ter)
c.3598G>T (p.Glu1200Ter)
c.3328G>T (p.Glu1110Ter)
n.3992G>T
n.3977G>T
n.4893G>T
1g.5863904C=CA1151209087NPHP4c.4126G= (p.Glu1376=)
n.3277G=
c.*3027G= (n.*3027G=)
n.2874G=
n.3858G=
c.*1937G= (n.*1937G=)
c.2587G= (p.Glu863=)
c.2590G= (p.Glu864=)
n.4941G=
c.4123G= (p.Glu1375=)
c.4084G= (p.Glu1362=)
c.4015G= (p.Glu1339=)
c.4072G= (p.Glu1358=)
c.4081G= (p.Glu1361=)
c.3598G= (p.Glu1200=)
c.3328G= (p.Glu1110=)
n.3992G=
n.3977G=
n.4893G=
1g.5863904C>GCA338048803NPHP4c.4126G>C (p.Glu1376Gln)
n.3277G>C
c.*3027G>C (n.*3027G>C)
n.2874G>C
n.3858G>C
c.*1937G>C (n.*1937G>C)
c.2587G>C (p.Glu863Gln)
c.2590G>C (p.Glu864Gln)
n.4941G>C
c.4123G>C (p.Glu1375Gln)
c.4084G>C (p.Glu1362Gln)
c.4015G>C (p.Glu1339Gln)
c.4072G>C (p.Glu1358Gln)
c.4081G>C (p.Glu1361Gln)
c.3598G>C (p.Glu1200Gln)
c.3328G>C (p.Glu1110Gln)
n.3992G>C
n.3977G>C
n.4893G>C
 dbSNP
1g.5863904C>TCA338048804NPHP4c.4126G>A (p.Glu1376Lys)
n.3277G>A
c.*3027G>A (n.*3027G>A)
n.2874G>A
n.3858G>A
c.*1937G>A (n.*1937G>A)
c.2587G>A (p.Glu863Lys)
c.2590G>A (p.Glu864Lys)
n.4941G>A
c.4123G>A (p.Glu1375Lys)
c.4084G>A (p.Glu1362Lys)
c.4015G>A (p.Glu1339Lys)
c.4072G>A (p.Glu1358Lys)
c.4081G>A (p.Glu1361Lys)
c.3598G>A (p.Glu1200Lys)
c.3328G>A (p.Glu1110Lys)
n.3992G>A
n.3977G>A
n.4893G>A
 gnomAD v4
1g.5863905T>ACA338048807NPHP4c.4125A>T (p.Arg1375Ser)
n.3276A>T
c.*3026A>T (n.*3026A>T)
n.2873A>T
n.3857A>T
c.*1936A>T (n.*1936A>T)
c.2586A>T (p.Arg862Ser)
c.2589A>T (p.Arg863Ser)
n.4940A>T
c.4122A>T (p.Arg1374Ser)
c.4083A>T (p.Arg1361Ser)
c.4014A>T (p.Arg1338Ser)
c.4071A>T (p.Arg1357Ser)
c.4080A>T (p.Arg1360Ser)
c.3597A>T (p.Arg1199Ser)
c.3327A>T (p.Arg1109Ser)
n.3991A>T
n.3976A>T
n.4892A>T
1g.5863905T>CCA415786952NPHP4c.4125A>G (p.Arg1375=)
n.3276A>G
c.*3026A>G (n.*3026A>G)
n.2873A>G
n.3857A>G
c.*1936A>G (n.*1936A>G)
c.2586A>G (p.Arg862=)
c.2589A>G (p.Arg863=)
n.4940A>G
c.4122A>G (p.Arg1374=)
c.4083A>G (p.Arg1361=)
c.4014A>G (p.Arg1338=)
c.4071A>G (p.Arg1357=)
c.4080A>G (p.Arg1360=)
c.3597A>G (p.Arg1199=)
c.3327A>G (p.Arg1109=)
n.3991A>G
n.3976A>G
n.4892A>G
 dbSNP
1g.5863905T>GCA338048808NPHP4c.4125A>C (p.Arg1375Ser)
n.3276A>C
c.*3026A>C (n.*3026A>C)
n.2873A>C
n.3857A>C
c.*1936A>C (n.*1936A>C)
c.2586A>C (p.Arg862Ser)
c.2589A>C (p.Arg863Ser)
n.4940A>C
c.4122A>C (p.Arg1374Ser)
c.4083A>C (p.Arg1361Ser)
c.4014A>C (p.Arg1338Ser)
c.4071A>C (p.Arg1357Ser)
c.4080A>C (p.Arg1360Ser)
c.3597A>C (p.Arg1199Ser)
c.3327A>C (p.Arg1109Ser)
n.3991A>C
n.3976A>C
n.4892A>C
1g.5863906C>ACA338048810NPHP4c.4124G>T (p.Arg1375Ile)
n.3275G>T
c.*3025G>T (n.*3025G>T)
n.2872G>T
n.3856G>T
c.*1935G>T (n.*1935G>T)
c.2585G>T (p.Arg862Ile)
c.2588G>T (p.Arg863Ile)
n.4939G>T
c.4121G>T (p.Arg1374Ile)
c.4082G>T (p.Arg1361Ile)
c.4013G>T (p.Arg1338Ile)
c.4070G>T (p.Arg1357Ile)
c.4079G>T (p.Arg1360Ile)
c.3596G>T (p.Arg1199Ile)
c.3326G>T (p.Arg1109Ile)
n.3990G>T
n.3975G>T
n.4891G>T
1g.5863906C>GCA338048813NPHP4c.4124G>C (p.Arg1375Thr)
n.3275G>C
c.*3025G>C (n.*3025G>C)
n.2872G>C
n.3856G>C
c.*1935G>C (n.*1935G>C)
c.2585G>C (p.Arg862Thr)
c.2588G>C (p.Arg863Thr)
n.4939G>C
c.4121G>C (p.Arg1374Thr)
c.4082G>C (p.Arg1361Thr)
c.4013G>C (p.Arg1338Thr)
c.4070G>C (p.Arg1357Thr)
c.4079G>C (p.Arg1360Thr)
c.3596G>C (p.Arg1199Thr)
c.3326G>C (p.Arg1109Thr)
n.3990G>C
n.3975G>C
n.4891G>C
1g.5863906C>TCA338048812NPHP4c.4124G>A (p.Arg1375Lys)
n.3275G>A
c.*3025G>A (n.*3025G>A)
n.2872G>A
n.3856G>A
c.*1935G>A (n.*1935G>A)
c.2585G>A (p.Arg862Lys)
c.2588G>A (p.Arg863Lys)
n.4939G>A
c.4121G>A (p.Arg1374Lys)
c.4082G>A (p.Arg1361Lys)
c.4013G>A (p.Arg1338Lys)
c.4070G>A (p.Arg1357Lys)
c.4079G>A (p.Arg1360Lys)
c.3596G>A (p.Arg1199Lys)
c.3326G>A (p.Arg1109Lys)
n.3990G>A
n.3975G>A
n.4891G>A
 COSMIC
1g.5863907T>ACA338048815NPHP4c.4123A>T (p.Arg1375Ter)
n.3274A>T
c.*3024A>T (n.*3024A>T)
n.2871A>T
n.3855A>T
c.*1934A>T (n.*1934A>T)
c.2584A>T (p.Arg862Ter)
c.2587A>T (p.Arg863Ter)
n.4938A>T
c.4120A>T (p.Arg1374Ter)
c.4081A>T (p.Arg1361Ter)
c.4012A>T (p.Arg1338Ter)
c.4069A>T (p.Arg1357Ter)
c.4078A>T (p.Arg1360Ter)
c.3595A>T (p.Arg1199Ter)
c.3325A>T (p.Arg1109Ter)
n.3989A>T
n.3974A>T
n.4890A>T
1g.5863907T>CCA338048816NPHP4c.4123A>G (p.Arg1375Gly)
n.3274A>G
c.*3024A>G (n.*3024A>G)
n.2871A>G
n.3855A>G
c.*1934A>G (n.*1934A>G)
c.2584A>G (p.Arg862Gly)
c.2587A>G (p.Arg863Gly)
n.4938A>G
c.4120A>G (p.Arg1374Gly)
c.4081A>G (p.Arg1361Gly)
c.4012A>G (p.Arg1338Gly)
c.4069A>G (p.Arg1357Gly)
c.4078A>G (p.Arg1360Gly)
c.3595A>G (p.Arg1199Gly)
c.3325A>G (p.Arg1109Gly)
n.3989A>G
n.3974A>G
n.4890A>G
1g.5863907T>GCA415786953NPHP4c.4123A>C (p.Arg1375=)
n.3274A>C
c.*3024A>C (n.*3024A>C)
n.2871A>C
n.3855A>C
c.*1934A>C (n.*1934A>C)
c.2584A>C (p.Arg862=)
c.2587A>C (p.Arg863=)
n.4938A>C
c.4120A>C (p.Arg1374=)
c.4081A>C (p.Arg1361=)
c.4012A>C (p.Arg1338=)
c.4069A>C (p.Arg1357=)
c.4078A>C (p.Arg1360=)
c.3595A>C (p.Arg1199=)
c.3325A>C (p.Arg1109=)
n.3989A>C
n.3974A>C
n.4890A>C
1g.5863908G>ACA415786954NPHP4c.4122C>T (p.Phe1374=)
n.3273C>T
c.*3023C>T (n.*3023C>T)
n.2870C>T
n.3854C>T
c.*1933C>T (n.*1933C>T)
c.2583C>T (p.Phe861=)
c.2586C>T (p.Phe862=)
n.4937C>T
c.4119C>T (p.Phe1373=)
c.4080C>T (p.Phe1360=)
c.4011C>T (p.Phe1337=)
c.4068C>T (p.Phe1356=)
c.4077C>T (p.Phe1359=)
c.3594C>T (p.Phe1198=)
c.3324C>T (p.Phe1108=)
n.3988C>T
n.3973C>T
n.4889C>T
1g.5863908G>CCA338048818NPHP4c.4122C>G (p.Phe1374Leu)
n.3273C>G
c.*3023C>G (n.*3023C>G)
n.2870C>G
n.3854C>G
c.*1933C>G (n.*1933C>G)
c.2583C>G (p.Phe861Leu)
c.2586C>G (p.Phe862Leu)
n.4937C>G
c.4119C>G (p.Phe1373Leu)
c.4080C>G (p.Phe1360Leu)
c.4011C>G (p.Phe1337Leu)
c.4068C>G (p.Phe1356Leu)
c.4077C>G (p.Phe1359Leu)
c.3594C>G (p.Phe1198Leu)
c.3324C>G (p.Phe1108Leu)
n.3988C>G
n.3973C>G
n.4889C>G
 dbSNP gnomAD v2 gnomAD v4
1g.5863908G=CA1151209090NPHP4c.4122C= (p.Phe1374=)
n.3273C=
c.*3023C= (n.*3023C=)
n.2870C=
n.3854C=
c.*1933C= (n.*1933C=)
c.2583C= (p.Phe861=)
c.2586C= (p.Phe862=)
n.4937C=
c.4119C= (p.Phe1373=)
c.4080C= (p.Phe1360=)
c.4011C= (p.Phe1337=)
c.4068C= (p.Phe1356=)
c.4077C= (p.Phe1359=)
c.3594C= (p.Phe1198=)
c.3324C= (p.Phe1108=)
n.3988C=
n.3973C=
n.4889C=
1g.5863908G>TCA338048820NPHP4c.4122C>A (p.Phe1374Leu)
n.3273C>A
c.*3023C>A (n.*3023C>A)
n.2870C>A
n.3854C>A
c.*1933C>A (n.*1933C>A)
c.2583C>A (p.Phe861Leu)
c.2586C>A (p.Phe862Leu)
n.4937C>A
c.4119C>A (p.Phe1373Leu)
c.4080C>A (p.Phe1360Leu)
c.4011C>A (p.Phe1337Leu)
c.4068C>A (p.Phe1356Leu)
c.4077C>A (p.Phe1359Leu)
c.3594C>A (p.Phe1198Leu)
c.3324C>A (p.Phe1108Leu)
n.3988C>A
n.3973C>A
n.4889C>A
1g.5863909A=CA1151209092NPHP4c.4121T= (p.Phe1374=)
n.3272T=
c.*3022T= (n.*3022T=)
n.2869T=
n.3853T=
c.*1932T= (n.*1932T=)
c.2582T= (p.Phe861=)
c.2585T= (p.Phe862=)
n.4936T=
c.4118T= (p.Phe1373=)
c.4079T= (p.Phe1360=)
c.4010T= (p.Phe1337=)
c.4067T= (p.Phe1356=)
c.4076T= (p.Phe1359=)
c.3593T= (p.Phe1198=)
c.3323T= (p.Phe1108=)
n.3987T=
n.3972T=
n.4888T=
1g.5863909A>CCA338048822NPHP4c.4121T>G (p.Phe1374Cys)
n.3272T>G
c.*3022T>G (n.*3022T>G)
n.2869T>G
n.3853T>G
c.*1932T>G (n.*1932T>G)
c.2582T>G (p.Phe861Cys)
c.2585T>G (p.Phe862Cys)
n.4936T>G
c.4118T>G (p.Phe1373Cys)
c.4079T>G (p.Phe1360Cys)
c.4010T>G (p.Phe1337Cys)
c.4067T>G (p.Phe1356Cys)
c.4076T>G (p.Phe1359Cys)
c.3593T>G (p.Phe1198Cys)
c.3323T>G (p.Phe1108Cys)
n.3987T>G
n.3972T>G
n.4888T>G
1g.5863909A>GCA338048823NPHP4c.4121T>C (p.Phe1374Ser)
n.3272T>C
c.*3022T>C (n.*3022T>C)
n.2869T>C
n.3853T>C
c.*1932T>C (n.*1932T>C)
c.2582T>C (p.Phe861Ser)
c.2585T>C (p.Phe862Ser)
n.4936T>C
c.4118T>C (p.Phe1373Ser)
c.4079T>C (p.Phe1360Ser)
c.4010T>C (p.Phe1337Ser)
c.4067T>C (p.Phe1356Ser)
c.4076T>C (p.Phe1359Ser)
c.3593T>C (p.Phe1198Ser)
c.3323T>C (p.Phe1108Ser)
n.3987T>C
n.3972T>C
n.4888T>C
 dbSNP
1g.5863909A>TCA338048825NPHP4c.4121T>A (p.Phe1374Tyr)
n.3272T>A
c.*3022T>A (n.*3022T>A)
n.2869T>A
n.3853T>A
c.*1932T>A (n.*1932T>A)
c.2582T>A (p.Phe861Tyr)
c.2585T>A (p.Phe862Tyr)
n.4936T>A
c.4118T>A (p.Phe1373Tyr)
c.4079T>A (p.Phe1360Tyr)
c.4010T>A (p.Phe1337Tyr)
c.4067T>A (p.Phe1356Tyr)
c.4076T>A (p.Phe1359Tyr)
c.3593T>A (p.Phe1198Tyr)
c.3323T>A (p.Phe1108Tyr)
n.3987T>A
n.3972T>A
n.4888T>A
1g.5863910A>CCA338048827NPHP4c.4120T>G (p.Phe1374Val)
n.3271T>G
c.*3021T>G (n.*3021T>G)
n.2868T>G
n.3852T>G
c.*1931T>G (n.*1931T>G)
c.2581T>G (p.Phe861Val)
c.2584T>G (p.Phe862Val)
n.4935T>G
c.4117T>G (p.Phe1373Val)
c.4078T>G (p.Phe1360Val)
c.4009T>G (p.Phe1337Val)
c.4066T>G (p.Phe1356Val)
c.4075T>G (p.Phe1359Val)
c.3592T>G (p.Phe1198Val)
c.3322T>G (p.Phe1108Val)
n.3986T>G
n.3971T>G
n.4887T>G
1g.5863910A>GCA338048829NPHP4c.4120T>C (p.Phe1374Leu)
n.3271T>C
c.*3021T>C (n.*3021T>C)
n.2868T>C
n.3852T>C
c.*1931T>C (n.*1931T>C)
c.2581T>C (p.Phe861Leu)
c.2584T>C (p.Phe862Leu)
n.4935T>C
c.4117T>C (p.Phe1373Leu)
c.4078T>C (p.Phe1360Leu)
c.4009T>C (p.Phe1337Leu)
c.4066T>C (p.Phe1356Leu)
c.4075T>C (p.Phe1359Leu)
c.3592T>C (p.Phe1198Leu)
c.3322T>C (p.Phe1108Leu)
n.3986T>C
n.3971T>C
n.4887T>C
1g.5863910A>TCA338048831NPHP4c.4120T>A (p.Phe1374Ile)
n.3271T>A
c.*3021T>A (n.*3021T>A)
n.2868T>A
n.3852T>A
c.*1931T>A (n.*1931T>A)
c.2581T>A (p.Phe861Ile)
c.2584T>A (p.Phe862Ile)
n.4935T>A
c.4117T>A (p.Phe1373Ile)
c.4078T>A (p.Phe1360Ile)
c.4009T>A (p.Phe1337Ile)
c.4066T>A (p.Phe1356Ile)
c.4075T>A (p.Phe1359Ile)
c.3592T>A (p.Phe1198Ile)
c.3322T>A (p.Phe1108Ile)
n.3986T>A
n.3971T>A
n.4887T>A
1g.5863911C>ACA415786955NPHP4c.4119G>T (p.Arg1373=)
n.3270G>T
c.*3020G>T (n.*3020G>T)
n.2867G>T
n.3851G>T
c.*1930G>T (n.*1930G>T)
c.2580G>T (p.Arg860=)
c.2583G>T (p.Arg861=)
n.4934G>T
c.4116G>T (p.Arg1372=)
c.4077G>T (p.Arg1359=)
c.4008G>T (p.Arg1336=)
c.4065G>T (p.Arg1355=)
c.4074G>T (p.Arg1358=)
c.3591G>T (p.Arg1197=)
c.3321G>T (p.Arg1107=)
n.3985G>T
n.3970G>T
n.4886G>T
 COSMIC
1g.5863911C>GCA415786957NPHP4c.4119G>C (p.Arg1373=)
n.3270G>C
c.*3020G>C (n.*3020G>C)
n.2867G>C
n.3851G>C
c.*1930G>C (n.*1930G>C)
c.2580G>C (p.Arg860=)
c.2583G>C (p.Arg861=)
n.4934G>C
c.4116G>C (p.Arg1372=)
c.4077G>C (p.Arg1359=)
c.4008G>C (p.Arg1336=)
c.4065G>C (p.Arg1355=)
c.4074G>C (p.Arg1358=)
c.3591G>C (p.Arg1197=)
c.3321G>C (p.Arg1107=)
n.3985G>C
n.3970G>C
n.4886G>C
 gnomAD v4
1g.5863911C>TCA415786956NPHP4c.4119G>A (p.Arg1373=)
n.3270G>A
c.*3020G>A (n.*3020G>A)
n.2867G>A
n.3851G>A
c.*1930G>A (n.*1930G>A)
c.2580G>A (p.Arg860=)
c.2583G>A (p.Arg861=)
n.4934G>A
c.4116G>A (p.Arg1372=)
c.4077G>A (p.Arg1359=)
c.4008G>A (p.Arg1336=)
c.4065G>A (p.Arg1355=)
c.4074G>A (p.Arg1358=)
c.3591G>A (p.Arg1197=)
c.3321G>A (p.Arg1107=)
n.3985G>A
n.3970G>A
n.4886G>A
 gnomAD v4
1g.5863912C>ACA553349NPHP4c.4118G>T (p.Arg1373Leu)
n.3269G>T
c.*3019G>T (n.*3019G>T)
n.2866G>T
n.3850G>T
c.*1929G>T (n.*1929G>T)
c.2579G>T (p.Arg860Leu)
c.2582G>T (p.Arg861Leu)
n.4933G>T
c.4115G>T (p.Arg1372Leu)
c.4076G>T (p.Arg1359Leu)
c.4007G>T (p.Arg1336Leu)
c.4064G>T (p.Arg1355Leu)
c.4073G>T (p.Arg1358Leu)
c.3590G>T (p.Arg1197Leu)
c.3320G>T (p.Arg1107Leu)
n.3984G>T
n.3969G>T
n.4885G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5863912C=CA1151209097NPHP4c.4118G= (p.Arg1373=)
n.3269G=
c.*3019G= (n.*3019G=)
n.2866G=
n.3850G=
c.*1929G= (n.*1929G=)
c.2579G= (p.Arg860=)
c.2582G= (p.Arg861=)
n.4933G=
c.4115G= (p.Arg1372=)
c.4076G= (p.Arg1359=)
c.4007G= (p.Arg1336=)
c.4064G= (p.Arg1355=)
c.4073G= (p.Arg1358=)
c.3590G= (p.Arg1197=)
c.3320G= (p.Arg1107=)
n.3984G=
n.3969G=
n.4885G=
1g.5863912C>GCA338048833NPHP4c.4118G>C (p.Arg1373Pro)
n.3269G>C
c.*3019G>C (n.*3019G>C)
n.2866G>C
n.3850G>C
c.*1929G>C (n.*1929G>C)
c.2579G>C (p.Arg860Pro)
c.2582G>C (p.Arg861Pro)
n.4933G>C
c.4115G>C (p.Arg1372Pro)
c.4076G>C (p.Arg1359Pro)
c.4007G>C (p.Arg1336Pro)
c.4064G>C (p.Arg1355Pro)
c.4073G>C (p.Arg1358Pro)
c.3590G>C (p.Arg1197Pro)
c.3320G>C (p.Arg1107Pro)
n.3984G>C
n.3969G>C
n.4885G>C
 gnomAD v4
1g.5863912C>TCA338048835NPHP4c.4118G>A (p.Arg1373Gln)
n.3269G>A
c.*3019G>A (n.*3019G>A)
n.2866G>A
n.3850G>A
c.*1929G>A (n.*1929G>A)
c.2579G>A (p.Arg860Gln)
c.2582G>A (p.Arg861Gln)
n.4933G>A
c.4115G>A (p.Arg1372Gln)
c.4076G>A (p.Arg1359Gln)
c.4007G>A (p.Arg1336Gln)
c.4064G>A (p.Arg1355Gln)
c.4073G>A (p.Arg1358Gln)
c.3590G>A (p.Arg1197Gln)
c.3320G>A (p.Arg1107Gln)
n.3984G>A
n.3969G>A
n.4885G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.5863913G>ACA338048837NPHP4c.4117C>T (p.Arg1373Trp)
n.3268C>T
c.*3018C>T (n.*3018C>T)
n.2865C>T
n.3849C>T
c.*1928C>T (n.*1928C>T)
c.2578C>T (p.Arg860Trp)
c.2581C>T (p.Arg861Trp)
n.4932C>T
c.4114C>T (p.Arg1372Trp)
c.4075C>T (p.Arg1359Trp)
c.4006C>T (p.Arg1336Trp)
c.4063C>T (p.Arg1355Trp)
c.4072C>T (p.Arg1358Trp)
c.3589C>T (p.Arg1197Trp)
c.3319C>T (p.Arg1107Trp)
n.3983C>T
n.3968C>T
n.4884C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.5863913G>CCA338048839NPHP4c.4117C>G (p.Arg1373Gly)
n.3268C>G
c.*3018C>G (n.*3018C>G)
n.2865C>G
n.3849C>G
c.*1928C>G (n.*1928C>G)
c.2578C>G (p.Arg860Gly)
c.2581C>G (p.Arg861Gly)
n.4932C>G
c.4114C>G (p.Arg1372Gly)
c.4075C>G (p.Arg1359Gly)
c.4006C>G (p.Arg1336Gly)
c.4063C>G (p.Arg1355Gly)
c.4072C>G (p.Arg1358Gly)
c.3589C>G (p.Arg1197Gly)
c.3319C>G (p.Arg1107Gly)
n.3983C>G
n.3968C>G
n.4884C>G
1g.5863913G=CA1151209103NPHP4c.4117C= (p.Arg1373=)
n.3268C=
c.*3018C= (n.*3018C=)
n.2865C=
n.3849C=
c.*1928C= (n.*1928C=)
c.2578C= (p.Arg860=)
c.2581C= (p.Arg861=)
n.4932C=
c.4114C= (p.Arg1372=)
c.4075C= (p.Arg1359=)
c.4006C= (p.Arg1336=)
c.4063C= (p.Arg1355=)
c.4072C= (p.Arg1358=)
c.3589C= (p.Arg1197=)
c.3319C= (p.Arg1107=)
n.3983C=
n.3968C=
n.4884C=
1g.5863913G>TCA415786958NPHP4c.4117C>A (p.Arg1373=)
n.3268C>A
c.*3018C>A (n.*3018C>A)
n.2865C>A
n.3849C>A
c.*1928C>A (n.*1928C>A)
c.2578C>A (p.Arg860=)
c.2581C>A (p.Arg861=)
n.4932C>A
c.4114C>A (p.Arg1372=)
c.4075C>A (p.Arg1359=)
c.4006C>A (p.Arg1336=)
c.4063C>A (p.Arg1355=)
c.4072C>A (p.Arg1358=)
c.3589C>A (p.Arg1197=)
c.3319C>A (p.Arg1107=)
n.3983C>A
n.3968C>A
n.4884C>A
1g.5863914C>ACA415786959NPHP4c.4116G>T (p.Leu1372=)
n.3267G>T
c.*3017G>T (n.*3017G>T)
n.2864G>T
n.3848G>T
c.*1927G>T (n.*1927G>T)
c.2577G>T (p.Leu859=)
c.2580G>T (p.Leu860=)
n.4931G>T
c.4113G>T (p.Leu1371=)
c.4074G>T (p.Leu1358=)
c.4005G>T (p.Leu1335=)
c.4062G>T (p.Leu1354=)
c.4071G>T (p.Leu1357=)
c.3588G>T (p.Leu1196=)
c.3318G>T (p.Leu1106=)
n.3982G>T
n.3967G>T
n.4883G>T
1g.5863914C>GCA415786960NPHP4c.4116G>C (p.Leu1372=)
n.3267G>C
c.*3017G>C (n.*3017G>C)
n.2864G>C
n.3848G>C
c.*1927G>C (n.*1927G>C)
c.2577G>C (p.Leu859=)
c.2580G>C (p.Leu860=)
n.4931G>C
c.4113G>C (p.Leu1371=)
c.4074G>C (p.Leu1358=)
c.4005G>C (p.Leu1335=)
c.4062G>C (p.Leu1354=)
c.4071G>C (p.Leu1357=)
c.3588G>C (p.Leu1196=)
c.3318G>C (p.Leu1106=)
n.3982G>C
n.3967G>C
n.4883G>C
1g.5863914C>TCA415786961NPHP4c.4116G>A (p.Leu1372=)
n.3267G>A
c.*3017G>A (n.*3017G>A)
n.2864G>A
n.3848G>A
c.*1927G>A (n.*1927G>A)
c.2577G>A (p.Leu859=)
c.2580G>A (p.Leu860=)
n.4931G>A
c.4113G>A (p.Leu1371=)
c.4074G>A (p.Leu1358=)
c.4005G>A (p.Leu1335=)
c.4062G>A (p.Leu1354=)
c.4071G>A (p.Leu1357=)
c.3588G>A (p.Leu1196=)
c.3318G>A (p.Leu1106=)
n.3982G>A
n.3967G>A
n.4883G>A
 gnomAD v4
1g.5863915A=CA1151209110NPHP4c.4115T= (p.Leu1372=)
n.3266T=
c.*3016T= (n.*3016T=)
n.2863T=
n.3847T=
c.*1926T= (n.*1926T=)
c.2576T= (p.Leu859=)
c.2579T= (p.Leu860=)
n.4930T=
c.4112T= (p.Leu1371=)
c.4073T= (p.Leu1358=)
c.4004T= (p.Leu1335=)
c.4061T= (p.Leu1354=)
c.4070T= (p.Leu1357=)
c.3587T= (p.Leu1196=)
c.3317T= (p.Leu1106=)
n.3981T=
n.3966T=
n.4882T=
1g.5863915A>CCA338048844NPHP4c.4115T>G (p.Leu1372Arg)
n.3266T>G
c.*3016T>G (n.*3016T>G)
n.2863T>G
n.3847T>G
c.*1926T>G (n.*1926T>G)
c.2576T>G (p.Leu859Arg)
c.2579T>G (p.Leu860Arg)
n.4930T>G
c.4112T>G (p.Leu1371Arg)
c.4073T>G (p.Leu1358Arg)
c.4004T>G (p.Leu1335Arg)
c.4061T>G (p.Leu1354Arg)
c.4070T>G (p.Leu1357Arg)
c.3587T>G (p.Leu1196Arg)
c.3317T>G (p.Leu1106Arg)
n.3981T>G
n.3966T>G
n.4882T>G
1g.5863915A>GCA17124832NPHP4c.4115T>C (p.Leu1372Pro)
n.3266T>C
c.*3016T>C (n.*3016T>C)
n.2863T>C
n.3847T>C
c.*1926T>C (n.*1926T>C)
c.2576T>C (p.Leu859Pro)
c.2579T>C (p.Leu860Pro)
n.4930T>C
c.4112T>C (p.Leu1371Pro)
c.4073T>C (p.Leu1358Pro)
c.4004T>C (p.Leu1335Pro)
c.4061T>C (p.Leu1354Pro)
c.4070T>C (p.Leu1357Pro)
c.3587T>C (p.Leu1196Pro)
c.3317T>C (p.Leu1106Pro)
n.3981T>C
n.3966T>C
n.4882T>C
 ClinVar dbSNP gnomAD v4
1g.5863915A>TCA338048842NPHP4c.4115T>A (p.Leu1372Gln)
n.3266T>A
c.*3016T>A (n.*3016T>A)
n.2863T>A
n.3847T>A
c.*1926T>A (n.*1926T>A)
c.2576T>A (p.Leu859Gln)
c.2579T>A (p.Leu860Gln)
n.4930T>A
c.4112T>A (p.Leu1371Gln)
c.4073T>A (p.Leu1358Gln)
c.4004T>A (p.Leu1335Gln)
c.4061T>A (p.Leu1354Gln)
c.4070T>A (p.Leu1357Gln)
c.3587T>A (p.Leu1196Gln)
c.3317T>A (p.Leu1106Gln)
n.3981T>A
n.3966T>A
n.4882T>A
 COSMIC
1g.5863916G>ACA337751NPHP4c.4114C>T (p.Leu1372=)
n.3265C>T
c.*3015C>T (n.*3015C>T)
n.2862C>T
n.3846C>T
c.*1925C>T (n.*1925C>T)
c.2575C>T (p.Leu859=)
c.2578C>T (p.Leu860=)
n.4929C>T
c.4111C>T (p.Leu1371=)
c.4072C>T (p.Leu1358=)
c.4003C>T (p.Leu1335=)
c.4060C>T (p.Leu1354=)
c.4069C>T (p.Leu1357=)
c.3586C>T (p.Leu1196=)
c.3316C>T (p.Leu1106=)
n.3980C>T
n.3965C>T
n.4881C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5863916G>CCA338048846NPHP4c.4114C>G (p.Leu1372Val)
n.3265C>G
c.*3015C>G (n.*3015C>G)
n.2862C>G
n.3846C>G
c.*1925C>G (n.*1925C>G)
c.2575C>G (p.Leu859Val)
c.2578C>G (p.Leu860Val)
n.4929C>G
c.4111C>G (p.Leu1371Val)
c.4072C>G (p.Leu1358Val)
c.4003C>G (p.Leu1335Val)
c.4060C>G (p.Leu1354Val)
c.4069C>G (p.Leu1357Val)
c.3586C>G (p.Leu1196Val)
c.3316C>G (p.Leu1106Val)
n.3980C>G
n.3965C>G
n.4881C>G
1g.5863916G=CA1143974410NPHP4c.4114C= (p.Leu1372=)
n.3265C=
c.*3015C= (n.*3015C=)
n.2862C=
n.3846C=
c.*1925C= (n.*1925C=)
c.2575C= (p.Leu859=)
c.2578C= (p.Leu860=)
n.4929C=
c.4111C= (p.Leu1371=)
c.4072C= (p.Leu1358=)
c.4003C= (p.Leu1335=)
c.4060C= (p.Leu1354=)
c.4069C= (p.Leu1357=)
c.3586C= (p.Leu1196=)
c.3316C= (p.Leu1106=)
n.3980C=
n.3965C=
n.4881C=
1g.5863916G>TCA338048848NPHP4c.4114C>A (p.Leu1372Met)
n.3265C>A
c.*3015C>A (n.*3015C>A)
n.2862C>A
n.3846C>A
c.*1925C>A (n.*1925C>A)
c.2575C>A (p.Leu859Met)
c.2578C>A (p.Leu860Met)
n.4929C>A
c.4111C>A (p.Leu1371Met)
c.4072C>A (p.Leu1358Met)
c.4003C>A (p.Leu1335Met)
c.4060C>A (p.Leu1354Met)
c.4069C>A (p.Leu1357Met)
c.3586C>A (p.Leu1196Met)
c.3316C>A (p.Leu1106Met)
n.3980C>A
n.3965C>A
n.4881C>A
1g.5863917C>ACA553350NPHP4c.4113G>T (p.Leu1371=)
n.3264G>T
c.*3014G>T (n.*3014G>T)
n.2861G>T
n.3845G>T
c.*1924G>T (n.*1924G>T)
c.2574G>T (p.Leu858=)
c.2577G>T (p.Leu859=)
n.4928G>T
c.4110G>T (p.Leu1370=)
c.4071G>T (p.Leu1357=)
c.4002G>T (p.Leu1334=)
c.4059G>T (p.Leu1353=)
c.4068G>T (p.Leu1356=)
c.3585G>T (p.Leu1195=)
c.3315G>T (p.Leu1105=)
n.3979G>T
n.3964G>T
n.4880G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.5863917C=CA1148435677NPHP4c.4113G= (p.Leu1371=)
n.3264G=
c.*3014G= (n.*3014G=)
n.2861G=
n.3845G=
c.*1924G= (n.*1924G=)
c.2574G= (p.Leu858=)
c.2577G= (p.Leu859=)
n.4928G=
c.4110G= (p.Leu1370=)
c.4071G= (p.Leu1357=)
c.4002G= (p.Leu1334=)
c.4059G= (p.Leu1353=)
c.4068G= (p.Leu1356=)
c.3585G= (p.Leu1195=)
c.3315G= (p.Leu1105=)
n.3979G=
n.3964G=
n.4880G=
1g.5863917C>GCA415786962NPHP4c.4113G>C (p.Leu1371=)
n.3264G>C
c.*3014G>C (n.*3014G>C)
n.2861G>C
n.3845G>C
c.*1924G>C (n.*1924G>C)
c.2574G>C (p.Leu858=)
c.2577G>C (p.Leu859=)
n.4928G>C
c.4110G>C (p.Leu1370=)
c.4071G>C (p.Leu1357=)
c.4002G>C (p.Leu1334=)
c.4059G>C (p.Leu1353=)
c.4068G>C (p.Leu1356=)
c.3585G>C (p.Leu1195=)
c.3315G>C (p.Leu1105=)
n.3979G>C
n.3964G>C
n.4880G>C
 ClinVar dbSNP gnomAD v4 COSMIC
1g.5863917C>TCA415786963NPHP4c.4113G>A (p.Leu1371=)
n.3264G>A
c.*3014G>A (n.*3014G>A)
n.2861G>A
n.3845G>A
c.*1924G>A (n.*1924G>A)
c.2574G>A (p.Leu858=)
c.2577G>A (p.Leu859=)
n.4928G>A
c.4110G>A (p.Leu1370=)
c.4071G>A (p.Leu1357=)
c.4002G>A (p.Leu1334=)
c.4059G>A (p.Leu1353=)
c.4068G>A (p.Leu1356=)
c.3585G>A (p.Leu1195=)
c.3315G>A (p.Leu1105=)
n.3979G>A
n.3964G>A
n.4880G>A
1g.5863917_5863918insGAACCCTTCAACCCGCGGTTCATTGCA2552022047NPHP4c.4112_4113insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1372AsnfsTer33)
n.3263_3264insCAATGAACCGCGGGTTGAAGGGTTC
c.*3013_*3014insCAATGAACCGCGGGTTGAAGGGTTC (n.*3013_*3014insCAATGAACCGCGGGTTGAAGGGTTC)
n.2860_2861insCAATGAACCGCGGGTTGAAGGGTTC
n.3844_3845insCAATGAACCGCGGGTTGAAGGGTTC
c.*1923_*1924insCAATGAACCGCGGGTTGAAGGGTTC (n.*1923_*1924insCAATGAACCGCGGGTTGAAGGGTTC)
c.2573_2574insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu859AsnfsTer33)
c.2576_2577insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu860AsnfsTer33)
n.4927_4928insCAATGAACCGCGGGTTGAAGGGTTC
c.4109_4110insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1371AsnfsTer33)
c.4070_4071insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1358AsnfsTer33)
c.4001_4002insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1335AsnfsTer33)
c.4058_4059insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1354AsnfsTer33)
c.4067_4068insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1357AsnfsTer33)
c.3584_3585insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1196AsnfsTer33)
c.3314_3315insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1106AsnfsTer33)
n.3978_3979insCAATGAACCGCGGGTTGAAGGGTTC
n.3963_3964insCAATGAACCGCGGGTTGAAGGGTTC
n.4879_4880insCAATGAACCGCGGGTTGAAGGGTTC
1g.5863917_5863918insGAACCCTTCAACCCGCGGTTCATTGAGCA2532726099NPHP4c.4112_4113insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1371_Leu1372insSerMetAsnArgGlyLeuLysGlySer)
n.3263_3264insCTCAATGAACCGCGGGTTGAAGGGTTC
c.*3013_*3014insCTCAATGAACCGCGGGTTGAAGGGTTC (n.*3013_*3014insCTCAATGAACCGCGGGTTGAAGGGTTC)
n.2860_2861insCTCAATGAACCGCGGGTTGAAGGGTTC
n.3844_3845insCTCAATGAACCGCGGGTTGAAGGGTTC
c.*1923_*1924insCTCAATGAACCGCGGGTTGAAGGGTTC (n.*1923_*1924insCTCAATGAACCGCGGGTTGAAGGGTTC)
c.2573_2574insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu858_Leu859insSerMetAsnArgGlyLeuLysGlySer)
c.2576_2577insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu859_Leu860insSerMetAsnArgGlyLeuLysGlySer)
n.4927_4928insCTCAATGAACCGCGGGTTGAAGGGTTC
c.4109_4110insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1370_Leu1371insSerMetAsnArgGlyLeuLysGlySer)
c.4070_4071insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1357_Leu1358insSerMetAsnArgGlyLeuLysGlySer)
c.4001_4002insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1334_Leu1335insSerMetAsnArgGlyLeuLysGlySer)
c.4058_4059insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1353_Leu1354insSerMetAsnArgGlyLeuLysGlySer)
c.4067_4068insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1356_Leu1357insSerMetAsnArgGlyLeuLysGlySer)
c.3584_3585insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1195_Leu1196insSerMetAsnArgGlyLeuLysGlySer)
c.3314_3315insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1105_Leu1106insSerMetAsnArgGlyLeuLysGlySer)
n.3978_3979insCTCAATGAACCGCGGGTTGAAGGGTTC
n.3963_3964insCTCAATGAACCGCGGGTTGAAGGGTTC
n.4879_4880insCTCAATGAACCGCGGGTTGAAGGGTTC
1g.5863918A>CCA338048851NPHP4c.4112T>G (p.Leu1371Arg)
n.3263T>G
c.*3013T>G (n.*3013T>G)
n.2860T>G
n.3844T>G
c.*1923T>G (n.*1923T>G)
c.2573T>G (p.Leu858Arg)
c.2576T>G (p.Leu859Arg)
n.4927T>G
c.4109T>G (p.Leu1370Arg)
c.4070T>G (p.Leu1357Arg)
c.4001T>G (p.Leu1334Arg)
c.4058T>G (p.Leu1353Arg)
c.4067T>G (p.Leu1356Arg)
c.3584T>G (p.Leu1195Arg)
c.3314T>G (p.Leu1105Arg)
n.3978T>G
n.3963T>G
n.4879T>G
1g.5863918A>GCA338048853NPHP4c.4112T>C (p.Leu1371Pro)
n.3263T>C
c.*3013T>C (n.*3013T>C)
n.2860T>C
n.3844T>C
c.*1923T>C (n.*1923T>C)
c.2573T>C (p.Leu858Pro)
c.2576T>C (p.Leu859Pro)
n.4927T>C
c.4109T>C (p.Leu1370Pro)
c.4070T>C (p.Leu1357Pro)
c.4001T>C (p.Leu1334Pro)
c.4058T>C (p.Leu1353Pro)
c.4067T>C (p.Leu1356Pro)
c.3584T>C (p.Leu1195Pro)
c.3314T>C (p.Leu1105Pro)
n.3978T>C
n.3963T>C
n.4879T>C
1g.5863918A>TCA338048855NPHP4c.4112T>A (p.Leu1371Gln)
n.3263T>A
c.*3013T>A (n.*3013T>A)
n.2860T>A
n.3844T>A
c.*1923T>A (n.*1923T>A)
c.2573T>A (p.Leu858Gln)
c.2576T>A (p.Leu859Gln)
n.4927T>A
c.4109T>A (p.Leu1370Gln)
c.4070T>A (p.Leu1357Gln)
c.4001T>A (p.Leu1334Gln)
c.4058T>A (p.Leu1353Gln)
c.4067T>A (p.Leu1356Gln)
c.3584T>A (p.Leu1195Gln)
c.3314T>A (p.Leu1105Gln)
n.3978T>A
n.3963T>A
n.4879T>A
1g.5863919G>ACA553351NPHP4c.4111C>T (p.Leu1371=)
n.3262C>T
c.*3012C>T (n.*3012C>T)
n.2859C>T
n.3843C>T
c.*1922C>T (n.*1922C>T)
c.2572C>T (p.Leu858=)
c.2575C>T (p.Leu859=)
n.4926C>T
c.4108C>T (p.Leu1370=)
c.4069C>T (p.Leu1357=)
c.4000C>T (p.Leu1334=)
c.4057C>T (p.Leu1353=)
c.4066C>T (p.Leu1356=)
c.3583C>T (p.Leu1195=)
c.3313C>T (p.Leu1105=)
n.3977C>T
n.3962C>T
n.4878C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5863919G>CCA338048857NPHP4c.4111C>G (p.Leu1371Val)
n.3262C>G
c.*3012C>G (n.*3012C>G)
n.2859C>G
n.3843C>G
c.*1922C>G (n.*1922C>G)
c.2572C>G (p.Leu858Val)
c.2575C>G (p.Leu859Val)
n.4926C>G
c.4108C>G (p.Leu1370Val)
c.4069C>G (p.Leu1357Val)
c.4000C>G (p.Leu1334Val)
c.4057C>G (p.Leu1353Val)
c.4066C>G (p.Leu1356Val)
c.3583C>G (p.Leu1195Val)
c.3313C>G (p.Leu1105Val)
n.3977C>G
n.3962C>G
n.4878C>G
1g.5863919G=CA1143606858NPHP4c.4111C= (p.Leu1371=)
n.3262C=
c.*3012C= (n.*3012C=)
n.2859C=
n.3843C=
c.*1922C= (n.*1922C=)
c.2572C= (p.Leu858=)
c.2575C= (p.Leu859=)
n.4926C=
c.4108C= (p.Leu1370=)
c.4069C= (p.Leu1357=)
c.4000C= (p.Leu1334=)
c.4057C= (p.Leu1353=)
c.4066C= (p.Leu1356=)
c.3583C= (p.Leu1195=)
c.3313C= (p.Leu1105=)
n.3977C=
n.3962C=
n.4878C=
1g.5863919G>TCA338048858NPHP4c.4111C>A (p.Leu1371Met)
n.3262C>A
c.*3012C>A (n.*3012C>A)
n.2859C>A
n.3843C>A
c.*1922C>A (n.*1922C>A)
c.2572C>A (p.Leu858Met)
c.2575C>A (p.Leu859Met)
n.4926C>A
c.4108C>A (p.Leu1370Met)
c.4069C>A (p.Leu1357Met)
c.4000C>A (p.Leu1334Met)
c.4057C>A (p.Leu1353Met)
c.4066C>A (p.Leu1356Met)
c.3583C>A (p.Leu1195Met)
c.3313C>A (p.Leu1105Met)
n.3977C>A
n.3962C>A
n.4878C>A
1g.5863919_5863920insAGTGGCCGCGAAGACATTCAGCGCACCTACGACTACCA2537045425NPHP4c.4110_4111insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1370_Leu1371insValValValGlyAlaLeuAsnValPheAlaAlaThr)
n.3261_3262insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT
c.*3011_*3012insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (n.*3011_*3012insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT)
n.2858_2859insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT
n.3842_3843insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT
c.*1921_*1922insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (n.*1921_*1922insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT)
c.2571_2572insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu857_Leu858insValValValGlyAlaLeuAsnValPheAlaAlaThr)
c.2574_2575insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu858_Leu859insValValValGlyAlaLeuAsnValPheAlaAlaThr)
n.4925_4926insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT
c.4107_4108insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1369_Leu1370insValValValGlyAlaLeuAsnValPheAlaAlaThr)
c.4068_4069insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1356_Leu1357insValValValGlyAlaLeuAsnValPheAlaAlaThr)
c.3999_4000insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1333_Leu1334insValValValGlyAlaLeuAsnValPheAlaAlaThr)
c.4056_4057insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1352_Leu1353insValValValGlyAlaLeuAsnValPheAlaAlaThr)
c.4065_4066insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1355_Leu1356insValValValGlyAlaLeuAsnValPheAlaAlaThr)
c.3582_3583insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1194_Leu1195insValValValGlyAlaLeuAsnValPheAlaAlaThr)
c.3312_3313insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1104_Leu1105insValValValGlyAlaLeuAsnValPheAlaAlaThr)
n.3976_3977insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT
n.3961_3962insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT
n.4877_4878insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT
1g.5863920C>ACA338048860NPHP4c.4110G>T (p.Glu1370Asp)
n.3261G>T
c.*3011G>T (n.*3011G>T)
n.2858G>T
n.3842G>T
c.*1921G>T (n.*1921G>T)
c.2571G>T (p.Glu857Asp)
c.2574G>T (p.Glu858Asp)
n.4925G>T
c.4107G>T (p.Glu1369Asp)
c.4068G>T (p.Glu1356Asp)
c.3999G>T (p.Glu1333Asp)
c.4056G>T (p.Glu1352Asp)
c.4065G>T (p.Glu1355Asp)
c.3582G>T (p.Glu1194Asp)
c.3312G>T (p.Glu1104Asp)
n.3976G>T
n.3961G>T
n.4877G>T
1g.5863920C>GCA338048863NPHP4c.4110G>C (p.Glu1370Asp)
n.3261G>C
c.*3011G>C (n.*3011G>C)
n.2858G>C
n.3842G>C
c.*1921G>C (n.*1921G>C)
c.2571G>C (p.Glu857Asp)
c.2574G>C (p.Glu858Asp)
n.4925G>C
c.4107G>C (p.Glu1369Asp)
c.4068G>C (p.Glu1356Asp)
c.3999G>C (p.Glu1333Asp)
c.4056G>C (p.Glu1352Asp)
c.4065G>C (p.Glu1355Asp)
c.3582G>C (p.Glu1194Asp)
c.3312G>C (p.Glu1104Asp)
n.3976G>C
n.3961G>C
n.4877G>C
1g.5863920C>TCA415786964NPHP4c.4110G>A (p.Glu1370=)
n.3261G>A
c.*3011G>A (n.*3011G>A)
n.2858G>A
n.3842G>A
c.*1921G>A (n.*1921G>A)
c.2571G>A (p.Glu857=)
c.2574G>A (p.Glu858=)
n.4925G>A
c.4107G>A (p.Glu1369=)
c.4068G>A (p.Glu1356=)
c.3999G>A (p.Glu1333=)
c.4056G>A (p.Glu1352=)
c.4065G>A (p.Glu1355=)
c.3582G>A (p.Glu1194=)
c.3312G>A (p.Glu1104=)
n.3976G>A
n.3961G>A
n.4877G>A
1g.5863921_5863922delCA2642901858NPHP4c.4109_4110del (p.Glu1370AlafsTer26)
n.3260_3261del
c.*3010_*3011del (n.*3010_*3011del)
n.2857_2858del
n.3841_3842del
c.*1920_*1921del (n.*1920_*1921del)
c.2570_2571del (p.Glu857AlafsTer26)
c.2573_2574del (p.Glu858AlafsTer26)
n.4924_4925del
c.4106_4107del (p.Glu1369AlafsTer26)
c.4067_4068del (p.Glu1356AlafsTer26)
c.3998_3999del (p.Glu1333AlafsTer26)
c.4055_4056del (p.Glu1352AlafsTer26)
c.4064_4065del (p.Glu1355AlafsTer26)
c.3581_3582del (p.Glu1194AlafsTer26)
c.3311_3312del (p.Glu1104AlafsTer26)
n.3975_3976del
n.3960_3961del
n.4876_4877del
 gnomAD v4
1g.5863920_5863921insGGCA2540869744NPHP4c.4109_4110insCC (p.Glu1370AspfsTer?)
n.3260_3261insCC
c.*3010_*3011insCC (n.*3010_*3011insCC)
n.2857_2858insCC
n.3841_3842insCC
c.*1920_*1921insCC (n.*1920_*1921insCC)
c.2570_2571insCC (p.Glu857AspfsTer?)
c.2573_2574insCC (p.Glu858AspfsTer?)
n.4924_4925insCC
c.4106_4107insCC (p.Glu1369AspfsTer?)
c.4067_4068insCC (p.Glu1356AspfsTer?)
c.3998_3999insCC (p.Glu1333AspfsTer?)
c.4055_4056insCC (p.Glu1352AspfsTer?)
c.4064_4065insCC (p.Glu1355AspfsTer?)
c.3581_3582insCC (p.Glu1194AspfsTer?)
c.3311_3312insCC (p.Glu1104AspfsTer?)
n.3975_3976insCC
n.3960_3961insCC
n.4876_4877insCC
1g.5863920_5863921insGGCCGCGAAGACATCA2515184818NPHP4c.4109_4110insATGTCTTCGCGGCC (p.Leu1371CysfsTer?)
n.3260_3261insATGTCTTCGCGGCC
c.*3010_*3011insATGTCTTCGCGGCC (n.*3010_*3011insATGTCTTCGCGGCC)
n.2857_2858insATGTCTTCGCGGCC
n.3841_3842insATGTCTTCGCGGCC
c.*1920_*1921insATGTCTTCGCGGCC (n.*1920_*1921insATGTCTTCGCGGCC)
c.2570_2571insATGTCTTCGCGGCC (p.Leu858CysfsTer?)
c.2573_2574insATGTCTTCGCGGCC (p.Leu859CysfsTer?)
n.4924_4925insATGTCTTCGCGGCC
c.4106_4107insATGTCTTCGCGGCC (p.Leu1370CysfsTer?)
c.4067_4068insATGTCTTCGCGGCC (p.Leu1357CysfsTer?)
c.3998_3999insATGTCTTCGCGGCC (p.Leu1334CysfsTer?)
c.4055_4056insATGTCTTCGCGGCC (p.Leu1353CysfsTer?)
c.4064_4065insATGTCTTCGCGGCC (p.Leu1356CysfsTer?)
c.3581_3582insATGTCTTCGCGGCC (p.Leu1195CysfsTer?)
c.3311_3312insATGTCTTCGCGGCC (p.Leu1105CysfsTer?)
n.3975_3976insATGTCTTCGCGGCC
n.3960_3961insATGTCTTCGCGGCC
n.4876_4877insATGTCTTCGCGGCC
1g.5863921T>ACA338048864NPHP4c.4109A>T (p.Glu1370Val)
n.3260A>T
c.*3010A>T (n.*3010A>T)
n.2857A>T
n.3841A>T
c.*1920A>T (n.*1920A>T)
c.2570A>T (p.Glu857Val)
c.2573A>T (p.Glu858Val)
n.4924A>T
c.4106A>T (p.Glu1369Val)
c.4067A>T (p.Glu1356Val)
c.3998A>T (p.Glu1333Val)
c.4055A>T (p.Glu1352Val)
c.4064A>T (p.Glu1355Val)
c.3581A>T (p.Glu1194Val)
c.3311A>T (p.Glu1104Val)
n.3975A>T
n.3960A>T
n.4876A>T
 dbSNP gnomAD v2 gnomAD v4
1g.5863921T>CCA338048868NPHP4c.4109A>G (p.Glu1370Gly)
n.3260A>G
c.*3010A>G (n.*3010A>G)
n.2857A>G
n.3841A>G
c.*1920A>G (n.*1920A>G)
c.2570A>G (p.Glu857Gly)
c.2573A>G (p.Glu858Gly)
n.4924A>G
c.4106A>G (p.Glu1369Gly)
c.4067A>G (p.Glu1356Gly)
c.3998A>G (p.Glu1333Gly)
c.4055A>G (p.Glu1352Gly)
c.4064A>G (p.Glu1355Gly)
c.3581A>G (p.Glu1194Gly)
c.3311A>G (p.Glu1104Gly)
n.3975A>G
n.3960A>G
n.4876A>G
1g.5863921T>GCA338048865NPHP4c.4109A>C (p.Glu1370Ala)
n.3260A>C
c.*3010A>C (n.*3010A>C)
n.2857A>C
n.3841A>C
c.*1920A>C (n.*1920A>C)
c.2570A>C (p.Glu857Ala)
c.2573A>C (p.Glu858Ala)
n.4924A>C
c.4106A>C (p.Glu1369Ala)
c.4067A>C (p.Glu1356Ala)
c.3998A>C (p.Glu1333Ala)
c.4055A>C (p.Glu1352Ala)
c.4064A>C (p.Glu1355Ala)
c.3581A>C (p.Glu1194Ala)
c.3311A>C (p.Glu1104Ala)
n.3975A>C
n.3960A>C
n.4876A>C
 gnomAD v4
1g.5863921T=CA1151209125NPHP4c.4109A= (p.Glu1370=)
n.3260A=
c.*3010A= (n.*3010A=)
n.2857A=
n.3841A=
c.*1920A= (n.*1920A=)
c.2570A= (p.Glu857=)
c.2573A= (p.Glu858=)
n.4924A=
c.4106A= (p.Glu1369=)
c.4067A= (p.Glu1356=)
c.3998A= (p.Glu1333=)
c.4055A= (p.Glu1352=)
c.4064A= (p.Glu1355=)
c.3581A= (p.Glu1194=)
c.3311A= (p.Glu1104=)
n.3975A=
n.3960A=
n.4876A=
1g.5863922C>ACA338048870NPHP4c.4108G>T (p.Glu1370Ter)
n.3259G>T
c.*3009G>T (n.*3009G>T)
n.2856G>T
n.3840G>T
c.*1919G>T (n.*1919G>T)
c.2569G>T (p.Glu857Ter)
c.2572G>T (p.Glu858Ter)
n.4923G>T
c.4105G>T (p.Glu1369Ter)
c.4066G>T (p.Glu1356Ter)
c.3997G>T (p.Glu1333Ter)
c.4054G>T (p.Glu1352Ter)
c.4063G>T (p.Glu1355Ter)
c.3580G>T (p.Glu1194Ter)
c.3310G>T (p.Glu1104Ter)
n.3974G>T
n.3959G>T
n.4875G>T
 dbSNP gnomAD v2 gnomAD v4
1g.5863922C=CA1151209131NPHP4c.4108G= (p.Glu1370=)
n.3259G=
c.*3009G= (n.*3009G=)
n.2856G=
n.3840G=
c.*1919G= (n.*1919G=)
c.2569G= (p.Glu857=)
c.2572G= (p.Glu858=)
n.4923G=
c.4105G= (p.Glu1369=)
c.4066G= (p.Glu1356=)
c.3997G= (p.Glu1333=)
c.4054G= (p.Glu1352=)
c.4063G= (p.Glu1355=)
c.3580G= (p.Glu1194=)
c.3310G= (p.Glu1104=)
n.3974G=
n.3959G=
n.4875G=
1g.5863922C>GCA338048872NPHP4c.4108G>C (p.Glu1370Gln)
n.3259G>C
c.*3009G>C (n.*3009G>C)
n.2856G>C
n.3840G>C
c.*1919G>C (n.*1919G>C)
c.2569G>C (p.Glu857Gln)
c.2572G>C (p.Glu858Gln)
n.4923G>C
c.4105G>C (p.Glu1369Gln)
c.4066G>C (p.Glu1356Gln)
c.3997G>C (p.Glu1333Gln)
c.4054G>C (p.Glu1352Gln)
c.4063G>C (p.Glu1355Gln)
c.3580G>C (p.Glu1194Gln)
c.3310G>C (p.Glu1104Gln)
n.3974G>C
n.3959G>C
n.4875G>C
1g.5863922C>TCA338048873NPHP4c.4108G>A (p.Glu1370Lys)
n.3259G>A
c.*3009G>A (n.*3009G>A)
n.2856G>A
n.3840G>A
c.*1919G>A (n.*1919G>A)
c.2569G>A (p.Glu857Lys)
c.2572G>A (p.Glu858Lys)
n.4923G>A
c.4105G>A (p.Glu1369Lys)
c.4066G>A (p.Glu1356Lys)
c.3997G>A (p.Glu1333Lys)
c.4054G>A (p.Glu1352Lys)
c.4063G>A (p.Glu1355Lys)
c.3580G>A (p.Glu1194Lys)
c.3310G>A (p.Glu1104Lys)
n.3974G>A
n.3959G>A
n.4875G>A
1g.5863922_5863923insGAGCACATGGAACTGAGCGGACTGCTCAAGCGCATCCATGAGGCTCGCACCGTGTACTGCTTCA2570248983NPHP4c.4107_4108insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1370LysfsTer?)
n.3258_3259insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC
c.*3008_*3009insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (n.*3008_*3009insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC)
n.2855_2856insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC
n.3839_3840insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC
c.*1918_*1919insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (n.*1918_*1919insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC)
c.2568_2569insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu857LysfsTer?)
c.2571_2572insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu858LysfsTer?)
n.4922_4923insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC
c.4104_4105insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1369LysfsTer?)
c.4065_4066insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1356LysfsTer?)
c.3996_3997insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1333LysfsTer?)
c.4053_4054insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1352LysfsTer?)
c.4062_4063insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1355LysfsTer?)
c.3579_3580insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1194LysfsTer?)
c.3309_3310insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1104LysfsTer?)
n.3973_3974insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC
n.3958_3959insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC
n.4874_4875insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC
1g.5863922_5863923insAGCGCACCTATGACTACCTCGAGCACATGGAGCTGAGCGGACTGCTCAAGCGCATCCATGAGGCTCGCACTGTGTACTGCTTCA2536038692NPHP4c.4107_4108insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1370LysfsTer23)
n.3258_3259insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT
c.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (n.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT)
n.2855_2856insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT
n.3839_3840insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT
c.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (n.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT)
c.2568_2569insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu857LysfsTer23)
c.2571_2572insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu858LysfsTer23)
n.4922_4923insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT
c.4104_4105insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1369LysfsTer23)
c.4065_4066insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1356LysfsTer23)
c.3996_3997insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1333LysfsTer23)
c.4053_4054insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1352LysfsTer23)
c.4062_4063insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1355LysfsTer23)
c.3579_3580insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1194LysfsTer23)
c.3309_3310insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1104LysfsTer23)
n.3973_3974insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT
n.3958_3959insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT
n.4874_4875insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT
1g.5863922_5863923insAGCGCACCTACGACTACCTCGAGCACATGGAACTGAGCGGACTGCTTAAGCGCATCCATGAGGCTCGCACTGTGTACTGCTTCA2511156962NPHP4c.4107_4108insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1370LysfsTer23)
n.3258_3259insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT
c.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (n.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT)
n.2855_2856insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT
n.3839_3840insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT
c.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (n.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT)
c.2568_2569insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu857LysfsTer23)
c.2571_2572insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu858LysfsTer23)
n.4922_4923insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT
c.4104_4105insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1369LysfsTer23)
c.4065_4066insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1356LysfsTer23)
c.3996_3997insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1333LysfsTer23)
c.4053_4054insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1352LysfsTer23)
c.4062_4063insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1355LysfsTer23)
c.3579_3580insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1194LysfsTer23)
c.3309_3310insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1104LysfsTer23)
n.3973_3974insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT
n.3958_3959insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT
n.4874_4875insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT
1g.5863922_5863923insAGCGCACCTACGACTACCTCGAGCACATGGAATTGAGCGGACTGCTCAAGCGCATCCATGAGGCTCGCACTGTGTACTGCTTCA2543593564NPHP4c.4107_4108insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1370LysfsTer23)
n.3258_3259insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT
c.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (n.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT)
n.2855_2856insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT
n.3839_3840insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT
c.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (n.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT)
c.2568_2569insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu857LysfsTer23)
c.2571_2572insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu858LysfsTer23)
n.4922_4923insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT
c.4104_4105insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1369LysfsTer23)
c.4065_4066insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1356LysfsTer23)
c.3996_3997insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1333LysfsTer23)
c.4053_4054insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1352LysfsTer23)
c.4062_4063insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1355LysfsTer23)
c.3579_3580insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1194LysfsTer23)
c.3309_3310insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1104LysfsTer23)
n.3973_3974insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT
n.3958_3959insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT
n.4874_4875insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT
1g.5863922_5863923insAGCGCACCTACGACTACCTCGAGCACATGGAACTGAGCGGACTGCTCAAGCGCATCCATGAGGCTCGCACTGTGTACTGCTTCA2561931016NPHP4c.4107_4108insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1370LysfsTer23)
n.3258_3259insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT
c.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (n.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT)
n.2855_2856insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT
n.3839_3840insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT
c.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (n.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT)
c.2568_2569insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu857LysfsTer23)
c.2571_2572insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu858LysfsTer23)
n.4922_4923insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT
c.4104_4105insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1369LysfsTer23)
c.4065_4066insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1356LysfsTer23)
c.3996_3997insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1333LysfsTer23)
c.4053_4054insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1352LysfsTer23)
c.4062_4063insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1355LysfsTer23)
c.3579_3580insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1194LysfsTer23)
c.3309_3310insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1104LysfsTer23)
n.3973_3974insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT
n.3958_3959insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT
n.4874_4875insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT
1g.5863922_5863923insGCGAAGATATTCAGCGTACCTACGACTACCTCGAGCACATGGAACTGAGCGGACTGCTCAAGCGCATCCATGAGGCTCGCACCGTGTACTGCTTCA2561929802NPHP4c.4107_4108insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1370LysfsTer23)
n.3258_3259insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC
c.*3008_*3009insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (n.*3008_*3009insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC)
n.2855_2856insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC
n.3839_3840insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC
c.*1918_*1919insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (n.*1918_*1919insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC)
c.2568_2569insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu857LysfsTer23)
c.2571_2572insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu858LysfsTer23)
n.4922_4923insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC
c.4104_4105insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1369LysfsTer23)
c.4065_4066insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1356LysfsTer23)
c.3996_3997insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1333LysfsTer23)
c.4053_4054insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1352LysfsTer23)
c.4062_4063insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1355LysfsTer23)
c.3579_3580insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1194LysfsTer23)
c.3309_3310insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1104LysfsTer23)
n.3973_3974insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC
n.3958_3959insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC
n.4874_4875insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC
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

Number of alleles fetched