Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.5887307G>ACA338058565NPHP4c.2464C>T (p.His822Tyr)
c.*1365C>T (n.*1365C>T)
c.693C>T
n.2196C>T
c.2461C>T (p.His821Tyr)
c.925C>T (p.His309Tyr)
c.928C>T (p.His310Tyr)
n.2729C>T
c.2353C>T (p.His785Tyr)
c.2410C>T (p.His804Tyr)
n.2502C>T
n.2341C>T
c.1936C>T (p.His646Tyr)
c.1666C>T (p.His556Tyr)
n.2681C>T
 dbSNP gnomAD v3 gnomAD v4
1g.5887307G>CCA338058564NPHP4c.2464C>G (p.His822Asp)
c.*1365C>G (n.*1365C>G)
c.693C>G
n.2196C>G
c.2461C>G (p.His821Asp)
c.925C>G (p.His309Asp)
c.928C>G (p.His310Asp)
n.2729C>G
c.2353C>G (p.His785Asp)
c.2410C>G (p.His804Asp)
n.2502C>G
n.2341C>G
c.1936C>G (p.His646Asp)
c.1666C>G (p.His556Asp)
n.2681C>G
1g.5887307G=CA1151225152NPHP4c.2464C= (p.His822=)
c.*1365C= (n.*1365C=)
c.693C=
n.2196C=
c.2461C= (p.His821=)
c.925C= (p.His309=)
c.928C= (p.His310=)
n.2729C=
c.2353C= (p.His785=)
c.2410C= (p.His804=)
n.2502C=
n.2341C=
c.1936C= (p.His646=)
c.1666C= (p.His556=)
n.2681C=
1g.5887307G>TCA338058563NPHP4c.2464C>A (p.His822Asn)
c.*1365C>A (n.*1365C>A)
c.693C>A
n.2196C>A
c.2461C>A (p.His821Asn)
c.925C>A (p.His309Asn)
c.928C>A (p.His310Asn)
n.2729C>A
c.2353C>A (p.His785Asn)
c.2410C>A (p.His804Asn)
n.2502C>A
n.2341C>A
c.1936C>A (p.His646Asn)
c.1666C>A (p.His556Asn)
n.2681C>A
1g.5887308C>ACA415790493NPHP4c.2463G>T (p.Leu821=)
c.*1364G>T (n.*1364G>T)
c.692G>T
n.2195G>T
c.2460G>T (p.Leu820=)
c.924G>T (p.Leu308=)
c.927G>T (p.Leu309=)
n.2728G>T
c.2352G>T (p.Leu784=)
c.2409G>T (p.Leu803=)
n.2501G>T
n.2340G>T
c.1935G>T (p.Leu645=)
c.1665G>T (p.Leu555=)
n.2680G>T
1g.5887308C>GCA415790494NPHP4c.2463G>C (p.Leu821=)
c.*1364G>C (n.*1364G>C)
c.692G>C
n.2195G>C
c.2460G>C (p.Leu820=)
c.924G>C (p.Leu308=)
c.927G>C (p.Leu309=)
n.2728G>C
c.2352G>C (p.Leu784=)
c.2409G>C (p.Leu803=)
n.2501G>C
n.2340G>C
c.1935G>C (p.Leu645=)
c.1665G>C (p.Leu555=)
n.2680G>C
1g.5887308C>TCA415790495NPHP4c.2463G>A (p.Leu821=)
c.*1364G>A (n.*1364G>A)
c.692G>A
n.2195G>A
c.2460G>A (p.Leu820=)
c.924G>A (p.Leu308=)
c.927G>A (p.Leu309=)
n.2728G>A
c.2352G>A (p.Leu784=)
c.2409G>A (p.Leu803=)
n.2501G>A
n.2340G>A
c.1935G>A (p.Leu645=)
c.1665G>A (p.Leu555=)
n.2680G>A
 gnomAD v4
1g.5887309A>CCA338058566NPHP4c.2462T>G (p.Leu821Arg)
c.*1363T>G (n.*1363T>G)
c.691T>G
n.2194T>G
c.2459T>G (p.Leu820Arg)
c.923T>G (p.Leu308Arg)
c.926T>G (p.Leu309Arg)
n.2727T>G
c.2351T>G (p.Leu784Arg)
c.2408T>G (p.Leu803Arg)
n.2500T>G
n.2339T>G
c.1934T>G (p.Leu645Arg)
c.1664T>G (p.Leu555Arg)
n.2679T>G
1g.5887309A>GCA338058567NPHP4c.2462T>C (p.Leu821Pro)
c.*1363T>C (n.*1363T>C)
c.691T>C
n.2194T>C
c.2459T>C (p.Leu820Pro)
c.923T>C (p.Leu308Pro)
c.926T>C (p.Leu309Pro)
n.2727T>C
c.2351T>C (p.Leu784Pro)
c.2408T>C (p.Leu803Pro)
n.2500T>C
n.2339T>C
c.1934T>C (p.Leu645Pro)
c.1664T>C (p.Leu555Pro)
n.2679T>C
1g.5887309A>TCA338058568NPHP4c.2462T>A (p.Leu821Gln)
c.*1363T>A (n.*1363T>A)
c.691T>A
n.2194T>A
c.2459T>A (p.Leu820Gln)
c.923T>A (p.Leu308Gln)
c.926T>A (p.Leu309Gln)
n.2727T>A
c.2351T>A (p.Leu784Gln)
c.2408T>A (p.Leu803Gln)
n.2500T>A
n.2339T>A
c.1934T>A (p.Leu645Gln)
c.1664T>A (p.Leu555Gln)
n.2679T>A
1g.5887310G>ACA554112NPHP4c.2461C>T (p.Leu821=)
c.*1362C>T (n.*1362C>T)
c.690C>T
n.2193C>T
c.2458C>T (p.Leu820=)
c.922C>T (p.Leu308=)
c.925C>T (p.Leu309=)
n.2726C>T
c.2350C>T (p.Leu784=)
c.2407C>T (p.Leu803=)
n.2499C>T
n.2338C>T
c.1933C>T (p.Leu645=)
c.1663C>T (p.Leu555=)
n.2678C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.5887310G>CCA338058569NPHP4c.2461C>G (p.Leu821Val)
c.*1362C>G (n.*1362C>G)
c.690C>G
n.2193C>G
c.2458C>G (p.Leu820Val)
c.922C>G (p.Leu308Val)
c.925C>G (p.Leu309Val)
n.2726C>G
c.2350C>G (p.Leu784Val)
c.2407C>G (p.Leu803Val)
n.2499C>G
n.2338C>G
c.1933C>G (p.Leu645Val)
c.1663C>G (p.Leu555Val)
n.2678C>G
1g.5887310G=CA1151225154NPHP4c.2461C= (p.Leu821=)
c.*1362C= (n.*1362C=)
c.690C=
n.2193C=
c.2458C= (p.Leu820=)
c.922C= (p.Leu308=)
c.925C= (p.Leu309=)
n.2726C=
c.2350C= (p.Leu784=)
c.2407C= (p.Leu803=)
n.2499C=
n.2338C=
c.1933C= (p.Leu645=)
c.1663C= (p.Leu555=)
n.2678C=
1g.5887310G>TCA338058570NPHP4c.2461C>A (p.Leu821Met)
c.*1362C>A (n.*1362C>A)
c.690C>A
n.2193C>A
c.2458C>A (p.Leu820Met)
c.922C>A (p.Leu308Met)
c.925C>A (p.Leu309Met)
n.2726C>A
c.2350C>A (p.Leu784Met)
c.2407C>A (p.Leu803Met)
n.2499C>A
n.2338C>A
c.1933C>A (p.Leu645Met)
c.1663C>A (p.Leu555Met)
n.2678C>A
1g.5887311C>ACA415790496NPHP4c.2460G>T (p.Arg820=)
c.*1361G>T (n.*1361G>T)
c.689G>T
n.2192G>T
c.2457G>T (p.Arg819=)
c.921G>T (p.Arg307=)
c.924G>T (p.Arg308=)
n.2725G>T
c.2349G>T (p.Arg783=)
c.2406G>T (p.Arg802=)
n.2498G>T
n.2337G>T
c.1932G>T (p.Arg644=)
c.1662G>T (p.Arg554=)
n.2677G>T
1g.5887311C>GCA415790497NPHP4c.2460G>C (p.Arg820=)
c.*1361G>C (n.*1361G>C)
c.689G>C
n.2192G>C
c.2457G>C (p.Arg819=)
c.921G>C (p.Arg307=)
c.924G>C (p.Arg308=)
n.2725G>C
c.2349G>C (p.Arg783=)
c.2406G>C (p.Arg802=)
n.2498G>C
n.2337G>C
c.1932G>C (p.Arg644=)
c.1662G>C (p.Arg554=)
n.2677G>C
1g.5887311C>TCA415790498NPHP4c.2460G>A (p.Arg820=)
c.*1361G>A (n.*1361G>A)
c.689G>A
n.2192G>A
c.2457G>A (p.Arg819=)
c.921G>A (p.Arg307=)
c.924G>A (p.Arg308=)
n.2725G>A
c.2349G>A (p.Arg783=)
c.2406G>A (p.Arg802=)
n.2498G>A
n.2337G>A
c.1932G>A (p.Arg644=)
c.1662G>A (p.Arg554=)
n.2677G>A
1g.5887312C>ACA338058572NPHP4c.2459G>T (p.Arg820Leu)
c.*1360G>T (n.*1360G>T)
c.688G>T
n.2191G>T
c.2456G>T (p.Arg819Leu)
c.920G>T (p.Arg307Leu)
c.923G>T (p.Arg308Leu)
n.2724G>T
c.2348G>T (p.Arg783Leu)
c.2405G>T (p.Arg802Leu)
n.2497G>T
n.2336G>T
c.1931G>T (p.Arg644Leu)
c.1661G>T (p.Arg554Leu)
n.2676G>T
 dbSNP gnomAD v2 gnomAD v4
1g.5887312C=CA1151225160NPHP4c.2459G= (p.Arg820=)
c.*1360G= (n.*1360G=)
c.688G=
n.2191G=
c.2456G= (p.Arg819=)
c.920G= (p.Arg307=)
c.923G= (p.Arg308=)
n.2724G=
c.2348G= (p.Arg783=)
c.2405G= (p.Arg802=)
n.2497G=
n.2336G=
c.1931G= (p.Arg644=)
c.1661G= (p.Arg554=)
n.2676G=
1g.5887312C>GCA338058571NPHP4c.2459G>C (p.Arg820Pro)
c.*1360G>C (n.*1360G>C)
c.688G>C
n.2191G>C
c.2456G>C (p.Arg819Pro)
c.920G>C (p.Arg307Pro)
c.923G>C (p.Arg308Pro)
n.2724G>C
c.2348G>C (p.Arg783Pro)
c.2405G>C (p.Arg802Pro)
n.2497G>C
n.2336G>C
c.1931G>C (p.Arg644Pro)
c.1661G>C (p.Arg554Pro)
n.2676G>C
1g.5887312C>TCA554113NPHP4c.2459G>A (p.Arg820Gln)
c.*1360G>A (n.*1360G>A)
c.688G>A
n.2191G>A
c.2456G>A (p.Arg819Gln)
c.920G>A (p.Arg307Gln)
c.923G>A (p.Arg308Gln)
n.2724G>A
c.2348G>A (p.Arg783Gln)
c.2405G>A (p.Arg802Gln)
n.2497G>A
n.2336G>A
c.1931G>A (p.Arg644Gln)
c.1661G>A (p.Arg554Gln)
n.2676G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5887313G>ACA554114NPHP4c.2458C>T (p.Arg820Trp)
c.*1359C>T (n.*1359C>T)
c.687C>T
n.2190C>T
c.2455C>T (p.Arg819Trp)
c.919C>T (p.Arg307Trp)
c.922C>T (p.Arg308Trp)
n.2723C>T
c.2347C>T (p.Arg783Trp)
c.2404C>T (p.Arg802Trp)
n.2496C>T
n.2335C>T
c.1930C>T (p.Arg644Trp)
c.1660C>T (p.Arg554Trp)
n.2675C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5887313G>CCA338058573NPHP4c.2458C>G (p.Arg820Gly)
c.*1359C>G (n.*1359C>G)
c.687C>G
n.2190C>G
c.2455C>G (p.Arg819Gly)
c.919C>G (p.Arg307Gly)
c.922C>G (p.Arg308Gly)
n.2723C>G
c.2347C>G (p.Arg783Gly)
c.2404C>G (p.Arg802Gly)
n.2496C>G
n.2335C>G
c.1930C>G (p.Arg644Gly)
c.1660C>G (p.Arg554Gly)
n.2675C>G
1g.5887313G=CA1143400495NPHP4c.2458C= (p.Arg820=)
c.*1359C= (n.*1359C=)
c.687C=
n.2190C=
c.2455C= (p.Arg819=)
c.919C= (p.Arg307=)
c.922C= (p.Arg308=)
n.2723C=
c.2347C= (p.Arg783=)
c.2404C= (p.Arg802=)
n.2496C=
n.2335C=
c.1930C= (p.Arg644=)
c.1660C= (p.Arg554=)
n.2675C=
1g.5887313G>TCA415790499NPHP4c.2458C>A (p.Arg820=)
c.*1359C>A (n.*1359C>A)
c.687C>A
n.2190C>A
c.2455C>A (p.Arg819=)
c.919C>A (p.Arg307=)
c.922C>A (p.Arg308=)
n.2723C>A
c.2347C>A (p.Arg783=)
c.2404C>A (p.Arg802=)
n.2496C>A
n.2335C>A
c.1930C>A (p.Arg644=)
c.1660C>A (p.Arg554=)
n.2675C>A
1g.5887314G>ACA415790500NPHP4c.2457C>T (p.Gly819=)
c.*1358C>T (n.*1358C>T)
c.686C>T
n.2189C>T
c.2454C>T (p.Gly818=)
c.918C>T (p.Gly306=)
c.921C>T (p.Gly307=)
n.2722C>T
c.2346C>T (p.Gly782=)
c.2403C>T (p.Gly801=)
n.2495C>T
n.2334C>T
c.1929C>T (p.Gly643=)
c.1659C>T (p.Gly553=)
n.2674C>T
1g.5887314G>CCA415790501NPHP4c.2457C>G (p.Gly819=)
c.*1358C>G (n.*1358C>G)
c.686C>G
n.2189C>G
c.2454C>G (p.Gly818=)
c.918C>G (p.Gly306=)
c.921C>G (p.Gly307=)
n.2722C>G
c.2346C>G (p.Gly782=)
c.2403C>G (p.Gly801=)
n.2495C>G
n.2334C>G
c.1929C>G (p.Gly643=)
c.1659C>G (p.Gly553=)
n.2674C>G
1g.5887314G>TCA415790502NPHP4c.2457C>A (p.Gly819=)
c.*1358C>A (n.*1358C>A)
c.686C>A
n.2189C>A
c.2454C>A (p.Gly818=)
c.918C>A (p.Gly306=)
c.921C>A (p.Gly307=)
n.2722C>A
c.2346C>A (p.Gly782=)
c.2403C>A (p.Gly801=)
n.2495C>A
n.2334C>A
c.1929C>A (p.Gly643=)
c.1659C>A (p.Gly553=)
n.2674C>A
 COSMIC
1g.5887315C>ACA338058574NPHP4c.2456G>T (p.Gly819Val)
c.*1357G>T (n.*1357G>T)
c.685G>T
n.2188G>T
c.2453G>T (p.Gly818Val)
c.917G>T (p.Gly306Val)
c.920G>T (p.Gly307Val)
n.2721G>T
c.2345G>T (p.Gly782Val)
c.2402G>T (p.Gly801Val)
n.2494G>T
n.2333G>T
c.1928G>T (p.Gly643Val)
c.1658G>T (p.Gly553Val)
n.2673G>T
 dbSNP gnomAD v2 gnomAD v4
1g.5887315C=CA1151225166NPHP4c.2456G= (p.Gly819=)
c.*1357G= (n.*1357G=)
c.685G=
n.2188G=
c.2453G= (p.Gly818=)
c.917G= (p.Gly306=)
c.920G= (p.Gly307=)
n.2721G=
c.2345G= (p.Gly782=)
c.2402G= (p.Gly801=)
n.2494G=
n.2333G=
c.1928G= (p.Gly643=)
c.1658G= (p.Gly553=)
n.2673G=
1g.5887315C>GCA338058575NPHP4c.2456G>C (p.Gly819Ala)
c.*1357G>C (n.*1357G>C)
c.685G>C
n.2188G>C
c.2453G>C (p.Gly818Ala)
c.917G>C (p.Gly306Ala)
c.920G>C (p.Gly307Ala)
n.2721G>C
c.2345G>C (p.Gly782Ala)
c.2402G>C (p.Gly801Ala)
n.2494G>C
n.2333G>C
c.1928G>C (p.Gly643Ala)
c.1658G>C (p.Gly553Ala)
n.2673G>C
1g.5887315C>TCA338058576NPHP4c.2456G>A (p.Gly819Asp)
c.*1357G>A (n.*1357G>A)
c.685G>A
n.2188G>A
c.2453G>A (p.Gly818Asp)
c.917G>A (p.Gly306Asp)
c.920G>A (p.Gly307Asp)
n.2721G>A
c.2345G>A (p.Gly782Asp)
c.2402G>A (p.Gly801Asp)
n.2494G>A
n.2333G>A
c.1928G>A (p.Gly643Asp)
c.1658G>A (p.Gly553Asp)
n.2673G>A
1g.5887316C>ACA338058579NPHP4c.2455G>T (p.Gly819Cys)
c.*1356G>T (n.*1356G>T)
c.684G>T
n.2187G>T
c.2452G>T (p.Gly818Cys)
c.916G>T (p.Gly306Cys)
c.919G>T (p.Gly307Cys)
n.2720G>T
c.2344G>T (p.Gly782Cys)
c.2401G>T (p.Gly801Cys)
n.2493G>T
n.2332G>T
c.1927G>T (p.Gly643Cys)
c.1657G>T (p.Gly553Cys)
n.2672G>T
1g.5887316C>GCA338058577NPHP4c.2455G>C (p.Gly819Arg)
c.*1356G>C (n.*1356G>C)
c.684G>C
n.2187G>C
c.2452G>C (p.Gly818Arg)
c.916G>C (p.Gly306Arg)
c.919G>C (p.Gly307Arg)
n.2720G>C
c.2344G>C (p.Gly782Arg)
c.2401G>C (p.Gly801Arg)
n.2493G>C
n.2332G>C
c.1927G>C (p.Gly643Arg)
c.1657G>C (p.Gly553Arg)
n.2672G>C
1g.5887316C>TCA338058578NPHP4c.2455G>A (p.Gly819Ser)
c.*1356G>A (n.*1356G>A)
c.684G>A
n.2187G>A
c.2452G>A (p.Gly818Ser)
c.916G>A (p.Gly306Ser)
c.919G>A (p.Gly307Ser)
n.2720G>A
c.2344G>A (p.Gly782Ser)
c.2401G>A (p.Gly801Ser)
n.2493G>A
n.2332G>A
c.1927G>A (p.Gly643Ser)
c.1657G>A (p.Gly553Ser)
n.2672G>A
1g.5887317C>ACA338058580NPHP4c.2454G>T (p.Lys818Asn)
c.*1355G>T (n.*1355G>T)
c.683G>T
n.2186G>T
c.2451G>T (p.Lys817Asn)
c.915G>T (p.Lys305Asn)
c.918G>T (p.Lys306Asn)
n.2719G>T
c.2343G>T (p.Lys781Asn)
c.2400G>T (p.Lys800Asn)
n.2492G>T
n.2331G>T
c.1926G>T (p.Lys642Asn)
c.1656G>T (p.Lys552Asn)
n.2671G>T
1g.5887317C>GCA338058581NPHP4c.2454G>C (p.Lys818Asn)
c.*1355G>C (n.*1355G>C)
c.683G>C
n.2186G>C
c.2451G>C (p.Lys817Asn)
c.915G>C (p.Lys305Asn)
c.918G>C (p.Lys306Asn)
n.2719G>C
c.2343G>C (p.Lys781Asn)
c.2400G>C (p.Lys800Asn)
n.2492G>C
n.2331G>C
c.1926G>C (p.Lys642Asn)
c.1656G>C (p.Lys552Asn)
n.2671G>C
 gnomAD v4
1g.5887317C>TCA415790503NPHP4c.2454G>A (p.Lys818=)
c.*1355G>A (n.*1355G>A)
c.683G>A
n.2186G>A
c.2451G>A (p.Lys817=)
c.915G>A (p.Lys305=)
c.918G>A (p.Lys306=)
n.2719G>A
c.2343G>A (p.Lys781=)
c.2400G>A (p.Lys800=)
n.2492G>A
n.2331G>A
c.1926G>A (p.Lys642=)
c.1656G>A (p.Lys552=)
n.2671G>A
1g.5887318T>ACA338058582NPHP4c.2453A>T (p.Lys818Met)
c.*1354A>T (n.*1354A>T)
c.682A>T
n.2185A>T
c.2450A>T (p.Lys817Met)
c.914A>T (p.Lys305Met)
c.917A>T (p.Lys306Met)
n.2718A>T
c.2342A>T (p.Lys781Met)
c.2399A>T (p.Lys800Met)
n.2491A>T
n.2330A>T
c.1925A>T (p.Lys642Met)
c.1655A>T (p.Lys552Met)
n.2670A>T
1g.5887318T>CCA554115NPHP4c.2453A>G (p.Lys818Arg)
c.*1354A>G (n.*1354A>G)
c.682A>G
n.2185A>G
c.2450A>G (p.Lys817Arg)
c.914A>G (p.Lys305Arg)
c.917A>G (p.Lys306Arg)
n.2718A>G
c.2342A>G (p.Lys781Arg)
c.2399A>G (p.Lys800Arg)
n.2491A>G
n.2330A>G
c.1925A>G (p.Lys642Arg)
c.1655A>G (p.Lys552Arg)
n.2670A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5887318T>GCA338058583NPHP4c.2453A>C (p.Lys818Thr)
c.*1354A>C (n.*1354A>C)
c.682A>C
n.2185A>C
c.2450A>C (p.Lys817Thr)
c.914A>C (p.Lys305Thr)
c.917A>C (p.Lys306Thr)
n.2718A>C
c.2342A>C (p.Lys781Thr)
c.2399A>C (p.Lys800Thr)
n.2491A>C
n.2330A>C
c.1925A>C (p.Lys642Thr)
c.1655A>C (p.Lys552Thr)
n.2670A>C
1g.5887318T=CA1151225170NPHP4c.2453A= (p.Lys818=)
c.*1354A= (n.*1354A=)
c.682A=
n.2185A=
c.2450A= (p.Lys817=)
c.914A= (p.Lys305=)
c.917A= (p.Lys306=)
n.2718A=
c.2342A= (p.Lys781=)
c.2399A= (p.Lys800=)
n.2491A=
n.2330A=
c.1925A= (p.Lys642=)
c.1655A= (p.Lys552=)
n.2670A=
1g.5887319T>ACA338058584NPHP4c.2452A>T (p.Lys818Ter)
c.*1353A>T (n.*1353A>T)
c.681A>T
n.2184A>T
c.2449A>T (p.Lys817Ter)
c.913A>T (p.Lys305Ter)
c.916A>T (p.Lys306Ter)
n.2717A>T
c.2341A>T (p.Lys781Ter)
c.2398A>T (p.Lys800Ter)
n.2490A>T
n.2329A>T
c.1924A>T (p.Lys642Ter)
c.1654A>T (p.Lys552Ter)
n.2669A>T
1g.5887319T>CCA338058585NPHP4c.2452A>G (p.Lys818Glu)
c.*1353A>G (n.*1353A>G)
c.681A>G
n.2184A>G
c.2449A>G (p.Lys817Glu)
c.913A>G (p.Lys305Glu)
c.916A>G (p.Lys306Glu)
n.2717A>G
c.2341A>G (p.Lys781Glu)
c.2398A>G (p.Lys800Glu)
n.2490A>G
n.2329A>G
c.1924A>G (p.Lys642Glu)
c.1654A>G (p.Lys552Glu)
n.2669A>G
1g.5887319T>GCA338058586NPHP4c.2452A>C (p.Lys818Gln)
c.*1353A>C (n.*1353A>C)
c.681A>C
n.2184A>C
c.2449A>C (p.Lys817Gln)
c.913A>C (p.Lys305Gln)
c.916A>C (p.Lys306Gln)
n.2717A>C
c.2341A>C (p.Lys781Gln)
c.2398A>C (p.Lys800Gln)
n.2490A>C
n.2329A>C
c.1924A>C (p.Lys642Gln)
c.1654A>C (p.Lys552Gln)
n.2669A>C
1g.5887320C>ACA554116NPHP4c.2451G>T (p.Val817=)
c.*1352G>T (n.*1352G>T)
c.680G>T
n.2183G>T
c.2448G>T (p.Val816=)
c.912G>T (p.Val304=)
c.915G>T (p.Val305=)
n.2716G>T
c.2340G>T (p.Val780=)
c.2397G>T (p.Val799=)
n.2489G>T
n.2328G>T
c.1923G>T (p.Val641=)
c.1653G>T (p.Val551=)
n.2668G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.5887320C=CA1151225175NPHP4c.2451G= (p.Val817=)
c.*1352G= (n.*1352G=)
c.680G=
n.2183G=
c.2448G= (p.Val816=)
c.912G= (p.Val304=)
c.915G= (p.Val305=)
n.2716G=
c.2340G= (p.Val780=)
c.2397G= (p.Val799=)
n.2489G=
n.2328G=
c.1923G= (p.Val641=)
c.1653G= (p.Val551=)
n.2668G=
1g.5887320C>GCA415790504NPHP4c.2451G>C (p.Val817=)
c.*1352G>C (n.*1352G>C)
c.680G>C
n.2183G>C
c.2448G>C (p.Val816=)
c.912G>C (p.Val304=)
c.915G>C (p.Val305=)
n.2716G>C
c.2340G>C (p.Val780=)
c.2397G>C (p.Val799=)
n.2489G>C
n.2328G>C
c.1923G>C (p.Val641=)
c.1653G>C (p.Val551=)
n.2668G>C
1g.5887320C>TCA415790505NPHP4c.2451G>A (p.Val817=)
c.*1352G>A (n.*1352G>A)
c.680G>A
n.2183G>A
c.2448G>A (p.Val816=)
c.912G>A (p.Val304=)
c.915G>A (p.Val305=)
n.2716G>A
c.2340G>A (p.Val780=)
c.2397G>A (p.Val799=)
n.2489G>A
n.2328G>A
c.1923G>A (p.Val641=)
c.1653G>A (p.Val551=)
n.2668G>A
1g.5887324_5887326delCA2574188186NPHP4c.2449_2451del (p.Val817del)
c.*1350_*1352del (n.*1350_*1352del)
c.678_680del
n.2181_2183del
c.2446_2448del (p.Val816del)
c.910_912del (p.Val304del)
c.913_915del (p.Val305del)
n.2714_2716del
c.2338_2340del (p.Val780del)
c.2395_2397del (p.Val799del)
n.2487_2489del
n.2326_2328del
c.1921_1923del (p.Val641del)
c.1651_1653del (p.Val551del)
n.2666_2668del
1g.5887321A=CA1151225178NPHP4c.2450T= (p.Val817=)
c.*1351T= (n.*1351T=)
c.679T=
n.2182T=
c.2447T= (p.Val816=)
c.911T= (p.Val304=)
c.914T= (p.Val305=)
n.2715T=
c.2339T= (p.Val780=)
c.2396T= (p.Val799=)
n.2488T=
n.2327T=
c.1922T= (p.Val641=)
c.1652T= (p.Val551=)
n.2667T=
1g.5887321A>CCA338058587NPHP4c.2450T>G (p.Val817Gly)
c.*1351T>G (n.*1351T>G)
c.679T>G
n.2182T>G
c.2447T>G (p.Val816Gly)
c.911T>G (p.Val304Gly)
c.914T>G (p.Val305Gly)
n.2715T>G
c.2339T>G (p.Val780Gly)
c.2396T>G (p.Val799Gly)
n.2488T>G
n.2327T>G
c.1922T>G (p.Val641Gly)
c.1652T>G (p.Val551Gly)
n.2667T>G
1g.5887321A>GCA338058588NPHP4c.2450T>C (p.Val817Ala)
c.*1351T>C (n.*1351T>C)
c.679T>C
n.2182T>C
c.2447T>C (p.Val816Ala)
c.911T>C (p.Val304Ala)
c.914T>C (p.Val305Ala)
n.2715T>C
c.2339T>C (p.Val780Ala)
c.2396T>C (p.Val799Ala)
n.2488T>C
n.2327T>C
c.1922T>C (p.Val641Ala)
c.1652T>C (p.Val551Ala)
n.2667T>C
1g.5887321A>TCA338058589NPHP4c.2450T>A (p.Val817Glu)
c.*1351T>A (n.*1351T>A)
c.679T>A
n.2182T>A
c.2447T>A (p.Val816Glu)
c.911T>A (p.Val304Glu)
c.914T>A (p.Val305Glu)
n.2715T>A
c.2339T>A (p.Val780Glu)
c.2396T>A (p.Val799Glu)
n.2488T>A
n.2327T>A
c.1922T>A (p.Val641Glu)
c.1652T>A (p.Val551Glu)
n.2667T>A
 dbSNP
1g.5887322C>ACA338058592NPHP4c.2449G>T (p.Val817Leu)
c.*1350G>T (n.*1350G>T)
c.678G>T
n.2181G>T
c.2446G>T (p.Val816Leu)
c.910G>T (p.Val304Leu)
c.913G>T (p.Val305Leu)
n.2714G>T
c.2338G>T (p.Val780Leu)
c.2395G>T (p.Val799Leu)
n.2487G>T
n.2326G>T
c.1921G>T (p.Val641Leu)
c.1651G>T (p.Val551Leu)
n.2666G>T
1g.5887322C=CA1151225180NPHP4c.2449G= (p.Val817=)
c.*1350G= (n.*1350G=)
c.678G=
n.2181G=
c.2446G= (p.Val816=)
c.910G= (p.Val304=)
c.913G= (p.Val305=)
n.2714G=
c.2338G= (p.Val780=)
c.2395G= (p.Val799=)
n.2487G=
n.2326G=
c.1921G= (p.Val641=)
c.1651G= (p.Val551=)
n.2666G=
1g.5887322C>GCA338058590NPHP4c.2449G>C (p.Val817Leu)
c.*1350G>C (n.*1350G>C)
c.678G>C
n.2181G>C
c.2446G>C (p.Val816Leu)
c.910G>C (p.Val304Leu)
c.913G>C (p.Val305Leu)
n.2714G>C
c.2338G>C (p.Val780Leu)
c.2395G>C (p.Val799Leu)
n.2487G>C
n.2326G>C
c.1921G>C (p.Val641Leu)
c.1651G>C (p.Val551Leu)
n.2666G>C
1g.5887322C>TCA338058591NPHP4c.2449G>A (p.Val817Met)
c.*1350G>A (n.*1350G>A)
c.678G>A
n.2181G>A
c.2446G>A (p.Val816Met)
c.910G>A (p.Val304Met)
c.913G>A (p.Val305Met)
n.2714G>A
c.2338G>A (p.Val780Met)
c.2395G>A (p.Val799Met)
n.2487G>A
n.2326G>A
c.1921G>A (p.Val641Met)
c.1651G>A (p.Val551Met)
n.2666G>A
 dbSNP
1g.5887323C>ACA415790506NPHP4c.2448G>T (p.Val816=)
c.*1349G>T (n.*1349G>T)
c.677G>T
n.2180G>T
c.2445G>T (p.Val815=)
c.909G>T (p.Val303=)
c.912G>T (p.Val304=)
n.2713G>T
c.2337G>T (p.Val779=)
c.2394G>T (p.Val798=)
n.2486G>T
n.2325G>T
c.1920G>T (p.Val640=)
c.1650G>T (p.Val550=)
n.2665G>T
1g.5887323C>GCA415790507NPHP4c.2448G>C (p.Val816=)
c.*1349G>C (n.*1349G>C)
c.677G>C
n.2180G>C
c.2445G>C (p.Val815=)
c.909G>C (p.Val303=)
c.912G>C (p.Val304=)
n.2713G>C
c.2337G>C (p.Val779=)
c.2394G>C (p.Val798=)
n.2486G>C
n.2325G>C
c.1920G>C (p.Val640=)
c.1650G>C (p.Val550=)
n.2665G>C
 gnomAD v4
1g.5887323C>TCA415790508NPHP4c.2448G>A (p.Val816=)
c.*1349G>A (n.*1349G>A)
c.677G>A
n.2180G>A
c.2445G>A (p.Val815=)
c.909G>A (p.Val303=)
c.912G>A (p.Val304=)
n.2713G>A
c.2337G>A (p.Val779=)
c.2394G>A (p.Val798=)
n.2486G>A
n.2325G>A
c.1920G>A (p.Val640=)
c.1650G>A (p.Val550=)
n.2665G>A
1g.5887324A=CA1151225183NPHP4c.2447T= (p.Val816=)
c.*1348T= (n.*1348T=)
c.676T=
n.2179T=
c.2444T= (p.Val815=)
c.908T= (p.Val303=)
c.911T= (p.Val304=)
n.2712T=
c.2336T= (p.Val779=)
c.2393T= (p.Val798=)
n.2485T=
n.2324T=
c.1919T= (p.Val640=)
c.1649T= (p.Val550=)
n.2664T=
1g.5887324A>CCA338058593NPHP4c.2447T>G (p.Val816Gly)
c.*1348T>G (n.*1348T>G)
c.676T>G
n.2179T>G
c.2444T>G (p.Val815Gly)
c.908T>G (p.Val303Gly)
c.911T>G (p.Val304Gly)
n.2712T>G
c.2336T>G (p.Val779Gly)
c.2393T>G (p.Val798Gly)
n.2485T>G
n.2324T>G
c.1919T>G (p.Val640Gly)
c.1649T>G (p.Val550Gly)
n.2664T>G
1g.5887324A>GCA338058594NPHP4c.2447T>C (p.Val816Ala)
c.*1348T>C (n.*1348T>C)
c.676T>C
n.2179T>C
c.2444T>C (p.Val815Ala)
c.908T>C (p.Val303Ala)
c.911T>C (p.Val304Ala)
n.2712T>C
c.2336T>C (p.Val779Ala)
c.2393T>C (p.Val798Ala)
n.2485T>C
n.2324T>C
c.1919T>C (p.Val640Ala)
c.1649T>C (p.Val550Ala)
n.2664T>C
1g.5887324A>TCA338058595NPHP4c.2447T>A (p.Val816Glu)
c.*1348T>A (n.*1348T>A)
c.676T>A
n.2179T>A
c.2444T>A (p.Val815Glu)
c.908T>A (p.Val303Glu)
c.911T>A (p.Val304Glu)
n.2712T>A
c.2336T>A (p.Val779Glu)
c.2393T>A (p.Val798Glu)
n.2485T>A
n.2324T>A
c.1919T>A (p.Val640Glu)
c.1649T>A (p.Val550Glu)
n.2664T>A
 ClinVar dbSNP gnomAD v4
1g.5887325C>ACA338058596NPHP4c.2446G>T (p.Val816Leu)
c.*1347G>T (n.*1347G>T)
c.675G>T
n.2178G>T
c.2443G>T (p.Val815Leu)
c.907G>T (p.Val303Leu)
c.910G>T (p.Val304Leu)
n.2711G>T
c.2335G>T (p.Val779Leu)
c.2392G>T (p.Val798Leu)
n.2484G>T
n.2323G>T
c.1918G>T (p.Val640Leu)
c.1648G>T (p.Val550Leu)
n.2663G>T
1g.5887325C=CA1151225184NPHP4c.2446G= (p.Val816=)
c.*1347G= (n.*1347G=)
c.675G=
n.2178G=
c.2443G= (p.Val815=)
c.907G= (p.Val303=)
c.910G= (p.Val304=)
n.2711G=
c.2335G= (p.Val779=)
c.2392G= (p.Val798=)
n.2484G=
n.2323G=
c.1918G= (p.Val640=)
c.1648G= (p.Val550=)
n.2663G=
1g.5887325C>GCA338058597NPHP4c.2446G>C (p.Val816Leu)
c.*1347G>C (n.*1347G>C)
c.675G>C
n.2178G>C
c.2443G>C (p.Val815Leu)
c.907G>C (p.Val303Leu)
c.910G>C (p.Val304Leu)
n.2711G>C
c.2335G>C (p.Val779Leu)
c.2392G>C (p.Val798Leu)
n.2484G>C
n.2323G>C
c.1918G>C (p.Val640Leu)
c.1648G>C (p.Val550Leu)
n.2663G>C
1g.5887325C>TCA338058598NPHP4c.2446G>A (p.Val816Met)
c.*1347G>A (n.*1347G>A)
c.675G>A
n.2178G>A
c.2443G>A (p.Val815Met)
c.907G>A (p.Val303Met)
c.910G>A (p.Val304Met)
n.2711G>A
c.2335G>A (p.Val779Met)
c.2392G>A (p.Val798Met)
n.2484G>A
n.2323G>A
c.1918G>A (p.Val640Met)
c.1648G>A (p.Val550Met)
n.2663G>A
 dbSNP gnomAD v4
1g.5887326C>ACA415790509NPHP4c.2445G>T (p.Ser815=)
c.*1346G>T (n.*1346G>T)
c.674G>T
n.2177G>T
c.2442G>T (p.Ser814=)
c.906G>T (p.Ser302=)
c.909G>T (p.Ser303=)
n.2710G>T
c.2334G>T (p.Ser778=)
c.2391G>T (p.Ser797=)
n.2483G>T
n.2322G>T
c.1917G>T (p.Ser639=)
c.1647G>T (p.Ser549=)
n.2662G>T
 dbSNP gnomAD v3 gnomAD v4
1g.5887326C=CA1151225187NPHP4c.2445G= (p.Ser815=)
c.*1346G= (n.*1346G=)
c.674G=
n.2177G=
c.2442G= (p.Ser814=)
c.906G= (p.Ser302=)
c.909G= (p.Ser303=)
n.2710G=
c.2334G= (p.Ser778=)
c.2391G= (p.Ser797=)
n.2483G=
n.2322G=
c.1917G= (p.Ser639=)
c.1647G= (p.Ser549=)
n.2662G=
1g.5887326C>GCA415790510NPHP4c.2445G>C (p.Ser815=)
c.*1346G>C (n.*1346G>C)
c.674G>C
n.2177G>C
c.2442G>C (p.Ser814=)
c.906G>C (p.Ser302=)
c.909G>C (p.Ser303=)
n.2710G>C
c.2334G>C (p.Ser778=)
c.2391G>C (p.Ser797=)
n.2483G>C
n.2322G>C
c.1917G>C (p.Ser639=)
c.1647G>C (p.Ser549=)
n.2662G>C
1g.5887326C>TCA554117NPHP4c.2445G>A (p.Ser815=)
c.*1346G>A (n.*1346G>A)
c.674G>A
n.2177G>A
c.2442G>A (p.Ser814=)
c.906G>A (p.Ser302=)
c.909G>A (p.Ser303=)
n.2710G>A
c.2334G>A (p.Ser778=)
c.2391G>A (p.Ser797=)
n.2483G>A
n.2322G>A
c.1917G>A (p.Ser639=)
c.1647G>A (p.Ser549=)
n.2662G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5887327G>ACA17147345NPHP4c.2444C>T (p.Ser815Leu)
c.*1345C>T (n.*1345C>T)
c.673C>T
n.2176C>T
c.2441C>T (p.Ser814Leu)
c.905C>T (p.Ser302Leu)
c.908C>T (p.Ser303Leu)
n.2709C>T
c.2333C>T (p.Ser778Leu)
c.2390C>T (p.Ser797Leu)
n.2482C>T
n.2321C>T
c.1916C>T (p.Ser639Leu)
c.1646C>T (p.Ser549Leu)
n.2661C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.5887327G>CCA338058599NPHP4c.2444C>G (p.Ser815Trp)
c.*1345C>G (n.*1345C>G)
c.673C>G
n.2176C>G
c.2441C>G (p.Ser814Trp)
c.905C>G (p.Ser302Trp)
c.908C>G (p.Ser303Trp)
n.2709C>G
c.2333C>G (p.Ser778Trp)
c.2390C>G (p.Ser797Trp)
n.2482C>G
n.2321C>G
c.1916C>G (p.Ser639Trp)
c.1646C>G (p.Ser549Trp)
n.2661C>G
1g.5887327G=CA1143530007NPHP4c.2444C= (p.Ser815=)
c.*1345C= (n.*1345C=)
c.673C=
n.2176C=
c.2441C= (p.Ser814=)
c.905C= (p.Ser302=)
c.908C= (p.Ser303=)
n.2709C=
c.2333C= (p.Ser778=)
c.2390C= (p.Ser797=)
n.2482C=
n.2321C=
c.1916C= (p.Ser639=)
c.1646C= (p.Ser549=)
n.2661C=
1g.5887327G>TCA338058600NPHP4c.2444C>A (p.Ser815Ter)
c.*1345C>A (n.*1345C>A)
c.673C>A
n.2176C>A
c.2441C>A (p.Ser814Ter)
c.905C>A (p.Ser302Ter)
c.908C>A (p.Ser303Ter)
n.2709C>A
c.2333C>A (p.Ser778Ter)
c.2390C>A (p.Ser797Ter)
n.2482C>A
n.2321C>A
c.1916C>A (p.Ser639Ter)
c.1646C>A (p.Ser549Ter)
n.2661C>A
1g.5887327dupCA916081990NPHP4c.2444dup (p.Val816GlyfsTer18)
c.*1345dup (n.*1345dup)
c.673dup
n.2176dup
c.2441dup (p.Val815GlyfsTer18)
c.905dup (p.Val303GlyfsTer18)
c.908dup (p.Val304GlyfsTer18)
n.2709dup
c.2333dup (p.Val779GlyfsTer18)
c.2390dup (p.Val798GlyfsTer18)
n.2482dup
n.2321dup
c.1916dup (p.Val640GlyfsTer18)
c.1646dup (p.Val550GlyfsTer18)
n.2661dup
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.5887328A>CCA338058601NPHP4c.2443T>G (p.Ser815Ala)
c.*1344T>G (n.*1344T>G)
c.672T>G
n.2175T>G
c.2440T>G (p.Ser814Ala)
c.904T>G (p.Ser302Ala)
c.907T>G (p.Ser303Ala)
n.2708T>G
c.2332T>G (p.Ser778Ala)
c.2389T>G (p.Ser797Ala)
n.2481T>G
n.2320T>G
c.1915T>G (p.Ser639Ala)
c.1645T>G (p.Ser549Ala)
n.2660T>G
1g.5887328A>GCA338058602NPHP4c.2443T>C (p.Ser815Pro)
c.*1344T>C (n.*1344T>C)
c.672T>C
n.2175T>C
c.2440T>C (p.Ser814Pro)
c.904T>C (p.Ser302Pro)
c.907T>C (p.Ser303Pro)
n.2708T>C
c.2332T>C (p.Ser778Pro)
c.2389T>C (p.Ser797Pro)
n.2481T>C
n.2320T>C
c.1915T>C (p.Ser639Pro)
c.1645T>C (p.Ser549Pro)
n.2660T>C
1g.5887328A>TCA338058603NPHP4c.2443T>A (p.Ser815Thr)
c.*1344T>A (n.*1344T>A)
c.672T>A
n.2175T>A
c.2440T>A (p.Ser814Thr)
c.904T>A (p.Ser302Thr)
c.907T>A (p.Ser303Thr)
n.2708T>A
c.2332T>A (p.Ser778Thr)
c.2389T>A (p.Ser797Thr)
n.2481T>A
n.2320T>A
c.1915T>A (p.Ser639Thr)
c.1645T>A (p.Ser549Thr)
n.2660T>A
1g.5887329G>ACA415790511NPHP4c.2442C>T (p.His814=)
c.*1343C>T (n.*1343C>T)
c.671C>T
n.2174C>T
c.2439C>T (p.His813=)
c.903C>T (p.His301=)
c.906C>T (p.His302=)
n.2707C>T
c.2331C>T (p.His777=)
c.2388C>T (p.His796=)
n.2480C>T
n.2319C>T
c.1914C>T (p.His638=)
c.1644C>T (p.His548=)
n.2659C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.5887329G>CCA338058605NPHP4c.2442C>G (p.His814Gln)
c.*1343C>G (n.*1343C>G)
c.671C>G
n.2174C>G
c.2439C>G (p.His813Gln)
c.903C>G (p.His301Gln)
c.906C>G (p.His302Gln)
n.2707C>G
c.2331C>G (p.His777Gln)
c.2388C>G (p.His796Gln)
n.2480C>G
n.2319C>G
c.1914C>G (p.His638Gln)
c.1644C>G (p.His548Gln)
n.2659C>G
 dbSNP gnomAD v2
1g.5887329G=CA1151225191NPHP4c.2442C= (p.His814=)
c.*1343C= (n.*1343C=)
c.671C=
n.2174C=
c.2439C= (p.His813=)
c.903C= (p.His301=)
c.906C= (p.His302=)
n.2707C=
c.2331C= (p.His777=)
c.2388C= (p.His796=)
n.2480C=
n.2319C=
c.1914C= (p.His638=)
c.1644C= (p.His548=)
n.2659C=
1g.5887329G>TCA338058604NPHP4c.2442C>A (p.His814Gln)
c.*1343C>A (n.*1343C>A)
c.671C>A
n.2174C>A
c.2439C>A (p.His813Gln)
c.903C>A (p.His301Gln)
c.906C>A (p.His302Gln)
n.2707C>A
c.2331C>A (p.His777Gln)
c.2388C>A (p.His796Gln)
n.2480C>A
n.2319C>A
c.1914C>A (p.His638Gln)
c.1644C>A (p.His548Gln)
n.2659C>A
1g.5887330T>ACA338058606NPHP4c.2441A>T (p.His814Leu)
c.*1342A>T (n.*1342A>T)
c.670A>T
n.2173A>T
c.2438A>T (p.His813Leu)
c.902A>T (p.His301Leu)
c.905A>T (p.His302Leu)
n.2706A>T
c.2330A>T (p.His777Leu)
c.2387A>T (p.His796Leu)
n.2479A>T
n.2318A>T
c.1913A>T (p.His638Leu)
c.1643A>T (p.His548Leu)
n.2658A>T
1g.5887330T>CCA338058607NPHP4c.2441A>G (p.His814Arg)
c.*1342A>G (n.*1342A>G)
c.670A>G
n.2173A>G
c.2438A>G (p.His813Arg)
c.902A>G (p.His301Arg)
c.905A>G (p.His302Arg)
n.2706A>G
c.2330A>G (p.His777Arg)
c.2387A>G (p.His796Arg)
n.2479A>G
n.2318A>G
c.1913A>G (p.His638Arg)
c.1643A>G (p.His548Arg)
n.2658A>G
1g.5887330T>GCA338058608NPHP4c.2441A>C (p.His814Pro)
c.*1342A>C (n.*1342A>C)
c.670A>C
n.2173A>C
c.2438A>C (p.His813Pro)
c.902A>C (p.His301Pro)
c.905A>C (p.His302Pro)
n.2706A>C
c.2330A>C (p.His777Pro)
c.2387A>C (p.His796Pro)
n.2479A>C
n.2318A>C
c.1913A>C (p.His638Pro)
c.1643A>C (p.His548Pro)
n.2658A>C
1g.5887331G>ACA554118NPHP4c.2440C>T (p.His814Tyr)
c.*1341C>T (n.*1341C>T)
c.669C>T
n.2172C>T
c.2437C>T (p.His813Tyr)
c.901C>T (p.His301Tyr)
c.904C>T (p.His302Tyr)
n.2705C>T
c.2329C>T (p.His777Tyr)
c.2386C>T (p.His796Tyr)
n.2478C>T
n.2317C>T
c.1912C>T (p.His638Tyr)
c.1642C>T (p.His548Tyr)
n.2657C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.5887331G>CCA554119NPHP4c.2440C>G (p.His814Asp)
c.*1341C>G (n.*1341C>G)
c.669C>G
n.2172C>G
c.2437C>G (p.His813Asp)
c.901C>G (p.His301Asp)
c.904C>G (p.His302Asp)
n.2705C>G
c.2329C>G (p.His777Asp)
c.2386C>G (p.His796Asp)
n.2478C>G
n.2317C>G
c.1912C>G (p.His638Asp)
c.1642C>G (p.His548Asp)
n.2657C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5887331G=CA1151225193NPHP4c.2440C= (p.His814=)
c.*1341C= (n.*1341C=)
c.669C=
n.2172C=
c.2437C= (p.His813=)
c.901C= (p.His301=)
c.904C= (p.His302=)
n.2705C=
c.2329C= (p.His777=)
c.2386C= (p.His796=)
n.2478C=
n.2317C=
c.1912C= (p.His638=)
c.1642C= (p.His548=)
n.2657C=
1g.5887331G>TCA338058609NPHP4c.2440C>A (p.His814Asn)
c.*1341C>A (n.*1341C>A)
c.669C>A
n.2172C>A
c.2437C>A (p.His813Asn)
c.901C>A (p.His301Asn)
c.904C>A (p.His302Asn)
n.2705C>A
c.2329C>A (p.His777Asn)
c.2386C>A (p.His796Asn)
n.2478C>A
n.2317C>A
c.1912C>A (p.His638Asn)
c.1642C>A (p.His548Asn)
n.2657C>A
1g.5887332G>ACA415790512NPHP4c.2439C>T (p.Val813=)
c.*1340C>T (n.*1340C>T)
c.668C>T
n.2171C>T
c.2436C>T (p.Val812=)
c.900C>T (p.Val300=)
c.903C>T (p.Val301=)
n.2704C>T
c.2328C>T (p.Val776=)
c.2385C>T (p.Val795=)
n.2477C>T
n.2316C>T
c.1911C>T (p.Val637=)
c.1641C>T (p.Val547=)
n.2656C>T
 COSMIC
1g.5887332G>CCA415790513NPHP4c.2439C>G (p.Val813=)
c.*1340C>G (n.*1340C>G)
c.668C>G
n.2171C>G
c.2436C>G (p.Val812=)
c.900C>G (p.Val300=)
c.903C>G (p.Val301=)
n.2704C>G
c.2328C>G (p.Val776=)
c.2385C>G (p.Val795=)
n.2477C>G
n.2316C>G
c.1911C>G (p.Val637=)
c.1641C>G (p.Val547=)
n.2656C>G
1g.5887332G>TCA415790514NPHP4c.2439C>A (p.Val813=)
c.*1340C>A (n.*1340C>A)
c.668C>A
n.2171C>A
c.2436C>A (p.Val812=)
c.900C>A (p.Val300=)
c.903C>A (p.Val301=)
n.2704C>A
c.2328C>A (p.Val776=)
c.2385C>A (p.Val795=)
n.2477C>A
n.2316C>A
c.1911C>A (p.Val637=)
c.1641C>A (p.Val547=)
n.2656C>A
1g.5887333A>CCA338058610NPHP4c.2438T>G (p.Val813Gly)
c.*1339T>G (n.*1339T>G)
c.667T>G
n.2170T>G
c.2435T>G (p.Val812Gly)
c.899T>G (p.Val300Gly)
c.902T>G (p.Val301Gly)
n.2703T>G
c.2327T>G (p.Val776Gly)
c.2384T>G (p.Val795Gly)
n.2476T>G
n.2315T>G
c.1910T>G (p.Val637Gly)
c.1640T>G (p.Val547Gly)
n.2655T>G
1g.5887333A>GCA338058611NPHP4c.2438T>C (p.Val813Ala)
c.*1339T>C (n.*1339T>C)
c.667T>C
n.2170T>C
c.2435T>C (p.Val812Ala)
c.899T>C (p.Val300Ala)
c.902T>C (p.Val301Ala)
n.2703T>C
c.2327T>C (p.Val776Ala)
c.2384T>C (p.Val795Ala)
n.2476T>C
n.2315T>C
c.1910T>C (p.Val637Ala)
c.1640T>C (p.Val547Ala)
n.2655T>C
1g.5887333A>TCA338058612NPHP4c.2438T>A (p.Val813Asp)
c.*1339T>A (n.*1339T>A)
c.667T>A
n.2170T>A
c.2435T>A (p.Val812Asp)
c.899T>A (p.Val300Asp)
c.902T>A (p.Val301Asp)
n.2703T>A
c.2327T>A (p.Val776Asp)
c.2384T>A (p.Val795Asp)
n.2476T>A
n.2315T>A
c.1910T>A (p.Val637Asp)
c.1640T>A (p.Val547Asp)
n.2655T>A
1g.5887334C>ACA338058613NPHP4c.2437G>T (p.Val813Phe)
c.*1338G>T (n.*1338G>T)
c.666G>T
n.2169G>T
c.2434G>T (p.Val812Phe)
c.898G>T (p.Val300Phe)
c.901G>T (p.Val301Phe)
n.2702G>T
c.2326G>T (p.Val776Phe)
c.2383G>T (p.Val795Phe)
n.2475G>T
n.2314G>T
c.1909G>T (p.Val637Phe)
c.1639G>T (p.Val547Phe)
n.2654G>T
1g.5887334C=CA1151225198NPHP4c.2437G= (p.Val813=)
c.*1338G= (n.*1338G=)
c.666G=
n.2169G=
c.2434G= (p.Val812=)
c.898G= (p.Val300=)
c.901G= (p.Val301=)
n.2702G=
c.2326G= (p.Val776=)
c.2383G= (p.Val795=)
n.2475G=
n.2314G=
c.1909G= (p.Val637=)
c.1639G= (p.Val547=)
n.2654G=
1g.5887334C>GCA338058614NPHP4c.2437G>C (p.Val813Leu)
c.*1338G>C (n.*1338G>C)
c.666G>C
n.2169G>C
c.2434G>C (p.Val812Leu)
c.898G>C (p.Val300Leu)
c.901G>C (p.Val301Leu)
n.2702G>C
c.2326G>C (p.Val776Leu)
c.2383G>C (p.Val795Leu)
n.2475G>C
n.2314G>C
c.1909G>C (p.Val637Leu)
c.1639G>C (p.Val547Leu)
n.2654G>C
1g.5887334C>TCA554120NPHP4c.2437G>A (p.Val813Ile)
c.*1338G>A (n.*1338G>A)
c.666G>A
n.2169G>A
c.2434G>A (p.Val812Ile)
c.898G>A (p.Val300Ile)
c.901G>A (p.Val301Ile)
n.2702G>A
c.2326G>A (p.Val776Ile)
c.2383G>A (p.Val795Ile)
n.2475G>A
n.2314G>A
c.1909G>A (p.Val637Ile)
c.1639G>A (p.Val547Ile)
n.2654G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5887335G>ACA554121NPHP4c.2436C>T (p.Gly812=)
c.*1337C>T (n.*1337C>T)
c.665C>T
n.2168C>T
c.2433C>T (p.Gly811=)
c.897C>T (p.Gly299=)
c.900C>T (p.Gly300=)
n.2701C>T
c.2325C>T (p.Gly775=)
c.2382C>T (p.Gly794=)
n.2474C>T
n.2313C>T
c.1908C>T (p.Gly636=)
c.1638C>T (p.Gly546=)
n.2653C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5887335G>CCA415790515NPHP4c.2436C>G (p.Gly812=)
c.*1337C>G (n.*1337C>G)
c.665C>G
n.2168C>G
c.2433C>G (p.Gly811=)
c.897C>G (p.Gly299=)
c.900C>G (p.Gly300=)
n.2701C>G
c.2325C>G (p.Gly775=)
c.2382C>G (p.Gly794=)
n.2474C>G
n.2313C>G
c.1908C>G (p.Gly636=)
c.1638C>G (p.Gly546=)
n.2653C>G
1g.5887335G=CA1144143351NPHP4c.2436C= (p.Gly812=)
c.*1337C= (n.*1337C=)
c.665C=
n.2168C=
c.2433C= (p.Gly811=)
c.897C= (p.Gly299=)
c.900C= (p.Gly300=)
n.2701C=
c.2325C= (p.Gly775=)
c.2382C= (p.Gly794=)
n.2474C=
n.2313C=
c.1908C= (p.Gly636=)
c.1638C= (p.Gly546=)
n.2653C=
1g.5887335G>TCA415790516NPHP4c.2436C>A (p.Gly812=)
c.*1337C>A (n.*1337C>A)
c.665C>A
n.2168C>A
c.2433C>A (p.Gly811=)
c.897C>A (p.Gly299=)
c.900C>A (p.Gly300=)
n.2701C>A
c.2325C>A (p.Gly775=)
c.2382C>A (p.Gly794=)
n.2474C>A
n.2313C>A
c.1908C>A (p.Gly636=)
c.1638C>A (p.Gly546=)
n.2653C>A
 gnomAD v4
1g.5887336C>ACA338058615NPHP4c.2435G>T (p.Gly812Val)
c.*1336G>T (n.*1336G>T)
c.664G>T
n.2167G>T
c.2432G>T (p.Gly811Val)
c.896G>T (p.Gly299Val)
c.899G>T (p.Gly300Val)
n.2700G>T
c.2324G>T (p.Gly775Val)
c.2381G>T (p.Gly794Val)
n.2473G>T
n.2312G>T
c.1907G>T (p.Gly636Val)
c.1637G>T (p.Gly546Val)
n.2652G>T
1g.5887336C>GCA338058617NPHP4c.2435G>C (p.Gly812Ala)
c.*1336G>C (n.*1336G>C)
c.664G>C
n.2167G>C
c.2432G>C (p.Gly811Ala)
c.896G>C (p.Gly299Ala)
c.899G>C (p.Gly300Ala)
n.2700G>C
c.2324G>C (p.Gly775Ala)
c.2381G>C (p.Gly794Ala)
n.2473G>C
n.2312G>C
c.1907G>C (p.Gly636Ala)
c.1637G>C (p.Gly546Ala)
n.2652G>C
1g.5887336C>TCA338058616NPHP4c.2435G>A (p.Gly812Asp)
c.*1336G>A (n.*1336G>A)
c.664G>A
n.2167G>A
c.2432G>A (p.Gly811Asp)
c.896G>A (p.Gly299Asp)
c.899G>A (p.Gly300Asp)
n.2700G>A
c.2324G>A (p.Gly775Asp)
c.2381G>A (p.Gly794Asp)
n.2473G>A
n.2312G>A
c.1907G>A (p.Gly636Asp)
c.1637G>A (p.Gly546Asp)
n.2652G>A
 ClinVar gnomAD v4
1g.5887337C>ACA338058618NPHP4c.2434G>T (p.Gly812Cys)
c.*1335G>T (n.*1335G>T)
c.663G>T
n.2166G>T
c.2431G>T (p.Gly811Cys)
c.895G>T (p.Gly299Cys)
c.898G>T (p.Gly300Cys)
n.2699G>T
c.2323G>T (p.Gly775Cys)
c.2380G>T (p.Gly794Cys)
n.2472G>T
n.2311G>T
c.1906G>T (p.Gly636Cys)
c.1636G>T (p.Gly546Cys)
n.2651G>T
1g.5887337C=CA1151225204NPHP4c.2434G= (p.Gly812=)
c.*1335G= (n.*1335G=)
c.663G=
n.2166G=
c.2431G= (p.Gly811=)
c.895G= (p.Gly299=)
c.898G= (p.Gly300=)
n.2699G=
c.2323G= (p.Gly775=)
c.2380G= (p.Gly794=)
n.2472G=
n.2311G=
c.1906G= (p.Gly636=)
c.1636G= (p.Gly546=)
n.2651G=
1g.5887337C>GCA338058619NPHP4c.2434G>C (p.Gly812Arg)
c.*1335G>C (n.*1335G>C)
c.663G>C
n.2166G>C
c.2431G>C (p.Gly811Arg)
c.895G>C (p.Gly299Arg)
c.898G>C (p.Gly300Arg)
n.2699G>C
c.2323G>C (p.Gly775Arg)
c.2380G>C (p.Gly794Arg)
n.2472G>C
n.2311G>C
c.1906G>C (p.Gly636Arg)
c.1636G>C (p.Gly546Arg)
n.2651G>C
1g.5887337C>TCA554122NPHP4c.2434G>A (p.Gly812Ser)
c.*1335G>A (n.*1335G>A)
c.663G>A
n.2166G>A
c.2431G>A (p.Gly811Ser)
c.895G>A (p.Gly299Ser)
c.898G>A (p.Gly300Ser)
n.2699G>A
c.2323G>A (p.Gly775Ser)
c.2380G>A (p.Gly794Ser)
n.2472G>A
n.2311G>A
c.1906G>A (p.Gly636Ser)
c.1636G>A (p.Gly546Ser)
n.2651G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.5887338G>ACA554123NPHP4c.2433C>T (p.Ile811=)
c.*1334C>T (n.*1334C>T)
c.662C>T
n.2165C>T
c.2430C>T (p.Ile810=)
c.894C>T (p.Ile298=)
c.897C>T (p.Ile299=)
n.2698C>T
c.2322C>T (p.Ile774=)
c.2379C>T (p.Ile793=)
n.2471C>T
n.2310C>T
c.1905C>T (p.Ile635=)
c.1635C>T (p.Ile545=)
n.2650C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5887338G>CCA338058620NPHP4c.2433C>G (p.Ile811Met)
c.*1334C>G (n.*1334C>G)
c.662C>G
n.2165C>G
c.2430C>G (p.Ile810Met)
c.894C>G (p.Ile298Met)
c.897C>G (p.Ile299Met)
n.2698C>G
c.2322C>G (p.Ile774Met)
c.2379C>G (p.Ile793Met)
n.2471C>G
n.2310C>G
c.1905C>G (p.Ile635Met)
c.1635C>G (p.Ile545Met)
n.2650C>G
 gnomAD v4
1g.5887338G=CA1151225211NPHP4c.2433C= (p.Ile811=)
c.*1334C= (n.*1334C=)
c.662C=
n.2165C=
c.2430C= (p.Ile810=)
c.894C= (p.Ile298=)
c.897C= (p.Ile299=)
n.2698C=
c.2322C= (p.Ile774=)
c.2379C= (p.Ile793=)
n.2471C=
n.2310C=
c.1905C= (p.Ile635=)
c.1635C= (p.Ile545=)
n.2650C=
1g.5887338G>TCA415790517NPHP4c.2433C>A (p.Ile811=)
c.*1334C>A (n.*1334C>A)
c.662C>A
n.2165C>A
c.2430C>A (p.Ile810=)
c.894C>A (p.Ile298=)
c.897C>A (p.Ile299=)
n.2698C>A
c.2322C>A (p.Ile774=)
c.2379C>A (p.Ile793=)
n.2471C>A
n.2310C>A
c.1905C>A (p.Ile635=)
c.1635C>A (p.Ile545=)
n.2650C>A
 dbSNP
1g.5887339A>CCA338058621NPHP4c.2432T>G (p.Ile811Ser)
c.*1333T>G (n.*1333T>G)
c.661T>G
n.2164T>G
c.2429T>G (p.Ile810Ser)
c.893T>G (p.Ile298Ser)
c.896T>G (p.Ile299Ser)
n.2697T>G
c.2321T>G (p.Ile774Ser)
c.2378T>G (p.Ile793Ser)
n.2470T>G
n.2309T>G
c.1904T>G (p.Ile635Ser)
c.1634T>G (p.Ile545Ser)
n.2649T>G
1g.5887339A>GCA338058622NPHP4c.2432T>C (p.Ile811Thr)
c.*1333T>C (n.*1333T>C)
c.661T>C
n.2164T>C
c.2429T>C (p.Ile810Thr)
c.893T>C (p.Ile298Thr)
c.896T>C (p.Ile299Thr)
n.2697T>C
c.2321T>C (p.Ile774Thr)
c.2378T>C (p.Ile793Thr)
n.2470T>C
n.2309T>C
c.1904T>C (p.Ile635Thr)
c.1634T>C (p.Ile545Thr)
n.2649T>C
1g.5887339A>TCA338058623NPHP4c.2432T>A (p.Ile811Asn)
c.*1333T>A (n.*1333T>A)
c.661T>A
n.2164T>A
c.2429T>A (p.Ile810Asn)
c.893T>A (p.Ile298Asn)
c.896T>A (p.Ile299Asn)
n.2697T>A
c.2321T>A (p.Ile774Asn)
c.2378T>A (p.Ile793Asn)
n.2470T>A
n.2309T>A
c.1904T>A (p.Ile635Asn)
c.1634T>A (p.Ile545Asn)
n.2649T>A
1g.5887340T>ACA17147350NPHP4c.2431A>T (p.Ile811Phe)
c.*1332A>T (n.*1332A>T)
c.660A>T
n.2163A>T
c.2428A>T (p.Ile810Phe)
c.892A>T (p.Ile298Phe)
c.895A>T (p.Ile299Phe)
n.2696A>T
c.2320A>T (p.Ile774Phe)
c.2377A>T (p.Ile793Phe)
n.2469A>T
n.2308A>T
c.1903A>T (p.Ile635Phe)
c.1633A>T (p.Ile545Phe)
n.2648A>T
 dbSNP gnomAD v4
1g.5887340T>CCA338058624NPHP4c.2431A>G (p.Ile811Val)
c.*1332A>G (n.*1332A>G)
c.660A>G
n.2163A>G
c.2428A>G (p.Ile810Val)
c.892A>G (p.Ile298Val)
c.895A>G (p.Ile299Val)
n.2696A>G
c.2320A>G (p.Ile774Val)
c.2377A>G (p.Ile793Val)
n.2469A>G
n.2308A>G
c.1903A>G (p.Ile635Val)
c.1633A>G (p.Ile545Val)
n.2648A>G
 gnomAD v4
1g.5887340T>GCA554124NPHP4c.2431A>C (p.Ile811Leu)
c.*1332A>C (n.*1332A>C)
c.660A>C
n.2163A>C
c.2428A>C (p.Ile810Leu)
c.892A>C (p.Ile298Leu)
c.895A>C (p.Ile299Leu)
n.2696A>C
c.2320A>C (p.Ile774Leu)
c.2377A>C (p.Ile793Leu)
n.2469A>C
n.2308A>C
c.1903A>C (p.Ile635Leu)
c.1633A>C (p.Ile545Leu)
n.2648A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5887340T=CA1151225213NPHP4c.2431A= (p.Ile811=)
c.*1332A= (n.*1332A=)
c.660A=
n.2163A=
c.2428A= (p.Ile810=)
c.892A= (p.Ile298=)
c.895A= (p.Ile299=)
n.2696A=
c.2320A= (p.Ile774=)
c.2377A= (p.Ile793=)
n.2469A=
n.2308A=
c.1903A= (p.Ile635=)
c.1633A= (p.Ile545=)
n.2648A=
1g.5887341G>ACA415790518NPHP4c.2430C>T (p.Pro810=)
c.*1331C>T (n.*1331C>T)
c.659C>T
n.2162C>T
c.2427C>T (p.Pro809=)
c.891C>T (p.Pro297=)
c.894C>T (p.Pro298=)
n.2695C>T
c.2319C>T (p.Pro773=)
c.2376C>T (p.Pro792=)
n.2468C>T
n.2307C>T
c.1902C>T (p.Pro634=)
c.1632C>T (p.Pro544=)
n.2647C>T
1g.5887341G>CCA415790519NPHP4c.2430C>G (p.Pro810=)
c.*1331C>G (n.*1331C>G)
c.659C>G
n.2162C>G
c.2427C>G (p.Pro809=)
c.891C>G (p.Pro297=)
c.894C>G (p.Pro298=)
n.2695C>G
c.2319C>G (p.Pro773=)
c.2376C>G (p.Pro792=)
n.2468C>G
n.2307C>G
c.1902C>G (p.Pro634=)
c.1632C>G (p.Pro544=)
n.2647C>G
1g.5887341G>TCA415790520NPHP4c.2430C>A (p.Pro810=)
c.*1331C>A (n.*1331C>A)
c.659C>A
n.2162C>A
c.2427C>A (p.Pro809=)
c.891C>A (p.Pro297=)
c.894C>A (p.Pro298=)
n.2695C>A
c.2319C>A (p.Pro773=)
c.2376C>A (p.Pro792=)
n.2468C>A
n.2307C>A
c.1902C>A (p.Pro634=)
c.1632C>A (p.Pro544=)
n.2647C>A
1g.5887342G>ACA554125NPHP4c.2429C>T (p.Pro810Leu)
c.*1330C>T (n.*1330C>T)
c.658C>T
n.2161C>T
c.2426C>T (p.Pro809Leu)
c.890C>T (p.Pro297Leu)
c.893C>T (p.Pro298Leu)
n.2694C>T
c.2318C>T (p.Pro773Leu)
c.2375C>T (p.Pro792Leu)
n.2467C>T
n.2306C>T
c.1901C>T (p.Pro634Leu)
c.1631C>T (p.Pro544Leu)
n.2646C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5887342G>CCA554126NPHP4c.2429C>G (p.Pro810Arg)
c.*1330C>G (n.*1330C>G)
c.658C>G
n.2161C>G
c.2426C>G (p.Pro809Arg)
c.890C>G (p.Pro297Arg)
c.893C>G (p.Pro298Arg)
n.2694C>G
c.2318C>G (p.Pro773Arg)
c.2375C>G (p.Pro792Arg)
n.2467C>G
n.2306C>G
c.1901C>G (p.Pro634Arg)
c.1631C>G (p.Pro544Arg)
n.2646C>G
 dbSNP ExAC gnomAD v2
1g.5887342G=CA1148073706NPHP4c.2429C= (p.Pro810=)
c.*1330C= (n.*1330C=)
c.658C=
n.2161C=
c.2426C= (p.Pro809=)
c.890C= (p.Pro297=)
c.893C= (p.Pro298=)
n.2694C=
c.2318C= (p.Pro773=)
c.2375C= (p.Pro792=)
n.2467C=
n.2306C=
c.1901C= (p.Pro634=)
c.1631C= (p.Pro544=)
n.2646C=
1g.5887342G>TCA338058625NPHP4c.2429C>A (p.Pro810His)
c.*1330C>A (n.*1330C>A)
c.658C>A
n.2161C>A
c.2426C>A (p.Pro809His)
c.890C>A (p.Pro297His)
c.893C>A (p.Pro298His)
n.2694C>A
c.2318C>A (p.Pro773His)
c.2375C>A (p.Pro792His)
n.2467C>A
n.2306C>A
c.1901C>A (p.Pro634His)
c.1631C>A (p.Pro544His)
n.2646C>A
1g.5887343G>ACA338058626NPHP4c.2428C>T (p.Pro810Ser)
c.*1329C>T (n.*1329C>T)
c.657C>T
n.2160C>T
c.2425C>T (p.Pro809Ser)
c.889C>T (p.Pro297Ser)
c.892C>T (p.Pro298Ser)
n.2693C>T
c.2317C>T (p.Pro773Ser)
c.2374C>T (p.Pro792Ser)
n.2466C>T
n.2305C>T
c.1900C>T (p.Pro634Ser)
c.1630C>T (p.Pro544Ser)
n.2645C>T
 dbSNP gnomAD v3 gnomAD v4
1g.5887343G>CCA338058627NPHP4c.2428C>G (p.Pro810Ala)
c.*1329C>G (n.*1329C>G)
c.657C>G
n.2160C>G
c.2425C>G (p.Pro809Ala)
c.889C>G (p.Pro297Ala)
c.892C>G (p.Pro298Ala)
n.2693C>G
c.2317C>G (p.Pro773Ala)
c.2374C>G (p.Pro792Ala)
n.2466C>G
n.2305C>G
c.1900C>G (p.Pro634Ala)
c.1630C>G (p.Pro544Ala)
n.2645C>G
 ClinVar dbSNP
1g.5887343G=CA1151225220NPHP4c.2428C= (p.Pro810=)
c.*1329C= (n.*1329C=)
c.657C=
n.2160C=
c.2425C= (p.Pro809=)
c.889C= (p.Pro297=)
c.892C= (p.Pro298=)
n.2693C=
c.2317C= (p.Pro773=)
c.2374C= (p.Pro792=)
n.2466C=
n.2305C=
c.1900C= (p.Pro634=)
c.1630C= (p.Pro544=)
n.2645C=
1g.5887343G>TCA338058628NPHP4c.2428C>A (p.Pro810Thr)
c.*1329C>A (n.*1329C>A)
c.657C>A
n.2160C>A
c.2425C>A (p.Pro809Thr)
c.889C>A (p.Pro297Thr)
c.892C>A (p.Pro298Thr)
n.2693C>A
c.2317C>A (p.Pro773Thr)
c.2374C>A (p.Pro792Thr)
n.2466C>A
n.2305C>A
c.1900C>A (p.Pro634Thr)
c.1630C>A (p.Pro544Thr)
n.2645C>A
1g.5887344C>ACA338058630NPHP4c.2427G>T (p.Lys809Asn)
c.*1328G>T (n.*1328G>T)
c.656G>T
n.2159G>T
c.2424G>T (p.Lys808Asn)
c.888G>T (p.Lys296Asn)
c.891G>T (p.Lys297Asn)
n.2692G>T
c.2316G>T (p.Lys772Asn)
c.2373G>T (p.Lys791Asn)
n.2465G>T
n.2304G>T
c.1899G>T (p.Lys633Asn)
c.1629G>T (p.Lys543Asn)
n.2644G>T
1g.5887344C=CA1151225227NPHP4c.2427G= (p.Lys809=)
c.*1328G= (n.*1328G=)
c.656G=
n.2159G=
c.2424G= (p.Lys808=)
c.888G= (p.Lys296=)
c.891G= (p.Lys297=)
n.2692G=
c.2316G= (p.Lys772=)
c.2373G= (p.Lys791=)
n.2465G=
n.2304G=
c.1899G= (p.Lys633=)
c.1629G= (p.Lys543=)
n.2644G=
1g.5887344C>GCA338058629NPHP4c.2427G>C (p.Lys809Asn)
c.*1328G>C (n.*1328G>C)
c.656G>C
n.2159G>C
c.2424G>C (p.Lys808Asn)
c.888G>C (p.Lys296Asn)
c.891G>C (p.Lys297Asn)
n.2692G>C
c.2316G>C (p.Lys772Asn)
c.2373G>C (p.Lys791Asn)
n.2465G>C
n.2304G>C
c.1899G>C (p.Lys633Asn)
c.1629G>C (p.Lys543Asn)
n.2644G>C
1g.5887344C>TCA415790521NPHP4c.2427G>A (p.Lys809=)
c.*1328G>A (n.*1328G>A)
c.656G>A
n.2159G>A
c.2424G>A (p.Lys808=)
c.888G>A (p.Lys296=)
c.891G>A (p.Lys297=)
n.2692G>A
c.2316G>A (p.Lys772=)
c.2373G>A (p.Lys791=)
n.2465G>A
n.2304G>A
c.1899G>A (p.Lys633=)
c.1629G>A (p.Lys543=)
n.2644G>A
 dbSNP gnomAD v3 gnomAD v4
1g.5887344_5887345dupCA1151225226NPHP4c.2426_2427dup (p.Pro810SerfsTer9)
c.*1327_*1328dup (n.*1327_*1328dup)
c.655_656dup
n.2158_2159dup
c.2423_2424dup (p.Pro809SerfsTer9)
c.887_888dup (p.Pro297SerfsTer9)
c.890_891dup (p.Pro298SerfsTer9)
n.2691_2692dup
c.2315_2316dup (p.Pro773SerfsTer9)
c.2372_2373dup (p.Pro792SerfsTer9)
n.2464_2465dup
n.2303_2304dup
c.1898_1899dup (p.Pro634SerfsTer9)
c.1628_1629dup (p.Pro544SerfsTer9)
n.2643_2644dup
 dbSNP
1g.5887345T>ACA554128NPHP4c.2426A>T (p.Lys809Met)
c.*1327A>T (n.*1327A>T)
c.655A>T
n.2158A>T
c.2423A>T (p.Lys808Met)
c.887A>T (p.Lys296Met)
c.890A>T (p.Lys297Met)
n.2691A>T
c.2315A>T (p.Lys772Met)
c.2372A>T (p.Lys791Met)
n.2464A>T
n.2303A>T
c.1898A>T (p.Lys633Met)
c.1628A>T (p.Lys543Met)
n.2643A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5887345T>CCA554127NPHP4c.2426A>G (p.Lys809Arg)
c.*1327A>G (n.*1327A>G)
c.655A>G
n.2158A>G
c.2423A>G (p.Lys808Arg)
c.887A>G (p.Lys296Arg)
c.890A>G (p.Lys297Arg)
n.2691A>G
c.2315A>G (p.Lys772Arg)
c.2372A>G (p.Lys791Arg)
n.2464A>G
n.2303A>G
c.1898A>G (p.Lys633Arg)
c.1628A>G (p.Lys543Arg)
n.2643A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5887345T>GCA338058631NPHP4c.2426A>C (p.Lys809Thr)
c.*1327A>C (n.*1327A>C)
c.655A>C
n.2158A>C
c.2423A>C (p.Lys808Thr)
c.887A>C (p.Lys296Thr)
c.890A>C (p.Lys297Thr)
n.2691A>C
c.2315A>C (p.Lys772Thr)
c.2372A>C (p.Lys791Thr)
n.2464A>C
n.2303A>C
c.1898A>C (p.Lys633Thr)
c.1628A>C (p.Lys543Thr)
n.2643A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.5887345T=CA1148711493NPHP4c.2426A= (p.Lys809=)
c.*1327A= (n.*1327A=)
c.655A=
n.2158A=
c.2423A= (p.Lys808=)
c.887A= (p.Lys296=)
c.890A= (p.Lys297=)
n.2691A=
c.2315A= (p.Lys772=)
c.2372A= (p.Lys791=)
n.2464A=
n.2303A=
c.1898A= (p.Lys633=)
c.1628A= (p.Lys543=)
n.2643A=
1g.5887346T>ACA338058632NPHP4c.2425A>T (p.Lys809Ter)
c.*1326A>T (n.*1326A>T)
c.654A>T
n.2157A>T
c.2422A>T (p.Lys808Ter)
c.886A>T (p.Lys296Ter)
c.889A>T (p.Lys297Ter)
n.2690A>T
c.2314A>T (p.Lys772Ter)
c.2371A>T (p.Lys791Ter)
n.2463A>T
n.2302A>T
c.1897A>T (p.Lys633Ter)
c.1627A>T (p.Lys543Ter)
n.2642A>T
1g.5887346T>CCA241061NPHP4c.2425A>G (p.Lys809Glu)
c.*1326A>G (n.*1326A>G)
c.654A>G
n.2157A>G
c.2422A>G (p.Lys808Glu)
c.886A>G (p.Lys296Glu)
c.889A>G (p.Lys297Glu)
n.2690A>G
c.2314A>G (p.Lys772Glu)
c.2371A>G (p.Lys791Glu)
n.2463A>G
n.2302A>G
c.1897A>G (p.Lys633Glu)
c.1627A>G (p.Lys543Glu)
n.2642A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5887346T>GCA338058633NPHP4c.2425A>C (p.Lys809Gln)
c.*1326A>C (n.*1326A>C)
c.654A>C
n.2157A>C
c.2422A>C (p.Lys808Gln)
c.886A>C (p.Lys296Gln)
c.889A>C (p.Lys297Gln)
n.2690A>C
c.2314A>C (p.Lys772Gln)
c.2371A>C (p.Lys791Gln)
n.2463A>C
n.2302A>C
c.1897A>C (p.Lys633Gln)
c.1627A>C (p.Lys543Gln)
n.2642A>C
1g.5887346T=CA1143794581NPHP4c.2425A= (p.Lys809=)
c.*1326A= (n.*1326A=)
c.654A=
n.2157A=
c.2422A= (p.Lys808=)
c.886A= (p.Lys296=)
c.889A= (p.Lys297=)
n.2690A=
c.2314A= (p.Lys772=)
c.2371A= (p.Lys791=)
n.2463A=
n.2302A=
c.1897A= (p.Lys633=)
c.1627A= (p.Lys543=)
n.2642A=
1g.5887347G>ACA415790522NPHP4c.2424C>T (p.Val808=)
c.*1325C>T (n.*1325C>T)
c.653C>T
n.2156C>T
c.2421C>T (p.Val807=)
c.885C>T (p.Val295=)
c.888C>T (p.Val296=)
n.2689C>T
c.2313C>T (p.Val771=)
c.2370C>T (p.Val790=)
n.2462C>T
n.2301C>T
c.1896C>T (p.Val632=)
c.1626C>T (p.Val542=)
n.2641C>T
1g.5887347G>CCA415790524NPHP4c.2424C>G (p.Val808=)
c.*1325C>G (n.*1325C>G)
c.653C>G
n.2156C>G
c.2421C>G (p.Val807=)
c.885C>G (p.Val295=)
c.888C>G (p.Val296=)
n.2689C>G
c.2313C>G (p.Val771=)
c.2370C>G (p.Val790=)
n.2462C>G
n.2301C>G
c.1896C>G (p.Val632=)
c.1626C>G (p.Val542=)
n.2641C>G
1g.5887347G>TCA415790523NPHP4c.2424C>A (p.Val808=)
c.*1325C>A (n.*1325C>A)
c.653C>A
n.2156C>A
c.2421C>A (p.Val807=)
c.885C>A (p.Val295=)
c.888C>A (p.Val296=)
n.2689C>A
c.2313C>A (p.Val771=)
c.2370C>A (p.Val790=)
n.2462C>A
n.2301C>A
c.1896C>A (p.Val632=)
c.1626C>A (p.Val542=)
n.2641C>A
1g.5887348A>CCA338058634NPHP4c.2423T>G (p.Val808Gly)
c.*1324T>G (n.*1324T>G)
c.652T>G
n.2155T>G
c.2420T>G (p.Val807Gly)
c.884T>G (p.Val295Gly)
c.887T>G (p.Val296Gly)
n.2688T>G
c.2312T>G (p.Val771Gly)
c.2369T>G (p.Val790Gly)
n.2461T>G
n.2300T>G
c.1895T>G (p.Val632Gly)
c.1625T>G (p.Val542Gly)
n.2640T>G
1g.5887348A>GCA338058635NPHP4c.2423T>C (p.Val808Ala)
c.*1324T>C (n.*1324T>C)
c.652T>C
n.2155T>C
c.2420T>C (p.Val807Ala)
c.884T>C (p.Val295Ala)
c.887T>C (p.Val296Ala)
n.2688T>C
c.2312T>C (p.Val771Ala)
c.2369T>C (p.Val790Ala)
n.2461T>C
n.2300T>C
c.1895T>C (p.Val632Ala)
c.1625T>C (p.Val542Ala)
n.2640T>C
1g.5887348A>TCA338058636NPHP4c.2423T>A (p.Val808Asp)
c.*1324T>A (n.*1324T>A)
c.652T>A
n.2155T>A
c.2420T>A (p.Val807Asp)
c.884T>A (p.Val295Asp)
c.887T>A (p.Val296Asp)
n.2688T>A
c.2312T>A (p.Val771Asp)
c.2369T>A (p.Val790Asp)
n.2461T>A
n.2300T>A
c.1895T>A (p.Val632Asp)
c.1625T>A (p.Val542Asp)
n.2640T>A
1g.5887349C>ACA338058637NPHP4c.2422G>T (p.Val808Phe)
c.*1323G>T (n.*1323G>T)
c.651G>T
n.2154G>T
c.2419G>T (p.Val807Phe)
c.883G>T (p.Val295Phe)
c.886G>T (p.Val296Phe)
n.2687G>T
c.2311G>T (p.Val771Phe)
c.2368G>T (p.Val790Phe)
n.2460G>T
n.2299G>T
c.1894G>T (p.Val632Phe)
c.1624G>T (p.Val542Phe)
n.2639G>T
 dbSNP
1g.5887349C=CA1151225237NPHP4c.2422G= (p.Val808=)
c.*1323G= (n.*1323G=)
c.651G=
n.2154G=
c.2419G= (p.Val807=)
c.883G= (p.Val295=)
c.886G= (p.Val296=)
n.2687G=
c.2311G= (p.Val771=)
c.2368G= (p.Val790=)
n.2460G=
n.2299G=
c.1894G= (p.Val632=)
c.1624G= (p.Val542=)
n.2639G=
1g.5887349C>GCA338058638NPHP4c.2422G>C (p.Val808Leu)
c.*1323G>C (n.*1323G>C)
c.651G>C
n.2154G>C
c.2419G>C (p.Val807Leu)
c.883G>C (p.Val295Leu)
c.886G>C (p.Val296Leu)
n.2687G>C
c.2311G>C (p.Val771Leu)
c.2368G>C (p.Val790Leu)
n.2460G>C
n.2299G>C
c.1894G>C (p.Val632Leu)
c.1624G>C (p.Val542Leu)
n.2639G>C
1g.5887349C>TCA338058639NPHP4c.2422G>A (p.Val808Ile)
c.*1323G>A (n.*1323G>A)
c.651G>A
n.2154G>A
c.2419G>A (p.Val807Ile)
c.883G>A (p.Val295Ile)
c.886G>A (p.Val296Ile)
n.2687G>A
c.2311G>A (p.Val771Ile)
c.2368G>A (p.Val790Ile)
n.2460G>A
n.2299G>A
c.1894G>A (p.Val632Ile)
c.1624G>A (p.Val542Ile)
n.2639G>A
 dbSNP gnomAD v2 gnomAD v4
1g.5887350G>ACA554129NPHP4c.2421C>T (p.Arg807=)
c.*1322C>T (n.*1322C>T)
c.650C>T
n.2153C>T
c.2418C>T (p.Arg806=)
c.882C>T (p.Arg294=)
c.885C>T (p.Arg295=)
n.2686C>T
c.2310C>T (p.Arg770=)
c.2367C>T (p.Arg789=)
n.2459C>T
n.2298C>T
c.1893C>T (p.Arg631=)
c.1623C>T (p.Arg541=)
n.2638C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5887350G>CCA415790525NPHP4c.2421C>G (p.Arg807=)
c.*1322C>G (n.*1322C>G)
c.650C>G
n.2153C>G
c.2418C>G (p.Arg806=)
c.882C>G (p.Arg294=)
c.885C>G (p.Arg295=)
n.2686C>G
c.2310C>G (p.Arg770=)
c.2367C>G (p.Arg789=)
n.2459C>G
n.2298C>G
c.1893C>G (p.Arg631=)
c.1623C>G (p.Arg541=)
n.2638C>G
1g.5887350G=CA1148419798NPHP4c.2421C= (p.Arg807=)
c.*1322C= (n.*1322C=)
c.650C=
n.2153C=
c.2418C= (p.Arg806=)
c.882C= (p.Arg294=)
c.885C= (p.Arg295=)
n.2686C=
c.2310C= (p.Arg770=)
c.2367C= (p.Arg789=)
n.2459C=
n.2298C=
c.1893C= (p.Arg631=)
c.1623C= (p.Arg541=)
n.2638C=
1g.5887350G>TCA415790526NPHP4c.2421C>A (p.Arg807=)
c.*1322C>A (n.*1322C>A)
c.650C>A
n.2153C>A
c.2418C>A (p.Arg806=)
c.882C>A (p.Arg294=)
c.885C>A (p.Arg295=)
n.2686C>A
c.2310C>A (p.Arg770=)
c.2367C>A (p.Arg789=)
n.2459C>A
n.2298C>A
c.1893C>A (p.Arg631=)
c.1623C>A (p.Arg541=)
n.2638C>A
1g.5887351C>ACA338058641NPHP4c.2420G>T (p.Arg807Leu)
c.*1321G>T (n.*1321G>T)
c.649G>T
n.2152G>T
c.2417G>T (p.Arg806Leu)
c.881G>T (p.Arg294Leu)
c.884G>T (p.Arg295Leu)
n.2685G>T
c.2309G>T (p.Arg770Leu)
c.2366G>T (p.Arg789Leu)
n.2458G>T
n.2297G>T
c.1892G>T (p.Arg631Leu)
c.1622G>T (p.Arg541Leu)
n.2637G>T
1g.5887351C=CA1144101883NPHP4c.2420G= (p.Arg807=)
c.*1321G= (n.*1321G=)
c.649G=
n.2152G=
c.2417G= (p.Arg806=)
c.881G= (p.Arg294=)
c.884G= (p.Arg295=)
n.2685G=
c.2309G= (p.Arg770=)
c.2366G= (p.Arg789=)
n.2458G=
n.2297G=
c.1892G= (p.Arg631=)
c.1622G= (p.Arg541=)
n.2637G=
1g.5887351C>GCA338058640NPHP4c.2420G>C (p.Arg807Pro)
c.*1321G>C (n.*1321G>C)
c.649G>C
n.2152G>C
c.2417G>C (p.Arg806Pro)
c.881G>C (p.Arg294Pro)
c.884G>C (p.Arg295Pro)
n.2685G>C
c.2309G>C (p.Arg770Pro)
c.2366G>C (p.Arg789Pro)
n.2458G>C
n.2297G>C
c.1892G>C (p.Arg631Pro)
c.1622G>C (p.Arg541Pro)
n.2637G>C
1g.5887351C>TCA17147378NPHP4c.2420G>A (p.Arg807His)
c.*1321G>A (n.*1321G>A)
c.649G>A
n.2152G>A
c.2417G>A (p.Arg806His)
c.881G>A (p.Arg294His)
c.884G>A (p.Arg295His)
n.2685G>A
c.2309G>A (p.Arg770His)
c.2366G>A (p.Arg789His)
n.2458G>A
n.2297G>A
c.1892G>A (p.Arg631His)
c.1622G>A (p.Arg541His)
n.2637G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.5887352G>ACA554130NPHP4c.2419C>T (p.Arg807Cys)
c.*1320C>T (n.*1320C>T)
c.648C>T
n.2151C>T
c.2416C>T (p.Arg806Cys)
c.880C>T (p.Arg294Cys)
c.883C>T (p.Arg295Cys)
n.2684C>T
c.2308C>T (p.Arg770Cys)
c.2365C>T (p.Arg789Cys)
n.2457C>T
n.2296C>T
c.1891C>T (p.Arg631Cys)
c.1621C>T (p.Arg541Cys)
n.2636C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5887352G>CCA338058642NPHP4c.2419C>G (p.Arg807Gly)
c.*1320C>G (n.*1320C>G)
c.648C>G
n.2151C>G
c.2416C>G (p.Arg806Gly)
c.880C>G (p.Arg294Gly)
c.883C>G (p.Arg295Gly)
n.2684C>G
c.2308C>G (p.Arg770Gly)
c.2365C>G (p.Arg789Gly)
n.2457C>G
n.2296C>G
c.1891C>G (p.Arg631Gly)
c.1621C>G (p.Arg541Gly)
n.2636C>G
1g.5887352G=CA1151225254NPHP4c.2419C= (p.Arg807=)
c.*1320C= (n.*1320C=)
c.648C=
n.2151C=
c.2416C= (p.Arg806=)
c.880C= (p.Arg294=)
c.883C= (p.Arg295=)
n.2684C=
c.2308C= (p.Arg770=)
c.2365C= (p.Arg789=)
n.2457C=
n.2296C=
c.1891C= (p.Arg631=)
c.1621C= (p.Arg541=)
n.2636C=
1g.5887352G>TCA338058643NPHP4c.2419C>A (p.Arg807Ser)
c.*1320C>A (n.*1320C>A)
c.648C>A
n.2151C>A
c.2416C>A (p.Arg806Ser)
c.880C>A (p.Arg294Ser)
c.883C>A (p.Arg295Ser)
n.2684C>A
c.2308C>A (p.Arg770Ser)
c.2365C>A (p.Arg789Ser)
n.2457C>A
n.2296C>A
c.1891C>A (p.Arg631Ser)
c.1621C>A (p.Arg541Ser)
n.2636C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.5887353G>ACA415790527NPHP4c.2418C>T (p.Gly806=)
c.*1319C>T (n.*1319C>T)
c.647C>T
n.2150C>T
c.2415C>T (p.Gly805=)
c.879C>T (p.Gly293=)
c.882C>T (p.Gly294=)
n.2683C>T
c.2307C>T (p.Gly769=)
c.2364C>T (p.Gly788=)
n.2456C>T
n.2295C>T
c.1890C>T (p.Gly630=)
c.1620C>T (p.Gly540=)
n.2635C>T
 dbSNP COSMIC
1g.5887353G>CCA415790528NPHP4c.2418C>G (p.Gly806=)
c.*1319C>G (n.*1319C>G)
c.647C>G
n.2150C>G
c.2415C>G (p.Gly805=)
c.879C>G (p.Gly293=)
c.882C>G (p.Gly294=)
n.2683C>G
c.2307C>G (p.Gly769=)
c.2364C>G (p.Gly788=)
n.2456C>G
n.2295C>G
c.1890C>G (p.Gly630=)
c.1620C>G (p.Gly540=)
n.2635C>G
1g.5887353G=CA1151225259NPHP4c.2418C= (p.Gly806=)
c.*1319C= (n.*1319C=)
c.647C=
n.2150C=
c.2415C= (p.Gly805=)
c.879C= (p.Gly293=)
c.882C= (p.Gly294=)
n.2683C=
c.2307C= (p.Gly769=)
c.2364C= (p.Gly788=)
n.2456C=
n.2295C=
c.1890C= (p.Gly630=)
c.1620C= (p.Gly540=)
n.2635C=
1g.5887353G>TCA415790529NPHP4c.2418C>A (p.Gly806=)
c.*1319C>A (n.*1319C>A)
c.647C>A
n.2150C>A
c.2415C>A (p.Gly805=)
c.879C>A (p.Gly293=)
c.882C>A (p.Gly294=)
n.2683C>A
c.2307C>A (p.Gly769=)
c.2364C>A (p.Gly788=)
n.2456C>A
n.2295C>A
c.1890C>A (p.Gly630=)
c.1620C>A (p.Gly540=)
n.2635C>A
1g.5887354C>ACA338058644NPHP4c.2417G>T (p.Gly806Val)
c.*1318G>T (n.*1318G>T)
c.646G>T
n.2149G>T
c.2414G>T (p.Gly805Val)
c.878G>T (p.Gly293Val)
c.881G>T (p.Gly294Val)
n.2682G>T
c.2306G>T (p.Gly769Val)
c.2363G>T (p.Gly788Val)
n.2455G>T
n.2294G>T
c.1889G>T (p.Gly630Val)
c.1619G>T (p.Gly540Val)
n.2634G>T
 dbSNP
1g.5887354C=CA1151225262NPHP4c.2417G= (p.Gly806=)
c.*1318G= (n.*1318G=)
c.646G=
n.2149G=
c.2414G= (p.Gly805=)
c.878G= (p.Gly293=)
c.881G= (p.Gly294=)
n.2682G=
c.2306G= (p.Gly769=)
c.2363G= (p.Gly788=)
n.2455G=
n.2294G=
c.1889G= (p.Gly630=)
c.1619G= (p.Gly540=)
n.2634G=
1g.5887354C>GCA338058645NPHP4c.2417G>C (p.Gly806Ala)
c.*1318G>C (n.*1318G>C)
c.646G>C
n.2149G>C
c.2414G>C (p.Gly805Ala)
c.878G>C (p.Gly293Ala)
c.881G>C (p.Gly294Ala)
n.2682G>C
c.2306G>C (p.Gly769Ala)
c.2363G>C (p.Gly788Ala)
n.2455G>C
n.2294G>C
c.1889G>C (p.Gly630Ala)
c.1619G>C (p.Gly540Ala)
n.2634G>C
1g.5887354C>TCA338058646NPHP4c.2417G>A (p.Gly806Asp)
c.*1318G>A (n.*1318G>A)
c.646G>A
n.2149G>A
c.2414G>A (p.Gly805Asp)
c.878G>A (p.Gly293Asp)
c.881G>A (p.Gly294Asp)
n.2682G>A
c.2306G>A (p.Gly769Asp)
c.2363G>A (p.Gly788Asp)
n.2455G>A
n.2294G>A
c.1889G>A (p.Gly630Asp)
c.1619G>A (p.Gly540Asp)
n.2634G>A
1g.5887355C>ACA338058647NPHP4c.2416G>T (p.Gly806Cys)
c.*1317G>T (n.*1317G>T)
c.645G>T
n.2148G>T
c.2413G>T (p.Gly805Cys)
c.877G>T (p.Gly293Cys)
c.880G>T (p.Gly294Cys)
n.2681G>T
c.2305G>T (p.Gly769Cys)
c.2362G>T (p.Gly788Cys)
n.2454G>T
n.2293G>T
c.1888G>T (p.Gly630Cys)
c.1618G>T (p.Gly540Cys)
n.2633G>T
1g.5887355C=CA1151225264NPHP4c.2416G= (p.Gly806=)
c.*1317G= (n.*1317G=)
c.645G=
n.2148G=
c.2413G= (p.Gly805=)
c.877G= (p.Gly293=)
c.880G= (p.Gly294=)
n.2681G=
c.2305G= (p.Gly769=)
c.2362G= (p.Gly788=)
n.2454G=
n.2293G=
c.1888G= (p.Gly630=)
c.1618G= (p.Gly540=)
n.2633G=
1g.5887355C>GCA338058648NPHP4c.2416G>C (p.Gly806Arg)
c.*1317G>C (n.*1317G>C)
c.645G>C
n.2148G>C
c.2413G>C (p.Gly805Arg)
c.877G>C (p.Gly293Arg)
c.880G>C (p.Gly294Arg)
n.2681G>C
c.2305G>C (p.Gly769Arg)
c.2362G>C (p.Gly788Arg)
n.2454G>C
n.2293G>C
c.1888G>C (p.Gly630Arg)
c.1618G>C (p.Gly540Arg)
n.2633G>C
1g.5887355C>TCA338058649NPHP4c.2416G>A (p.Gly806Ser)
c.*1317G>A (n.*1317G>A)
c.645G>A
n.2148G>A
c.2413G>A (p.Gly805Ser)
c.877G>A (p.Gly293Ser)
c.880G>A (p.Gly294Ser)
n.2681G>A
c.2305G>A (p.Gly769Ser)
c.2362G>A (p.Gly788Ser)
n.2454G>A
n.2293G>A
c.1888G>A (p.Gly630Ser)
c.1618G>A (p.Gly540Ser)
n.2633G>A
 dbSNP
1g.5887356A=CA1151225266NPHP4c.2415T= (p.Phe805=)
c.*1316T= (n.*1316T=)
c.644T=
n.2147T=
c.2412T= (p.Phe804=)
c.876T= (p.Phe292=)
c.879T= (p.Phe293=)
n.2680T=
c.2304T= (p.Phe768=)
c.2361T= (p.Phe787=)
n.2453T=
n.2292T=
c.1887T= (p.Phe629=)
c.1617T= (p.Phe539=)
n.2632T=
1g.5887356A>CCA554131NPHP4c.2415T>G (p.Phe805Leu)
c.*1316T>G (n.*1316T>G)
c.644T>G
n.2147T>G
c.2412T>G (p.Phe804Leu)
c.876T>G (p.Phe292Leu)
c.879T>G (p.Phe293Leu)
n.2680T>G
c.2304T>G (p.Phe768Leu)
c.2361T>G (p.Phe787Leu)
n.2453T>G
n.2292T>G
c.1887T>G (p.Phe629Leu)
c.1617T>G (p.Phe539Leu)
n.2632T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.5887356A>GCA415790530NPHP4c.2415T>C (p.Phe805=)
c.*1316T>C (n.*1316T>C)
c.644T>C
n.2147T>C
c.2412T>C (p.Phe804=)
c.876T>C (p.Phe292=)
c.879T>C (p.Phe293=)
n.2680T>C
c.2304T>C (p.Phe768=)
c.2361T>C (p.Phe787=)
n.2453T>C
n.2292T>C
c.1887T>C (p.Phe629=)
c.1617T>C (p.Phe539=)
n.2632T>C
1g.5887356A>TCA338058650NPHP4c.2415T>A (p.Phe805Leu)
c.*1316T>A (n.*1316T>A)
c.644T>A
n.2147T>A
c.2412T>A (p.Phe804Leu)
c.876T>A (p.Phe292Leu)
c.879T>A (p.Phe293Leu)
n.2680T>A
c.2304T>A (p.Phe768Leu)
c.2361T>A (p.Phe787Leu)
n.2453T>A
n.2292T>A
c.1887T>A (p.Phe629Leu)
c.1617T>A (p.Phe539Leu)
n.2632T>A
1g.5887357A>CCA338058651NPHP4c.2414T>G (p.Phe805Cys)
c.*1315T>G (n.*1315T>G)
c.643T>G
n.2146T>G
c.2411T>G (p.Phe804Cys)
c.875T>G (p.Phe292Cys)
c.878T>G (p.Phe293Cys)
n.2679T>G
c.2303T>G (p.Phe768Cys)
c.2360T>G (p.Phe787Cys)
n.2452T>G
n.2291T>G
c.1886T>G (p.Phe629Cys)
c.1616T>G (p.Phe539Cys)
n.2631T>G
1g.5887357A>GCA338058653NPHP4c.2414T>C (p.Phe805Ser)
c.*1315T>C (n.*1315T>C)
c.643T>C
n.2146T>C
c.2411T>C (p.Phe804Ser)
c.875T>C (p.Phe292Ser)
c.878T>C (p.Phe293Ser)
n.2679T>C
c.2303T>C (p.Phe768Ser)
c.2360T>C (p.Phe787Ser)
n.2452T>C
n.2291T>C
c.1886T>C (p.Phe629Ser)
c.1616T>C (p.Phe539Ser)
n.2631T>C
1g.5887357A>TCA338058652NPHP4c.2414T>A (p.Phe805Tyr)
c.*1315T>A (n.*1315T>A)
c.643T>A
n.2146T>A
c.2411T>A (p.Phe804Tyr)
c.875T>A (p.Phe292Tyr)
c.878T>A (p.Phe293Tyr)
n.2679T>A
c.2303T>A (p.Phe768Tyr)
c.2360T>A (p.Phe787Tyr)
n.2452T>A
n.2291T>A
c.1886T>A (p.Phe629Tyr)
c.1616T>A (p.Phe539Tyr)
n.2631T>A
1g.5887358A=CA1151225270NPHP4c.2413T= (p.Phe805=)
c.*1314T= (n.*1314T=)
c.642T=
n.2145T=
c.2410T= (p.Phe804=)
c.874T= (p.Phe292=)
c.877T= (p.Phe293=)
n.2678T=
c.2302T= (p.Phe768=)
c.2359T= (p.Phe787=)
n.2451T=
n.2290T=
c.1885T= (p.Phe629=)
c.1615T= (p.Phe539=)
n.2630T=
1g.5887358A>CCA338058654NPHP4c.2413T>G (p.Phe805Val)
c.*1314T>G (n.*1314T>G)
c.642T>G
n.2145T>G
c.2410T>G (p.Phe804Val)
c.874T>G (p.Phe292Val)
c.877T>G (p.Phe293Val)
n.2678T>G
c.2302T>G (p.Phe768Val)
c.2359T>G (p.Phe787Val)
n.2451T>G
n.2290T>G
c.1885T>G (p.Phe629Val)
c.1615T>G (p.Phe539Val)
n.2630T>G
 dbSNP
1g.5887358A>GCA338058655NPHP4c.2413T>C (p.Phe805Leu)
c.*1314T>C (n.*1314T>C)
c.642T>C
n.2145T>C
c.2410T>C (p.Phe804Leu)
c.874T>C (p.Phe292Leu)
c.877T>C (p.Phe293Leu)
n.2678T>C
c.2302T>C (p.Phe768Leu)
c.2359T>C (p.Phe787Leu)
n.2451T>C
n.2290T>C
c.1885T>C (p.Phe629Leu)
c.1615T>C (p.Phe539Leu)
n.2630T>C
1g.5887358A>TCA338058656NPHP4c.2413T>A (p.Phe805Ile)
c.*1314T>A (n.*1314T>A)
c.642T>A
n.2145T>A
c.2410T>A (p.Phe804Ile)
c.874T>A (p.Phe292Ile)
c.877T>A (p.Phe293Ile)
n.2678T>A
c.2302T>A (p.Phe768Ile)
c.2359T>A (p.Phe787Ile)
n.2451T>A
n.2290T>A
c.1885T>A (p.Phe629Ile)
c.1615T>A (p.Phe539Ile)
n.2630T>A
1g.5887359C>ACA415790531NPHP4c.2412G>T (p.Gly804=)
c.*1313G>T (n.*1313G>T)
c.641G>T
n.2144G>T
c.2409G>T (p.Gly803=)
c.873G>T (p.Gly291=)
c.876G>T (p.Gly292=)
n.2677G>T
c.2301G>T (p.Gly767=)
c.2358G>T (p.Gly786=)
n.2450G>T
n.2289G>T
c.1884G>T (p.Gly628=)
c.1614G>T (p.Gly538=)
n.2629G>T
1g.5887359C>GCA415790533NPHP4c.2412G>C (p.Gly804=)
c.*1313G>C (n.*1313G>C)
c.641G>C
n.2144G>C
c.2409G>C (p.Gly803=)
c.873G>C (p.Gly291=)
c.876G>C (p.Gly292=)
n.2677G>C
c.2301G>C (p.Gly767=)
c.2358G>C (p.Gly786=)
n.2450G>C
n.2289G>C
c.1884G>C (p.Gly628=)
c.1614G>C (p.Gly538=)
n.2629G>C
1g.5887359C>TCA415790532NPHP4c.2412G>A (p.Gly804=)
c.*1313G>A (n.*1313G>A)
c.641G>A
n.2144G>A
c.2409G>A (p.Gly803=)
c.873G>A (p.Gly291=)
c.876G>A (p.Gly292=)
n.2677G>A
c.2301G>A (p.Gly767=)
c.2358G>A (p.Gly786=)
n.2450G>A
n.2289G>A
c.1884G>A (p.Gly628=)
c.1614G>A (p.Gly538=)
n.2629G>A
 gnomAD v4
1g.5887360C>ACA338058657NPHP4c.2411G>T (p.Gly804Val)
c.*1312G>T (n.*1312G>T)
c.640G>T
n.2143G>T
c.2408G>T (p.Gly803Val)
c.872G>T (p.Gly291Val)
c.875G>T (p.Gly292Val)
n.2676G>T
c.2300G>T (p.Gly767Val)
c.2357G>T (p.Gly786Val)
n.2449G>T
n.2288G>T
c.1883G>T (p.Gly628Val)
c.1613G>T (p.Gly538Val)
n.2628G>T
1g.5887360C>GCA338058658NPHP4c.2411G>C (p.Gly804Ala)
c.*1312G>C (n.*1312G>C)
c.640G>C
n.2143G>C
c.2408G>C (p.Gly803Ala)
c.872G>C (p.Gly291Ala)
c.875G>C (p.Gly292Ala)
n.2676G>C
c.2300G>C (p.Gly767Ala)
c.2357G>C (p.Gly786Ala)
n.2449G>C
n.2288G>C
c.1883G>C (p.Gly628Ala)
c.1613G>C (p.Gly538Ala)
n.2628G>C
 gnomAD v4
1g.5887360C>TCA338058659NPHP4c.2411G>A (p.Gly804Glu)
c.*1312G>A (n.*1312G>A)
c.640G>A
n.2143G>A
c.2408G>A (p.Gly803Glu)
c.872G>A (p.Gly291Glu)
c.875G>A (p.Gly292Glu)
n.2676G>A
c.2300G>A (p.Gly767Glu)
c.2357G>A (p.Gly786Glu)
n.2449G>A
n.2288G>A
c.1883G>A (p.Gly628Glu)
c.1613G>A (p.Gly538Glu)
n.2628G>A
1g.5887361C>ACA338058660NPHP4c.2410G>T (p.Gly804Trp)
c.*1311G>T (n.*1311G>T)
c.639G>T
n.2142G>T
c.2407G>T (p.Gly803Trp)
c.871G>T (p.Gly291Trp)
c.874G>T (p.Gly292Trp)
n.2675G>T
c.2299G>T (p.Gly767Trp)
c.2356G>T (p.Gly786Trp)
n.2448G>T
n.2287G>T
c.1882G>T (p.Gly628Trp)
c.1612G>T (p.Gly538Trp)
n.2627G>T
1g.5887361C>GCA338058661NPHP4c.2410G>C (p.Gly804Arg)
c.*1311G>C (n.*1311G>C)
c.639G>C
n.2142G>C
c.2407G>C (p.Gly803Arg)
c.871G>C (p.Gly291Arg)
c.874G>C (p.Gly292Arg)
n.2675G>C
c.2299G>C (p.Gly767Arg)
c.2356G>C (p.Gly786Arg)
n.2448G>C
n.2287G>C
c.1882G>C (p.Gly628Arg)
c.1612G>C (p.Gly538Arg)
n.2627G>C
1g.5887361C>TCA338058662NPHP4c.2410G>A (p.Gly804Arg)
c.*1311G>A (n.*1311G>A)
c.639G>A
n.2142G>A
c.2407G>A (p.Gly803Arg)
c.871G>A (p.Gly291Arg)
c.874G>A (p.Gly292Arg)
n.2675G>A
c.2299G>A (p.Gly767Arg)
c.2356G>A (p.Gly786Arg)
n.2448G>A
n.2287G>A
c.1882G>A (p.Gly628Arg)
c.1612G>A (p.Gly538Arg)
n.2627G>A
1g.5887362C>ACA415790534NPHP4c.2409G>T (p.Leu803=)
c.*1310G>T (n.*1310G>T)
c.638G>T
n.2141G>T
c.2406G>T (p.Leu802=)
c.870G>T (p.Leu290=)
c.873G>T (p.Leu291=)
n.2674G>T
c.2298G>T (p.Leu766=)
c.2355G>T (p.Leu785=)
n.2447G>T
n.2286G>T
c.1881G>T (p.Leu627=)
c.1611G>T (p.Leu537=)
n.2626G>T
1g.5887362C=CA1151225273NPHP4c.2409G= (p.Leu803=)
c.*1310G= (n.*1310G=)
c.638G=
n.2141G=
c.2406G= (p.Leu802=)
c.870G= (p.Leu290=)
c.873G= (p.Leu291=)
n.2674G=
c.2298G= (p.Leu766=)
c.2355G= (p.Leu785=)
n.2447G=
n.2286G=
c.1881G= (p.Leu627=)
c.1611G= (p.Leu537=)
n.2626G=
1g.5887362C>GCA415790535NPHP4c.2409G>C (p.Leu803=)
c.*1310G>C (n.*1310G>C)
c.638G>C
n.2141G>C
c.2406G>C (p.Leu802=)
c.870G>C (p.Leu290=)
c.873G>C (p.Leu291=)
n.2674G>C
c.2298G>C (p.Leu766=)
c.2355G>C (p.Leu785=)
n.2447G>C
n.2286G>C
c.1881G>C (p.Leu627=)
c.1611G>C (p.Leu537=)
n.2626G>C
1g.5887362C>TCA554132NPHP4c.2409G>A (p.Leu803=)
c.*1310G>A (n.*1310G>A)
c.638G>A
n.2141G>A
c.2406G>A (p.Leu802=)
c.870G>A (p.Leu290=)
c.873G>A (p.Leu291=)
n.2674G>A
c.2298G>A (p.Leu766=)
c.2355G>A (p.Leu785=)
n.2447G>A
n.2286G>A
c.1881G>A (p.Leu627=)
c.1611G>A (p.Leu537=)
n.2626G>A
 dbSNP ExAC gnomAD v4
1g.5887363A=CA1151225274NPHP4c.2408T= (p.Leu803=)
c.*1309T= (n.*1309T=)
c.637T=
n.2140T=
c.2405T= (p.Leu802=)
c.869T= (p.Leu290=)
c.872T= (p.Leu291=)
n.2673T=
c.2297T= (p.Leu766=)
c.2354T= (p.Leu785=)
n.2446T=
n.2285T=
c.1880T= (p.Leu627=)
c.1610T= (p.Leu537=)
n.2625T=
1g.5887363A>CCA338058664NPHP4c.2408T>G (p.Leu803Arg)
c.*1309T>G (n.*1309T>G)
c.637T>G
n.2140T>G
c.2405T>G (p.Leu802Arg)
c.869T>G (p.Leu290Arg)
c.872T>G (p.Leu291Arg)
n.2673T>G
c.2297T>G (p.Leu766Arg)
c.2354T>G (p.Leu785Arg)
n.2446T>G
n.2285T>G
c.1880T>G (p.Leu627Arg)
c.1610T>G (p.Leu537Arg)
n.2625T>G
1g.5887363A>GCA338058665NPHP4c.2408T>C (p.Leu803Pro)
c.*1309T>C (n.*1309T>C)
c.637T>C
n.2140T>C
c.2405T>C (p.Leu802Pro)
c.869T>C (p.Leu290Pro)
c.872T>C (p.Leu291Pro)
n.2673T>C
c.2297T>C (p.Leu766Pro)
c.2354T>C (p.Leu785Pro)
n.2446T>C
n.2285T>C
c.1880T>C (p.Leu627Pro)
c.1610T>C (p.Leu537Pro)
n.2625T>C
 dbSNP gnomAD v4
1g.5887363A>TCA338058663NPHP4c.2408T>A (p.Leu803Gln)
c.*1309T>A (n.*1309T>A)
c.637T>A
n.2140T>A
c.2405T>A (p.Leu802Gln)
c.869T>A (p.Leu290Gln)
c.872T>A (p.Leu291Gln)
n.2673T>A
c.2297T>A (p.Leu766Gln)
c.2354T>A (p.Leu785Gln)
n.2446T>A
n.2285T>A
c.1880T>A (p.Leu627Gln)
c.1610T>A (p.Leu537Gln)
n.2625T>A
1g.5887364G>ACA415790536NPHP4c.2407C>T (p.Leu803=)
c.*1308C>T (n.*1308C>T)
c.636C>T
n.2139C>T
c.2404C>T (p.Leu802=)
c.868C>T (p.Leu290=)
c.871C>T (p.Leu291=)
n.2672C>T
c.2296C>T (p.Leu766=)
c.2353C>T (p.Leu785=)
n.2445C>T
n.2284C>T
c.1879C>T (p.Leu627=)
c.1609C>T (p.Leu537=)
n.2624C>T
1g.5887364G>CCA338058667NPHP4c.2407C>G (p.Leu803Val)
c.*1308C>G (n.*1308C>G)
c.636C>G
n.2139C>G
c.2404C>G (p.Leu802Val)
c.868C>G (p.Leu290Val)
c.871C>G (p.Leu291Val)
n.2672C>G
c.2296C>G (p.Leu766Val)
c.2353C>G (p.Leu785Val)
n.2445C>G
n.2284C>G
c.1879C>G (p.Leu627Val)
c.1609C>G (p.Leu537Val)
n.2624C>G
1g.5887364G>TCA338058666NPHP4c.2407C>A (p.Leu803Met)
c.*1308C>A (n.*1308C>A)
c.636C>A
n.2139C>A
c.2404C>A (p.Leu802Met)
c.868C>A (p.Leu290Met)
c.871C>A (p.Leu291Met)
n.2672C>A
c.2296C>A (p.Leu766Met)
c.2353C>A (p.Leu785Met)
n.2445C>A
n.2284C>A
c.1879C>A (p.Leu627Met)
c.1609C>A (p.Leu537Met)
n.2624C>A
1g.5887365delCA2742303529NPHP4c.2406del (p.Met802IlefsTer16)
c.*1307del (n.*1307del)
c.635del
n.2138del
c.2403del (p.Met801IlefsTer16)
c.867del (p.Met289IlefsTer16)
c.870del (p.Met290IlefsTer16)
n.2671del
c.2295del (p.Met765IlefsTer16)
c.2352del (p.Met784IlefsTer16)
n.2444del
n.2283del
c.1878del (p.Met626IlefsTer16)
c.1608del (p.Met536IlefsTer16)
n.2623del
1g.5887365C>ACA338058668NPHP4c.2406G>T (p.Met802Ile)
c.*1307G>T (n.*1307G>T)
c.635G>T
n.2138G>T
c.2403G>T (p.Met801Ile)
c.867G>T (p.Met289Ile)
c.870G>T (p.Met290Ile)
n.2671G>T
c.2295G>T (p.Met765Ile)
c.2352G>T (p.Met784Ile)
n.2444G>T
n.2283G>T
c.1878G>T (p.Met626Ile)
c.1608G>T (p.Met536Ile)
n.2623G>T
 COSMIC
1g.5887365C>GCA338058669NPHP4c.2406G>C (p.Met802Ile)
c.*1307G>C (n.*1307G>C)
c.635G>C
n.2138G>C
c.2403G>C (p.Met801Ile)
c.867G>C (p.Met289Ile)
c.870G>C (p.Met290Ile)
n.2671G>C
c.2295G>C (p.Met765Ile)
c.2352G>C (p.Met784Ile)
n.2444G>C
n.2283G>C
c.1878G>C (p.Met626Ile)
c.1608G>C (p.Met536Ile)
n.2623G>C
1g.5887365C>TCA338058670NPHP4c.2406G>A (p.Met802Ile)
c.*1307G>A (n.*1307G>A)
c.635G>A
n.2138G>A
c.2403G>A (p.Met801Ile)
c.867G>A (p.Met289Ile)
c.870G>A (p.Met290Ile)
n.2671G>A
c.2295G>A (p.Met765Ile)
c.2352G>A (p.Met784Ile)
n.2444G>A
n.2283G>A
c.1878G>A (p.Met626Ile)
c.1608G>A (p.Met536Ile)
n.2623G>A
1g.5887366A>CCA338058671NPHP4c.2405T>G (p.Met802Arg)
c.*1306T>G (n.*1306T>G)
c.634T>G
n.2137T>G
c.2402T>G (p.Met801Arg)
c.866T>G (p.Met289Arg)
c.869T>G (p.Met290Arg)
n.2670T>G
c.2294T>G (p.Met765Arg)
c.2351T>G (p.Met784Arg)
n.2443T>G
n.2282T>G
c.1877T>G (p.Met626Arg)
c.1607T>G (p.Met536Arg)
n.2622T>G
1g.5887366A>GCA338058672NPHP4c.2405T>C (p.Met802Thr)
c.*1306T>C (n.*1306T>C)
c.634T>C
n.2137T>C
c.2402T>C (p.Met801Thr)
c.866T>C (p.Met289Thr)
c.869T>C (p.Met290Thr)
n.2670T>C
c.2294T>C (p.Met765Thr)
c.2351T>C (p.Met784Thr)
n.2443T>C
n.2282T>C
c.1877T>C (p.Met626Thr)
c.1607T>C (p.Met536Thr)
n.2622T>C
 ClinVar
1g.5887366A>TCA338058673NPHP4c.2405T>A (p.Met802Lys)
c.*1306T>A (n.*1306T>A)
c.634T>A
n.2137T>A
c.2402T>A (p.Met801Lys)
c.866T>A (p.Met289Lys)
c.869T>A (p.Met290Lys)
n.2670T>A
c.2294T>A (p.Met765Lys)
c.2351T>A (p.Met784Lys)
n.2443T>A
n.2282T>A
c.1877T>A (p.Met626Lys)
c.1607T>A (p.Met536Lys)
n.2622T>A
1g.5887367T>ACA338058674NPHP4c.2404A>T (p.Met802Leu)
c.*1305A>T (n.*1305A>T)
c.633A>T
n.2136A>T
c.2401A>T (p.Met801Leu)
c.865A>T (p.Met289Leu)
c.868A>T (p.Met290Leu)
n.2669A>T
c.2293A>T (p.Met765Leu)
c.2350A>T (p.Met784Leu)
n.2442A>T
n.2281A>T
c.1876A>T (p.Met626Leu)
c.1606A>T (p.Met536Leu)
n.2621A>T
1g.5887367T>CCA554133NPHP4c.2404A>G (p.Met802Val)
c.*1305A>G (n.*1305A>G)
c.633A>G
n.2136A>G
c.2401A>G (p.Met801Val)
c.865A>G (p.Met289Val)
c.868A>G (p.Met290Val)
n.2669A>G
c.2293A>G (p.Met765Val)
c.2350A>G (p.Met784Val)
n.2442A>G
n.2281A>G
c.1876A>G (p.Met626Val)
c.1606A>G (p.Met536Val)
n.2621A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5887367T>GCA338058675NPHP4c.2404A>C (p.Met802Leu)
c.*1305A>C (n.*1305A>C)
c.633A>C
n.2136A>C
c.2401A>C (p.Met801Leu)
c.865A>C (p.Met289Leu)
c.868A>C (p.Met290Leu)
n.2669A>C
c.2293A>C (p.Met765Leu)
c.2350A>C (p.Met784Leu)
n.2442A>C
n.2281A>C
c.1876A>C (p.Met626Leu)
c.1606A>C (p.Met536Leu)
n.2621A>C
1g.5887367T=CA1143595996NPHP4c.2404A= (p.Met802=)
c.*1305A= (n.*1305A=)
c.633A=
n.2136A=
c.2401A= (p.Met801=)
c.865A= (p.Met289=)
c.868A= (p.Met290=)
n.2669A=
c.2293A= (p.Met765=)
c.2350A= (p.Met784=)
n.2442A=
n.2281A=
c.1876A= (p.Met626=)
c.1606A= (p.Met536=)
n.2621A=
1g.5887368G>ACA415790537NPHP4c.2403C>T (p.Asp801=)
c.*1304C>T (n.*1304C>T)
c.632C>T
n.2135C>T
c.2400C>T (p.Asp800=)
c.864C>T (p.Asp288=)
c.867C>T (p.Asp289=)
n.2668C>T
c.2292C>T (p.Asp764=)
c.2349C>T (p.Asp783=)
n.2441C>T
n.2280C>T
c.1875C>T (p.Asp625=)
c.1605C>T (p.Asp535=)
n.2620C>T
1g.5887368G>CCA338058676NPHP4c.2403C>G (p.Asp801Glu)
c.*1304C>G (n.*1304C>G)
c.632C>G
n.2135C>G
c.2400C>G (p.Asp800Glu)
c.864C>G (p.Asp288Glu)
c.867C>G (p.Asp289Glu)
n.2668C>G
c.2292C>G (p.Asp764Glu)
c.2349C>G (p.Asp783Glu)
n.2441C>G
n.2280C>G
c.1875C>G (p.Asp625Glu)
c.1605C>G (p.Asp535Glu)
n.2620C>G
1g.5887368G>TCA338058677NPHP4c.2403C>A (p.Asp801Glu)
c.*1304C>A (n.*1304C>A)
c.632C>A
n.2135C>A
c.2400C>A (p.Asp800Glu)
c.864C>A (p.Asp288Glu)
c.867C>A (p.Asp289Glu)
n.2668C>A
c.2292C>A (p.Asp764Glu)
c.2349C>A (p.Asp783Glu)
n.2441C>A
n.2280C>A
c.1875C>A (p.Asp625Glu)
c.1605C>A (p.Asp535Glu)
n.2620C>A
1g.5887369T>ACA338058680NPHP4c.2402A>T (p.Asp801Val)
c.*1303A>T (n.*1303A>T)
c.631A>T
n.2134A>T
c.2399A>T (p.Asp800Val)
c.863A>T (p.Asp288Val)
c.866A>T (p.Asp289Val)
n.2667A>T
c.2291A>T (p.Asp764Val)
c.2348A>T (p.Asp783Val)
n.2440A>T
n.2279A>T
c.1874A>T (p.Asp625Val)
c.1604A>T (p.Asp535Val)
n.2619A>T
1g.5887369T>CCA338058678NPHP4c.2402A>G (p.Asp801Gly)
c.*1303A>G (n.*1303A>G)
c.631A>G
n.2134A>G
c.2399A>G (p.Asp800Gly)
c.863A>G (p.Asp288Gly)
c.866A>G (p.Asp289Gly)
n.2667A>G
c.2291A>G (p.Asp764Gly)
c.2348A>G (p.Asp783Gly)
n.2440A>G
n.2279A>G
c.1874A>G (p.Asp625Gly)
c.1604A>G (p.Asp535Gly)
n.2619A>G
 gnomAD v4
1g.5887369T>GCA338058679NPHP4c.2402A>C (p.Asp801Ala)
c.*1303A>C (n.*1303A>C)
c.631A>C
n.2134A>C
c.2399A>C (p.Asp800Ala)
c.863A>C (p.Asp288Ala)
c.866A>C (p.Asp289Ala)
n.2667A>C
c.2291A>C (p.Asp764Ala)
c.2348A>C (p.Asp783Ala)
n.2440A>C
n.2279A>C
c.1874A>C (p.Asp625Ala)
c.1604A>C (p.Asp535Ala)
n.2619A>C
1g.5887369T=CA1151225278NPHP4c.2402A= (p.Asp801=)
c.*1303A= (n.*1303A=)
c.631A=
n.2134A=
c.2399A= (p.Asp800=)
c.863A= (p.Asp288=)
c.866A= (p.Asp289=)
n.2667A=
c.2291A= (p.Asp764=)
c.2348A= (p.Asp783=)
n.2440A=
n.2279A=
c.1874A= (p.Asp625=)
c.1604A= (p.Asp535=)
n.2619A=
1g.5887370C>ACA338058681NPHP4c.2401G>T (p.Asp801Tyr)
c.*1302G>T (n.*1302G>T)
c.630G>T
n.2133G>T
c.2398G>T (p.Asp800Tyr)
c.862G>T (p.Asp288Tyr)
c.865G>T (p.Asp289Tyr)
n.2666G>T
c.2290G>T (p.Asp764Tyr)
c.2347G>T (p.Asp783Tyr)
n.2439G>T
n.2278G>T
c.1873G>T (p.Asp625Tyr)
c.1603G>T (p.Asp535Tyr)
n.2618G>T
1g.5887370C>GCA338058682NPHP4c.2401G>C (p.Asp801His)
c.*1302G>C (n.*1302G>C)
c.630G>C
n.2133G>C
c.2398G>C (p.Asp800His)
c.862G>C (p.Asp288His)
c.865G>C (p.Asp289His)
n.2666G>C
c.2290G>C (p.Asp764His)
c.2347G>C (p.Asp783His)
n.2439G>C
n.2278G>C
c.1873G>C (p.Asp625His)
c.1603G>C (p.Asp535His)
n.2618G>C
1g.5887370C>TCA338058683NPHP4c.2401G>A (p.Asp801Asn)
c.*1302G>A (n.*1302G>A)
c.630G>A
n.2133G>A
c.2398G>A (p.Asp800Asn)
c.862G>A (p.Asp288Asn)
c.865G>A (p.Asp289Asn)
n.2666G>A
c.2290G>A (p.Asp764Asn)
c.2347G>A (p.Asp783Asn)
n.2439G>A
n.2278G>A
c.1873G>A (p.Asp625Asn)
c.1603G>A (p.Asp535Asn)
n.2618G>A
1g.5887371_5887373dupCA737337117NPHP4c.2399_2401dup (p.Gly800_Asp801insGly)
c.*1300_*1302dup (n.*1300_*1302dup)
c.628_630dup
n.2131_2133dup
c.2396_2398dup (p.Gly799_Asp800insGly)
c.860_862dup (p.Gly287_Asp288insGly)
c.863_865dup (p.Gly288_Asp289insGly)
n.2664_2666dup
c.2288_2290dup (p.Gly763_Asp764insGly)
c.2345_2347dup (p.Gly782_Asp783insGly)
n.2437_2439dup
n.2276_2278dup
c.1871_1873dup (p.Gly624_Asp625insGly)
c.1601_1603dup (p.Gly534_Asp535insGly)
n.2616_2618dup
 dbSNP gnomAD v4
1g.5887371T>ACA415790538NPHP4c.2400A>T (p.Gly800=)
c.*1301A>T (n.*1301A>T)
c.629A>T
n.2132A>T
c.2397A>T (p.Gly799=)
c.861A>T (p.Gly287=)
c.864A>T (p.Gly288=)
n.2665A>T
c.2289A>T (p.Gly763=)
c.2346A>T (p.Gly782=)
n.2438A>T
n.2277A>T
c.1872A>T (p.Gly624=)
c.1602A>T (p.Gly534=)
n.2617A>T
1g.5887371T>CCA415790539NPHP4c.2400A>G (p.Gly800=)
c.*1301A>G (n.*1301A>G)
c.629A>G
n.2132A>G
c.2397A>G (p.Gly799=)
c.861A>G (p.Gly287=)
c.864A>G (p.Gly288=)
n.2665A>G
c.2289A>G (p.Gly763=)
c.2346A>G (p.Gly782=)
n.2438A>G
n.2277A>G
c.1872A>G (p.Gly624=)
c.1602A>G (p.Gly534=)
n.2617A>G
1g.5887371T>GCA415790540NPHP4c.2400A>C (p.Gly800=)
c.*1301A>C (n.*1301A>C)
c.629A>C
n.2132A>C
c.2397A>C (p.Gly799=)
c.861A>C (p.Gly287=)
c.864A>C (p.Gly288=)
n.2665A>C
c.2289A>C (p.Gly763=)
c.2346A>C (p.Gly782=)
n.2438A>C
n.2277A>C
c.1872A>C (p.Gly624=)
c.1602A>C (p.Gly534=)
n.2617A>C
1g.5887372C>ACA338058684NPHP4c.2399G>T (p.Gly800Val)
c.*1300G>T (n.*1300G>T)
c.628G>T
n.2131G>T
c.2396G>T (p.Gly799Val)
c.860G>T (p.Gly287Val)
c.863G>T (p.Gly288Val)
n.2664G>T
c.2288G>T (p.Gly763Val)
c.2345G>T (p.Gly782Val)
n.2437G>T
n.2276G>T
c.1871G>T (p.Gly624Val)
c.1601G>T (p.Gly534Val)
n.2616G>T
1g.5887372C=CA1151225282NPHP4c.2399G= (p.Gly800=)
c.*1300G= (n.*1300G=)
c.628G=
n.2131G=
c.2396G= (p.Gly799=)
c.860G= (p.Gly287=)
c.863G= (p.Gly288=)
n.2664G=
c.2288G= (p.Gly763=)
c.2345G= (p.Gly782=)
n.2437G=
n.2276G=
c.1871G= (p.Gly624=)
c.1601G= (p.Gly534=)
n.2616G=
1g.5887372C>GCA338058685NPHP4c.2399G>C (p.Gly800Ala)
c.*1300G>C (n.*1300G>C)
c.628G>C
n.2131G>C
c.2396G>C (p.Gly799Ala)
c.860G>C (p.Gly287Ala)
c.863G>C (p.Gly288Ala)
n.2664G>C
c.2288G>C (p.Gly763Ala)
c.2345G>C (p.Gly782Ala)
n.2437G>C
n.2276G>C
c.1871G>C (p.Gly624Ala)
c.1601G>C (p.Gly534Ala)
n.2616G>C
1g.5887372C>TCA338058686NPHP4c.2399G>A (p.Gly800Glu)
c.*1300G>A (n.*1300G>A)
c.628G>A
n.2131G>A
c.2396G>A (p.Gly799Glu)
c.860G>A (p.Gly287Glu)
c.863G>A (p.Gly288Glu)
n.2664G>A
c.2288G>A (p.Gly763Glu)
c.2345G>A (p.Gly782Glu)
n.2437G>A
n.2276G>A
c.1871G>A (p.Gly624Glu)
c.1601G>A (p.Gly534Glu)
n.2616G>A
 dbSNP
1g.5887373C>ACA338058687NPHP4c.2398G>T (p.Gly800Ter)
c.*1299G>T (n.*1299G>T)
c.627G>T
n.2130G>T
c.2395G>T (p.Gly799Ter)
c.859G>T (p.Gly287Ter)
c.862G>T (p.Gly288Ter)
n.2663G>T
c.2287G>T (p.Gly763Ter)
c.2344G>T (p.Gly782Ter)
n.2436G>T
n.2275G>T
c.1870G>T (p.Gly624Ter)
c.1600G>T (p.Gly534Ter)
n.2615G>T
1g.5887373C>GCA338058688NPHP4c.2398G>C (p.Gly800Arg)
c.*1299G>C (n.*1299G>C)
c.627G>C
n.2130G>C
c.2395G>C (p.Gly799Arg)
c.859G>C (p.Gly287Arg)
c.862G>C (p.Gly288Arg)
n.2663G>C
c.2287G>C (p.Gly763Arg)
c.2344G>C (p.Gly782Arg)
n.2436G>C
n.2275G>C
c.1870G>C (p.Gly624Arg)
c.1600G>C (p.Gly534Arg)
n.2615G>C
1g.5887373C>TCA338058689NPHP4c.2398G>A (p.Gly800Arg)
c.*1299G>A (n.*1299G>A)
c.627G>A
n.2130G>A
c.2395G>A (p.Gly799Arg)
c.859G>A (p.Gly287Arg)
c.862G>A (p.Gly288Arg)
n.2663G>A
c.2287G>A (p.Gly763Arg)
c.2344G>A (p.Gly782Arg)
n.2436G>A
n.2275G>A
c.1870G>A (p.Gly624Arg)
c.1600G>A (p.Gly534Arg)
n.2615G>A
1g.5887374A>CCA338058690NPHP4c.2397T>G (p.Ser799Arg)
c.*1298T>G (n.*1298T>G)
c.626T>G
n.2129T>G
c.2394T>G (p.Ser798Arg)
c.858T>G (p.Ser286Arg)
c.861T>G (p.Ser287Arg)
n.2662T>G
c.2286T>G (p.Ser762Arg)
c.2343T>G (p.Ser781Arg)
n.2435T>G
n.2274T>G
c.1869T>G (p.Ser623Arg)
c.1599T>G (p.Ser533Arg)
n.2614T>G
1g.5887374A>GCA415790541NPHP4c.2397T>C (p.Ser799=)
c.*1298T>C (n.*1298T>C)
c.626T>C
n.2129T>C
c.2394T>C (p.Ser798=)
c.858T>C (p.Ser286=)
c.861T>C (p.Ser287=)
n.2662T>C
c.2286T>C (p.Ser762=)
c.2343T>C (p.Ser781=)
n.2435T>C
n.2274T>C
c.1869T>C (p.Ser623=)
c.1599T>C (p.Ser533=)
n.2614T>C
1g.5887374A>TCA338058691NPHP4c.2397T>A (p.Ser799Arg)
c.*1298T>A (n.*1298T>A)
c.626T>A
n.2129T>A
c.2394T>A (p.Ser798Arg)
c.858T>A (p.Ser286Arg)
c.861T>A (p.Ser287Arg)
n.2662T>A
c.2286T>A (p.Ser762Arg)
c.2343T>A (p.Ser781Arg)
n.2435T>A
n.2274T>A
c.1869T>A (p.Ser623Arg)
c.1599T>A (p.Ser533Arg)
n.2614T>A
1g.5887375C>ACA338058693NPHP4c.2396G>T (p.Ser799Ile)
c.*1297G>T (n.*1297G>T)
c.625G>T
n.2128G>T
c.2393G>T (p.Ser798Ile)
c.857G>T (p.Ser286Ile)
c.860G>T (p.Ser287Ile)
n.2661G>T
c.2285G>T (p.Ser762Ile)
c.2342G>T (p.Ser781Ile)
n.2434G>T
n.2273G>T
c.1868G>T (p.Ser623Ile)
c.1598G>T (p.Ser533Ile)
n.2613G>T
 gnomAD v4
1g.5887375C>GCA338058694NPHP4c.2396G>C (p.Ser799Thr)
c.*1297G>C (n.*1297G>C)
c.625G>C
n.2128G>C
c.2393G>C (p.Ser798Thr)
c.857G>C (p.Ser286Thr)
c.860G>C (p.Ser287Thr)
n.2661G>C
c.2285G>C (p.Ser762Thr)
c.2342G>C (p.Ser781Thr)
n.2434G>C
n.2273G>C
c.1868G>C (p.Ser623Thr)
c.1598G>C (p.Ser533Thr)
n.2613G>C
 gnomAD v4
1g.5887375C>TCA338058692NPHP4c.2396G>A (p.Ser799Asn)
c.*1297G>A (n.*1297G>A)
c.625G>A
n.2128G>A
c.2393G>A (p.Ser798Asn)
c.857G>A (p.Ser286Asn)
c.860G>A (p.Ser287Asn)
n.2661G>A
c.2285G>A (p.Ser762Asn)
c.2342G>A (p.Ser781Asn)
n.2434G>A
n.2273G>A
c.1868G>A (p.Ser623Asn)
c.1598G>A (p.Ser533Asn)
n.2613G>A
1g.5887376T>ACA338058695NPHP4c.2395A>T (p.Ser799Cys)
c.*1296A>T (n.*1296A>T)
c.624A>T
n.2127A>T
c.2392A>T (p.Ser798Cys)
c.856A>T (p.Ser286Cys)
c.859A>T (p.Ser287Cys)
n.2660A>T
c.2284A>T (p.Ser762Cys)
c.2341A>T (p.Ser781Cys)
n.2433A>T
n.2272A>T
c.1867A>T (p.Ser623Cys)
c.1597A>T (p.Ser533Cys)
n.2612A>T
1g.5887376T>CCA338058696NPHP4c.2395A>G (p.Ser799Gly)
c.*1296A>G (n.*1296A>G)
c.624A>G
n.2127A>G
c.2392A>G (p.Ser798Gly)
c.856A>G (p.Ser286Gly)
c.859A>G (p.Ser287Gly)
n.2660A>G
c.2284A>G (p.Ser762Gly)
c.2341A>G (p.Ser781Gly)
n.2433A>G
n.2272A>G
c.1867A>G (p.Ser623Gly)
c.1597A>G (p.Ser533Gly)
n.2612A>G
1g.5887376T>GCA338058697NPHP4c.2395A>C (p.Ser799Arg)
c.*1296A>C (n.*1296A>C)
c.624A>C
n.2127A>C
c.2392A>C (p.Ser798Arg)
c.856A>C (p.Ser286Arg)
c.859A>C (p.Ser287Arg)
n.2660A>C
c.2284A>C (p.Ser762Arg)
c.2341A>C (p.Ser781Arg)
n.2433A>C
n.2272A>C
c.1867A>C (p.Ser623Arg)
c.1597A>C (p.Ser533Arg)
n.2612A>C
1g.5887377C>ACA415790542NPHP4c.2394G>T (p.Val798=)
c.*1295G>T (n.*1295G>T)
c.623G>T
n.2126G>T
c.2391G>T (p.Val797=)
c.855G>T (p.Val285=)
c.858G>T (p.Val286=)
n.2659G>T
c.2283G>T (p.Val761=)
c.2340G>T (p.Val780=)
n.2432G>T
n.2271G>T
c.1866G>T (p.Val622=)
c.1596G>T (p.Val532=)
n.2611G>T
1g.5887377C=CA1151225286NPHP4c.2394G= (p.Val798=)
c.*1295G= (n.*1295G=)
c.623G=
n.2126G=
c.2391G= (p.Val797=)
c.855G= (p.Val285=)
c.858G= (p.Val286=)
n.2659G=
c.2283G= (p.Val761=)
c.2340G= (p.Val780=)
n.2432G=
n.2271G=
c.1866G= (p.Val622=)
c.1596G= (p.Val532=)
n.2611G=
1g.5887377C>GCA415790543NPHP4c.2394G>C (p.Val798=)
c.*1295G>C (n.*1295G>C)
c.623G>C
n.2126G>C
c.2391G>C (p.Val797=)
c.855G>C (p.Val285=)
c.858G>C (p.Val286=)
n.2659G>C
c.2283G>C (p.Val761=)
c.2340G>C (p.Val780=)
n.2432G>C
n.2271G>C
c.1866G>C (p.Val622=)
c.1596G>C (p.Val532=)
n.2611G>C
1g.5887377C>TCA415790544NPHP4c.2394G>A (p.Val798=)
c.*1295G>A (n.*1295G>A)
c.623G>A
n.2126G>A
c.2391G>A (p.Val797=)
c.855G>A (p.Val285=)
c.858G>A (p.Val286=)
n.2659G>A
c.2283G>A (p.Val761=)
c.2340G>A (p.Val780=)
n.2432G>A
n.2271G>A
c.1866G>A (p.Val622=)
c.1596G>A (p.Val532=)
n.2611G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.5887378A>CCA338058698NPHP4c.2393T>G (p.Val798Gly)
c.*1294T>G (n.*1294T>G)
c.622T>G
n.2125T>G
c.2390T>G (p.Val797Gly)
c.854T>G (p.Val285Gly)
c.857T>G (p.Val286Gly)
n.2658T>G
c.2282T>G (p.Val761Gly)
c.2339T>G (p.Val780Gly)
n.2431T>G
n.2270T>G
c.1865T>G (p.Val622Gly)
c.1595T>G (p.Val532Gly)
n.2610T>G
1g.5887378A>GCA338058699NPHP4c.2393T>C (p.Val798Ala)
c.*1294T>C (n.*1294T>C)
c.622T>C
n.2125T>C
c.2390T>C (p.Val797Ala)
c.854T>C (p.Val285Ala)
c.857T>C (p.Val286Ala)
n.2658T>C
c.2282T>C (p.Val761Ala)
c.2339T>C (p.Val780Ala)
n.2431T>C
n.2270T>C
c.1865T>C (p.Val622Ala)
c.1595T>C (p.Val532Ala)
n.2610T>C
 COSMIC
1g.5887378A>TCA338058700NPHP4c.2393T>A (p.Val798Glu)
c.*1294T>A (n.*1294T>A)
c.622T>A
n.2125T>A
c.2390T>A (p.Val797Glu)
c.854T>A (p.Val285Glu)
c.857T>A (p.Val286Glu)
n.2658T>A
c.2282T>A (p.Val761Glu)
c.2339T>A (p.Val780Glu)
n.2431T>A
n.2270T>A
c.1865T>A (p.Val622Glu)
c.1595T>A (p.Val532Glu)
n.2610T>A
1g.5887379C>ACA338058701NPHP4c.2392G>T (p.Val798Leu)
c.*1293G>T (n.*1293G>T)
c.621G>T
n.2124G>T
c.2389G>T (p.Val797Leu)
c.853G>T (p.Val285Leu)
c.856G>T (p.Val286Leu)
n.2657G>T
c.2281G>T (p.Val761Leu)
c.2338G>T (p.Val780Leu)
n.2430G>T
n.2269G>T
c.1864G>T (p.Val622Leu)
c.1594G>T (p.Val532Leu)
n.2609G>T
1g.5887379C>GCA338058702NPHP4c.2392G>C (p.Val798Leu)
c.*1293G>C (n.*1293G>C)
c.621G>C
n.2124G>C
c.2389G>C (p.Val797Leu)
c.853G>C (p.Val285Leu)
c.856G>C (p.Val286Leu)
n.2657G>C
c.2281G>C (p.Val761Leu)
c.2338G>C (p.Val780Leu)
n.2430G>C
n.2269G>C
c.1864G>C (p.Val622Leu)
c.1594G>C (p.Val532Leu)
n.2609G>C
1g.5887379C>TCA338058703NPHP4c.2392G>A (p.Val798Met)
c.*1293G>A (n.*1293G>A)
c.621G>A
n.2124G>A
c.2389G>A (p.Val797Met)
c.853G>A (p.Val285Met)
c.856G>A (p.Val286Met)
n.2657G>A
c.2281G>A (p.Val761Met)
c.2338G>A (p.Val780Met)
n.2430G>A
n.2269G>A
c.1864G>A (p.Val622Met)
c.1594G>A (p.Val532Met)
n.2609G>A
1g.5887380C>ACA415790545NPHP4c.2391G>T (p.Val797=)
c.*1292G>T (n.*1292G>T)
c.620G>T
n.2123G>T
c.2388G>T (p.Val796=)
c.852G>T (p.Val284=)
c.855G>T (p.Val285=)
n.2656G>T
c.2280G>T (p.Val760=)
c.2337G>T (p.Val779=)
n.2429G>T
n.2268G>T
c.1863G>T (p.Val621=)
c.1593G>T (p.Val531=)
n.2608G>T
1g.5887380C>GCA415790547NPHP4c.2391G>C (p.Val797=)
c.*1292G>C (n.*1292G>C)
c.620G>C
n.2123G>C
c.2388G>C (p.Val796=)
c.852G>C (p.Val284=)
c.855G>C (p.Val285=)
n.2656G>C
c.2280G>C (p.Val760=)
c.2337G>C (p.Val779=)
n.2429G>C
n.2268G>C
c.1863G>C (p.Val621=)
c.1593G>C (p.Val531=)
n.2608G>C
1g.5887380C>TCA415790546NPHP4c.2391G>A (p.Val797=)
c.*1292G>A (n.*1292G>A)
c.620G>A
n.2123G>A
c.2388G>A (p.Val796=)
c.852G>A (p.Val284=)
c.855G>A (p.Val285=)
n.2656G>A
c.2280G>A (p.Val760=)
c.2337G>A (p.Val779=)
n.2429G>A
n.2268G>A
c.1863G>A (p.Val621=)
c.1593G>A (p.Val531=)
n.2608G>A
1g.5887381A>CCA338058704NPHP4c.2390T>G (p.Val797Gly)
c.*1291T>G (n.*1291T>G)
c.619T>G
n.2122T>G
c.2387T>G (p.Val796Gly)
c.851T>G (p.Val284Gly)
c.854T>G (p.Val285Gly)
n.2655T>G
c.2279T>G (p.Val760Gly)
c.2336T>G (p.Val779Gly)
n.2428T>G
n.2267T>G
c.1862T>G (p.Val621Gly)
c.1592T>G (p.Val531Gly)
n.2607T>G
1g.5887381A>GCA338058705NPHP4c.2390T>C (p.Val797Ala)
c.*1291T>C (n.*1291T>C)
c.619T>C
n.2122T>C
c.2387T>C (p.Val796Ala)
c.851T>C (p.Val284Ala)
c.854T>C (p.Val285Ala)
n.2655T>C
c.2279T>C (p.Val760Ala)
c.2336T>C (p.Val779Ala)
n.2428T>C
n.2267T>C
c.1862T>C (p.Val621Ala)
c.1592T>C (p.Val531Ala)
n.2607T>C
1g.5887381A>TCA338058706NPHP4c.2390T>A (p.Val797Glu)
c.*1291T>A (n.*1291T>A)
c.619T>A
n.2122T>A
c.2387T>A (p.Val796Glu)
c.851T>A (p.Val284Glu)
c.854T>A (p.Val285Glu)
n.2655T>A
c.2279T>A (p.Val760Glu)
c.2336T>A (p.Val779Glu)
n.2428T>A
n.2267T>A
c.1862T>A (p.Val621Glu)
c.1592T>A (p.Val531Glu)
n.2607T>A
1g.5887382C>ACA338058707NPHP4c.2389G>T (p.Val797Leu)
c.*1290G>T (n.*1290G>T)
c.618G>T
n.2121G>T
c.2386G>T (p.Val796Leu)
c.850G>T (p.Val284Leu)
c.853G>T (p.Val285Leu)
n.2654G>T
c.2278G>T (p.Val760Leu)
c.2335G>T (p.Val779Leu)
n.2427G>T
n.2266G>T
c.1861G>T (p.Val621Leu)
c.1591G>T (p.Val531Leu)
n.2606G>T
1g.5887382C=CA1143809394NPHP4c.2389G= (p.Val797=)
c.*1290G= (n.*1290G=)
c.618G=
n.2121G=
c.2386G= (p.Val796=)
c.850G= (p.Val284=)
c.853G= (p.Val285=)
n.2654G=
c.2278G= (p.Val760=)
c.2335G= (p.Val779=)
n.2427G=
n.2266G=
c.1861G= (p.Val621=)
c.1591G= (p.Val531=)
n.2606G=
1g.5887382C>GCA338058708NPHP4c.2389G>C (p.Val797Leu)
c.*1290G>C (n.*1290G>C)
c.618G>C
n.2121G>C
c.2386G>C (p.Val796Leu)
c.850G>C (p.Val284Leu)
c.853G>C (p.Val285Leu)
n.2654G>C
c.2278G>C (p.Val760Leu)
c.2335G>C (p.Val779Leu)
n.2427G>C
n.2266G>C
c.1861G>C (p.Val621Leu)
c.1591G>C (p.Val531Leu)
n.2606G>C
 gnomAD v4
1g.5887382C>TCA554134NPHP4c.2389G>A (p.Val797Met)
c.*1290G>A (n.*1290G>A)
c.618G>A
n.2121G>A
c.2386G>A (p.Val796Met)
c.850G>A (p.Val284Met)
c.853G>A (p.Val285Met)
n.2654G>A
c.2278G>A (p.Val760Met)
c.2335G>A (p.Val779Met)
n.2427G>A
n.2266G>A
c.1861G>A (p.Val621Met)
c.1591G>A (p.Val531Met)
n.2606G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5887382_5887385delinsCCATCA1151225289NPHP4c.2386_2389delinsATGG (p.Met796=)
c.*1287_*1290delinsATGG (n.*1287_*1290delinsATGG)
c.615_618delinsATGG
n.2118_2121delinsATGG
c.2383_2386delinsATGG (p.Met795=)
c.847_850delinsATGG (p.Met283=)
c.850_853delinsATGG (p.Met284=)
n.2651_2654delinsATGG
c.2275_2278delinsATGG (p.Met759=)
c.2332_2335delinsATGG (p.Met778=)
n.2424_2427delinsATGG
n.2263_2266delinsATGG
c.1858_1861delinsATGG (p.Met620=)
c.1588_1591delinsATGG (p.Met530=)
n.2603_2606delinsATGG
1g.5887383C>ACA338058709NPHP4c.2388G>T (p.Met796Ile)
c.*1289G>T (n.*1289G>T)
c.617G>T
n.2120G>T
c.2385G>T (p.Met795Ile)
c.849G>T (p.Met283Ile)
c.852G>T (p.Met284Ile)
n.2653G>T
c.2277G>T (p.Met759Ile)
c.2334G>T (p.Met778Ile)
n.2426G>T
n.2265G>T
c.1860G>T (p.Met620Ile)
c.1590G>T (p.Met530Ile)
n.2605G>T
1g.5887383C>GCA338058710NPHP4c.2388G>C (p.Met796Ile)
c.*1289G>C (n.*1289G>C)
c.617G>C
n.2120G>C
c.2385G>C (p.Met795Ile)
c.849G>C (p.Met283Ile)
c.852G>C (p.Met284Ile)
n.2653G>C
c.2277G>C (p.Met759Ile)
c.2334G>C (p.Met778Ile)
n.2426G>C
n.2265G>C
c.1860G>C (p.Met620Ile)
c.1590G>C (p.Met530Ile)
n.2605G>C
1g.5887383C>TCA338058711NPHP4c.2388G>A (p.Met796Ile)
c.*1289G>A (n.*1289G>A)
c.617G>A
n.2120G>A
c.2385G>A (p.Met795Ile)
c.849G>A (p.Met283Ile)
c.852G>A (p.Met284Ile)
n.2653G>A
c.2277G>A (p.Met759Ile)
c.2334G>A (p.Met778Ile)
n.2426G>A
n.2265G>A
c.1860G>A (p.Met620Ile)
c.1590G>A (p.Met530Ile)
n.2605G>A
1g.5887383_5887385delCA554135NPHP4c.2386_2388del (p.Met796del)
c.*1287_*1289del (n.*1287_*1289del)
c.615_617del
n.2118_2120del
c.2383_2385del (p.Met795del)
c.847_849del (p.Met283del)
c.850_852del (p.Met284del)
n.2651_2653del
c.2275_2277del (p.Met759del)
c.2332_2334del (p.Met778del)
n.2424_2426del
n.2263_2265del
c.1858_1860del (p.Met620del)
c.1588_1590del (p.Met530del)
n.2603_2605del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5887384A=CA1143938880NPHP4c.2387T= (p.Met796=)
c.*1288T= (n.*1288T=)
c.616T=
n.2119T=
c.2384T= (p.Met795=)
c.848T= (p.Met283=)
c.851T= (p.Met284=)
n.2652T=
c.2276T= (p.Met759=)
c.2333T= (p.Met778=)
n.2425T=
n.2264T=
c.1859T= (p.Met620=)
c.1589T= (p.Met530=)
n.2604T=
1g.5887384A>CCA338058712NPHP4c.2387T>G (p.Met796Arg)
c.*1288T>G (n.*1288T>G)
c.616T>G
n.2119T>G
c.2384T>G (p.Met795Arg)
c.848T>G (p.Met283Arg)
c.851T>G (p.Met284Arg)
n.2652T>G
c.2276T>G (p.Met759Arg)
c.2333T>G (p.Met778Arg)
n.2425T>G
n.2264T>G
c.1859T>G (p.Met620Arg)
c.1589T>G (p.Met530Arg)
n.2604T>G
1g.5887384A>GCA554136NPHP4c.2387T>C (p.Met796Thr)
c.*1288T>C (n.*1288T>C)
c.616T>C
n.2119T>C
c.2384T>C (p.Met795Thr)
c.848T>C (p.Met283Thr)
c.851T>C (p.Met284Thr)
n.2652T>C
c.2276T>C (p.Met759Thr)
c.2333T>C (p.Met778Thr)
n.2425T>C
n.2264T>C
c.1859T>C (p.Met620Thr)
c.1589T>C (p.Met530Thr)
n.2604T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5887384A>TCA338058713NPHP4c.2387T>A (p.Met796Lys)
c.*1288T>A (n.*1288T>A)
c.616T>A
n.2119T>A
c.2384T>A (p.Met795Lys)
c.848T>A (p.Met283Lys)
c.851T>A (p.Met284Lys)
n.2652T>A
c.2276T>A (p.Met759Lys)
c.2333T>A (p.Met778Lys)
n.2425T>A
n.2264T>A
c.1859T>A (p.Met620Lys)
c.1589T>A (p.Met530Lys)
n.2604T>A
1g.5887385T>ACA338058714NPHP4c.2386A>T (p.Met796Leu)
c.*1287A>T (n.*1287A>T)
c.615A>T
n.2118A>T
c.2383A>T (p.Met795Leu)
c.847A>T (p.Met283Leu)
c.850A>T (p.Met284Leu)
n.2651A>T
c.2275A>T (p.Met759Leu)
c.2332A>T (p.Met778Leu)
n.2424A>T
n.2263A>T
c.1858A>T (p.Met620Leu)
c.1588A>T (p.Met530Leu)
n.2603A>T
1g.5887385T>CCA554137NPHP4c.2386A>G (p.Met796Val)
c.*1287A>G (n.*1287A>G)
c.615A>G
n.2118A>G
c.2383A>G (p.Met795Val)
c.847A>G (p.Met283Val)
c.850A>G (p.Met284Val)
n.2651A>G
c.2275A>G (p.Met759Val)
c.2332A>G (p.Met778Val)
n.2424A>G
n.2263A>G
c.1858A>G (p.Met620Val)
c.1588A>G (p.Met530Val)
n.2603A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.5887385T>GCA338058715NPHP4c.2386A>C (p.Met796Leu)
c.*1287A>C (n.*1287A>C)
c.615A>C
n.2118A>C
c.2383A>C (p.Met795Leu)
c.847A>C (p.Met283Leu)
c.850A>C (p.Met284Leu)
n.2651A>C
c.2275A>C (p.Met759Leu)
c.2332A>C (p.Met778Leu)
n.2424A>C
n.2263A>C
c.1858A>C (p.Met620Leu)
c.1588A>C (p.Met530Leu)
n.2603A>C
1g.5887385T=CA1151225298NPHP4c.2386A= (p.Met796=)
c.*1287A= (n.*1287A=)
c.615A=
n.2118A=
c.2383A= (p.Met795=)
c.847A= (p.Met283=)
c.850A= (p.Met284=)
n.2651A=
c.2275A= (p.Met759=)
c.2332A= (p.Met778=)
n.2424A=
n.2263A=
c.1858A= (p.Met620=)
c.1588A= (p.Met530=)
n.2603A=
1g.5887386G>ACA415790548NPHP4c.2385C>T (p.Asn795=)
c.*1286C>T (n.*1286C>T)
c.614C>T
n.2117C>T
c.2382C>T (p.Asn794=)
c.846C>T (p.Asn282=)
c.849C>T (p.Asn283=)
n.2650C>T
c.2274C>T (p.Asn758=)
c.2331C>T (p.Asn777=)
n.2423C>T
n.2262C>T
c.1857C>T (p.Asn619=)
c.1587C>T (p.Asn529=)
n.2602C>T
1g.5887386G>CCA338058716NPHP4c.2385C>G (p.Asn795Lys)
c.*1286C>G (n.*1286C>G)
c.614C>G
n.2117C>G
c.2382C>G (p.Asn794Lys)
c.846C>G (p.Asn282Lys)
c.849C>G (p.Asn283Lys)
n.2650C>G
c.2274C>G (p.Asn758Lys)
c.2331C>G (p.Asn777Lys)
n.2423C>G
n.2262C>G
c.1857C>G (p.Asn619Lys)
c.1587C>G (p.Asn529Lys)
n.2602C>G
1g.5887386G>TCA338058717NPHP4c.2385C>A (p.Asn795Lys)
c.*1286C>A (n.*1286C>A)
c.614C>A
n.2117C>A
c.2382C>A (p.Asn794Lys)
c.846C>A (p.Asn282Lys)
c.849C>A (p.Asn283Lys)
n.2650C>A
c.2274C>A (p.Asn758Lys)
c.2331C>A (p.Asn777Lys)
n.2423C>A
n.2262C>A
c.1857C>A (p.Asn619Lys)
c.1587C>A (p.Asn529Lys)
n.2602C>A
1g.5887387T>ACA338058718NPHP4c.2384A>T (p.Asn795Ile)
c.*1285A>T (n.*1285A>T)
c.613A>T
n.2116A>T
c.2381A>T (p.Asn794Ile)
c.845A>T (p.Asn282Ile)
c.848A>T (p.Asn283Ile)
n.2649A>T
c.2273A>T (p.Asn758Ile)
c.2330A>T (p.Asn777Ile)
n.2422A>T
n.2261A>T
c.1856A>T (p.Asn619Ile)
c.1586A>T (p.Asn529Ile)
n.2601A>T
1g.5887387T>CCA338058719NPHP4c.2384A>G (p.Asn795Ser)
c.*1285A>G (n.*1285A>G)
c.613A>G
n.2116A>G
c.2381A>G (p.Asn794Ser)
c.845A>G (p.Asn282Ser)
c.848A>G (p.Asn283Ser)
n.2649A>G
c.2273A>G (p.Asn758Ser)
c.2330A>G (p.Asn777Ser)
n.2422A>G
n.2261A>G
c.1856A>G (p.Asn619Ser)
c.1586A>G (p.Asn529Ser)
n.2601A>G
 gnomAD v4
1g.5887387T>GCA338058720NPHP4c.2384A>C (p.Asn795Thr)
c.*1285A>C (n.*1285A>C)
c.613A>C
n.2116A>C
c.2381A>C (p.Asn794Thr)
c.845A>C (p.Asn282Thr)
c.848A>C (p.Asn283Thr)
n.2649A>C
c.2273A>C (p.Asn758Thr)
c.2330A>C (p.Asn777Thr)
n.2422A>C
n.2261A>C
c.1856A>C (p.Asn619Thr)
c.1586A>C (p.Asn529Thr)
n.2601A>C
1g.5887388T>ACA338058722NPHP4c.2383A>T (p.Asn795Tyr)
c.*1284A>T (n.*1284A>T)
c.612A>T
n.2115A>T
c.2380A>T (p.Asn794Tyr)
c.844A>T (p.Asn282Tyr)
c.847A>T (p.Asn283Tyr)
n.2648A>T
c.2272A>T (p.Asn758Tyr)
c.2329A>T (p.Asn777Tyr)
n.2421A>T
n.2260A>T
c.1855A>T (p.Asn619Tyr)
c.1585A>T (p.Asn529Tyr)
n.2600A>T
1g.5887388T>CCA338058723NPHP4c.2383A>G (p.Asn795Asp)
c.*1284A>G (n.*1284A>G)
c.612A>G
n.2115A>G
c.2380A>G (p.Asn794Asp)
c.844A>G (p.Asn282Asp)
c.847A>G (p.Asn283Asp)
n.2648A>G
c.2272A>G (p.Asn758Asp)
c.2329A>G (p.Asn777Asp)
n.2421A>G
n.2260A>G
c.1855A>G (p.Asn619Asp)
c.1585A>G (p.Asn529Asp)
n.2600A>G
1g.5887388T>GCA338058721NPHP4c.2383A>C (p.Asn795His)
c.*1284A>C (n.*1284A>C)
c.612A>C
n.2115A>C
c.2380A>C (p.Asn794His)
c.844A>C (p.Asn282His)
c.847A>C (p.Asn283His)
n.2648A>C
c.2272A>C (p.Asn758His)
c.2329A>C (p.Asn777His)
n.2421A>C
n.2260A>C
c.1855A>C (p.Asn619His)
c.1585A>C (p.Asn529His)
n.2600A>C
1g.5887389G>ACA415790549NPHP4c.2382C>T (p.Asp794=)
c.*1283C>T (n.*1283C>T)
c.611C>T
n.2114C>T
c.2379C>T (p.Asp793=)
c.843C>T (p.Asp281=)
c.846C>T (p.Asp282=)
n.2647C>T
c.2271C>T (p.Asp757=)
c.2328C>T (p.Asp776=)
n.2420C>T
n.2259C>T
c.1854C>T (p.Asp618=)
c.1584C>T (p.Asp528=)
n.2599C>T
1g.5887389G>CCA338058725NPHP4c.2382C>G (p.Asp794Glu)
c.*1283C>G (n.*1283C>G)
c.611C>G
n.2114C>G
c.2379C>G (p.Asp793Glu)
c.843C>G (p.Asp281Glu)
c.846C>G (p.Asp282Glu)
n.2647C>G
c.2271C>G (p.Asp757Glu)
c.2328C>G (p.Asp776Glu)
n.2420C>G
n.2259C>G
c.1854C>G (p.Asp618Glu)
c.1584C>G (p.Asp528Glu)
n.2599C>G
1g.5887389G>TCA338058724NPHP4c.2382C>A (p.Asp794Glu)
c.*1283C>A (n.*1283C>A)
c.611C>A
n.2114C>A
c.2379C>A (p.Asp793Glu)
c.843C>A (p.Asp281Glu)
c.846C>A (p.Asp282Glu)
n.2647C>A
c.2271C>A (p.Asp757Glu)
c.2328C>A (p.Asp776Glu)
n.2420C>A
n.2259C>A
c.1854C>A (p.Asp618Glu)
c.1584C>A (p.Asp528Glu)
n.2599C>A
1g.5887390T>ACA338058726NPHP4c.2381A>T (p.Asp794Val)
c.*1282A>T (n.*1282A>T)
c.610A>T
n.2113A>T
c.2378A>T (p.Asp793Val)
c.842A>T (p.Asp281Val)
c.845A>T (p.Asp282Val)
n.2646A>T
c.2270A>T (p.Asp757Val)
c.2327A>T (p.Asp776Val)
n.2419A>T
n.2258A>T
c.1853A>T (p.Asp618Val)
c.1583A>T (p.Asp528Val)
n.2598A>T
1g.5887390T>CCA554138NPHP4c.2381A>G (p.Asp794Gly)
c.*1282A>G (n.*1282A>G)
c.610A>G
n.2113A>G
c.2378A>G (p.Asp793Gly)
c.842A>G (p.Asp281Gly)
c.845A>G (p.Asp282Gly)
n.2646A>G
c.2270A>G (p.Asp757Gly)
c.2327A>G (p.Asp776Gly)
n.2419A>G
n.2258A>G
c.1853A>G (p.Asp618Gly)
c.1583A>G (p.Asp528Gly)
n.2598A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.5887390T>GCA338058727NPHP4c.2381A>C (p.Asp794Ala)
c.*1282A>C (n.*1282A>C)
c.610A>C
n.2113A>C
c.2378A>C (p.Asp793Ala)
c.842A>C (p.Asp281Ala)
c.845A>C (p.Asp282Ala)
n.2646A>C
c.2270A>C (p.Asp757Ala)
c.2327A>C (p.Asp776Ala)
n.2419A>C
n.2258A>C
c.1853A>C (p.Asp618Ala)
c.1583A>C (p.Asp528Ala)
n.2598A>C
1g.5887390T=CA1151225302NPHP4c.2381A= (p.Asp794=)
c.*1282A= (n.*1282A=)
c.610A=
n.2113A=
c.2378A= (p.Asp793=)
c.842A= (p.Asp281=)
c.845A= (p.Asp282=)
n.2646A=
c.2270A= (p.Asp757=)
c.2327A= (p.Asp776=)
n.2419A=
n.2258A=
c.1853A= (p.Asp618=)
c.1583A= (p.Asp528=)
n.2598A=
1g.5887391C>ACA17147424NPHP4c.2380G>T (p.Asp794Tyr)
c.*1281G>T (n.*1281G>T)
c.609G>T
n.2112G>T
c.2377G>T (p.Asp793Tyr)
c.841G>T (p.Asp281Tyr)
c.844G>T (p.Asp282Tyr)
n.2645G>T
c.2269G>T (p.Asp757Tyr)
c.2326G>T (p.Asp776Tyr)
n.2418G>T
n.2257G>T
c.1852G>T (p.Asp618Tyr)
c.1582G>T (p.Asp528Tyr)
n.2597G>T
 dbSNP
1g.5887391C=CA1151225307NPHP4c.2380G= (p.Asp794=)
c.*1281G= (n.*1281G=)
c.609G=
n.2112G=
c.2377G= (p.Asp793=)
c.841G= (p.Asp281=)
c.844G= (p.Asp282=)
n.2645G=
c.2269G= (p.Asp757=)
c.2326G= (p.Asp776=)
n.2418G=
n.2257G=
c.1852G= (p.Asp618=)
c.1582G= (p.Asp528=)
n.2597G=
1g.5887391C>GCA338058728NPHP4c.2380G>C (p.Asp794His)
c.*1281G>C (n.*1281G>C)
c.609G>C
n.2112G>C
c.2377G>C (p.Asp793His)
c.841G>C (p.Asp281His)
c.844G>C (p.Asp282His)
n.2645G>C
c.2269G>C (p.Asp757His)
c.2326G>C (p.Asp776His)
n.2418G>C
n.2257G>C
c.1852G>C (p.Asp618His)
c.1582G>C (p.Asp528His)
n.2597G>C
1g.5887391C>TCA338058729NPHP4c.2380G>A (p.Asp794Asn)
c.*1281G>A (n.*1281G>A)
c.609G>A
n.2112G>A
c.2377G>A (p.Asp793Asn)
c.841G>A (p.Asp281Asn)
c.844G>A (p.Asp282Asn)
n.2645G>A
c.2269G>A (p.Asp757Asn)
c.2326G>A (p.Asp776Asn)
n.2418G>A
n.2257G>A
c.1852G>A (p.Asp618Asn)
c.1582G>A (p.Asp528Asn)
n.2597G>A
1g.5887392C>ACA338058730NPHP4c.2379G>T (p.Gln793His)
c.*1280G>T (n.*1280G>T)
c.608G>T
n.2111G>T
c.2376G>T (p.Gln792His)
c.840G>T (p.Gln280His)
c.843G>T (p.Gln281His)
n.2644G>T
c.2268G>T (p.Gln756His)
c.2325G>T (p.Gln775His)
n.2417G>T
n.2256G>T
c.1851G>T (p.Gln617His)
c.1581G>T (p.Gln527His)
n.2596G>T
1g.5887392C>GCA338058731NPHP4c.2379G>C (p.Gln793His)
c.*1280G>C (n.*1280G>C)
c.608G>C
n.2111G>C
c.2376G>C (p.Gln792His)
c.840G>C (p.Gln280His)
c.843G>C (p.Gln281His)
n.2644G>C
c.2268G>C (p.Gln756His)
c.2325G>C (p.Gln775His)
n.2417G>C
n.2256G>C
c.1851G>C (p.Gln617His)
c.1581G>C (p.Gln527His)
n.2596G>C
1g.5887392C>TCA415790550NPHP4c.2379G>A (p.Gln793=)
c.*1280G>A (n.*1280G>A)
c.608G>A
n.2111G>A
c.2376G>A (p.Gln792=)
c.840G>A (p.Gln280=)
c.843G>A (p.Gln281=)
n.2644G>A
c.2268G>A (p.Gln756=)
c.2325G>A (p.Gln775=)
n.2417G>A
n.2256G>A
c.1851G>A (p.Gln617=)
c.1581G>A (p.Gln527=)
n.2596G>A
1g.5887393T>ACA338058732NPHP4c.2378A>T (p.Gln793Leu)
c.*1279A>T (n.*1279A>T)
c.607A>T
n.2110A>T
c.2375A>T (p.Gln792Leu)
c.839A>T (p.Gln280Leu)
c.842A>T (p.Gln281Leu)
n.2643A>T
c.2267A>T (p.Gln756Leu)
c.2324A>T (p.Gln775Leu)
n.2416A>T
n.2255A>T
c.1850A>T (p.Gln617Leu)
c.1580A>T (p.Gln527Leu)
n.2595A>T
1g.5887393T>CCA554139NPHP4c.2378A>G (p.Gln793Arg)
c.*1279A>G (n.*1279A>G)
c.607A>G
n.2110A>G
c.2375A>G (p.Gln792Arg)
c.839A>G (p.Gln280Arg)
c.842A>G (p.Gln281Arg)
n.2643A>G
c.2267A>G (p.Gln756Arg)
c.2324A>G (p.Gln775Arg)
n.2416A>G
n.2255A>G
c.1850A>G (p.Gln617Arg)
c.1580A>G (p.Gln527Arg)
n.2595A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.5887393T>GCA338058733NPHP4c.2378A>C (p.Gln793Pro)
c.*1279A>C (n.*1279A>C)
c.607A>C
n.2110A>C
c.2375A>C (p.Gln792Pro)
c.839A>C (p.Gln280Pro)
c.842A>C (p.Gln281Pro)
n.2643A>C
c.2267A>C (p.Gln756Pro)
c.2324A>C (p.Gln775Pro)
n.2416A>C
n.2255A>C
c.1850A>C (p.Gln617Pro)
c.1580A>C (p.Gln527Pro)
n.2595A>C
1g.5887393T=CA1143571292NPHP4c.2378A= (p.Gln793=)
c.*1279A= (n.*1279A=)
c.607A=
n.2110A=
c.2375A= (p.Gln792=)
c.839A= (p.Gln280=)
c.842A= (p.Gln281=)
n.2643A=
c.2267A= (p.Gln756=)
c.2324A= (p.Gln775=)
n.2416A=
n.2255A=
c.1850A= (p.Gln617=)
c.1580A= (p.Gln527=)
n.2595A=
1g.5887394G>ACA116183NPHP4c.2377C>T (p.Gln793Ter)
c.*1278C>T (n.*1278C>T)
c.606C>T
n.2109C>T
c.2374C>T (p.Gln792Ter)
c.838C>T (p.Gln280Ter)
c.841C>T (p.Gln281Ter)
n.2642C>T
c.2266C>T (p.Gln756Ter)
c.2323C>T (p.Gln775Ter)
n.2415C>T
n.2254C>T
c.1849C>T (p.Gln617Ter)
c.1579C>T (p.Gln527Ter)
n.2594C>T
 ClinVar dbSNP
1g.5887394G>CCA338058734NPHP4c.2377C>G (p.Gln793Glu)
c.*1278C>G (n.*1278C>G)
c.606C>G
n.2109C>G
c.2374C>G (p.Gln792Glu)
c.838C>G (p.Gln280Glu)
c.841C>G (p.Gln281Glu)
n.2642C>G
c.2266C>G (p.Gln756Glu)
c.2323C>G (p.Gln775Glu)
n.2415C>G
n.2254C>G
c.1849C>G (p.Gln617Glu)
c.1579C>G (p.Gln527Glu)
n.2594C>G
1g.5887394G=CA1141580545NPHP4c.2377C= (p.Gln793=)
c.*1278C= (n.*1278C=)
c.606C=
n.2109C=
c.2374C= (p.Gln792=)
c.838C= (p.Gln280=)
c.841C= (p.Gln281=)
n.2642C=
c.2266C= (p.Gln756=)
c.2323C= (p.Gln775=)
n.2415C=
n.2254C=
c.1849C= (p.Gln617=)
c.1579C= (p.Gln527=)
n.2594C=
1g.5887394G>TCA338058735NPHP4c.2377C>A (p.Gln793Lys)
c.*1278C>A (n.*1278C>A)
c.606C>A
n.2109C>A
c.2374C>A (p.Gln792Lys)
c.838C>A (p.Gln280Lys)
c.841C>A (p.Gln281Lys)
n.2642C>A
c.2266C>A (p.Gln756Lys)
c.2323C>A (p.Gln775Lys)
n.2415C>A
n.2254C>A
c.1849C>A (p.Gln617Lys)
c.1579C>A (p.Gln527Lys)
n.2594C>A
1g.5887395C>ACA17147432NPHP4c.2376G>T (p.Glu792Asp)
c.*1277G>T (n.*1277G>T)
c.605G>T
n.2108G>T
c.2373G>T (p.Glu791Asp)
c.837G>T (p.Glu279Asp)
c.840G>T (p.Glu280Asp)
n.2641G>T
c.2265G>T (p.Glu755Asp)
c.2322G>T (p.Glu774Asp)
n.2414G>T
n.2253G>T
c.1848G>T (p.Glu616Asp)
c.1578G>T (p.Glu526Asp)
n.2593G>T
 dbSNP gnomAD v3 gnomAD v4
1g.5887395C=CA1146746508NPHP4c.2376G= (p.Glu792=)
c.*1277G= (n.*1277G=)
c.605G=
n.2108G=
c.2373G= (p.Glu791=)
c.837G= (p.Glu279=)
c.840G= (p.Glu280=)
n.2641G=
c.2265G= (p.Glu755=)
c.2322G= (p.Glu774=)
n.2414G=
n.2253G=
c.1848G= (p.Glu616=)
c.1578G= (p.Glu526=)
n.2593G=
1g.5887395C>GCA338058736NPHP4c.2376G>C (p.Glu792Asp)
c.*1277G>C (n.*1277G>C)
c.605G>C
n.2108G>C
c.2373G>C (p.Glu791Asp)
c.837G>C (p.Glu279Asp)
c.840G>C (p.Glu280Asp)
n.2641G>C
c.2265G>C (p.Glu755Asp)
c.2322G>C (p.Glu774Asp)
n.2414G>C
n.2253G>C
c.1848G>C (p.Glu616Asp)
c.1578G>C (p.Glu526Asp)
n.2593G>C
1g.5887395C>TCA415790551NPHP4c.2376G>A (p.Glu792=)
c.*1277G>A (n.*1277G>A)
c.605G>A
n.2108G>A
c.2373G>A (p.Glu791=)
c.837G>A (p.Glu279=)
c.840G>A (p.Glu280=)
n.2641G>A
c.2265G>A (p.Glu755=)
c.2322G>A (p.Glu774=)
n.2414G>A
n.2253G>A
c.1848G>A (p.Glu616=)
c.1578G>A (p.Glu526=)
n.2593G>A
1g.5887396T>ACA338058739NPHP4c.2375A>T (p.Glu792Val)
c.*1276A>T (n.*1276A>T)
c.604A>T
n.2107A>T
c.2372A>T (p.Glu791Val)
c.836A>T (p.Glu279Val)
c.839A>T (p.Glu280Val)
n.2640A>T
c.2264A>T (p.Glu755Val)
c.2321A>T (p.Glu774Val)
n.2413A>T
n.2252A>T
c.1847A>T (p.Glu616Val)
c.1577A>T (p.Glu526Val)
n.2592A>T
1g.5887396T>CCA338058737NPHP4c.2375A>G (p.Glu792Gly)
c.*1276A>G (n.*1276A>G)
c.604A>G
n.2107A>G
c.2372A>G (p.Glu791Gly)
c.836A>G (p.Glu279Gly)
c.839A>G (p.Glu280Gly)
n.2640A>G
c.2264A>G (p.Glu755Gly)
c.2321A>G (p.Glu774Gly)
n.2413A>G
n.2252A>G
c.1847A>G (p.Glu616Gly)
c.1577A>G (p.Glu526Gly)
n.2592A>G
1g.5887396T>GCA338058738NPHP4c.2375A>C (p.Glu792Ala)
c.*1276A>C (n.*1276A>C)
c.604A>C
n.2107A>C
c.2372A>C (p.Glu791Ala)
c.836A>C (p.Glu279Ala)
c.839A>C (p.Glu280Ala)
n.2640A>C
c.2264A>C (p.Glu755Ala)
c.2321A>C (p.Glu774Ala)
n.2413A>C
n.2252A>C
c.1847A>C (p.Glu616Ala)
c.1577A>C (p.Glu526Ala)
n.2592A>C
1g.5887397C>ACA338058740NPHP4c.2374G>T (p.Glu792Ter)
c.*1275G>T (n.*1275G>T)
c.603G>T
n.2106G>T
c.2371G>T (p.Glu791Ter)
c.835G>T (p.Glu279Ter)
c.838G>T (p.Glu280Ter)
n.2639G>T
c.2263G>T (p.Glu755Ter)
c.2320G>T (p.Glu774Ter)
n.2412G>T
n.2251G>T
c.1846G>T (p.Glu616Ter)
c.1576G>T (p.Glu526Ter)
n.2591G>T
 dbSNP gnomAD v3 gnomAD v4
1g.5887397C=CA1151225314NPHP4c.2374G= (p.Glu792=)
c.*1275G= (n.*1275G=)
c.603G=
n.2106G=
c.2371G= (p.Glu791=)
c.835G= (p.Glu279=)
c.838G= (p.Glu280=)
n.2639G=
c.2263G= (p.Glu755=)
c.2320G= (p.Glu774=)
n.2412G=
n.2251G=
c.1846G= (p.Glu616=)
c.1576G= (p.Glu526=)
n.2591G=
1g.5887397C>GCA338058741NPHP4c.2374G>C (p.Glu792Gln)
c.*1275G>C (n.*1275G>C)
c.603G>C
n.2106G>C
c.2371G>C (p.Glu791Gln)
c.835G>C (p.Glu279Gln)
c.838G>C (p.Glu280Gln)
n.2639G>C
c.2263G>C (p.Glu755Gln)
c.2320G>C (p.Glu774Gln)
n.2412G>C
n.2251G>C
c.1846G>C (p.Glu616Gln)
c.1576G>C (p.Glu526Gln)
n.2591G>C
 gnomAD v4
1g.5887397C>TCA554140NPHP4c.2374G>A (p.Glu792Lys)
c.*1275G>A (n.*1275G>A)
c.603G>A
n.2106G>A
c.2371G>A (p.Glu791Lys)
c.835G>A (p.Glu279Lys)
c.838G>A (p.Glu280Lys)
n.2639G>A
c.2263G>A (p.Glu755Lys)
c.2320G>A (p.Glu774Lys)
n.2412G>A
n.2251G>A
c.1846G>A (p.Glu616Lys)
c.1576G>A (p.Glu526Lys)
n.2591G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5887398G>ACA554141NPHP4c.2373C>T (p.Tyr791=)
c.*1274C>T (n.*1274C>T)
c.602C>T
n.2105C>T
c.2370C>T (p.Tyr790=)
c.834C>T (p.Tyr278=)
c.837C>T (p.Tyr279=)
n.2638C>T
c.2262C>T (p.Tyr754=)
c.2319C>T (p.Tyr773=)
n.2411C>T
n.2250C>T
c.1845C>T (p.Tyr615=)
c.1575C>T (p.Tyr525=)
n.2590C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.5887398G>CCA338058742NPHP4c.2373C>G (p.Tyr791Ter)
c.*1274C>G (n.*1274C>G)
c.602C>G
n.2105C>G
c.2370C>G (p.Tyr790Ter)
c.834C>G (p.Tyr278Ter)
c.837C>G (p.Tyr279Ter)
n.2638C>G
c.2262C>G (p.Tyr754Ter)
c.2319C>G (p.Tyr773Ter)
n.2411C>G
n.2250C>G
c.1845C>G (p.Tyr615Ter)
c.1575C>G (p.Tyr525Ter)
n.2590C>G
1g.5887398G=CA1143367317NPHP4c.2373C= (p.Tyr791=)
c.*1274C= (n.*1274C=)
c.602C=
n.2105C=
c.2370C= (p.Tyr790=)
c.834C= (p.Tyr278=)
c.837C= (p.Tyr279=)
n.2638C=
c.2262C= (p.Tyr754=)
c.2319C= (p.Tyr773=)
n.2411C=
n.2250C=
c.1845C= (p.Tyr615=)
c.1575C= (p.Tyr525=)
n.2590C=
1g.5887398G>TCA338058743NPHP4c.2373C>A (p.Tyr791Ter)
c.*1274C>A (n.*1274C>A)
c.602C>A
n.2105C>A
c.2370C>A (p.Tyr790Ter)
c.834C>A (p.Tyr278Ter)
c.837C>A (p.Tyr279Ter)
n.2638C>A
c.2262C>A (p.Tyr754Ter)
c.2319C>A (p.Tyr773Ter)
n.2411C>A
n.2250C>A
c.1845C>A (p.Tyr615Ter)
c.1575C>A (p.Tyr525Ter)
n.2590C>A
1g.5887399T>ACA338058744NPHP4c.2372A>T (p.Tyr791Phe)
c.*1273A>T (n.*1273A>T)
c.601A>T
n.2104A>T
c.2369A>T (p.Tyr790Phe)
c.833A>T (p.Tyr278Phe)
c.836A>T (p.Tyr279Phe)
n.2637A>T
c.2261A>T (p.Tyr754Phe)
c.2318A>T (p.Tyr773Phe)
n.2410A>T
n.2249A>T
c.1844A>T (p.Tyr615Phe)
c.1574A>T (p.Tyr525Phe)
n.2589A>T
1g.5887399T>CCA338058745NPHP4c.2372A>G (p.Tyr791Cys)
c.*1273A>G (n.*1273A>G)
c.601A>G
n.2104A>G
c.2369A>G (p.Tyr790Cys)
c.833A>G (p.Tyr278Cys)
c.836A>G (p.Tyr279Cys)
n.2637A>G
c.2261A>G (p.Tyr754Cys)
c.2318A>G (p.Tyr773Cys)
n.2410A>G
n.2249A>G
c.1844A>G (p.Tyr615Cys)
c.1574A>G (p.Tyr525Cys)
n.2589A>G
1g.5887399T>GCA338058746NPHP4c.2372A>C (p.Tyr791Ser)
c.*1273A>C (n.*1273A>C)
c.601A>C
n.2104A>C
c.2369A>C (p.Tyr790Ser)
c.833A>C (p.Tyr278Ser)
c.836A>C (p.Tyr279Ser)
n.2637A>C
c.2261A>C (p.Tyr754Ser)
c.2318A>C (p.Tyr773Ser)
n.2410A>C
n.2249A>C
c.1844A>C (p.Tyr615Ser)
c.1574A>C (p.Tyr525Ser)
n.2589A>C
1g.5887400A>CCA338058747NPHP4c.2371T>G (p.Tyr791Asp)
c.*1272T>G (n.*1272T>G)
c.600T>G
n.2103T>G
c.2368T>G (p.Tyr790Asp)
c.832T>G (p.Tyr278Asp)
c.835T>G (p.Tyr279Asp)
n.2636T>G
c.2260T>G (p.Tyr754Asp)
c.2317T>G (p.Tyr773Asp)
n.2409T>G
n.2248T>G
c.1843T>G (p.Tyr615Asp)
c.1573T>G (p.Tyr525Asp)
n.2588T>G
1g.5887400A>GCA338058748NPHP4c.2371T>C (p.Tyr791His)
c.*1272T>C (n.*1272T>C)
c.600T>C
n.2103T>C
c.2368T>C (p.Tyr790His)
c.832T>C (p.Tyr278His)
c.835T>C (p.Tyr279His)
n.2636T>C
c.2260T>C (p.Tyr754His)
c.2317T>C (p.Tyr773His)
n.2409T>C
n.2248T>C
c.1843T>C (p.Tyr615His)
c.1573T>C (p.Tyr525His)
n.2588T>C
1g.5887400A>TCA338058749NPHP4c.2371T>A (p.Tyr791Asn)
c.*1272T>A (n.*1272T>A)
c.600T>A
n.2103T>A
c.2368T>A (p.Tyr790Asn)
c.832T>A (p.Tyr278Asn)
c.835T>A (p.Tyr279Asn)
n.2636T>A
c.2260T>A (p.Tyr754Asn)
c.2317T>A (p.Tyr773Asn)
n.2409T>A
n.2248T>A
c.1843T>A (p.Tyr615Asn)
c.1573T>A (p.Tyr525Asn)
n.2588T>A
1g.5887401T>ACA338058750NPHP4c.2370A>T (p.Glu790Asp)
c.*1271A>T (n.*1271A>T)
c.599A>T
n.2102A>T
c.2367A>T (p.Glu789Asp)
c.831A>T (p.Glu277Asp)
c.834A>T (p.Glu278Asp)
n.2635A>T
c.2259A>T (p.Glu753Asp)
c.2316A>T (p.Glu772Asp)
n.2408A>T
n.2247A>T
c.1842A>T (p.Glu614Asp)
c.1572A>T (p.Glu524Asp)
n.2587A>T
1g.5887401T>CCA415790552NPHP4c.2370A>G (p.Glu790=)
c.*1271A>G (n.*1271A>G)
c.599A>G
n.2102A>G
c.2367A>G (p.Glu789=)
c.831A>G (p.Glu277=)
c.834A>G (p.Glu278=)
n.2635A>G
c.2259A>G (p.Glu753=)
c.2316A>G (p.Glu772=)
n.2408A>G
n.2247A>G
c.1842A>G (p.Glu614=)
c.1572A>G (p.Glu524=)
n.2587A>G
1g.5887401T>GCA338058751NPHP4c.2370A>C (p.Glu790Asp)
c.*1271A>C (n.*1271A>C)
c.599A>C
n.2102A>C
c.2367A>C (p.Glu789Asp)
c.831A>C (p.Glu277Asp)
c.834A>C (p.Glu278Asp)
n.2635A>C
c.2259A>C (p.Glu753Asp)
c.2316A>C (p.Glu772Asp)
n.2408A>C
n.2247A>C
c.1842A>C (p.Glu614Asp)
c.1572A>C (p.Glu524Asp)
n.2587A>C
1g.5887402T>ACA338058752NPHP4c.2369A>T (p.Glu790Val)
c.*1270A>T (n.*1270A>T)
c.598A>T
n.2101A>T
c.2366A>T (p.Glu789Val)
c.830A>T (p.Glu277Val)
c.833A>T (p.Glu278Val)
n.2634A>T
c.2258A>T (p.Glu753Val)
c.2315A>T (p.Glu772Val)
n.2407A>T
n.2246A>T
c.1841A>T (p.Glu614Val)
c.1571A>T (p.Glu524Val)
n.2586A>T
1g.5887402T>CCA338058753NPHP4c.2369A>G (p.Glu790Gly)
c.*1270A>G (n.*1270A>G)
c.598A>G
n.2101A>G
c.2366A>G (p.Glu789Gly)
c.830A>G (p.Glu277Gly)
c.833A>G (p.Glu278Gly)
n.2634A>G
c.2258A>G (p.Glu753Gly)
c.2315A>G (p.Glu772Gly)
n.2407A>G
n.2246A>G
c.1841A>G (p.Glu614Gly)
c.1571A>G (p.Glu524Gly)
n.2586A>G
1g.5887402T>GCA338058754NPHP4c.2369A>C (p.Glu790Ala)
c.*1270A>C (n.*1270A>C)
c.598A>C
n.2101A>C
c.2366A>C (p.Glu789Ala)
c.830A>C (p.Glu277Ala)
c.833A>C (p.Glu278Ala)
n.2634A>C
c.2258A>C (p.Glu753Ala)
c.2315A>C (p.Glu772Ala)
n.2407A>C
n.2246A>C
c.1841A>C (p.Glu614Ala)
c.1571A>C (p.Glu524Ala)
n.2586A>C
 dbSNP gnomAD v2 gnomAD v4
1g.5887402T=CA1151225322NPHP4c.2369A= (p.Glu790=)
c.*1270A= (n.*1270A=)
c.598A=
n.2101A=
c.2366A= (p.Glu789=)
c.830A= (p.Glu277=)
c.833A= (p.Glu278=)
n.2634A=
c.2258A= (p.Glu753=)
c.2315A= (p.Glu772=)
n.2407A=
n.2246A=
c.1841A= (p.Glu614=)
c.1571A= (p.Glu524=)
n.2586A=
1g.5887403C>ACA116181NPHP4c.2368G>T (p.Glu790Ter)
c.*1269G>T (n.*1269G>T)
c.597G>T
n.2100G>T
c.2365G>T (p.Glu789Ter)
c.829G>T (p.Glu277Ter)
c.832G>T (p.Glu278Ter)
n.2633G>T
c.2257G>T (p.Glu753Ter)
c.2314G>T (p.Glu772Ter)
n.2406G>T
n.2245G>T
c.1840G>T (p.Glu614Ter)
c.1570G>T (p.Glu524Ter)
n.2585G>T
 ClinVar dbSNP gnomAD v4
1g.5887403C=CA1141580546NPHP4c.2368G= (p.Glu790=)
c.*1269G= (n.*1269G=)
c.597G=
n.2100G=
c.2365G= (p.Glu789=)
c.829G= (p.Glu277=)
c.832G= (p.Glu278=)
n.2633G=
c.2257G= (p.Glu753=)
c.2314G= (p.Glu772=)
n.2406G=
n.2245G=
c.1840G= (p.Glu614=)
c.1570G= (p.Glu524=)
n.2585G=
1g.5887403C>GCA338058755NPHP4c.2368G>C (p.Glu790Gln)
c.*1269G>C (n.*1269G>C)
c.597G>C
n.2100G>C
c.2365G>C (p.Glu789Gln)
c.829G>C (p.Glu277Gln)
c.832G>C (p.Glu278Gln)
n.2633G>C
c.2257G>C (p.Glu753Gln)
c.2314G>C (p.Glu772Gln)
n.2406G>C
n.2245G>C
c.1840G>C (p.Glu614Gln)
c.1570G>C (p.Glu524Gln)
n.2585G>C
1g.5887403C>TCA338058756NPHP4c.2368G>A (p.Glu790Lys)
c.*1269G>A (n.*1269G>A)
c.597G>A
n.2100G>A
c.2365G>A (p.Glu789Lys)
c.829G>A (p.Glu277Lys)
c.832G>A (p.Glu278Lys)
n.2633G>A
c.2257G>A (p.Glu753Lys)
c.2314G>A (p.Glu772Lys)
n.2406G>A
n.2245G>A
c.1840G>A (p.Glu614Lys)
c.1570G>A (p.Glu524Lys)
n.2585G>A
1g.5887404A>CCA415790553NPHP4c.2367T>G (p.Thr789=)
c.*1268T>G (n.*1268T>G)
c.596T>G
n.2099T>G
c.2364T>G (p.Thr788=)
c.828T>G (p.Thr276=)
c.831T>G (p.Thr277=)
n.2632T>G
c.2256T>G (p.Thr752=)
c.2313T>G (p.Thr771=)
n.2405T>G
n.2244T>G
c.1839T>G (p.Thr613=)
c.1569T>G (p.Thr523=)
n.2584T>G
1g.5887404A>GCA415790554NPHP4c.2367T>C (p.Thr789=)
c.*1268T>C (n.*1268T>C)
c.596T>C
n.2099T>C
c.2364T>C (p.Thr788=)
c.828T>C (p.Thr276=)
c.831T>C (p.Thr277=)
n.2632T>C
c.2256T>C (p.Thr752=)
c.2313T>C (p.Thr771=)
n.2405T>C
n.2244T>C
c.1839T>C (p.Thr613=)
c.1569T>C (p.Thr523=)
n.2584T>C
1g.5887404A>TCA415790555NPHP4c.2367T>A (p.Thr789=)
c.*1268T>A (n.*1268T>A)
c.596T>A
n.2099T>A
c.2364T>A (p.Thr788=)
c.828T>A (p.Thr276=)
c.831T>A (p.Thr277=)
n.2632T>A
c.2256T>A (p.Thr752=)
c.2313T>A (p.Thr771=)
n.2405T>A
n.2244T>A
c.1839T>A (p.Thr613=)
c.1569T>A (p.Thr523=)
n.2584T>A
1g.5887405G>ACA338058757NPHP4c.2366C>T (p.Thr789Ile)
c.*1267C>T (n.*1267C>T)
c.595C>T
n.2098C>T
c.2363C>T (p.Thr788Ile)
c.827C>T (p.Thr276Ile)
c.830C>T (p.Thr277Ile)
n.2631C>T
c.2255C>T (p.Thr752Ile)
c.2312C>T (p.Thr771Ile)
n.2404C>T
n.2243C>T
c.1838C>T (p.Thr613Ile)
c.1568C>T (p.Thr523Ile)
n.2583C>T
 dbSNP gnomAD v2 gnomAD v4
1g.5887405G>CCA338058758NPHP4c.2366C>G (p.Thr789Ser)
c.*1267C>G (n.*1267C>G)
c.595C>G
n.2098C>G
c.2363C>G (p.Thr788Ser)
c.827C>G (p.Thr276Ser)
c.830C>G (p.Thr277Ser)
n.2631C>G
c.2255C>G (p.Thr752Ser)
c.2312C>G (p.Thr771Ser)
n.2404C>G
n.2243C>G
c.1838C>G (p.Thr613Ser)
c.1568C>G (p.Thr523Ser)
n.2583C>G
1g.5887405G=CA1151225329NPHP4c.2366C= (p.Thr789=)
c.*1267C= (n.*1267C=)
c.595C=
n.2098C=
c.2363C= (p.Thr788=)
c.827C= (p.Thr276=)
c.830C= (p.Thr277=)
n.2631C=
c.2255C= (p.Thr752=)
c.2312C= (p.Thr771=)
n.2404C=
n.2243C=
c.1838C= (p.Thr613=)
c.1568C= (p.Thr523=)
n.2583C=
1g.5887405G>TCA338058759NPHP4c.2366C>A (p.Thr789Asn)
c.*1267C>A (n.*1267C>A)
c.595C>A
n.2098C>A
c.2363C>A (p.Thr788Asn)
c.827C>A (p.Thr276Asn)
c.830C>A (p.Thr277Asn)
n.2631C>A
c.2255C>A (p.Thr752Asn)
c.2312C>A (p.Thr771Asn)
n.2404C>A
n.2243C>A
c.1838C>A (p.Thr613Asn)
c.1568C>A (p.Thr523Asn)
n.2583C>A
1g.5887406T>ACA338058760NPHP4c.2365A>T (p.Thr789Ser)
c.*1266A>T (n.*1266A>T)
c.594A>T
n.2097A>T
c.2362A>T (p.Thr788Ser)
c.826A>T (p.Thr276Ser)
c.829A>T (p.Thr277Ser)
n.2630A>T
c.2254A>T (p.Thr752Ser)
c.2311A>T (p.Thr771Ser)
n.2403A>T
n.2242A>T
c.1837A>T (p.Thr613Ser)
c.1567A>T (p.Thr523Ser)
n.2582A>T
 gnomAD v4
1g.5887406T>CCA338058761NPHP4c.2365A>G (p.Thr789Ala)
c.*1266A>G (n.*1266A>G)
c.594A>G
n.2097A>G
c.2362A>G (p.Thr788Ala)
c.826A>G (p.Thr276Ala)
c.829A>G (p.Thr277Ala)
n.2630A>G
c.2254A>G (p.Thr752Ala)
c.2311A>G (p.Thr771Ala)
n.2403A>G
n.2242A>G
c.1837A>G (p.Thr613Ala)
c.1567A>G (p.Thr523Ala)
n.2582A>G
 dbSNP
1g.5887406T>GCA338058762NPHP4c.2365A>C (p.Thr789Pro)
c.*1266A>C (n.*1266A>C)
c.594A>C
n.2097A>C
c.2362A>C (p.Thr788Pro)
c.826A>C (p.Thr276Pro)
c.829A>C (p.Thr277Pro)
n.2630A>C
c.2254A>C (p.Thr752Pro)
c.2311A>C (p.Thr771Pro)
n.2403A>C
n.2242A>C
c.1837A>C (p.Thr613Pro)
c.1567A>C (p.Thr523Pro)
n.2582A>C
1g.5887406T=CA1151225333NPHP4c.2365A= (p.Thr789=)
c.*1266A= (n.*1266A=)
c.594A=
n.2097A=
c.2362A= (p.Thr788=)
c.826A= (p.Thr276=)
c.829A= (p.Thr277=)
n.2630A=
c.2254A= (p.Thr752=)
c.2311A= (p.Thr771=)
n.2403A=
n.2242A=
c.1837A= (p.Thr613=)
c.1567A= (p.Thr523=)
n.2582A=
1g.5887407T>ACA415790556NPHP4c.2364A>T (p.Ala788=)
c.*1265A>T (n.*1265A>T)
c.593A>T
n.2096A>T
c.2361A>T (p.Ala787=)
c.825A>T (p.Ala275=)
c.828A>T (p.Ala276=)
n.2629A>T
c.2253A>T (p.Ala751=)
c.2310A>T (p.Ala770=)
n.2402A>T
n.2241A>T
c.1836A>T (p.Ala612=)
c.1566A>T (p.Ala522=)
n.2581A>T
1g.5887407T>CCA415790557NPHP4c.2364A>G (p.Ala788=)
c.*1265A>G (n.*1265A>G)
c.593A>G
n.2096A>G
c.2361A>G (p.Ala787=)
c.825A>G (p.Ala275=)
c.828A>G (p.Ala276=)
n.2629A>G
c.2253A>G (p.Ala751=)
c.2310A>G (p.Ala770=)
n.2402A>G
n.2241A>G
c.1836A>G (p.Ala612=)
c.1566A>G (p.Ala522=)
n.2581A>G
 gnomAD v4
1g.5887407T>GCA415790558NPHP4c.2364A>C (p.Ala788=)
c.*1265A>C (n.*1265A>C)
c.593A>C
n.2096A>C
c.2361A>C (p.Ala787=)
c.825A>C (p.Ala275=)
c.828A>C (p.Ala276=)
n.2629A>C
c.2253A>C (p.Ala751=)
c.2310A>C (p.Ala770=)
n.2402A>C
n.2241A>C
c.1836A>C (p.Ala612=)
c.1566A>C (p.Ala522=)
n.2581A>C

Number of alleles fetched