Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.132675263T>ACA354575985NPHP3-ACAD11,UBA5c.999T>A (p.Phe333Leu)
c.828T>A (p.Phe276Leu)
c.660T>A (p.Phe220Leu)
n.2259T>A
c.*1980+6651A>T (n.*1980+6651A>T)
c.636+6651A>T
n.3995+6651A>T
c.492T>A (p.Phe164Leu)
c.687T>A (p.Phe229Leu)
c.558T>A (p.Phe186Leu)
n.1415-342T>A
3g.132675263T>CCA435799868NPHP3-ACAD11,UBA5c.999T>C (p.Phe333=)
c.828T>C (p.Phe276=)
c.660T>C (p.Phe220=)
n.2259T>C
c.*1980+6651A>G (n.*1980+6651A>G)
c.636+6651A>G
n.3995+6651A>G
c.492T>C (p.Phe164=)
c.687T>C (p.Phe229=)
c.558T>C (p.Phe186=)
n.1415-342T>C
3g.132675263T>GCA354575986NPHP3-ACAD11,UBA5c.999T>G (p.Phe333Leu)
c.828T>G (p.Phe276Leu)
c.660T>G (p.Phe220Leu)
n.2259T>G
c.*1980+6651A>C (n.*1980+6651A>C)
c.636+6651A>C
n.3995+6651A>C
c.492T>G (p.Phe164Leu)
c.687T>G (p.Phe229Leu)
c.558T>G (p.Phe186Leu)
n.1415-342T>G
3g.132675264G>ACA354575989NPHP3-ACAD11,UBA5c.1000G>A (p.Gly334Ser)
c.829G>A (p.Gly277Ser)
c.661G>A (p.Gly221Ser)
n.2260G>A
c.*1980+6650C>T (n.*1980+6650C>T)
c.636+6650C>T
n.3995+6650C>T
c.493G>A (p.Gly165Ser)
c.688G>A (p.Gly230Ser)
c.559G>A (p.Gly187Ser)
n.1415-341G>A
 gnomAD v4
3g.132675264G>CCA354575990NPHP3-ACAD11,UBA5c.1000G>C (p.Gly334Arg)
c.829G>C (p.Gly277Arg)
c.661G>C (p.Gly221Arg)
n.2260G>C
c.*1980+6650C>G (n.*1980+6650C>G)
c.636+6650C>G
n.3995+6650C>G
c.493G>C (p.Gly165Arg)
c.688G>C (p.Gly230Arg)
c.559G>C (p.Gly187Arg)
n.1415-341G>C
3g.132675264G>TCA354575992NPHP3-ACAD11,UBA5c.1000G>T (p.Gly334Cys)
c.829G>T (p.Gly277Cys)
c.661G>T (p.Gly221Cys)
n.2260G>T
c.*1980+6650C>A (n.*1980+6650C>A)
c.636+6650C>A
n.3995+6650C>A
c.493G>T (p.Gly165Cys)
c.688G>T (p.Gly230Cys)
c.559G>T (p.Gly187Cys)
n.1415-341G>T
 gnomAD v4
3g.132675265G>ACA354575996NPHP3-ACAD11,UBA5c.1001G>A (p.Gly334Asp)
c.830G>A (p.Gly277Asp)
c.662G>A (p.Gly221Asp)
n.2261G>A
c.*1980+6649C>T (n.*1980+6649C>T)
c.636+6649C>T
n.3995+6649C>T
c.494G>A (p.Gly165Asp)
c.689G>A (p.Gly230Asp)
c.560G>A (p.Gly187Asp)
n.1415-340G>A
3g.132675265G>CCA354575995NPHP3-ACAD11,UBA5c.1001G>C (p.Gly334Ala)
c.830G>C (p.Gly277Ala)
c.662G>C (p.Gly221Ala)
n.2261G>C
c.*1980+6649C>G (n.*1980+6649C>G)
c.636+6649C>G
n.3995+6649C>G
c.494G>C (p.Gly165Ala)
c.689G>C (p.Gly230Ala)
c.560G>C (p.Gly187Ala)
n.1415-340G>C
 dbSNP gnomAD v3 gnomAD v4
3g.132675265G=CA1402639433NPHP3-ACAD11,UBA5c.1001G= (p.Gly334=)
c.830G= (p.Gly277=)
c.662G= (p.Gly221=)
n.2261G=
c.*1980+6649C= (n.*1980+6649C=)
c.636+6649C=
n.3995+6649C=
c.494G= (p.Gly165=)
c.689G= (p.Gly230=)
c.560G= (p.Gly187=)
n.1415-340G=
3g.132675265G>TCA354575994NPHP3-ACAD11,UBA5c.1001G>T (p.Gly334Val)
c.830G>T (p.Gly277Val)
c.662G>T (p.Gly221Val)
n.2261G>T
c.*1980+6649C>A (n.*1980+6649C>A)
c.636+6649C>A
n.3995+6649C>A
c.494G>T (p.Gly165Val)
c.689G>T (p.Gly230Val)
c.560G>T (p.Gly187Val)
n.1415-340G>T
 gnomAD v4
3g.132675266T>ACA435799869NPHP3-ACAD11,UBA5c.1002T>A (p.Gly334=)
c.831T>A (p.Gly277=)
c.663T>A (p.Gly221=)
n.2262T>A
c.*1980+6648A>T (n.*1980+6648A>T)
c.636+6648A>T
n.3995+6648A>T
c.495T>A (p.Gly165=)
c.690T>A (p.Gly230=)
c.561T>A (p.Gly187=)
n.1415-339T>A
3g.132675266T>CCA435799871NPHP3-ACAD11,UBA5c.1002T>C (p.Gly334=)
c.831T>C (p.Gly277=)
c.663T>C (p.Gly221=)
n.2262T>C
c.*1980+6648A>G (n.*1980+6648A>G)
c.636+6648A>G
n.3995+6648A>G
c.495T>C (p.Gly165=)
c.690T>C (p.Gly230=)
c.561T>C (p.Gly187=)
n.1415-339T>C
 gnomAD v4
3g.132675266T>GCA435799870NPHP3-ACAD11,UBA5c.1002T>G (p.Gly334=)
c.831T>G (p.Gly277=)
c.663T>G (p.Gly221=)
n.2262T>G
c.*1980+6648A>C (n.*1980+6648A>C)
c.636+6648A>C
n.3995+6648A>C
c.495T>G (p.Gly165=)
c.690T>G (p.Gly230=)
c.561T>G (p.Gly187=)
n.1415-339T>G
3g.132675267A>CCA354575998NPHP3-ACAD11,UBA5c.1003A>C (p.Thr335Pro)
c.832A>C (p.Thr278Pro)
c.664A>C (p.Thr222Pro)
n.2263A>C
c.*1980+6647T>G (n.*1980+6647T>G)
c.636+6647T>G
n.3995+6647T>G
c.496A>C (p.Thr166Pro)
c.691A>C (p.Thr231Pro)
c.562A>C (p.Thr188Pro)
n.1415-338A>C
3g.132675267A>GCA354576000NPHP3-ACAD11,UBA5c.1003A>G (p.Thr335Ala)
c.832A>G (p.Thr278Ala)
c.664A>G (p.Thr222Ala)
n.2263A>G
c.*1980+6647T>C (n.*1980+6647T>C)
c.636+6647T>C
n.3995+6647T>C
c.496A>G (p.Thr166Ala)
c.691A>G (p.Thr231Ala)
c.562A>G (p.Thr188Ala)
n.1415-338A>G
3g.132675267A>TCA354576002NPHP3-ACAD11,UBA5c.1003A>T (p.Thr335Ser)
c.832A>T (p.Thr278Ser)
c.664A>T (p.Thr222Ser)
n.2263A>T
c.*1980+6647T>A (n.*1980+6647T>A)
c.636+6647T>A
n.3995+6647T>A
c.496A>T (p.Thr166Ser)
c.691A>T (p.Thr231Ser)
c.562A>T (p.Thr188Ser)
n.1415-338A>T
 gnomAD v4 COSMIC
3g.132675268C>ACA354576004NPHP3-ACAD11,UBA5c.1004C>A (p.Thr335Asn)
c.833C>A (p.Thr278Asn)
c.665C>A (p.Thr222Asn)
n.2264C>A
c.*1980+6646G>T (n.*1980+6646G>T)
c.636+6646G>T
n.3995+6646G>T
c.497C>A (p.Thr166Asn)
c.692C>A (p.Thr231Asn)
c.563C>A (p.Thr188Asn)
n.1415-337C>A
 gnomAD v4
3g.132675268C>GCA354576006NPHP3-ACAD11,UBA5c.1004C>G (p.Thr335Ser)
c.833C>G (p.Thr278Ser)
c.665C>G (p.Thr222Ser)
n.2264C>G
c.*1980+6646G>C (n.*1980+6646G>C)
c.636+6646G>C
n.3995+6646G>C
c.497C>G (p.Thr166Ser)
c.692C>G (p.Thr231Ser)
c.563C>G (p.Thr188Ser)
n.1415-337C>G
3g.132675268C>TCA354576007NPHP3-ACAD11,UBA5c.1004C>T (p.Thr335Ile)
c.833C>T (p.Thr278Ile)
c.665C>T (p.Thr222Ile)
n.2264C>T
c.*1980+6646G>A (n.*1980+6646G>A)
c.636+6646G>A
n.3995+6646G>A
c.497C>T (p.Thr166Ile)
c.692C>T (p.Thr231Ile)
c.563C>T (p.Thr188Ile)
n.1415-337C>T
 gnomAD v4
3g.132675268_132675269delCA2667734498NPHP3-ACAD11,UBA5c.1004_1005del (p.Thr335SerfsTer2)
c.833_834del (p.Thr278SerfsTer2)
c.665_666del (p.Thr222SerfsTer2)
n.2264_2265del
c.*1980+6645_*1980+6646del (n.*1980+6645_*1980+6646del)
c.636+6645_636+6646del
n.3995+6645_3995+6646del
c.497_498del (p.Thr166SerfsTer2)
c.692_693del (p.Thr231SerfsTer2)
c.563_564del (p.Thr188SerfsTer2)
n.1415-337_1415-336del
 gnomAD v4
3g.132675269T>ACA435799872NPHP3-ACAD11,UBA5c.1005T>A (p.Thr335=)
c.834T>A (p.Thr278=)
c.666T>A (p.Thr222=)
n.2265T>A
c.*1980+6645A>T (n.*1980+6645A>T)
c.636+6645A>T
n.3995+6645A>T
c.498T>A (p.Thr166=)
c.693T>A (p.Thr231=)
c.564T>A (p.Thr188=)
n.1415-336T>A
3g.132675269T>CCA2621468NPHP3-ACAD11,UBA5c.1005T>C (p.Thr335=)
c.834T>C (p.Thr278=)
c.666T>C (p.Thr222=)
n.2265T>C
c.*1980+6645A>G (n.*1980+6645A>G)
c.636+6645A>G
n.3995+6645A>G
c.498T>C (p.Thr166=)
c.693T>C (p.Thr231=)
c.564T>C (p.Thr188=)
n.1415-336T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.132675269T>GCA435799873NPHP3-ACAD11,UBA5c.1005T>G (p.Thr335=)
c.834T>G (p.Thr278=)
c.666T>G (p.Thr222=)
n.2265T>G
c.*1980+6645A>C (n.*1980+6645A>C)
c.636+6645A>C
n.3995+6645A>C
c.498T>G (p.Thr166=)
c.693T>G (p.Thr231=)
c.564T>G (p.Thr188=)
n.1415-336T>G
3g.132675269T=CA1402639435NPHP3-ACAD11,UBA5c.1005T= (p.Thr335=)
c.834T= (p.Thr278=)
c.666T= (p.Thr222=)
n.2265T=
c.*1980+6645A= (n.*1980+6645A=)
c.636+6645A=
n.3995+6645A=
c.498T= (p.Thr166=)
c.693T= (p.Thr231=)
c.564T= (p.Thr188=)
n.1415-336T=
3g.132675270G>ACA354576011NPHP3-ACAD11,UBA5c.1006G>A (p.Val336Ile)
c.835G>A (p.Val279Ile)
c.667G>A (p.Val223Ile)
n.2266G>A
c.*1980+6644C>T (n.*1980+6644C>T)
c.636+6644C>T
n.3995+6644C>T
c.499G>A (p.Val167Ile)
c.694G>A (p.Val232Ile)
c.565G>A (p.Val189Ile)
n.1415-335G>A
 ClinVar dbSNP gnomAD v4
3g.132675270G>CCA354576012NPHP3-ACAD11,UBA5c.1006G>C (p.Val336Leu)
c.835G>C (p.Val279Leu)
c.667G>C (p.Val223Leu)
n.2266G>C
c.*1980+6644C>G (n.*1980+6644C>G)
c.636+6644C>G
n.3995+6644C>G
c.499G>C (p.Val167Leu)
c.694G>C (p.Val232Leu)
c.565G>C (p.Val189Leu)
n.1415-335G>C
3g.132675270G=CA1402639438NPHP3-ACAD11,UBA5c.1006G= (p.Val336=)
c.835G= (p.Val279=)
c.667G= (p.Val223=)
n.2266G=
c.*1980+6644C= (n.*1980+6644C=)
c.636+6644C=
n.3995+6644C=
c.499G= (p.Val167=)
c.694G= (p.Val232=)
c.565G= (p.Val189=)
n.1415-335G=
3g.132675270G>TCA354576014NPHP3-ACAD11,UBA5c.1006G>T (p.Val336Phe)
c.835G>T (p.Val279Phe)
c.667G>T (p.Val223Phe)
n.2266G>T
c.*1980+6644C>A (n.*1980+6644C>A)
c.636+6644C>A
n.3995+6644C>A
c.499G>T (p.Val167Phe)
c.694G>T (p.Val232Phe)
c.565G>T (p.Val189Phe)
n.1415-335G>T
 COSMIC
3g.132675273_132675276delCA2573130202NPHP3-ACAD11,UBA5c.1009_1012del (p.Ser337PhefsTer17)
c.838_841del (p.Ser280PhefsTer17)
c.670_673del (p.Ser224PhefsTer17)
n.2269_2272del
c.*1980+6641_*1980+6644del (n.*1980+6641_*1980+6644del)
c.636+6641_636+6644del
n.3995+6641_3995+6644del
c.502_505del (p.Ser168PhefsTer17)
c.697_700del (p.Ser233PhefsTer17)
c.568_571del (p.Ser190PhefsTer17)
n.1415-332_1415-329del
 ClinVar dbSNP
3g.132675271T>ACA354576017NPHP3-ACAD11,UBA5c.1007T>A (p.Val336Asp)
c.836T>A (p.Val279Asp)
c.668T>A (p.Val223Asp)
n.2267T>A
c.*1980+6643A>T (n.*1980+6643A>T)
c.636+6643A>T
n.3995+6643A>T
c.500T>A (p.Val167Asp)
c.695T>A (p.Val232Asp)
c.566T>A (p.Val189Asp)
n.1415-334T>A
3g.132675271T>CCA354576018NPHP3-ACAD11,UBA5c.1007T>C (p.Val336Ala)
c.836T>C (p.Val279Ala)
c.668T>C (p.Val223Ala)
n.2267T>C
c.*1980+6643A>G (n.*1980+6643A>G)
c.636+6643A>G
n.3995+6643A>G
c.500T>C (p.Val167Ala)
c.695T>C (p.Val232Ala)
c.566T>C (p.Val189Ala)
n.1415-334T>C
3g.132675271T>GCA354576020NPHP3-ACAD11,UBA5c.1007T>G (p.Val336Gly)
c.836T>G (p.Val279Gly)
c.668T>G (p.Val223Gly)
n.2267T>G
c.*1980+6643A>C (n.*1980+6643A>C)
c.636+6643A>C
n.3995+6643A>C
c.500T>G (p.Val167Gly)
c.695T>G (p.Val232Gly)
c.566T>G (p.Val189Gly)
n.1415-334T>G
3g.132675272T>ACA435799874NPHP3-ACAD11,UBA5c.1008T>A (p.Val336=)
c.837T>A (p.Val279=)
c.669T>A (p.Val223=)
n.2268T>A
c.*1980+6642A>T (n.*1980+6642A>T)
c.636+6642A>T
n.3995+6642A>T
c.501T>A (p.Val167=)
c.696T>A (p.Val232=)
c.567T>A (p.Val189=)
n.1415-333T>A
3g.132675272T>CCA435799875NPHP3-ACAD11,UBA5c.1008T>C (p.Val336=)
c.837T>C (p.Val279=)
c.669T>C (p.Val223=)
n.2268T>C
c.*1980+6642A>G (n.*1980+6642A>G)
c.636+6642A>G
n.3995+6642A>G
c.501T>C (p.Val167=)
c.696T>C (p.Val232=)
c.567T>C (p.Val189=)
n.1415-333T>C
3g.132675272T>GCA435799876NPHP3-ACAD11,UBA5c.1008T>G (p.Val336=)
c.837T>G (p.Val279=)
c.669T>G (p.Val223=)
n.2268T>G
c.*1980+6642A>C (n.*1980+6642A>C)
c.636+6642A>C
n.3995+6642A>C
c.501T>G (p.Val167=)
c.696T>G (p.Val232=)
c.567T>G (p.Val189=)
n.1415-333T>G
3g.132675273A=CA1402639442NPHP3-ACAD11,UBA5c.1009A= (p.Ser337=)
c.838A= (p.Ser280=)
c.670A= (p.Ser224=)
n.2269A=
c.*1980+6641T= (n.*1980+6641T=)
c.636+6641T=
n.3995+6641T=
c.502A= (p.Ser168=)
c.697A= (p.Ser233=)
c.568A= (p.Ser190=)
n.1415-332A=
3g.132675273A>CCA354576024NPHP3-ACAD11,UBA5c.1009A>C (p.Ser337Arg)
c.838A>C (p.Ser280Arg)
c.670A>C (p.Ser224Arg)
n.2269A>C
c.*1980+6641T>G (n.*1980+6641T>G)
c.636+6641T>G
n.3995+6641T>G
c.502A>C (p.Ser168Arg)
c.697A>C (p.Ser233Arg)
c.568A>C (p.Ser190Arg)
n.1415-332A>C
3g.132675273A>GCA354576023NPHP3-ACAD11,UBA5c.1009A>G (p.Ser337Gly)
c.838A>G (p.Ser280Gly)
c.670A>G (p.Ser224Gly)
n.2269A>G
c.*1980+6641T>C (n.*1980+6641T>C)
c.636+6641T>C
n.3995+6641T>C
c.502A>G (p.Ser168Gly)
c.697A>G (p.Ser233Gly)
c.568A>G (p.Ser190Gly)
n.1415-332A>G
3g.132675273A>TCA2621469NPHP3-ACAD11,UBA5c.1009A>T (p.Ser337Cys)
c.838A>T (p.Ser280Cys)
c.670A>T (p.Ser224Cys)
n.2269A>T
c.*1980+6641T>A (n.*1980+6641T>A)
c.636+6641T>A
n.3995+6641T>A
c.502A>T (p.Ser168Cys)
c.697A>T (p.Ser233Cys)
c.568A>T (p.Ser190Cys)
n.1415-332A>T
 dbSNP ExAC gnomAD v2
3g.132675274G>ACA354576030NPHP3-ACAD11,UBA5c.1010G>A (p.Ser337Asn)
c.839G>A (p.Ser280Asn)
c.671G>A (p.Ser224Asn)
n.2270G>A
c.*1980+6640C>T (n.*1980+6640C>T)
c.636+6640C>T
n.3995+6640C>T
c.503G>A (p.Ser168Asn)
c.698G>A (p.Ser233Asn)
c.569G>A (p.Ser190Asn)
n.1415-331G>A
3g.132675274G>CCA354576026NPHP3-ACAD11,UBA5c.1010G>C (p.Ser337Thr)
c.839G>C (p.Ser280Thr)
c.671G>C (p.Ser224Thr)
n.2270G>C
c.*1980+6640C>G (n.*1980+6640C>G)
c.636+6640C>G
n.3995+6640C>G
c.503G>C (p.Ser168Thr)
c.698G>C (p.Ser233Thr)
c.569G>C (p.Ser190Thr)
n.1415-331G>C
3g.132675274G=CA1402639446NPHP3-ACAD11,UBA5c.1010G= (p.Ser337=)
c.839G= (p.Ser280=)
c.671G= (p.Ser224=)
n.2270G=
c.*1980+6640C= (n.*1980+6640C=)
c.636+6640C=
n.3995+6640C=
c.503G= (p.Ser168=)
c.698G= (p.Ser233=)
c.569G= (p.Ser190=)
n.1415-331G=
3g.132675274G>TCA354576028NPHP3-ACAD11,UBA5c.1010G>T (p.Ser337Ile)
c.839G>T (p.Ser280Ile)
c.671G>T (p.Ser224Ile)
n.2270G>T
c.*1980+6640C>A (n.*1980+6640C>A)
c.636+6640C>A
n.3995+6640C>A
c.503G>T (p.Ser168Ile)
c.698G>T (p.Ser233Ile)
c.569G>T (p.Ser190Ile)
n.1415-331G>T
3g.132675275T>ACA354576032NPHP3-ACAD11,UBA5c.1011T>A (p.Ser337Arg)
c.840T>A (p.Ser280Arg)
c.672T>A (p.Ser224Arg)
n.2271T>A
c.*1980+6639A>T (n.*1980+6639A>T)
c.636+6639A>T
n.3995+6639A>T
c.504T>A (p.Ser168Arg)
c.699T>A (p.Ser233Arg)
c.570T>A (p.Ser190Arg)
n.1415-330T>A
3g.132675275T>CCA435799877NPHP3-ACAD11,UBA5c.1011T>C (p.Ser337=)
c.840T>C (p.Ser280=)
c.672T>C (p.Ser224=)
n.2271T>C
c.*1980+6639A>G (n.*1980+6639A>G)
c.636+6639A>G
n.3995+6639A>G
c.504T>C (p.Ser168=)
c.699T>C (p.Ser233=)
c.570T>C (p.Ser190=)
n.1415-330T>C
3g.132675275T>GCA354576034NPHP3-ACAD11,UBA5c.1011T>G (p.Ser337Arg)
c.840T>G (p.Ser280Arg)
c.672T>G (p.Ser224Arg)
n.2271T>G
c.*1980+6639A>C (n.*1980+6639A>C)
c.636+6639A>C
n.3995+6639A>C
c.504T>G (p.Ser168Arg)
c.699T>G (p.Ser233Arg)
c.570T>G (p.Ser190Arg)
n.1415-330T>G
3g.132675279dupCA658657337NPHP3-ACAD11,UBA5c.1015dup (p.Tyr339LeufsTer23)
c.844dup (p.Tyr282LeufsTer23)
c.676dup (p.Tyr226LeufsTer23)
n.2275dup
c.*1980+6639dup (n.*1980+6639dup)
c.636+6639dup
n.3995+6639dup
c.508dup (p.Tyr170LeufsTer23)
c.703dup (p.Tyr235LeufsTer23)
c.574dup (p.Tyr192LeufsTer23)
n.1415-326dup
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.132675276T>ACA354576036NPHP3-ACAD11,UBA5c.1012T>A (p.Phe338Ile)
c.841T>A (p.Phe281Ile)
c.673T>A (p.Phe225Ile)
n.2272T>A
c.*1980+6638A>T (n.*1980+6638A>T)
c.636+6638A>T
n.3995+6638A>T
c.505T>A (p.Phe169Ile)
c.700T>A (p.Phe234Ile)
c.571T>A (p.Phe191Ile)
n.1415-329T>A
3g.132675276T>CCA354576037NPHP3-ACAD11,UBA5c.1012T>C (p.Phe338Leu)
c.841T>C (p.Phe281Leu)
c.673T>C (p.Phe225Leu)
n.2272T>C
c.*1980+6638A>G (n.*1980+6638A>G)
c.636+6638A>G
n.3995+6638A>G
c.505T>C (p.Phe169Leu)
c.700T>C (p.Phe234Leu)
c.571T>C (p.Phe191Leu)
n.1415-329T>C
3g.132675276T>GCA354576038NPHP3-ACAD11,UBA5c.1012T>G (p.Phe338Val)
c.841T>G (p.Phe281Val)
c.673T>G (p.Phe225Val)
n.2272T>G
c.*1980+6638A>C (n.*1980+6638A>C)
c.636+6638A>C
n.3995+6638A>C
c.505T>G (p.Phe169Val)
c.700T>G (p.Phe234Val)
c.571T>G (p.Phe191Val)
n.1415-329T>G
3g.132675277T>ACA354576039NPHP3-ACAD11,UBA5c.1013T>A (p.Phe338Tyr)
c.842T>A (p.Phe281Tyr)
c.674T>A (p.Phe225Tyr)
n.2273T>A
c.*1980+6637A>T (n.*1980+6637A>T)
c.636+6637A>T
n.3995+6637A>T
c.506T>A (p.Phe169Tyr)
c.701T>A (p.Phe234Tyr)
c.572T>A (p.Phe191Tyr)
n.1415-328T>A
3g.132675277T>CCA354576041NPHP3-ACAD11,UBA5c.1013T>C (p.Phe338Ser)
c.842T>C (p.Phe281Ser)
c.674T>C (p.Phe225Ser)
n.2273T>C
c.*1980+6637A>G (n.*1980+6637A>G)
c.636+6637A>G
n.3995+6637A>G
c.506T>C (p.Phe169Ser)
c.701T>C (p.Phe234Ser)
c.572T>C (p.Phe191Ser)
n.1415-328T>C
3g.132675277T>GCA354576043NPHP3-ACAD11,UBA5c.1013T>G (p.Phe338Cys)
c.842T>G (p.Phe281Cys)
c.674T>G (p.Phe225Cys)
n.2273T>G
c.*1980+6637A>C (n.*1980+6637A>C)
c.636+6637A>C
n.3995+6637A>C
c.506T>G (p.Phe169Cys)
c.701T>G (p.Phe234Cys)
c.572T>G (p.Phe191Cys)
n.1415-328T>G
3g.132675278T>ACA354576044NPHP3-ACAD11,UBA5c.1014T>A (p.Phe338Leu)
c.843T>A (p.Phe281Leu)
c.675T>A (p.Phe225Leu)
n.2274T>A
c.*1980+6636A>T (n.*1980+6636A>T)
c.636+6636A>T
n.3995+6636A>T
c.507T>A (p.Phe169Leu)
c.702T>A (p.Phe234Leu)
c.573T>A (p.Phe191Leu)
n.1415-327T>A
3g.132675278T>CCA435799879NPHP3-ACAD11,UBA5c.1014T>C (p.Phe338=)
c.843T>C (p.Phe281=)
c.675T>C (p.Phe225=)
n.2274T>C
c.*1980+6636A>G (n.*1980+6636A>G)
c.636+6636A>G
n.3995+6636A>G
c.507T>C (p.Phe169=)
c.702T>C (p.Phe234=)
c.573T>C (p.Phe191=)
n.1415-327T>C
3g.132675278T>GCA354576046NPHP3-ACAD11,UBA5c.1014T>G (p.Phe338Leu)
c.843T>G (p.Phe281Leu)
c.675T>G (p.Phe225Leu)
n.2274T>G
c.*1980+6636A>C (n.*1980+6636A>C)
c.636+6636A>C
n.3995+6636A>C
c.507T>G (p.Phe169Leu)
c.702T>G (p.Phe234Leu)
c.573T>G (p.Phe191Leu)
n.1415-327T>G
3g.132675279T>ACA354576050NPHP3-ACAD11,UBA5c.1015T>A (p.Tyr339Asn)
c.844T>A (p.Tyr282Asn)
c.676T>A (p.Tyr226Asn)
n.2275T>A
c.*1980+6635A>T (n.*1980+6635A>T)
c.636+6635A>T
n.3995+6635A>T
c.508T>A (p.Tyr170Asn)
c.703T>A (p.Tyr235Asn)
c.574T>A (p.Tyr192Asn)
n.1415-326T>A
3g.132675279T>CCA354576052NPHP3-ACAD11,UBA5c.1015T>C (p.Tyr339His)
c.844T>C (p.Tyr282His)
c.676T>C (p.Tyr226His)
n.2275T>C
c.*1980+6635A>G (n.*1980+6635A>G)
c.636+6635A>G
n.3995+6635A>G
c.508T>C (p.Tyr170His)
c.703T>C (p.Tyr235His)
c.574T>C (p.Tyr192His)
n.1415-326T>C
3g.132675279T>GCA354576048NPHP3-ACAD11,UBA5c.1015T>G (p.Tyr339Asp)
c.844T>G (p.Tyr282Asp)
c.676T>G (p.Tyr226Asp)
n.2275T>G
c.*1980+6635A>C (n.*1980+6635A>C)
c.636+6635A>C
n.3995+6635A>C
c.508T>G (p.Tyr170Asp)
c.703T>G (p.Tyr235Asp)
c.574T>G (p.Tyr192Asp)
n.1415-326T>G
3g.132675280A>CCA354576054NPHP3-ACAD11,UBA5c.1016A>C (p.Tyr339Ser)
c.845A>C (p.Tyr282Ser)
c.677A>C (p.Tyr226Ser)
n.2276A>C
c.*1980+6634T>G (n.*1980+6634T>G)
c.636+6634T>G
n.3995+6634T>G
c.509A>C (p.Tyr170Ser)
c.704A>C (p.Tyr235Ser)
c.575A>C (p.Tyr192Ser)
n.1415-325A>C
3g.132675280A>GCA354576056NPHP3-ACAD11,UBA5c.1016A>G (p.Tyr339Cys)
c.845A>G (p.Tyr282Cys)
c.677A>G (p.Tyr226Cys)
n.2276A>G
c.*1980+6634T>C (n.*1980+6634T>C)
c.636+6634T>C
n.3995+6634T>C
c.509A>G (p.Tyr170Cys)
c.704A>G (p.Tyr235Cys)
c.575A>G (p.Tyr192Cys)
n.1415-325A>G
3g.132675280A>TCA354576058NPHP3-ACAD11,UBA5c.1016A>T (p.Tyr339Phe)
c.845A>T (p.Tyr282Phe)
c.677A>T (p.Tyr226Phe)
n.2276A>T
c.*1980+6634T>A (n.*1980+6634T>A)
c.636+6634T>A
n.3995+6634T>A
c.509A>T (p.Tyr170Phe)
c.704A>T (p.Tyr235Phe)
c.575A>T (p.Tyr192Phe)
n.1415-325A>T
3g.132675280dupCA2667734499NPHP3-ACAD11,UBA5c.1016dup (p.Tyr339Ter)
c.845dup (p.Tyr282Ter)
c.677dup (p.Tyr226Ter)
n.2276dup
c.*1980+6634dup (n.*1980+6634dup)
c.636+6634dup
n.3995+6634dup
c.509dup (p.Tyr170Ter)
c.704dup (p.Tyr235Ter)
c.575dup (p.Tyr192Ter)
n.1415-325dup
 gnomAD v4
3g.132675281C>ACA354576060NPHP3-ACAD11,UBA5c.1017C>A (p.Tyr339Ter)
c.846C>A (p.Tyr282Ter)
c.678C>A (p.Tyr226Ter)
n.2277C>A
c.*1980+6633G>T (n.*1980+6633G>T)
c.636+6633G>T
n.3995+6633G>T
c.510C>A (p.Tyr170Ter)
c.705C>A (p.Tyr235Ter)
c.576C>A (p.Tyr192Ter)
n.1415-324C>A
3g.132675281C>GCA354576061NPHP3-ACAD11,UBA5c.1017C>G (p.Tyr339Ter)
c.846C>G (p.Tyr282Ter)
c.678C>G (p.Tyr226Ter)
n.2277C>G
c.*1980+6633G>C (n.*1980+6633G>C)
c.636+6633G>C
n.3995+6633G>C
c.510C>G (p.Tyr170Ter)
c.705C>G (p.Tyr235Ter)
c.576C>G (p.Tyr192Ter)
n.1415-324C>G
3g.132675281C>TCA435799882NPHP3-ACAD11,UBA5c.1017C>T (p.Tyr339=)
c.846C>T (p.Tyr282=)
c.678C>T (p.Tyr226=)
n.2277C>T
c.*1980+6633G>A (n.*1980+6633G>A)
c.636+6633G>A
n.3995+6633G>A
c.510C>T (p.Tyr170=)
c.705C>T (p.Tyr235=)
c.576C>T (p.Tyr192=)
n.1415-324C>T
3g.132675282C>ACA354576067NPHP3-ACAD11,UBA5c.1018C>A (p.Leu340Ile)
c.847C>A (p.Leu283Ile)
c.679C>A (p.Leu227Ile)
n.2278C>A
c.*1980+6632G>T (n.*1980+6632G>T)
c.636+6632G>T
n.3995+6632G>T
c.511C>A (p.Leu171Ile)
c.706C>A (p.Leu236Ile)
c.577C>A (p.Leu193Ile)
n.1415-323C>A
3g.132675282C>GCA354576064NPHP3-ACAD11,UBA5c.1018C>G (p.Leu340Val)
c.847C>G (p.Leu283Val)
c.679C>G (p.Leu227Val)
n.2278C>G
c.*1980+6632G>C (n.*1980+6632G>C)
c.636+6632G>C
n.3995+6632G>C
c.511C>G (p.Leu171Val)
c.706C>G (p.Leu236Val)
c.577C>G (p.Leu193Val)
n.1415-323C>G
3g.132675282C>TCA354576065NPHP3-ACAD11,UBA5c.1018C>T (p.Leu340Phe)
c.847C>T (p.Leu283Phe)
c.679C>T (p.Leu227Phe)
n.2278C>T
c.*1980+6632G>A (n.*1980+6632G>A)
c.636+6632G>A
n.3995+6632G>A
c.511C>T (p.Leu171Phe)
c.706C>T (p.Leu236Phe)
c.577C>T (p.Leu193Phe)
n.1415-323C>T
3g.132675283T>ACA354576070NPHP3-ACAD11,UBA5c.1019T>A (p.Leu340His)
c.848T>A (p.Leu283His)
c.680T>A (p.Leu227His)
n.2279T>A
c.*1980+6631A>T (n.*1980+6631A>T)
c.636+6631A>T
n.3995+6631A>T
c.512T>A (p.Leu171His)
c.707T>A (p.Leu236His)
c.578T>A (p.Leu193His)
n.1415-322T>A
3g.132675283T>CCA354576071NPHP3-ACAD11,UBA5c.1019T>C (p.Leu340Pro)
c.848T>C (p.Leu283Pro)
c.680T>C (p.Leu227Pro)
n.2279T>C
c.*1980+6631A>G (n.*1980+6631A>G)
c.636+6631A>G
n.3995+6631A>G
c.512T>C (p.Leu171Pro)
c.707T>C (p.Leu236Pro)
c.578T>C (p.Leu193Pro)
n.1415-322T>C
3g.132675283T>GCA354576073NPHP3-ACAD11,UBA5c.1019T>G (p.Leu340Arg)
c.848T>G (p.Leu283Arg)
c.680T>G (p.Leu227Arg)
n.2279T>G
c.*1980+6631A>C (n.*1980+6631A>C)
c.636+6631A>C
n.3995+6631A>C
c.512T>G (p.Leu171Arg)
c.707T>G (p.Leu236Arg)
c.578T>G (p.Leu193Arg)
n.1415-322T>G
3g.132675284T>ACA435799884NPHP3-ACAD11,UBA5c.1020T>A (p.Leu340=)
c.849T>A (p.Leu283=)
c.681T>A (p.Leu227=)
n.2280T>A
c.*1980+6630A>T (n.*1980+6630A>T)
c.636+6630A>T
n.3995+6630A>T
c.513T>A (p.Leu171=)
c.708T>A (p.Leu236=)
c.579T>A (p.Leu193=)
n.1415-321T>A
3g.132675284T>CCA435799885NPHP3-ACAD11,UBA5c.1020T>C (p.Leu340=)
c.849T>C (p.Leu283=)
c.681T>C (p.Leu227=)
n.2280T>C
c.*1980+6630A>G (n.*1980+6630A>G)
c.636+6630A>G
n.3995+6630A>G
c.513T>C (p.Leu171=)
c.708T>C (p.Leu236=)
c.579T>C (p.Leu193=)
n.1415-321T>C
3g.132675284T>GCA435799886NPHP3-ACAD11,UBA5c.1020T>G (p.Leu340=)
c.849T>G (p.Leu283=)
c.681T>G (p.Leu227=)
n.2280T>G
c.*1980+6630A>C (n.*1980+6630A>C)
c.636+6630A>C
n.3995+6630A>C
c.513T>G (p.Leu171=)
c.708T>G (p.Leu236=)
c.579T>G (p.Leu193=)
n.1415-321T>G
3g.132675285G>ACA354576075NPHP3-ACAD11,UBA5c.1021G>A (p.Gly341Arg)
c.850G>A (p.Gly284Arg)
c.682G>A (p.Gly228Arg)
n.2281G>A
c.*1980+6629C>T (n.*1980+6629C>T)
c.636+6629C>T
n.3995+6629C>T
c.514G>A (p.Gly172Arg)
c.709G>A (p.Gly237Arg)
c.580G>A (p.Gly194Arg)
n.1415-320G>A
 gnomAD v4
3g.132675285G>CCA354576077NPHP3-ACAD11,UBA5c.1021G>C (p.Gly341Arg)
c.850G>C (p.Gly284Arg)
c.682G>C (p.Gly228Arg)
n.2281G>C
c.*1980+6629C>G (n.*1980+6629C>G)
c.636+6629C>G
n.3995+6629C>G
c.514G>C (p.Gly172Arg)
c.709G>C (p.Gly237Arg)
c.580G>C (p.Gly194Arg)
n.1415-320G>C
3g.132675285G>TCA354576079NPHP3-ACAD11,UBA5c.1021G>T (p.Gly341Ter)
c.850G>T (p.Gly284Ter)
c.682G>T (p.Gly228Ter)
n.2281G>T
c.*1980+6629C>A (n.*1980+6629C>A)
c.636+6629C>A
n.3995+6629C>A
c.514G>T (p.Gly172Ter)
c.709G>T (p.Gly237Ter)
c.580G>T (p.Gly194Ter)
n.1415-320G>T
3g.132675286G>ACA354576082NPHP3-ACAD11,UBA5c.1022G>A (p.Gly341Glu)
c.851G>A (p.Gly284Glu)
c.683G>A (p.Gly228Glu)
n.2282G>A
c.*1980+6628C>T (n.*1980+6628C>T)
c.636+6628C>T
n.3995+6628C>T
c.515G>A (p.Gly172Glu)
c.710G>A (p.Gly237Glu)
c.581G>A (p.Gly194Glu)
n.1415-319G>A
3g.132675286G>CCA354576085NPHP3-ACAD11,UBA5c.1022G>C (p.Gly341Ala)
c.851G>C (p.Gly284Ala)
c.683G>C (p.Gly228Ala)
n.2282G>C
c.*1980+6628C>G (n.*1980+6628C>G)
c.636+6628C>G
n.3995+6628C>G
c.515G>C (p.Gly172Ala)
c.710G>C (p.Gly237Ala)
c.581G>C (p.Gly194Ala)
n.1415-319G>C
3g.132675286G>TCA354576081NPHP3-ACAD11,UBA5c.1022G>T (p.Gly341Val)
c.851G>T (p.Gly284Val)
c.683G>T (p.Gly228Val)
n.2282G>T
c.*1980+6628C>A (n.*1980+6628C>A)
c.636+6628C>A
n.3995+6628C>A
c.515G>T (p.Gly172Val)
c.710G>T (p.Gly237Val)
c.581G>T (p.Gly194Val)
n.1415-319G>T
3g.132675287A=CA1402639451NPHP3-ACAD11,UBA5c.1023A= (p.Gly341=)
c.852A= (p.Gly284=)
c.684A= (p.Gly228=)
n.2283A=
c.*1980+6627T= (n.*1980+6627T=)
c.636+6627T=
n.3995+6627T=
c.516A= (p.Gly172=)
c.711A= (p.Gly237=)
c.582A= (p.Gly194=)
n.1415-318A=
3g.132675287A>CCA435799889NPHP3-ACAD11,UBA5c.1023A>C (p.Gly341=)
c.852A>C (p.Gly284=)
c.684A>C (p.Gly228=)
n.2283A>C
c.*1980+6627T>G (n.*1980+6627T>G)
c.636+6627T>G
n.3995+6627T>G
c.516A>C (p.Gly172=)
c.711A>C (p.Gly237=)
c.582A>C (p.Gly194=)
n.1415-318A>C
3g.132675287A>GCA435799888NPHP3-ACAD11,UBA5c.1023A>G (p.Gly341=)
c.852A>G (p.Gly284=)
c.684A>G (p.Gly228=)
n.2283A>G
c.*1980+6627T>C (n.*1980+6627T>C)
c.636+6627T>C
n.3995+6627T>C
c.516A>G (p.Gly172=)
c.711A>G (p.Gly237=)
c.582A>G (p.Gly194=)
n.1415-318A>G
 dbSNP
3g.132675287A>TCA435799887NPHP3-ACAD11,UBA5c.1023A>T (p.Gly341=)
c.852A>T (p.Gly284=)
c.684A>T (p.Gly228=)
n.2283A>T
c.*1980+6627T>A (n.*1980+6627T>A)
c.636+6627T>A
n.3995+6627T>A
c.516A>T (p.Gly172=)
c.711A>T (p.Gly237=)
c.582A>T (p.Gly194=)
n.1415-318A>T
3g.132675288T>ACA354576087NPHP3-ACAD11,UBA5c.1024T>A (p.Tyr342Asn)
c.853T>A (p.Tyr285Asn)
c.685T>A (p.Tyr229Asn)
n.2284T>A
c.*1980+6626A>T (n.*1980+6626A>T)
c.636+6626A>T
n.3995+6626A>T
c.517T>A (p.Tyr173Asn)
c.712T>A (p.Tyr238Asn)
c.583T>A (p.Tyr195Asn)
n.1415-317T>A
3g.132675288T>CCA354576090NPHP3-ACAD11,UBA5c.1024T>C (p.Tyr342His)
c.853T>C (p.Tyr285His)
c.685T>C (p.Tyr229His)
n.2284T>C
c.*1980+6626A>G (n.*1980+6626A>G)
c.636+6626A>G
n.3995+6626A>G
c.517T>C (p.Tyr173His)
c.712T>C (p.Tyr238His)
c.583T>C (p.Tyr195His)
n.1415-317T>C
3g.132675288T>GCA354576088NPHP3-ACAD11,UBA5c.1024T>G (p.Tyr342Asp)
c.853T>G (p.Tyr285Asp)
c.685T>G (p.Tyr229Asp)
n.2284T>G
c.*1980+6626A>C (n.*1980+6626A>C)
c.636+6626A>C
n.3995+6626A>C
c.517T>G (p.Tyr173Asp)
c.712T>G (p.Tyr238Asp)
c.583T>G (p.Tyr195Asp)
n.1415-317T>G
3g.132675289A=CA1402639454NPHP3-ACAD11,UBA5c.1025A= (p.Tyr342=)
c.854A= (p.Tyr285=)
c.686A= (p.Tyr229=)
n.2285A=
c.*1980+6625T= (n.*1980+6625T=)
c.636+6625T=
n.3995+6625T=
c.518A= (p.Tyr173=)
c.713A= (p.Tyr238=)
c.584A= (p.Tyr195=)
n.1415-316A=
3g.132675289A>CCA354576092NPHP3-ACAD11,UBA5c.1025A>C (p.Tyr342Ser)
c.854A>C (p.Tyr285Ser)
c.686A>C (p.Tyr229Ser)
n.2285A>C
c.*1980+6625T>G (n.*1980+6625T>G)
c.636+6625T>G
n.3995+6625T>G
c.518A>C (p.Tyr173Ser)
c.713A>C (p.Tyr238Ser)
c.584A>C (p.Tyr195Ser)
n.1415-316A>C
3g.132675289A>GCA83612072NPHP3-ACAD11,UBA5c.1025A>G (p.Tyr342Cys)
c.854A>G (p.Tyr285Cys)
c.686A>G (p.Tyr229Cys)
n.2285A>G
c.*1980+6625T>C (n.*1980+6625T>C)
c.636+6625T>C
n.3995+6625T>C
c.518A>G (p.Tyr173Cys)
c.713A>G (p.Tyr238Cys)
c.584A>G (p.Tyr195Cys)
n.1415-316A>G
 dbSNP
3g.132675289A>TCA354576095NPHP3-ACAD11,UBA5c.1025A>T (p.Tyr342Phe)
c.854A>T (p.Tyr285Phe)
c.686A>T (p.Tyr229Phe)
n.2285A>T
c.*1980+6625T>A (n.*1980+6625T>A)
c.636+6625T>A
n.3995+6625T>A
c.518A>T (p.Tyr173Phe)
c.713A>T (p.Tyr238Phe)
c.584A>T (p.Tyr195Phe)
n.1415-316A>T
3g.132675290C>ACA10588804NPHP3-ACAD11,UBA5c.1026C>A (p.Tyr342Ter)
c.855C>A (p.Tyr285Ter)
c.687C>A (p.Tyr229Ter)
n.2286C>A
c.*1980+6624G>T (n.*1980+6624G>T)
c.636+6624G>T
n.3995+6624G>T
c.519C>A (p.Tyr173Ter)
c.714C>A (p.Tyr238Ter)
c.585C>A (p.Tyr195Ter)
n.1415-315C>A
 ClinVar dbSNP gnomAD v4
3g.132675290C=CA1402639464NPHP3-ACAD11,UBA5c.1026C= (p.Tyr342=)
c.855C= (p.Tyr285=)
c.687C= (p.Tyr229=)
n.2286C=
c.*1980+6624G= (n.*1980+6624G=)
c.636+6624G=
n.3995+6624G=
c.519C= (p.Tyr173=)
c.714C= (p.Tyr238=)
c.585C= (p.Tyr195=)
n.1415-315C=
3g.132675290C>GCA354576098NPHP3-ACAD11,UBA5c.1026C>G (p.Tyr342Ter)
c.855C>G (p.Tyr285Ter)
c.687C>G (p.Tyr229Ter)
n.2286C>G
c.*1980+6624G>C (n.*1980+6624G>C)
c.636+6624G>C
n.3995+6624G>C
c.519C>G (p.Tyr173Ter)
c.714C>G (p.Tyr238Ter)
c.585C>G (p.Tyr195Ter)
n.1415-315C>G
3g.132675290C>TCA2621470NPHP3-ACAD11,UBA5c.1026C>T (p.Tyr342=)
c.855C>T (p.Tyr285=)
c.687C>T (p.Tyr229=)
n.2286C>T
c.*1980+6624G>A (n.*1980+6624G>A)
c.636+6624G>A
n.3995+6624G>A
c.519C>T (p.Tyr173=)
c.714C>T (p.Tyr238=)
c.585C>T (p.Tyr195=)
n.1415-315C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.132675291A>CCA354576102NPHP3-ACAD11,UBA5c.1027A>C (p.Asn343His)
c.856A>C (p.Asn286His)
c.688A>C (p.Asn230His)
n.2287A>C
c.*1980+6623T>G (n.*1980+6623T>G)
c.636+6623T>G
n.3995+6623T>G
c.520A>C (p.Asn174His)
c.715A>C (p.Asn239His)
c.586A>C (p.Asn196His)
n.1415-314A>C
3g.132675291A>GCA354576104NPHP3-ACAD11,UBA5c.1027A>G (p.Asn343Asp)
c.856A>G (p.Asn286Asp)
c.688A>G (p.Asn230Asp)
n.2287A>G
c.*1980+6623T>C (n.*1980+6623T>C)
c.636+6623T>C
n.3995+6623T>C
c.520A>G (p.Asn174Asp)
c.715A>G (p.Asn239Asp)
c.586A>G (p.Asn196Asp)
n.1415-314A>G
3g.132675291A>TCA354576105NPHP3-ACAD11,UBA5c.1027A>T (p.Asn343Tyr)
c.856A>T (p.Asn286Tyr)
c.688A>T (p.Asn230Tyr)
n.2287A>T
c.*1980+6623T>A (n.*1980+6623T>A)
c.636+6623T>A
n.3995+6623T>A
c.520A>T (p.Asn174Tyr)
c.715A>T (p.Asn239Tyr)
c.586A>T (p.Asn196Tyr)
n.1415-314A>T
3g.132675292A=CA1402639473NPHP3-ACAD11,UBA5c.1028A= (p.Asn343=)
c.857A= (p.Asn286=)
c.689A= (p.Asn230=)
n.2288A=
c.*1980+6622T= (n.*1980+6622T=)
c.636+6622T=
n.3995+6622T=
c.521A= (p.Asn174=)
c.716A= (p.Asn239=)
c.587A= (p.Asn196=)
n.1415-313A=
3g.132675292A>CCA354576107NPHP3-ACAD11,UBA5c.1028A>C (p.Asn343Thr)
c.857A>C (p.Asn286Thr)
c.689A>C (p.Asn230Thr)
n.2288A>C
c.*1980+6622T>G (n.*1980+6622T>G)
c.636+6622T>G
n.3995+6622T>G
c.521A>C (p.Asn174Thr)
c.716A>C (p.Asn239Thr)
c.587A>C (p.Asn196Thr)
n.1415-313A>C
3g.132675292A>GCA2621471NPHP3-ACAD11,UBA5c.1028A>G (p.Asn343Ser)
c.857A>G (p.Asn286Ser)
c.689A>G (p.Asn230Ser)
n.2288A>G
c.*1980+6622T>C (n.*1980+6622T>C)
c.636+6622T>C
n.3995+6622T>C
c.521A>G (p.Asn174Ser)
c.716A>G (p.Asn239Ser)
c.587A>G (p.Asn196Ser)
n.1415-313A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.132675292A>TCA354576110NPHP3-ACAD11,UBA5c.1028A>T (p.Asn343Ile)
c.857A>T (p.Asn286Ile)
c.689A>T (p.Asn230Ile)
n.2288A>T
c.*1980+6622T>A (n.*1980+6622T>A)
c.636+6622T>A
n.3995+6622T>A
c.521A>T (p.Asn174Ile)
c.716A>T (p.Asn239Ile)
c.587A>T (p.Asn196Ile)
n.1415-313A>T
3g.132675293T>ACA354576114NPHP3-ACAD11,UBA5c.1029T>A (p.Asn343Lys)
c.858T>A (p.Asn286Lys)
c.690T>A (p.Asn230Lys)
n.2289T>A
c.*1980+6621A>T (n.*1980+6621A>T)
c.636+6621A>T
n.3995+6621A>T
c.522T>A (p.Asn174Lys)
c.717T>A (p.Asn239Lys)
c.588T>A (p.Asn196Lys)
n.1415-312T>A
3g.132675293T>CCA435799890NPHP3-ACAD11,UBA5c.1029T>C (p.Asn343=)
c.858T>C (p.Asn286=)
c.690T>C (p.Asn230=)
n.2289T>C
c.*1980+6621A>G (n.*1980+6621A>G)
c.636+6621A>G
n.3995+6621A>G
c.522T>C (p.Asn174=)
c.717T>C (p.Asn239=)
c.588T>C (p.Asn196=)
n.1415-312T>C
3g.132675293T>GCA354576112NPHP3-ACAD11,UBA5c.1029T>G (p.Asn343Lys)
c.858T>G (p.Asn286Lys)
c.690T>G (p.Asn230Lys)
n.2289T>G
c.*1980+6621A>C (n.*1980+6621A>C)
c.636+6621A>C
n.3995+6621A>C
c.522T>G (p.Asn174Lys)
c.717T>G (p.Asn239Lys)
c.588T>G (p.Asn196Lys)
n.1415-312T>G
3g.132675294G>ACA354576115NPHP3-ACAD11,UBA5c.1030G>A (p.Ala344Thr)
c.859G>A (p.Ala287Thr)
c.691G>A (p.Ala231Thr)
n.2290G>A
c.*1980+6620C>T (n.*1980+6620C>T)
c.636+6620C>T
n.3995+6620C>T
c.523G>A (p.Ala175Thr)
c.718G>A (p.Ala240Thr)
c.589G>A (p.Ala197Thr)
n.1415-311G>A
3g.132675294G>CCA354576116NPHP3-ACAD11,UBA5c.1030G>C (p.Ala344Pro)
c.859G>C (p.Ala287Pro)
c.691G>C (p.Ala231Pro)
n.2290G>C
c.*1980+6620C>G (n.*1980+6620C>G)
c.636+6620C>G
n.3995+6620C>G
c.523G>C (p.Ala175Pro)
c.718G>C (p.Ala240Pro)
c.589G>C (p.Ala197Pro)
n.1415-311G>C
3g.132675294G=CA1402639478NPHP3-ACAD11,UBA5c.1030G= (p.Ala344=)
c.859G= (p.Ala287=)
c.691G= (p.Ala231=)
n.2290G=
c.*1980+6620C= (n.*1980+6620C=)
c.636+6620C=
n.3995+6620C=
c.523G= (p.Ala175=)
c.718G= (p.Ala240=)
c.589G= (p.Ala197=)
n.1415-311G=
3g.132675294G>TCA354576117NPHP3-ACAD11,UBA5c.1030G>T (p.Ala344Ser)
c.859G>T (p.Ala287Ser)
c.691G>T (p.Ala231Ser)
n.2290G>T
c.*1980+6620C>A (n.*1980+6620C>A)
c.636+6620C>A
n.3995+6620C>A
c.523G>T (p.Ala175Ser)
c.718G>T (p.Ala240Ser)
c.589G>T (p.Ala197Ser)
n.1415-311G>T
 dbSNP
3g.132675295C>ACA354576119NPHP3-ACAD11,UBA5c.1031C>A (p.Ala344Glu)
c.860C>A (p.Ala287Glu)
c.692C>A (p.Ala231Glu)
n.2291C>A
c.*1980+6619G>T (n.*1980+6619G>T)
c.636+6619G>T
n.3995+6619G>T
c.524C>A (p.Ala175Glu)
c.719C>A (p.Ala240Glu)
c.590C>A (p.Ala197Glu)
n.1415-310C>A
3g.132675295C=CA1402639486NPHP3-ACAD11,UBA5c.1031C= (p.Ala344=)
c.860C= (p.Ala287=)
c.692C= (p.Ala231=)
n.2291C=
c.*1980+6619G= (n.*1980+6619G=)
c.636+6619G=
n.3995+6619G=
c.524C= (p.Ala175=)
c.719C= (p.Ala240=)
c.590C= (p.Ala197=)
n.1415-310C=
3g.132675295C>GCA2621472NPHP3-ACAD11,UBA5c.1031C>G (p.Ala344Gly)
c.860C>G (p.Ala287Gly)
c.692C>G (p.Ala231Gly)
n.2291C>G
c.*1980+6619G>C (n.*1980+6619G>C)
c.636+6619G>C
n.3995+6619G>C
c.524C>G (p.Ala175Gly)
c.719C>G (p.Ala240Gly)
c.590C>G (p.Ala197Gly)
n.1415-310C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.132675295C>TCA354576122NPHP3-ACAD11,UBA5c.1031C>T (p.Ala344Val)
c.860C>T (p.Ala287Val)
c.692C>T (p.Ala231Val)
n.2291C>T
c.*1980+6619G>A (n.*1980+6619G>A)
c.636+6619G>A
n.3995+6619G>A
c.524C>T (p.Ala175Val)
c.719C>T (p.Ala240Val)
c.590C>T (p.Ala197Val)
n.1415-310C>T
3g.132675296A>CCA435799891NPHP3-ACAD11,UBA5c.1032A>C (p.Ala344=)
c.861A>C (p.Ala287=)
c.693A>C (p.Ala231=)
n.2292A>C
c.*1980+6618T>G (n.*1980+6618T>G)
c.636+6618T>G
n.3995+6618T>G
c.525A>C (p.Ala175=)
c.720A>C (p.Ala240=)
c.591A>C (p.Ala197=)
n.1415-309A>C
3g.132675296A>GCA435799892NPHP3-ACAD11,UBA5c.1032A>G (p.Ala344=)
c.861A>G (p.Ala287=)
c.693A>G (p.Ala231=)
n.2292A>G
c.*1980+6618T>C (n.*1980+6618T>C)
c.636+6618T>C
n.3995+6618T>C
c.525A>G (p.Ala175=)
c.720A>G (p.Ala240=)
c.591A>G (p.Ala197=)
n.1415-309A>G
3g.132675296A>TCA435799893NPHP3-ACAD11,UBA5c.1032A>T (p.Ala344=)
c.861A>T (p.Ala287=)
c.693A>T (p.Ala231=)
n.2292A>T
c.*1980+6618T>A (n.*1980+6618T>A)
c.636+6618T>A
n.3995+6618T>A
c.525A>T (p.Ala175=)
c.720A>T (p.Ala240=)
c.591A>T (p.Ala197=)
n.1415-309A>T
3g.132675297A=CA1402639492NPHP3-ACAD11,UBA5c.1033A= (p.Met345=)
c.862A= (p.Met288=)
c.694A= (p.Met232=)
n.2293A=
c.*1980+6617T= (n.*1980+6617T=)
c.636+6617T=
n.3995+6617T=
c.526A= (p.Met176=)
c.721A= (p.Met241=)
c.592A= (p.Met198=)
n.1415-308A=
3g.132675297A>CCA354576124NPHP3-ACAD11,UBA5c.1033A>C (p.Met345Leu)
c.862A>C (p.Met288Leu)
c.694A>C (p.Met232Leu)
n.2293A>C
c.*1980+6617T>G (n.*1980+6617T>G)
c.636+6617T>G
n.3995+6617T>G
c.526A>C (p.Met176Leu)
c.721A>C (p.Met241Leu)
c.592A>C (p.Met198Leu)
n.1415-308A>C
3g.132675297A>GCA2621473NPHP3-ACAD11,UBA5c.1033A>G (p.Met345Val)
c.862A>G (p.Met288Val)
c.694A>G (p.Met232Val)
n.2293A>G
c.*1980+6617T>C (n.*1980+6617T>C)
c.636+6617T>C
n.3995+6617T>C
c.526A>G (p.Met176Val)
c.721A>G (p.Met241Val)
c.592A>G (p.Met198Val)
n.1415-308A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.132675297A>TCA354576127NPHP3-ACAD11,UBA5c.1033A>T (p.Met345Leu)
c.862A>T (p.Met288Leu)
c.694A>T (p.Met232Leu)
n.2293A>T
c.*1980+6617T>A (n.*1980+6617T>A)
c.636+6617T>A
n.3995+6617T>A
c.526A>T (p.Met176Leu)
c.721A>T (p.Met241Leu)
c.592A>T (p.Met198Leu)
n.1415-308A>T
3g.132675298T>ACA354576128NPHP3-ACAD11,UBA5c.1034T>A (p.Met345Lys)
c.863T>A (p.Met288Lys)
c.695T>A (p.Met232Lys)
n.2294T>A
c.*1980+6616A>T (n.*1980+6616A>T)
c.636+6616A>T
n.3995+6616A>T
c.527T>A (p.Met176Lys)
c.722T>A (p.Met241Lys)
c.593T>A (p.Met198Lys)
n.1415-307T>A
3g.132675298T>CCA2621474NPHP3-ACAD11,UBA5c.1034T>C (p.Met345Thr)
c.863T>C (p.Met288Thr)
c.695T>C (p.Met232Thr)
n.2294T>C
c.*1980+6616A>G (n.*1980+6616A>G)
c.636+6616A>G
n.3995+6616A>G
c.527T>C (p.Met176Thr)
c.722T>C (p.Met241Thr)
c.593T>C (p.Met198Thr)
n.1415-307T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.132675298T>GCA354576130NPHP3-ACAD11,UBA5c.1034T>G (p.Met345Arg)
c.863T>G (p.Met288Arg)
c.695T>G (p.Met232Arg)
n.2294T>G
c.*1980+6616A>C (n.*1980+6616A>C)
c.636+6616A>C
n.3995+6616A>C
c.527T>G (p.Met176Arg)
c.722T>G (p.Met241Arg)
c.593T>G (p.Met198Arg)
n.1415-307T>G
3g.132675298T=CA1402639497NPHP3-ACAD11,UBA5c.1034T= (p.Met345=)
c.863T= (p.Met288=)
c.695T= (p.Met232=)
n.2294T=
c.*1980+6616A= (n.*1980+6616A=)
c.636+6616A=
n.3995+6616A=
c.527T= (p.Met176=)
c.722T= (p.Met241=)
c.593T= (p.Met198=)
n.1415-307T=
3g.132675299G>ACA354576136NPHP3-ACAD11,UBA5c.1035G>A (p.Met345Ile)
c.864G>A (p.Met288Ile)
c.696G>A (p.Met232Ile)
n.2295G>A
c.*1980+6615C>T (n.*1980+6615C>T)
c.636+6615C>T
n.3995+6615C>T
c.528G>A (p.Met176Ile)
c.723G>A (p.Met241Ile)
c.594G>A (p.Met198Ile)
n.1415-306G>A
3g.132675299G>CCA354576134NPHP3-ACAD11,UBA5c.1035G>C (p.Met345Ile)
c.864G>C (p.Met288Ile)
c.696G>C (p.Met232Ile)
n.2295G>C
c.*1980+6615C>G (n.*1980+6615C>G)
c.636+6615C>G
n.3995+6615C>G
c.528G>C (p.Met176Ile)
c.723G>C (p.Met241Ile)
c.594G>C (p.Met198Ile)
n.1415-306G>C
3g.132675299G>TCA354576132NPHP3-ACAD11,UBA5c.1035G>T (p.Met345Ile)
c.864G>T (p.Met288Ile)
c.696G>T (p.Met232Ile)
n.2295G>T
c.*1980+6615C>A (n.*1980+6615C>A)
c.636+6615C>A
n.3995+6615C>A
c.528G>T (p.Met176Ile)
c.723G>T (p.Met241Ile)
c.594G>T (p.Met198Ile)
n.1415-306G>T
3g.132675300C>ACA354576138NPHP3-ACAD11,UBA5c.1036C>A (p.Gln346Lys)
c.865C>A (p.Gln289Lys)
c.697C>A (p.Gln233Lys)
n.2296C>A
c.*1980+6614G>T (n.*1980+6614G>T)
c.636+6614G>T
n.3995+6614G>T
c.529C>A (p.Gln177Lys)
c.724C>A (p.Gln242Lys)
c.595C>A (p.Gln199Lys)
n.1415-305C>A
3g.132675300C>GCA354576140NPHP3-ACAD11,UBA5c.1036C>G (p.Gln346Glu)
c.865C>G (p.Gln289Glu)
c.697C>G (p.Gln233Glu)
n.2296C>G
c.*1980+6614G>C (n.*1980+6614G>C)
c.636+6614G>C
n.3995+6614G>C
c.529C>G (p.Gln177Glu)
c.724C>G (p.Gln242Glu)
c.595C>G (p.Gln199Glu)
n.1415-305C>G
3g.132675300C>TCA354576142NPHP3-ACAD11,UBA5c.1036C>T (p.Gln346Ter)
c.865C>T (p.Gln289Ter)
c.697C>T (p.Gln233Ter)
n.2296C>T
c.*1980+6614G>A (n.*1980+6614G>A)
c.636+6614G>A
n.3995+6614G>A
c.529C>T (p.Gln177Ter)
c.724C>T (p.Gln242Ter)
c.595C>T (p.Gln199Ter)
n.1415-305C>T
 gnomAD v4
3g.132675301A>CCA354576144NPHP3-ACAD11,UBA5c.1037A>C (p.Gln346Pro)
c.866A>C (p.Gln289Pro)
c.698A>C (p.Gln233Pro)
n.2297A>C
c.*1980+6613T>G (n.*1980+6613T>G)
c.636+6613T>G
n.3995+6613T>G
c.530A>C (p.Gln177Pro)
c.725A>C (p.Gln242Pro)
c.596A>C (p.Gln199Pro)
n.1415-304A>C
3g.132675301A>GCA354576146NPHP3-ACAD11,UBA5c.1037A>G (p.Gln346Arg)
c.866A>G (p.Gln289Arg)
c.698A>G (p.Gln233Arg)
n.2297A>G
c.*1980+6613T>C (n.*1980+6613T>C)
c.636+6613T>C
n.3995+6613T>C
c.530A>G (p.Gln177Arg)
c.725A>G (p.Gln242Arg)
c.596A>G (p.Gln199Arg)
n.1415-304A>G
3g.132675301A>TCA354576148NPHP3-ACAD11,UBA5c.1037A>T (p.Gln346Leu)
c.866A>T (p.Gln289Leu)
c.698A>T (p.Gln233Leu)
n.2297A>T
c.*1980+6613T>A (n.*1980+6613T>A)
c.636+6613T>A
n.3995+6613T>A
c.530A>T (p.Gln177Leu)
c.725A>T (p.Gln242Leu)
c.596A>T (p.Gln199Leu)
n.1415-304A>T
3g.132675302G>ACA435799894NPHP3-ACAD11,UBA5c.1038G>A (p.Gln346=)
c.867G>A (p.Gln289=)
c.699G>A (p.Gln233=)
n.2298G>A
c.*1980+6612C>T (n.*1980+6612C>T)
c.636+6612C>T
n.3995+6612C>T
c.531G>A (p.Gln177=)
c.726G>A (p.Gln242=)
c.597G>A (p.Gln199=)
n.1415-303G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.132675302G>CCA354576149NPHP3-ACAD11,UBA5c.1038G>C (p.Gln346His)
c.867G>C (p.Gln289His)
c.699G>C (p.Gln233His)
n.2298G>C
c.*1980+6612C>G (n.*1980+6612C>G)
c.636+6612C>G
n.3995+6612C>G
c.531G>C (p.Gln177His)
c.726G>C (p.Gln242His)
c.597G>C (p.Gln199His)
n.1415-303G>C
3g.132675302G=CA1402639504NPHP3-ACAD11,UBA5c.1038G= (p.Gln346=)
c.867G= (p.Gln289=)
c.699G= (p.Gln233=)
n.2298G=
c.*1980+6612C= (n.*1980+6612C=)
c.636+6612C=
n.3995+6612C=
c.531G= (p.Gln177=)
c.726G= (p.Gln242=)
c.597G= (p.Gln199=)
n.1415-303G=
3g.132675302G>TCA354576151NPHP3-ACAD11,UBA5c.1038G>T (p.Gln346His)
c.867G>T (p.Gln289His)
c.699G>T (p.Gln233His)
n.2298G>T
c.*1980+6612C>A (n.*1980+6612C>A)
c.636+6612C>A
n.3995+6612C>A
c.531G>T (p.Gln177His)
c.726G>T (p.Gln242His)
c.597G>T (p.Gln199His)
n.1415-303G>T
3g.132675303G>ACA354576153NPHP3-ACAD11,UBA5c.1039G>A (p.Asp347Asn)
c.868G>A (p.Asp290Asn)
c.700G>A (p.Asp234Asn)
n.2299G>A
c.*1980+6611C>T (n.*1980+6611C>T)
c.636+6611C>T
n.3995+6611C>T
c.532G>A (p.Asp178Asn)
c.727G>A (p.Asp243Asn)
c.598G>A (p.Asp200Asn)
n.1415-302G>A
3g.132675303G>CCA354576155NPHP3-ACAD11,UBA5c.1039G>C (p.Asp347His)
c.868G>C (p.Asp290His)
c.700G>C (p.Asp234His)
n.2299G>C
c.*1980+6611C>G (n.*1980+6611C>G)
c.636+6611C>G
n.3995+6611C>G
c.532G>C (p.Asp178His)
c.727G>C (p.Asp243His)
c.598G>C (p.Asp200His)
n.1415-302G>C
3g.132675303G>TCA354576157NPHP3-ACAD11,UBA5c.1039G>T (p.Asp347Tyr)
c.868G>T (p.Asp290Tyr)
c.700G>T (p.Asp234Tyr)
n.2299G>T
c.*1980+6611C>A (n.*1980+6611C>A)
c.636+6611C>A
n.3995+6611C>A
c.532G>T (p.Asp178Tyr)
c.727G>T (p.Asp243Tyr)
c.598G>T (p.Asp200Tyr)
n.1415-302G>T
3g.132675304A=CA1402639512NPHP3-ACAD11,UBA5c.1040A= (p.Asp347=)
c.869A= (p.Asp290=)
c.701A= (p.Asp234=)
n.2300A=
c.*1980+6610T= (n.*1980+6610T=)
c.636+6610T=
n.3995+6610T=
c.533A= (p.Asp178=)
c.728A= (p.Asp243=)
c.599A= (p.Asp200=)
n.1415-301A=
3g.132675304A>CCA354576160NPHP3-ACAD11,UBA5c.1040A>C (p.Asp347Ala)
c.869A>C (p.Asp290Ala)
c.701A>C (p.Asp234Ala)
n.2300A>C
c.*1980+6610T>G (n.*1980+6610T>G)
c.636+6610T>G
n.3995+6610T>G
c.533A>C (p.Asp178Ala)
c.728A>C (p.Asp243Ala)
c.599A>C (p.Asp200Ala)
n.1415-301A>C
3g.132675304A>GCA354576161NPHP3-ACAD11,UBA5c.1040A>G (p.Asp347Gly)
c.869A>G (p.Asp290Gly)
c.701A>G (p.Asp234Gly)
n.2300A>G
c.*1980+6610T>C (n.*1980+6610T>C)
c.636+6610T>C
n.3995+6610T>C
c.533A>G (p.Asp178Gly)
c.728A>G (p.Asp243Gly)
c.599A>G (p.Asp200Gly)
n.1415-301A>G
3g.132675304A>TCA2621475NPHP3-ACAD11,UBA5c.1040A>T (p.Asp347Val)
c.869A>T (p.Asp290Val)
c.701A>T (p.Asp234Val)
n.2300A>T
c.*1980+6610T>A (n.*1980+6610T>A)
c.636+6610T>A
n.3995+6610T>A
c.533A>T (p.Asp178Val)
c.728A>T (p.Asp243Val)
c.599A>T (p.Asp200Val)
n.1415-301A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.132675305T>ACA354576163NPHP3-ACAD11,UBA5c.1041T>A (p.Asp347Glu)
c.870T>A (p.Asp290Glu)
c.702T>A (p.Asp234Glu)
n.2301T>A
c.*1980+6609A>T (n.*1980+6609A>T)
c.636+6609A>T
n.3995+6609A>T
c.534T>A (p.Asp178Glu)
c.729T>A (p.Asp243Glu)
c.600T>A (p.Asp200Glu)
n.1415-300T>A
3g.132675305T>CCA435799895NPHP3-ACAD11,UBA5c.1041T>C (p.Asp347=)
c.870T>C (p.Asp290=)
c.702T>C (p.Asp234=)
n.2301T>C
c.*1980+6609A>G (n.*1980+6609A>G)
c.636+6609A>G
n.3995+6609A>G
c.534T>C (p.Asp178=)
c.729T>C (p.Asp243=)
c.600T>C (p.Asp200=)
n.1415-300T>C
 ClinVar dbSNP
3g.132675305T>GCA354576164NPHP3-ACAD11,UBA5c.1041T>G (p.Asp347Glu)
c.870T>G (p.Asp290Glu)
c.702T>G (p.Asp234Glu)
n.2301T>G
c.*1980+6609A>C (n.*1980+6609A>C)
c.636+6609A>C
n.3995+6609A>C
c.534T>G (p.Asp178Glu)
c.729T>G (p.Asp243Glu)
c.600T>G (p.Asp200Glu)
n.1415-300T>G
3g.132675311dupCA1402639518NPHP3-ACAD11,UBA5c.1047dup (p.Pro350SerfsTer12)
c.876dup (p.Pro293SerfsTer12)
c.708dup (p.Pro237SerfsTer12)
n.2307dup
c.*1980+6609dup (n.*1980+6609dup)
c.636+6609dup
n.3995+6609dup
c.540dup (p.Pro181SerfsTer12)
c.735dup (p.Pro246SerfsTer12)
c.606dup (p.Pro203SerfsTer12)
n.1415-294dup
 ClinVar dbSNP
3g.132675311delCA645536585NPHP3-ACAD11,UBA5c.1047del (p.Pro350LeufsTer5)
c.876del (p.Pro293LeufsTer5)
c.708del (p.Pro237LeufsTer5)
n.2307del
c.*1980+6609del (n.*1980+6609del)
c.636+6609del
n.3995+6609del
c.540del (p.Pro181LeufsTer5)
c.735del (p.Pro246LeufsTer5)
c.606del (p.Pro203LeufsTer5)
n.1415-294del
 COSMIC
3g.132675306T>ACA354576166NPHP3-ACAD11,UBA5c.1042T>A (p.Phe348Ile)
c.871T>A (p.Phe291Ile)
c.703T>A (p.Phe235Ile)
n.2302T>A
c.*1980+6608A>T (n.*1980+6608A>T)
c.636+6608A>T
n.3995+6608A>T
c.535T>A (p.Phe179Ile)
c.730T>A (p.Phe244Ile)
c.601T>A (p.Phe201Ile)
n.1415-299T>A
 ClinVar
3g.132675306T>CCA354576168NPHP3-ACAD11,UBA5c.1042T>C (p.Phe348Leu)
c.871T>C (p.Phe291Leu)
c.703T>C (p.Phe235Leu)
n.2302T>C
c.*1980+6608A>G (n.*1980+6608A>G)
c.636+6608A>G
n.3995+6608A>G
c.535T>C (p.Phe179Leu)
c.730T>C (p.Phe244Leu)
c.601T>C (p.Phe201Leu)
n.1415-299T>C
3g.132675306T>GCA354576169NPHP3-ACAD11,UBA5c.1042T>G (p.Phe348Val)
c.871T>G (p.Phe291Val)
c.703T>G (p.Phe235Val)
n.2302T>G
c.*1980+6608A>C (n.*1980+6608A>C)
c.636+6608A>C
n.3995+6608A>C
c.535T>G (p.Phe179Val)
c.730T>G (p.Phe244Val)
c.601T>G (p.Phe201Val)
n.1415-299T>G
3g.132675307T>ACA354576172NPHP3-ACAD11,UBA5c.1043T>A (p.Phe348Tyr)
c.872T>A (p.Phe291Tyr)
c.704T>A (p.Phe235Tyr)
n.2303T>A
c.*1980+6607A>T (n.*1980+6607A>T)
c.636+6607A>T
n.3995+6607A>T
c.536T>A (p.Phe179Tyr)
c.731T>A (p.Phe244Tyr)
c.602T>A (p.Phe201Tyr)
n.1415-298T>A
3g.132675307T>CCA354576174NPHP3-ACAD11,UBA5c.1043T>C (p.Phe348Ser)
c.872T>C (p.Phe291Ser)
c.704T>C (p.Phe235Ser)
n.2303T>C
c.*1980+6607A>G (n.*1980+6607A>G)
c.636+6607A>G
n.3995+6607A>G
c.536T>C (p.Phe179Ser)
c.731T>C (p.Phe244Ser)
c.602T>C (p.Phe201Ser)
n.1415-298T>C
3g.132675307T>GCA354576175NPHP3-ACAD11,UBA5c.1043T>G (p.Phe348Cys)
c.872T>G (p.Phe291Cys)
c.704T>G (p.Phe235Cys)
n.2303T>G
c.*1980+6607A>C (n.*1980+6607A>C)
c.636+6607A>C
n.3995+6607A>C
c.536T>G (p.Phe179Cys)
c.731T>G (p.Phe244Cys)
c.602T>G (p.Phe201Cys)
n.1415-298T>G
3g.132675308T>ACA354576177NPHP3-ACAD11,UBA5c.1044T>A (p.Phe348Leu)
c.873T>A (p.Phe291Leu)
c.705T>A (p.Phe235Leu)
n.2304T>A
c.*1980+6606A>T (n.*1980+6606A>T)
c.636+6606A>T
n.3995+6606A>T
c.537T>A (p.Phe179Leu)
c.732T>A (p.Phe244Leu)
c.603T>A (p.Phe201Leu)
n.1415-297T>A
3g.132675308T>CCA435799896NPHP3-ACAD11,UBA5c.1044T>C (p.Phe348=)
c.873T>C (p.Phe291=)
c.705T>C (p.Phe235=)
n.2304T>C
c.*1980+6606A>G (n.*1980+6606A>G)
c.636+6606A>G
n.3995+6606A>G
c.537T>C (p.Phe179=)
c.732T>C (p.Phe244=)
c.603T>C (p.Phe201=)
n.1415-297T>C
3g.132675308T>GCA354576179NPHP3-ACAD11,UBA5c.1044T>G (p.Phe348Leu)
c.873T>G (p.Phe291Leu)
c.705T>G (p.Phe235Leu)
n.2304T>G
c.*1980+6606A>C (n.*1980+6606A>C)
c.636+6606A>C
n.3995+6606A>C
c.537T>G (p.Phe179Leu)
c.732T>G (p.Phe244Leu)
c.603T>G (p.Phe201Leu)
n.1415-297T>G
3g.132675309T>ACA354576181NPHP3-ACAD11,UBA5c.1045T>A (p.Phe349Ile)
c.874T>A (p.Phe292Ile)
c.706T>A (p.Phe236Ile)
n.2305T>A
c.*1980+6605A>T (n.*1980+6605A>T)
c.636+6605A>T
n.3995+6605A>T
c.538T>A (p.Phe180Ile)
c.733T>A (p.Phe245Ile)
c.604T>A (p.Phe202Ile)
n.1415-296T>A
3g.132675309T>CCA354576183NPHP3-ACAD11,UBA5c.1045T>C (p.Phe349Leu)
c.874T>C (p.Phe292Leu)
c.706T>C (p.Phe236Leu)
n.2305T>C
c.*1980+6605A>G (n.*1980+6605A>G)
c.636+6605A>G
n.3995+6605A>G
c.538T>C (p.Phe180Leu)
c.733T>C (p.Phe245Leu)
c.604T>C (p.Phe202Leu)
n.1415-296T>C
3g.132675309T>GCA354576184NPHP3-ACAD11,UBA5c.1045T>G (p.Phe349Val)
c.874T>G (p.Phe292Val)
c.706T>G (p.Phe236Val)
n.2305T>G
c.*1980+6605A>C (n.*1980+6605A>C)
c.636+6605A>C
n.3995+6605A>C
c.538T>G (p.Phe180Val)
c.733T>G (p.Phe245Val)
c.604T>G (p.Phe202Val)
n.1415-296T>G
3g.132675310T>ACA354576185NPHP3-ACAD11,UBA5c.1046T>A (p.Phe349Tyr)
c.875T>A (p.Phe292Tyr)
c.707T>A (p.Phe236Tyr)
n.2306T>A
c.*1980+6604A>T (n.*1980+6604A>T)
c.636+6604A>T
n.3995+6604A>T
c.539T>A (p.Phe180Tyr)
c.734T>A (p.Phe245Tyr)
c.605T>A (p.Phe202Tyr)
n.1415-295T>A
3g.132675310T>CCA354576188NPHP3-ACAD11,UBA5c.1046T>C (p.Phe349Ser)
c.875T>C (p.Phe292Ser)
c.707T>C (p.Phe236Ser)
n.2306T>C
c.*1980+6604A>G (n.*1980+6604A>G)
c.636+6604A>G
n.3995+6604A>G
c.539T>C (p.Phe180Ser)
c.734T>C (p.Phe245Ser)
c.605T>C (p.Phe202Ser)
n.1415-295T>C
3g.132675310T>GCA354576187NPHP3-ACAD11,UBA5c.1046T>G (p.Phe349Cys)
c.875T>G (p.Phe292Cys)
c.707T>G (p.Phe236Cys)
n.2306T>G
c.*1980+6604A>C (n.*1980+6604A>C)
c.636+6604A>C
n.3995+6604A>C
c.539T>G (p.Phe180Cys)
c.734T>G (p.Phe245Cys)
c.605T>G (p.Phe202Cys)
n.1415-295T>G
3g.132675311T>ACA354576190NPHP3-ACAD11,UBA5c.1047T>A (p.Phe349Leu)
c.876T>A (p.Phe292Leu)
c.708T>A (p.Phe236Leu)
n.2307T>A
c.*1980+6603A>T (n.*1980+6603A>T)
c.636+6603A>T
n.3995+6603A>T
c.540T>A (p.Phe180Leu)
c.735T>A (p.Phe245Leu)
c.606T>A (p.Phe202Leu)
n.1415-294T>A
3g.132675311T>CCA435799897NPHP3-ACAD11,UBA5c.1047T>C (p.Phe349=)
c.876T>C (p.Phe292=)
c.708T>C (p.Phe236=)
n.2307T>C
c.*1980+6603A>G (n.*1980+6603A>G)
c.636+6603A>G
n.3995+6603A>G
c.540T>C (p.Phe180=)
c.735T>C (p.Phe245=)
c.606T>C (p.Phe202=)
n.1415-294T>C
 dbSNP
3g.132675311T>GCA354576192NPHP3-ACAD11,UBA5c.1047T>G (p.Phe349Leu)
c.876T>G (p.Phe292Leu)
c.708T>G (p.Phe236Leu)
n.2307T>G
c.*1980+6603A>C (n.*1980+6603A>C)
c.636+6603A>C
n.3995+6603A>C
c.540T>G (p.Phe180Leu)
c.735T>G (p.Phe245Leu)
c.606T>G (p.Phe202Leu)
n.1415-294T>G
3g.132675311T=CA1402639521NPHP3-ACAD11,UBA5c.1047T= (p.Phe349=)
c.876T= (p.Phe292=)
c.708T= (p.Phe236=)
n.2307T=
c.*1980+6603A= (n.*1980+6603A=)
c.636+6603A=
n.3995+6603A=
c.540T= (p.Phe180=)
c.735T= (p.Phe245=)
c.606T= (p.Phe202=)
n.1415-294T=
3g.132675312C>ACA354576194NPHP3-ACAD11,UBA5c.1048C>A (p.Pro350Thr)
c.877C>A (p.Pro293Thr)
c.709C>A (p.Pro237Thr)
n.2308C>A
c.*1980+6602G>T (n.*1980+6602G>T)
c.636+6602G>T
n.3995+6602G>T
c.541C>A (p.Pro181Thr)
c.736C>A (p.Pro246Thr)
c.607C>A (p.Pro203Thr)
n.1415-293C>A
3g.132675312C>GCA354576198NPHP3-ACAD11,UBA5c.1048C>G (p.Pro350Ala)
c.877C>G (p.Pro293Ala)
c.709C>G (p.Pro237Ala)
n.2308C>G
c.*1980+6602G>C (n.*1980+6602G>C)
c.636+6602G>C
n.3995+6602G>C
c.541C>G (p.Pro181Ala)
c.736C>G (p.Pro246Ala)
c.607C>G (p.Pro203Ala)
n.1415-293C>G
3g.132675312C>TCA354576196NPHP3-ACAD11,UBA5c.1048C>T (p.Pro350Ser)
c.877C>T (p.Pro293Ser)
c.709C>T (p.Pro237Ser)
n.2308C>T
c.*1980+6602G>A (n.*1980+6602G>A)
c.636+6602G>A
n.3995+6602G>A
c.541C>T (p.Pro181Ser)
c.736C>T (p.Pro246Ser)
c.607C>T (p.Pro203Ser)
n.1415-293C>T
 gnomAD v3 gnomAD v4 COSMIC
3g.132675313C>ACA354576201NPHP3-ACAD11,UBA5c.1049C>A (p.Pro350His)
c.878C>A (p.Pro293His)
c.710C>A (p.Pro237His)
n.2309C>A
c.*1980+6601G>T (n.*1980+6601G>T)
c.636+6601G>T
n.3995+6601G>T
c.542C>A (p.Pro181His)
c.737C>A (p.Pro246His)
c.608C>A (p.Pro203His)
n.1415-292C>A
3g.132675313C>GCA354576204NPHP3-ACAD11,UBA5c.1049C>G (p.Pro350Arg)
c.878C>G (p.Pro293Arg)
c.710C>G (p.Pro237Arg)
n.2309C>G
c.*1980+6601G>C (n.*1980+6601G>C)
c.636+6601G>C
n.3995+6601G>C
c.542C>G (p.Pro181Arg)
c.737C>G (p.Pro246Arg)
c.608C>G (p.Pro203Arg)
n.1415-292C>G
3g.132675313C>TCA354576202NPHP3-ACAD11,UBA5c.1049C>T (p.Pro350Leu)
c.878C>T (p.Pro293Leu)
c.710C>T (p.Pro237Leu)
n.2309C>T
c.*1980+6601G>A (n.*1980+6601G>A)
c.636+6601G>A
n.3995+6601G>A
c.542C>T (p.Pro181Leu)
c.737C>T (p.Pro246Leu)
c.608C>T (p.Pro203Leu)
n.1415-292C>T
 gnomAD v3 gnomAD v4
3g.132675314T>ACA435799898NPHP3-ACAD11,UBA5c.1050T>A (p.Pro350=)
c.879T>A (p.Pro293=)
c.711T>A (p.Pro237=)
n.2310T>A
c.*1980+6600A>T (n.*1980+6600A>T)
c.636+6600A>T
n.3995+6600A>T
c.543T>A (p.Pro181=)
c.738T>A (p.Pro246=)
c.609T>A (p.Pro203=)
n.1415-291T>A
3g.132675314T>CCA435799899NPHP3-ACAD11,UBA5c.1050T>C (p.Pro350=)
c.879T>C (p.Pro293=)
c.711T>C (p.Pro237=)
n.2310T>C
c.*1980+6600A>G (n.*1980+6600A>G)
c.636+6600A>G
n.3995+6600A>G
c.543T>C (p.Pro181=)
c.738T>C (p.Pro246=)
c.609T>C (p.Pro203=)
n.1415-291T>C
3g.132675314T>GCA435799900NPHP3-ACAD11,UBA5c.1050T>G (p.Pro350=)
c.879T>G (p.Pro293=)
c.711T>G (p.Pro237=)
n.2310T>G
c.*1980+6600A>C (n.*1980+6600A>C)
c.636+6600A>C
n.3995+6600A>C
c.543T>G (p.Pro181=)
c.738T>G (p.Pro246=)
c.609T>G (p.Pro203=)
n.1415-291T>G
3g.132675315A=CA1402639527NPHP3-ACAD11,UBA5c.1051A= (p.Thr351=)
c.880A= (p.Thr294=)
c.712A= (p.Thr238=)
n.2311A=
c.*1980+6599T= (n.*1980+6599T=)
c.636+6599T=
n.3995+6599T=
c.544A= (p.Thr182=)
c.739A= (p.Thr247=)
c.610A= (p.Thr204=)
n.1415-290A=
3g.132675315A>CCA354576207NPHP3-ACAD11,UBA5c.1051A>C (p.Thr351Pro)
c.880A>C (p.Thr294Pro)
c.712A>C (p.Thr238Pro)
n.2311A>C
c.*1980+6599T>G (n.*1980+6599T>G)
c.636+6599T>G
n.3995+6599T>G
c.544A>C (p.Thr182Pro)
c.739A>C (p.Thr247Pro)
c.610A>C (p.Thr204Pro)
n.1415-290A>C
3g.132675315A>GCA354576210NPHP3-ACAD11,UBA5c.1051A>G (p.Thr351Ala)
c.880A>G (p.Thr294Ala)
c.712A>G (p.Thr238Ala)
n.2311A>G
c.*1980+6599T>C (n.*1980+6599T>C)
c.636+6599T>C
n.3995+6599T>C
c.544A>G (p.Thr182Ala)
c.739A>G (p.Thr247Ala)
c.610A>G (p.Thr204Ala)
n.1415-290A>G
 ClinVar dbSNP
3g.132675315A>TCA354576208NPHP3-ACAD11,UBA5c.1051A>T (p.Thr351Ser)
c.880A>T (p.Thr294Ser)
c.712A>T (p.Thr238Ser)
n.2311A>T
c.*1980+6599T>A (n.*1980+6599T>A)
c.636+6599T>A
n.3995+6599T>A
c.544A>T (p.Thr182Ser)
c.739A>T (p.Thr247Ser)
c.610A>T (p.Thr204Ser)
n.1415-290A>T
3g.132675316C>ACA354576211NPHP3-ACAD11,UBA5c.1052C>A (p.Thr351Asn)
c.881C>A (p.Thr294Asn)
c.713C>A (p.Thr238Asn)
n.2312C>A
c.*1980+6598G>T (n.*1980+6598G>T)
c.636+6598G>T
n.3995+6598G>T
c.545C>A (p.Thr182Asn)
c.740C>A (p.Thr247Asn)
c.611C>A (p.Thr204Asn)
n.1415-289C>A
3g.132675316C=CA1402639530NPHP3-ACAD11,UBA5c.1052C= (p.Thr351=)
c.881C= (p.Thr294=)
c.713C= (p.Thr238=)
n.2312C=
c.*1980+6598G= (n.*1980+6598G=)
c.636+6598G=
n.3995+6598G=
c.545C= (p.Thr182=)
c.740C= (p.Thr247=)
c.611C= (p.Thr204=)
n.1415-289C=
3g.132675316C>GCA2621476NPHP3-ACAD11,UBA5c.1052C>G (p.Thr351Ser)
c.881C>G (p.Thr294Ser)
c.713C>G (p.Thr238Ser)
n.2312C>G
c.*1980+6598G>C (n.*1980+6598G>C)
c.636+6598G>C
n.3995+6598G>C
c.545C>G (p.Thr182Ser)
c.740C>G (p.Thr247Ser)
c.611C>G (p.Thr204Ser)
n.1415-289C>G
 dbSNP ExAC
3g.132675316C>TCA354576214NPHP3-ACAD11,UBA5c.1052C>T (p.Thr351Ile)
c.881C>T (p.Thr294Ile)
c.713C>T (p.Thr238Ile)
n.2312C>T
c.*1980+6598G>A (n.*1980+6598G>A)
c.636+6598G>A
n.3995+6598G>A
c.545C>T (p.Thr182Ile)
c.740C>T (p.Thr247Ile)
c.611C>T (p.Thr204Ile)
n.1415-289C>T
3g.132675317T>ACA435799901NPHP3-ACAD11,UBA5c.1053T>A (p.Thr351=)
c.882T>A (p.Thr294=)
c.714T>A (p.Thr238=)
n.2313T>A
c.*1980+6597A>T (n.*1980+6597A>T)
c.636+6597A>T
n.3995+6597A>T
c.546T>A (p.Thr182=)
c.741T>A (p.Thr247=)
c.612T>A (p.Thr204=)
n.1415-288T>A
3g.132675317T>CCA435799902NPHP3-ACAD11,UBA5c.1053T>C (p.Thr351=)
c.882T>C (p.Thr294=)
c.714T>C (p.Thr238=)
n.2313T>C
c.*1980+6597A>G (n.*1980+6597A>G)
c.636+6597A>G
n.3995+6597A>G
c.546T>C (p.Thr182=)
c.741T>C (p.Thr247=)
c.612T>C (p.Thr204=)
n.1415-288T>C
3g.132675317T>GCA435799903NPHP3-ACAD11,UBA5c.1053T>G (p.Thr351=)
c.882T>G (p.Thr294=)
c.714T>G (p.Thr238=)
n.2313T>G
c.*1980+6597A>C (n.*1980+6597A>C)
c.636+6597A>C
n.3995+6597A>C
c.546T>G (p.Thr182=)
c.741T>G (p.Thr247=)
c.612T>G (p.Thr204=)
n.1415-288T>G
 dbSNP
3g.132675317T=CA1402639534NPHP3-ACAD11,UBA5c.1053T= (p.Thr351=)
c.882T= (p.Thr294=)
c.714T= (p.Thr238=)
n.2313T=
c.*1980+6597A= (n.*1980+6597A=)
c.636+6597A=
n.3995+6597A=
c.546T= (p.Thr182=)
c.741T= (p.Thr247=)
c.612T= (p.Thr204=)
n.1415-288T=
3g.132675317_132675318delinsTACA1402639533NPHP3-ACAD11,UBA5c.1053_1054delinsTA (p.Thr351=)
c.882_883delinsTA (p.Thr294=)
c.714_715delinsTA (p.Thr238=)
n.2313_2314delinsTA
c.*1980+6596_*1980+6597delinsTA (n.*1980+6596_*1980+6597delinsTA)
c.636+6596_636+6597delinsTA
n.3995+6596_3995+6597delinsTA
c.546_547delinsTA (p.Thr182=)
c.741_742delinsTA (p.Thr247=)
c.612_613delinsTA (p.Thr204=)
n.1415-288_1415-287delinsTA
3g.132675318delCA899009306NPHP3-ACAD11,UBA5c.1054del (p.Met352CysfsTer3)
c.883del (p.Met295CysfsTer3)
c.715del (p.Met239CysfsTer3)
n.2314del
c.*1980+6596del (n.*1980+6596del)
c.636+6596del
n.3995+6596del
c.547del (p.Met183CysfsTer3)
c.742del (p.Met248CysfsTer3)
c.613del (p.Met205CysfsTer3)
n.1415-287del
 dbSNP
3g.132675318A=CA1402639539NPHP3-ACAD11,UBA5c.1054A= (p.Met352=)
c.883A= (p.Met295=)
c.715A= (p.Met239=)
n.2314A=
c.*1980+6596T= (n.*1980+6596T=)
c.636+6596T=
n.3995+6596T=
c.547A= (p.Met183=)
c.742A= (p.Met248=)
c.613A= (p.Met205=)
n.1415-287A=
3g.132675318A>CCA354576216NPHP3-ACAD11,UBA5c.1054A>C (p.Met352Leu)
c.883A>C (p.Met295Leu)
c.715A>C (p.Met239Leu)
n.2314A>C
c.*1980+6596T>G (n.*1980+6596T>G)
c.636+6596T>G
n.3995+6596T>G
c.547A>C (p.Met183Leu)
c.742A>C (p.Met248Leu)
c.613A>C (p.Met205Leu)
n.1415-287A>C
3g.132675318A>GCA354576218NPHP3-ACAD11,UBA5c.1054A>G (p.Met352Val)
c.883A>G (p.Met295Val)
c.715A>G (p.Met239Val)
n.2314A>G
c.*1980+6596T>C (n.*1980+6596T>C)
c.636+6596T>C
n.3995+6596T>C
c.547A>G (p.Met183Val)
c.742A>G (p.Met248Val)
c.613A>G (p.Met205Val)
n.1415-287A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.132675318A>TCA354576219NPHP3-ACAD11,UBA5c.1054A>T (p.Met352Leu)
c.883A>T (p.Met295Leu)
c.715A>T (p.Met239Leu)
n.2314A>T
c.*1980+6596T>A (n.*1980+6596T>A)
c.636+6596T>A
n.3995+6596T>A
c.547A>T (p.Met183Leu)
c.742A>T (p.Met248Leu)
c.613A>T (p.Met205Leu)
n.1415-287A>T
3g.132675319T>ACA354576222NPHP3-ACAD11,UBA5c.1055T>A (p.Met352Lys)
c.884T>A (p.Met295Lys)
c.716T>A (p.Met239Lys)
n.2315T>A
c.*1980+6595A>T (n.*1980+6595A>T)
c.636+6595A>T
n.3995+6595A>T
c.548T>A (p.Met183Lys)
c.743T>A (p.Met248Lys)
c.614T>A (p.Met205Lys)
n.1415-286T>A
3g.132675319T>CCA354576223NPHP3-ACAD11,UBA5c.1055T>C (p.Met352Thr)
c.884T>C (p.Met295Thr)
c.716T>C (p.Met239Thr)
n.2315T>C
c.*1980+6595A>G (n.*1980+6595A>G)
c.636+6595A>G
n.3995+6595A>G
c.548T>C (p.Met183Thr)
c.743T>C (p.Met248Thr)
c.614T>C (p.Met205Thr)
n.1415-286T>C
 dbSNP gnomAD v4
3g.132675319T>GCA354576225NPHP3-ACAD11,UBA5c.1055T>G (p.Met352Arg)
c.884T>G (p.Met295Arg)
c.716T>G (p.Met239Arg)
n.2315T>G
c.*1980+6595A>C (n.*1980+6595A>C)
c.636+6595A>C
n.3995+6595A>C
c.548T>G (p.Met183Arg)
c.743T>G (p.Met248Arg)
c.614T>G (p.Met205Arg)
n.1415-286T>G
3g.132675319T=CA1402639541NPHP3-ACAD11,UBA5c.1055T= (p.Met352=)
c.884T= (p.Met295=)
c.716T= (p.Met239=)
n.2315T=
c.*1980+6595A= (n.*1980+6595A=)
c.636+6595A=
n.3995+6595A=
c.548T= (p.Met183=)
c.743T= (p.Met248=)
c.614T= (p.Met205=)
n.1415-286T=
3g.132675320G>ACA354576227NPHP3-ACAD11,UBA5c.1056G>A (p.Met352Ile)
c.885G>A (p.Met295Ile)
c.717G>A (p.Met239Ile)
n.2316G>A
c.*1980+6594C>T (n.*1980+6594C>T)
c.636+6594C>T
n.3995+6594C>T
c.549G>A (p.Met183Ile)
c.744G>A (p.Met248Ile)
c.615G>A (p.Met205Ile)
n.1415-285G>A
3g.132675320G>CCA354576229NPHP3-ACAD11,UBA5c.1056G>C (p.Met352Ile)
c.885G>C (p.Met295Ile)
c.717G>C (p.Met239Ile)
n.2316G>C
c.*1980+6594C>G (n.*1980+6594C>G)
c.636+6594C>G
n.3995+6594C>G
c.549G>C (p.Met183Ile)
c.744G>C (p.Met248Ile)
c.615G>C (p.Met205Ile)
n.1415-285G>C
3g.132675320G>TCA354576231NPHP3-ACAD11,UBA5c.1056G>T (p.Met352Ile)
c.885G>T (p.Met295Ile)
c.717G>T (p.Met239Ile)
n.2316G>T
c.*1980+6594C>A (n.*1980+6594C>A)
c.636+6594C>A
n.3995+6594C>A
c.549G>T (p.Met183Ile)
c.744G>T (p.Met248Ile)
c.615G>T (p.Met205Ile)
n.1415-285G>T
3g.132675321T>ACA354576237NPHP3-ACAD11,UBA5c.1057T>A (p.Ser353Thr)
c.886T>A (p.Ser296Thr)
c.718T>A (p.Ser240Thr)
n.2317T>A
c.*1980+6593A>T (n.*1980+6593A>T)
c.636+6593A>T
n.3995+6593A>T
c.550T>A (p.Ser184Thr)
c.745T>A (p.Ser249Thr)
c.616T>A (p.Ser206Thr)
n.1415-284T>A
3g.132675321T>CCA354576235NPHP3-ACAD11,UBA5c.1057T>C (p.Ser353Pro)
c.886T>C (p.Ser296Pro)
c.718T>C (p.Ser240Pro)
n.2317T>C
c.*1980+6593A>G (n.*1980+6593A>G)
c.636+6593A>G
n.3995+6593A>G
c.550T>C (p.Ser184Pro)
c.745T>C (p.Ser249Pro)
c.616T>C (p.Ser206Pro)
n.1415-284T>C
3g.132675321T>GCA354576233NPHP3-ACAD11,UBA5c.1057T>G (p.Ser353Ala)
c.886T>G (p.Ser296Ala)
c.718T>G (p.Ser240Ala)
n.2317T>G
c.*1980+6593A>C (n.*1980+6593A>C)
c.636+6593A>C
n.3995+6593A>C
c.550T>G (p.Ser184Ala)
c.745T>G (p.Ser249Ala)
c.616T>G (p.Ser206Ala)
n.1415-284T>G
3g.132675322C>ACA354576239NPHP3-ACAD11,UBA5c.1058C>A (p.Ser353Tyr)
c.887C>A (p.Ser296Tyr)
c.719C>A (p.Ser240Tyr)
n.2318C>A
c.*1980+6592G>T (n.*1980+6592G>T)
c.636+6592G>T
n.3995+6592G>T
c.551C>A (p.Ser184Tyr)
c.746C>A (p.Ser249Tyr)
c.617C>A (p.Ser206Tyr)
n.1415-283C>A
3g.132675322C>GCA354576241NPHP3-ACAD11,UBA5c.1058C>G (p.Ser353Cys)
c.887C>G (p.Ser296Cys)
c.719C>G (p.Ser240Cys)
n.2318C>G
c.*1980+6592G>C (n.*1980+6592G>C)
c.636+6592G>C
n.3995+6592G>C
c.551C>G (p.Ser184Cys)
c.746C>G (p.Ser249Cys)
c.617C>G (p.Ser206Cys)
n.1415-283C>G
3g.132675322C>TCA354576243NPHP3-ACAD11,UBA5c.1058C>T (p.Ser353Phe)
c.887C>T (p.Ser296Phe)
c.719C>T (p.Ser240Phe)
n.2318C>T
c.*1980+6592G>A (n.*1980+6592G>A)
c.636+6592G>A
n.3995+6592G>A
c.551C>T (p.Ser184Phe)
c.746C>T (p.Ser249Phe)
c.617C>T (p.Ser206Phe)
n.1415-283C>T
 gnomAD v4
3g.132675323C>ACA435799904NPHP3-ACAD11,UBA5c.1059C>A (p.Ser353=)
c.888C>A (p.Ser296=)
c.720C>A (p.Ser240=)
n.2319C>A
c.*1980+6591G>T (n.*1980+6591G>T)
c.636+6591G>T
n.3995+6591G>T
c.552C>A (p.Ser184=)
c.747C>A (p.Ser249=)
c.618C>A (p.Ser206=)
n.1415-282C>A
3g.132675323C>GCA435799905NPHP3-ACAD11,UBA5c.1059C>G (p.Ser353=)
c.888C>G (p.Ser296=)
c.720C>G (p.Ser240=)
n.2319C>G
c.*1980+6591G>C (n.*1980+6591G>C)
c.636+6591G>C
n.3995+6591G>C
c.552C>G (p.Ser184=)
c.747C>G (p.Ser249=)
c.618C>G (p.Ser206=)
n.1415-282C>G
3g.132675323C>TCA435799906NPHP3-ACAD11,UBA5c.1059C>T (p.Ser353=)
c.888C>T (p.Ser296=)
c.720C>T (p.Ser240=)
n.2319C>T
c.*1980+6591G>A (n.*1980+6591G>A)
c.636+6591G>A
n.3995+6591G>A
c.552C>T (p.Ser184=)
c.747C>T (p.Ser249=)
c.618C>T (p.Ser206=)
n.1415-282C>T
 gnomAD v4
3g.132675324A>CCA354576245NPHP3-ACAD11,UBA5c.1060A>C (p.Met354Leu)
c.889A>C (p.Met297Leu)
c.721A>C (p.Met241Leu)
n.2320A>C
c.*1980+6590T>G (n.*1980+6590T>G)
c.636+6590T>G
n.3995+6590T>G
c.553A>C (p.Met185Leu)
c.748A>C (p.Met250Leu)
c.619A>C (p.Met207Leu)
n.1415-281A>C
 gnomAD v4
3g.132675324A>GCA354576246NPHP3-ACAD11,UBA5c.1060A>G (p.Met354Val)
c.889A>G (p.Met297Val)
c.721A>G (p.Met241Val)
n.2320A>G
c.*1980+6590T>C (n.*1980+6590T>C)
c.636+6590T>C
n.3995+6590T>C
c.553A>G (p.Met185Val)
c.748A>G (p.Met250Val)
c.619A>G (p.Met207Val)
n.1415-281A>G
3g.132675324A>TCA354576248NPHP3-ACAD11,UBA5c.1060A>T (p.Met354Leu)
c.889A>T (p.Met297Leu)
c.721A>T (p.Met241Leu)
n.2320A>T
c.*1980+6590T>A (n.*1980+6590T>A)
c.636+6590T>A
n.3995+6590T>A
c.553A>T (p.Met185Leu)
c.748A>T (p.Met250Leu)
c.619A>T (p.Met207Leu)
n.1415-281A>T
3g.132675325T>ACA354576250NPHP3-ACAD11,UBA5c.1061T>A (p.Met354Lys)
c.890T>A (p.Met297Lys)
c.722T>A (p.Met241Lys)
n.2321T>A
c.*1980+6589A>T (n.*1980+6589A>T)
c.636+6589A>T
n.3995+6589A>T
c.554T>A (p.Met185Lys)
c.749T>A (p.Met250Lys)
c.620T>A (p.Met207Lys)
n.1415-280T>A
3g.132675325T>CCA354576252NPHP3-ACAD11,UBA5c.1061T>C (p.Met354Thr)
c.890T>C (p.Met297Thr)
c.722T>C (p.Met241Thr)
n.2321T>C
c.*1980+6589A>G (n.*1980+6589A>G)
c.636+6589A>G
n.3995+6589A>G
c.554T>C (p.Met185Thr)
c.749T>C (p.Met250Thr)
c.620T>C (p.Met207Thr)
n.1415-280T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.132675325T>GCA354576254NPHP3-ACAD11,UBA5c.1061T>G (p.Met354Arg)
c.890T>G (p.Met297Arg)
c.722T>G (p.Met241Arg)
n.2321T>G
c.*1980+6589A>C (n.*1980+6589A>C)
c.636+6589A>C
n.3995+6589A>C
c.554T>G (p.Met185Arg)
c.749T>G (p.Met250Arg)
c.620T>G (p.Met207Arg)
n.1415-280T>G
3g.132675325T=CA1402639543NPHP3-ACAD11,UBA5c.1061T= (p.Met354=)
c.890T= (p.Met297=)
c.722T= (p.Met241=)
n.2321T=
c.*1980+6589A= (n.*1980+6589A=)
c.636+6589A=
n.3995+6589A=
c.554T= (p.Met185=)
c.749T= (p.Met250=)
c.620T= (p.Met207=)
n.1415-280T=
3g.132675326G>ACA354576256NPHP3-ACAD11,UBA5c.1062G>A (p.Met354Ile)
c.891G>A (p.Met297Ile)
c.723G>A (p.Met241Ile)
n.2322G>A
c.*1980+6588C>T (n.*1980+6588C>T)
c.636+6588C>T
n.3995+6588C>T
c.555G>A (p.Met185Ile)
c.750G>A (p.Met250Ile)
c.621G>A (p.Met207Ile)
n.1415-279G>A
3g.132675326G>CCA354576257NPHP3-ACAD11,UBA5c.1062G>C (p.Met354Ile)
c.891G>C (p.Met297Ile)
c.723G>C (p.Met241Ile)
n.2322G>C
c.*1980+6588C>G (n.*1980+6588C>G)
c.636+6588C>G
n.3995+6588C>G
c.555G>C (p.Met185Ile)
c.750G>C (p.Met250Ile)
c.621G>C (p.Met207Ile)
n.1415-279G>C
3g.132675326G>TCA354576259NPHP3-ACAD11,UBA5c.1062G>T (p.Met354Ile)
c.891G>T (p.Met297Ile)
c.723G>T (p.Met241Ile)
n.2322G>T
c.*1980+6588C>A (n.*1980+6588C>A)
c.636+6588C>A
n.3995+6588C>A
c.555G>T (p.Met185Ile)
c.750G>T (p.Met250Ile)
c.621G>T (p.Met207Ile)
n.1415-279G>T
3g.132675327A>CCA354576261NPHP3-ACAD11,UBA5c.1063A>C (p.Lys355Gln)
c.892A>C (p.Lys298Gln)
c.724A>C (p.Lys242Gln)
n.2323A>C
c.*1980+6587T>G (n.*1980+6587T>G)
c.636+6587T>G
n.3995+6587T>G
c.556A>C (p.Lys186Gln)
c.751A>C (p.Lys251Gln)
c.622A>C (p.Lys208Gln)
n.1415-278A>C
3g.132675327A>GCA354576264NPHP3-ACAD11,UBA5c.1063A>G (p.Lys355Glu)
c.892A>G (p.Lys298Glu)
c.724A>G (p.Lys242Glu)
n.2323A>G
c.*1980+6587T>C (n.*1980+6587T>C)
c.636+6587T>C
n.3995+6587T>C
c.556A>G (p.Lys186Glu)
c.751A>G (p.Lys251Glu)
c.622A>G (p.Lys208Glu)
n.1415-278A>G
3g.132675327A>TCA354576262NPHP3-ACAD11,UBA5c.1063A>T (p.Lys355Ter)
c.892A>T (p.Lys298Ter)
c.724A>T (p.Lys242Ter)
n.2323A>T
c.*1980+6587T>A (n.*1980+6587T>A)
c.636+6587T>A
n.3995+6587T>A
c.556A>T (p.Lys186Ter)
c.751A>T (p.Lys251Ter)
c.622A>T (p.Lys208Ter)
n.1415-278A>T
3g.132675328A>CCA354576265NPHP3-ACAD11,UBA5c.1064A>C (p.Lys355Thr)
c.893A>C (p.Lys298Thr)
c.725A>C (p.Lys242Thr)
n.2324A>C
c.*1980+6586T>G (n.*1980+6586T>G)
c.636+6586T>G
n.3995+6586T>G
c.557A>C (p.Lys186Thr)
c.752A>C (p.Lys251Thr)
c.623A>C (p.Lys208Thr)
n.1415-277A>C
3g.132675328A>GCA354576267NPHP3-ACAD11,UBA5c.1064A>G (p.Lys355Arg)
c.893A>G (p.Lys298Arg)
c.725A>G (p.Lys242Arg)
n.2324A>G
c.*1980+6586T>C (n.*1980+6586T>C)
c.636+6586T>C
n.3995+6586T>C
c.557A>G (p.Lys186Arg)
c.752A>G (p.Lys251Arg)
c.623A>G (p.Lys208Arg)
n.1415-277A>G
3g.132675328A>TCA354576269NPHP3-ACAD11,UBA5c.1064A>T (p.Lys355Met)
c.893A>T (p.Lys298Met)
c.725A>T (p.Lys242Met)
n.2324A>T
c.*1980+6586T>A (n.*1980+6586T>A)
c.636+6586T>A
n.3995+6586T>A
c.557A>T (p.Lys186Met)
c.752A>T (p.Lys251Met)
c.623A>T (p.Lys208Met)
n.1415-277A>T
3g.132675329G>ACA435799907NPHP3-ACAD11,UBA5c.1065G>A (p.Lys355=)
c.894G>A (p.Lys298=)
c.726G>A (p.Lys242=)
n.2325G>A
c.*1980+6585C>T (n.*1980+6585C>T)
c.636+6585C>T
n.3995+6585C>T
c.558G>A (p.Lys186=)
c.753G>A (p.Lys251=)
c.624G>A (p.Lys208=)
n.1415-276G>A
3g.132675329G>CCA354576271NPHP3-ACAD11,UBA5c.1065G>C (p.Lys355Asn)
c.894G>C (p.Lys298Asn)
c.726G>C (p.Lys242Asn)
n.2325G>C
c.*1980+6585C>G (n.*1980+6585C>G)
c.636+6585C>G
n.3995+6585C>G
c.558G>C (p.Lys186Asn)
c.753G>C (p.Lys251Asn)
c.624G>C (p.Lys208Asn)
n.1415-276G>C
3g.132675329G>TCA354576272NPHP3-ACAD11,UBA5c.1065G>T (p.Lys355Asn)
c.894G>T (p.Lys298Asn)
c.726G>T (p.Lys242Asn)
n.2325G>T
c.*1980+6585C>A (n.*1980+6585C>A)
c.636+6585C>A
n.3995+6585C>A
c.558G>T (p.Lys186Asn)
c.753G>T (p.Lys251Asn)
c.624G>T (p.Lys208Asn)
n.1415-276G>T
3g.132675330C>ACA354576275NPHP3-ACAD11,UBA5c.1066C>A (p.Pro356Thr)
c.895C>A (p.Pro299Thr)
c.727C>A (p.Pro243Thr)
n.2326C>A
c.*1980+6584G>T (n.*1980+6584G>T)
c.636+6584G>T
n.3995+6584G>T
c.559C>A (p.Pro187Thr)
c.754C>A (p.Pro252Thr)
c.625C>A (p.Pro209Thr)
n.1415-275C>A
3g.132675330C=CA1402639548NPHP3-ACAD11,UBA5c.1066C= (p.Pro356=)
c.895C= (p.Pro299=)
c.727C= (p.Pro243=)
n.2326C=
c.*1980+6584G= (n.*1980+6584G=)
c.636+6584G=
n.3995+6584G=
c.559C= (p.Pro187=)
c.754C= (p.Pro252=)
c.625C= (p.Pro209=)
n.1415-275C=
3g.132675330C>GCA354576276NPHP3-ACAD11,UBA5c.1066C>G (p.Pro356Ala)
c.895C>G (p.Pro299Ala)
c.727C>G (p.Pro243Ala)
n.2326C>G
c.*1980+6584G>C (n.*1980+6584G>C)
c.636+6584G>C
n.3995+6584G>C
c.559C>G (p.Pro187Ala)
c.754C>G (p.Pro252Ala)
c.625C>G (p.Pro209Ala)
n.1415-275C>G
3g.132675330C>TCA2621477NPHP3-ACAD11,UBA5c.1066C>T (p.Pro356Ser)
c.895C>T (p.Pro299Ser)
c.727C>T (p.Pro243Ser)
n.2326C>T
c.*1980+6584G>A (n.*1980+6584G>A)
c.636+6584G>A
n.3995+6584G>A
c.559C>T (p.Pro187Ser)
c.754C>T (p.Pro252Ser)
c.625C>T (p.Pro209Ser)
n.1415-275C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.132675331C>ACA354576280NPHP3-ACAD11,UBA5c.1067C>A (p.Pro356Gln)
c.896C>A (p.Pro299Gln)
c.728C>A (p.Pro243Gln)
n.2327C>A
c.*1980+6583G>T (n.*1980+6583G>T)
c.636+6583G>T
n.3995+6583G>T
c.560C>A (p.Pro187Gln)
c.755C>A (p.Pro252Gln)
c.626C>A (p.Pro209Gln)
n.1415-274C>A
3g.132675331C>GCA354576281NPHP3-ACAD11,UBA5c.1067C>G (p.Pro356Arg)
c.896C>G (p.Pro299Arg)
c.728C>G (p.Pro243Arg)
n.2327C>G
c.*1980+6583G>C (n.*1980+6583G>C)
c.636+6583G>C
n.3995+6583G>C
c.560C>G (p.Pro187Arg)
c.755C>G (p.Pro252Arg)
c.626C>G (p.Pro209Arg)
n.1415-274C>G
3g.132675331C>TCA354576283NPHP3-ACAD11,UBA5c.1067C>T (p.Pro356Leu)
c.896C>T (p.Pro299Leu)
c.728C>T (p.Pro243Leu)
n.2327C>T
c.*1980+6583G>A (n.*1980+6583G>A)
c.636+6583G>A
n.3995+6583G>A
c.560C>T (p.Pro187Leu)
c.755C>T (p.Pro252Leu)
c.626C>T (p.Pro209Leu)
n.1415-274C>T
3g.132675332A=CA1402639551NPHP3-ACAD11,UBA5c.1068A= (p.Pro356=)
c.897A= (p.Pro299=)
c.729A= (p.Pro243=)
n.2328A=
c.*1980+6582T= (n.*1980+6582T=)
c.636+6582T=
n.3995+6582T=
c.561A= (p.Pro187=)
c.756A= (p.Pro252=)
c.627A= (p.Pro209=)
n.1415-273A=
3g.132675332A>CCA435799908NPHP3-ACAD11,UBA5c.1068A>C (p.Pro356=)
c.897A>C (p.Pro299=)
c.729A>C (p.Pro243=)
n.2328A>C
c.*1980+6582T>G (n.*1980+6582T>G)
c.636+6582T>G
n.3995+6582T>G
c.561A>C (p.Pro187=)
c.756A>C (p.Pro252=)
c.627A>C (p.Pro209=)
n.1415-273A>C
3g.132675332A>GCA435799909NPHP3-ACAD11,UBA5c.1068A>G (p.Pro356=)
c.897A>G (p.Pro299=)
c.729A>G (p.Pro243=)
n.2328A>G
c.*1980+6582T>C (n.*1980+6582T>C)
c.636+6582T>C
n.3995+6582T>C
c.561A>G (p.Pro187=)
c.756A>G (p.Pro252=)
c.627A>G (p.Pro209=)
n.1415-273A>G
3g.132675332A>TCA435799910NPHP3-ACAD11,UBA5c.1068A>T (p.Pro356=)
c.897A>T (p.Pro299=)
c.729A>T (p.Pro243=)
n.2328A>T
c.*1980+6582T>A (n.*1980+6582T>A)
c.636+6582T>A
n.3995+6582T>A
c.561A>T (p.Pro187=)
c.756A>T (p.Pro252=)
c.627A>T (p.Pro209=)
n.1415-273A>T
 dbSNP gnomAD v2 gnomAD v4
3g.132675333A>CCA354576287NPHP3-ACAD11,UBA5c.1069A>C (p.Asn357His)
c.898A>C (p.Asn300His)
c.730A>C (p.Asn244His)
n.2329A>C
c.*1980+6581T>G (n.*1980+6581T>G)
c.636+6581T>G
n.3995+6581T>G
c.562A>C (p.Asn188His)
c.757A>C (p.Asn253His)
c.628A>C (p.Asn210His)
n.1415-272A>C
3g.132675333A>GCA354576285NPHP3-ACAD11,UBA5c.1069A>G (p.Asn357Asp)
c.898A>G (p.Asn300Asp)
c.730A>G (p.Asn244Asp)
n.2329A>G
c.*1980+6581T>C (n.*1980+6581T>C)
c.636+6581T>C
n.3995+6581T>C
c.562A>G (p.Asn188Asp)
c.757A>G (p.Asn253Asp)
c.628A>G (p.Asn210Asp)
n.1415-272A>G
 gnomAD v4
3g.132675333A>TCA354576286NPHP3-ACAD11,UBA5c.1069A>T (p.Asn357Tyr)
c.898A>T (p.Asn300Tyr)
c.730A>T (p.Asn244Tyr)
n.2329A>T
c.*1980+6581T>A (n.*1980+6581T>A)
c.636+6581T>A
n.3995+6581T>A
c.562A>T (p.Asn188Tyr)
c.757A>T (p.Asn253Tyr)
c.628A>T (p.Asn210Tyr)
n.1415-272A>T
3g.132675334A>CCA354576288NPHP3-ACAD11,UBA5c.1070A>C (p.Asn357Thr)
c.899A>C (p.Asn300Thr)
c.731A>C (p.Asn244Thr)
n.2330A>C
c.*1980+6580T>G (n.*1980+6580T>G)
c.636+6580T>G
n.3995+6580T>G
c.563A>C (p.Asn188Thr)
c.758A>C (p.Asn253Thr)
c.629A>C (p.Asn210Thr)
n.1415-271A>C
3g.132675334A>GCA354576289NPHP3-ACAD11,UBA5c.1070A>G (p.Asn357Ser)
c.899A>G (p.Asn300Ser)
c.731A>G (p.Asn244Ser)
n.2330A>G
c.*1980+6580T>C (n.*1980+6580T>C)
c.636+6580T>C
n.3995+6580T>C
c.563A>G (p.Asn188Ser)
c.758A>G (p.Asn253Ser)
c.629A>G (p.Asn210Ser)
n.1415-271A>G
3g.132675334A>TCA354576291NPHP3-ACAD11,UBA5c.1070A>T (p.Asn357Ile)
c.899A>T (p.Asn300Ile)
c.731A>T (p.Asn244Ile)
n.2330A>T
c.*1980+6580T>A (n.*1980+6580T>A)
c.636+6580T>A
n.3995+6580T>A
c.563A>T (p.Asn188Ile)
c.758A>T (p.Asn253Ile)
c.629A>T (p.Asn210Ile)
n.1415-271A>T
3g.132675335T>ACA354576292NPHP3-ACAD11,UBA5c.1071T>A (p.Asn357Lys)
c.900T>A (p.Asn300Lys)
c.732T>A (p.Asn244Lys)
n.2331T>A
c.*1980+6579A>T (n.*1980+6579A>T)
c.636+6579A>T
n.3995+6579A>T
c.564T>A (p.Asn188Lys)
c.759T>A (p.Asn253Lys)
c.630T>A (p.Asn210Lys)
n.1415-270T>A
3g.132675335T>CCA435799911NPHP3-ACAD11,UBA5c.1071T>C (p.Asn357=)
c.900T>C (p.Asn300=)
c.732T>C (p.Asn244=)
n.2331T>C
c.*1980+6579A>G (n.*1980+6579A>G)
c.636+6579A>G
n.3995+6579A>G
c.564T>C (p.Asn188=)
c.759T>C (p.Asn253=)
c.630T>C (p.Asn210=)
n.1415-270T>C
3g.132675335T>GCA354576294NPHP3-ACAD11,UBA5c.1071T>G (p.Asn357Lys)
c.900T>G (p.Asn300Lys)
c.732T>G (p.Asn244Lys)
n.2331T>G
c.*1980+6579A>C (n.*1980+6579A>C)
c.636+6579A>C
n.3995+6579A>C
c.564T>G (p.Asn188Lys)
c.759T>G (p.Asn253Lys)
c.630T>G (p.Asn210Lys)
n.1415-270T>G
3g.132675336C>ACA354576296NPHP3-ACAD11,UBA5c.1072C>A (p.Pro358Thr)
c.901C>A (p.Pro301Thr)
c.733C>A (p.Pro245Thr)
n.2332C>A
c.*1980+6578G>T (n.*1980+6578G>T)
c.636+6578G>T
n.3995+6578G>T
c.565C>A (p.Pro189Thr)
c.760C>A (p.Pro254Thr)
c.631C>A (p.Pro211Thr)
n.1415-269C>A
3g.132675336C>GCA354576298NPHP3-ACAD11,UBA5c.1072C>G (p.Pro358Ala)
c.901C>G (p.Pro301Ala)
c.733C>G (p.Pro245Ala)
n.2332C>G
c.*1980+6578G>C (n.*1980+6578G>C)
c.636+6578G>C
n.3995+6578G>C
c.565C>G (p.Pro189Ala)
c.760C>G (p.Pro254Ala)
c.631C>G (p.Pro211Ala)
n.1415-269C>G
3g.132675336C>TCA354576300NPHP3-ACAD11,UBA5c.1072C>T (p.Pro358Ser)
c.901C>T (p.Pro301Ser)
c.733C>T (p.Pro245Ser)
n.2332C>T
c.*1980+6578G>A (n.*1980+6578G>A)
c.636+6578G>A
n.3995+6578G>A
c.565C>T (p.Pro189Ser)
c.760C>T (p.Pro254Ser)
c.631C>T (p.Pro211Ser)
n.1415-269C>T
3g.132675337C>ACA354576302NPHP3-ACAD11,UBA5c.1073C>A (p.Pro358His)
c.902C>A (p.Pro301His)
c.734C>A (p.Pro245His)
n.2333C>A
c.*1980+6577G>T (n.*1980+6577G>T)
c.636+6577G>T
n.3995+6577G>T
c.566C>A (p.Pro189His)
c.761C>A (p.Pro254His)
c.632C>A (p.Pro211His)
n.1415-268C>A
 dbSNP
3g.132675337C=CA1402639554NPHP3-ACAD11,UBA5c.1073C= (p.Pro358=)
c.902C= (p.Pro301=)
c.734C= (p.Pro245=)
n.2333C=
c.*1980+6577G= (n.*1980+6577G=)
c.636+6577G=
n.3995+6577G=
c.566C= (p.Pro189=)
c.761C= (p.Pro254=)
c.632C= (p.Pro211=)
n.1415-268C=
3g.132675337C>GCA354576304NPHP3-ACAD11,UBA5c.1073C>G (p.Pro358Arg)
c.902C>G (p.Pro301Arg)
c.734C>G (p.Pro245Arg)
n.2333C>G
c.*1980+6577G>C (n.*1980+6577G>C)
c.636+6577G>C
n.3995+6577G>C
c.566C>G (p.Pro189Arg)
c.761C>G (p.Pro254Arg)
c.632C>G (p.Pro211Arg)
n.1415-268C>G
3g.132675337C>TCA354576306NPHP3-ACAD11,UBA5c.1073C>T (p.Pro358Leu)
c.902C>T (p.Pro301Leu)
c.734C>T (p.Pro245Leu)
n.2333C>T
c.*1980+6577G>A (n.*1980+6577G>A)
c.636+6577G>A
n.3995+6577G>A
c.566C>T (p.Pro189Leu)
c.761C>T (p.Pro254Leu)
c.632C>T (p.Pro211Leu)
n.1415-268C>T
3g.132675338T>ACA435799912NPHP3-ACAD11,UBA5c.1074T>A (p.Pro358=)
c.903T>A (p.Pro301=)
c.735T>A (p.Pro245=)
n.2334T>A
c.*1980+6576A>T (n.*1980+6576A>T)
c.636+6576A>T
n.3995+6576A>T
c.567T>A (p.Pro189=)
c.762T>A (p.Pro254=)
c.633T>A (p.Pro211=)
n.1415-267T>A
3g.132675338T>CCA435799913NPHP3-ACAD11,UBA5c.1074T>C (p.Pro358=)
c.903T>C (p.Pro301=)
c.735T>C (p.Pro245=)
n.2334T>C
c.*1980+6576A>G (n.*1980+6576A>G)
c.636+6576A>G
n.3995+6576A>G
c.567T>C (p.Pro189=)
c.762T>C (p.Pro254=)
c.633T>C (p.Pro211=)
n.1415-267T>C
3g.132675338T>GCA435799914NPHP3-ACAD11,UBA5c.1074T>G (p.Pro358=)
c.903T>G (p.Pro301=)
c.735T>G (p.Pro245=)
n.2334T>G
c.*1980+6576A>C (n.*1980+6576A>C)
c.636+6576A>C
n.3995+6576A>C
c.567T>G (p.Pro189=)
c.762T>G (p.Pro254=)
c.633T>G (p.Pro211=)
n.1415-267T>G
3g.132675339C>ACA354576310NPHP3-ACAD11,UBA5c.1075C>A (p.Gln359Lys)
c.904C>A (p.Gln302Lys)
c.736C>A (p.Gln246Lys)
n.2335C>A
c.*1980+6575G>T (n.*1980+6575G>T)
c.636+6575G>T
n.3995+6575G>T
c.568C>A (p.Gln190Lys)
c.763C>A (p.Gln255Lys)
c.634C>A (p.Gln212Lys)
n.1415-266C>A
3g.132675339C=CA1402639557NPHP3-ACAD11,UBA5c.1075C= (p.Gln359=)
c.904C= (p.Gln302=)
c.736C= (p.Gln246=)
n.2335C=
c.*1980+6575G= (n.*1980+6575G=)
c.636+6575G=
n.3995+6575G=
c.568C= (p.Gln190=)
c.763C= (p.Gln255=)
c.634C= (p.Gln212=)
n.1415-266C=
3g.132675339C>GCA354576311NPHP3-ACAD11,UBA5c.1075C>G (p.Gln359Glu)
c.904C>G (p.Gln302Glu)
c.736C>G (p.Gln246Glu)
n.2335C>G
c.*1980+6575G>C (n.*1980+6575G>C)
c.636+6575G>C
n.3995+6575G>C
c.568C>G (p.Gln190Glu)
c.763C>G (p.Gln255Glu)
c.634C>G (p.Gln212Glu)
n.1415-266C>G
3g.132675339C>TCA10588807NPHP3-ACAD11,UBA5c.1075C>T (p.Gln359Ter)
c.904C>T (p.Gln302Ter)
c.736C>T (p.Gln246Ter)
n.2335C>T
c.*1980+6575G>A (n.*1980+6575G>A)
c.636+6575G>A
n.3995+6575G>A
c.568C>T (p.Gln190Ter)
c.763C>T (p.Gln255Ter)
c.634C>T (p.Gln212Ter)
n.1415-266C>T
 ClinVar dbSNP gnomAD v4
3g.132675340A>CCA354576317NPHP3-ACAD11,UBA5c.1076A>C (p.Gln359Pro)
c.905A>C (p.Gln302Pro)
c.737A>C (p.Gln246Pro)
n.2336A>C
c.*1980+6574T>G (n.*1980+6574T>G)
c.636+6574T>G
n.3995+6574T>G
c.569A>C (p.Gln190Pro)
c.764A>C (p.Gln255Pro)
c.635A>C (p.Gln212Pro)
n.1415-265A>C
3g.132675340A>GCA354576314NPHP3-ACAD11,UBA5c.1076A>G (p.Gln359Arg)
c.905A>G (p.Gln302Arg)
c.737A>G (p.Gln246Arg)
n.2336A>G
c.*1980+6574T>C (n.*1980+6574T>C)
c.636+6574T>C
n.3995+6574T>C
c.569A>G (p.Gln190Arg)
c.764A>G (p.Gln255Arg)
c.635A>G (p.Gln212Arg)
n.1415-265A>G
3g.132675340A>TCA354576316NPHP3-ACAD11,UBA5c.1076A>T (p.Gln359Leu)
c.905A>T (p.Gln302Leu)
c.737A>T (p.Gln246Leu)
n.2336A>T
c.*1980+6574T>A (n.*1980+6574T>A)
c.636+6574T>A
n.3995+6574T>A
c.569A>T (p.Gln190Leu)
c.764A>T (p.Gln255Leu)
c.635A>T (p.Gln212Leu)
n.1415-265A>T
3g.132675341G>ACA435799915NPHP3-ACAD11,UBA5c.1077G>A (p.Gln359=)
c.906G>A (p.Gln302=)
c.738G>A (p.Gln246=)
n.2337G>A
c.*1980+6573C>T (n.*1980+6573C>T)
c.636+6573C>T
n.3995+6573C>T
c.570G>A (p.Gln190=)
c.765G>A (p.Gln255=)
c.636G>A (p.Gln212=)
n.1415-264G>A
 dbSNP gnomAD v2 gnomAD v4
3g.132675341G>CCA354576318NPHP3-ACAD11,UBA5c.1077G>C (p.Gln359His)
c.906G>C (p.Gln302His)
c.738G>C (p.Gln246His)
n.2337G>C
c.*1980+6573C>G (n.*1980+6573C>G)
c.636+6573C>G
n.3995+6573C>G
c.570G>C (p.Gln190His)
c.765G>C (p.Gln255His)
c.636G>C (p.Gln212His)
n.1415-264G>C
 gnomAD v4
3g.132675341G=CA1402639560NPHP3-ACAD11,UBA5c.1077G= (p.Gln359=)
c.906G= (p.Gln302=)
c.738G= (p.Gln246=)
n.2337G=
c.*1980+6573C= (n.*1980+6573C=)
c.636+6573C=
n.3995+6573C=
c.570G= (p.Gln190=)
c.765G= (p.Gln255=)
c.636G= (p.Gln212=)
n.1415-264G=
3g.132675341G>TCA354576320NPHP3-ACAD11,UBA5c.1077G>T (p.Gln359His)
c.906G>T (p.Gln302His)
c.738G>T (p.Gln246His)
n.2337G>T
c.*1980+6573C>A (n.*1980+6573C>A)
c.636+6573C>A
n.3995+6573C>A
c.570G>T (p.Gln190His)
c.765G>T (p.Gln255His)
c.636G>T (p.Gln212His)
n.1415-264G>T
3g.132675344_132675345delCA2667734500NPHP3-ACAD11,UBA5c.1080_1081del (p.Cys360Ter)
c.909_910del (p.Cys303Ter)
c.741_742del (p.Cys247Ter)
n.2340_2341del
c.*1980+6572_*1980+6573del (n.*1980+6572_*1980+6573del)
c.636+6572_636+6573del
n.3995+6572_3995+6573del
c.573_574del (p.Cys191Ter)
c.768_769del (p.Cys256Ter)
c.639_640del (p.Cys213Ter)
n.1415-261_1415-260del
 gnomAD v4
3g.132675342T>ACA354576322NPHP3-ACAD11,UBA5c.1078T>A (p.Cys360Ser)
c.907T>A (p.Cys303Ser)
c.739T>A (p.Cys247Ser)
n.2338T>A
c.*1980+6572A>T (n.*1980+6572A>T)
c.636+6572A>T
n.3995+6572A>T
c.571T>A (p.Cys191Ser)
c.766T>A (p.Cys256Ser)
c.637T>A (p.Cys213Ser)
n.1415-263T>A
 gnomAD v4
3g.132675342T>CCA354576324NPHP3-ACAD11,UBA5c.1078T>C (p.Cys360Arg)
c.907T>C (p.Cys303Arg)
c.739T>C (p.Cys247Arg)
n.2338T>C
c.*1980+6572A>G (n.*1980+6572A>G)
c.636+6572A>G
n.3995+6572A>G
c.571T>C (p.Cys191Arg)
c.766T>C (p.Cys256Arg)
c.637T>C (p.Cys213Arg)
n.1415-263T>C
 ClinVar dbSNP gnomAD v4
3g.132675342T>GCA354576326NPHP3-ACAD11,UBA5c.1078T>G (p.Cys360Gly)
c.907T>G (p.Cys303Gly)
c.739T>G (p.Cys247Gly)
n.2338T>G
c.*1980+6572A>C (n.*1980+6572A>C)
c.636+6572A>C
n.3995+6572A>C
c.571T>G (p.Cys191Gly)
c.766T>G (p.Cys256Gly)
c.637T>G (p.Cys213Gly)
n.1415-263T>G
3g.132675342T=CA1402639565NPHP3-ACAD11,UBA5c.1078T= (p.Cys360=)
c.907T= (p.Cys303=)
c.739T= (p.Cys247=)
n.2338T=
c.*1980+6572A= (n.*1980+6572A=)
c.636+6572A=
n.3995+6572A=
c.571T= (p.Cys191=)
c.766T= (p.Cys256=)
c.637T= (p.Cys213=)
n.1415-263T=
3g.132675343G>ACA354576328NPHP3-ACAD11,UBA5c.1079G>A (p.Cys360Tyr)
c.908G>A (p.Cys303Tyr)
c.740G>A (p.Cys247Tyr)
n.2339G>A
c.*1980+6571C>T (n.*1980+6571C>T)
c.636+6571C>T
n.3995+6571C>T
c.572G>A (p.Cys191Tyr)
c.767G>A (p.Cys256Tyr)
c.638G>A (p.Cys213Tyr)
n.1415-262G>A
3g.132675343G>CCA354576330NPHP3-ACAD11,UBA5c.1079G>C (p.Cys360Ser)
c.908G>C (p.Cys303Ser)
c.740G>C (p.Cys247Ser)
n.2339G>C
c.*1980+6571C>G (n.*1980+6571C>G)
c.636+6571C>G
n.3995+6571C>G
c.572G>C (p.Cys191Ser)
c.767G>C (p.Cys256Ser)
c.638G>C (p.Cys213Ser)
n.1415-262G>C
3g.132675343G>TCA354576331NPHP3-ACAD11,UBA5c.1079G>T (p.Cys360Phe)
c.908G>T (p.Cys303Phe)
c.740G>T (p.Cys247Phe)
n.2339G>T
c.*1980+6571C>A (n.*1980+6571C>A)
c.636+6571C>A
n.3995+6571C>A
c.572G>T (p.Cys191Phe)
c.767G>T (p.Cys256Phe)
c.638G>T (p.Cys213Phe)
n.1415-262G>T
3g.132675344T>ACA354576333NPHP3-ACAD11,UBA5c.1080T>A (p.Cys360Ter)
c.909T>A (p.Cys303Ter)
c.741T>A (p.Cys247Ter)
n.2340T>A
c.*1980+6570A>T (n.*1980+6570A>T)
c.636+6570A>T
n.3995+6570A>T
c.573T>A (p.Cys191Ter)
c.768T>A (p.Cys256Ter)
c.639T>A (p.Cys213Ter)
n.1415-261T>A
3g.132675344T>CCA435799916NPHP3-ACAD11,UBA5c.1080T>C (p.Cys360=)
c.909T>C (p.Cys303=)
c.741T>C (p.Cys247=)
n.2340T>C
c.*1980+6570A>G (n.*1980+6570A>G)
c.636+6570A>G
n.3995+6570A>G
c.573T>C (p.Cys191=)
c.768T>C (p.Cys256=)
c.639T>C (p.Cys213=)
n.1415-261T>C
3g.132675344T>GCA354576335NPHP3-ACAD11,UBA5c.1080T>G (p.Cys360Trp)
c.909T>G (p.Cys303Trp)
c.741T>G (p.Cys247Trp)
n.2340T>G
c.*1980+6570A>C (n.*1980+6570A>C)
c.636+6570A>C
n.3995+6570A>C
c.573T>G (p.Cys191Trp)
c.768T>G (p.Cys256Trp)
c.639T>G (p.Cys213Trp)
n.1415-261T>G
3g.132675345G>ACA2621478NPHP3-ACAD11,UBA5c.1081G>A (p.Asp361Asn)
c.910G>A (p.Asp304Asn)
c.742G>A (p.Asp248Asn)
n.2341G>A
c.*1980+6569C>T (n.*1980+6569C>T)
c.636+6569C>T
n.3995+6569C>T
c.574G>A (p.Asp192Asn)
c.769G>A (p.Asp257Asn)
c.640G>A (p.Asp214Asn)
n.1415-260G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.132675345G>CCA354576339NPHP3-ACAD11,UBA5c.1081G>C (p.Asp361His)
c.910G>C (p.Asp304His)
c.742G>C (p.Asp248His)
n.2341G>C
c.*1980+6569C>G (n.*1980+6569C>G)
c.636+6569C>G
n.3995+6569C>G
c.574G>C (p.Asp192His)
c.769G>C (p.Asp257His)
c.640G>C (p.Asp214His)
n.1415-260G>C
3g.132675345G=CA1402639570NPHP3-ACAD11,UBA5c.1081G= (p.Asp361=)
c.910G= (p.Asp304=)
c.742G= (p.Asp248=)
n.2341G=
c.*1980+6569C= (n.*1980+6569C=)
c.636+6569C=
n.3995+6569C=
c.574G= (p.Asp192=)
c.769G= (p.Asp257=)
c.640G= (p.Asp214=)
n.1415-260G=
3g.132675345G>TCA354576337NPHP3-ACAD11,UBA5c.1081G>T (p.Asp361Tyr)
c.910G>T (p.Asp304Tyr)
c.742G>T (p.Asp248Tyr)
n.2341G>T
c.*1980+6569C>A (n.*1980+6569C>A)
c.636+6569C>A
n.3995+6569C>A
c.574G>T (p.Asp192Tyr)
c.769G>T (p.Asp257Tyr)
c.640G>T (p.Asp214Tyr)
n.1415-260G>T
3g.132675346A>CCA354576341NPHP3-ACAD11,UBA5c.1082A>C (p.Asp361Ala)
c.911A>C (p.Asp304Ala)
c.743A>C (p.Asp248Ala)
n.2342A>C
c.*1980+6568T>G (n.*1980+6568T>G)
c.636+6568T>G
n.3995+6568T>G
c.575A>C (p.Asp192Ala)
c.770A>C (p.Asp257Ala)
c.641A>C (p.Asp214Ala)
n.1415-259A>C
3g.132675346A>GCA354576342NPHP3-ACAD11,UBA5c.1082A>G (p.Asp361Gly)
c.911A>G (p.Asp304Gly)
c.743A>G (p.Asp248Gly)
n.2342A>G
c.*1980+6568T>C (n.*1980+6568T>C)
c.636+6568T>C
n.3995+6568T>C
c.575A>G (p.Asp192Gly)
c.770A>G (p.Asp257Gly)
c.641A>G (p.Asp214Gly)
n.1415-259A>G
 gnomAD v4
3g.132675346A>TCA354576344NPHP3-ACAD11,UBA5c.1082A>T (p.Asp361Val)
c.911A>T (p.Asp304Val)
c.743A>T (p.Asp248Val)
n.2342A>T
c.*1980+6568T>A (n.*1980+6568T>A)
c.636+6568T>A
n.3995+6568T>A
c.575A>T (p.Asp192Val)
c.770A>T (p.Asp257Val)
c.641A>T (p.Asp214Val)
n.1415-259A>T
 gnomAD v4
3g.132675347T>ACA354576346NPHP3-ACAD11,UBA5c.1083T>A (p.Asp361Glu)
c.912T>A (p.Asp304Glu)
c.744T>A (p.Asp248Glu)
n.2343T>A
c.*1980+6567A>T (n.*1980+6567A>T)
c.636+6567A>T
n.3995+6567A>T
c.576T>A (p.Asp192Glu)
c.771T>A (p.Asp257Glu)
c.642T>A (p.Asp214Glu)
n.1415-258T>A
3g.132675347T>CCA435799917NPHP3-ACAD11,UBA5c.1083T>C (p.Asp361=)
c.912T>C (p.Asp304=)
c.744T>C (p.Asp248=)
n.2343T>C
c.*1980+6567A>G (n.*1980+6567A>G)
c.636+6567A>G
n.3995+6567A>G
c.576T>C (p.Asp192=)
c.771T>C (p.Asp257=)
c.642T>C (p.Asp214=)
n.1415-258T>C
3g.132675347T>GCA354576348NPHP3-ACAD11,UBA5c.1083T>G (p.Asp361Glu)
c.912T>G (p.Asp304Glu)
c.744T>G (p.Asp248Glu)
n.2343T>G
c.*1980+6567A>C (n.*1980+6567A>C)
c.636+6567A>C
n.3995+6567A>C
c.576T>G (p.Asp192Glu)
c.771T>G (p.Asp257Glu)
c.642T>G (p.Asp214Glu)
n.1415-258T>G
3g.132675348G>ACA2621479NPHP3-ACAD11,UBA5c.1084G>A (p.Asp362Asn)
c.913G>A (p.Asp305Asn)
c.745G>A (p.Asp249Asn)
n.2344G>A
c.*1980+6566C>T (n.*1980+6566C>T)
c.636+6566C>T
n.3995+6566C>T
c.577G>A (p.Asp193Asn)
c.772G>A (p.Asp258Asn)
c.643G>A (p.Asp215Asn)
n.1415-257G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.132675348G>CCA354576351NPHP3-ACAD11,UBA5c.1084G>C (p.Asp362His)
c.913G>C (p.Asp305His)
c.745G>C (p.Asp249His)
n.2344G>C
c.*1980+6566C>G (n.*1980+6566C>G)
c.636+6566C>G
n.3995+6566C>G
c.577G>C (p.Asp193His)
c.772G>C (p.Asp258His)
c.643G>C (p.Asp215His)
n.1415-257G>C
 dbSNP gnomAD v2 gnomAD v4
3g.132675348G=CA1402639577NPHP3-ACAD11,UBA5c.1084G= (p.Asp362=)
c.913G= (p.Asp305=)
c.745G= (p.Asp249=)
n.2344G=
c.*1980+6566C= (n.*1980+6566C=)
c.636+6566C=
n.3995+6566C=
c.577G= (p.Asp193=)
c.772G= (p.Asp258=)
c.643G= (p.Asp215=)
n.1415-257G=
3g.132675348G>TCA354576353NPHP3-ACAD11,UBA5c.1084G>T (p.Asp362Tyr)
c.913G>T (p.Asp305Tyr)
c.745G>T (p.Asp249Tyr)
n.2344G>T
c.*1980+6566C>A (n.*1980+6566C>A)
c.636+6566C>A
n.3995+6566C>A
c.577G>T (p.Asp193Tyr)
c.772G>T (p.Asp258Tyr)
c.643G>T (p.Asp215Tyr)
n.1415-257G>T
3g.132675349A>CCA354576356NPHP3-ACAD11,UBA5c.1085A>C (p.Asp362Ala)
c.914A>C (p.Asp305Ala)
c.746A>C (p.Asp249Ala)
n.2345A>C
c.*1980+6565T>G (n.*1980+6565T>G)
c.636+6565T>G
n.3995+6565T>G
c.578A>C (p.Asp193Ala)
c.773A>C (p.Asp258Ala)
c.644A>C (p.Asp215Ala)
n.1415-256A>C
3g.132675349A>GCA354576358NPHP3-ACAD11,UBA5c.1085A>G (p.Asp362Gly)
c.914A>G (p.Asp305Gly)
c.746A>G (p.Asp249Gly)
n.2345A>G
c.*1980+6565T>C (n.*1980+6565T>C)
c.636+6565T>C
n.3995+6565T>C
c.578A>G (p.Asp193Gly)
c.773A>G (p.Asp258Gly)
c.644A>G (p.Asp215Gly)
n.1415-256A>G
3g.132675349A>TCA354576360NPHP3-ACAD11,UBA5c.1085A>T (p.Asp362Val)
c.914A>T (p.Asp305Val)
c.746A>T (p.Asp249Val)
n.2345A>T
c.*1980+6565T>A (n.*1980+6565T>A)
c.636+6565T>A
n.3995+6565T>A
c.578A>T (p.Asp193Val)
c.773A>T (p.Asp258Val)
c.644A>T (p.Asp215Val)
n.1415-256A>T
3g.132675350C>ACA354576362NPHP3-ACAD11,UBA5c.1086C>A (p.Asp362Glu)
c.915C>A (p.Asp305Glu)
c.747C>A (p.Asp249Glu)
n.2346C>A
c.*1980+6564G>T (n.*1980+6564G>T)
c.636+6564G>T
n.3995+6564G>T
c.579C>A (p.Asp193Glu)
c.774C>A (p.Asp258Glu)
c.645C>A (p.Asp215Glu)
n.1415-255C>A
 gnomAD v4
3g.132675350C>GCA354576364NPHP3-ACAD11,UBA5c.1086C>G (p.Asp362Glu)
c.915C>G (p.Asp305Glu)
c.747C>G (p.Asp249Glu)
n.2346C>G
c.*1980+6564G>C (n.*1980+6564G>C)
c.636+6564G>C
n.3995+6564G>C
c.579C>G (p.Asp193Glu)
c.774C>G (p.Asp258Glu)
c.645C>G (p.Asp215Glu)
n.1415-255C>G
3g.132675350C>TCA435799918NPHP3-ACAD11,UBA5c.1086C>T (p.Asp362=)
c.915C>T (p.Asp305=)
c.747C>T (p.Asp249=)
n.2346C>T
c.*1980+6564G>A (n.*1980+6564G>A)
c.636+6564G>A
n.3995+6564G>A
c.579C>T (p.Asp193=)
c.774C>T (p.Asp258=)
c.645C>T (p.Asp215=)
n.1415-255C>T
 gnomAD v4
3g.132675351A=CA1402639582NPHP3-ACAD11,UBA5c.1087A= (p.Arg363=)
c.916A= (p.Arg306=)
c.748A= (p.Arg250=)
n.2347A=
c.*1980+6563T= (n.*1980+6563T=)
c.636+6563T=
n.3995+6563T=
c.580A= (p.Arg194=)
c.775A= (p.Arg259=)
c.646A= (p.Arg216=)
n.1415-254A=
3g.132675351A>CCA435799919NPHP3-ACAD11,UBA5c.1087A>C (p.Arg363=)
c.916A>C (p.Arg306=)
c.748A>C (p.Arg250=)
n.2347A>C
c.*1980+6563T>G (n.*1980+6563T>G)
c.636+6563T>G
n.3995+6563T>G
c.580A>C (p.Arg194=)
c.775A>C (p.Arg259=)
c.646A>C (p.Arg216=)
n.1415-254A>C
3g.132675351A>GCA354576366NPHP3-ACAD11,UBA5c.1087A>G (p.Arg363Gly)
c.916A>G (p.Arg306Gly)
c.748A>G (p.Arg250Gly)
n.2347A>G
c.*1980+6563T>C (n.*1980+6563T>C)
c.636+6563T>C
n.3995+6563T>C
c.580A>G (p.Arg194Gly)
c.775A>G (p.Arg259Gly)
c.646A>G (p.Arg216Gly)
n.1415-254A>G
 dbSNP gnomAD v2 gnomAD v4
3g.132675351A>TCA354576368NPHP3-ACAD11,UBA5c.1087A>T (p.Arg363Ter)
c.916A>T (p.Arg306Ter)
c.748A>T (p.Arg250Ter)
n.2347A>T
c.*1980+6563T>A (n.*1980+6563T>A)
c.636+6563T>A
n.3995+6563T>A
c.580A>T (p.Arg194Ter)
c.775A>T (p.Arg259Ter)
c.646A>T (p.Arg216Ter)
n.1415-254A>T
3g.132675352G>ACA354576370NPHP3-ACAD11,UBA5c.1088G>A (p.Arg363Lys)
c.917G>A (p.Arg306Lys)
c.749G>A (p.Arg250Lys)
n.2348G>A
c.*1980+6562C>T (n.*1980+6562C>T)
c.636+6562C>T
n.3995+6562C>T
c.581G>A (p.Arg194Lys)
c.776G>A (p.Arg259Lys)
c.647G>A (p.Arg216Lys)
n.1415-253G>A
 gnomAD v4
3g.132675352G>CCA354576372NPHP3-ACAD11,UBA5c.1088G>C (p.Arg363Thr)
c.917G>C (p.Arg306Thr)
c.749G>C (p.Arg250Thr)
n.2348G>C
c.*1980+6562C>G (n.*1980+6562C>G)
c.636+6562C>G
n.3995+6562C>G
c.581G>C (p.Arg194Thr)
c.776G>C (p.Arg259Thr)
c.647G>C (p.Arg216Thr)
n.1415-253G>C
3g.132675352G>TCA354576374NPHP3-ACAD11,UBA5c.1088G>T (p.Arg363Ile)
c.917G>T (p.Arg306Ile)
c.749G>T (p.Arg250Ile)
n.2348G>T
c.*1980+6562C>A (n.*1980+6562C>A)
c.636+6562C>A
n.3995+6562C>A
c.581G>T (p.Arg194Ile)
c.776G>T (p.Arg259Ile)
c.647G>T (p.Arg216Ile)
n.1415-253G>T
3g.132675353A>CCA354576376NPHP3-ACAD11,UBA5c.1089A>C (p.Arg363Ser)
c.918A>C (p.Arg306Ser)
c.750A>C (p.Arg250Ser)
n.2349A>C
c.*1980+6561T>G (n.*1980+6561T>G)
c.636+6561T>G
n.3995+6561T>G
c.582A>C (p.Arg194Ser)
c.777A>C (p.Arg259Ser)
c.648A>C (p.Arg216Ser)
n.1415-252A>C
3g.132675353A>GCA435799920NPHP3-ACAD11,UBA5c.1089A>G (p.Arg363=)
c.918A>G (p.Arg306=)
c.750A>G (p.Arg250=)
n.2349A>G
c.*1980+6561T>C (n.*1980+6561T>C)
c.636+6561T>C
n.3995+6561T>C
c.582A>G (p.Arg194=)
c.777A>G (p.Arg259=)
c.648A>G (p.Arg216=)
n.1415-252A>G
3g.132675353A>TCA354576377NPHP3-ACAD11,UBA5c.1089A>T (p.Arg363Ser)
c.918A>T (p.Arg306Ser)
c.750A>T (p.Arg250Ser)
n.2349A>T
c.*1980+6561T>A (n.*1980+6561T>A)
c.636+6561T>A
n.3995+6561T>A
c.582A>T (p.Arg194Ser)
c.777A>T (p.Arg259Ser)
c.648A>T (p.Arg216Ser)
n.1415-252A>T
3g.132675354A>CCA354576380NPHP3-ACAD11,UBA5c.1090A>C (p.Asn364His)
c.919A>C (p.Asn307His)
c.751A>C (p.Asn251His)
n.2350A>C
c.*1980+6560T>G (n.*1980+6560T>G)
c.636+6560T>G
n.3995+6560T>G
c.583A>C (p.Asn195His)
c.778A>C (p.Asn260His)
c.649A>C (p.Asn217His)
n.1415-251A>C
3g.132675354A>GCA354576382NPHP3-ACAD11,UBA5c.1090A>G (p.Asn364Asp)
c.919A>G (p.Asn307Asp)
c.751A>G (p.Asn251Asp)
n.2350A>G
c.*1980+6560T>C (n.*1980+6560T>C)
c.636+6560T>C
n.3995+6560T>C
c.583A>G (p.Asn195Asp)
c.778A>G (p.Asn260Asp)
c.649A>G (p.Asn217Asp)
n.1415-251A>G
 gnomAD v4
3g.132675354A>TCA354576383NPHP3-ACAD11,UBA5c.1090A>T (p.Asn364Tyr)
c.919A>T (p.Asn307Tyr)
c.751A>T (p.Asn251Tyr)
n.2350A>T
c.*1980+6560T>A (n.*1980+6560T>A)
c.636+6560T>A
n.3995+6560T>A
c.583A>T (p.Asn195Tyr)
c.778A>T (p.Asn260Tyr)
c.649A>T (p.Asn217Tyr)
n.1415-251A>T
3g.132675355A>CCA354576387NPHP3-ACAD11,UBA5c.1091A>C (p.Asn364Thr)
c.920A>C (p.Asn307Thr)
c.752A>C (p.Asn251Thr)
n.2351A>C
c.*1980+6559T>G (n.*1980+6559T>G)
c.636+6559T>G
n.3995+6559T>G
c.584A>C (p.Asn195Thr)
c.779A>C (p.Asn260Thr)
c.650A>C (p.Asn217Thr)
n.1415-250A>C
3g.132675355A>GCA354576388NPHP3-ACAD11,UBA5c.1091A>G (p.Asn364Ser)
c.920A>G (p.Asn307Ser)
c.752A>G (p.Asn251Ser)
n.2351A>G
c.*1980+6559T>C (n.*1980+6559T>C)
c.636+6559T>C
n.3995+6559T>C
c.584A>G (p.Asn195Ser)
c.779A>G (p.Asn260Ser)
c.650A>G (p.Asn217Ser)
n.1415-250A>G
3g.132675355A>TCA354576390NPHP3-ACAD11,UBA5c.1091A>T (p.Asn364Ile)
c.920A>T (p.Asn307Ile)
c.752A>T (p.Asn251Ile)
n.2351A>T
c.*1980+6559T>A (n.*1980+6559T>A)
c.636+6559T>A
n.3995+6559T>A
c.584A>T (p.Asn195Ile)
c.779A>T (p.Asn260Ile)
c.650A>T (p.Asn217Ile)
n.1415-250A>T
3g.132675356T>ACA354576392NPHP3-ACAD11,UBA5c.1092T>A (p.Asn364Lys)
c.921T>A (p.Asn307Lys)
c.753T>A (p.Asn251Lys)
n.2352T>A
c.*1980+6558A>T (n.*1980+6558A>T)
c.636+6558A>T
n.3995+6558A>T
c.585T>A (p.Asn195Lys)
c.780T>A (p.Asn260Lys)
c.651T>A (p.Asn217Lys)
n.1415-249T>A
3g.132675356T>CCA435799922NPHP3-ACAD11,UBA5c.1092T>C (p.Asn364=)
c.921T>C (p.Asn307=)
c.753T>C (p.Asn251=)
n.2352T>C
c.*1980+6558A>G (n.*1980+6558A>G)
c.636+6558A>G
n.3995+6558A>G
c.585T>C (p.Asn195=)
c.780T>C (p.Asn260=)
c.651T>C (p.Asn217=)
n.1415-249T>C
3g.132675356T>GCA354576393NPHP3-ACAD11,UBA5c.1092T>G (p.Asn364Lys)
c.921T>G (p.Asn307Lys)
c.753T>G (p.Asn251Lys)
n.2352T>G
c.*1980+6558A>C (n.*1980+6558A>C)
c.636+6558A>C
n.3995+6558A>C
c.585T>G (p.Asn195Lys)
c.780T>G (p.Asn260Lys)
c.651T>G (p.Asn217Lys)
n.1415-249T>G
3g.132675357T>ACA354576399NPHP3-ACAD11,UBA5c.1093T>A (p.Cys365Ser)
c.922T>A (p.Cys308Ser)
c.754T>A (p.Cys252Ser)
n.2353T>A
c.*1980+6557A>T (n.*1980+6557A>T)
c.636+6557A>T
n.3995+6557A>T
c.586T>A (p.Cys196Ser)
c.781T>A (p.Cys261Ser)
c.652T>A (p.Cys218Ser)
n.1415-248T>A
3g.132675357T>CCA354576396NPHP3-ACAD11,UBA5c.1093T>C (p.Cys365Arg)
c.922T>C (p.Cys308Arg)
c.754T>C (p.Cys252Arg)
n.2353T>C
c.*1980+6557A>G (n.*1980+6557A>G)
c.636+6557A>G
n.3995+6557A>G
c.586T>C (p.Cys196Arg)
c.781T>C (p.Cys261Arg)
c.652T>C (p.Cys218Arg)
n.1415-248T>C
3g.132675357T>GCA354576397NPHP3-ACAD11,UBA5c.1093T>G (p.Cys365Gly)
c.922T>G (p.Cys308Gly)
c.754T>G (p.Cys252Gly)
n.2353T>G
c.*1980+6557A>C (n.*1980+6557A>C)
c.636+6557A>C
n.3995+6557A>C
c.586T>G (p.Cys196Gly)
c.781T>G (p.Cys261Gly)
c.652T>G (p.Cys218Gly)
n.1415-248T>G
3g.132675358G>ACA354576401NPHP3-ACAD11,UBA5c.1094G>A (p.Cys365Tyr)
c.923G>A (p.Cys308Tyr)
c.755G>A (p.Cys252Tyr)
n.2354G>A
c.*1980+6556C>T (n.*1980+6556C>T)
c.636+6556C>T
n.3995+6556C>T
c.587G>A (p.Cys196Tyr)
c.782G>A (p.Cys261Tyr)
c.653G>A (p.Cys218Tyr)
n.1415-247G>A
3g.132675358G>CCA354576403NPHP3-ACAD11,UBA5c.1094G>C (p.Cys365Ser)
c.923G>C (p.Cys308Ser)
c.755G>C (p.Cys252Ser)
n.2354G>C
c.*1980+6556C>G (n.*1980+6556C>G)
c.636+6556C>G
n.3995+6556C>G
c.587G>C (p.Cys196Ser)
c.782G>C (p.Cys261Ser)
c.653G>C (p.Cys218Ser)
n.1415-247G>C
3g.132675358G>TCA354576405NPHP3-ACAD11,UBA5c.1094G>T (p.Cys365Phe)
c.923G>T (p.Cys308Phe)
c.755G>T (p.Cys252Phe)
n.2354G>T
c.*1980+6556C>A (n.*1980+6556C>A)
c.636+6556C>A
n.3995+6556C>A
c.587G>T (p.Cys196Phe)
c.782G>T (p.Cys261Phe)
c.653G>T (p.Cys218Phe)
n.1415-247G>T
3g.132675359C>ACA354576407NPHP3-ACAD11,UBA5c.1095C>A (p.Cys365Ter)
c.924C>A (p.Cys308Ter)
c.756C>A (p.Cys252Ter)
n.2355C>A
c.*1980+6555G>T (n.*1980+6555G>T)
c.636+6555G>T
n.3995+6555G>T
c.588C>A (p.Cys196Ter)
c.783C>A (p.Cys261Ter)
c.654C>A (p.Cys218Ter)
n.1415-246C>A
3g.132675359C>GCA354576408NPHP3-ACAD11,UBA5c.1095C>G (p.Cys365Trp)
c.924C>G (p.Cys308Trp)
c.756C>G (p.Cys252Trp)
n.2355C>G
c.*1980+6555G>C (n.*1980+6555G>C)
c.636+6555G>C
n.3995+6555G>C
c.588C>G (p.Cys196Trp)
c.783C>G (p.Cys261Trp)
c.654C>G (p.Cys218Trp)
n.1415-246C>G
3g.132675359C>TCA435799923NPHP3-ACAD11,UBA5c.1095C>T (p.Cys365=)
c.924C>T (p.Cys308=)
c.756C>T (p.Cys252=)
n.2355C>T
c.*1980+6555G>A (n.*1980+6555G>A)
c.636+6555G>A
n.3995+6555G>A
c.588C>T (p.Cys196=)
c.783C>T (p.Cys261=)
c.654C>T (p.Cys218=)
n.1415-246C>T
3g.132675360A>CCA435799924NPHP3-ACAD11,UBA5c.1096A>C (p.Arg366=)
c.925A>C (p.Arg309=)
c.757A>C (p.Arg253=)
n.2356A>C
c.*1980+6554T>G (n.*1980+6554T>G)
c.636+6554T>G
n.3995+6554T>G
c.589A>C (p.Arg197=)
c.784A>C (p.Arg262=)
c.655A>C (p.Arg219=)
n.1415-245A>C
3g.132675360A>GCA354576411NPHP3-ACAD11,UBA5c.1096A>G (p.Arg366Gly)
c.925A>G (p.Arg309Gly)
c.757A>G (p.Arg253Gly)
n.2356A>G
c.*1980+6554T>C (n.*1980+6554T>C)
c.636+6554T>C
n.3995+6554T>C
c.589A>G (p.Arg197Gly)
c.784A>G (p.Arg262Gly)
c.655A>G (p.Arg219Gly)
n.1415-245A>G
 gnomAD v4
3g.132675360A>TCA354576413NPHP3-ACAD11,UBA5c.1096A>T (p.Arg366Trp)
c.925A>T (p.Arg309Trp)
c.757A>T (p.Arg253Trp)
n.2356A>T
c.*1980+6554T>A (n.*1980+6554T>A)
c.636+6554T>A
n.3995+6554T>A
c.589A>T (p.Arg197Trp)
c.784A>T (p.Arg262Trp)
c.655A>T (p.Arg219Trp)
n.1415-245A>T
3g.132675361G>ACA354576415NPHP3-ACAD11,UBA5c.1097G>A (p.Arg366Lys)
c.926G>A (p.Arg309Lys)
c.758G>A (p.Arg253Lys)
n.2357G>A
c.*1980+6553C>T (n.*1980+6553C>T)
c.636+6553C>T
n.3995+6553C>T
c.590G>A (p.Arg197Lys)
c.785G>A (p.Arg262Lys)
c.656G>A (p.Arg219Lys)
n.1415-244G>A
3g.132675361G>CCA354576417NPHP3-ACAD11,UBA5c.1097G>C (p.Arg366Thr)
c.926G>C (p.Arg309Thr)
c.758G>C (p.Arg253Thr)
n.2357G>C
c.*1980+6553C>G (n.*1980+6553C>G)
c.636+6553C>G
n.3995+6553C>G
c.590G>C (p.Arg197Thr)
c.785G>C (p.Arg262Thr)
c.656G>C (p.Arg219Thr)
n.1415-244G>C
3g.132675361G>TCA354576419NPHP3-ACAD11,UBA5c.1097G>T (p.Arg366Met)
c.926G>T (p.Arg309Met)
c.758G>T (p.Arg253Met)
n.2357G>T
c.*1980+6553C>A (n.*1980+6553C>A)
c.636+6553C>A
n.3995+6553C>A
c.590G>T (p.Arg197Met)
c.785G>T (p.Arg262Met)
c.656G>T (p.Arg219Met)
n.1415-244G>T
3g.132675362G>ACA435799925NPHP3-ACAD11,UBA5c.1098G>A (p.Arg366=)
c.927G>A (p.Arg309=)
c.759G>A (p.Arg253=)
n.2358G>A
c.*1980+6552C>T (n.*1980+6552C>T)
c.636+6552C>T
n.3995+6552C>T
c.591G>A (p.Arg197=)
c.786G>A (p.Arg262=)
c.657G>A (p.Arg219=)
n.1415-243G>A
3g.132675362G>CCA354576421NPHP3-ACAD11,UBA5c.1098G>C (p.Arg366Ser)
c.927G>C (p.Arg309Ser)
c.759G>C (p.Arg253Ser)
n.2358G>C
c.*1980+6552C>G (n.*1980+6552C>G)
c.636+6552C>G
n.3995+6552C>G
c.591G>C (p.Arg197Ser)
c.786G>C (p.Arg262Ser)
c.657G>C (p.Arg219Ser)
n.1415-243G>C
3g.132675362G>TCA354576423NPHP3-ACAD11,UBA5c.1098G>T (p.Arg366Ser)
c.927G>T (p.Arg309Ser)
c.759G>T (p.Arg253Ser)
n.2358G>T
c.*1980+6552C>A (n.*1980+6552C>A)
c.636+6552C>A
n.3995+6552C>A
c.591G>T (p.Arg197Ser)
c.786G>T (p.Arg262Ser)
c.657G>T (p.Arg219Ser)
n.1415-243G>T
3g.132675363A=CA1402639586NPHP3-ACAD11,UBA5c.1099A= (p.Lys367=)
c.928A= (p.Lys310=)
c.760A= (p.Lys254=)
n.2359A=
c.*1980+6551T= (n.*1980+6551T=)
c.636+6551T=
n.3995+6551T=
c.592A= (p.Lys198=)
c.787A= (p.Lys263=)
c.658A= (p.Lys220=)
n.1415-242A=
3g.132675363A>CCA354576427NPHP3-ACAD11,UBA5c.1099A>C (p.Lys367Gln)
c.928A>C (p.Lys310Gln)
c.760A>C (p.Lys254Gln)
n.2359A>C
c.*1980+6551T>G (n.*1980+6551T>G)
c.636+6551T>G
n.3995+6551T>G
c.592A>C (p.Lys198Gln)
c.787A>C (p.Lys263Gln)
c.658A>C (p.Lys220Gln)
n.1415-242A>C
3g.132675363A>GCA10588812NPHP3-ACAD11,UBA5c.1099A>G (p.Lys367Glu)
c.928A>G (p.Lys310Glu)
c.760A>G (p.Lys254Glu)
n.2359A>G
c.*1980+6551T>C (n.*1980+6551T>C)
c.636+6551T>C
n.3995+6551T>C
c.592A>G (p.Lys198Glu)
c.787A>G (p.Lys263Glu)
c.658A>G (p.Lys220Glu)
n.1415-242A>G
 ClinVar dbSNP
3g.132675363A>TCA354576425NPHP3-ACAD11,UBA5c.1099A>T (p.Lys367Ter)
c.928A>T (p.Lys310Ter)
c.760A>T (p.Lys254Ter)
n.2359A>T
c.*1980+6551T>A (n.*1980+6551T>A)
c.636+6551T>A
n.3995+6551T>A
c.592A>T (p.Lys198Ter)
c.787A>T (p.Lys263Ter)
c.658A>T (p.Lys220Ter)
n.1415-242A>T

Number of alleles fetched