Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.132672143G>ACA10588809NPHP3-ACAD11,UBA5c.949G>A (p.Val317Met)
c.778G>A (p.Val260Met)
c.610G>A (p.Val204Met)
n.2209G>A
n.567G>A
c.*1980+9771C>T (n.*1980+9771C>T)
c.636+9771C>T
n.3995+9771C>T
c.442G>A (p.Val148Met)
c.637G>A (p.Val213Met)
c.508G>A (p.Val170Met)
n.1380G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.132672143G>CCA354574815NPHP3-ACAD11,UBA5c.949G>C (p.Val317Leu)
c.778G>C (p.Val260Leu)
c.610G>C (p.Val204Leu)
n.2209G>C
n.567G>C
c.*1980+9771C>G (n.*1980+9771C>G)
c.636+9771C>G
n.3995+9771C>G
c.442G>C (p.Val148Leu)
c.637G>C (p.Val213Leu)
c.508G>C (p.Val170Leu)
n.1380G>C
3g.132672143G=CA1402636911NPHP3-ACAD11,UBA5c.949G= (p.Val317=)
c.778G= (p.Val260=)
c.610G= (p.Val204=)
n.2209G=
n.567G=
c.*1980+9771C= (n.*1980+9771C=)
c.636+9771C=
n.3995+9771C=
c.442G= (p.Val148=)
c.637G= (p.Val213=)
c.508G= (p.Val170=)
n.1380G=
3g.132672143G>TCA354574817NPHP3-ACAD11,UBA5c.949G>T (p.Val317Leu)
c.778G>T (p.Val260Leu)
c.610G>T (p.Val204Leu)
n.2209G>T
n.567G>T
c.*1980+9771C>A (n.*1980+9771C>A)
c.636+9771C>A
n.3995+9771C>A
c.442G>T (p.Val148Leu)
c.637G>T (p.Val213Leu)
c.508G>T (p.Val170Leu)
n.1380G>T
3g.132672144T>ACA354574820NPHP3-ACAD11,UBA5c.950T>A (p.Val317Glu)
c.779T>A (p.Val260Glu)
c.611T>A (p.Val204Glu)
n.2210T>A
n.568T>A
c.*1980+9770A>T (n.*1980+9770A>T)
c.636+9770A>T
n.3995+9770A>T
c.443T>A (p.Val148Glu)
c.638T>A (p.Val213Glu)
c.509T>A (p.Val170Glu)
n.1381T>A
3g.132672144T>CCA354574821NPHP3-ACAD11,UBA5c.950T>C (p.Val317Ala)
c.779T>C (p.Val260Ala)
c.611T>C (p.Val204Ala)
n.2210T>C
n.568T>C
c.*1980+9770A>G (n.*1980+9770A>G)
c.636+9770A>G
n.3995+9770A>G
c.443T>C (p.Val148Ala)
c.638T>C (p.Val213Ala)
c.509T>C (p.Val170Ala)
n.1381T>C
3g.132672144T>GCA354574819NPHP3-ACAD11,UBA5c.950T>G (p.Val317Gly)
c.779T>G (p.Val260Gly)
c.611T>G (p.Val204Gly)
n.2210T>G
n.568T>G
c.*1980+9770A>C (n.*1980+9770A>C)
c.636+9770A>C
n.3995+9770A>C
c.443T>G (p.Val148Gly)
c.638T>G (p.Val213Gly)
c.509T>G (p.Val170Gly)
n.1381T>G
3g.132672145G>ACA435799600NPHP3-ACAD11,UBA5c.951G>A (p.Val317=)
c.780G>A (p.Val260=)
c.612G>A (p.Val204=)
n.2211G>A
n.569G>A
c.*1980+9769C>T (n.*1980+9769C>T)
c.636+9769C>T
n.3995+9769C>T
c.444G>A (p.Val148=)
c.639G>A (p.Val213=)
c.510G>A (p.Val170=)
n.1382G>A
3g.132672145G>CCA435799602NPHP3-ACAD11,UBA5c.951G>C (p.Val317=)
c.780G>C (p.Val260=)
c.612G>C (p.Val204=)
n.2211G>C
n.569G>C
c.*1980+9769C>G (n.*1980+9769C>G)
c.636+9769C>G
n.3995+9769C>G
c.444G>C (p.Val148=)
c.639G>C (p.Val213=)
c.510G>C (p.Val170=)
n.1382G>C
3g.132672145G>TCA435799601NPHP3-ACAD11,UBA5c.951G>T (p.Val317=)
c.780G>T (p.Val260=)
c.612G>T (p.Val204=)
n.2211G>T
n.569G>T
c.*1980+9769C>A (n.*1980+9769C>A)
c.636+9769C>A
n.3995+9769C>A
c.444G>T (p.Val148=)
c.639G>T (p.Val213=)
c.510G>T (p.Val170=)
n.1382G>T
 gnomAD v4
3g.132672146G>ACA2621451NPHP3-ACAD11,UBA5c.952G>A (p.Val318Ile)
c.781G>A (p.Val261Ile)
c.613G>A (p.Val205Ile)
n.2212G>A
n.570G>A
c.*1980+9768C>T (n.*1980+9768C>T)
c.636+9768C>T
n.3995+9768C>T
c.445G>A (p.Val149Ile)
c.640G>A (p.Val214Ile)
c.511G>A (p.Val171Ile)
n.1383G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.132672146G>CCA354574823NPHP3-ACAD11,UBA5c.952G>C (p.Val318Leu)
c.781G>C (p.Val261Leu)
c.613G>C (p.Val205Leu)
n.2212G>C
n.570G>C
c.*1980+9768C>G (n.*1980+9768C>G)
c.636+9768C>G
n.3995+9768C>G
c.445G>C (p.Val149Leu)
c.640G>C (p.Val214Leu)
c.511G>C (p.Val171Leu)
n.1383G>C
3g.132672146G=CA1402636916NPHP3-ACAD11,UBA5c.952G= (p.Val318=)
c.781G= (p.Val261=)
c.613G= (p.Val205=)
n.2212G=
n.570G=
c.*1980+9768C= (n.*1980+9768C=)
c.636+9768C=
n.3995+9768C=
c.445G= (p.Val149=)
c.640G= (p.Val214=)
c.511G= (p.Val171=)
n.1383G=
3g.132672146G>TCA354574825NPHP3-ACAD11,UBA5c.952G>T (p.Val318Phe)
c.781G>T (p.Val261Phe)
c.613G>T (p.Val205Phe)
n.2212G>T
n.570G>T
c.*1980+9768C>A (n.*1980+9768C>A)
c.636+9768C>A
n.3995+9768C>A
c.445G>T (p.Val149Phe)
c.640G>T (p.Val214Phe)
c.511G>T (p.Val171Phe)
n.1383G>T
3g.132672147T>ACA354574827NPHP3-ACAD11,UBA5c.953T>A (p.Val318Asp)
c.782T>A (p.Val261Asp)
c.614T>A (p.Val205Asp)
n.2213T>A
n.571T>A
c.*1980+9767A>T (n.*1980+9767A>T)
c.636+9767A>T
n.3995+9767A>T
c.446T>A (p.Val149Asp)
c.641T>A (p.Val214Asp)
c.512T>A (p.Val171Asp)
n.1384T>A
3g.132672147T>CCA354574829NPHP3-ACAD11,UBA5c.953T>C (p.Val318Ala)
c.782T>C (p.Val261Ala)
c.614T>C (p.Val205Ala)
n.2213T>C
n.571T>C
c.*1980+9767A>G (n.*1980+9767A>G)
c.636+9767A>G
n.3995+9767A>G
c.446T>C (p.Val149Ala)
c.641T>C (p.Val214Ala)
c.512T>C (p.Val171Ala)
n.1384T>C
3g.132672147T>GCA354574831NPHP3-ACAD11,UBA5c.953T>G (p.Val318Gly)
c.782T>G (p.Val261Gly)
c.614T>G (p.Val205Gly)
n.2213T>G
n.571T>G
c.*1980+9767A>C (n.*1980+9767A>C)
c.636+9767A>C
n.3995+9767A>C
c.446T>G (p.Val149Gly)
c.641T>G (p.Val214Gly)
c.512T>G (p.Val171Gly)
n.1384T>G
3g.132672148dupCA2667734367NPHP3-ACAD11,UBA5c.954dup (p.Ala319CysfsTer19)
c.783dup (p.Ala262CysfsTer19)
c.615dup (p.Ala206CysfsTer19)
n.2214dup
n.572dup
c.*1980+9767dup (n.*1980+9767dup)
c.636+9767dup
n.3995+9767dup
c.447dup (p.Ala150CysfsTer19)
c.642dup (p.Ala215CysfsTer19)
c.513dup (p.Ala172CysfsTer19)
n.1385dup
 gnomAD v4
3g.132672148T>ACA435799604NPHP3-ACAD11,UBA5c.954T>A (p.Val318=)
c.783T>A (p.Val261=)
c.615T>A (p.Val205=)
n.2214T>A
n.572T>A
c.*1980+9766A>T (n.*1980+9766A>T)
c.636+9766A>T
n.3995+9766A>T
c.447T>A (p.Val149=)
c.642T>A (p.Val214=)
c.513T>A (p.Val171=)
n.1385T>A
 gnomAD v4
3g.132672148T>CCA435799605NPHP3-ACAD11,UBA5c.954T>C (p.Val318=)
c.783T>C (p.Val261=)
c.615T>C (p.Val205=)
n.2214T>C
n.572T>C
c.*1980+9766A>G (n.*1980+9766A>G)
c.636+9766A>G
n.3995+9766A>G
c.447T>C (p.Val149=)
c.642T>C (p.Val214=)
c.513T>C (p.Val171=)
n.1385T>C
3g.132672148T>GCA435799607NPHP3-ACAD11,UBA5c.954T>G (p.Val318=)
c.783T>G (p.Val261=)
c.615T>G (p.Val205=)
n.2214T>G
n.572T>G
c.*1980+9766A>C (n.*1980+9766A>C)
c.636+9766A>C
n.3995+9766A>C
c.447T>G (p.Val149=)
c.642T>G (p.Val214=)
c.513T>G (p.Val171=)
n.1385T>G
3g.132672149G>ACA354574833NPHP3-ACAD11,UBA5c.955G>A (p.Ala319Thr)
c.784G>A (p.Ala262Thr)
c.616G>A (p.Ala206Thr)
n.2215G>A
n.573G>A
c.*1980+9765C>T (n.*1980+9765C>T)
c.636+9765C>T
n.3995+9765C>T
c.448G>A (p.Ala150Thr)
c.643G>A (p.Ala215Thr)
c.514G>A (p.Ala172Thr)
n.1386G>A
3g.132672149G>CCA354574834NPHP3-ACAD11,UBA5c.955G>C (p.Ala319Pro)
c.784G>C (p.Ala262Pro)
c.616G>C (p.Ala206Pro)
n.2215G>C
n.573G>C
c.*1980+9765C>G (n.*1980+9765C>G)
c.636+9765C>G
n.3995+9765C>G
c.448G>C (p.Ala150Pro)
c.643G>C (p.Ala215Pro)
c.514G>C (p.Ala172Pro)
n.1386G>C
3g.132672149G>TCA354574836NPHP3-ACAD11,UBA5c.955G>T (p.Ala319Ser)
c.784G>T (p.Ala262Ser)
c.616G>T (p.Ala206Ser)
n.2215G>T
n.573G>T
c.*1980+9765C>A (n.*1980+9765C>A)
c.636+9765C>A
n.3995+9765C>A
c.448G>T (p.Ala150Ser)
c.643G>T (p.Ala215Ser)
c.514G>T (p.Ala172Ser)
n.1386G>T
3g.132672150C>ACA354574839NPHP3-ACAD11,UBA5c.956C>A (p.Ala319Asp)
c.785C>A (p.Ala262Asp)
c.617C>A (p.Ala206Asp)
n.2216C>A
n.574C>A
c.*1980+9764G>T (n.*1980+9764G>T)
c.636+9764G>T
n.3995+9764G>T
c.449C>A (p.Ala150Asp)
c.644C>A (p.Ala215Asp)
c.515C>A (p.Ala172Asp)
n.1387C>A
3g.132672150C>GCA354574840NPHP3-ACAD11,UBA5c.956C>G (p.Ala319Gly)
c.785C>G (p.Ala262Gly)
c.617C>G (p.Ala206Gly)
n.2216C>G
n.574C>G
c.*1980+9764G>C (n.*1980+9764G>C)
c.636+9764G>C
n.3995+9764G>C
c.449C>G (p.Ala150Gly)
c.644C>G (p.Ala215Gly)
c.515C>G (p.Ala172Gly)
n.1387C>G
3g.132672150C>TCA354574842NPHP3-ACAD11,UBA5c.956C>T (p.Ala319Val)
c.785C>T (p.Ala262Val)
c.617C>T (p.Ala206Val)
n.2216C>T
n.574C>T
c.*1980+9764G>A (n.*1980+9764G>A)
c.636+9764G>A
n.3995+9764G>A
c.449C>T (p.Ala150Val)
c.644C>T (p.Ala215Val)
c.515C>T (p.Ala172Val)
n.1387C>T
3g.132672151T>ACA435799612NPHP3-ACAD11,UBA5c.957T>A (p.Ala319=)
c.786T>A (p.Ala262=)
c.618T>A (p.Ala206=)
n.2217T>A
n.575T>A
c.*1980+9763A>T (n.*1980+9763A>T)
c.636+9763A>T
n.3995+9763A>T
c.450T>A (p.Ala150=)
c.645T>A (p.Ala215=)
c.516T>A (p.Ala172=)
n.1388T>A
3g.132672151T>CCA435799613NPHP3-ACAD11,UBA5c.957T>C (p.Ala319=)
c.786T>C (p.Ala262=)
c.618T>C (p.Ala206=)
n.2217T>C
n.575T>C
c.*1980+9763A>G (n.*1980+9763A>G)
c.636+9763A>G
n.3995+9763A>G
c.450T>C (p.Ala150=)
c.645T>C (p.Ala215=)
c.516T>C (p.Ala172=)
n.1388T>C
 gnomAD v4
3g.132672151T>GCA435799614NPHP3-ACAD11,UBA5c.957T>G (p.Ala319=)
c.786T>G (p.Ala262=)
c.618T>G (p.Ala206=)
n.2217T>G
n.575T>G
c.*1980+9763A>C (n.*1980+9763A>C)
c.636+9763A>C
n.3995+9763A>C
c.450T>G (p.Ala150=)
c.645T>G (p.Ala215=)
c.516T>G (p.Ala172=)
n.1388T>G
3g.132672152G>ACA354574849NPHP3-ACAD11,UBA5c.958G>A (p.Gly320Arg)
c.787G>A (p.Gly263Arg)
c.619G>A (p.Gly207Arg)
n.2218G>A
n.576G>A
c.*1980+9762C>T (n.*1980+9762C>T)
c.636+9762C>T
n.3995+9762C>T
c.451G>A (p.Gly151Arg)
c.646G>A (p.Gly216Arg)
c.517G>A (p.Gly173Arg)
n.1389G>A
 dbSNP
3g.132672152G>CCA354574845NPHP3-ACAD11,UBA5c.958G>C (p.Gly320Arg)
c.787G>C (p.Gly263Arg)
c.619G>C (p.Gly207Arg)
n.2218G>C
n.576G>C
c.*1980+9762C>G (n.*1980+9762C>G)
c.636+9762C>G
n.3995+9762C>G
c.451G>C (p.Gly151Arg)
c.646G>C (p.Gly216Arg)
c.517G>C (p.Gly173Arg)
n.1389G>C
3g.132672152G>TCA354574847NPHP3-ACAD11,UBA5c.958G>T (p.Gly320Trp)
c.787G>T (p.Gly263Trp)
c.619G>T (p.Gly207Trp)
n.2218G>T
n.576G>T
c.*1980+9762C>A (n.*1980+9762C>A)
c.636+9762C>A
n.3995+9762C>A
c.451G>T (p.Gly151Trp)
c.646G>T (p.Gly216Trp)
c.517G>T (p.Gly173Trp)
n.1389G>T
3g.132672153G>ACA354574851NPHP3-ACAD11,UBA5c.959G>A (p.Gly320Glu)
c.788G>A (p.Gly263Glu)
c.620G>A (p.Gly207Glu)
n.2219G>A
n.577G>A
c.*1980+9761C>T (n.*1980+9761C>T)
c.636+9761C>T
n.3995+9761C>T
c.452G>A (p.Gly151Glu)
c.647G>A (p.Gly216Glu)
c.518G>A (p.Gly173Glu)
n.1390G>A
3g.132672153G>CCA354574853NPHP3-ACAD11,UBA5c.959G>C (p.Gly320Ala)
c.788G>C (p.Gly263Ala)
c.620G>C (p.Gly207Ala)
n.2219G>C
n.577G>C
c.*1980+9761C>G (n.*1980+9761C>G)
c.636+9761C>G
n.3995+9761C>G
c.452G>C (p.Gly151Ala)
c.647G>C (p.Gly216Ala)
c.518G>C (p.Gly173Ala)
n.1390G>C
3g.132672153G>TCA354574855NPHP3-ACAD11,UBA5c.959G>T (p.Gly320Val)
c.788G>T (p.Gly263Val)
c.620G>T (p.Gly207Val)
n.2219G>T
n.577G>T
c.*1980+9761C>A (n.*1980+9761C>A)
c.636+9761C>A
n.3995+9761C>A
c.452G>T (p.Gly151Val)
c.647G>T (p.Gly216Val)
c.518G>T (p.Gly173Val)
n.1390G>T
 gnomAD v4
3g.132672154G>ACA435799618NPHP3-ACAD11,UBA5c.960G>A (p.Gly320=)
c.789G>A (p.Gly263=)
c.621G>A (p.Gly207=)
n.2220G>A
n.578G>A
c.*1980+9760C>T (n.*1980+9760C>T)
c.636+9760C>T
n.3995+9760C>T
c.453G>A (p.Gly151=)
c.648G>A (p.Gly216=)
c.519G>A (p.Gly173=)
n.1391G>A
 dbSNP gnomAD v3 gnomAD v4
3g.132672154G>CCA435799619NPHP3-ACAD11,UBA5c.960G>C (p.Gly320=)
c.789G>C (p.Gly263=)
c.621G>C (p.Gly207=)
n.2220G>C
n.578G>C
c.*1980+9760C>G (n.*1980+9760C>G)
c.636+9760C>G
n.3995+9760C>G
c.453G>C (p.Gly151=)
c.648G>C (p.Gly216=)
c.519G>C (p.Gly173=)
n.1391G>C
3g.132672154G=CA1402636919NPHP3-ACAD11,UBA5c.960G= (p.Gly320=)
c.789G= (p.Gly263=)
c.621G= (p.Gly207=)
n.2220G=
n.578G=
c.*1980+9760C= (n.*1980+9760C=)
c.636+9760C=
n.3995+9760C=
c.453G= (p.Gly151=)
c.648G= (p.Gly216=)
c.519G= (p.Gly173=)
n.1391G=
3g.132672154G>TCA435799621NPHP3-ACAD11,UBA5c.960G>T (p.Gly320=)
c.789G>T (p.Gly263=)
c.621G>T (p.Gly207=)
n.2220G>T
n.578G>T
c.*1980+9760C>A (n.*1980+9760C>A)
c.636+9760C>A
n.3995+9760C>A
c.453G>T (p.Gly151=)
c.648G>T (p.Gly216=)
c.519G>T (p.Gly173=)
n.1391G>T
3g.132672155A>CCA354574857NPHP3-ACAD11,UBA5c.961A>C (p.Ile321Leu)
c.790A>C (p.Ile264Leu)
c.622A>C (p.Ile208Leu)
n.2221A>C
n.579A>C
c.*1980+9759T>G (n.*1980+9759T>G)
c.636+9759T>G
n.3995+9759T>G
c.454A>C (p.Ile152Leu)
c.649A>C (p.Ile217Leu)
c.520A>C (p.Ile174Leu)
n.1392A>C
3g.132672155A>GCA354574859NPHP3-ACAD11,UBA5c.961A>G (p.Ile321Val)
c.790A>G (p.Ile264Val)
c.622A>G (p.Ile208Val)
n.2221A>G
n.579A>G
c.*1980+9759T>C (n.*1980+9759T>C)
c.636+9759T>C
n.3995+9759T>C
c.454A>G (p.Ile152Val)
c.649A>G (p.Ile217Val)
c.520A>G (p.Ile174Val)
n.1392A>G
3g.132672155A>TCA354574860NPHP3-ACAD11,UBA5c.961A>T (p.Ile321Phe)
c.790A>T (p.Ile264Phe)
c.622A>T (p.Ile208Phe)
n.2221A>T
n.579A>T
c.*1980+9759T>A (n.*1980+9759T>A)
c.636+9759T>A
n.3995+9759T>A
c.454A>T (p.Ile152Phe)
c.649A>T (p.Ile217Phe)
c.520A>T (p.Ile174Phe)
n.1392A>T
3g.132672156T>ACA354574862NPHP3-ACAD11,UBA5c.962T>A (p.Ile321Asn)
c.791T>A (p.Ile264Asn)
c.623T>A (p.Ile208Asn)
n.2222T>A
n.580T>A
c.*1980+9758A>T (n.*1980+9758A>T)
c.636+9758A>T
n.3995+9758A>T
c.455T>A (p.Ile152Asn)
c.650T>A (p.Ile217Asn)
c.521T>A (p.Ile174Asn)
n.1393T>A
3g.132672156T>CCA354574864NPHP3-ACAD11,UBA5c.962T>C (p.Ile321Thr)
c.791T>C (p.Ile264Thr)
c.623T>C (p.Ile208Thr)
n.2222T>C
n.580T>C
c.*1980+9758A>G (n.*1980+9758A>G)
c.636+9758A>G
n.3995+9758A>G
c.455T>C (p.Ile152Thr)
c.650T>C (p.Ile217Thr)
c.521T>C (p.Ile174Thr)
n.1393T>C
 dbSNP
3g.132672156T>GCA354574865NPHP3-ACAD11,UBA5c.962T>G (p.Ile321Ser)
c.791T>G (p.Ile264Ser)
c.623T>G (p.Ile208Ser)
n.2222T>G
n.580T>G
c.*1980+9758A>C (n.*1980+9758A>C)
c.636+9758A>C
n.3995+9758A>C
c.455T>G (p.Ile152Ser)
c.650T>G (p.Ile217Ser)
c.521T>G (p.Ile174Ser)
n.1393T>G
3g.132672157C>ACA435799624NPHP3-ACAD11,UBA5c.963C>A (p.Ile321=)
c.792C>A (p.Ile264=)
c.624C>A (p.Ile208=)
n.2223C>A
n.581C>A
c.*1980+9757G>T (n.*1980+9757G>T)
c.636+9757G>T
n.3995+9757G>T
c.456C>A (p.Ile152=)
c.651C>A (p.Ile217=)
c.522C>A (p.Ile174=)
n.1394C>A
3g.132672157C>GCA354574867NPHP3-ACAD11,UBA5c.963C>G (p.Ile321Met)
c.792C>G (p.Ile264Met)
c.624C>G (p.Ile208Met)
n.2223C>G
n.581C>G
c.*1980+9757G>C (n.*1980+9757G>C)
c.636+9757G>C
n.3995+9757G>C
c.456C>G (p.Ile152Met)
c.651C>G (p.Ile217Met)
c.522C>G (p.Ile174Met)
n.1394C>G
3g.132672157C>TCA435799625NPHP3-ACAD11,UBA5c.963C>T (p.Ile321=)
c.792C>T (p.Ile264=)
c.624C>T (p.Ile208=)
n.2223C>T
n.581C>T
c.*1980+9757G>A (n.*1980+9757G>A)
c.636+9757G>A
n.3995+9757G>A
c.456C>T (p.Ile152=)
c.651C>T (p.Ile217=)
c.522C>T (p.Ile174=)
n.1394C>T
3g.132672158T>ACA354574869NPHP3-ACAD11,UBA5c.964T>A (p.Leu322Ile)
c.793T>A (p.Leu265Ile)
c.625T>A (p.Leu209Ile)
n.2224T>A
n.582T>A
c.*1980+9756A>T (n.*1980+9756A>T)
c.636+9756A>T
n.3995+9756A>T
c.457T>A (p.Leu153Ile)
c.652T>A (p.Leu218Ile)
c.523T>A (p.Leu175Ile)
n.1395T>A
 gnomAD v4

Number of alleles fetched