Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.179559634_179559645delCA2649315906NPHS2c.534+34_534+45del (n.534+34_534+45del)
c.357+34_357+45del (n.357+34_357+45del)
c.461+34_461+45del (n.461+34_461+45del)
 gnomAD v4
1g.179559645G>ACA33699614NPHS2c.534+34C>T (n.534+34C>T)
c.357+34C>T (n.357+34C>T)
c.461+34C>T (n.461+34C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.179559645G=CA1210320256NPHS2c.534+34C= (n.534+34C=)
c.357+34C= (n.357+34C=)
c.461+34C= (n.461+34C=)
1g.179559645G>TCA527198655NPHS2c.534+34C>A (n.534+34C>A)
c.357+34C>A (n.357+34C>A)
c.461+34C>A (n.461+34C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.179559646T>CCA33699624NPHS2c.534+33A>G (n.534+33A>G)
c.357+33A>G (n.357+33A>G)
c.461+33A>G (n.461+33A>G)
 dbSNP gnomAD v4
1g.179559646T=CA1210320257NPHS2c.534+33A= (n.534+33A=)
c.357+33A= (n.357+33A=)
c.461+33A= (n.461+33A=)
1g.179559647A=CA1210320258NPHS2c.534+32T= (n.534+32T=)
c.357+32T= (n.357+32T=)
c.461+32T= (n.461+32T=)
1g.179559647A>GCA1009659989NPHS2c.534+32T>C (n.534+32T>C)
c.357+32T>C (n.357+32T>C)
c.461+32T>C (n.461+32T>C)
 dbSNP gnomAD v3 gnomAD v4
1g.179559647A>TCA2649315919NPHS2c.534+32T>A (n.534+32T>A)
c.357+32T>A (n.357+32T>A)
c.461+32T>A (n.461+32T>A)
 gnomAD v4
1g.179559648T>CCA1210320260NPHS2c.534+31A>G (n.534+31A>G)
c.357+31A>G (n.357+31A>G)
c.461+31A>G (n.461+31A>G)
 dbSNP gnomAD v4
1g.179559648T=CA1210320259NPHS2c.534+31A= (n.534+31A=)
c.357+31A= (n.357+31A=)
c.461+31A= (n.461+31A=)
1g.179559649_179559671delCA2649315920NPHS2c.534+9_534+31del (n.534+9_534+31del)
c.357+9_357+31del (n.357+9_357+31del)
c.461+9_461+31del (n.461+9_461+31del)
 gnomAD v4
1g.179559649A=CA1210320261NPHS2c.534+30T= (n.534+30T=)
c.357+30T= (n.357+30T=)
c.461+30T= (n.461+30T=)
1g.179559649A>GCA527198656NPHS2c.534+30T>C (n.534+30T>C)
c.357+30T>C (n.357+30T>C)
c.461+30T>C (n.461+30T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.179559650G>CCA2573959018NPHS2c.534+29C>G (n.534+29C>G)
c.357+29C>G (n.357+29C>G)
c.461+29C>G (n.461+29C>G)
1g.179559650G>TCA2573959019NPHS2c.534+29C>A (n.534+29C>A)
c.357+29C>A (n.357+29C>A)
c.461+29C>A (n.461+29C>A)
 gnomAD v4
1g.179559651A>GCA2573959020NPHS2c.534+28T>C (n.534+28T>C)
c.357+28T>C (n.357+28T>C)
c.461+28T>C (n.461+28T>C)
 gnomAD v4
1g.179559651A>TCA2649315923NPHS2c.534+28T>A (n.534+28T>A)
c.357+28T>A (n.357+28T>A)
c.461+28T>A (n.461+28T>A)
 gnomAD v4
1g.179559652G>CCA527198657NPHS2c.534+27C>G (n.534+27C>G)
c.357+27C>G (n.357+27C>G)
c.461+27C>G (n.461+27C>G)
 dbSNP gnomAD v2 gnomAD v4
1g.179559652G=CA1210320263NPHS2c.534+27C= (n.534+27C=)
c.357+27C= (n.357+27C=)
c.461+27C= (n.461+27C=)
1g.179559652G>TCA2649315924NPHS2c.534+27C>A (n.534+27C>A)
c.357+27C>A (n.357+27C>A)
c.461+27C>A (n.461+27C>A)
 gnomAD v4
1g.179559652_179559660delinsGAAAGCAAACA1210320262NPHS2c.534+19_534+27delinsTTTGCTTTC (n.534+19_534+27delinsTTTGCTTTC)
c.357+19_357+27delinsTTTGCTTTC (n.357+19_357+27delinsTTTGCTTTC)
c.461+19_461+27delinsTTTGCTTTC (n.461+19_461+27delinsTTTGCTTTC)
1g.179559654_179559661delCA1210320264NPHS2c.534+19_534+26del (n.534+19_534+26del)
c.357+19_357+26del (n.357+19_357+26del)
c.461+19_461+26del (n.461+19_461+26del)
 dbSNP
1g.179559654A>CCA2649315925NPHS2c.534+25T>G (n.534+25T>G)
c.357+25T>G (n.357+25T>G)
c.461+25T>G (n.461+25T>G)
 gnomAD v4
1g.179559654A>GCA2649315926NPHS2c.534+25T>C (n.534+25T>C)
c.357+25T>C (n.357+25T>C)
c.461+25T>C (n.461+25T>C)
 gnomAD v4
1g.179559655A>GCA2649315927NPHS2c.534+24T>C (n.534+24T>C)
c.357+24T>C (n.357+24T>C)
c.461+24T>C (n.461+24T>C)
 gnomAD v4
1g.179559656G>ACA1267194NPHS2c.534+23C>T (n.534+23C>T)
c.357+23C>T (n.357+23C>T)
c.461+23C>T (n.461+23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.179559656G=CA1210320265NPHS2c.534+23C= (n.534+23C=)
c.357+23C= (n.357+23C=)
c.461+23C= (n.461+23C=)
1g.179559656G>TCA2649315928NPHS2c.534+23C>A (n.534+23C>A)
c.357+23C>A (n.357+23C>A)
c.461+23C>A (n.461+23C>A)
 gnomAD v4
1g.179559657C>ACA2649315929NPHS2c.534+22G>T (n.534+22G>T)
c.357+22G>T (n.357+22G>T)
c.461+22G>T (n.461+22G>T)
 gnomAD v4
1g.179559657C>TCA2649315930NPHS2c.534+22G>A (n.534+22G>A)
c.357+22G>A (n.357+22G>A)
c.461+22G>A (n.461+22G>A)
 gnomAD v4
1g.179559661A>GCA2649315931NPHS2c.534+18T>C (n.534+18T>C)
c.357+18T>C (n.357+18T>C)
c.461+18T>C (n.461+18T>C)
 gnomAD v4
1g.179559662G>ACA2649315933NPHS2c.534+17C>T (n.534+17C>T)
c.357+17C>T (n.357+17C>T)
c.461+17C>T (n.461+17C>T)
 gnomAD v4
1g.179559662G>CCA2573959025NPHS2c.534+17C>G (n.534+17C>G)
c.357+17C>G (n.357+17C>G)
c.461+17C>G (n.461+17C>G)
1g.179559662G>TCA646270992NPHS2c.534+17C>A (n.534+17C>A)
c.357+17C>A (n.357+17C>A)
c.461+17C>A (n.461+17C>A)
 gnomAD v4 COSMIC
1g.179559663C>ACA2649315934NPHS2c.534+16G>T (n.534+16G>T)
c.357+16G>T (n.357+16G>T)
c.461+16G>T (n.461+16G>T)
 gnomAD v4
1g.179559663C=CA1210320266NPHS2c.534+16G= (n.534+16G=)
c.357+16G= (n.357+16G=)
c.461+16G= (n.461+16G=)
1g.179559663C>GCA527198659NPHS2c.534+16G>C (n.534+16G>C)
c.357+16G>C (n.357+16G>C)
c.461+16G>C (n.461+16G>C)
 dbSNP gnomAD v2 gnomAD v4
1g.179559663C>TCA2649315936NPHS2c.534+16G>A (n.534+16G>A)
c.357+16G>A (n.357+16G>A)
c.461+16G>A (n.461+16G>A)
 gnomAD v4
1g.179559664C>ACA2649315937NPHS2c.534+15G>T (n.534+15G>T)
c.357+15G>T (n.357+15G>T)
c.461+15G>T (n.461+15G>T)
 gnomAD v4
1g.179559664C>TCA2649315938NPHS2c.534+15G>A (n.534+15G>A)
c.357+15G>A (n.357+15G>A)
c.461+15G>A (n.461+15G>A)
 gnomAD v4
1g.179559665A=CA1210320267NPHS2c.534+14T= (n.534+14T=)
c.357+14T= (n.357+14T=)
c.461+14T= (n.461+14T=)
1g.179559665A>GCA2649315939NPHS2c.534+14T>C (n.534+14T>C)
c.357+14T>C (n.357+14T>C)
c.461+14T>C (n.461+14T>C)
 gnomAD v4
1g.179559665A>TCA1210320268NPHS2c.534+14T>A (n.534+14T>A)
c.357+14T>A (n.357+14T>A)
c.461+14T>A (n.461+14T>A)
 dbSNP
1g.179559666T>ACA1267195NPHS2c.534+13A>T (n.534+13A>T)
c.357+13A>T (n.357+13A>T)
c.461+13A>T (n.461+13A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.179559666T>CCA2649315940NPHS2c.534+13A>G (n.534+13A>G)
c.357+13A>G (n.357+13A>G)
c.461+13A>G (n.461+13A>G)
 gnomAD v4
1g.179559666T=CA1143299571NPHS2c.534+13A= (n.534+13A=)
c.357+13A= (n.357+13A=)
c.461+13A= (n.461+13A=)
1g.179559667C>ACA2649315943NPHS2c.534+12G>T (n.534+12G>T)
c.357+12G>T (n.357+12G>T)
c.461+12G>T (n.461+12G>T)
 gnomAD v4
1g.179559668A>GCA2649315944NPHS2c.534+11T>C (n.534+11T>C)
c.357+11T>C (n.357+11T>C)
c.461+11T>C (n.461+11T>C)
 gnomAD v4
1g.179559669T>CCA2649315946NPHS2c.534+10A>G (n.534+10A>G)
c.357+10A>G (n.357+10A>G)
c.461+10A>G (n.461+10A>G)
 gnomAD v4
1g.179559671delCA2573131331NPHS2c.534+10del (n.534+10del)
c.357+10del (n.357+10del)
c.461+10del (n.461+10del)
 ClinVar dbSNP gnomAD v4
1g.179559670T>CCA2649315949NPHS2c.534+9A>G (n.534+9A>G)
c.357+9A>G (n.357+9A>G)
c.461+9A>G (n.461+9A>G)
 gnomAD v4
1g.179559671T>CCA2649315950NPHS2c.534+8A>G (n.534+8A>G)
c.357+8A>G (n.357+8A>G)
c.461+8A>G (n.461+8A>G)
 gnomAD v4
1g.179559672G>TCA2499214326NPHS2c.534+7C>A (n.534+7C>A)
c.357+7C>A (n.357+7C>A)
c.461+7C>A (n.461+7C>A)
 ClinVar dbSNP gnomAD v4
1g.179559673G>ACA2573959036NPHS2c.534+6C>T (n.534+6C>T)
c.357+6C>T (n.357+6C>T)
c.461+6C>T (n.461+6C>T)
 gnomAD v4
1g.179559673G=CA1210320269NPHS2c.534+6C= (n.534+6C=)
c.357+6C= (n.357+6C=)
c.461+6C= (n.461+6C=)
1g.179559673G>TCA527198660NPHS2c.534+6C>A (n.534+6C>A)
c.357+6C>A (n.357+6C>A)
c.461+6C>A (n.461+6C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.179559674C>ACA2649315953NPHS2c.534+5G>T (n.534+5G>T)
c.357+5G>T (n.357+5G>T)
c.461+5G>T (n.461+5G>T)
 gnomAD v4
1g.179559674C=CA1210320270NPHS2c.534+5G= (n.534+5G=)
c.357+5G= (n.357+5G=)
c.461+5G= (n.461+5G=)
1g.179559674C>TCA527198662NPHS2c.534+5G>A (n.534+5G>A)
c.357+5G>A (n.357+5G>A)
c.461+5G>A (n.461+5G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.179559675T>CCA2573959049NPHS2c.534+4A>G (n.534+4A>G)
c.357+4A>G (n.357+4A>G)
c.461+4A>G (n.461+4A>G)
1g.179559676delCA2649315954NPHS2c.534+4del (n.534+4del)
c.357+4del (n.357+4del)
c.461+4del (n.461+4del)
 gnomAD v4
1g.179559676T>CCA891818139NPHS2c.534+3A>G (n.534+3A>G)
c.357+3A>G (n.357+3A>G)
c.461+3A>G (n.461+3A>G)
 dbSNP gnomAD v4
1g.179559676T=CA1210320271NPHS2c.534+3A= (n.534+3A=)
c.357+3A= (n.357+3A=)
c.461+3A= (n.461+3A=)
1g.179559677A>CCA343568671NPHS2c.534+2T>G (n.534+2T>G)
c.357+2T>G (n.357+2T>G)
c.461+2T>G (n.461+2T>G)
1g.179559677A>GCA343568673NPHS2c.534+2T>C (n.534+2T>C)
c.357+2T>C (n.357+2T>C)
c.461+2T>C (n.461+2T>C)
1g.179559677A>TCA343568675NPHS2c.534+2T>A (n.534+2T>A)
c.357+2T>A (n.357+2T>A)
c.461+2T>A (n.461+2T>A)
1g.179559678C>ACA343568677NPHS2c.534+1G>T (n.534+1G>T)
c.357+1G>T (n.357+1G>T)
c.461+1G>T (n.461+1G>T)
1g.179559678C=CA1210320272NPHS2c.534+1G= (n.534+1G=)
c.357+1G= (n.357+1G=)
c.461+1G= (n.461+1G=)
1g.179559678C>GCA343568678NPHS2c.534+1G>C (n.534+1G>C)
c.357+1G>C (n.357+1G>C)
c.461+1G>C (n.461+1G>C)
 gnomAD v4
1g.179559678C>TCA343568679NPHS2c.534+1G>A (n.534+1G>A)
c.357+1G>A (n.357+1G>A)
c.461+1G>A (n.461+1G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.179559679C>ACA343568682NPHS2c.534G>T (p.Glu178Asp)
c.357G>T (p.Glu119Asp)
c.461G>T (p.Ser154Ile)
 gnomAD v4
1g.179559679C>GCA343568683NPHS2c.534G>C (p.Glu178Asp)
c.357G>C (p.Glu119Asp)
c.461G>C (p.Ser154Thr)
 ClinVar
1g.179559679C>TCA422025891NPHS2c.534G>A (p.Glu178=)
c.357G>A (p.Glu119=)
c.461G>A (p.Ser154Asn)
 gnomAD v4
1g.179559680T>ACA343568686NPHS2c.533A>T (p.Glu178Val)
c.356A>T (p.Glu119Val)
c.460A>T (p.Ser154Cys)
1g.179559680T>CCA343568690NPHS2c.533A>G (p.Glu178Gly)
c.356A>G (p.Glu119Gly)
c.460A>G (p.Ser154Gly)
 gnomAD v4
1g.179559680T>GCA343568688NPHS2c.533A>C (p.Glu178Ala)
c.356A>C (p.Glu119Ala)
c.460A>C (p.Ser154Arg)
1g.179559681C>ACA343568692NPHS2c.532G>T (p.Glu178Ter)
c.355G>T (p.Glu119Ter)
c.459G>T (p.Met153Ile)
 gnomAD v4
1g.179559681C>GCA343568694NPHS2c.532G>C (p.Glu178Gln)
c.355G>C (p.Glu119Gln)
c.459G>C (p.Met153Ile)
1g.179559681C>TCA343568696NPHS2c.532G>A (p.Glu178Lys)
c.355G>A (p.Glu119Lys)
c.459G>A (p.Met153Ile)
 gnomAD v4
1g.179559682A=CA1210320273NPHS2c.531T= (p.His177=)
c.354T= (p.His118=)
c.458T= (p.Met153=)
1g.179559682A>CCA343568699NPHS2c.531T>G (p.His177Gln)
c.354T>G (p.His118Gln)
c.458T>G (p.Met153Arg)
1g.179559682A>GCA422025892NPHS2c.531T>C (p.His177=)
c.354T>C (p.His118=)
c.458T>C (p.Met153Thr)
 ClinVar dbSNP gnomAD v4
1g.179559682A>TCA343568700NPHS2c.531T>A (p.His177Gln)
c.354T>A (p.His118Gln)
c.458T>A (p.Met153Lys)
 gnomAD v4
1g.179559682delinsCACCA2586967784NPHS2c.531delinsGTG (p.His177GlnfsTer5)
c.531delinsGTG (p.His177GlnfsTer9)
c.354delinsGTG (p.His118GlnfsTer5)
c.458delinsGTG (p.Met153SerfsTer6)
c.531delinsGTG (p.His177GlnfsTer?)
1g.179559683T>ACA343568704NPHS2c.530A>T (p.His177Leu)
c.353A>T (p.His118Leu)
c.457A>T (p.Met153Leu)
 gnomAD v4
1g.179559683T>CCA343568706NPHS2c.530A>G (p.His177Arg)
c.353A>G (p.His118Arg)
c.457A>G (p.Met153Val)
1g.179559683T>GCA343568709NPHS2c.530A>C (p.His177Pro)
c.353A>C (p.His118Pro)
c.457A>C (p.Met153Leu)
 COSMIC
1g.179559684G>ACA343568712NPHS2c.529C>T (p.His177Tyr)
c.352C>T (p.His118Tyr)
c.456C>T (p.Phe152=)
1g.179559684G>CCA343568714NPHS2c.529C>G (p.His177Asp)
c.352C>G (p.His118Asp)
c.456C>G (p.Phe152Leu)
1g.179559684G>TCA343568717NPHS2c.529C>A (p.His177Asn)
c.352C>A (p.His118Asn)
c.456C>A (p.Phe152Leu)
 gnomAD v4
1g.179559684_179559685delCA2580061536NPHS2c.528_529del (p.Phe176LeufsTer2)
c.351_352del (p.Phe117LeufsTer2)
c.455_456del (p.Phe152TyrfsTer3)
 ClinVar
1g.179559685A=CA1210320274NPHS2c.528T= (p.Phe176=)
c.351T= (p.Phe117=)
c.455T= (p.Phe152=)
1g.179559685A>CCA343568724NPHS2c.528T>G (p.Phe176Leu)
c.351T>G (p.Phe117Leu)
c.455T>G (p.Phe152Cys)
1g.179559685A>GCA422025894NPHS2c.528T>C (p.Phe176=)
c.351T>C (p.Phe117=)
c.455T>C (p.Phe152Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.179559685A>TCA343568722NPHS2c.528T>A (p.Phe176Leu)
c.351T>A (p.Phe117Leu)
c.455T>A (p.Phe152Tyr)
1g.179559688delCA2649315963NPHS2c.528del (p.His177MetfsTer4)
c.528del (p.His177MetfsTer8)
c.351del (p.His118MetfsTer4)
c.455del (p.Phe152SerfsTer2)
c.528del (p.His177MetfsTer?)
 gnomAD v4
1g.179559686A>CCA343568729NPHS2c.527T>G (p.Phe176Cys)
c.350T>G (p.Phe117Cys)
c.454T>G (p.Phe152Val)
1g.179559686A>GCA343568731NPHS2c.527T>C (p.Phe176Ser)
c.350T>C (p.Phe117Ser)
c.454T>C (p.Phe152Leu)
1g.179559686A>TCA343568733NPHS2c.527T>A (p.Phe176Tyr)
c.350T>A (p.Phe117Tyr)
c.454T>A (p.Phe152Ile)
1g.179559686_179559688delinsTCA2580061537NPHS2c.525_527delinsA (p.Phe176SerfsTer2)
c.348_350delinsA (p.Phe117SerfsTer2)
c.452_454delinsA (p.Leu151HisfsTer4)
 ClinVar
1g.179559687A>CCA343568737NPHS2c.526T>G (p.Phe176Val)
c.349T>G (p.Phe117Val)
c.453T>G (p.Leu151=)
1g.179559687A>GCA343568739NPHS2c.526T>C (p.Phe176Leu)
c.349T>C (p.Phe117Leu)
c.453T>C (p.Leu151=)
 gnomAD v4
1g.179559687A>TCA343568742NPHS2c.526T>A (p.Phe176Ile)
c.349T>A (p.Phe117Ile)
c.453T>A (p.Leu151=)
1g.179559688A=CA1210320275NPHS2c.525T= (p.Pro175=)
c.348T= (p.Pro116=)
c.452T= (p.Leu151=)
1g.179559688A>CCA1267196NPHS2c.525T>G (p.Pro175=)
c.348T>G (p.Pro116=)
c.452T>G (p.Leu151Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.179559688A>GCA422025902NPHS2c.525T>C (p.Pro175=)
c.348T>C (p.Pro116=)
c.452T>C (p.Leu151Pro)
 dbSNP gnomAD v4
1g.179559688A>TCA422025899NPHS2c.525T>A (p.Pro175=)
c.348T>A (p.Pro116=)
c.452T>A (p.Leu151His)
 gnomAD v4
1g.179559689G>ACA343568749NPHS2c.524C>T (p.Pro175Leu)
c.347C>T (p.Pro116Leu)
c.451C>T (p.Leu151Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.179559689G>CCA343568753NPHS2c.524C>G (p.Pro175Arg)
c.347C>G (p.Pro116Arg)
c.451C>G (p.Leu151Val)
1g.179559689G=CA1210320276NPHS2c.524C= (p.Pro175=)
c.347C= (p.Pro116=)
c.451C= (p.Leu151=)
1g.179559689G>TCA343568750NPHS2c.524C>A (p.Pro175His)
c.347C>A (p.Pro116His)
c.451C>A (p.Leu151Ile)
 ClinVar gnomAD v4 COSMIC
1g.179559689_179559691delinsACACA2586967785NPHS2c.522_524delinsTGT (p.Pro175Val)
c.345_347delinsTGT (p.Pro116Val)
c.449_451delinsTGT (p.Tyr150_Leu151delinsLeuPhe)
1g.179559690G>ACA343568756NPHS2c.523C>T (p.Pro175Ser)
c.346C>T (p.Pro116Ser)
c.450C>T (p.Tyr150=)
 ClinVar dbSNP gnomAD v4
1g.179559690G>CCA343568757NPHS2c.523C>G (p.Pro175Ala)
c.346C>G (p.Pro116Ala)
c.450C>G (p.Tyr150Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.179559690G=CA1210320277NPHS2c.523C= (p.Pro175=)
c.346C= (p.Pro116=)
c.450C= (p.Tyr150=)
1g.179559690G>TCA343568758NPHS2c.523C>A (p.Pro175Thr)
c.346C>A (p.Pro116Thr)
c.450C>A (p.Tyr150Ter)
 ClinVar gnomAD v4
1g.179559691T>ACA422025904NPHS2c.522A>T (p.Ile174=)
c.345A>T (p.Ile115=)
c.449A>T (p.Tyr150Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.179559691T>CCA343568759NPHS2c.522A>G (p.Ile174Met)
c.345A>G (p.Ile115Met)
c.449A>G (p.Tyr150Cys)
1g.179559691T>GCA422025905NPHS2c.522A>C (p.Ile174=)
c.345A>C (p.Ile115=)
c.449A>C (p.Tyr150Ser)
1g.179559691T=CA1210320278NPHS2c.522A= (p.Ile174=)
c.345A= (p.Ile115=)
c.449A= (p.Tyr150=)
1g.179559691dupCA2499214327NPHS2c.522dup (p.Pro175ThrfsTer4)
c.345dup (p.Pro116ThrfsTer4)
c.449dup (p.Tyr150Ter)
 ClinVar dbSNP gnomAD v4
1g.179559692A=CA1210320279NPHS2c.521T= (p.Ile174=)
c.344T= (p.Ile115=)
c.448T= (p.Tyr150=)
1g.179559692A>CCA343568761NPHS2c.521T>G (p.Ile174Arg)
c.344T>G (p.Ile115Arg)
c.448T>G (p.Tyr150Asp)
1g.179559692A>GCA343568764NPHS2c.521T>C (p.Ile174Thr)
c.344T>C (p.Ile115Thr)
c.448T>C (p.Tyr150His)
 dbSNP gnomAD v4
1g.179559692A>TCA343568762NPHS2c.521T>A (p.Ile174Lys)
c.344T>A (p.Ile115Lys)
c.448T>A (p.Tyr150Asn)
1g.179559693T>ACA343568767NPHS2c.520A>T (p.Ile174Leu)
c.343A>T (p.Ile115Leu)
c.447A>T (p.Arg149Ser)
 gnomAD v4
1g.179559693T>CCA343568769NPHS2c.520A>G (p.Ile174Val)
c.343A>G (p.Ile115Val)
c.447A>G (p.Arg149=)
1g.179559693T>GCA343568771NPHS2c.520A>C (p.Ile174Leu)
c.343A>C (p.Ile115Leu)
c.447A>C (p.Arg149Ser)
1g.179559694C>ACA343568774NPHS2c.519G>T (p.Glu173Asp)
c.342G>T (p.Glu114Asp)
c.446G>T (p.Arg149Ile)
 gnomAD v4
1g.179559694C>GCA343568776NPHS2c.519G>C (p.Glu173Asp)
c.342G>C (p.Glu114Asp)
c.446G>C (p.Arg149Thr)
1g.179559694C>TCA422025907NPHS2c.519G>A (p.Glu173=)
c.342G>A (p.Glu114=)
c.446G>A (p.Arg149Lys)
 COSMIC
1g.179559695T>ACA343568779NPHS2c.518A>T (p.Glu173Val)
c.341A>T (p.Glu114Val)
c.445A>T (p.Arg149Ter)
1g.179559695T>CCA343568783NPHS2c.518A>G (p.Glu173Gly)
c.341A>G (p.Glu114Gly)
c.445A>G (p.Arg149Gly)
 gnomAD v4
1g.179559695T>GCA343568785NPHS2c.518A>C (p.Glu173Ala)
c.341A>C (p.Glu114Ala)
c.445A>C (p.Arg149=)
1g.179559696C>ACA343568788NPHS2c.517G>T (p.Glu173Ter)
c.340G>T (p.Glu114Ter)
c.444G>T (p.Trp148Cys)
 gnomAD v4
1g.179559696C>GCA343568790NPHS2c.517G>C (p.Glu173Gln)
c.340G>C (p.Glu114Gln)
c.444G>C (p.Trp148Cys)
1g.179559696C>TCA343568792NPHS2c.517G>A (p.Glu173Lys)
c.340G>A (p.Glu114Lys)
c.444G>A (p.Trp148Ter)
1g.179559697delCA2649315971NPHS2c.517del (p.Glu173ArgfsTer8)
c.517del (p.Glu173ArgfsTer12)
c.340del (p.Glu114ArgfsTer8)
c.444del (p.Trp148Ter)
c.517del (p.Glu173ArgfsTer?)
 gnomAD v4
1g.179559697C>ACA422025909NPHS2c.516G>T (p.Leu172=)
c.339G>T (p.Leu113=)
c.443G>T (p.Trp148Leu)
 gnomAD v4
1g.179559697C>GCA422025910NPHS2c.516G>C (p.Leu172=)
c.339G>C (p.Leu113=)
c.443G>C (p.Trp148Ser)
 gnomAD v4
1g.179559697C>TCA422025911NPHS2c.516G>A (p.Leu172=)
c.339G>A (p.Leu113=)
c.443G>A (p.Trp148Ter)
 gnomAD v4
1g.179559698A>CCA343568799NPHS2c.515T>G (p.Leu172Arg)
c.338T>G (p.Leu113Arg)
c.442T>G (p.Trp148Gly)
1g.179559698A>GCA343568797NPHS2c.515T>C (p.Leu172Pro)
c.338T>C (p.Leu113Pro)
c.442T>C (p.Trp148Arg)
 gnomAD v4
1g.179559698A>TCA343568795NPHS2c.515T>A (p.Leu172Gln)
c.338T>A (p.Leu113Gln)
c.442T>A (p.Trp148Arg)
1g.179559699G>ACA422025914NPHS2c.514C>T (p.Leu172=)
c.337C>T (p.Leu113=)
c.441C>T (p.Leu147=)
 gnomAD v4 COSMIC
1g.179559699G>CCA343568801NPHS2c.514C>G (p.Leu172Val)
c.337C>G (p.Leu113Val)
c.441C>G (p.Leu147=)
1g.179559699G>TCA343568803NPHS2c.514C>A (p.Leu172Met)
c.337C>A (p.Leu113Met)
c.441C>A (p.Leu147=)
 gnomAD v4
1g.179559700A=CA1210320280NPHS2c.513T= (p.Thr171=)
c.336T= (p.Thr112=)
c.440T= (p.Leu147=)
1g.179559700A>CCA422025917NPHS2c.513T>G (p.Thr171=)
c.336T>G (p.Thr112=)
c.440T>G (p.Leu147Arg)
1g.179559700A>GCA1267197NPHS2c.513T>C (p.Thr171=)
c.336T>C (p.Thr112=)
c.440T>C (p.Leu147Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.179559700A>TCA422025918NPHS2c.513T>A (p.Thr171=)
c.336T>A (p.Thr112=)
c.440T>A (p.Leu147His)
1g.179559701G>ACA343568806NPHS2c.512C>T (p.Thr171Ile)
c.335C>T (p.Thr112Ile)
c.439C>T (p.Leu147Phe)
1g.179559701G>CCA343568808NPHS2c.512C>G (p.Thr171Ser)
c.335C>G (p.Thr112Ser)
c.439C>G (p.Leu147Val)
1g.179559701G>TCA343568810NPHS2c.512C>A (p.Thr171Asn)
c.335C>A (p.Thr112Asn)
c.439C>A (p.Leu147Ile)
 gnomAD v4
1g.179559702T>ACA343568811NPHS2c.511A>T (p.Thr171Ser)
c.334A>T (p.Thr112Ser)
c.438A>T (p.Lys146Asn)
1g.179559702T>CCA343568814NPHS2c.511A>G (p.Thr171Ala)
c.334A>G (p.Thr112Ala)
c.438A>G (p.Lys146=)
1g.179559702T>GCA343568816NPHS2c.511A>C (p.Thr171Pro)
c.334A>C (p.Thr112Pro)
c.438A>C (p.Lys146Asn)
1g.179559703T>ACA343568819NPHS2c.510A>T (p.Gln170His)
c.333A>T (p.Gln111His)
c.437A>T (p.Lys146Ile)
1g.179559703T>CCA422025922NPHS2c.510A>G (p.Gln170=)
c.333A>G (p.Gln111=)
c.437A>G (p.Lys146Arg)
 gnomAD v4
1g.179559703T>GCA343568821NPHS2c.510A>C (p.Gln170His)
c.333A>C (p.Gln111His)
c.437A>C (p.Lys146Thr)
 gnomAD v4
1g.179559704T>ACA343568823NPHS2c.509A>T (p.Gln170Leu)
c.332A>T (p.Gln111Leu)
c.436A>T (p.Lys146Ter)
1g.179559704T>CCA343568825NPHS2c.509A>G (p.Gln170Arg)
c.332A>G (p.Gln111Arg)
c.436A>G (p.Lys146Glu)
1g.179559704T>GCA33699658NPHS2c.509A>C (p.Gln170Pro)
c.332A>C (p.Gln111Pro)
c.436A>C (p.Lys146Gln)
 dbSNP gnomAD v4
1g.179559704T=CA1210320281NPHS2c.509A= (p.Gln170=)
c.332A= (p.Gln111=)
c.436A= (p.Lys146=)
1g.179559705G>ACA343568832NPHS2c.508C>T (p.Gln170Ter)
c.331C>T (p.Gln111Ter)
c.435C>T (p.Ser145=)
1g.179559705G>CCA343568830NPHS2c.508C>G (p.Gln170Glu)
c.331C>G (p.Gln111Glu)
c.435C>G (p.Ser145=)
1g.179559705G>TCA343568829NPHS2c.508C>A (p.Gln170Lys)
c.331C>A (p.Gln111Lys)
c.435C>A (p.Ser145=)
 gnomAD v4
1g.179559706G>ACA422025926NPHS2c.507C>T (p.Leu169=)
c.330C>T (p.Leu110=)
c.434C>T (p.Ser145Phe)
 gnomAD v4
1g.179559706G>CCA422025924NPHS2c.507C>G (p.Leu169=)
c.330C>G (p.Leu110=)
c.434C>G (p.Ser145Cys)
1g.179559706G>TCA422025925NPHS2c.507C>A (p.Leu169=)
c.330C>A (p.Leu110=)
c.434C>A (p.Ser145Tyr)
1g.179559707A=CA1210320282NPHS2c.506T= (p.Leu169=)
c.329T= (p.Leu110=)
c.433T= (p.Ser145=)
1g.179559707A>CCA343568835NPHS2c.506T>G (p.Leu169Arg)
c.329T>G (p.Leu110Arg)
c.433T>G (p.Ser145Ala)
1g.179559707A>GCA1267198NPHS2c.506T>C (p.Leu169Pro)
c.329T>C (p.Leu110Pro)
c.433T>C (p.Ser145Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.179559707A>TCA343568839NPHS2c.506T>A (p.Leu169His)
c.329T>A (p.Leu110His)
c.433T>A (p.Ser145Thr)
 gnomAD v4
1g.179559708G>ACA343568841NPHS2c.505C>T (p.Leu169Phe)
c.328C>T (p.Leu110Phe)
c.432C>T (p.Val144=)
1g.179559708G>CCA343568843NPHS2c.505C>G (p.Leu169Val)
c.328C>G (p.Leu110Val)
c.432C>G (p.Val144=)
1g.179559708G>TCA343568844NPHS2c.505C>A (p.Leu169Ile)
c.328C>A (p.Leu110Ile)
c.432C>A (p.Val144=)
 gnomAD v4
1g.179559709A>CCA422025928NPHS2c.504T>G (p.Arg168=)
c.327T>G (p.Arg109=)
c.431T>G (p.Val144Gly)
1g.179559709A>GCA422025929NPHS2c.504T>C (p.Arg168=)
c.327T>C (p.Arg109=)
c.431T>C (p.Val144Ala)
 ClinVar gnomAD v4
1g.179559709A>TCA422025927NPHS2c.504T>A (p.Arg168=)
c.327T>A (p.Arg109=)
c.431T>A (p.Val144Asp)
1g.179559710delCA2586967786NPHS2c.503del (p.Arg168LeufsTer13)
c.503del (p.Arg168LeufsTer17)
c.326del (p.Arg109LeufsTer13)
c.430del (p.Val144SerfsTer10)
c.503del (p.Arg168LeufsTer?)
1g.179559710C>ACA343568846NPHS2c.503G>T (p.Arg168Leu)
c.326G>T (p.Arg109Leu)
c.430G>T (p.Val144Phe)
 gnomAD v4
1g.179559710C=CA1144468076NPHS2c.503G= (p.Arg168=)
c.326G= (p.Arg109=)
c.430G= (p.Val144=)
1g.179559710C>GCA343568848NPHS2c.503G>C (p.Arg168Pro)
c.326G>C (p.Arg109Pro)
c.430G>C (p.Val144Leu)
 gnomAD v4
1g.179559710C>TCA199046NPHS2c.503G>A (p.Arg168His)
c.326G>A (p.Arg109His)
c.430G>A (p.Val144Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.179559711G>ACA199102NPHS2c.502C>T (p.Arg168Cys)
c.325C>T (p.Arg109Cys)
c.429C>T (p.Phe143=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.179559711G>CCA343568852NPHS2c.502C>G (p.Arg168Gly)
c.325C>G (p.Arg109Gly)
c.429C>G (p.Phe143Leu)
1g.179559711G=CA1210320283NPHS2c.502C= (p.Arg168=)
c.325C= (p.Arg109=)
c.429C= (p.Phe143=)
1g.179559711G>TCA343568854NPHS2c.502C>A (p.Arg168Ser)
c.325C>A (p.Arg109Ser)
c.429C>A (p.Phe143Leu)
 gnomAD v4
1g.179559712A>CCA422025930NPHS2c.501T>G (p.Leu167=)
c.324T>G (p.Leu108=)
c.428T>G (p.Phe143Cys)
1g.179559712A>GCA422025931NPHS2c.501T>C (p.Leu167=)
c.324T>C (p.Leu108=)
c.428T>C (p.Phe143Ser)
1g.179559712A>TCA422025933NPHS2c.501T>A (p.Leu167=)
c.324T>A (p.Leu108=)
c.428T>A (p.Phe143Tyr)
1g.179559713A>CCA343568861NPHS2c.500T>G (p.Leu167Arg)
c.323T>G (p.Leu108Arg)
c.427T>G (p.Phe143Val)
1g.179559713A>GCA343568858NPHS2c.500T>C (p.Leu167Pro)
c.323T>C (p.Leu108Pro)
c.427T>C (p.Phe143Leu)
1g.179559713A>TCA343568857NPHS2c.500T>A (p.Leu167His)
c.323T>A (p.Leu108His)
c.427T>A (p.Phe143Ile)
 gnomAD v4
1g.179559714G>ACA343568863NPHS2c.499C>T (p.Leu167Phe)
c.322C>T (p.Leu108Phe)
c.426C>T (p.Thr142=)
 gnomAD v4
1g.179559714G>CCA343568865NPHS2c.499C>G (p.Leu167Val)
c.322C>G (p.Leu108Val)
c.426C>G (p.Thr142=)
1g.179559714G>TCA343568867NPHS2c.499C>A (p.Leu167Ile)
c.322C>A (p.Leu108Ile)
c.426C>A (p.Thr142=)
 gnomAD v4
1g.179559715dupCA2649315974NPHS2c.499dup (p.Leu167ProfsTer12)
c.322dup (p.Leu108ProfsTer12)
c.426dup (p.Phe143LeufsTer13)
 gnomAD v4
1g.179559715G>ACA422025934NPHS2c.498C>T (p.Asp166=)
c.321C>T (p.Asp107=)
c.425C>T (p.Thr142Ile)
 ClinVar gnomAD v4
1g.179559715G>CCA343568868NPHS2c.498C>G (p.Asp166Glu)
c.321C>G (p.Asp107Glu)
c.425C>G (p.Thr142Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.179559715G=CA1210320284NPHS2c.498C= (p.Asp166=)
c.321C= (p.Asp107=)
c.425C= (p.Thr142=)
1g.179559715G>TCA33699679NPHS2c.498C>A (p.Asp166Glu)
c.321C>A (p.Asp107Glu)
c.425C>A (p.Thr142Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.179559716T>ACA343568877NPHS2c.497A>T (p.Asp166Val)
c.320A>T (p.Asp107Val)
c.424A>T (p.Thr142Ser)
 gnomAD v4
1g.179559716T>CCA343568874NPHS2c.497A>G (p.Asp166Gly)
c.320A>G (p.Asp107Gly)
c.424A>G (p.Thr142Ala)
1g.179559716T>GCA343568872NPHS2c.497A>C (p.Asp166Ala)
c.320A>C (p.Asp107Ala)
c.424A>C (p.Thr142Pro)
1g.179559717delCA2649315975NPHS2c.496del (p.Asp166ThrfsTer15)
c.496del (p.Asp166ThrfsTer19)
c.319del (p.Asp107ThrfsTer15)
c.423del (p.Thr142ProfsTer12)
c.496del (p.Asp166ThrfsTer?)
 gnomAD v4
1g.179559717C>ACA343568880NPHS2c.496G>T (p.Asp166Tyr)
c.319G>T (p.Asp107Tyr)
c.423G>T (p.Leu141Phe)
 gnomAD v4 COSMIC
1g.179559717C>GCA343568882NPHS2c.496G>C (p.Asp166His)
c.319G>C (p.Asp107His)
c.423G>C (p.Leu141Phe)
1g.179559717C>TCA343568884NPHS2c.496G>A (p.Asp166Asn)
c.319G>A (p.Asp107Asn)
c.423G>A (p.Leu141=)
 gnomAD v4
1g.179559718A=CA1210320285NPHS2c.495T= (p.Val165=)
c.318T= (p.Val106=)
c.422T= (p.Leu141=)
1g.179559718A>CCA422025935NPHS2c.495T>G (p.Val165=)
c.318T>G (p.Val106=)
c.422T>G (p.Leu141Trp)
 dbSNP gnomAD v4
1g.179559718A>GCA422025936NPHS2c.495T>C (p.Val165=)
c.318T>C (p.Val106=)
c.422T>C (p.Leu141Ser)
 gnomAD v4
1g.179559718A>TCA422025937NPHS2c.495T>A (p.Val165=)
c.318T>A (p.Val106=)
c.422T>A (p.Leu141Ter)
1g.179559719A=CA1210320286NPHS2c.494T= (p.Val165=)
c.317T= (p.Val106=)
c.421T= (p.Leu141=)
1g.179559719A>CCA343568887NPHS2c.494T>G (p.Val165Gly)
c.317T>G (p.Val106Gly)
c.421T>G (p.Leu141Val)
1g.179559719A>GCA1267199NPHS2c.494T>C (p.Val165Ala)
c.317T>C (p.Val106Ala)
c.421T>C (p.Leu141=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.179559719A>TCA343568890NPHS2c.494T>A (p.Val165Asp)
c.317T>A (p.Val106Asp)
c.421T>A (p.Leu141Met)
1g.179559720C>ACA343568893NPHS2c.493G>T (p.Val165Phe)
c.316G>T (p.Val106Phe)
c.420G>T (p.Arg140Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.179559720C=CA1210320287NPHS2c.493G= (p.Val165=)
c.316G= (p.Val106=)
c.420G= (p.Arg140=)
1g.179559720C>GCA343568896NPHS2c.493G>C (p.Val165Leu)
c.316G>C (p.Val106Leu)
c.420G>C (p.Arg140Ser)
1g.179559720C>TCA343568895NPHS2c.493G>A (p.Val165Ile)
c.316G>A (p.Val106Ile)
c.420G>A (p.Arg140=)
1g.179559721C>ACA343568899NPHS2c.492G>T (p.Lys164Asn)
c.315G>T (p.Lys105Asn)
c.419G>T (p.Arg140Met)
 gnomAD v4
1g.179559721C=CA1210320288NPHS2c.492G= (p.Lys164=)
c.315G= (p.Lys105=)
c.419G= (p.Arg140=)
1g.179559721C>GCA343568901NPHS2c.492G>C (p.Lys164Asn)
c.315G>C (p.Lys105Asn)
c.419G>C (p.Arg140Thr)
1g.179559721C>TCA422025939NPHS2c.492G>A (p.Lys164=)
c.315G>A (p.Lys105=)
c.419G>A (p.Arg140Lys)
 dbSNP gnomAD v2 gnomAD v4
1g.179559722T>ACA343568903NPHS2c.491A>T (p.Lys164Met)
c.314A>T (p.Lys105Met)
c.418A>T (p.Arg140Trp)
1g.179559722T>CCA343568905NPHS2c.491A>G (p.Lys164Arg)
c.314A>G (p.Lys105Arg)
c.418A>G (p.Arg140Gly)
 dbSNP gnomAD v4
1g.179559722T>GCA343568907NPHS2c.491A>C (p.Lys164Thr)
c.314A>C (p.Lys105Thr)
c.418A>C (p.Arg140=)
1g.179559722T=CA1210320289NPHS2c.491A= (p.Lys164=)
c.314A= (p.Lys105=)
c.418A= (p.Arg140=)
1g.179559723T>ACA343568909NPHS2c.490A>T (p.Lys164Ter)
c.313A>T (p.Lys105Ter)
c.417A>T (p.Thr139=)
1g.179559723T>CCA343568910NPHS2c.490A>G (p.Lys164Glu)
c.313A>G (p.Lys105Glu)
c.417A>G (p.Thr139=)
 gnomAD v4
1g.179559723T>GCA343568912NPHS2c.490A>C (p.Lys164Gln)
c.313A>C (p.Lys105Gln)
c.417A>C (p.Thr139=)
1g.179559725_179559726delCA2573959080NPHS2c.489_490del (p.His163GlnfsTer3)
c.312_313del (p.His104GlnfsTer3)
c.416_417del (p.Thr139LysfsTer16)
1g.179559724G>ACA422025941NPHS2c.489C>T (p.His163=)
c.312C>T (p.His104=)
c.416C>T (p.Thr139Ile)
 gnomAD v4
1g.179559724G>CCA343568913NPHS2c.489C>G (p.His163Gln)
c.312C>G (p.His104Gln)
c.416C>G (p.Thr139Arg)
1g.179559724G>TCA343568915NPHS2c.489C>A (p.His163Gln)
c.312C>A (p.His104Gln)
c.416C>A (p.Thr139Lys)
1g.179559725T>ACA343568922NPHS2c.488A>T (p.His163Leu)
c.311A>T (p.His104Leu)
c.415A>T (p.Thr139Ser)
1g.179559725T>CCA343568920NPHS2c.488A>G (p.His163Arg)
c.311A>G (p.His104Arg)
c.415A>G (p.Thr139Ala)
 gnomAD v4
1g.179559725T>GCA343568918NPHS2c.488A>C (p.His163Pro)
c.311A>C (p.His104Pro)
c.415A>C (p.Thr139Pro)
1g.179559726G>ACA343568925NPHS2c.487C>T (p.His163Tyr)
c.310C>T (p.His104Tyr)
c.414C>T (p.Thr138=)
 dbSNP gnomAD v2 gnomAD v4
1g.179559726G>CCA343568929NPHS2c.487C>G (p.His163Asp)
c.310C>G (p.His104Asp)
c.414C>G (p.Thr138=)
1g.179559726G=CA1210320290NPHS2c.487C= (p.His163=)
c.310C= (p.His104=)
c.414C= (p.Thr138=)
1g.179559726G>TCA343568928NPHS2c.487C>A (p.His163Asn)
c.310C>A (p.His104Asn)
c.414C>A (p.Thr138=)
 gnomAD v4
1g.179559727G>ACA422025942NPHS2c.486C>T (p.Tyr162=)
c.309C>T (p.Tyr103=)
c.413C>T (p.Thr138Ile)
 gnomAD v4
1g.179559727G>CCA343568931NPHS2c.486C>G (p.Tyr162Ter)
c.309C>G (p.Tyr103Ter)
c.413C>G (p.Thr138Ser)
 dbSNP gnomAD v2
1g.179559727G=CA1210320291NPHS2c.486C= (p.Tyr162=)
c.309C= (p.Tyr103=)
c.413C= (p.Thr138=)
1g.179559727G>TCA343568933NPHS2c.486C>A (p.Tyr162Ter)
c.309C>A (p.Tyr103Ter)
c.413C>A (p.Thr138Asn)
 ClinVar dbSNP
1g.179559728delCA2649315976NPHS2c.485del (p.Tyr162SerfsTer19)
c.485del (p.Tyr162SerfsTer23)
c.308del (p.Tyr103SerfsTer19)
c.412del (p.Thr138ProfsTer4)
c.485del (p.Tyr162SerfsTer?)
 gnomAD v4
1g.179559728T>ACA343568937NPHS2c.485A>T (p.Tyr162Phe)
c.308A>T (p.Tyr103Phe)
c.412A>T (p.Thr138Ser)
1g.179559728T>CCA343568938NPHS2c.485A>G (p.Tyr162Cys)
c.308A>G (p.Tyr103Cys)
c.412A>G (p.Thr138Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.179559728T>GCA343568940NPHS2c.485A>C (p.Tyr162Ser)
c.308A>C (p.Tyr103Ser)
c.412A>C (p.Thr138Pro)
1g.179559728T=CA1210320292NPHS2c.485A= (p.Tyr162=)
c.308A= (p.Tyr103=)
c.412A= (p.Thr138=)
1g.179559729A>CCA343568944NPHS2c.484T>G (p.Tyr162Asp)
c.307T>G (p.Tyr103Asp)
c.411T>G (p.Pro137=)
1g.179559729A>GCA343568945NPHS2c.484T>C (p.Tyr162His)
c.307T>C (p.Tyr103His)
c.411T>C (p.Pro137=)
 gnomAD v4
1g.179559729A>TCA343568947NPHS2c.484T>A (p.Tyr162Asn)
c.307T>A (p.Tyr103Asn)
c.411T>A (p.Pro137=)
 gnomAD v4
1g.179559729_179559730delinsAGCA1210320293NPHS2c.483_484delinsCT (p.Thr161=)
c.306_307delinsCT (p.Thr102=)
c.410_411delinsCT (p.Pro137=)
1g.179559730G>ACA422025943NPHS2c.483C>T (p.Thr161=)
c.306C>T (p.Thr102=)
c.410C>T (p.Pro137Leu)
 ClinVar dbSNP
1g.179559730G>CCA1267201NPHS2c.483C>G (p.Thr161=)
c.306C>G (p.Thr102=)
c.410C>G (p.Pro137Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.179559730G=CA1210320294NPHS2c.483C= (p.Thr161=)
c.306C= (p.Thr102=)
c.410C= (p.Pro137=)
1g.179559730G>TCA10608315NPHS2c.483C>A (p.Thr161=)
c.306C>A (p.Thr102=)
c.410C>A (p.Pro137His)
 ClinVar dbSNP gnomAD v4
1g.179559731delCA1267200NPHS2c.483del (p.Tyr162ThrfsTer19)
c.483del (p.Tyr162ThrfsTer23)
c.306del (p.Tyr103ThrfsTer19)
c.410del (p.Pro137LeufsTer5)
c.483del (p.Tyr162ThrfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.179559731G>ACA343568954NPHS2c.482C>T (p.Thr161Ile)
c.305C>T (p.Thr102Ile)
c.409C>T (p.Pro137Ser)
 gnomAD v4
1g.179559731G>CCA343568956NPHS2c.482C>G (p.Thr161Ser)
c.305C>G (p.Thr102Ser)
c.409C>G (p.Pro137Ala)
 gnomAD v4
1g.179559731G=CA1210320295NPHS2c.482C= (p.Thr161=)
c.305C= (p.Thr102=)
c.409C= (p.Pro137=)
1g.179559731G>TCA1267202NPHS2c.482C>A (p.Thr161Asn)
c.305C>A (p.Thr102Asn)
c.409C>A (p.Pro137Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.179559732T>ACA343568965NPHS2c.481A>T (p.Thr161Ser)
c.304A>T (p.Thr102Ser)
c.408A>T (p.Ile136=)
1g.179559732T>CCA343568961NPHS2c.481A>G (p.Thr161Ala)
c.304A>G (p.Thr102Ala)
c.408A>G (p.Ile136Met)
 gnomAD v4
1g.179559732T>GCA343568963NPHS2c.481A>C (p.Thr161Pro)
c.304A>C (p.Thr102Pro)
c.408A>C (p.Ile136=)
 dbSNP gnomAD v4
1g.179559732T=CA1210320296NPHS2c.481A= (p.Thr161=)
c.304A= (p.Thr102=)
c.408A= (p.Ile136=)
1g.179559733A>CCA343568968NPHS2c.480T>G (p.Asp160Glu)
c.303T>G (p.Asp101Glu)
c.407T>G (p.Ile136Arg)
1g.179559733A>GCA422025944NPHS2c.480T>C (p.Asp160=)
c.303T>C (p.Asp101=)
c.407T>C (p.Ile136Thr)
1g.179559733A>TCA343568969NPHS2c.480T>A (p.Asp160Glu)
c.303T>A (p.Asp101Glu)
c.407T>A (p.Ile136Lys)
1g.179559734T>ACA343568973NPHS2c.479A>T (p.Asp160Val)
c.302A>T (p.Asp101Val)
c.406A>T (p.Ile136Leu)
 ClinVar dbSNP gnomAD v4
1g.179559734T>CCA117456NPHS2c.479A>G (p.Asp160Gly)
c.302A>G (p.Asp101Gly)
c.406A>G (p.Ile136Val)
 ClinVar dbSNP
1g.179559734T>GCA343568975NPHS2c.479A>C (p.Asp160Ala)
c.302A>C (p.Asp101Ala)
c.406A>C (p.Ile136Leu)
1g.179559734T=CA1140886940NPHS2c.479A= (p.Asp160=)
c.302A= (p.Asp101=)
c.406A= (p.Ile136=)
1g.179559735C>ACA343568978NPHS2c.478G>T (p.Asp160Tyr)
c.301G>T (p.Asp101Tyr)
c.405G>T (p.Trp135Cys)
 gnomAD v4
1g.179559735C>GCA343568980NPHS2c.478G>C (p.Asp160His)
c.301G>C (p.Asp101His)
c.405G>C (p.Trp135Cys)
 gnomAD v4
1g.179559735C>TCA343568982NPHS2c.478G>A (p.Asp160Asn)
c.301G>A (p.Asp101Asn)
c.405G>A (p.Trp135Ter)
 gnomAD v4
1g.179559736C>ACA422025945NPHS2c.477G>T (p.Leu159=)
c.300G>T (p.Leu100=)
c.404G>T (p.Trp135Leu)
 gnomAD v4
1g.179559736C=CA1210320297NPHS2c.477G= (p.Leu159=)
c.300G= (p.Leu100=)
c.404G= (p.Trp135=)
1g.179559736C>GCA422025947NPHS2c.477G>C (p.Leu159=)
c.300G>C (p.Leu100=)
c.404G>C (p.Trp135Ser)
1g.179559736C>TCA422025946NPHS2c.477G>A (p.Leu159=)
c.300G>A (p.Leu100=)
c.404G>A (p.Trp135Ter)
 dbSNP gnomAD v4
1g.179559737A>CCA343568986NPHS2c.476T>G (p.Leu159Arg)
c.299T>G (p.Leu100Arg)
c.403T>G (p.Trp135Gly)
1g.179559737A>GCA343568987NPHS2c.476T>C (p.Leu159Pro)
c.299T>C (p.Leu100Pro)
c.403T>C (p.Trp135Arg)
 gnomAD v4
1g.179559737A>TCA343568988NPHS2c.476T>A (p.Leu159Gln)
c.299T>A (p.Leu100Gln)
c.403T>A (p.Trp135Arg)
 gnomAD v4
1g.179559738G>ACA422025948NPHS2c.475C>T (p.Leu159=)
c.298C>T (p.Leu100=)
c.402C>T (p.Ala134=)
 gnomAD v4
1g.179559738G>CCA343568993NPHS2c.475C>G (p.Leu159Val)
c.298C>G (p.Leu100Val)
c.402C>G (p.Ala134=)
1g.179559738G>TCA343568991NPHS2c.475C>A (p.Leu159Met)
c.298C>A (p.Leu100Met)
c.402C>A (p.Ala134=)
 gnomAD v4
1g.179559738_179559745delCA1009660112NPHS2c.468_475del (p.Leu156PhefsTer8)
c.291_298del (p.Leu97PhefsTer8)
c.395_402del (p.Cys132LeufsTer21)
 gnomAD v3 gnomAD v4
1g.179559739G>ACA422025949NPHS2c.474C>T (p.Cys158=)
c.297C>T (p.Cys99=)
c.401C>T (p.Ala134Val)
 gnomAD v4
1g.179559739G>CCA343568996NPHS2c.474C>G (p.Cys158Trp)
c.297C>G (p.Cys99Trp)
c.401C>G (p.Ala134Gly)
1g.179559739G>TCA343568997NPHS2c.474C>A (p.Cys158Ter)
c.297C>A (p.Cys99Ter)
c.401C>A (p.Ala134Asp)
 gnomAD v4
1g.179559740C>ACA343569000NPHS2c.473G>T (p.Cys158Phe)
c.296G>T (p.Cys99Phe)
c.400G>T (p.Ala134Ser)
 dbSNP gnomAD v4
1g.179559740C=CA1210320298NPHS2c.473G= (p.Cys158=)
c.296G= (p.Cys99=)
c.400G= (p.Ala134=)
1g.179559740C>GCA343569002NPHS2c.473G>C (p.Cys158Ser)
c.296G>C (p.Cys99Ser)
c.400G>C (p.Ala134Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.179559740C>TCA343569003NPHS2c.473G>A (p.Cys158Tyr)
c.296G>A (p.Cys99Tyr)
c.400G>A (p.Ala134Thr)
1g.179559741A>CCA343569005NPHS2c.472T>G (p.Cys158Gly)
c.295T>G (p.Cys99Gly)
c.399T>G (p.Pro133=)
1g.179559741A>GCA343569008NPHS2c.472T>C (p.Cys158Arg)
c.295T>C (p.Cys99Arg)
c.399T>C (p.Pro133=)
1g.179559741A>TCA343569010NPHS2c.472T>A (p.Cys158Ser)
c.295T>A (p.Cys99Ser)
c.399T>A (p.Pro133=)
1g.179559742G>ACA422025950NPHS2c.471C>T (p.Pro157=)
c.294C>T (p.Pro98=)
c.398C>T (p.Pro133Leu)
 gnomAD v4
1g.179559742G>CCA422025951NPHS2c.471C>G (p.Pro157=)
c.294C>G (p.Pro98=)
c.398C>G (p.Pro133Arg)
1g.179559742G>TCA422025952NPHS2c.471C>A (p.Pro157=)
c.294C>A (p.Pro98=)
c.398C>A (p.Pro133His)
 gnomAD v4
1g.179559743G>ACA343569013NPHS2c.470C>T (p.Pro157Leu)
c.293C>T (p.Pro98Leu)
c.397C>T (p.Pro133Ser)
 gnomAD v4
1g.179559743G>CCA343569015NPHS2c.470C>G (p.Pro157Arg)
c.293C>G (p.Pro98Arg)
c.397C>G (p.Pro133Ala)
1g.179559743G>TCA343569017NPHS2c.470C>A (p.Pro157His)
c.293C>A (p.Pro98His)
c.397C>A (p.Pro133Thr)
 gnomAD v4
1g.179559744G>ACA343569020NPHS2c.469C>T (p.Pro157Ser)
c.292C>T (p.Pro98Ser)
c.396C>T (p.Cys132=)
 gnomAD v4
1g.179559744G>CCA343569022NPHS2c.469C>G (p.Pro157Ala)
c.292C>G (p.Pro98Ala)
c.396C>G (p.Cys132Trp)
1g.179559744G>TCA343569024NPHS2c.469C>A (p.Pro157Thr)
c.292C>A (p.Pro98Thr)
c.396C>A (p.Cys132Ter)
 gnomAD v4
1g.179559745C>ACA343569027NPHS2c.468G>T (p.Leu156Phe)
c.291G>T (p.Leu97Phe)
c.395G>T (p.Cys132Phe)
 gnomAD v3 gnomAD v4
1g.179559745C=CA1210320300NPHS2c.468G= (p.Leu156=)
c.291G= (p.Leu97=)
c.395G= (p.Cys132=)
1g.179559745C>GCA343569029NPHS2c.468G>C (p.Leu156Phe)
c.291G>C (p.Leu97Phe)
c.395G>C (p.Cys132Ser)
 gnomAD v4
1g.179559745C>TCA422025953NPHS2c.468G>A (p.Leu156=)
c.291G>A (p.Leu97=)
c.395G>A (p.Cys132Tyr)
 dbSNP gnomAD v4
1g.179559745dupCA913071843NPHS2c.468dup (p.Pro157AlafsTer10)
c.291dup (p.Pro98AlafsTer10)
c.395dup (p.Cys132TrpfsTer24)
 ClinVar
1g.179559745_179559746delinsCACA1210320299NPHS2c.467_468delinsTG (p.Leu156=)
c.290_291delinsTG (p.Leu97=)
c.394_395delinsTG (p.Cys132=)

Number of alleles fetched