Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.179559612_179559631delCA2649315867NPHS2c.534+48_534+67del (n.534+48_534+67del)
c.357+48_357+67del (n.357+48_357+67del)
c.461+48_461+67del (n.461+48_461+67del)
 gnomAD v4
1g.179559614T>ACA2573958901NPHS2c.534+65A>T (n.534+65A>T)
c.357+65A>T (n.357+65A>T)
c.461+65A>T (n.461+65A>T)
1g.179559614T>CCA33699583NPHS2c.534+65A>G (n.534+65A>G)
c.357+65A>G (n.357+65A>G)
c.461+65A>G (n.461+65A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.179559614T=CA1210320247NPHS2c.534+65A= (n.534+65A=)
c.357+65A= (n.357+65A=)
c.461+65A= (n.461+65A=)
1g.179559617delCA2746821867NPHS2c.534+65del (n.534+65del)
c.357+65del (n.357+65del)
c.461+65del (n.461+65del)
1g.179559617T>CCA2649315869NPHS2c.534+62A>G (n.534+62A>G)
c.357+62A>G (n.357+62A>G)
c.461+62A>G (n.461+62A>G)
 gnomAD v4
1g.179559618G>ACA1009659972NPHS2c.534+61C>T (n.534+61C>T)
c.357+61C>T (n.357+61C>T)
c.461+61C>T (n.461+61C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.179559618G=CA1210320248NPHS2c.534+61C= (n.534+61C=)
c.357+61C= (n.357+61C=)
c.461+61C= (n.461+61C=)
1g.179559618G>TCA2573958903NPHS2c.534+61C>A (n.534+61C>A)
c.357+61C>A (n.357+61C>A)
c.461+61C>A (n.461+61C>A)
 gnomAD v4
1g.179559619T>CCA2649315873NPHS2c.534+60A>G (n.534+60A>G)
c.357+60A>G (n.357+60A>G)
c.461+60A>G (n.461+60A>G)
 gnomAD v4
1g.179559620C>TCA2649315875NPHS2c.534+59G>A (n.534+59G>A)
c.357+59G>A (n.357+59G>A)
c.461+59G>A (n.461+59G>A)
 gnomAD v4
1g.179559621C>ACA891818104NPHS2c.534+58G>T (n.534+58G>T)
c.357+58G>T (n.357+58G>T)
c.461+58G>T (n.461+58G>T)
 dbSNP gnomAD v3 gnomAD v4
1g.179559621C=CA1210320249NPHS2c.534+58G= (n.534+58G=)
c.357+58G= (n.357+58G=)
c.461+58G= (n.461+58G=)
1g.179559621C>GCA2649315879NPHS2c.534+58G>C (n.534+58G>C)
c.357+58G>C (n.357+58G>C)
c.461+58G>C (n.461+58G>C)
 gnomAD v4
1g.179559621C>TCA2649315876NPHS2c.534+58G>A (n.534+58G>A)
c.357+58G>A (n.357+58G>A)
c.461+58G>A (n.461+58G>A)
 gnomAD v4
1g.179559622A>GCA2649315881NPHS2c.534+57T>C (n.534+57T>C)
c.357+57T>C (n.357+57T>C)
c.461+57T>C (n.461+57T>C)
 gnomAD v4
1g.179559623C>ACA2649315887NPHS2c.534+56G>T (n.534+56G>T)
c.357+56G>T (n.357+56G>T)
c.461+56G>T (n.461+56G>T)
 gnomAD v4
1g.179559623C=CA1145814336NPHS2c.534+56G= (n.534+56G=)
c.357+56G= (n.357+56G=)
c.461+56G= (n.461+56G=)
1g.179559623C>TCA33699592NPHS2c.534+56G>A (n.534+56G>A)
c.357+56G>A (n.357+56G>A)
c.461+56G>A (n.461+56G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.179559624G>ACA33699607NPHS2c.534+55C>T (n.534+55C>T)
c.357+55C>T (n.357+55C>T)
c.461+55C>T (n.461+55C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.179559624G=CA1143838748NPHS2c.534+55C= (n.534+55C=)
c.357+55C= (n.357+55C=)
c.461+55C= (n.461+55C=)
1g.179559624G>TCA2649315890NPHS2c.534+55C>A (n.534+55C>A)
c.357+55C>A (n.357+55C>A)
c.461+55C>A (n.461+55C>A)
 gnomAD v4
1g.179559625G>ACA2573958910NPHS2c.534+54C>T (n.534+54C>T)
c.357+54C>T (n.357+54C>T)
c.461+54C>T (n.461+54C>T)
1g.179559625G>TCA2649315891NPHS2c.534+54C>A (n.534+54C>A)
c.357+54C>A (n.357+54C>A)
c.461+54C>A (n.461+54C>A)
 gnomAD v4
1g.179559626T>CCA1009659977NPHS2c.534+53A>G (n.534+53A>G)
c.357+53A>G (n.357+53A>G)
c.461+53A>G (n.461+53A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.179559626T>GCA2649315893NPHS2c.534+53A>C (n.534+53A>C)
c.357+53A>C (n.357+53A>C)
c.461+53A>C (n.461+53A>C)
 gnomAD v4
1g.179559626T=CA1210320250NPHS2c.534+53A= (n.534+53A=)
c.357+53A= (n.357+53A=)
c.461+53A= (n.461+53A=)
1g.179559627A>TCA2649315895NPHS2c.534+52T>A (n.534+52T>A)
c.357+52T>A (n.357+52T>A)
c.461+52T>A (n.461+52T>A)
 gnomAD v4
1g.179559628G>ACA2649315896NPHS2c.534+51C>T (n.534+51C>T)
c.357+51C>T (n.357+51C>T)
c.461+51C>T (n.461+51C>T)
 gnomAD v4
1g.179559628G>CCA1210320252NPHS2c.534+51C>G (n.534+51C>G)
c.357+51C>G (n.357+51C>G)
c.461+51C>G (n.461+51C>G)
 dbSNP gnomAD v4
1g.179559628G=CA1210320251NPHS2c.534+51C= (n.534+51C=)
c.357+51C= (n.357+51C=)
c.461+51C= (n.461+51C=)
1g.179559628G>TCA2649315898NPHS2c.534+51C>A (n.534+51C>A)
c.357+51C>A (n.357+51C>A)
c.461+51C>A (n.461+51C>A)
 gnomAD v4
1g.179559629G>ACA2649315899NPHS2c.534+50C>T (n.534+50C>T)
c.357+50C>T (n.357+50C>T)
c.461+50C>T (n.461+50C>T)
 gnomAD v4
1g.179559629G>TCA2649315901NPHS2c.534+50C>A (n.534+50C>A)
c.357+50C>A (n.357+50C>A)
c.461+50C>A (n.461+50C>A)
 gnomAD v4
1g.179559630T>CCA2649315903NPHS2c.534+49A>G (n.534+49A>G)
c.357+49A>G (n.357+49A>G)
c.461+49A>G (n.461+49A>G)
 gnomAD v4
1g.179559631A>CCA2649315904NPHS2c.534+48T>G (n.534+48T>G)
c.357+48T>G (n.357+48T>G)
c.461+48T>G (n.461+48T>G)
 gnomAD v4
1g.179559631A>TCA2649315905NPHS2c.534+48T>A (n.534+48T>A)
c.357+48T>A (n.357+48T>A)
c.461+48T>A (n.461+48T>A)
 gnomAD v4
1g.179559632G>TCA2573958942NPHS2c.534+47C>A (n.534+47C>A)
c.357+47C>A (n.357+47C>A)
c.461+47C>A (n.461+47C>A)
 gnomAD v4
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.179559635C=CA1210320253NPHS2c.534+44G= (n.534+44G=)
c.357+44G= (n.357+44G=)
c.461+44G= (n.461+44G=)
1g.179559635C>TCA527198653NPHS2c.534+44G>A (n.534+44G>A)
c.357+44G>A (n.357+44G>A)
c.461+44G>A (n.461+44G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.179559636A=CA1210320254NPHS2c.534+43T= (n.534+43T=)
c.357+43T= (n.357+43T=)
c.461+43T= (n.461+43T=)
1g.179559636A>GCA1009659985NPHS2c.534+43T>C (n.534+43T>C)
c.357+43T>C (n.357+43T>C)
c.461+43T>C (n.461+43T>C)
 dbSNP gnomAD v3 gnomAD v4
1g.179559637T>CCA2573958944NPHS2c.534+42A>G (n.534+42A>G)
c.357+42A>G (n.357+42A>G)
c.461+42A>G (n.461+42A>G)
1g.179559638G>TCA2649315909NPHS2c.534+41C>A (n.534+41C>A)
c.357+41C>A (n.357+41C>A)
c.461+41C>A (n.461+41C>A)
 gnomAD v4
1g.179559639G>ACA527198654NPHS2c.534+40C>T (n.534+40C>T)
c.357+40C>T (n.357+40C>T)
c.461+40C>T (n.461+40C>T)
 dbSNP gnomAD v2
1g.179559639G=CA1210320255NPHS2c.534+40C= (n.534+40C=)
c.357+40C= (n.357+40C=)
c.461+40C= (n.461+40C=)
1g.179559639G>TCA2649315910NPHS2c.534+40C>A (n.534+40C>A)
c.357+40C>A (n.357+40C>A)
c.461+40C>A (n.461+40C>A)
 gnomAD v4
1g.179559643delCA2649315912NPHS2c.534+39del (n.534+39del)
c.357+39del (n.357+39del)
c.461+39del (n.461+39del)
 gnomAD v4
1g.179559642A>GCA2573958953NPHS2c.534+37T>C (n.534+37T>C)
c.357+37T>C (n.357+37T>C)
c.461+37T>C (n.461+37T>C)
1g.179559643A>CCA2573959008NPHS2c.534+36T>G (n.534+36T>G)
c.357+36T>G (n.357+36T>G)
c.461+36T>G (n.461+36T>G)
1g.179559644T>CCA2586967783NPHS2c.534+35A>G (n.534+35A>G)
c.357+35A>G (n.357+35A>G)
c.461+35A>G (n.461+35A>G)
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

Number of alleles fetched