Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.179557179G>ACA199089NPHS2c.586C>T (p.Arg196Ter)
c.534+2500C>T (n.534+2500C>T)
c.409C>T (p.Arg137Ter)
c.461+2500C>T (n.461+2500C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.179557179G>CCA1267178NPHS2c.586C>G (p.Arg196Gly)
c.534+2500C>G (n.534+2500C>G)
c.409C>G (p.Arg137Gly)
c.461+2500C>G (n.461+2500C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.179557179G=CA1140407276NPHS2c.586C= (p.Arg196=)
c.534+2500C= (n.534+2500C=)
c.409C= (p.Arg137=)
c.461+2500C= (n.461+2500C=)
1g.179557179G>TCA422025801NPHS2c.586C>A (p.Arg196=)
c.534+2500C>A (n.534+2500C>A)
c.409C>A (p.Arg137=)
c.461+2500C>A (n.461+2500C>A)
 dbSNP gnomAD v2
1g.179557180delCA2580061533NPHS2c.586del (p.Arg196GlufsTer9)
c.534+2500del (n.534+2500del)
c.409del (p.Arg137GlufsTer9)
c.461+2500del (n.461+2500del)
 ClinVar gnomAD v4
1g.179557180G>ACA422025802NPHS2c.585C>T (p.Tyr195=)
c.534+2499C>T (n.534+2499C>T)
c.408C>T (p.Tyr136=)
c.461+2499C>T (n.461+2499C>T)
1g.179557180G>CCA343568105NPHS2c.585C>G (p.Tyr195Ter)
c.534+2499C>G (n.534+2499C>G)
c.408C>G (p.Tyr136Ter)
c.461+2499C>G (n.461+2499C>G)
1g.179557180G>TCA343568108NPHS2c.585C>A (p.Tyr195Ter)
c.534+2499C>A (n.534+2499C>A)
c.408C>A (p.Tyr136Ter)
c.461+2499C>A (n.461+2499C>A)
1g.179557181T>ACA343568110NPHS2c.584A>T (p.Tyr195Phe)
c.534+2498A>T (n.534+2498A>T)
c.407A>T (p.Tyr136Phe)
c.461+2498A>T (n.461+2498A>T)
1g.179557181T>CCA343568113NPHS2c.584A>G (p.Tyr195Cys)
c.534+2498A>G (n.534+2498A>G)
c.407A>G (p.Tyr136Cys)
c.461+2498A>G (n.461+2498A>G)
1g.179557181T>GCA343568115NPHS2c.584A>C (p.Tyr195Ser)
c.534+2498A>C (n.534+2498A>C)
c.407A>C (p.Tyr136Ser)
c.461+2498A>C (n.461+2498A>C)
1g.179557182A>CCA343568118NPHS2c.583T>G (p.Tyr195Asp)
c.534+2497T>G (n.534+2497T>G)
c.406T>G (p.Tyr136Asp)
c.461+2497T>G (n.461+2497T>G)
1g.179557182A>GCA343568120NPHS2c.583T>C (p.Tyr195His)
c.534+2497T>C (n.534+2497T>C)
c.406T>C (p.Tyr136His)
c.461+2497T>C (n.461+2497T>C)
 gnomAD v4
1g.179557182A>TCA343568121NPHS2c.583T>A (p.Tyr195Asn)
c.534+2497T>A (n.534+2497T>A)
c.406T>A (p.Tyr136Asn)
c.461+2497T>A (n.461+2497T>A)
1g.179557183G>ACA422025803NPHS2c.582C>T (p.Tyr194=)
c.534+2496C>T (n.534+2496C>T)
c.405C>T (p.Tyr135=)
c.461+2496C>T (n.461+2496C>T)
1g.179557183G>CCA343568123NPHS2c.582C>G (p.Tyr194Ter)
c.534+2496C>G (n.534+2496C>G)
c.405C>G (p.Tyr135Ter)
c.461+2496C>G (n.461+2496C>G)
1g.179557183G>TCA343568125NPHS2c.582C>A (p.Tyr194Ter)
c.534+2496C>A (n.534+2496C>A)
c.405C>A (p.Tyr135Ter)
c.461+2496C>A (n.461+2496C>A)
 gnomAD v4
1g.179557184T>ACA343568126NPHS2c.581A>T (p.Tyr194Phe)
c.534+2495A>T (n.534+2495A>T)
c.404A>T (p.Tyr135Phe)
c.461+2495A>T (n.461+2495A>T)
1g.179557184T>CCA343568128NPHS2c.581A>G (p.Tyr194Cys)
c.534+2495A>G (n.534+2495A>G)
c.404A>G (p.Tyr135Cys)
c.461+2495A>G (n.461+2495A>G)
 gnomAD v4
1g.179557184T>GCA343568129NPHS2c.581A>C (p.Tyr194Ser)
c.534+2495A>C (n.534+2495A>C)
c.404A>C (p.Tyr135Ser)
c.461+2495A>C (n.461+2495A>C)
1g.179557185A=CA1210319278NPHS2c.580T= (p.Tyr194=)
c.534+2494T= (n.534+2494T=)
c.403T= (p.Tyr135=)
c.461+2494T= (n.461+2494T=)
1g.179557185A>CCA343568136NPHS2c.580T>G (p.Tyr194Asp)
c.534+2494T>G (n.534+2494T>G)
c.403T>G (p.Tyr135Asp)
c.461+2494T>G (n.461+2494T>G)
 dbSNP
1g.179557185A>GCA343568134NPHS2c.580T>C (p.Tyr194His)
c.534+2494T>C (n.534+2494T>C)
c.403T>C (p.Tyr135His)
c.461+2494T>C (n.461+2494T>C)
1g.179557185A>TCA343568133NPHS2c.580T>A (p.Tyr194Asn)
c.534+2494T>A (n.534+2494T>A)
c.403T>A (p.Tyr135Asn)
c.461+2494T>A (n.461+2494T>A)
1g.179557186G>ACA422025804NPHS2c.579C>T (p.Cys193=)
c.534+2493C>T (n.534+2493C>T)
c.402C>T (p.Cys134=)
c.461+2493C>T (n.461+2493C>T)
1g.179557186G>CCA343568139NPHS2c.579C>G (p.Cys193Trp)
c.534+2493C>G (n.534+2493C>G)
c.402C>G (p.Cys134Trp)
c.461+2493C>G (n.461+2493C>G)
1g.179557186G>TCA343568140NPHS2c.579C>A (p.Cys193Ter)
c.534+2493C>A (n.534+2493C>A)
c.402C>A (p.Cys134Ter)
c.461+2493C>A (n.461+2493C>A)
1g.179557187C>ACA343568143NPHS2c.578G>T (p.Cys193Phe)
c.534+2492G>T (n.534+2492G>T)
c.401G>T (p.Cys134Phe)
c.461+2492G>T (n.461+2492G>T)
1g.179557187C=CA1210319280NPHS2c.578G= (p.Cys193=)
c.534+2492G= (n.534+2492G=)
c.401G= (p.Cys134=)
c.461+2492G= (n.461+2492G=)
1g.179557187C>GCA343568144NPHS2c.578G>C (p.Cys193Ser)
c.534+2492G>C (n.534+2492G>C)
c.401G>C (p.Cys134Ser)
c.461+2492G>C (n.461+2492G>C)
1g.179557187C>TCA343568146NPHS2c.578G>A (p.Cys193Tyr)
c.534+2492G>A (n.534+2492G>A)
c.401G>A (p.Cys134Tyr)
c.461+2492G>A (n.461+2492G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.179557187_179557189delinsCAACA1210319279NPHS2c.576_578delinsTTG (p.Ile192=)
c.534+2490_534+2492delinsTTG (n.534+2490_534+2492delinsTTG)
c.399_401delinsTTG (p.Ile133=)
c.461+2490_461+2492delinsTTG (n.461+2490_461+2492delinsTTG)
1g.179557188A>CCA343568148NPHS2c.577T>G (p.Cys193Gly)
c.534+2491T>G (n.534+2491T>G)
c.400T>G (p.Cys134Gly)
c.461+2491T>G (n.461+2491T>G)
1g.179557188A>GCA343568150NPHS2c.577T>C (p.Cys193Arg)
c.534+2491T>C (n.534+2491T>C)
c.400T>C (p.Cys134Arg)
c.461+2491T>C (n.461+2491T>C)
1g.179557188A>TCA343568151NPHS2c.577T>A (p.Cys193Ser)
c.534+2491T>A (n.534+2491T>A)
c.400T>A (p.Cys134Ser)
c.461+2491T>A (n.461+2491T>A)
1g.179557189_179557190delCA915941910NPHS2c.576_577del (p.Ile192MetfsTer20)
c.534+2490_534+2491del (n.534+2490_534+2491del)
c.399_400del (p.Ile133MetfsTer20)
c.461+2490_461+2491del (n.461+2490_461+2491del)
 ClinVar dbSNP
1g.179557189A>CCA343568154NPHS2c.576T>G (p.Ile192Met)
c.534+2490T>G (n.534+2490T>G)
c.399T>G (p.Ile133Met)
c.461+2490T>G (n.461+2490T>G)
1g.179557189A>GCA422025805NPHS2c.576T>C (p.Ile192=)
c.534+2490T>C (n.534+2490T>C)
c.399T>C (p.Ile133=)
c.461+2490T>C (n.461+2490T>C)
1g.179557189A>TCA422025806NPHS2c.576T>A (p.Ile192=)
c.534+2490T>A (n.534+2490T>A)
c.399T>A (p.Ile133=)
c.461+2490T>A (n.461+2490T>A)
1g.179557190A=CA1210319281NPHS2c.575T= (p.Ile192=)
c.534+2489T= (n.534+2489T=)
c.398T= (p.Ile133=)
c.461+2489T= (n.461+2489T=)
1g.179557190A>CCA343568156NPHS2c.575T>G (p.Ile192Ser)
c.534+2489T>G (n.534+2489T>G)
c.398T>G (p.Ile133Ser)
c.461+2489T>G (n.461+2489T>G)
1g.179557190A>GCA343568159NPHS2c.575T>C (p.Ile192Thr)
c.534+2489T>C (n.534+2489T>C)
c.398T>C (p.Ile133Thr)
c.461+2489T>C (n.461+2489T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.179557190A>TCA343568161NPHS2c.575T>A (p.Ile192Asn)
c.534+2489T>A (n.534+2489T>A)
c.398T>A (p.Ile133Asn)
c.461+2489T>A (n.461+2489T>A)
1g.179557191T>ACA343568168NPHS2c.574A>T (p.Ile192Phe)
c.534+2488A>T (n.534+2488A>T)
c.397A>T (p.Ile133Phe)
c.461+2488A>T (n.461+2488A>T)
1g.179557191T>CCA343568165NPHS2c.574A>G (p.Ile192Val)
c.534+2488A>G (n.534+2488A>G)
c.397A>G (p.Ile133Val)
c.461+2488A>G (n.461+2488A>G)
1g.179557191T>GCA343568163NPHS2c.574A>C (p.Ile192Leu)
c.534+2488A>C (n.534+2488A>C)
c.397A>C (p.Ile133Leu)
c.461+2488A>C (n.461+2488A>C)
1g.179557192G>ACA422025809NPHS2c.573C>T (p.Ala191=)
c.534+2487C>T (n.534+2487C>T)
c.396C>T (p.Ala132=)
c.461+2487C>T (n.461+2487C>T)
 ClinVar dbSNP gnomAD v4
1g.179557192G>CCA422025808NPHS2c.573C>G (p.Ala191=)
c.534+2487C>G (n.534+2487C>G)
c.396C>G (p.Ala132=)
c.461+2487C>G (n.461+2487C>G)
1g.179557192G>TCA422025807NPHS2c.573C>A (p.Ala191=)
c.534+2487C>A (n.534+2487C>A)
c.396C>A (p.Ala132=)
c.461+2487C>A (n.461+2487C>A)
1g.179557193G>ACA343568170NPHS2c.572C>T (p.Ala191Val)
c.534+2486C>T (n.534+2486C>T)
c.395C>T (p.Ala132Val)
c.461+2486C>T (n.461+2486C>T)
 gnomAD v4 COSMIC

Number of alleles fetched