Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
19	g.35842175A=	CA2333847389	NPHS1	c.2612T= (p.Ile871=)
19	g.35842175A>C	CA405391465	NPHS1	c.2612T>G (p.Ile871Ser)
19	g.35842175A>G	CA9390078	NPHS1	c.2612T>C (p.Ile871Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35842175A>T	CA405391469	NPHS1	c.2612T>A (p.Ile871Asn)
19	g.35842176T>A	CA405391473	NPHS1	c.2611A>T (p.Ile871Phe)
19	g.35842176T>C	CA9390079	NPHS1	c.2611A>G (p.Ile871Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35842176T>G	CA405391477	NPHS1	c.2611A>C (p.Ile871Leu)
19	g.35842176T=	CA2333847390	NPHS1	c.2611A= (p.Ile871=)
19	g.35842177G>A	CA507075888	NPHS1	c.2610C>T (p.Asn870=)	ClinVar dbSNP gnomAD v4
19	g.35842177G>C	CA405391482	NPHS1	c.2610C>G (p.Asn870Lys)
19	g.35842177G>T	CA405391481	NPHS1	c.2610C>A (p.Asn870Lys)	gnomAD v4
19	g.35842178T>A	CA405391528	NPHS1	c.2609A>T (p.Asn870Ile)
19	g.35842178T>C	CA9390080	NPHS1	c.2609A>G (p.Asn870Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35842178T>G	CA405391535	NPHS1	c.2609A>C (p.Asn870Thr)
19	g.35842178T=	CA2333847391	NPHS1	c.2609A= (p.Asn870=)
19	g.35842178_35842179dup	CA2695198180	NPHS1	c.2608_2609dup (p.Asn870LysfsTer?)	ClinVar
19	g.35842179T>A	CA405391540	NPHS1	c.2608A>T (p.Asn870Tyr)
19	g.35842179T>C	CA405391543	NPHS1	c.2608A>G (p.Asn870Asp)
19	g.35842179T>G	CA405391546	NPHS1	c.2608A>C (p.Asn870His)
19	g.35842179T=	CA2333847392	NPHS1	c.2608A= (p.Asn870=)
19	g.35842180G>A	CA9390081	NPHS1	c.2607C>T (p.Pro869=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35842180G>C	CA507075894	NPHS1	c.2607C>G (p.Pro869=)	gnomAD v4
19	g.35842180G=	CA2333847393	NPHS1	c.2607C= (p.Pro869=)
19	g.35842180G>T	CA507075895	NPHS1	c.2607C>A (p.Pro869=)	gnomAD v4
19	g.35842182_35842183dup	CA250202	NPHS1	c.2606_2607dup (p.Asn870ProfsTer?)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35842181G>A	CA405391559	NPHS1	c.2606C>T (p.Pro869Leu)
19	g.35842181G>C	CA405391562	NPHS1	c.2606C>G (p.Pro869Arg)	gnomAD v4
19	g.35842181G>T	CA405391564	NPHS1	c.2606C>A (p.Pro869His)
19	g.35842182G>A	CA405391570	NPHS1	c.2605C>T (p.Pro869Ser)
19	g.35842182G>C	CA405391573	NPHS1	c.2605C>G (p.Pro869Ala)
19	g.35842182G>T	CA405391576	NPHS1	c.2605C>A (p.Pro869Thr)	gnomAD v4 COSMIC
19	g.35842183G>A	CA9390082	NPHS1	c.2604C>T (p.Val868=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35842183G>C	CA507075904	NPHS1	c.2604C>G (p.Val868=)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.35842183G=	CA2333847394	NPHS1	c.2604C= (p.Val868=)
19	g.35842183G>T	CA507075903	NPHS1	c.2604C>A (p.Val868=)	dbSNP gnomAD v2 gnomAD v4
19	g.35842184A>C	CA405391586	NPHS1	c.2603T>G (p.Val868Gly)
19	g.35842184A>G	CA405391588	NPHS1	c.2603T>C (p.Val868Ala)	gnomAD v4
19	g.35842184A>T	CA405391591	NPHS1	c.2603T>A (p.Val868Asp)	gnomAD v4
19	g.35842185C>A	CA405391597	NPHS1	c.2602G>T (p.Val868Phe)
19	g.35842185C>G	CA405391599	NPHS1	c.2602G>C (p.Val868Leu)
19	g.35842185C>T	CA405391602	NPHS1	c.2602G>A (p.Val868Ile)	gnomAD v4
19	g.35842186A>C	CA507075912	NPHS1	c.2601T>G (p.Gly867=)	ClinVar dbSNP
19	g.35842186A>G	CA507075913	NPHS1	c.2601T>C (p.Gly867=)
19	g.35842186A>T	CA507075914	NPHS1	c.2601T>A (p.Gly867=)
19	g.35842187C>A	CA405391605	NPHS1	c.2600G>T (p.Gly867Val)	dbSNP gnomAD v2 gnomAD v4
19	g.35842187C=	CA2333847395	NPHS1	c.2600G= (p.Gly867=)
19	g.35842187C>G	CA405391606	NPHS1	c.2600G>C (p.Gly867Ala)
19	g.35842187C>T	CA9390083	NPHS1	c.2600G>A (p.Gly867Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35842188C>A	CA405391609	NPHS1	c.2599G>T (p.Gly867Cys)
19	g.35842188C>G	CA405391613	NPHS1	c.2599G>C (p.Gly867Arg)
19	g.35842188C>T	CA405391615	NPHS1	c.2599G>A (p.Gly867Ser)
19	g.35842189T>A	CA507075918	NPHS1	c.2598A>T (p.Arg866=)
19	g.35842189T>C	CA507075919	NPHS1	c.2598A>G (p.Arg866=)
19	g.35842189T>G	CA507075920	NPHS1	c.2598A>C (p.Arg866=)	gnomAD v4
19	g.35842190C>A	CA405391619	NPHS1	c.2597G>T (p.Arg866Leu)
19	g.35842190C=	CA2333847396	NPHS1	c.2597G= (p.Arg866=)
19	g.35842190C>G	CA405391622	NPHS1	c.2597G>C (p.Arg866Pro)
19	g.35842190C>T	CA307782190	NPHS1	c.2597G>A (p.Arg866Gln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.35842191G>A	CA250199	NPHS1	c.2596C>T (p.Arg866Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19	g.35842191G>C	CA405391627	NPHS1	c.2596C>G (p.Arg866Gly)
19	g.35842191G=	CA2333847397	NPHS1	c.2596C= (p.Arg866=)
19	g.35842191G>T	CA507075921	NPHS1	c.2596C>A (p.Arg866=)
19	g.35842192G>A	CA507075922	NPHS1	c.2595C>T (p.Ala865=)
19	g.35842192G>C	CA507075923	NPHS1	c.2595C>G (p.Ala865=)
19	g.35842192G>T	CA507075924	NPHS1	c.2595C>A (p.Ala865=)
19	g.35842193G>A	CA405391632	NPHS1	c.2594C>T (p.Ala865Val)
19	g.35842193G>C	CA405391635	NPHS1	c.2594C>G (p.Ala865Gly)
19	g.35842193G>T	CA405391637	NPHS1	c.2594C>A (p.Ala865Asp)
19	g.35842194C>A	CA405391643	NPHS1	c.2593G>T (p.Ala865Ser)
19	g.35842194C>G	CA405391647	NPHS1	c.2593G>C (p.Ala865Pro)
19	g.35842194C>T	CA405391649	NPHS1	c.2593G>A (p.Ala865Thr)
19	g.35842195A>C	CA507075928	NPHS1	c.2592T>G (p.Arg864=)
19	g.35842195A>G	CA507075929	NPHS1	c.2592T>C (p.Arg864=)	gnomAD v4
19	g.35842195A>T	CA507075930	NPHS1	c.2592T>A (p.Arg864=)
19	g.35842196C>A	CA405391654	NPHS1	c.2591G>T (p.Arg864Leu)
19	g.35842196C=	CA2333847398	NPHS1	c.2591G= (p.Arg864=)
19	g.35842196C>G	CA405391659	NPHS1	c.2591G>C (p.Arg864Pro)
19	g.35842196C>T	CA9390084	NPHS1	c.2591G>A (p.Arg864His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.35842197G>A	CA9390085	NPHS1	c.2590C>T (p.Arg864Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35842197G>C	CA405391666	NPHS1	c.2590C>G (p.Arg864Gly)
19	g.35842197G=	CA2333847399	NPHS1	c.2590C= (p.Arg864=)
19	g.35842197G>T	CA405391667	NPHS1	c.2590C>A (p.Arg864Ser)
19	g.35842198G>A	CA507075932	NPHS1	c.2589C>T (p.Cys863=)	ClinVar gnomAD v4
19	g.35842198G>C	CA405391671	NPHS1	c.2589C>G (p.Cys863Trp)
19	g.35842198G>T	CA405391674	NPHS1	c.2589C>A (p.Cys863Ter)
19	g.35842199C>A	CA405391683	NPHS1	c.2588G>T (p.Cys863Phe)	ClinVar dbSNP
19	g.35842199C=	CA2333847400	NPHS1	c.2588G= (p.Cys863=)
19	g.35842199C>G	CA405391685	NPHS1	c.2588G>C (p.Cys863Ser)
19	g.35842199C>T	CA405391687	NPHS1	c.2588G>A (p.Cys863Tyr)
19	g.35842200A>C	CA405391691	NPHS1	c.2587T>G (p.Cys863Gly)
19	g.35842200A>G	CA405391694	NPHS1	c.2587T>C (p.Cys863Arg)	ClinVar
19	g.35842200A>T	CA405391697	NPHS1	c.2587T>A (p.Cys863Ser)
19	g.35842201G>A	CA507075941	NPHS1	c.2586C>T (p.His862=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.35842201G>C	CA405391700	NPHS1	c.2586C>G (p.His862Gln)
19	g.35842201G=	CA2333847401	NPHS1	c.2586C= (p.His862=)
19	g.35842201G>T	CA405391702	NPHS1	c.2586C>A (p.His862Gln)
19	g.35842202T>A	CA405391707	NPHS1	c.2585A>T (p.His862Leu)
19	g.35842202T>C	CA405391712	NPHS1	c.2585A>G (p.His862Arg)
19	g.35842202T>G	CA405391710	NPHS1	c.2585A>C (p.His862Pro)
19	g.35842203G>A	CA405391717	NPHS1	c.2584C>T (p.His862Tyr)	dbSNP gnomAD v4
19	g.35842203G>C	CA405391722	NPHS1	c.2584C>G (p.His862Asp)
19	g.35842203G=	CA2333847402	NPHS1	c.2584C= (p.His862=)
19	g.35842203G>T	CA405391719	NPHS1	c.2584C>A (p.His862Asn)
19	g.35842204G>A	CA507075953	NPHS1	c.2583C>T (p.Leu861=)	dbSNP gnomAD v4
19	g.35842204G>C	CA507075951	NPHS1	c.2583C>G (p.Leu861=)
19	g.35842204G=	CA2333847403	NPHS1	c.2583C= (p.Leu861=)
19	g.35842204G>T	CA507075950	NPHS1	c.2583C>A (p.Leu861=)
19	g.35842205A>C	CA405391728	NPHS1	c.2582T>G (p.Leu861Arg)
19	g.35842205A>G	CA405391731	NPHS1	c.2582T>C (p.Leu861Pro)
19	g.35842205A>T	CA405391734	NPHS1	c.2582T>A (p.Leu861His)
19	g.35842206G>A	CA405391738	NPHS1	c.2581C>T (p.Leu861Phe)
19	g.35842206G>C	CA405391740	NPHS1	c.2581C>G (p.Leu861Val)
19	g.35842206G>T	CA405391742	NPHS1	c.2581C>A (p.Leu861Ile)	gnomAD v4
19	g.35842207G>A	CA9390086	NPHS1	c.2580C>T (p.Thr860=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.35842207G>C	CA507075960	NPHS1	c.2580C>G (p.Thr860=)
19	g.35842207G=	CA2333847404	NPHS1	c.2580C= (p.Thr860=)
19	g.35842207G>T	CA507075962	NPHS1	c.2580C>A (p.Thr860=)
19	g.35842208G>A	CA405391748	NPHS1	c.2579C>T (p.Thr860Ile)
19	g.35842208G>C	CA405391751	NPHS1	c.2579C>G (p.Thr860Ser)
19	g.35842208G>T	CA405391753	NPHS1	c.2579C>A (p.Thr860Asn)
19	g.35842209T>A	CA405391764	NPHS1	c.2578A>T (p.Thr860Ser)
19	g.35842209T>C	CA405391761	NPHS1	c.2578A>G (p.Thr860Ala)	dbSNP gnomAD v2 gnomAD v4
19	g.35842209T>G	CA405391758	NPHS1	c.2578A>C (p.Thr860Pro)	dbSNP
19	g.35842209T=	CA2333847405	NPHS1	c.2578A= (p.Thr860=)
19	g.35842209dup	CA2576758769	NPHS1	c.2578dup (p.Thr860AsnfsTer?)
19	g.35842210G>A	CA507075970	NPHS1	c.2577C>T (p.Ala859=)
19	g.35842210G>C	CA507075974	NPHS1	c.2577C>G (p.Ala859=)
19	g.35842210G>T	CA507075972	NPHS1	c.2577C>A (p.Ala859=)	COSMIC
19	g.35842211G>A	CA405391769	NPHS1	c.2576C>T (p.Ala859Val)
19	g.35842211G>C	CA405391772	NPHS1	c.2576C>G (p.Ala859Gly)
19	g.35842211G>T	CA405391775	NPHS1	c.2576C>A (p.Ala859Asp)
19	g.35842212C>A	CA405391780	NPHS1	c.2575G>T (p.Ala859Ser)	gnomAD v4
19	g.35842212C>G	CA405391782	NPHS1	c.2575G>C (p.Ala859Pro)	dbSNP gnomAD v3 gnomAD v4
19	g.35842212C>T	CA405391786	NPHS1	c.2575G>A (p.Ala859Thr)
19	g.35842213A>C	CA507075982	NPHS1	c.2574T>G (p.Ser858=)
19	g.35842213A>G	CA507075983	NPHS1	c.2574T>C (p.Ser858=)
19	g.35842213A>T	CA507075985	NPHS1	c.2574T>A (p.Ser858=)
19	g.35842214G>A	CA405391790	NPHS1	c.2573C>T (p.Ser858Phe)
19	g.35842214G>C	CA405391792	NPHS1	c.2573C>G (p.Ser858Cys)
19	g.35842214G>T	CA405391795	NPHS1	c.2573C>A (p.Ser858Tyr)
19	g.35842215A>C	CA405391800	NPHS1	c.2572T>G (p.Ser858Ala)
19	g.35842215A>G	CA405391803	NPHS1	c.2572T>C (p.Ser858Pro)
19	g.35842215A>T	CA405391806	NPHS1	c.2572T>A (p.Ser858Thr)
19	g.35842216A>C	CA405391813	NPHS1	c.2571T>G (p.Ser857Arg)
19	g.35842216A>G	CA507075993	NPHS1	c.2571T>C (p.Ser857=)
19	g.35842216A>T	CA405391810	NPHS1	c.2571T>A (p.Ser857Arg)
19	g.35842217C>A	CA405391818	NPHS1	c.2570G>T (p.Ser857Ile)
19	g.35842217C>G	CA405391821	NPHS1	c.2570G>C (p.Ser857Thr)
19	g.35842217C>T	CA405391824	NPHS1	c.2570G>A (p.Ser857Asn)
19	g.35842218T>A	CA405391830	NPHS1	c.2569A>T (p.Ser857Cys)
19	g.35842218T>C	CA405391833	NPHS1	c.2569A>G (p.Ser857Gly)
19	g.35842218T>G	CA405391835	NPHS1	c.2569A>C (p.Ser857Arg)
19	g.35842219G>A	CA507076006	NPHS1	c.2568C>T (p.Thr856=)
19	g.35842219G>C	CA507076008	NPHS1	c.2568C>G (p.Thr856=)
19	g.35842219G>T	CA507076004	NPHS1	c.2568C>A (p.Thr856=)
19	g.35842220G>A	CA405391845	NPHS1	c.2567C>T (p.Thr856Ile)	gnomAD v4
19	g.35842220G>C	CA405391841	NPHS1	c.2567C>G (p.Thr856Ser)
19	g.35842220G=	CA2333847406	NPHS1	c.2567C= (p.Thr856=)
19	g.35842220G>T	CA9390087	NPHS1	c.2567C>A (p.Thr856Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35842221T>A	CA405391850	NPHS1	c.2566A>T (p.Thr856Ser)
19	g.35842221T>C	CA405391854	NPHS1	c.2566A>G (p.Thr856Ala)
19	g.35842221T>G	CA405391857	NPHS1	c.2566A>C (p.Thr856Pro)	dbSNP
19	g.35842221T=	CA2333847407	NPHS1	c.2566A= (p.Thr856=)
19	g.35842222G>A	CA507076018	NPHS1	c.2565C>T (p.Ser855=)	ClinVar
19	g.35842222G>C	CA405391864	NPHS1	c.2565C>G (p.Ser855Arg)
19	g.35842222G>T	CA405391866	NPHS1	c.2565C>A (p.Ser855Arg)
19	g.35842223C>A	CA405391870	NPHS1	c.2564G>T (p.Ser855Ile)	gnomAD v4
19	g.35842223C>G	CA405391875	NPHS1	c.2564G>C (p.Ser855Thr)	COSMIC
19	g.35842223C>T	CA405391871	NPHS1	c.2564G>A (p.Ser855Asn)	COSMIC
19	g.35842224T>A	CA405391880	NPHS1	c.2563A>T (p.Ser855Cys)
19	g.35842224T>C	CA405391883	NPHS1	c.2563A>G (p.Ser855Gly)
19	g.35842224T>G	CA405391885	NPHS1	c.2563A>C (p.Ser855Arg)
19	g.35842225G>A	CA507076030	NPHS1	c.2562C>T (p.Asp854=)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.35842225G>C	CA405391888	NPHS1	c.2562C>G (p.Asp854Glu)
19	g.35842225G=	CA2333847408	NPHS1	c.2562C= (p.Asp854=)
19	g.35842225G>T	CA405391890	NPHS1	c.2562C>A (p.Asp854Glu)	gnomAD v4
19	g.35842226T>A	CA405391895	NPHS1	c.2561A>T (p.Asp854Val)	dbSNP gnomAD v4
19	g.35842226T>C	CA405391898	NPHS1	c.2561A>G (p.Asp854Gly)	gnomAD v4
19	g.35842226T>G	CA405391903	NPHS1	c.2561A>C (p.Asp854Ala)
19	g.35842227C>A	CA405391907	NPHS1	c.2560G>T (p.Asp854Tyr)	COSMIC
19	g.35842227C>G	CA405391909	NPHS1	c.2560G>C (p.Asp854His)
19	g.35842227C>T	CA405391912	NPHS1	c.2560G>A (p.Asp854Asn)	gnomAD v4
19	g.35842228T>A	CA507076039	NPHS1	c.2559A>T (p.Gly853=)
19	g.35842228T>C	CA507076041	NPHS1	c.2559A>G (p.Gly853=)
19	g.35842228T>G	CA507076043	NPHS1	c.2559A>C (p.Gly853=)
19	g.35842228_35842238delinsTCCAGCTGCAG	CA2333847409	NPHS1	c.2549_2559delinsCTGCAGCTGGA (p.Ala850=)
19	g.35842229C>A	CA405391926	NPHS1	c.2558G>T (p.Gly853Val)
19	g.35842229C>G	CA405391919	NPHS1	c.2558G>C (p.Gly853Ala)
19	g.35842229C>T	CA405391922	NPHS1	c.2558G>A (p.Gly853Glu)
19	g.35842232_35842241del	CA250198	NPHS1	c.2549_2558del (p.Ala850GlufsTer?)	ClinVar dbSNP
19	g.35842230C>A	CA405391935	NPHS1	c.2557G>T (p.Gly853Ter)
19	g.35842230C>G	CA405391939	NPHS1	c.2557G>C (p.Gly853Arg)
19	g.35842230C>T	CA405391942	NPHS1	c.2557G>A (p.Gly853Arg)
19	g.35842231A=	CA2333847410	NPHS1	c.2556T= (p.Ala852=)
19	g.35842231A>C	CA9390088	NPHS1	c.2556T>G (p.Ala852=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35842231A>G	CA507076051	NPHS1	c.2556T>C (p.Ala852=)
19	g.35842231A>T	CA507076056	NPHS1	c.2556T>A (p.Ala852=)
19	g.35842232G>A	CA405391949	NPHS1	c.2555C>T (p.Ala852Val)
19	g.35842232G>C	CA405391952	NPHS1	c.2555C>G (p.Ala852Gly)
19	g.35842232G>T	CA405391955	NPHS1	c.2555C>A (p.Ala852Asp)
19	g.35842233C>A	CA405391961	NPHS1	c.2554G>T (p.Ala852Ser)
19	g.35842233C>G	CA405391964	NPHS1	c.2554G>C (p.Ala852Pro)
19	g.35842233C>T	CA405391967	NPHS1	c.2554G>A (p.Ala852Thr)
19	g.35842234T>A	CA507076066	NPHS1	c.2553A>T (p.Ala851=)	gnomAD v4
19	g.35842234T>C	CA507076069	NPHS1	c.2553A>G (p.Ala851=)
19	g.35842234T>G	CA507076070	NPHS1	c.2553A>C (p.Ala851=)
19	g.35842235G>A	CA405391970	NPHS1	c.2552C>T (p.Ala851Val)	gnomAD v4
19	g.35842235G>C	CA405391974	NPHS1	c.2552C>G (p.Ala851Gly)
19	g.35842235G>T	CA405391976	NPHS1	c.2552C>A (p.Ala851Glu)
19	g.35842236C>A	CA405391981	NPHS1	c.2551G>T (p.Ala851Ser)
19	g.35842236C=	CA2333847411	NPHS1	c.2551G= (p.Ala851=)
19	g.35842236C>G	CA405391980	NPHS1	c.2551G>C (p.Ala851Pro)
19	g.35842236C>T	CA405391979	NPHS1	c.2551G>A (p.Ala851Thr)	dbSNP gnomAD v2 gnomAD v4
19	g.35842237A>C	CA507076079	NPHS1	c.2550T>G (p.Ala850=)
19	g.35842237A>G	CA507076080	NPHS1	c.2550T>C (p.Ala850=)
19	g.35842237A>T	CA507076081	NPHS1	c.2550T>A (p.Ala850=)
19	g.35842238G>A	CA405391982	NPHS1	c.2549C>T (p.Ala850Val)
19	g.35842238G>C	CA405391984	NPHS1	c.2549C>G (p.Ala850Gly)
19	g.35842238G>T	CA405391987	NPHS1	c.2549C>A (p.Ala850Asp)	COSMIC
19	g.35842239C>A	CA405391991	NPHS1	c.2548G>T (p.Ala850Ser)
19	g.35842239C>G	CA405391993	NPHS1	c.2548G>C (p.Ala850Pro)
19	g.35842239C>T	CA405391997	NPHS1	c.2548G>A (p.Ala850Thr)
19	g.35842240C>A	CA507076091	NPHS1	c.2547G>T (p.Val849=)
19	g.35842240C>G	CA507076092	NPHS1	c.2547G>C (p.Val849=)	COSMIC
19	g.35842240C>T	CA507076094	NPHS1	c.2547G>A (p.Val849=)
19	g.35842241A>C	CA405392001	NPHS1	c.2546T>G (p.Val849Gly)
19	g.35842241A>G	CA405392003	NPHS1	c.2546T>C (p.Val849Ala)
19	g.35842241A>T	CA405392007	NPHS1	c.2546T>A (p.Val849Glu)
19	g.35842242C>A	CA405392011	NPHS1	c.2545G>T (p.Val849Leu)
19	g.35842242C=	CA2333847412	NPHS1	c.2545G= (p.Val849=)
19	g.35842242C>G	CA405392014	NPHS1	c.2545G>C (p.Val849Leu)
19	g.35842242C>T	CA405392016	NPHS1	c.2545G>A (p.Val849Met)	dbSNP gnomAD v2 gnomAD v4
19	g.35842243C>A	CA405392025	NPHS1	c.2544G>T (p.Lys848Asn)
19	g.35842243C=	CA2333847413	NPHS1	c.2544G= (p.Lys848=)
19	g.35842243C>G	CA405392021	NPHS1	c.2544G>C (p.Lys848Asn)
19	g.35842243C>T	CA507076106	NPHS1	c.2544G>A (p.Lys848=)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.35842243_35842247del	CA913015903	NPHS1	c.2540_2544del (p.Thr847SerfsTer?)
19	g.35842243_35842247delinsCTTAG	CA2333847414	NPHS1	c.2540_2544delinsCTAAG (p.Thr847=)
19	g.35842244T>A	CA405392029	NPHS1	c.2543A>T (p.Lys848Met)	dbSNP
19	g.35842244T>C	CA405392031	NPHS1	c.2543A>G (p.Lys848Arg)
19	g.35842244T>G	CA9390089	NPHS1	c.2543A>C (p.Lys848Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35842244T=	CA2333847415	NPHS1	c.2543A= (p.Lys848=)
19	g.35842248_35842251del	CA658824411	NPHS1	c.2540_2543del (p.Thr847ArgfsTer?)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.35842245T>A	CA405392038	NPHS1	c.2542A>T (p.Lys848Ter)
19	g.35842245T>C	CA405392041	NPHS1	c.2542A>G (p.Lys848Glu)	ClinVar gnomAD v4
19	g.35842245T>G	CA405392043	NPHS1	c.2542A>C (p.Lys848Gln)
19	g.35842245_35842246delinsTA	CA2333847416	NPHS1	c.2541_2542delinsTA (p.Thr847=)
19	g.35842246del	CA658684229	NPHS1	c.2541del (p.Lys848ArgfsTer?)	ClinVar dbSNP
19	g.35842246A=	CA2333847417	NPHS1	c.2541T= (p.Thr847=)
19	g.35842246A>C	CA507076124	NPHS1	c.2541T>G (p.Thr847=)
19	g.35842246A>G	CA507076122	NPHS1	c.2541T>C (p.Thr847=)
19	g.35842246A>T	CA307782224	NPHS1	c.2541T>A (p.Thr847=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.35842247G>A	CA405392050	NPHS1	c.2540C>T (p.Thr847Ile)
19	g.35842247G>C	CA405392051	NPHS1	c.2540C>G (p.Thr847Ser)	gnomAD v4
19	g.35842247G>T	CA405392054	NPHS1	c.2540C>A (p.Thr847Asn)	COSMIC
19	g.35842248T>A	CA405392056	NPHS1	c.2539A>T (p.Thr847Ser)
19	g.35842248T>C	CA405392059	NPHS1	c.2539A>G (p.Thr847Ala)
19	g.35842248T>G	CA405392062	NPHS1	c.2539A>C (p.Thr847Pro)	gnomAD v4
19	g.35842249T>A	CA507076136	NPHS1	c.2538A>T (p.Leu846=)
19	g.35842249T>C	CA507076137	NPHS1	c.2538A>G (p.Leu846=)
19	g.35842249T>G	CA507076139	NPHS1	c.2538A>C (p.Leu846=)	gnomAD v4
19	g.35842250A>C	CA405392070	NPHS1	c.2537T>G (p.Leu846Arg)	COSMIC
19	g.35842250A>G	CA405392073	NPHS1	c.2537T>C (p.Leu846Pro)
19	g.35842250A>T	CA405392066	NPHS1	c.2537T>A (p.Leu846Gln)
19	g.35842251G>A	CA507076146	NPHS1	c.2536C>T (p.Leu846=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.35842251G>C	CA405392075	NPHS1	c.2536C>G (p.Leu846Val)
19	g.35842251G=	CA2333847418	NPHS1	c.2536C= (p.Leu846=)
19	g.35842251G>T	CA405392079	NPHS1	c.2536C>A (p.Leu846Ile)
19	g.35842254del	CA2584602283	NPHS1	c.2536del (p.Leu846Ter)	ClinVar gnomAD v4
19	g.35842252G>A	CA507076149	NPHS1	c.2535C>T (p.Pro845=)	gnomAD v4
19	g.35842252G>C	CA507076152	NPHS1	c.2535C>G (p.Pro845=)
19	g.35842252G>T	CA507076156	NPHS1	c.2535C>A (p.Pro845=)
19	g.35842253G>A	CA307782228	NPHS1	c.2534C>T (p.Pro845Leu)	dbSNP COSMIC
19	g.35842253G>C	CA405392088	NPHS1	c.2534C>G (p.Pro845Arg)
19	g.35842253G=	CA2333847419	NPHS1	c.2534C= (p.Pro845=)
19	g.35842253G>T	CA405392091	NPHS1	c.2534C>A (p.Pro845His)
19	g.35842254G>A	CA405392109	NPHS1	c.2533C>T (p.Pro845Ser)	dbSNP gnomAD v2 gnomAD v4
19	g.35842254G>C	CA405392103	NPHS1	c.2533C>G (p.Pro845Ala)
19	g.35842254G=	CA2333847420	NPHS1	c.2533C= (p.Pro845=)
19	g.35842254G>T	CA9390090	NPHS1	c.2533C>A (p.Pro845Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35842255A>C	CA507076163	NPHS1	c.2532T>G (p.Thr844=)
19	g.35842255A>G	CA507076165	NPHS1	c.2532T>C (p.Thr844=)
19	g.35842255A>T	CA507076166	NPHS1	c.2532T>A (p.Thr844=)
19	g.35842256G>A	CA405392112	NPHS1	c.2531C>T (p.Thr844Ile)
19	g.35842256G>C	CA405392113	NPHS1	c.2531C>G (p.Thr844Ser)
19	g.35842256G>T	CA405392114	NPHS1	c.2531C>A (p.Thr844Asn)
19	g.35842256_35842257insA	CA2695228614	NPHS1	c.2530_2531insT (p.Thr844IlefsTer5)
19	g.35842257del	CA2697556473	NPHS1	c.2530del (p.Thr844LeufsTer3)	ClinVar
19	g.35842257T>A	CA405392115	NPHS1	c.2530A>T (p.Thr844Ser)
19	g.35842257T>C	CA405392116	NPHS1	c.2530A>G (p.Thr844Ala)
19	g.35842257T>G	CA405392118	NPHS1	c.2530A>C (p.Thr844Pro)
19	g.35842258G>A	CA507076178	NPHS1	c.2529C>T (p.Pro843=)
19	g.35842258G>C	CA507076180	NPHS1	c.2529C>G (p.Pro843=)
19	g.35842258G>T	CA507076182	NPHS1	c.2529C>A (p.Pro843=)
19	g.35842261del	CA2584602284	NPHS1	c.2529del (p.Thr844LeufsTer3)	gnomAD v4
19	g.35842259G>A	CA405392123	NPHS1	c.2528C>T (p.Pro843Leu)
19	g.35842259G>C	CA405392128	NPHS1	c.2528C>G (p.Pro843Arg)
19	g.35842259G>T	CA405392121	NPHS1	c.2528C>A (p.Pro843His)	gnomAD v4
19	g.35842260G>A	CA405392133	NPHS1	c.2527C>T (p.Pro843Ser)	dbSNP gnomAD v4
19	g.35842260G>C	CA9390091	NPHS1	c.2527C>G (p.Pro843Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35842260G=	CA2333847421	NPHS1	c.2527C= (p.Pro843=)
19	g.35842260G>T	CA405392134	NPHS1	c.2527C>A (p.Pro843Thr)
19	g.35842261G>A	CA307782237	NPHS1	c.2526C>T (p.His842=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.35842261G>C	CA405392142	NPHS1	c.2526C>G (p.His842Gln)
19	g.35842261G=	CA2333847422	NPHS1	c.2526C= (p.His842=)
19	g.35842261G>T	CA405392145	NPHS1	c.2526C>A (p.His842Gln)	dbSNP gnomAD v4
19	g.35842262del	CA2695228615	NPHS1	c.2525del (p.His842ProfsTer5)
19	g.35842262T>A	CA405392148	NPHS1	c.2525A>T (p.His842Leu)
19	g.35842262T>C	CA405392154	NPHS1	c.2525A>G (p.His842Arg)
19	g.35842262T>G	CA405392150	NPHS1	c.2525A>C (p.His842Pro)	ClinVar dbSNP
19	g.35842262T=	CA2333847423	NPHS1	c.2525A= (p.His842=)
19	g.35842263G>A	CA405392158	NPHS1	c.2524C>T (p.His842Tyr)
19	g.35842263G>C	CA405392161	NPHS1	c.2524C>G (p.His842Asp)
19	g.35842263G>T	CA405392164	NPHS1	c.2524C>A (p.His842Asn)
19	g.35842264C>A	CA405392168	NPHS1	c.2523G>T (p.Glu841Asp)
19	g.35842264C=	CA2333847424	NPHS1	c.2523G= (p.Glu841=)
19	g.35842264C>G	CA405392171	NPHS1	c.2523G>C (p.Glu841Asp)
19	g.35842264C>T	CA507076199	NPHS1	c.2523G>A (p.Glu841=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.35842265T>A	CA405392174	NPHS1	c.2522A>T (p.Glu841Val)
19	g.35842265T>C	CA405392175	NPHS1	c.2522A>G (p.Glu841Gly)
19	g.35842265T>G	CA405392176	NPHS1	c.2522A>C (p.Glu841Ala)
19	g.35842266C>A	CA405392179	NPHS1	c.2521G>T (p.Glu841Ter)
19	g.35842266C=	CA2333847425	NPHS1	c.2521G= (p.Glu841=)
19	g.35842266C>G	CA405392181	NPHS1	c.2521G>C (p.Glu841Gln)
19	g.35842266C>T	CA9390092	NPHS1	c.2521G>A (p.Glu841Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35842267C>A	CA507076217	NPHS1	c.2520G>T (p.Val840=)
19	g.35842267C=	CA2333847426	NPHS1	c.2520G= (p.Val840=)
19	g.35842267C>G	CA507076214	NPHS1	c.2520G>C (p.Val840=)
19	g.35842267C>T	CA9390093	NPHS1	c.2520G>A (p.Val840=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19	g.35842268A=	CA2333847427	NPHS1	c.2519T= (p.Val840=)
19	g.35842268A>C	CA9390094	NPHS1	c.2519T>G (p.Val840Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35842268A>G	CA405392196	NPHS1	c.2519T>C (p.Val840Ala)
19	g.35842268A>T	CA405392193	NPHS1	c.2519T>A (p.Val840Glu)
19	g.35842269C>A	CA405392199	NPHS1	c.2518G>T (p.Val840Leu)
19	g.35842269C>G	CA405392203	NPHS1	c.2518G>C (p.Val840Leu)
19	g.35842269C>T	CA405392205	NPHS1	c.2518G>A (p.Val840Met)	gnomAD v4
19	g.35842270C>A	CA405392209	NPHS1	c.2517G>T (p.Gln839His)
19	g.35842270C=	CA2333847428	NPHS1	c.2517G= (p.Gln839=)
19	g.35842270C>G	CA405392212	NPHS1	c.2517G>C (p.Gln839His)
19	g.35842270C>T	CA9390095	NPHS1	c.2517G>A (p.Gln839=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35842271T>A	CA405392215	NPHS1	c.2516A>T (p.Gln839Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.35842271T>C	CA405392218	NPHS1	c.2516A>G (p.Gln839Arg)	dbSNP gnomAD v2
19	g.35842271T>G	CA405392220	NPHS1	c.2516A>C (p.Gln839Pro)
19	g.35842271T=	CA2333847430	NPHS1	c.2516A= (p.Gln839=)
19	g.35842271_35842272delinsTG	CA2333847429	NPHS1	c.2515_2516delinsCA (p.Gln839=)
19	g.35842272G>A	CA405392230	NPHS1	c.2515C>T (p.Gln839Ter)
19	g.35842272G>C	CA405392233	NPHS1	c.2515C>G (p.Gln839Glu)
19	g.35842272G>T	CA405392227	NPHS1	c.2515C>A (p.Gln839Lys)
19	g.35842277dup	CA2584602285	NPHS1	c.2515dup (p.Gln839ProfsTer10)	gnomAD v4
19	g.35842276_35842277dup	CA2695228616	NPHS1	c.2514_2515dup (p.Gln839ProfsTer9)
19	g.35842277del	CA250197	NPHS1	c.2515del (p.Gln839ArgfsTer8)	ClinVar dbSNP gnomAD v4
19	g.35842273G>A	CA507076249	NPHS1	c.2514C>T (p.Pro838=)	ClinVar
19	g.35842273G>C	CA507076246	NPHS1	c.2514C>G (p.Pro838=)
19	g.35842273G=	CA2333847431	NPHS1	c.2514C= (p.Pro838=)
19	g.35842273G>T	CA9390096	NPHS1	c.2514C>A (p.Pro838=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35842274G>A	CA405392238	NPHS1	c.2513C>T (p.Pro838Leu)
19	g.35842274G>C	CA405392240	NPHS1	c.2513C>G (p.Pro838Arg)
19	g.35842274G>T	CA405392243	NPHS1	c.2513C>A (p.Pro838His)
19	g.35842275G>A	CA405392247	NPHS1	c.2512C>T (p.Pro838Ser)	ClinVar gnomAD v4
19	g.35842275G>C	CA405392251	NPHS1	c.2512C>G (p.Pro838Ala)
19	g.35842275G>T	CA405392264	NPHS1	c.2512C>A (p.Pro838Thr)	ClinVar dbSNP gnomAD v4

Number of alleles fetched