Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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
19	g.35842276G>A	CA507076263	NPHS1	c.2511C>T (p.Ala837=)	ClinVar dbSNP
19	g.35842276G>C	CA507076264	NPHS1	c.2511C>G (p.Ala837=)
19	g.35842276G>T	CA507076268	NPHS1	c.2511C>A (p.Ala837=)
19	g.35842277G>A	CA405392273	NPHS1	c.2510C>T (p.Ala837Val)
19	g.35842277G>C	CA405392276	NPHS1	c.2510C>G (p.Ala837Gly)
19	g.35842277G>T	CA405392282	NPHS1	c.2510C>A (p.Ala837Asp)	gnomAD v4
19	g.35842278C>A	CA9390097	NPHS1	c.2509G>T (p.Ala837Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35842278C=	CA2333847432	NPHS1	c.2509G= (p.Ala837=)
19	g.35842278C>G	CA405392297	NPHS1	c.2509G>C (p.Ala837Pro)
19	g.35842278C>T	CA405392299	NPHS1	c.2509G>A (p.Ala837Thr)	dbSNP gnomAD v2 gnomAD v4
19	g.35842279A>C	CA405392305	NPHS1	c.2508T>G (p.Phe836Leu)
19	g.35842279A>G	CA507076285	NPHS1	c.2508T>C (p.Phe836=)	ClinVar gnomAD v4
19	g.35842279A>T	CA405392316	NPHS1	c.2508T>A (p.Phe836Leu)
19	g.35842280A=	CA2333847433	NPHS1	c.2507T= (p.Phe836=)
19	g.35842280A>C	CA405392322	NPHS1	c.2507T>G (p.Phe836Cys)
19	g.35842280A>G	CA405392326	NPHS1	c.2507T>C (p.Phe836Ser)	dbSNP
19	g.35842280A>T	CA405392329	NPHS1	c.2507T>A (p.Phe836Tyr)
19	g.35842281C>A	CA405392330	NPHS1	c.2507-1G>T (n.2507-1G>T)
19	g.35842281C>G	CA405392335	NPHS1	c.2507-1G>C (n.2507-1G>C)
19	g.35842281C>T	CA405392338	NPHS1	c.2507-1G>A (n.2507-1G>A)
19	g.35842282T>A	CA405392347	NPHS1	c.2507-2A>T (n.2507-2A>T)
19	g.35842282T>C	CA405392348	NPHS1	c.2507-2A>G (n.2507-2A>G)	ClinVar dbSNP
19	g.35842282T>G	CA405392350	NPHS1	c.2507-2A>C (n.2507-2A>C)
19	g.35842283G=	CA2333847434	NPHS1	c.2507-3C= (n.2507-3C=)
19	g.35842283G>T	CA633061256	NPHS1	c.2507-3C>A (n.2507-3C>A)	dbSNP gnomAD v2
19	g.35842284G>A	CA307782275	NPHS1	c.2507-4C>T (n.2507-4C>T)	dbSNP
19	g.35842284G=	CA2333847435	NPHS1	c.2507-4C= (n.2507-4C=)
19	g.35842284G>T	CA2584602286	NPHS1	c.2507-4C>A (n.2507-4C>A)	gnomAD v4
19	g.35842285G>A	CA307782276	NPHS1	c.2507-5C>T (n.2507-5C>T)	dbSNP
19	g.35842285G>C	CA2576758770	NPHS1	c.2507-5C>G (n.2507-5C>G)
19	g.35842285G=	CA2333847436	NPHS1	c.2507-5C= (n.2507-5C=)
19	g.35842287G>A	CA2584602287	NPHS1	c.2507-7C>T (n.2507-7C>T)	gnomAD v4
19	g.35842288G>A	CA881822403	NPHS1	c.2507-8C>T (n.2507-8C>T)	dbSNP gnomAD v4
19	g.35842288G>C	CA633061257	NPHS1	c.2507-8C>G (n.2507-8C>G)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.35842288G=	CA2333847437	NPHS1	c.2507-8C= (n.2507-8C=)
19	g.35842288G>T	CA2333847438	NPHS1	c.2507-8C>A (n.2507-8C>A)	ClinVar dbSNP gnomAD v4
19	g.35842289G>A	CA633061258	NPHS1	c.2507-9C>T (n.2507-9C>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.35842289G=	CA2333847439	NPHS1	c.2507-9C= (n.2507-9C=)
19	g.35842291A=	CA2333847440	NPHS1	c.2507-11T= (n.2507-11T=)
19	g.35842291A>T	CA995499256	NPHS1	c.2507-11T>A (n.2507-11T>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.35842292T>C	CA2576758771	NPHS1	c.2507-12A>G (n.2507-12A>G)
19	g.35842292_35842297delinsTGGGCA	CA2333847441	NPHS1	c.2507-17_2507-12delinsTGCCCA (n.2507-17_2507-12delinsTGCCCA)
19	g.35842293G>A	CA9390098	NPHS1	c.2507-13C>T (n.2507-13C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35842293G=	CA2333847443	NPHS1	c.2507-13C= (n.2507-13C=)
19	g.35842293G>T	CA2584602288	NPHS1	c.2507-13C>A (n.2507-13C>A)	gnomAD v4
19	g.35842294_35842298del	CA2333847442	NPHS1	c.2507-17_2507-13del (n.2507-17_2507-13del)	dbSNP
19	g.35842294G>A	CA9390099	NPHS1	c.2507-14C>T (n.2507-14C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35842294G>C	CA2333847445	NPHS1	c.2507-14C>G (n.2507-14C>G)	dbSNP
19	g.35842294G=	CA2333847444	NPHS1	c.2507-14C= (n.2507-14C=)
19	g.35842295G>A	CA2584602289	NPHS1	c.2507-15C>T (n.2507-15C>T)	gnomAD v4
19	g.35842295G>T	CA2584602290	NPHS1	c.2507-15C>A (n.2507-15C>A)	gnomAD v4
19	g.35842296C>A	CA2814252488	NPHS1	c.2507-16G>T (n.2507-16G>T)
19	g.35842296C>G	CA2584602291	NPHS1	c.2507-16G>C (n.2507-16G>C)	gnomAD v4
19	g.35842298G>A	CA2584602292	NPHS1	c.2507-18C>T (n.2507-18C>T)	gnomAD v4
19	g.35842298G>T	CA2568066178	NPHS1	c.2507-18C>A (n.2507-18C>A)
19	g.35842299T>A	CA9390100	NPHS1	c.2507-19A>T (n.2507-19A>T)	ClinVar dbSNP ExAC gnomAD v2
19	g.35842299T=	CA2333847446	NPHS1	c.2507-19A= (n.2507-19A=)
19	g.35842300C>A	CA657134838	NPHS1	c.2507-20G>T (n.2507-20G>T)	COSMIC
19	g.35842300C=	CA2333847447	NPHS1	c.2507-20G= (n.2507-20G=)
19	g.35842300C>G	CA2576758772	NPHS1	c.2507-20G>C (n.2507-20G>C)
19	g.35842300C>T	CA9390101	NPHS1	c.2507-20G>A (n.2507-20G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35842303del	CA2584602293	NPHS1	c.2507-23del (n.2507-23del)	gnomAD v4
19	g.35842304A>G	CA2582125009	NPHS1	c.2507-24T>C (n.2507-24T>C)	dbSNP gnomAD v3 gnomAD v4
19	g.35842305T>C	CA2584602294	NPHS1	c.2507-25A>G (n.2507-25A>G)	gnomAD v4
19	g.35842305T>G	CA995499267	NPHS1	c.2507-25A>C (n.2507-25A>C)	dbSNP gnomAD v3 gnomAD v4
19	g.35842305T=	CA2333847448	NPHS1	c.2507-25A= (n.2507-25A=)
19	g.35842307A=	CA2333847449	NPHS1	c.2507-27T= (n.2507-27T=)
19	g.35842307A>G	CA995499269	NPHS1	c.2507-27T>C (n.2507-27T>C)	dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched