Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
19	g.35850950C=	CA2333851589	NPHS1	c.526+11G= (n.526+11G=)
19	g.35850950C>T	CA881821634	NPHS1	c.526+11G>A (n.526+11G>A)	dbSNP gnomAD v3 gnomAD v4
19	g.35850952C=	CA2333851590	NPHS1	c.526+9G= (n.526+9G=)
19	g.35850952C>G	CA2584604386	NPHS1	c.526+9G>C (n.526+9G>C)	gnomAD v4
19	g.35850952C>T	CA9390784	NPHS1	c.526+9G>A (n.526+9G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35850954C=	CA2333851591	NPHS1	c.526+7G= (n.526+7G=)
19	g.35850954C>T	CA9390785	NPHS1	c.526+7G>A (n.526+7G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35850955A>T	CA2576759062	NPHS1	c.526+6T>A (n.526+6T>A)	gnomAD v4
19	g.35850955_35850957delinsACT	CA2333851592	NPHS1	c.526+4_526+6delinsAGT (n.526+4_526+6delinsAGT)
19	g.35850956C>A	CA2584604387	NPHS1	c.526+5G>T (n.526+5G>T)	gnomAD v4
19	g.35850956C=	CA2333851593	NPHS1	c.526+5G= (n.526+5G=)
19	g.35850956C>G	CA250253	NPHS1	c.526+5G>C (n.526+5G>C)	ClinVar dbSNP
19	g.35850956C>T	CA881821641	NPHS1	c.526+5G>A (n.526+5G>A)	dbSNP gnomAD v3 gnomAD v4
19	g.35850957_35850958del	CA632776802	NPHS1	c.526+4_526+5del (n.526+4_526+5del)	dbSNP gnomAD v2 gnomAD v4
19	g.35850957T>C	CA2584604389	NPHS1	c.526+4A>G (n.526+4A>G)	gnomAD v4
19	g.35850957_35851031del	CA2584604388	NPHS1	c.456_526+4del	gnomAD v4
19	g.35850958C=	CA2333851594	NPHS1	c.526+3G= (n.526+3G=)
19	g.35850958C>G	CA9390787	NPHS1	c.526+3G>C (n.526+3G>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35850958C>T	CA9390786	NPHS1	c.526+3G>A (n.526+3G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35850959A>C	CA405409646	NPHS1	c.526+2T>G (n.526+2T>G)
19	g.35850959A>G	CA405409649	NPHS1	c.526+2T>C (n.526+2T>C)
19	g.35850959A>T	CA405409650	NPHS1	c.526+2T>A (n.526+2T>A)
19	g.35850960C>A	CA405409654	NPHS1	c.526+1G>T (n.526+1G>T)
19	g.35850960C=	CA2333851595	NPHS1	c.526+1G= (n.526+1G=)
19	g.35850960C>G	CA9390788	NPHS1	c.526+1G>C (n.526+1G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35850960C>T	CA405409653	NPHS1	c.526+1G>A (n.526+1G>A)
19	g.35850961_35850962del	CA2695228647	NPHS1	c.526_526+1del
19	g.35850961T>A	CA405409657	NPHS1	c.526A>T (p.Ser176Cys)
19	g.35850961T>C	CA405409658	NPHS1	c.526A>G (p.Ser176Gly)
19	g.35850961T>G	CA405409660	NPHS1	c.526A>C (p.Ser176Arg)
19	g.35850962C>A	CA507085974	NPHS1	c.525G>T (p.Leu175=)
19	g.35850962C=	CA2333851596	NPHS1	c.525G= (p.Leu175=)
19	g.35850962C>G	CA507085975	NPHS1	c.525G>C (p.Leu175=)
19	g.35850962C>T	CA9390789	NPHS1	c.525G>A (p.Leu175=)	dbSNP ExAC gnomAD v2
19	g.35850963A>C	CA405409663	NPHS1	c.524T>G (p.Leu175Arg)
19	g.35850963A>G	CA405409665	NPHS1	c.524T>C (p.Leu175Pro)
19	g.35850963A>T	CA405409667	NPHS1	c.524T>A (p.Leu175Gln)
19	g.35850964G>A	CA507085976	NPHS1	c.523C>T (p.Leu175=)	ClinVar dbSNP gnomAD v4
19	g.35850964G>C	CA405409669	NPHS1	c.523C>G (p.Leu175Val)
19	g.35850964G>T	CA405409671	NPHS1	c.523C>A (p.Leu175Met)
19	g.35850965del	CA2584604390	NPHS1	c.523del (p.Leu175Ter)	gnomAD v4
19	g.35850965G>A	CA507085977	NPHS1	c.522C>T (p.Leu174=)	gnomAD v4
19	g.35850965G>C	CA507085978	NPHS1	c.522C>G (p.Leu174=)
19	g.35850965G>T	CA507085979	NPHS1	c.522C>A (p.Leu174=)
19	g.35850966A>C	CA405409673	NPHS1	c.521T>G (p.Leu174Arg)
19	g.35850966A>G	CA405409675	NPHS1	c.521T>C (p.Leu174Pro)
19	g.35850966A>T	CA405409677	NPHS1	c.521T>A (p.Leu174His)
19	g.35850967G>A	CA307790128	NPHS1	c.520C>T (p.Leu174Phe)	dbSNP gnomAD v4
19	g.35850967G>C	CA405409680	NPHS1	c.520C>G (p.Leu174Val)
19	g.35850967G=	CA2333851597	NPHS1	c.520C= (p.Leu174=)
19	g.35850967G>T	CA405409678	NPHS1	c.520C>A (p.Leu174Ile)	COSMIC
19	g.35850968A>C	CA405409683	NPHS1	c.519T>G (p.Ile173Met)
19	g.35850968A>G	CA507085980	NPHS1	c.519T>C (p.Ile173=)	ClinVar
19	g.35850968A>T	CA507085981	NPHS1	c.519T>A (p.Ile173=)
19	g.35850969A=	CA2333851599	NPHS1	c.518T= (p.Ile173=)
19	g.35850969A>C	CA405409684	NPHS1	c.518T>G (p.Ile173Ser)
19	g.35850969A>G	CA405409685	NPHS1	c.518T>C (p.Ile173Thr)
19	g.35850969A>T	CA250251	NPHS1	c.518T>A (p.Ile173Asn)	ClinVar dbSNP
19	g.35850969_35850972delinsATGG	CA2333851598	NPHS1	c.515_518delinsCCAT (p.Thr172=)
19	g.35850970T>A	CA405409689	NPHS1	c.517A>T (p.Ile173Phe)
19	g.35850970T>C	CA405409691	NPHS1	c.517A>G (p.Ile173Val)	gnomAD v4
19	g.35850970T>G	CA405409693	NPHS1	c.517A>C (p.Ile173Leu)
19	g.35850970_35850971delinsTG	CA2333851600	NPHS1	c.516_517delinsCA (p.Thr172=)
19	g.35850972_35850974del	CA250247	NPHS1	c.515_517del (p.Thr172del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35850971G>A	CA507085982	NPHS1	c.516C>T (p.Thr172=)	ClinVar dbSNP gnomAD v4
19	g.35850971G>C	CA507085983	NPHS1	c.516C>G (p.Thr172=)	ClinVar
19	g.35850971G>T	CA507085984	NPHS1	c.516C>A (p.Thr172=)	gnomAD v4
19	g.35850972del	CA250250	NPHS1	c.516del (p.Ile173PhefsTer3)	ClinVar dbSNP
19	g.35850972G>A	CA405409697	NPHS1	c.515C>T (p.Thr172Ile)
19	g.35850972G>C	CA405409698	NPHS1	c.515C>G (p.Thr172Ser)
19	g.35850972G=	CA2333851601	NPHS1	c.515C= (p.Thr172=)
19	g.35850972G>T	CA9390790	NPHS1	c.515C>A (p.Thr172Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35850973del	CA2695228648	NPHS1	c.514del (p.Thr172ProfsTer4)
19	g.35850973T>A	CA405409702	NPHS1	c.514A>T (p.Thr172Ser)
19	g.35850973T>C	CA405409705	NPHS1	c.514A>G (p.Thr172Ala)	dbSNP gnomAD v2
19	g.35850973T>G	CA405409708	NPHS1	c.514A>C (p.Thr172Pro)
19	g.35850973T=	CA2333851602	NPHS1	c.514A= (p.Thr172=)
19	g.35850974G>A	CA507085986	NPHS1	c.513C>T (p.Ile171=)	COSMIC
19	g.35850974G>C	CA405409711	NPHS1	c.513C>G (p.Ile171Met)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.35850974G=	CA2333851603	NPHS1	c.513C= (p.Ile171=)
19	g.35850974G>T	CA507085985	NPHS1	c.513C>A (p.Ile171=)
19	g.35850975A=	CA2333851604	NPHS1	c.512T= (p.Ile171=)
19	g.35850975A>C	CA405409713	NPHS1	c.512T>G (p.Ile171Ser)
19	g.35850975A>G	CA405409716	NPHS1	c.512T>C (p.Ile171Thr)	gnomAD v4
19	g.35850975A>T	CA250245	NPHS1	c.512T>A (p.Ile171Asn)	ClinVar dbSNP
19	g.35850976T>A	CA405409720	NPHS1	c.511A>T (p.Ile171Phe)
19	g.35850976T>C	CA405409722	NPHS1	c.511A>G (p.Ile171Val)	dbSNP gnomAD v3 gnomAD v4
19	g.35850976T>G	CA405409725	NPHS1	c.511A>C (p.Ile171Leu)
19	g.35850976T=	CA2333851605	NPHS1	c.511A= (p.Ile171=)
19	g.35850977G>A	CA507085987	NPHS1	c.510C>T (p.Asp170=)	gnomAD v4
19	g.35850977G>C	CA405409727	NPHS1	c.510C>G (p.Asp170Glu)
19	g.35850977G>T	CA405409729	NPHS1	c.510C>A (p.Asp170Glu)
19	g.35850978T>A	CA405409733	NPHS1	c.509A>T (p.Asp170Val)
19	g.35850978T>C	CA405409736	NPHS1	c.509A>G (p.Asp170Gly)
19	g.35850978T>G	CA405409738	NPHS1	c.509A>C (p.Asp170Ala)
19	g.35850979del	CA2580096895	NPHS1	c.508del (p.Asp170ThrfsTer6)	ClinVar
19	g.35850979C>A	CA405409742	NPHS1	c.508G>T (p.Asp170Tyr)	gnomAD v4
19	g.35850979C=	CA2333851606	NPHS1	c.508G= (p.Asp170=)
19	g.35850979C>G	CA405409744	NPHS1	c.508G>C (p.Asp170His)	dbSNP gnomAD v2 gnomAD v4
19	g.35850979C>T	CA405409746	NPHS1	c.508G>A (p.Asp170Asn)	dbSNP gnomAD v2 gnomAD v4
19	g.35850980A>C	CA507085988	NPHS1	c.507T>G (p.Pro169=)
19	g.35850980A>G	CA507085989	NPHS1	c.507T>C (p.Pro169=)	ClinVar dbSNP
19	g.35850980A>T	CA507085990	NPHS1	c.507T>A (p.Pro169=)	gnomAD v4
19	g.35850981G>A	CA405409753	NPHS1	c.506C>T (p.Pro169Leu)
19	g.35850981G>C	CA405409756	NPHS1	c.506C>G (p.Pro169Arg)
19	g.35850981G>T	CA405409751	NPHS1	c.506C>A (p.Pro169His)
19	g.35850982G>A	CA405409759	NPHS1	c.505C>T (p.Pro169Ser)	dbSNP gnomAD v4
19	g.35850982G>C	CA405409763	NPHS1	c.505C>G (p.Pro169Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.35850982G=	CA2333851607	NPHS1	c.505C= (p.Pro169=)
19	g.35850982G>T	CA10652380	NPHS1	c.505C>A (p.Pro169Thr)	ClinVar dbSNP gnomAD v4
19	g.35850983T>A	CA507085991	NPHS1	c.504A>T (p.Ala168=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.35850983T>C	CA507085992	NPHS1	c.504A>G (p.Ala168=)	gnomAD v4
19	g.35850983T>G	CA507085993	NPHS1	c.504A>C (p.Ala168=)	gnomAD v4
19	g.35850983T=	CA2333851608	NPHS1	c.504A= (p.Ala168=)
19	g.35850984G>A	CA405409765	NPHS1	c.503C>T (p.Ala168Val)
19	g.35850984G>C	CA405409766	NPHS1	c.503C>G (p.Ala168Gly)
19	g.35850984G=	CA2333851609	NPHS1	c.503C= (p.Ala168=)
19	g.35850984G>T	CA9390791	NPHS1	c.503C>A (p.Ala168Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35850985del	CA2584604391	NPHS1	c.502del (p.Ala168HisfsTer8)	gnomAD v4
19	g.35850985C>A	CA405409774	NPHS1	c.502G>T (p.Ala168Ser)
19	g.35850985C>G	CA405409776	NPHS1	c.502G>C (p.Ala168Pro)
19	g.35850985C>T	CA405409779	NPHS1	c.502G>A (p.Ala168Thr)
19	g.35850986T>A	CA507086006	NPHS1	c.501A>T (p.Pro167=)
19	g.35850986T>C	CA507086007	NPHS1	c.501A>G (p.Pro167=)	ClinVar
19	g.35850986T>G	CA507086009	NPHS1	c.501A>C (p.Pro167=)
19	g.35850987G>A	CA250243	NPHS1	c.500C>T (p.Pro167Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35850987G>C	CA405409784	NPHS1	c.500C>G (p.Pro167Arg)
19	g.35850987G=	CA2333851610	NPHS1	c.500C= (p.Pro167=)
19	g.35850987G>T	CA405409786	NPHS1	c.500C>A (p.Pro167Gln)
19	g.35850988G>A	CA405409790	NPHS1	c.499C>T (p.Pro167Ser)	dbSNP gnomAD v2 gnomAD v4
19	g.35850988G>C	CA405409793	NPHS1	c.499C>G (p.Pro167Ala)
19	g.35850988G=	CA2333851611	NPHS1	c.499C= (p.Pro167=)
19	g.35850988G>T	CA405409796	NPHS1	c.499C>A (p.Pro167Thr)
19	g.35850989C>A	CA405409798	NPHS1	c.498G>T (p.Lys166Asn)	gnomAD v4
19	g.35850989C=	CA2333851612	NPHS1	c.498G= (p.Lys166=)
19	g.35850989C>G	CA405409800	NPHS1	c.498G>C (p.Lys166Asn)
19	g.35850989C>T	CA507086020	NPHS1	c.498G>A (p.Lys166=)	dbSNP gnomAD v3 gnomAD v4
19	g.35850990T>A	CA405409803	NPHS1	c.497A>T (p.Lys166Met)
19	g.35850990T>C	CA405409804	NPHS1	c.497A>G (p.Lys166Arg)
19	g.35850990T>G	CA405409806	NPHS1	c.497A>C (p.Lys166Thr)
19	g.35850990_35850991insC	CA2584604392	NPHS1	c.496_497insG (p.Lys166ArgfsTer5)	gnomAD v4
19	g.35850991T>A	CA405409809	NPHS1	c.496A>T (p.Lys166Ter)
19	g.35850991T>C	CA405409810	NPHS1	c.496A>G (p.Lys166Glu)
19	g.35850991T>G	CA405409812	NPHS1	c.496A>C (p.Lys166Gln)
19	g.35850992C>A	CA507086030	NPHS1	c.495G>T (p.Ala165=)
19	g.35850992C=	CA2333851613	NPHS1	c.495G= (p.Ala165=)
19	g.35850992C>G	CA507086032	NPHS1	c.495G>C (p.Ala165=)
19	g.35850992C>T	CA9390792	NPHS1	c.495G>A (p.Ala165=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35850993G>A	CA9390793	NPHS1	c.494C>T (p.Ala165Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35850993G>C	CA405409818	NPHS1	c.494C>G (p.Ala165Gly)
19	g.35850993G=	CA2333851614	NPHS1	c.494C= (p.Ala165=)
19	g.35850993G>T	CA405409819	NPHS1	c.494C>A (p.Ala165Glu)
19	g.35850993_35850994insGT	CA2584604393	NPHS1	c.493_494insAC (p.Ala165AspfsTer12)	gnomAD v4
19	g.35850994C>A	CA405409823	NPHS1	c.493G>T (p.Ala165Ser)
19	g.35850994C=	CA2333851615	NPHS1	c.493G= (p.Ala165=)
19	g.35850994C>G	CA405409825	NPHS1	c.493G>C (p.Ala165Pro)	gnomAD v4
19	g.35850994C>T	CA9390794	NPHS1	c.493G>A (p.Ala165Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35850995G>A	CA9390795	NPHS1	c.492C>T (p.Asp164=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35850995G>C	CA405409831	NPHS1	c.492C>G (p.Asp164Glu)
19	g.35850995G=	CA2333851616	NPHS1	c.492C= (p.Asp164=)
19	g.35850995G>T	CA405409829	NPHS1	c.492C>A (p.Asp164Glu)
19	g.35850996T>A	CA405409834	NPHS1	c.491A>T (p.Asp164Val)	gnomAD v4
19	g.35850996T>C	CA405409837	NPHS1	c.491A>G (p.Asp164Gly)
19	g.35850996T>G	CA405409839	NPHS1	c.491A>C (p.Asp164Ala)
19	g.35850997C>A	CA405409842	NPHS1	c.490G>T (p.Asp164Tyr)
19	g.35850997C>G	CA405409845	NPHS1	c.490G>C (p.Asp164His)
19	g.35850997C>T	CA405409848	NPHS1	c.490G>A (p.Asp164Asn)
19	g.35851000del	CA2695198182	NPHS1	c.490del (p.Asp164ThrfsTer12)	ClinVar
19	g.35850998C>A	CA507086051	NPHS1	c.489G>T (p.Gly163=)
19	g.35850998C>G	CA507086053	NPHS1	c.489G>C (p.Gly163=)	gnomAD v4
19	g.35850998C>T	CA507086055	NPHS1	c.489G>A (p.Gly163=)	ClinVar
19	g.35850999C>A	CA405409850	NPHS1	c.488G>T (p.Gly163Val)
19	g.35850999C>G	CA405409853	NPHS1	c.488G>C (p.Gly163Ala)
19	g.35850999C>T	CA405409856	NPHS1	c.488G>A (p.Gly163Glu)
19	g.35851000C>A	CA405409859	NPHS1	c.487G>T (p.Gly163Trp)
19	g.35851000C>G	CA405409862	NPHS1	c.487G>C (p.Gly163Arg)
19	g.35851000C>T	CA405409864	NPHS1	c.487G>A (p.Gly163Arg)
19	g.35851001A=	CA2333851617	NPHS1	c.486T= (p.Ser162=)
19	g.35851001A>C	CA507086063	NPHS1	c.486T>G (p.Ser162=)
19	g.35851001A>G	CA507086065	NPHS1	c.486T>C (p.Ser162=)
19	g.35851001A>T	CA307790210	NPHS1	c.486T>A (p.Ser162=)	dbSNP
19	g.35851001_35851009del	CA2584604394	NPHS1	c.478_486del (p.Cys160_Ser162del)	gnomAD v4
19	g.35851002G>A	CA405409874	NPHS1	c.485C>T (p.Ser162Phe)	COSMIC
19	g.35851002G>C	CA9390796	NPHS1	c.485C>G (p.Ser162Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35851002G=	CA2333851618	NPHS1	c.485C= (p.Ser162=)
19	g.35851002G>T	CA405409871	NPHS1	c.485C>A (p.Ser162Tyr)
19	g.35851003A=	CA2333851619	NPHS1	c.484T= (p.Ser162=)
19	g.35851003A>C	CA405409878	NPHS1	c.484T>G (p.Ser162Ala)
19	g.35851003A>G	CA9390797	NPHS1	c.484T>C (p.Ser162Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35851003A>T	CA307790226	NPHS1	c.484T>A (p.Ser162Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.35851008_35851009del	CA2580612605	NPHS1	c.483_484del (p.Ser162TrpfsTer8)	ClinVar
19	g.35851004C>A	CA507086079	NPHS1	c.483G>T (p.Val161=)	gnomAD v4
19	g.35851004C>G	CA507086083	NPHS1	c.483G>C (p.Val161=)
19	g.35851004C>T	CA507086081	NPHS1	c.483G>A (p.Val161=)
19	g.35851005A=	CA2333851620	NPHS1	c.482T= (p.Val161=)
19	g.35851005A>C	CA405409883	NPHS1	c.482T>G (p.Val161Gly)
19	g.35851005A>G	CA405409886	NPHS1	c.482T>C (p.Val161Ala)	dbSNP gnomAD v4
19	g.35851005A>T	CA405409889	NPHS1	c.482T>A (p.Val161Glu)	dbSNP
19	g.35851008_35851009insCCAACAC	CA2814252844	NPHS1	c.482_483insTGGGTGT (p.Ser162GlyfsTer11)
19	g.35851006C>A	CA405409893	NPHS1	c.481G>T (p.Val161Leu)	gnomAD v4
19	g.35851006C>G	CA405409895	NPHS1	c.481G>C (p.Val161Leu)	gnomAD v4
19	g.35851006C>T	CA405409898	NPHS1	c.481G>A (p.Val161Met)
19	g.35851007A>C	CA405409901	NPHS1	c.480T>G (p.Cys160Trp)
19	g.35851007A>G	CA507086093	NPHS1	c.480T>C (p.Cys160=)
19	g.35851007A>T	CA405409902	NPHS1	c.480T>A (p.Cys160Ter)
19	g.35851007dup	CA2584604395	NPHS1	c.480dup (p.Val161CysfsTer10)	gnomAD v4
19	g.35851008C>A	CA405409906	NPHS1	c.479G>T (p.Cys160Phe)
19	g.35851008C=	CA2333851621	NPHS1	c.479G= (p.Cys160=)
19	g.35851008C>G	CA250240	NPHS1	c.479G>C (p.Cys160Ser)	ClinVar dbSNP
19	g.35851008C>T	CA405409909	NPHS1	c.479G>A (p.Cys160Tyr)	ClinVar dbSNP gnomAD v4
19	g.35851009A>C	CA405409914	NPHS1	c.478T>G (p.Cys160Gly)
19	g.35851009A>G	CA405409919	NPHS1	c.478T>C (p.Cys160Arg)	gnomAD v4
19	g.35851009A>T	CA405409916	NPHS1	c.478T>A (p.Cys160Ser)	gnomAD v4
19	g.35851010G>A	CA9390798	NPHS1	c.477C>T (p.Asn159=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35851010G>C	CA405409923	NPHS1	c.477C>G (p.Asn159Lys)
19	g.35851010G=	CA2333851622	NPHS1	c.477C= (p.Asn159=)
19	g.35851010G>T	CA405409925	NPHS1	c.477C>A (p.Asn159Lys)
19	g.35851011T>A	CA405409929	NPHS1	c.476A>T (p.Asn159Ile)	dbSNP
19	g.35851011T>C	CA9390799	NPHS1	c.476A>G (p.Asn159Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35851011T>G	CA405409932	NPHS1	c.476A>C (p.Asn159Thr)
19	g.35851011T=	CA2333851623	NPHS1	c.476A= (p.Asn159=)
19	g.35851012T>A	CA405409936	NPHS1	c.475A>T (p.Asn159Tyr)	ClinVar dbSNP gnomAD v4
19	g.35851012T>C	CA405409938	NPHS1	c.475A>G (p.Asn159Asp)
19	g.35851012T>G	CA405409940	NPHS1	c.475A>C (p.Asn159His)
19	g.35851012T=	CA2333851624	NPHS1	c.475A= (p.Asn159=)
19	g.35851012_35851013del	CA2584604396	NPHS1	c.474_475del (p.Asn159LeufsTer11)	gnomAD v4
19	g.35851013G>A	CA507086112	NPHS1	c.474C>T (p.Val158=)
19	g.35851013G>C	CA507086114	NPHS1	c.474C>G (p.Val158=)
19	g.35851013G>T	CA507086117	NPHS1	c.474C>A (p.Val158=)	gnomAD v4
19	g.35851014A>C	CA405409946	NPHS1	c.473T>G (p.Val158Gly)
19	g.35851014A>G	CA405409948	NPHS1	c.473T>C (p.Val158Ala)
19	g.35851014A>T	CA405409951	NPHS1	c.473T>A (p.Val158Asp)
19	g.35851015C>A	CA405409957	NPHS1	c.472G>T (p.Val158Phe)
19	g.35851015C=	CA2333851625	NPHS1	c.472G= (p.Val158=)
19	g.35851015C>G	CA405409953	NPHS1	c.472G>C (p.Val158Leu)
19	g.35851015C>T	CA307790233	NPHS1	c.472G>A (p.Val158Ile)	dbSNP gnomAD v4
19	g.35851015_35851016insTT	CA2517136596	NPHS1	c.471_472insAA (p.Val158LysfsTer19)
19	g.35851016C>A	CA507086126	NPHS1	c.471G>T (p.Val157=)	ClinVar dbSNP
19	g.35851016C=	CA2333851626	NPHS1	c.471G= (p.Val157=)
19	g.35851016C>G	CA507086129	NPHS1	c.471G>C (p.Val157=)
19	g.35851016C>T	CA507086132	NPHS1	c.471G>A (p.Val157=)	ClinVar dbSNP
19	g.35851017A=	CA2333851627	NPHS1	c.470T= (p.Val157=)
19	g.35851017A>C	CA405409961	NPHS1	c.470T>G (p.Val157Gly)
19	g.35851017A>G	CA9390800	NPHS1	c.470T>C (p.Val157Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35851017A>T	CA405409964	NPHS1	c.470T>A (p.Val157Glu)
19	g.35851018C>A	CA405409967	NPHS1	c.469G>T (p.Val157Leu)
19	g.35851018C=	CA2333851628	NPHS1	c.469G= (p.Val157=)
19	g.35851018C>G	CA405409969	NPHS1	c.469G>C (p.Val157Leu)	dbSNP
19	g.35851018C>T	CA9390801	NPHS1	c.469G>A (p.Val157Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35851018_35851019del	CA2549546144	NPHS1	c.468_469del (p.Val157GlyfsTer13)	gnomAD v4
19	g.35851019G>A	CA507086143	NPHS1	c.468C>T (p.Tyr156=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.35851019G>C	CA250237	NPHS1	c.468C>G (p.Tyr156Ter)	ClinVar dbSNP gnomAD v4
19	g.35851019G=	CA2333851629	NPHS1	c.468C= (p.Tyr156=)
19	g.35851019G>T	CA405409975	NPHS1	c.468C>A (p.Tyr156Ter)
19	g.35851020T>A	CA405409979	NPHS1	c.467A>T (p.Tyr156Phe)
19	g.35851020T>C	CA405409982	NPHS1	c.467A>G (p.Tyr156Cys)
19	g.35851020T>G	CA405409984	NPHS1	c.467A>C (p.Tyr156Ser)
19	g.35851020_35851021insTAAAAAAAAAA	CA2584604397	NPHS1	c.466_467insTTTTTTTTTTA (p.Tyr156PhefsTer24)	gnomAD v4
19	g.35851021A>C	CA405409991	NPHS1	c.466T>G (p.Tyr156Asp)
19	g.35851021A>G	CA405409990	NPHS1	c.466T>C (p.Tyr156His)
19	g.35851021A>T	CA405409988	NPHS1	c.466T>A (p.Tyr156Asn)
19	g.35851021dup	CA2580617861	NPHS1	c.466dup (p.Tyr156LeufsTer15)	ClinVar
19	g.35851022C>A	CA405409996	NPHS1	c.465G>T (p.Glu155Asp)
19	g.35851022C>G	CA405409994	NPHS1	c.465G>C (p.Glu155Asp)
19	g.35851022C>T	CA507086156	NPHS1	c.465G>A (p.Glu155=)
19	g.35851023T>A	CA405409999	NPHS1	c.464A>T (p.Glu155Val)	gnomAD v4
19	g.35851023T>C	CA405410000	NPHS1	c.464A>G (p.Glu155Gly)
19	g.35851023T>G	CA405410002	NPHS1	c.464A>C (p.Glu155Ala)
19	g.35851024C>A	CA405410004	NPHS1	c.463G>T (p.Glu155Ter)
19	g.35851024C>G	CA405410006	NPHS1	c.463G>C (p.Glu155Gln)	gnomAD v4
19	g.35851024C>T	CA405410009	NPHS1	c.463G>A (p.Glu155Lys)	COSMIC
19	g.35851025C>A	CA405410010	NPHS1	c.462G>T (p.Gln154His)
19	g.35851025C=	CA2333851630	NPHS1	c.462G= (p.Gln154=)
19	g.35851025C>G	CA405410011	NPHS1	c.462G>C (p.Gln154His)
19	g.35851025C>T	CA9390802	NPHS1	c.462G>A (p.Gln154=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35851026T>A	CA405410014	NPHS1	c.461A>T (p.Gln154Leu)
19	g.35851026T>C	CA405410016	NPHS1	c.461A>G (p.Gln154Arg)
19	g.35851026T>G	CA405410017	NPHS1	c.461A>C (p.Gln154Pro)
19	g.35851026_35851027delinsTG	CA2333851631	NPHS1	c.460_461delinsCA (p.Gln154=)
19	g.35851027del	CA891863066	NPHS1	c.460del (p.Gln154ArgfsTer22)	ClinVar dbSNP
19	g.35851027G>A	CA405410022	NPHS1	c.460C>T (p.Gln154Ter)
19	g.35851027G>C	CA405410020	NPHS1	c.460C>G (p.Gln154Glu)
19	g.35851027G=	CA2333851632	NPHS1	c.460C= (p.Gln154=)
19	g.35851027G>T	CA405410021	NPHS1	c.460C>A (p.Gln154Lys)	dbSNP gnomAD v2 gnomAD v4
19	g.35851028C>A	CA507086182	NPHS1	c.459G>T (p.Gly153=)
19	g.35851028C>G	CA507086180	NPHS1	c.459G>C (p.Gly153=)
19	g.35851028C>T	CA507086178	NPHS1	c.459G>A (p.Gly153=)
19	g.35851030del	CA2573156268	NPHS1	c.459del (p.Gln154ArgfsTer22)	ClinVar dbSNP
19	g.35851029C>A	CA405410024	NPHS1	c.458G>T (p.Gly153Val)
19	g.35851029C>G	CA405410026	NPHS1	c.458G>C (p.Gly153Ala)
19	g.35851029C>T	CA405410027	NPHS1	c.458G>A (p.Gly153Glu)
19	g.35851030C>A	CA405410028	NPHS1	c.457G>T (p.Gly153Trp)
19	g.35851030C>G	CA405410031	NPHS1	c.457G>C (p.Gly153Arg)
19	g.35851030C>T	CA405410034	NPHS1	c.457G>A (p.Gly153Arg)	COSMIC
19	g.35851030_35851031delinsCA	CA2333851633	NPHS1	c.456_457delinsTG (p.Ala152=)
19	g.35851031del	CA2333851634	NPHS1	c.456del (p.Gln154ArgfsTer22)	ClinVar dbSNP
19	g.35851031A>C	CA507086191	NPHS1	c.456T>G (p.Ala152=)
19	g.35851031A>G	CA507086196	NPHS1	c.456T>C (p.Ala152=)	ClinVar dbSNP gnomAD v4
19	g.35851031A>T	CA507086194	NPHS1	c.456T>A (p.Ala152=)
19	g.35851032G>A	CA405410037	NPHS1	c.455C>T (p.Ala152Val)	gnomAD v4
19	g.35851032G>C	CA405410038	NPHS1	c.455C>G (p.Ala152Gly)
19	g.35851032G>T	CA405410041	NPHS1	c.455C>A (p.Ala152Asp)
19	g.35851033C>A	CA405410046	NPHS1	c.454G>T (p.Ala152Ser)
19	g.35851033C=	CA2333851635	NPHS1	c.454G= (p.Ala152=)
19	g.35851033C>G	CA405410049	NPHS1	c.454G>C (p.Ala152Pro)
19	g.35851033C>T	CA405410052	NPHS1	c.454G>A (p.Ala152Thr)	dbSNP gnomAD v3 gnomAD v4
19	g.35851033_35851043delinsGTGT	CA2695198183	NPHS1	c.444_454delinsACAC (p.Thr149HisfsTer25)	ClinVar
19	g.35851034T>A	CA507086204	NPHS1	c.453A>T (p.Val151=)	gnomAD v4
19	g.35851034T>C	CA507086205	NPHS1	c.453A>G (p.Val151=)
19	g.35851034T>G	CA507086207	NPHS1	c.453A>C (p.Val151=)
19	g.35851034_35851043delinsTACCCAGGTG	CA2333851636	NPHS1	c.444_453delinsCACCTGGGTA (p.Val148=)
19	g.35851035A>C	CA405410060	NPHS1	c.452T>G (p.Val151Gly)
19	g.35851035A>G	CA405410063	NPHS1	c.452T>C (p.Val151Ala)
19	g.35851035A>T	CA405410056	NPHS1	c.452T>A (p.Val151Glu)
19	g.35851038_35851046del	CA891863067	NPHS1	c.444_452del (p.Thr149_Val151del)	ClinVar dbSNP
19	g.35851036C>A	CA405410066	NPHS1	c.451G>T (p.Val151Leu)
19	g.35851036C=	CA2333851637	NPHS1	c.451G= (p.Val151=)
19	g.35851036C>G	CA405410069	NPHS1	c.451G>C (p.Val151Leu)
19	g.35851036C>T	CA405410068	NPHS1	c.451G>A (p.Val151Ile)	ClinVar dbSNP
19	g.35851037C>A	CA405410074	NPHS1	c.450G>T (p.Trp150Cys)
19	g.35851037C>G	CA405410075	NPHS1	c.450G>C (p.Trp150Cys)
19	g.35851037C>T	CA405410077	NPHS1	c.450G>A (p.Trp150Ter)	ClinVar dbSNP
19	g.35851038C>A	CA405410079	NPHS1	c.449G>T (p.Trp150Leu)
19	g.35851038C=	CA2333851638	NPHS1	c.449G= (p.Trp150=)
19	g.35851038C>G	CA405410082	NPHS1	c.449G>C (p.Trp150Ser)
19	g.35851038C>T	CA405410085	NPHS1	c.449G>A (p.Trp150Ter)	dbSNP
19	g.35851039A>C	CA405410089	NPHS1	c.448T>G (p.Trp150Gly)
19	g.35851039A>G	CA405410091	NPHS1	c.448T>C (p.Trp150Arg)
19	g.35851039A>T	CA405410093	NPHS1	c.448T>A (p.Trp150Arg)
19	g.35851040G>A	CA507086234	NPHS1	c.447C>T (p.Thr149=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.35851040G>C	CA307790260	NPHS1	c.447C>G (p.Thr149=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.35851040G=	CA2333851639	NPHS1	c.447C= (p.Thr149=)
19	g.35851040G>T	CA507086237	NPHS1	c.447C>A (p.Thr149=)	COSMIC
19	g.35851044_35851052del	CA2584604398	NPHS1	c.439_447del (p.Met147_Thr149del)	gnomAD v4
19	g.35851041G>A	CA405410098	NPHS1	c.446C>T (p.Thr149Ile)	dbSNP gnomAD v4
19	g.35851041G>C	CA405410100	NPHS1	c.446C>G (p.Thr149Ser)
19	g.35851041G>T	CA405410103	NPHS1	c.446C>A (p.Thr149Asn)
19	g.35851042T>A	CA405410106	NPHS1	c.445A>T (p.Thr149Ser)
19	g.35851042T>C	CA405410110	NPHS1	c.445A>G (p.Thr149Ala)
19	g.35851042T>G	CA405410108	NPHS1	c.445A>C (p.Thr149Pro)
19	g.35851043G>A	CA507086248	NPHS1	c.444C>T (p.Val148=)	gnomAD v4
19	g.35851043G>C	CA507086250	NPHS1	c.444C>G (p.Val148=)
19	g.35851043G>T	CA507086251	NPHS1	c.444C>A (p.Val148=)
19	g.35851044A>C	CA405410115	NPHS1	c.443T>G (p.Val148Gly)
19	g.35851044A>G	CA405410117	NPHS1	c.443T>C (p.Val148Ala)
19	g.35851044A>T	CA405410120	NPHS1	c.443T>A (p.Val148Asp)
19	g.35851045C>A	CA405410124	NPHS1	c.442G>T (p.Val148Phe)
19	g.35851045C>G	CA405410126	NPHS1	c.442G>C (p.Val148Leu)
19	g.35851045C>T	CA405410130	NPHS1	c.442G>A (p.Val148Ile)
19	g.35851046C>A	CA405410133	NPHS1	c.441G>T (p.Met147Ile)
19	g.35851046C=	CA2333851640	NPHS1	c.441G= (p.Met147=)
19	g.35851046C>G	CA405410136	NPHS1	c.441G>C (p.Met147Ile)
19	g.35851046C>T	CA405410139	NPHS1	c.441G>A (p.Met147Ile)	dbSNP gnomAD v2 gnomAD v4
19	g.35851047A=	CA2333851641	NPHS1	c.440T= (p.Met147=)
19	g.35851047A>C	CA405410143	NPHS1	c.440T>G (p.Met147Arg)
19	g.35851047A>G	CA307790261	NPHS1	c.440T>C (p.Met147Thr)	dbSNP
19	g.35851047A>T	CA405410142	NPHS1	c.440T>A (p.Met147Lys)
19	g.35851048T>A	CA405410149	NPHS1	c.439A>T (p.Met147Leu)
19	g.35851048T>C	CA405410151	NPHS1	c.439A>G (p.Met147Val)	dbSNP gnomAD v2 gnomAD v4
19	g.35851048T>G	CA405410153	NPHS1	c.439A>C (p.Met147Leu)
19	g.35851048T=	CA2333851642	NPHS1	c.439A= (p.Met147=)
19	g.35851049G>A	CA507086272	NPHS1	c.438C>T (p.Thr146=)
19	g.35851049G>C	CA507086274	NPHS1	c.438C>G (p.Thr146=)
19	g.35851049G>T	CA507086277	NPHS1	c.438C>A (p.Thr146=)
19	g.35851050G>A	CA405410158	NPHS1	c.437C>T (p.Thr146Ile)
19	g.35851050G>C	CA405410159	NPHS1	c.437C>G (p.Thr146Ser)
19	g.35851050G>T	CA405410161	NPHS1	c.437C>A (p.Thr146Asn)

Number of alleles fetched