Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
19	g.35849015C>A	CA9390590	NPHS1	c.973G>T (p.Ala325Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849015C=	CA2333850691	NPHS1	c.973G= (p.Ala325=)
19	g.35849015C>G	CA405406697	NPHS1	c.973G>C (p.Ala325Pro)	dbSNP gnomAD v2 gnomAD v4
19	g.35849015C>T	CA405406698	NPHS1	c.973G>A (p.Ala325Thr)	gnomAD v4
19	g.35849016A>C	CA507314379	NPHS1	c.972T>G (p.Ser324=)
19	g.35849016A>G	CA507314380	NPHS1	c.972T>C (p.Ser324=)
19	g.35849016A>T	CA507314381	NPHS1	c.972T>A (p.Ser324=)
19	g.35849017G>A	CA405406700	NPHS1	c.971C>T (p.Ser324Phe)
19	g.35849017G>C	CA405406701	NPHS1	c.971C>G (p.Ser324Cys)
19	g.35849017G>T	CA405406699	NPHS1	c.971C>A (p.Ser324Tyr)	gnomAD v4
19	g.35849018A>C	CA405406704	NPHS1	c.970T>G (p.Ser324Ala)
19	g.35849018A>G	CA405406702	NPHS1	c.970T>C (p.Ser324Pro)
19	g.35849018A>T	CA405406703	NPHS1	c.970T>A (p.Ser324Thr)
19	g.35849019C>A	CA507314383	NPHS1	c.969G>T (p.Val323=)
19	g.35849019C>G	CA507314385	NPHS1	c.969G>C (p.Val323=)
19	g.35849019C>T	CA507314384	NPHS1	c.969G>A (p.Val323=)	gnomAD v4
19	g.35849020A>C	CA405406705	NPHS1	c.968T>G (p.Val323Gly)	gnomAD v4
19	g.35849020A>G	CA405406706	NPHS1	c.968T>C (p.Val323Ala)
19	g.35849020A>T	CA405406707	NPHS1	c.968T>A (p.Val323Glu)
19	g.35849021C>A	CA405406709	NPHS1	c.967G>T (p.Val323Leu)
19	g.35849021C=	CA2333850692	NPHS1	c.967G= (p.Val323=)
19	g.35849021C>G	CA405406708	NPHS1	c.967G>C (p.Val323Leu)
19	g.35849021C>T	CA9390591	NPHS1	c.967G>A (p.Val323Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849022G>A	CA9390592	NPHS1	c.966C>T (p.Ser322=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849022G>C	CA405406710	NPHS1	c.966C>G (p.Ser322Arg)
19	g.35849022G=	CA2333850693	NPHS1	c.966C= (p.Ser322=)
19	g.35849022G>T	CA405406711	NPHS1	c.966C>A (p.Ser322Arg)
19	g.35849023C>A	CA405406712	NPHS1	c.965G>T (p.Ser322Ile)
19	g.35849023C>G	CA405406713	NPHS1	c.965G>C (p.Ser322Thr)
19	g.35849023C>T	CA405406714	NPHS1	c.965G>A (p.Ser322Asn)	gnomAD v4
19	g.35849024T>A	CA405406715	NPHS1	c.964A>T (p.Ser322Cys)
19	g.35849024T>C	CA405406717	NPHS1	c.964A>G (p.Ser322Gly)
19	g.35849024T>G	CA405406716	NPHS1	c.964A>C (p.Ser322Arg)
19	g.35849025G>A	CA507314389	NPHS1	c.963C>T (p.Asn321=)	gnomAD v4
19	g.35849025G>C	CA405406718	NPHS1	c.963C>G (p.Asn321Lys)	gnomAD v4
19	g.35849025G>T	CA405406719	NPHS1	c.963C>A (p.Asn321Lys)	COSMIC
19	g.35849026T>A	CA405406720	NPHS1	c.962A>T (p.Asn321Ile)
19	g.35849026T>C	CA405406721	NPHS1	c.962A>G (p.Asn321Ser)
19	g.35849026T>G	CA405406722	NPHS1	c.962A>C (p.Asn321Thr)
19	g.35849027T>A	CA405406723	NPHS1	c.961A>T (p.Asn321Tyr)
19	g.35849027T>C	CA405406724	NPHS1	c.961A>G (p.Asn321Asp)
19	g.35849027T>G	CA405406725	NPHS1	c.961A>C (p.Asn321His)	dbSNP gnomAD v2
19	g.35849027T=	CA2333850694	NPHS1	c.961A= (p.Asn321=)
19	g.35849028G>A	CA507314390	NPHS1	c.960C>T (p.His320=)
19	g.35849028G>C	CA405406726	NPHS1	c.960C>G (p.His320Gln)
19	g.35849028G=	CA2333850695	NPHS1	c.960C= (p.His320=)
19	g.35849028G>T	CA307787638	NPHS1	c.960C>A (p.His320Gln)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.35849029T>A	CA405406729	NPHS1	c.959A>T (p.His320Leu)
19	g.35849029T>C	CA405406728	NPHS1	c.959A>G (p.His320Arg)
19	g.35849029T>G	CA405406727	NPHS1	c.959A>C (p.His320Pro)
19	g.35849030G>A	CA405406730	NPHS1	c.958C>T (p.His320Tyr)	gnomAD v4
19	g.35849030G>C	CA405406731	NPHS1	c.958C>G (p.His320Asp)	gnomAD v4
19	g.35849030G>T	CA405406732	NPHS1	c.958C>A (p.His320Asn)	gnomAD v4
19	g.35849032del	CA2584603887	NPHS1	c.958del (p.His320ThrfsTer?)	gnomAD v4
19	g.35849031G>A	CA507314391	NPHS1	c.957C>T (p.Ala319=)
19	g.35849031G>C	CA507314393	NPHS1	c.957C>G (p.Ala319=)
19	g.35849031G=	CA2333850696	NPHS1	c.957C= (p.Ala319=)
19	g.35849031G>T	CA507314392	NPHS1	c.957C>A (p.Ala319=)	dbSNP gnomAD v2 gnomAD v4
19	g.35849032G>A	CA405406733	NPHS1	c.956C>T (p.Ala319Val)	dbSNP
19	g.35849032G>C	CA405406734	NPHS1	c.956C>G (p.Ala319Gly)
19	g.35849032G=	CA2333850697	NPHS1	c.956C= (p.Ala319=)
19	g.35849032G>T	CA405406735	NPHS1	c.956C>A (p.Ala319Asp)	gnomAD v4
19	g.35849033C>A	CA405406738	NPHS1	c.955G>T (p.Ala319Ser)
19	g.35849033C>G	CA405406736	NPHS1	c.955G>C (p.Ala319Pro)
19	g.35849033C>T	CA405406737	NPHS1	c.955G>A (p.Ala319Thr)
19	g.35849034C>A	CA405406739	NPHS1	c.954G>T (p.Glu318Asp)
19	g.35849034C>G	CA405406740	NPHS1	c.954G>C (p.Glu318Asp)
19	g.35849034C>T	CA507314397	NPHS1	c.954G>A (p.Glu318=)
19	g.35849035T>A	CA9390593	NPHS1	c.953A>T (p.Glu318Val)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35849035T>C	CA405406741	NPHS1	c.953A>G (p.Glu318Gly)
19	g.35849035T>G	CA405406742	NPHS1	c.953A>C (p.Glu318Ala)
19	g.35849035T=	CA2333850698	NPHS1	c.953A= (p.Glu318=)
19	g.35849036C>A	CA405406743	NPHS1	c.952G>T (p.Glu318Ter)
19	g.35849036C=	CA2333850699	NPHS1	c.952G= (p.Glu318=)
19	g.35849036C>G	CA405406744	NPHS1	c.952G>C (p.Glu318Gln)
19	g.35849036C>T	CA9390594	NPHS1	c.952G>A (p.Glu318Lys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849037G>A	CA9390595	NPHS1	c.951C>T (p.Cys317=)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35849037G>C	CA405406745	NPHS1	c.951C>G (p.Cys317Trp)
19	g.35849037G=	CA2333850700	NPHS1	c.951C= (p.Cys317=)
19	g.35849037G>T	CA405406746	NPHS1	c.951C>A (p.Cys317Ter)	ClinVar
19	g.35849038C>A	CA405406747	NPHS1	c.950G>T (p.Cys317Phe)
19	g.35849038C>G	CA405406748	NPHS1	c.950G>C (p.Cys317Ser)
19	g.35849038C>T	CA405406749	NPHS1	c.950G>A (p.Cys317Tyr)	gnomAD v4
19	g.35849039A>C	CA405406750	NPHS1	c.949T>G (p.Cys317Gly)
19	g.35849039A>G	CA405406751	NPHS1	c.949T>C (p.Cys317Arg)
19	g.35849039A>T	CA405406752	NPHS1	c.949T>A (p.Cys317Ser)
19	g.35849040G>A	CA507314404	NPHS1	c.948C>T (p.Ser316=)
19	g.35849040G>C	CA405406753	NPHS1	c.948C>G (p.Ser316Arg)
19	g.35849040G=	CA2333850701	NPHS1	c.948C= (p.Ser316=)
19	g.35849040G>T	CA307787650	NPHS1	c.948C>A (p.Ser316Arg)	dbSNP gnomAD v3 gnomAD v4
19	g.35849041C>A	CA405406756	NPHS1	c.947G>T (p.Ser316Ile)
19	g.35849041C=	CA2333850702	NPHS1	c.947G= (p.Ser316=)
19	g.35849041C>G	CA405406755	NPHS1	c.947G>C (p.Ser316Thr)
19	g.35849041C>T	CA405406754	NPHS1	c.947G>A (p.Ser316Asn)	dbSNP gnomAD v2 gnomAD v4
19	g.35849042T>A	CA405406757	NPHS1	c.946A>T (p.Ser316Cys)	dbSNP
19	g.35849042T>C	CA405406759	NPHS1	c.946A>G (p.Ser316Gly)
19	g.35849042T>G	CA405406758	NPHS1	c.946A>C (p.Ser316Arg)
19	g.35849042T=	CA2333850703	NPHS1	c.946A= (p.Ser316=)
19	g.35849043G>A	CA9390596	NPHS1	c.945C>T (p.Leu315=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35849043G>C	CA507314405	NPHS1	c.945C>G (p.Leu315=)	ClinVar COSMIC
19	g.35849043G=	CA2333850704	NPHS1	c.945C= (p.Leu315=)
19	g.35849043G>T	CA507314406	NPHS1	c.945C>A (p.Leu315=)	gnomAD v4
19	g.35849044A=	CA2333850705	NPHS1	c.944T= (p.Leu315=)
19	g.35849044A>C	CA405406762	NPHS1	c.944T>G (p.Leu315Arg)	dbSNP
19	g.35849044A>G	CA405406760	NPHS1	c.944T>C (p.Leu315Pro)
19	g.35849044A>T	CA405406761	NPHS1	c.944T>A (p.Leu315His)
19	g.35849045G>A	CA405406763	NPHS1	c.943C>T (p.Leu315Phe)
19	g.35849045G>C	CA405406764	NPHS1	c.943C>G (p.Leu315Val)
19	g.35849045G>T	CA405406765	NPHS1	c.943C>A (p.Leu315Ile)	gnomAD v4
19	g.35849046C>A	CA405406766	NPHS1	c.942G>T (p.Gln314His)	gnomAD v4
19	g.35849046C>G	CA405406767	NPHS1	c.942G>C (p.Gln314His)
19	g.35849046C>T	CA507314407	NPHS1	c.942G>A (p.Gln314=)
19	g.35849047T>A	CA405406768	NPHS1	c.941A>T (p.Gln314Leu)	gnomAD v4
19	g.35849047T>C	CA405406769	NPHS1	c.941A>G (p.Gln314Arg)
19	g.35849047T>G	CA405406770	NPHS1	c.941A>C (p.Gln314Pro)
19	g.35849048G>A	CA405406771	NPHS1	c.940C>T (p.Gln314Ter)	gnomAD v4
19	g.35849048G>C	CA405406772	NPHS1	c.940C>G (p.Gln314Glu)
19	g.35849048G=	CA2333850706	NPHS1	c.940C= (p.Gln314=)
19	g.35849048G>T	CA405406773	NPHS1	c.940C>A (p.Gln314Lys)	dbSNP gnomAD v3 gnomAD v4
19	g.35849049C>A	CA507314409	NPHS1	c.939G>T (p.Ala313=)	dbSNP gnomAD v2 gnomAD v4
19	g.35849049C=	CA2333850707	NPHS1	c.939G= (p.Ala313=)
19	g.35849049C>G	CA507314410	NPHS1	c.939G>C (p.Ala313=)
19	g.35849049C>T	CA9390597	NPHS1	c.939G>A (p.Ala313=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849050G>A	CA9390598	NPHS1	c.938C>T (p.Ala313Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849050G>C	CA405406774	NPHS1	c.938C>G (p.Ala313Gly)	dbSNP
19	g.35849050G=	CA2333850708	NPHS1	c.938C= (p.Ala313=)
19	g.35849050G>T	CA405406775	NPHS1	c.938C>A (p.Ala313Glu)	gnomAD v4
19	g.35849051C>A	CA405406776	NPHS1	c.937G>T (p.Ala313Ser)
19	g.35849051C>G	CA405406777	NPHS1	c.937G>C (p.Ala313Pro)
19	g.35849051C>T	CA405406778	NPHS1	c.937G>A (p.Ala313Thr)	gnomAD v4
19	g.35849052T>A	CA507314414	NPHS1	c.936A>T (p.Gly312=)
19	g.35849052T>C	CA507314413	NPHS1	c.936A>G (p.Gly312=)
19	g.35849052T>G	CA507314411	NPHS1	c.936A>C (p.Gly312=)
19	g.35849053C>A	CA405406779	NPHS1	c.935G>T (p.Gly312Val)
19	g.35849053C>G	CA405406780	NPHS1	c.935G>C (p.Gly312Ala)	gnomAD v4
19	g.35849053C>T	CA405406781	NPHS1	c.935G>A (p.Gly312Glu)
19	g.35849054C>A	CA405406782	NPHS1	c.934G>T (p.Gly312Ter)
19	g.35849054C>G	CA405406783	NPHS1	c.934G>C (p.Gly312Arg)
19	g.35849054C>T	CA405406784	NPHS1	c.934G>A (p.Gly312Arg)	gnomAD v4
19	g.35849055A>C	CA405406786	NPHS1	c.933T>G (p.His311Gln)
19	g.35849055A>G	CA507314415	NPHS1	c.933T>C (p.His311=)
19	g.35849055A>T	CA405406785	NPHS1	c.933T>A (p.His311Gln)	gnomAD v4
19	g.35849056del	CA507314417	NPHS1	c.932del (p.His311LeufsTer?)	COSMIC
19	g.35849056T>A	CA405406787	NPHS1	c.932A>T (p.His311Leu)
19	g.35849056T>C	CA307787669	NPHS1	c.932A>G (p.His311Arg)	ClinVar dbSNP
19	g.35849056T>G	CA307787672	NPHS1	c.932A>C (p.His311Pro)	dbSNP
19	g.35849056T=	CA2333850709	NPHS1	c.932A= (p.His311=)
19	g.35849057G>A	CA405406788	NPHS1	c.931C>T (p.His311Tyr)
19	g.35849057G>C	CA405406789	NPHS1	c.931C>G (p.His311Asp)
19	g.35849057G>T	CA405406790	NPHS1	c.931C>A (p.His311Asn)
19	g.35849058G>A	CA507314418	NPHS1	c.930C>T (p.Asp310=)
19	g.35849058G>C	CA405406791	NPHS1	c.930C>G (p.Asp310Glu)
19	g.35849058G>T	CA405406792	NPHS1	c.930C>A (p.Asp310Glu)	gnomAD v4
19	g.35849059T>A	CA405406793	NPHS1	c.929A>T (p.Asp310Val)
19	g.35849059T>C	CA405406794	NPHS1	c.929A>G (p.Asp310Gly)
19	g.35849059T>G	CA405406795	NPHS1	c.929A>C (p.Asp310Ala)
19	g.35849060C>A	CA405406796	NPHS1	c.928G>T (p.Asp310Tyr)	ClinVar
19	g.35849060C=	CA2333850710	NPHS1	c.928G= (p.Asp310=)
19	g.35849060C>G	CA405406797	NPHS1	c.928G>C (p.Asp310His)
19	g.35849060C>T	CA9390599	NPHS1	c.928G>A (p.Asp310Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849061T>A	CA405406798	NPHS1	c.927A>T (p.Glu309Asp)
19	g.35849061T>C	CA507314422	NPHS1	c.927A>G (p.Glu309=)
19	g.35849061T>G	CA405406799	NPHS1	c.927A>C (p.Glu309Asp)
19	g.35849062T>A	CA405406800	NPHS1	c.926A>T (p.Glu309Val)
19	g.35849062T>C	CA405406801	NPHS1	c.926A>G (p.Glu309Gly)
19	g.35849062T>G	CA405406802	NPHS1	c.926A>C (p.Glu309Ala)
19	g.35849063C>A	CA405406803	NPHS1	c.925G>T (p.Glu309Ter)
19	g.35849063C=	CA2333850711	NPHS1	c.925G= (p.Glu309=)
19	g.35849063C>G	CA405406804	NPHS1	c.925G>C (p.Glu309Gln)
19	g.35849063C>T	CA307787673	NPHS1	c.925G>A (p.Glu309Lys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849064T>A	CA507314424	NPHS1	c.924A>T (p.Pro308=)
19	g.35849064T>C	CA507314425	NPHS1	c.924A>G (p.Pro308=)
19	g.35849064T>G	CA507314426	NPHS1	c.924A>C (p.Pro308=)
19	g.35849065G>A	CA405406805	NPHS1	c.923C>T (p.Pro308Leu)	gnomAD v4
19	g.35849065G>C	CA405406806	NPHS1	c.923C>G (p.Pro308Arg)
19	g.35849065G>T	CA405406807	NPHS1	c.923C>A (p.Pro308Gln)	gnomAD v4
19	g.35849066G>A	CA405406808	NPHS1	c.922C>T (p.Pro308Ser)
19	g.35849066G>C	CA405406809	NPHS1	c.922C>G (p.Pro308Ala)
19	g.35849066G>T	CA405406810	NPHS1	c.922C>A (p.Pro308Thr)	gnomAD v4 COSMIC
19	g.35849067C>A	CA405406812	NPHS1	c.921G>T (p.Arg307Ser)
19	g.35849067C=	CA2333850712	NPHS1	c.921G= (p.Arg307=)
19	g.35849067C>G	CA405406811	NPHS1	c.921G>C (p.Arg307Ser)
19	g.35849067C>T	CA307787675	NPHS1	c.921G>A (p.Arg307=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.35849068C>A	CA405406813	NPHS1	c.920G>T (p.Arg307Met)
19	g.35849068C>G	CA405406814	NPHS1	c.920G>C (p.Arg307Thr)
19	g.35849068C>T	CA405406815	NPHS1	c.920G>A (p.Arg307Lys)
19	g.35849069_35849070del	CA2736059230	NPHS1	c.919_920del (p.Arg307AlafsTer?)	dbSNP
19	g.35849069T>A	CA405406816	NPHS1	c.919A>T (p.Arg307Trp)
19	g.35849069T>C	CA405406817	NPHS1	c.919A>G (p.Arg307Gly)
19	g.35849069T>G	CA507314429	NPHS1	c.919A>C (p.Arg307=)
19	g.35849070C>A	CA507314430	NPHS1	c.918G>T (p.Val306=)	gnomAD v4
19	g.35849070C>G	CA507314431	NPHS1	c.918G>C (p.Val306=)
19	g.35849070C>T	CA507314433	NPHS1	c.918G>A (p.Val306=)
19	g.35849071A>C	CA405406818	NPHS1	c.917T>G (p.Val306Gly)
19	g.35849071A>G	CA405406819	NPHS1	c.917T>C (p.Val306Ala)
19	g.35849071A>T	CA405406820	NPHS1	c.917T>A (p.Val306Glu)
19	g.35849072C>A	CA405406821	NPHS1	c.916G>T (p.Val306Leu)
19	g.35849072C=	CA2333850713	NPHS1	c.916G= (p.Val306=)
19	g.35849072C>G	CA405406822	NPHS1	c.916G>C (p.Val306Leu)	gnomAD v4
19	g.35849072C>T	CA10648557	NPHS1	c.916G>A (p.Val306Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849073G>A	CA9390600	NPHS1	c.915C>T (p.Thr305=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849073G>C	CA507314436	NPHS1	c.915C>G (p.Thr305=)
19	g.35849073G=	CA2333850714	NPHS1	c.915C= (p.Thr305=)
19	g.35849073G>T	CA507314435	NPHS1	c.915C>A (p.Thr305=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
19	g.35849074G>A	CA405406823	NPHS1	c.914C>T (p.Thr305Ile)	dbSNP gnomAD v2 COSMIC
19	g.35849074G>C	CA405406824	NPHS1	c.914C>G (p.Thr305Ser)
19	g.35849074G=	CA2333850715	NPHS1	c.914C= (p.Thr305=)
19	g.35849074G>T	CA405406825	NPHS1	c.914C>A (p.Thr305Asn)	gnomAD v4
19	g.35849075T>A	CA405406826	NPHS1	c.913A>T (p.Thr305Ser)
19	g.35849075T>C	CA405406828	NPHS1	c.913A>G (p.Thr305Ala)	gnomAD v4
19	g.35849075T>G	CA405406827	NPHS1	c.913A>C (p.Thr305Pro)
19	g.35849076C>A	CA405406829	NPHS1	c.912G>T (p.Met304Ile)
19	g.35849076C=	CA2333850716	NPHS1	c.912G= (p.Met304=)
19	g.35849076C>G	CA405406830	NPHS1	c.912G>C (p.Met304Ile)
19	g.35849076C>T	CA405406831	NPHS1	c.912G>A (p.Met304Ile)	dbSNP gnomAD v4
19	g.35849077A>C	CA405406832	NPHS1	c.911T>G (p.Met304Arg)
19	g.35849077A>G	CA405406833	NPHS1	c.911T>C (p.Met304Thr)	gnomAD v4
19	g.35849077A>T	CA405406834	NPHS1	c.911T>A (p.Met304Lys)
19	g.35849078T>A	CA405406835	NPHS1	c.910A>T (p.Met304Leu)
19	g.35849078T>C	CA405406836	NPHS1	c.910A>G (p.Met304Val)
19	g.35849078T>G	CA405406837	NPHS1	c.910A>C (p.Met304Leu)
19	g.35849079C>A	CA507314441	NPHS1	c.909G>T (p.Val303=)
19	g.35849079C>G	CA507314443	NPHS1	c.909G>C (p.Val303=)
19	g.35849079C>T	CA507314442	NPHS1	c.909G>A (p.Val303=)
19	g.35849082_35849089del	CA2584603888	NPHS1	c.902_909del (p.Val301AspfsTer?)	ClinVar gnomAD v4
19	g.35849080A>C	CA405406838	NPHS1	c.908T>G (p.Val303Gly)
19	g.35849080A>G	CA405406839	NPHS1	c.908T>C (p.Val303Ala)
19	g.35849080A>T	CA405406840	NPHS1	c.908T>A (p.Val303Glu)
19	g.35849081C>A	CA405406841	NPHS1	c.907G>T (p.Val303Leu)
19	g.35849081C=	CA2333850717	NPHS1	c.907G= (p.Val303=)
19	g.35849081C>G	CA405406842	NPHS1	c.907G>C (p.Val303Leu)
19	g.35849081C>T	CA9390601	NPHS1	c.907G>A (p.Val303Met)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35849082C>A	CA507314445	NPHS1	c.906G>T (p.Leu302=)
19	g.35849082C>G	CA507314446	NPHS1	c.906G>C (p.Leu302=)
19	g.35849082C>T	CA507314447	NPHS1	c.906G>A (p.Leu302=)	gnomAD v4
19	g.35849084_35849086dup	CA2584603889	NPHS1	c.904_906dup (p.Leu302_Val303insLeu)	gnomAD v4
19	g.35849083A=	CA2333850718	NPHS1	c.905T= (p.Leu302=)
19	g.35849083A>C	CA405406843	NPHS1	c.905T>G (p.Leu302Arg)
19	g.35849083A>G	CA405406844	NPHS1	c.905T>C (p.Leu302Pro)	dbSNP gnomAD v2 gnomAD v4
19	g.35849083A>T	CA405406845	NPHS1	c.905T>A (p.Leu302Gln)
19	g.35849084del	CA2695198194	NPHS1	c.904del (p.Leu302TrpfsTer2)	ClinVar
19	g.35849084G>A	CA507314448	NPHS1	c.904C>T (p.Leu302=)	gnomAD v4 COSMIC
19	g.35849084G>C	CA405406846	NPHS1	c.904C>G (p.Leu302Val)
19	g.35849084G>T	CA405406847	NPHS1	c.904C>A (p.Leu302Met)	gnomAD v4
19	g.35849085C>A	CA9390602	NPHS1	c.903G>T (p.Val301=)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35849085C=	CA2333850719	NPHS1	c.903G= (p.Val301=)
19	g.35849085C>G	CA507314450	NPHS1	c.903G>C (p.Val301=)
19	g.35849085C>T	CA507314451	NPHS1	c.903G>A (p.Val301=)	ClinVar dbSNP
19	g.35849086A>C	CA405406848	NPHS1	c.902T>G (p.Val301Gly)
19	g.35849086A>G	CA405406849	NPHS1	c.902T>C (p.Val301Ala)
19	g.35849086A>T	CA405406850	NPHS1	c.902T>A (p.Val301Glu)
19	g.35849087C>A	CA405406851	NPHS1	c.901G>T (p.Val301Leu)
19	g.35849087C=	CA2333850720	NPHS1	c.901G= (p.Val301=)
19	g.35849087C>G	CA405406852	NPHS1	c.901G>C (p.Val301Leu)
19	g.35849087C>T	CA405406853	NPHS1	c.901G>A (p.Val301Met)	dbSNP gnomAD v4
19	g.35849088A=	CA2333850721	NPHS1	c.900T= (p.Ser300=)
19	g.35849088A>C	CA405406855	NPHS1	c.900T>G (p.Ser300Arg)
19	g.35849088A>G	CA507314453	NPHS1	c.900T>C (p.Ser300=)	ClinVar dbSNP gnomAD v4
19	g.35849088A>T	CA405406854	NPHS1	c.900T>A (p.Ser300Arg)
19	g.35849089C>A	CA405406856	NPHS1	c.899G>T (p.Ser300Ile)
19	g.35849089C=	CA2333850722	NPHS1	c.899G= (p.Ser300=)
19	g.35849089C>G	CA405406857	NPHS1	c.899G>C (p.Ser300Thr)
19	g.35849089C>T	CA9390603	NPHS1	c.899G>A (p.Ser300Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849090T>A	CA405406858	NPHS1	c.898A>T (p.Ser300Cys)
19	g.35849090T>C	CA405406859	NPHS1	c.898A>G (p.Ser300Gly)
19	g.35849090T>G	CA405406860	NPHS1	c.898A>C (p.Ser300Arg)
19	g.35849091G>A	CA507314455	NPHS1	c.897C>T (p.Arg299=)	gnomAD v4
19	g.35849091G>C	CA507314457	NPHS1	c.897C>G (p.Arg299=)
19	g.35849091G>T	CA507314459	NPHS1	c.897C>A (p.Arg299=)
19	g.35849092C>A	CA9390605	NPHS1	c.896G>T (p.Arg299Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849092C=	CA2333850723	NPHS1	c.896G= (p.Arg299=)
19	g.35849092C>G	CA405406861	NPHS1	c.896G>C (p.Arg299Pro)	ClinVar dbSNP gnomAD v4
19	g.35849092C>T	CA9390604	NPHS1	c.896G>A (p.Arg299His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849093G>A	CA9390606	NPHS1	c.895C>T (p.Arg299Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849093G>C	CA405406862	NPHS1	c.895C>G (p.Arg299Gly)
19	g.35849093G=	CA2333850724	NPHS1	c.895C= (p.Arg299=)
19	g.35849093G>T	CA405406863	NPHS1	c.895C>A (p.Arg299Ser)	gnomAD v4
19	g.35849094G>A	CA507314460	NPHS1	c.894C>T (p.Ala298=)	ClinVar
19	g.35849094G>C	CA507314461	NPHS1	c.894C>G (p.Ala298=)
19	g.35849094G>T	CA507314462	NPHS1	c.894C>A (p.Ala298=)
19	g.35849095G>A	CA405406866	NPHS1	c.893C>T (p.Ala298Val)
19	g.35849095G>C	CA405406865	NPHS1	c.893C>G (p.Ala298Gly)
19	g.35849095G>T	CA405406864	NPHS1	c.893C>A (p.Ala298Asp)	gnomAD v4
19	g.35849096C>A	CA405406867	NPHS1	c.892G>T (p.Ala298Ser)
19	g.35849096C=	CA2333850725	NPHS1	c.892G= (p.Ala298=)
19	g.35849096C>G	CA405406869	NPHS1	c.892G>C (p.Ala298Pro)
19	g.35849096C>T	CA405406868	NPHS1	c.892G>A (p.Ala298Thr)	dbSNP gnomAD v2 gnomAD v4
19	g.35849097C>A	CA507314464	NPHS1	c.891G>T (p.Val297=)
19	g.35849097C>G	CA507314465	NPHS1	c.891G>C (p.Val297=)
19	g.35849097C>T	CA507314466	NPHS1	c.891G>A (p.Val297=)
19	g.35849098A>C	CA405406870	NPHS1	c.890T>G (p.Val297Gly)	gnomAD v4
19	g.35849098A>G	CA405406872	NPHS1	c.890T>C (p.Val297Ala)	gnomAD v4
19	g.35849098A>T	CA405406871	NPHS1	c.890T>A (p.Val297Glu)
19	g.35849099C>A	CA405406873	NPHS1	c.889G>T (p.Val297Leu)
19	g.35849099C>G	CA405406874	NPHS1	c.889G>C (p.Val297Leu)
19	g.35849099C>T	CA405406875	NPHS1	c.889G>A (p.Val297Met)
19	g.35849100C>A	CA507314468	NPHS1	c.888G>T (p.Ala296=)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.35849100C=	CA2333850726	NPHS1	c.888G= (p.Ala296=)
19	g.35849100C>G	CA507314469	NPHS1	c.888G>C (p.Ala296=)
19	g.35849100C>T	CA9390607	NPHS1	c.888G>A (p.Ala296=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849101G>A	CA9390608	NPHS1	c.887C>T (p.Ala296Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849101G>C	CA405406876	NPHS1	c.887C>G (p.Ala296Gly)
19	g.35849101G=	CA2333850727	NPHS1	c.887C= (p.Ala296=)
19	g.35849101G>T	CA405406877	NPHS1	c.887C>A (p.Ala296Glu)	gnomAD v4
19	g.35849102C>A	CA405406878	NPHS1	c.886G>T (p.Ala296Ser)
19	g.35849102C=	CA2333850728	NPHS1	c.886G= (p.Ala296=)
19	g.35849102C>G	CA405406879	NPHS1	c.886G>C (p.Ala296Pro)
19	g.35849102C>T	CA250277	NPHS1	c.886G>A (p.Ala296Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19	g.35849103C>A	CA405406880	NPHS1	c.885G>T (p.Gln295His)
19	g.35849103C>G	CA405406881	NPHS1	c.885G>C (p.Gln295His)
19	g.35849103C>T	CA507314473	NPHS1	c.885G>A (p.Gln295=)
19	g.35849104T>A	CA405406884	NPHS1	c.884A>T (p.Gln295Leu)
19	g.35849104T>C	CA405406882	NPHS1	c.884A>G (p.Gln295Arg)
19	g.35849104T>G	CA405406883	NPHS1	c.884A>C (p.Gln295Pro)
19	g.35849105G>A	CA405406885	NPHS1	c.883C>T (p.Gln295Ter)
19	g.35849105G>C	CA405406886	NPHS1	c.883C>G (p.Gln295Glu)
19	g.35849105G>T	CA405406887	NPHS1	c.883C>A (p.Gln295Lys)
19	g.35849106G>A	CA507314476	NPHS1	c.882C>T (p.Thr294=)	dbSNP
19	g.35849106G>C	CA507314477	NPHS1	c.882C>G (p.Thr294=)
19	g.35849106G=	CA2333850729	NPHS1	c.882C= (p.Thr294=)
19	g.35849106G>T	CA507314478	NPHS1	c.882C>A (p.Thr294=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.35849107G>A	CA9390609	NPHS1	c.881C>T (p.Thr294Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849107G>C	CA405406888	NPHS1	c.881C>G (p.Thr294Ser)
19	g.35849107G=	CA2333850730	NPHS1	c.881C= (p.Thr294=)
19	g.35849107G>T	CA405406889	NPHS1	c.881C>A (p.Thr294Asn)	gnomAD v4
19	g.35849108T>A	CA405406890	NPHS1	c.880A>T (p.Thr294Ser)
19	g.35849108T>C	CA405406891	NPHS1	c.880A>G (p.Thr294Ala)
19	g.35849108T>G	CA405406892	NPHS1	c.880A>C (p.Thr294Pro)
19	g.35849109G>A	CA507314482	NPHS1	c.879C>T (p.His293=)	dbSNP gnomAD v2 gnomAD v4
19	g.35849109G>C	CA405406893	NPHS1	c.879C>G (p.His293Gln)
19	g.35849109G=	CA2333850731	NPHS1	c.879C= (p.His293=)
19	g.35849109G>T	CA405406894	NPHS1	c.879C>A (p.His293Gln)
19	g.35849110T>A	CA405406896	NPHS1	c.878A>T (p.His293Leu)
19	g.35849110T>C	CA9390610	NPHS1	c.878A>G (p.His293Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849110T>G	CA405406895	NPHS1	c.878A>C (p.His293Pro)
19	g.35849110T=	CA2333850732	NPHS1	c.878A= (p.His293=)
19	g.35849111G>A	CA405406899	NPHS1	c.877C>T (p.His293Tyr)
19	g.35849111G>C	CA405406897	NPHS1	c.877C>G (p.His293Asp)
19	g.35849111G>T	CA405406898	NPHS1	c.877C>A (p.His293Asn)
19	g.35849111dup	CA2580096885	NPHS1	c.877dup (p.His293ProfsTer?)	ClinVar
19	g.35849112C>A	CA405406900	NPHS1	c.876G>T (p.Glu292Asp)
19	g.35849112C>G	CA405406901	NPHS1	c.876G>C (p.Glu292Asp)
19	g.35849112C>T	CA507314486	NPHS1	c.876G>A (p.Glu292=)	gnomAD v4 COSMIC
19	g.35849113T>A	CA405406902	NPHS1	c.875A>T (p.Glu292Val)
19	g.35849113T>C	CA405406903	NPHS1	c.875A>G (p.Glu292Gly)
19	g.35849113T>G	CA405406904	NPHS1	c.875A>C (p.Glu292Ala)
19	g.35849114C>A	CA405406905	NPHS1	c.874G>T (p.Glu292Ter)
19	g.35849114C>G	CA405406906	NPHS1	c.874G>C (p.Glu292Gln)
19	g.35849114C>T	CA405406907	NPHS1	c.874G>A (p.Glu292Lys)
19	g.35849115T>A	CA507314492	NPHS1	c.873A>T (p.Thr291=)	gnomAD v4
19	g.35849115T>C	CA507314491	NPHS1	c.873A>G (p.Thr291=)
19	g.35849115T>G	CA507314493	NPHS1	c.873A>C (p.Thr291=)

Number of alleles fetched