Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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=)
19	g.35849116G>A	CA405406908	NPHS1	c.872C>T (p.Thr291Ile)	dbSNP gnomAD v2
19	g.35849116G>C	CA405406909	NPHS1	c.872C>G (p.Thr291Arg)	gnomAD v4
19	g.35849116G=	CA2333850733	NPHS1	c.872C= (p.Thr291=)
19	g.35849116G>T	CA405406910	NPHS1	c.872C>A (p.Thr291Lys)
19	g.35849117T>A	CA405406913	NPHS1	c.871A>T (p.Thr291Ser)
19	g.35849117T>C	CA405406911	NPHS1	c.871A>G (p.Thr291Ala)
19	g.35849117T>G	CA405406912	NPHS1	c.871A>C (p.Thr291Pro)
19	g.35849118G>A	CA507314494	NPHS1	c.870C>T (p.Gly290=)
19	g.35849118G>C	CA507314495	NPHS1	c.870C>G (p.Gly290=)
19	g.35849118G>T	CA507314496	NPHS1	c.870C>A (p.Gly290=)
19	g.35849119C>A	CA405406914	NPHS1	c.869G>T (p.Gly290Val)
19	g.35849119C=	CA2333850734	NPHS1	c.869G= (p.Gly290=)
19	g.35849119C>G	CA405406915	NPHS1	c.869G>C (p.Gly290Ala)
19	g.35849119C>T	CA405406916	NPHS1	c.869G>A (p.Gly290Asp)	dbSNP gnomAD v2 gnomAD v4
19	g.35849122dup	CA2695228643	NPHS1	c.869dup (p.Thr291HisfsTer?)
19	g.35849122del	CA2573156262	NPHS1	c.869del (p.Gly290AlafsTer14)	ClinVar dbSNP
19	g.35849120C>A	CA405406917	NPHS1	c.868G>T (p.Gly290Cys)
19	g.35849120C>G	CA405406918	NPHS1	c.868G>C (p.Gly290Arg)
19	g.35849120C>T	CA405406919	NPHS1	c.868G>A (p.Gly290Ser)	gnomAD v4
19	g.35849121C>A	CA405406920	NPHS1	c.867G>T (p.Trp289Cys)
19	g.35849121C>G	CA405406921	NPHS1	c.867G>C (p.Trp289Cys)
19	g.35849121C>T	CA405406922	NPHS1	c.867G>A (p.Trp289Ter)
19	g.35849122C>A	CA405406923	NPHS1	c.866G>T (p.Trp289Leu)
19	g.35849122C=	CA2333850735	NPHS1	c.866G= (p.Trp289=)
19	g.35849122C>G	CA405406924	NPHS1	c.866G>C (p.Trp289Ser)
19	g.35849122C>T	CA9390611	NPHS1	c.866G>A (p.Trp289Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35849123A=	CA2333850736	NPHS1	c.865T= (p.Trp289=)
19	g.35849123A>C	CA405406926	NPHS1	c.865T>G (p.Trp289Gly)
19	g.35849123A>G	CA405406927	NPHS1	c.865T>C (p.Trp289Arg)	dbSNP gnomAD v3 gnomAD v4
19	g.35849123A>T	CA405406925	NPHS1	c.865T>A (p.Trp289Arg)
19	g.35849124C>A	CA507314498	NPHS1	c.864G>T (p.Ala288=)
19	g.35849124C=	CA2333850737	NPHS1	c.864G= (p.Ala288=)
19	g.35849124C>G	CA507314499	NPHS1	c.864G>C (p.Ala288=)	ClinVar dbSNP
19	g.35849124C>T	CA9390612	NPHS1	c.864G>A (p.Ala288=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849125G>A	CA9390613	NPHS1	c.863C>T (p.Ala288Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.35849125G>C	CA405406928	NPHS1	c.863C>G (p.Ala288Gly)
19	g.35849125G=	CA2333850738	NPHS1	c.863C= (p.Ala288=)
19	g.35849125G>T	CA405406929	NPHS1	c.863C>A (p.Ala288Glu)	dbSNP gnomAD v2 gnomAD v4
19	g.35849126C>A	CA405406930	NPHS1	c.862G>T (p.Ala288Ser)
19	g.35849126C>G	CA405406931	NPHS1	c.862G>C (p.Ala288Pro)
19	g.35849126C>T	CA405406932	NPHS1	c.862G>A (p.Ala288Thr)	gnomAD v4
19	g.35849127T>A	CA507314501	NPHS1	c.861A>T (p.Thr287=)
19	g.35849127T>C	CA507314502	NPHS1	c.861A>G (p.Thr287=)
19	g.35849127T>G	CA507314503	NPHS1	c.861A>C (p.Thr287=)
19	g.35849128G>A	CA405406933	NPHS1	c.860C>T (p.Thr287Ile)	dbSNP
19	g.35849128G>C	CA405406934	NPHS1	c.860C>G (p.Thr287Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849128G=	CA2333850739	NPHS1	c.860C= (p.Thr287=)
19	g.35849128G>T	CA405406935	NPHS1	c.860C>A (p.Thr287Lys)
19	g.35849129T>A	CA405406936	NPHS1	c.859A>T (p.Thr287Ser)
19	g.35849129T>C	CA405406937	NPHS1	c.859A>G (p.Thr287Ala)
19	g.35849129T>G	CA405406938	NPHS1	c.859A>C (p.Thr287Pro)
19	g.35849130G>A	CA507314507	NPHS1	c.858C>T (p.Ser286=)	gnomAD v4
19	g.35849130G>C	CA507314508	NPHS1	c.858C>G (p.Ser286=)
19	g.35849130G>T	CA507314509	NPHS1	c.858C>A (p.Ser286=)
19	g.35849131G>A	CA405406941	NPHS1	c.857C>T (p.Ser286Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849131G>C	CA405406939	NPHS1	c.857C>G (p.Ser286Cys)
19	g.35849131G=	CA2333850740	NPHS1	c.857C= (p.Ser286=)
19	g.35849131G>T	CA405406940	NPHS1	c.857C>A (p.Ser286Tyr)
19	g.35849132A=	CA2333850741	NPHS1	c.856T= (p.Ser286=)
19	g.35849132A>C	CA405406942	NPHS1	c.856T>G (p.Ser286Ala)
19	g.35849132A>G	CA405406943	NPHS1	c.856T>C (p.Ser286Pro)	dbSNP gnomAD v3 gnomAD v4
19	g.35849132A>T	CA405406944	NPHS1	c.856T>A (p.Ser286Thr)
19	g.35849133C>A	CA507314514	NPHS1	c.855G>T (p.Val285=)
19	g.35849133C=	CA2333850742	NPHS1	c.855G= (p.Val285=)
19	g.35849133C>G	CA507314515	NPHS1	c.855G>C (p.Val285=)
19	g.35849133C>T	CA9390614	NPHS1	c.855G>A (p.Val285=)	dbSNP ExAC gnomAD v2 COSMIC
19	g.35849134A>C	CA405406946	NPHS1	c.854T>G (p.Val285Gly)
19	g.35849134A>G	CA405406947	NPHS1	c.854T>C (p.Val285Ala)
19	g.35849134A>T	CA405406948	NPHS1	c.854T>A (p.Val285Glu)
19	g.35849135C>A	CA405406949	NPHS1	c.853G>T (p.Val285Leu)
19	g.35849135C>G	CA405406950	NPHS1	c.853G>C (p.Val285Leu)
19	g.35849135C>T	CA405406951	NPHS1	c.853G>A (p.Val285Met)
19	g.35849136C>A	CA507314519	NPHS1	c.852G>T (p.Pro284=)
19	g.35849136C=	CA2333850743	NPHS1	c.852G= (p.Pro284=)
19	g.35849136C>G	CA507314520	NPHS1	c.852G>C (p.Pro284=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849136C>T	CA9390615	NPHS1	c.852G>A (p.Pro284=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.35849136_35849137del	CA913015891	NPHS1	c.851_852del (p.Pro284ArgfsTer?)
19	g.35849136_35849137delinsCG	CA2333850744	NPHS1	c.851_852delinsCG (p.Pro284=)
19	g.35849137G>A	CA9390616	NPHS1	c.851C>T (p.Pro284Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849137G>C	CA405406953	NPHS1	c.851C>G (p.Pro284Arg)
19	g.35849137G=	CA2333850745	NPHS1	c.851C= (p.Pro284=)
19	g.35849137G>T	CA405406952	NPHS1	c.851C>A (p.Pro284Gln)	gnomAD v4
19	g.35849138del	CA658823766	NPHS1	c.851del (p.Pro284ArgfsTer20)	ClinVar dbSNP
19	g.35849138G>A	CA405406954	NPHS1	c.850C>T (p.Pro284Ser)	gnomAD v4 COSMIC
19	g.35849138G>C	CA405406955	NPHS1	c.850C>G (p.Pro284Ala)	gnomAD v4
19	g.35849138G>T	CA405406956	NPHS1	c.850C>A (p.Pro284Thr)	gnomAD v4
19	g.35849139C>A	CA405406957	NPHS1	c.849G>T (p.Gln283His)
19	g.35849139C>G	CA405406958	NPHS1	c.849G>C (p.Gln283His)
19	g.35849139C>T	CA507314521	NPHS1	c.849G>A (p.Gln283=)
19	g.35849140T>A	CA405406961	NPHS1	c.848A>T (p.Gln283Leu)
19	g.35849140T>C	CA405406960	NPHS1	c.848A>G (p.Gln283Arg)
19	g.35849140T>G	CA405406959	NPHS1	c.848A>C (p.Gln283Pro)
19	g.35849141G>A	CA405406962	NPHS1	c.847C>T (p.Gln283Ter)	ClinVar gnomAD v4
19	g.35849141G>C	CA405406963	NPHS1	c.847C>G (p.Gln283Glu)
19	g.35849141G>T	CA405406964	NPHS1	c.847C>A (p.Gln283Lys)
19	g.35849142G>A	CA507314525	NPHS1	c.846C>T (p.Gly282=)	dbSNP gnomAD v2 gnomAD v4
19	g.35849142G>C	CA507314528	NPHS1	c.846C>G (p.Gly282=)	dbSNP
19	g.35849142G=	CA2333850746	NPHS1	c.846C= (p.Gly282=)
19	g.35849142G>T	CA507314526	NPHS1	c.846C>A (p.Gly282=)	gnomAD v4
19	g.35849143C>A	CA405406965	NPHS1	c.845G>T (p.Gly282Val)
19	g.35849143C>G	CA405406966	NPHS1	c.845G>C (p.Gly282Ala)
19	g.35849143C>T	CA405406967	NPHS1	c.845G>A (p.Gly282Asp)	gnomAD v4
19	g.35849144C>A	CA405406968	NPHS1	c.844G>T (p.Gly282Cys)	gnomAD v4
19	g.35849144C>G	CA405406970	NPHS1	c.844G>C (p.Gly282Arg)
19	g.35849144C>T	CA405406969	NPHS1	c.844G>A (p.Gly282Ser)
19	g.35849145A>C	CA405406971	NPHS1	c.843T>G (p.Asn281Lys)
19	g.35849145A>G	CA507314530	NPHS1	c.843T>C (p.Asn281=)	ClinVar
19	g.35849145A>T	CA405406972	NPHS1	c.843T>A (p.Asn281Lys)
19	g.35849146T>A	CA405406973	NPHS1	c.842A>T (p.Asn281Ile)
19	g.35849146T>C	CA9390617	NPHS1	c.842A>G (p.Asn281Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35849146T>G	CA405406974	NPHS1	c.842A>C (p.Asn281Thr)
19	g.35849146T=	CA2333850747	NPHS1	c.842A= (p.Asn281=)
19	g.35849147T>A	CA405406975	NPHS1	c.841A>T (p.Asn281Tyr)
19	g.35849147T>C	CA405406976	NPHS1	c.841A>G (p.Asn281Asp)
19	g.35849147T>G	CA405406977	NPHS1	c.841A>C (p.Asn281His)
19	g.35849148C>A	CA405406978	NPHS1	c.841-1G>T (n.841-1G>T)
19	g.35849148C>G	CA405406979	NPHS1	c.841-1G>C (n.841-1G>C)
19	g.35849148C>T	CA405406980	NPHS1	c.841-1G>A (n.841-1G>A)
19	g.35849149T>A	CA405406983	NPHS1	c.841-2A>T (n.841-2A>T)
19	g.35849149T>C	CA405406982	NPHS1	c.841-2A>G (n.841-2A>G)	gnomAD v4
19	g.35849149T>G	CA405406981	NPHS1	c.841-2A>C (n.841-2A>C)	ClinVar

Number of alleles fetched