Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
19	g.35848980G>A	CA507085305	NPHS1	c.1008C>T (p.Val336=) n.15C>T	COSMIC
19	g.35848980G>C	CA507085306	NPHS1	c.1008C>G (p.Val336=) n.15C>G
19	g.35848980G>T	CA507085307	NPHS1	c.1008C>A (p.Val336=) n.15C>A
19	g.35848981A=	CA2333850677	NPHS1	c.1007T= (p.Val336=) n.14T=
19	g.35848981A>C	CA405406623	NPHS1	c.1007T>G (p.Val336Gly) n.14T>G
19	g.35848981A>G	CA9390586	NPHS1	c.1007T>C (p.Val336Ala) n.14T>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35848981A>T	CA405406622	NPHS1	c.1007T>A (p.Val336Asp) n.14T>A
19	g.35848981_35848982delinsAC	CA2333850678	NPHS1	c.1006_1007delinsGT (p.Val336=) n.13_14delinsGT
19	g.35848982C>A	CA405406624	NPHS1	c.1006G>T (p.Val336Phe) n.13G>T	gnomAD v4 COSMIC
19	g.35848982C>G	CA405406625	NPHS1	c.1006G>C (p.Val336Leu) n.13G>C
19	g.35848982C>T	CA405406626	NPHS1	c.1006G>A (p.Val336Ile) n.13G>A
19	g.35848983del	CA633061405	NPHS1	c.1006del (p.Val336SerfsTer22) n.13del	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.35848983C>A	CA405406627	NPHS1	c.1005G>T (p.Gln335His) n.12G>T
19	g.35848983C>G	CA405406628	NPHS1	c.1005G>C (p.Gln335His) n.12G>C
19	g.35848983C>T	CA507085308	NPHS1	c.1005G>A (p.Gln335=) n.12G>A
19	g.35848984T>A	CA405406629	NPHS1	c.1004A>T (p.Gln335Leu) n.11A>T
19	g.35848984T>C	CA405406630	NPHS1	c.1004A>G (p.Gln335Arg) n.11A>G
19	g.35848984T>G	CA405406631	NPHS1	c.1004A>C (p.Gln335Pro) n.11A>C
19	g.35848985G>A	CA405406632	NPHS1	c.1003C>T (p.Gln335Ter) n.10C>T
19	g.35848985G>C	CA405406633	NPHS1	c.1003C>G (p.Gln335Glu) n.10C>G
19	g.35848985G>T	CA405406634	NPHS1	c.1003C>A (p.Gln335Lys) n.10C>A	gnomAD v4
19	g.35848986C>A	CA507085309	NPHS1	c.1002G>T (p.Leu334=) n.9G>T	gnomAD v4
19	g.35848986C=	CA2333850679	NPHS1	c.1002G= (p.Leu334=) n.9G=
19	g.35848986C>G	CA507085310	NPHS1	c.1002G>C (p.Leu334=) n.9G>C
19	g.35848986C>T	CA507085311	NPHS1	c.1002G>A (p.Leu334=) n.9G>A	dbSNP gnomAD v4
19	g.35848987A=	CA2333850680	NPHS1	c.1001T= (p.Leu334=) n.8T=
19	g.35848987A>C	CA405406635	NPHS1	c.1001T>G (p.Leu334Arg) n.8T>G
19	g.35848987A>G	CA405406637	NPHS1	c.1001T>C (p.Leu334Pro) n.8T>C	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.35848987A>T	CA405406636	NPHS1	c.1001T>A (p.Leu334Gln) n.8T>A
19	g.35848988del	CA2584603885	NPHS1	c.1000del (p.Leu334CysfsTer24) n.7del	gnomAD v4
19	g.35848988G>A	CA507085312	NPHS1	c.1000C>T (p.Leu334=) n.7C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.35848988G>C	CA405406638	NPHS1	c.1000C>G (p.Leu334Val) n.7C>G
19	g.35848988G=	CA2333850681	NPHS1	c.1000C= (p.Leu334=) n.7C=
19	g.35848988G>T	CA405406639	NPHS1	c.1000C>A (p.Leu334Met) n.7C>A
19	g.35848991_35848992dup	CA633061406	NPHS1	c.999_1000dup (p.Leu334HisfsTer25) n.6_7dup	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.35848989T>A	CA507085313	NPHS1	c.999A>T (p.Thr333=) n.6A>T
19	g.35848989T>C	CA507085315	NPHS1	c.999A>G (p.Thr333=) n.6A>G	ClinVar dbSNP
19	g.35848989T>G	CA507085314	NPHS1	c.999A>C (p.Thr333=) n.6A>C
19	g.35848989T=	CA2333850682	NPHS1	c.999A= (p.Thr333=) n.6A=
19	g.35848990G>A	CA405406640	NPHS1	c.998C>T (p.Thr333Ile) n.5C>T	gnomAD v4
19	g.35848990G>C	CA405406642	NPHS1	c.998C>G (p.Thr333Arg) n.5C>G
19	g.35848990G>T	CA405406641	NPHS1	c.998C>A (p.Thr333Lys) n.5C>A	gnomAD v4
19	g.35848991T>A	CA405406643	NPHS1	c.997A>T (p.Thr333Ser) n.4A>T
19	g.35848991T>C	CA405406645	NPHS1	c.997A>G (p.Thr333Ala) n.4A>G
19	g.35848991T>G	CA405406644	NPHS1	c.997A>C (p.Thr333Pro) n.4A>C
19	g.35848992G>A	CA507085316	NPHS1	c.996C>T (p.Ile332=) n.3C>T	COSMIC
19	g.35848992G>C	CA405406646	NPHS1	c.996C>G (p.Ile332Met) n.3C>G
19	g.35848992G>T	CA507085317	NPHS1	c.996C>A (p.Ile332=) n.3C>A
19	g.35848993A>C	CA405406649	NPHS1	c.995T>G (p.Ile332Ser) n.2T>G
19	g.35848993A>G	CA405406647	NPHS1	c.995T>C (p.Ile332Thr) n.2T>C
19	g.35848993A>T	CA405406648	NPHS1	c.995T>A (p.Ile332Asn) n.2T>A
19	g.35848994T>A	CA405406650	NPHS1	c.994A>T (p.Ile332Phe) n.1A>T
19	g.35848994T>C	CA405406651	NPHS1	c.994A>G (p.Ile332Val) n.1A>G
19	g.35848994T>G	CA405406652	NPHS1	c.994A>C (p.Ile332Leu) n.1A>C
19	g.35848994_35848995del	CA2814252557	NPHS1	c.993_994del (p.Ile332HisfsTer9)
19	g.35848995G>A	CA507085318	NPHS1	c.993C>T (p.Gly331=)
19	g.35848995G>C	CA507085319	NPHS1	c.993C>G (p.Gly331=)
19	g.35848995G>T	CA507085320	NPHS1	c.993C>A (p.Gly331=)	gnomAD v4
19	g.35848996C>A	CA405406653	NPHS1	c.992G>T (p.Gly331Val)
19	g.35848996C=	CA2333850683	NPHS1	c.992G= (p.Gly331=)
19	g.35848996C>G	CA405406654	NPHS1	c.992G>C (p.Gly331Ala)
19	g.35848996C>T	CA405406655	NPHS1	c.992G>A (p.Gly331Asp)	dbSNP gnomAD v4
19	g.35848997C>A	CA405406656	NPHS1	c.991G>T (p.Gly331Cys)
19	g.35848997C=	CA2333850684	NPHS1	c.991G= (p.Gly331=)
19	g.35848997C>G	CA405406657	NPHS1	c.991G>C (p.Gly331Arg)
19	g.35848997C>T	CA9390587	NPHS1	c.991G>A (p.Gly331Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35848997_35848998insCCAC	CA2814252559	NPHS1	c.991_992insTGGG (p.Gly331ValfsTer12)
19	g.35848998del	CA2584603886	NPHS1	c.990del (p.His330GlnfsTer28)	gnomAD v4
19	g.35848998G>A	CA9390588	NPHS1	c.990C>T (p.His330=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35848998G>C	CA405406659	NPHS1	c.990C>G (p.His330Gln)
19	g.35848998G=	CA2333850685	NPHS1	c.990C= (p.His330=)
19	g.35848998G>T	CA405406658	NPHS1	c.990C>A (p.His330Gln)	gnomAD v4
19	g.35848999T>A	CA405406660	NPHS1	c.989A>T (p.His330Leu)
19	g.35848999T>C	CA405406661	NPHS1	c.989A>G (p.His330Arg)
19	g.35848999T>G	CA405406662	NPHS1	c.989A>C (p.His330Pro)
19	g.35849000G>A	CA405406663	NPHS1	c.988C>T (p.His330Tyr)	dbSNP gnomAD v2 gnomAD v4
19	g.35849000G>C	CA405406664	NPHS1	c.988C>G (p.His330Asp)
19	g.35849000G=	CA2333850686	NPHS1	c.988C= (p.His330=)
19	g.35849000G>T	CA405406665	NPHS1	c.988C>A (p.His330Asn)	gnomAD v4
19	g.35849000_35849001del	CA2814252561	NPHS1	c.987_988del (p.His330ArgfsTer11)
19	g.35849001C>A	CA405406666	NPHS1	c.987G>T (p.Glu329Asp)
19	g.35849001C>G	CA405406667	NPHS1	c.987G>C (p.Glu329Asp)
19	g.35849001C>T	CA507085321	NPHS1	c.987G>A (p.Glu329=)	gnomAD v4
19	g.35849002T>A	CA405406668	NPHS1	c.986A>T (p.Glu329Val)
19	g.35849002T>C	CA405406670	NPHS1	c.986A>G (p.Glu329Gly)	gnomAD v4
19	g.35849002T>G	CA405406671	NPHS1	c.986A>C (p.Glu329Ala)
19	g.35849003C>A	CA405406674	NPHS1	c.985G>T (p.Glu329Ter)
19	g.35849003C>G	CA405406673	NPHS1	c.985G>C (p.Glu329Gln)
19	g.35849003C>T	CA405406672	NPHS1	c.985G>A (p.Glu329Lys)	COSMIC
19	g.35849004C>A	CA405406675	NPHS1	c.984G>T (p.Gln328His)
19	g.35849004C>G	CA405406676	NPHS1	c.984G>C (p.Gln328His)
19	g.35849004C>T	CA507085322	NPHS1	c.984G>A (p.Gln328=)	ClinVar dbSNP
19	g.35849005T>A	CA405406677	NPHS1	c.983A>T (p.Gln328Leu)	dbSNP
19	g.35849005T>C	CA405406678	NPHS1	c.983A>G (p.Gln328Arg)	dbSNP gnomAD v2 gnomAD v4
19	g.35849005T>G	CA405406679	NPHS1	c.983A>C (p.Gln328Pro)
19	g.35849005T=	CA2333850687	NPHS1	c.983A= (p.Gln328=)
19	g.35849006G>A	CA405406680	NPHS1	c.982C>T (p.Gln328Ter)	gnomAD v4
19	g.35849006G>C	CA405406681	NPHS1	c.982C>G (p.Gln328Glu)
19	g.35849006G>T	CA405406682	NPHS1	c.982C>A (p.Gln328Lys)	gnomAD v4
19	g.35849007G>A	CA507085323	NPHS1	c.981C>T (p.Thr327=)	gnomAD v4
19	g.35849007G>C	CA507085324	NPHS1	c.981C>G (p.Thr327=)	dbSNP
19	g.35849007G=	CA2333850688	NPHS1	c.981C= (p.Thr327=)
19	g.35849007G>T	CA507085325	NPHS1	c.981C>A (p.Thr327=)
19	g.35849008G>A	CA405406683	NPHS1	c.980C>T (p.Thr327Ile)
19	g.35849008G>C	CA405406684	NPHS1	c.980C>G (p.Thr327Ser)
19	g.35849008G>T	CA405406685	NPHS1	c.980C>A (p.Thr327Asn)	gnomAD v4
19	g.35849009T>A	CA405406688	NPHS1	c.979A>T (p.Thr327Ser)
19	g.35849009T>C	CA405406687	NPHS1	c.979A>G (p.Thr327Ala)
19	g.35849009T>G	CA405406686	NPHS1	c.979A>C (p.Thr327Pro)
19	g.35849010C>A	CA507314374	NPHS1	c.978G>T (p.Gly326=)
19	g.35849010C=	CA2333850689	NPHS1	c.978G= (p.Gly326=)
19	g.35849010C>G	CA507314375	NPHS1	c.978G>C (p.Gly326=)
19	g.35849010C>T	CA307787637	NPHS1	c.978G>A (p.Gly326=)	dbSNP COSMIC
19	g.35849011_35849012del	CA2695228642	NPHS1	c.977_978del (p.Gly326AspfsTer15)
19	g.35849011C>A	CA405406689	NPHS1	c.977G>T (p.Gly326Val)
19	g.35849011C>G	CA405406690	NPHS1	c.977G>C (p.Gly326Ala)
19	g.35849011C>T	CA405406691	NPHS1	c.977G>A (p.Gly326Glu)	gnomAD v4
19	g.35849012C>A	CA405406692	NPHS1	c.976G>T (p.Gly326Trp)
19	g.35849012C>G	CA405406693	NPHS1	c.976G>C (p.Gly326Arg)
19	g.35849012C>T	CA405406694	NPHS1	c.976G>A (p.Gly326Arg)
19	g.35849013T>A	CA507314376	NPHS1	c.975A>T (p.Ala325=)
19	g.35849013T>C	CA507314377	NPHS1	c.975A>G (p.Ala325=)
19	g.35849013T>G	CA507314378	NPHS1	c.975A>C (p.Ala325=)	gnomAD v4
19	g.35849014G>A	CA9390589	NPHS1	c.974C>T (p.Ala325Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849014G>C	CA405406695	NPHS1	c.974C>G (p.Ala325Gly)
19	g.35849014G=	CA2333850690	NPHS1	c.974C= (p.Ala325=)
19	g.35849014G>T	CA405406696	NPHS1	c.974C>A (p.Ala325Glu)
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)

Number of alleles fetched