Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
19	g.35849294A>C	CA405407103	NPHS1	c.782T>G (p.Leu261Trp)	gnomAD v4
19	g.35849294A>G	CA405407104	NPHS1	c.782T>C (p.Leu261Ser)
19	g.35849294A>T	CA405407105	NPHS1	c.782T>A (p.Leu261Ter)
19	g.35849295A>C	CA405407106	NPHS1	c.781T>G (p.Leu261Val)
19	g.35849295A>G	CA507314604	NPHS1	c.781T>C (p.Leu261=)
19	g.35849295A>T	CA405407107	NPHS1	c.781T>A (p.Leu261Met)
19	g.35849296G>A	CA9390659	NPHS1	c.780C>T (p.Ser260=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35849296G>C	CA405407109	NPHS1	c.780C>G (p.Ser260Arg)
19	g.35849296G=	CA2333850829	NPHS1	c.780C= (p.Ser260=)
19	g.35849296G>T	CA405407108	NPHS1	c.780C>A (p.Ser260Arg)
19	g.35849297C>A	CA405407110	NPHS1	c.779G>T (p.Ser260Ile)
19	g.35849297C>G	CA405407111	NPHS1	c.779G>C (p.Ser260Thr)
19	g.35849297C>T	CA405407112	NPHS1	c.779G>A (p.Ser260Asn)	gnomAD v4
19	g.35849298T>A	CA405407113	NPHS1	c.778A>T (p.Ser260Cys)
19	g.35849298T>C	CA405407114	NPHS1	c.778A>G (p.Ser260Gly)	dbSNP gnomAD v4
19	g.35849298T>G	CA405407115	NPHS1	c.778A>C (p.Ser260Arg)
19	g.35849298T=	CA2333850830	NPHS1	c.778A= (p.Ser260=)
19	g.35849299C>A	CA405407117	NPHS1	c.777G>T (p.Gln259His)
19	g.35849299C>G	CA405407116	NPHS1	c.777G>C (p.Gln259His)
19	g.35849299C>T	CA507314611	NPHS1	c.777G>A (p.Gln259=)	ClinVar
19	g.35849300T>A	CA405407118	NPHS1	c.776A>T (p.Gln259Leu)
19	g.35849300T>C	CA9390660	NPHS1	c.776A>G (p.Gln259Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.35849300T>G	CA405407119	NPHS1	c.776A>C (p.Gln259Pro)
19	g.35849300T=	CA2333850831	NPHS1	c.776A= (p.Gln259=)
19	g.35849301G>A	CA9390661	NPHS1	c.775C>T (p.Gln259Ter)	dbSNP ExAC
19	g.35849301G>C	CA405407120	NPHS1	c.775C>G (p.Gln259Glu)	gnomAD v4
19	g.35849301G=	CA2333850832	NPHS1	c.775C= (p.Gln259=)
19	g.35849301G>T	CA405407121	NPHS1	c.775C>A (p.Gln259Lys)
19	g.35849302T>A	CA507314614	NPHS1	c.774A>T (p.Gly258=)
19	g.35849302T>C	CA507314617	NPHS1	c.774A>G (p.Gly258=)
19	g.35849302T>G	CA507314615	NPHS1	c.774A>C (p.Gly258=)
19	g.35849303C>A	CA405407122	NPHS1	c.773G>T (p.Gly258Val)
19	g.35849303C=	CA2333850833	NPHS1	c.773G= (p.Gly258=)
19	g.35849303C>G	CA405407124	NPHS1	c.773G>C (p.Gly258Ala)	dbSNP gnomAD v4
19	g.35849303C>T	CA405407123	NPHS1	c.773G>A (p.Gly258Glu)
19	g.35849304C>A	CA405407125	NPHS1	c.772G>T (p.Gly258Ter)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.35849304C=	CA2333850834	NPHS1	c.772G= (p.Gly258=)
19	g.35849304C>G	CA405407126	NPHS1	c.772G>C (p.Gly258Arg)
19	g.35849304C>T	CA405407127	NPHS1	c.772G>A (p.Gly258Arg)	COSMIC
19	g.35849305T>A	CA507314623	NPHS1	c.771A>T (p.Ala257=)
19	g.35849305T>C	CA507314624	NPHS1	c.771A>G (p.Ala257=)	gnomAD v4
19	g.35849305T>G	CA507314625	NPHS1	c.771A>C (p.Ala257=)
19	g.35849306G>A	CA405407128	NPHS1	c.770C>T (p.Ala257Val)	dbSNP gnomAD v2 gnomAD v4
19	g.35849306G>C	CA405407129	NPHS1	c.770C>G (p.Ala257Gly)
19	g.35849306G=	CA2333850835	NPHS1	c.770C= (p.Ala257=)
19	g.35849306G>T	CA405407130	NPHS1	c.770C>A (p.Ala257Glu)	gnomAD v4
19	g.35849307C>A	CA405407131	NPHS1	c.769G>T (p.Ala257Ser)	gnomAD v4
19	g.35849307C=	CA2333850836	NPHS1	c.769G= (p.Ala257=)
19	g.35849307C>G	CA405407132	NPHS1	c.769G>C (p.Ala257Pro)
19	g.35849307C>T	CA405407133	NPHS1	c.769G>A (p.Ala257Thr)	dbSNP COSMIC
19	g.35849308C>A	CA507314631	NPHS1	c.768G>T (p.Arg256=)
19	g.35849308C=	CA2333850837	NPHS1	c.768G= (p.Arg256=)
19	g.35849308C>G	CA507314633	NPHS1	c.768G>C (p.Arg256=)
19	g.35849308C>T	CA9390662	NPHS1	c.768G>A (p.Arg256=)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35849309C>A	CA405407134	NPHS1	c.767G>T (p.Arg256Leu)	dbSNP
19	g.35849309C=	CA2333850838	NPHS1	c.767G= (p.Arg256=)
19	g.35849309C>G	CA405407135	NPHS1	c.767G>C (p.Arg256Pro)
19	g.35849309C>T	CA9390663	NPHS1	c.767G>A (p.Arg256Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849310G>A	CA250273	NPHS1	c.766C>T (p.Arg256Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849310G>C	CA9390664	NPHS1	c.766C>G (p.Arg256Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849310G=	CA2333850839	NPHS1	c.766C= (p.Arg256=)
19	g.35849310G>T	CA507314635	NPHS1	c.766C>A (p.Arg256=)	gnomAD v4
19	g.35849311C>A	CA507314637	NPHS1	c.765G>T (p.Val255=)
19	g.35849311C>G	CA507314639	NPHS1	c.765G>C (p.Val255=)
19	g.35849311C>T	CA507314640	NPHS1	c.765G>A (p.Val255=)
19	g.35849312A>C	CA405407136	NPHS1	c.764T>G (p.Val255Gly)
19	g.35849312A>G	CA405407137	NPHS1	c.764T>C (p.Val255Ala)
19	g.35849312A>T	CA405407138	NPHS1	c.764T>A (p.Val255Glu)
19	g.35849313C>A	CA9390665	NPHS1	c.763G>T (p.Val255Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849313C=	CA2333850840	NPHS1	c.763G= (p.Val255=)
19	g.35849313C>G	CA405407139	NPHS1	c.763G>C (p.Val255Leu)	gnomAD v4
19	g.35849313C>T	CA9390666	NPHS1	c.763G>A (p.Val255Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849314G>A	CA9390668	NPHS1	c.762C>T (p.His254=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19	g.35849314G>C	CA405407140	NPHS1	c.762C>G (p.His254Gln)	gnomAD v4
19	g.35849314G=	CA2333850841	NPHS1	c.762C= (p.His254=)
19	g.35849314G>T	CA9390667	NPHS1	c.762C>A (p.His254Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849315T>A	CA405407141	NPHS1	c.761A>T (p.His254Leu)
19	g.35849315T>C	CA405407142	NPHS1	c.761A>G (p.His254Arg)
19	g.35849315T>G	CA405407143	NPHS1	c.761A>C (p.His254Pro)
19	g.35849316G>A	CA9390669	NPHS1	c.760C>T (p.His254Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849316G>C	CA405407144	NPHS1	c.760C>G (p.His254Asp)	dbSNP gnomAD v2
19	g.35849316G=	CA2333850842	NPHS1	c.760C= (p.His254=)
19	g.35849316G>T	CA405407145	NPHS1	c.760C>A (p.His254Asn)
19	g.35849317C>A	CA507314655	NPHS1	c.759G>T (p.Gly253=)
19	g.35849317C=	CA2333850843	NPHS1	c.759G= (p.Gly253=)
19	g.35849317C>G	CA507314653	NPHS1	c.759G>C (p.Gly253=)
19	g.35849317C>T	CA9390670	NPHS1	c.759G>A (p.Gly253=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35849318C>A	CA405407146	NPHS1	c.758G>T (p.Gly253Val)
19	g.35849318C>G	CA405407147	NPHS1	c.758G>C (p.Gly253Ala)
19	g.35849318C>T	CA405407148	NPHS1	c.758G>A (p.Gly253Glu)	COSMIC
19	g.35849319C>A	CA405407149	NPHS1	c.757G>T (p.Gly253Trp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849319C=	CA2333850844	NPHS1	c.757G= (p.Gly253=)
19	g.35849319C>G	CA405407150	NPHS1	c.757G>C (p.Gly253Arg)
19	g.35849319C>T	CA405407151	NPHS1	c.757G>A (p.Gly253Arg)
19	g.35849320C>A	CA405407152	NPHS1	c.756G>T (p.Glu252Asp)
19	g.35849320C>G	CA405407153	NPHS1	c.756G>C (p.Glu252Asp)
19	g.35849320C>T	CA507314660	NPHS1	c.756G>A (p.Glu252=)	ClinVar dbSNP gnomAD v4
19	g.35849321T>A	CA405407154	NPHS1	c.755A>T (p.Glu252Val)
19	g.35849321T>C	CA405407155	NPHS1	c.755A>G (p.Glu252Gly)
19	g.35849321T>G	CA405407156	NPHS1	c.755A>C (p.Glu252Ala)
19	g.35849321dup	CA2584603916	NPHS1	c.755dup (p.His254AlafsTer18)	gnomAD v4
19	g.35849322C>A	CA405407157	NPHS1	c.754G>T (p.Glu252Ter)	dbSNP
19	g.35849322C=	CA2333850845	NPHS1	c.754G= (p.Glu252=)
19	g.35849322C>G	CA405407159	NPHS1	c.754G>C (p.Glu252Gln)
19	g.35849322C>T	CA405407158	NPHS1	c.754G>A (p.Glu252Lys)
19	g.35849323A>C	CA405407160	NPHS1	c.753T>G (p.Asp251Glu)	gnomAD v4
19	g.35849323A>G	CA507314663	NPHS1	c.753T>C (p.Asp251=)
19	g.35849323A>T	CA405407161	NPHS1	c.753T>A (p.Asp251Glu)
19	g.35849324T>A	CA405407162	NPHS1	c.752A>T (p.Asp251Val)
19	g.35849324T>C	CA405407163	NPHS1	c.752A>G (p.Asp251Gly)
19	g.35849324T>G	CA405407164	NPHS1	c.752A>C (p.Asp251Ala)
19	g.35849325C>A	CA405407165	NPHS1	c.751G>T (p.Asp251Tyr)
19	g.35849325C=	CA2333850846	NPHS1	c.751G= (p.Asp251=)
19	g.35849325C>G	CA405407166	NPHS1	c.751G>C (p.Asp251His)
19	g.35849325C>T	CA405407167	NPHS1	c.751G>A (p.Asp251Asn)	dbSNP gnomAD v4 COSMIC
19	g.35849326C>A	CA507314671	NPHS1	c.750G>T (p.Leu250=)
19	g.35849326C=	CA2333850847	NPHS1	c.750G= (p.Leu250=)
19	g.35849326C>G	CA507314672	NPHS1	c.750G>C (p.Leu250=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849326C>T	CA507314673	NPHS1	c.750G>A (p.Leu250=)
19	g.35849327A>C	CA405407168	NPHS1	c.749T>G (p.Leu250Arg)
19	g.35849327A>G	CA405407169	NPHS1	c.749T>C (p.Leu250Pro)
19	g.35849327A>T	CA405407170	NPHS1	c.749T>A (p.Leu250Gln)
19	g.35849328G>A	CA507314676	NPHS1	c.748C>T (p.Leu250=)
19	g.35849328G>C	CA405407171	NPHS1	c.748C>G (p.Leu250Val)
19	g.35849328G>T	CA405407172	NPHS1	c.748C>A (p.Leu250Met)	gnomAD v4
19	g.35849329G>A	CA507314680	NPHS1	c.747C>T (p.Gly249=)	dbSNP gnomAD v2
19	g.35849329G>C	CA507314678	NPHS1	c.747C>G (p.Gly249=)
19	g.35849329G=	CA2333850848	NPHS1	c.747C= (p.Gly249=)
19	g.35849329G>T	CA507314679	NPHS1	c.747C>A (p.Gly249=)	dbSNP gnomAD v3 gnomAD v4
19	g.35849330C>A	CA405407173	NPHS1	c.746G>T (p.Gly249Val)
19	g.35849330C>G	CA405407175	NPHS1	c.746G>C (p.Gly249Ala)
19	g.35849330C>T	CA405407174	NPHS1	c.746G>A (p.Gly249Asp)
19	g.35849331C>A	CA405407176	NPHS1	c.745G>T (p.Gly249Cys)
19	g.35849331C>G	CA405407177	NPHS1	c.745G>C (p.Gly249Arg)
19	g.35849331C>T	CA405407178	NPHS1	c.745G>A (p.Gly249Ser)
19	g.35849332T>A	CA507314682	NPHS1	c.744A>T (p.Pro248=)
19	g.35849332T>C	CA507314683	NPHS1	c.744A>G (p.Pro248=)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.35849332T>G	CA507314684	NPHS1	c.744A>C (p.Pro248=)
19	g.35849332T=	CA2333850849	NPHS1	c.744A= (p.Pro248=)
19	g.35849333G>A	CA405407180	NPHS1	c.743C>T (p.Pro248Leu)
19	g.35849333G>C	CA405407181	NPHS1	c.743C>G (p.Pro248Arg)	gnomAD v4
19	g.35849333G>T	CA405407183	NPHS1	c.743C>A (p.Pro248Gln)
19	g.35849334G>A	CA307788090	NPHS1	c.742C>T (p.Pro248Ser)	dbSNP gnomAD v4
19	g.35849334G>C	CA405407186	NPHS1	c.742C>G (p.Pro248Ala)
19	g.35849334G=	CA2333850850	NPHS1	c.742C= (p.Pro248=)
19	g.35849334G>T	CA405407189	NPHS1	c.742C>A (p.Pro248Thr)
19	g.35849335C>A	CA9390671	NPHS1	c.741G>T (p.Trp247Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35849335C=	CA2333850851	NPHS1	c.741G= (p.Trp247=)
19	g.35849335C>G	CA405407196	NPHS1	c.741G>C (p.Trp247Cys)
19	g.35849335C>T	CA405407193	NPHS1	c.741G>A (p.Trp247Ter)
19	g.35849336C>A	CA405407202	NPHS1	c.740G>T (p.Trp247Leu)
19	g.35849336C=	CA2333850852	NPHS1	c.740G= (p.Trp247=)
19	g.35849336C>G	CA405407210	NPHS1	c.740G>C (p.Trp247Ser)
19	g.35849336C>T	CA405407206	NPHS1	c.740G>A (p.Trp247Ter)	ClinVar dbSNP gnomAD v4
19	g.35849337del	CA2695198195	NPHS1	c.739del (p.Trp247GlyfsTer27)	ClinVar
19	g.35849337A>C	CA405407214	NPHS1	c.739T>G (p.Trp247Gly)
19	g.35849337A>G	CA405407218	NPHS1	c.739T>C (p.Trp247Arg)
19	g.35849337A>T	CA405407216	NPHS1	c.739T>A (p.Trp247Arg)
19	g.35849338C>A	CA405407223	NPHS1	c.738G>T (p.Glu246Asp)	dbSNP gnomAD v3 gnomAD v4
19	g.35849338C=	CA2333850853	NPHS1	c.738G= (p.Glu246=)
19	g.35849338C>G	CA405407225	NPHS1	c.738G>C (p.Glu246Asp)
19	g.35849338C>T	CA507314692	NPHS1	c.738G>A (p.Glu246=)	gnomAD v4
19	g.35849339T>A	CA405407230	NPHS1	c.737A>T (p.Glu246Val)
19	g.35849339T>C	CA405407234	NPHS1	c.737A>G (p.Glu246Gly)
19	g.35849339T>G	CA405407237	NPHS1	c.737A>C (p.Glu246Ala)
19	g.35849340C>A	CA250270	NPHS1	c.736G>T (p.Glu246Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35849340C=	CA2333850854	NPHS1	c.736G= (p.Glu246=)
19	g.35849340C>G	CA405407245	NPHS1	c.736G>C (p.Glu246Gln)
19	g.35849340C>T	CA9390672	NPHS1	c.736G>A (p.Glu246Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849341G>A	CA507314693	NPHS1	c.735C>T (p.Ile245=)	ClinVar dbSNP gnomAD v4
19	g.35849341G>C	CA405407249	NPHS1	c.735C>G (p.Ile245Met)
19	g.35849341G=	CA2333850856	NPHS1	c.735C= (p.Ile245=)
19	g.35849341G>T	CA507314694	NPHS1	c.735C>A (p.Ile245=)	dbSNP
19	g.35849341_35849365delinsGATGACAGGGGGTCCTGGAGGGACT	CA2333850855	NPHS1	c.713-2_735delinsAGTCCCTCCAGGACCCCCTGTCATC
19	g.35849342A>C	CA405407252	NPHS1	c.734T>G (p.Ile245Ser)
19	g.35849342A>G	CA405407255	NPHS1	c.734T>C (p.Ile245Thr)
19	g.35849342A>T	CA405407258	NPHS1	c.734T>A (p.Ile245Asn)
19	g.35849342_35849365del	CA633060973	NPHS1	c.713-2_734del	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849343T>A	CA405407266	NPHS1	c.733A>T (p.Ile245Phe)	dbSNP gnomAD v3 gnomAD v4
19	g.35849343T>C	CA307788131	NPHS1	c.733A>G (p.Ile245Val)	dbSNP gnomAD v3 gnomAD v4
19	g.35849343T>G	CA9390673	NPHS1	c.733A>C (p.Ile245Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849343T=	CA2333850857	NPHS1	c.733A= (p.Ile245=)
19	g.35849344G>A	CA507314700	NPHS1	c.732C>T (p.Val244=)
19	g.35849344G>C	CA507314701	NPHS1	c.732C>G (p.Val244=)
19	g.35849344G>T	CA507314702	NPHS1	c.732C>A (p.Val244=)
19	g.35849345A>C	CA405407275	NPHS1	c.731T>G (p.Val244Gly)
19	g.35849345A>G	CA405407278	NPHS1	c.731T>C (p.Val244Ala)
19	g.35849345A>T	CA405407282	NPHS1	c.731T>A (p.Val244Asp)
19	g.35849346C>A	CA9390675	NPHS1	c.730G>T (p.Val244Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35849346C=	CA2333850859	NPHS1	c.730G= (p.Val244=)
19	g.35849346C>G	CA405407290	NPHS1	c.730G>C (p.Val244Leu)
19	g.35849346C>T	CA9390674	NPHS1	c.730G>A (p.Val244Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35849346_35849348delinsCAG	CA2333850858	NPHS1	c.728_730delinsCTG (p.Pro243=)
19	g.35849347del	CA2584603917	NPHS1	c.729del (p.Val244SerfsTer?)	gnomAD v4
19	g.35849347A=	CA2333850860	NPHS1	c.729T= (p.Pro243=)
19	g.35849347A>C	CA507314707	NPHS1	c.729T>G (p.Pro243=)
19	g.35849347A>G	CA507314709	NPHS1	c.729T>C (p.Pro243=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.35849347A>T	CA507314710	NPHS1	c.729T>A (p.Pro243=)
19	g.35849347_35849348del	CA633060974	NPHS1	c.728_729del (p.Pro243ArgfsTer9)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849348G>A	CA307788164	NPHS1	c.728C>T (p.Pro243Leu)	ClinVar dbSNP
19	g.35849348G>C	CA405407295	NPHS1	c.728C>G (p.Pro243Arg)
19	g.35849348G=	CA2333850861	NPHS1	c.728C= (p.Pro243=)
19	g.35849348G>T	CA405407298	NPHS1	c.728C>A (p.Pro243His)
19	g.35849349G>A	CA405407305	NPHS1	c.727C>T (p.Pro243Ser)
19	g.35849349G>C	CA405407307	NPHS1	c.727C>G (p.Pro243Ala)
19	g.35849349G>T	CA405407302	NPHS1	c.727C>A (p.Pro243Thr)
19	g.35849350G>A	CA10642637	NPHS1	c.726C>T (p.Pro242=)	ClinVar dbSNP
19	g.35849350G>C	CA507314714	NPHS1	c.726C>G (p.Pro242=)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.35849350G=	CA2333850862	NPHS1	c.726C= (p.Pro242=)
19	g.35849350G>T	CA507314713	NPHS1	c.726C>A (p.Pro242=)	gnomAD v4
19	g.35849351G>A	CA405407311	NPHS1	c.725C>T (p.Pro242Leu)	dbSNP gnomAD v2 gnomAD v4
19	g.35849351G>C	CA405407314	NPHS1	c.725C>G (p.Pro242Arg)	gnomAD v4
19	g.35849351G=	CA2333850863	NPHS1	c.725C= (p.Pro242=)
19	g.35849351G>T	CA405407318	NPHS1	c.725C>A (p.Pro242His)
19	g.35849352G>A	CA405407327	NPHS1	c.724C>T (p.Pro242Ser)
19	g.35849352G>C	CA9390676	NPHS1	c.724C>G (p.Pro242Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35849352G=	CA2333850864	NPHS1	c.724C= (p.Pro242=)
19	g.35849352G>T	CA405407322	NPHS1	c.724C>A (p.Pro242Thr)	gnomAD v4
19	g.35849353T>A	CA507314716	NPHS1	c.723A>T (p.Gly241=)
19	g.35849353T>C	CA507314719	NPHS1	c.723A>G (p.Gly241=)
19	g.35849353T>G	CA507314720	NPHS1	c.723A>C (p.Gly241=)
19	g.35849354C>A	CA405407332	NPHS1	c.722G>T (p.Gly241Val)
19	g.35849354C=	CA2333850865	NPHS1	c.722G= (p.Gly241=)
19	g.35849354C>G	CA405407335	NPHS1	c.722G>C (p.Gly241Ala)	COSMIC
19	g.35849354C>T	CA9390677	NPHS1	c.722G>A (p.Gly241Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849355C>A	CA405407342	NPHS1	c.721G>T (p.Gly241Ter)	gnomAD v4
19	g.35849355C>G	CA405407345	NPHS1	c.721G>C (p.Gly241Arg)
19	g.35849355C>T	CA405407348	NPHS1	c.721G>A (p.Gly241Arg)	gnomAD v4
19	g.35849356T>A	CA507314722	NPHS1	c.720A>T (p.Pro240=)
19	g.35849356T>C	CA507314723	NPHS1	c.720A>G (p.Pro240=)
19	g.35849356T>G	CA507314724	NPHS1	c.720A>C (p.Pro240=)	gnomAD v4
19	g.35849357G>A	CA405407352	NPHS1	c.719C>T (p.Pro240Leu)
19	g.35849357G>C	CA405407359	NPHS1	c.719C>G (p.Pro240Arg)
19	g.35849357G>T	CA405407356	NPHS1	c.719C>A (p.Pro240Gln)
19	g.35849358G>A	CA405407363	NPHS1	c.718C>T (p.Pro240Ser)
19	g.35849358G>C	CA405407365	NPHS1	c.718C>G (p.Pro240Ala)
19	g.35849358G>T	CA405407368	NPHS1	c.718C>A (p.Pro240Thr)
19	g.35849359A>C	CA507314725	NPHS1	c.717T>G (p.Pro239=)
19	g.35849359A>G	CA507314726	NPHS1	c.717T>C (p.Pro239=)
19	g.35849359A>T	CA507314728	NPHS1	c.717T>A (p.Pro239=)
19	g.35849360G>A	CA405407372	NPHS1	c.716C>T (p.Pro239Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849360G>C	CA405407375	NPHS1	c.716C>G (p.Pro239Arg)
19	g.35849360G=	CA2333850866	NPHS1	c.716C= (p.Pro239=)
19	g.35849360G>T	CA405407377	NPHS1	c.716C>A (p.Pro239His)
19	g.35849361G>A	CA405407382	NPHS1	c.715C>T (p.Pro239Ser)	COSMIC
19	g.35849361G>C	CA405407386	NPHS1	c.715C>G (p.Pro239Ala)
19	g.35849361G>T	CA405407389	NPHS1	c.715C>A (p.Pro239Thr)	COSMIC
19	g.35849361_35849362delinsAA	CA645619649	NPHS1	c.714_715delinsTT (p.Pro239Ser)	COSMIC
19	g.35849362G>A	CA507314730	NPHS1	c.714C>T (p.Phe238=)
19	g.35849362G>C	CA405407394	NPHS1	c.714C>G (p.Phe238Leu)
19	g.35849362G>T	CA405407396	NPHS1	c.714C>A (p.Phe238Leu)	COSMIC
19	g.35849363A>C	CA405407405	NPHS1	c.713T>G (p.Phe238Cys)
19	g.35849363A>G	CA405407403	NPHS1	c.713T>C (p.Phe238Ser)
19	g.35849363A>T	CA405407401	NPHS1	c.713T>A (p.Phe238Tyr)
19	g.35849364C>A	CA405407407	NPHS1	c.713-1G>T (n.713-1G>T)
19	g.35849364C>G	CA405407413	NPHS1	c.713-1G>C (n.713-1G>C)	gnomAD v4
19	g.35849364C>T	CA405407410	NPHS1	c.713-1G>A (n.713-1G>A)	ClinVar gnomAD v4
19	g.35849365T>A	CA405407418	NPHS1	c.713-2A>T (n.713-2A>T)	ClinVar dbSNP
19	g.35849365T>C	CA405407420	NPHS1	c.713-2A>G (n.713-2A>G)
19	g.35849365T>G	CA405407423	NPHS1	c.713-2A>C (n.713-2A>C)
19	g.35849366G>A	CA2333850868	NPHS1	c.713-3C>T (n.713-3C>T)	dbSNP gnomAD v4
19	g.35849366G=	CA2333850867	NPHS1	c.713-3C= (n.713-3C=)
19	g.35849367G>A	CA633060975	NPHS1	c.713-4C>T (n.713-4C>T)	dbSNP gnomAD v2
19	g.35849367G=	CA2333850869	NPHS1	c.713-4C= (n.713-4C=)
19	g.35849368G>A	CA2333850871	NPHS1	c.713-5C>T (n.713-5C>T)	ClinVar dbSNP
19	g.35849368G=	CA2333850870	NPHS1	c.713-5C= (n.713-5C=)
19	g.35849369G>A	CA9390678	NPHS1	c.713-6C>T (n.713-6C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35849369G>C	CA2573156264	NPHS1	c.713-6C>G (n.713-6C>G)	ClinVar dbSNP
19	g.35849369G=	CA2333850872	NPHS1	c.713-6C= (n.713-6C=)
19	g.35849370G>A	CA9390679	NPHS1	c.713-7C>T (n.713-7C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19	g.35849370G>C	CA881820849	NPHS1	c.713-7C>G (n.713-7C>G)	dbSNP
19	g.35849370G=	CA2333850873	NPHS1	c.713-7C= (n.713-7C=)
19	g.35849370G>T	CA2580096888	NPHS1	c.713-7C>A (n.713-7C>A)	ClinVar
19	g.35849370_35849372del	CA2536252057	NPHS1	c.713-9_713-7del (n.713-9_713-7del)
19	g.35849371del	CA2739276692	NPHS1	c.713-8del (n.713-8del)	ClinVar
19	g.35849371A=	CA2333850874	NPHS1	c.713-8T= (n.713-8T=)
19	g.35849371A>G	CA633060976	NPHS1	c.713-8T>C (n.713-8T>C)	dbSNP gnomAD v2 gnomAD v4
19	g.35849373A=	CA2333850875	NPHS1	c.713-10T= (n.713-10T=)
19	g.35849373A>G	CA9390680	NPHS1	c.713-10T>C (n.713-10T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.35849376A>C	CA2584603918	NPHS1	c.713-13T>G (n.713-13T>G)	gnomAD v4
19	g.35849376A>G	CA2584603919	NPHS1	c.713-13T>C (n.713-13T>C)	gnomAD v4
19	g.35849377G>A	CA633060977	NPHS1	c.713-14C>T (n.713-14C>T)	dbSNP gnomAD v2 gnomAD v4
19	g.35849377G=	CA2333850876	NPHS1	c.713-14C= (n.713-14C=)
19	g.35849378T=	CA2333850877	NPHS1	c.713-15A= (n.713-15A=)
19	g.35849379C>A	CA2584603921	NPHS1	c.713-16G>T (n.713-16G>T)	gnomAD v4
19	g.35849379C>T	CA2584603920	NPHS1	c.713-16G>A (n.713-16G>A)	gnomAD v4
19	g.35849379dup	CA633060978	NPHS1	c.713-16dup (n.713-16dup)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.35849381C=	CA2333850878	NPHS1	c.713-18G= (n.713-18G=)
19	g.35849381C>T	CA307788180	NPHS1	c.713-18G>A (n.713-18G>A)	ClinVar dbSNP gnomAD v4
19	g.35849382T>C	CA9390681	NPHS1	c.713-19A>G (n.713-19A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35849382T=	CA2333850879	NPHS1	c.713-19A= (n.713-19A=)
19	g.35849388G>A	CA2333850881	NPHS1	c.713-25C>T (n.713-25C>T)	dbSNP
19	g.35849388G=	CA2333850880	NPHS1	c.713-25C= (n.713-25C=)
19	g.35849389G>A	CA633060979	NPHS1	c.713-26C>T (n.713-26C>T)	dbSNP gnomAD v2 gnomAD v4
19	g.35849389G>C	CA2584603922	NPHS1	c.713-26C>G (n.713-26C>G)	gnomAD v4
19	g.35849389G=	CA2333850882	NPHS1	c.713-26C= (n.713-26C=)
19	g.35849390C>G	CA2584603923	NPHS1	c.713-27G>C (n.713-27G>C)	gnomAD v4
19	g.35849390C>T	CA2584603924	NPHS1	c.713-27G>A (n.713-27G>A)	gnomAD v4
19	g.35849391C>A	CA2527606865	NPHS1	c.713-28G>T (n.713-28G>T)
19	g.35849393G>T	CA2584603925	NPHS1	c.713-30C>A (n.713-30C>A)	gnomAD v4
19	g.35849394G>A	CA2576758973	NPHS1	c.713-31C>T (n.713-31C>T)
19	g.35849394G>T	CA2584603926	NPHS1	c.713-31C>A (n.713-31C>A)	gnomAD v4

Number of alleles fetched