Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
19	g.35848087C>A	CA405403916	NPHS1	c.1394G>T (p.Cys465Phe) n.401G>T
19	g.35848087C=	CA2333850449	NPHS1	c.1394G= (p.Cys465=) n.401G=
19	g.35848087C>G	CA405403920	NPHS1	c.1394G>C (p.Cys465Ser) n.401G>C
19	g.35848087C>T	CA250121	NPHS1	c.1394G>A (p.Cys465Tyr) n.401G>A	ClinVar dbSNP
19	g.35848088A>C	CA405403931	NPHS1	c.1393T>G (p.Cys465Gly) n.400T>G
19	g.35848088A>G	CA405403934	NPHS1	c.1393T>C (p.Cys465Arg) n.400T>C
19	g.35848088A>T	CA405403938	NPHS1	c.1393T>A (p.Cys465Ser) n.400T>A
19	g.35848089C>A	CA507314317	NPHS1	c.1392G>T (p.Val464=) n.399G>T
19	g.35848089C>G	CA507314318	NPHS1	c.1392G>C (p.Val464=) n.399G>C
19	g.35848089C>T	CA507314319	NPHS1	c.1392G>A (p.Val464=) n.399G>A
19	g.35848089_35848090insCCCA	CA2814253228	NPHS1	c.1391_1392insTGGG (p.Cys465GlyfsTer?) n.398_399insTGGG
19	g.35848090A=	CA2333850450	NPHS1	c.1391T= (p.Val464=) n.398T=
19	g.35848090A>C	CA405403942	NPHS1	c.1391T>G (p.Val464Gly) n.398T>G	dbSNP
19	g.35848090A>G	CA405403945	NPHS1	c.1391T>C (p.Val464Ala) n.398T>C
19	g.35848090A>T	CA405403949	NPHS1	c.1391T>A (p.Val464Glu) n.398T>A	dbSNP gnomAD v2 gnomAD v4
19	g.35848091C>A	CA405403960	NPHS1	c.1390G>T (p.Val464Leu) n.397G>T
19	g.35848091C>G	CA405403964	NPHS1	c.1390G>C (p.Val464Leu) n.397G>C
19	g.35848091C>T	CA405403955	NPHS1	c.1390G>A (p.Val464Met) n.397G>A	gnomAD v4
19	g.35848091_35848092insA	CA2814253230	NPHS1	c.1389_1390insT (p.Val464CysfsTer?) n.396_397insT
19	g.35848092C>A	CA507314320	NPHS1	c.1389G>T (p.Leu463=) n.396G>T
19	g.35848092C>G	CA507314321	NPHS1	c.1389G>C (p.Leu463=) n.396G>C	gnomAD v4
19	g.35848092C>T	CA507314322	NPHS1	c.1389G>A (p.Leu463=) n.396G>A	gnomAD v4
19	g.35848092_35848093insCAACAC	CA2814253229	NPHS1	c.1389_1390insTGTTGG (p.Leu463_Val464insCysTrp) n.396_397insTGTTGG
19	g.35848093A>C	CA405403970	NPHS1	c.1388T>G (p.Leu463Arg) n.395T>G	dbSNP
19	g.35848093A>G	CA405403966	NPHS1	c.1388T>C (p.Leu463Pro) n.395T>C
19	g.35848093A>T	CA405403973	NPHS1	c.1388T>A (p.Leu463Gln) n.395T>A
19	g.35848093_35848094del	CA2814253233	NPHS1	c.1387_1388del (p.Leu463GlyfsTer?) n.394_395del
19	g.35848094G>A	CA507314323	NPHS1	c.1387C>T (p.Leu463=) n.394C>T
19	g.35848094G>C	CA405403977	NPHS1	c.1387C>G (p.Leu463Val) n.394C>G	COSMIC
19	g.35848094G>T	CA405403979	NPHS1	c.1387C>A (p.Leu463Met) n.394C>A
19	g.35848095C>A	CA9390449	NPHS1	c.1386G>T (p.Arg462Ser) n.393G>T	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.35848095C=	CA2333850451	NPHS1	c.1386G= (p.Arg462=) n.393G=
19	g.35848095C>G	CA405403984	NPHS1	c.1386G>C (p.Arg462Ser) n.393G>C
19	g.35848095C>T	CA507314324	NPHS1	c.1386G>A (p.Arg462=) n.393G>A
19	g.35848095_35848096insAA	CA2814253234	NPHS1	c.1385_1386insTT (p.Arg462SerfsTer25) n.392_393insTT
19	g.35848096C>A	CA405403990	NPHS1	c.1385G>T (p.Arg462Met) n.392G>T
19	g.35848096C>G	CA405404004	NPHS1	c.1385G>C (p.Arg462Thr) n.392G>C
19	g.35848096C>T	CA405404008	NPHS1	c.1385G>A (p.Arg462Lys) n.392G>A	COSMIC
19	g.35848097T>A	CA405404013	NPHS1	c.1384A>T (p.Arg462Trp) n.391A>T
19	g.35848097T>C	CA405404016	NPHS1	c.1384A>G (p.Arg462Gly) n.391A>G
19	g.35848097T>G	CA507314325	NPHS1	c.1384A>C (p.Arg462=) n.391A>C
19	g.35848098C>A	CA507314326	NPHS1	c.1383G>T (p.Val461=) n.390G>T	gnomAD v4
19	g.35848098C=	CA2333850452	NPHS1	c.1383G= (p.Val461=) n.390G=
19	g.35848098C>G	CA507314327	NPHS1	c.1383G>C (p.Val461=) n.390G>C
19	g.35848098C>T	CA507314328	NPHS1	c.1383G>A (p.Val461=) n.390G>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.35848099A>C	CA405404025	NPHS1	c.1382T>G (p.Val461Gly) n.389T>G
19	g.35848099A>G	CA405404026	NPHS1	c.1382T>C (p.Val461Ala) n.389T>C
19	g.35848099A>T	CA405404027	NPHS1	c.1382T>A (p.Val461Glu) n.389T>A
19	g.35848100C>A	CA405404028	NPHS1	c.1381G>T (p.Val461Leu) n.388G>T
19	g.35848100C>G	CA405404030	NPHS1	c.1381G>C (p.Val461Leu) n.388G>C	gnomAD v4

Number of alleles fetched