Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.128916620_128916639delinsCCCACTGCTGGGGGGCTGTG	CA2008294871	KCNJ5	c.1149_1168delinsCCCACTGCTGGGGGGCTGTG (p.Pro383=)
11	g.128916622_128916640del	CA2008294874	KCNJ5	c.1151_1169del (p.Pro384LeufsTer?)	dbSNP
11	g.128916634dup	CA943430883	KCNJ5	c.1163dup (p.Cys389LeufsTer3)	ClinVar dbSNP gnomAD v3 gnomAD v4
11	g.128916630G>A	CA383236036	KCNJ5	c.1159G>A (p.Gly387Arg)
11	g.128916630G>C	CA254574	KCNJ5	c.1159G>C (p.Gly387Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.128916630G=	CA2008294881	KCNJ5	c.1159G= (p.Gly387=)
11	g.128916630G>T	CA383236037	KCNJ5	c.1159G>T (p.Gly387Trp)
11	g.128916631G>A	CA6358009	KCNJ5	c.1160G>A (p.Gly387Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.128916631G>C	CA383236038	KCNJ5	c.1160G>C (p.Gly387Ala)
11	g.128916631G=	CA2008294882	KCNJ5	c.1160G= (p.Gly387=)
11	g.128916631G>T	CA383236039	KCNJ5	c.1160G>T (p.Gly387Val)
11	g.128916632G>A	CA477704189	KCNJ5	c.1161G>A (p.Gly387=)	gnomAD v4 COSMIC
11	g.128916632G>C	CA477704190	KCNJ5	c.1161G>C (p.Gly387=)	ClinVar dbSNP
11	g.128916632G>T	CA477704191	KCNJ5	c.1161G>T (p.Gly387=)	COSMIC
11	g.128916633G>A	CA383236041	KCNJ5	c.1162G>A (p.Gly388Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
11	g.128916633G>C	CA383236043	KCNJ5	c.1162G>C (p.Gly388Arg)
11	g.128916633G=	CA2008294883	KCNJ5	c.1162G= (p.Gly388=)
11	g.128916633G>T	CA6358010	KCNJ5	c.1162G>T (p.Gly388Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.128916634G>A	CA6358011	KCNJ5	c.1163G>A (p.Gly388Asp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.128916634G>C	CA383236048	KCNJ5	c.1163G>C (p.Gly388Ala)	gnomAD v4
11	g.128916634G=	CA2008294884	KCNJ5	c.1163G= (p.Gly388=)
11	g.128916634G>T	CA383236049	KCNJ5	c.1163G>T (p.Gly388Val)	dbSNP gnomAD v2 gnomAD v4
11	g.128916638_128916642del	CA645570114	KCNJ5	c.1167_1171del (p.Cys389Ter)	COSMIC
11	g.128916635C>A	CA477704192	KCNJ5	c.1164C>A (p.Gly388=)
11	g.128916635C>G	CA477704193	KCNJ5	c.1164C>G (p.Gly388=)
11	g.128916635C>T	CA477704194	KCNJ5	c.1164C>T (p.Gly388=)
11	g.128916636T>A	CA383236051	KCNJ5	c.1165T>A (p.Cys389Ser)
11	g.128916636T>C	CA383236053	KCNJ5	c.1165T>C (p.Cys389Arg)
11	g.128916636T>G	CA383236055	KCNJ5	c.1165T>G (p.Cys389Gly)
11	g.128916637G>A	CA6358012	KCNJ5	c.1166G>A (p.Cys389Tyr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.128916637G>C	CA383236058	KCNJ5	c.1166G>C (p.Cys389Ser)
11	g.128916637G=	CA2008294885	KCNJ5	c.1166G= (p.Cys389=)
11	g.128916637G>T	CA383236060	KCNJ5	c.1166G>T (p.Cys389Phe)
11	g.128916638T>A	CA383236063	KCNJ5	c.1167T>A (p.Cys389Ter)
11	g.128916638T>C	CA477704195	KCNJ5	c.1167T>C (p.Cys389=)
11	g.128916638T>G	CA383236065	KCNJ5	c.1167T>G (p.Cys389Trp)
11	g.128916639G>A	CA383236067	KCNJ5	c.1168G>A (p.Ala390Thr)
11	g.128916639G>C	CA383236069	KCNJ5	c.1168G>C (p.Ala390Pro)
11	g.128916639G>T	CA383236070	KCNJ5	c.1168G>T (p.Ala390Ser)
11	g.128916640C>A	CA383236073	KCNJ5	c.1169C>A (p.Ala390Asp)
11	g.128916640C=	CA2008294886	KCNJ5	c.1169C= (p.Ala390=)
11	g.128916640C>G	CA383236074	KCNJ5	c.1169C>G (p.Ala390Gly)
11	g.128916640C>T	CA6358013	KCNJ5	c.1169C>T (p.Ala390Val)	dbSNP ExAC gnomAD v2
11	g.128916641T>A	CA477704198	KCNJ5	c.1170T>A (p.Ala390=)
11	g.128916641T>C	CA477704196	KCNJ5	c.1170T>C (p.Ala390=)
11	g.128916641T>G	CA477704197	KCNJ5	c.1170T>G (p.Ala390=)
11	g.128916642G>A	CA383236077	KCNJ5	c.1171G>A (p.Glu391Lys)
11	g.128916642G>C	CA383236079	KCNJ5	c.1171G>C (p.Glu391Gln)
11	g.128916642G>T	CA383236082	KCNJ5	c.1171G>T (p.Glu391Ter)
11	g.128916643A>C	CA383236087	KCNJ5	c.1172A>C (p.Glu391Ala)	gnomAD v4

Number of alleles fetched