Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.128916622dup	CA2008294869	KCNJ5	c.1151dup (p.Leu385ThrfsTer7)	ClinVar dbSNP gnomAD v4
11	g.128916622del	CA2616776010	KCNJ5	c.1151del (p.Pro384HisfsTer?)	ClinVar gnomAD v4
11	g.128916620C>A	CA477704177	KCNJ5	c.1149C>A (p.Pro383=)
11	g.128916620C=	CA2008294872	KCNJ5	c.1149C= (p.Pro383=)
11	g.128916620C>G	CA477704178	KCNJ5	c.1149C>G (p.Pro383=)
11	g.128916620C>T	CA6358005	KCNJ5	c.1149C>T (p.Pro383=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.128916620_128916639delinsCCCACTGCTGGGGGGCTGTG	CA2008294871	KCNJ5	c.1149_1168delinsCCCACTGCTGGGGGGCTGTG (p.Pro383=)
11	g.128916621C>A	CA383236023	KCNJ5	c.1150C>A (p.Pro384Thr)	dbSNP gnomAD v3 gnomAD v4
11	g.128916621C=	CA2008294873	KCNJ5	c.1150C= (p.Pro384=)
11	g.128916621C>G	CA383236024	KCNJ5	c.1150C>G (p.Pro384Ala)	gnomAD v4
11	g.128916621C>T	CA383236025	KCNJ5	c.1150C>T (p.Pro384Ser)	gnomAD v4 COSMIC
11	g.128916622_128916640del	CA2008294874	KCNJ5	c.1151_1169del (p.Pro384LeufsTer?)	dbSNP
11	g.128916622C>A	CA383236026	KCNJ5	c.1151C>A (p.Pro384Gln)	ClinVar dbSNP gnomAD v4
11	g.128916622C=	CA2008294875	KCNJ5	c.1151C= (p.Pro384=)
11	g.128916622C>G	CA6358006	KCNJ5	c.1151C>G (p.Pro384Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.128916622C>T	CA230583289	KCNJ5	c.1151C>T (p.Pro384Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.128916623A=	CA2008294876	KCNJ5	c.1152A= (p.Pro384=)
11	g.128916623A>C	CA477704180	KCNJ5	c.1152A>C (p.Pro384=)	ClinVar dbSNP gnomAD v2 gnomAD v4
11	g.128916623A>G	CA230583291	KCNJ5	c.1152A>G (p.Pro384=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.128916623A>T	CA477704179	KCNJ5	c.1152A>T (p.Pro384=)
11	g.128916624C>A	CA383236027	KCNJ5	c.1153C>A (p.Leu385Met)	dbSNP gnomAD v4
11	g.128916624C>G	CA383236028	KCNJ5	c.1153C>G (p.Leu385Val)
11	g.128916624C>T	CA477704181	KCNJ5	c.1153C>T (p.Leu385=)
11	g.128916624dup	CA477704182	KCNJ5	c.1153dup (p.Leu385ProfsTer7)	ClinVar dbSNP
11	g.128916624_128916625del	CA2575025436	KCNJ5	c.1153_1154del (p.Leu385AlafsTer6)	gnomAD v4
11	g.128916625T>A	CA383236029	KCNJ5	c.1154T>A (p.Leu385Gln)
11	g.128916625T>C	CA383236030	KCNJ5	c.1154T>C (p.Leu385Pro)	dbSNP gnomAD v2 gnomAD v4
11	g.128916625T>G	CA6358007	KCNJ5	c.1154T>G (p.Leu385Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.128916625T=	CA2008294877	KCNJ5	c.1154T= (p.Leu385=)
11	g.128916626G>A	CA477704183	KCNJ5	c.1155G>A (p.Leu385=)
11	g.128916626G>C	CA477704184	KCNJ5	c.1155G>C (p.Leu385=)	dbSNP gnomAD v2 gnomAD v4
11	g.128916626G=	CA2008294878	KCNJ5	c.1155G= (p.Leu385=)
11	g.128916626G>T	CA477704185	KCNJ5	c.1155G>T (p.Leu385=)	ClinVar dbSNP gnomAD v3 gnomAD v4
11	g.128916627C>A	CA383236031	KCNJ5	c.1156C>A (p.Leu386Met)	gnomAD v4
11	g.128916627C>G	CA383236032	KCNJ5	c.1156C>G (p.Leu386Val)
11	g.128916627C>T	CA477704186	KCNJ5	c.1156C>T (p.Leu386=)
11	g.128916627_128916628insAG	CA2575025437	KCNJ5	c.1156_1157insAG (p.Leu386GlnfsTer?)	gnomAD v4
11	g.128916628T>A	CA383236033	KCNJ5	c.1157T>A (p.Leu386Gln)
11	g.128916628T>C	CA383236035	KCNJ5	c.1157T>C (p.Leu386Pro)
11	g.128916628T>G	CA383236034	KCNJ5	c.1157T>G (p.Leu386Arg)
11	g.128916628T=	CA2008294879	KCNJ5	c.1157T= (p.Leu386=)
11	g.128916629G>A	CA477704187	KCNJ5	c.1158G>A (p.Leu386=)
11	g.128916629G>C	CA6358008	KCNJ5	c.1158G>C (p.Leu386=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.128916629G=	CA2008294880	KCNJ5	c.1158G= (p.Leu386=)
11	g.128916629G>T	CA477704188	KCNJ5	c.1158G>T (p.Leu386=)
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)

Number of alleles fetched