Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.70175565_70175570dup	CA915952198	KCNJ2	c.526_531dup (p.Gly177_Ala178insIleGly)	ClinVar dbSNP
17	g.70175568G>A	CA400860870	KCNJ2	c.529G>A (p.Gly177Ser)	ClinVar dbSNP
17	g.70175568G>C	CA400860872	KCNJ2	c.529G>C (p.Gly177Arg)
17	g.70175568G=	CA2272996609	KCNJ2	c.529G= (p.Gly177=)
17	g.70175568G>T	CA400860874	KCNJ2	c.529G>T (p.Gly177Cys)
17	g.70175569G>A	CA400860878	KCNJ2	c.530G>A (p.Gly177Asp)
17	g.70175569G>C	CA293702917	KCNJ2	c.530G>C (p.Gly177Ala)	dbSNP
17	g.70175569G=	CA2272996610	KCNJ2	c.530G= (p.Gly177=)
17	g.70175569G>T	CA400860876	KCNJ2	c.530G>T (p.Gly177Val)	COSMIC
17	g.70175570C>A	CA501700810	KCNJ2	c.531C>A (p.Gly177=)	ClinVar
17	g.70175570C=	CA2272996611	KCNJ2	c.531C= (p.Gly177=)
17	g.70175570C>G	CA501700811	KCNJ2	c.531C>G (p.Gly177=)	dbSNP gnomAD v2 gnomAD v4
17	g.70175570C>T	CA8738740	KCNJ2	c.531C>T (p.Gly177=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.70175571G>A	CA400860881	KCNJ2	c.532G>A (p.Ala178Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.70175571G>C	CA400860884	KCNJ2	c.532G>C (p.Ala178Pro)
17	g.70175571G=	CA2272996612	KCNJ2	c.532G= (p.Ala178=)
17	g.70175571G>T	CA8738741	KCNJ2	c.532G>T (p.Ala178Ser)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.70175572C>A	CA400860887	KCNJ2	c.533C>A (p.Ala178Glu)
17	g.70175572C>G	CA400860889	KCNJ2	c.533C>G (p.Ala178Gly)
17	g.70175572C>T	CA400860891	KCNJ2	c.533C>T (p.Ala178Val)
17	g.70175573A>C	CA501700812	KCNJ2	c.534A>C (p.Ala178=)
17	g.70175573A>G	CA501700814	KCNJ2	c.534A>G (p.Ala178=)
17	g.70175573A>T	CA501700816	KCNJ2	c.534A>T (p.Ala178=)
17	g.70175574G>A	CA8738742	KCNJ2	c.535G>A (p.Val179Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.70175574G>C	CA400860895	KCNJ2	c.535G>C (p.Val179Leu)
17	g.70175574G=	CA2272996613	KCNJ2	c.535G= (p.Val179=)
17	g.70175574G>T	CA400860897	KCNJ2	c.535G>T (p.Val179Phe)	gnomAD v4 COSMIC
17	g.70175575T>A	CA400860898	KCNJ2	c.536T>A (p.Val179Asp)
17	g.70175575T>C	CA400860900	KCNJ2	c.536T>C (p.Val179Ala)
17	g.70175575T>G	CA400860902	KCNJ2	c.536T>G (p.Val179Gly)
17	g.70175576C>A	CA501700818	KCNJ2	c.537C>A (p.Val179=)	COSMIC
17	g.70175576C>G	CA501700819	KCNJ2	c.537C>G (p.Val179=)
17	g.70175576C>T	CA501700820	KCNJ2	c.537C>T (p.Val179=)
17	g.70175577A>C	CA400860907	KCNJ2	c.538A>C (p.Met180Leu)
17	g.70175577A>G	CA400860904	KCNJ2	c.538A>G (p.Met180Val)	gnomAD v4
17	g.70175577A>T	CA400860906	KCNJ2	c.538A>T (p.Met180Leu)
17	g.70175578T>A	CA400860910	KCNJ2	c.539T>A (p.Met180Lys)
17	g.70175578T>C	CA293702918	KCNJ2	c.539T>C (p.Met180Thr)	dbSNP gnomAD v4
17	g.70175578T>G	CA400860913	KCNJ2	c.539T>G (p.Met180Arg)
17	g.70175578T=	CA2272996614	KCNJ2	c.539T= (p.Met180=)
17	g.70175579G>A	CA400860915	KCNJ2	c.540G>A (p.Met180Ile)	gnomAD v4
17	g.70175579G>C	CA400860917	KCNJ2	c.540G>C (p.Met180Ile)
17	g.70175579G>T	CA400860918	KCNJ2	c.540G>T (p.Met180Ile)	COSMIC
17	g.70175580G>A	CA400860921	KCNJ2	c.541G>A (p.Ala181Thr)
17	g.70175580G>C	CA400860923	KCNJ2	c.541G>C (p.Ala181Pro)
17	g.70175580G>T	CA400860924	KCNJ2	c.541G>T (p.Ala181Ser)
17	g.70175581C>A	CA400860926	KCNJ2	c.542C>A (p.Ala181Asp)
17	g.70175581C>G	CA400860928	KCNJ2	c.542C>G (p.Ala181Gly)
17	g.70175581C>T	CA400860930	KCNJ2	c.542C>T (p.Ala181Val)
17	g.70175582C>A	CA501700494	KCNJ2	c.543C>A (p.Ala181=)

Number of alleles fetched