Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.219418499_219419548del	CA1139655693	DES	c.37_578+508del c.37_495+591del	ClinVar
2	g.219418883A>C	CA350686039	DES	c.421A>C (p.Asn141His)
2	g.219418883A>G	CA350686045	DES	c.421A>G (p.Asn141Asp)
2	g.219418883A>T	CA350686041	DES	c.421A>T (p.Asn141Tyr)
2	g.219418884A>C	CA350686048	DES	c.422A>C (p.Asn141Thr)
2	g.219418884A>G	CA350686050	DES	c.422A>G (p.Asn141Ser)
2	g.219418884A>T	CA350686053	DES	c.422A>T (p.Asn141Ile)
2	g.219418885C>A	CA350686055	DES	c.423C>A (p.Asn141Lys)	gnomAD v4
2	g.219418885C=	CA1329210060	DES	c.423C= (p.Asn141=)
2	g.219418885C>G	CA350686059	DES	c.423C>G (p.Asn141Lys)	dbSNP
2	g.219418885C>T	CA431427741	DES	c.423C>T (p.Asn141=)	ClinVar dbSNP gnomAD v4
2	g.219418886C>A	CA431427744	DES	c.424C>A (p.Arg142=)	dbSNP gnomAD v3 gnomAD v4
2	g.219418886C=	CA1329210061	DES	c.424C= (p.Arg142=)
2	g.219418886C>G	CA350686062	DES	c.424C>G (p.Arg142Gly)	gnomAD v4
2	g.219418886C>T	CA350686066	DES	c.424C>T (p.Arg142Trp)	gnomAD v4
2	g.219418887G>A	CA350686069	DES	c.425G>A (p.Arg142Gln)	dbSNP gnomAD v4
2	g.219418887G>C	CA350686075	DES	c.425G>C (p.Arg142Pro)	ClinVar
2	g.219418887G=	CA1329210062	DES	c.425G= (p.Arg142=)
2	g.219418887G>T	CA350686077	DES	c.425G>T (p.Arg142Leu)	gnomAD v4
2	g.219418888G>A	CA431427756	DES	c.426G>A (p.Arg142=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418888G>C	CA431427757	DES	c.426G>C (p.Arg142=)
2	g.219418888G=	CA1329210063	DES	c.426G= (p.Arg142=)
2	g.219418888G>T	CA431427758	DES	c.426G>T (p.Arg142=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418889C>A	CA350686085	DES	c.427C>A (p.Leu143Ile)	gnomAD v4
2	g.219418889C=	CA1329210064	DES	c.427C= (p.Leu143=)
2	g.219418889C>G	CA350686082	DES	c.427C>G (p.Leu143Val)	ClinVar dbSNP
2	g.219418889C>T	CA350686080	DES	c.427C>T (p.Leu143Phe)	gnomAD v4
2	g.219418890T>A	CA350686087	DES	c.428T>A (p.Leu143His)
2	g.219418890T>C	CA350686089	DES	c.428T>C (p.Leu143Pro)	ClinVar dbSNP
2	g.219418890T>G	CA350686092	DES	c.428T>G (p.Leu143Arg)	ClinVar
2	g.219418890T=	CA1329210065	DES	c.428T= (p.Leu143=)
2	g.219418891C>A	CA431427762	DES	c.429C>A (p.Leu143=)
2	g.219418891C=	CA1329210066	DES	c.429C= (p.Leu143=)
2	g.219418891C>G	CA431427763	DES	c.429C>G (p.Leu143=)
2	g.219418891C>T	CA65981248	DES	c.429C>T (p.Leu143=)	ClinVar dbSNP gnomAD v4
2	g.219418892A=	CA1329210067	DES	c.430A= (p.Lys144=)
2	g.219418892A>C	CA350686101	DES	c.430A>C (p.Lys144Gln)
2	g.219418892A>G	CA350686106	DES	c.430A>G (p.Lys144Glu)	gnomAD v4
2	g.219418892A>T	CA350686110	DES	c.430A>T (p.Lys144Ter)	dbSNP
2	g.219418893A>C	CA350686114	DES	c.431A>C (p.Lys144Thr)
2	g.219418893A>G	CA350686117	DES	c.431A>G (p.Lys144Arg)	gnomAD v4
2	g.219418893A>T	CA350686122	DES	c.431A>T (p.Lys144Met)
2	g.219418894G>A	CA431427769	DES	c.432G>A (p.Lys144=)	gnomAD v4
2	g.219418894G>C	CA350686144	DES	c.432G>C (p.Lys144Asn)
2	g.219418894G>T	CA350686147	DES	c.432G>T (p.Lys144Asn)	gnomAD v4
2	g.219418896dup	CA2663250194	DES	c.434dup (p.Arg146ProfsTer26) c.434dup (p.Arg146ProfsTer?)	gnomAD v4
2	g.219418895G>A	CA350686158	DES	c.433G>A (p.Gly145Ser)
2	g.219418895G>C	CA350686160	DES	c.433G>C (p.Gly145Arg)
2	g.219418895G>T	CA350686153	DES	c.433G>T (p.Gly145Cys)
2	g.219418896G>A	CA350686173	DES	c.434G>A (p.Gly145Asp)	ClinVar dbSNP gnomAD v4

Number of alleles fetched