Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.197705407_197707188dup	CA645372705	MARS2	c.2_1dup (n.2_1dup)	ClinVar
2	g.197706399C>A	CA350213543	MARS2	c.994C>A (p.Pro332Thr)
2	g.197706399C>G	CA350213542	MARS2	c.994C>G (p.Pro332Ala)
2	g.197706399C>T	CA350213544	MARS2	c.994C>T (p.Pro332Ser)
2	g.197706400C>A	CA350213545	MARS2	c.995C>A (p.Pro332Gln)
2	g.197706400C>G	CA350213546	MARS2	c.995C>G (p.Pro332Arg)
2	g.197706400C>T	CA350213547	MARS2	c.995C>T (p.Pro332Leu)
2	g.197706401A>C	CA430823642	MARS2	c.996A>C (p.Pro332=)
2	g.197706401A>G	CA430823644	MARS2	c.996A>G (p.Pro332=)
2	g.197706401A>T	CA430823645	MARS2	c.996A>T (p.Pro332=)
2	g.197706402C>A	CA350213548	MARS2	c.997C>A (p.Gln333Lys)
2	g.197706402C=	CA1319360354	MARS2	c.997C= (p.Gln333=)
2	g.197706402C>G	CA350213549	MARS2	c.997C>G (p.Gln333Glu)	dbSNP
2	g.197706402C>T	CA62878812	MARS2	c.997C>T (p.Gln333Ter)	dbSNP
2	g.197706403A>C	CA350213552	MARS2	c.998A>C (p.Gln333Pro)
2	g.197706403A>G	CA350213550	MARS2	c.998A>G (p.Gln333Arg)	gnomAD v4
2	g.197706403A>T	CA350213551	MARS2	c.998A>T (p.Gln333Leu)
2	g.197706404G>A	CA430823653	MARS2	c.999G>A (p.Gln333=)
2	g.197706404G>C	CA350213553	MARS2	c.999G>C (p.Gln333His)
2	g.197706404G>T	CA350213554	MARS2	c.999G>T (p.Gln333His)
2	g.197706405C>A	CA350213555	MARS2	c.1000C>A (p.Arg334Ser)
2	g.197706405C=	CA1319360359	MARS2	c.1000C= (p.Arg334=)
2	g.197706405C>G	CA350213556	MARS2	c.1000C>G (p.Arg334Gly)
2	g.197706405C>T	CA350213557	MARS2	c.1000C>T (p.Arg334Cys)	dbSNP gnomAD v4
2	g.197706406G>A	CA2044673	MARS2	c.1001G>A (p.Arg334His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.197706406G>C	CA350213559	MARS2	c.1001G>C (p.Arg334Pro)
2	g.197706406G=	CA1319360361	MARS2	c.1001G= (p.Arg334=)
2	g.197706406G>T	CA350213558	MARS2	c.1001G>T (p.Arg334Leu)
2	g.197706407C>A	CA430823670	MARS2	c.1002C>A (p.Arg334=)
2	g.197706407C>G	CA430823667	MARS2	c.1002C>G (p.Arg334=)
2	g.197706407C>T	CA430823668	MARS2	c.1002C>T (p.Arg334=)
2	g.197706408A>C	CA350213560	MARS2	c.1003A>C (p.Ile335Leu)
2	g.197706408A>G	CA350213561	MARS2	c.1003A>G (p.Ile335Val)	gnomAD v4
2	g.197706408A>T	CA350213562	MARS2	c.1003A>T (p.Ile335Phe)
2	g.197706409T>A	CA350213563	MARS2	c.1004T>A (p.Ile335Asn)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.197706409T>C	CA350213564	MARS2	c.1004T>C (p.Ile335Thr)
2	g.197706409T>G	CA350213565	MARS2	c.1004T>G (p.Ile335Ser)
2	g.197706409T=	CA1319360365	MARS2	c.1004T= (p.Ile335=)
2	g.197706410C>A	CA430823676	MARS2	c.1005C>A (p.Ile335=)
2	g.197706410C>G	CA350213566	MARS2	c.1005C>G (p.Ile335Met)
2	g.197706410C>T	CA430823677	MARS2	c.1005C>T (p.Ile335=)	gnomAD v4
2	g.197706411T>A	CA350213567	MARS2	c.1006T>A (p.Cys336Ser)
2	g.197706411T>C	CA350213568	MARS2	c.1006T>C (p.Cys336Arg)
2	g.197706411T>G	CA350213569	MARS2	c.1006T>G (p.Cys336Gly)
2	g.197706412G>A	CA350213572	MARS2	c.1007G>A (p.Cys336Tyr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.197706412G>C	CA350213571	MARS2	c.1007G>C (p.Cys336Ser)
2	g.197706412G=	CA1319360368	MARS2	c.1007G= (p.Cys336=)
2	g.197706412G>T	CA350213570	MARS2	c.1007G>T (p.Cys336Phe)
2	g.197706413T>A	CA350213573	MARS2	c.1008T>A (p.Cys336Ter)
2	g.197706413T>C	CA430823685	MARS2	c.1008T>C (p.Cys336=)

Number of alleles fetched