Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.197705407_197707188dup	CA645372705	MARS2	c.2_1dup (n.2_1dup)	ClinVar
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=)
2	g.197706413T>G	CA350213574	MARS2	c.1008T>G (p.Cys336Trp)
2	g.197706414G>A	CA350213575	MARS2	c.1009G>A (p.Val337Ile)
2	g.197706414G>C	CA350213576	MARS2	c.1009G>C (p.Val337Leu)	dbSNP gnomAD v4
2	g.197706414G=	CA1319360370	MARS2	c.1009G= (p.Val337=)
2	g.197706414G>T	CA350213577	MARS2	c.1009G>T (p.Val337Phe)
2	g.197706415T>A	CA350213578	MARS2	c.1010T>A (p.Val337Asp)
2	g.197706415T>C	CA350213579	MARS2	c.1010T>C (p.Val337Ala)
2	g.197706415T>G	CA350213580	MARS2	c.1010T>G (p.Val337Gly)
2	g.197706416C>A	CA430823693	MARS2	c.1011C>A (p.Val337=)
2	g.197706416C=	CA1319360373	MARS2	c.1011C= (p.Val337=)
2	g.197706416C>G	CA430823694	MARS2	c.1011C>G (p.Val337=)
2	g.197706416C>T	CA2044674	MARS2	c.1011C>T (p.Val337=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.197706417C>A	CA350213581	MARS2	c.1012C>A (p.His338Asn)
2	g.197706417C>G	CA350213582	MARS2	c.1012C>G (p.His338Asp)
2	g.197706417C>T	CA350213583	MARS2	c.1012C>T (p.His338Tyr)
2	g.197706418A=	CA1319360377	MARS2	c.1013A= (p.His338=)
2	g.197706418A>C	CA350213585	MARS2	c.1013A>C (p.His338Pro)
2	g.197706418A>G	CA2044675	MARS2	c.1013A>G (p.His338Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.197706418A>T	CA350213584	MARS2	c.1013A>T (p.His338Leu)
2	g.197706419T>A	CA350213586	MARS2	c.1014T>A (p.His338Gln)
2	g.197706419T>C	CA430823701	MARS2	c.1014T>C (p.His338=)	gnomAD v4
2	g.197706419T>G	CA350213587	MARS2	c.1014T>G (p.His338Gln)
2	g.197706420T>A	CA350213588	MARS2	c.1015T>A (p.Ser339Thr)
2	g.197706420T>C	CA350213589	MARS2	c.1015T>C (p.Ser339Pro)
2	g.197706420T>G	CA350213590	MARS2	c.1015T>G (p.Ser339Ala)
2	g.197706421_197706426del	CA2662524354	MARS2	c.1016_1021del (p.Ser339_His340del)	gnomAD v4
2	g.197706421C>A	CA2044676	MARS2	c.1016C>A (p.Ser339Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.197706421C=	CA1319360380	MARS2	c.1016C= (p.Ser339=)
2	g.197706421C>G	CA350213591	MARS2	c.1016C>G (p.Ser339Cys)
2	g.197706421C>T	CA350213592	MARS2	c.1016C>T (p.Ser339Phe)
2	g.197706422C>A	CA430823702	MARS2	c.1017C>A (p.Ser339=)
2	g.197706422C>G	CA430823703	MARS2	c.1017C>G (p.Ser339=)
2	g.197706422C>T	CA430823705	MARS2	c.1017C>T (p.Ser339=)
2	g.197706423C>A	CA350213593	MARS2	c.1018C>A (p.His340Asn)
2	g.197706423C>G	CA350213594	MARS2	c.1018C>G (p.His340Asp)
2	g.197706423C>T	CA350213595	MARS2	c.1018C>T (p.His340Tyr)
2	g.197706424A=	CA1319360383	MARS2	c.1019A= (p.His340=)

Number of alleles fetched