Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.120736985G>A	CA16041564	ACADS	c.211-1G>A (n.211-1G>A) n.323-1G>A	ClinVar dbSNP
12	g.120736985G>C	CA386613919	ACADS	c.211-1G>C (n.211-1G>C) n.323-1G>C
12	g.120736985G=	CA2067553116	ACADS	c.211-1G= (n.211-1G=) n.323-1G=
12	g.120736985G>T	CA386613920	ACADS	c.211-1G>T (n.211-1G>T) n.323-1G>T	gnomAD v4
12	g.120736986G>A	CA386613923	ACADS	c.211G>A (p.Val71Met) n.323G>A	dbSNP
12	g.120736986G>C	CA386613921	ACADS	c.211G>C (p.Val71Leu) n.323G>C
12	g.120736986G=	CA2067553118	ACADS	c.211G= (p.Val71=) n.323G=
12	g.120736986G>T	CA386613922	ACADS	c.211G>T (p.Val71Leu) n.323G>T	gnomAD v4
12	g.120736987T>A	CA386613924	ACADS	c.212T>A (p.Val71Glu) n.324T>A
12	g.120736987T>C	CA386613925	ACADS	c.212T>C (p.Val71Ala) n.324T>C	COSMIC
12	g.120736987T>G	CA386613926	ACADS	c.212T>G (p.Val71Gly) n.324T>G
12	g.120736987_120736990delinsTGAA	CA2067553120	ACADS	c.212_215delinsTGAA (p.Val71=) n.324_327delinsTGAA
12	g.120736988G>A	CA482107166	ACADS	c.213G>A (p.Val71=) n.325G>A
12	g.120736988G>C	CA482107163	ACADS	c.213G>C (p.Val71=) n.325G>C
12	g.120736988G>T	CA482107161	ACADS	c.213G>T (p.Val71=) n.325G>T	gnomAD v4
12	g.120736993_120736995del	CA916083337	ACADS	c.218_220del (p.Lys73del) n.330_332del	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.120736989A>C	CA386613927	ACADS	c.214A>C (p.Lys72Gln) n.326A>C
12	g.120736989A>G	CA386613928	ACADS	c.214A>G (p.Lys72Glu) n.326A>G
12	g.120736989A>T	CA386613929	ACADS	c.214A>T (p.Lys72Ter) n.326A>T
12	g.120736990del	CA2621365861	ACADS	c.215del (p.Lys72ArgfsTer?) n.327del	gnomAD v4
12	g.120736990A=	CA2067553123	ACADS	c.215A= (p.Lys72=) n.327A=
12	g.120736990A>C	CA386613930	ACADS	c.215A>C (p.Lys72Thr) n.327A>C
12	g.120736990A>G	CA6830795	ACADS	c.215A>G (p.Lys72Arg) n.327A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.120736990A>T	CA386613931	ACADS	c.215A>T (p.Lys72Met) n.327A>T
12	g.120736991G>A	CA482107175	ACADS	c.216G>A (p.Lys72=) n.328G>A
12	g.120736991G>C	CA386613932	ACADS	c.216G>C (p.Lys72Asn) n.328G>C	dbSNP gnomAD v2 gnomAD v4
12	g.120736991G=	CA2067553125	ACADS	c.216G= (p.Lys72=) n.328G=
12	g.120736991G>T	CA386613933	ACADS	c.216G>T (p.Lys72Asn) n.328G>T	gnomAD v4
12	g.120736992A>C	CA386613936	ACADS	c.217A>C (p.Lys73Gln) n.329A>C
12	g.120736992A>G	CA386613935	ACADS	c.217A>G (p.Lys73Glu) n.329A>G
12	g.120736992A>T	CA386613934	ACADS	c.217A>T (p.Lys73Ter) n.329A>T
12	g.120736993A=	CA2067553127	ACADS	c.218A= (p.Lys73=) n.330A=
12	g.120736993A>C	CA386613937	ACADS	c.218A>C (p.Lys73Thr) n.330A>C
12	g.120736993A>G	CA386613938	ACADS	c.218A>G (p.Lys73Arg) n.330A>G
12	g.120736993A>T	CA6830796	ACADS	c.218A>T (p.Lys73Met) n.330A>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.120736994G>A	CA482107186	ACADS	c.219G>A (p.Lys73=) n.331G>A
12	g.120736994G>C	CA386613939	ACADS	c.219G>C (p.Lys73Asn) n.331G>C
12	g.120736994G=	CA2067553129	ACADS	c.219G= (p.Lys73=) n.331G=
12	g.120736994G>T	CA386613940	ACADS	c.219G>T (p.Lys73Asn) n.331G>T	gnomAD v4
12	g.120736995A>C	CA386613943	ACADS	c.220A>C (p.Met74Leu) n.332A>C
12	g.120736995A>G	CA386613942	ACADS	c.220A>G (p.Met74Val) n.332A>G
12	g.120736995A>T	CA386613941	ACADS	c.220A>T (p.Met74Leu) n.332A>T
12	g.120736996_120736997insCCAT	CA607880674	ACADS	c.221_222insCCAT (p.Met74IlefsTer?) n.333_334insCCAT	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.120736996T>A	CA6830797	ACADS	c.221T>A (p.Met74Lys) n.333T>A	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.120736996T>C	CA386613944	ACADS	c.221T>C (p.Met74Thr) n.333T>C
12	g.120736996T>G	CA386613945	ACADS	c.221T>G (p.Met74Arg) n.333T>G
12	g.120736996T=	CA2067553134	ACADS	c.221T= (p.Met74=) n.333T=
12	g.120736997G>A	CA386613946	ACADS	c.222G>A (p.Met74Ile) n.334G>A	ClinVar
12	g.120736997G>C	CA386613947	ACADS	c.222G>C (p.Met74Ile) n.334G>C	gnomAD v4
12	g.120736997G>T	CA386613948	ACADS	c.222G>T (p.Met74Ile) n.334G>T	gnomAD v4

Number of alleles fetched