Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.120736993_120736995del	CA916083337	ACADS	c.218_220del (p.Lys73del) n.330_332del	ClinVar dbSNP 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
12	g.120736999del	CA2580085886	ACADS	c.224del (p.Gly75AlafsTer?) n.336del	ClinVar
12	g.120736998G>A	CA386613949	ACADS	c.223G>A (p.Gly75Ser) n.335G>A
12	g.120736998G>C	CA386613951	ACADS	c.223G>C (p.Gly75Arg) n.335G>C
12	g.120736998G>T	CA386613950	ACADS	c.223G>T (p.Gly75Cys) n.335G>T
12	g.120736999G>A	CA386613952	ACADS	c.224G>A (p.Gly75Asp) n.336G>A
12	g.120736999G>C	CA386613953	ACADS	c.224G>C (p.Gly75Ala) n.336G>C
12	g.120736999G>T	CA386613954	ACADS	c.224G>T (p.Gly75Val) n.336G>T	gnomAD v4 COSMIC
12	g.120737000C>A	CA482107208	ACADS	c.225C>A (p.Gly75=) n.337C>A	gnomAD v4
12	g.120737000C=	CA2067553136	ACADS	c.225C= (p.Gly75=) n.337C=
12	g.120737000C>G	CA482107210	ACADS	c.225C>G (p.Gly75=) n.337C>G
12	g.120737000C>T	CA6830798	ACADS	c.225C>T (p.Gly75=) n.337C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.120737001G>A	CA6830799	ACADS	c.226G>A (p.Gly76Arg) n.338G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.120737001G>C	CA386613955	ACADS	c.226G>C (p.Gly76Arg) n.338G>C
12	g.120737001G=	CA2067553138	ACADS	c.226G= (p.Gly76=) n.338G=
12	g.120737001G>T	CA386613956	ACADS	c.226G>T (p.Gly76Trp) n.338G>T	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.120737002G>A	CA386613957	ACADS	c.227G>A (p.Gly76Glu) n.339G>A
12	g.120737002G>C	CA386613958	ACADS	c.227G>C (p.Gly76Ala) n.339G>C
12	g.120737002G>T	CA386613959	ACADS	c.227G>T (p.Gly76Val) n.339G>T
12	g.120737003G>A	CA6830800	ACADS	c.228G>A (p.Gly76=) n.340G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.120737003G>C	CA482107225	ACADS	c.228G>C (p.Gly76=) n.340G>C
12	g.120737003G=	CA2067553140	ACADS	c.228G= (p.Gly76=) n.340G=
12	g.120737003G>T	CA482107222	ACADS	c.228G>T (p.Gly76=) n.340G>T	gnomAD v4
12	g.120737004C>A	CA386613962	ACADS	c.229C>A (p.Leu77Ile) n.341C>A
12	g.120737004C=	CA2067553142	ACADS	c.229C= (p.Leu77=) n.341C=
12	g.120737004C>G	CA386613961	ACADS	c.229C>G (p.Leu77Val) n.341C>G
12	g.120737004C>T	CA386613960	ACADS	c.229C>T (p.Leu77Phe) n.341C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.120737005T>A	CA386613964	ACADS	c.230T>A (p.Leu77His) n.342T>A
12	g.120737005T>C	CA386613963	ACADS	c.230T>C (p.Leu77Pro) n.342T>C
12	g.120737005T>G	CA386613965	ACADS	c.230T>G (p.Leu77Arg) n.342T>G
12	g.120737006T>A	CA482107234	ACADS	c.231T>A (p.Leu77=) n.343T>A
12	g.120737006T>C	CA482107235	ACADS	c.231T>C (p.Leu77=) n.343T>C	gnomAD v4
12	g.120737006T>G	CA482107237	ACADS	c.231T>G (p.Leu77=) n.343T>G
12	g.120737007G>A	CA386613966	ACADS	c.232G>A (p.Gly78Arg) n.344G>A
12	g.120737007G>C	CA6830801	ACADS	c.232G>C (p.Gly78Arg) n.344G>C	dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched