Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.2496640_2496641del	CA2544183399	TBC1D24	c.492_493del (p.Gly165GlnfsTer12) n.674_675del
16	g.2496641G>A	CA318989	TBC1D24	c.493G>A (p.Gly165Ser) n.675G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2496641G>C	CA394376243	TBC1D24	c.493G>C (p.Gly165Arg) n.675G>C	gnomAD v4
16	g.2496641G=	CA2202259919	TBC1D24	c.493G= (p.Gly165=) n.675G=
16	g.2496641G>T	CA394376245	TBC1D24	c.493G>T (p.Gly165Cys) n.675G>T	ClinVar dbSNP gnomAD v4
16	g.2496642G>A	CA394376247	TBC1D24	c.494G>A (p.Gly165Asp) n.676G>A	dbSNP gnomAD v2 gnomAD v4
16	g.2496642G>C	CA394376248	TBC1D24	c.494G>C (p.Gly165Ala) n.676G>C
16	g.2496642G=	CA2202259920	TBC1D24	c.494G= (p.Gly165=) n.676G=
16	g.2496642G>T	CA394376250	TBC1D24	c.494G>T (p.Gly165Val) n.676G>T	gnomAD v4
16	g.2496642_2496643insTC	CA2529358813	TBC1D24	c.494_495insTC (p.Arg166ProfsTer4) n.676_677insTC
16	g.2496643C>A	CA493366859	TBC1D24	c.495C>A (p.Gly165=) n.677C>A	gnomAD v4
16	g.2496643C=	CA2202259921	TBC1D24	c.495C= (p.Gly165=) n.677C=
16	g.2496643C>G	CA7844013	TBC1D24	c.495C>G (p.Gly165=) n.677C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2496643C>T	CA493366860	TBC1D24	c.495C>T (p.Gly165=) n.677C>T	dbSNP gnomAD v2 gnomAD v4
16	g.2496644A>C	CA493366861	TBC1D24	c.496A>C (p.Arg166=) n.678A>C
16	g.2496644A>G	CA394376254	TBC1D24	c.496A>G (p.Arg166Gly) n.678A>G
16	g.2496644A>T	CA394376256	TBC1D24	c.496A>T (p.Arg166Trp) n.678A>T
16	g.2496644dup	CA2202259922	TBC1D24	c.496dup (p.Arg166LysfsTer12) n.678dup	dbSNP
16	g.2496645G>A	CA394376259	TBC1D24	c.497G>A (p.Arg166Lys) n.679G>A
16	g.2496645G>C	CA394376261	TBC1D24	c.497G>C (p.Arg166Thr) n.679G>C
16	g.2496645G>T	CA394376263	TBC1D24	c.497G>T (p.Arg166Met) n.679G>T
16	g.2496646G>A	CA276809627	TBC1D24	c.498G>A (p.Arg166=) n.680G>A	dbSNP
16	g.2496646G>C	CA394376265	TBC1D24	c.498G>C (p.Arg166Ser) n.680G>C
16	g.2496646G=	CA2202259923	TBC1D24	c.498G= (p.Arg166=) n.680G=
16	g.2496646G>T	CA394376267	TBC1D24	c.498G>T (p.Arg166Ser) n.680G>T
16	g.2496647A=	CA2202259924	TBC1D24	c.499A= (p.Arg167=) n.681A=
16	g.2496647A>C	CA7844014	TBC1D24	c.499A>C (p.Arg167=) n.681A>C	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2496647A>G	CA394376270	TBC1D24	c.499A>G (p.Arg167Gly) n.681A>G
16	g.2496647A>T	CA394376272	TBC1D24	c.499A>T (p.Arg167Trp) n.681A>T	dbSNP
16	g.2496648G>A	CA394376273	TBC1D24	c.500G>A (p.Arg167Lys) n.682G>A
16	g.2496648G>C	CA394376274	TBC1D24	c.500G>C (p.Arg167Thr) n.682G>C	dbSNP gnomAD v3 gnomAD v4
16	g.2496648G=	CA2202259925	TBC1D24	c.500G= (p.Arg167=) n.682G=
16	g.2496648G>T	CA394376275	TBC1D24	c.500G>T (p.Arg167Met) n.682G>T
16	g.2496649G>A	CA493366867	TBC1D24	c.501G>A (p.Arg167=) n.683G>A	dbSNP gnomAD v2
16	g.2496649G>C	CA394376279	TBC1D24	c.501G>C (p.Arg167Ser) n.683G>C
16	g.2496649G=	CA2202259926	TBC1D24	c.501G= (p.Arg167=) n.683G=
16	g.2496649G>T	CA394376277	TBC1D24	c.501G>T (p.Arg167Ser) n.683G>T	gnomAD v4
16	g.2496650C>A	CA394376281	TBC1D24	c.502C>A (p.Leu168Met) n.684C>A
16	g.2496650C>G	CA394376283	TBC1D24	c.502C>G (p.Leu168Val) n.684C>G
16	g.2496650C>T	CA493366869	TBC1D24	c.502C>T (p.Leu168=) n.684C>T
16	g.2496651T>A	CA394376285	TBC1D24	c.503T>A (p.Leu168Gln) n.685T>A
16	g.2496651T>C	CA7844015	TBC1D24	c.503T>C (p.Leu168Pro) n.685T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2496651T>G	CA394376287	TBC1D24	c.503T>G (p.Leu168Arg) n.685T>G
16	g.2496651T=	CA2202259927	TBC1D24	c.503T= (p.Leu168=) n.685T=
16	g.2496652G>A	CA493366873	TBC1D24	c.504G>A (p.Leu168=) n.686G>A
16	g.2496652G>C	CA493366876	TBC1D24	c.504G>C (p.Leu168=) n.686G>C
16	g.2496652G>T	CA493366878	TBC1D24	c.504G>T (p.Leu168=) n.686G>T	gnomAD v4
16	g.2496653A=	CA2202259928	TBC1D24	c.505A= (p.Ile169=) n.687A=
16	g.2496653A>C	CA394376292	TBC1D24	c.505A>C (p.Ile169Leu) n.687A>C
16	g.2496653A>G	CA394376294	TBC1D24	c.505A>G (p.Ile169Val) n.687A>G	COSMIC

Number of alleles fetched