Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.2496581A>C	CA394375977	TBC1D24	c.433A>C (p.Ser145Arg) n.615A>C
16	g.2496581A>G	CA394375978	TBC1D24	c.433A>G (p.Ser145Gly) n.615A>G
16	g.2496581A>T	CA394375980	TBC1D24	c.433A>T (p.Ser145Cys) n.615A>T
16	g.2496582G>A	CA394375983	TBC1D24	c.434G>A (p.Ser145Asn) n.616G>A	ClinVar dbSNP gnomAD v4
16	g.2496582G>C	CA394375986	TBC1D24	c.434G>C (p.Ser145Thr) n.616G>C
16	g.2496582G>T	CA394375984	TBC1D24	c.434G>T (p.Ser145Ile) n.616G>T	gnomAD v4
16	g.2496583C>A	CA394375987	TBC1D24	c.435C>A (p.Ser145Arg) n.617C>A
16	g.2496583C>G	CA394375989	TBC1D24	c.435C>G (p.Ser145Arg) n.617C>G
16	g.2496583C>T	CA493366699	TBC1D24	c.435C>T (p.Ser145=) n.617C>T	gnomAD v4
16	g.2496584A=	CA2202259880	TBC1D24	c.436A= (p.Ile146=) n.618A=
16	g.2496584A>C	CA394375991	TBC1D24	c.436A>C (p.Ile146Leu) n.618A>C
16	g.2496584A>G	CA394375992	TBC1D24	c.436A>G (p.Ile146Val) n.618A>G	dbSNP gnomAD v3 gnomAD v4
16	g.2496584A>T	CA394375994	TBC1D24	c.436A>T (p.Ile146Phe) n.618A>T
16	g.2496585T>A	CA394375995	TBC1D24	c.437T>A (p.Ile146Asn) n.619T>A
16	g.2496585T>C	CA394375997	TBC1D24	c.437T>C (p.Ile146Thr) n.619T>C
16	g.2496585T>G	CA394375998	TBC1D24	c.437T>G (p.Ile146Ser) n.619T>G
16	g.2496589_2496606del	CA2631209959	TBC1D24	c.441_458del (p.Asp147_Phe152del) n.623_640del	gnomAD v4
16	g.2496586C>A	CA493366702	TBC1D24	c.438C>A (p.Ile146=) n.620C>A	gnomAD v4
16	g.2496586C=	CA2202259881	TBC1D24	c.438C= (p.Ile146=) n.620C=
16	g.2496586C>G	CA394376000	TBC1D24	c.438C>G (p.Ile146Met) n.620C>G
16	g.2496586C>T	CA7843999	TBC1D24	c.438C>T (p.Ile146=) n.620C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2496587G>A	CA7844000	TBC1D24	c.439G>A (p.Asp147Asn) n.621G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2496587G>C	CA339785	TBC1D24	c.439G>C (p.Asp147His) n.621G>C	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.2496587G=	CA2202259882	TBC1D24	c.439G= (p.Asp147=) n.621G=
16	g.2496587G>T	CA394376002	TBC1D24	c.439G>T (p.Asp147Tyr) n.621G>T	gnomAD v4
16	g.2496588A=	CA2202259883	TBC1D24	c.440A= (p.Asp147=) n.622A=
16	g.2496588A>C	CA394376007	TBC1D24	c.440A>C (p.Asp147Ala) n.622A>C
16	g.2496588A>G	CA7844001	TBC1D24	c.440A>G (p.Asp147Gly) n.622A>G	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2496588A>T	CA394376010	TBC1D24	c.440A>T (p.Asp147Val) n.622A>T
16	g.2496589C>A	CA394376012	TBC1D24	c.441C>A (p.Asp147Glu) n.623C>A
16	g.2496589C=	CA2202259884	TBC1D24	c.441C= (p.Asp147=) n.623C=
16	g.2496589C>G	CA394376014	TBC1D24	c.441C>G (p.Asp147Glu) n.623C>G	dbSNP gnomAD v4
16	g.2496589C>T	CA302805	TBC1D24	c.441C>T (p.Asp147=) n.623C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.2496590G>A	CA7844002	TBC1D24	c.442G>A (p.Glu148Lys) n.624G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2496590G>C	CA394376018	TBC1D24	c.442G>C (p.Glu148Gln) n.624G>C
16	g.2496590G=	CA2202259885	TBC1D24	c.442G= (p.Glu148=) n.624G=
16	g.2496590G>T	CA7844003	TBC1D24	c.442G>T (p.Glu148Ter) n.624G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2496591A>C	CA394376020	TBC1D24	c.443A>C (p.Glu148Ala) n.625A>C
16	g.2496591A>G	CA394376023	TBC1D24	c.443A>G (p.Glu148Gly) n.625A>G
16	g.2496591A>T	CA394376025	TBC1D24	c.443A>T (p.Glu148Val) n.625A>T
16	g.2496592G>A	CA7844004	TBC1D24	c.444G>A (p.Glu148=) n.626G>A	dbSNP ExAC gnomAD v2
16	g.2496592G>C	CA394376028	TBC1D24	c.444G>C (p.Glu148Asp) n.626G>C
16	g.2496592G=	CA2202259886	TBC1D24	c.444G= (p.Glu148=) n.626G=
16	g.2496592G>T	CA394376026	TBC1D24	c.444G>T (p.Glu148Asp) n.626G>T
16	g.2496593G>A	CA394376031	TBC1D24	c.445G>A (p.Ala149Thr) n.627G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.2496593G>C	CA394376033	TBC1D24	c.445G>C (p.Ala149Pro) n.627G>C
16	g.2496593G=	CA2202259887	TBC1D24	c.445G= (p.Ala149=) n.627G=
16	g.2496593G>T	CA394376035	TBC1D24	c.445G>T (p.Ala149Ser) n.627G>T	gnomAD v4
16	g.2496594C>A	CA394376036	TBC1D24	c.446C>A (p.Ala149Asp) n.628C>A	dbSNP gnomAD v4
16	g.2496594C=	CA2202259888	TBC1D24	c.446C= (p.Ala149=) n.628C=

Number of alleles fetched