Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.2496376_2496387del	CA2631209326	TBC1D24	c.228_239del (p.Asp76_Lys80delinsGlu) n.410_421del	gnomAD v4
16	g.2496376C>A	CA394375083	TBC1D24	c.228C>A (p.Asp76Glu) n.410C>A
16	g.2496376C=	CA2202259767	TBC1D24	c.228C= (p.Asp76=) n.410C=
16	g.2496376C>G	CA394375084	TBC1D24	c.228C>G (p.Asp76Glu) n.410C>G
16	g.2496376C>T	CA493366595	TBC1D24	c.228C>T (p.Asp76=) n.410C>T	dbSNP gnomAD v2 gnomAD v4
16	g.2496376_2496388delinsCATCGTGGGCAAG	CA2202259766	TBC1D24	c.228_240delinsCATCGTGGGCAAG (p.Asp76=) n.410_422delinsCATCGTGGGCAAG
16	g.2496377A=	CA2202259768	TBC1D24	c.229A= (p.Ile77=) n.411A=
16	g.2496377A>C	CA394375086	TBC1D24	c.229A>C (p.Ile77Leu) n.411A>C
16	g.2496377A>G	CA394375088	TBC1D24	c.229A>G (p.Ile77Val) n.411A>G	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.2496377A>T	CA394375090	TBC1D24	c.229A>T (p.Ile77Phe) n.411A>T	ClinVar
16	g.2496389_2496400dup	CA973806073	TBC1D24	c.241_252dup (p.Lys84_His85insIleValGlyLys) n.423_434dup	dbSNP gnomAD v3 gnomAD v4
16	g.2496389_2496400del	CA7843957	TBC1D24	c.241_252del (p.Ile81_Lys84del) n.423_434del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2496378T>A	CA394375094	TBC1D24	c.230T>A (p.Ile77Asn) n.412T>A
16	g.2496378T>C	CA394375096	TBC1D24	c.230T>C (p.Ile77Thr) n.412T>C	gnomAD v4
16	g.2496378T>G	CA394375098	TBC1D24	c.230T>G (p.Ile77Ser) n.412T>G
16	g.2496379C>A	CA493366596	TBC1D24	c.231C>A (p.Ile77=) n.413C>A	COSMIC
16	g.2496379C=	CA2202259769	TBC1D24	c.231C= (p.Ile77=) n.413C=
16	g.2496379C>G	CA394375100	TBC1D24	c.231C>G (p.Ile77Met) n.413C>G
16	g.2496379C>T	CA7843958	TBC1D24	c.231C>T (p.Ile77=) n.413C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2496380G>A	CA7843959	TBC1D24	c.232G>A (p.Val78Met) n.414G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2496380G>C	CA394375108	TBC1D24	c.232G>C (p.Val78Leu) n.414G>C
16	g.2496380G=	CA2202259770	TBC1D24	c.232G= (p.Val78=) n.414G=
16	g.2496380G>T	CA394375106	TBC1D24	c.232G>T (p.Val78Leu) n.414G>T
16	g.2496381T>A	CA394375111	TBC1D24	c.233T>A (p.Val78Glu) n.415T>A
16	g.2496381T>C	CA394375114	TBC1D24	c.233T>C (p.Val78Ala) n.415T>C
16	g.2496381T>G	CA394375112	TBC1D24	c.233T>G (p.Val78Gly) n.415T>G
16	g.2496382G>A	CA493366602	TBC1D24	c.234G>A (p.Val78=) n.416G>A	gnomAD v4
16	g.2496382G>C	CA493366603	TBC1D24	c.234G>C (p.Val78=) n.416G>C
16	g.2496382G>T	CA493366604	TBC1D24	c.234G>T (p.Val78=) n.416G>T
16	g.2496383G>A	CA394375116	TBC1D24	c.235G>A (p.Gly79Ser) n.417G>A
16	g.2496383G>C	CA394375118	TBC1D24	c.235G>C (p.Gly79Arg) n.417G>C
16	g.2496383G>T	CA394375120	TBC1D24	c.235G>T (p.Gly79Cys) n.417G>T
16	g.2496384G>A	CA394375122	TBC1D24	c.236G>A (p.Gly79Asp) n.418G>A	gnomAD v4
16	g.2496384G>C	CA394375124	TBC1D24	c.236G>C (p.Gly79Ala) n.418G>C	dbSNP gnomAD v3 gnomAD v4
16	g.2496384G=	CA2202259771	TBC1D24	c.236G= (p.Gly79=) n.418G=
16	g.2496384G>T	CA394375126	TBC1D24	c.236G>T (p.Gly79Val) n.418G>T
16	g.2496385C>A	CA493366607	TBC1D24	c.237C>A (p.Gly79=) n.419C>A
16	g.2496385C>G	CA493366608	TBC1D24	c.237C>G (p.Gly79=) n.419C>G
16	g.2496385C>T	CA493366609	TBC1D24	c.237C>T (p.Gly79=) n.419C>T	gnomAD v4
16	g.2496386A>C	CA394375128	TBC1D24	c.238A>C (p.Lys80Gln) n.420A>C
16	g.2496386A>G	CA394375130	TBC1D24	c.238A>G (p.Lys80Glu) n.420A>G
16	g.2496386A>T	CA394375132	TBC1D24	c.238A>T (p.Lys80Ter) n.420A>T
16	g.2496387A>C	CA394375133	TBC1D24	c.239A>C (p.Lys80Thr) n.421A>C
16	g.2496387A>G	CA394375134	TBC1D24	c.239A>G (p.Lys80Arg) n.421A>G
16	g.2496387A>T	CA394375135	TBC1D24	c.239A>T (p.Lys80Met) n.421A>T
16	g.2496388G>A	CA493366611	TBC1D24	c.240G>A (p.Lys80=) n.422G>A
16	g.2496388G>C	CA394375137	TBC1D24	c.240G>C (p.Lys80Asn) n.422G>C	COSMIC
16	g.2496388G>T	CA394375139	TBC1D24	c.240G>T (p.Lys80Asn) n.422G>T
16	g.2496389A>C	CA394375143	TBC1D24	c.241A>C (p.Ile81Leu) n.423A>C
16	g.2496389A>G	CA394375142	TBC1D24	c.241A>G (p.Ile81Val) n.423A>G

Number of alleles fetched