Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.2496681C>A	CA394376433	TBC1D24	c.533C>A (p.Ser178Ter) n.715C>A	gnomAD v4
16	g.2496681C=	CA2202259937	TBC1D24	c.533C= (p.Ser178=) n.715C=
16	g.2496681C>G	CA394376435	TBC1D24	c.533C>G (p.Ser178Trp) n.715C>G	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.2496681C>T	CA156356	TBC1D24	c.533C>T (p.Ser178Leu) n.715C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2496682G>A	CA7844019	TBC1D24	c.534G>A (p.Ser178=) n.716G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2496682G>C	CA493366950	TBC1D24	c.534G>C (p.Ser178=) n.716G>C
16	g.2496682G=	CA2202259938	TBC1D24	c.534G= (p.Ser178=) n.716G=
16	g.2496682G>T	CA493366951	TBC1D24	c.534G>T (p.Ser178=) n.716G>T
16	g.2496683T>A	CA394376443	TBC1D24	c.535T>A (p.Ser179Thr) n.717T>A
16	g.2496683T>C	CA394376442	TBC1D24	c.535T>C (p.Ser179Pro) n.717T>C
16	g.2496683T>G	CA394376440	TBC1D24	c.535T>G (p.Ser179Ala) n.717T>G
16	g.2496683dup	CA2573152002	TBC1D24	c.535dup (p.Ser179PhefsTer?) n.717dup	ClinVar dbSNP
16	g.2496684C>A	CA394376445	TBC1D24	c.536C>A (p.Ser179Tyr) n.718C>A
16	g.2496684C>G	CA394376447	TBC1D24	c.536C>G (p.Ser179Cys) n.718C>G
16	g.2496684C>T	CA394376449	TBC1D24	c.536C>T (p.Ser179Phe) n.718C>T	gnomAD v4
16	g.2496685C>A	CA493366957	TBC1D24	c.537C>A (p.Ser179=) n.719C>A
16	g.2496685C>G	CA493366958	TBC1D24	c.537C>G (p.Ser179=) n.719C>G
16	g.2496685C>T	CA493366959	TBC1D24	c.537C>T (p.Ser179=) n.719C>T
16	g.2496686T>A	CA394376451	TBC1D24	c.538T>A (p.Cys180Ser) n.720T>A
16	g.2496686T>C	CA394376453	TBC1D24	c.538T>C (p.Cys180Arg) n.720T>C	ClinVar
16	g.2496686T>G	CA394376455	TBC1D24	c.538T>G (p.Cys180Gly) n.720T>G
16	g.2496686_2496687delinsTG	CA2202259939	TBC1D24	c.538_539delinsTG (p.Cys180=) n.720_721delinsTG
16	g.2496687del	CA7844020	TBC1D24	c.539del (p.Cys180SerfsTer2) n.721del	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2496687G>A	CA394376458	TBC1D24	c.539G>A (p.Cys180Tyr) n.721G>A	dbSNP gnomAD v2
16	g.2496687G>C	CA394376460	TBC1D24	c.539G>C (p.Cys180Ser) n.721G>C
16	g.2496687G=	CA2202259940	TBC1D24	c.539G= (p.Cys180=) n.721G=
16	g.2496687G>T	CA394376462	TBC1D24	c.539G>T (p.Cys180Phe) n.721G>T
16	g.2496688C>A	CA394376465	TBC1D24	c.540C>A (p.Cys180Ter) n.722C>A	ClinVar gnomAD v4
16	g.2496688C>G	CA394376467	TBC1D24	c.540C>G (p.Cys180Trp) n.722C>G
16	g.2496688C>T	CA493366965	TBC1D24	c.540C>T (p.Cys180=) n.722C>T
16	g.2496689A=	CA2202259941	TBC1D24	c.541A= (p.Met181=) n.723A=
16	g.2496689A>C	CA394376473	TBC1D24	c.541A>C (p.Met181Leu) n.723A>C
16	g.2496689A>G	CA394376471	TBC1D24	c.541A>G (p.Met181Val) n.723A>G	ClinVar
16	g.2496689A>T	CA394376470	TBC1D24	c.541A>T (p.Met181Leu) n.723A>T	dbSNP gnomAD v4
16	g.2496690T>A	CA394376474	TBC1D24	c.542T>A (p.Met181Lys) n.724T>A
16	g.2496690T>C	CA394376475	TBC1D24	c.542T>C (p.Met181Thr) n.724T>C
16	g.2496690T>G	CA394376476	TBC1D24	c.542T>G (p.Met181Arg) n.724T>G
16	g.2496691G>A	CA394376479	TBC1D24	c.543G>A (p.Met181Ile) n.725G>A
16	g.2496691G>C	CA394376481	TBC1D24	c.543G>C (p.Met181Ile) n.725G>C
16	g.2496691G>T	CA394376483	TBC1D24	c.543G>T (p.Met181Ile) n.725G>T
16	g.2496692A>C	CA394376487	TBC1D24	c.544A>C (p.Thr182Pro) n.726A>C
16	g.2496692A>G	CA394376484	TBC1D24	c.544A>G (p.Thr182Ala) n.726A>G
16	g.2496692A>T	CA394376486	TBC1D24	c.544A>T (p.Thr182Ser) n.726A>T
16	g.2496692_2496693delinsAC	CA2202259942	TBC1D24	c.544_545delinsAC (p.Thr182=) n.726_727delinsAC
16	g.2496693del	CA620709063	TBC1D24	c.545del (p.Thr182SerfsTer6) n.727del	dbSNP gnomAD v2 gnomAD v4
16	g.2496693C>A	CA394376489	TBC1D24	c.545C>A (p.Thr182Lys) n.727C>A
16	g.2496693C=	CA2202259943	TBC1D24	c.545C= (p.Thr182=) n.727C=
16	g.2496693C>G	CA394376491	TBC1D24	c.545C>G (p.Thr182Arg) n.727C>G
16	g.2496693C>T	CA7844021	TBC1D24	c.545C>T (p.Thr182Met) n.727C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2496694G>A	CA7844022	TBC1D24	c.546G>A (p.Thr182=) n.728G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched