Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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
16	g.2496694G>C	CA493366972	TBC1D24	c.546G>C (p.Thr182=) n.728G>C
16	g.2496694G=	CA2202259944	TBC1D24	c.546G= (p.Thr182=) n.728G=
16	g.2496694G>T	CA7844023	TBC1D24	c.546G>T (p.Thr182=) n.728G>T	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2496695T>A	CA394376496	TBC1D24	c.547T>A (p.Phe183Ile) n.729T>A
16	g.2496695T>C	CA394376499	TBC1D24	c.547T>C (p.Phe183Leu) n.729T>C
16	g.2496695T>G	CA394376497	TBC1D24	c.547T>G (p.Phe183Val) n.729T>G
16	g.2496696T>A	CA394376502	TBC1D24	c.548T>A (p.Phe183Tyr) n.730T>A
16	g.2496696T>C	CA394376503	TBC1D24	c.548T>C (p.Phe183Ser) n.730T>C	gnomAD v4
16	g.2496696T>G	CA394376505	TBC1D24	c.548T>G (p.Phe183Cys) n.730T>G
16	g.2496697T>A	CA394376507	TBC1D24	c.549T>A (p.Phe183Leu) n.731T>A
16	g.2496697T>C	CA493366977	TBC1D24	c.549T>C (p.Phe183=) n.731T>C
16	g.2496697T>G	CA394376509	TBC1D24	c.549T>G (p.Phe183Leu) n.731T>G
16	g.2496698G>A	CA394376512	TBC1D24	c.550G>A (p.Gly184Arg) n.732G>A	dbSNP
16	g.2496698G>C	CA394376514	TBC1D24	c.550G>C (p.Gly184Arg) n.732G>C
16	g.2496698G>T	CA394376516	TBC1D24	c.550G>T (p.Gly184Trp) n.732G>T
16	g.2496699G>A	CA394376519	TBC1D24	c.551G>A (p.Gly184Glu) n.733G>A
16	g.2496699G>C	CA394376520	TBC1D24	c.551G>C (p.Gly184Ala) n.733G>C
16	g.2496699G>T	CA394376523	TBC1D24	c.551G>T (p.Gly184Val) n.733G>T
16	g.2496699_2496705delinsGGGACCT	CA2202259945	TBC1D24	c.551_557delinsGGGACCT (p.Gly184=) n.733_739delinsGGGACCT
16	g.2496700G>A	CA493366980	TBC1D24	c.552G>A (p.Gly184=) n.734G>A	dbSNP gnomAD v2
16	g.2496700G>C	CA493366982	TBC1D24	c.552G>C (p.Gly184=) n.734G>C
16	g.2496700G=	CA2202259946	TBC1D24	c.552G= (p.Gly184=) n.734G=
16	g.2496700G>T	CA493366981	TBC1D24	c.552G>T (p.Gly184=) n.734G>T
16	g.2496702_2496707del	CA620709064	TBC1D24	c.554_559del (p.Asp185_Leu186del) n.736_741del	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.2496701G>A	CA394376525	TBC1D24	c.553G>A (p.Asp185Asn) n.735G>A
16	g.2496701G>C	CA394376529	TBC1D24	c.553G>C (p.Asp185His) n.735G>C
16	g.2496701G>T	CA394376527	TBC1D24	c.553G>T (p.Asp185Tyr) n.735G>T
16	g.2496702A>C	CA394376532	TBC1D24	c.554A>C (p.Asp185Ala) n.736A>C
16	g.2496702A>G	CA394376536	TBC1D24	c.554A>G (p.Asp185Gly) n.736A>G
16	g.2496702A>T	CA394376534	TBC1D24	c.554A>T (p.Asp185Val) n.736A>T
16	g.2496703C>A	CA394376538	TBC1D24	c.555C>A (p.Asp185Glu) n.737C>A
16	g.2496703C=	CA2202259947	TBC1D24	c.555C= (p.Asp185=) n.737C=
16	g.2496703C>G	CA394376539	TBC1D24	c.555C>G (p.Asp185Glu) n.737C>G
16	g.2496703C>T	CA493366986	TBC1D24	c.555C>T (p.Asp185=) n.737C>T	ClinVar dbSNP
16	g.2496704C>A	CA394376543	TBC1D24	c.556C>A (p.Leu186Met) n.738C>A	dbSNP gnomAD v4
16	g.2496704C=	CA2202259948	TBC1D24	c.556C= (p.Leu186=) n.738C=
16	g.2496704C>G	CA394376544	TBC1D24	c.556C>G (p.Leu186Val) n.738C>G	ClinVar dbSNP
16	g.2496704C>T	CA493366987	TBC1D24	c.556C>T (p.Leu186=) n.738C>T
16	g.2496704_2496705delinsCT	CA2202259949	TBC1D24	c.556_557delinsCT (p.Leu186=) n.738_739delinsCT
16	g.2496705del	CA620709065	TBC1D24	c.557del (p.Leu186ArgfsTer2) n.739del	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.2496705T>A	CA394376546	TBC1D24	c.557T>A (p.Leu186Gln) n.739T>A
16	g.2496705T>C	CA394376549	TBC1D24	c.557T>C (p.Leu186Pro) n.739T>C	gnomAD v4
16	g.2496705T>G	CA394376548	TBC1D24	c.557T>G (p.Leu186Arg) n.739T>G
16	g.2496706G>A	CA493366988	TBC1D24	c.558G>A (p.Leu186=) n.740G>A	dbSNP gnomAD v2 gnomAD v4
16	g.2496706G>C	CA493366990	TBC1D24	c.558G>C (p.Leu186=) n.740G>C
16	g.2496706G=	CA2202259950	TBC1D24	c.558G= (p.Leu186=) n.740G=
16	g.2496706G>T	CA493366992	TBC1D24	c.558G>T (p.Leu186=) n.740G>T
16	g.2496707G>A	CA394376553	TBC1D24	c.559G>A (p.Val187Met) n.741G>A
16	g.2496707G>C	CA394376555	TBC1D24	c.559G>C (p.Val187Leu) n.741G>C
16	g.2496707G>T	CA394376557	TBC1D24	c.559G>T (p.Val187Leu) n.741G>T
16	g.2496708T>A	CA394376560	TBC1D24	c.560T>A (p.Val187Glu) n.742T>A
16	g.2496708T>C	CA394376562	TBC1D24	c.560T>C (p.Val187Ala) n.742T>C
16	g.2496708T>G	CA394376564	TBC1D24	c.560T>G (p.Val187Gly) n.742T>G
16	g.2496709G>A	CA493366997	TBC1D24	c.561G>A (p.Val187=) n.743G>A
16	g.2496709G>C	CA493366998	TBC1D24	c.561G>C (p.Val187=) n.743G>C
16	g.2496709G=	CA2202259951	TBC1D24	c.561G= (p.Val187=) n.743G=
16	g.2496709G>T	CA493366996	TBC1D24	c.561G>T (p.Val187=) n.743G>T	ClinVar dbSNP gnomAD v4
16	g.2496710A>C	CA394376567	TBC1D24	c.562A>C (p.Asn188His) n.744A>C
16	g.2496710A>G	CA394376568	TBC1D24	c.562A>G (p.Asn188Asp) n.744A>G
16	g.2496710A>T	CA394376570	TBC1D24	c.562A>T (p.Asn188Tyr) n.744A>T
16	g.2496711A>C	CA394376573	TBC1D24	c.563A>C (p.Asn188Thr) n.745A>C
16	g.2496711A>G	CA394376574	TBC1D24	c.563A>G (p.Asn188Ser) n.745A>G
16	g.2496711A>T	CA394376576	TBC1D24	c.563A>T (p.Asn188Ile) n.745A>T	gnomAD v4
16	g.2496712C>A	CA394376580	TBC1D24	c.564C>A (p.Asn188Lys) n.746C>A
16	g.2496712C>G	CA394376579	TBC1D24	c.564C>G (p.Asn188Lys) n.746C>G
16	g.2496712C>T	CA493367002	TBC1D24	c.564C>T (p.Asn188=) n.746C>T
16	g.2496713A>C	CA394376581	TBC1D24	c.565A>C (p.Lys189Gln) n.747A>C
16	g.2496713A>G	CA394376582	TBC1D24	c.565A>G (p.Lys189Glu) n.747A>G
16	g.2496713A>T	CA394376584	TBC1D24	c.565A>T (p.Lys189Ter) n.747A>T
16	g.2496714A=	CA2202259952	TBC1D24	c.566A= (p.Lys189=) n.748A=
16	g.2496714A>C	CA394376587	TBC1D24	c.566A>C (p.Lys189Thr) n.748A>C
16	g.2496714A>G	CA394376589	TBC1D24	c.566A>G (p.Lys189Arg) n.748A>G	dbSNP gnomAD v4
16	g.2496714A>T	CA394376592	TBC1D24	c.566A>T (p.Lys189Met) n.748A>T	dbSNP
16	g.2496715G>A	CA493367007	TBC1D24	c.567G>A (p.Lys189=) n.749G>A	gnomAD v4
16	g.2496715G>C	CA394376594	TBC1D24	c.567G>C (p.Lys189Asn) n.749G>C
16	g.2496715G>T	CA394376596	TBC1D24	c.567G>T (p.Lys189Asn) n.749G>T	gnomAD v4
16	g.2496716del	CA2631210258	TBC1D24	c.568del (p.Tyr190ThrfsTer8) n.750del	gnomAD v4
16	g.2496716T>A	CA394376598	TBC1D24	c.568T>A (p.Tyr190Asn) n.750T>A
16	g.2496716T>C	CA394376600	TBC1D24	c.568T>C (p.Tyr190His) n.750T>C	gnomAD v4
16	g.2496716T>G	CA394376602	TBC1D24	c.568T>G (p.Tyr190Asp) n.750T>G
16	g.2496717A>C	CA394376608	TBC1D24	c.569A>C (p.Tyr190Ser) n.751A>C
16	g.2496717A>G	CA394376606	TBC1D24	c.569A>G (p.Tyr190Cys) n.751A>G
16	g.2496717A>T	CA394376605	TBC1D24	c.569A>T (p.Tyr190Phe) n.751A>T
16	g.2496718C>A	CA394376611	TBC1D24	c.570C>A (p.Tyr190Ter) n.752C>A
16	g.2496718C=	CA2202259953	TBC1D24	c.570C= (p.Tyr190=) n.752C=
16	g.2496718C>G	CA394376613	TBC1D24	c.570C>G (p.Tyr190Ter) n.752C>G
16	g.2496718C>T	CA276809628	TBC1D24	c.570C>T (p.Tyr190=) n.752C>T	ClinVar dbSNP gnomAD v4
16	g.2496719T>A	CA394376615	TBC1D24	c.571T>A (p.Cys191Ser) n.753T>A	gnomAD v4
16	g.2496719T>C	CA394376617	TBC1D24	c.571T>C (p.Cys191Arg) n.753T>C	ClinVar
16	g.2496719T>G	CA394376619	TBC1D24	c.571T>G (p.Cys191Gly) n.753T>G
16	g.2496720G>A	CA394376622	TBC1D24	c.572G>A (p.Cys191Tyr) n.754G>A
16	g.2496720G>C	CA394376623	TBC1D24	c.572G>C (p.Cys191Ser) n.754G>C
16	g.2496720G>T	CA394376625	TBC1D24	c.572G>T (p.Cys191Phe) n.754G>T
16	g.2496721C>A	CA394376627	TBC1D24	c.573C>A (p.Cys191Ter) n.755C>A
16	g.2496721C>G	CA394376629	TBC1D24	c.573C>G (p.Cys191Trp) n.755C>G
16	g.2496721C>T	CA493367015	TBC1D24	c.573C>T (p.Cys191=) n.755C>T	COSMIC
16	g.2496722C>A	CA394376631	TBC1D24	c.574C>A (p.Gln192Lys) n.756C>A
16	g.2496722C>G	CA394376632	TBC1D24	c.574C>G (p.Gln192Glu) n.756C>G	gnomAD v4
16	g.2496722C>T	CA394376633	TBC1D24	c.574C>T (p.Gln192Ter) n.756C>T	ClinVar dbSNP
16	g.2496723A=	CA2202259954	TBC1D24	c.575A= (p.Gln192=) n.757A=
16	g.2496723A>C	CA394376636	TBC1D24	c.575A>C (p.Gln192Pro) n.757A>C
16	g.2496723A>G	CA7844024	TBC1D24	c.575A>G (p.Gln192Arg) n.757A>G	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2496723A>T	CA394376634	TBC1D24	c.575A>T (p.Gln192Leu) n.757A>T
16	g.2496724G>A	CA493367018	TBC1D24	c.576G>A (p.Gln192=) n.758G>A	gnomAD v4
16	g.2496724G>C	CA394376638	TBC1D24	c.576G>C (p.Gln192His) n.758G>C
16	g.2496724G>T	CA394376640	TBC1D24	c.576G>T (p.Gln192His) n.758G>T
16	g.2496725G>A	CA394376641	TBC1D24	c.577G>A (p.Ala193Thr) n.759G>A
16	g.2496725G>C	CA394376643	TBC1D24	c.577G>C (p.Ala193Pro) n.759G>C
16	g.2496725G>T	CA394376645	TBC1D24	c.577G>T (p.Ala193Ser) n.759G>T
16	g.2496726C>A	CA394376647	TBC1D24	c.578C>A (p.Ala193Glu) n.760C>A	gnomAD v4
16	g.2496726C=	CA2202259955	TBC1D24	c.578C= (p.Ala193=) n.760C=
16	g.2496726C>G	CA394376648	TBC1D24	c.578C>G (p.Ala193Gly) n.760C>G
16	g.2496726C>T	CA319027	TBC1D24	c.578C>T (p.Ala193Val) n.760C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2496727G>A	CA493367022	TBC1D24	c.579G>A (p.Ala193=) n.761G>A	dbSNP gnomAD v3 gnomAD v4 COSMIC
16	g.2496727G>C	CA493367023	TBC1D24	c.579G>C (p.Ala193=) n.761G>C
16	g.2496727G=	CA2202259956	TBC1D24	c.579G= (p.Ala193=) n.761G=
16	g.2496727G>T	CA493367025	TBC1D24	c.579G>T (p.Ala193=) n.761G>T	ClinVar dbSNP gnomAD v4
16	g.2496728G>A	CA394376652	TBC1D24	c.580G>A (p.Ala194Thr) n.762G>A	dbSNP gnomAD v2 gnomAD v4
16	g.2496728G>C	CA394376653	TBC1D24	c.580G>C (p.Ala194Pro) n.762G>C
16	g.2496728G=	CA2202259957	TBC1D24	c.580G= (p.Ala194=) n.762G=
16	g.2496728G>T	CA394376654	TBC1D24	c.580G>T (p.Ala194Ser) n.762G>T
16	g.2496729C>A	CA394376661	TBC1D24	c.581C>A (p.Ala194Asp) n.763C>A
16	g.2496729C=	CA2202259958	TBC1D24	c.581C= (p.Ala194=) n.763C=
16	g.2496729C>G	CA394376659	TBC1D24	c.581C>G (p.Ala194Gly) n.763C>G
16	g.2496729C>T	CA394376657	TBC1D24	c.581C>T (p.Ala194Val) n.763C>T	ClinVar dbSNP gnomAD v2
16	g.2496730C>A	CA493367032	TBC1D24	c.582C>A (p.Ala194=) n.764C>A
16	g.2496730C=	CA2202259959	TBC1D24	c.582C= (p.Ala194=) n.764C=
16	g.2496730C>G	CA493367031	TBC1D24	c.582C>G (p.Ala194=) n.764C>G
16	g.2496730C>T	CA493367030	TBC1D24	c.582C>T (p.Ala194=) n.764C>T	dbSNP gnomAD v2
16	g.2496731C>A	CA394376663	TBC1D24	c.583C>A (p.His195Asn) n.765C>A
16	g.2496731C>G	CA394376665	TBC1D24	c.583C>G (p.His195Asp) n.765C>G
16	g.2496731C>T	CA394376667	TBC1D24	c.583C>T (p.His195Tyr) n.765C>T
16	g.2496732A>C	CA394376670	TBC1D24	c.584A>C (p.His195Pro) n.766A>C
16	g.2496732A>G	CA394376671	TBC1D24	c.584A>G (p.His195Arg) n.766A>G
16	g.2496732A>T	CA394376672	TBC1D24	c.584A>T (p.His195Leu) n.766A>T
16	g.2496733C>A	CA394376675	TBC1D24	c.585C>A (p.His195Gln) n.767C>A
16	g.2496733C>G	CA394376677	TBC1D24	c.585C>G (p.His195Gln) n.767C>G	ClinVar
16	g.2496733C>T	CA493367036	TBC1D24	c.585C>T (p.His195=) n.767C>T
16	g.2496734A>C	CA394376679	TBC1D24	c.586A>C (p.Lys196Gln) n.768A>C
16	g.2496734A>G	CA394376681	TBC1D24	c.586A>G (p.Lys196Glu) n.768A>G
16	g.2496734A>T	CA394376683	TBC1D24	c.586A>T (p.Lys196Ter) n.768A>T
16	g.2496735A=	CA2202259960	TBC1D24	c.587A= (p.Lys196=) n.769A=
16	g.2496735A>C	CA394376685	TBC1D24	c.587A>C (p.Lys196Thr) n.769A>C
16	g.2496735A>G	CA7844025	TBC1D24	c.587A>G (p.Lys196Arg) n.769A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2496735A>T	CA394376688	TBC1D24	c.587A>T (p.Lys196Met) n.769A>T
16	g.2496736G>A	CA493367039	TBC1D24	c.588G>A (p.Lys196=) n.770G>A	gnomAD v4
16	g.2496736G>C	CA394376693	TBC1D24	c.588G>C (p.Lys196Asn) n.770G>C	dbSNP gnomAD v2 gnomAD v4
16	g.2496736G=	CA2202259961	TBC1D24	c.588G= (p.Lys196=) n.770G=
16	g.2496736G>T	CA394376691	TBC1D24	c.588G>T (p.Lys196Asn) n.770G>T
16	g.2496737C>A	CA394376696	TBC1D24	c.589C>A (p.Leu197Met) n.771C>A	gnomAD v4
16	g.2496737C>G	CA394376698	TBC1D24	c.589C>G (p.Leu197Val) n.771C>G
16	g.2496737C>T	CA493367040	TBC1D24	c.589C>T (p.Leu197=) n.771C>T
16	g.2496738T>A	CA394376700	TBC1D24	c.590T>A (p.Leu197Gln) n.772T>A
16	g.2496738T>C	CA394376703	TBC1D24	c.590T>C (p.Leu197Pro) n.772T>C
16	g.2496738T>G	CA394376704	TBC1D24	c.590T>G (p.Leu197Arg) n.772T>G
16	g.2496739G>A	CA493367044	TBC1D24	c.591G>A (p.Leu197=) n.773G>A
16	g.2496739G>C	CA493367045	TBC1D24	c.591G>C (p.Leu197=) n.773G>C
16	g.2496739G>T	CA493367046	TBC1D24	c.591G>T (p.Leu197=) n.773G>T
16	g.2496740A=	CA2202259962	TBC1D24	c.592A= (p.Met198=) n.774A=
16	g.2496740A>C	CA394376706	TBC1D24	c.592A>C (p.Met198Leu) n.774A>C
16	g.2496740A>G	CA394376705	TBC1D24	c.592A>G (p.Met198Val) n.774A>G
16	g.2496740A>T	CA7844026	TBC1D24	c.592A>T (p.Met198Leu) n.774A>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2496741T>A	CA394376707	TBC1D24	c.593T>A (p.Met198Lys) n.775T>A
16	g.2496741T>C	CA394376708	TBC1D24	c.593T>C (p.Met198Thr) n.775T>C
16	g.2496741T>G	CA394376709	TBC1D24	c.593T>G (p.Met198Arg) n.775T>G	gnomAD v4
16	g.2496742G>A	CA394376710	TBC1D24	c.594G>A (p.Met198Ile) n.776G>A
16	g.2496742G>C	CA394376711	TBC1D24	c.594G>C (p.Met198Ile) n.776G>C
16	g.2496742G>T	CA394376712	TBC1D24	c.594G>T (p.Met198Ile) n.776G>T
16	g.2496743G>A	CA394376713	TBC1D24	c.595G>A (p.Val199Met) n.777G>A
16	g.2496743G>C	CA394376715	TBC1D24	c.595G>C (p.Val199Leu) n.777G>C
16	g.2496743G>T	CA394376714	TBC1D24	c.595G>T (p.Val199Leu) n.777G>T
16	g.2496744T>A	CA394376716	TBC1D24	c.596T>A (p.Val199Glu) n.778T>A
16	g.2496744T>C	CA394376717	TBC1D24	c.596T>C (p.Val199Ala) n.778T>C	ClinVar
16	g.2496744T>G	CA394376718	TBC1D24	c.596T>G (p.Val199Gly) n.778T>G
16	g.2496745G>A	CA493367052	TBC1D24	c.597G>A (p.Val199=) n.779G>A
16	g.2496745G>C	CA493367053	TBC1D24	c.597G>C (p.Val199=) n.779G>C
16	g.2496745G>T	CA493367054	TBC1D24	c.597G>T (p.Val199=) n.779G>T
16	g.2496746G>A	CA394376719	TBC1D24	c.598G>A (p.Ala200Thr) n.780G>A	gnomAD v4
16	g.2496746G>C	CA394376720	TBC1D24	c.598G>C (p.Ala200Pro) n.780G>C
16	g.2496746G>T	CA394376721	TBC1D24	c.598G>T (p.Ala200Ser) n.780G>T
16	g.2496747C>A	CA394376722	TBC1D24	c.599C>A (p.Ala200Asp) n.781C>A
16	g.2496747C=	CA2202259963	TBC1D24	c.599C= (p.Ala200=) n.781C=
16	g.2496747C>G	CA394376723	TBC1D24	c.599C>G (p.Ala200Gly) n.781C>G
16	g.2496747C>T	CA7844027	TBC1D24	c.599C>T (p.Ala200Val) n.781C>T	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16	g.2496748C>A	CA493367057	TBC1D24	c.600C>A (p.Ala200=) n.782C>A
16	g.2496748C=	CA2202259964	TBC1D24	c.600C= (p.Ala200=) n.782C=
16	g.2496748C>G	CA493367059	TBC1D24	c.600C>G (p.Ala200=) n.782C>G
16	g.2496748C>T	CA7844028	TBC1D24	c.600C>T (p.Ala200=) n.782C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2496749del	CA2631210323	TBC1D24	c.601del (p.Val201CysfsTer?) n.783del	gnomAD v4
16	g.2496749G>A	CA7844029	TBC1D24	c.601G>A (p.Val201Met) n.783G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.2496749G>C	CA394376724	TBC1D24	c.601G>C (p.Val201Leu) n.783G>C
16	g.2496749G=	CA2202259965	TBC1D24	c.601G= (p.Val201=) n.783G=
16	g.2496749G>T	CA394376725	TBC1D24	c.601G>T (p.Val201Leu) n.783G>T
16	g.2496750T>A	CA394376726	TBC1D24	c.602T>A (p.Val201Glu) n.784T>A
16	g.2496750T>C	CA394376728	TBC1D24	c.602T>C (p.Val201Ala) n.784T>C
16	g.2496750T>G	CA394376727	TBC1D24	c.602T>G (p.Val201Gly) n.784T>G
16	g.2496751G>A	CA493367064	TBC1D24	c.603G>A (p.Val201=) n.785G>A
16	g.2496751G>C	CA493367066	TBC1D24	c.603G>C (p.Val201=) n.785G>C
16	g.2496751G>T	CA493367065	TBC1D24	c.603G>T (p.Val201=) n.785G>T
16	g.2496752T>A	CA394376729	TBC1D24	c.604T>A (p.Ser202Thr) n.786T>A
16	g.2496752T>C	CA394376730	TBC1D24	c.604T>C (p.Ser202Pro) n.786T>C
16	g.2496752T>G	CA394376731	TBC1D24	c.604T>G (p.Ser202Ala) n.786T>G
16	g.2496753C>A	CA394376732	TBC1D24	c.605C>A (p.Ser202Ter) n.787C>A	dbSNP gnomAD v3 gnomAD v4
16	g.2496753C=	CA2202259966	TBC1D24	c.605C= (p.Ser202=) n.787C=
16	g.2496753C>G	CA394376733	TBC1D24	c.605C>G (p.Ser202Trp) n.787C>G
16	g.2496753C>T	CA319029	TBC1D24	c.605C>T (p.Ser202Leu) n.787C>T	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.2496754G>A	CA7844030	TBC1D24	c.606G>A (p.Ser202=) n.788G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.2496754G>C	CA493367069	TBC1D24	c.606G>C (p.Ser202=) n.788G>C
16	g.2496754G=	CA2202259967	TBC1D24	c.606G= (p.Ser202=) n.788G=
16	g.2496754G>T	CA493367071	TBC1D24	c.606G>T (p.Ser202=) n.788G>T
16	g.2496755G>A	CA394376734	TBC1D24	c.607G>A (p.Glu203Lys) n.789G>A
16	g.2496755G>C	CA394376735	TBC1D24	c.607G>C (p.Glu203Gln) n.789G>C
16	g.2496755G>T	CA394376736	TBC1D24	c.607G>T (p.Glu203Ter) n.789G>T
16	g.2496756A>C	CA394376739	TBC1D24	c.608A>C (p.Glu203Ala) n.790A>C
16	g.2496756A>G	CA394376738	TBC1D24	c.608A>G (p.Glu203Gly) n.790A>G
16	g.2496756A>T	CA394376737	TBC1D24	c.608A>T (p.Glu203Val) n.790A>T
16	g.2496757G>A	CA493367072	TBC1D24	c.609G>A (p.Glu203=) n.791G>A	dbSNP gnomAD v2 gnomAD v4
16	g.2496757G>C	CA394376740	TBC1D24	c.609G>C (p.Glu203Asp) n.791G>C
16	g.2496757G=	CA2202259968	TBC1D24	c.609G= (p.Glu203=) n.791G=
16	g.2496757G>T	CA394376741	TBC1D24	c.609G>T (p.Glu203Asp) n.791G>T
16	g.2496758G>A	CA394376742	TBC1D24	c.610G>A (p.Asp204Asn) n.792G>A
16	g.2496758G>C	CA394376744	TBC1D24	c.610G>C (p.Asp204His) n.792G>C
16	g.2496758G>T	CA394376743	TBC1D24	c.610G>T (p.Asp204Tyr) n.792G>T
16	g.2496759A>C	CA394376745	TBC1D24	c.611A>C (p.Asp204Ala) n.793A>C
16	g.2496759A>G	CA394376746	TBC1D24	c.611A>G (p.Asp204Gly) n.793A>G	gnomAD v4
16	g.2496759A>T	CA394376747	TBC1D24	c.611A>T (p.Asp204Val) n.793A>T
16	g.2496760T>A	CA394376748	TBC1D24	c.612T>A (p.Asp204Glu) n.794T>A
16	g.2496760T>C	CA493367075	TBC1D24	c.612T>C (p.Asp204=) n.794T>C	ClinVar gnomAD v4
16	g.2496760T>G	CA394376749	TBC1D24	c.612T>G (p.Asp204Glu) n.794T>G
16	g.2496761G>A	CA394376750	TBC1D24	c.613G>A (p.Val205Ile) n.795G>A
16	g.2496761G>C	CA394376751	TBC1D24	c.613G>C (p.Val205Leu) n.795G>C
16	g.2496761G>T	CA394376752	TBC1D24	c.613G>T (p.Val205Phe) n.795G>T	gnomAD v4
16	g.2496762T>A	CA394376753	TBC1D24	c.614T>A (p.Val205Asp) n.796T>A
16	g.2496762T>C	CA394376754	TBC1D24	c.614T>C (p.Val205Ala) n.796T>C
16	g.2496762T>G	CA394376755	TBC1D24	c.614T>G (p.Val205Gly) n.796T>G
16	g.2496763C>A	CA493367078	TBC1D24	c.615C>A (p.Val205=) n.797C>A
16	g.2496763C>G	CA493367081	TBC1D24	c.615C>G (p.Val205=) n.797C>G
16	g.2496763C>T	CA493367079	TBC1D24	c.615C>T (p.Val205=) n.797C>T
16	g.2496764C>A	CA394376757	TBC1D24	c.616C>A (p.Leu206Met) n.798C>A
16	g.2496764C=	CA2202259969	TBC1D24	c.616C= (p.Leu206=) n.798C=
16	g.2496764C>G	CA394376756	TBC1D24	c.616C>G (p.Leu206Val) n.798C>G
16	g.2496764C>T	CA493366782	TBC1D24	c.616C>T (p.Leu206=) n.798C>T	dbSNP gnomAD v2
16	g.2496765T>A	CA394376758	TBC1D24	c.617T>A (p.Leu206Gln) n.799T>A
16	g.2496765T>C	CA394376759	TBC1D24	c.617T>C (p.Leu206Pro) n.799T>C
16	g.2496765T>G	CA394376760	TBC1D24	c.617T>G (p.Leu206Arg) n.799T>G
16	g.2496766G>A	CA493366786	TBC1D24	c.618G>A (p.Leu206=) n.800G>A
16	g.2496766G>C	CA493366787	TBC1D24	c.618G>C (p.Leu206=) n.800G>C
16	g.2496766G>T	CA493366788	TBC1D24	c.618G>T (p.Leu206=) n.800G>T
16	g.2496767C>A	CA7844032	TBC1D24	c.619C>A (p.Gln207Lys) n.801C>A	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2496767C=	CA2202259970	TBC1D24	c.619C= (p.Gln207=) n.801C=
16	g.2496767C>G	CA394376761	TBC1D24	c.619C>G (p.Gln207Glu) n.801C>G	gnomAD v4
16	g.2496767C>T	CA7844031	TBC1D24	c.619C>T (p.Gln207Ter) n.801C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2496768A=	CA2202259972	TBC1D24	c.620A= (p.Gln207=) n.802A=
16	g.2496768A>C	CA394376762	TBC1D24	c.620A>C (p.Gln207Pro) n.802A>C
16	g.2496768A>G	CA394376763	TBC1D24	c.620A>G (p.Gln207Arg) n.802A>G	gnomAD v4
16	g.2496768A>T	CA394376764	TBC1D24	c.620A>T (p.Gln207Leu) n.802A>T	dbSNP
16	g.2496768_2496769insCCTA	CA2202259971	TBC1D24	c.620_621insCCTA (p.Gln207HisfsTer25) n.802_803insCCTA	dbSNP
16	g.2496769G>A	CA493366791	TBC1D24	c.621G>A (p.Gln207=) n.803G>A
16	g.2496769G>C	CA10577006	TBC1D24	c.621G>C (p.Gln207His) n.803G>C	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.2496769G=	CA2202259973	TBC1D24	c.621G= (p.Gln207=) n.803G=
16	g.2496769G>T	CA394376765	TBC1D24	c.621G>T (p.Gln207His) n.803G>T
16	g.2496770G>A	CA394376768	TBC1D24	c.622G>A (p.Val208Ile) n.804G>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.2496770G>C	CA394376767	TBC1D24	c.622G>C (p.Val208Leu) n.804G>C
16	g.2496770G=	CA2202259974	TBC1D24	c.622G= (p.Val208=) n.804G=
16	g.2496770G>T	CA394376766	TBC1D24	c.622G>T (p.Val208Phe) n.804G>T
16	g.2496771T>A	CA394376769	TBC1D24	c.623T>A (p.Val208Asp) n.805T>A
16	g.2496771T>C	CA394376770	TBC1D24	c.623T>C (p.Val208Ala) n.805T>C
16	g.2496771T>G	CA394376771	TBC1D24	c.623T>G (p.Val208Gly) n.805T>G
16	g.2496772C>A	CA493366793	TBC1D24	c.624C>A (p.Val208=) n.806C>A
16	g.2496772C>G	CA493366794	TBC1D24	c.624C>G (p.Val208=) n.806C>G
16	g.2496772C>T	CA493366797	TBC1D24	c.624C>T (p.Val208=) n.806C>T	ClinVar
16	g.2496773T>A	CA394376772	TBC1D24	c.625T>A (p.Tyr209Asn) n.807T>A
16	g.2496773T>C	CA394376773	TBC1D24	c.625T>C (p.Tyr209His) n.807T>C
16	g.2496773T>G	CA394376774	TBC1D24	c.625T>G (p.Tyr209Asp) n.807T>G
16	g.2496774A=	CA2202259975	TBC1D24	c.626A= (p.Tyr209=) n.808A=
16	g.2496774A>C	CA394376775	TBC1D24	c.626A>C (p.Tyr209Ser) n.808A>C	dbSNP gnomAD v4
16	g.2496774A>G	CA394376776	TBC1D24	c.626A>G (p.Tyr209Cys) n.808A>G
16	g.2496774A>T	CA394376777	TBC1D24	c.626A>T (p.Tyr209Phe) n.808A>T
16	g.2496775T>A	CA394376778	TBC1D24	c.627T>A (p.Tyr209Ter) n.809T>A
16	g.2496775T>C	CA7844033	TBC1D24	c.627T>C (p.Tyr209=) n.809T>C	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2496775T>G	CA394376779	TBC1D24	c.627T>G (p.Tyr209Ter) n.809T>G
16	g.2496775T=	CA2202259976	TBC1D24	c.627T= (p.Tyr209=) n.809T=
16	g.2496776G>A	CA394376782	TBC1D24	c.628G>A (p.Ala210Thr) n.810G>A	ClinVar dbSNP
16	g.2496776G>C	CA394376780	TBC1D24	c.628G>C (p.Ala210Pro) n.810G>C
16	g.2496776G>T	CA394376781	TBC1D24	c.628G>T (p.Ala210Ser) n.810G>T
16	g.2496777C>A	CA394376783	TBC1D24	c.629C>A (p.Ala210Glu) n.811C>A
16	g.2496777C=	CA2202259977	TBC1D24	c.629C= (p.Ala210=) n.811C=
16	g.2496777C>G	CA394376784	TBC1D24	c.629C>G (p.Ala210Gly) n.811C>G
16	g.2496777C>T	CA7844034	TBC1D24	c.629C>T (p.Ala210Val) n.811C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16	g.2496778G>A	CA318991	TBC1D24	c.630G>A (p.Ala210=) n.812G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.2496778G>C	CA493366803	TBC1D24	c.630G>C (p.Ala210=) n.812G>C	dbSNP gnomAD v2 gnomAD v4
16	g.2496778G=	CA2202259978	TBC1D24	c.630G= (p.Ala210=) n.812G=
16	g.2496778G>T	CA493366805	TBC1D24	c.630G>T (p.Ala210=) n.812G>T
16	g.2496779G>A	CA394376785	TBC1D24	c.631G>A (p.Asp211Asn) n.813G>A	ClinVar dbSNP gnomAD v4
16	g.2496779G>C	CA394376786	TBC1D24	c.631G>C (p.Asp211His) n.813G>C
16	g.2496779G=	CA2202259979	TBC1D24	c.631G= (p.Asp211=) n.813G=
16	g.2496779G>T	CA394376787	TBC1D24	c.631G>T (p.Asp211Tyr) n.813G>T
16	g.2496780A=	CA2202259980	TBC1D24	c.632A= (p.Asp211=) n.814A=
16	g.2496780A>C	CA394376788	TBC1D24	c.632A>C (p.Asp211Ala) n.814A>C	gnomAD v4
16	g.2496780A>G	CA394376789	TBC1D24	c.632A>G (p.Asp211Gly) n.814A>G	ClinVar dbSNP
16	g.2496780A>T	CA394376790	TBC1D24	c.632A>T (p.Asp211Val) n.814A>T
16	g.2496781C>A	CA394376791	TBC1D24	c.633C>A (p.Asp211Glu) n.815C>A
16	g.2496781C>G	CA394376792	TBC1D24	c.633C>G (p.Asp211Glu) n.815C>G
16	g.2496781C>T	CA493366807	TBC1D24	c.633C>T (p.Asp211=) n.815C>T	gnomAD v4
16	g.2496782T>A	CA394376794	TBC1D24	c.634T>A (p.Trp212Arg) n.816T>A
16	g.2496782T>C	CA394376795	TBC1D24	c.634T>C (p.Trp212Arg) n.816T>C	gnomAD v4
16	g.2496782T>G	CA394376793	TBC1D24	c.634T>G (p.Trp212Gly) n.816T>G	gnomAD v4
16	g.2496783G>A	CA394376798	TBC1D24	c.635G>A (p.Trp212Ter) n.817G>A
16	g.2496783G>C	CA394376796	TBC1D24	c.635G>C (p.Trp212Ser) n.817G>C
16	g.2496783G>T	CA394376797	TBC1D24	c.635G>T (p.Trp212Leu) n.817G>T
16	g.2496784G>A	CA394376799	TBC1D24	c.636G>A (p.Trp212Ter) n.818G>A	ClinVar dbSNP
16	g.2496784G>C	CA394376800	TBC1D24	c.636G>C (p.Trp212Cys) n.818G>C
16	g.2496784G>T	CA394376801	TBC1D24	c.636G>T (p.Trp212Cys) n.818G>T	gnomAD v4
16	g.2496785C>A	CA394376802	TBC1D24	c.637C>A (p.Gln213Lys) n.819C>A
16	g.2496785C>G	CA394376803	TBC1D24	c.637C>G (p.Gln213Glu) n.819C>G
16	g.2496785C>T	CA394376804	TBC1D24	c.637C>T (p.Gln213Ter) n.819C>T
16	g.2496790_2496941del	CA2499223458	TBC1D24	c.642_793del (p.Trp215GlufsTer18) n.824_975del	ClinVar dbSNP
16	g.2496786A>C	CA394376805	TBC1D24	c.638A>C (p.Gln213Pro) n.820A>C
16	g.2496786A>G	CA394376806	TBC1D24	c.638A>G (p.Gln213Arg) n.820A>G	gnomAD v4
16	g.2496786A>T	CA394376807	TBC1D24	c.638A>T (p.Gln213Leu) n.820A>T
16	g.2496787G>A	CA493366813	TBC1D24	c.639G>A (p.Gln213=) n.821G>A	dbSNP gnomAD v2
16	g.2496787G>C	CA394376808	TBC1D24	c.639G>C (p.Gln213His) n.821G>C	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.2496787G=	CA2202259981	TBC1D24	c.639G= (p.Gln213=) n.821G=
16	g.2496787G>T	CA394376809	TBC1D24	c.639G>T (p.Gln213His) n.821G>T

Number of alleles fetched