Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2496589_2496606del | CA2631209959 | TBC1D24 | c.441_458del (p.Asp147_Phe152del) n.623_640del | 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= | |
16 | g.2496594C>G | CA394376038 | TBC1D24 | c.446C>G (p.Ala149Gly) n.628C>G | |
16 | g.2496594C>T | CA394376039 | TBC1D24 | c.446C>T (p.Ala149Val) n.628C>T | ClinVar dbSNP |
16 | g.2496595C>A | CA493366708 | TBC1D24 | c.447C>A (p.Ala149=) n.629C>A | dbSNP |
16 | g.2496595C= | CA2202259889 | TBC1D24 | c.447C= (p.Ala149=) n.629C= | |
16 | g.2496595C>G | CA493366711 | TBC1D24 | c.447C>G (p.Ala149=) n.629C>G | |
16 | g.2496595C>T | CA7844005 | TBC1D24 | c.447C>T (p.Ala149=) n.629C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2496596G>A | CA7844006 | TBC1D24 | c.448G>A (p.Glu150Lys) n.630G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496596G>C | CA394376043 | TBC1D24 | c.448G>C (p.Glu150Gln) n.630G>C | gnomAD v4 |
16 | g.2496596G= | CA2202259890 | TBC1D24 | c.448G= (p.Glu150=) n.630G= | |
16 | g.2496596G>T | CA394376045 | TBC1D24 | c.448G>T (p.Glu150Ter) n.630G>T | |
16 | g.2496597A>C | CA394376047 | TBC1D24 | c.449A>C (p.Glu150Ala) n.631A>C | |
16 | g.2496597A>G | CA394376048 | TBC1D24 | c.449A>G (p.Glu150Gly) n.631A>G | |
16 | g.2496597A>T | CA394376049 | TBC1D24 | c.449A>T (p.Glu150Val) n.631A>T | |
16 | g.2496598G>A | CA493366716 | TBC1D24 | c.450G>A (p.Glu150=) n.632G>A | gnomAD v4 |
16 | g.2496598G>C | CA394376051 | TBC1D24 | c.450G>C (p.Glu150Asp) n.632G>C | |
16 | g.2496598G>T | CA394376052 | TBC1D24 | c.450G>T (p.Glu150Asp) n.632G>T | gnomAD v4 |
16 | g.2496599T>A | CA394376055 | TBC1D24 | c.451T>A (p.Cys151Ser) n.633T>A | |
16 | g.2496599T>C | CA394376057 | TBC1D24 | c.451T>C (p.Cys151Arg) n.633T>C | |
16 | g.2496599T>G | CA394376056 | TBC1D24 | c.451T>G (p.Cys151Gly) n.633T>G | |
16 | g.2496600G>A | CA394376059 | TBC1D24 | c.452G>A (p.Cys151Tyr) n.634G>A | gnomAD v4 |
16 | g.2496600G>C | CA394376064 | TBC1D24 | c.452G>C (p.Cys151Ser) n.634G>C | |
16 | g.2496600G= | CA2202259891 | TBC1D24 | c.452G= (p.Cys151=) n.634G= | |
16 | g.2496600G>T | CA394376062 | TBC1D24 | c.452G>T (p.Cys151Phe) n.634G>T | dbSNP |
16 | g.2496601C>A | CA394376067 | TBC1D24 | c.453C>A (p.Cys151Ter) n.635C>A | |
16 | g.2496601C= | CA2202259892 | TBC1D24 | c.453C= (p.Cys151=) n.635C= | |
16 | g.2496601C>G | CA394376068 | TBC1D24 | c.453C>G (p.Cys151Trp) n.635C>G | |
16 | g.2496601C>T | CA493366720 | TBC1D24 | c.453C>T (p.Cys151=) n.635C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496602T>A | CA394376071 | TBC1D24 | c.454T>A (p.Phe152Ile) n.636T>A | |
16 | g.2496602T>C | CA394376073 | TBC1D24 | c.454T>C (p.Phe152Leu) n.636T>C | |
16 | g.2496602T>G | CA394376074 | TBC1D24 | c.454T>G (p.Phe152Val) n.636T>G | |
16 | g.2496603T>A | CA394376077 | TBC1D24 | c.455T>A (p.Phe152Tyr) n.637T>A | gnomAD v4 |
16 | g.2496603T>C | CA394376079 | TBC1D24 | c.455T>C (p.Phe152Ser) n.637T>C | ClinVar |
16 | g.2496603T>G | CA394376081 | TBC1D24 | c.455T>G (p.Phe152Cys) n.637T>G | |
16 | g.2496604C>A | CA394376083 | TBC1D24 | c.456C>A (p.Phe152Leu) n.638C>A | |
16 | g.2496604C= | CA2202259893 | TBC1D24 | c.456C= (p.Phe152=) n.638C= | |
16 | g.2496604C>G | CA394376085 | TBC1D24 | c.456C>G (p.Phe152Leu) n.638C>G | |
16 | g.2496604C>T | CA493366724 | TBC1D24 | c.456C>T (p.Phe152=) n.638C>T | ClinVar dbSNP gnomAD v4 |
16 | g.2496605G>A | CA319022 | TBC1D24 | c.457G>A (p.Glu153Lys) n.639G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496605G>C | CA394376088 | TBC1D24 | c.457G>C (p.Glu153Gln) n.639G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496605G= | CA2202259894 | TBC1D24 | c.457G= (p.Glu153=) n.639G= | |
16 | g.2496605G>T | CA394376089 | TBC1D24 | c.457G>T (p.Glu153Ter) n.639G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496606A= | CA2202259895 | TBC1D24 | c.458A= (p.Glu153=) n.640A= | |
16 | g.2496606A>C | CA394376094 | TBC1D24 | c.458A>C (p.Glu153Ala) n.640A>C | ClinVar dbSNP |
16 | g.2496606A>G | CA394376092 | TBC1D24 | c.458A>G (p.Glu153Gly) n.640A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496606A>T | CA394376091 | TBC1D24 | c.458A>T (p.Glu153Val) n.640A>T | |
16 | g.2496607G>A | CA493366727 | TBC1D24 | c.459G>A (p.Glu153=) n.641G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496607G>C | CA394376096 | TBC1D24 | c.459G>C (p.Glu153Asp) n.641G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496607G= | CA2202259896 | TBC1D24 | c.459G= (p.Glu153=) n.641G= | |
16 | g.2496607G>T | CA394376097 | TBC1D24 | c.459G>T (p.Glu153Asp) n.641G>T | gnomAD v4 |
16 | g.2496608A>C | CA394376099 | TBC1D24 | c.460A>C (p.Lys154Gln) n.642A>C | |
16 | g.2496608A>G | CA394376100 | TBC1D24 | c.460A>G (p.Lys154Glu) n.642A>G | |
16 | g.2496608A>T | CA394376101 | TBC1D24 | c.460A>T (p.Lys154Ter) n.642A>T | |
16 | g.2496609A>C | CA394376103 | TBC1D24 | c.461A>C (p.Lys154Thr) n.643A>C | |
16 | g.2496609A>G | CA394376104 | TBC1D24 | c.461A>G (p.Lys154Arg) n.643A>G | ClinVar |
16 | g.2496609A>T | CA394376105 | TBC1D24 | c.461A>T (p.Lys154Met) n.643A>T | gnomAD v4 |
16 | g.2496609_2496624delinsAGGCCTGCCGCATCCT | CA2202259897 | TBC1D24 | c.461_476delinsAGGCCTGCCGCATCCT (p.Lys154=) n.643_658delinsAGGCCTGCCGCATCCT | |
16 | g.2496610G>A | CA493366731 | TBC1D24 | c.462G>A (p.Lys154=) n.644G>A | |
16 | g.2496610G>C | CA394376107 | TBC1D24 | c.462G>C (p.Lys154Asn) n.644G>C | |
16 | g.2496610G= | CA2202259898 | TBC1D24 | c.462G= (p.Lys154=) n.644G= | |
16 | g.2496610G>T | CA394376109 | TBC1D24 | c.462G>T (p.Lys154Asn) n.644G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496617_2496631del | CA620709060 | TBC1D24 | c.469_483del (p.Arg157_Cys161del) n.651_665del | dbSNP gnomAD v2 |
16 | g.2496611G>A | CA394376111 | TBC1D24 | c.463G>A (p.Ala155Thr) n.645G>A | |
16 | g.2496611G>C | CA394376112 | TBC1D24 | c.463G>C (p.Ala155Pro) n.645G>C | |
16 | g.2496611G>T | CA394376114 | TBC1D24 | c.463G>T (p.Ala155Ser) n.645G>T | gnomAD v4 |
16 | g.2496612C>A | CA394376118 | TBC1D24 | c.464C>A (p.Ala155Asp) n.646C>A | |
16 | g.2496612C= | CA2202259899 | TBC1D24 | c.464C= (p.Ala155=) n.646C= | |
16 | g.2496612C>G | CA394376119 | TBC1D24 | c.464C>G (p.Ala155Gly) n.646C>G | ClinVar |
16 | g.2496612C>T | CA394376116 | TBC1D24 | c.464C>T (p.Ala155Val) n.646C>T | dbSNP gnomAD v2 COSMIC |
16 | g.2496613C>A | CA493366736 | TBC1D24 | c.465C>A (p.Ala155=) n.647C>A | |
16 | g.2496613C= | CA2202259900 | TBC1D24 | c.465C= (p.Ala155=) n.647C= | |
16 | g.2496613C>G | CA493366737 | TBC1D24 | c.465C>G (p.Ala155=) n.647C>G | gnomAD v4 |
16 | g.2496613C>T | CA493366738 | TBC1D24 | c.465C>T (p.Ala155=) n.647C>T | ClinVar dbSNP |
16 | g.2496614T>A | CA394376120 | TBC1D24 | c.466T>A (p.Cys156Ser) n.648T>A | |
16 | g.2496614T>C | CA394376122 | TBC1D24 | c.466T>C (p.Cys156Arg) n.648T>C | |
16 | g.2496614T>G | CA394376124 | TBC1D24 | c.466T>G (p.Cys156Gly) n.648T>G | |
16 | g.2496615G>A | CA394376126 | TBC1D24 | c.467G>A (p.Cys156Tyr) n.649G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496615G>C | CA394376128 | TBC1D24 | c.467G>C (p.Cys156Ser) n.649G>C | gnomAD v4 |
16 | g.2496615G= | CA2202259901 | TBC1D24 | c.467G= (p.Cys156=) n.649G= | |
16 | g.2496615G>T | CA394376130 | TBC1D24 | c.467G>T (p.Cys156Phe) n.649G>T | gnomAD v4 |
16 | g.2496616C>A | CA344790 | TBC1D24 | c.468C>A (p.Cys156Ter) n.650C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496616C= | CA2202259902 | TBC1D24 | c.468C= (p.Cys156=) n.650C= | |
16 | g.2496616C>G | CA394376132 | TBC1D24 | c.468C>G (p.Cys156Trp) n.650C>G | |
16 | g.2496616C>T | CA493366741 | TBC1D24 | c.468C>T (p.Cys156=) n.650C>T | gnomAD v4 |
16 | g.2496617C>A | CA394376135 | TBC1D24 | c.469C>A (p.Arg157Ser) n.651C>A | |
16 | g.2496617C= | CA2202259903 | TBC1D24 | c.469C= (p.Arg157=) n.651C= | |
16 | g.2496617C>G | CA394376137 | TBC1D24 | c.469C>G (p.Arg157Gly) n.651C>G | |
16 | g.2496617C>T | CA276809626 | TBC1D24 | c.469C>T (p.Arg157Cys) n.651C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496618G>A | CA394376144 | TBC1D24 | c.470G>A (p.Arg157His) n.652G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496618G>C | CA394376142 | TBC1D24 | c.470G>C (p.Arg157Pro) n.652G>C | |
16 | g.2496618G= | CA2202259904 | TBC1D24 | c.470G= (p.Arg157=) n.652G= | |
16 | g.2496618G>T | CA394376141 | TBC1D24 | c.470G>T (p.Arg157Leu) n.652G>T | gnomAD v4 |
16 | g.2496619C>A | CA493366744 | TBC1D24 | c.471C>A (p.Arg157=) n.653C>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496619C= | CA2202259905 | TBC1D24 | c.471C= (p.Arg157=) n.653C= | |
16 | g.2496619C>G | CA493366745 | TBC1D24 | c.471C>G (p.Arg157=) n.653C>G | |
16 | g.2496619C>T | CA493366746 | TBC1D24 | c.471C>T (p.Arg157=) n.653C>T | |
16 | g.2496620A= | CA2202259906 | TBC1D24 | c.472A= (p.Ile158=) n.654A= | |
16 | g.2496620A>C | CA394376147 | TBC1D24 | c.472A>C (p.Ile158Leu) n.654A>C | |
16 | g.2496620A>G | CA394376149 | TBC1D24 | c.472A>G (p.Ile158Val) n.654A>G | dbSNP gnomAD v4 |
16 | g.2496620A>T | CA394376151 | TBC1D24 | c.472A>T (p.Ile158Phe) n.654A>T | |
16 | g.2496621T>A | CA394376153 | TBC1D24 | c.473T>A (p.Ile158Asn) n.655T>A | |
16 | g.2496621T>C | CA394376155 | TBC1D24 | c.473T>C (p.Ile158Thr) n.655T>C | |
16 | g.2496621T>G | CA394376156 | TBC1D24 | c.473T>G (p.Ile158Ser) n.655T>G | |
16 | g.2496621_2496622delinsTC | CA2202259907 | TBC1D24 | c.473_474delinsTC (p.Ile158=) n.655_656delinsTC | |
16 | g.2496622C>A | CA493366750 | TBC1D24 | c.474C>A (p.Ile158=) n.656C>A | dbSNP |
16 | g.2496622C= | CA2202259908 | TBC1D24 | c.474C= (p.Ile158=) n.656C= | |
16 | g.2496622C>G | CA394376160 | TBC1D24 | c.474C>G (p.Ile158Met) n.656C>G | |
16 | g.2496622C>T | CA493366754 | TBC1D24 | c.474C>T (p.Ile158=) n.656C>T | COSMIC |
16 | g.2496623del | CA319047 | TBC1D24 | c.475del (p.Leu159TrpfsTer10) n.657del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496623C>A | CA394376165 | TBC1D24 | c.475C>A (p.Leu159Met) n.657C>A | |
16 | g.2496623C>G | CA394376167 | TBC1D24 | c.475C>G (p.Leu159Val) n.657C>G | |
16 | g.2496623C>T | CA493366755 | TBC1D24 | c.475C>T (p.Leu159=) n.657C>T | |
16 | g.2496624T>A | CA394376171 | TBC1D24 | c.476T>A (p.Leu159Gln) n.658T>A | |
16 | g.2496624T>C | CA053438 | TBC1D24 | c.476T>C (p.Leu159Pro) n.658T>C | ClinVar dbSNP gnomAD v4 |
16 | g.2496624T>G | CA394376169 | TBC1D24 | c.476T>G (p.Leu159Arg) n.658T>G | |
16 | g.2496624T= | CA2202259909 | TBC1D24 | c.476T= (p.Leu159=) n.658T= | |
16 | g.2496625G>A | CA493366759 | TBC1D24 | c.477G>A (p.Leu159=) n.659G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496625G>C | CA7844007 | TBC1D24 | c.477G>C (p.Leu159=) n.659G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496625G= | CA2202259910 | TBC1D24 | c.477G= (p.Leu159=) n.659G= | |
16 | g.2496625G>T | CA493366757 | TBC1D24 | c.477G>T (p.Leu159=) n.659G>T | gnomAD v4 |
16 | g.2496626G>A | CA394376177 | TBC1D24 | c.478G>A (p.Ala160Thr) n.660G>A | dbSNP gnomAD v4 |
16 | g.2496626G>C | CA394376173 | TBC1D24 | c.478G>C (p.Ala160Pro) n.660G>C | |
16 | g.2496626G= | CA2202259911 | TBC1D24 | c.478G= (p.Ala160=) n.660G= | |
16 | g.2496626G>T | CA394376176 | TBC1D24 | c.478G>T (p.Ala160Ser) n.660G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496627C>A | CA394376179 | TBC1D24 | c.479C>A (p.Ala160Asp) n.661C>A | |
16 | g.2496627C= | CA2202259912 | TBC1D24 | c.479C= (p.Ala160=) n.661C= | |
16 | g.2496627C>G | CA394376181 | TBC1D24 | c.479C>G (p.Ala160Gly) n.661C>G | |
16 | g.2496627C>T | CA394376183 | TBC1D24 | c.479C>T (p.Ala160Val) n.661C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496628C>A | CA493366765 | TBC1D24 | c.480C>A (p.Ala160=) n.662C>A | |
16 | g.2496628C>G | CA493366766 | TBC1D24 | c.480C>G (p.Ala160=) n.662C>G | |
16 | g.2496628C>T | CA493366767 | TBC1D24 | c.480C>T (p.Ala160=) n.662C>T | |
16 | g.2496629T>A | CA394376186 | TBC1D24 | c.481T>A (p.Cys161Ser) n.663T>A | |
16 | g.2496629T>C | CA394376187 | TBC1D24 | c.481T>C (p.Cys161Arg) n.663T>C | |
16 | g.2496629T>G | CA394376189 | TBC1D24 | c.481T>G (p.Cys161Gly) n.663T>G | |
16 | g.2496630G>A | CA394376192 | TBC1D24 | c.482G>A (p.Cys161Tyr) n.664G>A | gnomAD v4 |
16 | g.2496630G>C | CA394376194 | TBC1D24 | c.482G>C (p.Cys161Ser) n.664G>C | |
16 | g.2496630G= | CA2202259913 | TBC1D24 | c.482G= (p.Cys161=) n.664G= | |
16 | g.2496630G>T | CA7844008 | TBC1D24 | c.482G>T (p.Cys161Phe) n.664G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496631C>A | CA7844009 | TBC1D24 | c.483C>A (p.Cys161Ter) n.665C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496631C= | CA2202259914 | TBC1D24 | c.483C= (p.Cys161=) n.665C= | |
16 | g.2496631C>G | CA394376198 | TBC1D24 | c.483C>G (p.Cys161Trp) n.665C>G | |
16 | g.2496631C>T | CA493366769 | TBC1D24 | c.483C>T (p.Cys161=) n.665C>T | gnomAD v4 COSMIC |
16 | g.2496632A>C | CA394376201 | TBC1D24 | c.484A>C (p.Asn162His) n.666A>C | |
16 | g.2496632A>G | CA394376203 | TBC1D24 | c.484A>G (p.Asn162Asp) n.666A>G | |
16 | g.2496632A>T | CA394376202 | TBC1D24 | c.484A>T (p.Asn162Tyr) n.666A>T | |
16 | g.2496633A= | CA2202259915 | TBC1D24 | c.485A= (p.Asn162=) n.667A= | |
16 | g.2496633A>C | CA394376207 | TBC1D24 | c.485A>C (p.Asn162Thr) n.667A>C | |
16 | g.2496633A>G | CA7844010 | TBC1D24 | c.485A>G (p.Asn162Ser) n.667A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496633A>T | CA394376209 | TBC1D24 | c.485A>T (p.Asn162Ile) n.667A>T | |
16 | g.2496634T>A | CA10647225 | TBC1D24 | c.486T>A (p.Asn162Lys) n.668T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496634T>C | CA493366773 | TBC1D24 | c.486T>C (p.Asn162=) n.668T>C | |
16 | g.2496634T>G | CA394376212 | TBC1D24 | c.486T>G (p.Asn162Lys) n.668T>G | |
16 | g.2496634T= | CA2202259916 | TBC1D24 | c.486T= (p.Asn162=) n.668T= | |
16 | g.2496635G>A | CA394376214 | TBC1D24 | c.487G>A (p.Asp163Asn) n.669G>A | |
16 | g.2496635G>C | CA394376216 | TBC1D24 | c.487G>C (p.Asp163His) n.669G>C | |
16 | g.2496635G>T | CA394376217 | TBC1D24 | c.487G>T (p.Asp163Tyr) n.669G>T | ClinVar |
16 | g.2496636A>C | CA394376219 | TBC1D24 | c.488A>C (p.Asp163Ala) n.670A>C | |
16 | g.2496636A>G | CA394376221 | TBC1D24 | c.488A>G (p.Asp163Gly) n.670A>G | COSMIC |
16 | g.2496636A>T | CA394376223 | TBC1D24 | c.488A>T (p.Asp163Val) n.670A>T | |
16 | g.2496637C>A | CA394376224 | TBC1D24 | c.489C>A (p.Asp163Glu) n.671C>A | gnomAD v4 |
16 | g.2496637C>G | CA394376225 | TBC1D24 | c.489C>G (p.Asp163Glu) n.671C>G | |
16 | g.2496637C>T | CA493366852 | TBC1D24 | c.489C>T (p.Asp163=) n.671C>T | ClinVar |
16 | g.2496638C>A | CA394376229 | TBC1D24 | c.490C>A (p.Pro164Thr) n.672C>A | |
16 | g.2496638C= | CA2202259917 | TBC1D24 | c.490C= (p.Pro164=) n.672C= | |
16 | g.2496638C>G | CA394376230 | TBC1D24 | c.490C>G (p.Pro164Ala) n.672C>G | |
16 | g.2496638C>T | CA394376233 | TBC1D24 | c.490C>T (p.Pro164Ser) n.672C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496639C>A | CA394376235 | TBC1D24 | c.491C>A (p.Pro164His) n.673C>A | |
16 | g.2496639C>G | CA394376237 | TBC1D24 | c.491C>G (p.Pro164Arg) n.673C>G | |
16 | g.2496639C>T | CA394376238 | TBC1D24 | c.491C>T (p.Pro164Leu) n.673C>T | gnomAD v4 |
16 | g.2496640C>A | CA493366855 | TBC1D24 | c.492C>A (p.Pro164=) n.674C>A | gnomAD v4 |
16 | g.2496640C= | CA2202259918 | TBC1D24 | c.492C= (p.Pro164=) n.674C= | |
16 | g.2496640C>G | CA7844012 | TBC1D24 | c.492C>G (p.Pro164=) n.674C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496640C>T | CA7844011 | TBC1D24 | c.492C>T (p.Pro164=) n.674C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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 |
16 | g.2496653A>T | CA394376296 | TBC1D24 | c.505A>T (p.Ile169Phe) n.687A>T | |
16 | g.2496654T>A | CA394376297 | TBC1D24 | c.506T>A (p.Ile169Asn) n.688T>A | |
16 | g.2496654T>C | CA394376299 | TBC1D24 | c.506T>C (p.Ile169Thr) n.688T>C | |
16 | g.2496654T>G | CA394376302 | TBC1D24 | c.506T>G (p.Ile169Ser) n.688T>G | |
16 | g.2496655_2496656insCTC | CA2202259929 | TBC1D24 | c.507_508insCTC (p.Ile169_Asp170insLeu) n.689_690insCTC | dbSNP |
16 | g.2496655C>A | CA493366884 | TBC1D24 | c.507C>A (p.Ile169=) n.689C>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496655C= | CA2202259930 | TBC1D24 | c.507C= (p.Ile169=) n.689C= | |
16 | g.2496655C>G | CA7844016 | TBC1D24 | c.507C>G (p.Ile169Met) n.689C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496655C>T | CA493366886 | TBC1D24 | c.507C>T (p.Ile169=) n.689C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496656G>A | CA394376308 | TBC1D24 | c.508G>A (p.Asp170Asn) n.690G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496656G>C | CA394376311 | TBC1D24 | c.508G>C (p.Asp170His) n.690G>C | gnomAD v4 |
16 | g.2496656G= | CA2202259931 | TBC1D24 | c.508G= (p.Asp170=) n.690G= | |
16 | g.2496656G>T | CA394376312 | TBC1D24 | c.508G>T (p.Asp170Tyr) n.690G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496657A>C | CA394376317 | TBC1D24 | c.509A>C (p.Asp170Ala) n.691A>C | |
16 | g.2496657A>G | CA394376319 | TBC1D24 | c.509A>G (p.Asp170Gly) n.691A>G | |
16 | g.2496657A>T | CA394376320 | TBC1D24 | c.509A>T (p.Asp170Val) n.691A>T | |
16 | g.2496658C>A | CA394376322 | TBC1D24 | c.510C>A (p.Asp170Glu) n.692C>A | |
16 | g.2496658C>G | CA394376324 | TBC1D24 | c.510C>G (p.Asp170Glu) n.692C>G | |
16 | g.2496658C>T | CA493366893 | TBC1D24 | c.510C>T (p.Asp170=) n.692C>T | gnomAD v4 |
16 | g.2496659C>A | CA394376327 | TBC1D24 | c.511C>A (p.Gln171Lys) n.693C>A | |
16 | g.2496659C>G | CA394376328 | TBC1D24 | c.511C>G (p.Gln171Glu) n.693C>G | gnomAD v4 |
16 | g.2496659C>T | CA394376330 | TBC1D24 | c.511C>T (p.Gln171Ter) n.693C>T | |
16 | g.2496660A>C | CA394376333 | TBC1D24 | c.512A>C (p.Gln171Pro) n.694A>C | |
16 | g.2496660A>G | CA394376334 | TBC1D24 | c.512A>G (p.Gln171Arg) n.694A>G | |
16 | g.2496660A>T | CA394376337 | TBC1D24 | c.512A>T (p.Gln171Leu) n.694A>T | |
16 | g.2496661G>A | CA493366898 | TBC1D24 | c.513G>A (p.Gln171=) n.695G>A | |
16 | g.2496661G>C | CA394376339 | TBC1D24 | c.513G>C (p.Gln171His) n.695G>C | |
16 | g.2496661G>T | CA394376341 | TBC1D24 | c.513G>T (p.Gln171His) n.695G>T | gnomAD v4 |
16 | g.2496662A>C | CA394376343 | TBC1D24 | c.514A>C (p.Ser172Arg) n.696A>C | |
16 | g.2496662A>G | CA394376345 | TBC1D24 | c.514A>G (p.Ser172Gly) n.696A>G | |
16 | g.2496662A>T | CA394376348 | TBC1D24 | c.514A>T (p.Ser172Cys) n.696A>T | |
16 | g.2496663G>A | CA394376355 | TBC1D24 | c.515G>A (p.Ser172Asn) n.697G>A | |
16 | g.2496663G>C | CA394376353 | TBC1D24 | c.515G>C (p.Ser172Thr) n.697G>C | |
16 | g.2496663G>T | CA394376351 | TBC1D24 | c.515G>T (p.Ser172Ile) n.697G>T | |
16 | g.2496664C>A | CA394376357 | TBC1D24 | c.516C>A (p.Ser172Arg) n.698C>A | |
16 | g.2496664C>G | CA394376358 | TBC1D24 | c.516C>G (p.Ser172Arg) n.698C>G | |
16 | g.2496664C>T | CA493366907 | TBC1D24 | c.516C>T (p.Ser172=) n.698C>T | |
16 | g.2496665T>A | CA394376359 | TBC1D24 | c.517T>A (p.Phe173Ile) n.699T>A | dbSNP |
16 | g.2496665T>C | CA394376360 | TBC1D24 | c.517T>C (p.Phe173Leu) n.699T>C | |
16 | g.2496665T>G | CA394376362 | TBC1D24 | c.517T>G (p.Phe173Val) n.699T>G | |
16 | g.2496665T= | CA2202259932 | TBC1D24 | c.517T= (p.Phe173=) n.699T= | |
16 | g.2496666T>A | CA394376364 | TBC1D24 | c.518T>A (p.Phe173Tyr) n.700T>A | |
16 | g.2496666T>C | CA394376365 | TBC1D24 | c.518T>C (p.Phe173Ser) n.700T>C | |
16 | g.2496666T>G | CA394376366 | TBC1D24 | c.518T>G (p.Phe173Cys) n.700T>G | |
16 | g.2496667C>A | CA394376370 | TBC1D24 | c.519C>A (p.Phe173Leu) n.701C>A | |
16 | g.2496667C= | CA2202259933 | TBC1D24 | c.519C= (p.Phe173=) n.701C= | |
16 | g.2496667C>G | CA394376372 | TBC1D24 | c.519C>G (p.Phe173Leu) n.701C>G | |
16 | g.2496667C>T | CA7844017 | TBC1D24 | c.519C>T (p.Phe173=) n.701C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496668C>A | CA394376377 | TBC1D24 | c.520C>A (p.Leu174Met) n.702C>A | |
16 | g.2496668C>G | CA394376378 | TBC1D24 | c.520C>G (p.Leu174Val) n.702C>G | ClinVar |
16 | g.2496668C>T | CA493366914 | TBC1D24 | c.520C>T (p.Leu174=) n.702C>T | |
16 | g.2496669T>A | CA394376384 | TBC1D24 | c.521T>A (p.Leu174Gln) n.703T>A | |
16 | g.2496669T>C | CA394376380 | TBC1D24 | c.521T>C (p.Leu174Pro) n.703T>C | gnomAD v4 |
16 | g.2496669T>G | CA394376382 | TBC1D24 | c.521T>G (p.Leu174Arg) n.703T>G | |
16 | g.2496670G>A | CA493366916 | TBC1D24 | c.522G>A (p.Leu174=) n.704G>A | dbSNP |
16 | g.2496670G>C | CA493366918 | TBC1D24 | c.522G>C (p.Leu174=) n.704G>C | |
16 | g.2496670G= | CA2202259934 | TBC1D24 | c.522G= (p.Leu174=) n.704G= | |
16 | g.2496670G>T | CA493366920 | TBC1D24 | c.522G>T (p.Leu174=) n.704G>T | |
16 | g.2496671G>A | CA394376386 | TBC1D24 | c.523G>A (p.Ala175Thr) n.705G>A | gnomAD v4 |
16 | g.2496671G>C | CA394376388 | TBC1D24 | c.523G>C (p.Ala175Pro) n.705G>C | ClinVar dbSNP |
16 | g.2496671G>T | CA394376391 | TBC1D24 | c.523G>T (p.Ala175Ser) n.705G>T | |
16 | g.2496672C>A | CA394376393 | TBC1D24 | c.524C>A (p.Ala175Asp) n.706C>A | ClinVar dbSNP gnomAD v4 |
16 | g.2496672C= | CA2202259935 | TBC1D24 | c.524C= (p.Ala175=) n.706C= | |
16 | g.2496672C>G | CA394376395 | TBC1D24 | c.524C>G (p.Ala175Gly) n.706C>G | ClinVar dbSNP |
16 | g.2496672C>T | CA394376397 | TBC1D24 | c.524C>T (p.Ala175Val) n.706C>T | gnomAD v4 |
16 | g.2496673C>A | CA493366927 | TBC1D24 | c.525C>A (p.Ala175=) n.707C>A | |
16 | g.2496673C>G | CA493366928 | TBC1D24 | c.525C>G (p.Ala175=) n.707C>G | |
16 | g.2496673C>T | CA493366930 | TBC1D24 | c.525C>T (p.Ala175=) n.707C>T | |
16 | g.2496674T>A | CA394376399 | TBC1D24 | c.526T>A (p.Phe176Ile) n.708T>A | |
16 | g.2496674T>C | CA394376401 | TBC1D24 | c.526T>C (p.Phe176Leu) n.708T>C | |
16 | g.2496674T>G | CA394376403 | TBC1D24 | c.526T>G (p.Phe176Val) n.708T>G | |
16 | g.2496675T>A | CA394376405 | TBC1D24 | c.527T>A (p.Phe176Tyr) n.709T>A | |
16 | g.2496675T>C | CA394376407 | TBC1D24 | c.527T>C (p.Phe176Ser) n.709T>C | |
16 | g.2496675T>G | CA394376408 | TBC1D24 | c.527T>G (p.Phe176Cys) n.709T>G | |
16 | g.2496676T>A | CA394376412 | TBC1D24 | c.528T>A (p.Phe176Leu) n.710T>A | |
16 | g.2496676T>C | CA493366936 | TBC1D24 | c.528T>C (p.Phe176=) n.710T>C | gnomAD v4 |
16 | g.2496676T>G | CA394376410 | TBC1D24 | c.528T>G (p.Phe176Leu) n.710T>G | |
16 | g.2496677G>A | CA394376414 | TBC1D24 | c.529G>A (p.Glu177Lys) n.711G>A | |
16 | g.2496677G>C | CA394376418 | TBC1D24 | c.529G>C (p.Glu177Gln) n.711G>C | |
16 | g.2496677G>T | CA394376416 | TBC1D24 | c.529G>T (p.Glu177Ter) n.711G>T | gnomAD v4 |
16 | g.2496678A= | CA2202259936 | TBC1D24 | c.530A= (p.Glu177=) n.712A= | |
16 | g.2496678A>C | CA394376419 | TBC1D24 | c.530A>C (p.Glu177Ala) n.712A>C | gnomAD v4 |
16 | g.2496678A>G | CA7844018 | TBC1D24 | c.530A>G (p.Glu177Gly) n.712A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496678A>T | CA394376421 | TBC1D24 | c.530A>T (p.Glu177Val) n.712A>T | |
16 | g.2496679G>A | CA493366940 | TBC1D24 | c.531G>A (p.Glu177=) n.713G>A | |
16 | g.2496679G>C | CA394376423 | TBC1D24 | c.531G>C (p.Glu177Asp) n.713G>C | |
16 | g.2496679G>T | CA394376425 | TBC1D24 | c.531G>T (p.Glu177Asp) n.713G>T | |
16 | g.2496680T>A | CA394376427 | TBC1D24 | c.532T>A (p.Ser178Thr) n.714T>A | |
16 | g.2496680T>C | CA394376429 | TBC1D24 | c.532T>C (p.Ser178Pro) n.714T>C | |
16 | g.2496680T>G | CA394376431 | TBC1D24 | c.532T>G (p.Ser178Ala) n.714T>G | |
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 |