Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2075486_2078656del | CA2580090842 | TSC2 | c.*1093-313_*1385-376del c.2591-313_2883-376del c.2546-313_2967-379del c.*1983-313_*3416-376del c.*3287_*3892-379del c.2546-313_2967-376del c.2546-313_2838-379del c.2579-313_2871-379del c.1203-313_1624-379del c.2546-313_2838-376del c.2539-313_2960-379del n.828-313_1120-376del n.1559-313_1851-376del c.2399-313_2691-376del c.*1845-313_*2137-379del c.2435-313_2727-376del c.2435-313_2856-376del c.1946-313_2238-379del c.2708-313_3129-376del c.2708-313_3000-376del c.1202-313_1623-376del | ClinVar |
16 | g.2076085_2076124delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG | CA2202018492 | TSC2 | c.*1204_*1243delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG (n.*1204_*1243delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG) c.2702_2741delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG (p.Val901=) c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG (p.Val886=) c.*2094_*2133delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG (n.*2094_*2133delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG) c.*3711_*3750delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG (n.*3711_*3750delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG) c.2690_2729delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG (p.Val897=) c.1314_1353delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG c.2650_2689delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG n.939_978delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG n.1670_1709delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG c.2510_2549delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG (p.Val837=) c.*1956_*1995delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG (n.*1956_*1995delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG) c.2546_2585delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG (p.Val849=) c.2057_2096delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG (p.Val686=) c.2819_2858delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG (p.Val940=) c.1313_1352delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG (p.Val438=) | |
16 | g.2076089_2076127del | CA915946282 | TSC2 | c.*1208_*1246del (n.*1208_*1246del) c.2706_2744del (p.Leu903_Cys915del) c.2661_2699del (p.Leu888_Cys900del) c.*2098_*2136del (n.*2098_*2136del) c.*3715_*3753del (n.*3715_*3753del) c.2694_2732del (p.Leu899_Cys911del) c.1318_1356del c.2654_2692del n.943_981del n.1674_1712del c.2514_2552del (p.Leu839_Cys851del) c.*1960_*1998del (n.*1960_*1998del) c.2550_2588del (p.Leu851_Cys863del) c.2061_2099del (p.Leu688_Cys700del) c.2823_2861del (p.Leu942_Cys954del) c.1317_1355del (p.Leu440_Cys452del) | ClinVar dbSNP |
16 | g.2076088_2076135delinsGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGC | CA2202018518 | TSC2 | c.*1207_*1254delinsGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGC (n.*1207_*1254delinsGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGC) c.2705_2752delinsGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGC (p.Cys902=) c.2660_2707delinsGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGC (p.Cys887=) c.*2097_*2144delinsGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGC (n.*2097_*2144delinsGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGC) c.*3714_*3761delinsGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGC (n.*3714_*3761delinsGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGC) c.2693_2740delinsGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGC (p.Cys898=) c.1317_1364delinsGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGC c.2653_2700delinsGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGC n.942_989delinsGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGC n.1673_1720delinsGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGC c.2513_2560delinsGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGC (p.Cys838=) c.*1959_*2006delinsGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGC (n.*1959_*2006delinsGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGC) c.2549_2596delinsGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGC (p.Cys850=) c.2060_2107delinsGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGC (p.Cys687=) c.2822_2869delinsGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGC (p.Cys941=) c.1316_1363delinsGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGC (p.Cys439=) | |
16 | g.2076089_2076135del | CA017822 | TSC2 | c.*1208_*1254del (n.*1208_*1254del) c.2706_2752del (p.Ala904ProfsTer10) c.2661_2707del (p.Ala889ProfsTer10) c.*2098_*2144del (n.*2098_*2144del) c.*3715_*3761del (n.*3715_*3761del) c.2694_2740del (p.Ala900ProfsTer10) c.1318_1364del c.2654_2700del n.943_989del n.1674_1720del c.2514_2560del (p.Ala840ProfsTer10) c.*1960_*2006del (n.*1960_*2006del) c.2550_2596del (p.Ala852ProfsTer10) c.2061_2107del (p.Ala689ProfsTer10) c.2823_2869del (p.Ala943ProfsTer10) c.1317_1363del (p.Ala441ProfsTer10) | ClinVar dbSNP |
16 | g.2076094C>A | CA394279262 | TSC2 | c.*1213C>A (n.*1213C>A) c.2711C>A (p.Ala904Asp) c.2666C>A (p.Ala889Asp) c.*2103C>A (n.*2103C>A) c.*3720C>A (n.*3720C>A) c.2699C>A (p.Ala900Asp) c.1323C>A c.2659C>A n.948C>A n.1679C>A c.2519C>A (p.Ala840Asp) c.*1965C>A (n.*1965C>A) c.2555C>A (p.Ala852Asp) c.2066C>A (p.Ala689Asp) c.2828C>A (p.Ala943Asp) c.1322C>A (p.Ala441Asp) | dbSNP |
16 | g.2076094C= | CA2202018564 | TSC2 | c.*1213C= (n.*1213C=) c.2711C= (p.Ala904=) c.2666C= (p.Ala889=) c.*2103C= (n.*2103C=) c.*3720C= (n.*3720C=) c.2699C= (p.Ala900=) c.1323C= c.2659C= n.948C= n.1679C= c.2519C= (p.Ala840=) c.*1965C= (n.*1965C=) c.2555C= (p.Ala852=) c.2066C= (p.Ala689=) c.2828C= (p.Ala943=) c.1322C= (p.Ala441=) | |
16 | g.2076094C>G | CA394279269 | TSC2 | c.*1213C>G (n.*1213C>G) c.2711C>G (p.Ala904Gly) c.2666C>G (p.Ala889Gly) c.*2103C>G (n.*2103C>G) c.*3720C>G (n.*3720C>G) c.2699C>G (p.Ala900Gly) c.1323C>G c.2659C>G n.948C>G n.1679C>G c.2519C>G (p.Ala840Gly) c.*1965C>G (n.*1965C>G) c.2555C>G (p.Ala852Gly) c.2066C>G (p.Ala689Gly) c.2828C>G (p.Ala943Gly) c.1322C>G (p.Ala441Gly) | dbSNP |
16 | g.2076094C>T | CA017841 | TSC2 | c.*1213C>T (n.*1213C>T) c.2711C>T (p.Ala904Val) c.2666C>T (p.Ala889Val) c.*2103C>T (n.*2103C>T) c.*3720C>T (n.*3720C>T) c.2699C>T (p.Ala900Val) c.1323C>T c.2659C>T n.948C>T n.1679C>T c.2519C>T (p.Ala840Val) c.*1965C>T (n.*1965C>T) c.2555C>T (p.Ala852Val) c.2066C>T (p.Ala689Val) c.2828C>T (p.Ala943Val) c.1322C>T (p.Ala441Val) | ClinVar dbSNP |
16 | g.2076095C>A | CA492953648 | TSC2 | c.*1214C>A (n.*1214C>A) c.2712C>A (p.Ala904=) c.2667C>A (p.Ala889=) c.*2104C>A (n.*2104C>A) c.*3721C>A (n.*3721C>A) c.2700C>A (p.Ala900=) c.1324C>A c.2660C>A n.949C>A n.1680C>A c.2520C>A (p.Ala840=) c.*1966C>A (n.*1966C>A) c.2556C>A (p.Ala852=) c.2067C>A (p.Ala689=) c.2829C>A (p.Ala943=) c.1323C>A (p.Ala441=) | dbSNP |
16 | g.2076095C= | CA2202018574 | TSC2 | c.*1214C= (n.*1214C=) c.2712C= (p.Ala904=) c.2667C= (p.Ala889=) c.*2104C= (n.*2104C=) c.*3721C= (n.*3721C=) c.2700C= (p.Ala900=) c.1324C= c.2660C= n.949C= n.1680C= c.2520C= (p.Ala840=) c.*1966C= (n.*1966C=) c.2556C= (p.Ala852=) c.2067C= (p.Ala689=) c.2829C= (p.Ala943=) c.1323C= (p.Ala441=) | |
16 | g.2076095C>G | CA492953649 | TSC2 | c.*1214C>G (n.*1214C>G) c.2712C>G (p.Ala904=) c.2667C>G (p.Ala889=) c.*2104C>G (n.*2104C>G) c.*3721C>G (n.*3721C>G) c.2700C>G (p.Ala900=) c.1324C>G c.2660C>G n.949C>G n.1680C>G c.2520C>G (p.Ala840=) c.*1966C>G (n.*1966C>G) c.2556C>G (p.Ala852=) c.2067C>G (p.Ala689=) c.2829C>G (p.Ala943=) c.1323C>G (p.Ala441=) | dbSNP |
16 | g.2076095C>T | CA276741700 | TSC2 | c.*1214C>T (n.*1214C>T) c.2712C>T (p.Ala904=) c.2667C>T (p.Ala889=) c.*2104C>T (n.*2104C>T) c.*3721C>T (n.*3721C>T) c.2700C>T (p.Ala900=) c.1324C>T c.2660C>T n.949C>T n.1680C>T c.2520C>T (p.Ala840=) c.*1966C>T (n.*1966C>T) c.2556C>T (p.Ala852=) c.2067C>T (p.Ala689=) c.2829C>T (p.Ala943=) c.1323C>T (p.Ala441=) | ClinVar dbSNP |
16 | g.2076096C>A | CA394279273 | TSC2 | c.*1215C>A (n.*1215C>A) c.2713C>A (p.His905Asn) c.2668C>A (p.His890Asn) c.*2105C>A (n.*2105C>A) c.*3722C>A (n.*3722C>A) c.2701C>A (p.His901Asn) c.1325C>A c.2661C>A n.950C>A n.1681C>A c.2521C>A (p.His841Asn) c.*1967C>A (n.*1967C>A) c.2557C>A (p.His853Asn) c.2068C>A (p.His690Asn) c.2830C>A (p.His944Asn) c.1324C>A (p.His442Asn) | dbSNP |
16 | g.2076096C= | CA2202018585 | TSC2 | c.*1215C= (n.*1215C=) c.2713C= (p.His905=) c.2668C= (p.His890=) c.*2105C= (n.*2105C=) c.*3722C= (n.*3722C=) c.2701C= (p.His901=) c.1325C= c.2661C= n.950C= n.1681C= c.2521C= (p.His841=) c.*1967C= (n.*1967C=) c.2557C= (p.His853=) c.2068C= (p.His690=) c.2830C= (p.His944=) c.1324C= (p.His442=) | |
16 | g.2076096C>G | CA394279275 | TSC2 | c.*1215C>G (n.*1215C>G) c.2713C>G (p.His905Asp) c.2668C>G (p.His890Asp) c.*2105C>G (n.*2105C>G) c.*3722C>G (n.*3722C>G) c.2701C>G (p.His901Asp) c.1325C>G c.2661C>G n.950C>G n.1681C>G c.2521C>G (p.His841Asp) c.*1967C>G (n.*1967C>G) c.2557C>G (p.His853Asp) c.2068C>G (p.His690Asp) c.2830C>G (p.His944Asp) c.1324C>G (p.His442Asp) | gnomAD v4 |
16 | g.2076096C>T | CA040850 | TSC2 | c.*1215C>T (n.*1215C>T) c.2713C>T (p.His905Tyr) c.2668C>T (p.His890Tyr) c.*2105C>T (n.*2105C>T) c.*3722C>T (n.*3722C>T) c.2701C>T (p.His901Tyr) c.1325C>T c.2661C>T n.950C>T n.1681C>T c.2521C>T (p.His841Tyr) c.*1967C>T (n.*1967C>T) c.2557C>T (p.His853Tyr) c.2068C>T (p.His690Tyr) c.2830C>T (p.His944Tyr) c.1324C>T (p.His442Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2076096_2076105delinsCATCACGTCA | CA2202018584 | TSC2 | c.*1215_*1224delinsCATCACGTCA (n.*1215_*1224delinsCATCACGTCA) c.2713_2722delinsCATCACGTCA (p.His905=) c.2668_2677delinsCATCACGTCA (p.His890=) c.*2105_*2114delinsCATCACGTCA (n.*2105_*2114delinsCATCACGTCA) c.*3722_*3731delinsCATCACGTCA (n.*3722_*3731delinsCATCACGTCA) c.2701_2710delinsCATCACGTCA (p.His901=) c.1325_1334delinsCATCACGTCA c.2661_2670delinsCATCACGTCA n.950_959delinsCATCACGTCA n.1681_1690delinsCATCACGTCA c.2521_2530delinsCATCACGTCA (p.His841=) c.*1967_*1976delinsCATCACGTCA (n.*1967_*1976delinsCATCACGTCA) c.2557_2566delinsCATCACGTCA (p.His853=) c.2068_2077delinsCATCACGTCA (p.His690=) c.2830_2839delinsCATCACGTCA (p.His944=) c.1324_1333delinsCATCACGTCA (p.His442=) | |
16 | g.2076097A>C | CA394279279 | TSC2 | c.*1216A>C (n.*1216A>C) c.2714A>C (p.His905Pro) c.2669A>C (p.His890Pro) c.*2106A>C (n.*2106A>C) c.*3723A>C (n.*3723A>C) c.2702A>C (p.His901Pro) c.1326A>C c.2662A>C n.951A>C n.1682A>C c.2522A>C (p.His841Pro) c.*1968A>C (n.*1968A>C) c.2558A>C (p.His853Pro) c.2069A>C (p.His690Pro) c.2831A>C (p.His944Pro) c.1325A>C (p.His442Pro) | dbSNP |
16 | g.2076097A>G | CA394279281 | TSC2 | c.*1216A>G (n.*1216A>G) c.2714A>G (p.His905Arg) c.2669A>G (p.His890Arg) c.*2106A>G (n.*2106A>G) c.*3723A>G (n.*3723A>G) c.2702A>G (p.His901Arg) c.1326A>G c.2662A>G n.951A>G n.1682A>G c.2522A>G (p.His841Arg) c.*1968A>G (n.*1968A>G) c.2558A>G (p.His853Arg) c.2069A>G (p.His690Arg) c.2831A>G (p.His944Arg) c.1325A>G (p.His442Arg) | |
16 | g.2076097A>T | CA394279283 | TSC2 | c.*1216A>T (n.*1216A>T) c.2714A>T (p.His905Leu) c.2669A>T (p.His890Leu) c.*2106A>T (n.*2106A>T) c.*3723A>T (n.*3723A>T) c.2702A>T (p.His901Leu) c.1326A>T c.2662A>T n.951A>T n.1682A>T c.2522A>T (p.His841Leu) c.*1968A>T (n.*1968A>T) c.2558A>T (p.His853Leu) c.2069A>T (p.His690Leu) c.2831A>T (p.His944Leu) c.1325A>T (p.His442Leu) | dbSNP |
16 | g.2076097_2076098delinsAT | CA2202018592 | TSC2 | c.*1216_*1217delinsAT (n.*1216_*1217delinsAT) c.2714_2715delinsAT (p.His905=) c.2669_2670delinsAT (p.His890=) c.*2106_*2107delinsAT (n.*2106_*2107delinsAT) c.*3723_*3724delinsAT (n.*3723_*3724delinsAT) c.2702_2703delinsAT (p.His901=) c.1326_1327delinsAT c.2662_2663delinsAT n.951_952delinsAT n.1682_1683delinsAT c.2522_2523delinsAT (p.His841=) c.*1968_*1969delinsAT (n.*1968_*1969delinsAT) c.2558_2559delinsAT (p.His853=) c.2069_2070delinsAT (p.His690=) c.2831_2832delinsAT (p.His944=) c.1325_1326delinsAT (p.His442=) | |
16 | g.2076097_2076105del | CA017844 | TSC2 | c.*1216_*1224del (n.*1216_*1224del) c.2714_2722del (p.His905_Ile908delinsLeu) c.2669_2677del (p.His890_Ile893delinsLeu) c.*2106_*2114del (n.*2106_*2114del) c.*3723_*3731del (n.*3723_*3731del) c.2702_2710del (p.His901_Ile904delinsLeu) c.1326_1334del c.2662_2670del n.951_959del n.1682_1690del c.2522_2530del (p.His841_Ile844delinsLeu) c.*1968_*1976del (n.*1968_*1976del) c.2558_2566del (p.His853_Ile856delinsLeu) c.2069_2077del (p.His690_Ile693delinsLeu) c.2831_2839del (p.His944_Ile947delinsLeu) c.1325_1333del (p.His442_Ile445delinsLeu) | ClinVar dbSNP |
16 | g.2076098del | CA017855 | TSC2 | c.*1217del (n.*1217del) c.2715del (p.His906ThrfsTer3) c.2670del (p.His891ThrfsTer3) c.*2107del (n.*2107del) c.*3724del (n.*3724del) c.2703del (p.His902ThrfsTer3) c.1327del c.2663del n.952del n.1683del c.2523del (p.His842ThrfsTer3) c.*1969del (n.*1969del) c.2559del (p.His854ThrfsTer3) c.2070del (p.His691ThrfsTer3) c.2832del (p.His945ThrfsTer3) c.1326del (p.His443ThrfsTer3) | ClinVar dbSNP |
16 | g.2076098T>A | CA394279289 | TSC2 | c.*1217T>A (n.*1217T>A) c.2715T>A (p.His905Gln) c.2670T>A (p.His890Gln) c.*2107T>A (n.*2107T>A) c.*3724T>A (n.*3724T>A) c.2703T>A (p.His901Gln) c.1327T>A c.2663T>A n.952T>A n.1683T>A c.2523T>A (p.His841Gln) c.*1969T>A (n.*1969T>A) c.2559T>A (p.His853Gln) c.2070T>A (p.His690Gln) c.2832T>A (p.His944Gln) c.1326T>A (p.His442Gln) | |
16 | g.2076098T>C | CA492953650 | TSC2 | c.*1217T>C (n.*1217T>C) c.2715T>C (p.His905=) c.2670T>C (p.His890=) c.*2107T>C (n.*2107T>C) c.*3724T>C (n.*3724T>C) c.2703T>C (p.His901=) c.1327T>C c.2663T>C n.952T>C n.1683T>C c.2523T>C (p.His841=) c.*1969T>C (n.*1969T>C) c.2559T>C (p.His853=) c.2070T>C (p.His690=) c.2832T>C (p.His944=) c.1326T>C (p.His442=) | gnomAD v4 |
16 | g.2076098T>G | CA394279287 | TSC2 | c.*1217T>G (n.*1217T>G) c.2715T>G (p.His905Gln) c.2670T>G (p.His890Gln) c.*2107T>G (n.*2107T>G) c.*3724T>G (n.*3724T>G) c.2703T>G (p.His901Gln) c.1327T>G c.2663T>G n.952T>G n.1683T>G c.2523T>G (p.His841Gln) c.*1969T>G (n.*1969T>G) c.2559T>G (p.His853Gln) c.2070T>G (p.His690Gln) c.2832T>G (p.His944Gln) c.1326T>G (p.His442Gln) | dbSNP |
16 | g.2076099C>A | CA394279292 | TSC2 | c.*1218C>A (n.*1218C>A) c.2716C>A (p.His906Asn) c.2671C>A (p.His891Asn) c.*2108C>A (n.*2108C>A) c.*3725C>A (n.*3725C>A) c.2704C>A (p.His902Asn) c.1328C>A c.2664C>A n.953C>A n.1684C>A c.2524C>A (p.His842Asn) c.*1970C>A (n.*1970C>A) c.2560C>A (p.His854Asn) c.2071C>A (p.His691Asn) c.2833C>A (p.His945Asn) c.1327C>A (p.His443Asn) | |
16 | g.2076099C= | CA2202018598 | TSC2 | c.*1218C= (n.*1218C=) c.2716C= (p.His906=) c.2671C= (p.His891=) c.*2108C= (n.*2108C=) c.*3725C= (n.*3725C=) c.2704C= (p.His902=) c.1328C= c.2664C= n.953C= n.1684C= c.2524C= (p.His842=) c.*1970C= (n.*1970C=) c.2560C= (p.His854=) c.2071C= (p.His691=) c.2833C= (p.His945=) c.1327C= (p.His443=) | |
16 | g.2076099C>G | CA394279293 | TSC2 | c.*1218C>G (n.*1218C>G) c.2716C>G (p.His906Asp) c.2671C>G (p.His891Asp) c.*2108C>G (n.*2108C>G) c.*3725C>G (n.*3725C>G) c.2704C>G (p.His902Asp) c.1328C>G c.2664C>G n.953C>G n.1684C>G c.2524C>G (p.His842Asp) c.*1970C>G (n.*1970C>G) c.2560C>G (p.His854Asp) c.2071C>G (p.His691Asp) c.2833C>G (p.His945Asp) c.1327C>G (p.His443Asp) | dbSNP |
16 | g.2076099C>T | CA394279294 | TSC2 | c.*1218C>T (n.*1218C>T) c.2716C>T (p.His906Tyr) c.2671C>T (p.His891Tyr) c.*2108C>T (n.*2108C>T) c.*3725C>T (n.*3725C>T) c.2704C>T (p.His902Tyr) c.1328C>T c.2664C>T n.953C>T n.1684C>T c.2524C>T (p.His842Tyr) c.*1970C>T (n.*1970C>T) c.2560C>T (p.His854Tyr) c.2071C>T (p.His691Tyr) c.2833C>T (p.His945Tyr) c.1327C>T (p.His443Tyr) | ClinVar dbSNP |
16 | g.2076100A= | CA2202018608 | TSC2 | c.*1219A= (n.*1219A=) c.2717A= (p.His906=) c.2672A= (p.His891=) c.*2109A= (n.*2109A=) c.*3726A= (n.*3726A=) c.2705A= (p.His902=) c.1329A= c.2665A= n.954A= n.1685A= c.2525A= (p.His842=) c.*1971A= (n.*1971A=) c.2561A= (p.His854=) c.2072A= (p.His691=) c.2834A= (p.His945=) c.1328A= (p.His443=) | |
16 | g.2076100A>C | CA394279297 | TSC2 | c.*1219A>C (n.*1219A>C) c.2717A>C (p.His906Pro) c.2672A>C (p.His891Pro) c.*2109A>C (n.*2109A>C) c.*3726A>C (n.*3726A>C) c.2705A>C (p.His902Pro) c.1329A>C c.2665A>C n.954A>C n.1685A>C c.2525A>C (p.His842Pro) c.*1971A>C (n.*1971A>C) c.2561A>C (p.His854Pro) c.2072A>C (p.His691Pro) c.2834A>C (p.His945Pro) c.1328A>C (p.His443Pro) | dbSNP |
16 | g.2076100A>G | CA394279298 | TSC2 | c.*1219A>G (n.*1219A>G) c.2717A>G (p.His906Arg) c.2672A>G (p.His891Arg) c.*2109A>G (n.*2109A>G) c.*3726A>G (n.*3726A>G) c.2705A>G (p.His902Arg) c.1329A>G c.2665A>G n.954A>G n.1685A>G c.2525A>G (p.His842Arg) c.*1971A>G (n.*1971A>G) c.2561A>G (p.His854Arg) c.2072A>G (p.His691Arg) c.2834A>G (p.His945Arg) c.1328A>G (p.His443Arg) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2076100A>T | CA394279300 | TSC2 | c.*1219A>T (n.*1219A>T) c.2717A>T (p.His906Leu) c.2672A>T (p.His891Leu) c.*2109A>T (n.*2109A>T) c.*3726A>T (n.*3726A>T) c.2705A>T (p.His902Leu) c.1329A>T c.2665A>T n.954A>T n.1685A>T c.2525A>T (p.His842Leu) c.*1971A>T (n.*1971A>T) c.2561A>T (p.His854Leu) c.2072A>T (p.His691Leu) c.2834A>T (p.His945Leu) c.1328A>T (p.His443Leu) | dbSNP |
16 | g.2076101C>A | CA394279303 | TSC2 | c.*1220C>A (n.*1220C>A) c.2718C>A (p.His906Gln) c.2673C>A (p.His891Gln) c.*2110C>A (n.*2110C>A) c.*3727C>A (n.*3727C>A) c.2706C>A (p.His902Gln) c.1330C>A c.2666C>A n.955C>A n.1686C>A c.2526C>A (p.His842Gln) c.*1972C>A (n.*1972C>A) c.2562C>A (p.His854Gln) c.2073C>A (p.His691Gln) c.2835C>A (p.His945Gln) c.1329C>A (p.His443Gln) | gnomAD v4 |
16 | g.2076101C= | CA2202018623 | TSC2 | c.*1220C= (n.*1220C=) c.2718C= (p.His906=) c.2673C= (p.His891=) c.*2110C= (n.*2110C=) c.*3727C= (n.*3727C=) c.2706C= (p.His902=) c.1330C= c.2666C= n.955C= n.1686C= c.2526C= (p.His842=) c.*1972C= (n.*1972C=) c.2562C= (p.His854=) c.2073C= (p.His691=) c.2835C= (p.His945=) c.1329C= (p.His443=) | |
16 | g.2076101C>G | CA394279305 | TSC2 | c.*1220C>G (n.*1220C>G) c.2718C>G (p.His906Gln) c.2673C>G (p.His891Gln) c.*2110C>G (n.*2110C>G) c.*3727C>G (n.*3727C>G) c.2706C>G (p.His902Gln) c.1330C>G c.2666C>G n.955C>G n.1686C>G c.2526C>G (p.His842Gln) c.*1972C>G (n.*1972C>G) c.2562C>G (p.His854Gln) c.2073C>G (p.His691Gln) c.2835C>G (p.His945Gln) c.1329C>G (p.His443Gln) | dbSNP |
16 | g.2076101C>T | CA040864 | TSC2 | c.*1220C>T (n.*1220C>T) c.2718C>T (p.His906=) c.2673C>T (p.His891=) c.*2110C>T (n.*2110C>T) c.*3727C>T (n.*3727C>T) c.2706C>T (p.His902=) c.1330C>T c.2666C>T n.955C>T n.1686C>T c.2526C>T (p.His842=) c.*1972C>T (n.*1972C>T) c.2562C>T (p.His854=) c.2073C>T (p.His691=) c.2835C>T (p.His945=) c.1329C>T (p.His443=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.2076102G>A | CA276741706 | TSC2 | c.*1221G>A (n.*1221G>A) c.2719G>A (p.Val907Ile) c.2674G>A (p.Val892Ile) c.*2111G>A (n.*2111G>A) c.*3728G>A (n.*3728G>A) c.2707G>A (p.Val903Ile) c.1331G>A c.2667G>A n.956G>A n.1687G>A c.2527G>A (p.Val843Ile) c.*1973G>A (n.*1973G>A) c.2563G>A (p.Val855Ile) c.2074G>A (p.Val692Ile) c.2836G>A (p.Val946Ile) c.1330G>A (p.Val444Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2076102G>C | CA394279309 | TSC2 | c.*1221G>C (n.*1221G>C) c.2719G>C (p.Val907Leu) c.2674G>C (p.Val892Leu) c.*2111G>C (n.*2111G>C) c.*3728G>C (n.*3728G>C) c.2707G>C (p.Val903Leu) c.1331G>C c.2667G>C n.956G>C n.1687G>C c.2527G>C (p.Val843Leu) c.*1973G>C (n.*1973G>C) c.2563G>C (p.Val855Leu) c.2074G>C (p.Val692Leu) c.2836G>C (p.Val946Leu) c.1330G>C (p.Val444Leu) | |
16 | g.2076102G= | CA2202018633 | TSC2 | c.*1221G= (n.*1221G=) c.2719G= (p.Val907=) c.2674G= (p.Val892=) c.*2111G= (n.*2111G=) c.*3728G= (n.*3728G=) c.2707G= (p.Val903=) c.1331G= c.2667G= n.956G= n.1687G= c.2527G= (p.Val843=) c.*1973G= (n.*1973G=) c.2563G= (p.Val855=) c.2074G= (p.Val692=) c.2836G= (p.Val946=) c.1330G= (p.Val444=) | |
16 | g.2076102G>T | CA394279312 | TSC2 | c.*1221G>T (n.*1221G>T) c.2719G>T (p.Val907Phe) c.2674G>T (p.Val892Phe) c.*2111G>T (n.*2111G>T) c.*3728G>T (n.*3728G>T) c.2707G>T (p.Val903Phe) c.1331G>T c.2667G>T n.956G>T n.1687G>T c.2527G>T (p.Val843Phe) c.*1973G>T (n.*1973G>T) c.2563G>T (p.Val855Phe) c.2074G>T (p.Val692Phe) c.2836G>T (p.Val946Phe) c.1330G>T (p.Val444Phe) | |
16 | g.2076103T>A | CA394279316 | TSC2 | c.*1222T>A (n.*1222T>A) c.2720T>A (p.Val907Asp) c.2675T>A (p.Val892Asp) c.*2112T>A (n.*2112T>A) c.*3729T>A (n.*3729T>A) c.2708T>A (p.Val903Asp) c.1332T>A c.2668T>A n.957T>A n.1688T>A c.2528T>A (p.Val843Asp) c.*1974T>A (n.*1974T>A) c.2564T>A (p.Val855Asp) c.2075T>A (p.Val692Asp) c.2837T>A (p.Val946Asp) c.1331T>A (p.Val444Asp) | dbSNP |
16 | g.2076103T>C | CA394279314 | TSC2 | c.*1222T>C (n.*1222T>C) c.2720T>C (p.Val907Ala) c.2675T>C (p.Val892Ala) c.*2112T>C (n.*2112T>C) c.*3729T>C (n.*3729T>C) c.2708T>C (p.Val903Ala) c.1332T>C c.2668T>C n.957T>C n.1688T>C c.2528T>C (p.Val843Ala) c.*1974T>C (n.*1974T>C) c.2564T>C (p.Val855Ala) c.2075T>C (p.Val692Ala) c.2837T>C (p.Val946Ala) c.1331T>C (p.Val444Ala) | dbSNP |
16 | g.2076103T>G | CA394279315 | TSC2 | c.*1222T>G (n.*1222T>G) c.2720T>G (p.Val907Gly) c.2675T>G (p.Val892Gly) c.*2112T>G (n.*2112T>G) c.*3729T>G (n.*3729T>G) c.2708T>G (p.Val903Gly) c.1332T>G c.2668T>G n.957T>G n.1688T>G c.2528T>G (p.Val843Gly) c.*1974T>G (n.*1974T>G) c.2564T>G (p.Val855Gly) c.2075T>G (p.Val692Gly) c.2837T>G (p.Val946Gly) c.1331T>G (p.Val444Gly) | dbSNP |
16 | g.2076104C>A | CA492953653 | TSC2 | c.*1223C>A (n.*1223C>A) c.2721C>A (p.Val907=) c.2676C>A (p.Val892=) c.*2113C>A (n.*2113C>A) c.*3730C>A (n.*3730C>A) c.2709C>A (p.Val903=) c.1333C>A c.2669C>A n.958C>A n.1689C>A c.2529C>A (p.Val843=) c.*1975C>A (n.*1975C>A) c.2565C>A (p.Val855=) c.2076C>A (p.Val692=) c.2838C>A (p.Val946=) c.1332C>A (p.Val444=) | dbSNP |
16 | g.2076104C= | CA2202018652 | TSC2 | c.*1223C= (n.*1223C=) c.2721C= (p.Val907=) c.2676C= (p.Val892=) c.*2113C= (n.*2113C=) c.*3730C= (n.*3730C=) c.2709C= (p.Val903=) c.1333C= c.2669C= n.958C= n.1689C= c.2529C= (p.Val843=) c.*1975C= (n.*1975C=) c.2565C= (p.Val855=) c.2076C= (p.Val692=) c.2838C= (p.Val946=) c.1332C= (p.Val444=) | |
16 | g.2076104C>G | CA492953654 | TSC2 | c.*1223C>G (n.*1223C>G) c.2721C>G (p.Val907=) c.2676C>G (p.Val892=) c.*2113C>G (n.*2113C>G) c.*3730C>G (n.*3730C>G) c.2709C>G (p.Val903=) c.1333C>G c.2669C>G n.958C>G n.1689C>G c.2529C>G (p.Val843=) c.*1975C>G (n.*1975C>G) c.2565C>G (p.Val855=) c.2076C>G (p.Val692=) c.2838C>G (p.Val946=) c.1332C>G (p.Val444=) | dbSNP |
16 | g.2076104C>T | CA492953655 | TSC2 | c.*1223C>T (n.*1223C>T) c.2721C>T (p.Val907=) c.2676C>T (p.Val892=) c.*2113C>T (n.*2113C>T) c.*3730C>T (n.*3730C>T) c.2709C>T (p.Val903=) c.1333C>T c.2669C>T n.958C>T n.1689C>T c.2529C>T (p.Val843=) c.*1975C>T (n.*1975C>T) c.2565C>T (p.Val855=) c.2076C>T (p.Val692=) c.2838C>T (p.Val946=) c.1332C>T (p.Val444=) | dbSNP |