Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2075486_2078656delCA2580090842TSC2c.*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
16g.2076085_2076124delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGCA2202018492TSC2c.*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=)
16g.2076089_2076127delCA915946282TSC2c.*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
16g.2076088_2076135delinsGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCA2202018518TSC2c.*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=)
16g.2076089_2076135delCA017822TSC2c.*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
16g.2076094C>ACA394279262TSC2c.*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
16g.2076094C=CA2202018564TSC2c.*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=)
16g.2076094C>GCA394279269TSC2c.*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
16g.2076094C>TCA017841TSC2c.*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
16g.2076095C>ACA492953648TSC2c.*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
16g.2076095C=CA2202018574TSC2c.*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=)
16g.2076095C>GCA492953649TSC2c.*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
16g.2076095C>TCA276741700TSC2c.*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
16g.2076096C>ACA394279273TSC2c.*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
16g.2076096C=CA2202018585TSC2c.*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=)
16g.2076096C>GCA394279275TSC2c.*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
16g.2076096C>TCA040850TSC2c.*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
16g.2076096_2076105delinsCATCACGTCACA2202018584TSC2c.*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=)
16g.2076097A>CCA394279279TSC2c.*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
16g.2076097A>GCA394279281TSC2c.*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)
16g.2076097A>TCA394279283TSC2c.*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
16g.2076097_2076098delinsATCA2202018592TSC2c.*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=)
16g.2076097_2076105delCA017844TSC2c.*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
16g.2076098delCA017855TSC2c.*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
16g.2076098T>ACA394279289TSC2c.*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)
16g.2076098T>CCA492953650TSC2c.*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
16g.2076098T>GCA394279287TSC2c.*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
16g.2076099C>ACA394279292TSC2c.*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)
16g.2076099C=CA2202018598TSC2c.*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=)
16g.2076099C>GCA394279293TSC2c.*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
16g.2076099C>TCA394279294TSC2c.*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
16g.2076100A=CA2202018608TSC2c.*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=)
16g.2076100A>CCA394279297TSC2c.*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
16g.2076100A>GCA394279298TSC2c.*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
16g.2076100A>TCA394279300TSC2c.*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
16g.2076101C>ACA394279303TSC2c.*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
16g.2076101C=CA2202018623TSC2c.*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=)
16g.2076101C>GCA394279305TSC2c.*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
16g.2076101C>TCA040864TSC2c.*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
16g.2076102G>ACA276741706TSC2c.*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
16g.2076102G>CCA394279309TSC2c.*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)
16g.2076102G=CA2202018633TSC2c.*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=)
16g.2076102G>TCA394279312TSC2c.*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)
16g.2076103T>ACA394279316TSC2c.*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
16g.2076103T>CCA394279314TSC2c.*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
16g.2076103T>GCA394279315TSC2c.*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
16g.2076104C>ACA492953653TSC2c.*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
16g.2076104C=CA2202018652TSC2c.*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=)
16g.2076104C>GCA492953654TSC2c.*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
16g.2076104C>TCA492953655TSC2c.*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

Number of alleles fetched