WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.2076088_2076089del | CA017812 | TSC2 | c.*1207_*1208del (n.*1207_*1208del) c.2705_2706del (p.Cys902SerfsTer27) c.2660_2661del (p.Cys887SerfsTer27) c.*2097_*2098del (n.*2097_*2098del) c.*3714_*3715del (n.*3714_*3715del) c.2693_2694del (p.Cys898SerfsTer27) c.1317_1318del c.*2162_*2163del (n.*2162_*2163del) c.2653_2654del n.942_943del n.1673_1674del c.2513_2514del (p.Cys838SerfsTer27) c.*1959_*1960del (n.*1959_*1960del) c.2549_2550del (p.Cys850SerfsTer27) c.2060_2061del (p.Cys687SerfsTer27) c.2822_2823del (p.Cys941SerfsTer27) c.1316_1317del (p.Cys439SerfsTer27) | ClinVar dbSNP |
| 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.2076086_2076090delinsGTGTC | CA2202018496 | TSC2 | c.*1205_*1209delinsGTGTC (n.*1205_*1209delinsGTGTC) c.2703_2707delinsGTGTC (p.Val901=) c.2658_2662delinsGTGTC (p.Val886=) c.*2095_*2099delinsGTGTC (n.*2095_*2099delinsGTGTC) c.*3712_*3716delinsGTGTC (n.*3712_*3716delinsGTGTC) c.2691_2695delinsGTGTC (p.Val897=) c.1315_1319delinsGTGTC c.*2160_*2164delinsGTGTC (n.*2160_*2164delinsGTGTC) c.2651_2655delinsGTGTC n.940_944delinsGTGTC n.1671_1675delinsGTGTC c.2511_2515delinsGTGTC (p.Val837=) c.*1957_*1961delinsGTGTC (n.*1957_*1961delinsGTGTC) c.2547_2551delinsGTGTC (p.Val849=) c.2058_2062delinsGTGTC (p.Val686=) c.2820_2824delinsGTGTC (p.Val940=) c.1314_1318delinsGTGTC (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.2076089_2076092del | CA16615082 | TSC2 | c.*1208_*1211del (n.*1208_*1211del) c.2706_2709del (p.Cys902TrpfsTer6) c.2661_2664del (p.Cys887TrpfsTer6) c.*2098_*2101del (n.*2098_*2101del) c.*3715_*3718del (n.*3715_*3718del) c.2694_2697del (p.Cys898TrpfsTer6) c.1318_1321del c.*2163_*2166del (n.*2163_*2166del) c.2654_2657del n.943_946del n.1674_1677del c.2514_2517del (p.Cys838TrpfsTer6) c.*1960_*1963del (n.*1960_*1963del) c.2550_2553del (p.Cys850TrpfsTer6) c.2061_2064del (p.Cys687TrpfsTer6) c.2823_2826del (p.Cys941TrpfsTer6) c.1317_1320del (p.Cys439TrpfsTer6) | 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.2076089T>A | CA017829 | TSC2 | c.*1208T>A (n.*1208T>A) c.2706T>A (p.Cys902Ter) c.2661T>A (p.Cys887Ter) c.*2098T>A (n.*2098T>A) c.*3715T>A (n.*3715T>A) c.2694T>A (p.Cys898Ter) c.1318T>A c.*2163T>A (n.*2163T>A) c.2654T>A n.943T>A n.1674T>A c.2514T>A (p.Cys838Ter) c.*1960T>A (n.*1960T>A) c.2550T>A (p.Cys850Ter) c.2061T>A (p.Cys687Ter) c.2823T>A (p.Cys941Ter) c.1317T>A (p.Cys439Ter) | ClinVar dbSNP |
| 16 | g.2076089T>C | CA492953644 | TSC2 | c.*1208T>C (n.*1208T>C) c.2706T>C (p.Cys902=) c.2661T>C (p.Cys887=) c.*2098T>C (n.*2098T>C) c.*3715T>C (n.*3715T>C) c.2694T>C (p.Cys898=) c.1318T>C c.*2163T>C (n.*2163T>C) c.2654T>C n.943T>C n.1674T>C c.2514T>C (p.Cys838=) c.*1960T>C (n.*1960T>C) c.2550T>C (p.Cys850=) c.2061T>C (p.Cys687=) c.2823T>C (p.Cys941=) c.1317T>C (p.Cys439=) | dbSNP |
| 16 | g.2076089T>G | CA394279243 | TSC2 | c.*1208T>G (n.*1208T>G) c.2706T>G (p.Cys902Trp) c.2661T>G (p.Cys887Trp) c.*2098T>G (n.*2098T>G) c.*3715T>G (n.*3715T>G) c.2694T>G (p.Cys898Trp) c.1318T>G c.*2163T>G (n.*2163T>G) c.2654T>G n.943T>G n.1674T>G c.2514T>G (p.Cys838Trp) c.*1960T>G (n.*1960T>G) c.2550T>G (p.Cys850Trp) c.2061T>G (p.Cys687Trp) c.2823T>G (p.Cys941Trp) c.1317T>G (p.Cys439Trp) | dbSNP |
| 16 | g.2076089T= | CA2202018529 | TSC2 | c.*1208T= (n.*1208T=) c.2706T= (p.Cys902=) c.2661T= (p.Cys887=) c.*2098T= (n.*2098T=) c.*3715T= (n.*3715T=) c.2694T= (p.Cys898=) c.1318T= c.*2163T= (n.*2163T=) c.2654T= n.943T= n.1674T= c.2514T= (p.Cys838=) c.*1960T= (n.*1960T=) c.2550T= (p.Cys850=) c.2061T= (p.Cys687=) c.2823T= (p.Cys941=) c.1317T= (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.2076090C>A | CA394279247 | TSC2 | c.*1209C>A (n.*1209C>A) c.2707C>A (p.Leu903Met) c.2662C>A (p.Leu888Met) c.*2099C>A (n.*2099C>A) c.*3716C>A (n.*3716C>A) c.2695C>A (p.Leu899Met) c.1319C>A c.*2164C>A (n.*2164C>A) c.2655C>A n.944C>A n.1675C>A c.2515C>A (p.Leu839Met) c.*1961C>A (n.*1961C>A) c.2551C>A (p.Leu851Met) c.2062C>A (p.Leu688Met) c.2824C>A (p.Leu942Met) c.1318C>A (p.Leu440Met) | ClinVar dbSNP |
| 16 | g.2076090C= | CA2202018543 | TSC2 | c.*1209C= (n.*1209C=) c.2707C= (p.Leu903=) c.2662C= (p.Leu888=) c.*2099C= (n.*2099C=) c.*3716C= (n.*3716C=) c.2695C= (p.Leu899=) c.1319C= c.*2164C= (n.*2164C=) c.2655C= n.944C= n.1675C= c.2515C= (p.Leu839=) c.*1961C= (n.*1961C=) c.2551C= (p.Leu851=) c.2062C= (p.Leu688=) c.2824C= (p.Leu942=) c.1318C= (p.Leu440=) | |
| 16 | g.2076090C>G | CA394279249 | TSC2 | c.*1209C>G (n.*1209C>G) c.2707C>G (p.Leu903Val) c.2662C>G (p.Leu888Val) c.*2099C>G (n.*2099C>G) c.*3716C>G (n.*3716C>G) c.2695C>G (p.Leu899Val) c.1319C>G c.*2164C>G (n.*2164C>G) c.2655C>G n.944C>G n.1675C>G c.2515C>G (p.Leu839Val) c.*1961C>G (n.*1961C>G) c.2551C>G (p.Leu851Val) c.2062C>G (p.Leu688Val) c.2824C>G (p.Leu942Val) c.1318C>G (p.Leu440Val) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2076090C>T | CA040839 | TSC2 | c.*1209C>T (n.*1209C>T) c.2707C>T (p.Leu903=) c.2662C>T (p.Leu888=) c.*2099C>T (n.*2099C>T) c.*3716C>T (n.*3716C>T) c.2695C>T (p.Leu899=) c.1319C>T c.*2164C>T (n.*2164C>T) c.2655C>T n.944C>T n.1675C>T c.2515C>T (p.Leu839=) c.*1961C>T (n.*1961C>T) c.2551C>T (p.Leu851=) c.2062C>T (p.Leu688=) c.2824C>T (p.Leu942=) c.1318C>T (p.Leu440=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2076091T>A | CA394279253 | TSC2 | c.*1210T>A (n.*1210T>A) c.2708T>A (p.Leu903Gln) c.2663T>A (p.Leu888Gln) c.*2100T>A (n.*2100T>A) c.*3717T>A (n.*3717T>A) c.2696T>A (p.Leu899Gln) c.1320T>A c.*2165T>A (n.*2165T>A) c.2656T>A n.945T>A n.1676T>A c.2516T>A (p.Leu839Gln) c.*1962T>A (n.*1962T>A) c.2552T>A (p.Leu851Gln) c.2063T>A (p.Leu688Gln) c.2825T>A (p.Leu942Gln) c.1319T>A (p.Leu440Gln) | |
| 16 | g.2076091T>C | CA394279255 | TSC2 | c.*1210T>C (n.*1210T>C) c.2708T>C (p.Leu903Pro) c.2663T>C (p.Leu888Pro) c.*2100T>C (n.*2100T>C) c.*3717T>C (n.*3717T>C) c.2696T>C (p.Leu899Pro) c.1320T>C c.*2165T>C (n.*2165T>C) c.2656T>C n.945T>C n.1676T>C c.2516T>C (p.Leu839Pro) c.*1962T>C (n.*1962T>C) c.2552T>C (p.Leu851Pro) c.2063T>C (p.Leu688Pro) c.2825T>C (p.Leu942Pro) c.1319T>C (p.Leu440Pro) | |
| 16 | g.2076091T>G | CA394279256 | TSC2 | c.*1210T>G (n.*1210T>G) c.2708T>G (p.Leu903Arg) c.2663T>G (p.Leu888Arg) c.*2100T>G (n.*2100T>G) c.*3717T>G (n.*3717T>G) c.2696T>G (p.Leu899Arg) c.1320T>G c.*2165T>G (n.*2165T>G) c.2656T>G n.945T>G n.1676T>G c.2516T>G (p.Leu839Arg) c.*1962T>G (n.*1962T>G) c.2552T>G (p.Leu851Arg) c.2063T>G (p.Leu688Arg) c.2825T>G (p.Leu942Arg) c.1319T>G (p.Leu440Arg) | |
| 16 | g.2076092G>A | CA492953645 | TSC2 | c.*1211G>A (n.*1211G>A) c.2709G>A (p.Leu903=) c.2664G>A (p.Leu888=) c.*2101G>A (n.*2101G>A) c.*3718G>A (n.*3718G>A) c.2697G>A (p.Leu899=) c.1321G>A c.*2166G>A (n.*2166G>A) c.2657G>A n.946G>A n.1677G>A c.2517G>A (p.Leu839=) c.*1963G>A (n.*1963G>A) c.2553G>A (p.Leu851=) c.2064G>A (p.Leu688=) c.2826G>A (p.Leu942=) c.1320G>A (p.Leu440=) | dbSNP |
| 16 | g.2076092G>C | CA492953646 | TSC2 | c.*1211G>C (n.*1211G>C) c.2709G>C (p.Leu903=) c.2664G>C (p.Leu888=) c.*2101G>C (n.*2101G>C) c.*3718G>C (n.*3718G>C) c.2697G>C (p.Leu899=) c.1321G>C c.*2166G>C (n.*2166G>C) c.2657G>C n.946G>C n.1677G>C c.2517G>C (p.Leu839=) c.*1963G>C (n.*1963G>C) c.2553G>C (p.Leu851=) c.2064G>C (p.Leu688=) c.2826G>C (p.Leu942=) c.1320G>C (p.Leu440=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2076092G= | CA2202018546 | TSC2 | c.*1211G= (n.*1211G=) c.2709G= (p.Leu903=) c.2664G= (p.Leu888=) c.*2101G= (n.*2101G=) c.*3718G= (n.*3718G=) c.2697G= (p.Leu899=) c.1321G= c.*2166G= (n.*2166G=) c.2657G= n.946G= n.1677G= c.2517G= (p.Leu839=) c.*1963G= (n.*1963G=) c.2553G= (p.Leu851=) c.2064G= (p.Leu688=) c.2826G= (p.Leu942=) c.1320G= (p.Leu440=) | |
| 16 | g.2076092G>T | CA492953647 | TSC2 | c.*1211G>T (n.*1211G>T) c.2709G>T (p.Leu903=) c.2664G>T (p.Leu888=) c.*2101G>T (n.*2101G>T) c.*3718G>T (n.*3718G>T) c.2697G>T (p.Leu899=) c.1321G>T c.*2166G>T (n.*2166G>T) c.2657G>T n.946G>T n.1677G>T c.2517G>T (p.Leu839=) c.*1963G>T (n.*1963G>T) c.2553G>T (p.Leu851=) c.2064G>T (p.Leu688=) c.2826G>T (p.Leu942=) c.1320G>T (p.Leu440=) | ClinVar dbSNP |
| 16 | g.2076093G>A | CA394279260 | TSC2 | c.*1212G>A (n.*1212G>A) c.2710G>A (p.Ala904Thr) c.2665G>A (p.Ala889Thr) c.*2102G>A (n.*2102G>A) c.*3719G>A (n.*3719G>A) c.2698G>A (p.Ala900Thr) c.1322G>A c.2658G>A n.947G>A n.1678G>A c.2518G>A (p.Ala840Thr) c.*1964G>A (n.*1964G>A) c.2554G>A (p.Ala852Thr) c.2065G>A (p.Ala689Thr) c.2827G>A (p.Ala943Thr) c.1321G>A (p.Ala441Thr) | ClinVar dbSNP |
| 16 | g.2076093G>C | CA017834 | TSC2 | c.*1212G>C (n.*1212G>C) c.2710G>C (p.Ala904Pro) c.2665G>C (p.Ala889Pro) c.*2102G>C (n.*2102G>C) c.*3719G>C (n.*3719G>C) c.2698G>C (p.Ala900Pro) c.1322G>C c.2658G>C n.947G>C n.1678G>C c.2518G>C (p.Ala840Pro) c.*1964G>C (n.*1964G>C) c.2554G>C (p.Ala852Pro) c.2065G>C (p.Ala689Pro) c.2827G>C (p.Ala943Pro) c.1321G>C (p.Ala441Pro) | ClinVar dbSNP |
| 16 | g.2076093G= | CA2202018556 | TSC2 | c.*1212G= (n.*1212G=) c.2710G= (p.Ala904=) c.2665G= (p.Ala889=) c.*2102G= (n.*2102G=) c.*3719G= (n.*3719G=) c.2698G= (p.Ala900=) c.1322G= c.2658G= n.947G= n.1678G= c.2518G= (p.Ala840=) c.*1964G= (n.*1964G=) c.2554G= (p.Ala852=) c.2065G= (p.Ala689=) c.2827G= (p.Ala943=) c.1321G= (p.Ala441=) | |
| 16 | g.2076093G>T | CA394279257 | TSC2 | c.*1212G>T (n.*1212G>T) c.2710G>T (p.Ala904Ser) c.2665G>T (p.Ala889Ser) c.*2102G>T (n.*2102G>T) c.*3719G>T (n.*3719G>T) c.2698G>T (p.Ala900Ser) c.1322G>T c.2658G>T n.947G>T n.1678G>T c.2518G>T (p.Ala840Ser) c.*1964G>T (n.*1964G>T) c.2554G>T (p.Ala852Ser) c.2065G>T (p.Ala689Ser) c.2827G>T (p.Ala943Ser) c.1321G>T (p.Ala441Ser) | gnomAD v4 |
| 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) |