UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.25339141_25339209delinsAGCATGCCAAATCCTTTGGCATACGTGATGGCCTTCAACAATCTCTCTTTAAGTTTTTCTTTGCTTGAG | CA2165186020 | SNHG14,UBE3A | c.2487_2555delinsCTCAAGCAAAGAAAAACTTAAAGAGAGATTGTTGAAGGCCATCACGTATGCCAAAGGATTTGGCATGCT (p.Tyr829=) c.*872_*940delinsCTCAAGCAAAGAAAAACTTAAAGAGAGATTGTTGAAGGCCATCACGTATGCCAAAGGATTTGGCATGCT (n.*872_*940delinsCTCAAGCAAAGAAAAACTTAAAGAGAGATTGTTGAAGGCCATCACGTATGCCAAAGGATTTGGCATGCT) c.84_152delinsCTCAAGCAAAGAAAAACTTAAAGAGAGATTGTTGAAGGCCATCACGTATGCCAAAGGATTTGGCATGCT (p.Tyr28=) c.2547_2615delinsCTCAAGCAAAGAAAAACTTAAAGAGAGATTGTTGAAGGCCATCACGTATGCCAAAGGATTTGGCATGCT (p.Tyr849=) c.2556_2624delinsCTCAAGCAAAGAAAAACTTAAAGAGAGATTGTTGAAGGCCATCACGTATGCCAAAGGATTTGGCATGCT (p.Tyr852=) c.2370_2438delinsCTCAAGCAAAGAAAAACTTAAAGAGAGATTGTTGAAGGCCATCACGTATGCCAAAGGATTTGGCATGCT (p.Tyr790=) c.498_566delinsCTCAAGCAAAGAAAAACTTAAAGAGAGATTGTTGAAGGCCATCACGTATGCCAAAGGATTTGGCATGCT (p.Tyr166=) c.358_426delinsCTCAAGCAAAGAAAAACTTAAAGAGAGATTGTTGAAGGCCATCACGTATGCCAAAGGATTTGGCATGCT c.2391_2459delinsCTCAAGCAAAGAAAAACTTAAAGAGAGATTGTTGAAGGCCATCACGTATGCCAAAGGATTTGGCATGCT (p.Tyr797=) c.2331_2399delinsCTCAAGCAAAGAAAAACTTAAAGAGAGATTGTTGAAGGCCATCACGTATGCCAAAGGATTTGGCATGCT (p.Tyr777=) c.2322_2390delinsCTCAAGCAAAGAAAAACTTAAAGAGAGATTGTTGAAGGCCATCACGTATGCCAAAGGATTTGGCATGCT (p.Tyr774=) c.1296_1364delinsCTCAAGCAAAGAAAAACTTAAAGAGAGATTGTTGAAGGCCATCACGTATGCCAAAGGATTTGGCATGCT (p.Tyr432=) c.1236_1304delinsCTCAAGCAAAGAAAAACTTAAAGAGAGATTGTTGAAGGCCATCACGTATGCCAAAGGATTTGGCATGCT (p.Tyr412=) n.18393-52455_18393-52387delinsAGCATGCCAAATCCTTTGGCATACGTGATGGCCTTCAACAATCTCTCTTTAAGTTTTTCTTTGCTTGAG n.3091_3159delinsCTCAAGCAAAGAAAAACTTAAAGAGAGATTGTTGAAGGCCATCACGTATGCCAAAGGATTTGGCATGCT c.2400_2468delinsCTCAAGCAAAGAAAAACTTAAAGAGAGATTGTTGAAGGCCATCACGTATGCCAAAGGATTTGGCATGCT (p.Tyr800=) n.3059_3127delinsCTCAAGCAAAGAAAAACTTAAAGAGAGATTGTTGAAGGCCATCACGTATGCCAAAGGATTTGGCATGCT | |
| 15 | g.25339142_25339209del | CA333359 | SNHG14,UBE3A | c.2487_2554del (p.Ser830ValfsTer8) c.*872_*939del (n.*872_*939del) c.84_151del (p.Ser29ValfsTer8) c.2547_2614del (p.Ser850ValfsTer8) c.2556_2623del (p.Ser853ValfsTer8) c.2370_2437del (p.Ser791ValfsTer?) c.2556_2623del (p.Ser853ValfsTer?) c.2487_2554del (p.Ser830ValfsTer?) c.498_565del (p.Ser167ValfsTer?) c.358_425del c.2391_2458del (p.Ser798ValfsTer8) c.2370_2437del (p.Ser791ValfsTer8) c.2331_2398del (p.Ser778ValfsTer8) c.2322_2389del (p.Ser775ValfsTer8) c.1296_1363del (p.Ser433ValfsTer8) c.1236_1303del (p.Ser413ValfsTer8) n.18393-52454_18393-52387del n.3091_3158del c.2400_2467del (p.Ser801ValfsTer8) n.3059_3126del | ClinVar dbSNP |
| 15 | g.25339175_25339233dup | CA333354 | SNHG14,UBE3A | c.2463_2521dup (p.Lys841IlefsTer20) c.*848_*906dup (n.*848_*906dup) c.60_118dup (p.Lys40IlefsTer20) c.2523_2581dup (p.Lys861IlefsTer20) c.2532_2590dup (p.Lys864IlefsTer20) c.2346_2404dup (p.Lys802IlefsTer20) c.474_532dup (p.Lys178IlefsTer20) c.334_392dup c.2367_2425dup (p.Lys809IlefsTer20) c.2307_2365dup (p.Lys789IlefsTer20) c.2298_2356dup (p.Lys786IlefsTer20) c.1272_1330dup (p.Lys444IlefsTer20) c.1212_1270dup (p.Lys424IlefsTer20) n.18393-52421_18393-52363dup n.3067_3125dup c.2376_2434dup (p.Lys812IlefsTer20) n.3035_3093dup | ClinVar dbSNP |
| 15 | g.25339190_25339206del | CA16044019 | SNHG14,UBE3A | c.2493_2509del (p.Ser831ArgfsTer24) c.*878_*894del (n.*878_*894del) c.90_106del (p.Ser30ArgfsTer24) c.2553_2569del (p.Ser851ArgfsTer24) c.2562_2578del (p.Ser854ArgfsTer24) c.2376_2392del (p.Ser792ArgfsTer?) c.2562_2578del (p.Ser854ArgfsTer?) c.2493_2509del (p.Ser831ArgfsTer?) c.504_520del (p.Ser168ArgfsTer?) c.364_380del c.2397_2413del (p.Ser799ArgfsTer24) c.2376_2392del (p.Ser792ArgfsTer24) c.2337_2353del (p.Ser779ArgfsTer24) c.2328_2344del (p.Ser776ArgfsTer24) c.1302_1318del (p.Ser434ArgfsTer24) c.1242_1258del (p.Ser414ArgfsTer24) n.18393-52406_18393-52390del n.3097_3113del c.2406_2422del (p.Ser802ArgfsTer24) n.3065_3081del | ClinVar dbSNP |
| 15 | g.25339190_25339210dup | CA333387 | SNHG14,UBE3A | c.2487_2507dup (p.Leu835_Lys836insAsnSerSerLysGluLysLeu) c.*872_*892dup (n.*872_*892dup) c.84_104dup (p.Leu34_Lys35insAsnSerSerLysGluLysLeu) c.2547_2567dup (p.Leu855_Lys856insAsnSerSerLysGluLysLeu) c.2556_2576dup (p.Leu858_Lys859insAsnSerSerLysGluLysLeu) c.2370_2390dup (p.Leu796_Lys797insAsnSerSerLysGluLysLeu) c.498_518dup (p.Leu172_Lys173insAsnSerSerLysGluLysLeu) c.358_378dup c.2391_2411dup (p.Leu803_Lys804insAsnSerSerLysGluLysLeu) c.2331_2351dup (p.Leu783_Lys784insAsnSerSerLysGluLysLeu) c.2322_2342dup (p.Leu780_Lys781insAsnSerSerLysGluLysLeu) c.1296_1316dup (p.Leu438_Lys439insAsnSerSerLysGluLysLeu) c.1236_1256dup (p.Leu418_Lys419insAsnSerSerLysGluLysLeu) n.18393-52406_18393-52386dup n.3091_3111dup c.2400_2420dup (p.Leu806_Lys807insAsnSerSerLysGluLysLeu) n.3059_3079dup | ClinVar dbSNP |
| 15 | g.25339190_25339233dup | CA335653 | SNHG14,UBE3A | c.2463_2506dup (p.Lys836IlefsTer20) c.*848_*891dup (n.*848_*891dup) c.60_103dup (p.Lys35IlefsTer20) c.2523_2566dup (p.Lys856IlefsTer20) c.2532_2575dup (p.Lys859IlefsTer20) c.2346_2389dup (p.Lys797IlefsTer20) c.474_517dup (p.Lys173IlefsTer20) c.334_377dup c.2367_2410dup (p.Lys804IlefsTer20) c.2307_2350dup (p.Lys784IlefsTer20) c.2298_2341dup (p.Lys781IlefsTer20) c.1272_1315dup (p.Lys439IlefsTer20) c.1212_1255dup (p.Lys419IlefsTer20) n.18393-52406_18393-52363dup n.3067_3110dup c.2376_2419dup (p.Lys807IlefsTer20) n.3035_3078dup | ClinVar dbSNP |
| 15 | g.25339198_25339213dup | CA2739278992 | SNHG14,UBE3A | c.2485_2500dup (p.Lys834IlefsTer8) c.*870_*885dup (n.*870_*885dup) c.82_97dup (p.Lys33IlefsTer8) c.2545_2560dup (p.Lys854IlefsTer8) c.2554_2569dup (p.Lys857IlefsTer8) c.2368_2383dup (p.Lys795IlefsTer8) c.496_511dup (p.Lys171IlefsTer8) c.356_371dup c.2389_2404dup (p.Lys802IlefsTer8) c.2329_2344dup (p.Lys782IlefsTer8) c.2320_2335dup (p.Lys779IlefsTer8) c.1294_1309dup (p.Lys437IlefsTer8) c.1234_1249dup (p.Lys417IlefsTer8) n.18393-52398_18393-52383dup n.3089_3104dup c.2398_2413dup (p.Lys805IlefsTer8) n.3057_3072dup | ClinVar |
| 15 | g.25339204_25339240dup | CA915946469 | SNHG14,UBE3A | c.2457_2493dup (p.Lys832LeufsTer3) c.*842_*878dup (n.*842_*878dup) c.54_90dup (p.Lys31LeufsTer3) c.2517_2553dup (p.Lys852LeufsTer3) c.2526_2562dup (p.Lys855LeufsTer3) c.2340_2376dup (p.Lys793LeufsTer3) c.468_504dup (p.Lys169LeufsTer3) c.328_364dup c.2361_2397dup (p.Lys800LeufsTer3) c.2301_2337dup (p.Lys780LeufsTer3) c.2292_2328dup (p.Lys777LeufsTer3) c.1266_1302dup (p.Lys435LeufsTer3) c.1206_1242dup (p.Lys415LeufsTer3) n.18393-52392_18393-52356dup n.3061_3097dup c.2370_2406dup (p.Lys803LeufsTer3) n.3029_3065dup | ClinVar dbSNP |
| 15 | g.25339204_25339221delinsCTTGAGTATTCCGGAAGT | CA2165186224 | SNHG14,UBE3A | c.2475_2492delinsACTTCCGGAATACTCAAG (p.Leu825=) c.*860_*877delinsACTTCCGGAATACTCAAG (n.*860_*877delinsACTTCCGGAATACTCAAG) c.72_89delinsACTTCCGGAATACTCAAG (p.Leu24=) c.2535_2552delinsACTTCCGGAATACTCAAG (p.Leu845=) c.2544_2561delinsACTTCCGGAATACTCAAG (p.Leu848=) c.2358_2375delinsACTTCCGGAATACTCAAG (p.Leu786=) c.486_503delinsACTTCCGGAATACTCAAG (p.Leu162=) c.346_363delinsACTTCCGGAATACTCAAG c.2379_2396delinsACTTCCGGAATACTCAAG (p.Leu793=) c.2319_2336delinsACTTCCGGAATACTCAAG (p.Leu773=) c.2310_2327delinsACTTCCGGAATACTCAAG (p.Leu770=) c.1284_1301delinsACTTCCGGAATACTCAAG (p.Leu428=) c.1224_1241delinsACTTCCGGAATACTCAAG (p.Leu408=) n.18393-52392_18393-52375delinsCTTGAGTATTCCGGAAGT n.3079_3096delinsACTTCCGGAATACTCAAG c.2388_2405delinsACTTCCGGAATACTCAAG (p.Leu796=) n.3047_3064delinsACTTCCGGAATACTCAAG | |
| 15 | g.25339205T>A | CA391350622 | SNHG14,UBE3A | c.2491A>T (p.Ser831Cys) c.*876A>T (n.*876A>T) c.88A>T (p.Ser30Cys) c.2551A>T (p.Ser851Cys) c.2560A>T (p.Ser854Cys) c.2374A>T (p.Ser792Cys) c.502A>T (p.Ser168Cys) c.362A>T c.2395A>T (p.Ser799Cys) c.2335A>T (p.Ser779Cys) c.2326A>T (p.Ser776Cys) c.1300A>T (p.Ser434Cys) c.1240A>T (p.Ser414Cys) n.18393-52391T>A n.3095A>T c.2404A>T (p.Ser802Cys) n.3063A>T | |
| 15 | g.25339205T>C | CA391350623 | SNHG14,UBE3A | c.2491A>G (p.Ser831Gly) c.*876A>G (n.*876A>G) c.88A>G (p.Ser30Gly) c.2551A>G (p.Ser851Gly) c.2560A>G (p.Ser854Gly) c.2374A>G (p.Ser792Gly) c.502A>G (p.Ser168Gly) c.362A>G c.2395A>G (p.Ser799Gly) c.2335A>G (p.Ser779Gly) c.2326A>G (p.Ser776Gly) c.1300A>G (p.Ser434Gly) c.1240A>G (p.Ser414Gly) n.18393-52391T>C n.3095A>G c.2404A>G (p.Ser802Gly) n.3063A>G | |
| 15 | g.25339205T>G | CA391350624 | SNHG14,UBE3A | c.2491A>C (p.Ser831Arg) c.*876A>C (n.*876A>C) c.88A>C (p.Ser30Arg) c.2551A>C (p.Ser851Arg) c.2560A>C (p.Ser854Arg) c.2374A>C (p.Ser792Arg) c.502A>C (p.Ser168Arg) c.362A>C c.2395A>C (p.Ser799Arg) c.2335A>C (p.Ser779Arg) c.2326A>C (p.Ser776Arg) c.1300A>C (p.Ser434Arg) c.1240A>C (p.Ser414Arg) n.18393-52391T>G n.3095A>C c.2404A>C (p.Ser802Arg) n.3063A>C | |
| 15 | g.25339205_25339221del | CA16614580 | SNHG14,UBE3A | c.2475_2491del (p.Leu826GlnfsTer5) c.*860_*876del (n.*860_*876del) c.72_88del (p.Leu25GlnfsTer5) c.2535_2551del (p.Leu846GlnfsTer5) c.2544_2560del (p.Leu849GlnfsTer5) c.2358_2374del (p.Leu787GlnfsTer5) c.486_502del (p.Leu163GlnfsTer5) c.346_362del c.2379_2395del (p.Leu794GlnfsTer5) c.2319_2335del (p.Leu774GlnfsTer5) c.2310_2326del (p.Leu771GlnfsTer5) c.1284_1300del (p.Leu429GlnfsTer5) c.1224_1240del (p.Leu409GlnfsTer5) n.18393-52391_18393-52375del n.3079_3095del c.2388_2404del (p.Leu797GlnfsTer5) n.3047_3063del | ClinVar dbSNP |
| 15 | g.25339206T>A | CA488871853 | SNHG14,UBE3A | c.2490A>T (p.Ser830=) c.*875A>T (n.*875A>T) c.87A>T (p.Ser29=) c.2550A>T (p.Ser850=) c.2559A>T (p.Ser853=) c.2373A>T (p.Ser791=) c.501A>T (p.Ser167=) c.361A>T c.2394A>T (p.Ser798=) c.2334A>T (p.Ser778=) c.2325A>T (p.Ser775=) c.1299A>T (p.Ser433=) c.1239A>T (p.Ser413=) n.18393-52390T>A n.3094A>T c.2403A>T (p.Ser801=) n.3062A>T | |
| 15 | g.25339206T>C | CA488871854 | SNHG14,UBE3A | c.2490A>G (p.Ser830=) c.*875A>G (n.*875A>G) c.87A>G (p.Ser29=) c.2550A>G (p.Ser850=) c.2559A>G (p.Ser853=) c.2373A>G (p.Ser791=) c.501A>G (p.Ser167=) c.361A>G c.2394A>G (p.Ser798=) c.2334A>G (p.Ser778=) c.2325A>G (p.Ser775=) c.1299A>G (p.Ser433=) c.1239A>G (p.Ser413=) n.18393-52390T>C n.3094A>G c.2403A>G (p.Ser801=) n.3062A>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.25339206T>G | CA488871857 | SNHG14,UBE3A | c.2490A>C (p.Ser830=) c.*875A>C (n.*875A>C) c.87A>C (p.Ser29=) c.2550A>C (p.Ser850=) c.2559A>C (p.Ser853=) c.2373A>C (p.Ser791=) c.501A>C (p.Ser167=) c.361A>C c.2394A>C (p.Ser798=) c.2334A>C (p.Ser778=) c.2325A>C (p.Ser775=) c.1299A>C (p.Ser433=) c.1239A>C (p.Ser413=) n.18393-52390T>G n.3094A>C c.2403A>C (p.Ser801=) n.3062A>C | |
| 15 | g.25339206T= | CA2165186229 | SNHG14,UBE3A | c.2490A= (p.Ser830=) c.*875A= (n.*875A=) c.87A= (p.Ser29=) c.2550A= (p.Ser850=) c.2559A= (p.Ser853=) c.2373A= (p.Ser791=) c.501A= (p.Ser167=) c.361A= c.2394A= (p.Ser798=) c.2334A= (p.Ser778=) c.2325A= (p.Ser775=) c.1299A= (p.Ser433=) c.1239A= (p.Ser413=) n.18393-52390T= n.3094A= c.2403A= (p.Ser801=) n.3062A= | |
| 15 | g.25339207_25339210dup | CA2695219778 | SNHG14,UBE3A | c.2487_2490dup (p.Ser831LeufsTer7) c.*872_*875dup (n.*872_*875dup) c.84_87dup (p.Ser30LeufsTer7) c.2547_2550dup (p.Ser851LeufsTer7) c.2556_2559dup (p.Ser854LeufsTer7) c.2370_2373dup (p.Ser792LeufsTer7) c.498_501dup (p.Ser168LeufsTer7) c.358_361dup c.2391_2394dup (p.Ser799LeufsTer7) c.2331_2334dup (p.Ser779LeufsTer7) c.2322_2325dup (p.Ser776LeufsTer7) c.1296_1299dup (p.Ser434LeufsTer7) c.1236_1239dup (p.Ser414LeufsTer7) n.18393-52389_18393-52386dup n.3091_3094dup c.2400_2403dup (p.Ser802LeufsTer7) n.3059_3062dup | |
| 15 | g.25339207G>A | CA391350625 | SNHG14,UBE3A | c.2489C>T (p.Ser830Leu) c.*874C>T (n.*874C>T) c.86C>T (p.Ser29Leu) c.2549C>T (p.Ser850Leu) c.2558C>T (p.Ser853Leu) c.2372C>T (p.Ser791Leu) c.500C>T (p.Ser167Leu) c.360C>T c.2393C>T (p.Ser798Leu) c.2333C>T (p.Ser778Leu) c.2324C>T (p.Ser775Leu) c.1298C>T (p.Ser433Leu) c.1238C>T (p.Ser413Leu) n.18393-52389G>A n.3093C>T c.2402C>T (p.Ser801Leu) n.3061C>T | COSMIC |
| 15 | g.25339207G>C | CA333360 | SNHG14,UBE3A | c.2489C>G (p.Ser830Ter) c.*874C>G (n.*874C>G) c.86C>G (p.Ser29Ter) c.2549C>G (p.Ser850Ter) c.2558C>G (p.Ser853Ter) c.2372C>G (p.Ser791Ter) c.500C>G (p.Ser167Ter) c.360C>G c.2393C>G (p.Ser798Ter) c.2333C>G (p.Ser778Ter) c.2324C>G (p.Ser775Ter) c.1298C>G (p.Ser433Ter) c.1238C>G (p.Ser413Ter) n.18393-52389G>C n.3093C>G c.2402C>G (p.Ser801Ter) n.3061C>G | ClinVar dbSNP |
| 15 | g.25339207G= | CA2165186235 | SNHG14,UBE3A | c.2489C= (p.Ser830=) c.*874C= (n.*874C=) c.86C= (p.Ser29=) c.2549C= (p.Ser850=) c.2558C= (p.Ser853=) c.2372C= (p.Ser791=) c.500C= (p.Ser167=) c.360C= c.2393C= (p.Ser798=) c.2333C= (p.Ser778=) c.2324C= (p.Ser775=) c.1298C= (p.Ser433=) c.1238C= (p.Ser413=) n.18393-52389G= n.3093C= c.2402C= (p.Ser801=) n.3061C= | |
| 15 | g.25339207G>T | CA391350626 | SNHG14,UBE3A | c.2489C>A (p.Ser830Ter) c.*874C>A (n.*874C>A) c.86C>A (p.Ser29Ter) c.2549C>A (p.Ser850Ter) c.2558C>A (p.Ser853Ter) c.2372C>A (p.Ser791Ter) c.500C>A (p.Ser167Ter) c.360C>A c.2393C>A (p.Ser798Ter) c.2333C>A (p.Ser778Ter) c.2324C>A (p.Ser775Ter) c.1298C>A (p.Ser433Ter) c.1238C>A (p.Ser413Ter) n.18393-52389G>T n.3093C>A c.2402C>A (p.Ser801Ter) n.3061C>A | |
| 15 | g.25339208A>C | CA391350628 | SNHG14,UBE3A | c.2488T>G (p.Ser830Ala) c.*873T>G (n.*873T>G) c.85T>G (p.Ser29Ala) c.2548T>G (p.Ser850Ala) c.2557T>G (p.Ser853Ala) c.2371T>G (p.Ser791Ala) c.499T>G (p.Ser167Ala) c.359T>G c.2392T>G (p.Ser798Ala) c.2332T>G (p.Ser778Ala) c.2323T>G (p.Ser775Ala) c.1297T>G (p.Ser433Ala) c.1237T>G (p.Ser413Ala) n.18393-52388A>C n.3092T>G c.2401T>G (p.Ser801Ala) n.3060T>G | |
| 15 | g.25339208A>G | CA391350629 | SNHG14,UBE3A | c.2488T>C (p.Ser830Pro) c.*873T>C (n.*873T>C) c.85T>C (p.Ser29Pro) c.2548T>C (p.Ser850Pro) c.2557T>C (p.Ser853Pro) c.2371T>C (p.Ser791Pro) c.499T>C (p.Ser167Pro) c.359T>C c.2392T>C (p.Ser798Pro) c.2332T>C (p.Ser778Pro) c.2323T>C (p.Ser775Pro) c.1297T>C (p.Ser433Pro) c.1237T>C (p.Ser413Pro) n.18393-52388A>G n.3092T>C c.2401T>C (p.Ser801Pro) n.3060T>C | |
| 15 | g.25339208A>T | CA391350627 | SNHG14,UBE3A | c.2488T>A (p.Ser830Thr) c.*873T>A (n.*873T>A) c.85T>A (p.Ser29Thr) c.2548T>A (p.Ser850Thr) c.2557T>A (p.Ser853Thr) c.2371T>A (p.Ser791Thr) c.499T>A (p.Ser167Thr) c.359T>A c.2392T>A (p.Ser798Thr) c.2332T>A (p.Ser778Thr) c.2323T>A (p.Ser775Thr) c.1297T>A (p.Ser433Thr) c.1237T>A (p.Ser413Thr) n.18393-52388A>T n.3092T>A c.2401T>A (p.Ser801Thr) n.3060T>A | |
| 15 | g.25339209G>A | CA488871868 | SNHG14,UBE3A | c.2487C>T (p.Tyr829=) c.*872C>T (n.*872C>T) c.84C>T (p.Tyr28=) c.2547C>T (p.Tyr849=) c.2556C>T (p.Tyr852=) c.2370C>T (p.Tyr790=) c.498C>T (p.Tyr166=) c.358C>T c.2391C>T (p.Tyr797=) c.2331C>T (p.Tyr777=) c.2322C>T (p.Tyr774=) c.1296C>T (p.Tyr432=) c.1236C>T (p.Tyr412=) n.18393-52387G>A n.3091C>T c.2400C>T (p.Tyr800=) n.3059C>T | ClinVar dbSNP gnomAD v2 |
| 15 | g.25339209G>C | CA391350630 | SNHG14,UBE3A | c.2487C>G (p.Tyr829Ter) c.*872C>G (n.*872C>G) c.84C>G (p.Tyr28Ter) c.2547C>G (p.Tyr849Ter) c.2556C>G (p.Tyr852Ter) c.2370C>G (p.Tyr790Ter) c.498C>G (p.Tyr166Ter) c.358C>G c.2391C>G (p.Tyr797Ter) c.2331C>G (p.Tyr777Ter) c.2322C>G (p.Tyr774Ter) c.1296C>G (p.Tyr432Ter) c.1236C>G (p.Tyr412Ter) n.18393-52387G>C n.3091C>G c.2400C>G (p.Tyr800Ter) n.3059C>G | ClinVar dbSNP |
| 15 | g.25339209G= | CA2165186240 | SNHG14,UBE3A | c.2487C= (p.Tyr829=) c.*872C= (n.*872C=) c.84C= (p.Tyr28=) c.2547C= (p.Tyr849=) c.2556C= (p.Tyr852=) c.2370C= (p.Tyr790=) c.498C= (p.Tyr166=) c.358C= c.2391C= (p.Tyr797=) c.2331C= (p.Tyr777=) c.2322C= (p.Tyr774=) c.1296C= (p.Tyr432=) c.1236C= (p.Tyr412=) n.18393-52387G= n.3091C= c.2400C= (p.Tyr800=) n.3059C= | |
| 15 | g.25339209G>T | CA391350631 | SNHG14,UBE3A | c.2487C>A (p.Tyr829Ter) c.*872C>A (n.*872C>A) c.84C>A (p.Tyr28Ter) c.2547C>A (p.Tyr849Ter) c.2556C>A (p.Tyr852Ter) c.2370C>A (p.Tyr790Ter) c.498C>A (p.Tyr166Ter) c.358C>A c.2391C>A (p.Tyr797Ter) c.2331C>A (p.Tyr777Ter) c.2322C>A (p.Tyr774Ter) c.1296C>A (p.Tyr432Ter) c.1236C>A (p.Tyr412Ter) n.18393-52387G>T n.3091C>A c.2400C>A (p.Tyr800Ter) n.3059C>A | |
| 15 | g.25339210T>A | CA391350632 | SNHG14,UBE3A | c.2486A>T (p.Tyr829Phe) c.*871A>T (n.*871A>T) c.83A>T (p.Tyr28Phe) c.2546A>T (p.Tyr849Phe) c.2555A>T (p.Tyr852Phe) c.2369A>T (p.Tyr790Phe) c.497A>T (p.Tyr166Phe) c.357A>T c.2390A>T (p.Tyr797Phe) c.2330A>T (p.Tyr777Phe) c.2321A>T (p.Tyr774Phe) c.1295A>T (p.Tyr432Phe) c.1235A>T (p.Tyr412Phe) n.18393-52386T>A n.3090A>T c.2399A>T (p.Tyr800Phe) n.3058A>T | dbSNP |
| 15 | g.25339210T>C | CA391350633 | SNHG14,UBE3A | c.2486A>G (p.Tyr829Cys) c.*871A>G (n.*871A>G) c.83A>G (p.Tyr28Cys) c.2546A>G (p.Tyr849Cys) c.2555A>G (p.Tyr852Cys) c.2369A>G (p.Tyr790Cys) c.497A>G (p.Tyr166Cys) c.357A>G c.2390A>G (p.Tyr797Cys) c.2330A>G (p.Tyr777Cys) c.2321A>G (p.Tyr774Cys) c.1295A>G (p.Tyr432Cys) c.1235A>G (p.Tyr412Cys) n.18393-52386T>C n.3090A>G c.2399A>G (p.Tyr800Cys) n.3058A>G | |
| 15 | g.25339210T>G | CA391350634 | SNHG14,UBE3A | c.2486A>C (p.Tyr829Ser) c.*871A>C (n.*871A>C) c.83A>C (p.Tyr28Ser) c.2546A>C (p.Tyr849Ser) c.2555A>C (p.Tyr852Ser) c.2369A>C (p.Tyr790Ser) c.497A>C (p.Tyr166Ser) c.357A>C c.2390A>C (p.Tyr797Ser) c.2330A>C (p.Tyr777Ser) c.2321A>C (p.Tyr774Ser) c.1295A>C (p.Tyr432Ser) c.1235A>C (p.Tyr412Ser) n.18393-52386T>G n.3090A>C c.2399A>C (p.Tyr800Ser) n.3058A>C | |
| 15 | g.25339210T= | CA2165186242 | SNHG14,UBE3A | c.2486A= (p.Tyr829=) c.*871A= (n.*871A=) c.83A= (p.Tyr28=) c.2546A= (p.Tyr849=) c.2555A= (p.Tyr852=) c.2369A= (p.Tyr790=) c.497A= (p.Tyr166=) c.357A= c.2390A= (p.Tyr797=) c.2330A= (p.Tyr777=) c.2321A= (p.Tyr774=) c.1295A= (p.Tyr432=) c.1235A= (p.Tyr412=) n.18393-52386T= n.3090A= c.2399A= (p.Tyr800=) n.3058A= | |
| 15 | g.25339211A= | CA2165186245 | SNHG14,UBE3A | c.2485T= (p.Tyr829=) c.*870T= (n.*870T=) c.82T= (p.Tyr28=) c.2545T= (p.Tyr849=) c.2554T= (p.Tyr852=) c.2368T= (p.Tyr790=) c.496T= (p.Tyr166=) c.356T= c.2389T= (p.Tyr797=) c.2329T= (p.Tyr777=) c.2320T= (p.Tyr774=) c.1294T= (p.Tyr432=) c.1234T= (p.Tyr412=) n.18393-52385A= n.3089T= c.2398T= (p.Tyr800=) n.3057T= | |
| 15 | g.25339211A>C | CA391350635 | SNHG14,UBE3A | c.2485T>G (p.Tyr829Asp) c.*870T>G (n.*870T>G) c.82T>G (p.Tyr28Asp) c.2545T>G (p.Tyr849Asp) c.2554T>G (p.Tyr852Asp) c.2368T>G (p.Tyr790Asp) c.496T>G (p.Tyr166Asp) c.356T>G c.2389T>G (p.Tyr797Asp) c.2329T>G (p.Tyr777Asp) c.2320T>G (p.Tyr774Asp) c.1294T>G (p.Tyr432Asp) c.1234T>G (p.Tyr412Asp) n.18393-52385A>C n.3089T>G c.2398T>G (p.Tyr800Asp) n.3057T>G | gnomAD v4 |
| 15 | g.25339211A>G | CA333549 | SNHG14,UBE3A | c.2485T>C (p.Tyr829His) c.*870T>C (n.*870T>C) c.82T>C (p.Tyr28His) c.2545T>C (p.Tyr849His) c.2554T>C (p.Tyr852His) c.2368T>C (p.Tyr790His) c.496T>C (p.Tyr166His) c.356T>C c.2389T>C (p.Tyr797His) c.2329T>C (p.Tyr777His) c.2320T>C (p.Tyr774His) c.1294T>C (p.Tyr432His) c.1234T>C (p.Tyr412His) n.18393-52385A>G n.3089T>C c.2398T>C (p.Tyr800His) n.3057T>C | ClinVar dbSNP |
| 15 | g.25339211A>T | CA391350636 | SNHG14,UBE3A | c.2485T>A (p.Tyr829Asn) c.*870T>A (n.*870T>A) c.82T>A (p.Tyr28Asn) c.2545T>A (p.Tyr849Asn) c.2554T>A (p.Tyr852Asn) c.2368T>A (p.Tyr790Asn) c.496T>A (p.Tyr166Asn) c.356T>A c.2389T>A (p.Tyr797Asn) c.2329T>A (p.Tyr777Asn) c.2320T>A (p.Tyr774Asn) c.1294T>A (p.Tyr432Asn) c.1234T>A (p.Tyr412Asn) n.18393-52385A>T n.3089T>A c.2398T>A (p.Tyr800Asn) n.3057T>A | |
| 15 | g.25339212T>A | CA391350638 | SNHG14,UBE3A | c.2484A>T (p.Glu828Asp) c.*869A>T (n.*869A>T) c.81A>T (p.Glu27Asp) c.2544A>T (p.Glu848Asp) c.2553A>T (p.Glu851Asp) c.2367A>T (p.Glu789Asp) c.495A>T (p.Glu165Asp) c.355A>T c.2388A>T (p.Glu796Asp) c.2328A>T (p.Glu776Asp) c.2319A>T (p.Glu773Asp) c.1293A>T (p.Glu431Asp) c.1233A>T (p.Glu411Asp) n.18393-52384T>A n.3088A>T c.2397A>T (p.Glu799Asp) n.3056A>T | |
| 15 | g.25339212T>C | CA488871885 | SNHG14,UBE3A | c.2484A>G (p.Glu828=) c.*869A>G (n.*869A>G) c.81A>G (p.Glu27=) c.2544A>G (p.Glu848=) c.2553A>G (p.Glu851=) c.2367A>G (p.Glu789=) c.495A>G (p.Glu165=) c.355A>G c.2388A>G (p.Glu796=) c.2328A>G (p.Glu776=) c.2319A>G (p.Glu773=) c.1293A>G (p.Glu431=) c.1233A>G (p.Glu411=) n.18393-52384T>C n.3088A>G c.2397A>G (p.Glu799=) n.3056A>G | |
| 15 | g.25339212T>G | CA391350637 | SNHG14,UBE3A | c.2484A>C (p.Glu828Asp) c.*869A>C (n.*869A>C) c.81A>C (p.Glu27Asp) c.2544A>C (p.Glu848Asp) c.2553A>C (p.Glu851Asp) c.2367A>C (p.Glu789Asp) c.495A>C (p.Glu165Asp) c.355A>C c.2388A>C (p.Glu796Asp) c.2328A>C (p.Glu776Asp) c.2319A>C (p.Glu773Asp) c.1293A>C (p.Glu431Asp) c.1233A>C (p.Glu411Asp) n.18393-52384T>G n.3088A>C c.2397A>C (p.Glu799Asp) n.3056A>C | |
| 15 | g.25339212_25339221dup | CA1139663779 | SNHG14,UBE3A | c.2475_2484dup (p.Tyr829ThrfsTer11) c.*860_*869dup (n.*860_*869dup) c.72_81dup (p.Tyr28ThrfsTer11) c.2535_2544dup (p.Tyr849ThrfsTer11) c.2544_2553dup (p.Tyr852ThrfsTer11) c.2358_2367dup (p.Tyr790ThrfsTer11) c.486_495dup (p.Tyr166ThrfsTer11) c.346_355dup c.2379_2388dup (p.Tyr797ThrfsTer11) c.2319_2328dup (p.Tyr777ThrfsTer11) c.2310_2319dup (p.Tyr774ThrfsTer11) c.1284_1293dup (p.Tyr432ThrfsTer11) c.1224_1233dup (p.Tyr412ThrfsTer11) n.18393-52384_18393-52375dup n.3079_3088dup c.2388_2397dup (p.Tyr800ThrfsTer11) n.3047_3056dup | ClinVar dbSNP |
| 15 | g.25339213T>A | CA391350639 | SNHG14,UBE3A | c.2483A>T (p.Glu828Val) c.*868A>T (n.*868A>T) c.80A>T (p.Glu27Val) c.2543A>T (p.Glu848Val) c.2552A>T (p.Glu851Val) c.2366A>T (p.Glu789Val) c.494A>T (p.Glu165Val) c.354A>T c.2387A>T (p.Glu796Val) c.2327A>T (p.Glu776Val) c.2318A>T (p.Glu773Val) c.1292A>T (p.Glu431Val) c.1232A>T (p.Glu411Val) n.18393-52383T>A n.3087A>T c.2396A>T (p.Glu799Val) n.3055A>T | |
| 15 | g.25339213T>C | CA391350640 | SNHG14,UBE3A | c.2483A>G (p.Glu828Gly) c.*868A>G (n.*868A>G) c.80A>G (p.Glu27Gly) c.2543A>G (p.Glu848Gly) c.2552A>G (p.Glu851Gly) c.2366A>G (p.Glu789Gly) c.494A>G (p.Glu165Gly) c.354A>G c.2387A>G (p.Glu796Gly) c.2327A>G (p.Glu776Gly) c.2318A>G (p.Glu773Gly) c.1292A>G (p.Glu431Gly) c.1232A>G (p.Glu411Gly) n.18393-52383T>C n.3087A>G c.2396A>G (p.Glu799Gly) n.3055A>G | |
| 15 | g.25339213T>G | CA391350641 | SNHG14,UBE3A | c.2483A>C (p.Glu828Ala) c.*868A>C (n.*868A>C) c.80A>C (p.Glu27Ala) c.2543A>C (p.Glu848Ala) c.2552A>C (p.Glu851Ala) c.2366A>C (p.Glu789Ala) c.494A>C (p.Glu165Ala) c.354A>C c.2387A>C (p.Glu796Ala) c.2327A>C (p.Glu776Ala) c.2318A>C (p.Glu773Ala) c.1292A>C (p.Glu431Ala) c.1232A>C (p.Glu411Ala) n.18393-52383T>G n.3087A>C c.2396A>C (p.Glu799Ala) n.3055A>C | |
| 15 | g.25339214C>A | CA391350642 | SNHG14,UBE3A | c.2482G>T (p.Glu828Ter) c.*867G>T (n.*867G>T) c.79G>T (p.Glu27Ter) c.2542G>T (p.Glu848Ter) c.2551G>T (p.Glu851Ter) c.2365G>T (p.Glu789Ter) c.493G>T (p.Glu165Ter) c.353G>T c.2386G>T (p.Glu796Ter) c.2326G>T (p.Glu776Ter) c.2317G>T (p.Glu773Ter) c.1291G>T (p.Glu431Ter) c.1231G>T (p.Glu411Ter) n.18393-52382C>A n.3086G>T c.2395G>T (p.Glu799Ter) n.3054G>T | |
| 15 | g.25339214C>G | CA391350643 | SNHG14,UBE3A | c.2482G>C (p.Glu828Gln) c.*867G>C (n.*867G>C) c.79G>C (p.Glu27Gln) c.2542G>C (p.Glu848Gln) c.2551G>C (p.Glu851Gln) c.2365G>C (p.Glu789Gln) c.493G>C (p.Glu165Gln) c.353G>C c.2386G>C (p.Glu796Gln) c.2326G>C (p.Glu776Gln) c.2317G>C (p.Glu773Gln) c.1291G>C (p.Glu431Gln) c.1231G>C (p.Glu411Gln) n.18393-52382C>G n.3086G>C c.2395G>C (p.Glu799Gln) n.3054G>C | |
| 15 | g.25339214C>T | CA391350644 | SNHG14,UBE3A | c.2482G>A (p.Glu828Lys) c.*867G>A (n.*867G>A) c.79G>A (p.Glu27Lys) c.2542G>A (p.Glu848Lys) c.2551G>A (p.Glu851Lys) c.2365G>A (p.Glu789Lys) c.493G>A (p.Glu165Lys) c.353G>A c.2386G>A (p.Glu796Lys) c.2326G>A (p.Glu776Lys) c.2317G>A (p.Glu773Lys) c.1291G>A (p.Glu431Lys) c.1231G>A (p.Glu411Lys) n.18393-52382C>T n.3086G>A c.2395G>A (p.Glu799Lys) n.3054G>A | |
| 15 | g.25339215C>A | CA488871897 | SNHG14,UBE3A | c.2481G>T (p.Pro827=) c.*866G>T (n.*866G>T) c.78G>T (p.Pro26=) c.2541G>T (p.Pro847=) c.2550G>T (p.Pro850=) c.2364G>T (p.Pro788=) c.492G>T (p.Pro164=) c.352G>T c.2385G>T (p.Pro795=) c.2325G>T (p.Pro775=) c.2316G>T (p.Pro772=) c.1290G>T (p.Pro430=) c.1230G>T (p.Pro410=) n.18393-52381C>A n.3085G>T c.2394G>T (p.Pro798=) n.3053G>T | gnomAD v4 |
| 15 | g.25339215C>G | CA488871901 | SNHG14,UBE3A | c.2481G>C (p.Pro827=) c.*866G>C (n.*866G>C) c.78G>C (p.Pro26=) c.2541G>C (p.Pro847=) c.2550G>C (p.Pro850=) c.2364G>C (p.Pro788=) c.492G>C (p.Pro164=) c.352G>C c.2385G>C (p.Pro795=) c.2325G>C (p.Pro775=) c.2316G>C (p.Pro772=) c.1290G>C (p.Pro430=) c.1230G>C (p.Pro410=) n.18393-52381C>G n.3085G>C c.2394G>C (p.Pro798=) n.3053G>C | |
| 15 | g.25339215C>T | CA488871903 | SNHG14,UBE3A | c.2481G>A (p.Pro827=) c.*866G>A (n.*866G>A) c.78G>A (p.Pro26=) c.2541G>A (p.Pro847=) c.2550G>A (p.Pro850=) c.2364G>A (p.Pro788=) c.492G>A (p.Pro164=) c.352G>A c.2385G>A (p.Pro795=) c.2325G>A (p.Pro775=) c.2316G>A (p.Pro772=) c.1290G>A (p.Pro430=) c.1230G>A (p.Pro410=) n.18393-52381C>T n.3085G>A c.2394G>A (p.Pro798=) n.3053G>A | gnomAD v4 |