TERT telomerase reverse transcriptase

Canonical transcript: NM_001193376

1075 unique variant annotations were identified in 1034 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
5-1253593-G-A c.*250C>T - 3-UTRSNV 15/15 - 1
5-1253744-G-A c.*99C>T - 3-UTRSNV 15/15 - 21
5-1253780-G-A c.*63C>T - 3-UTRSNV 15/15 - 2
5-1253866-C-T c.3187G>A p.Asp1063Asn Missense 15/15 - 3
5-1253878-C-G c.3175G>C p.Ala1059Pro Missense 15/15 - 1
5-1253887-C-T c.3166G>A p.Ala1056Thr Missense 15/15 - 1
5-1253905-T-C c.3148A>G p.Thr1050Ala Missense 15/15 - 2
5-1253909-C-CCCGG c.3143_3144insCCGG p.Leu1049Argfs*66 Frameshift 15/15 - 1
5-1253918-C-G c.3135G>C p.Pro1045Pro Synonymous 15/15 - 10
5-1253918-C-T c.3135G>A p.Pro1045Pro Synonymous 15/15 - 10
5-1253919-G-A c.3134C>T p.Pro1045Leu Missense 15/15 - 1
5-1253930-A-C c.3123T>G p.Ser1041Arg Missense 15/15 - 1
5-1253930-A-T c.3123T>A p.Ser1041Arg Missense 15/15 - 1
5-1253932-T-G c.3121A>C p.Ser1041Arg Missense 15/15 - 1
5-1253931-CT-CC c.3121delinsG p.Ser1041Gly Missense 15/15 - 1
5-1254487-CCT-CAT c.3101delinsT p.Arg1034Met Missense 14/15 - 1
5-1254510-C-T c.3079G>A p.Val1027Met Missense 14/15 - 1
5-1254521-C-T c.3068G>A p.Arg1023His Missense 14/15 - 1
5-1254532-CAG-TTT c.3055_3057delinsAAA p.Leu1019Lys Missense 14/15 - 4
5-1254534-G-A c.3055C>T p.Leu1019Leu Synonymous 14/15 - 2
5-1254552-G-C c.3037C>G p.Gln1013Glu Missense 14/15 - 1
5-1254585-G-C c.3004C>G p.Leu1002Val Missense 14/15 - 1
5-1254591-C-T c.2998G>A p.Gly1000Ser Missense 14/15 - 1
5-1254594-C-G c.2995G>C p.Ala999Pro Missense 14/15 - 1
5-1254594-C-T c.2995G>A p.Ala999Thr Missense 14/15 - 14
5-1254614-G-A c.2975C>T p.Ser992Leu Missense 14/15 - 1
5-1254620-C-T c.2969G>A p.Gly990Glu Missense 14/15 - 1
5-1255409-C-G c.2961G>C p.Lys987Asn Missense 13/15 - 1
5-1255435-G-A c.2935C>T p.Leu979Phe Missense 13/15 - 1
5-1255454-G-A c.2916C>T p.Val972Val Synonymous 13/15 - 1
5-1255456-C-A c.2914G>T p.Val972Phe Missense 13/15 - 1
5-1255456-C-T c.2914G>A p.Val972Ile Missense 13/15 - 1
5-1255458-C-T c.2912G>A p.Arg971His Missense 13/15 - 2
5-1255473-G-C c.2897C>G p.Pro966Arg Missense 13/15 - 1
5-1255492-G-C c.2878C>G p.Gln960Glu Missense 13/15 - 1
5-1255501-G-C c.2869C>G p.Pro957Ala Missense 13/15 - 1
5-1255520-G-A c.2850C>T p.His950His Synonymous 13/15 - 18
5-1255844-C-T c.2844-318G>A - IntronicSNV - 12/14 1
5-1256585-G-A c.2844-1059C>T - IntronicSNV - 12/14 1
5-1256585-G-C c.2844-1059C>G - IntronicSNV - 12/14 1
5-1257288-C-T c.2843+1425G>A - IntronicSNV - 12/14 2
5-1257621-G-A c.2843+1092C>T - IntronicSNV - 12/14 39
5-1258717-A-G c.2839T>C p.Tyr947His Missense 12/15 - 1
5-1258747-T-C c.2809A>G p.Asn937Asp Missense 12/15 - 1
5-1258756-C-T c.2800G>A p.Val934Met Missense 12/15 - 1
5-1258762-G-A c.2794C>T p.Gln932* Nonsense 12/15 - 1
5-1258822-T-C c.2782-48A>G - IntronicSNV - 11/14 1
5-1260195-T-C c.2781+394A>G - IntronicSNV - 11/14 16
5-1260608-CT-GA c.2761_2762delinsTC p.Ser921Ser Missense 11/15 - 2
5-1260608-CT-GC c.2761_2762delinsGC p.Ser921Ala Missense 11/15 - 2
5-1260624-G-A c.2746C>T p.Arg916Trp Missense 11/15 - 1
5-1260635-AAAGA-A c.2733_2736del p.Phe912Glyfs*5 Frameshift 11/15 - 1
5-1260644-CG-AC c.2725_2726delinsGT p.Arg909Val Missense 11/15 - 1
5-1260647-C-A c.2723G>T p.Arg908Leu Missense 11/15 - 1
5-1260652-G-A c.2718C>T p.Asn906Asn Synonymous 11/15 - 1
5-1260662-AG-A c.2708del p.Ala903Valfs*15 Frameshift 11/15 - 1
5-1260664-C-A c.2706G>T p.Lys902Asn Missense 11/15 - 8
5-1260664-C-G c.2706G>C p.Lys902Asn Missense 11/15 - 8
5-1260664-CT-GC c.2705_2706delinsGC p.Lys902Ser Missense 11/15 - 1
5-1260664-CTT-CAT c.2705delinsT p.Lys902Met Missense 11/15 - 1
5-1260664-CTT-GAC c.2704_2706delinsGTC p.Lys902Val Missense 11/15 - 1
5-1260664-CTT-TGT c.2705_2706delinsCA p.Lys902Thr Missense 11/15 - 1
5-1260664-CTT-TTT c.2706delinsA p.Lys902Lys Missense 11/15 - 1
5-1260665-T-C c.2705A>G p.Lys902Arg Missense 11/15 - 2
5-1260665-TT-GC c.2704_2705delinsGC p.Lys902Ala Missense 11/15 - 1
5-1260666-T-C c.2704A>G p.Lys902Glu Missense 11/15 - 1
5-1260666-T-G c.2704A>C p.Lys902Gln Missense 11/15 - 2
5-1260684-T-C c.2686A>G p.Thr896Ala Missense 11/15 - 1
5-1260687-G-A c.2683C>T p.Leu895Phe Missense 11/15 - 1
5-1260687-G-C c.2683C>G p.Leu895Val Missense 11/15 - 1
5-1260707-C-T c.2663G>A p.Arg888Gln Missense 11/15 - 1
5-1260708-G-A c.2662C>T p.Arg888Trp Missense 11/15 - 1
5-1260708-G-T c.2662C>A p.Arg888Arg Synonymous 11/15 - 1
5-1260715-G-C c.2655C>G p.Ser885Arg Missense 11/15 - 1
5-1260715-G-T c.2655C>A p.Ser885Arg Missense 11/15 - 1
5-1261052-G-A c.2655-337C>T - IntronicSNV - 10/14 3
5-1263408-T-C c.2655-2693A>G - IntronicSNV - 10/14 1
5-1263408-T-G c.2655-2693A>C - IntronicSNV - 10/14 1
5-1264068-C-T c.2654+2511G>A - IntronicSNV - 10/14 2
5-1264152-A-G c.2654+2427T>C - IntronicSNV - 10/14 1
5-1264587-G-A c.2654+1992C>T - IntronicSNV - 10/14 2
5-1264587-G-T c.2654+1992C>A - IntronicSNV - 10/14 2
5-1264594-G-A c.2654+1985C>T - IntronicSNV - 10/14 1
5-1264673-C-A c.2654+1906G>T - IntronicSNV - 10/14 1
5-1264673-C-T c.2654+1906G>A - IntronicSNV - 10/14 1
5-1265204-C-T c.2654+1375G>A - IntronicSNV - 10/14 6
5-1265373-G-A c.2654+1206C>T - IntronicSNV - 10/14 1
5-1265935-G-A c.2654+644C>T - IntronicSNV - 10/14 1
5-1266226-T-C c.2654+353A>G - IntronicSNV - 10/14 1
5-1266310-A-G c.2654+269T>C - IntronicSNV - 10/14 32
5-1266583-AGGA-A c.2650_2652del p.Leu884del InFrameDeletion 10/15 - 1
5-1266585-A-C c.2648T>G p.Phe883Cys Missense 10/15 - 3
5-1266586-A-T c.2647T>A p.Phe883Ile Missense 10/15 - 2
5-1266595-C-T c.2638G>A p.Ala880Thr Missense 10/15 - 4
5-1266601-T-C c.2632A>G p.Thr878Ala Missense 10/15 - 1
5-1266605-G-C c.2628C>G p.His876Gln Missense 10/15 - 3
5-1266605-G-T c.2628C>A p.His876Gln Missense 10/15 - 3
5-1266607-G-C c.2626C>G p.His876Asp Missense 10/15 - 1
5-1266608-GAGGTG-G c.2630_2634del p.Leu877Profs*97 Frameshift 10/15 - 1
5-1266612-G-C c.2621C>G p.Thr874Arg Missense 10/15 - 3
5-1266613-T-C c.2620A>G p.Thr874Ala Missense 10/15 - 2
5-1266622-A-C c.2611T>G p.Leu871Val Missense 10/15 - 1
5-1266627-T-C c.2606A>G p.Asp869Gly Missense 10/15 - 1
5-1266627-TC-AG c.2605_2606delinsCT p.Asp869Leu Missense 10/15 - 1
5-1266627-TC-CG c.2605_2606delinsCG p.Asp869Arg Missense 10/15 - 1
5-1266627-T-G c.2606A>C p.Asp869Ala Missense 10/15 - 4
5-1266629-ATC-AAG c.2602_2603delinsCT p.Asp868Leu Missense 10/15 - 1
5-1266630-T-A c.2603A>T p.Asp868Val Missense 10/15 - 1
5-1266630-T-C c.2603A>G p.Asp868Gly Missense 10/15 - 1
5-1266630-T-G c.2603A>C p.Asp868Ala Missense 10/15 - 16
5-1266631-C-T c.2602G>A p.Asp868Asn Missense 10/15 - 10
5-1266634-C-T c.2599G>A p.Val867Met Missense 10/15 - 10
5-1266635-CA-AT c.2597_2598delinsAT p.Leu866Tyr Missense 10/15 - 3
5-1266636-AA-GC c.2596_2597delinsGC p.Leu866Ala Missense 10/15 - 1
5-1266639-CG-GC c.2593_2594delinsGC p.Arg865Ala Missense 10/15 - 1
5-1266639-C-T c.2594G>A p.Arg865His Missense 10/15 - 20
5-1266640-G-A c.2593C>T p.Arg865Cys Missense 10/15 - 6
5-1266640-G-C c.2593C>G p.Arg865Gly Missense 10/15 - 1
5-1266642-A-G c.2591T>C p.Leu864Pro Missense 10/15 - 2
5-1266645-AG-GC c.2587_2588delinsGC p.Leu863Ala Missense 10/15 - 1
5-1267202-C-G c.2583-552G>C - IntronicSNV - 9/14 3
5-1267356-T-A c.2583-706A>T - IntronicSNV - 9/14 35
5-1268636-C-T c.2581G>A p.Gly861Arg Missense 9/15 - 2
5-1268644-C-T c.2573G>A p.Arg858Gln Missense 9/15 - 2
5-1268645-G-A c.2572C>T p.Arg858Trp Missense 9/15 - 4
5-1268653-G-A c.2564C>T p.Ala855Val Missense 9/15 - 2
5-1268663-T-A c.2554A>T p.Lys852* Nonsense 9/15 - 1
5-1268668-T-G c.2549A>C p.Glu850Ala Missense 9/15 - 1
5-1268678-C-T c.2539G>A p.Gly847Ser Missense 9/15 - 3
5-1268680-T-C c.2537A>G p.Tyr846Cys Missense 9/15 - 4
5-1268693-A-G c.2524T>C p.Cys842Arg Missense 9/15 - 1
5-1268696-G-A c.2521C>T p.Leu841Phe Missense 9/15 - 4
5-1268698-AG-GC c.2518_2519delinsGC p.Leu840Ala Missense 9/15 - 1
5-1268700-C-G c.2517G>C p.Thr839Thr Synonymous 9/15 - 1
5-1268700-C-T c.2517G>A p.Thr839Thr Synonymous 9/15 - 2
5-1268701-G-A c.2516C>T p.Thr839Met Missense 9/15 - 1
5-1268701-G-C c.2516C>G p.Thr839Arg Missense 9/15 - 1
5-1268701-G-T c.2516C>A p.Thr839Lys Missense 9/15 - 1
5-1268707-AG-GC c.2509_2510delinsGC p.Leu837Ala Missense 9/15 - 1
5-1268719-T-C c.2498A>G p.Gln833Arg Missense 9/15 - 1
5-1268741-C-T c.2476G>A p.Val826Ile Missense 9/15 - 1
5-1268743-T-C c.2474A>G p.Tyr825Cys Missense 9/15 - 1
5-1268746-GA-CG c.2470_2471delinsCG p.Ser824Arg Missense 9/15 - 1
5-1268750-T-A c.2469-2A>T - IntronicSNV - 8/14 2
5-1269006-T-C c.2469-258A>G - IntronicSNV - 8/14 2
5-1269365-G-A c.2469-617C>T - IntronicSNV - 8/14 4
5-1270983-C-G c.2468+251G>C - IntronicSNV - 8/14 5
5-1271239-CCT-CAT c.2462delinsT p.Arg821Met Missense 8/15 - 1
5-1271240-C-T c.2462G>A p.Arg821Lys Missense 8/15 - 1
5-1271244-T-C c.2458A>G p.Ile820Val Missense 8/15 - 1
5-1271246-C-T c.2456G>A p.Arg819His Missense 8/15 - 1
5-1271253-C-T c.2449G>A p.Ala817Thr Missense 8/15 - 1
5-1271254-G-A c.2448C>T p.His816His Synonymous 8/15 - 1
5-1271263-C-A c.2439G>T p.Met813Ile Missense 8/15 - 1
5-1271263-C-G c.2439G>C p.Met813Ile Missense 8/15 - 1
5-1271263-C-T c.2439G>A p.Met813Ile Missense 8/15 - 1
5-1271271-G-A c.2431C>T p.Arg811Cys Missense 8/15 - 6
5-1271288-AG-GC c.2413_2414delinsGC p.Leu805Ala Missense 8/15 - 4
5-1271292-C-T c.2410G>A p.Gly804Ser Missense 8/15 - 1
5-1271295-T-C c.2407A>G p.Ser803Gly Missense 8/15 - 1
5-1271303-T-C c.2399A>G p.Glu800Gly Missense 8/15 - 1
5-1271303-TC-AT c.2398_2399delinsAT p.Glu800Met Missense 8/15 - 1
5-1271315-G-A c.2387C>T p.Ser796Phe Missense 8/15 - 1
5-1271315-G-T c.2387C>A p.Ser796Tyr Missense 8/15 - 1
5-1271316-A-G c.2386T>C p.Ser796Pro Missense 8/15 - 1
5-1271318-CT-CC c.2383delinsG p.Ser795Gly Missense 8/15 - 1
5-1271524-T-C c.2383-205A>G - IntronicSNV - 7/14 7
5-1271661-T-C c.2383-342A>G - IntronicSNV - 7/14 10
5-1272074-C-T c.2382+226G>A - IntronicSNV - 7/14 1
5-1272310-AC-TA c.2371_2372delinsTA p.Val791Tyr Missense 7/15 - 4
5-1272311-C-T c.2371G>A p.Val791Ile Missense 7/15 - 7
5-1272321-CCT-TGT c.2360_2361delinsCA p.Arg787Thr Missense 7/15 - 1
5-1272328-G-A c.2354C>T p.Pro785Leu Missense 7/15 - 2
5-1272339-C-A c.2343G>T p.Gln781His Missense 7/15 - 1
5-1272339-C-G c.2343G>C p.Gln781His Missense 7/15 - 1
5-1272351-CAC-ACCTAC c.2331delinsAGGT p.Val777_Ala778insGly MultiAAMissense 7/15 - 1
5-1272353-C-A c.2329G>T p.Val777Leu Missense 7/15 - 4
5-1272353-C-CTCA c.2328_2329insTGA p.Phe776_Val777ins* Nonsense 7/15 - 1
5-1272353-C-G c.2329G>C p.Val777Leu Missense 7/15 - 4
5-1272353-C-T c.2329G>A p.Val777Met Missense 7/15 - 2
5-1272362-G-A c.2320C>T p.Arg774* Nonsense 7/15 - 1
5-1272364-A-G c.2318T>C p.Met773Thr Missense 7/15 - 4
5-1272367-T-C c.2315A>G p.Tyr772Cys Missense 7/15 - 4
5-1272375-G-A c.2307C>T p.Leu769Leu Synonymous 7/15 - 1
5-1272375-G-C c.2307C>G p.Leu769Leu Synonymous 7/15 - 1
5-1272377-G-T c.2305C>A p.Leu769Ile Missense 7/15 - 1
5-1272394-AC-AG c.2287delinsC p.Val763Leu Missense 7/15 - 2
5-1272400-C-T c.2287-5G>A - IntronicSNV - 6/14 1
5-1272701-T-A c.2287-306A>T - IntronicSNV - 6/14 1
5-1272701-T-C c.2287-306A>G - IntronicSNV - 6/14 1
5-1275528-C-A c.2287-3133G>T - IntronicSNV - 6/14 28
5-1275857-T-C c.2286+2899A>G - IntronicSNV - 6/14 1
5-1275887-T-C c.2286+2869A>G - IntronicSNV - 6/14 1
5-1276324-G-A c.2286+2432C>T - IntronicSNV - 6/14 1
5-1276785-C-T c.2286+1971G>A - IntronicSNV - 6/14 1
5-1276873-G-A c.2286+1883C>T - IntronicSNV - 6/14 5
5-1277577-G-A c.2286+1179C>T - IntronicSNV - 6/14 7
5-1278584-C-T c.2286+172G>A - IntronicSNV - 6/14 2
5-1278755-C-T c.2286+1G>A - IntronicSNV - 6/14 1
5-1278769-G-A c.2273C>T p.Ala758Val Missense 6/15 - 1
5-1278776-G-A c.2266C>T p.Arg756Cys Missense 6/15 - 5
5-1278792-CGGC-C c.2251_2253del p.Ala751del InFrameDeletion 6/15 - 1
5-1278794-C-G c.2248G>C p.Ala750Pro Missense 6/15 - 1
5-1278802-GA-G c.2240del p.Val747Alafs*20 Frameshift 6/15 - 5
5-1278804-C-A c.2238G>T p.Val746Val Synonymous 6/15 - 1
5-1278804-C-G c.2238G>C p.Val746Val Synonymous 6/15 - 1
5-1278804-C-T c.2238G>A p.Val746Val Synonymous 6/15 - 1
5-1278806-C-A c.2236G>T p.Val746Leu Missense 6/15 - 1
5-1278806-C-G c.2236G>C p.Val746Leu Missense 6/15 - 1
5-1278817-C-T c.2225G>A p.Arg742His Missense 6/15 - 4
5-1278818-G-A c.2224C>T p.Arg742Cys Missense 6/15 - 1
5-1278854-C-T c.2188G>A p.Ala730Thr Missense 6/15 - 1
5-1278857-ATGA-A c.2185_2187del p.Ile729del InFrameDeletion 6/15 - 1
5-1278863-C-T c.2179G>A p.Glu727Lys Missense 6/15 - 1
5-1278864-C-A c.2178G>T p.Thr726Thr Synonymous 6/15 - 1
5-1278864-C-G c.2178G>C p.Thr726Thr Synonymous 6/15 - 1
5-1278864-CG-TC c.2177_2178delinsGA p.Thr726Arg Missense 6/15 - 1
5-1278864-C-T c.2178G>A p.Thr726Thr Synonymous 6/15 - 1
5-1278865-G-A c.2177C>T p.Thr726Met Missense 6/15 - 6
5-1278865-G-C c.2177C>G p.Thr726Arg Missense 6/15 - 1
5-1278869-G-A c.2173C>T p.Leu725Phe Missense 6/15 - 1
5-1278880-G-C c.2162C>G p.Pro721Arg Missense 6/15 - 5
5-1278888-G-A c.2154C>T p.Asp718Asp Synonymous 6/15 - 1
5-1278889-TC-CT c.2152_2153delinsAG p.Asp718Ser Missense 6/15 - 1
5-1278890-C-T c.2152G>A p.Asp718Asn Missense 6/15 - 1
5-1278892-T-A c.2150A>T p.Tyr717Phe Missense 6/15 - 1
5-1278892-TA-CG c.2149_2150delinsCG p.Tyr717Arg Missense 6/15 - 1
5-1278892-TA-GC c.2149_2150delinsGC p.Tyr717Ala Missense 6/15 - 2
5-1278892-TA-GG c.2149_2150delinsCC p.Tyr717Pro Missense 6/15 - 1
5-1278893-A-C c.2149T>G p.Tyr717Asp Missense 6/15 - 1
5-1278893-A-G c.2149T>C p.Tyr717His Missense 6/15 - 1
5-1278893-A-T c.2149T>A p.Tyr717Asn Missense 6/15 - 1
5-1278895-G-A c.2147C>T p.Ala716Val Missense 6/15 - 4
5-1278896-C-A c.2146G>T p.Ala716Ser Missense 6/15 - 1
5-1278896-C-T c.2146G>A p.Ala716Thr Missense 6/15 - 5
5-1278903-CAC-ATC c.2138_2139delinsAT p.Val713Asp Missense 6/15 - 2
5-1278906-ATC-CAA c.2134_2136delinsTTG p.Asp712Leu Missense 6/15 - 1
5-1278907-TC-TG c.2134delinsC p.Asp712His Missense 6/15 - 1
5-1278907-T-G c.2135A>C p.Asp712Ala Missense 6/15 - 15
5-1278911-C-A c.2131G>T p.Val711Leu Missense 6/15 - 1
5-1279224-T-C c.2130+182A>G - IntronicSNV - 5/14 1
5-1279224-T-G c.2130+182A>C - IntronicSNV - 5/14 1
5-1279406-C-A c.2130G>T p.Lys710Asn Missense 5/15 - 1
5-1279406-C-G c.2130G>C p.Lys710Asn Missense 5/15 - 1
5-1279406-CT-GC c.2129_2130delinsGC p.Lys710Ser Missense 5/15 - 1
5-1279406-CTT-GAC c.2128_2130delinsGTC p.Lys710Val Missense 5/15 - 1
5-1279406-CTT-TAT c.2129_2130delinsTA p.Lys710Ile Missense 5/15 - 1
5-1279406-CTT-TGT c.2129_2130delinsCA p.Lys710Thr Missense 5/15 - 1
5-1279406-CTT-TTT c.2130delinsA p.Lys710Lys Missense 5/15 - 1
5-1279407-T-A c.2129A>T p.Lys710Met Missense 5/15 - 1
5-1279407-T-C c.2129A>G p.Lys710Arg Missense 5/15 - 1
5-1279407-TT-GC c.2128_2129delinsGC p.Lys710Ala Missense 5/15 - 1
5-1279407-TT-GG c.2128_2129delinsCC p.Lys710Pro Missense 5/15 - 1
5-1279408-T-C c.2128A>G p.Lys710Glu Missense 5/15 - 1
5-1279408-T-G c.2128A>C p.Lys710Gln Missense 5/15 - 1
5-1279410-A-G c.2126T>C p.Val709Ala Missense 5/15 - 1
5-1279416-T-A c.2120A>T p.Tyr707Phe Missense 5/15 - 3
5-1279423-C-A c.2113G>T p.Glu705* Nonsense 5/15 - 1
5-1279423-C-G c.2113G>C p.Glu705Gln Missense 5/15 - 1
5-1279426-G-A c.2110C>T p.Pro704Ser Missense 5/15 - 20
5-1279430-C-T c.2106G>A p.Pro702Pro Synonymous 5/15 - 2
5-1279431-G-A c.2105C>T p.Pro702Leu Missense 5/15 - 4
5-1279432-G-A c.2104C>T p.Pro702Ser Missense 5/15 - 1
5-1279439-G-A c.2097C>T p.Ala699Ala Synonymous 5/15 - 4
5-1279439-G-C c.2097C>G p.Ala699Ala Synonymous 5/15 - 1
5-1279439-G-T c.2097C>A p.Ala699Ala Synonymous 5/15 - 1
5-1279444-G-A c.2092C>T p.Arg698Trp Missense 5/15 - 1
5-1279446-A-G c.2090T>C p.Val697Ala Missense 5/15 - 1
5-1279450-G-A c.2086C>T p.Arg696Cys Missense 5/15 - 1
5-1279453-G-C c.2083C>G p.Leu695Val Missense 5/15 - 1
5-1279453-G-GA c.2082_2083insT p.Leu695Serfs*11 Frameshift 5/15 - 1
5-1279455-A-T c.2081T>A p.Val694Glu Missense 5/15 - 3
5-1279456-C-T c.2080G>A p.Val694Met Missense 5/15 - 11
5-1279458-AA-GC c.2077_2078delinsGC p.Phe693Ala Missense 5/15 - 2
5-1279458-A-T c.2078T>A p.Phe693Tyr Missense 5/15 - 1
5-1279459-A-T c.2077T>A p.Phe693Ile Missense 5/15 - 1
5-1279465-G-A c.2071C>T p.Arg691Cys Missense 5/15 - 1
5-1279467-CA-GC c.2068_2069delinsGC p.Trp690Ala Missense 5/15 - 1
5-1279467-C-G c.2069G>C p.Trp690Ser Missense 5/15 - 2
5-1279473-C-G c.2063G>C p.Arg688Thr Missense 5/15 - 1
5-1279478-G-C c.2058C>G p.Ile686Met Missense 5/15 - 1
5-1279479-AT-GC c.2056_2057delinsGC p.Ile686Ala Missense 5/15 - 2
5-1279483-C-T c.2053G>A p.Asp685Asn Missense 5/15 - 2
5-1279485-T-C c.2051A>G p.Asp684Gly Missense 5/15 - 3
5-1279485-T-G c.2051A>C p.Asp684Ala Missense 5/15 - 4
5-1279491-C-G c.2045G>C p.Gly682Ala Missense 5/15 - 2
5-1279491-C-T c.2045G>A p.Gly682Asp Missense 5/15 - 3
5-1279494-AG-GC c.2041_2042delinsGC p.Leu681Ala Missense 5/15 - 3
5-1279501-A-C c.2035T>G p.Ser679Ala Missense 5/15 - 1
5-1279503-G-T c.2033C>A p.Ala678Asp Missense 5/15 - 3
5-1279505-G-A c.2031C>T p.Gly677Gly Synonymous 5/15 - 2
5-1279506-C-T c.2030G>A p.Gly677Asp Missense 5/15 - 1
5-1279509-AG-GC c.2026_2027delinsGC p.Leu676Ala Missense 5/15 - 1
5-1279515-C-G c.2021G>C p.Gly674Ala Missense 5/15 - 1
5-1279515-C-T c.2021G>A p.Gly674Asp Missense 5/15 - 1
5-1279516-C-T c.2020G>A p.Gly674Ser Missense 5/15 - 1
5-1279520-GGCG-G c.2015_2017del p.Arg672del InFrameDeletion 5/15 - 1
5-1279521-C-T c.2015G>A p.Arg672His Missense 5/15 - 1
5-1279522-G-A c.2014C>T p.Arg672Cys Missense 5/15 - 1
5-1279523-C-A c.2013G>T p.Arg671Arg Synonymous 5/15 - 1
5-1279523-C-T c.2013G>A p.Arg671Arg Synonymous 5/15 - 1
5-1279525-G-A c.2011C>T p.Arg671Trp Missense 5/15 - 4
5-1279525-G-C c.2011C>G p.Arg671Gly Missense 5/15 - 1
5-1279527-G-A c.2009C>T p.Ala670Val Missense 5/15 - 1
5-1279527-G-C c.2009C>G p.Ala670Gly Missense 5/15 - 1
5-1279530-C-A c.2006G>T p.Arg669Leu Missense 5/15 - 1
5-1279530-CG-GC c.2005_2006delinsGC p.Arg669Ala Missense 5/15 - 4
5-1279530-C-T c.2006G>A p.Arg669Gln Missense 5/15 - 3
5-1279531-G-A c.2005C>T p.Arg669Trp Missense 5/15 - 2
5-1279532-C-A c.2004G>T p.Glu668Asp Missense 5/15 - 3
5-1279532-C-G c.2004G>C p.Glu668Asp Missense 5/15 - 3
5-1279533-T-G c.2003A>C p.Glu668Ala Missense 5/15 - 1
5-1279535-G-T c.2001C>A p.Tyr667* Nonsense 5/15 - 1
5-1279539-TT-GC c.1996_1997delinsGC p.Asn666Ala Missense 5/15 - 2
5-1279540-T-C c.1996A>G p.Asn666Asp Missense 5/15 - 1
5-1279542-AG-GC c.1993_1994delinsGC p.Leu665Ala Missense 5/15 - 1
5-1279543-G-T c.1993C>A p.Leu665Ile Missense 5/15 - 1
5-1279545-A-G c.1991T>C p.Val664Ala Missense 5/15 - 1
5-1279546-C-G c.1990G>C p.Val664Leu Missense 5/15 - 2
5-1279547-G-C c.1989C>G p.Ser663Arg Missense 5/15 - 2
5-1279547-G-T c.1989C>A p.Ser663Arg Missense 5/15 - 2
5-1279549-T-G c.1987A>C p.Ser663Arg Missense 5/15 - 2
5-1279548-C-T c.1988G>A p.Ser663Asn Missense 5/15 - 1
5-1279554-AG-GC c.1981_1982delinsGC p.Leu661Ala Missense 5/15 - 1
5-1279555-G-T c.1981C>A p.Leu661Met Missense 5/15 - 1
5-1279560-TT-GC c.1975_1976delinsGC p.Lys659Ala Missense 5/15 - 2
5-1279563-A-G c.1973T>C p.Val658Ala Missense 5/15 - 2
5-1279567-T-A c.1969A>T p.Arg657Trp Missense 5/15 - 1
5-1279570-A-G c.1966T>C p.Ser656Pro Missense 5/15 - 1
5-1279579-G-A c.1957C>T p.Arg653Cys Missense 5/15 - 1
5-1279583-G-A c.1953C>T p.Ala651Ala Synonymous 5/15 - 1
5-1279612-C-T c.1951-27G>A - IntronicSNV - 4/14 1
5-1279639-A-G c.1951-54T>C - IntronicSNV - 4/14 1
5-1279790-C-T c.1951-205G>A - IntronicSNV - 4/14 210
5-1279964-G-A c.1950+309C>T - IntronicSNV - 4/14 6
5-1279964-G-C c.1950+309C>G - IntronicSNV - 4/14 6
5-1279964-G-T c.1950+309C>A - IntronicSNV - 4/14 6
5-1280028-G-A c.1950+245C>T - IntronicSNV - 4/14 107
5-1280128-T-C c.1950+145A>G - IntronicSNV - 4/14 15
5-1280287-G-A c.1936C>T p.Arg646Cys Missense 4/15 - 1
5-1280292-G-A c.1931C>T p.Thr644Met Missense 4/15 - 2
5-1280295-C-G c.1928G>C p.Arg643Thr Missense 4/15 - 1
5-1280313-T-C c.1910A>G p.Asp637Gly Missense 4/15 - 1
5-1280328-G-A c.1895C>T p.Pro632Leu Missense 4/15 - 3
5-1280330-CCG-AGC c.1891_1893delinsGCT p.Arg631Ala Missense 4/15 - 1
5-1280331-C-G c.1892G>C p.Arg631Pro Missense 4/15 - 1
5-1280331-CG-GC c.1891_1892delinsGC p.Arg631Ala Missense 4/15 - 2
5-1280331-C-T c.1892G>A p.Arg631Gln Missense 4/15 - 14
5-1280332-G-A c.1891C>T p.Arg631Trp Missense 4/15 - 2
5-1280338-C-G c.1885G>C p.Gly629Arg Missense 4/15 - 2
5-1280338-C-T c.1885G>A p.Gly629Arg Missense 4/15 - 2
5-1280340-T-G c.1883A>C p.Asp628Ala Missense 4/15 - 1
5-1280345-C-A c.1878G>T p.Lys626Asn Missense 4/15 - 1
5-1280345-C-G c.1878G>C p.Lys626Asn Missense 4/15 - 1
5-1280346-TT-GC c.1876_1877delinsGC p.Lys626Ala Missense 4/15 - 3
5-1280347-T-G c.1876A>C p.Lys626Gln Missense 4/15 - 1
5-1280353-AT-A c.1870del p.Ile624Serfs*11 Frameshift 4/15 - 1
5-1280358-C-T c.1865G>A p.Arg622His Missense 4/15 - 1
5-1280380-C-T c.1843G>A p.Ala615Thr Missense 4/15 - 2
5-1280382-G-C c.1841C>G p.Pro614Arg Missense 4/15 - 1
5-1280385-CT-CA c.1837delinsT p.Arg613Trp Missense 4/15 - 1
5-1280385-CT-TA c.1837_1838delinsTA p.Arg613* Nonsense 4/15 - 1
5-1280387-G-C c.1836C>G p.Ala612Ala Synonymous 4/15 - 1
5-1280391-T-C c.1832A>G p.Glu611Gly Missense 4/15 - 1
5-1280399-C-A c.1824G>T p.Gln608His Missense 4/15 - 1
5-1280399-C-G c.1824G>C p.Gln608His Missense 4/15 - 1
5-1280403-C-T c.1820G>A p.Arg607Lys Missense 4/15 - 1
5-1280403-CT-CA c.1819delinsT p.Arg607Trp Missense 4/15 - 1
5-1280411-T-A c.1812A>T p.Ala604Ala Synonymous 4/15 - 1
5-1280411-T-C c.1812A>G p.Ala604Ala Synonymous 4/15 - 4
5-1280411-T-G c.1812A>C p.Ala604Ala Synonymous 4/15 - 1
5-1280417-CG-TT c.1805_1806delinsAA p.Ser602* Missense 4/15 - 1
5-1280418-G-A c.1805C>T p.Ser602Leu Missense 4/15 - 2
5-1280424-T-A c.1799A>T p.Glu600Val Missense 4/15 - 2
5-1280425-C-T c.1798G>A p.Glu600Lys Missense 4/15 - 1
5-1280427-C-T c.1796G>A p.Arg599Gln Missense 4/15 - 2
5-1280428-CGC-C c.1795_1796del p.Arg599Glyfs*29 Frameshift 4/15 - 1
5-1280448-T-C c.1775A>G p.His592Arg Missense 4/15 - 1
5-1280449-G-T c.1774C>A p.His592Asn Missense 4/15 - 1
5-1280452-G-C c.1771C>G p.Gln591Glu Missense 4/15 - 1
5-1280455-T-C c.1770-2A>G - IntronicSNV - 3/14 1
5-1280477-G-A c.1770-24C>T - IntronicSNV - 3/14 18
5-1280830-G-C c.1770-377C>G - IntronicSNV - 3/14 8
5-1280938-A-G c.1770-485T>C - IntronicSNV - 3/14 1
5-1281890-T-C c.1769+654A>G - IntronicSNV - 3/14 1
5-1282159-T-C c.1769+385A>G - IntronicSNV - 3/14 1
5-1282319-C-A c.1769+225G>T - IntronicSNV - 3/14 60
5-1282414-G-A c.1769+130C>T - IntronicSNV - 3/14 25
5-1282543-C-T c.1769+1G>A - IntronicSNV - 3/14 1
5-1282550-C-T c.1763G>A p.Gly588Glu Missense 3/15 - 1
5-1282553-A-G c.1760T>C p.Ile587Thr Missense 3/15 - 1
5-1282571-CC-C c.1743del p.Trp581* Frameshift 3/15 - 1
5-1282584-G-C c.1729C>G p.Arg577Gly Missense 3/15 - 1
5-1282594-G-T c.1719C>A p.Leu573Leu Synonymous 3/15 - 1
5-1282600-G-C c.1713C>G p.Asn571Lys Missense 3/15 - 1
5-1282600-G-T c.1713C>A p.Asn571Lys Missense 3/15 - 1
5-1282603-C-A c.1710G>T p.Lys570Asn Missense 3/15 - 9
5-1282603-C-G c.1710G>C p.Lys570Asn Missense 3/15 - 11
5-1282608-G-A c.1705C>T p.Gln569* Nonsense 3/15 - 1
5-1282613-G-A c.1700C>T p.Thr567Met Missense 3/15 - 1
5-1282619-T-G c.1694A>C p.Glu565Ala Missense 3/15 - 1
5-1282622-G-A c.1691C>T p.Thr564Met Missense 3/15 - 1
5-1282623-T-A c.1690A>T p.Thr564Ser Missense 3/15 - 1
5-1282623-T-C c.1690A>G p.Thr564Ala Missense 3/15 - 1
5-1282625-AC-AG c.1687delinsC p.Val563Leu Missense 3/15 - 1
5-1282625-A-G c.1688T>C p.Val563Ala Missense 3/15 - 1
5-1282626-ACA-A c.1687_1688del p.Val563Hisfs*65 Frameshift 3/15 - 1
5-1282626-C-G c.1687G>C p.Val563Leu Missense 3/15 - 1
5-1282628-T-A c.1685A>T p.Tyr562Phe Missense 3/15 - 1
5-1282628-TA-AC c.1684_1685delinsGT p.Tyr562Val Missense 3/15 - 1
5-1282628-TA-GC c.1684_1685delinsGC p.Tyr562Ala Missense 3/15 - 1
5-1282631-AA-GC c.1681_1682delinsGC p.Phe561Ala Missense 3/15 - 1
5-1282634-AA-GC c.1678_1679delinsGC p.Phe560Ala Missense 3/15 - 2
5-1282634-A-T c.1679T>A p.Phe560Tyr Missense 3/15 - 1
5-1282640-CT-CA c.1672delinsT p.Arg558Trp Missense 3/15 - 1
5-1282642-GAG-ATG c.1670_1671delinsAT p.Leu557His Missense 3/15 - 1
5-1282643-A-G c.1670T>C p.Leu557Pro Missense 3/15 - 1
5-1282654-G-A c.1659C>T p.Val553Val Synonymous 3/15 - 2
5-1282662-C-T c.1651G>A p.Val551Met Missense 3/15 - 1
5-1282688-G-A c.1625C>T p.Ala542Val Missense 3/15 - 2
5-1282701-C-G c.1612G>C p.Glu538Gln Missense 3/15 - 1
5-1282703-C-T c.1610G>A p.Arg537His Missense 3/15 - 2
5-1282704-G-A c.1609C>T p.Arg537Cys Missense 3/15 - 2
5-1282705-CAG-TTT c.1606_1608delinsAAA p.Leu536Lys Missense 3/15 - 1
5-1282707-G-C c.1606C>G p.Leu536Val Missense 3/15 - 1
5-1282710-G-A c.1603C>T p.Arg535Cys Missense 3/15 - 2
5-1282719-C-A c.1594G>T p.Ala532Ser Missense 3/15 - 1
5-1282719-C-T c.1594G>A p.Ala532Thr Missense 3/15 - 1
5-1282723-C-A c.1590G>T p.Pro530Pro Synonymous 3/15 - 1
5-1282723-C-G c.1590G>C p.Pro530Pro Synonymous 3/15 - 1
5-1282723-C-T c.1590G>A p.Pro530Pro Synonymous 3/15 - 1
5-1282724-G-A c.1589C>T p.Pro530Leu Missense 3/15 - 4
5-1282724-G-C c.1589C>G p.Pro530Arg Missense 3/15 - 1
5-1282732-AG-A c.1581del p.Cys528Valfs*21 Frameshift 3/15 - 1
5-1282746-C-T c.1574-7G>A - IntronicSNV - 2/14 1
5-1283104-T-A c.1574-365A>T - IntronicSNV - 2/14 1
5-1283104-T-C c.1574-365A>G - IntronicSNV - 2/14 1
5-1283104-T-G c.1574-365A>C - IntronicSNV - 2/14 1
5-1283312-A-C c.1574-573T>G - IntronicSNV - 2/14 6
5-1283312-A-G c.1574-573T>C - IntronicSNV - 2/14 6
5-1283486-T-A c.1574-747A>T - IntronicSNV - 2/14 5
5-1283486-T-C c.1574-747A>G - IntronicSNV - 2/14 5
5-1283755-C-A c.1574-1016G>T - IntronicSNV - 2/14 10
5-1283755-C-T c.1574-1016G>A - IntronicSNV - 2/14 10
5-1283841-A-C c.1574-1102T>G - IntronicSNV - 2/14 1
5-1283841-A-G c.1574-1102T>C - IntronicSNV - 2/14 1
5-1283841-A-T c.1574-1102T>A - IntronicSNV - 2/14 1
5-1284046-T-A c.1574-1307A>T - IntronicSNV - 2/14 2
5-1284046-T-C c.1574-1307A>G - IntronicSNV - 2/14 2
5-1284046-T-G c.1574-1307A>C - IntronicSNV - 2/14 2
5-1284135-C-T c.1574-1396G>A - IntronicSNV - 2/14 12
5-1284653-G-A c.1574-1914C>T - IntronicSNV - 2/14 2
5-1284976-C-G c.1574-2237G>C - IntronicSNV - 2/14 6
5-1284976-C-T c.1574-2237G>A - IntronicSNV - 2/14 6
5-1285162-C-T c.1574-2423G>A - IntronicSNV - 2/14 3
5-1285974-C-A c.1574-3235G>T - IntronicSNV - 2/14 51
5-1285974-C-T c.1574-3235G>A - IntronicSNV - 2/14 51
5-1286032-G-A c.1574-3293C>T - IntronicSNV - 2/14 1
5-1286037-C-T c.1574-3298G>A - IntronicSNV - 2/14 1
5-1286477-G-A c.1574-3738C>T - IntronicSNV - 2/14 1
5-1286477-G-T c.1574-3738C>A - IntronicSNV - 2/14 1
5-1286516-C-A c.1574-3777G>T - IntronicSNV - 2/14 437
5-1287002-G-A c.1574-4263C>T - IntronicSNV - 2/14 2
5-1287194-G-A c.1574-4455C>T - IntronicSNV - 2/14 91
5-1287290-C-T c.1574-4551G>A - IntronicSNV - 2/14 1
5-1287340-A-G c.1574-4601T>C - IntronicSNV - 2/14 10
5-1287505-T-C c.1574-4766A>G - IntronicSNV - 2/14 3
5-1288547-T-A c.1573+4881A>T - IntronicSNV - 2/14 110
5-1288547-T-C c.1573+4881A>G - IntronicSNV - 2/14 110
5-1289495-G-A c.1573+3933C>T - IntronicSNV - 2/14 1
5-1289495-G-C c.1573+3933C>G - IntronicSNV - 2/14 1
5-1289495-G-T c.1573+3933C>A - IntronicSNV - 2/14 1
5-1290319-T-A c.1573+3109A>T - IntronicSNV - 2/14 1
5-1290319-T-G c.1573+3109A>C - IntronicSNV - 2/14 1
5-1290350-A-G c.1573+3078T>C - IntronicSNV - 2/14 1
5-1291131-C-A c.1573+2297G>T - IntronicSNV - 2/14 1
5-1291131-C-G c.1573+2297G>C - IntronicSNV - 2/14 1
5-1291333-C-CC c.1573+2096dup - IntronicInsertion - 2/14 1
5-1291424-G-A c.1573+2004C>T - IntronicSNV - 2/14 1
5-1291424-G-C c.1573+2004C>G - IntronicSNV - 2/14 1
5-1291735-G-A c.1573+1693C>T - IntronicSNV - 2/14 1
5-1291735-G-C c.1573+1693C>G - IntronicSNV - 2/14 1
5-1291740-G-C c.1573+1688C>G - IntronicSNV - 2/14 2
5-1291740-G-T c.1573+1688C>A - IntronicSNV - 2/14 2
5-1292118-G-A c.1573+1310C>T - IntronicSNV - 2/14 2
5-1292299-G-A c.1573+1129C>T - IntronicSNV - 2/14 2
5-1292958-C-T c.1573+470G>A - IntronicSNV - 2/14 3
5-1292983-C-A c.1573+445G>T - IntronicSNV - 2/14 16
5-1292983-C-G c.1573+445G>C - IntronicSNV - 2/14 16
5-1293389-C-G c.1573+39G>C - IntronicSNV - 2/14 3
5-1293431-G-C c.1570C>G p.Pro524Ala Missense 2/15 - 1
5-1293436-C-T c.1565G>A p.Arg522Lys Missense 2/15 - 3
5-1293451-CA-AC c.1549_1550delinsGT p.Cys517Val Missense 2/15 - 1
5-1293457-C-T c.1544G>A p.Arg515Gln Missense 2/15 - 1
5-1293472-CC-C c.1530del p.Trp510* Frameshift 2/15 - 1
5-1293481-T-A c.1520A>T p.Glu507Val Missense 2/15 - 1
5-1293493-A-G c.1508T>C p.Leu503Pro Missense 2/15 - 1
5-1293509-C-G c.1492G>C p.Gly498Arg Missense 2/15 - 1
5-1293509-C-T c.1492G>A p.Gly498Arg Missense 2/15 - 1
5-1293514-GA-AT c.1486_1487delinsAT p.Ser496Ile Missense 2/15 - 1
5-1293518-AT-A c.1483del p.Ile495Serfs*14 Frameshift 2/15 - 1
5-1293530-T-G c.1471A>C p.Thr491Pro Missense 2/15 - 1
5-1293543-GCG-TGG c.1457_1458delinsCA p.Arg486Pro Missense 2/15 - 1
5-1293545-G-A c.1456C>T p.Arg486Cys Missense 2/15 - 8
5-1293556-GT-G c.1445del p.His482Profs*27 Frameshift 2/15 - 1
5-1293563-A-G c.1438T>C p.Ser480Pro Missense 2/15 - 1
5-1293570-G-A c.1431C>T p.Leu477Leu Synonymous 2/15 - 1
5-1293570-G-C c.1431C>G p.Leu477Leu Synonymous 2/15 - 1
5-1293570-G-T c.1431C>A p.Leu477Leu Synonymous 2/15 - 1
5-1293581-G-A c.1420C>T p.Pro474Ser Missense 2/15 - 1
5-1293581-G-C c.1420C>G p.Pro474Ala Missense 2/15 - 1
5-1293584-C-G c.1417G>C p.Val473Leu Missense 2/15 - 2
5-1293588-CCG-TGT c.1411_1413delinsACA p.Arg471Thr Missense 2/15 - 1
5-1293592-C-T c.1409G>A p.Arg470His Missense 2/15 - 1
5-1293602-C-T c.1399G>A p.Ala467Thr Missense 2/15 - 1
5-1293604-C-G c.1397G>C p.Arg466Pro Missense 2/15 - 2
5-1293608-C-A c.1393G>T p.Val465Leu Missense 2/15 - 1
5-1293608-C-G c.1393G>C p.Val465Leu Missense 2/15 - 1
5-1293609-G-A c.1392C>T p.Phe464Phe Synonymous 2/15 - 1
5-1293631-CT-GC c.1369_1370delinsGC p.Ser457Ala Missense 2/15 - 1
5-1293632-T-TTCC c.1368_1369insGGA p.Ser456_Ser457insGly InFrameInsertion 2/15 - 1
5-1293642-GCG-TGG c.1358_1359delinsCA p.Arg453Pro Missense 2/15 - 1
5-1293643-C-T c.1358G>A p.Arg453His Missense 2/15 - 1
5-1293647-G-C c.1354C>G p.Leu452Val Missense 2/15 - 1
5-1293662-G-A c.1339C>T p.Arg447Cys Missense 2/15 - 1
5-1293668-GGG-G c.1335_1336del p.Arg446Serfs*92 Frameshift 2/15 - 1
5-1293669-G-GG c.1336dup p.Arg446Profs*93 Frameshift 2/15 - 1
5-1293671-C-T c.1330G>A p.Asp444Asn Missense 2/15 - 1
5-1293683-C-A c.1318G>T p.Glu440* Nonsense 2/15 - 1
5-1293684-CCTC-C c.1323_1325del p.Glu441del InFrameDeletion 2/15 - 5
5-1293688-G-A c.1313C>T p.Pro438Leu Missense 2/15 - 1
5-1293695-C-A c.1306G>T p.Ala436Ser Missense 2/15 - 1
5-1293712-T-C c.1289A>G p.Lys430Arg Missense 2/15 - 1
5-1293718-CG-TA c.1282_1283delinsTA p.Arg428* Nonsense 2/15 - 1
5-1293721-G-C c.1280C>G p.Ala427Gly Missense 2/15 - 1
5-1293725-A-G c.1276T>C p.Cys426Arg Missense 2/15 - 1
5-1293733-G-A c.1268C>T p.Ala423Val Missense 2/15 - 1
5-1293733-GG-G c.1269del p.Gly424Valfs*85 Frameshift 2/15 - 1
5-1293737-C-T c.1264G>A p.Ala422Thr Missense 2/15 - 1
5-1293739-G-C c.1262C>G p.Pro421Arg Missense 2/15 - 1
5-1293740-G-A c.1261C>T p.Pro421Ser Missense 2/15 - 1
5-1293751-G-A c.1250C>T p.Ala417Val Missense 2/15 - 1
5-1293766-TG-AC c.1234_1235delinsGT p.His412Val Missense 2/15 - 1
5-1293767-G-A c.1234C>T p.His412Tyr Missense 2/15 - 31
5-1293767-G-T c.1234C>A p.His412Asn Missense 2/15 - 8
5-1293778-A-G c.1223T>C p.Leu408Pro Missense 2/15 - 1
5-1293783-CC-AC c.1218delinsT p.Gly406Gly Missense 2/15 - 1
5-1293790-G-A c.1211C>T p.Pro404Leu Missense 2/15 - 1
5-1293790-G-C c.1211C>G p.Pro404Arg Missense 2/15 - 1
5-1293797-G-A c.1204C>T p.Gln402* Nonsense 2/15 - 1
5-1293797-G-C c.1204C>G p.Gln402Glu Missense 2/15 - 1
5-1293797-G-T c.1204C>A p.Gln402Lys Missense 2/15 - 1
5-1293798-CG-AC c.1202_1203delinsGT p.Ala401Gly Missense 2/15 - 1
5-1293799-G-A c.1202C>T p.Ala401Val Missense 2/15 - 1
5-1293800-C-A c.1201G>T p.Ala401Ser Missense 2/15 - 1
5-1293808-C-T c.1193G>A p.Gly398Glu Missense 2/15 - 1
5-1293812-G-A c.1189C>T p.Leu397Phe Missense 2/15 - 1
5-1293812-G-C c.1189C>G p.Leu397Val Missense 2/15 - 1
5-1293818-C-T c.1183G>A p.Glu395Lys Missense 2/15 - 1
5-1293843-AG-A c.1158del p.Trp387Glyfs*122 Frameshift 2/15 - 1
5-1293850-T-C c.1151A>G p.Gln384Arg Missense 2/15 - 1
5-1293858-GCG-GAG c.1142delinsT p.Arg381Leu Missense 2/15 - 1
5-1293858-GCG-TGG c.1142_1143delinsCA p.Arg381Pro Missense 2/15 - 1
5-1293859-C-G c.1142G>C p.Arg381Pro Missense 2/15 - 1
5-1293859-C-T c.1142G>A p.Arg381His Missense 2/15 - 2
5-1293860-G-A c.1141C>T p.Arg381Cys Missense 2/15 - 1
5-1293860-G-C c.1141C>G p.Arg381Gly Missense 2/15 - 2
5-1293863-G-A c.1138C>T p.Pro380Ser Missense 2/15 - 4
5-1293863-G-T c.1138C>A p.Pro380Thr Missense 2/15 - 1
5-1293866-A-C c.1135T>G p.Leu379Val Missense 2/15 - 1
5-1293867-CCT-CAT c.1133delinsT p.Arg378Met Missense 2/15 - 1
5-1293875-G-C c.1126C>G p.Pro376Ala Missense 2/15 - 1
5-1293883-G-T c.1118C>A p.Pro373Gln Missense 2/15 - 1
5-1293893-G-A c.1108C>T p.Pro370Ser Missense 2/15 - 1
5-1293898-G-A c.1103C>T p.Ser368Phe Missense 2/15 - 2
5-1293903-CAG-TTT c.1096_1098delinsAAA p.Leu366Lys Missense 2/15 - 1
5-1293917-C-T c.1084G>A p.Glu362Lys Missense 2/15 - 1
5-1293923-G-C c.1078C>G p.Leu360Val Missense 2/15 - 1
5-1293927-CCG-TGT c.1072_1074delinsACA p.Arg358Thr Missense 2/15 - 1
5-1293931-G-A c.1070C>T p.Ala357Val Missense 2/15 - 1
5-1293931-G-C c.1070C>G p.Ala357Gly Missense 2/15 - 1
5-1293948-GCC-G c.1052_1053del p.Arg351Thrfs*187 Frameshift 2/15 - 1
5-1293949-CT-CA c.1051delinsT p.Arg351Trp Missense 2/15 - 1
5-1293950-T-A c.1051A>T p.Arg351Trp Missense 2/15 - 1
5-1293951-TC-T c.1050del p.Arg351Glyfs*4 Frameshift 2/15 - 1
5-1293958-C-G c.1043G>C p.Ser348Thr Missense 2/15 - 1
5-1293959-T-TA c.1041_1042insT p.Ser348* Nonsense 2/15 - 1
5-1293970-GA-CT c.1030_1031delinsAG p.Ser344Ser Missense 2/15 - 1
5-1293980-G-C c.1021C>G p.Leu341Val Missense 2/15 - 1
5-1293986-C-G c.1015G>C p.Glu339Gln Missense 2/15 - 1
5-1293990-G-C c.1011C>G p.Asp337Glu Missense 2/15 - 1
5-1293990-G-T c.1011C>A p.Asp337Glu Missense 2/15 - 1
5-1294000-GGAG-G c.1002_1004del p.Ser335del InFrameDeletion 2/15 - 2
5-1294005-GAG-ATG c.995_996delinsAT p.Leu332His Missense 2/15 - 1
5-1294006-A-C c.995T>G p.Leu332Arg Missense 2/15 - 1
5-1294007-G-A c.994C>T p.Leu332Phe Missense 2/15 - 1
5-1294013-G-A c.988C>T p.His330Tyr Missense 2/15 - 1
5-1294020-C-A c.981G>T p.Glu327Asp Missense 2/15 - 1
5-1294020-C-G c.981G>C p.Glu327Asp Missense 2/15 - 1
5-1294029-CAC-ATC c.971_972delinsAT p.Val324Asp Missense 2/15 - 1
5-1294030-A-G c.971T>C p.Val324Ala Missense 2/15 - 1
5-1294033-G-A c.968C>T p.Pro323Leu Missense 2/15 - 1
5-1294033-G-C c.968C>G p.Pro323Arg Missense 2/15 - 1
5-1294037-G-C c.964C>G p.Pro322Ala Missense 2/15 - 1
5-1294042-G-A c.959C>T p.Pro320Leu Missense 2/15 - 1
5-1294060-G-A c.941C>T p.Pro314Leu Missense 2/15 - 1
5-1294061-G-C c.940C>G p.Pro314Ala Missense 2/15 - 1
5-1294065-CC-AT c.935_936delinsAT p.Arg312His Missense 2/15 - 3
5-1294073-T-A c.928A>T p.Thr310Ser Missense 2/15 - 1
5-1294077-TG-AT c.923_924delinsAT p.Pro308His Missense 2/15 - 1
5-1294086-C-A c.915G>T p.Ala305Ala Synonymous 2/15 - 17
5-1294086-C-G c.915G>C p.Ala305Ala Synonymous 2/15 - 17
5-1294086-C-T c.915G>A p.Ala305Ala Synonymous 2/15 - 166
5-1294097-G-A c.904C>T p.Gln302* Nonsense 2/15 - 1
5-1294098-GCG-AAG c.902_903delinsTT p.Arg301Leu Missense 2/15 - 1
5-1294100-G-A c.901C>T p.Arg301Cys Missense 2/15 - 1
5-1294103-C-G c.898G>C p.Gly300Arg Missense 2/15 - 1
5-1294105-A-G c.896T>C p.Val299Ala Missense 2/15 - 1
5-1294106-C-T c.895G>A p.Val299Met Missense 2/15 - 4
5-1294110-TG-AT c.890_891delinsAT p.Pro297His Missense 2/15 - 1
5-1294111-G-A c.890C>T p.Pro297Leu Missense 2/15 - 1
5-1294111-TGGG-T c.888_890del p.His296_Pro297delinsGln MultiAAMissense 2/15 - 1
5-1294114-T-G c.887A>C p.His296Pro Missense 2/15 - 1
5-1294117-GA-AA c.884delinsT p.Ser295Phe Missense 2/15 - 1
5-1294122-GCG-TGG c.878_879delinsCA p.Arg293Pro Missense 2/15 - 1
5-1294124-G-A c.877C>T p.Arg293Cys Missense 2/15 - 1
5-1294124-G-T c.877C>A p.Arg293Ser Missense 2/15 - 1
5-1294126-G-T c.875C>A p.Thr292Lys Missense 2/15 - 1
5-1294129-C-T c.872G>A p.Gly291Asp Missense 2/15 - 1
5-1294136-G-C c.865C>G p.Leu289Val Missense 2/15 - 1
5-1294140-AC-AG c.860delinsC p.Gly287Ala Missense 2/15 - 1
5-1294141-C-A c.860G>T p.Gly287Val Missense 2/15 - 1
5-1294144-T-G c.857A>C p.Glu286Ala Missense 2/15 - 1
5-1294147-AA-AG c.853delinsC p.Leu285Leu Missense 2/15 - 1
5-1294150-G-C c.851C>G p.Ser284Cys Missense 2/15 - 1
5-1294156-G-C c.845C>G p.Ala282Gly Missense 2/15 - 1
5-1294161-T-A c.840A>T p.Glu280Asp Missense 2/15 - 1
5-1294161-T-G c.840A>C p.Glu280Asp Missense 2/15 - 1
5-1294163-C-T c.838G>A p.Glu280Lys Missense 2/15 - 4
5-1294165-G-T c.836C>A p.Ala279Asp Missense 2/15 - 1
5-1294166-C-T c.835G>A p.Ala279Thr Missense 2/15 - 29
5-1294168-G-A c.833C>T p.Pro278Leu Missense 2/15 - 1
5-1294170-TCT-TGT c.830delinsC p.Arg277Thr Missense 2/15 - 1
5-1294171-C-G c.830G>C p.Arg277Thr Missense 2/15 - 1
5-1294171-C-T c.830G>A p.Arg277Lys Missense 2/15 - 1
5-1294171-CT-CA c.829delinsT p.Arg277* Missense 2/15 - 1
5-1294183-A-C c.818T>G p.Val273Gly Missense 2/15 - 1
5-1294185-CAC-ATC c.815_816delinsAT p.Val272Asp Missense 2/15 - 1
5-1294187-C-T c.814G>A p.Val272Met Missense 2/15 - 2
5-1294189-C-G c.812G>C p.Cys271Ser Missense 2/15 - 1
5-1294190-A-T c.811T>A p.Cys271Ser Missense 2/15 - 1
5-1294196-C-G c.805G>C p.Gly269Arg Missense 2/15 - 1
5-1294198-CG-AC c.802_803delinsGT p.Arg268Val Missense 2/15 - 1
5-1294199-G-A c.802C>T p.Arg268Cys Missense 2/15 - 1
5-1294200-GG-G c.802del p.Arg268Valfs*83 Frameshift 2/15 - 1
5-1294207-G-A c.794C>T p.Pro265Leu Missense 2/15 - 1
5-1294207-G-C c.794C>G p.Pro265Arg Missense 2/15 - 1
5-1294212-AC-AA c.788delinsT p.Arg263Leu Missense 2/15 - 1
5-1294218-CCT-TGT c.782_783delinsCA p.Arg261Thr Missense 2/15 - 1
5-1294222-C-T c.779G>A p.Gly260Asp Missense 2/15 - 3
5-1294232-C-T c.769G>A p.Ala257Thr Missense 2/15 - 1
5-1294236-GG-AA c.764_765delinsTT p.Ser255Phe Nonsense 2/15 - 1
5-1294238-A-C c.763T>G p.Ser255Ala Missense 2/15 - 1
5-1294238-A-G c.763T>C p.Ser255Pro Missense 2/15 - 1
5-1294238-A-T c.763T>A p.Ser255Thr Missense 2/15 - 1
5-1294241-C-G c.760G>C p.Gly254Arg Missense 2/15 - 1
5-1294241-C-T c.760G>A p.Gly254Arg Missense 2/15 - 1
5-1294242-C-A c.759G>T p.Gln253His Missense 2/15 - 1
5-1294242-C-G c.759G>C p.Gln253His Missense 2/15 - 1
5-1294252-G-A c.749C>T p.Pro250Leu Missense 2/15 - 1
5-1294252-G-C c.749C>G p.Pro250Arg Missense 2/15 - 1
5-1294254-C-A c.747G>T p.Thr249Thr Synonymous 2/15 - 1
5-1294255-GT-GA c.745delinsT p.Thr249Ser Missense 2/15 - 1
5-1294256-T-C c.745A>G p.Thr249Ala Missense 2/15 - 1
5-1294257-CCG-TGT c.742_744delinsACA p.Arg248Thr Missense 2/15 - 1
5-1294259-G-A c.742C>T p.Arg248Trp Missense 2/15 - 3
5-1294270-G-T c.731C>A p.Pro244His Missense 2/15 - 1
5-1294271-G-A c.730C>T p.Pro244Ser Missense 2/15 - 1
5-1294271-GGGG-G c.729_731del p.Pro244del InFrameDeletion 2/15 - 1
5-1294273-G-A c.728C>T p.Ala243Val Missense 2/15 - 1
5-1294274-C-A c.727G>T p.Ala243Ser Missense 2/15 - 1
5-1294274-C-T c.727G>A p.Ala243Thr Missense 2/15 - 1
5-1294276-G-A c.725C>T p.Ala242Val Missense 2/15 - 1
5-1294281-ACG-AAG c.719delinsT p.Arg240Leu Missense 2/15 - 1
5-1294281-ACG-TGG c.719_720delinsCA p.Arg240Pro Missense 2/15 - 1
5-1294284-CCT-TGT c.716_717delinsCA p.Arg239Thr Missense 2/15 - 1
5-1294285-C-G c.716G>C p.Arg239Thr Missense 2/15 - 1
5-1294286-T-A c.715A>T p.Arg239Trp Missense 2/15 - 1
5-1294290-CCT-TGT c.710_711delinsCA p.Arg237Thr Missense 2/15 - 1
5-1294298-G-A c.703C>T p.Pro235Ser Missense 2/15 - 1
5-1294301-A-C c.700T>G p.Leu234Val Missense 2/15 - 1
5-1294305-CAG-TTT c.694_696delinsAAA p.Leu232Lys Missense 2/15 - 1
5-1294313-G-A c.688C>T p.Arg230* Nonsense 2/15 - 1
5-1294315-C-G c.686G>C p.Ser229Thr Missense 2/15 - 2
5-1294321-CT-GC c.679_680delinsGC p.Ser227Ala Missense 2/15 - 1
5-1294326-CCCC-C c.675_677del p.Gly226del InFrameDeletion 2/15 - 1
5-1294327-C-T c.674G>A p.Gly225Glu Missense 2/15 - 1
5-1294329-GCG-TGA c.670_672delinsTCA p.Arg224Ser Nonsense 2/15 - 1
5-1294336-CCTC-C c.667_669del p.Arg224del InFrameDeletion 2/15 - 1
5-1294338-C-A c.663G>T p.Ala221Ala Synonymous 2/15 - 1
5-1294338-C-T c.663G>A p.Ala221Ala Synonymous 2/15 - 1
5-1294340-C-A c.661G>T p.Ala221Ser Missense 2/15 - 1
5-1294340-C-T c.661G>A p.Ala221Thr Missense 2/15 - 1
5-1294346-G-A c.655C>T p.Pro219Ser Missense 2/15 - 1
5-1294348-GC-TT c.652_653delinsAA p.Ala218Asn Missense 2/15 - 1
5-1294351-G-A c.650C>T p.Pro217Leu Missense 2/15 - 1
5-1294355-G-C c.646C>G p.Leu216Val Missense 2/15 - 1
5-1294355-G-T c.646C>A p.Leu216Met Missense 2/15 - 1
5-1294357-C-G c.644G>C p.Gly215Ala Missense 2/15 - 1
5-1294357-C-T c.644G>A p.Gly215Asp Missense 2/15 - 1
5-1294361-G-C c.640C>G p.Leu214Val Missense 2/15 - 1
5-1294369-C-G c.632G>C p.Gly211Ala Missense 2/15 - 1
5-1294381-AC-TT c.619_620delinsAA p.Val207Asn Missense 2/15 - 1
5-1294381-A-T c.620T>A p.Val207Asp Missense 2/15 - 1
5-1294382-C-T c.619G>A p.Val207Ile Missense 2/15 - 2
5-1294384-CT-TT c.617delinsA p.Ser206Asn Missense 2/15 - 1
5-1294391-T-C c.610A>G p.Asn204Asp Missense 2/15 - 1
5-1294393-C-G c.608G>C p.Trp203Ser Missense 2/15 - 1
5-1294396-G-A c.605C>T p.Ala202Val Missense 2/15 - 1
5-1294397-C-A c.604G>T p.Ala202Ser Missense 2/15 - 1
5-1294397-C-T c.604G>A p.Ala202Thr Missense 2/15 - 10
5-1294414-C-G c.587G>C p.Arg196Pro Missense 2/15 - 1
5-1294418-T-A c.583A>T p.Arg195Trp Missense 2/15 - 1
5-1294420-CG-GC c.580_581delinsGC p.Arg194Ala Missense 2/15 - 1
5-1294421-G-A c.580C>T p.Arg194* Nonsense 2/15 - 1
5-1294423-G-A c.578C>T p.Pro193Leu Missense 2/15 - 1
5-1294424-G-A c.577C>T p.Pro193Ser Missense 2/15 - 1
5-1294427-C-G c.574G>C p.Gly192Arg Missense 2/15 - 1
5-1294427-C-T c.574G>A p.Gly192Arg Missense 2/15 - 1
5-1294429-C-G c.572G>C p.Ser191Thr Missense 2/15 - 2
5-1294432-G-A c.569C>T p.Ala190Val Missense 2/15 - 2
5-1294433-C-T c.568G>A p.Ala190Thr Missense 2/15 - 1
5-1294435-TG-GC c.565_566delinsGC p.His189Ala Missense 2/15 - 1
5-1294438-G-T c.563C>A p.Pro188Gln Missense 2/15 - 1
5-1294447-CG-GC c.553_554delinsGC p.Arg185Ala Missense 2/15 - 1
5-1294447-C-T c.554G>A p.Arg185Gln Missense 2/15 - 1
5-1294448-G-A c.553C>T p.Arg185Trp Missense 2/15 - 1
5-1294455-AG-TG c.546delinsA p.Thr182Thr Missense 2/15 - 1
5-1294457-T-A c.544A>T p.Thr182Ser Missense 2/15 - 2
5-1294457-T-C c.544A>G p.Thr182Ala Missense 2/15 - 1
5-1294459-G-T c.542C>A p.Ala181Asp Missense 2/15 - 1
5-1294465-C-A c.536G>T p.Gly179Val Missense 2/15 - 1
5-1294465-GCCG-G c.536_538del p.Gly179del InFrameDeletion 2/15 - 1
5-1294468-A-G c.533T>C p.Leu178Pro Missense 2/15 - 1
5-1294469-G-C c.532C>G p.Leu178Val Missense 2/15 - 1
5-1294472-G-A c.529C>T p.Gln177* Nonsense 2/15 - 1
5-1294474-TA-GC c.526_527delinsGC p.Tyr176Ala Missense 2/15 - 1
5-1294478-G-C c.523C>G p.Leu175Val Missense 2/15 - 1
5-1294480-G-C c.521C>G p.Pro174Arg Missense 2/15 - 1
5-1294491-CAC-ATC c.509_510delinsAT p.Val170Asp Missense 2/15 - 1
5-1294493-C-A c.508G>T p.Val170Leu Missense 2/15 - 2
5-1294493-C-G c.508G>C p.Val170Leu Missense 2/15 - 2
5-1294493-C-T c.508G>A p.Val170Met Missense 2/15 - 5
5-1294495-TG-GC c.505_506delinsGC p.Gln169Ala Missense 2/15 - 4
5-1294496-G-T c.505C>A p.Gln169Lys Missense 2/15 - 1
5-1294501-G-C c.500C>G p.Ala167Gly Missense 2/15 - 1
5-1294507-GCT-G c.493_494del p.Ser165Leufs*26 Frameshift 2/15 - 1
5-1294508-T-C c.493A>G p.Ser165Gly Missense 2/15 - 1
5-1294514-C-G c.487G>C p.Ala163Pro Missense 2/15 - 2
5-1294514-C-T c.487G>A p.Ala163Thr Missense 2/15 - 1
5-1294518-C-A c.483G>T p.Leu161Leu Synonymous 2/15 - 1
5-1294518-C-G c.483G>C p.Leu161Leu Synonymous 2/15 - 1
5-1294518-C-T c.483G>A p.Leu161Leu Synonymous 2/15 - 1
5-1294520-G-A c.481C>T p.Leu161Leu Synonymous 2/15 - 1
5-1294523-C-A c.478G>T p.Val160Leu Missense 2/15 - 1
5-1294523-C-G c.478G>C p.Val160Leu Missense 2/15 - 1
5-1294525-AAA-A c.476_477del p.Phe159Cysfs*32 Frameshift 2/15 - 1
5-1294531-G-A c.470C>T p.Ala157Val Missense 2/15 - 1
5-1294537-CG-GC c.463_464delinsGC p.Arg155Ala Missense 2/15 - 1
5-1294538-G-A c.463C>T p.Arg155Cys Missense 2/15 - 1
5-1294540-G-A c.461C>T p.Ala154Val Missense 2/15 - 1
5-1294544-G-T c.457C>A p.Leu153Met Missense 2/15 - 3
5-1294548-GG-G c.454del p.Leu152Cysfs*199 Frameshift 2/15 - 1
5-1294553-C-T c.448G>A p.Val150Ile Missense 2/15 - 1
5-1294556-G-C c.445C>G p.Leu149Val Missense 2/15 - 1
5-1294557-CAC-ATC c.443_444delinsAT p.Val148Asp Missense 2/15 - 1
5-1294558-A-T c.443T>A p.Val148Glu Missense 2/15 - 1
5-1294562-C-G c.439G>C p.Asp147His Missense 2/15 - 1
5-1294563-CG-C c.438del p.Asp146Glufs*205 Frameshift 2/15 - 1
5-1294563-G-T c.438C>A p.Asp146Glu Missense 2/15 - 1
5-1294564-T-G c.437A>C p.Asp146Ala Missense 2/15 - 1
5-1294566-GC-AG c.434_435delinsCT p.Gly145Ala Missense 2/15 - 1
5-1294568-C-G c.433G>C p.Gly145Arg Missense 2/15 - 2
5-1294571-C-A c.430G>T p.Val144Leu Missense 2/15 - 1
5-1294571-C-G c.430G>C p.Val144Leu Missense 2/15 - 1
5-1294571-C-T c.430G>A p.Val144Met Missense 2/15 - 12
5-1294572-GCG-GAG c.428delinsT p.Arg143Leu Missense 2/15 - 1
5-1294575-GCG-GAG c.425delinsT p.Arg142Leu Missense 2/15 - 1
5-1294575-GCG-TGG c.425_426delinsCA p.Arg142Pro Missense 2/15 - 1
5-1294579-AG-GC c.421_422delinsGC p.Leu141Ala Missense 2/15 - 2
5-1294581-CAG-TTT c.418_420delinsAAA p.Leu140Lys Missense 2/15 - 1
5-1294585-A-C c.416T>G p.Leu139Arg Missense 2/15 - 4
5-1294586-G-C c.415C>G p.Leu139Val Missense 2/15 - 1
5-1294586-G-T c.415C>A p.Leu139Met Missense 2/15 - 1
5-1294597-C-G c.404G>C p.Gly135Ala Missense 2/15 - 1
5-1294597-C-T c.404G>A p.Gly135Glu Missense 2/15 - 1
5-1294598-C-G c.403G>C p.Gly135Arg Missense 2/15 - 1
5-1294598-C-T c.403G>A p.Gly135Arg Missense 2/15 - 1
5-1294600-CT-GC c.400_401delinsGC p.Ser134Ala Missense 2/15 - 1
5-1294602-CC-AC c.399delinsT p.Gly133Gly Missense 2/15 - 1
5-1294604-C-G c.397G>C p.Gly133Arg Missense 2/15 - 1
5-1294604-C-T c.397G>A p.Gly133Arg Missense 2/15 - 1
5-1294605-CC-AT c.395_396delinsAT p.Arg132His Missense 2/15 - 19
5-1294605-CCG-AGC c.394_396delinsGCT p.Arg132Ala Missense 2/15 - 1
5-1294605-CCG-GAC c.394_396delinsGTC p.Arg132Val Missense 2/15 - 4
5-1294605-CCG-TGT c.394_396delinsACA p.Arg132Thr Missense 2/15 - 3
5-1294606-CG-GA c.394_395delinsTC p.Arg132Ser Missense 2/15 - 2
5-1294606-C-T c.395G>A p.Arg132Gln Missense 2/15 - 1
5-1294607-G-A c.394C>T p.Arg132Trp Missense 2/15 - 1
5-1294612-G-A c.389C>T p.Ala130Val Missense 2/15 - 3
5-1294612-G-C c.389C>G p.Ala130Gly Missense 2/15 - 1
5-1294613-C-A c.388G>T p.Ala130Ser Missense 2/15 - 1
5-1294614-CG-C c.387del p.Asp129Glufs*222 Frameshift 2/15 - 1
5-1294615-T-G c.386A>C p.Asp129Ala Missense 2/15 - 2
5-1294616-C-G c.385G>C p.Asp129His Missense 2/15 - 1
5-1294619-T-C c.382A>G p.Thr128Ala Missense 2/15 - 1
5-1294620-CAC-TTT c.379_381delinsAAA p.Val127Lys Missense 2/15 - 1
5-1294624-G-T c.377C>A p.Thr126Lys Missense 2/15 - 2
5-1294627-GTTG-G c.374_376del p.Asn125del InFrameDeletion 2/15 - 1
5-1294627-TT-GC c.373_374delinsGC p.Asn125Ala Missense 2/15 - 2
5-1294638-GCT-TGA c.361_363delinsTCA p.Ser121Ser Nonsense 2/15 - 1
5-1294639-C-G c.362G>C p.Ser121Thr Missense 2/15 - 1
5-1294639-CT-GC c.361_362delinsGC p.Ser121Ala Missense 2/15 - 1
5-1294640-T-C c.361A>G p.Ser121Gly Missense 2/15 - 1
5-1294641-GCG-GAG c.359delinsT p.Arg120Leu Missense 2/15 - 1
5-1294642-C-T c.359G>A p.Arg120His Missense 2/15 - 1
5-1294646-C-A c.355G>T p.Val119Leu Missense 2/15 - 1
5-1294646-C-G c.355G>C p.Val119Leu Missense 2/15 - 1
5-1294646-C-T c.355G>A p.Val119Met Missense 2/15 - 1
5-1294647-G-C c.354C>G p.Ser118Arg Missense 2/15 - 1
5-1294647-G-T c.354C>A p.Ser118Arg Missense 2/15 - 1
5-1294649-T-G c.352A>C p.Ser118Arg Missense 2/15 - 1
5-1294648-CT-GC c.352_353delinsGC p.Ser118Ala Missense 2/15 - 2
5-1294650-GG-TG c.351delinsA p.Thr117Thr Missense 2/15 - 1
5-1294652-T-C c.349A>G p.Thr117Ala Missense 2/15 - 1
5-1294654-G-A c.347C>T p.Thr116Ile Missense 2/15 - 1
5-1294654-G-C c.347C>G p.Thr116Ser Missense 2/15 - 2
5-1294655-T-C c.346A>G p.Thr116Ala Missense 2/15 - 2
5-1294661-C-T c.340G>A p.Ala114Thr Missense 2/15 - 1
5-1294663-TC-AG c.337_338delinsCT p.Glu113Leu Missense 2/15 - 1
5-1294663-T-G c.338A>C p.Glu113Ala Missense 2/15 - 1
5-1294667-G-C c.334C>G p.Pro112Ala Missense 2/15 - 1
5-1294671-G-GG c.336dup p.Glu113Argfs*79 Frameshift 2/15 - 2
5-1294671-GG-G c.336del p.Glu113Argfs*15 Frameshift 2/15 - 2
5-1294672-C-G c.329G>C p.Gly110Ala Missense 2/15 - 2
5-1294678-C-G c.323G>C p.Arg108Pro Missense 2/15 - 1
5-1294679-G-A c.322C>T p.Arg108Cys Missense 2/15 - 1
5-1294681-G-A c.320C>T p.Ala107Val Missense 2/15 - 1
5-1294682-C-A c.319G>T p.Ala107Ser Missense 2/15 - 1
5-1294682-C-T c.319G>A p.Ala107Thr Missense 2/15 - 2
5-1294684-C-G c.317G>C p.Gly106Ala Missense 2/15 - 1
5-1294687-T-G c.314A>C p.Asp105Ala Missense 2/15 - 2
5-1294689-CAG-TTT c.310_312delinsAAA p.Leu104Lys Missense 2/15 - 1
5-1294694-G-C c.307C>G p.Leu103Val Missense 2/15 - 1
5-1294702-C-A c.299G>T p.Gly100Val Missense 2/15 - 9
5-1294705-AA-GC c.295_296delinsGC p.Phe99Ala Missense 2/15 - 2
5-1294707-G-A c.294C>T p.Ala98Ala Synonymous 2/15 - 1
5-1294707-G-C c.294C>G p.Ala98Ala Synonymous 2/15 - 1
5-1294707-GG-AG c.294delinsT p.Ala98Ala Missense 2/15 - 1
5-1294707-G-T c.294C>A p.Ala98Ala Synonymous 2/15 - 1
5-1294708-G-A c.293C>T p.Ala98Val Missense 2/15 - 1
5-1294708-G-C c.293C>G p.Ala98Gly Missense 2/15 - 1
5-1294708-G-T c.293C>A p.Ala98Asp Missense 2/15 - 3
5-1294712-G-T c.289C>A p.Leu97Met Missense 2/15 - 1
5-1294715-C-A c.286G>T p.Val96Leu Missense 2/15 - 1
5-1294715-C-G c.286G>C p.Val96Leu Missense 2/15 - 1
5-1294717-TT-GC c.283_284delinsGC p.Asn95Ala Missense 2/15 - 4
5-1294718-T-C c.283A>G p.Asn95Asp Missense 2/15 - 3
5-1294722-CGC-TTT c.277_279delinsAAA p.Ala93Lys Missense 2/15 - 1
5-1294723-G-C c.278C>G p.Ala93Gly Missense 2/15 - 2
5-1294724-C-T c.277G>A p.Ala93Thr Missense 2/15 - 1
5-1294728-GC-AA c.272_273delinsTT p.Arg91Leu Missense 2/15 - 1
5-1294729-CG-GC c.271_272delinsGC p.Arg91Ala Missense 2/15 - 1
5-1294740-CCT-CAT c.260delinsT p.Arg87Met Missense 2/15 - 1
5-1294740-CCT-TGT c.260_261delinsCA p.Arg87Thr Missense 2/15 - 1
5-1294741-CT-CA c.259delinsT p.Arg87Trp Missense 2/15 - 1
5-1294741-CT-GA c.259_260delinsTC p.Arg87Ser Missense 2/15 - 1
5-1294743-C-A c.258G>T p.Gln86His Missense 2/15 - 1
5-1294743-C-G c.258G>C p.Gln86His Missense 2/15 - 1
5-1294745-G-A c.256C>T p.Gln86* Nonsense 2/15 - 1
5-1294746-CAG-TTT c.253_255delinsAAA p.Leu85Lys Missense 2/15 - 1
5-1294749-CAC-ATC c.251_252delinsAT p.Val84Asp Missense 2/15 - 1
5-1294750-A-T c.251T>A p.Val84Glu Missense 2/15 - 1
5-1294751-C-A c.250G>T p.Val84Leu Missense 2/15 - 1
5-1294751-C-G c.250G>C p.Val84Leu Missense 2/15 - 1
5-1294752-TCG-TGT c.247_248delinsAC p.Arg83Thr Missense 2/15 - 1
5-1294753-C-G c.248G>C p.Arg83Pro Missense 2/15 - 4
5-1294753-CG-AA c.247_248delinsTT p.Arg83Leu Missense 2/15 - 1
5-1294753-CG-GC c.247_248delinsGC p.Arg83Ala Missense 2/15 - 2
5-1294756-G-A c.245C>T p.Ala82Val Missense 2/15 - 1
5-1294759-A-G c.242T>C p.Val81Ala Missense 2/15 - 1
5-1294760-C-A c.241G>T p.Val81Leu Missense 2/15 - 1
5-1294760-C-G c.241G>C p.Val81Leu Missense 2/15 - 1
5-1294760-C-T c.241G>A p.Val81Met Missense 2/15 - 1
5-1294761-CAG-TTT c.238_240delinsAAA p.Leu80Lys Missense 2/15 - 1
5-1294765-T-C c.236A>G p.Glu79Gly Missense 2/15 - 1
5-1294769-T-C c.232A>G p.Lys78Glu Missense 2/15 - 6
5-1294771-A-G c.230T>C p.Leu77Pro Missense 2/15 - 2
5-1294771-AG-GC c.229_230delinsGC p.Leu77Ala Missense 2/15 - 1
5-1294772-G-A c.229C>T p.Leu77Leu Synonymous 2/15 - 1
5-1294773-G-A c.228C>T p.Cys76Cys Synonymous 2/15 - 3
5-1294777-GA-AA c.224delinsT p.Ser75Phe Missense 2/15 - 1
5-1294779-CAC-ATC c.221_222delinsAT p.Val74Asp Missense 2/15 - 1
5-1294781-C-A c.220G>T p.Val74Leu Missense 2/15 - 1
5-1294781-C-G c.220G>C p.Val74Leu Missense 2/15 - 1
5-1294885-C-T c.219+1G>A - IntronicSNV - 1/14 1
5-1294886-C-A c.219G>T p.Gln73His Missense 1/15 - 1
5-1294886-C-G c.219G>C p.Gln73His Missense 1/15 - 1
5-1294887-TG-GC c.217_218delinsGC p.Gln73Ala Missense 1/15 - 2
5-1294889-GCG-GAG c.215delinsT p.Arg72Leu Missense 1/15 - 2
5-1294890-C-G c.215G>C p.Arg72Pro Missense 1/15 - 5
5-1294890-CG-GC c.214_215delinsGC p.Arg72Ala Missense 1/15 - 3
5-1294896-GA-AA c.209delinsT p.Ser70Phe Missense 1/15 - 1
5-1294897-A-C c.208T>G p.Ser70Ala Missense 1/15 - 1
5-1294902-G-A c.203C>T p.Ala68Val Missense 1/15 - 1
5-1294903-C-T c.202G>A p.Ala68Thr Missense 1/15 - 1
5-1294904-G-A c.201C>T p.Ala67Ala Synonymous 1/15 - 1
5-1294904-G-C c.201C>G p.Ala67Ala Synonymous 1/15 - 1
5-1294904-G-T c.201C>A p.Ala67Ala Synonymous 1/15 - 1
5-1294905-G-A c.200C>T p.Ala67Val Missense 1/15 - 1
5-1294906-C-G c.199G>C p.Ala67Pro Missense 1/15 - 1
5-1294908-G-A c.197C>T p.Pro66Leu Missense 1/15 - 1
5-1294909-G-A c.196C>T p.Pro66Ser Missense 1/15 - 1
5-1294911-G-A c.194C>T p.Pro65Leu Missense 1/15 - 1
5-1294912-G-A c.193C>T p.Pro65Ser Missense 1/15 - 1
5-1294912-G-C c.193C>G p.Pro65Ala Missense 1/15 - 4
5-1294912-G-T c.193C>A p.Pro65Thr Missense 1/15 - 1
5-1294913-CG-AT c.191_192delinsAT p.Pro64His Missense 1/15 - 1
5-1294914-G-A c.191C>T p.Pro64Leu Missense 1/15 - 1
5-1294920-G-A c.185C>T p.Ala62Val Missense 1/15 - 1
5-1294923-T-A c.182A>T p.Asp61Val Missense 1/15 - 1
5-1294925-C-T c.180G>A p.Trp60* Nonsense 1/15 - 1
5-1294926-C-T c.179G>A p.Trp60* Nonsense 1/15 - 1
5-1294930-G-A c.175C>T p.Pro59Ser Missense 1/15 - 3
5-1294935-CA-CT c.169delinsA p.Cys57Ser Missense 1/15 - 2
5-1294935-C-T c.170G>A p.Cys57Tyr Missense 1/15 - 1
5-1294935-C-G c.170G>C p.Cys57Ser Missense 1/15 - 1
5-1294936-A-T c.169T>A p.Cys57Ser Missense 1/15 - 1
5-1294939-C-A c.166G>T p.Val56Leu Missense 1/15 - 2
5-1294939-C-G c.166G>C p.Val56Leu Missense 1/15 - 2
5-1294941-A-T c.164T>A p.Leu55Gln Missense 1/15 - 10
5-1294942-G-C c.163C>G p.Leu55Val Missense 1/15 - 1
5-1294943-G-GTACTGGG c.163_164insCAGTACC p.Leu55Profs*139 Frameshift 1/15 - 1
5-1294944-CA-GA c.161delinsC p.Cys54Ser Missense 1/15 - 1
5-1294944-C-T c.161G>A p.Cys54Tyr Missense 1/15 - 2
5-1294947-TG-GC c.157_158delinsGC p.Gln53Ala Missense 1/15 - 1
5-1294948-G-A c.157C>T p.Gln53* Nonsense 1/15 - 1
5-1294950-GC-TG c.154_155delinsCA p.Ala52His Missense 1/15 - 1
5-1294952-CC-C c.154del p.Ala52Profs*26 Frameshift 1/15 - 1
5-1294953-A-C c.152T>G p.Val51Gly Missense 1/15 - 1
5-1294956-AG-GG c.149delinsC p.Leu50Pro Missense 1/15 - 2
5-1294957-G-C c.148C>G p.Leu50Val Missense 1/15 - 1
5-1294958-CG-AC c.146_147delinsGT p.Ala49Gly Missense 1/15 - 1
5-1294959-G-A c.146C>T p.Ala49Val Missense 1/15 - 1
5-1294960-C-T c.145G>A p.Ala49Thr Missense 1/15 - 1
5-1294961-GCG-GAG c.143delinsT p.Arg48Leu Missense 1/15 - 1
5-1294962-CG-AC c.142_143delinsGT p.Arg48Val Missense 1/15 - 1
5-1294962-GCGG-G c.142_144del p.Arg48del InFrameDeletion 1/15 - 1
5-1294963-G-A c.142C>T p.Arg48Cys Missense 1/15 - 1
5-1294964-G-C c.141C>G p.Phe47Leu Missense 1/15 - 1
5-1294964-G-T c.141C>A p.Phe47Leu Missense 1/15 - 1
5-1294966-A-G c.139T>C p.Phe47Leu Missense 1/15 - 1
5-1294968-GC-TG c.136_137delinsCA p.Ala46His Missense 1/15 - 1
5-1294969-C-A c.136G>T p.Ala46Ser Missense 1/15 - 1
5-1294969-C-G c.136G>C p.Ala46Pro Missense 1/15 - 1
5-1294969-C-T c.136G>A p.Ala46Thr Missense 1/15 - 1
5-1294970-CG-AC c.134_135delinsGT p.Ala45Gly Missense 1/15 - 1
5-1294970-CGC-ATC c.134_135delinsAT p.Ala45Asp Missense 1/15 - 1
5-1294970-CGC-CAT c.133_134delinsAT p.Ala45Met Missense 1/15 - 1
5-1294970-CGC-TGT c.133_135delinsACA p.Ala45Thr Missense 1/15 - 1
5-1294970-CGC-TTT c.133_135delinsAAA p.Ala45Lys Missense 1/15 - 1
5-1294971-G-A c.134C>T p.Ala45Val Missense 1/15 - 1
5-1294971-G-C c.134C>G p.Ala45Gly Missense 1/15 - 1
5-1294971-GC-AA c.133_134delinsTT p.Ala45Leu Missense 1/15 - 1
5-1294971-G-T c.134C>A p.Ala45Glu Missense 1/15 - 1
5-1294979-CCC-TGT c.124_126delinsACA p.Gly42Thr Missense 1/15 - 1
5-1294981-CC-C c.127del p.Asp43Thrfs*35 Frameshift 1/15 - 1
5-1294981-C-G c.124G>C p.Gly42Arg Missense 1/15 - 1
5-1294981-C-T c.124G>A p.Gly42Arg Missense 1/15 - 1
5-1294982-GCG-AAG c.122_123delinsTT p.Arg41Leu Missense 1/15 - 1
5-1294982-GCG-TGG c.122_123delinsCA p.Arg41Pro Missense 1/15 - 1
5-1294983-C-T c.122G>A p.Arg41His Missense 1/15 - 1
5-1294984-G-T c.121C>A p.Arg41Ser Missense 1/15 - 2
5-1294991-C-A c.114G>T p.Leu38Leu Synonymous 1/15 - 1
5-1294991-C-G c.114G>C p.Leu38Leu Synonymous 1/15 - 1
5-1294991-C-T c.114G>A p.Leu38Leu Synonymous 1/15 - 1
5-1294993-G-A c.112C>T p.Leu38Leu Synonymous 1/15 - 2
5-1294993-G-C c.112C>G p.Leu38Val Missense 1/15 - 1
5-1294995-C-T c.110G>A p.Arg37Gln Missense 1/15 - 1
5-1294998-C-G c.107G>C p.Trp36Ser Missense 1/15 - 1
5-1295001-C-G c.104G>C p.Gly35Ala Missense 1/15 - 1
5-1295003-C-A c.102G>T p.Gln34His Missense 1/15 - 1
5-1295003-C-G c.102G>C p.Gln34His Missense 1/15 - 1
5-1295004-T-C c.101A>G p.Gln34Arg Missense 1/15 - 1
5-1295004-TG-GC c.100_101delinsGC p.Gln34Ala Missense 1/15 - 1
5-1295008-G-A c.97C>T p.Pro33Ser Missense 1/15 - 11
5-1295009-CC-AC c.96delinsT p.Gly32Gly Missense 1/15 - 1
5-1295016-CG-GC c.88_89delinsGC p.Arg30Ala Missense 1/15 - 1
5-1295019-CG-GC c.85_86delinsGC p.Arg29Ala Missense 1/15 - 1
5-1295018-C-A c.87G>T p.Arg29Arg Synonymous 1/15 - 1
5-1295018-C-G c.87G>C p.Arg29Arg Synonymous 1/15 - 1
5-1295018-C-T c.87G>A p.Arg29Arg Synonymous 1/15 - 1
5-1295020-G-T c.85C>A p.Arg29Arg Synonymous 1/15 - 1
5-1295021-GCAC-G c.82_84del p.Val28del InFrameDeletion 1/15 - 1
5-1295027-CG-AC c.77_78delinsGT p.Thr26Ser Missense 1/15 - 1
5-1295027-CG-TC c.77_78delinsGA p.Thr26Arg Missense 1/15 - 1
5-1295030-GGC-AAG c.73_75delinsCTT p.Ala25Leu Missense 1/15 - 1
5-1295030-GGC-ATG c.73_75delinsCAT p.Ala25His Missense 1/15 - 1
5-1295031-G-A c.74C>T p.Ala25Val Missense 1/15 - 2
5-1295031-G-C c.74C>G p.Ala25Gly Missense 1/15 - 1
5-1295031-GC-AA c.73_74delinsTT p.Ala25Phe Missense 1/15 - 1
5-1295031-GC-AT c.73_74delinsAT p.Ala25Ile Missense 1/15 - 1
5-1295031-GC-CG c.73_74delinsCG p.Ala25Arg Missense 1/15 - 1
5-1295031-GC-CT c.73_74delinsAG p.Ala25Ser Missense 1/15 - 1
5-1295032-C-G c.73G>C p.Ala25Pro Missense 1/15 - 1
5-1295032-C-T c.73G>A p.Ala25Thr Missense 1/15 - 2
5-1295033-CAG-ATC c.70_72delinsGAT p.Leu24Asp Missense 1/15 - 1
5-1295033-CAG-TTT c.70_72delinsAAA p.Leu24Lys Missense 1/15 - 1
5-1295035-G-C c.70C>G p.Leu24Val Missense 1/15 - 1
5-1295037-G-C c.68C>G p.Pro23Arg Missense 1/15 - 1
5-1295040-A-G c.65T>C p.Leu22Pro Missense 1/15 - 1
5-1295041-G-C c.64C>G p.Leu22Val Missense 1/15 - 1
5-1295042-CAC-ATC c.62_63delinsAT p.Val21Asp Missense 1/15 - 1
5-1295044-C-T c.61G>A p.Val21Met Missense 1/15 - 1
5-1295046-T-G c.59A>C p.Glu20Ala Missense 1/15 - 1
5-1295047-C-G c.58G>C p.Glu20Gln Missense 1/15 - 1
5-1295048-GCG-TGG c.56_57delinsCA p.Arg19Pro Missense 1/15 - 1
5-1295049-CG-GC c.55_56delinsGC p.Arg19Ala Missense 1/15 - 1
5-1295052-TA-GC c.52_53delinsGC p.Tyr18Ala Missense 1/15 - 1
5-1295055-TG-GC c.49_50delinsGC p.His17Ala Missense 1/15 - 1
5-1295057-GCT-GAG c.46_47delinsCT p.Ser16Leu Missense 1/15 - 1
5-1295058-C-G c.47G>C p.Ser16Thr Missense 1/15 - 1
5-1295058-CT-CC c.46delinsG p.Ser16Gly Missense 1/15 - 1
5-1295058-CT-GC c.46_47delinsGC p.Ser16Ala Missense 1/15 - 4
5-1295060-G-A c.45C>T p.Arg15Arg Synonymous 1/15 - 1
5-1295060-G-C c.45C>G p.Arg15Arg Synonymous 1/15 - 1
5-1295060-GC-AA c.44_45delinsTT p.Arg15Leu Missense 1/15 - 1
5-1295060-GCG-TGA c.43_45delinsTCA p.Arg15Ser Nonsense 1/15 - 1
5-1295060-GCG-TGG c.44_45delinsCA p.Arg15Pro Missense 1/15 - 1
5-1295060-G-T c.45C>A p.Arg15Arg Synonymous 1/15 - 1
5-1295061-CG-AC c.43_44delinsGT p.Arg15Val Missense 1/15 - 1
5-1295061-CG-GC c.43_44delinsGC p.Arg15Ala Missense 1/15 - 1
5-1295062-G-A c.43C>T p.Arg15Cys Missense 1/15 - 1
5-1295064-AG-GC c.40_41delinsGC p.Leu14Ala Missense 1/15 - 6
5-1295065-AG-A c.40del p.Leu14Cysfs*64 Frameshift 1/15 - 1
5-1295065-G-C c.40C>G p.Leu14Val Missense 1/15 - 1
5-1295066-CAG-TTT c.37_39delinsAAA p.Leu13Lys Missense 1/15 - 1
5-1295067-AG-GC c.37_38delinsGC p.Leu13Ala Missense 1/15 - 3
5-1295070-G-C c.35C>G p.Ser12Cys Missense 1/15 - 6
5-1295071-A-C c.34T>G p.Ser12Ala Missense 1/15 - 13
5-1295072-GCG-GAG c.32delinsT p.Arg11Leu Missense 1/15 - 1
5-1295072-GCG-TGA c.31_33delinsTCA p.Arg11Ser Nonsense 1/15 - 1
5-1295074-G-A c.31C>T p.Arg11Cys Missense 1/15 - 1
5-1295075-C-A c.30G>T p.Val10Val Synonymous 1/15 - 1
5-1295075-C-G c.30G>C p.Val10Val Synonymous 1/15 - 1
5-1295075-C-T c.30G>A p.Val10Val Synonymous 1/15 - 1
5-1295077-C-A c.28G>T p.Val10Leu Missense 1/15 - 1
5-1295077-C-G c.28G>C p.Val10Leu Missense 1/15 - 1
5-1295079-G-A c.26C>T p.Ala9Val Missense 1/15 - 1
5-1295079-G-C c.26C>G p.Ala9Gly Missense 1/15 - 1
5-1295081-TC-AT c.23_24delinsAT p.Arg8His Missense 1/15 - 1
5-1295084-G-T c.21C>A p.Cys7* Nonsense 1/15 - 1
5-1295085-C-G c.20G>C p.Cys7Ser Missense 1/15 - 1
5-1295086-A-T c.19T>A p.Cys7Ser Missense 1/15 - 1
5-1295088-C-T c.17G>A p.Arg6His Missense 1/15 - 1
5-1295090-GG-AA c.14_15delinsTT p.Pro5Leu Missense 1/15 - 1
5-1295091-G-C c.14C>G p.Pro5Arg Missense 1/15 - 1
5-1295095-C-T c.10G>A p.Ala4Thr Missense 1/15 - 1
5-1295099-C-A c.6G>T p.Pro2Pro Synonymous 1/15 - 1
5-1295099-C-G c.6G>C p.Pro2Pro Synonymous 1/15 - 1
5-1295099-C-T c.6G>A p.Pro2Pro Synonymous 1/15 - 1
5-1295143-G-C c.-39C>G - 5-UTRSNV 1/15 - 1
5-1295149-C-A c.-45G>T - 5-UTRSNV 1/15 - 1
5-1295158-G-T c.-54C>A - 5-UTRSNV 1/15 - 1
5-1295161-T-G c.-57A>C - 5-UTRSNV 1/15 - 3