+1kb

53286860(c.-983T>C), 53288065(c.-2188T>C),

5'UTR

CDS

53110365(c.2690C>T), 53110613(c.2442G>C), 53110724(c.2331T>C), 53110916(c.2139T>C), 53111309(c.1746C>A), 53111330(c.1725C>T), 53111366(c.1689G>A), 53111372(c.1683C>T), 53111441(c.1614C>T), 53111555(c.1500C>A), 53113093(c.1341G>T), 53117204(c.1114G>A), 53117358(c.960T>C), 53118710(c.918G>C), 53118881(c.747G>C), 53130943(c.468G>A), 53131763(c.450A>G), 53131769(c.444G>A), 53131916(c.297T>C), 53131937(c.276T>C), 53131991(c.222T>C), 53146689(c.120A>C),

3'UTR

53109535(c.*685T>C), 53109649(c.*571A>G), 53109662(c.*558T>C), 53110069(c.*151T>A),

INTRON

53111738(c.1387-70C>T), 53111759(c.1387-91A>G), 53111760(c.1387-92A>G), 53111769(c.1387-101T>C), 53111956(c.1387-288G>A), 53111988(c.1387-320G>A), 53112828(c.1386+220A>G), 53112945(c.1386+103G>A), 53112949(c.1386+99G>A), 53114481(c.1184-1231A>C), 53114802(c.1184-1552G>A), 53114864(c.1184-1614G>A), 53114981(c.1184-1731T>G), 53115002(c.1184-1752A>T), 53115012(c.1184-1762C>T), 53115031(c.1184-1781T>C), 53115135(c.1184-1885A>T), 53115156(c.1184-1906T>A), 53115273(c.1183+1862A>G), 53115356(c.1183+1779A>G), 53115359(c.1183+1776A>G), 53115412(c.1183+1723A>G), 53115502(c.1183+1633G>A), 53115508(c.1183+1627C>T), 53115543(c.1183+1592T>G), 53115564(c.1183+1571G>A), 53115584(c.1183+1551T>C), 53115626(c.1183+1509C>T), 53115696(c.1183+1439G>T), 53115801(c.1183+1334A>G), 53115804(c.1183+1331G>C), 53115812(c.1183+1323G>T), 53115867(c.1183+1268C>T), 53116016(c.1183+1119A>G), 53116022(c.1183+1113T>C), 53116026(c.1183+1109C>T), 53116063(c.1183+1072T>C), 53116065(c.1183+1070G>T), 53116190(c.1183+945T>C), 53116197(c.1183+938G>A), 53116206(c.1183+929G>A), 53116209(c.1183+926A>G), 53116236(c.1183+899C>A), 53116279(c.1183+856A>G), 53116292(c.1183+843A>G), 53116317(c.1183+818G>A), 53116369(c.1183+766C>T), 53116370(c.1183+765C>A), 53116390(c.1183+745G>A), 53116413(c.1183+722T>C), 53116489(c.1183+646G>T), 53116543(c.1183+592T>G), 53116611(c.1183+524C>T), 53116621(c.1183+514T>C), 53116651(c.1183+484T>G), 53116659(c.1183+476G>A), 53116683(c.1183+452C>T), 53116962(c.1183+173T>G), 53116963(c.1183+172G>A), 53116993(c.1183+142T>C), 53117106(c.1183+29T>C), 53117395(c.938-15T>C), 53117401(c.938-21A>C), 53117422(c.938-42C>T), 53117566(c.938-186A>G), 53117715(c.938-335A>G), 53117717(c.938-337A>G), 53117719(c.938-339T>C), 53117720(c.938-340T>A), 53117856(c.938-476G>A), 53117872(c.938-492G>A), 53117997(c.938-617T>C), 53118033(c.938-653G>A), 53118121(c.937+570G>A), 53118126(c.937+565C>T), 53118143(c.937+548C>T), 53118165(c.937+526T>C), 53118166(c.937+525A>C), 53118295(c.937+396C>T), 53118300(c.937+391A>T), 53118355(c.937+336G>A), 53118463(c.937+228A>G), 53118558(c.937+133C>T), 53118592(c.937+99T>C), 53118632(c.937+59C>T), 53119015(c.623-10T>C), 53119017(c.623-12C>T), 53119023(c.623-18G>A), 53119031(c.623-26C>T), 53119352(c.623-347G>A), 53119493(c.623-488G>A), 53119626(c.623-621G>A), 53119805(c.623-800G>T), 53120178(c.623-1173T>C), 53120196(c.623-1191A>T), 53120411(c.622+1253G>A), 53120556(c.622+1108C>T), 53120789(c.622+875A>C), 53121101(c.622+563G>A), 53121264(c.622+400G>T), 53121920(c.495-129G>A), 53122030(c.495-239C>T), 53122108(c.495-317C>T), 53122217(c.495-426T>C), 53122228(c.495-437G>A), 53122844(c.495-1053C>T), 53122845(c.495-1054C>G), 53123145(c.495-1354C>T), 53123886(c.495-2095A>G), 53123922(c.495-2131A>G), 53123991(c.495-2200T>C), 53124051(c.495-2260T>C), 53124420(c.495-2629G>A), 53124616(c.495-2825C>T), 53124779(c.495-2988A>T), 53124938(c.495-3147A>G), 53124954(c.495-3163A>G), 53125066(c.495-3275C>T), 53125218(c.495-3427A>G), 53125245(c.495-3454A>G), 53125258(c.495-3467T>C), 53125266(c.495-3475T>C), 53125271(c.495-3480C>T), 53125362(c.495-3571T>C), 53125363(c.495-3572G>A), 53125448(c.495-3657C>G), 53125462(c.495-3671T>C), 53125542(c.495-3751G>A), 53125555(c.495-3764C>T), 53125580(c.495-3789C>T), 53125651(c.495-3860G>A), 53125657(c.495-3866C>T), 53125690(c.495-3899C>T), 53125725(c.495-3934A>G), 53125735(c.495-3944T>C), 53125754(c.495-3963C>A), 53125776(c.495-3985T>A), 53125821(c.495-4030T>C), 53126066(c.495-4275C>T), 53126067(c.495-4276C>T), 53126068(c.495-4277G>T), 53126105(c.495-4314C>T), 53126245(c.495-4454T>A), 53126249(c.495-4458T>C), 53126315(c.495-4524A>C), 53126488(c.494+4429A>T), 53126777(c.494+4140T>G), 53126814(c.494+4103C>G), 53126829(c.494+4088T>C), 53126842(c.494+4075A>G), 53126867(c.494+4050C>A), 53126936(c.494+3981C>T), 53127112(c.494+3805T>C), 53127119(c.494+3798C>A), 53127124(c.494+3793C>T), 53127129(c.494+3788G>A), 53127174(c.494+3743A>G), 53127217(c.494+3700G>A), 53127264(c.494+3653G>T), 53127487(c.494+3430G>A), 53127622(c.494+3295T>C), 53127664(c.494+3253G>A), 53127762(c.494+3155T>C), 53127929(c.494+2988A>C), 53127930(c.494+2987T>A), 53128059(c.494+2858T>C), 53128081(c.494+2836T>C), 53128087(c.494+2830T>C), 53128125(c.494+2792C>T), 53128145(c.494+2772G>A), 53128184(c.494+2733G>A), 53128208(c.494+2709C>G), 53128311(c.494+2606A>G), 53128313(c.494+2604G>T), 53128329(c.494+2588T>C), 53128335(c.494+2582G>A), 53128467(c.494+2450C>A), 53128528(c.494+2389G>C), 53128532(c.494+2385T>G), 53128647(c.494+2270C>T), 53129757(c.494+1160C>A), 53129791(c.494+1126C>T), 53129849(c.494+1068C>A), 53129853(c.494+1064A>G), 53129968(c.494+949T>C), 53130128(c.494+789C>T), 53130146(c.494+771T>C), 53130150(c.494+767A>C), 53130189(c.494+728G>A), 53130227(c.494+690T>C), 53130233(c.494+684C>T), 53130306(c.494+611T>A), 53130325(c.494+592T>C), 53130350(c.494+567T>C), 53130357(c.494+560T>C), 53130374(c.494+543T>G), 53130454(c.494+463G>A), 53130467(c.494+450G>A), 53130484(c.494+433C>T), 53130487(c.494+430G>C), 53130498(c.494+419G>T), 53130543(c.494+374G>A), 53130614(c.494+303C>T), 53130627(c.494+290C>T), 53130665(c.494+252T>C), 53130675(c.494+242C>T), 53130678(c.494+239C>T), 53130857(c.494+60C>T), 53130860(c.494+57A>G), 53130877(c.494+40A>G), 53131000(c.464-53C>T), 53131026(c.464-79T>C), 53131185(c.464-238T>C), 53131210(c.464-263A>T), 53131301(c.464-354C>T), 53131310(c.464-363C>T), 53131428(c.463+322C>T), 53131450(c.463+300G>A), 53131455(c.463+295T>C), 53131477(c.463+273A>T), 53131536(c.463+214T>C), 53131557(c.463+193C>G), 53131624(c.463+126C>T), 53131661(c.463+89A>C), 53131695(c.463+55G>C), 53132053(c.176-16T>C), 53132109(c.176-72A>G), 53132244(c.176-207A>G), 53132264(c.176-227C>T), 53132335(c.176-298A>C), 53132427(c.176-390C>T), 53132440(c.176-403T>A), 53132495(c.176-458A>T), 53132498(c.176-461C>G), 53132536(c.176-499T>A), 53132675(c.176-638C>T), 53132727(c.176-690T>G), 53132729(c.176-692T>A), 53132785(c.176-748A>G), 53132853(c.176-816T>C), 53132906(c.176-869C>T), 53132935(c.176-898T>C), 53132954(c.176-917G>T), 53133511(c.176-1474C>T), 53133710(c.176-1673A>G), 53133757(c.176-1720C>T), 53133839(c.176-1802C>T), 53133856(c.176-1819C>A), 53133863(c.176-1826C>T), 53133966(c.176-1929T>C), 53134015(c.176-1978G>A), 53134086(c.176-2049C>T), 53134096(c.176-2059T>A), 53134353(c.176-2316C>T), 53134354(c.176-2317C>T), 53134404(c.176-2367C>T), 53134579(c.176-2542T>C), 53134670(c.176-2633C>A), 53134746(c.176-2709G>A), 53134952(c.176-2915A>G), 53134953(c.176-2916C>T), 53137466(c.176-5429T>A), 53137545(c.176-5508T>C), 53137595(c.176-5558A>G), 53137604(c.176-5567G>T), 53137709(c.176-5672T>C), 53137746(c.176-5709T>C), 53137820(c.176-5783C>T), 53137874(c.176-5837G>A), 53137965(c.176-5928T>C), 53138057(c.176-6020A>G), 53138071(c.176-6034G>A), 53138186(c.176-6149A>G), 53138199(c.176-6162C>T), 53138205(c.176-6168A>G), 53138354(c.176-6317T>A), 53138487(c.176-6450C>T), 53138706(c.176-6669C>T), 53140644(c.175+5990G>T), 53140710(c.175+5924C>T), 53140862(c.175+5772G>A), 53141059(c.175+5575C>T), 53141061(c.175+5573A>T), 53141241(c.175+5393T>A), 53141316(c.175+5318T>C), 53141433(c.175+5201G>A), 53141497(c.175+5137G>T), 53141580(c.175+5054C>T), 53141602(c.175+5032T>C), 53141610(c.175+5024T>C), 53141632(c.175+5002C>G), 53141756(c.175+4878C>T), 53141888(c.175+4746C>G), 53141909(c.175+4725A>G), 53142008(c.175+4626C>T), 53142019(c.175+4615T>C), 53142024(c.175+4610A>G), 53142030(c.175+4604T>C), 53142063(c.175+4571C>T), 53142100(c.175+4534C>A), 53142148(c.175+4486G>A), 53142343(c.175+4291G>A), 53142427(c.175+4207A>C), 53142606(c.175+4028T>C), 53142650(c.175+3984T>C), 53142651(c.175+3983G>A), 53142767(c.175+3867A>C), 53142812(c.175+3822T>C), 53142818(c.175+3816A>G), 53142847(c.175+3787G>A), 53142867(c.175+3767A>C), 53142870(c.175+3764G>T), 53142938(c.175+3696T>C), 53142992(c.175+3642A>G), 53143047(c.175+3587A>G), 53143147(c.175+3487A>C), 53143183(c.175+3451A>G), 53143417(c.175+3217T>C), 53143455(c.175+3179A>C), 53143462(c.175+3172A>G), 53143467(c.175+3167T>C), 53143542(c.175+3092G>T), 53143544(c.175+3090T>A), 53143639(c.175+2995G>A), 53143693(c.175+2941G>T), 53143713(c.175+2921A>G), 53143752(c.175+2882T>C), 53143766(c.175+2868C>G), 53143877(c.175+2757G>T), 53143883(c.175+2751T>C), 53144024(c.175+2610C>T), 53144026(c.175+2608T>C), 53144041(c.175+2593A>T), 53144053(c.175+2581A>G), 53144084(c.175+2550G>A), 53144136(c.175+2498G>A), 53144272(c.175+2362A>T), 53144316(c.175+2318T>C), 53144556(c.175+2078A>C), 53145553(c.175+1081A>G), 53145726(c.175+908G>A), 53145737(c.175+897T>G), 53145769(c.175+865C>G), 53145804(c.175+830T>G), 53145959(c.175+675T>G), 53146112(c.175+522C>T), 53146217(c.175+417A>G), 53146250(c.175+384G>A), 53146419(c.175+215G>T), 53146535(c.175+99G>A), 53146577(c.175+57C>T), 53146619(c.175+15G>C), 53146731(c.98-20G>A), 53146741(c.98-30C>T), 53146885(c.98-174G>A), 53147000(c.98-289G>A), 53147005(c.98-294A>T), 53147010(c.98-299C>T), 53147114(c.98-403G>A), 53147156(c.98-445G>A), 53147224(c.98-513C>T), 53147231(c.98-520T>C), 53147393(c.98-682C>G), 53147445(c.98-734C>T), 53147487(c.98-776A>C), 53147722(c.98-1011C>T), 53147751(c.98-1040A>C), 53147769(c.98-1058A>G), 53147796(c.98-1085G>A), 53147797(c.98-1086A>G), 53147817(c.98-1106T>G), 53148113(c.98-1402T>C), 53148185(c.98-1474G>A), 53148187(c.98-1476C>A), 53148482(c.98-1771T>C), 53148570(c.98-1859C>A), 53148577(c.98-1866G>C), 53148630(c.98-1919G>T), 53148649(c.98-1938G>A), 53148689(c.98-1978A>G), 53148717(c.98-2006C>T), 53148749(c.98-2038T>C), 53148764(c.98-2053T>C), 53148767(c.98-2056A>G), 53148843(c.98-2132C>T), 53148890(c.98-2179A>G), 53148917(c.98-2206C>T), 53148923(c.98-2212G>A), 53149003(c.98-2292A>C), 53149007(c.98-2296T>C), 53149039(c.98-2328A>T), 53149074(c.98-2363A>T), 53149167(c.98-2456T>C), 53149181(c.98-2470A>G), 53149325(c.98-2614C>T), 53149366(c.98-2655G>A), 53149370(c.98-2659A>G), 53149435(c.98-2724T>C), 53149467(c.98-2756T>C), 53149518(c.98-2807T>A), 53149691(c.98-2980G>A), 53149863(c.98-3152T>C), 53150156(c.98-3445G>A), 53150167(c.98-3456A>G), 53150256(c.98-3545T>A), 53150409(c.98-3698A>G), 53150444(c.98-3733C>T), 53150503(c.98-3792G>A), 53150567(c.98-3856G>A), 53150598(c.98-3887A>T), 53150668(c.98-3957C>T), 53150820(c.98-4109T>C), 53151005(c.98-4294T>G), 53151015(c.98-4304T>G), 53151025(c.98-4314T>G), 53151035(c.98-4324T>G), 53151045(c.98-4334T>G), 53151261(c.98-4550T>C), 53151454(c.98-4743G>A), 53151577(c.98-4866A>G), 53151599(c.98-4888A>G), 53151627(c.98-4916C>T), 53151885(c.98-5174G>C), 53152089(c.98-5378C>T), 53152176(c.98-5465C>T), 53152955(c.98-6244A>T), 53153039(c.98-6328C>T), 53153040(c.98-6329A>C), 53153135(c.98-6424A>G), 53153171(c.98-6460T>C), 53153217(c.98-6506C>T), 53153223(c.98-6512C>T), 53153247(c.98-6536A>G), 53153291(c.98-6580C>A), 53153322(c.98-6611G>A), 53153490(c.98-6779A>G), 53153491(c.98-6780A>G), 53153492(c.98-6781A>G), 53153498(c.98-6787A>G), 53153557(c.98-6846C>T), 53153585(c.98-6874T>A), 53153819(c.98-7108G>T), 53153915(c.98-7204A>T), 53154019(c.98-7308G>A), 53154139(c.98-7428G>A), 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-1kb

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+1kb

5'UTR

CDS

3'UTR

INTRON

53112688 (c.1386+359_1386+360insGCAGAT), 53116330 (c.1183+804_1183+805insC), 53117548 (c.938-169dupA), 53124036 (c.495-2246dupC), 53124849 (c.495-3059_495-3058insC), 53124853 (c.495-3064_495-3063dupAC), 53124859 (c.495-3069dupA), 53125134 (c.495-3344_495-3343insT), 53126602 (c.494+4312_494+4314dupTGC), 53126851 (c.494+4065_494+4066insC), 53128493 (c.494+2423dupA), 53129042 (c.494+1871_494+1874dupAAAC), 53131192 (c.464-246dupA), 53132059 (c.176-23_176-22insC), 53135160 (c.176-3125_176-3124dupTG), 53143598 (c.175+3035dupG), 53146010 (c.175+623dupC), 53147630 (c.98-920dupC), 53148815 (c.98-2105_98-2104insG), 53149244 (c.98-2536_98-2534dupTAT), 53151073 (c.98-4363dupT), 53154282 (c.98-7572dupC), 53154780 (c.98-8070dupA), 53155528 (c.98-8819_98-8818dupGT), 53159800 (c.98-13090_98-13089insACCCCC), 53161002 (c.98-14292dupT), 53161612 (c.98-14907_98-14902dupCTCTCT), 53172934 (c.98-26224dupT), 53174937 (c.98-28227dupC), 53176856 (c.98-30146dupT), 53177183 (c.98-30473dupA), 53177488 (c.98-30778_98-30777insATT), 53177712 (c.98-31002_98-31001insC), 53180324 (c.98-33614_98-33613insA), 53181054 (c.98-34344dupC), 53181320 (c.98-34610_98-34609insTGGT), 53182322 (c.98-35612dupC), 53186968 (c.98-40258_98-40257insA), 53187025 (c.98-40315_98-40314insCTCTCC), 53189707 (c.98-42997_98-42996insA), 53190100 (c.98-43390_98-43389insTCT), 53190734 (c.98-44024dupT), 53191637 (c.98-44927_98-44926insCATAT), 53191761 (c.98-45053_98-45051dupTTC), 53192489 (c.98-45779_98-45778insATCCCT), 53194259 (c.98-47549_98-47548insTT), 53194416 (c.98-47706_98-47705insTA), 53194472 (c.98-47762dupT), 53194477 (c.98-47767_98-47766insT), 53195449 (c.98-48739_98-48738insGG), 53200122 (c.98-53413_98-53412dupTT), 53201565 (c.98-54860_98-54855dupGTGTGT), 53203339 (c.98-56629_98-56628insCTC), 53203381 (c.98-56671_98-56670insCCC), 53203724 (c.98-57014_98-57013insGGG), 53204540 (c.98-57830_98-57829insCC), 53204960 (c.98-58250dupG), 53205158 (c.98-58448_98-58447insC), 53206872 (c.98-60162_98-60161insG), 53207260 (c.98-60551_98-60550dupAT), 53208424 (c.98-61714_98-61713insC), 53209135 (c.98-62425_98-62424insGT), 53209747 (c.98-63038_98-63037dupAA), 53212073 (c.98-65363_98-65362insCGGCC), 53214267 (c.98-67557_98-67556insT), 53214339 (c.98-67629_98-67628insTCTC), 53215796 (c.98-69087_98-69086dupCT), 53216145 (c.98-69435_98-69434insA), 53216508 (c.97+69272_97+69273insGTAT), 53217675 (c.97+68105_97+68106insA), 53218173 (c.97+67607_97+67608insCA), 53218487 (c.97+67293_97+67294insT), 53221414 (c.97+64366dupT), 53223354 (c.97+62426_97+62427insTC), 53223422 (c.97+62358dupC), 53223429 (c.97+62351_97+62352insC), 53224256 (c.97+61524_97+61525insAA), 53225231 (c.97+60549_97+60550insAATCCA), 53226546 (c.97+59234_97+59235insTGTGGTTATG), 53227123 (c.97+58657_97+58658insGAT), 53232573 (c.97+53207_97+53208insT), 53233254 (c.97+52526dupA), 53233439 (c.97+52341_97+52342insAT), 53234237 (c.97+51543dupC), 53235942 (c.97+49835_97+49838dupAAAA), 53236135 (c.97+49645dupA), 53239400 (c.97+46380_97+46381insAAG), 53239866 (c.97+45914_97+45915insC), 53239877 (c.97+45903_97+45904insAA), 53243976 (c.97+41804dupA), 53243982 (c.97+41798dupA), 53249700 (c.97+36079_97+36080dupCC), 53250781 (c.97+34999_97+35000insA), 53258421 (c.97+27359_97+27360insT), 53258507 (c.97+27273_97+27274insTT), 53259998 (c.97+25782dupC), 53264023 (c.97+21757_97+21758insAT), 53268999 (c.97+16780_97+16781dupAC), 53274550 (c.97+11222_97+11230dupAACCAAACC),

-1kb

53107327 (c.*2892_*2893insTGTG),

+1kb

53287670 (c.-1794delT),

5'UTR

CDS

3'UTR

53109730 (c.*488_*489delTT),

INTRON

53112798 (c.1386+249delA), 53112954 (c.1386+93delG), 53114744 (c.1184-1495delG), 53118509 (c.937+178_937+181delCCTT), 53119674 (c.623-678_623-670delCCCCCCCCC), 53121389 (c.622+267_622+274delGCACACAC), 53124839 (c.495-3049delC), 53124845 (c.495-3055delA), 53125574 (c.495-3785_495-3784delGT), 53127137 (c.494+3773_494+3779delAGATAGA), 53127809 (c.494+3104_494+3107delCAGT), 53128395 (c.494+2521delT), 53128776 (c.494+2138_494+2140delGGC), 53130331 (c.494+584_494+585delAG), 53132132 (c.176-96delG), 53134071 (c.176-2035delA), 53134757 (c.176-2721delA), 53141721 (c.175+4910_175+4912delTTC), 53142250 (c.175+4383delC), 53143092 (c.175+3539_175+3541delGGT), 53143862 (c.175+2766_175+2771delCCTCTG), 53144297 (c.175+2336delT), 53145614 (c.175+1019delT), 53146980 (c.98-274_98-270delCTGTC), 53147076 (c.98-370_98-366delTGTTT), 53148065 (c.98-1355delC), 53148215 (c.98-1505delG), 53148693 (c.98-1983delT), 53148809 (c.98-2099delT), 53151418 (c.98-4709_98-4708delGG), 53152501 (c.98-5794_98-5791delAAAA), 53153492 (c.98-6783_98-6782delCT), 53157820 (c.98-11110delT), 53159009 (c.98-12299delT), 53162080 (c.98-15377_98-15370delTTTGTTTG), 53164350 (c.98-17641_98-17640delGA), 53166485 (c.98-19775delA), 53166618 (c.98-19910_98-19908delATA), 53167242 (c.98-20532delA), 53169113 (c.98-22407_98-22403delAGACT), 53169717 (c.98-23010_98-23007delCTCC), 53176186 (c.98-29477_98-29476delAT), 53176254 (c.98-29547_98-29544delTGAG), 53176261 (c.98-29554_98-29551delGAGT), 53177326 (c.98-30616delC), 53177707 (c.98-31001_98-30997delTCCCC), 53179857 (c.98-33151_98-33147delGTCTC), 53180400 (c.98-33690delT), 53180402 (c.98-33692delT), 53181211 (c.98-34501delC), 53181213 (c.98-34503delC), 53182058 (c.98-35351_98-35348delACTG), 53182067 (c.98-35361_98-35357delCTGAC), 53182188 (c.98-35478delT), 53182748 (c.98-36045_98-36038delGCGCGCGC), 53182994 (c.98-36292_98-36284delATTAATAAT), 53186624 (c.98-39914delA), 53186966 (c.98-40258_98-40256delCCC), 53188793 (c.98-42084_98-42083delTA), 53189372 (c.98-42664_98-42662delCAA), 53189708 (c.98-43002_98-42998delCCCCC), 53190088 (c.98-43378delT), 53191371 (c.98-44661delA), 53191515 (c.98-44806_98-44805delAT), 53191675 (c.98-44966_98-44965delAA), 53194210 (c.98-47500delG), 53195330 (c.98-48620delA), 53196161 (c.98-49451delG), 53196372 (c.98-49662delT), 53197012 (c.98-50302delG), 53199028 (c.98-52318delC), 53199423 (c.98-52713delT), 53202689 (c.98-55980_98-55979delTA), 53203358 (c.98-56652_98-56648delCCCTC), 53203381 (c.98-56673_98-56671delTTT), 53206242 (c.98-59535_98-59532delTACA), 53206837 (c.98-60137_98-60127delGGTGTGTGCTA), 53207635 (c.98-60930_98-60925delACTGTT), 53207818 (c.98-61110_98-61108delTTG), 53208446 (c.98-61741_98-61736delTCACCA), 53208568 (c.98-61860_98-61858delATA), 53208888 (c.98-62178delA), 53210590 (c.98-63880delG), 53211681 (c.98-64971delC), 53211863 (c.98-65160_98-65153delGGGGGGGG), 53212755 (c.98-66045delA), 53213909 (c.98-67206_98-67199delGTTTGTTT), 53214410 (c.98-67703_98-67700delTTTG), 53214433 (c.98-67726_98-67723delTTGT), 53214603 (c.98-67896_98-67893delTCTG), 53215350 (c.98-68647_98-68640delTTTTTTGT), 53215369 (c.98-68659delG), 53218187 (c.97+67591_97+67593delCCA), 53218513 (c.97+67264_97+67267delCCCA), 53218518 (c.97+67258_97+67262delTACCC), 53220316 (c.97+65464delA), 53222228 (c.97+63550_97+63552delCAC), 53222850 (c.97+62930delG), 53222963 (c.97+62814_97+62817delATGA), 53222998 (c.97+62779_97+62782delCCAA), 53223569 (c.97+62211delG), 53223734 (c.97+62042_97+62046delTTCGT), 53224718 (c.97+61061_97+61062delGA), 53227008 (c.97+58772delG), 53229138 (c.97+56640_97+56642delCCC), 53229383 (c.97+56397delC), 53230192 (c.97+55583_97+55588delTTATTA), 53232104 (c.97+53669_97+53676delAAAGAAAA), 53232413 (c.97+53364_97+53367delGTCA), 53232454 (c.97+53323_97+53326delAGTC), 53232635 (c.97+53145delT), 53233060 (c.97+52720delA), 53233069 (c.97+52711delA), 53233104 (c.97+52671_97+52676delCACACA), 53233487 (c.97+52293delA), 53234754 (c.97+51022_97+51026delCTTTC), 53235178 (c.97+50601_97+50602delCT), 53235514 (c.97+50263_97+50266delCAAA), 53237411 (c.97+48367_97+48369delAAG), 53239075 (c.97+46705delA), 53239931 (c.97+45849delC), 53239967 (c.97+45811_97+45813delGAG), 53239972 (c.97+45808delA), 53241043 (c.97+44734_97+44737delCACT), 53243954 (c.97+41826delC), 53250410 (c.97+35370delA), 53250416 (c.97+35360_97+35364delAAAGA), 53252044 (c.97+33729_97+33736delGTGTGTGT), 53255935 (c.97+29844_97+29845delAA), 53260954 (c.97+24824_97+24826delGGA), 53264579 (c.97+21201delG), 53265910 (c.97+19865_97+19870delACACAC), 53269818 (c.97+15957_97+15962delGGCTAG), 53276108 (c.97+9668_97+9672delTTGTT), 53280357 (c.97+5422_97+5423delAG), 53280938 (c.97+4839_97+4842delTGTG), 53284263 (c.97+1516_97+1517delCC),

-1kb

53105037 (c.*5182delC), 53105544 (c.*4668_*4675delCACACACA), 53107590 (c.*2626_*2629delGATT), 53108793 (c.*1425_*1426delTG), 53108876 (c.*1338_*1343delCGCGCG), 53108885 (c.*1329_*1334delGCGCGC),

MARGWVRPSRVPLCARAVWTAAALLLWTPWTAGEVEDSEAIDTLGQPDGPDSPLPTLKGY
FLNFLEPVNNITIVQGQTAILHCKVAGNPPPNVRWLKNDAPVVQEPRRVIIRKTEYGSRL
RIQDLDTTDTGYYQCVATNGLKTITATGVLYVRLGPTHSPNHNFQDDDQEDGFCQPYRGI
ACARFIGNRTIYVDSLQMQGEIENRITAAFTMIGTSTQLSDQCSQFAIPSFCHFVFPLCD
ARSRAPKPRELCRDECEVLENDLCRQEYTIARSNPLILMRLQLPKCEALPMPESPDAANC
MRIGIPAERLGRYHQCYNGSGADYRGMASTTKSGHQCQPWALQHPHSHRLSSTEFPELGG
GHAYCRNPGGQVEGPWCFTQNKNVRVELCDVPPCSPRDGSKMGILYILVPSIAIPLVIAC
LFFLVCMCRNKQKASASTPQRRQLMASPSQDMEMPLISQHKQAKLKEISLSTVRFMEELG
EDRFGKVYKGHLFGPAPGEPTQAVAIKTLKDKAEGPLREEFRQEAMLRARLQHPNIVCLL
GVVTKDQPLSMIFSYCSHGDLHEFLVMRSPHSDVGSTDDDRTVKSALEPPDFVHVVAQIA
AGMEFLSSHHVVHKDLATRNVLVYDKLNVRISDLGLFREVYSADYYKLMGNSLLPIRWMS
PEAVMYGKFSIDSDIWSYGVVLWEVFSYGLQPYCGYSNQDVVEMIRSRQVLPCPDDCPAW
VYALMIECWNEFPSRRPRFKDIHSRLRSWGNLSNYNSSAQTSGASNTTQTSSLSTSPVSN
VSNARYMAPKQKAQPFPQPQFIPMKGQIRPLVPPAQLYIPVNGYQPVPAYGAYLPNFYPV
QIPMQMAPQQVPPQMVPKPSSHHSGSGSTSTGYVTTAPSNTSVADRAALLSEGTEDAQNI
AEDVAQSPVQEAEEEEEGSVPETELLGDNDTLQVTEAAHVQLEA*

MARGWVRPSRVPLCARAVWTAAALLLWTPWTAGEVEDSEAIDTLGQPDGPDSPLPTLKGY
FLNFLEPVNNITIVQGQTAILHCKVAGNPPPNVRWLKNDAPVVQEPRRVIIRKTEYGSRL
RIQDLDTTDTGYYQCVATNGLKTITATGVLYVRLGPTHSPNHNFQDDDQEDGFCQPYRGI
ACARFIGNRTIYVDSLQMQGEIENRITAAFTMIGTSTQLSDQCSQFAIPSFCHFVFPLCD
ARSRAPKPRELCRDECEVLENDLCRQEYTIARSNPLILMRLQLPKCEALPMPESPDAANC
MRIGIPAERLGRYHQCYNGSGADYRGMASTTKSGHQCQPWALQHPHSHRLSSTEFPELGG
GHAYCRNPGGQMEGPWCFTQNKNVRVELCDVPPCSPRDGSKMGILYILVPSIAIPLVIAC
LFFLVCMCRNKQKASASTPQRRQLMASPSQDMEMPLISQHKQAKLKEISLSTVRFMEELG
EDRFGKVYKGHLFGPAPGEPTQAVAIKTLKDKAEGPLREEFRQEAMLRARLQHPNIVCLL
GVVTKDQPLSMIFSYCSHGDLHEFLVMRSPHSDVGSTDDDRTVKSALEPPDFVHVVAQIA
AGMEFLSSHHVVHKDLATRNVLVYDKLNVRISDLGLFREVYSADYYKLMGNSLLPIRWMS
PEAVMYGKFSIDSDIWSYGVVLWEVFSYGLQPYCGYSNQDVVEMIRSRQVLPCPDDCPAW
VYALMIECWNEFPSRRPRFKDIHSRLRSWGNLSNYNSSAQTSGASNTTQTSSLSTSPVSN
VSNARYMAPKQKAQPFPQPQFIPMKGQIRPLVPPAQLYIPVNGYQPVPAYGAYLPNFYPV
QIPMQMAPQQVPPQMVPKPSSHHSGSGSTSTGYVTTAPSNTSVADRAALLSEGTEDVQNI
AEDVAQSPVQEAEEEEEGSVPETELLGDNDTLQVTEAAHVQLEA*

..........CCAGCACTCCCAACGAAGCTCACAATCATCTGCAACCTTAGCTTAAGGGG
ATGTAAAGCCCTCTTCTGACCTCCTCTGTCACTGCACACATCTAGGTCACAGCCATGCAC
GCAGGTACTCACACATGCATGTAAAATAAAAATGAGCACATCTCAAAGCAGCAACAACAA
AGGCTGGGGATGTAGATCAAACTGTTTGCCTAATATGTAGAAGACCTTGAATTAAACTCC
CAGCCTCCTCCTTTCAAATATTTGAAGTGATATTCCCCAGAAGAAGTTTAGGCTGTTGGT
GAACAAAGGAAAGATACTACCGTGCAAAGGCACATAACATTCATTAGGAAAATACACGTT
AACACATACATTGTCGACGCCCTGGTCTCCAGTGTGTTCTTGGGATACTCCAGGACCCCT
CGCTCAAGCTCTGCCCCAGGACCCTTCACTTCCCTGATGTGTGCTGGCTGTTGTCATAGC
CTTGGTTGGCTCCCATCCTACTACCCTCATTAATGGGGCGTGTGCTGACTTTTTGCTAGA
TTCCCGGAGGGTCCTGATCCTCCCAAGGGGCTTGGCAGGACGCCCATGGGGACGCAGCCG
GCTATATTCTGGAAAATCTGTGTTCGAAGACCATACCTCATCTCTCACTTTGGGCCCAGG
ATTTCGAAGAACTGACAACTGAATTCCCCTCGTGGGGCTTCATCAAGGGACGCCTAGTTA
ATGATTTGTGTGGTCCAGGTCCCCAAGTTTCCAGGCTTCTGATGGTGGGTGGCAACACTG
CTGCAAGAGCAGATGAACCGGAGGCTCCACCTTTGTGCCTAGAAGTCCCGGAGGCGCTGG
CGGGAGGGCGGGTGCTGCAGGCGGCTCCCTGGACGCAGGGGCGGACCCGGCTCCTTCCCG
CTCACTCGGGTCGCTGCCCTTGAGTCACTCCGGCAGAGGGCGCCGGCGCCGGCCTCTCTG
CCCATCGGGGCGGGCGAGCTGGGGACCCTGCCTCCTGCGCGCCCGCCCGC

GTTCCGCCCCCCCTGTGCTCTTCCCGGCGGCCGGCGGGACGCCCGTGCCCGAGCCCCAGA
GTCTCTGCAGTGAATCGGTGCATCGGGGCAGGGAAAAAGGGACACCAGAGTGGCCCTCGA
AGGGGACCAGCCTGCGAAGCGCGAGGAAGGAAGAAGCGGACGCGTGGCGGGGAGGGGTTG
AGGCGCCCCGGCCCGAAGCCCAAAGGCCGAGCGCGCGGTAGGCGACCGGGCACCCACGGC
CCGCAGCATGGCTCGGGGCTGGGTGCGGCCGAGCCGTGTGCCTCTGTGCGCCCGGGCCGT
CTGGACGGCTGCGGCGCTCCTGCTCTGGACACCCTGGACGGCAG

GTAAGGACCCTGCGTGCGCCCTCCG..........CATGTATGTGTGCTCTTGCTTTCAG

GTGAAGTGGAAGATTCGGAGGCCATCGACACCTTGGGACAACCTGATGGACCGGACAGCC
CACTTCCCACTCTGAAAG

GTAAGATAGAAAAACAGCTGCTGTT..........TGACCCCCCTCCCCATCTGCTGCAG

GCTACTTTCTGAATTTTCTGGAGCCAGTCAACAATATCACCATTGTCCAGGGCCAGACGG
CAATCCTGCACTGCAAGGTGGCGGGAAACCCACCTCCCAACGTGCGGTGGCTGAAGAATG
ACGCCCCGGTTGTGCAAGAGCCACGAAGGGTCATCATCCGGAAGACAGAATACGGCTCCC
GGCTGCGGATCCAAGACCTGGACACAACAGACACAGGCTACTACCAGTGTGTGGCTACCA
ACGGGCTGAAGACCATCACTGCCACTGGAGTTCTGTATGTGCGGCTCG

GTGAGTGTGGACAGCAGAAGCCCAG..........TTGTCTTTTTGTTTTGTGTCTTTAG

GTCCAACGCACAGCCCGAACCACAATTTTCA

GTAAGTTCGCGTCTCCATCACTTGG..........CACGGAGGTTTGTTTGTCTTTCCAG

GGATGACGATCAGGAAGATGGCTTCTGCCAGCCGTACCGAGGGATCGCTTGTGCGCGCTT
CATTGGGAACCGGACTATTTATGTGGACTCCCTCCAGATGCAGGGGGAGATTGAAAACCG
AATCACAG

GTAGGTCGCACAGCCCCCTCGGGGT..........GGCTCACACGTTTTTCTTCCTGCAG

CTGCCTTCACCATGATCGGCACCTCCACGCAACTGTCAGACCAGTGTTCACAGTTTGCCA
TCCCATCCTTCTGCCACTTCGTCTTCCCTCTGTGCGACGCACGCTCCCGGGCGCCCAAGC
CTCGCGAACTGTGCCGGGATGAATGTGAGGTGCTGGAGAACGACCTGTGCCGCCAGGAGT
ACACCATCGCCCGCTCCAACCCGCTCATCCTCATGCGGCTCCAGCTGCCCAAGTGCGAAG
CGCTGCCCATGCCCGAGAGCCCGGATGCTGCGAACTGCATGCGCATCGGGATCCCCGCGG
AGAGGCTGGGTCGCT

GTGAGTGTCATCCTGAGGGTGCAGA..........GCCGCTAACTCTCTGTTTCTCTCAG

ACCACCAGTGCTACAACGGCTCCGGCGCCGATTACAGGGGGATGGCCAGTACCACCAAGT
CAGGCCACCAGTGTCAGCCTTGGGCTCTGCAGCACCCCCACAGCCATCGCCTATCCAGCA
CGGAATTCCCTGAGCTGGGAGGAGGCCATGCCTACTGCCGGAACCCCGGGGGCCAGATGG
AAGGCCCGTGGTGCTTTACGCAGAATAAAAACGTACGCGTGGAACTGTGTGACGTACCCC
CGTGTA

GTATGTATTCTCTCTATATATACAT..........CACAAGTCCCCTCTGTGGTACCCAG

GTCCCCGAGATGGCAGCAAGATGGGGATTCTGTACATCCTGGTCCCCAGCATTGCCATCC
CCCTGGTCATCGCTTGCCTGTTCTTCCTCGTCTGCATGTGCCGCAACAAACAGAAGGCTT
CGGCCTCCACCCCACAGCGCCGGCAGCTGATGGCCTCTCCCAGCCAGGACATGGAGATGC
CACTCATCAGCCAGCACAAACAG

GTCCTCCAGCCCATAATGAGGCAGC..........ATATTTGACTTTTTCCTCCCGGCAG

GCCAAACTCAAAGAGATCAGCTTGTCCACAGTGAGGTTCATGGAGGAGCTCGGGGAGGAC
CGGTTTGGCAAGGTCTACAAAGGCCACCTGTTCGGGCCTGCCCCAGGAGAACCAACCCAG
GCCGTGGCCATCAAGACGCTGAAAGACAAGGCTGAGGGGCCCCTGCGGGAGGAGTTCCGG
CAAGAGGCGATGCTCCGGGCCCGACTGCAGCACCCCAACATCGTCTGTCTCCTAGGCGTC
GTGACCAAGGACCAACCCTTGAGCATGATCTTCAGCTACTGTTCCCATGGCGACCTTCAT
GAATTCCTGGTCATGCGCTCGCCGCACTCCGATGTGGGTAGCACCGATGACGACCGCACA
GTGAAGTCAGCCCTGGAGCCCCCGGACTTCGTGCACGTGGTGGCGCAGATCGCTGCGGGG
ATGGAGTTCCTGTCCAGCCACCACGTGGTCCATAAGGACCTGGCCACACGCAATGTGCTG
GTGTACGACAAGCTGAACGTGAGGATCTCAGACTTGGGCCTCTTCCGTGAGGTATACTCC
GCAGATTACTACAAACTCATGGGCAATTCACTGCTGCCCATCCGCTGGATGTCCCCCGAG
GCCGTCATGTATGGAAAGTTCTCCATCGACTCTGACATCTGGTCCTACGGTGTGGTCCTC
TGGGAGGTCTTTAGCTACGGCCTGCAGCCCTACTGTGGGTACTCCAACCAGGACGTGGTG
GAGATGATCCGGAGCCGGCAGGTGCTGCCCTGCCCGGATGACTGCCCCGCCTGGGTCTAT
GCCCTCATGATTGAATGCTGGAATGAGTTCCCAAGCCGGAGGCCCCGCTTTAAGGACATC
CACAGCCGGCTCCGGTCCTGGGGCAACCTATCCAACTATAATAGTTCCGCGCAGACCTCA
GGAGCCAGCAACACCACACAGACCAGCTCCCTGAGCACCAGCCCCGTAAGCAATGTGAGC
AATGCCCGCTATATGGCCCCCAAGCAGAAGGCCCAGCCCTTCCCACAGCCTCAGTTCATC
CCCATGAAGGGTCAGATCAGACCCTTGGTGCCCCCCGCACAGCTGTACATCCCGGTGAAC
GGCTATCAGCCGGTACCGGCATACGGGGCCTACCTGCCCAACTTCTACCCAGTCCAGATC
CCCATGCAGATGGCCCCACAGCAGGTGCCCCCTCAGATGGTCCCCAAGCCGAGCTCACAC
CACAGTGGCAGCGGCTCCACCAGCACTGGCTACGTCACCACGGCGCCCTCCAATACATCT
GTGGCGGACAGGGCGGCCCTACTCTCTGAGGGCACCGAGGATGTACAGAACATCGCGGAA
GACGTGGCCCAGAGCCCTGTGCAGGAAGCAGAGGAGGAGGAGGAGGGGTCTGTCCCTGAG
ACTGAACTCCTGGGAGACAATGACACGCTCCAGGTGACCGAGGCGGCTCATGTCCAGCTT
GAAGCCTGAGGAATATAAGGGGCCTGGAGCACCAGCCCTGCTGTGACCAGATGGGGACCT
CAAAATGGCTCTGTGAAGTCCCAAAGAGGGGCCCATCACCAGAGCCCAGGGACTGGCAGG
CTGGTTTGAGCCTACCCACCTGAGACTGTGAGAGATTTTATACTATCTCCTGCACCCTGT
GCCCATAAAACTGCCGCTGCAGCGCCGACTTGGCTGGAGGCCATTTCAGACAGGGACCCT
GGGCAGGGTCCCTGCAGCGTGACCACCTCAGAAACAGGACAGGGAGACCCCGCCTCTGTC
TGCTTTATCCTGATGGTAGATGGGTAGTGAGCTAAGGATATTGGGCACAGAAACAGGCTA
CATCTTCACCGCCCTGCTTTATGGGCGGAGGGTTCAGAGACTGGGGGCGGAGGCATGGCC
GCGACAGGCAGCAGAGAGGCACCTTGGAGCTTAGATGCTCCGTGAGCCCCCTGCTGGCGG
AGGATGGAGAGAGTTTTTCTTTCTCTCTGTGGCCCCCTGCGAACGTGTTCTTTTTTAACA
GCCAAAGGCCAGCAGGAGCTCGATGCCGCCATCTGCTGGGGTCCAAAGGACAGAGTTGCT
TCTGAACACTTGGGAGTGCCTTGTATTAAAGAGAGAAAAAAAAGTGCCTTTACAAAAACC
AGCACGATTTTGTATTTTTGTGAAGGGTTTTAACTATACTGCGTGTGTATTTTGCCTACT
TTTCTGGAATTCAAAGGAAAAAATGTTTCCTGGGTTTAGAATGTTCAAAAGGAAGCAACG
TTGTACAGAAAGCAGTATTGTTAATTTTTTAAAAAAAGAATCCTGTGCAGACCCTAAATG
TAATTTATATGGTTTTCCGTGTGCCGTTTTCATGGAAGTGTTTTGATCCTGAATAATGAC
TTAGTAATTTAA

CTGTGTGTATTATCTCTGGGATACCACCACACTGTGGGTGTGTCTGCCTTCATTCTGCCA
CATGTGGTGAGGTCCTTCCATTTCAGAGTTCCCATGCCACACAGGCCACGGGAAAGCTGC
CTGGCACAGGGTGTCAGTTCCTTTTGTAGACCCCGTGCCTGGTGTATCCAGTAAGTGAAC
GTTTGTTTGGAACTTCGGCAGGTGGGGGAGGATGTGTGGTCAAGGTGGACTCCTGCTGGA
TGAGGGAGCACTTGGGAAGGGTTTGGGCTGAAGCTTGCTGTGAATTTACAGTATTGCTAG
AACCAGTGGCTCCATGAGAAAGAAACAAAAGCAGAGGCAAATGACAGAGACAACAGGCAC
CCTTTTCTCTCCAATTTGTATTGCTTTGTATGTATGGTTTCATGCATGTGTCTGTGTGTG
TGTGTGCGCGCGCGCGCGCGTTCGCATGTGTGTGTGTATACATGTGTATGTGCAAGTGTG
GTGTGAGCATGTGTGCCTGTGTTTGCACATGTGTGCATGTTTGTGTGCACACGCATATGT
GTGCATGAGTGTGTGTTTGCATCTGTGTGCATCTGTGTGCAAGTGTTTGCTTGTGTGTGT
GTGTGTGTGTGTGTGTGTACCATGTATCATAGTGTGTGAGTGGAGTTTCATTTTCTACCA
TGCAGGCCCTAGGGATTAAACTCAGGTCATCAGGCTTGGCAACAAGCACAACAGCCTGCT
GAGCCATGTTGCCAGTTCCTACTGCCTGTTGGTGTTTTAAATCAATCTTTCCCTCCCTCC
CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCCACATTA
TATCCACTTACTCTATCTTAGATTGGCATGTTAGTTGCACATATTTCCAGGGTGTTCAGT
GTGATGTGCCCACCCACGTATAGAATTCACACTGATTGATTGAATCCAGCCCTCTCTTAG
GAATCTATTCCCCGCCCCCCCCCAACACACTGCTTTTCTG..........