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    Micro mutations (sorted by position):

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    Nucleotide changeMolecular consequence
    TraditionalHUGOCDSpositionTraditionalHUGO
    -103C>T g.1080C>T c.- promoter - -
    -40C>G g.1143C>T c.- promoter - -
    229T>C g. c.2T>C exon 2 p.Met-22Thr Met1Thr
    262T>G g. c.35T>G exon 2 p.Leu-11Arg Leu12Arg
    263_264insG g. c.36_37insG exon 2 p.Leu-10Alafs*7 p.Leu13Alafs*7
    414_421delTCCAGCTT g. c.187_194 delTCCAGCTT exon 3 p.Ser41Alafs*16 Ser63Alafs*16
    541delC g. c.314delC exon 3 p.Pro83Glnfs*43 Pro105Glnfs*43
    543delA g. c.316_317delA exon 3 p.Thr84Leufs*42 Thr106Leufs*42
    564G>A g.1746G>A c.-22-1G>A intron 1 splicing defect -
    566T>C g.1748T>C c.-21G>A exon 1 variant in 5' untranslated region -
    587A>G g. c.1A>G exon 2 Met-22Val Met1Val
    589_596dup8bp g.1771_1778dup c.3_10dup exon 2 frameshift Arg4fs
    591C>T g. c.5C>T exon 2 Ala-21Val Ala2Val
    602_603insGA g.1784_1785insGA c.16_17insGA exon 2 Frameshift Thr6fs
    626_641del10 g. c.40_49del10 exon 2 Frameshift
    635delGinsTT g.1817delGinsTT c.49delGinsTT exon 2 Frameshift Gly17fs
    638G>A g. c.51+1G>A intron 2 Splicing defect
    638G>A g.1820G>A c.51+1G>A intron 2 Splicing defect -
    640A>G g.1822A>G c.51+3A>G intron 2 splicing defect
    640A>G g.1822A>G c.51+3A>G intron 2
    642G>A g.1824G>A c.51+5G>A intron 2 splicing defect
    642G>A g.1824G>A c.51+5G>A intron 2 splicing defect -
    1020T>C g. c.793T>C exon 5 p.Trp243Arg Trp265Arg
    1536C>T g. c.1309C>T exon 8 p.Gln415* Gln437*
    1563delG g. c.1336delG exon 8 p.Val424Cysfs*4 Val446Cysfs*4
    2194delA g.3376delA c.52-2delA intron 2 splicing defect -
    2195G>A g. c.52-1G>A intron 2 Splicing defect
    2212_2213delAT g.3394_3395delAT c.74_75delAT exon 3 Frameshift Asn25fs
    2238C>T g.3420C>T c.94C>T exon 3 Gln10Stop Gln32Stop
    2250delAG g.3432_3433del c.106_107del exon 3 frameshift Glu35fs
    2264_2265delAG g.3446_3447del c.120_121del exon 3 Frameshift Arg30fs
    2304delC g.3486del c.160del exon 3 Frameshift Met53fs
    2340delC g. c.196delC exon 3 Frameshift
    2353C>G g.3535C>G c.209C>G exon 3 Ser48Stop Ser70Stop
    2393delT g.3575delT c.249delT exon 3 Frameshift Asn83fs
    2407delC g. c.275delC exon 3 Frameshift
    2445C>T g.3627 C>T c.301C>T exon 3 Gln79Stop Gln101Stop
    2454C>T g. c.310C>T exon 3 Gln82Stop Gln104Stop
    2458_2461delCAAC g.3640_3643del c.314_317del exon 3 Frameshift Pro105fs
    2466C>T g. c.322C>T exon 3 Gln86Stop Gln108Stop
    2467_2468insA g.3649_3650insA c.323_324insA exon 3 Frameshift Gln108fs
    2469_2481del13bp g. c.325_337del13bp exon 3 Frameshift
    2490C>T g.3672C>T c.34C>T exon 3 Gln94Stop Gln116Stop
    2495delC g.3677delC c.351delC exon 3 Frameshift Pro117fs
    2502_2521dup g. c.358_377dup exon 3
    2527_2528delCT g. c.383_384delCT exon 3 Frameshift
    2533G>A g.3715G>A c.389G>A exon 3 Cys108Tyr Cys130Tyr
    2534_2535delCT g.3716_3717del c.390_391del exon 3 Frameshift Cys130fs
    2544G>T g. c.400G>T exon 3 Glu112Stop Glu134Stop
    2544delG g.3726delG c.400delG exon 3 Frameshift Glu134fs
    2579_2620del42 g.3761_3802del c.435_476del exon 3 deletion of amino acid Leu146_Ala159del
    2581T>C g. c.437T>C exon 3 Leu124Ser Leu136Ser
    2588_2598del11bp g. c.444_455del11bp exon 3 Frameshift
    2589T>G g.3771T>G c.445T>G exon 3 Phe127Val Phe149Val
    2593C>T g.3775C>T c.449C>T exon 3 Ser128Phe Ser150Phe
    2603delC g. c.459delC exon 3 Frameshift
    2608A>G g.3790A>G c.464A>G exon 3 His133Arg His155Arg
    2611C>A g. c.467C>A exon 3 Ala134Asp Ala156Asp
    2644T>G g. c.500T>G exon 3 Met145Arg Met167Arg
    2646G>C g. c.502G>C exon 3 Ala146Pro ala168Pro
    2650T>C g.3472T>C c.146T>C exon 3 Phe147Ser Phe169Ser
    2652T>C g.3834T>C c.508T>C exon 3 Ser148Pro Ser170Pro
    2656C>T g.3838C>T c.512C>T exon 3 Pro149Leu Pro171Leu
    2674T>C g.3856T>C c.530T>C exon 3 Leu155Pro Leu177Pro
    2677T>C g. c.533T>C exon 3 Leu156Pro Leu178Pro
    2678_2679insTT g. c.534_535insTT exon 3 Frameshift
    2679insTT g.3861_3862insTT c.535_536insTT exon 3 frameshift Leu178fs
    2694G>C g.3876G>C c.550G>C exon 3 Gly162Arg or splicing Gly184Arg or splicing
    2694G>A g.3876G>A c.550G>A exon 3 splicing defect or Gly162Arg Gly184Arg
    2695G>A g.3877G>A c.550+1G>A intron 3 Splicing defect -
    2696_2697insT g.3878_3879insT c.550+2_550+3insT intron 3 Splicing defect -
    2699G>A g.3881G>A c.550+5G>A intron 3
    2699G>C g.3881G>C c.550+5G>C intron 3
    4348C>G g. c.551-3C>G intron 4 Splicing defect
    4349A>G g. c.551-2A>G intron 3 Splicing defect
    4349delA g.5531delA c.551-2delA intron 3 Gly162_Pro206del Gly184_Pro228del
    4349delA g.5531delA c.551-2delA intron 3 Gly162_pro206del Gly184_Pro228del
    4351G>A g.5533G>A c.552G>A exon 4 Gly162Glu Gly184Glu
    4368A>T g. c.568A>T exon 4 Leu168Stop Leu190Stop
    4371A>G g.5553A>G c.571A>G exon 4 Thr169Pro Thr191Pro
    4371delA g.5553del c.571del exon 4 Frameshift Lys190fs
    4372insA g.5554_5555insA c.571_572insA exon 4 frameshift Thr191fs
    4373_4385del13bp g. c.573_585del13bp exon 4 Frameshift
    4378T>C g.5560T>C c.578T>C exon 4 Leu171Pro Leu193Pro
    4393_4394delCT g.5575_5576delCT c.593_594delCT exon 4 Frameshift Ser198fs
    4395delT g.5577del c.595del exon 4 Frameshift Ser198fs
    4395T>A g.5577T>A c.595T>A exon 4 Tyr177Asn Tyr199Asn
    4400delC g.5582delC c.610delC exon 4 frameshift Pro200fs
    4401A>T g. c.601A>T exon 4 Leu179Stop Leu201Stop
    4414G>A g.5596G>A c.614G>A exon 4 Cys183Tyr Cys205Tyr
    4428delC g.5610del c.628del exon 4 Frameshift Ala209fs
    4453T>A g.5635T>A c.653T>A exon 4 Val196Asp Val218Asp
    4460_4461insA g.5642_5643insA c.660_661insA exon 4 Frameshift Ser220fs
    4467C>T g.5649C>T c.667C>T exon 4 Gln201Stop Gln223Stop
    4471T>G g.5653T>G c.671T>G exon 4 Ile202Ser Ile224Ser
    4471T>A g. c.671T>A exon 4 Ile202Asn Ile224Asn
    4474T>C g. c.675T>C exon 4 Phe203Ser Phe225Ser
    4486G>A g. c.685+1G>A intron 4 Splicing defect
    8322C>G g.9504C>G c.686-3C>G intron 4 Asp207_Ser274del Asp229_Ser296del
    8329delGCCATAAinsTCCCTTAT g. c.690delGCCATAAinsTCCCTTAT exon 5 Frameshift
    8346T>C g.9528T>C c.717T>C exon 5 Phe214Ser Phe236Ser
    8370delACinsT g.9952AC>T c.731AC>T exon 5 frameshift Tyr244fs
    8377C>A g.9559C>A c.738C>A exon 5 Ser224Arg Ser246Arg
    8382C>G g.9564C>G c.743C>G exon 5 Pro226Arg Pro248Arg
    8383delC g.9565delC c.744delC exon 5 frameshift Pro248fs
    8390delC g.9572delC c.751delC exon 5 frameshift Val250fs
    8403G>C g. c.764G>C exon 5 Ser233Thr Ser255Thr
    8412A>T g. c.773A>T exon 5 Asn236Ile Asn258Ile
    8429_8452del24bp g. c.790_813del24bp exon 5
    8448_8449insAACAC g.9630_9631insAACAC c.809_810insAACAC exon 5 Frameshift Thr270fs
    8452_8457delCAACAA g.9634_9639delCAACAA c.813_818delCAACAA exon 5 Asn249_Asn250del Asn271_Asn272del
    8455delCAA g.9635_9637del c.813_815del exon 5 delAsn250 delAsn272
    8456_8458delAAG g.9638_9640del c.817_819del exon 5 Lys251del Lys273del
    8457_8459delAGA g.9639_9641del c.818_820del exon 5 Lys251del Lys273fs
    8459A>G g.9641A>G c.820A>G exon 5 Ile252Val Ile274Val
    8493_8494delCC g.9675_9676del c.854_855del exon 5 Frameshift Thr285fs
    8502_03TC>AA g.9684_05TC>AA c.863_64TC>AA exon 5 Val266Glu Val288Glu
    8503_8523del21insG g. c.864_884del21insG exon 5 Frameshift
    8507_8509delCTC g. c.868_870delCTC exon 5
    8510A>C g. c.871A>C exon 5 Asn269His Asn291His
    8517_8520delTCTA g.9699_9702delTCTA c.878-881delTCTA exon 5 Frameshift stop 272 Ile271fs
    8517T>C g.9899T>C c.878T>C exon 5 Ile271Thr Ile293Thr
    8521C>G g.9703C>G c.882C>G exon 5 Asp207_Ser274del Asp229_Ser296del
    8523T>G g.9705T>G c.884T>G exon 5 Asp207_Ser274del, Leu273Arg Asp229_Ser296del, Leu295Arg
    8529G>T g. c.889+1G>T intron 5 Splicing defect
    8530T>C g.9712T>C c.889+2T>C intron 5 Asp207_Ser274del Asp229_Ser296del
    8721A>G g.9903A>G c.890-2A>G intron 5 Splicing defect -
    8722G>A g.9904G>A c.890-1G>A intron 5 Splicing defect -
    8730G>A g. c.897G>A exon 6 Trp277Stop Trp299Stop
    8735C>A g.9917C>A c.902C>A exon 6 Thr279Lys Thr301Lys
    8735C>T g.9917C>T c.902C>T exon 6 Thr279Ile Thr301Ile
    8737delACA g.9919_9921del c.904_906del exon 6 Thr280del Thr302del
    8741T>G g.9923T>G c.880T>G exon 6 Phe281Cys Phe303Cys
    8741T>C g. c.908T>C exon 6 Phe281Ser Phe303Ser
    8755A>G g.9937A>G c.922A>G exon 6 Thr286Ala Thr308Ala
    8770T>C g.9952T>C c.937T>C exon 6 Phe291Leu Phe313Leu
    8779_8784del6bp g.9961_9966del c.946_951del exon 6 LysAsn294_295del LysAsn316_317del
    8783delA g. c.950delA exon 6 Frameshift
    8796_8797delAGinsT g. c.963_964delAGinsT exon 6 Frameshift
    8797delG g. c.964delG exon 6 Frameshift
    8807T>C g.9989T>C c.974T>C exon 6 Met303Thr Met325Thr
    8814delCA g.9996_9997del c.981_982del exon 6 frameshift Ser327fs
    8823C>G g.10005C>G c.988C>G exon 6 Tyr308Stop Tyr330Stop
    8857G>C g. c.1024G>C exon 6 Ala320Pro Ala342Pro
    8863G>T g.10045G>T c.1029+1G>T intron 6 Splicing defect -
    8863G>A g. c.1029+1G>A intron 6 Splicing defect
    8865_8868delAAGT g. c.1029+3_1029+6delAAGT intron 6 Splicing defect
    14019del29bp g.15201_15229del c.1030-12_1046del exon 7 splicing defect -
    14029AGGT>GCA g.15211AGGT>GCA c.1030-2AGGT>GCA exon 7 splicing defect -
    14030G>C g.15212G>C c.1030-1G>C intron 6 splicing defect -
    14034G>A g.15216G>A c.1033G>A exon 7 Gly323Arg Gly345Arg
    14037C>T g.15219C>T c.1036C>T exon 7 Gln324Stop Gln366Stop
    14043C>T g. c.1042C>T exon 7 Gln326Stop Gln348Stop
    14056A>T g. c.1055A>T exon 7 Asn330Ile Asn352Ile
    14059T>C g. c.1058T>C exon 7 Leu331Pro Leu353Pro
    14070delA g.15252delA c.1069delA exon 7 frameshift Val356fs
    14079_14085del7bp g. c.1078_1084del7bp exon 7 Frameshift
    14082C>T g.15264C>T c.1081C>T exon 7 Gln339Stop Gln361Stop
    14098delG g. c.1097delG exon 7 Frameshift
    14103G>T g.15285G>T c.1102G>T exon 7 Glu346Stop Glu368Stop
    14107delA g.15289del c.1106del exon 7 Frameshift Asp369fs
    14137T>C g.15319T>C c.1136T>C exon 7 Phe357Ser Phe379Ser
    14166T>C g. c.1165T>C exon 7 Ser367Pro Ser389Pro
    14181A>T g.15363A>T c.1180A>T exon 7 Thr372Pro Thr394Pro
    14185_14186insTA g.15367_15368insTA c.1184_1185insTA exon 7 Frameshift Leu396fs
    14185delT g. c.1184delT exon 7 Frameshift
    14188T>C g. c.1187T>C exon 7 Leu374Pro Leu396Pro
    14190_91insA g. c.1189_90insA exon 7 Frameshift
    14194T>C g. c.1193T>C exon 7 Leu376Pro Leu398Pro
    14194T>A g. c.1193T>A exon 7 Leu376Gln Leu398Gln
    14196C>G g.15378C>G c.1195C>G exon 7 Pro377Ala Pro399Ala
    14196C>T g.15378C>T c.1195C>T exon 7 Pro377Ser Pro399Ser
    14197C>T g.15379C>T c.1196C>T exon 7 Pro377Leu Pro399Leu
    14197C>G g.15379C>G c.1196C>G exon 7 Pro377Arg Pro399Arg
    14199C>T g. c.1198C>T exon 7 Arg378Cys Arg400Cys
    14206A>T g.15388A>T c.1205A>T exon 7 Lys380Ile Lys402Ile
    14213_14216delGACC g. c.1212_1215delGACC exon 7 Frameshift
    14217delA g. c.1216delA intron 7 Frameshift
    14221delA g. c.1220delA exon 7 Frameshift
    14224A>T g.16106A>T c.1223A>T exon 7 Asp386Val Asp408Val
    14227T>C g.15409T>C c.1226T>C exon 7 Met387Thr Met409Thr
    14227T>G g. c.1226T>G exon 7 Met387Arg Met409Arg
    14230T>C g. c.1229T>C exon 7 Leu388Pro Leu410Pro
    14233C>A g.15415C>A c.1232C>A exon 7 Ser389Stop Ser411Stop
    14246delA g. c.1245delA other Frameshift
    14251G>A g. c.1249+1G>A intron 7 Splicing defect
    14252delT g.15434delT c.1249+2delT intron 7 Val322_Leu394>Asnfs Val344_Leu416>Asnfs
    14252T>A g.15434T>A c.1249+2T>A intron 7 Splicing defect -
    16629G>A g. c.1250-13G>A intron 7 Splicing defect
    16640A>G g. c.1250-2A>G intron 7 Splicing defect
    16655delT g.17837delT c.1263delT exon 8 Frameshift Phe421fs
    16657delC g.17839del c.1265del exon 8 Frameshift Ser422fs
    16661_16662insA g.17843_17844insA c.1269_1270insA exon 8 Frameshift Tyr423fs
    16674T>C g. c.1282T>C exon 8 Cys406Arg Cys428Arg
    16676_16677delTG g.17858_17859del c.1284_1285del exon 8 Frameshift Cys428fs
    16698delC g.17880del c.1306del exon 8 Frameshift Leu436fs
    16707delT g.17889delT c.1315delT exon 8 Ser417frameshift stop 427 Ser439fs
    16708delC g.17890delC c.1316delC exon 8 frameshift Ser439fs
    16712T>C g. c.1322T>C exon 8 Met419Thr Met441Thr
    16716C>T g. c.1324C>T exon 8 Gln420Stop Gln442Stop
    16720A>G g.17920A>G c.1328A>G exon 8 His421Arg His443Arg
    16734G>C g. c.1342G>C exon 8 Glu426Gln Glu448Gln
    16735delAACinsT g.17917delAACinsT c.1343delAACinsT exon 8 frameshift Glu478fs
    16742-16743insA g.17924_17928insA c.1350_1351insA exon 8 Glu429frameshift stop 450 Glu451fs
    16743G>A g.17925G>A c.1351G>A exon 8 Glu429Lys Glu451Lys
    16745_16746delGA g. c.1353_1354delGA exon 8 Frameshift
    16749_16775dup g.17931_17957dup c.1339_1365dup exon 8 Frameshift Ile462fs
    16749_16750insTGT g.17931_17932insTGT c.1357_1358insTGT exon 8 other Thr450_Glu451insCys
    16752_16785del34bp g.17934_17977del c.1360_1393del exon 8 Frameshift Gly453fs
    16753T>A g.17935T>A c.1361T>A exon 8 Val432Glu Val455Glu
    16758_16761delGCGGinsA g. c.1366_1396delGCGGinsA exon 8 in frame
    16759C>A g.17941C>A c.1367C>A exon 8 Ala434Glu Ala456Glu
    16764G>A g.17946G>A c.1372G>A exon 8 Ala436Thr Ala458Thr
    16765C>T g.17947C>T c.1373C>T exon 8 Ala436Val Ala458Val
    16770T>C g.17952T>C c.1378T>C exon 8 Ser438Pro Ser460Pro
    16771_16790dup20bp g.17953_17972dup c.1383_1402dup exon 8 Frameshift Ala461fs
    16772C>T g. c.1380C>T exon 8 Ser438Ser Ser460Ser
    16774C>T g.17956C>T c.1364C>T exon 8 Ala439Val Ala461Val
    16775-16776insC g.17957_17958insC c.1383_1384insC exon 8 Ile440frameshift stop 450 Ile462fs
    16777T>G g.17959T>G c.1385T>G exon 8 Ile440Ser Ile462Ser
    16786G>A g.17968G>A c.1394G>A exon 8 Ala443Val Ala465Val
    16788C>T g.17970C>T c.1396C>T exon 8 Arg444Cys Arg466Cys
    16788C>A g.17970C>A c.1396C>A exon 8 Arg444Ser Arg466Ser
    16788C>G g.17970C>G c.1396C>G exon 8 Arg444Gly Arg466Gly
    16788delC g.17970delC c.1396delC exon 8 Frameshift Arg466fs
    16789G>A g.17971G>A c.1397G>A exon 8 Arg444His Arg466His
    16789G>C g.17971G>C c.1397G>C exon 8 Arg444Pro Arg466Pro
    16789G>T g.17971G>T c.1397G>T exon 8 Arg444Leu Arg466Leu
    16791A>C g.17973A>C c.1399A>C exon 8 Thr445Pro Thr467Pro
    16794delC g. c.1402delC exon 8 Frameshift
    16799_16819del21bp g. c.1407_1427del21bp exon 8
    16809G>A g.17991G>A c.1417G>A exon 8 Val451Met Val473Met
    16810T>A g.17992T>A c.1418T>A exon 8 Val451Glu Val473Glu
    16810T>G g.17992T>G c.1418T>G exon 8 Val451Gly Val473Gly
    16812C>G g.17994C>G c.1420C>G exon 8 Gln452Glu Gln474Glu
    16812_16813insC g. c.1420_1421insC exon 8 Frameshift
    16813C>T g. c.1427C>T other Pro454Leu Pro476Leu
    16822T>C g.18004T>C c.1430T>C exon 8 Phe455Ser Phe477Ser
    16824delC g. c.1432delC exon 8 Frameshift
    16827T>C g.18009T>C c.1435T>C exon 8 Phe457Leu Phe479Leu
    16830G>A g.18012G>A c.1438G>A exon 8 Val458Met Val480Met
    16831T>G g. c.1439T>G exon 8 Val458Gly Val480Gly
    16834T>G g.18016T>G c.1442T>G exon 8 Leu459Arg Leu481Arg
    16834T>C g.18016T>C c.1442T>C exon 8 Leu459Pro Leu481Pro
    16838G>A g.18020G>T c.1446G>T exon 8 Trp460Stop Trp482Stop
    16842C>T g.18024C>T c.1450C>T exon 8 Gln462Stop Gln484Stop
    16858C>G g.18040C>G c.1466C>G exon 8 Pro467Arg Pro489Arg
    16861T>A g.18043T>A c.1469T>A exon 8 Val468Asp Val490Asp
    16867T>A g.18049T>A c.1475T>A exon 8 Met470Lys Met492Lys
    16869G>A g.18051G>A c.1477G>A exon 8 Gly471Arg Gly493Arg
    16870G>A g.18052G>A c.1478G>A exon 8 Gly471Glu Gly493Glu
    16872C>T g.18054C>T c.1480C>T exon 8 Arg472Stop Arg492Stop
    16880T>G g.18062T>G c.1488T>G exon 8 Tyr474Stop Tyr496Ter
    16884C>T g.18066C>T c.1493C>T exon 8 Pro476Ser Pro498Ser
    16885C>T g. c.1493C>T exon 8 Pro476Leu Pro498Leu
    16885C>G g.18067C>G c.1493T>A exon 8 Pro476Arg Pro498Arg
    16893T>A g.18075T>A c.1501G>A exon 8 Stop479Arg Stop501Arg