ClinVar Miner

List of variants in gene TTN reported as uncertain significance for Myopathy, myofibrillar, 9, with early respiratory failure

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Gene type:
ClinVar version:
Total variants: 506
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=) rs371802557 0.00134
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958 0.00116
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_001267550.2(TTN):c.29042-2A>C rs6716782 0.00060
NM_001267550.2(TTN):c.39044-9T>A rs184888200 0.00042
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027 0.00041
NM_001267550.2(TTN):c.*623G>A rs778009328 0.00036
NM_001267550.2(TTN):c.*968T>C rs772669140 0.00029
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00029
NM_001267550.2(TTN):c.*141T>G rs781617834 0.00024
NM_001267550.2(TTN):c.31645A>G (p.Ile10549Val) rs376613199 0.00021
NM_001267550.2(TTN):c.40543G>A (p.Val13515Ile) rs727504200 0.00017
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys) rs55734111 0.00017
NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln) rs727504191 0.00017
NM_001267550.2(TTN):c.687T>C (p.Phe229=) rs376527094 0.00017
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00016
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) rs186234393 0.00015
NM_001267550.2(TTN):c.32971G>A (p.Glu10991Lys) rs201081803 0.00014
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu) rs199778910 0.00013
NM_001267550.2(TTN):c.23675T>C (p.Ile7892Thr) rs201181445 0.00013
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser) rs72648240 0.00013
NM_001267550.2(TTN):c.34379-15A>G rs764544769 0.00011
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu) rs397517662 0.00010
NM_001267550.2(TTN):c.16060G>C (p.Asp5354His) rs745578038 0.00009
NM_001267550.2(TTN):c.31208-13G>A rs377135196 0.00009
NM_001267550.2(TTN):c.47133A>G (p.Ala15711=) rs573218266 0.00009
NM_001267550.2(TTN):c.50774T>C (p.Val16925Ala) rs370067597 0.00009
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly) rs150725992 0.00009
NM_001267550.2(TTN):c.65574T>C (p.Asn21858=) rs374858668 0.00009
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu) rs377412567 0.00009
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile) rs200782068 0.00008
NM_001267550.2(TTN):c.1743G>A (p.Pro581=) rs138560523 0.00008
NM_001267550.2(TTN):c.26221A>G (p.Lys8741Glu) rs538959125 0.00008
NM_001267550.2(TTN):c.57559G>A (p.Val19187Ile) rs764203267 0.00008
NM_001267550.2(TTN):c.65416C>T (p.Arg21806Trp) rs778703530 0.00008
NM_001267550.2(TTN):c.71944A>G (p.Asn23982Asp) rs199755820 0.00008
NM_001267550.2(TTN):c.85334G>A (p.Cys28445Tyr) rs773226749 0.00008
NM_001267550.2(TTN):c.32035G>A (p.Val10679Ile) rs369932282 0.00007
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=) rs375398118 0.00007
NM_001267550.2(TTN):c.88954G>A (p.Val29652Ile) rs756561910 0.00007
NM_001267550.2(TTN):c.-118G>A rs886055310 0.00006
NM_001267550.2(TTN):c.106267G>T (p.Val35423Phe) rs763752622 0.00006
NM_001267550.2(TTN):c.26506C>T (p.Pro8836Ser) rs776799144 0.00006
NM_001267550.2(TTN):c.27015T>C (p.Gly9005=) rs727503643 0.00006
NM_001267550.2(TTN):c.29577A>G (p.Gln9859=) rs368780181 0.00006
NM_001267550.2(TTN):c.44273G>A (p.Arg14758Gln) rs770389312 0.00006
NM_001267550.2(TTN):c.73491T>C (p.Tyr24497=) rs545377175 0.00006
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906 0.00006
NM_001267550.2(TTN):c.77749T>C (p.Tyr25917His) rs370137092 0.00006
NM_001267550.2(TTN):c.83600C>G (p.Pro27867Arg) rs374119634 0.00006
NM_001267550.2(TTN):c.851C>T (p.Ser284Leu) rs775566677 0.00006
NM_001267550.2(TTN):c.94774G>A (p.Val31592Ile) rs370918800 0.00006
NM_001267550.2(TTN):c.15253G>A (p.Asp5085Asn) rs374299783 0.00005
NM_001267550.2(TTN):c.15453T>C (p.Asn5151=) rs201343844 0.00005
NM_001267550.2(TTN):c.34538-12A>G rs376626305 0.00005
NM_001267550.2(TTN):c.46884G>A (p.Lys15628=) rs760251812 0.00005
NM_001267550.2(TTN):c.51359G>A (p.Arg17120His) rs778885931 0.00005
NM_001267550.2(TTN):c.56535G>A (p.Thr18845=) rs529480368 0.00005
NM_001267550.2(TTN):c.56871C>T (p.Ser18957=) rs370619063 0.00005
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr) rs527704660 0.00005
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys) rs201614524 0.00005
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr) rs376037252 0.00005
NM_001267550.2(TTN):c.9509T>C (p.Val3170Ala) rs779339626 0.00005
NM_001267550.2(TTN):c.*197C>G rs886055216 0.00004
NM_001267550.2(TTN):c.*898A>C rs998874416 0.00004
NM_001267550.2(TTN):c.14213G>A (p.Arg4738Gln) rs553541436 0.00004
NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr) rs34337578 0.00004
NM_001267550.2(TTN):c.19377G>A (p.Val6459=) rs371652207 0.00004
NM_001267550.2(TTN):c.21844G>A (p.Glu7282Lys) rs778532757 0.00004
NM_001267550.2(TTN):c.28104A>G (p.Ala9368=) rs886055291 0.00004
NM_001267550.2(TTN):c.29015C>T (p.Thr9672Ile) rs769996978 0.00004
NM_001267550.2(TTN):c.30941T>C (p.Ile10314Thr) rs886055288 0.00004
NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys) rs772195716 0.00004
NM_001267550.2(TTN):c.32591A>G (p.Lys10864Arg) rs767155246 0.00004
NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val) rs755562550 0.00004
NM_001267550.2(TTN):c.39235G>A (p.Val13079Ile) rs777119867 0.00004
NM_001267550.2(TTN):c.42434T>C (p.Met14145Thr) rs794729427 0.00004
NM_001267550.2(TTN):c.47278G>A (p.Gly15760Ser) rs372404266 0.00004
NM_001267550.2(TTN):c.47698G>A (p.Glu15900Lys) rs772625773 0.00004
NM_001267550.2(TTN):c.56761C>T (p.Leu18921=) rs769824680 0.00004
NM_001267550.2(TTN):c.56872G>A (p.Asp18958Asn) rs576158850 0.00004
NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile) rs368716894 0.00004
NM_001267550.2(TTN):c.65590G>C (p.Asp21864His) rs375149365 0.00004
NM_001267550.2(TTN):c.84385G>T (p.Val28129Phe) rs752974639 0.00004
NM_001267550.2(TTN):c.86420G>A (p.Arg28807His) rs375800916 0.00004
NM_001267550.2(TTN):c.89230G>A (p.Ala29744Thr) rs201592005 0.00004
NM_001267550.2(TTN):c.89309T>C (p.Val29770Ala) rs755018367 0.00004
NM_001267550.2(TTN):c.9167G>A (p.Arg3056His) rs547301978 0.00004
NM_001267550.2(TTN):c.92222C>T (p.Ala30741Val) rs202090888 0.00004
NM_001267550.2(TTN):c.*636T>G rs886055214 0.00003
NM_001267550.2(TTN):c.104570T>C (p.Leu34857Pro) rs368765896 0.00003
NM_001267550.2(TTN):c.106996C>G (p.Gln35666Glu) rs750660824 0.00003
NM_001267550.2(TTN):c.16160G>C (p.Arg5387Thr) rs748155563 0.00003
NM_001267550.2(TTN):c.19118A>G (p.Glu6373Gly) rs367868361 0.00003
NM_001267550.2(TTN):c.2138G>A (p.Arg713Gln) rs761383124 0.00003
NM_001267550.2(TTN):c.22531C>T (p.Pro7511Ser) rs727505333 0.00003
NM_001267550.2(TTN):c.2370+9A>G rs373443384 0.00003
NM_001267550.2(TTN):c.26551T>G (p.Cys8851Gly) rs558169834 0.00003
NM_001267550.2(TTN):c.30137C>T (p.Thr10046Ile) rs535268419 0.00003
NM_001267550.2(TTN):c.32555-12G>T rs397517540 0.00003
NM_001267550.2(TTN):c.43316G>A (p.Arg14439His) rs764117439 0.00003
NM_001267550.2(TTN):c.47570T>C (p.Ile15857Thr) rs886055272 0.00003
NM_001267550.2(TTN):c.5644C>T (p.Arg1882Cys) rs397517658 0.00003
NM_001267550.2(TTN):c.583+4C>T rs764670848 0.00003
NM_001267550.2(TTN):c.617C>A (p.Thr206Lys) rs768427369 0.00003
NM_001267550.2(TTN):c.64047C>T (p.Gly21349=) rs775357802 0.00003
NM_001267550.2(TTN):c.64916G>A (p.Arg21639Gln) rs373282633 0.00003
NM_001267550.2(TTN):c.68390C>T (p.Pro22797Leu) rs1371471381 0.00003
NM_001267550.2(TTN):c.72232A>G (p.Ile24078Val) rs876658080 0.00003
NM_001267550.2(TTN):c.72C>G (p.Thr24=) rs876657615 0.00003
NM_001267550.2(TTN):c.73304G>A (p.Arg24435His) rs794727456 0.00003
NM_001267550.2(TTN):c.76674T>C (p.Asp25558=) rs375553630 0.00003
NM_001267550.2(TTN):c.93940G>A (p.Gly31314Ser) rs368608059 0.00003
NM_001267550.2(TTN):c.95336T>C (p.Ile31779Thr) rs1460359915 0.00003
NM_001267550.2(TTN):c.98954C>A (p.Pro32985His) rs1387380794 0.00003
NM_001267550.2(TTN):c.*919G>C rs752604042 0.00002
NM_001267550.2(TTN):c.10000G>A (p.Val3334Met) rs886055299 0.00002
NM_001267550.2(TTN):c.10024G>A (p.Val3342Ile) rs727503679 0.00002
NM_001267550.2(TTN):c.10164G>T (p.Arg3388=) rs542799064 0.00002
NM_001267550.2(TTN):c.14536G>A (p.Ala4846Thr) rs752150323 0.00002
NM_001267550.2(TTN):c.15775+15A>C rs776801864 0.00002
NM_001267550.2(TTN):c.20680G>C (p.Val6894Leu) rs774362265 0.00002
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540 0.00002
NM_001267550.2(TTN):c.23391C>T (p.Phe7797=) rs754815317 0.00002
NM_001267550.2(TTN):c.26744C>G (p.Ala8915Gly) rs536974988 0.00002
NM_001267550.2(TTN):c.3380+12G>T rs775071824 0.00002
NM_001267550.2(TTN):c.34721T>C (p.Ile11574Thr) rs368157806 0.00002
NM_001267550.2(TTN):c.52142T>C (p.Ile17381Thr) rs775637498 0.00002
NM_001267550.2(TTN):c.53881+3G>A rs1160974431 0.00002
NM_001267550.2(TTN):c.5503C>A (p.Gln1835Lys) rs537070177 0.00002
NM_001267550.2(TTN):c.58992T>A (p.Asp19664Glu) rs769129424 0.00002
NM_001267550.2(TTN):c.60242A>G (p.Asp20081Gly) rs369680191 0.00002
NM_001267550.2(TTN):c.64111A>G (p.Arg21371Gly) rs748901968 0.00002
NM_001267550.2(TTN):c.64687C>G (p.Pro21563Ala) rs72646860 0.00002
NM_001267550.2(TTN):c.6491C>T (p.Ala2164Val) rs1338410239 0.00002
NM_001267550.2(TTN):c.67318G>A (p.Gly22440Ser) rs727503576 0.00002
NM_001267550.2(TTN):c.732C>T (p.Ala244=) rs761859812 0.00002
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) rs573415766 0.00002
NM_001267550.2(TTN):c.75977A>G (p.Glu25326Gly) rs767430531 0.00002
NM_001267550.2(TTN):c.78662C>T (p.Pro26221Leu) rs912454417 0.00002
NM_001267550.2(TTN):c.79103G>T (p.Gly26368Val) rs371325635 0.00002
NM_001267550.2(TTN):c.84405T>C (p.Tyr28135=) rs756176112 0.00002
NM_001267550.2(TTN):c.92454C>T (p.Pro30818=) rs771773845 0.00002
NM_001267550.2(TTN):c.99415A>G (p.Lys33139Glu) rs779723670 0.00002
NM_001267550.2(TTN):c.*183A>G rs534998626 0.00001
NM_001267550.2(TTN):c.*504G>A rs957184446 0.00001
NM_001267550.2(TTN):c.*633C>T rs1242028803 0.00001
NM_001267550.2(TTN):c.-217G>A rs886055311 0.00001
NM_001267550.2(TTN):c.101875G>A (p.Glu33959Lys) rs886055224 0.00001
NM_001267550.2(TTN):c.103178C>T (p.Thr34393Ile) rs372299779 0.00001
NM_001267550.2(TTN):c.104328A>C (p.Pro34776=) rs1575245592 0.00001
NM_001267550.2(TTN):c.104564C>A (p.Ser34855Tyr) rs886055222 0.00001
NM_001267550.2(TTN):c.1446C>T (p.Ala482=) rs183258737 0.00001
NM_001267550.2(TTN):c.15499C>A (p.Pro5167Thr) rs1031284707 0.00001
NM_001267550.2(TTN):c.15797G>A (p.Arg5266Gln) rs749816144 0.00001
NM_001267550.2(TTN):c.16096G>A (p.Val5366Met) rs372176136 0.00001
NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile) rs535319438 0.00001
NM_001267550.2(TTN):c.16743T>C (p.Asp5581=) rs754798297 0.00001
NM_001267550.2(TTN):c.19447T>C (p.Phe6483Leu) rs373750655 0.00001
NM_001267550.2(TTN):c.19497T>C (p.His6499=) rs1223390157 0.00001
NM_001267550.2(TTN):c.20317C>T (p.Leu6773Phe) rs189557659 0.00001
NM_001267550.2(TTN):c.21956C>T (p.Thr7319Ile) rs876658043 0.00001
NM_001267550.2(TTN):c.21981G>T (p.Thr7327=) rs775230627 0.00001
NM_001267550.2(TTN):c.22240+14A>G rs1288832655 0.00001
NM_001267550.2(TTN):c.22673G>T (p.Gly7558Val) rs886055294 0.00001
NM_001267550.2(TTN):c.23669G>T (p.Arg7890Ile) rs370939248 0.00001
NM_001267550.2(TTN):c.23725G>C (p.Glu7909Gln) rs1161435142 0.00001
NM_001267550.2(TTN):c.24613A>G (p.Ile8205Val) rs747306219 0.00001
NM_001267550.2(TTN):c.2494-5T>C rs370759512 0.00001
NM_001267550.2(TTN):c.25640-4A>G rs886055292 0.00001
NM_001267550.2(TTN):c.26200+5G>A rs727503645 0.00001
NM_001267550.2(TTN):c.27747G>A (p.Thr9249=) rs778970711 0.00001
NM_001267550.2(TTN):c.27994G>A (p.Val9332Met) rs367734747 0.00001
NM_001267550.2(TTN):c.28877C>A (p.Ala9626Asp) rs397517530 0.00001
NM_001267550.2(TTN):c.31010A>G (p.Tyr10337Cys) rs886055287 0.00001
NM_001267550.2(TTN):c.31274T>C (p.Ile10425Thr) rs1198546466 0.00001
NM_001267550.2(TTN):c.31710G>C (p.Glu10570Asp) rs1338646609 0.00001
NM_001267550.2(TTN):c.31764C>T (p.Val10588=) rs766441395 0.00001
NM_001267550.2(TTN):c.31865G>A (p.Gly10622Glu) rs2071793480 0.00001
NM_001267550.2(TTN):c.32011+15T>G rs886055285 0.00001
NM_001267550.2(TTN):c.32858C>T (p.Ala10953Val) rs773225325 0.00001
NM_001267550.2(TTN):c.32881A>G (p.Ile10961Val) rs886055284 0.00001
NM_001267550.2(TTN):c.33248-8C>G rs766957102 0.00001
NM_001267550.2(TTN):c.33601C>A (p.Pro11201Thr) rs769195017 0.00001
NM_001267550.2(TTN):c.34062A>G (p.Glu11354=) rs886055281 0.00001
NM_001267550.2(TTN):c.34247A>T (p.Glu11416Val) rs886055280 0.00001
NM_001267550.2(TTN):c.3729+4A>G rs1170576212 0.00001
NM_001267550.2(TTN):c.39465G>A (p.Val13155=) rs886055279 0.00001
NM_001267550.2(TTN):c.39709+7G>A rs750763722 0.00001
NM_001267550.2(TTN):c.39766A>G (p.Lys13256Glu) rs762177160 0.00001
NM_001267550.2(TTN):c.39835A>G (p.Lys13279Glu) rs2062656094 0.00001
NM_001267550.2(TTN):c.40408+7_40408+10dup rs397517560 0.00001
NM_001267550.2(TTN):c.40701G>A (p.Arg13567=) rs750761966 0.00001
NM_001267550.2(TTN):c.40837G>A (p.Ala13613Thr) rs750346508 0.00001
NM_001267550.2(TTN):c.42256T>A (p.Ser14086Thr) rs777451130 0.00001
NM_001267550.2(TTN):c.43100T>C (p.Ile14367Thr) rs397517572 0.00001
NM_001267550.2(TTN):c.44096C>G (p.Ser14699Cys) rs1293270234 0.00001
NM_001267550.2(TTN):c.44285G>A (p.Arg14762Gln) rs727505019 0.00001
NM_001267550.2(TTN):c.44419G>A (p.Asp14807Asn) rs753053245 0.00001
NM_001267550.2(TTN):c.45653G>A (p.Arg15218Gln) rs548035065 0.00001
NM_001267550.2(TTN):c.45893A>G (p.Glu15298Gly) rs886055274 0.00001
NM_001267550.2(TTN):c.48054C>T (p.Ala16018=) rs779940754 0.00001
NM_001267550.2(TTN):c.4995G>A (p.Gly1665=) rs755324231 0.00001
NM_001267550.2(TTN):c.50538T>C (p.Ile16846=) rs763711863 0.00001
NM_001267550.2(TTN):c.51823C>T (p.Pro17275Ser) rs752852690 0.00001
NM_001267550.2(TTN):c.52032T>C (p.His17344=) rs374254751 0.00001
NM_001267550.2(TTN):c.53708G>A (p.Arg17903His) rs755252821 0.00001
NM_001267550.2(TTN):c.55432+5G>C rs754717390 0.00001
NM_001267550.2(TTN):c.55880A>C (p.Lys18627Thr) rs727503597 0.00001
NM_001267550.2(TTN):c.56362C>T (p.Pro18788Ser) rs1363268909 0.00001
NM_001267550.2(TTN):c.56433T>C (p.Asp18811=) rs771353550 0.00001
NM_001267550.2(TTN):c.58371C>T (p.Tyr19457=) rs749167827 0.00001
NM_001267550.2(TTN):c.5851G>A (p.Val1951Ile) rs765382880 0.00001
NM_001267550.2(TTN):c.60302T>C (p.Ile20101Thr) rs777610858 0.00001
NM_001267550.2(TTN):c.61048C>T (p.Leu20350Phe) rs1162158537 0.00001
NM_001267550.2(TTN):c.61488T>G (p.Ile20496Met) rs886042497 0.00001
NM_001267550.2(TTN):c.62306C>A (p.Pro20769Gln) rs772498581 0.00001
NM_001267550.2(TTN):c.63941C>T (p.Ser21314Leu) rs776468606 0.00001
NM_001267550.2(TTN):c.64493G>A (p.Cys21498Tyr) rs752724337 0.00001
NM_001267550.2(TTN):c.64973-12C>G rs918265990 0.00001
NM_001267550.2(TTN):c.65022C>T (p.Asp21674=) rs866763453 0.00001
NM_001267550.2(TTN):c.65168G>A (p.Gly21723Asp) rs371802736 0.00001
NM_001267550.2(TTN):c.67063C>T (p.Pro22355Ser) rs794729481 0.00001
NM_001267550.2(TTN):c.69458A>C (p.Lys23153Thr) rs879119970 0.00001
NM_001267550.2(TTN):c.70784T>C (p.Leu23595Pro) rs886055249 0.00001
NM_001267550.2(TTN):c.71553T>A (p.Leu23851=) rs373388052 0.00001
NM_001267550.2(TTN):c.72487C>T (p.Arg24163Cys) rs778284888 0.00001
NM_001267550.2(TTN):c.73024A>G (p.Ile24342Val) rs1051443527 0.00001
NM_001267550.2(TTN):c.73124C>T (p.Pro24375Leu) rs376041680 0.00001
NM_001267550.2(TTN):c.74339G>A (p.Arg24780Gln) rs776673912 0.00001
NM_001267550.2(TTN):c.75053T>C (p.Val25018Ala) rs745832906 0.00001
NM_001267550.2(TTN):c.75366G>A (p.Val25122=) rs750424357 0.00001
NM_001267550.2(TTN):c.75378T>A (p.Gly25126=) rs886055246 0.00001
NM_001267550.2(TTN):c.75983C>T (p.Pro25328Leu) rs758581188 0.00001
NM_001267550.2(TTN):c.77561C>T (p.Thr25854Ile) rs886055245 0.00001
NM_001267550.2(TTN):c.77639C>T (p.Thr25880Ile) rs1332594097 0.00001
NM_001267550.2(TTN):c.7781T>C (p.Met2594Thr) rs764016233 0.00001
NM_001267550.2(TTN):c.78382C>T (p.Arg26128Cys) rs373530641 0.00001
NM_001267550.2(TTN):c.78654T>C (p.His26218=) rs886055244 0.00001
NM_001267550.2(TTN):c.79885G>C (p.Glu26629Gln) rs727504673 0.00001
NM_001267550.2(TTN):c.80145C>G (p.Val26715=) rs761074887 0.00001
NM_001267550.2(TTN):c.80185G>C (p.Ala26729Pro) rs1252013447 0.00001
NM_001267550.2(TTN):c.80399T>C (p.Met26800Thr) rs761384994 0.00001
NM_001267550.2(TTN):c.82021C>T (p.Arg27341Trp) rs746488250 0.00001
NM_001267550.2(TTN):c.82133A>C (p.Lys27378Thr) rs886055240 0.00001
NM_001267550.2(TTN):c.82408C>A (p.Pro27470Thr) rs886055239 0.00001
NM_001267550.2(TTN):c.82964G>A (p.Gly27655Asp) rs373745130 0.00001
NM_001267550.2(TTN):c.83827G>A (p.Gly27943Arg) rs886055236 0.00001
NM_001267550.2(TTN):c.83979T>C (p.Thr27993=) rs755164013 0.00001
NM_001267550.2(TTN):c.85003T>G (p.Ser28335Ala) rs147895770 0.00001
NM_001267550.2(TTN):c.85383T>C (p.Asn28461=) rs886055235 0.00001
NM_001267550.2(TTN):c.86259A>G (p.Leu28753=) rs886055233 0.00001
NM_001267550.2(TTN):c.88009+5G>A rs148231754 0.00001
NM_001267550.2(TTN):c.88992T>C (p.Asp29664=) rs201658018 0.00001
NM_001267550.2(TTN):c.90161C>T (p.Pro30054Leu) rs767891763 0.00001
NM_001267550.2(TTN):c.91813T>A (p.Ser30605Thr) rs984360776 0.00001
NM_001267550.2(TTN):c.93288T>C (p.Tyr31096=) rs1280272876 0.00001
NM_001267550.2(TTN):c.93576T>C (p.Ala31192=) rs377521708 0.00001
NM_001267550.2(TTN):c.94599T>C (p.Asp31533=) rs764363274 0.00001
NM_001267550.2(TTN):c.94652T>C (p.Val31551Ala) rs369870689 0.00001
NM_001267550.2(TTN):c.95468A>G (p.His31823Arg) rs794729539 0.00001
NM_001267550.2(TTN):c.97112T>G (p.Ile32371Ser) rs748682168 0.00001
NM_001267550.2(TTN):c.97319G>A (p.Arg32440His) rs750047570 0.00001
NM_001267550.2(TTN):c.98169A>C (p.Arg32723Ser) rs753058072 0.00001
NM_001267550.2(TTN):c.98803G>A (p.Glu32935Lys) rs1407053984 0.00001
NM_001267550.2(TTN):c.99154C>T (p.Arg33052Cys) rs758109676 0.00001
NM_001267550.2(TTN):c.*274G>A rs886055215
NM_001267550.2(TTN):c.*913C>A rs886055213
NM_001267550.2(TTN):c.-225G>A rs886055312
NM_001267550.2(TTN):c.-38T>G rs886055309
NM_001267550.2(TTN):c.-76A>G rs1575064539
NM_001267550.2(TTN):c.100766-10del rs749872538
NM_001267550.2(TTN):c.101038A>G (p.Lys33680Glu) rs886055226
NM_001267550.2(TTN):c.101068C>A (p.Pro33690Thr) rs886055225
NM_001267550.2(TTN):c.10115-6T>C rs886055298
NM_001267550.2(TTN):c.10255A>G (p.Ser3419Gly) rs1266502582
NM_001267550.2(TTN):c.102705T>C (p.Tyr34235=) rs1690297479
NM_001267550.2(TTN):c.103924_103926del (p.Pro34642del) rs771366227
NM_001267550.2(TTN):c.104072T>C (p.Phe34691Ser) rs886055223
NM_001267550.2(TTN):c.104936G>A (p.Gly34979Asp) rs376634193
NM_001267550.2(TTN):c.105257T>A (p.Met35086Lys) rs886055221
NM_001267550.2(TTN):c.105326T>C (p.Leu35109Ser) rs1689008949
NM_001267550.2(TTN):c.106723G>A (p.Glu35575Lys) rs886055217
NM_001267550.2(TTN):c.106801G>A (p.Glu35601Lys) rs1558972236
NM_001267550.2(TTN):c.106957T>G (p.Tyr35653Asp) rs886042500
NM_001267550.2(TTN):c.107181C>G (p.Gly35727=) rs762859509
NM_001267550.2(TTN):c.107348G>T (p.Cys35783Phe) rs1473450556
NM_001267550.2(TTN):c.11008A>C (p.Thr3670Pro) rs794729589
NM_001267550.2(TTN):c.1224T>C (p.Ala408=) rs2093688642
NM_001267550.2(TTN):c.1301A>T (p.Asp434Val) rs1478114976
NM_001267550.2(TTN):c.14153A>G (p.Lys4718Arg) rs753558755
NM_001267550.2(TTN):c.14392C>T (p.Leu4798Phe) rs2081388048
NM_001267550.2(TTN):c.14860G>C (p.Asp4954His) rs1443901302
NM_001267550.2(TTN):c.15497-4C>G rs2080975329
NM_001267550.2(TTN):c.15942T>C (p.Asn5314=) rs1311178060
NM_001267550.2(TTN):c.16563A>C (p.Thr5521=) rs886055297
NM_001267550.2(TTN):c.16776G>A (p.Met5592Ile) rs879188937
NM_001267550.2(TTN):c.1683A>G (p.Ile561Met) rs1321890564
NM_001267550.2(TTN):c.1688C>T (p.Ala563Val) rs2093449486
NM_001267550.2(TTN):c.1696A>G (p.Met566Val) rs987302368
NM_001267550.2(TTN):c.1923A>C (p.Gln641His) rs886055308
NM_001267550.2(TTN):c.19370T>C (p.Phe6457Ser) rs2079785463
NM_001267550.2(TTN):c.20326G>A (p.Ala6776Thr) rs886055295
NM_001267550.2(TTN):c.20772G>T (p.Lys6924Asn) rs369993514
NM_001267550.2(TTN):c.21506A>C (p.Asn7169Thr) rs786205314
NM_001267550.2(TTN):c.22528+12C>T rs756012779
NM_001267550.2(TTN):c.22659G>A (p.Lys7553=) rs2078449618
NM_001267550.2(TTN):c.22696G>A (p.Val7566Met) rs2078438102
NM_001267550.2(TTN):c.23147G>T (p.Gly7716Val) rs751284978
NM_001267550.2(TTN):c.23601A>G (p.Ile7867Met) rs1334032406
NM_001267550.2(TTN):c.23654T>C (p.Val7885Ala) rs2078098721
NM_001267550.2(TTN):c.24528A>G (p.Arg8176=) rs1162009739
NM_001267550.2(TTN):c.24891G>C (p.Trp8297Cys) rs727504205
NM_001267550.2(TTN):c.25196T>C (p.Leu8399Pro) rs2077698375
NM_001267550.2(TTN):c.2522C>A (p.Thr841Lys) rs750195208
NM_001267550.2(TTN):c.25521A>G (p.Val8507=) rs886055293
NM_001267550.2(TTN):c.26012C>T (p.Pro8671Leu) rs2077292301
NM_001267550.2(TTN):c.26597A>G (p.Asp8866Gly) rs2077094217
NM_001267550.2(TTN):c.26618A>G (p.Asp8873Gly) rs776032171
NM_001267550.2(TTN):c.26656G>A (p.Gly8886Ser) rs72648991
NM_001267550.2(TTN):c.26762-39TTTGT[11] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[9] rs71393436
NM_001267550.2(TTN):c.2758C>T (p.His920Tyr) rs886055307
NM_001267550.2(TTN):c.28317T>C (p.Ser9439=) rs886055290
NM_001267550.2(TTN):c.28353C>G (p.Ser9451Arg) rs777096848
NM_001267550.2(TTN):c.28399T>C (p.Tyr9467His) rs2076528608
NM_001267550.2(TTN):c.29153T>G (p.Ile9718Ser) rs4893852
NM_001267550.2(TTN):c.29376G>A (p.Lys9792=) rs1560529237
NM_001267550.2(TTN):c.29786A>G (p.Glu9929Gly) rs1340062320
NM_001267550.2(TTN):c.30456G>C (p.Arg10152=) rs764333790
NM_001267550.2(TTN):c.30683-3del rs368277751
NM_001267550.2(TTN):c.30803-14T>C rs2073693398
NM_001267550.2(TTN):c.30978A>G (p.Val10326=) rs2073654294
NM_001267550.2(TTN):c.31207+5G>A rs876658051
NM_001267550.2(TTN):c.31348+14C>T rs2073303724
NM_001267550.2(TTN):c.31530G>T (p.Lys10510Asn) rs778911890
NM_001267550.2(TTN):c.3165-9T>C rs886055306
NM_001267550.2(TTN):c.31857A>G (p.Val10619=) rs886055286
NM_001267550.2(TTN):c.31871T>C (p.Val10624Ala) rs2071792935
NM_001267550.2(TTN):c.3197A>T (p.Asp1066Val) rs886055305
NM_001267550.2(TTN):c.32872C>A (p.Pro10958Thr) rs2069920810
NM_001267550.2(TTN):c.33001G>A (p.Glu11001Lys)
NM_001267550.2(TTN):c.33473T>C (p.Val11158Ala) rs1441498569
NM_001267550.2(TTN):c.33754C>T (p.Pro11252Ser) rs886055283
NM_001267550.2(TTN):c.33826+7G>A rs752099208
NM_001267550.2(TTN):c.33910+3A>G
NM_001267550.2(TTN):c.34015G>A (p.Val11339Ile) rs886055282
NM_001267550.2(TTN):c.34207G>C (p.Glu11403Gln) rs878921943
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.34248A>C (p.Glu11416Asp) rs780920687
NM_001267550.2(TTN):c.36790+5G>T rs752204534
NM_001267550.2(TTN):c.39464-15T>C rs2062964886
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.41468C>G (p.Pro13823Arg) rs2060403983
NM_001267550.2(TTN):c.41503C>T (p.Arg13835Trp) rs886055278
NM_001267550.2(TTN):c.43422A>T (p.Glu14474Asp) rs998106657
NM_001267550.2(TTN):c.43939G>C (p.Ala14647Pro) rs2059746777
NM_001267550.2(TTN):c.440C>G (p.Ser147Cys) rs2094006092
NM_001267550.2(TTN):c.44373T>C (p.Asp14791=) rs772552324
NM_001267550.2(TTN):c.44413C>G (p.Pro14805Ala) rs753926213
NM_001267550.2(TTN):c.44467A>G (p.Arg14823Gly) rs886055277
NM_001267550.2(TTN):c.44519T>A (p.Phe14840Tyr) rs886055276
NM_001267550.2(TTN):c.44815+14T>C rs2058737403
NM_001267550.2(TTN):c.44913+10dup rs745700983
NM_001267550.2(TTN):c.45725G>T (p.Arg15242Ile) rs140795503
NM_001267550.2(TTN):c.45746A>G (p.Asp15249Gly) rs2058157979
NM_001267550.2(TTN):c.45897G>C (p.Glu15299Asp) rs760431926
NM_001267550.2(TTN):c.45942G>T (p.Met15314Ile) rs2058108323
NM_001267550.2(TTN):c.46044A>C (p.Ser15348=) rs886055273
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn) rs397517583
NM_001267550.2(TTN):c.46172C>T (p.Thr15391Ile) rs775807236
NM_001267550.2(TTN):c.46226T>C (p.Val15409Ala)
NM_001267550.2(TTN):c.46354T>G (p.Cys15452Gly) rs2058039119
NM_001267550.2(TTN):c.46773T>C (p.Tyr15591=) rs397517586
NM_001267550.2(TTN):c.48024G>T (p.Arg16008=) rs780824428
NM_001267550.2(TTN):c.48106A>C (p.Lys16036Gln) rs886055271
NM_001267550.2(TTN):c.48160G>A (p.Ala16054Thr) rs1576492463
NM_001267550.2(TTN):c.49436G>A (p.Gly16479Asp) rs2056796893
NM_001267550.2(TTN):c.49648+5T>C rs759948503
NM_001267550.2(TTN):c.50355-3T>C rs1172932037
NM_001267550.2(TTN):c.5039T>A (p.Leu1680His) rs886055304
NM_001267550.2(TTN):c.51672A>C (p.Ala17224=) rs755746120
NM_001267550.2(TTN):c.5176C>A (p.Leu1726Ile) rs2092262370
NM_001267550.2(TTN):c.51818G>A (p.Gly17273Glu)
NM_001267550.2(TTN):c.51859G>A (p.Val17287Ile) rs1333508634
NM_001267550.2(TTN):c.51885G>T (p.Lys17295Asn) rs72632861
NM_001267550.2(TTN):c.52062C>A (p.Asp17354Glu) rs886055269
NM_001267550.2(TTN):c.52428G>A (p.Lys17476=) rs886055268
NM_001267550.2(TTN):c.53758A>G (p.Thr17920Ala)
NM_001267550.2(TTN):c.53881+4C>A rs187632918
NM_001267550.2(TTN):c.54263C>T (p.Ala18088Val) rs2054396232
NM_001267550.2(TTN):c.54449G>A (p.Ser18150Asn) rs886055264
NM_001267550.2(TTN):c.54469A>G (p.Lys18157Glu) rs886055263
NM_001267550.2(TTN):c.54636T>C (p.Tyr18212=) rs397517620
NM_001267550.2(TTN):c.5483T>G (p.Leu1828Arg) rs2092226818
NM_001267550.2(TTN):c.55909C>T (p.Arg18637Cys) rs374151130
NM_001267550.2(TTN):c.56286T>C (p.Tyr18762=) rs886055262
NM_001267550.2(TTN):c.56396C>T (p.Ala18799Val) rs753746652
NM_001267550.2(TTN):c.56595T>C (p.Tyr18865=) rs886055261
NM_001267550.2(TTN):c.56685C>T (p.Ser18895=) rs375403059
NM_001267550.2(TTN):c.56986A>C (p.Lys18996Gln)
NM_001267550.2(TTN):c.58037T>C (p.Val19346Ala) rs754793079
NM_001267550.2(TTN):c.58299T>A (p.Thr19433=) rs778334134
NM_001267550.2(TTN):c.58399T>A (p.Ser19467Thr) rs920055688
NM_001267550.2(TTN):c.58433-15T>G rs2050786898
NM_001267550.2(TTN):c.58639G>A (p.Gly19547Arg) rs886055260
NM_001267550.2(TTN):c.58726C>T (p.Arg19576Cys) rs779755661
NM_001267550.2(TTN):c.58984A>G (p.Ile19662Val) rs886055259
NM_001267550.2(TTN):c.59200C>T (p.Pro19734Ser) rs563889482
NM_001267550.2(TTN):c.5953A>G (p.Ile1985Val) rs886055303
NM_001267550.2(TTN):c.60811C>A (p.Pro20271Thr) rs886055256
NM_001267550.2(TTN):c.60844G>C (p.Asp20282His) rs2050065045
NM_001267550.2(TTN):c.60988T>C (p.Phe20330Leu) rs2050031384
NM_001267550.2(TTN):c.60991A>G (p.Arg20331Gly) rs1226541281
NM_001267550.2(TTN):c.6151A>G (p.Lys2051Glu) rs1393006247
NM_001267550.2(TTN):c.62165G>A (p.Ser20722Asn) rs568728579
NM_001267550.2(TTN):c.62272G>A (p.Glu20758Lys) rs794729470
NM_001267550.2(TTN):c.62834G>A (p.Gly20945Asp) rs2049635543
NM_001267550.2(TTN):c.63009G>C (p.Lys21003Asn) rs794729472
NM_001267550.2(TTN):c.64685C>A (p.Pro21562His) rs1213776805
NM_001267550.2(TTN):c.64965C>G (p.Phe21655Leu) rs886055255
NM_001267550.2(TTN):c.65062G>A (p.Gly21688Arg) rs372661193
NM_001267550.2(TTN):c.65633G>C (p.Gly21878Ala) rs767001973
NM_001267550.2(TTN):c.66376T>C (p.Tyr22126His) rs1447894010
NM_001267550.2(TTN):c.66565A>G (p.Ile22189Val) rs886055254
NM_001267550.2(TTN):c.66985G>A (p.Ala22329Thr) rs886055253
NM_001267550.2(TTN):c.67056T>C (p.Leu22352=) rs747715690
NM_001267550.2(TTN):c.6768G>A (p.Thr2256=) rs886055302
NM_001267550.2(TTN):c.69095A>T (p.His23032Leu) rs886055251
NM_001267550.2(TTN):c.69490G>A (p.Val23164Met) rs755341733
NM_001267550.2(TTN):c.71544T>G (p.His23848Gln)
NM_001267550.2(TTN):c.71612T>C (p.Ile23871Thr) rs770250820
NM_001267550.2(TTN):c.71956G>A (p.Val23986Ile) rs754373279
NM_001267550.2(TTN):c.72166C>A (p.Arg24056Ser) rs372662393
NM_001267550.2(TTN):c.72497G>A (p.Ser24166Asn) rs886055248
NM_001267550.2(TTN):c.73563C>G (p.Gly24521=) rs756809007
NM_001267550.2(TTN):c.73776G>A (p.Arg24592=) rs886055247
NM_001267550.2(TTN):c.74508T>C (p.Asp24836=) rs1060503924
NM_001267550.2(TTN):c.74573T>C (p.Ile24858Thr) rs1708197097
NM_001267550.2(TTN):c.75255T>C (p.Asn25085=) rs1707950573
NM_001267550.2(TTN):c.75311A>T (p.Asp25104Val) rs534319705
NM_001267550.2(TTN):c.75489C>T (p.Thr25163=) rs1234238096
NM_001267550.2(TTN):c.75634G>C (p.Val25212Leu) rs1707781335
NM_001267550.2(TTN):c.75706G>A (p.Asp25236Asn) rs1707754880
NM_001267550.2(TTN):c.76296T>C (p.Asp25432=) rs868081432
NM_001267550.2(TTN):c.7705G>A (p.Asp2569Asn) rs2091797961
NM_001267550.2(TTN):c.77911T>C (p.Tyr25971His) rs1432174919
NM_001267550.2(TTN):c.78193G>A (p.Val26065Met) rs1371536406
NM_001267550.2(TTN):c.79106T>C (p.Val26369Ala) rs1706144836
NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys) rs3731746
NM_001267550.2(TTN):c.80252C>T (p.Ala26751Val) rs912122514
NM_001267550.2(TTN):c.80484C>G (p.Ser26828Arg) rs886055243
NM_001267550.2(TTN):c.80890A>G (p.Asn26964Asp) rs886055242
NM_001267550.2(TTN):c.81017G>T (p.Ser27006Ile) rs886055241
NM_001267550.2(TTN):c.81373A>C (p.Thr27125Pro) rs1362825687
NM_001267550.2(TTN):c.81600C>G (p.Ser27200Arg) rs773107849
NM_001267550.2(TTN):c.82658G>C (p.Gly27553Ala) rs753766297
NM_001267550.2(TTN):c.82720C>T (p.Pro27574Ser) rs2154161353
NM_001267550.2(TTN):c.8290C>G (p.Leu2764Val)
NM_001267550.2(TTN):c.83192T>C (p.Leu27731Ser) rs886055238
NM_001267550.2(TTN):c.83416C>G (p.Arg27806Gly) rs886055237
NM_001267550.2(TTN):c.83592C>G (p.Pro27864=) rs760755965
NM_001267550.2(TTN):c.8373C>T (p.His2791=) rs566816279
NM_001267550.2(TTN):c.84196G>A (p.Glu28066Lys) rs1703825463
NM_001267550.2(TTN):c.85243T>C (p.Leu28415=) rs1703401045
NM_001267550.2(TTN):c.85449C>T (p.Ile28483=) rs758811159
NM_001267550.2(TTN):c.85541A>T (p.Lys28514Met) rs886055234
NM_001267550.2(TTN):c.86456A>C (p.Asp28819Ala)
NM_001267550.2(TTN):c.86822-8T>G
NM_001267550.2(TTN):c.87329C>T (p.Ala29110Val) rs763682832
NM_001267550.2(TTN):c.88047G>A (p.Lys29349=) rs748102856
NM_001267550.2(TTN):c.88774A>G (p.Ile29592Val) rs1700602244
NM_001267550.2(TTN):c.88851C>T (p.Gly29617=) rs201241167
NM_001267550.2(TTN):c.88951A>G (p.Thr29651Ala) rs879233366
NM_001267550.2(TTN):c.89392T>A (p.Ser29798Thr) rs886055232
NM_001267550.2(TTN):c.89479C>G (p.Pro29827Ala) rs201620815
NM_001267550.2(TTN):c.89716G>A (p.Asp29906Asn) rs770892973
NM_001267550.2(TTN):c.90244A>G (p.Ile30082Val) rs777636306
NM_001267550.2(TTN):c.9116C>A (p.Thr3039Asn) rs774523194
NM_001267550.2(TTN):c.91316T>C (p.Ile30439Thr) rs561319486
NM_001267550.2(TTN):c.915-7dup rs730880351
NM_001267550.2(TTN):c.91514T>C (p.Ile30505Thr) rs1699227127
NM_001267550.2(TTN):c.91871T>C (p.Val30624Ala) rs886055231
NM_001267550.2(TTN):c.92336G>C (p.Arg30779Thr) rs1289817129
NM_001267550.2(TTN):c.92645C>A (p.Thr30882Lys) rs1698296911
NM_001267550.2(TTN):c.93043G>C (p.Asp31015His)
NM_001267550.2(TTN):c.93071C>T (p.Thr31024Ile)
NM_001267550.2(TTN):c.94039G>C (p.Glu31347Gln) rs886055230
NM_001267550.2(TTN):c.94239C>A (p.Thr31413=) rs1042759526
NM_001267550.2(TTN):c.94771G>C (p.Gly31591Arg) rs1697305563
NM_001267550.2(TTN):c.94864G>A (p.Gly31622Ser) rs1385680314
NM_001267550.2(TTN):c.95163A>G (p.Thr31721=) rs376944872
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys) rs869320742
NM_001267550.2(TTN):c.95342G>A (p.Arg31781Gln) rs748984928
NM_001267550.2(TTN):c.95490A>G (p.Lys31830=) rs1696713042
NM_001267550.2(TTN):c.97045G>A (p.Glu32349Lys) rs1695237277
NM_001267550.2(TTN):c.97388G>A (p.Arg32463Lys) rs1257117887
NM_001267550.2(TTN):c.97410T>C (p.Tyr32470=) rs886055228
NM_001267550.2(TTN):c.97592T>A (p.Val32531Glu) rs1060500477
NM_001267550.2(TTN):c.98524G>T (p.Ala32842Ser) rs199647622
NM_001267550.2(TTN):c.98617G>A (p.Glu32873Lys) rs1575354700
NM_001267550.2(TTN):c.99371T>C (p.Ile33124Thr)
NM_001267550.2(TTN):c.99567C>T (p.Leu33189=) rs745708104
NM_133379.5(TTN):c.11148G>C (p.Lys3716Asn)

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