Article details

Pugh et al. Genetics in Medicine 2014:Epub ahead of print.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DES1S6Sc.18G>Ap.Ser6= 0/0 DCM Also carries G65S in DES, H1259 in MYH7, S22136 in TTN. Mutation details
DES1S13Fc.38C>Tp.Ser13Phe 0/0 DCM, age 49 DCM and AV block Mutation details
DES1A38Ac.114G>Tp.Ala38= 0/0 DCM Also carries DES p.Leu194Leu, LMNA p.Gly638Arg, MYBPC3 p.Arg1036Cys Mutation details
DES1K43Ec.127A>Gp.Lys43Glu 0/0 DCM Also carries CSRP3 c.509-3_509-2delCA, PKP2 p.Ile458Val, DSG2 p.Cys637Cys p.Gly638Gly, SGCD p.Lys238del, TTN p.Lys5362Lys. Mutation details
DES1G65Sc.193G>Ap.Gly65Ser 0/0 DCM Also carries S6 in DES, H1259 in MYH7,V12296 S22136 in TTN. Mutation details
DES1L136Hc.407T>Ap.Leu136His 0/0 DCM Also carries LAMP2 p.Thr196Ser, MYH7 c.1139-14C>T, MYOZ2 c.77-14A>G, FHL2 p.Val29Met, PKP2 p.Val587Ile, TTN p.Thr3713Ser p.Asp29049Glu Mutation details
DES2L194Lc.582G>Ap.Leu194= 0/0 DCM Also carries DES p.Ala38Ala, LMNA p.Gly638Arg, MYBPC3 p.Arg1036Cys Mutation details
DES2R201fsX220c.600delGp.Lys201ArgfsX20 0/0 DCM, age 26 Clinical diagnosis of DCM with myopathy. Also carries R429X in DES, D23371A I28975M R29799C D30198Y in TTN, S1335 in MYH7 Mutation details
DES3splicec.735+3A>Gr.spl? 0/0 DCM, age 49 DCM with AV block and ventricular tachycardia. Mutation details
DES3D214Dc.642C>Tp.Asp214= 0/0 DCM   Mutation details
DES4splicec.897+4_897+5delGGr.spl? 0/0 DCM, age 63   Mutation details
DES4E262Vc.785A>Tp.Glu262Val 0/0 DCM also carries V1537V in MYH6. Mutation details
DES4D264Dc.792C>Tp.Asp264= 0/0 DCM   Mutation details
DES5D312Nc.934G>Ap.Asp312Asn 0/0 DCM   Mutation details
DES5D312Ac.935A>Cp.Asp312Ala 0/0 DCM Also carries LMNA c.*6G>A, DSP p.Arg866Cys, LAMA4 p.Gly172Ser p.Ala318Ala, MYBPC3 p.Gly416Ser p.Gly999Gly, MYH6 p.Asp377Glu, MYH7 c.2162+4G>A, TTN p.Gly1106Gly Mutation details
DES7R429Xc.1285C>Tp.Arg429X 0/0 DCM, age 26 Clinical diagnosis of DCM with myopathy. Also carries R201fsX220 in DES, D23371A I28975M R29799C D30198Y in TTN, S1335 in MYH7 Mutation details
DSC26intronicc.776-12T>G- 0/0 DCM also carries RBM20 p.Glu913Lys, TTN p.Ser5208Ser p.Asp14124Asp p.Pro3811Ser, ABCC9 c.2093-7T>C, MYH7 p.Ala1637Ala, RBM20 p.Pro393Pro. Mutation details
DSC212I577Vc.1729A>Gp.Ile577Val 0/0 DCM age 58 carries p.Tyr12221ThrfsX15 in TTN Mutation details
DSC215V816Mc.2446G>Ap.Val816Met 0/0 DCM also carries LDB3 p.Ala442_Pro449del p.Val491Glu, TTN p.Asn7647Ser c.27071-15C>T, CAV3 p.Pro48Pro p.Ala102Ala, MYL3 c.482-14C>A c.559+6C>T, SGCD p.Leu41Leu, TTN p.Cys30763Arg p.Ser32508Ser Mutation details
DSC216A897fsX900c.2686_2687dupGAp.Ala897LysfsX4 0/0 DCM N=2 1 patient also carries LDB3 c.*13G>T,R148R in CAV3,H296H in PKP2,S6482L D12542N in TTN. 1 patient also carries T335A in DSG2,c.407-14C>A in ABCC9,K413K in DTNA, I1899I inTTN. Mutation details
DSG25V158Vc.474G>Ap.Val158= 0/0 DCM Also carries DSP p.Ala1584Thr, NEXN p.Glu470del p.Arg279Cys, SGCD p.Ser280Tyr,TTN p.Ala8736Thr p.Val3816Ile p.Gly16402Gly p.Pro24793Ala p.Arg26725Cys, TTR c.*3_*11delGACTTCTCC Mutation details
DSG26N182Sc.545A>Gp.Asn182Ser 0/0 DCM also carries DSP p.Ser2843_Arg2846del, MYH6 p.Tyr162Cys, TTN p.Lys19758Arg c.10166-10G>C, ABCC9 p.Leu306Leu, MYL3 c.130-14G>T Mutation details
DSG28T335Ac.1003A>Gp.Thr335Ala 0/0 DCM Also carries c.407-14C>A in ABCC9, A897fsX900 in DSC2,K41K3 in DTNA,I1899I in TTN. Mutation details
DSG29S351Gc.1051A>Gp.Ser351Gly 0/0 DCM also carries RBM20 p.Thr177Ser, DSG2 c.1652-12C>T, PKP2 p.Ala236Ser, TTN p.Gly5814Asp p.Leu9540Val p.Lys15950Arg c.88606+11T>C c.90979+7G>C Mutation details
DSG211intronicc.1652-12C>T- 0/0 DCM also carries RBM20 p.Thr177Ser, DSG2 p.Ser351Gly, PKP2 p.Ala236Ser,TTN p.Gly5814Asp p.Leu9540Val p.Lys15950Arg c.88606+11T>C c.90979+7G>C Mutation details
DSG213C637Cc.1911C>Tp.Cys637= 0/0 DCM also carries CSRP3 c.509-3_509-2delCA,DES p.Lys43Glu, PKP2 p.Ile458Val, DSG2 p.Gly638Gly, SGCD p.Lys238del, TTN p.Lys5362Lys Mutation details
DSG213G638Gc.1914A>Gp.Gly638Gly 0/0 DCM also carries CSRP3 c.509-3_509-2delCA, DES p.Lys43Glu, PKP2 p.Ile458Val, DSG2 p.Cys637Cys, SGCD p.Lys238del, TTN p.Lys5362Lys Mutation details
DSG215V920Gc.2759T>Gp.Val920Gly 0/0 DCM N=2 1 patient also carries c.13451-9T>C R30180H in TTN. 1 patient also carries I5261T N31645S in TTN. Mutation details
DSG215I962Mc.2886T>Gp.Ile962Met 0/0 DCM also carries TTR p.Val142Ile, PRKAG2 p.His440Tyr Mutation details
DSG215V1014Ic.3040G>Ap.Val1014Ile 0/0 DCM Also carries E290K in LMNA, K12568N V32286L in TTN. Mutation details
DSP5D203Nc.607G>Ap.Asp203Asn 0/0 DCM Also carries MYBPC3 p.Arg1228Cys, RBM20 p.Asp888Asn, TTN p.Tyr5095His, JUP c.708-4C>G, LAMA4 c.1056+8_1056+9insT Mutation details
DSP5W233Xc.699G>Ap.Trp233X 0/0 DCM, age 37   Mutation details
DSP7Splicec.939+1G>Ar.spl? 0/0 DCM, age 42 Also carries DSP p.Gly2832Val, RYR2 p.Asn4514Ser, TTN p.Glu9928dup, TTR p.Thr139Met. Mutation details
DSP8R315Cc.943C>Tp.Arg315Cys 0/0 DCM, N=2 1 patient also carries R547X in VCL,W13903C in TTN. 1 patient also carries A717T in ABCC9,W261R in CASQ2,E1179K in MYBPC3, R1396R in MYH7,S6482L D12542N in TTN. Mutation details
DSP10Intronicc.1266+6G>T- 0/0 DCM Also carries ACTN2 p.Thr412Met, MYH7 p.Ile724Asn, TTN p.Arg1861His p.Arg13564His p.Pro14315Ser p.Glu27925Gly p.Gln32642His p.Thr21822Ala p.Ser26653Ser p.Asn27144Asn p.Leu29758Leu,PKP2 c.1171-11T>C, TNNT2 c.690-4G>T. Mutation details
DSP12T496Tc.1488G>Ap.Thr496= 0/0 DCM Also carries TTN p.Lys5510Glu p.Val18643Ala p.Lys4646Glu p.Arg13340His p.Pro18799Pro p.Ser20658Gly Mutation details
DSP12Intronicc.1574+14G>T- 0/0 DCM, age 28 Also carries A29528T, P9631L, P18487, I2716fsX2724 in TTN,D26N in PKP2 Mutation details
DSP14N593Sc.1778A>Gp.Asn593Ser 0/0 DCM Also carries p.Ser573Leu in LMNA, p.Gly16504GlufsX12 p.Gly24241Ser p.Trp25607Arg in TTN, p.Val648Ile in JUP, p.Arg106Cys in TCAP Mutation details
DSP17D782Dc.2346C>Tp.Asp782Asp 0/0 DCM Also carries ANKRD1 p.Arg66Gln, TNNT2 p.Ala177Asp, TTN p.Pro10102Pro c.92468-10_92468-9insT p.Thr869Ser p.Glu4977Asp p.Thr29479Met, NEXN p.Glu332Ala, RYR2 p.Glu920Glu Mutation details
DSP18R866Cc.2596C>Tp.Arg866Cys 0/0 DCM Also carries LMNA c.*6G>A, DES p.Asp312Ala, LAMA4 p.Gly172Ser, LMNA p.Ala318Ala, MYBPC3 p.Gly416Ser p.Gly999Gly, MYH6 p.Asp377Glu, MYH7 c.2162+4G>A, TTN p.Gly1106Gly Mutation details
DSP20N950fsX952c.2848_2849insAp.Ile950AsnfsX3 0/0 DCM, age 41 Clinical diagnosis of DCM with VT, family history of sudden cardiac death. Carries also S154R in PKP2 ,P244L in SGCD, I148V in TNNC1, A833T in MYBPC3, T21743A in TTN. Mutation details
DSP20N956Yc.2866A>Tp.Asn956Tyr 0/0 DCM Also carries ANKRD1 p.Ser187Phe, TTN p.Arg9774Gln p.Thr23012Met p.Tyr4266Cys p.Val8466Ile p.Thr19946Thr, RBM20 p.Arg1057Gln. Mutation details
DSP23R1458Gc.4372C>Gp.Arg1458Gly 0/0 DCM Also carries V1451A in ABCC9, A462S in ACTN2,Asp364GlyfsX10 in CASQ2, I2314T K10621E in TTN Mutation details
DSP23A1584Tc.4750G>Ap.Ala1584Thr 0/0 DCM Also carries NEXN p.Glu470del p.Arg279Cys, SGCD p.Ser280Tyr,DSG2 p.Val158Val,TTN p.Ala8736Thr p.Val3816Ile p.Gly16402Gly p.Pro24793Ala p.Arg26725Cys, TTR c.*3_*11delGACTTCTCC Mutation details
DSP23E1740Kc.5218G>Ap.Glu1740Lys 0/0 DCM Also carries c.500-5C>G in VCL. Mutation details
DSP24D2070Nc.6208G>Ap.Asp2070Asn 0/0 DCM N=2 1 patient also carries R12535X A1827S, I10816_E10821del I13750T in TTN. 1 patient also carries L28731fsX28744 R33194Q in TTN, A669T in LAMA4, R106C in TCAP. Mutation details
DSP24G2226Gc.6678T>Ap.Gly2226= 0/0 DCM Also carries ACTN2 p.Met246Val, NEXN p.Thr666Ala Mutation details
DSP24Q2295Hc.6885A>Tp.Gln2295His 0/0 DCM Also carries TTN p.Pro10595Thr p.His17066His p.Pro17413Pro p.Val24189Val, RYR2 p.Pro1535Pro, TMEM43 c.297+13G>A. Mutation details
DSP24G2832Vc.8495G>Tp.Gly2832Val 0/0 DCM Also carries DSP c.939+1G>A, RYR2 p.Asn4514Ser, TTN p.Glu9928dup, TTR p.Thr139Met Mutation details
DSP24S2843_R2846delc.8527_8538del12p.Ser2843_Arg2846del 0/0 DCM Also carries MYH6 p.Tyr162Cys, TTN c.10166-10G>C, ABCC9 p.Leu306Leu, DSG2 p.Asn182Ser, MYL3 c.130-14G>T Mutation details
JUP4Splicec.708-4C>Gr.spl? 0/0 DCM also carries DSP p.Asp203Asn, MYBPC3 p.Arg1228Cys, RBM20 p.Asp888Asn, TTN p.Tyr5095His, LAMA4 c.1056+8_1056+9insT Mutation details
JUP5Y297Yc.891C>Tp.Tyr297Tyr 0/0 DCM Also carries ABCC9 c.2093-7T>C, TTN p.Ile3956Phe Mutation details
JUP12V648Ic.1942G>Ap.Val648Ile 0/0 DCM N=5 1 patient also carries p.Asn593Ser in DSP, p.Ser573Leu in LMNA, p.Gly16504GlufsX12 p.Gly24241Ser p.Trp25607Arg in TTN,p.Arg106Cys in TCAP. 1 patient also carries p.Pro1089Ala in RBM20, p.Ala174Thr in TMEM43, p.Val7271Val c.18509-5T>C p.Asp20190Asn in TTN,p.Val189Ile in MYBPC3. 1 patient also carries p.Ser6482Leu p.Asp12542Asn in TTN. 1 patient also carries p.Ile112Ile in CAV3, p.Arg15131His in TTN. 1 patient also carries c.4455-3C>A in LAMA4, p.Met11602Thr in TTN,p.Asp1375Asp in RYR2 Mutation details
LMNA1Q6Xc.16C>Tp.Gln6X 0/0 DCM, age 40 Also carries R71 in SGCD. Mutation details
LMNA1I26Ic.78C>Tp.Ile26= 0/0 DCM, age 40 Also carries LDB3 I558V in LMNA. Mutation details
LMNA1L52Vc.154C>Gp.Leu52Val 0/0 DCM, age 47 Clinical diagnosis and family history of DCM, also carries S66 in LMNA. Mutation details
LMNA1S66Sc.198T>Cp.Ser66= 0/0 DCM,age 47 Clinical diagnosis and family history of DCM, also carries L52V in LMNA Mutation details
LMNA1R89Hc.266G>Ap.Arg89His 0/0 DCM, age 33   Mutation details
LMNA1R119Pc.356G>Cp.Arg119Pro 0/0 DCM, age 44 Clinical diagnosis of DCM wtih ventricular fibirllation, family history of arrhythmia and sudden death Mutation details
LMNA2A146Tc.436G>A p.Ala146Thr 0/0 DCM   Mutation details
LMNA2T150Pc.448A>Cp.Thr150Pro 0/0 DCM, age 24 Clinical diagnosis and family history of DCM and muscle weakness. Also carries Y281C in LAMP2, c.91+14T>C and K4646E in TTN. Mutation details
LMNA2E161Kc.481G>Ap.Glu161Lys 0/0 DCM, N=2, age 49 52 1 patient also carries A172 in ACTC1. 1 patient also carries K117R in LMNA, S1354 in ABCC9, A848 in MYBPC3. Mutation details
LMNA3splicec.513+1G>Cr.spl? 0/0 DCM, age 49 Clinical diagnosis and family history of DCM and muscular dystrophy Mutation details
LMNA4R225Xc.673C>Tp.Arg225X 0/0 DCM, age 41 55 1 patient also carries P5140T and R15131H in TTN, c.407-14C>A in ABCC9. Mutation details
LMNA4Q234Xc.700C>Tp.Gln234X 0/0 DCM, age 60   Mutation details
LMNA4E247Kc.739G>Ap.Glu247Lys 0/0 DCM, age 39   Mutation details
LMNA4R255fsX479c.763delCp.Gln255ArgfsX225 0/0 DCM, age 46 Reduced ejection fraction, family history of DCM and sudden death. Also carries c.23030-14_23030-10dupTTTGT and Q19659 in TTN. Mutation details
LMNA4L263Lc.789G>Ap.Leu263= 0/0 DCM, age 56   Mutation details
LMNA4Y267Hc.799T>Cp.Tyr267His 0/0 DCM, age 36 Clinical diagnosis and family history of DCM, also carries V189I in MYBPC3,Glu1799 in MYH7 Mutation details
LMNA5A288Gc.863C>Gp.Ala288Gly 0/0 DCM, age 33 DCM with atrial fibrillation, family history of sudden death Mutation details
LMNA5E290Kc.868G>Ap.Glu290Lys 0/0 DCM Also carries V1014I in DSG2, K12568N V32286L in TTN. Mutation details
LMNA5I299Vc.895A>Gp.Ile299Val 0/0 DCM also carries c.11880+13_11880+16delACTG in RYR2, c.23030-14_23030-10dupTTTGT S6959S R11967C in TTN. Mutation details
LMNA6E317Kc.949G>Ap.Glu317Lys 0/0 DCM, age 57 Clinical diagnosis of DCM with VT, family history of DCM, bradycardia, and sudden cardiac death. Also carries G6A in DTNA, S1754T in RYR2, S41 in PRKAG2, D28590H in TTN. Mutation details
LMNA6A318Ac.954G>Ap.Ala318= 0/0 DCM Also carries LMNA c.*6G>A, DES p.Asp312Ala, DSP p.Arg866Cys, LAMA4 p.Gly172Ser, MYBPC3 p.Gly416Ser p.Gly999Gly, MYH6 p.Asp377Glu, MYH7 c.2162+4G>A,TTN p.Gly1106Gly Mutation details
LMNA6F320fsX479c.958delCp.Leu320PhefsX160 0/0 DCM, age 56 Clinical diagnosis and famiy history of DCM Mutation details
LMNA6R321Xc.961C>Tp.Arg321X 0/0 DCM, age 54 Also carries T300N in LDB3 Mutation details
LMNA6S326Tc.976T>Ap.Ser326Thr 0/0 DCM, age 58 DCM with AV block, also carries E519 in ABCC9. Mutation details
LMNA6R331Qc.992G>Ap.Arg331Gln 0/0 DCM, age 35 DCM with ventricular tachycardia, also carries R541C in LMNA and A331 in LDB3. Mutation details
LMNA6R335Wc.1003C>Tp.Arg335Trp 0/0 DCM, N=3, age=44,36,51 Clinical Diagnosis and Family History of DCM Mutation details
LMNA6L369Pc.1106T>Cp.Leu369Pro 0/0 DCM, age 12 Clinical diagnosis of DCM with AV block, VT and ectopic atrial tachycardia. Also carries L48 in EMD, S217G in MYBPC3, L1052 in MYH7. Mutation details
LMNA6M371_A375delc.1111_1125delp.Met371_Ala375del 0/0 DCM, age 15   Mutation details
LMNA6R377Cc.1129C>Tp.Arg377Cys 0/0 DCM, age 49 Clinical Diagnosis and Family History of DCM Mutation details
LMNA6G382Gc.1146C>Tp.Gly382= 0/0 DCM, N=3 1 patient carries also S154R in PKP2 ,P244L in SGCD, I148V in TNNC1, A833T in MYBPC3, T21743A in TTN. 1 patient also carries D398del in CASQ2, D375N in MYLK2, R278C in TNNT2, A304 in PRKAG2. Mutation details
LMNA7R401Cc.1201C>Tp.Arg401Cys 0/0 DCM, age 19   Mutation details
LMNA7S414Sc.1242C>Tp.Ser414= 0/0 DCM, age 58 Also carries E1152V in MYH7, R318C in VCL. Mutation details
LMNA8R471Hc.1412G>Ap.Arg471His 0/0 DCM, age 61 Clinical diagnosis of DCM, conduction system disease, skeletal muscle weakness, family history of DCM Mutation details
LMNA8Y481Cc.1442A>Gp.Tyr481Cys 0/0 DCM, age 16 Clinical diagnosis of DCM and atrial fibrillation Mutation details
LMNA9G523Rc.1567G>Ap.Gly523Arg 0/0 DCM, age 40   Mutation details
LMNA9Y510fsX551c.1526_1527insCp.Thr510TyrfsX42 0/0 DCM, age 32   Mutation details
LMNA10Splicec.1609-3C>Gr.spl? 0/0 DCM   Mutation details
LMNA10R541Cc.1621C>Tp.Arg541Cys 0/0 DCM, N=2, age=15,35 1 patient also carries R541C in LMNA and A331 in LDB3. Mutation details
LMNA11S573Lc.1718C>Tp.Ser573Leu 0/0 DCM Also carries p.Asn593Ser in DSP, p.Gly16504GlufsX12 p.Gly24241Ser p.Trp25607Arg in TTN, p.Val648Ile in JUP, p.Arg106Cys in TCAP Mutation details
LMNA11L587Lc.1761G>Ap.Leu587= 0/0 DCM, N=3 1 patient also carries A893V in MYH7,E41C in MYBPC3. 1 patient also carries K4194R G1345D T33028I in TTN, A1873A in RYR2. Mutation details
LMNA11T590Tc.1770C>Gp.Thr590T= 0/0 DCM, age 58 Clinical diagnosis of DCM and family history of sudden death Mutation details
LMNA11C591Cc.1773C>Tp.Cys591= 0/0 DCM   Mutation details
LMNA11G638Rc.1912G>Ap.Gly638Arg 0/0 DCM, age 15   Mutation details
LMNA11R644Cc.1930C>Tp.Arg644Cys 0/0 DCM, N=2, age 19 24   Mutation details
LMNA3'UTRUTRc.*6G>A- 0/0 DCM Also carries DES p.Asp312Ala, DSP p.Arg866Cys, LAMA4 p.Gly172Ser, LMNA p.Ala318Ala, MYBPC3 p.Gly416Ser p.Gly999Gly, MYH6 p.Asp377Glu, MYH7 c.2162+4G>A, TTN p.Gly1106Gly Mutation details
PKP21D26Nc.76G>A p.Asp26Asn 0/0 DCM, age 28 Also carries A29528T, P9631L, P18487, I2716fsX2724 in TTN, c.1574+14G>T in DSP. Mutation details
PKP21E58Dc.174G>Tp.Glu58Asp 0/0 DCM N=2 1 patient also carries MYH7 p.Glu1286Lys p.Gln1471X, PKP2 p.Arg101His, TTN p.Glu9928dup p.Glu10667Lys c.19366+15G>T p.Asn27640Asn, RBM20 p.Glu1125Lys Mutation details
PKP21A65Ac.195C>Tp.Ala65= 0/0 DCM also carries D22047fsX22055 G18227 in TTN, R872C in MYH6,T139M in TTR. Mutation details
PKP21V72Lc.214G>Tp.Val72Leu 0/0 DCM Also carries M1766V in MYH6. Mutation details
PKP22R101Hc.302G>Ap.Arg101His 0/0 DCM, age 1 Also carries E1286K Q1471X in MYH7, E9928dup E10667K c.19366+15G>T N27640 in TTN, E58D in PKP2, E1125K in RBM20. Mutation details
PKP23S154Rc.462C>Gp.Ser154Arg 0/0 DCM, age 41 Clinical diagnosis of DCM with VT, family history of sudden cardiac death. Carries also N950fsX952 in DSP,P244L in SGCD, I148V in TNNC1, A833T in MYBPC3, T21743A in TTN. Mutation details
PKP23R158Kc.473G>Ap.Arg158Lys 0/0 DCM, age 10 Clinical diagnosis and family history of infantile DCM. Also carries G240R in TAZ, V1308I in LAMA4, c.23030-14_23030-10dupTTTGT P10000 in TTN. Mutation details
PKP23S172Rc.516C>Ap.Ser172Arg 0/0 DCM Also carries ACTC1 p.Ile269Thr, MYBPC3 p.Arg238His, NEXN c.1053+1G>A, TTN p.Asn3225Ser p.Ala3775Thr p.Gln4582Gln p.Ser18746Ser Mutation details
PKP23A236Tc.706G>Tp.Ala236Thr 0/0 DCM Also carries RBM20 p.Thr177Ser, DSG2 p.Ser351Gly c.1652-12C>T, TTN p.Gly5814Asp p.Leu9540Val p.Lys15950Arg c.88606+11T>C c.90979+7G>C Mutation details
PKP23H296Hc.888C>Tp.His296= 0/0 DCM Also carries LDB3 c.*13G>T,Arg148Arg in CAV3,DSC2 p.Ala897LysfsX, S6482L D12542N in TTN. Mutation details
PKP25Intronicc.1171-11T>C- 0/0 DCM Also carries ACTN2 p.Thr412Met, MYH7 p.Ile724Asn, TTN p.Arg1861His p.Arg13564His p.Pro14315Ser p.Glu27925Gly p.Gln32642His p.Thr21822Ala p.Ser26653Ser p.Asn27144Asn p.Leu29758Leu, DSP c.1266+6G>T, TNNT2 c.690-4G>T. Mutation details
PKP25I458Vc.1372A>Gp.Ile458Val 0/0 DCM Also carries CSRP3 c.509-3_509-2delCA, DES p.Lys43Glu, DSG2 p.Cys637Cys p.Gly638Gly, SGCD p.Lys238del, TTN p.Lys5362Lys Mutation details
PKP26A474Tc.1420G>Ap.Ala474Thr 0/0 DCM Also carries ANKRD1 c.208-15G>A , TTN p.Ala3471Thr p.Ser8413Leu Mutation details
PKP28V587Ic.1759G>Ap.Val587Ile 0/0 DCM N=2 1 patient also carries DES p.Leu136His, LAMP2 p.Thr196Ser, MYH7 c.1139-14C>T, MYOZ2 c.77-14A>G, FHL2 p.Val29Met, TTN p.Thr3713Ser p.Asp29049Glu. 1 patient also carries TTN p.Met31575Thr. Mutation details
PKP29I630Tc.1889T>Cp.Ile630Thr 0/0 DCM Also carries MYH7 p.Pro630Ser,PKP2 p.Asp26Asn Mutation details
PLN2R9Rc.27C>Tp.Arg9= 0/0 DCM Also carries RBM20 p.Arg716Gln, TPM1 p.Glu40X, RYR2 c.11880+13_11880+16delACTG, TTN p.Tyr12019Tyr Mutation details
PLN2K13fsX19c.37_38insAp.Arg13LysfsX7 0/0 DCM    Mutation details
PLN2R14delc.40_42delAGAp.Arg14del 0/0 DCM, age 48 Ventricular tachycardia and reduced ejection fraction. Also carries R130C in TCAP,V118M in LDB3. Mutation details
PLN2A15Tc.43G>Ap.Ala15Thr 0/0 DCM also carries V896M in MYBPC3. Mutation details
PLN2P21Tc.61C>Ap.Pro21Thr 0/0 DCM   Mutation details
TMEM432V17Vc.51T>Gp.Val17= 0/0 DCM Also carries MYBPC3 p.Arg1002Gln, RBM20 p.Arg703Lys, TTN p.Asp3648ValfsX22 p.Asp6218Glu p.Tyr23103Tyr. Mutation details
TMEM433Intronicc.297+13G>A- 0/0 DCM Also carries DSP p.Gln2295His, TTN p.Pro10595Thr p.His17066His p.Pro17413Pro p.Val24189Val, RYR2 p.Pro1535Pro. Mutation details
TMEM437A174Tc.520G>Ap.Ala174Thr 0/0 DCM also carries RBM20 p.Pro1089Ala, TTN c.18509-5T>C p.Asp20190Asn p.Val7271Val,JUP p.Val648Ile, MYBPC3 p.Val189Ile Mutation details
TMEM438S209Ac.625T>Gp.Ser209Ala 0/0 DCM also carries MYH7 p.Thr544Ala, TTN p.Pro5422Ala p.Ile3956Phe Mutation details
TTN2intronicc.91+14T>C- 0/0 DCM Clinical diagnosis and family history of DCM and muscle weakness. Also carries T150P in LMNA, Y281C in LAMP2, K4646E in TTN. Mutation details
TTN3N7647Sc.22940A>Gp.Asn7647Ser 0/0 DCM also carries DSC2 p.Val816Met, LDB3 p.Ala442_Pro449del p.Val491Glu, TTN c.27071-15C>T,CAV3 p.Pro48Pro p.Ala102Ala, MYL3 c.482-14C>A c.559+6C>T, SGCD p.Leu41Leu, TTN p.Cys30763Arg p.Ser32508Ser. Mutation details
TTN7A396Tc.1186G>Ap.Ala396Thr 0/0 DCM NM_133379.3 Also carries ACTN2 p.Arg298His,LDB3 p.Val118Met, CTF1 c.*5C>A, MYH7 p.Arg237Trp, TTN p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met ,TTN c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN8T455Tc.1365G>Ap.Thr455= 0/0 DCM also carries LDB3 p.Gln512Pro,TTN p.Asn20586LysfsX14 p.Thr4936Ser p.Asn7735His p.Met13395Val p.Tyr15596His p.Thr455Thr p.Lys6463Lys p.Thr24467Thr. Mutation details
TTN9Splicec.1399-3C>Tr.spl? 0/0 DCM also carries ABCC9 p.Arg1506Cys,TTN p.Tyr2010Cys p.Val15661Met p.Thr19563Ala,LMNA p.Gly638Arg Mutation details
TTN12intronicc.1938+10G>C- 0/0 DCM Carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN14P717Pc.2151C>Tp.Pro717= 0/0 DCM carries S11303fsX11309 in TTN, S642 in MYH7, E1125K in RBM20. Mutation details
TTN15T799Tc.2397G>Ap.Thr799= 0/0 DCM Also carries TTN c.29156-3C>A p.Val6938Val, LDB3 p.Ser474Ser, RBM20 c.1881-3C>T. Mutation details
TTN18R1012Xc.3034C>Tp.Arg1012X 0/0 DCM Also carries TAZ p.Gln70X, TTN c.32704+7_32704+10dupAATG p.Val3598Met p.Ile14220Thr p.Phe15186Leu. Mutation details
TTN20G1106c.3318C>Tp.Gly1106Gly 0/0 DCM Also carries LMNA c.*6G>A p.Ala318Ala,DES p.Asp312Ala,DSP p.Arg866Cys,LAMA4 p.Gly172Ser, MYBPC3 p.Gly416Ser p.Gly999Gly,MYH6 p.Asp377Glu, MYH7 c.2162+4G>A,TTN p.Gly1106Gly. Mutation details
TTN21V1157Ic.3469G>Ap.Val1157Ile 0/0 DCM Also carries RBM20 p.Pro638Leu p.Thr360Thr,SGCD p.Ala131ProfsX2,LAMA4 p.Leu1611Phe, TTN p.Gly32629Asp, RYR2 p.Asn3418Asn Mutation details
TTN24G1345Dc.4034G>Ap.Gly1345Asp 0/0 DCM N=2 1 patient also carries MYLK2 p.Ala2Thr, NEXN p.Glu332Ala, TTN p.Thr33028Ile. 1 patient also carries TTN p.Lys4194Arg, LMNA p.Leu587Leu, RYR2 p.Ala1873Ala, TTN p.Thr33028Ile. Mutation details
TTN28S1711Fc.5132C>Tp.Ser1711Phe 0/0 DCM also carries Y13026X I11772T S15463Gl R30577Q in TTN, A990V in VCL. Mutation details
TTN28P1744Lc.5231C>Tp.Pro1744Leu 0/0 DCM Also carries LAMA4 p.Arg690His, TTN p.Arg11967Cys p.Gly19815Arg p.Thr20826Met, CSRP3 p.Trp4Arg Mutation details
TTN28A1827Sc.5479G>Tp.Ala1827Ser 0/0 DCM Also carries R12535X, I10816_E10821del, I13750T in TTN, D2070N in DSP. Mutation details
TTN28R1861Hc.5582G>Ap.Arg1861His 0/0 DCM ACTN2 p.Thr412Met, MYH7 p.Ile724Asn, TTN p.Arg13564His p.Pro14315Ser p.Glu27925Gly p.Gln32642His p.Thr21822Ala p.Ser26653Ser p.Asn27144Asn p.Leu29758Leu, DSP c.1266+6G>T, PKP2 c.1171-11T>C, TNNT2 c.690-4G>T. Mutation details
TTN28I1899Ic.5697C>Tp.Ile1899= 0/0 DCM 1 patient also carries T335A in DSG2,c.407-14C>A in ABCC9,A897fsX900 in DSC2,K413K in DTNA. Mutation details
TTN28R1941Rc.5823A>Gp.Arg1941= 0/0 DCM Also carries TTN p.Gly3579Asp p.Glu17673Gln p.Cys5387Tyr c.23030-14_23030-10dupTTTGT p.Arg18073Gln p.Ala30197Gly Mutation details
TTN28R1998Hc.5993G>Ap.Arg1998His 0/0 DCM NM_133432.3 Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN28Y2010Cc.6029A>Gp.Tyr2010Cys 0/0 DCM Also carries ABCC9 p.Arg1506Cys, TTN c.1399-3C>T p.Val15661Met p.Thr19563Ala, LMNA p.Gly638Arg Mutation details
TTN28T2160Ac.6478A>Gp.Thr2160Ala 0/0 DCM   Mutation details
TTN30I2314Tc.6941T>Cp.Ile2314Thr 0/0 DCM Also carries V1451A in ABCC9, A462S in ACTN2,Asp364GlyfsX10 in CASQ2,R1458G in DSP,K10621E in TTN Mutation details
TTN34R2654Kc.7961G>Ap.Arg2654Lys 0/0 DCM Also carries TTN p.Ser15499Ser p.Thr20867Thr p.Asn21761Asp, TPM1 p.Asp58Asp. Mutation details
TTN41N3225Sc.9674A>Gp.Asn3225Ser 0/0 DCM Also carries ACTC1 p.Ile269Thr, MYBPC3 p.Arg238His, NEXN c.1053+1G>A, PKP2 p.Ser172Arg, TTN p.Asn3225Ser p.Ala3775Thr p.Gln4582Gln p.Ser18746Ser Mutation details
TTN44intronicc.10166-10G>C- 0/0 DCM NM_133437.3 Also carries DSP p.Ser2843_Arg2846del, MYH6 p.Tyr162Cys, ABCC9 p.Leu306Leu,DSG2 p.Asn182Ser,MYL3 c.130-14G>T,TTN p.Lys19758Arg Mutation details
TTN46I3543Vc.10627A>Gp.Ile3543Val 0/0 DCM NM_133437.3. Also carries TTN p.Gly20706Asp, RYR2 p.Asn3418Asn c.11880+13_11880+16delACTG, TTN c.30952+7C>T p.Val32286Leu Mutation details
TTN48P3520Lc.10559C>Tp.Pro3520Leu 0/0 DCM NM_133379.3 Also carries TTN p.Asn22275Asp p.Leu23382Phe p.Leu4732Leu p.Arg26725Cys Mutation details
TTN48Q4582Qc.13746A>Gp.Gln4582Gln 0/0 DCM NM_133379.3. Also carries ACTC1 p.Ile269Thr, MYBPC3 p.Arg238His, NEXN c.1053+1G>A, PKP2 p.Ser172Arg, TTN p.Asn3225Ser p.Ala3775Thr p.Ser18746Ser Mutation details
TTN48C4831Yc.14492G>Ap.Cys4831Tyr 0/0 DCM NM_133432.3 Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN48P5065Sc.15193C>Tp.Pro5065Ser 0/0 DCM NM_133379.3 Also carries MYH7 p.Ala279Thr, VCL p.Asp932Asp Mutation details
TTN48I5261Tc.15782T>Cp.Ile5261Thr 0/0 DCM NM_133379.3 Also carries TTN p.Asn31645Ser, DSG2 p.Val920Gly Mutation details
TTN49A3471Tc.10411G>Ap.Ala3471Thr 0/0 DCM NM_133437.3 Also carries PKP2 p.Ala474Thr, ANKRD1 c.208-15G>A, TTN p.Ser8413Leu. Mutation details
TTN49G3579Dc.10736G>Ap.Gly3579Asp 0/0 DCM NM_133432.3 Also carries TTN p.Glu17673Gln p.Arg1941Arg p.Cys5387Tyr c.23030-14_23030-10dupTTTGT p.Arg18073Gln p.Ala30197Gly Mutation details
TTN49V3598Mc.10792G>Ap.Val3598Met 0/0 DCM NM_133432.3 Also carries TAZ p.Gln70X, TTN c.32704+7_32704+10dupAATG p.Arg1012X p.Ile14220Thr p.Phe15186Leu. Mutation details
TTN49T3653Ic.10958C>Tp.Thr3653Ile 0/0 DCM NM_001256850.1 Also carries TTN p.Arg5979His p.Ser6016Tyr p.Pro9342Gln c.28823-12G>T p.Glu21559Lys p.Trp23370Ser p.Arg27006His, EMD p.Thr165Thr p.Arg7324Arg Mutation details
TTN49T3723Mc.11168C>Tp.Thr3723Met 0/0 DCM NM_133379.3 Also carries TPM1 p.Glu259Lys, TTN p.Thr3723Met p.Arg19067Cys, DTNA c.1086-8T>C, RYR2 p.Asp1862Asp. Mutation details
TTN49P3811Sc.11431C>Tp.Pro3811Ser 0/0 DCM NM_133432.3 Also carries DSC2 c.776-12T>G, RBM20 p.Pro393Pro p.Glu913Lys, ABCC9 c.2093-7T>C, MYH7 p.Ala1637Ala, TTN p.Ser5208Ser p.Asp14124Asp Mutation details
TTN49S3958Xc.11873C>Ap.Ser3958X 0/0 DCM NM_133432.3 Also carries MYH7 p.Leu1245Gln, TTN p.Glu9928dup Mutation details
TTN49G4382Dc.13145G>Ap.Gly4382Asp 0/0 DCM NM_133432.3 Carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN49Y4421Cc.13262A>Gp.Tyr4421Cys 0/0 DCM NM_133432.3 Also carries TTN c.50143+1G>A p.Ile24333Val, MYH7 p.Ile506Ile p.Thr5015Ser p.Arg13204Gln, TCAP p.Glu13del. Mutation details
TTN51D29049Ec.87147T>Ap.Asp29049Glu 0/0 DCM Also carries DES p.Leu136His, LAMP2 p.Thr196Ser, MYH7 c.1139-14C>T, MYOZ2 c.77-14A>G, FHL2 p.Val29Met, PKP2 p.Val587Ile, TTN p.Thr3713Ser Mutation details
TTN51D3601Dc.10803C>Tp.Asp3601= 0/0 DCM Also carries V487M in RBM20 Mutation details
TTN51N3649fsX3650c.10943delAp.Glu3649Asnfs*2 0/0 DCM Also carries MYBPC3 p.Arg1002Gln, RBM20 p.Arg703Lys, TTN p.Asp6218Glu p.Tyr23103Tyr, TMEM43 p.Val17Val Mutation details
TTN51T3713Sc.11138C>Gp.Thr3713Ser 0/0 DCM N=2 1 patient also carries DES p.Leu136His, LAMP2 p.Thr196Ser, MYH7 c.1139-14C>T, MYOZ2 c.77-14A>G, FHL2 p.Val29Met, PKP2 p.Val587Ile, TTN p.Thr3713Ser p.Asp29049Glu. 1 patient also carries TTN p.Asp29049Glu. Mutation details
TTN51T4936Sc.14806A>Tp.Thr4936Ser 0/0 DCM NM_133379.3 Also carries TTN p.Asn20586LysfsX14 p.Asn7735His p.Met13395Val p.Tyr15596His p.Thr455Thr p.Lys6463Lys p.Thr24467Thr, LDB3 p.Gln512Pro. Mutation details
TTN52P3751Rc.11252C>Gp.Pro3751Arg 0/0 DCM N=3 1 patient also carries p.Ser23240GlnfsX19 p.Arg21595His p.Val4191Met in TTN, p.Val391Ile in LAMP2, c.9067+12C>T in RYR2. 1 patient also carries p.Met21493Thr p.Val4191Met in TTN. 1 patient also carries p.Val4191Met in TTN. Mutation details
TTN52V3816Ic.11446G>Ap.Val3816Ile 0/0 DCM Also carries DSP p.Ala1584Thr, NEXN p.Glu470del, SGCD p.Ser280Tyr, DSG2 p.Val158Val, NEXN p.Arg279Cys, TTN p.Ala8736Thr p.Gly16402Gly p.Pro24793Ala p.Arg26725Cys,TTR c.*3_*11delGACTTCTCC. Mutation details
TTN53L3879delc.11637_11639delGTTp.Leu3879del 0/0 DCM Also carries ACTC1 p.Asp3His, TTN p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Asp17001Asn p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu, MYBPC3 p.Val896Met. Mutation details
TTN54I3956Fc.11866A>Tp.Ile3956Phe 0/0 DCM N=3 1 patient also carries TTN p.His16764ProfsX18, ABCC9 p.Gly453Ala. 1 patient also carries MYH7 p.Thr544Ala, TMEM43 p.Ser209Ala, TTN p.Pro5422Ala. 1 patient also carries ABCC9 c.2093-7T>C, JUP p.Tyr297Tyr. Mutation details
TTN56V4191Mc.12571G>Ap.Val4191Met 0/0 DCM, N=3 1 patient also carries p.Pro3751Arg and p.Met21493Thr in TTN. 1 patient also carries p.Val4191Met in TTN. 1 patient also carries p.Ser23240GlnfsX19 p.Arg21595His p.Pro3751Arg in TTN, p.Val391Ile in LAMP2, c.9067+12C>T in RYR2. Mutation details
TTN56K4194Rc.12581A>Gp.Lys4194Arg 0/0 DCM Also carries LMNA p.Leu587Leu, RYR2 p.Ala1873Ala, TTN p.Gly1345Asp p.Thr33028Ile Mutation details
TTN57Y4266Cc.12797A>Gp.Tyr4266Cys 0/0 DCM Also carries ANKRD1 p.Ser187Phe, DSP p.Asn956Tyr, TTN p.Val8466Ile p.Thr19946Thr p.Arg9774Gln p.Thr23012Met, RBM20 p.Arg1057Gln Mutation details
TTN59Intronicc.13451-9T>C- 0/0 DCM N=2 1 patient also carries c.13451-9T>C R30180H in TTN, V920G in DSG2. Mutation details
TTN61K4646Ec.13936A>Gp.Lys4646Glu 0/0 DCM N=3 1 patient also carries T150P in LMNA, Y281C in LAMP2, c.91+14T>C in TTN. 1 patient also carries N597K in MYH7, P1535P in RYR2, R13340H S20658G in TTN. 1 patient also carries K5510E V18643A R13340H S20658G in TTN,T496T in DSP. Mutation details
TTN62L4732Lc.14196G>Ap.Leu4732= 0/0 DCM Also carries TTN p.Pro3520Leu p.Asn22275Asp p.Leu23382Phe p.Arg26725Cys Mutation details
TTN65E4977Dc.14931A>Cp.Glu4977Asp 0/0 DCM Also carries ANKRD1 p.Arg66Gln, TNNT2 p.Ala177Asp, TTN c.92468-10_92468-9insT p.Pro10102Pro p.Thr869Ser p.Thr29479Met, DSP p.Asp782Asp, NEXN p.Glu332Ala, RYR2 p.Glu920Glu Mutation details
TTN65T5015Sc.15044C>Gp.Thr5015Ser 0/0 DCM Also carries TTN c.50143+1G>A p.Tyr4421Cys p.Ile24333Val p.Arg13204Gln, MYH7 p.Ile506Ile, TCAP p.Glu13del Mutation details
TTN65N5031Sc.15092A>Gp.Asn5031Ser 0/0 DCM Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN66Y5095Hc.15283T>Cp.Tyr5095His 0/0 DCM Also carries DSP p.Asp203Asn, MYBPC3 p.Arg1228Cys, RBM20 p.Asp888Asn, JUP c.708-4C>G, LAMA4 c.1056+8_1056+9insT Mutation details
TTN67P5140Tc.15418C>Ap.Pro5140Thr 0/0 DCM Also carries LMNA p.Arg225X, ABCC9 c.407-14C>A,TTN p.Arg15131His Mutation details
TTN67S5208Sc.15624C>Tp.Ser5208= 0/0 DCM Also carries DSC2 c.776-12T>G, RBM20 p.Glu913Lys p.Pro393Pro, TTN p.Pro3811Ser p.Asp14124Asp, ABCC9 c.2093-7T>C, MYH7 p.Ala1637Ala. Mutation details
TTN70P5422Ac.16264C>Gp.Pro5422Ala 0/0 DCM Also carries MYH7 p.Thr544Ala, TMEM43 p.Ser209Ala, TTN p.Ile3956Phe Mutation details
TTN70I5481Mc.16443A>Gp.Ile5481Met 0/0 DCM Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN70K5510Ec.16528A>Gp.Lys5510Glu 0/0 DCM Also carries DSP p.Thr496Thr, TTN p.Val18643Ala p.Lys4646Glu p.Arg13340His p.Pro18799Pro p.Ser20658Gly Mutation details
TTN72F5670Lc.17010T>Ap.Phe5670Leu 0/0 DCM Also carries TTN p.Tyr13023X p.Glu24427Lys p.Arg15131His, MYH6 c.2928+5G>A, PRKAG2 c.1106+9G>C Mutation details
TTN72K5680Kc.17040G>Ap.Lys5680= 0/0 DCM also carries A110T in MYH6, E7030K K12568N V32286L in TTN Mutation details
TTN74G5814Dc.17441G>Ap.Gly5814Asp 0/0 DCM Also carries RBM20 p.Thr177Ser, DSG2 p.Ser351Gly c.1652-12C>T, PKP2 p.Ala236Ser,TTN p.Leu9540Val p.Lys15950Arg c.88606+11T>C c.90979+7G>C Mutation details
TTN75R5979Hc.17936G>Ap.Arg5979His 0/0 DCM Also carries TTN p.Arg7324Arg p.Thr3653Ile p.Ser6016Tyr p.Pro9342Gln c.28823-12G>T p.Glu21559Lys p.Trp23370Ser p.Arg27006His, EMD p.Thr165Thr Mutation details
TTN76S6016Yc.18047C>Ap.Ser6016Tyr 0/0 DCM Also carries TTN p.Thr3653Ile p.Arg5979His p.Pro9342Gln c.28823-12G>T p.Glu21559Lys p.Trp23370Ser p.Arg27006His p.Arg7324Arg, EMD p.Thr165Thr Mutation details
TTN77Splicec.18509-5T>Cr.spl? 0/0 DCM Also carries RBM20 p.Pro1089Ala, TMEM43 p.Ala174Thr, TTN p.Val7271Val p.Asp20190Asn, JUP p.Val648Ile, MYBPC3 p.Val189Ile Mutation details
TTN77R6120Wc.18358C>Tp.Arg6120Trp 0/0 DCM   Mutation details
TTN78D6218Ec.18654T>Gp.Asp6218Glu 0/0 DCM Also carries MYBPC3 p.Arg1002Gln, RBM20 p.Arg703Lys, TTN p.Asp3648ValfsX22 p.Tyr23103Tyr, TMEM43 p.Val17Val Mutation details
TTN79R6301Qc.18902G>Ap.Arg6301Gln 0/0 DCM Also carries TTN p.Glu8341Ala, CAV3 p.Thr78Met, MYLK2 p.Pro261Pro, TNNI3 c.12-7delC Mutation details
TTN80intronicc.19366+15G>T- 0/0 DCM Also carries MYH7 p.Glu1286Lys p.Gln1471X, PKP2 p.Glu58Asp p.Arg101His, TTN p.Glu9928dup p.Glu10667Lys p.Asn27640Asn, RBM20 p.Glu1125Lys Mutation details
TTN81K6463Kc.19389G>Ap.Lys6463= 0/0 DCM Also carries TTN p.Asn20586LysfsX14,LDB3 p.Gln512Pro, TTN p.Thr4936Ser p.Asn7735His p.Met13395Val p.Tyr15596His p.Thr455Thr p.Thr24467Thr Mutation details
TTN81S6482Lc.19445C>Tp.Ser6482Leu 0/0 DCM N=4 1 patient also carries R315C in DSP, A717T in ABCC9,W261R in CASQ2 E1179K in MYBPC3,R1396R in MYH7, D12542N in TTN. 1 patient also carries V2113M R1051R in RYR2,T78M in CAV3,D12542N in TTN, T139M in TTR. 1 patient also carries V648I in JUP, D12542N in TTN. 1 patient also carries c.*13G>T in LDB3, R148R in CAV3, K897fsX900 in DSC2,H296H in PKP2,D12542N in TTN. Mutation details
TTN81N6500Kc.19500C>Gp.Asn6500Lys 0/0 DCM Also carries MYH6 p.Val418Met. TTN c.26492-8T>G p.Ile15812Thr c.92468-10_92468-9insT, RYR2 p.Ser1712Ser Mutation details
TTN82F6602Lc.19806C>Gp.Phe6602Leu 0/0 DCM Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN84S6806Sc.20418C>Tp.Ser6806= 0/0 DCM carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN85S6871Nc.20612G>Ap.Ser6871Asn 0/0 DCM Also carries TTN p.Pro9369Ala p.Ser28732Ser, ACTN2 p.Pro856Pro, LAMA4 p.Glu451Glu p.Glu930Gly, MYH7 p.Ala1012Ala Mutation details
TTN86V6938Vc.20814T>Ap.Val6938= 0/0 DCM Also carries TTN c.29156-3C>A p.Thr799Thr, LDB3 p.Ser474Ser, RBM20 c.1881-3C>T. Mutation details
TTN86S6959Sc.20877C>Tp.Ser6959= 0/0 DCM Also carries LMNA p.Ile299Val, RYR2 c.11880+13_11880+16delACTG, TTN c.23030-14_23030-10dupTTTGT p.Arg11967Cys Mutation details
TTN87E7030Kc.21088G>Ap.Glu7030Lys 0/0 DCM Also carries A110T in MYH6, K5680K K12568N V32286L in TTN. Mutation details
TTN87K7081Ec.21241A>Gp.Lys7081Glu 0/0 DCM Also carries VCL p.Arg105X, LAMA4 p.Gln873His, RYR2 p.Arg1051His, TTN p.Arg15488Gln, LDB3 p.Val118Met, RBM20 c.2655+15A>G Mutation details
TTN87S7103Sc.21309T>Cp.Ser7103= 0/0 DCM Also carries TTN p.Ala7105Gly p.Asp22990Val p.Lys30369Glu p.Asp7342Asp, TCAP p.Arg106Cys Mutation details
TTN87A7105Gc.21314C>Gp.Ala7105Gly 0/0 DCM Also carries TTN p.Asp22990Val p.Lys30369Glu p.Ser7103Ser p.Asp7342Asp,TCAP p.Arg106Cys Mutation details
TTN89R7253Hc.21758G>Ap.Arg7253His 0/0 DCM Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN89V7271Vc.21813T>Cp.Val7271= 0/0 DCM RBM20 p.Pro1089Ala, TMEM43 p.Ala174Thr, TTN c.18509-5T>C p.Asp20190Asp,JUP p.Val648Ile, MYBPC3 p.Val189Ile Mutation details
TTN90R7324Rc.21972G>Ap.Arg7324= 0/0 DCM Also carries TTN p.Thr3653Ile p.Arg5979His p.Ser6016Tyr p.Pro9342Gln c.28823-12G>T p.Glu21559Lys p.Trp23370Ser p.Arg27006His, EMD p.Thr165Thr Mutation details
TTN90D7342Dc.22026C>Tp.Asp7342= 0/0 DCM Also carries TTN p.Ala7105Gly p.Asp22990Val p.Lys30369Glu p.Ser7103Ser,TCAP p.Arg106Cys Mutation details
TTN93intronicc.23030-14_23030-10dupTTTGT- 0/0 DCM, N=4 1 patient also carries LMNA p.Gln255ArgfsX225,TTN p.Gln19659Gln. 1 patient also carries TAZ p.Gly240Arg,LAMA4 p.Val1308Ile,PKP2 p.Arg158Lys,TTN p.Pro10000Pro. 1 patient also carries LMNA p.Ile299Val, RYR2 c.11880+13_11880+16delACTG,TTN p.Ser6959Ser p.Arg11967Cys. 1 patient also carries TTN p.Gly3579Asp p.Glu17673Gln p.Arg1941Arg p.Cys5387Tyr p.Arg18073Gln p.Ala30197Gly. Mutation details
TTN93T7599Mc.22796C>Tp.Thr7599Met 0/0 DCM also carries TTN p.Gln31749X p.Ala21043Val, TCAP p.Arg158Ser. Mutation details
TTN94R7678Qc.23033G>Ap.Arg7678Gln 0/0 DCM Also carries TTN p.Ile16571Leu Mutation details
TTN94N7735Hc.23203A>Cp.Asn7735His 0/0 DCM also carries TTN p.Asn20586LysfsX14, LDB3 p.Gln512Pro, TTN p.Thr4936Ser p.Met13395Val p.Tyr15596His p.Thr455Thr p.Lys6463Lys p.Thr24467Thr Mutation details
TTN96S7922Sc.23766G>Ap.Ser7922= 0/0 DCM, age 34 Also carries D888N, T910P, c.2655+15A>G in RBM20 Mutation details
TTN101E8341Ac.25022A>Cp.Glu8341Ala 0/0 DCM Also carries CAV3 p.Thr78Met, MYLK2 p.Pro261Pro, TNNI3 c.12-7delC, TTN p.Arg6301Gln Mutation details
TTN101S8413Lc.25238C>Tp.Ser8413Leu 0/0 DCM Also carries PKP2 p.Ala474Thr, ANKRD1 c.208-15G>A, TTN p.Ala3471Thr Mutation details
TTN102V8466Ic.25396G>Ap.Val8466Ile 0/0 DCM Also carries ANKRD1 p.Ser187Phe, DSP p.Asn956Tyr, TTN p.Arg9774Gln p.Thr23012Metp.Tyr4266Cys p.Thr19946Thr, RBM20 p.Arg1057Gln. Mutation details
TTN104intronicc.25873-12T>C- 0/0 DCM Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN106intronicc.26231-13A>G- 0/0 DCM Also carries R673W R1008W in RBM20. Mutation details
TTN106A8736Tc.26206G>Ap.Ala8736Thr 0/0 DCM Also carries DSP p.Ala1584Thr, NEXN p.Arg279Cys p.Glu470del, SGCD p.Ser280Tyr,DSG2 p.Val158Val, TTN p.Val3816Ile p.Gly16402Gly p.Pro24793Ala p.Arg26725Cys, TTR c.*3_*11delGACTTCTCC Mutation details
TTN107intronicc.26492-8T>G- 0/0 DCM Also carries MYH6 p.Val418Met, TTN p.Asn6500Lys c.92468-10_92468-9insT p.Ile15812Thr, RYR2 p.Ser1712Ser Mutation details
TTN108D8884Dc.26652T>Cp.Asp8884= 0/0 DCM Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN114intronicc.27071-15C>T- 0/0 DCM Also carries DSC2 p.Val816Met, LDB3 p.Ala442_Pro449del p.Val491Glu, TTN p.Asn7647Ser p.Cys30763Arg p.Ser32508Ser, CAV3 p.Pro48Pro p.Ala102Al, MYL3 c.482-14C>A c.559+6C>T, SGCD p.Leu41Leu Mutation details
TTN118V9223Ic.27667G>Ap.Val9223Ile 0/0 DCM Also carries I2770T in RYR2, R27628fsX27721 in TTN, D313Y in GLA, I252S in LAMP2. Mutation details
TTN122P9342Qc.28025C>Ap.Pro9342Gln 0/0 DCM also carries TTN p.Thr3653Ile p.Arg5979His p.Ser6016Tyr c.28823-12G>T p.Glu21559Lys p.Trp23370Ser p.Arg27006His p.Arg7324Arg, EMD p.Thr165Thr Mutation details
TTN123P9369Ac.28105C>Gp.Pro9369Ala 0/0 DCM also carries TTN p.Ser6871Asn p.Ser28732Ser, ACTN2 p.Pro856Pro, LAMA4 p.Glu451Glu p.Glu930Gly, MYH7 p.Ala1012Ala. Mutation details
TTN129L9540Vc.28618C>Gp.Leu9540Val 0/0 DCM also carries RBM20 p.Thr177Ser, DSG2 p.Ser351Gly c.1652-12C>T, PKP2 p.Ala236Ser, TTN p.Gly5814Asp p.Lys15950Arg c.88606+11T>C c.90979+7G>C Mutation details
TTN131Intronicc.28823-12G>T- 0/0 DCM also carries TTN p.Thr3653Ile p.Arg5979His p.Ser6016Tyr p.Pro9342Gln p.Glu21559Lys p.Trp23370Ser p.Arg27006His p.Arg7324Arg, EMD p.Thr165Thr. Mutation details
TTN131A9583Vc.28748C>Tp.Ala9583Val 0/0 DCM also carries ABCC9 p.Thr667Lys, TTN p.Pro28158Ser p.Val3816Leu Mutation details
TTN132P9631Lc.28892C>Tp.Pro9631Leu 0/0 DCM 1 patient also carries A29528T I2716fsX2724 P18487 in TTN, c.1574+14G>T in DSP, D26N in PKP2. 1 patient also carries D132N in TNNC1, E1122 in RBM20,Y11409 R13163C in TTN. Mutation details
TTN135Splicec.29156-3C>Ar.spl? 0/0 DCM also carries LDB3 p.Ser474Ser, RBM20 c.1881-3C>T, TTN p.Thr799Thr p.Val6938Val Mutation details
TTN136R9774Qc.29321G>Ap.Arg9774Gln 0/0 DCM also carries ANKRD1 p.Ser187Phe, DSP p.Asn956Tyr, TTN p.Arg9774Gln p.Thr23012Met p.Tyr4266Cys p.Val8466Ile p.Thr19946Thr, RBM20 p.Arg1057Gln Mutation details
TTN141E9928dupc.29781_29783dupAGAp.Glu9928dup 0/0 DCM N=4 1 patient also carries DSP c.939+1G>A p.Gly2832Val, RYR2 p.Asn4514Ser,TTR p.Thr139Met. 1 patient also carries MYH7 p.Glu1286Lys p.Gln1471X, PKP2 p.Arg101His, TTN p.Glu10667Lys, PKP2 p.Glu58Asp c.19366+15G>T p.Asn27640Asn, RBM20 p.Glu1125Lys. 1 patient also carries MYH7 p.Leu1245Gln, TTN p.Ser3958X. 1 patient also carries MYBPC3 p.Thr957Ser, TTN p.Glu9928dup p.Ile16994Val. Mutation details
TTN143P10000Pc.30000G>Ap.Pro10000= 0/0 DCM, age 10 Clinical diagnosis and family history of infantile DCM. Also carries G240R in TAZ,R158K in PKP2, V1308I in LAMA4, c.23030-14_23030-10dupTTTGT in TTN. Mutation details
TTN147P10102Pc.30306T>Gp.Pro10102= 0/0 DCM also carries ANKRD1 p.Arg66Gln, TNNT2 p.Ala177Asp , TTN p.Thr869Ser p.Glu4977Asp p.Thr29479Met c.92468-10_92468-9insT,DSP p.Asp782Asp, NEXN p.Glu332Ala, RYR2 p.Glu920Glu Mutation details
TTN151E10221Dc.30663A>Cp.Glu10221Asp 0/0 DCM Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN154splicec.30952+7C>Tr.spl? 0/0 DCM also carries TTN p.Ile3543Val p.Val32286Leu p.Gly20706Asp RYR2 p.Asn3418Asn c.11880+13_11880+16delACTG Mutation details
TTN183P10574Sc.31720C>Tp.Pro10574Ser 0/0 DCM Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN203P10595Tc.31783C>Ap.Pro10595Thr 0/0 DCM also carries DSP p.Gln2295His, RYR2 p.Pro1535Pro, TMEM43 c.297+13G>A, TTN p.His17066His p.Pro17413Pro p.Val24189Val Mutation details
TTN204K10621Ec.31861A>Gp.Lys10621Glu 0/0 DCM Also carries V1451A in ABCC9, A462S in ACTN2,Asp364GlyfsX10 in CASQ2,R1458G in DSP,I2314T in TTN Mutation details
TTN206E10667Kc.31999G>Ap.Glu10667Lys 0/0 DCM Also carries MYH7 p.Glu1286Lys p.Gln1471X, PKP2 p.Arg101His p.Glu58Asp, TTN p.Glu9928dup p.Glu10667Lys,RBM20 p.Glu1125Lys,TTN c.19366+15G>T p.Asn27640Asn Mutation details
TTN211I10816_E10821delc.32447_32464delp.Ile10816_Glu10821del 0/0 DCM Also carries R12535X, A1827S, I13750T in TTN, D2070N in DSP. Mutation details
TTN219intronicc.32704+7_32704+10dupAATG- 0/0 DCM also carries TAZ p.Gln70X, TTN p.Arg1012X p.Val3598Met p.Ile14220Thr p.Phe15186Leu Mutation details
TTN228S11303fsX11309c.33906delAp.Val11303SerfsX7 0/0 DCM Also carrie S642 in MYH7, E1125K in RBM20,P717 in TTN Mutation details
TTN229Y11409Yc.34227T>Cp.Tyr11409= 0/0 DCM Also carries D132N in TNNC1, E1122 in RBM20, P9631L R13163C in TTN. Mutation details
TTN231V11542Ac.34625T>Cp.Val11542Ala 0/0 DCM Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN232M11602Tc.34805T>Cp.Met11602Thr 0/0 DCM also carries LAMA4 c.4455-3C>A,JUP p.Val648Ile, RYR2 p.Asp1375Asp Mutation details
TTN234I11772Tc.35315T>Cp.Ile11772Thr 0/0 DCM also carries Y13026X S1711F S15463G R30577Q in TTN, A990V in VCL. Mutation details
TTN236C5387Yc.16160G>Ap.Cys5387Tyr 0/0 DCM also carries TTN p.Gly3579Asp p.Glu17673Gln p.Arg1941Arg c.23030-14_23030-10dupTTTGT p.Arg18073Gln p.Ala30197Gly Mutation details
TTN237R11967Cc.35899C>Tp.Arg11967Cys 0/0 DCM N=2 1 patient also carries I299V in LMNA ,c.11880+13_11880+16delACTG in RYR2, c.23030-14_23030-10dupTTTGT S6959S in TTN. 1 patient also carries R690H in LAMA4, G19815R T20826M P1744L in TTN, W4R in CSRP3. Mutation details
TTN238Y12019Yc.36057T>Cp.Tyr12019= 0/0 DCM also carries RBM20 p.Arg716Gln, TPM1 p.Glu40X, PLN p.Arg9Arg, RYR2 c.11880+13_11880+16delACTG, TTN p.Tyr12019Tyr Mutation details
TTN241T12221fsX12235c.36660delCp.Tyr12221ThrfsX15 0/0 DCM age 58 Also carrie I577V in DSC2 Mutation details
TTN243V12296Vc.36888C>Tp.Val12296= 0/0 DCM Also carries G65S S6 in DES, H1259 in MYH7,S22136 in TTN. Mutation details
TTN246A12491Tc.37471G>Ap.Ala12491Thr 0/0 DCM Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN246R12535Xc.37603C>Tp.Arg12535X 0/0 DCM Also carries A1827S, I10816_E10821del I13750T in TTN, D2070N in DSP. Mutation details
TTN246D12542Nc.37624G>Ap.Asp12542Asn 0/0 DCM, N=4 1 patient also carries R315C in DSP, R547X in VCL,W13903C in TTN. 1 patient also carries V2113M R1051R in RYR2,T78M in CAV3,S6482L,T139M in TTR. 1 patient also carries V648I in JUP,S6482L in TTN. 1 patient also carries c.*13G>T in LDB3,R148R in CAV3, A897fsX900 in DSC2, H296H in PKP2, S6482L in TTN. Mutation details
TTN247K12568Nc.37704G>Tp.Lys12568Asn 0/0 DCM N=2 1 patient also carries A110T in MYH6, K5680K E7030K V32286L in TTN. 1 patient also carries V1014I in DSG2, E290K in LMNA,V32286L in TTN. Mutation details
TTN249V12789fsX12792c.38365_38366delATp.Met12789ValfsX4 0/0 DCM age 33 Also carries c.11880+13_11880+16delACTG in RYR2 Mutation details
TTN250G12895Rc.38683G>Ap.Gly12895Arg 0/0 DCM   Mutation details
TTN252Y13026Xc.39078C>Ap.Tyr13026X 0/0 DCM 1 patient also carries S1711F I11772T S15463G R30577Q in TTN, A990V in VCL. Mutation details
TTN252Y13023Xc.39069T>Ap.Tyr13023X 0/0 DCM,age 46 also carries F5670L E24427K R15131H in TTN, c.2928+5G>A in MYH6,c.1106+9G>C in PRKAG2. Mutation details
TTN252A13059Vc.39176C>Tp.Ala13059Val 0/0 DCM also carries TTN p.Val19732Ile p.Ser33301Gly p.Glu32221Lys p.Ala32493Ala Mutation details
TTN253R13163Cc.39487C>Tp.Arg13163Cys 0/0 DCM Also carries D132N in TNNC1, E1122 in RBM20, P9631L Y11409 in TTN. Mutation details
TTN254R13204Qc.39611G>Ap.Arg13204Gln 0/0 DCM also carries TTN c.50143+1G>A p.Thr5015Ser p.Arg13204Gln p.Tyr4421Cys p.Ile24333Val, TCAP p.Glu13del,MYH7 p.Ile506Ile Mutation details
TTN254P13281Tc.39841C>Ap.Pro13281Thr 0/0 DCM carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN255R13340Hc.40019G>Ap.Arg13340His 0/0 DCM N=2 1 patient also carries MYH7 p.Asn597Lys, RYR2 p.Pro1535Pro, TTN p.Lys4646Glu p.Ser20658Gly. 1 patient also carries DSP p.Thr496Thr, TTN p.Lys5510Glu p.Val18643Ala p.Lys4646Glu p.Pro18799Pro p.Ser20658Gly Mutation details
TTN257M13395Vc.40183A>Gp.Met13395Val 0/0 DCM also carries TTN p.Asn20586LysfsX14 p.Thr4936Ser p.Asn7735His p.Met13395Val p.Tyr15596His p.Thr455Thr p.Lys6463Lys p.Thr24467Thr, LDB3 p.Gln512Pro. Mutation details
TTN259R13564Hc.40691G>Ap.Arg13564His 0/0 DCM also carries ACTN2 p.Thr412Met, MYH7 p.Ile724Asn, TTN p.Arg1861His p.Arg13564His p.Pro14315Ser p.Glu27925Gly p.Gln32642His p.Thr21822Ala p.Ser26653Ser p.Asn27144Asn p.Leu29758Leu, DSP c.1266+6G>T, PKP2 c.1171-11T>C, TNNT2 c.690-4G>T. Mutation details
TTN262I13750Tc.41249T>Cp.Ile13750Thr 0/0 DCM Also carries R12535X, A1827S, I10816_E10821del in TTN, D2070N in DSP. Mutation details
TTN264L13889Lc.41667A>Tp.Leu13889= 0/0 DCM Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN264W13903Cc.41709G>Tp.Trp13903Cys 0/0 DCM Also carries R547X in VCL, R315C in DSP. Mutation details
TTN266S14072Tc.42215G>Cp.Ser14072Thr 0/0 DCM Carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN267D14124Dc.42372C>Tp.Asp14124= 0/0 DCM also carries DSC2 c.776-12T>G, RBM20 p.Glu913Lys p.Pro393Pro p.Ser5208Ser, TTN p.Pro3811Ser, ABCC9 c.2093-7T>C, MYH7 p.Ala1637Ala. Mutation details
TTN269R14217Rc.42651A>Gp.Arg14217= 0/0 DCM Also carries D605N in MYBPC3, L955del in VCL,K3187R L4402 in RYR2. Mutation details
TTN269G14227Gc.42681T>Cp.Gly14227= 0/0 DCM Also carries Y26640F in TTN Mutation details
TTN269I14220Tc.42659T>Cp.Ile14220Thr 0/0 DCM also carries TAZ p.Gln70X, TTN c.32704+7_32704+10dupAATG p.Arg1012X p.Val3598Met p.Ile14220Thr p.Phe15186Leu. Mutation details
TTN270P14315Sc.42943C>Tp.Pro14315Ser 0/0 DCM also carries ACTN2 p.Thr412Met, MYH7 p.Ile724Asn, TTN p.Arg1861His p.Arg13564His p.Pro14315Ser p.Glu27925Gly p.Gln32642His p.Thr21822Al p.Ser26653Ser p.Asn27144Asn p.Leu29758Leu, DSP c.1266+6G>T, PKP2 c.1171-11T>C, TNNT2 c.690-4G>T Mutation details
TTN278R15131Hc.45392G>Ap.Arg15131His 0/0 DCM,N=3 1 patient also carries p.Arg225X in LMNA, P5140T in TTN, c.407-14C>A in ABCC9. 1 patient also carries Y13023X F5670L E24427K in TTN,c.2928+5G>A in MYH6, c.1106+9G>C in PRKAG2. 1 patient also carries I112 in CAV3, V648I in JUP. Mutation details
TTN278F15186Lc.45556T>Cp.Phe15186Leu 0/0 DCM also carries TAZ p.Gln70X, TTN c.32704+7_32704+10dupAATG p.Arg1012X p.Val3598Met p.Ile14220Thr p.Phe15186Leu. Mutation details
TTN281S15463Gc.46387A>Gp.Ser15463Gly 0/0 DCM also carries Y13026X I11772T S1711F R30577Q in TTN, A990V in VCL. Mutation details
TTN281R15488Qc.46463G>Ap.Arg15488Gln 0/0 DCM carries R105X in VCL, Q873H in LAMA4, R1051H in RYR2, V118M in LDB3,c.2655+15A>G RBM20. Mutation details
TTN282S15499Sc.46497C>Tp.Ser15499= 0/0 DCM also carries TTN p.Asn21761Asp p.Arg2654Lys p.Thr20867Thr, TPM1 p.Asp58Asp. Mutation details
TTN283Y15596Hc.46786T>Cp.Tyr15596His 0/0 DCM also carries TTN p.Asn20586LysfsX14 p.Thr4936Ser p.Asn7735His p.Met13395Val p.Thr455Thr p.Lys6463Lys p.Thr24467Thr,LDB3 p.Gln512Pro Mutation details
TTN283V15661Mc.46981G>Ap.Val15661Met 0/0 DCM also carries ABCC9 p.Arg1506Cys, TTN c.1399-3C>T p.Tyr2010Cys p.Thr19563Ala, LMNA p.Gly638Arg Mutation details
TTN285I15812Tc.47435T>Cp.Ile15812Thr 0/0 DCM also carries MYH6 p.Val418Met, TTN p.Asn6500Lys c.92468-10_92468-9insT c.26492-8T>G, RYR2 p.Ser1712Ser. Mutation details
TTN288K15950Rc.47849A>Gp.Lys15950Arg 0/0 DCM also carries RBM20 p.Thr177Ser, DSG2 p.Ser351Gly c.1652-12C>T, PKP2 p.Ala236Ser, TTN p.Gly5814Asp p.Leu9540Val p.Lys15950Arg c.88606+11T>C c.90979+7G>C Mutation details
TTN289L16074Qc.48221T>Ap.Leu16074Gln 0/0 DCM 1 patient also carries ABCC9 p.Tyr754Tyr. 1 patient also carries TTN p.Lys27354Asn p.Arg31678His, VCL c.2746-14C>T Mutation details
TTN292G16402c.49206C>Tp.Gly16402Gly 0/0 DCM Also carries DSP p.Ala1584Thr, NEXN p.Glu470del p.Arg279Cys, SGCD p.Ser280Tyr,DSG2 p.Val158Val,TTN p.Ala8736Thr p.Val3816Ile p.Pro24793Ala p.Arg26725Cys, TTR c.*3_*11delGACTTCTCC Mutation details
TTN294E16504fsX16515c.49511delGp.Gly16504GlufsX12 0/0 DCM Also carries p.Asn593Ser in DSP, p.Ser573Leu in LMNA, p.Gly24241Ser p.Trp25607Arg in TTN, p.Val648Ile in JUP, p.Arg106Cys in TCAP Mutation details
TTN295I16571Lc.49711A>Cp.Ile16571Leu 0/0 DCM also carries R7678Q in TTN Mutation details
TTN296I16648Ic.49944C>Tp.Ile16648= 0/0 DCM Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN296splicec.50143+1G>Ar.spl? 0/0 DCM also carries TTN p.Thr5015Ser p.Arg13204Gln p.Tyr4421Cys p.Ile24333Val, TCAP p.Glu13del, MYH7 p.Ile506Ile Mutation details
TTN297P16764fsX16781c.50291delAp.His16764ProfsX18 0/0 DCM N=3 1 patient carries also R1472H in LAMA4, T492I in LBD3, L34 in MYLK2, V18752 in TTN. 1 patient carries also G453A in ABCC9, I3956F in TTN. 1 patient carries also V16592I in TTN. Mutation details
TTN299I16994Vc.50980A>Gp.Ile16994Val 0/0 DCM also carries MYBPC3 p.Thr957Ser, TTN p.Glu9928dup. Mutation details
TTN299D17001Nc.51001G>Ap.Asp17001Asn 0/0 DCM Also carries also carries ACTC1 p.Asp3His,MYBPC3 p.Val896Met, TTN p.Cys4831Tyr p.Gly4382Asp p.Leu3879del p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Asp17001Asn p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN300H17066Hc.51198T>Cp.His17066His 0/0 DCM Also carries DSP p.Gln2295His, TTN p.Pro10595Thr p.Pro17413Pro p.Val24189Val, RYR2 p.Pro1535Pro, TMEM43 c.297+13G>A. Mutation details
TTN300G17093Dc.51278G>Ap.Gly17093Asp 0/0 DCM Also carries PRKAG2 p.Ser207Cys, TTN p.Arg29465His p.Arg29765His, LAMA4 c.196-9C>T p.Val977Ile Mutation details
TTN304P17413Pc.52239C>Ap.Pro17413= 0/0 DCM Also carries DSP p.Gln2295His, TTN p.Pro10595Thr p.His17066His p.Val24189Val, RYR2 p.Pro1535Pro, TMEM43 c.297+13G>A. Mutation details
TTN305E17673Qc.53017G>Cp.Glu17673Gln 0/0 DCM Also carries TTN p.Gly3579Asp p.Glu17673Gln p.Arg1941Arg p.Cys5387Tyr c.23030-14_23030-10dupTTTGT p.Arg18073Gln p.Ala30197Gly Mutation details
TTN305E18196Qc.54586G>Cp.Glu18196Gln 0/0 DCM Also carries FHL2 p.Arg131Cys,CAV3 c.115-13G>C, RYR2 p.Tyr125Tyr, TNNI3 c.550-10C>T Mutation details
TTN 305G18227Gc.54681C>Ap.Gly18227= 0/0 DCM also carries D22047fsX22055 in TTN, A65 in PKP2, R872C in MYH6, T139M in TTR. Mutation details
TTN305R18359Hc.55076G>Ap.Arg18359His 0/0 DCM  Mutation details
TTN305P18487Pc.55461G>Ap.Pro18487= 0/0 DCM, age 28 Also carries A29528T, P9631L, I2716fsX2724 in TTN, c.1574+14G>T in DSP, D26N in PKP2 Mutation details
TTN307V18643Ac.55928T>Cp.Val18643Ala 0/0 DCM Also carries TTN p.Lys5510Glu p.Lys4646Glu p.Arg13340His p.Pro18799Pro p.Ser20658Gly, DSP p.Thr496Thr Mutation details
TTN308S18746Sc.56238G>Ap.Ser18746= 0/0 DCM Also carries ACTC1 p.Ile269Thr, MYBPC3 p.Arg238His, NEXN c.1053+1G>A, PKP2 p.Ser172Arg, TTN p.Asn3225Ser p.Ala3775Thr p.Gln4582Gln Mutation details
TTN308V18752Vc.56256T>Ap.Val18752= 0/0 DCM Also carries TTN p.His16764ProfsX18 p.Val18752Val, LAMA4 p.Arg1472Hi, LDB3 p.Thr492Ile, MYLK2 p.Lys34Lys Mutation details
TTN309P18799Pc.56397G>Ap.Pro18799= 0/0 DCM Also carries TTN p.Lys5510Glu p.Val18643Ala p.Lys4646Glu p.Arg13340His p.Pro18799Pro p.Ser20658Gly, DSP p.Thr496Thr. Mutation details
TTN309R18824Cc.56470C>Tp.Arg18824Cys 0/0 DCM Also carries CAV3 p.Cys72Trp, JUP p.Ile726Ile, LDB3 c.689+15T>C. Mutation details
TTN311V19029Mc.57085G>Ap.Val19029Met 0/0 DCM Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN311R19067Cc.57199C>Tp.Arg19067Cys 0/0 DCM Also carries TPM1 p.Glu259Lys, TTN p.Thr3723Met, DTNA c.1086-8T>C, RYR2 p.Asp1862Asp Mutation details
TTN314S19357Sc.58071C>Tp.Ser19357= 0/0 DCM Also carries S187F in ANKRD1, P738L in RBM20, K24286 in TTN. Mutation details
TTN314K5362Kc.16086A>Gp.Lys5362= 0/0 DCM Also carries CSRP3 c.509-3_509-2delCA, DES p.Lys43Glu, PKP2 p.Ile458Val, DSG2 p.Cys637Cys p.Gly638Gly, SGCD p.Lys238del Mutation details
TTN316T19563Ac.58687A>Gp.Thr19563Ala 0/0 DCM Also carries ABCC9 p.Arg1506Cys, TTN c.1399-3C>T p.Tyr2010Cys p.Val15661Met p.Thr19563Ala, LMNA p.Gly638Arg Mutation details
TTN318V19732Ic.59194G>Ap.Val19732Ile 0/0 DCM Also carries TTN p.Ser33301Gly p.Ala13059Val p.Glu32221Lys p.Ala32493Ala Mutation details
TTN318K19758Rc.59273A>Gp.Lys19758Arg 0/0 DCM Also carries DSP p.Ser2843_Arg2846del, MYH6 p.Tyr162Cys, TTN c.10166-10G>C, ABCC9 p.Leu306Leu, DSG2 p.Asn182Ser, MYL3 c.130-14G>T Mutation details
TTN319G19815Rc.59443G>Ap.Gly19815Arg 0/0 DCM Also carries LAMA4 p.Arg690His, TTN p.Pro1744Leu p.Arg11967Cys p.Thr20826Met, CSRP3 p.Trp4Arg Mutation details
TTN320T19946Tc.59838T>Gp.Thr19946= 0/0 DCM Also carries ANKRD1 p.Ser187Phe, DSP p.Asn956Tyr, TTN p.Arg9774Gln p.Thr23012Met p.Tyr4266Cys p.Val8466Ile, RBM20 p.Arg1057Gln. Mutation details
TTN322D20190Nc.60568G>Ap.Asp20190Asn 0/0 DCM Also carries RBM20 p.Pro1089Ala, TMEM43 p.Ala174Thr, TTN c.18509-5T>C p.Val7271Val, JUP p.Val648Ile, MYBPC3 p.Val189Ile Mutation details
TTN326K20586fsX20599c.61754_61757dupAGAAp.Asn20586LysfsX14 0/0 DCM Also carries LDB3 p.Gln512Pro, TTN p.Thr4936Ser p.Asn7735His p.Met13395Val p.Tyr15596His p.Thr455Thr p.Lys6463Lys p.Thr24467Thr Mutation details
TTN326S20658Gc.61972A>Gp.Ser20658Gly 0/0 DCM N=2 1 patient also carries N597K in MYH7, P1535P in RYR2, R13340H S20658G in TTN. 1 patient also carries K5510E V18643A K4646E R13340H P18799P in TTN,T496T in DSP. Mutation details
TTN327splicec.79117+2T>Ar.spl? 0/0 DCM age 71 Also carries D1199G in RYR2, c.407-14C>A c.2644-11G>A in ABCC9 Mutation details
TTN327G20706Dc.62117G>Ap.Gly20706Asp 0/0 DCM Also carries TTN p.Ile3543Val p.Gly20706Asp c.30952+7C>T p.Val32286Leu, RYR2 p.Asn3418Asn c.11880+13_11880+16delACTG Mutation details
TTN327T20826Mc.62477C>Tp.Thr20826Met 0/0 DCM Also carries LAMA4 p.Arg690His, TTN p.Gly19815Arg p.Pro1744Leu p.Arg11967Cys,CSRP3 p.Trp4Arg Mutation details
TTN327T20867Tc.62601G>Ap.Thr20867= 0/0 DCM Also carries TTN p.Asn21761Asp p.Arg2654Lys p.Ser15499Ser, TPM1 p.Asp58Asp Mutation details
TTN 327A21043Vc.63128C>Tp.Ala21043Val 0/0 DCM Also carries TTN p.Gln31749X p.Thr7599Met,TCAP p.Arg158Ser Mutation details
TTN327I21334Tc.64001T>Cp.Ile21334Thr 0/0 DCM Also carries TTN p.Ala28755Val p.Val30341Ala Mutation details
TTN327E21559Kc.64675G>Ap.Glu21559Lys 0/0 DCM Also carries TTN p.Thr3653Ile p.Arg5979His p.Ser6016Tyr p.Pro9342Gln c.28823-12G>T p.Trp23370Ser p.Arg27006His p.Arg7324Arg, EMD p.Thr165Thr Mutation details
TTN327R21595Hc.64784G>Ap.Arg21595His 0/0 DCM Also carries p.Ser23240GlnfsX19 p.Pro3751Arg p.Val4191Met in TTN, p.Val391Ile in LAMP2, c.9067+12C>T in RYR2. Mutation details
TTN327P21640Pc.64920A>Gp.Pro21640= 0/0 DCM Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN327T21743Ac.65227A>Gp.Thr21743Ala 0/0 DCM, age 41 Clinical diagnosis of DCM with VT, family history of sudden cardiac death. Carries also N950fsX952 in DSP, S154R in PKP2,P244L in SGCD, I148V in TNNC1, A833T in MYBPC3. Mutation details
TTN327N21761Dc.65281A>Gp.Asn21761Asp 0/0 DCM Also carries TPM1 p.Asp58Asp, TTN p.Arg2654Lys p.Ser15499Ser p.Thr20867Thr Mutation details
TTN327L21878Lc.65632C>Tp.Leu21878= 0/0 DCM Also carries NEXN p.Lys586del, RBM20 p.Asp888Asn, TTN p.Arg23759Gln p.Gln25740Pro Mutation details
TTN327D22047fsX22055c.66141delAp.Glu22047AspfsX9 0/0 DCM also carries R872C in MYH6, A65 in PKP2, G18227 in TTN, T139M in TTR. Mutation details
TTN327S22136Sc.66408T>Cp.Ser22136= 0/0 DCM Also carries G65S S6 in DES, H1259 in MYH7, V12296 in TTN. Mutation details
TTN327N22275Dc.66823A>Gp.Asn22275Asp 0/0 DCM Also carries TTN p.Pro3520Leu p.Leu23382Phe p.Leu4732Leu p.Arg26725Cys Mutation details
TTN327P22396Lc.67187C>Tp.Pro22396Leu 0/0 DCM Also carries GLA p.Ala368Thr, LAMP2 p.Thr158Ala, RYR2 p.Met778Ile, VCL p.Lys464Gln, DSG2 p.Ile962Met, TPM1 c.639+13delG, TTN p.Arg31887Cys Mutation details
TTN327D22990Vc.68969A>Tp.Asp22990Val 0/0 DCM Also carries TTN p.Ala7105Gly p.Lys30369Glu p.Ser7103Ser p.Asp7342Asp,TCAP p.Arg106Cys Mutation details
TTN327T23012Mc.69035C>Tp.Thr23012Met 0/0 DCM Also carries ANKRD1 p.Ser187Phe,DSP p.Asn956Tyr, TTN p.Arg9774Gln p.Tyr4266Cys p.Val8466Ile p.Thr19946Thr, RBM20 p.Arg1057Gln. Mutation details
TTN327Y23103Yc.69309T>Cp.Tyr23103= 0/0 DCM Also carries MYBPC3 p.Arg1002Gln, RBM20 p.Arg703Lys, TTN p.Asp3648ValfsX22 p.Asp6218Glu, TMEM43 p.Val17Val Mutation details
TTN327Q23240fsX23158c.69717_69718insCp.Ser23240GlnfsX19 0/0 DCM Also carries p.Arg21595His p.Pro3751Arg p.Val4191Met in TTN, p.Val391Ile in LAMP2, c.9067+12C>T in RYR2. Mutation details
TTN327D23371Ac.70112A>Cp.Asp23371Ala 0/0 DCM, age 26 Clinical diagnosis of DCM with myopathy. Also carries R201fsX220 R429X in DES, I28975M R29799C D30198Y in TTN, S1335 in MYH7 Mutation details
TTN327W23370Sc.70109G>Cp.Trp23370Ser 0/0 DCM Also carries TTN p.Thr3653Ile p.Arg5979His p.Ser6016Tyr p.Pro9342Gln c.28823-12G>T p.Glu21559Lys p.Arg27006His p.Arg7324Arg, EMD p.Thr165Thr Mutation details
TTN327L23382Fc.70144C>Tp.Leu23382Phe 0/0 DCM Also carries TTN p.Pro3520Leu p.Asn22275Asp p.Leu4732Leu p.Arg26725Cys Mutation details
TTN327R23759Qc.71276G>Ap.Arg23759Gln 0/0 DCM Also carries NEXN p.Lys586del, RBM20 p.Asp888Asn, TTN p.Gln25740Pro p.Leu21878Leu Mutation details
TTN327V24189Vc.72567C>Tp.Val24189= 0/0 DCM Also carries DSP p.Gln2295His, TTN p.Pro10595Thr p.His17066His p.Pro17413Pro, RYR2 p.Pro1535Pro, TMEM43 c.297+13G>A. Mutation details
TTN327G24241Sc.72721G>Ap.Gly24241Ser 0/0 DCM Also carries p.Asn593Ser in DSP, p.Ser573Leu in LMNA, p.Gly16504GlufsX12 p.Trp25607Arg in TTN, p.Val648Ile in JUP, p.Arg106Cys in TCAP Mutation details
TTN327K24286Kc.72858G>Ap.Lys24286= 0/0 DCM Also carries S187F in ANKRD1, P738L in RBM20, S19357 in TTN. Mutation details
TTN327P24302Tc.72904C>Ap.Pro24302Thr 0/0 DCM Also carries TTN p.Arg4404Gly p.Val27415Met, ABCC9 p.Ala559Ala Mutation details
TTN327I24333Vc.72997A>Gp.Ile24333Val 0/0 DCM Also carries TTN c.50143+1G>A p.Thr5015Ser p.Arg13204Gln p.Tyr4421Cys,TCAP p.Glu13del, MYH7 p.Ile506Ile. Mutation details
TTN327E24427Kc.73279G>Ap.Glu24427Lys 0/0 DCM also carries Y13023X F5670L R15131H in TTN, c.2928+5G>A in MYH6,c.1106+9G>C in PRKAG2. Mutation details
TTN327T24467Tc.73401C>Ap.Thr24467= 0/0 DCM Also carries TTN p.Asn20586LysfsX14 p.Thr4936Ser p.Asn7735His p.Met13395Val p.Tyr15596His p.Thr455Thr p.Lys6463Lys, LDB3 p.Gln512Pro. Mutation details
TTN327P24793Ac.74377C>Gp.Pro24793Ala 0/0 DCM Also carries DSP p.Ala1584Thr, NEXN p.Glu470del p.Arg279Cys, SGCD p.Ser280Tyr,DSG2 p.Val158Val,TTN p.Ala8736Thr p.Val3816Ile p.Gly16402Gly p.Pro24793Ala p.Arg26725Cys, TTR c.*3_*11delGACTTCTCC Mutation details
TTN327G24929Rc.74785G>Ap.Gly24929Arg 0/0 DCM Also carries p.Ser32220Ser in TTN. Mutation details
TTN327N24952Kc.74856C>Ap.Asn24952Lys 0/0 DCM Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN327W25607Rc.76819T>Cp.Trp25607Arg 0/0 DCM Also carries p.Asn593Ser in DSP, p.Ser573Leu in LMNA, p.Gly16504GlufsX12 p.Gly24241Ser in TTN, p.Val648Ile in JUP, p.Arg106Cys in TCAP Mutation details
TTN327Q25740Pc.77219A>Cp.Gln25740Pro 0/0 DCM Also carries NEXN p.Lys586del, RBM20 p.Asp888Asn, TTN p.Arg23759Gln p.Leu21878Leu Mutation details
TTN327E25831Kc.77491G>Ap.Glu25831Lys 0/0 DCM Also carries PKP2 p.Asp26Asn Mutation details
TTN329Y26640Fc.79919A>Tp.Tyr26640Phe 0/0 DCM, age 46 Also carries G14227 in TTN Mutation details
TTN329S26653Sc.79959T>Cp.Ser26653= 0/0 DCM Also carries ACTN2 p.Thr412Met, MYH7 p.Ile724Asn, TTN p.Arg1861His p.Arg13564His p.Pro14315Ser p.Glu27925Gly p.Gln32642His p.Thr21822Ala p.Asn27144Asn p.Leu29758Leu, DSP c.1266+6G>T, PKP2 c.1171-11T>C, TNNT2 c.690-4G>T. Mutation details
TTN330V26702Ic.80104G>Ap.Val26702Ile 0/0 DCM, age 24 Also carries Y652C in NEXN, L94 in CTF1. Mutation details
TTN330R26725Cc.80173C>Tp.Arg26725Cys 0/0 DCM N=2 1 patient also carries DSP p.Ala1584Thr, NEXN p.Glu470del p.Arg279Cys, SGCD p.Ser280Tyr,DSG2 p.Val158Val,TTN p.Ala8736Thr p.Val3816Ile p.Gly16402Gly p.Pro24793Ala, TTR c.*3_*11delGACTTCTCC. 1 patient also carries TTN p.Pro3520Leu p.Asn22275Asp p.Leu23382Phe p.Leu4732Leu. Mutation details
TTN333R27006Hc.81017G>Ap.Arg27006His 0/0 DCM Also carries TTN p.Thr3653Ile p.Arg5979His p.Ser6016Tyr p.Pro9342Gln c.28823-12G>T p.Glu21559Lys p.Trp23370Ser p.Arg7324Arg, EMD p.Thr165Thr Mutation details
TTN334N27144Nc.81432C>Tp.Asn27144= 0/0 DCM Also carries ACTN2 p.Thr412Met, MYH7 p.Ile724Asn, TTN p.Arg1861His p.Arg13564His p.Pro14315Ser p.Glu27925Gly p.Gln32642His p.Thr21822Ala p.Ser26653Ser p.Leu29758Leu, DSP c.1266+6G>T, PKP2 c.1171-11T>C, TNNT2 c.690-4G>T. Mutation details
TTN334I2716fsX2724c.81493_81493+2delGGTAsp2716IlefsX9 0/0 DCM 1 patient also carries A29528T, P9631L, P18487 in TTN, c.1574+14G>T in DSP, D26N in PKP2 Mutation details
TTN334S29198Fc.87593C>Tp.Ser29198Phe 0/0 DCM Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN336K27354Nc.82062G>Cp.Lys27354Asn 0/0 DCM Also carries TTN p.Leu16074Gln p.Arg31678His, VCL c.2746-14C>T Mutation details
TTN336V27415Mc.82243G>Ap.Val27415Met 0/0 DCM Also carries TTN p.Arg4404Gly p.Pro24302Thr, ABCC9 p.Ala559Ala Mutation details
TTN336S27430Sc.82290G>Ap.Ser27430= 0/0 DCM Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN336R27611Hc.82832G>Ap.Arg27611His 0/0 DCM Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN336R27628fsX27721c.82883delAp.Lys27628ArgfsX94 0/0 DCM Also carries I2770T in RYR2, V9223I in TTN, D313Y in GLA, I252S in LAMP2. Mutation details
TTN336N27640Nc.82920T>Cp.Asn27640= 0/0 DCM Also carries MYH7 p.Glu1286Lys p.Gln1471X,PKP2 p.Arg101His, TTN c.19366+15G>T p.Glu9928dup p.Glu10667Lys, PKP2 p.Glu58Asp, RBM20 p.Glu1125Lys Mutation details
TTN336C27708Gc.83122T>Gp.Cys27708Gly 0/0 DCM Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN337intronicc.83861-13C>T- 0/0 DCM Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN337N27876Nc.83628C>Tp.Asn27876= 0/0 DCM Also carries P50 c.3452-10C>T in RBM20, L41L in SGCD, V31321I in TTN Mutation details
TTN337E27925Gc.83774A>Gp.Glu27925Gly 0/0 DCM Also carries ACTN2 p.Thr412Met, MYH7 p.Ile724Asn, TTN p.Arg1861His p.Arg13564His p.Pro14315Ser p.Gln32642His p.Thr21822Ala p.Ser26653Ser p.Asn27144Asn p.Leu29758Leu, DSP c.1266+6G>T, PKP2 c.1171-11T>C, TNNT2 c.690-4G>T. Mutation details
TTN338A28021Tc.84061G>Ap.Ala28021Thr 0/0 DCM Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN340P28158Sc.84472C>Tp.Pro28158Ser 0/0 DCM Also carries ABCC9 p.Thr667Lys, TTN p.Ala9583Val p.Pro28158Ser p.Val3816Leu Mutation details
TTN340S28732Sc.86196C>Tp.Ser28732= 0/0 DCM Also carries TTN p.Ser6871Asn p.Pro9369Ala, ACTN2 p.Pro856Pro, LAMA4 p.Glu451Glu p.Glu930Gly, MYH7 p.Ala1012Ala Mutation details
TTN340L28731fsX28744c.86193delTp.Phe28731LeufsX14 0/0 DCM Also carries A669T in LAMA4, R33194Q in TTN, D2070N in DSP,R106C in TCAP. Mutation details
TTN340A28755Vc.86264C>Tp.Ala28755Val 0/0 DCM Also carries TTN p.Val30341Al p.Ile21334Thr Mutation details
TTN342I28975Mc.86925A>Gp.Ile28975Met 0/0 DCM, age 26 Clinical diagnosis of DCM with myopathy. Also carries R201fsX220 R429X in DES, D23371A R29799C D30198Y in TTN, S1335 in MYH7 Mutation details
TTN344T29148Tc.87444C>Tp.Thr29148= 0/0 DCM Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN347intronicc.88606+11T>C- 0/0 DCM Also carries RBM20 p.Thr177Ser, DSG2 p.Ser351Gly c.1652-12C>T, PKP2 p.Ala236Ser, TTN p.Gly5814Asp p.Leu9540Val p.Lys15950Arg c.90979+7G>C Mutation details
TTN347R29465Hc.88394G>Ap.Arg29465His 0/0 DCM Also carries PRKAG2 p.Ser207Cys, TTN p.Gly17093Asp p.Arg29765His, LAMA4 c.196-9C>T p.Val977Ile Mutation details
TTN347T29479Mc.88436C>Tp.Thr29479Met 0/0 DCM Also carries ANKRD1 p.Arg66Gln, TNNT2 p.Ala177Asp, TTN p.Pro10102Pro c.92468-10_92468-9insT p.Thr869Ser p.Glu4977Asp, DSP p.Asp782Asp, NEXN p.Glu332Ala, RYR2 p.Glu920Glu Mutation details
TTN347A29528Tc.88582G>Ap.Ala29528Thr 0/0 DCM, age 28 Also carries I2716fsX2724 P9631L P18487 in TTN, c.1574+14G>T in DSP, D26N in PKP2 Mutation details
TTN349L29758Lc.89274G>Ap.Leu29758= 0/0 DCM Also carries ACTN2 p.Thr412Met, MYH7 p.Ile724Asn, TTN p.Arg1861His p.Arg13564His p.Pro14315Ser p.Glu27925Gly p.Gln32642His p.Thr21822Ala p.Ser26653Ser p.Asn27144Asn ,DSP c.1266+6G>T, PKP2 c.1171-11T>C, TNNT2 c.690-4G>T. Mutation details
TTN349R29765Hc.89294G>Ap.Arg29765His 0/0 DCM Also carries DES p.Lys201ArgfsX20 p.Arg429X, TTN p.Asp23371Ala p.Ile28975Met p.Arg29799Cys p.Asp30198Tyr, MYH7 p.Ser1335Ser Mutation details
TTN349R29799Cc.89395C>Tp.Arg29799Cys 0/0 DCM, age 26 Clinical diagnosis of DCM with myopathy. Also carries R201fsX220 R429X in DES, D23371A I28975M D30198Y in TTN, S1335 in MYH7 Mutation details
TTN353splicec.90979+7G>Cr.spl? 0/0 DCM Also carries RBM20 p.Thr177Ser,DSG2 p.Ser351Gly c.1652-12C>T, PKP2 p.Ala236Ser, TTN p.Gly5814Asp p.Leu9540Val p.Lys15950Arg c.88606+11T>C Mutation details
TTN353R30180Hc.90539G>Ap.Arg30180His 0/0 DCM also carries c.13451-9T>C in TTN, V920G in DSG2. Mutation details
TTN353D30198Yc.90592G>Tp.Asp30198Tyr 0/0 DCM, age 26 Clinical diagnosis of DCM with myopathy. Also carries R201fsX220 R429X in DES, D23371A I28975M R29799C in TTN, S1335 in MYH7 Mutation details
TTN353A30197Gc.90590C>Gp.Ala30197Gly 0/0 DCM Also carries TTN p.Gly3579Asp p.Glu17673Gln p.Arg1941Arg p.Cys5387Tyr c.23030-14_23030-10dupTTTGT p.Arg18073Gln Mutation details
TTN353L30265Lc.90795C>Tp.Leu30265= 0/0 DCM carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN354V30341Ac.91022T>Cp.Val30341Ala 0/0 DCM Also carries TTN p.Ala28755Val p.Ile21334Thr Mutation details
TTN354K30369Ec.91105A>Gp.Lys30369Glu 0/0 DCM Also carries TTN p.Ala7105Gly p.Asp22990Val p.Ser7103Ser p.Asp7342Asp, TCAP p.Arg106Cys Mutation details
TTN356R30577Qc.91730G>Ap.Arg30577Gln 0/0 DCM also carries Y13026X I11772T S1711F S15463G in TTN, A990V in VCL. Mutation details
TTN356G30709Ec.92126G>Ap.Gly30709Glu 0/0 DCM Also carries MYLK2 p.Pro93Thr,LDB3 p.Thr91Thr, TPM1 p.Ala206Ala Mutation details
TTN356L30704Fc.92110C>Tp.Leu30704Phe 0/0 DCM   Mutation details
TTN357Intronicc.92468-10_92468-9insT- 0/0 DCM Also carries ANKRD1 p.Arg66Gln, TNNT2 p.Ala177Asp, TTN p.Pro10102Pro p.Thr869Ser p.Glu4977Asp p.Thr29479Met, DSP p.Asp782Asp, NEXN p.Glu332Ala, RYR2 p.Glu920Glu Mutation details
TTN357C30763Rc.92287T>Cp.Cys30763Arg 0/0 DCM Also carries DSC2 p.Val816Met, LDB3 p.Ala442_Pro449del p.Val491Glu, TTN p.Asn7647Ser c.27071-15C>T, CAV3 p.Pro48Pro p.Ala102Ala, MYL3 c.482-14C>A c.559+6C>T, SGCD p.Leu41Leu, TTN p.Ser32508Ser Mutation details
TTN357I30785Ic.92355T>Ap.Ile30785= 0/0 DCM Carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN359V31234Vc.93702C>Gp.Val31234= 0/0 DCM carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN359V31321Ic.93961G>Ap.Val31321Ile 0/0 DCM Also carries P50 c.3452-10C>T in RBM20, L41L in SGCD, N27876N in TTN Mutation details
TTN359R31396Hc.94187G>Ap.Arg31396His 0/0 DCM Carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN359M31575Tc.94724T>Cp.Met31575Thr 0/0 DCM Also carries PKP2 p.Val587Ile. Mutation details
TTN359I31631Vc.94891A>Gp.Ile31631Val 0/0 DCM carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN359N31645Sc.94934A>Gp.Asn31645Ser 0/0 DCM Also carries TTN p.Ile5261Thr p.Asn31645Ser, DSG2 p.Val920Gly Mutation details
TTN359R31678Hc.95033G>Ap.Arg31678His 0/0 DCM Also carries TTN p.Leu16074Gln p.Lys27354Asn, VCL c.2746-14C>T Mutation details
TTN359Q31749Xc.95245C>Tp.Gln31749X 0/0 DCM Also carries TTN p.Thr7599Met p.Ala21043Val,TCAP p.Arg158Ser Mutation details
TTN359R31170Cc.93508C>Tp.Arg31170Cys 0/0 DCM Also carries D398del inCASQ2. Mutation details
TTN359R31887Cc.95659C>Tp.Arg31887Cys 0/0 DCM Also carries GLA p.Ala368Thr, LAMP2 p.Thr158Ala, RYR2 p.Met778Ile, VCL p.Lys464Gln, DSG2 p.Ile962Met, TPM1 c.639+13delG, TTN p.Pro22396Leu Mutation details
TTN359S32220Sc.96660C>Tp.Ser32220= 0/0 DCM Also carries TTN p.Gly24929Arg Mutation details
TTN359E32221Kc.96661G>Ap.Glu32221Lys 0/0 DCM Also carries TTN p.Val19732Ile p.Ser33301Gly p.Ala13059Val p.Ala32493Ala Mutation details
TTN359V32286Lc.96856G>Cp.Val32286Leu 0/0 DCM N=3 1 patient also carries V1014I in DSG2,E290K in LMNA,K12568N V32286L in TTN. 1 patient also carries A110T in MYH6, K5680K E7030K K12568N V32286L in TTN. 1 patient also carries c.30952+7C>T G20706D in TTN, c.11880+13_11880+16delACT N3418N in RYR2. Mutation details
TTN359A32493Ac.97479G>Ap.Ala32493= 0/0 DCM Also carries TTN p.Val19732Ile p.Ser33301Gly p.Ala13059Val p.Glu32221Lys Mutation details
TTN359S32508Sc.97524G>Ap.Ser32508= 0/0 DCM Also carries DSC2 p.Val816Met, LDB3 p.Ala442_Pro449del p.Val491Glu, TTN p.Cys30763Arg p.Asn7647Ser c.27071-15C>T, CAV3 p.Pro48Pro p.Ala102Ala, MYL3 c.482-14C>A c.559+6C>T, SGCD p.Leu41Leu Mutation details
TTN359T32519Mc.97556C>Tp.Thr32519Met 0/0 DCM Also carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN359Q32642Hc.97926A>Cp.Gln32642His 0/0 DCM Also carries ACTN2 p.Thr412Met, MYH7 p.Ile724Asn, TTN p.Arg1861His p.Arg13564His p.Pro14315Ser p.Glu27925Gly p.Thr21822Ala p.Ser26653Ser p.Asn27144Asn p.Leu29758Leu, DSP c.1266+6G>T, PKP2 c.1171-11T>C, TNNT2 c.690-4G>T. Mutation details
TTN361R32978Rc.98934G>Ap.Arg32978= 0/0 DCM Carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details
TTN361T33028Ic.99083C>Tp.Thr33028Ile 0/0 DCM Also carries MYLK2 p.Ala2Thr, NEXN p.Glu332Ala, TTN p.Gly1345Asp Mutation details
TTN362R33194Qc.99581G>Ap.Arg33194Gln 0/0 DCM Also carries L28731fsX28744 in TTN, A669T in LAMA4, D2070N in DSP,R106C in TCAP. Mutation details
TTN363S33301Gc.99901A>Gp.Ser33301Gly 0/0 DCM Also carries TTN p.Val19732Ile p.Ala13059Val p.Glu32221Lys p.Ala32493Ala Mutation details
TTN364E33332Ec.99996A>Gp.Glu33332Glu 0/0 DCM carries ACTN2 p.Arg298His,CTF1 c.*5C>A ,MYH7 p.Arg237Trp, LDB3 p.Val118Met ,TTN p.Ala396Thr p.Arg1998His p.Cys4831Tyr p.Gly4382Asp p.Asn5031Ser p.Ile5481Met p.Phe6602Leu p.Arg7253His c.25873-12T>C p.Glu10221Asp p.Pro10574Ser p.Val11542Ala p.Ala12491Thr p.Pro13281Thr p.Ser14072Thr p.Val19029Met p.Asn24952Lys p.Arg27611His p.Cys27708Gly c.83861-13C>T p.Ala28021Thr p.Ser29198Phe p.Arg31396His p.Ile31631Val p.Thr32519Met c.1938+10G>C p.Ser6806Ser p.Asp8884Asp p.Leu13889Leu p.Ile16648Ile p.Pro21640Pro p.Ser27430Ser p.Thr29148Thr p.Leu30265Leu p.Ile30785Ile p.Val31234Val p.Arg32978Arg p.Glu33332Glu Mutation details