Article details

Bao et al. Circulation Cardiovascular Genetics 2013;6:552-6.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DES7T422Nc.1265C>Ap.Thr422Asn 0/600 TFC+   Mutation details
DSC23G77Sc.229G>Ap.Gly77Ser 0/600 TFC+   Mutation details
DSC23I96Tc.287T>Cp.Ile96Thr 0/600 TFC+   Mutation details
DSC25E189Qc.565G>Cp.Glu189Gln 0/600 TFC+   Mutation details
DSG23N35Kc.105T>Ap.Asn35Lys 0/600 TFC+;N=2   Mutation details
DSG23R49Hc.146G>Ap.Arg49His 0/600 TFC+,N=3   Mutation details
DSG26Y198Cc.593A>Gp.Tyr198Cys 0/600 TFC+,N=2   Mutation details
DSG26R229Gc.685A>Gp.Arg229Gly 0/600 TFC+   Mutation details
DSG28I293Vc.877A>Gp.Ile293Val 0/600 TFC+   Mutation details
DSG210S445Fc.1334C>Tp.Ser445Phe 0/600 TFC+   Mutation details
DSG211F531Cc.1592T>Gp.Phe531Cys 0/600 TFC+,N=5   Mutation details
DSG214G679Vc.2036G>Tp.Gly679Val 0/600 TFC+   Mutation details
DSG214R773Kc.2318G>Ap.Arg773Lys 406/600 TFC+;N=80   Mutation details
DSG215R824Cc.2470C>Tp.Arg824Cys 0/600 TFC+,N=2 rs201845396 Mutation details
DSG215k856Nc.2568A>Cp.Lys856Asn 74/600 TFC+,N=2   Mutation details
DSG215T1070Mc.3209C>Tp.Thr1070Met 16/600 TFC+   Mutation details
DSP5W207Cc.621G>Tp.Trp207Cys 0/600 TFC+   Mutation details
DSP10I399Mc.1197C>Gp.Ile399Met 0/600 TFC+,N=3   Mutation details
DSP12Y494Fc.1481A>Tp.Tyr494Phe 84/600 TFC+,N=14   Mutation details
DSP23E1201Kc.3601G>Ap.Glu1201Lys 0/600 TFC+   Mutation details
DSP23K1288Qc.3862A>Cp.Lys1288Gln 0/600 TFC+ rs138907450 Mutation details
DSP23R1308Qc.3923G>Ap.Arg1308Gln 6/600 TFC+;N=2   Mutation details
DSP23L1348Rc.4043T>Gp.Leu1348Arg 0/600 TFC+   Mutation details
DSP23R1400Xc.4198C>Tp.Arg1400X 0/600 TFC+   Mutation details
DSP23V1510Ic.4528G>Ap.Val1510Ile 2/600 TFC+   Mutation details
DSP23Y1512Cc.4535A>Gp.Tyr1512Cys 316/600 TFC+,N=57   Mutation details
DSP23Q1648Rc.4943A>Gp.Gln1648Arg 4/600 TFC+;N=4   Mutation details
DSP23R1738Qc.5213G>Ap.Arg1738Gln 174/600 TFC+;N=35   Mutation details
DSP24T2267Sc.6799A>Tp.Thr2267Ser 6/600 TFC+;N=2   Mutation details
DSP24R2541Sc.7623G>Tp.Arg2541Ser 0/600 TFC+   Mutation details
DSP24R2639Qc.7916G>Ap.Arg2639Gln 16/600 TFC+;N=4   Mutation details
DSP24K2689Tc.8066A>Cp.Lys2689Thr 0/600 TFC+   Mutation details
DSP24M2819Lc.8455A>Cp.Met2819Leu 6/600 TFC+;N=2   Mutation details
DSP24I2869Vc.8605A>Gp.Ile2869Val 34/600 TFC+;N=2   Mutation details
JUP4M234Ic.702G>Tp.Met234Ile 2/600 TFC+   Mutation details
JUP8T427Mc.1280C>Tp.Thr427Met 0/600 TFC+   Mutation details
JUP10R572Wc.1714C>Tp.Arg572Trp 2/600 TFC+   Mutation details
JUP13Y693Cc.2078A>Gp.Tyr693Cys 0/600 TFC+   Mutation details
JUP14M697Lc.2089A>Tp.Met697Leu 294/600 TFC+;N=52   Mutation details
PKP22Splicec.224-3C>Gr.spl? 0/600 TFC+   Mutation details
PKP22R79Xc.235C>Tp.Arg79X 0/600 TFC+   Mutation details
PKP22M85fsX110c.253_256delp.Glu85MetfsX26 0/600 TFC+   Mutation details
PKP22Splicec.336+1G>Ar.spl 0/600 TFC+   Mutation details
PKP23H143Yc.427C>Tp.His143Tyr 0/600 TFC+   Mutation details
PKP23T153fsX188c.456delTp.Asp153ThrfsX37 0/600 TFC+   Mutation details
PKP23Y166Xc.498C>Gp.Tyr166X 0/600 TFC+   Mutation details
PKP23Q170Xc.508C>Tp.Gln170X 0/600 TFC+   Mutation details
PKP23C190fsX262c.568delGp.Val190CysfsX73 0/600 TFC+   Mutation details
PKP23Y243Xc.729C>Gp.Tyr243X 0/600 TFC+   Mutation details
PKP23S249Tc.746G>Cp.Ser249Thr 0/600 TFC+   Mutation details
PKP23S268fsX301c.801delTp.Thr268SerfsX34 0/600 TFC+   Mutation details
PKP23W290Xc.870G>Ap.Trp290X 0/600 TFC+,N=2   Mutation details
PKP23R299Cc.895C>Tp.Arg299Cys 0/600 TFC+   Mutation details
PKP24R355*c.1063C>Tp.Arg355* 0/600 TFC+   Mutation details
PKP24L366Pc.1097T>Cp.Leu366Pro 44/600 TFC+,N=3   Mutation details
PKP24splicec.1170+1G>Ar.spl? 0/600 TFC+   Mutation details
PKP25Splicec.1171-2A>Gr.spl 0/600 TFC+   Mutation details
PKP25Q459fsX465c.1375delAp.Thr459GlnfsX7 0/600 TFC+   Mutation details
PKP27N513delc.1669_1671delAACp.Asn513del 0/600 TFC+   Mutation details
PKP27S533fsX562c.1597delAp.Ile533SerfsX30 0/600 TFC+   Mutation details
PKP28I583Mc.1749T>Gp.Ile583Met 0/600 TFC+   Mutation details
PKP29R651Xc.1951C>Tp.Arg651X 0/600 TFC+   Mutation details
PKP210Q660Xc.1978C>Tp.Gln660X 0/600 TFC+ N=3   Mutation details
PKP210P665Rc.1994C>Gp.Pro665Arg 0/600 TFC+   Mutation details
PKP211Splicec.2146-1_2146delGAr.spl? 0/600 TFC+   Mutation details
PKP211K727Xc.2179A>Tp.Lys727X 0/600 TFC+   Mutation details
PKP211R735Xc.2203C>Tp.Arg735X 0/600 TFC+ N=3   Mutation details
PKP211R747fsX753c.2240delAp.Lys747ArgfsX7 0/600 TFC+   Mutation details
PKP212Y807Xc.2421C>Ap.Tyr807X 0/600 TFC+ N=2   Mutation details
PKP212Splicec.2489+1G>Ar.spl 0/600 TFC+, N=4   Mutation details
PKP213N852fsX930c.2554delGp.Glu852AsnfsX79 0/600 TFC+,N=3   Mutation details
TGFB31T63Nc.188C>Ap.Thr63Asn 0/600 TFC+,N=2   Mutation details
TMEM434P111Lc.332C>Tp.Pro111Leu 0/600 TFC+   Mutation details
TMEM436K168Nc.504A>Tp.Lys168Asn 322/600 TFC+;N=68   Mutation details
TMEM437M179Tc.536T>Cp.Met179Thr 518/600 TFC+;N=115   Mutation details
TMEM4312S358Lc.1073C>Tp.Ser358Leu 0/600 TFC+   Mutation details
TMEM4312Y371Hc.1111T>Cp.Tyr371His 6/600 TFC+   Mutation details