Article details

Bhonsale et al. Circ Arrhythm Electrophysiol. 2013;6:569-578.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
      0/0   Previously reported by den Haan et al. Mutation details
DSC22Splicec.154+1G>Ar.spl? 0/0     Mutation details
DSC26G220Rc.658G>Ap.Gly220Arg 0/0     Mutation details
DSG23R46Wc.136C>Tp.Arg46Trp 0/0     Mutation details
DSG23R46Qc.137G>Ap.Arg46Gln 0/0   Previously reported by Awad et al. Mutation details
DSG23R49Hc.146G>Ap.Arg49His 0/0   N=2, 1 compound (DSG2 W306X) Mutation details
DSG25V158Gc.473T>Gp.Val158Gly 0/0     Mutation details
DSG25Splicec.523+2T>Cr.spl? 0/0   N=2. 1 compound(DSG2 K346del), previously reported by Tan et al. Mutation details
DSG28T335Ac.1003A>Gp.Thr335Ala 0/0   N=2, 1 digenic (PKP2 S50fsX110), previously reported by Dalal et al. Mutation details
DSG29K346delc.1038_1040delGAAp.Lys346del 0/0   N=2, 1 compound (DSG2 c.523+2T>C), previously reported by Tan et al. Mutation details
DSG211C507Yc.1520G>Ap.Cys507Tyr 0/0     Mutation details
DSG215G812Cc.2434G>Tp.Gly812Cys 0/0   Previously reported by Awad et al. Mutation details
DSG215T1047Rc.3140C>Gp.Tyr1047Arg 0/0   Previously reported by Tan et al. Mutation details
DSP1V30Mc.88G>Ap.Val30Met 0/0     Mutation details
DSP10E422Kc.1264G>Ap.Glu422Lys 0/0   Previously reported by Tan et al. Mutation details
DSP11I445Vc.1333A>Gp.Ile445Val 0/0   Previously reported by den Haan et al. Mutation details
DSP23s1054fsX1079c.3160_3169delAAGAACAAATp.Lys1054Serfs*26 0/0     Mutation details
DSP24R2166Xc.6496C>Tp.Arg2166* 0/0     Mutation details
JUP2T19Ic.56C>Tp.Thr19Ile 0/0     Mutation details
PKP21S50fsX110c.148_151delACAGp.Thr50SerfsX61 0/0   N=2. 1 digenic (DSG2 T335A), previously reported by Dalal et al. Mutation details
PKP21Q74fsX85c.218dupGp.Asn74GlnfsX12 0/0   Previously reported by Tan et al. Mutation details
PKP22Splicec.224-3C>Gr.spl? 0/0     Mutation details
PKP22R79Xc.235C>Tp.Arg79X 0/0   Previously reported by Dalal et al. Mutation details
PKP22Splicec.337-2A>Tr.spl? 0/0     Mutation details
PKP23R323fsX350c.968_971delAGGCp.Gln323Argfs*28 0/0     Mutation details
PKP24Q378Xc.1132C>Tp.Gln378X 0/0     Mutation details
PKP25Splicec.1171-2A>Gr.spl 0/0   Previously reported by Dalal et al. Mutation details
PKP25S406fsX409c.1211dupTp.Val406SerfsX4 0/0     Mutation details
PKP25R413Xc.1237C>Tp.Arg413X 0/0   N=2. 1 patient digenic (DSG2 G277fsX278), previously reported by den Haan et al. Mutation details
PKP25F424Sc.1271T>Cp.Phe424Ser 0/0   Previously reported by Dalal et al. Mutation details
PKP25H436fsX446c.1307_1315delins8p.Leu436HisfsX11 0/0   Previously reported by den Haan et al. Mutation details
PKP25N456fsX458c.1368delAp.Lys456AsnfsX3 0/0   Previously reported by Dalal et al. Mutation details
PKP25Splicec.1378+1G>Cr.spl? 0/0     Mutation details
PKP27W538Xc.1613G>Ap.Trp538X 0/0   Previously reported by Dalal et al. Mutation details
PKP27V548fsX562c.1643delGp.Gly548ValfsX15 0/0   Previously reported by Dalal et al. Mutation details
PKP28V587Ic.1759G>Ap.Val587Ile 0/0   Previously reported by den Haan et al. Mutation details
PKP28S587fsX69c.1759delGp.Val587SerfsX655 0/0   Previously reported by Tan et al. Mutation details
PKP28A587fsX658c.1760delTp.Val587Alafs*69 0/0     Mutation details
PKP28E601fsX55c.1803delCp.D601EfsX655 0/0     Mutation details
PKP29C608fsX615c.1821dupp.Val608Cysfs*6 0/0     Mutation details
PKP29S615Fc.1844C>Tp.Ser615Phe 0/0     Mutation details
PKP29Q617Xc.1849C>Tp.Gln617* 0/0   reported as G617X Mutation details
PKP210R672fsX683c.2013delCp.Lys672ArgfsX12 0/0   Previously reported by Dalal et al. Mutation details
PKP210Splicec.2145+1G>Ar.spl? 0/0     Mutation details
PKP211Splicec.2146-1G>Cr.spl 0/0   Previously reported by Dalal et al. Mutation details
PKP211V725Dc.2174T>Ap.Val725Asp 0/0   Previously reported by Tan et al. Mutation details
PKP211A733fsX740c.2197_2202delinsGp.His733AlafsX8 0/0   Previously reported by Dalal et al. Mutation details
PKP212L787Fc.2359C>Tp.Leu787Phe 0/0   Previously reported by den Haan et al. Mutation details
PKP212G828Gc.2484C>Tr.2483_2489del 0/0   homozygous, previously reported by Awad et al. Mutation details
PKP212Splicec.2489+1G>Ar.spl 0/0   Previously reported by Dalal et al. Mutation details
PKP213V837fsX930c.2509delAp.Ser837ValfsX94 0/0   Previously reported by Dalal et al. Mutation details
PLN2R14delc.40_42delAGAp.Arg14del 0/0     Mutation details
TMEM4312S358Lc.1073C>Tp.Ser358Leu 0/0     Mutation details