Article details

Bauce et al. Heart Rhythm 2011;8:1686-95.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSG24G100Rc.298G>Cp.Gly100Arg 0/0   See Pilichou et al. and Basso et al. Mutation details
DSG26E230Gc.689A>Gp.Glu230Gly 0/0   See Rampazzo et al. Mutation details
DSG29V392Ic.1174G>A p.Val392Ile 0/0   See Rampazzo et al. Mutation details
DSG29D419Xc.1254_1257insATGAp.Asp419X 0/0   See Pilichou et al. and Basso et al. Mutation details
DSG212Q558Xc.1672C>Tp.Gln558X 0/0   See Pilichou et al. and Basso et al. Mutation details
DSG213G638Rc.1912G>Ap.Gly638Arg 0/0   See Rampazzo et al. Mutation details
DSG215P925Sc.2773C>Tp.Pro925Ser 0/0   See Rampazzo et al. Mutation details
DSG215V997fsX1016c.2990delGp.Gly997ValfsX20 0/0   See Rampazzo et al. Mutation details
DSP1V30Mc.88G>Ap.Val30Met 0/0   See Bauce et al. 2010 Mutation details
DSP2Splicec.273+5G>Ar.spl? 0/0   See Rampazzo et al. Mutation details
DSP4Splicec.423-1G>Ar.spl 0/0   See Bauce at al. 2005 Mutation details
DSP7S299Rc.897C>Gp.Ser299Arg 0/0   See Rampazzo et al. 2002. Mutation details
DSP9N375Ic.1124A>Tp.Asn375Ile 0/0   See Rampazzo et al. Mutation details
DSP11N458Yc.1372A>Tp.Asn458Tyr 0/0   See Rampazzo et al. Mutation details
DSP11K470Ec.1408A>Gp.Lys470Glu 0/0   See Basso et al. Mutation details
DSP13A566Tc.1696G>Ap.Ala566Thr 0/0   See Basso et al. Mutation details
DSP23V1068fsX1086c.3203_3204delAGp.Glu1068ValfsX19 0/0   See Rampazzo et al. Mutation details
DSP23R1113Xc.3337C>Tp.Arg1113X 0/0   See Rampazzo et al. Mutation details
DSP23D1258Ec.3774C>Ap.Asp1258Glu 0/0   See Rampazzo et al. Mutation details
DSP23M1601Ic.4803G>Ap.Met1601Ile 0/0   See Rampazzo et al. Mutation details
DSP23L1654Pc.4961T>Cp.Leu1654Pro 0/0   See Bauce et al. 2010 Mutation details
DSP23R1775Ic.5324G>Tp.Arg1775Ile 0/0   See Bauce at al. 2010 Mutation details
DSP24R2541Kc.7622G>Ap.Arg2541Lys 0/0   See Bauce et al. 2010. Mutation details
DSP3'UTRUTRc.*9T>A- 0/0   Reported as mutation Mutation details
PKP21S50fsX110c.148_151delACAGp.Thr50SerfsX61 0/0   See Bauce et al. 2010 Mutation details
PKP21D62fsX84c.184_185delCAp.Gln62AspfsX23 0/0   See Rampazzo et al. Mutation details
PKP22N76Sc.227A>Gp.Ans76Ser 0/0   See Rampazzo et al. Mutation details
PKP27V548fsX562c.1643delGp.Gly548ValfsX15 0/0   See Rampazzo et al. Mutation details
PKP210R672fsX683c.2013delCp.Lys672ArgfsX12 0/0   See Rampazzo et al. Mutation details
PKP212I778Tc.2333T>Cp.Ile778Thr 0/0   See Rampazzo et al. Mutation details