DCM cohort mutation data from Partners Healthcare, titin sequenced in a minority of cases. (2014)
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH.
Genet Med 2014 Aug;16(8):601-8.
Cohort | Description | Status | Size | TTNtv % |
---|
ALL-CASES | Broad referral population to Partners HealthCare | DCM | 156 | 14.7% |
Cohort | Patient ID | Exon | Band | Variant (CDS) | Variant (protein) | Variant Type |
---|
ALL-CASES | 68 | 18 |
near Z-disk | c.3034C>T | p.Arg1012X | nonsense |
ALL-CASES | 155 | 49 |
I-band | c.11657delA | p.Asp3886ValfsX22 | frameshift |
ALL-CASES | 157 | 49 |
I-band | c.12587C>A | p.Ser4196X | nonsense |
ALL-CASES | 156 | 53 |
I-band | c.15369_15371delGTT | p.Leu5123del | inframe indel |
ALL-CASES | 110 | 228 |
I-band | c.41610delA | p.Val13871SerfsX7 | frameshift |
ALL-CASES | 113 | 241 |
I-band | c.44364delC | p.Tyr14789ThrfsX15 | frameshift |
ALL-CASES | 103 | 246 |
I-band | c.45307C>T | p.Arg15103X | nonsense |
ALL-CASES | 109 | 249 |
I-band | c.46069_46070delAT | p.Met15357ValfsX4 | frameshift |
ALL-CASES | 116 | 252 |
I-band | c.46773T>A | p.Tyr15591X | nonsense |
ALL-CASES | 119 | 252 |
I-band | c.46782C>A | p.Tyr15594X | nonsense |
ALL-CASES | 114 | 294 |
A-band | c.57215delG | p.Gly19072GlufsX12 | frameshift |
ALL-CASES | 107 | 296 |
A-band | c.57847+1G>A | | essential splice site |
ALL-CASES | 112 | 297 |
A-band | c.57995delA | p.His19332ProfsX18 | frameshift |
ALL-CASES | 106 | 297 |
A-band | c.57995delA | p.His19332ProfsX18 | frameshift |
ALL-CASES | 115 | 297 |
A-band | c.57995delA | p.His19332ProfsX18 | frameshift |
ALL-CASES | 104 | 326 |
A-band | c.69458_69461dupAGAA | p.Asn23154LysfsX14 | frameshift |
ALL-CASES | 117 | 327 |
A-band | c.73845delA | p.Glu24615AspfsX9 | frameshift |
ALL-CASES | 111 | 327 |
A-band | c.77421_77422insC | p.Ser25808GlnfsX19 | frameshift |
ALL-CASES | 108 | 327 |
A-band | c.86821+2T>A | | essential splice site |
ALL-CASES | 105 | 334 |
A-band | c.89197_89197+2delGGT | | essential splice site |
ALL-CASES | 102 | 336 |
A-band | c.90587delA | p.Lys30196ArgfsX94 | frameshift |
ALL-CASES | 120 | 340 |
A-band | c.93897delT | p.Phe31299LeufsX14 | frameshift |
ALL-CASES | 118 | 359 |
M-band | c.102949C>T | p.Gln34317X | nonsense |