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Table 2 Ranked cardiac expressed exome variants identified

From: Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death

Chr Nucleotide Ref base Alt base Gene symbol Gene name Cardiac expression (FKPM) Amino acid replacement rs SNP ID ESP6500 alleles 1 K Genomes allele frequency GERP score Grantham score PolyPhen score
1 236882307 G A ACTN2 Actinin, alpha 2 581.019 Ala119Thr 0 G = 13006 0 5.56 58 0.999
12 33049590 C T PKP2 Plakophilin 2 257.408 Asp26Asn 143004808 T = 60/C = 12284 0.0027 4.07 23 0.992
3 49158893 C T LAMB2 Laminin, beta 2 241.959 Ala1745Thr 142041381 T = 5/C = 13001 0 5.34 58 1
20 6012009 C T CRLS1 Cardiolipin synthase 1 54.3269 Pro119Leu 0 C = 13004 0 5.83 98 0.996
6 138428407 G A PERP TP53 apoptosis effector 50.2039 Ala24Val 0 G = 12832 0 −2.97 64 0
X 32509625 A C DMD Dystrophin 41.8677 Asn789Lys 72468681 C = 63/A = 10498 0.01 0.181 94 0.856
10 81109459 G C PPIF Peptidylprolyl isomerase F 40.9854 Gly89Arg 145899672 A = 3/G = 13003 0 5.4 125 1
2 44200942 T C LRPPRC Leucine-rich pentatricopeptide repeat containing 35.1996 Asn418Ser 0 C = 1/T = 13005 0 2.14 46 0.199
19 11617100 C T ECSIT ECSIT homolog 26.5929 Glu185Lys 0 C = 12994 0 5.4 56 0.999
19 11623977 T C ECSIT ECSIT homolog 26.5929 Asn211Ser 202141211 T = 13006 0 4.94 46 1
3 38645378 G T SCN5A Sodium channel, type V, alpha subunit 26.2725 Ala572Asp 36210423 T = 21/G = 12443 0 3.19 126 0.116
19 48257869 C T GLTSCR2 Glioma tumor suppressor candidate region gene 2 25.0259 Thr284Met 200463741 T = 58/C = 12146 0.0027 1.65 81 0.927
3 33633938 T C CLASP2 Cytoplasmic linker associated protein 2 21.537 Lys440Glu 0 T = 11976 0 5.68 56 0.525
9 131341997 T G SPTAN1 Spectrin, alpha, non-erythrocytic 1 21.2749 Ser435Ala 144787939 G = 26/T = 12980 0 5.35 99 0.614
2 238280543 C T COL6A3 Collagen, type VI, alpha 3 21.1203 Ala1373Thr 112181324 T = 12/C = 12994 0.0018 −0.587 58 0.635
5 122135444 A G SNX2 Sorting nexin 2 20.0545 Glu95Gly 141745241 G = 6/A = 13000 0 5.25 98 0
5 57755609 G C PLK2 Polo-like kinase 2 19.4331 His60Asp 140600076 C = 14/G = 12940 0 5.26 81 0.008
9 140006432 A G DPP7 Dipeptidyl-peptidase 7 18.8162 Met367Thr 78671427 G = 47/A = 12959 0.0018 3.97 81 0.946
2 39509689 T C MAP4K3 Mitogen-activated protein kinase 3 18.6804 Ile511Val 78142399 C = 57/T = 12949 0.0014 5.21 29 0.007
6 31600314 G C PRRC2A Proline-rich coiled-coil 2A 18.6379 Glu1288Asp 0 G = 8436 0 −2.26 45 0
  1. NB: Genes associated with a primary cardiac phenotype are shown bold.