Table 1 Variants in the mitochondria associated with drDCM

ECHS1_chr10: 135186806

rs10466126 GTC ⇒ GCC

11 V/A V [Val] ⇒ A[Ala]

1.63329

0.00135

0.013927

A = 0.2448 (ExAC), A = 0.3241 (1000 Genomes), A = 0.3952 (GO-ESP)

missense, upstream variant 2 KB

ECHS1: chr10: 135184126

rs1049951 ACC ⇒ ATC

75 T/I T [Thr] ⇒ I [Ile]

1.63329

0.00135

0.013927

G = 0.0869/10314 (ExAC), G = 0.1787/895 (1000 Genomes), G = 0.1987/2583 (GO-ESP)

missense

DBT chr1:100672060

rs12021720 GGT ⇒ AGT

384G/S G [Gly] ⇒ S [Ser]

0.955072

0.00545

0.0368792

T = 0.0862/10470 (ExAC), T = 0.1082/542 (1000 Genomes), T = 0.1408/1831 (GO-ESP)

missense

MCCC1 chr3:183037421

rs2270968 CAC ⇒ CCC

329H/P H [His] ⇒ P [Pro]

1.61882

0.0001

0.00205554

T = 0.3752/45346 (ExAC), G = 0.4649/2328 (1000 Genomes), T = 0.4152/5400 (GO-ESP)

intron variant, missense, nc transcript variant