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Table 1 Summary of coding variants identified through exome sequencing

From: Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology

A

ALL

KNOWN

NOVEL

Ti/Tv

Total

Het

Hom

Total

Het

Hom

Total

Het

Hom

3.0

17328

10277

7051

17048

10012

7036

280

265

15

B

ALL

KNOWN

NOVEL

INSERTION

DELETION

HET

HOM

NOVEL HOM

427

342

85

228

199

239

188

4

  1. A: Single nucleotide variants and B: small insertions and deletions. Variants are listed as novel if not present in dbSNP137.