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Table 1 Prediction of pathogenicity of the identified heterozygous variant c.2161C>T, p. Gln721Ter in the DNM1L gene

From: A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review

Gene

variant

Mutation Taster

FATHMM_MKL

CADD_Phred

Score

Prediction

Score

Prediction

Score

Prediction

DNM1L

(NM_012062.5)

c.2161C>T,

p.Gln721Ter

0.999

D

0.992

D

46

D

  1. D Damaging
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BMC Pediatrics

ISSN: 1471-2431

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