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Table 1 In silico analysis of identified variants in the LRTOMT gene

From: A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family

Variant/genomic

Location

Exon

Amio- acid alteration

Database

Software

SIFT

Mutation

Taster2.0

PROVEAN

PANTHER

c.509_524del

(CAGTGGCTGAAAAACT)

Frameshift mutation

(Long InDel)

6

A170Afs*20

1000 G

state

Deleterious

Disease-Causing

Deleterious

Deleterious

Not found

ExAC

Score

0.894

NA

−4.709

–

Not found