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Table 3 List of mutations identified in ID families

From: Exome sequencing identifies novel and known mutations in families with intellectual disability

Family ID MRID137a MRID137b MRID143 MRID149 MRID165 MRID170 MRID175
Gene GNE CCS C5orf42 ARX IL1RAPL1 METTL4 ELFN1
Genomic Change (hg19) Chr9:36246178A>G Chr11:66367029G>C Chr5:37138841G>A ChrX:25023020delAAAAGAGCC ChrX: ~ 0.2 Mb del Chr18:2566966G>A Chr7:1784381C>A
Transcript ID NM_001190383.3 NM_005125.2 NM_023073.4   NM_014271.4 NM_022840.5 NM_001128636.4
cDNA Change c.466T>C c.350G>C c.8611C>T c.1449-1_1456del c.250C>T c.149C>A
Amino acid change p.(Tyr156His) p.(Gly117Ala) p.(Gln2871*) p.(Arg483Serfs*46) Δex6 p.(Arg84*) p.(Pro50His)
gnomAD Exome 7.96E−06 3.19E−04 0 0 4.4E−05 0
gnomAD Genome 0 3.19E−05 0 0 0 0
gnomAD (South Asian) 6.53E−05 2.6E−03 0 0 2.3E−04 0
Bioinformatics tools showing damaging results SI, LRT, MT, Fa, PR, mSVM, mLR, M-CAP   MT, Fa MT MT SI, MT, PR, M-CAP, Fa, MA (M)
  1. Fa = FATHMM, LRT = likelihood ratio test, MA = MutationAssessor, mLR = meta-logistic regression, mSVM = meta-support vector machine, MT = MutationTAster, PR = PROVEAN, SI = SIFT