Table 1 of Li, Mol Vis 2021; 27:309-322.

Table 1. Heterozygous GJA1 PPVs detected in our cohort.

Exon Position NM_000165 NM_000165 Allele In silico prediction gnomAD HGMD Ref
  at Chr6 change Effect Count REVEL CADD SIFT Poly-Phen-2 Provean (v2.1) AC    
2 121,768,117 c.124G>C p.E42Q 1 0.719 24.60 D D D / DM [23]
2 121,768,731 c.738_739delTT p.Y247Pfs*60 1 / / / / / / Novel None
2 121,768,784 c.791_792delAA p.K264Ifs*43 2† / / / / / / DM [22]
2 121,768,883 c.890_892delCTT p.S297del 1 / / / / / / Novel None

Note: D=damaging. “/”=not available, AC=allele count, DM=disease causing mutation, “†”=one was reported in our previous study [18]. Percentiles score of REVEL: 75%=0.612, 95%=0.882, percentiles score of CADD: 75%=23.80, 95%=27.31.

Li, Mol Vis 2021; 27:309-322. http://www.molvis.org/molvis/v27/309

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