Table 1. List of mutations detected in families.
| Family | Reported MAF in Public Databases | Novel/Known | Gene | Position in hg19 | Nucleotide Change | Protein Change | PhyloP Score | Polyphen-2 (HumDiv) | SIFT | Segregation/Penetrance | Inheritance | ACMG |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CSA95 | 0 | Novel | GJA3 | chr13:20717372 | c.56C > T | p.(Thr19Met) | 6.141 | PD | D | Yes/ Full | AD | LP |
| CSA109 | 0 | Novel | GJA3 | chr13:20716962 | c.466A > C | p.(Lys156Gln) | 3.268 | PD | D | Yes/ Full | AD | US |
| CRCH20 | 0 | Novel | GJA8 | chr1:147380155 | c.73T > C | p.(Trp25Arg) | 4.833 | PD | D | Yes/ Incomplete | AD | LP |
| CSA125 | 0 | Novel | GJA8 | chr1:147380566 | c.484G > A | p.(Glu162Lys) | 5.784 | PD | D | Yes/ Full | AD | US |
| CSA162 | 0 | Known (Vanita et al. 2008) (Ma et al. 2016) | GJA8 | chr1:147380216 | c.134G > C | p.Trp45Ser | 5.786 | PD | D | Yes/ Full | AD | P |
| CSA159 | 0 | Novel | CRYAA | chr21:44592307 | c.440delA | p.(Gln147Argfs*48) | NA | NA | NA | Yes/ Full | AD | P |
| CRVEEH111 | gnomAD: 0.00003231 | Known (Khan et al. 2007) (Devi et al. 2008) | CRYAA | chr21:44589369 | c.160C > T | p.(Arg54Cys) | 4.982 | PD | T | Yes/ Full | AD | P |
| CSA94 | 0 | Novel | CRYGS | chr3:186257377-78 | c.30_31delCTinsAA | p.(Phe10_Tyr11delinsLeuAsn) | NA | PD | D | Yes/ Full | AD | US |
| CRCH139 | ExAc:0.00428 gnomAD: 0.003861 dbSNP:0.0022 (rs139353014) | Novel | CRYGA | chr2:209027941 | c.239G > A | p.(Arg80His) | 0.799 | PD | T | Yes/ Incomplete | AD | LB |
| ExAc: 0.001816 gnomAD: 0.001904 dbSNP: 0.0006 (rs79006549) | Novel | PVRL3 | chr3:110841054 | c.886A > C | p.(Asn296His) | 4.027 | PD | D | No | US | ||
| CSA133 | 0 | Known (Litt et al. 1997) | CRYBB2 | chr22:25627584 | c.463C > T | p.(Gln155*) | NA | NA | D | Yes/ Full | AD | P |
| CRVEEH85 | 0 | Novel | CRYBB2 | chr22:25627684 | c.563G > T | p.(Arg188Leu) | 5.11 | PD | D | Yes/ Full | AD | LP |
| ExAC: 8.489 × 10−6 gnomAD:4.085 × 10−6 | Novel | BFSP2 | chr3:133191301 | c.1136C > A | p.(Ala379Glu) | 0.366 | B | T | Yes/ Full | US | ||
| CRCH89 | 0 | Novel | GCNT2 | chr6:10626722 | c.1091T > C | p.(Phe364Ser) | 4.256 | PD | D | Yes/ homozygous in cases/Full | AR | LP |
| CRCH136 | 0 | Novel | GCNT2 | chr6:10626796 | c.1169_1172delATCA | p.(Asn388Arg*20) | NA | NA | NA | Yes/ heterozygous in cases/NA | AR | US |
| CSA131 | 0 | Novel | MIP | chr12:56845225 | c.631G > T | p.(Gly211*) | NA | NA | NA | Yes/Full | AD | US |
| gnomAD: 0.00002439 | Novel | FYCO1 | chr3:46009288 | c.1538G > A | p.(Arg513Gln) | B | T | No | US |
MAF, minor allele frequency; PD, probably damaging; D, damaging; AD, autosomal dominant; LP, likely pathogenic; US, uncertain significance; P, pathogenic; NA, not applicable; T, tolerated; LB, likely benign; B, benign; AR, autosomal recessive. GenBank accession numbers are shown in Table S1 in File S1. Zero in second column indicates that the variant was not present in all three databases (ExAC, genome ID and dbSNP).