Table 1 List of mutations detected in families
FamilyReported MAF in Public DatabasesNovel/KnownGenePosition in hg19Nucleotide ChangeProtein ChangePhyloP ScorePolyphen-2 (HumDiv)SIFTSegregation/PenetranceInheritanceACMG
CSA950NovelGJA3chr13:20717372c.56C > Tp.(Thr19Met)6.141PDDYes/ FullADLP
CSA1090NovelGJA3chr13:20716962c.466A > Cp.(Lys156Gln)3.268PDDYes/ FullADUS
CRCH200NovelGJA8chr1:147380155c.73T > Cp.(Trp25Arg)4.833PDDYes/ IncompleteADLP
CSA1250NovelGJA8chr1:147380566c.484G > Ap.(Glu162Lys)5.784PDDYes/ FullADUS
CSA1620Known (Vanita et al. 2008) (Ma et al. 2016)GJA8chr1:147380216c.134G > Cp.Trp45Ser5.786PDDYes/ FullADP
CSA1590NovelCRYAAchr21:44592307c.440delAp.(Gln147Argfs*48)NANANAYes/ FullADP
CRVEEH111gnomAD: 0.00003231Known (Khan et al. 2007) (Devi et al. 2008)CRYAAchr21:44589369c.160C > Tp.(Arg54Cys)4.982PDTYes/ FullADP
CSA940NovelCRYGSchr3:186257377-78c.30_31delCTinsAAp.(Phe10_Tyr11delinsLeuAsn)NAPDDYes/ FullADUS
CRCH139ExAc:0.00428 gnomAD: 0.003861 dbSNP:0.0022 (rs139353014)NovelCRYGAchr2:209027941c.239G > Ap.(Arg80His)0.799PDTYes/ IncompleteADLB
ExAc: 0.001816 gnomAD: 0.001904 dbSNP: 0.0006 (rs79006549)NovelPVRL3chr3:110841054c.886A > Cp.(Asn296His)4.027PDDNoUS
CSA1330Known (Litt et al. 1997)CRYBB2chr22:25627584c.463C > Tp.(Gln155*)NANADYes/ FullADP
CRVEEH850NovelCRYBB2chr22:25627684c.563G > Tp.(Arg188Leu)5.11PDDYes/ FullADLP
ExAC: 8.489 × 10−6 gnomAD:4.085 × 10−6NovelBFSP2chr3:133191301c.1136C > Ap.(Ala379Glu)0.366BTYes/ FullUS
CRCH890NovelGCNT2chr6:10626722c.1091T > Cp.(Phe364Ser)4.256PDDYes/ homozygous in cases/FullARLP
CRCH1360NovelGCNT2chr6:10626796c.1169_1172delATCAp.(Asn388Arg*20)NANANAYes/ heterozygous in cases/NAARUS
CSA1310NovelMIPchr12:56845225c.631G > Tp.(Gly211*)NANANAYes/FullADUS
gnomAD: 0.00002439NovelFYCO1chr3:46009288c.1538G > Ap.(Arg513Gln)BTNoUS
  • 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).