Table 1 of Li, Mol Vis 2025; 31:23-32.

Table 1. Variants identified in candidate genes of keratoconus.

Family Gene Function Variant MAFa In silico analysisb ACMG Inherited
F01 CAST Missense NM_001750.7 0.00018 3/6 VUS Maternal
c.G1042T:p.A348S
F02 MYOF Missense NM_013451.4 0.00014 6/6 VUS Paternal
c.C1346T:p.T449I
F03 MPDZ Missense NM_001378778.1 0.00004 6/6 VUS Maternal
c.5678C>T:p.A1893V
F04 COL1A1 Missense NM_000088.4 0.00012 3/6 VUS Maternal
c.G3737A:p.R1246Q
ERMP1 Missense NM_024896.3 0.00006 3/6 VUS Maternal
c.G604A:p.A202T
F05 WNT10A Missense NM_025216.3 0 3/6 VUS Maternal
c.C965T:p.P322L
F06 MAP3K19 Missense NM_001018044.2 0.00002 5/6 VUS Maternal
c.C2948G:p.S983C
F07 TGFBI Missense NM_000358.3 0 3/6 VUS Paternal
c.G2006A:p.R669Q
F08 MYOF Missense NM_013451.4 0.000008 4/6 VUS Maternal
c.G2808C:p.Q936H
F09 WNT16 Frameshift NM_016087.2 0.00067 NA VUS Maternal
c.464dupG:p.C158Lfs*4
F10 COL5A1 Missense NM_000093.5 0 6/6 VUS Paternal
c.C4127T:p.S1376F
F14 COL1A1 Missense NM_000088.4 0.00003 5/6 VUS Maternal
c.G4039A:p.D1347N

a maximum MAF in 1000G, ExAC and gnomAD; bThe proportion of the variant predicted to be pathogenic or conserved in six tools including Mutation Taster, SIFT, Polyphen-2, CADD, REVEL and GERP++. Abbreviations: MAF, Minimum allele frequency; ACMG, American College of Medical Genetics and Genomics; VUS, Uncertain Significance.

Li, Mol Vis 2025; 31:23-32. http://www.molvis.org/molvis/v31/23

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