Skip to main content

Table 1 Identified variants after the filtration procedure

From: Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families

Family Genotype gene OMIM No. Variant
KC001 het CDC42BPA 603,412 ENST00000334218:c.4586G > A:p.Arg1529Gln
LRRC16B 614,716 ENST00000342740:c.2290G > A:p.Asp764Asn
KC003 hom POLR2M 606,485 ENST00000299638:c.42G > C:p.Glu14Asp
het GHITM ENST00000372134:c.770 T > G:p.Val257Gly
MYOF 604,603 ENST00000359263:c.2906G > C:p.Cys969Ser
STX2 132,350 ENST00000392373:c.636 T > G:p.His212Gln
KC004 hom MLLT4 159,559 ENST00000400822:c.5381G > A:p.Gly1794Glu
KC005 het GOLGA4 602,509 ENST00000356847:c.779G > A:p.Gly260Asp
RPAP1 611,475 ENST00000304330:c.190G > A:p.Asp64Asn
NTN3 602,349 ENST00000293973:c.142G > T:p.Ala48Ser
TDRD12 ENST00000444215:c.1849 T > C:p.Trp617Arg
SPATA25 ENST00000372519:c.674C > G:p.Ser225Cys
KC007 het ZNF676 ENST00000397121:c.1240A > G:p.Ile414Val
KC008 het XIRP1 609,777 ENST00000340369:c.4G > A:p.Ala2Thr
COL6A5 611,916 ENST00000265379:c.5014 T > G:p.Phe1672Val
HLTF 603,257 ENST00000310053:c.2269G > T:p.Asp757Tyr
UTRN 128,240 ENST00000367545:c.9911C > A:p.Ser3304Tyr
TBATA 612,640 ENST00000299290:c.130C > T:p.Pro44Ser
KRTAP17–1 ENST00000334202:c.13C > G:p.Pro5Ala
SYCP2 604,105 ENST00000357552:c.1278A > T:p.Gln426His
KC010 hom NPIPB5 ENST00000424340:c.1353G > T:p.Lys451Asn
KC011 hom ZNF765 ENST00000396408:c.1133C > T:p.Thr378Ile