Table 2: List of mutations detected by next generation sequencing after applying relevant filters.

PatientGeneExonAllele stateNucleotide exchangeProtein effectrs IDConservationPolyohen 2SIFTPathogenicityNote

F303:
II.1 (CIC00445)
NPHP4 12HTZA>Gp.Ser481AsnnoN CBTNeutral
RP14HTZc.1625C>Gp.Ser542*Disease causingR M [12]
RP14HTZc.4587_4590delTAAGp.Ser1529Argfs*9Disease causingN M

F335:
III.1 (CIC00491)
PROM1 4HTZT>Cp.Ile178ValN CBTNeutral
GPR98 29HTZG>Ap.Arg2128Glnrs149390094N CBTNeutral
RP14HMZc.4089_4092delAAGAp.Arg1364Valfs*8Disease causingN M

F674:
III.6 (CIC01106)
USH2A 39HTZT>Gp.Ser2450ArgNoH CP DDProbably disease causing
RP14HMZc.1205delGp.Gly402Alafs*7Disease causingN M

F752:
II.1 (CIC01245)
USH1C 17HTZG>Ap.Arg477TrpTMP_ESP_11_17532053H CP DDProbably disease causing
PDE6B 10HTZT>Cp.Thr432IleH CBTUncertain pathogenicity
RP14HTZc.2025dupAp.Ser676Ilefs*22Disease causingN M
RP14HTZc.2377delAp.Arg793Glufs*55Disease causingN M

F782: II.5 (CIC01300)RP14HMZc.1719_1723delCTCAAp.Ser574Cysfs*7Disease causingN M
TULP1 5HMZc.395_418dupp.Asp124_Glu131delrs63749128Neutral

F1941: III.1 (CIC04130)PCDH15 33HTZC>Tp.Arg1889Hisrs145851144N CBTNeutral
C2orf71 1HTZC>Ap.Arg656Serrs201980758N CBTNeutral
CACNA2D4 Exon37-Intron 37HTZC>Trs80092457N CNeutral
RP14HMZc.1329delGp.Lys443Asnfs*12Disease causingN M

F3110:
III.5 (CIC05941)
EYS 6HTZC>Tp.Ser326Asnrs112822256N CBTNeutral
MERTK 8HTZC>Gp.Arg421Trprs138908058N CBDNeutral
PRPF6 21HTZA>Gp.Val915Metrs139778757M CP DDUncertain pathogenicity
TULP1 14HTZG>Ap.Ala496Thrrs141980901M CBDNeutral
EYS 26HTZG>Ap.Lys1365Glurs16895519N CBDNeutral
MERTK 18HTZG>Cp.Glu823Glnrs55924349M CBDNeutral
RP14HMZc.2391_2392delAAp.Asp799*Disease causingN M

Probably disease causing mutations are highlighted in bold.
B: benign, HMZ: homozygous, HTZ: heterozygous, M C: marginally conserved, N C: not conserved, N M: novel mutation, R M: recurrent mutation, T: tolerated, P.D: possibly damaging.