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Table 2 Conclusive results in 9 (56%) of 16 patients

From: Gene panel sequencing in Brazilian patients with retinitis pigmentosa

Patient Age Gender Gene/disease causing variation Gene/non pathogenic variation Results
5 64 M CRB1/c.1436 T > C Leu479Pro Homozygous+ CNGA1/c.1315G > A Val439Met (heterozygous)
FSCN2/c.229G > A Val77Met (heterozygous)
PHYH/c.734G/A Arg245Gln (homozygous)
Probably positive (ARRP)
9 27 F ROM1/c.671C > T Pro224Leu Heterozygous+ ABCA4/c.3759G > A p. Thr1253Thr (heterozygous)
CEP290/c.1298A > G p. Asp433Gly (heterozygous)
GRM6/c.1791C > T Ille597Ille (heterozygous)
OPA3/c.135G > A p. Pro45Pro (heterozygous)
OTX2/c.126C > A p. Thr42Thr (heterozygous)
PITPNM3/c.1671C > T p. Tyr557Tyr (heterozygous)
PRPF8/c.708G > A p. Ser236Ser (heterozygous)
Probably positive (ADRP)
12 35 F PDE6B/c.3G > T p. Met1Ile, and c.313G > A p. Glu105Lys Heterozygous+ ABCA4 c.1029T > C p. Asn343Asn (heterozygous)
CDHR1 c.1849G > A p. Ala617Thr (heterozygous)
USH2A c.12823T > A p. Ser4275Thr (heterozygous)
ZNF513 c.96G > C p. Leu32Leu (heterozygous)
Probably positive (ARRP)
15 53 M SNRNP200/c.2359G > A p. Ala787Thr Heterozygous+ CNGA3 c.943G > A p. Asp315Asn (heterozygous)
GRM5 c.1732C > T p. Arg578Cys (heterozygous)
MERTK c.61 + 3G > C (heterozygous)
PCDH15 c.2596G > A p. Val866Met (heterozygous)
SEMA4A c.405T > C p. Asn135Asn (heterozygous)
Probably positive (ADRP)
16 39 M PRPF31/c.906_907insGCCAAGTGCACACTGGCAGCC Heterozygous+ BBS12 c.116T > C p. Ile39Thr (heterozygous)
CDH23 c.7722C > T p. Tyr2574Tyr (heterozygous)
RP1L1 c.4620G > C p. Glu1540Asp (heterozygous)
USH2A c.2276G > T p. Cys759Phe (heterozygous)
Probably positive (ADRP)
6 39 M RPGR/c.905G > C p. Cys302Ser Hemizygous+ CRB1/c.614T > C p. Ile205Thr (heterozygous)
CYP4V2/c.40C > G p. Leu14Val (heterozygous)
PRPF8/c.4707G > A p. Leu1569Leu (homozygous)
RD3/c.560C > A p. Pro187His (heterozygous)
RPGRIP1/c.3402_3404delGTC (heterozygous)
Positive (XLRP)
8 40 M RPGR/c.1243_1244delAG Hemizygous+ BBS12/c.355G > A p. Gly119Ser (heterozygous)
CDH23/c.6852G > C p. Leu2284Leu (heterozygous)
USH1C/c.566G > A p. Arg189Gln (heterozygous)
Positive (XLRP)
10 37 F RHO/c.568G > A p. Asp190Asn Heterozygous+ CNGB1/c.2681G > A p. Arg894His (heterozygous)
CRB1/c.614T > C p. Ile205Thr (heterozygous)
GPR179/c.4597G > A p. Glu1533Lys (heterozygous)
GUCY2D/c.2765A > G p. Tyr922Cys (heterozygous)
Positive (ADRP)
14 54 M NR2E3 c.166G > A p. Gly56Arg Heterozygous+ ALMS1 c.5294A > G p. Asn1765Ser (heterozygous)
CACNA1F c.5050G > T p.Gly1684Trp (hemizygous)
CDH23 c.6713-8G > A (heterozygous)
CDH23 c.10026C > T p. Asp3342Asp (heterozygous)
CEP290 c.1716A > G p. Leu572Leu (heterozygous)
CEP290 c.1558T > C p. Phe520Leu (heterozygous)
CNGB1 c.165C > T p. Pro55Pro (heterozygous)
FAM161A c.1851 + 22G > A (heterozygous)
FSCN2 c.576C > T p. Arg192Arg (heterozygous)
LCA5 c.1323C > T p. Tyr441Tyr (heterozgous)
RBP3 c.3546C > T p. His1182His (heterozygous)
USH2A c.14226G > A p. Thr4742Thr (heterozygous)
Positive (ADRP)
  1. Molecular features of 9 retinitis pigmentosa patients with probably positive and positive results
  2. F female, M male, ARRP autosomal recessive retinitis pigmentosa, ADRP autosomal dominant retinitis pigmentosa, XLRP X-linked retinitis pigmentosa
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