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Table 3 Pathogenic variations non-causing of retinitis pigmentosa

From: Gene panel sequencing in Brazilian patients with retinitis pigmentosa

Patient Age Gender Gene/disease causing variation Gene/pathogenic non disease causing variation Results
1 43 F None BBS9/c.666T > A p. Thr222Thr (heterozygous)
BBS9/c.2214C > T p. Ile738Ile (heterozygous)
PCDH15/c.608C > T p. Pro203Leu (heterozygous)
SAGc.473C > A p. Thr158Lys (heterozygous)
Inconclusive
2 47 F None CNGA3/C.942C > A p. Thr314Thr/Lys (heterozygous)
IQCB1/c.1393T > C p. Tyr465His (heterozygous)
MFRP/c.771C > T p. Arg257Arg (heterozygous)
MKS1/c.496C > T p. Arg166Cys (heterozygous)
USH2A/c. 13355T > C p. Leu4452Ser (heterozygous)
Inconclusive
3 73 M None CRB1/c.3210 C > A p. Ser1070Arg (heterozygous)
TRPM1/c. 1846-8C > G (heterozygous)
TRPM1/c. 1453G > C p. Glu485Gln (heterozygous)
Inconclusive
4 17 F None GPR98/c.7569A > G p. Thr523Thr (heterozygous)
GRM6/c.1706C > T p. Thr569Met (heterozygous)
LCA5/c.609A > G p. Leu203Leu (heterozygous)
PCDH15/c.2578C > T p. Arg860Trp (heterozygous)
SAG/c.271C > T p. Arg91Trp (heterozygous)
SDCCAG8/c.968G > A p. Arg323Lys (heterozygous)
SLC24A1/c.2002C > T p. Arg668Cys (heterozygous)
Inconclusive
7 59 F None GUCY2D/c.2179G > A p. Gly727Ser (heterozygous)
MKKS/c.760G > T p. Asp254Tyr (heterozygous)
PDE6B/c. 1653C > T p. Tyr551Tyr (heterozygous)
PDE6C/c.986A > C p. Glu329Ala (heterozygous)
RBP3/c.2556C > T p. Ala852Ala (heterozygous)
RIMS1/c.3959C > A p. Ser1320Tyr (heterozygous)
Inconclusive
11 20 F None CDH23 c.367G > A p. Gly123Arg (heterozygous)
CDH23 c.7132G > A p. Gly2378Arg (heterozygous)
CDHR1 c.155C > T p. Ser52Phe (heterozygous)
CERKL c.589G > T p. Ala197Ser (heterozygous)
FAM161A c.1133T > G p. Leu378Arg (heterozygous)
RPGRIP1 c.256C > T p. Arg86Trp (heterozygous)
USH2A c.5039A > G p. Lys1680Arg (heterozygous)
Inconclusive
13 39 M None N/A Negative
  1. N/A not applicable, F female, M male
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