PMID: 23940504

Corton M, Nishiguchi KM, Avila-Fernandez A, Nikopoulos K, Riveiro-Alvarez R, Tatu SD, Ayuso C, Rivolta C
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
PLoS One. 2013 Jun 14;8(6):e65574. doi: 10.1371/journal.pone.0065574. Print 2013., [PubMed]
Sentences
No. Mutations Sentence Comment
105 ABCA4 p.Val2050Leu
X
ABCA4 p.Val2050Leu 23940504:105:171
status: NEW
view ABCA4 p.Val2050Leu details
ABCA4 p.Ala762Glu
X
ABCA4 p.Ala762Glu 23940504:105:312
status: NEW
view ABCA4 p.Ala762Glu details
ABCA4 p.Glu1574*
X
ABCA4 p.Glu1574* 23940504:105:223
status: NEW
view ABCA4 p.Glu1574* details
 FAMILY ID INDEX PATIENT ID GENE (OMIM entry) NUCLEOTIDE CHANGE PROTEIN CHANGE NOVEL/KNOWN REFERENCE RP-0674 01-0570 ABCA4 c.287delA p.N96Tfs*19 novel (601691) c.6148G.C p.V2050L known [43] RP-0298 95-0103 ABCA4 c.4720G.T p.E1574* known [44] c.950delG p.G317Afs*57 novel RP-1102 07-0366 ABCA4 c.2285C.A (homoz) p.A762E known [45] RP-1164 07-0360 CHM (300390) c.863dupA p.M289Y*18 novel RP-1263 08-0177 USH2A c.920_923dupGCCA p.H308Qfs*16 known [46] (608400) c.12574C.T p.R4192C novel RP-1659 10-1367 CNGB3 c.1148delC p.T383Ifs*13 known [31] (605080) c.1666G.T p.E556* novel RP-1174 04-0834 CNGB3 c.1148delC (homoz) p.T383Ifs*13 known [31] RP-0137 1601 RP1 c.1625C.G p.S542* novel (603937) c.4804C.T p.Q1602* novel RP-0235 2343 RP1 c.5173C.T (homoz) p.Q1725* novel RP-1116 06-1075 NMNAT1 c.507G.A p.W169* known [47] (608700) c.769G.A p.E257K known [47] doi:10.1371/journal.pone.0065574.t001 clinical phenotype of the patients, and/or the sequencing/ mapping methods of NGS itself. Login to comment