Table1 of Singh, Mol Vis 2016; 22:1036-1047.
Patient No. | Exon/ Intron | Type of mutation | c.DNA | Amino acid change | Rb presentation | Reference/ Novel |
---|---|---|---|---|---|---|
RB1 | Ex 1 | Indel | c.46_68delGCCGCCGCGGAACCCCCGGCACC | - | Unilateral | Novel |
RB2 | Ex 2 | Indel | c.178_182delTTATG | p.Leu60SerfsTer48 | Bilateral | 8651278b |
RB3 | Ex 4 | Indel | c.400_407delTTACTAAA | p.Leu134ArgfsTer3 | Bilateral | Novel |
RB4 | Int 5 | SS | c.539+1G>A | - | Unilateral | 10991691 b |
RB5 | Ex 6 | Indel | c.540-6_545delTAATAGGATATC | - | Bilateral | Novel |
RB6 | Ex 8-11 | LD | c.719-2574_1127+678delinsC | p.Lys240ArgfsTer3 | Unilateral | Novel |
RB7 | Ex 8 | NS | c.751C>T | p.Arg251Ter | Bilateral | 20447117 b |
RB8 | Int 9 | SS | c.940-1G>A | - | Bilateral | Novel |
RB9 | Ex 11 | NS | c.1072C>T | p.Arg358Ter | Bilateral | rs121913301a |
RB10 | Int 12 | SS | c.1215+1G>A | - | Bilateral | rs587776783 a |
RB11 | Ex 13 | Indel | c.1281delA | p.Glu428ArgfsTer29 | Unknown | Novel |
RB12 | Ex 14 | NS | c.1333C>T | p.Arg445Ter | Unilateral | rs121913302 a |
RB13 | Ex 14 | NS | c.1363C>T | p.Arg455Ter | Unilateral | rs121913302 a |
RB14 | Ex 14 | NS | c.1363C>T | p.Arg455Ter | Unknown | rs121913302 a |
RB15 | Ex 14 | NS | c.1363C>T | p.Arg455Ter | Bilateral | rs121913302a |
RB16 | Int 15 | Indel | c.1421+5_1421+17delTTTTTTACTTTT | - | Bilateral | Novel |
RB17 | Ex 17 | NS | c.1654C>T | p.Arg552Ter | Bilateral | 25742471 b |
RB18 | Ex 17 | MS | c.1689G>C | p.Trp563Cys | Unknown | 15605413 b |
RB19 | Int 17 | SS | c.1696-3T>G | p.Asp566ArgfsTer45 | Bilateral | Novel |
RB20 | Ex 18 | NS | c.1723C>T | p.Gln575Ter | Bilateral | rs587778864 a |
RB21 | Ex 18 | NS | c.1735C>T | p.Arg579Ter | Bilateral | rs121913305 a |
RB22 | Ex 18 | NS | c.1735C>T | p.Arg579Ter | Bilateral | rs121913305 a |
RB23 | Ex 19 | Indel | c.1953T > TA | p.K653fs | Bilateral | Novel |
RB24 | Ex 19 | Indel | c.1959_1960dupA | p.Val654SerFsTer14 | Bilateral | 15605413 b |
RB25 | Ex 20 | MS | c.2104C>A | p.Gln702Lys | Bilateral | 12541220 b |
RB26 | Ex 21 | MS | c.2134T>C | p.Cys712Arg | Unilateral | 9671401 b, 10486322 b |
RB27 | Int 22 | SS | c.2325+1G>A | - | Unknown | 15884040 b |
RB28 | Ex 23 | NS | c.2359C>T | p.Arg787Ter | Bilateral | rs137853293 a |
RB29# | Ex 24-27 | LD | c.(2479+1_2490-1)_(2787+1_2788-1)del | - | Bilateral | Novel |
RB30 | Ex 25 | LD | c.(2520+1_2521-1)_(2663+1_2664_1)del | - | Bilateral | Novel |
RB31 | Ex 25_27* | LD | c.2643_(*1915+3849)del | - | Bilateral | Novel |
RB32 | - | WGD | c.(?_-166)_(*1819_?)del | - | Unknown | cUnknown |
RB33 | - | WGD | c.(?_-166)_(*1819_?)del | - | Bilateral | cUnknwon |