Table 1 of
Huckfeldt, Mol Vis 2020; 26:423-433. Table 1 of
Huckfeldt, Mol Vis 2020; 26:423-433.
Table 1. Genotypes and clinical diagnoses.
| Patient | Allele 1 | Allele 2 | Diagnosis | Symptom onset (y) |
|---|---|---|---|---|
| MEE1a | c.606C>A; p.(Asp202Glu) [43] | c.606C>A; p.(Asp202Glu) | MD | 30 |
| MEE2a | c.606C>A; p.(Asp202Glu) [43] | c.606C>A; p.(Asp202Glu) | RP | 25 |
| MEE3 | c.606C>A; p.(Asp202Glu) [43] | c.606C>A; p.(Asp202Glu) | RP | 22 |
| MEE4b | c.606C>A; p.(Asp202Glu) [43] | c.606C>A; p.(Asp202Glu) | CRD | 20 |
| MEE5b | c.126G>A; p.(Lys42Asn)c | c.312_315delCCTA; p.(Leu105Valfs*10)c | RP | 30 |
| MEE7 | c.1462delG; p.(Glu488Lysfs*44) [26] | c.1462delG; p.(Glu488Lysfs*44) | RP | 4 |
| MEE8 | c.3428delA; p.(Asn1143Ilefs*25) [19] | c.3428delA; p.(Asn1143Ilefs*25) | RP | 7 |
| MEE9 | c.4788delT; p.(Asp1597Thrfs*29)c | c.4788delT; p.(Asp1597Thrfs*29) | RP | 4 |
| MEE10 | c.668del; p.(Gly223Glufs*41)c | c.1126C>T; p.(Arg376*) [49] | RP | 5 |
| MEE11b | c.668del; p.(Gly223Glufs*41)c | c.1468G>T; p.(Glu490*)c | RP | 5 |
| MEE12b | c.1234dupA; p.(Met412Asnfs*7) [24] | c.4171delC; p.(Gln1391Lysfs*7)c | RP | 4 |
| MEE13b | c.491C>G; p.(Pro164Arg)c | c.1199_1200del; p.(Gln400Argfs*18)c | RP | 28 |
| CEI23745 | c.515T>G; p.(Leu172Arg) [44] | c.3155delT; p.(Tyr1053Thrfs*4) [16] | RP | 27 |
| CEI26396b | c.5017delC; p.(Tyr1673Metfs*37)c | c.5017delC; p.(Tyr1673Metfs*37) | LCA | 6 |
| CEI26528a,b | c.515T>G; p.(Leu172Arg) [44] | c.4582_4585delATCA; p.(Ile1528Valfs*10) [50] | CRD | 12 |
| CEI26529a,b | c.515T>G; p.(Leu172Arg) [44] | c.4582_4585delATCA; p.(Ile1528Valfs*10) [50] | CRD | 13 |
| CEI29023b | c.515T>G; p.(Leu172Arg) [44] | c.1598_1601del; p.(Arg533Lysfs*12) [26] | EOSRD | 10 |
| CEI24459 | c.139dup; p.(Gln47Profs*15)c | c.5248G>T; p.(Glu1750*) [15] | RP | 15 |
| CEI29345 | c.121T>C, p.(Tyr41His) [26] | c.515T>G; p.(Leu172Arg) [44] | RP | 16 |