c.5603A>T genotype | Pathogenic ABCA4 variant | No. of cases | c.5603A>T genotype | Pathogenic ABCA4 variant | No. of cases |
++ | c.1027_1028del (p.Asn343*) | 1 | +/− | c.6229C>T (p.Arg2077Trp) | 2 |
++ | c.2069del (p.Gly690fs) | 1 | +/− | c.6386+1G>A (p.?) | 1 |
++ | c.3754G>T (p.Glu1252*) | 1 | +/− | c.6386+2C>G (p.?) | 1 |
++ | c.4469G>A (p.Cys1490Tyr) | 1 | +/− | c.6543_6578del (p.Leu2182_Phe2193del) | 1 |
++ | c.5461–10T>C (p.?) | 6 | −/− | c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val]) | 1 |
+/− | c.45G>A (p.Trp15*) | 1 | −/− | c.[3758C>T;5882G>A] (p.[Thr1253Met;Gly1961Glu]) | 1 |
+/− | c.52C>T (p.Arg18Trp) | 1 | −/− | c.[5882G>A;6445C>T] (p.[Gly1961Glu;Arg2149*]) | 1 |
+/− | c.161–1G>A (p.?) | 1 | −/− | c.[735T>G;2300T>A] (p.[Tyr245*;Val767Asp]) | 1 |
+/− | c.161G>A (p.Cys54Tyr) | 2 | −/− | c.161G>A (p.Cys54Tyr) | 1 |
+/− | c.247_250dup (p.Ser84fs) | 2 | −/− | c.184C>T (p.Pro62Ser) | 1 |
+/− | c.262G>A (p.Gly88Arg) | 1 | −/− | c.247_250dup (p.Ser84fs) | 1 |
+/− | c.571–1G>T (p.?) | 1 | −/− | c.634C>T (p.Arg212Cys) | 2 |
+/− | c.655A>T (p.Arg219*) | 1 | −/− | c.733T>C (p.Tyr245His) | 1 |
+/− | c.868C>T (p.Arg290Trp) | 1 | −/− | c.1034A>G (p.Tyr345Cys) | 1 |
+/− | c.1222C>T (p.Arg408*) | 1 | −/− | c.1699G>A (p.Val567Met) | 1 |
+/− | c.[1622T>C;3113C>T] (p.[L541P;A1038V]) | 8 | −/− | c.2041C>T (p.Arg681*) | 1 |
+/− | c.1804C>T (p.Arg602Trp) | 1 | −/− | c.2616del (p.Leu274fs) | 1 |
+/− | c.1903C>T (p.Gln635*) | 1 | −/− | c.2966T>C (p.Val989Ala) | 2 |
+/− | c.1906C>T (p.Gln636*) | 1 | −/− | c.2971G>C (p.Gly991Arg) | 1 |
+/− | c.1921T>C (p.Cys641Arg) | 1 | −/− | c.3043T>C (p.Phe1015Leu) | 1 |
+/− | c.1957C>T (p.Arg653Cys) | 1 | −/− | c.3113C>T(p.Ala1038Val) | 2 |
+/− | c.2588G>C (p.Gly863Ala) | 2 | −/− | c.3148G>A (p.Gly1050Ser) | 2 |
+/− | c.2894A>G (p.Asn965Ser) | 2 | −/− | c.3292C>T (p.Arg1098Cys) | 1 |
+/− | c.3259G>A (p.Glu1087Lys) | 1 | −/− | c.3322C>T (p.Arg1108Cys) | 1 |
+/− | c.3261A>C (p.Glu1087Asp) | 1 | −/− | c.4139C>T (p.Pro1380Leu) | 1 |
+/− | c.3328+1G>A (p.?) | 1 | −/− | c.4248C>A (p.Phe1416Leu) | 1 |
+/− | c.[3481C>A;5714+5G>A] (p.[Arg1161Ser;?]) | 1 | −/− | c.4353–4T>C (p.?) | 1 |
+/− | c.3812A>G (p.Glu1271Gly) | 1 | −/− | c.4577C>T (p.Thr1526Met) | 2 |
+/− | c.3846del (p.Gly1283fs) | 1 | −/− | c.4793C>A (p.Ala1598Asp) | 1 |
+/− | c.4139C>T (p.Pro1380Leu) | 2 | −/− | c.4918C>T (p.Arg1640Trp) | 1 |
+/− | c.[4222T>C;4918C>T] (p.[Trp1408Arg;Arg1640Trp]) | 1 | −/− | c.5312+1G>A (p.?) | 1 |
+/− | c.4234C>T (p.Gln1412*) | 2 | −/− | c.5714+5G>A (p.?) | 3 |
+/− | c.4249_4251del (p.Phe1417del) | 1 | −/− | c.5761G>A (p.Val1921Met) | 1 |
+/− | c.4670A>G (p.Tyr1557Cys) | 1 | −/− | c.5881G>A (p.Gly1961Arg) | 1 |
+/− | c.4918C>T (p.Arg1640Trp) | 2 | −/− | c.5882G>A (p.Gly1961Glu) | 5 |
+/− | c.5196+1G>A (p.?) | 1 | −/− | c.6088C>T (p.Arg2030*) | 1 |
+/− | c.5395A>G (p.Asn1799Asp) | 1 | −/− | c.6089G>A (p.Arg2030Gln) | 1 |
+/− | c.5461–10T>C (p.?) | 4 | −/− | c.6229C>T (p.Arg2077Trp) | 1 |
+/− | c.5923G>C (p.Gly1975Arg) | 1 | −/− | c.6320G>A (p.Arg2107His) | 4 |
+/− | c.6166A>T (p.Lys2056*) | 1 | −/− | c.6694G>A (p.Glu2232Lys) | 1 |
Nucleotide positions and protein translation correspond to CCDS747.1 and NP_000341.2, respectively. Nucleotide numbering uses the A of the ATG translation initiation start site as nucleotide 1. Number of cases indicates the number of individuals with identical genotypes.