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Table 1 TYR gene genotypes of OCA patients tested at University of Minnesota
| Patient ID | Allele 1 | Allele 2 |
|---|---|---|
| MN1 | c.1118C>A, p.T373K | |
| MN2 | c.1118C>A, p.T373K | |
| MN3 | c.1118C>A, p.T373K | |
| MN4 | c.665T>C, p.I222T | |
| MN5 | c.1118C>A, p.T373K | |
| MN6 | c.446A>G, p.Y149C | |
| MN7 | c.242C>T, p.P81L | |
| MN8 | c.140G>A, p.G47D | |
| MN9 | c.346C>T, p.R116* | |
| MN10 | c.832C>T, p.R278* | |
| MN11 | c.650G>A, p.R217Q | |
| MN12 | c.286dupA, p.M96Nfs*73 | |
| MN13 | c.71G>A, p.C24Y | |
| MN14 | c.1037-7T>A, IVS2-7 | |
| MN15a | c.820-2A>G, IVS1-2 | |
| MN16 | c.572delG, p.G191Dfs*35 | |
| MN17 | c.1467dupT, p.A490Cfs*20 | |
| MN18 | c.242C>T, p.P81L | |
| MN19 | c.1118C>A, p.T373K | |
| MN20 | c.823G>T, p.V275F | |
| MN21 | c.1366+4 A>G, IVS4+4 | |
| MN22 | c.1366+4 A>G, IVS4+4 | |
| MN23 | c.242C>T, p.P81L | c.649C>T, p.R217W |
| MN24 | c.929dupC, p.R311Kfs*7 | c.929dupC, p.R311Kfs*7 |
| MN25 | c.140G>A, p.G47D | c.140G>A, p.G47D |
| MN26a | c.820-7T>A, IVS1-7 | c.1090A>C, p.N364H |
| MN27a | c.732_733delTG, p.Cys244* | c.823G>T, p.V275F |
| MN28 | c.1111A>T, p.N371Y | c.1118C>A, p.T373K |
| MN29a | c.1184+1 G>A, IVS3+1 | c.1184+1 G>A, IVS3+1 |
| MN30 | c.140G>A, p.G47D | c.140G>A, p.G47D |
| MN31 | c.1118C>A, p.T373K | c.1467dupT, p.A490Cfs*20 |
| MN32 | c.661G>A, p.E221K | c.1118C>A, p.T373K |
| MN33 | c.1A>G, p.M1? | c.1217C>T, p.P406L |
| MN34 | c.242C>T, p.P81L | c.1204C>T, p.R402* |
| MN35 | c.896G>A, p.R299H | c.1199G>T, p.W400L |
| MN36 | c.242C>T, p.P81L | c.1036+2T>G, IVS2+2 |
| MN37 | c.1217C>T, p.R406L | c.1392dup, p.Lys465* (novel) |
| MN38 | c.832C>T, p.R278* | c.1264C>T, p.R422W |
| MN39a | c.32G>A, p.W11* | c.895C>A, p.R299S |
| MN40 | c.606T>G, p.H202Q | c.1036+2T>G, IVS2+2 |
| MN41 | c.242C>T, p.P81L | c.1118C>A, p.T373K |
| MN42a | c.572delG, p.G191Dfs*35 | c.1150C>G, p.P384A |
| MN43 | c.1037-7T>A, IVS2-7 | c.1037-1G>A, IVS2-1 |
| MN44 | c.242C>T, p.P81L | c.1204C>T, p.R402* |
| MN45 | c.1118C>A, p.T373K | c.1147G>A, p.D383N |
| MN46 | c.242C>T, p.P81L | c.1037-7T>A, IVS2-7 |
| MN47 | c.242C>T, p.P81L | c.1217C>T, p.P406L |
| MN48a | c.149C>T, p.S50L | c.892C>T, p.R298W |
| MN49 | c.678 680delAGG, p.G227del | c.1118C>A, p.T373K |
| MN50 | c.613C>A, p.P205T | c.823G>T, p.V275F |
| MN51 | c.650G>A, p.R217Q | c.1118C>A, p.T373K |
| MN52 | c.71G>A, p.C24Y | c.758G>A, p.G253E |
| MN53 | c.242C>T, p.P81L | c.1111A>T, p.N371Y |
| MN54 | c.1147G>A, p.D383N | c.1309G>A, p.D437N |
| MN55 | c.823G>T, p.V275F | c.1118C>A, p.T373K |
| MN56a | c.895C>T, R299C | c.1199G>T, W400L |
| MN57 | c.1265G>A, p.R422Q | c.1467dupT, p.A490Cfs*20 |
| MN58 | c.1118C>A, p.T373K | c.1209G>T, p.R403S |
| MN59 | c.229C>T, p.R77W | c.572delG, p.G191Dfs*35 |
| MN60 | c.140G>A, p.G47D | c.650G>A, p.R217Q |
| MN61 | c.896G>A, p.R299H | c.896G>A, p.R299H |
| MN62 | c.649C>T, p.R217W | c.1118C>A, p.T373K |
| MN63 | c.230G>A, p.R77Q | c.230G>A, p.R77Q |
| MN64 | c.1118C>A, p.T373K | c.1118C>A, p.T373K |
| MN65 | c.1146C>A, p.N382K | c.649delC, p.R217Gfs*9 |
| MN66 | c.230G>A, p.R77Q | c.230G>A, p.R77Q |
| MN67 | c.642 644delCTT, p.F214del | c.930_931insG, p.R311Efs*7 (novel) |
| MN68 | c.650G>A, p.R217Q | c.823G>T, p.V275F |
