Table 1 TYR gene genotypes of OCA patients tested at University of Minnesota

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

MN15^a

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

MN26^a

c.820-7T>A, IVS1-7

c.1090A>C, p.N364H

MN27^a

c.732_733delTG, p.Cys244*

c.823G>T, p.V275F

MN28

c.1111A>T, p.N371Y

c.1118C>A, p.T373K

MN29^a

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

MN39^a

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

MN42^a

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

MN48^a

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

MN56^a

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