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
|