Mutation (cDNA level)a
Mutation (protein level)
Other designations used in original publications
Exon
Genotype
EBS-MD
954_956dupGCT
L319dup
956ins3, 1008ins3, 1287ins3
9
c.het. (Q1408X)
968G>A
R323Q
9
c.het. (E1614X)
1530_1531ins36
A510_I511ins12
1530ins36, 1537ins36, 1541ins36
14
c.het. (2677_2685del9)
2677_2685del
Q893_A895del
2668del9, 2674del9, 2677del9, 2719del9
21
hom., c.het. (1530_1531ins36), c.het. (Q1644X)
2694-9_2705del
?b
2694-9del21, 2745-9del21
i21-22
c.het. (5032delG)
3157C > T
Q1053X
24
c.het. (Q1936X)
3341+1G>T
? b
i26
c.het. (R2319X)
4126-4A>G
? b
i30
c.het. (Q2602X)
4222C>T
Q1408X
Q1518X
31
c.het. (L319dup)
4261C>T
Q1421X
31
hom.
4294_4306dup
V1436GfsX40
4306ins13, 4359ins13
31
c.het. (4365delC)
4348C>T
Q1450X
31
hom.
4365delC
S1456RfsX93
4416delC
31
c.het. (4294_4306dup13)
4643_4667dup
K1558GfsX89
R1556fs
31
c.het. (Q2374X)
4840G>T
E1614X
31
hom., c.het. (R323Q)
4930C>T
Q1644X
31
c.het. (2677_2685del)
5018_5036del
L1673RfsX64
5018del19, 5069del19
31
hom.
5032delG
V1678WfsX65
5083delG
31
c.het. (2694-9_2505del)
5105_5112del
R1702QfsX14
5105del8, 5148del8
31
hom.
5137C>T
Q1713X
5188C>T
31
c.het. (R2351X)
5257dupG
E1753GfsX17
5257insG, 5309insG, 5588insG
31
hom.
5410G>T
E1804X
E1914X
31
hom.
5728C>T
Q1910X
31
hom.
5770C>T
Q1924X
31
c.het., not defined
5806C>T
Q1936X
31
c.het. (Q1053X)
5815delC
L1939WfsX6
5866delC
31
hom.
5849_5856dup
E1953WfsX8
5855ins8, 5907ins8
31
hom.
5854_5855del
E1952GfsX60
5854del2, 5905del2
31
hom.
6013G>T
E2005X
31
c.het. (K4460X)
6549_6582del
L2184RfsX21
A2183fs
31
c.het. (13040dupG)
6682C>T
Q2228X
31
c.het. (Q3486X)
6955C>T
R2319X
31
hom., c.het. (3341+1G>T)
7051C>T
R2351X
7102C>T
31
c.het. (Q1713X)
7120C>T
Q2374X
31
c.het. (4643_4667dup)
7261C>T
R2421X
31
c.het. (12578_12581dup)
7393C > T
R2465X
31
hom.
7804C>T
Q2602X
32
c.het. (4126-4A>G)
10456C>T
Q3486X
32
c.het. (Q2228X)
12578_12581dup
Y4195DfsX41
12581ins4, 12633ins_4
32
c.het. (R2421X)
13040dupG
I4348HfsX8
G4347fs
32
c.het. (6549_6582del)
13378A>T
K4460X
32
c.het. (E2005X)
13459_13474dup
E4492GfsX48
13473ins16, 13480ins16, 13803ins16
32
hom.
EBS-MD-MyS
1122+2T>G
?b
i11
c.het. (10187_10190del)
1500_1501ins36 (+1293insG in Exon12 of CHRNE)
R500_V501ins12
1506_1507ins36
13
hom.
6169C>T
Q2057X
31
c.het. (12043dupG)
6955C>T
R2319X
31
c.het. (12043dupG)
10187_10190del
K3395GfsX11
10187delTGTC
32
c.het. (1122+2T>G)
12043dupG
E4015GfsX69
32
c.het.(Q2057X, R2319X)
LHMD2
1_9del1f
No translation of isoform 1fc
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