Supplementary Material
Supplementary Table S1: Germline and somatic mutations of the MEN1 gene
Predicted
b
Effect
Type
Intron 1
c.-34_-22del13
sp
G
c.-23_-22insT
sp
G
c.-22C>G
sp
G
codon 1 (ATG →GTG)
118del35insGGCCT
13insACGCTdelGCC
134del13
(GACGCTGTTCCCG)
G
[Agarwal et al., 1997]
P12L
S (GAS)
[Wang et al., 1998]
147del61
S (HPT)
[Carling et al., 1998]
44del16
G
[Chandrasekharappa et L22R
al., 1997]
G
[Agarwal et al., 1997]
L22R
G
[Verges et al., 2002]
177delT
G
[Wautot et al., 2002]
177delT
G
[Cardinal et al., 2005]
74del15
S (HPT)
[Heppner et al., 1997]
E26K
G
[Bartsch et al., 1998]
E26K
G
[Langer et al., 2001]
186G→A
G
[Langer et al., 2001]
186G→A
G
[Langer et al., 2002]
E26K
G
[Jager et al., 2006]
186G→T
G
[Ellard et al., 2005]
E26K (GAG→AAA)
G
[Ellard et al., 2005]
193delG
S (HPT)
[Miedlich et al., 2000]
193del36
G
[Matsubara et al., 1998] R29X
G
[Sato et al., 1998]
R29X
G
[Klein et al., 2005]
codon 29 (CGA→TGA)
G
[Klein et al., 2005]
codon 29 (CGA→TGA)
G
[Langer et al., 2002]
E30X
S (HPT)
[Cetani et al., 2000]
P32R
G
[Wautot et al., 2002]
211ins15
d
[Bassett et al., 1998]
codon 34-38
G
(insTGGTGCTCCTTTCCT)
S (VIP)
[Gortz et al., 1999a]
L37P
G
[Roijers et al., 2000]
226delT
S (HPT)
[Scarpellil et al., 2004]
222insT
S (HPT)
[Pannett et al., 2001]
codon 39 (del 1)
G
[Poncin et al., 1999]
226T→G
G
[Roijers et al., 2000]
226T→G
G
[Wautot et al., 2002]
L39W
G
[Verges et al., 2002]
L39W
S (NFpanc) [Toliat et al., 1997]
G2411A
S (HPT)
[Sato et al., 2000]
G42S
G
[Bassett et al., 1998]
G42D
Mutation
a
Codon
Exon 2
c.1A>G
c.8_42del35insGGCCT
c.13_15delGCCinsACGCT
c.24_36del13
1
3-14
5
8-12
ms, M1?
if
fs
fs
c.35C>T
c.38_98del61
c.44_59del16
c.65T>G
12
13-33
15-20
22
ms, P12L
fs
fs
ms, L22R
c.65T>G
c.69delT
c.69delT
c.74_88del15
c.76G>A
c.76G>A
c.76G>A
c.76G>A
c.76G>A
c.76G>T
c.76_78delGAGinsAAA
c.83delG
c.83_118del36
c.85C>T
c.85C>T
c.85C>T
c.85C>T
c.88G>T
c.95C>G
e
c.101_102ins15
c.108_122dup15
22
23
23
25-30
26
26
26
26
26
26
26
28
28-40
29
29
29
29
30
32
34
36-41
ms, L22R
fs
fs
if
ms, E26K
ms, E26K
ms, E26K
ms, E26K
ms, E26K
ms, E26X
ms, E26K
fs
if
ns, R29X
ns, R29X
ns, R29X
ns, R29X
ns, E30X
ms, P32R
if
if
c.110T>C
c.112delT
c.112_113insT
n/a
c.116T>G
c.116T>G
c.116T>G
c.116T>G
c.124G>A
c.124G>A
c.125G>A
37
38
38
39
39
39
39
39
42
42
42
ms, L37P
fs
fs
fs
ms, L39W
ms, L39W
ms, L39W
ms, L39W
ms, G42S
ms, G42S
ms, G42D
c
Reference
Original designation
[Jakobovitz-Picard et al., g2254-2266del13
2000]
[Jakobovitz-Picard et al., g2265insT
2000]
[Jager et al., 2006]
89c→g
G
S (HPT)
d
G
S (CAR)
1
[Klein et al., 2005]
[Uchino et al., 2000]
[Cardinal et al., 2005]
[Debelenko et al., 1997]
Mutation
a
Codon
Predicted
b
Effect
Type
c
Reference
Original designation
G42D
G42A
2416delCGT
E45K
E45K
E45K
E45Q
E45A
E45G
E45G
E45G
E45G
E45D
248-249delTT
c.125G>A
c.125G>C
c.129_131delCGT
c.133G>A
c.133G>A
c.133G>A
c.133G>C
c.134A>C
c.134A>G
c.134A>G
c.134A>G
c.134A>G
c.135G>T
c.140_141delTT
c.145_146delGCinsTT
n/a
c.146C>A
c.152delA
c.154delC
c.157G>A
c.162_163insG
c.163_173del11
c.165delTinsGG
c.165delTinsGG
c.177delC
c.178G>T
e
c.188_189ins5
c.188_189insCCAGC
c.188_189insCCAGC
e
c.189_190ins10
c.190C>T
c.191_200dup
AGCCCAGCCC
c.194_219del26
c.196_200dupAGCCC
c.196_200dupAGCCC
c.196_200dupAGCCC
c.196_201delAGCCCCinsT
c.197delGinsAA
c.200_201insG
e
c.200_201ins5
c.202_203insG
c.202_205delGCCC
c.202_206dupGCCCC
c.202_206dupGCCCC
c.202_206dupGCCCC
c.202_206dupGCCCC
c.202_206dupGCCCC
c.205_215del11
42
42
43-44
45
45
45
45
45
45
45
45
45
45
47
49
49
49
51
52
53
54
55-58
55
55
59
60
63
63
63
63
64
64-68
ms, G42D
ms, G42A
if
ms, E45K
ms, E45K
ms, E45K
ms, E45Q
ms, E45A
ms, E45G
ms, E45G
ms, E45G
ms, E45G
ms, E45D
fs
ms, A49F
ms, A49F
ms, A49D
fs
fs
ms, V53I
fs
fs
fs
fs
fs
ns, E60X
fs
fs
fs
fs
ns, Q64X
fs
G
G
G
G
G
G
G
G
G
G
G
G
S (HPT)
G
S (SST)
G
S (HPT)
S (HPT)
S (LIP)
S (CAR)
S (HPT)
S (HPT)
G
G
G
S (HPT)
G
G
G
G
G
G
[Wautot et al., 2002]
[Kytola et al., 2001]
[Cebrian et al., 1999]
[Morelli et al., 2000]
[Cebrian et al., 2003]
[Ellard et al., 2005]
[Ellard et al., 2005]
[Ellard et al., 2005]
[Miyauchi et al., 1998]
[Sato et al., 1998]
[Sato et al., 1998]
[Sato et al., 2000]
[Farnebo et al., 1998]
[Tso et al., 2003]
[Gortz et al., 1999a]
[Cebrian et al., 2003]
[Miedlich et al., 2000]
[Cetani et al., 2000]
[Pannett et al., 2001]
[Gortz et al., 1999a]
[Uchino et al., 2000]
[Uchino et al., 2000]
[Mayr et al., 1997]
[Bartsch et al., 1998]
[Verges et al., 2002]
[Cetani et al., 2000]
[Tanaka et al., 1998a]
[Hai et al., 1999]
[Turner et al., 2002]
[Wautot et al., 2002]
[Langer et al., 2002]
[Bassett et al., 1998]
65-73
66-67
66-67
66-67
66-67
66
67
67
68
68-69
68-69
68-69
68-69
68-69
68-69
69-72
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
S (HPT)
G
G
G
S (GAS)
G
G
G
G
S (HPT)
G
G
G
G
G
G
[Karges et al., 2000]
[Park et al., 2003]
[Klein et al., 2005]
[Ellard et al., 2005]
[Goebel et al., 2000]
[Bartsch et al., 1998]
[Wautot et al., 2002]
[Verges et al., 2002]
[Teh et al., 1998a]
[Uchino et al., 2000]
[Giraud et al., 1998]
[Morelli et al., 2000]
[Morelli et al., 2000]
[Verges et al., 2002]
[Wautot et al., 2002]
[Bassett et al., 1998]
c.206_216del11
c.207delC
c.207delC
c.207delC
69-72
69
69
69
fs
fs
fs
fs
G
G
G
G
[Wautot et al., 2002]
[Agarwal et al., 1997]
[Ellard et al., 2005]
[Ellard et al., 2005]
2
f
A50F (GCT→TTT)
A50F
A49D
261delA
codon 51 (delC)
V53I
272insG
273del11
275T→G + 276insG
55fs 64aaX CCT→CCGG
285delC
E60X
298ins5
298-299insCCAGC
2475insCCAGC
299ins10
Q64X
codon 63-66
(insCCAGCCCAGC)
194del26
200-201insAGCCC
codon 66-67 (dupAGCCC)
310-311insAGCCC
306 AGCCCC→T
66fs 50aaX AGC→AAAC
310insG
310ins5
311insG
309delCCCG
310dup5
311ins5 (GCCCC)
311ins5 (GCCCC)
310dup5
310dup5
codon 69-73 del11
(CCCGACCCGCC)
316del11
313delC
317delC
317delC
Codon
Predicted
b
Effect
Type
c.206_207ins5
e
c.206_207ins5
e
c.207_208ins5
c.207_208insGCCCC
c.208_209delGAinsT
e
c.208_209ins4
c.210_225del16
c.211_212delCC
c.211_212delCC
c.211_212delCC
e
c.211_212ins4
c.218_228del11insCCT
c.221delG
c.228delC
c.228delC
c.228delC
c.231C>A
c.231C>G
c.231_232insTA
c.237delC
c.237delC
c.237delC
c.243delC
c.243_244insC
c.248_272del25
c.248_272del25
c.249_250dupGT
c.249_250dupGT
c.249_250dupGT
c.249_252delGTCT
69
69
70
70
70
70
70-75
71
71
71
71
73-76
74
76
76
76
77
77
77
79
79
79
81
82
83-91
83-91
83-84
83-84
83-84
83-84
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
ns, Y77X
ns, Y77X
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
G
G
G
G
G
G
S (GAS)
G
G
G
G
S (GAS)
S (HPT)
G
G
G
G
G
G
G
G
G
S (HPT)
G
S (GAS)
S (GAS)
G
G
G
G
c.249_252delGTCT
c.249_252delGTCT
c.249_252delGTCT
c.249_252delGTCT
c.249_252delGTCT
c.249_252delGTCT
c.249_252delGTCT
c.249_252delGTCT
c.249_252delGTCT
c.249_252delGTCT
c.249_252delGTCT
c.249_252delGTCT
c.249_252delGTCT
c.249_252delGTCT
c.249_252delGTCT
c.249_252delGTCT
c.249_252delGTCT
c.249_252delGTCT
c.249_252delGTCT
c.249_252delGTCT
c.249_252delGTCT
c.249_252delGTCT
c.249_252delGTCT
83-84
83-84
83-84
83-84
83-84
83-84
83-84
83-84
83-84
83-84
83-84
83-84
83-84
83-84
83-84
83-84
83-84
83-84
83-84
83-84
83-84
83-84
83-84
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
G
G
G
S (GAS)
S (GAS)
S (LIP)
G
G
G
G
G
G
G
G
G
G
G
G
S (CAR)
G
G
G
G
Mutation
a
e
c
3
Reference
Original designation
[Clerici et al., 2001]
[Cebrian et al., 2003]
[Mayr et al., 1997]
[Ellard et al., 2005]
[Klein et al., 2005]
[Verges et al., 2002]
[Wang et al., 1998]
[Dackiw et al., 1999]
[Dackiw et al., 1999]
[Kouvaraki et al., 2002]
[Tanaka et al., 1998a]
[Wang et al., 1998]
[Tahara et al., 2000]
[Giraud et al., 1998]
[Verges et al., 2002]
[Ellard et al., 2005]
[Ellard et al., 2005]
[Klein et al., 2005]
[Hamaguchi et al., 1999]
[Tanaka et al., 1998a]
[Sakai et al., 2002]
[Cebrian et al., 2003]
[Dwight et al., 2000]
[Cebrian et al., 1999]
[Zhuang et al., 1997a]
[Goebel et al., 2000]
[Giraud et al., 1998]
[Nord et al., 2000]
[Wautot et al., 2002]
[Chandrasekharappa et
al., 1997]
[Lemmens et al., 1997]
[Agarwal et al., 1997]
[Agarwal et al., 1997]
[Zhuang et al., 1997a]
[Wang et al., 1998]
[Vortmeyer et al., 1998]
[Sakurai et al., 1998]
[Bassett et al., 1998]
[Bassett et al., 1998]
[Bassett et al., 1998]
[Giraud et al., 1998]
[Giraud et al., 1998]
[Giraud et al., 1998]
[Teh et al., 1998a]
[Teh et al., 1998a]
[Teh et al., 1998a]
[Teh et al., 1998a]
[Teh et al., 1998a]
[Fujii et al., 1999]
[Hai et al., 1999]
[Dackiw et al., 1999]
[Poncin et al., 1999]
[Poncin et al., 1999]
2493ins5
316ins5
317ins5
317-318insGCCCC
codon 70 (GAC→TC)
318ins4
320del16
320del2
320del2
210_211delCC
321ins4
328del4, 335del4
331delG
337delC
337delC
337delC
Y77X
codon 77 (TAC →TAG)
341insTA
345delC
237delC
345del1
352delC
2530insC
358del25
358del25
360dupGT
360dupGT
360dupGT
357del4
codon 83/84 delGTCT
357del4
357del4
358del4
358del4
exon 2 delTGTC
359del4
codon 83/84 delGTCT
codon 83/84 delGTCT
codon 83/84 delGTCT
359del4
359del4
359del4
359del4 (GTCT)
359del4 (GTCT)
359del4 (GTCT)
359del4 (GTCT)
359del4 (GTCT)
357del4
357del4
357del4
357del4
357del4
Mutation
a
Codon
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
c.249_252delGTCT
83-84
n/a
84
e
c.250_251ins2
84
c.252_255delTATC
84-85
c.254_255insT
85
c.255_256insCAGTGGCCGA 85
CCTGTCTAT
e
85
c.255_256ins19
c.256A>T
86
c.256A>T
86
c.258_261delCGCC
86-87
c.266T>G
89
c.266T>G
89
c.267delC
89
c.268delT
90
c.269_270delAT
90
c.269_270delAT
90
c.269_270delAT
90
c.269_270insA
90
c.274delC
92
c.274delC
92
Predicted
b
Effect
Type
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
G
G
G
G
S (GAS)
G
G
G
d
G
G
S (NFpanc)
G
G
G
G
G
G
G
G
G
G
G
S (VIP)
G
G
G
G
G
G
G
G
G
G
G
G
G
G
S (HPT)
d
G
fs
ms, I86F
ms, I86F
fs
ms, L89R
ms, L89R
fs
fs
fs
fs
fs
fs
fs
fs
G
S (GAS)
S (GAS)
S (HPT)
S (GLU)
S (HPT)
G
S (PRL)
G
G
G
G
G
G
c
d
4
Reference
Original designation
[Cebrian et al., 1999]
[Roijers et al., 2000]
[Roijers et al., 2000]
[Roijers et al., 2000]
[Goebel et al., 2000]
[Abe et al., 2000]
[Chico et al., 2000]
[Morelli et al., 2000]
[Karges et al., 2000]
[Bergman et al., 2000a]
[Moore et al., 2001]
[Kytola et al., 2001]
[Kouvaraki et al., 2002]
[Verges et al., 2002]
[Verges et al., 2002]
[Wautot et al., 2002]
[Wautot et al., 2002]
[Wautot et al., 2002]
[Wautot et al., 2002]
[Wautot et al., 2002]
[Wautot et al., 2002]
[Wautot et al., 2002]
[Asteria et al., 2002]
[Cebrian et al., 2003]
[Cebrian et al., 2003]
[Cardinal et al., 2005]
[Cardinal et al., 2005]
[Cardinal et al., 2005]
[Klein et al., 2005]
[Klein et al., 2005]
[Klein et al., 2005]
[Klein et al., 2005]
[Klein et al., 2005]
[Klein et al., 2005]
[Lemmens et al., 1997]
[Cebrian et al., 2003]
[Lemmens et al., 1997]
[Uchino et al., 2000]
[Warner et al., 2004]
2535delTGTC
357del4
357del4
357del4
357delCTGT
357del4
357del4
359del4 (GTCT)
249del4
2536del4
c.249-252del
359delGTCT
247_250delCTGT
359del4
359del4
359del4
359del4
359del4
359del4
359del4
359del4
359del4
359delGTCT
357del4
357del4
249-253delGTCT
249-253delGTCT
249-253delGTCT
codon 83-84 (delGTCT)
codon 83-84 (delGTCT)
codon 83-84 (delGTCT)
codon 83-84 (delGTCT)
codon 83-84 (delGTCT)
codon 83-84 (delGTCT)
codon 84 insGT
360ins2
codon 84/85 delTATC
363insT
255_256insCAGTGGCCGAC
CTGTCTAT
255ins19
I86F
I86F
258del4
L89R
L89R
377delC
[Cardinal et al., 2005]
[Zhuang et al., 1997a]
[Goebel et al., 2000]
[Carling et al., 1998]
[Hessman et al., 1998]
[Scarpellil et al., 2004]
[Wautot et al., 2002]
[Wenbin et al., 1999]
[Bassett et al., 1998]
[Cebrian et al., 1999]
[Cardinal et al., 2005]
[Langer et al., 2001]
[Verges et al., 2002]
[Wautot et al., 2002]
codon 90 (TAT→AT)
codon 90 (delAT)
2556delAT
269-270delAT
379-380insA
382delC
382delC
Codon
Predicted
b
Effect
Type
c.275_286del12
92-96
if
c.286C>T
c.286C>T
c.286C>T
c.286C>T
c.291_292delCC
c.292delC
c.292C>T
c.292C>T
c.292C>T
c.292C>T
c.292C>T
c.292C>T
c.292C>T
c.292C>T
c.292C>T
c.292C>T
c.292C>T
c.292C>T
c.292C>T
c.292C>T
c.292C>T
c.292C>T
c.292C>T
c.292C>T
c.292C>T
c.292C>T
c.292C>T
n/a
c.307delC
96
96
96
96
97
98
98
98
98
98
98
98
98
98
98
98
98
98
98
98
98
98
98
98
98
98
98
98
103
c.307delC
c.307delC
c.307delC
c.307delC
c.307delC
c.307delC
c.307delC
c.307delC
c.307delC
c.307delC
c.307delC
c.307delC
c.308_339del32
c.317_318delAT
c.320_321insC
c.322C>T
c.322C>T
c.322C>T
c.322C>T
c.322C>T
c.322C>T
Mutation
a
c
Reference
Original designation
G
[Kouvaraki et al., 2002]
ns, Q96X
ns, Q96X
ns, Q96X
ns, Q96X
fs
fs
ns, R98X
ns, R98X
ns, R98X
ns, R98X
ns, R98X
ns, R98X
ns, R98X
ns, R98X
ns, R98X
ns, R98X
ns, R98X
ns, R98X
ns, R98X
ns, R98X
ns, R98X
ns, R98X
ns, R98X
ns, R98X
ns, R98X
ns, R98X
ns, R98X
ms, R98L
fs
G
G
G
G
S (HPT)
S (HPT)
G
G
G
G
G
G
S (NFpanc)
S (HPT)
S (GAS)
S (HPT)
G
G
G
G
G
G
G
G
G
G
G
G
G
103
fs
G
103
103
103
103
103
103
103
103
103
103
103
103-113
106
107
108
108
108
108
108
108
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
ns, R108X
ns, R108X
ns, R108X
ns, R108X
ns, R108X
ns, R108X
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
S (HPT)
G
S (CAR)
G
G
[Giraud et al., 1998]
[Verges et al., 2002]
[Wautot et al., 2002]
[Crepin et al., 2003]
[Uchino et al., 2000]
[Miedlich et al., 2000]
[Lemmens et al., 1997]
[Mayr et al., 1997]
[Bassett et al., 1998]
[Giraud et al., 1998]
[Giraud et al., 1998]
[Teh et al., 1998a]
[Fujii et al., 1999]
[Uchino et al., 2000]
[Goebel et al., 2000]
[Cetani et al., 2000]
[Chico et al., 2000]
[Verges et al., 2002]
[Verges et al., 2002]
[Wautot et al., 2002]
[Wautot et al., 2002]
[Wautot et al., 2002]
[Wautot et al., 2002]
[Wautot et al., 2002]
[Cebrian et al., 2003]
[Crepin et al., 2003]
[Crepin et al., 2003]
[Wautot et al., 2002]
[Chandrasekharappa et
al., 1997]
[Chandrasekharappa et
al., 1997]
[Agarwal et al., 1997]
[Teh et al., 1998a]
[Mutch et al., 1999]
[Mutch et al., 1999]
[Mutch et al., 1999]
[Wautot et al., 2002]
[Lairmore et al., 2004]
[Lairmore et al., 2004]
[Benito et al., 2005]
[Klein et al., 2005]
[Klein et al., 2005]
[Mayr et al., 1997]
[Mutch et al., 1999]
[Klein et al., 2005]
[Lemmens et al., 1997]
[Heppner et al., 1997]
[Giraud et al., 1998]
[Baudin et al., 1999]
[Schuppe et al., 1999]
[Jakobovitz-Picard et al.,
2000]
275_286
delGCTTCACCGCCC
Q96X
Q96X
Q96X
f
395C>T
401delCC
402delC
R98X
5
402C→T
R98X
R98X
R98X
R98X
R98X
R98X
R98X
R98X
R98X
R98X
R98X
R98X
R98X
R98X
R98X
R98X
R98X
402C>T
402C>T
R98L
416delC
416delC
416delC
416delC
307delC
307delC
307delC
416delC
307delC
307delC
307delC
codon 103 (CTG→TG)
codon 103 (CTG→TG)
416del32
codon 106 (delAT)
codon 107 (CCT→CCCT)
R108X
R108X
R108X
R108X
R108X
g2608C→T
Codon
Predicted
b
Effect
Type
c.322C>T
c.322C>T
c.322C>T
c.322C>T
c.322C>T
c.322C>T
c.325G>T
c.329G>A
e
c.331_332ins2
e
c.331_332ins2
c.331_334delGGTG
c.332_333insGG
c.332_333insGG
c.340_341insA
c.341_376del36insTC
c.343delC
c.358A>T
c.358A>T
c.358_360delAAG
108
108
108
108
108
108
109
110
111
111
111-112
111
111
114
114-126
115
120
120
120
ns, R108X
ns, R108X
ns, R108X
ns, R108X
ns, R108X
ns, R108X
ns, E109X
ms, G110E
fs
fs
fs
fs
fs
fs
fs
fs
ns, K120X
ns, K120X
if
S (HPT)
G
G
G
G
G
S (ADR)
G
G
G
G
G
G
G
S (HPT)
S (HPT)
G
G
G
c.358_360delAAG
c.358_360delAAG
c.358_360delAAG
c.358_360delAAG
c.358_360delAAG
c.358_360delAAG
c.358_360delAAG
c.358_360delAAG
c.358_360delAAG
c.358_360delAAG
c.358_360delAAG
c.358_360delAAG
c.358_360delAAG
c.358_360delAAG
c.358_360delAAG
c.358_360delAAG
c.358_360delAAG
c.358_360delAAG
c.358_360delAAG
c.358_360delAAG
c.362T>A
c.372_393del22
c.375_376delAT
c.375_376delAT
c.375_376delAT
c.375_376delAT
c.375_376delAT
c.375_376delAT
c.376T>G
c.376T>G
c.377G>A
c.378G>A
c.378G>A
c.378G>A
120
120
120
120
120
120
120
120
120
120
120
120
120
120
120
120
120
120
120
120
121
124-131
125-126
125-126
125-126
125-126
125-126
125-126
126
126
126
126
126
126
Mutation
a
c
Reference
[Uchino et al., 2000]
[Clerici et al., 2001]
[Verges et al., 2002]
[Wautot et al., 2002]
[Cebrian et al., 2003]
[Cardinal et al., 2005]
[Gortz et al., 1999b]
[Jap et al., 2005]
[Verges et al., 2002]
[Wautot et al., 2002]
[Klein et al., 2005]
[Giraud et al., 1998]
[Wautot et al., 2002]
[Klein et al., 2005]
[Sato et al., 2001]
[Dwight et al., 2000]
[Langer et al., 2001]
[Agarwal et al., 1997]
[Chandrasekharappa et
al., 1997]
if
G
[Agarwal et al., 1997]
if
G
[Agarwal et al., 1997]
if
G
[Shimizu et al., 1997]
if
S (NFpanc) [Toliat et al., 1997]
if
G
[Bassett et al., 1998]
if
G
[Sakurai et al., 1998]
if
G
[Mayr et al., 1998]
if
S (HPT)
[Farnebo et al., 1998]
if
G
[Dackiw et al., 1999]
if
G
[Roijers et al., 2000]
if
G
[Turner et al., 2002]
if
G
[Kouvaraki et al., 2002]
if
G
[Tanaka et al., 2002]
if
G
[Wautot et al., 2002]
if
G
[Verges et al., 2002]
if
G
[Cebrian et al., 2003]
if
G
[Tso et al., 2003]
if
G
[Ellard et al., 2005]
if
G
[Klein et al., 2005]
if
G
[Klein et al., 2005]
ms, V121D S (HPT)
[Pannett et al., 2001]
fs
S (HPT)
[Miedlich et al., 2000]
fs
G
[Shimizu et al., 1997]
fs
S (GAS)
[Zhuang et al., 1997a]
fs
G
[Aoki et al., 1997]
fs
G
[Tanaka et al., 1998a]
fs
S (GAS)
[Goebel et al., 2000]
fs
G
[Wautot et al., 2002]
ms, W126G S (GAS)
[Zhuang et al., 1997a]
ms, W126G S (GAS)
[Goebel et al., 2000]
ns, W126X G
[Bassett et al., 1998]
ns, W126X S (ADR)
[Schulte et al., 2000]
ns, W126X G
[Crepin et al., 2003]
ns, W126X G
[Klein et al., 2005]
6
Original designation
R108X
R108X
R108X
R108X
R108X
322C→T
E109X
G110E (GGG→GAG)
441ins2
441ins2
codon 111-112 (delGGTG)
437insGG
437insGG
codon 114 (AGC→AAGC)
450del36insTC
452delC
468A→T
K120X
K119del
K119del
K119del
K119del
2641del3
codon 118/119 (delGAA)
K119del
465del3
K119del
K119del
465del3
2651delGAA
354_356delGAA
464delGAA
467delGAA
467delGAA
464del3
K119del
468-470delAAG
codon 120 (delAAG)
codon 120 (delAAG)
V121D
482del22
483del2
483delAT
483delAT
483delAT
483delAT
485delAT
W126G
W126G
W126X (TGG→TAG)
codon 126 (TGG→TGA)
488G>A
codon 126 (TGG→TGA)
Codon
Predicted
b
Effect
Type
n/a
n/a
n/a
n/a
c.392_407del16
126
126
126
126
131-136
ns, W126X
ns, W126X
ns, W126X
ns, W126X
fs
S (HPT)
G
G
G
G
[Miedlich et al., 2000]
[Wautot et al., 2002]
[Verges et al., 2002]
[Ellard et al., 2005]
[Klein et al., 2005]
n/a
n/a
n/a
c.398_430del33
c.400T>C
c.402delC
131
133
133
133-144
134
134
fs
ns, Y133X
ns, Y133X
if
ms, F134L
fs
c.402delC
134
fs
c.402delC
c.402delC
c.402delC
c.402delC
c.402delC
c.403A>T
c.404delA
c.406delG
c.412delG
c.415delC
c.415C>G
c.415C>G
c.415C>G
c.415C>G
c.415C>T
c.416A>C
c.416A>G
134
134
134
134
134
135
135
136
138
139
139
139
139
139
139
139
139
fs
fs
fs
fs
fs
ns, K135X
fs
fs
fs
fs
ms, H139D
ms, H139D
ms, H139D
ms, H139D
ms, H139Y
ms, H139P
ms, H139R
c.417delC
c.419delT
c.422A>G
c.430T>G
c.430T>G
c.430T>G
c.431T>G
c.431_432delTCinsAA
c.435C>G
c.437delT
c.437_438insT
c.440_442delATC
c.442delA
139
140
141
144
144
144
144
144
145
146
146
147
148
fs
fs
ms, Q141R
ms, F144V
ms, F144V
ms, F144V
ms, F144C
ns, F144X
ms, S145R
fs
fs
if
fs
W126X
f
R126X
R126X
R126X
codon 131
(delGCTCCTACTTCAAGGA)
G
[Bassett et al., 1998]
codon 131 (delC)
G
[Giraud et al., 1998]
Y133X
G
[Wautot et al., 2002]
Y133X
S (HPT)
[Uchino et al., 2000]
508del33
S (PRL)
[Wrocklage et al., 2002] F134L
G
[Chandrasekharappa et 512delC
al., 1997]
G
[Chandrasekharappa et 512delC
al., 1997]
G
[Agarwal et al., 1997]
512delC
G
[Bassett et al., 1998]
codon 134 (delC)
S (GAS)
[Goebel et al., 2000]
512delC
G
[Turner et al., 2002]
2689delC
G
[Klein et al., 2005]
codon 134 (TTC→TT)
S (ANG)
[Boni et al., 1998]
codon 135 (AAG→TAG)
G
[Cardinal et al., 2005]
404-405delA
S (HPT)
[Carling et al., 1998]
405del1
S (VIP)
[Wang et al., 1998]
522delG
G
[Wautot et al., 2002]
525delC
G
[Agarwal et al., 1997]
H139D
G
[Zhuang et al., 1997b]
H139D
S (HPT)
[Carling et al., 1998]
H139D
G
[Stratakis et al., 2000]
H139D
G
[Agarwal et al., 1997]
H139Y
G
[Cebrian et al., 2003]
H139P
G
[Martin-Campos et al.,
H139R
1999]
G
[Klein et al., 2005]
codon 139 (CAC→CA)
S (GAS)
[Goebel et al., 2000]
529delT
S (GAS)
[Wang et al., 1998]
Q141R (A→G)
G
[Agarwal et al., 1997]
F144V
G
[Clerici et al., 2001]
F144V
G
[Klein et al., 2005]
codon 144 (TTC→GTC)
G
[Verges et al., 2002]
F144C
G
[Ellard et al., 2005]
F144X (TTC→TAA)
S (NFpanc) [Wang et al., 1998]
S145R (C→G)
S (HPT)
[Miedlich et al., 2000]
547delT
S (INS)
[Zhuang et al., 1997a]
545insT
S (GAS)
[Wang et al., 1998]
550del3
G
[Klein et al., 2005]
codon 148 (ACA→CA)
sp
sp
sp
sp
sp
sp
G
G
S (HPT)
G
G
G
[Mutch et al., 1999]
[Tso et al., 2003]
[Uchino et al., 2000]
[Teh et al., 1998b]
[Burgess et al., 2000]
[Cardinal et al., 2005]
Mutation
a
Intron 2
c.445_445+1delGGinsC
c.445+2G>T
c.445+2_445+5delTTGG
c.446-3C>G
c.446-3C>G
c.446-3C>G
c
Reference
7
Original designation
454 AGgt→Act
IVS2 +2G→T
555+2del ttgg
IVS2 -3c→g
IVS2 -3c→g
IVS2 -3C→G
Codon
Predicted
b
Effect
Type
Exon 3
c.453_454insA
c.453_454dupAT
c.455T>G
c.458A>T
c.458A>T
c.459delC
c.459delC
c.461G>T
c.461G>T
c.464C>T
c.464C>T
c.467G>A
c.467G>A
c.467G>A
c.467G>A
c.468_469insT
c.469delG
c.476T>G
c.476T>G
c.478G>C
c.478G>C
c.478G>C
c.478G>A
c.478G>A
c.483_484delGGinsTT
c.484_485delGTinsTG
c.484G>T
c.484G>T
c.485_489dupTTGGG
c.490delG
c.491C>A
c.491C>A
c.493T>C
c.493T>C
c.493T>C
c.493T>C
c.494G>C
c.495_504del10
151
151-152
152
153
153
153
153
154
154
155
155
156
156
156
156
156
157
159
159
160
160
160
160
160
161-162
162
162
162
162-163
164
164
164
165
165
165
165
165
165-168
fs
fs
ms, L152W
ms, D153V
ms, D153V
fs
fs
ms, S154I
ms, S154I
ms, S155F
ms, S155F
ms, G156D
ms, G156D
ms, G156D
ms, G156D
fs
fs
ms, F159C
ms, F159C
ms, A160P
ms, A160P
ms, A160P
ms, A160T
ms, A160T
ms, F162V
ms, V162C
ms, V162F
ms, V162F
fs
fs
ms, A164D
ms, A164D
ms, C165R
ms, C165R
ms, C165R
ms, C165R
ms, C165Y
fs
c.496C>T
c.496C>T
c.503T>C
c.503T>C
c.503T>C
c.503T>C
c.503T>C
c.511C>T
c.512_520delGGGATGTCC
c.512_520delGGGATGTCC
c.514G>T
c.514G>T
c.514G>T
c.514G>T
166
166
168
168
168
168
168
171
171-174
171-174
172
172
172
172
ns, Q166X
ns, Q166X
ms, L168P
ms, L168P
ms, L168P
ms, L168P
ms, L168P
ms, R171W
if
if
ms, D172Y
ms, D172Y
ms, D172Y
ms, D172Y
Mutation
a
c
Reference
Original designation
G
G
S (HPT)
d
G
G
G
G
G
G
G
G
G
S (HPT)
S (HPT)
G
S (HPT)
G
S (GAS)
S (GAS)
G
G
G
G
G
S (HPT)
S (GAS)
G
G
G
G
G
G
G
G
G
G
G
G
[Teh et al., 1998a]
[Verges et al., 2002]
[Carling et al., 1998]
[Pannett et al., 2003]
[Ellard et al., 2005]
[Sato et al., 1998]
[Namihira et al., 2000]
[Turner et al., 2002]
[Ellard et al., 2005]
[Engelbach et al., 1999]
[Langer et al., 2003]
[Mutch et al., 1999]
[Uchino et al., 2000]
[Verges et al., 2002]
[Klein et al., 2005]
[Karges et al., 2000]
[Nuzzo et al., 2006]
[Zhuang et al., 1997a]
[Goebel et al., 2000]
[Agarwal et al., 1997]
[Bassett et al., 1998]
[Wautot et al., 2002]
[Teh et al., 1998a]
[Wautot et al., 2002]
[Dwight et al., 2000]
[Wang et al., 1998]
[Wautot et al., 2002]
[Verges et al., 2002]
[Bassett et al., 1998]
[Teh et al., 1998a]
[Bassett et al., 1998]
[Wautot et al., 2002]
[Wautot et al., 2002]
[Verges et al., 2002]
[Crepin et al., 2003]
[Crepin et al., 2003]
[Ellard et al., 2005]
[Klein et al., 2005]
560insA
562insAT
L152W
D153V
D153V
569delC
569delC
G
S (GAS)
G
G
G
G
G
G
G
G
G
G
G
G
[Tanaka et al., 1998a]
[Goebel et al., 2000]
[Bartsch et al., 1998]
[Langer et al., 2001]
[Langer et al., 2001]
[Langer et al., 2001]
[Langer et al., 2002]
[Jager et al., 2006]
[Sakurai et al., 1998]
[Sakurai et al., 1998]
[Giraud et al., 1998]
[Poncin et al., 1999]
[Poncin et al., 1999]
[Poncin et al., 1999]
8
4312G→T
S154I
574C>T (S155F)
c.574C>T
467G→A
G156D
G156D
codon 156 (GGT→CAT)
468insT
579delG
F159C
F159C
A160P
A160P
A160P
A160T
A160T
593GG→TT
V162C (GTT→TGT)
V162F
V162F
codon 162/163 (insGTTGG)
597delG
A164D
A164D
C165R
C165R
503T>C
503T>C
C165Y
codon 165
(delCCAGGCCCTG)
606C→T
Q166X
L168P
L168P
L168P
L168P
L168P
621C→T
621del9
621del9
D172Y
624G→T
624G→T
624G→T
Codon
Predicted
b
Effect
Type
c.514G>T
c.514G>T
c.514G>T
c.515A>T
n/a
c.524T>G
c.526delG
c.526G>C
c.532_535delTCTG
c.533C>A
c.533_534insC
c.535G>A
172
172
172
172
174
175
176
176
178-179
178
178
179
ms, D172Y
ms, D172Y
ms, D172Y
ms, D172V
fs
ms, L175R
fs
ms, A176P
fs
ms, S178Y
fs
ms, E179K
G
G
G
S (CAR)
G
S (HPT)
G
G
d
G
S (NFpanc)
S (GAS)
G
c.535G>A
c.535G>C
c.536A>T
c.536A>T
c.537G>T
c.537G>T
c.545A>G
c.545_546ins
AAACACTACTA
c.548G>C
c.548G>C
c.548G>C
c.548G>C
c.549G>A
c.549G>A
c.549G>A
n/a
n/a
c.547T>C
c.547T>C
c.547T>G
c.549G>T
c.551T>A
c.558delT
c.563_564delCC
c.571delG
c.571G>T
c.571G>T
c.571G>T
c.571G>T
c.571G>T
c.571G>T
c.571_572insGG
c.574C>T
c.586G>T
c.589_590insA
c.589_591delACC
c.589_591delACC
c.590C>T
c.590C>T
c.594G>A
179
179
179
179
179
179
182
182
183
183
183
183
183
183
183
183
183
183
183
183
183
184
186
188
191
191
191
191
191
191
191
191
192
196
197
197
197
197
197
198
Mutation
a
c
Reference
Original designation
D172Y
D172Y
D172Y
D172V
codon 174 (delC)
L175R
ms, E179K
ms, E179Q
ms, E179V
ms, E179V
ms, E179D
ms, E179D
ms, H182R
fs
[Fujii et al., 1999]
[Verges et al., 2002]
[Wautot et al., 2002]
[Gortz et al., 1999a]
[Bassett et al., 1998]
[Farnebo et al., 1998]
[Klein et al., 2005]
[Agarwal et al., 1997]
[Pannett et al., 2003]
[Fujii et al., 1999]
[Mailman et al., 1999]
[Weinhaeusel et al.,
2000]
G
[Klein et al., 2005]
G
[Roijers et al., 2000]
S (GLU)
[Bergman et al., 2000b]
S (NFpanc) [Moore et al., 2001]
G
[Poncin et al., 1999]
G
[Klein et al., 2005]
G
[Klein et al., 2005]
G
[Cavaco et al., 2002]
ms, W183S
ms, W183S
ms, W183S
ms, W183S
ns, W183X
ns, W183X
ns, W183X
ns, W183X
ns, W183X
ms, W183R
ms, W183R
ms, W183G
ms, W183C
ms, V184E
fs
fs
fs
ns, E191X
ns, E191X
ns, E191X
ns, E191X
ns, E191X
ns, E191X
fs
ns, Q192X
ms, V196F
fs
if
if
ms, T197I
ms, T197I
ns, W198X
G
G
G
G
G
G
S (NFpanc)
G
G
G
S (HPT)
S (INS)
G
d
G
G
G
G
G
G
G
G
G
G
G
G
S (NFpanc)
S (HPT)
G
G
d
G
d
G
G
W183S
W183S
W183S
W183S
9
[Lemmens et al., 1997]
[Bassett et al., 1998]
[Ellard et al., 2005]
[Ellard et al., 2005]
[Lemmens et al., 1997]
[Bassett et al., 1998]
[Moore et al., 2001]
[Agarwal et al., 1997]
[Wautot et al., 2002]
[Hai et al., 1999]
[Uchino et al., 2000]
[Pannett et al., 2001]
[Clerici et al., 2001]
[Fujimori et al., 1998]
[Cebrian et al., 2003]
[Klein et al., 2005]
[Ellard et al., 2005]
[Bassett et al., 1998]
[Teh et al., 1998a]
[Turner et al., 2002]
[Wautot et al., 2002]
[Cardinal et al., 2005]
[Ellard et al., 2005]
[Ellard et al., 2005]
[Jager et al., 2006]
[Moore et al., 2001]
[Farnebo et al., 1998]
[Giraud et al., 1998]
[Wautot et al., 2002]
[Warner et al., 2004]
[Cardinal et al., 2005]
[Chandrasekharappa et
codon 176 (GCC→CC)
A176P
codon 177-178 (delGTCT)
S178Y
643insC
c.535G>A
codon 179 (GAG→AAG)
645G→C
4387A→T
codon 179 (GAG→GTG)
647G→T
codon 179 (GAG→GAT)
codon 182 (CAT→CGT)
655ins11 (AAACACTACTA)
W183X (TGG→TGA)
W183X (TGG→TGA)
codon 183 (TGG→TGA)
W183X
f
R183X
W183R
W183R
W183G
W183C
V184E
666del1
codon 188 (CCC→C)
681delG
E191X
E191X
4422G→T
E191X
571G→T
E191X
681-682insGG
684C→T
codon 196 (GTC→TTC)
699insA
699delACC
699delACC
590C>T
590C→T
W198X
Codon
Predicted
b
Effect
Type
c.594G>A
c.594G>A
c.594G>A
n/a
n/a
c.597delCinsGG
c.600_601dupCA
c.602delA
c.602delA
c.605delG
c.609delC
c.623delG
c.625delC
c.625C>T
c.625C>T
c.625C>T
c.628_631delACAG
198
198
198
198
198
199
200-201
201
201
202
203
208
209
209
209
209
210-211
ns, W198X
ns, W198X
ns, W198X
ns, W198X
ns, W198X
fs
fs
fs
fs
fs
fs
fs
fs
ns, Q209X
ns, Q209X
ns, Q209X
fs
G
S (VIP)
G
G
G
S (HPT)
G
G
G
G
G
S (GAS)
G
S (CAR)
G
S (HPT)
G
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.628_631delACAG
c.631_634delGTCA
c.631_634delGTCA
c.631_634delGTCA
c.631_634delGTCA
c.631_634delGTCA
c.631_634delGTCA
c.631_634delGTCA
c.631_634delGTCA
210-211
210-211
210-211
210-211
210-211
210-211
210-211
210-211
210-211
210-211
210-211
210-211
210-211
210-211
210-211
210-211
210-211
210-211
210-211
210-211
210-211
210-211
210-211
210-211
210-211
210-211
210-211
211-212
211-212
211-212
211-212
211-212
211-212
211-212
211-212
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
Mutation
a
c
Reference
10
al., 1997]
[Shan et al., 1998]
[Shan et al., 1998]
[Klein et al., 2005]
[Agarwal et al., 1997]
[Hamaguchi et al., 1999]
[Dwight et al., 2000]
[Wautot et al., 2002]
[Sato et al., 1998]
[Ohye et al., 1999]
[Agarwal et al., 1997]
[Jager et al., 2006]
[Goebel et al., 2000]
[Teh et al., 1998a]
[Gortz et al., 1999a]
[Cebrian et al., 1999]
[Uchino et al., 2000]
[Chandrasekharappa et
al., 1997]
[Agarwal et al., 1997]
[Agarwal et al., 1997]
[Teh et al., 1998a]
[Teh et al., 1998a]
[Sakurai et al., 1998]
[Giraud et al., 1998]
[Engelbach et al., 1999]
[Mutch et al., 1999]
[Mutch et al., 1999]
[Morelli et al., 2000]
[Kouvaraki et al., 2002]
[Cavaco et al., 2002]
[Wautot et al., 2002]
[Verges et al., 2002]
[Cebrian et al., 2003]
[Cebrian et al., 2003]
[Lairmore et al., 2004]
[Lairmore et al., 2004]
[Cardinal et al., 2005]
[Ellard et al., 2005]
[Ellard et al., 2005]
[Ellard et al., 2005]
[Ellard et al., 2005]
[Ellard et al., 2005]
[Ellard et al., 2005]
[Klein et al., 2005]
[Jager et al., 2006]
[Lemmens et al., 1997]
[Bassett et al., 1998]
[Bassett et al., 1998]
[Bassett et al., 1998]
[Bassett et al., 1998]
[Bassett et al., 1998]
[Bergman et al., 2000a]
[Pannett et al., 2001]
Original designation
W198X (TGG→TGA)
W198X (TGG→TGA)
codon 198 (TGG→TGA)
W198X
W198X
707delCinsGG
711dupCA
711delA
712delA
713delG
719delC
730delG
734delC
Q209X
Q209X
Q209X
735del4
735del4
735del4
738del4 (ACAG)
738del4 (ACAG)
738del4
738del4
735-738delCAGA
626delACAG
626delACAG
738del4 (ACAG)
625_628delCAGA
735del4
738del4
738del4
738del4
738del4
f
626delACAG
f
626delACAG
625-629delCAGA
738-741delACAG
738-741delACAG
738-741delACAG
738-741delACAG
738-741delACAG
738-741delACAG
codon 210 (delACAG)
735delCAGA
codon 210/211 (delCAGT)
codon 210/211 (delCAGT)
codon 210/211 (delCAGT)
codon 210/211 (delCAGT)
codon 210/211 (delCAGT)
codon 210/211 (delCAGT)
4482del4
codon 210-211 (delCAGT)
Codon
Predicted
b
Effect
Type
c.631_634delGTCA
c.631_634delGTCA
c.631_634delGTCA
c.631_634delGTCA
c.641delG
c.641delG
c.643G>A
c.643G>A
c.647_654+18del26
c.654G>T
c.654G>T
c.654G>T
211-212
211-212
211-212
211-212
214
214
215
215
216-218
218
218
218
fs
fs
fs
fs
fs
fs
ms, V215M
ms, V215M
sp
sp
sp
sp
G
S (Epend)
G
G
G
G
G
G
G
G
G
d
G
c.654G>T
218
sp (RT)
G
sp
sp
sp
sp
sp
sp
sp (RT)
sp (RT)
sp (RT)
sp
sp
sp (RT)
sp
sp
sp
sp
sp
sp
sp
ns, W220X
ns, W220X
ns, W220X
ms, W220S
fs
fs
ns, W220X
if
fs
fs
fs
fs
fs
fs
fs
ms, L223P
Mutation
a
Intron 3
c.654+1G>C
c.654+1G>T
c.654+1G>T
c.654+1G>T
c.654+2T>A
c.654+3A>G
c.654+3A>G
c.654+3A>G
c.654+3A>G
c.655-6C>A
c.655-6C>G
c.655-6C>T
c.655-6C>T
c.655-4delT
c.655-3A>G
c.655-1G>C
c.655-1G>C
c.655-1G>T
c.655-1_655insGT
Exon 4
c.659G>A
n/a
n/a
c.659G>C
c.659_660insA
c.659_660insA
c.660G>A
c.661_669delCTGTACCTG
c.667delC
c.667delC
c.667delC
c.667delC
c.668delT
c.668delT
c.668delT
c.668T>C
220
220
220
220
220
220
220
221-223
223
223
223
223
223
223
223
223
c
Reference
Original designation
[Asteria et al., 2001]
[Urioste et al., 2002]
[Turner et al., 2002]
[Cardinal et al., 2005]
[Bassett et al., 1998]
[Wautot et al., 2002]
[Morelli et al., 2000]
[Klein et al., 2005]
[Wautot et al., 2002]
[Giraud et al., 1998]
[Verges et al., 2002]
[Dwarakanathan et al.,
2000]
[Klein et al., 2005]
c.741_744delGTCA
4482delCAGT
codon 209-211 (delCAGT)
631-635delGTCA
codon 214 (delG)
750delG
V215M
G
G
G
G
S (GAS)
S (CAR)
S (HPT)
S (HPT)
G
G
G
G
G
G
G
G
G
G
G
[Klein et al., 2005]
[Teh et al., 1998a]
[Teh et al., 1998b]
[Cardinal et al., 2005]
[Kawamura et al., 2005]
[Debelenko et al., 1997]
[Karges et al., 2000]
[Karges et al., 2000]
[Hai et al., 2000]
[Jager et al., 2006]
[Dreijerink et al., 2005]
[Roijers et al., 2000]
[Verges et al., 2002]
[Morelli et al., 2000]
[Verges et al., 2002]
[Morelli et al., 2000]
[Klein et al., 2005]
[Mayr et al., 1998]
[Jakobovitz-Picard et al.,
2000]
IVS3+1(GT→CT)
IVS3+1g→t
IVS3+1g→t
IVS3+1G→T
764+2T→A
764+3A→G
654+3A→G
654+3A→G
764+3A→G
IVS3-6c→a
IVS3-6C>G
G
G
G
G
G
G
G
S (GAS)
G
G
G
G
G
G
G
G
[Teh et al., 1998a]
[Nord et al., 2000]
[Wautot et al., 2002]
[Ellard et al., 2005]
[Mutch et al., 1999]
[Lairmore et al., 2004]
[Cardinal et al., 2005]
[Wang et al., 1998]
[Giraud et al., 1998]
[Nord et al., 2000]
[Verges et al., 2002]
[Wautot et al., 2002]
[Giraud et al., 1998]
[Wautot et al., 2002]
[Wautot et al., 2002]
[Giraud et al., 1998]
W220X (TGG→TAG)
W220X
W220X
W220S
659insA
659insA
11
codon 215 (GTG→ATG)
757del26
764G→T
764G→T
f
codon 219 (CGG→CGT)
codon 218 (CGG→CGT)
intron 3 (-6c→t)
765-6c→t
765-4delT
765-3a>g
765-1g→c
IVS3-1(AG→AC)
765-1G→T
g4715-4716insGT
660G→A
770del9
776delC
776delC
776delC
776delC
778delT
778delT
778delT
L223P
Codon
Predicted
b
Effect
Type
c.668T>C
c.668T>C
c.668T>C
c.668T>C
c.671_675delAAGGA
c.673G>A
c.673G>A
c.673G>A
c.674delG
c.677C>G
c.678_683delATACAT
c.678_683delATACAT
c.681C>G
n/a
n/a
n/a
n/a
c.686G>A
c.686G>T
c.686G>T
c.696_699delCAAG
c.707_708insT
c.710_718delCGTTCATGG
223
223
223
223
224-225
225
225
225
225
226
226-228
226-228
227
227
227
227
227
229
229
229
232-233
236
237-240
ms, L223P
ms, L223P
ms, L223P
ms, L223P
fs
ms, G225R
ms, G225R
ms, G225R
fs
ns, S226X
if
if
ns, Y227X
ns, Y227X
ns, Y227X
ns, Y227X
ns, Y227X
ms, R229H
ms, R229L
ms, R229L
fs
fs
if
c.710_718delCGTTCATGG
c.721T>C
c.721T>C
c.722G>A
c.722G>T
c.722G>T
c.722G>T
c.723_724delTG
c.723_724delTG
c.725C>T
c.725_742del18
c.732delC
c.738delC
c.738_741delCATTinsAGCG
AGTCG
c.755_762delACTCGCTG
c.757T>C
c.758C>A
c.758C>A
c.758C>A
c.758C>A
c.758C>G
c.758C>T
c.763G>A
c.763G>A
c.765_766insA
c.769_770insGGAGCTT
c.772C>T
c.772C>T
c.772C>T
237-240
241
241
241
241
241
241
241-242
241-242
242
242-248
245
246
246-247
252-254
253
253
253
253
253
253
253
255
255
256
257
258
258
258
Mutation
a
c
Reference
Original designation
G
G
G
G
S (HPT)
G
G
d
G
S (GAS)
G
G
G
G
G
G
G
G
G
G
G
G
G
G
[Roijers et al., 2000]
[Verges et al., 2002]
[Wautot et al., 2002]
[Crepin et al., 2003]
[Farnebo et al., 1998]
[Hai et al., 1999]
[Jager et al., 2006]
[Mizusawa et al., 2006]
[Goebel et al., 2000]
[Crepin et al., 2003]
[Karges et al., 1998]
[Ludwig et al., 1999]
[Turner et al., 2002]
[Teh et al., 1998a]
[Dackiw et al., 1999]
[Kouvaraki et al., 2002]
[Wautot et al., 2002]
[Pinna et al., 2004]
[Bergman et al., 2000a]
[Cardinal et al., 2005]
[Cebrian et al., 2003]
[Bartsch et al., 1998]
[Bassett et al., 1998]
778T→C
L223P
L223P
778T>C
781del5 (AAGGA)
if
ms, C241R
ms, C241R
ms, C241Y
ms, C241F
ms, C241F
ms, C241F
fs
fs
ms, A242V
if
fs
fs
fs
G
G
G
G
G
G
G
S (NFpanc)
G
G
S (HPT)
G
G
G
[Wautot et al., 2002]
[Mutch et al., 1999]
[Ellard et al., 2005]
[Hai et al., 1999]
[Wautot et al., 2002]
[Crepin et al., 2003]
[Ellard et al., 2005]
[Moore et al., 2001]
[Klein et al., 2005]
[Agarwal et al., 1997]
[Scarpellil et al., 2004]
[Sato et al., 2000]
[Jager et al., 2006]
[Cebrian et al., 1999]
fs
ms, S253P
ns, S253X
ns, S253X
ns, S253X
ns, S253X
ms, S253W
ms, S253L
ms, E255K
ms, E255K
fs
fs
ns, Q258X
ns, Q258X
ns, Q258X
S (HPT)
G
G
G
G
G
G
S (HPT)
d
G
G
S (GAS)
G
G
G
G
[Tanaka et al., 2002]
[Hai et al., 1999]
[Wautot et al., 2002]
[Verges et al., 2002]
[Crepin et al., 2003]
[Crepin et al., 2003]
[Uchino et al., 2000]
[Dwight et al., 2000]
[Teh et al., 1998c]
[Ellard et al., 2005]
[Zhuang et al., 1997a]
[Poncin et al., 1999]
[Poncin et al., 1999]
[Cardinal et al., 2005]
[Klein et al., 2005]
12
G225R (GGA→AGA)
783G→A
G225R (GGA→AGA)
783delG
787C>G
788-793delATACAT
678del6
4742C→G
Y227X
Y227X
Y227X
Y227X
codon 229 (CGC→CAC)
4747G→T
686G→T
806del4
236fs 12aaX GTG→GTTG
codon 236-239
(delTGGCGTTCA)
817del9
721T→C
C241R
C241Y
f
C240F
832G>T
C241F
c.723_724del
codon 241 (TGT→T)
A242V
835del18
842delC
847delC
4799delCATTinsAGCGAGTC
G
864del8
S253P
S253X
S253X
868C>A
868C>A
S253W
868C→T
E255K
E255K
875insA
879insGGAGCTT
882C→T
772C→T
codon 258 (CAG→TAG)
Mutation
a
c.775_777delCTG
c.776T>G
c.776_781dupTGCAGC
c.778C>T
c.778C>T
c.779A>C
c.779A>C
c.781C>T
c.781C>T
c.781C>T
Codon
Predicted
b
Effect
Type
259
259
259-261
260
260
260
260
261
261
261
if
ms, L259R
if
ns, Q260X
ns, Q260X
ms, Q260P
ms, Q260P
ns, Q261X
ns, Q261X
ns, Q261X
Intron 4
c.783+1G>A
c.783+1G>A
c.783+1G>C
c.783+1G>C
c.783+1G>T
c.783+1G>T
c.783+1G>T
c.783+1G>T
c.784-15_784-14delTC
c.784-15_784-14delTC
c.784-9G>A
c.784-9G>A
c.784-9G>A
c.784-9G>A
c.784-9G>A
c.784-9G>A
c.784-9G>A
c.784-9G>A
c.784-9G>A
c.784-9G>A
c.784-9G>A
c.784-9G>A
c.784-9G>A
c.784-9G>A
c.784-9G>A
c.784-9G>A
c.784-9G>A
c.784-9G>A
c.784-9G>A
c.784-9G>A
c.784-9G>A
c.784-4_784delCTAGA
insTCAGCC
c.784-4_786delCTAGAAG
insTCAGCCAC
c.784-1G>A
c.784-1G>A
c.784-1G>A
c.784-1G>C
Exon 5
c.784A>T
262
c
Reference
Original designation
G
G
G
G
G
d
G
G
G
G
G
[Hai et al., 2001]
[Klein et al., 2005]
[Okamoto et al., 2002]
[Shimizu et al., 1997]
[Agarwal et al., 1997]
[Kassem et al., 2000]
[Jager et al., 2006]
[Giraud et al., 1998]
[Wautot et al., 2002]
[Cebrian et al., 2003]
L259del
sp (RT)
sp
sp
sp
sp (RT)
sp
sp
sp
sp
sp
sp (RT)
sp
sp
sp
sp (RT)
sp (RT)
sp (RT)
sp
sp
sp (RT)
sp (RT)
sp (RT)
sp (RT)
sp (RT)
sp (RT)
sp (RT)
sp
sp
sp
sp
sp
sp
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
d
G
G
G
[Hai et al., 2000]
[Morelli et al., 2000]
[Poncin et al., 1999]
[Klein et al., 2005]
[Giraud et al., 1998]
[Teh et al., 1998a]
[Verges et al., 2002]
[Cardinal et al., 2005]
[Jager et al., 2006]
[Jager et al., 2006]
[Engelbach et al., 1999]
[Gortz et al., 1999a]
[Gortz et al., 1999b]
[Hai et al., 1999]
[Kishi et al., 1999]
[Kishi et al., 1999]
[Mutch et al., 1999]
[Komminoth, 2000]
[Clerici et al., 2001]
[Turner et al., 2002]
[Turner et al., 2002]
[Turner et al., 2002]
[Turner et al., 2002]
[Turner et al., 2002]
[Turner et al., 2002]
[Turner et al., 2002]
[Langer et al., 2003]
[Ellard et al., 2005]
[Jap et al., 2005]
[Cetani et al., 2006]
[Jager et al., 2006]
[Bassett et al., 1998]
893+1G→A
893+1g→a
893+1G→C
IVS4+1(GT→CT)
893+1g→t
IVS4+1g→t
893+1g→t
IVS4+1G→T
IVS4-16del2
IVS4-16del2
nt5168G>A
sp
G
[Ellard et al., 2005]
894-4_896del7ins8
sp
sp
sp
sp
G
G
G
G
[Kopp et al., 2001]
[Ellard et al., 2005]
[Klein et al., 2005]
[Giraud et al., 1998]
IVS4 -1G>A
894 -1G>A
ns, K262X
G
[Bassett et al., 1998]
K262X
13
codon 259 (CTG→CGG)
878insCTGCAG
Q260X
Q260X
Q260P
889A→C
f
R261X
Q261X
Q261X
5178-9G→A
5178-9G→A
894-9G→A
894-9G→A
894-9G→A
IVS4-9G→A
5178-9g→a
5178-9g→a
5168g→a
5168g→a
5168g→a
5168g→a
5168g→a
5168g→a
5168g→a
IVS 894-9G>A
894-9G>A
IVS4 -9G→A
IVS4 -9G→A
IVS4 -9g→a
codon 262 ctagA→tcagCC
IVS4 -1(AG→AA)
894-1g→c
Mutation
a
c.784A>T
c.791T>C
c.791_824+27del61
c.795delG
c.794_802delGGCTGCTCT
c.794_802delGGCTGCTCT
c.794_802delGGCTGCTCT
c.795G>A
n/a
n/a
n/a
c.800T>C
c.802_803insT
c.803_804delAT
c.804T>A
c.804T>G
n/a
c.807_824+4del22
c.814_815insC
c.814_815insC
c.814_815insC
c.815_816insC
c.821A>C
Codon
Predicted
b
Effect
Type
262
264
264-275
265
265-268
265-268
265-268
265
265
265
265
267
268
268
268
268
268
269-275
272
272
272
272
274
ns, K262X
ms, L264P
sp
fs
if
if
if
ns, W265X
ns, W265X
ns, W265X
ns, W265X
ms, L267P
fs
fs
ns, Y268X
ns, Y268X
ns, Y268X
sp
fs
fs
fs
fs
ms, E274A
Intron 5
c.824+1delG
c.824+1G>A
c.824+1G>A
c.824+1G>A
c.824+1G>A
c.824+1G>A
c.824+2T>G
c.824+19delCCA
c.824+20delCAG
c.825-2A>G
c.825-1G>C
Exon 6
n/a
c.830C>A
c.841G>A
c.841G>A
c.841G>A
c.842G>A
c.850G>C
c.850G>C
c.851C>A
c.851C>A
n/a
c.857T>C
c.871C>G
c.878delC
c.879_892del14
276
277
281
281
281
281
284
284
284
284
284
286
291
293
293-298
c
Reference
Original designation
G
G
G
S (VIP)
G
S (HPT)
G
G
G
G
G
d
G
G
S (HPT)
G
G
G
S (GH/PRL)
G
G
G
G
G
[Wautot et al., 2002]
[Poncin et al., 1999]
[Turner et al., 2002]
[Toliat et al., 1997]
[Mutch et al., 1999]
[Miedlich et al., 2000]
[Clerici et al., 2001]
[Roijers et al., 2000]
[Agarwal et al., 1997]
[Giraud et al., 1998]
[Wautot et al., 2002]
[Poncin et al., 1999]
[Chico et al., 1998]
[Scarpellil et al., 2004]
[Roijers et al., 2000]
[Bartsch et al., 1998]
[Wautot et al., 2002]
[Tanaka et al., 1998b]
[Giraud et al., 1998]
[Wautot et al., 2002]
[Crepin et al., 2003]
[Verges et al., 2002]
[Uchino et al., 2000]
K262X
sp
sp
sp
sp
sp
sp
sp
sp
sp
sp
sp (RT)
G
S (HPT)
G
G
G
d
G
S (HPT)
S (PRL)
S (NFpit)
G
G
[Klein et al., 2005]
[Heppner et al., 1997]
[Crepin et al., 2003]
[Cardinal et al., 2005]
[Frank-Raue et al., 2005]
[Cetani et al., 2006]
[Cetani et al., 2000]
[Wrocklage et al., 2002]
[Wrocklage et al., 2002]
[Toliat et al., 1997]
[Hai et al., 2000]
ns, Y276X
ms, P277H
ms, G281R
ms, G281R
ms, G281R
ms, G281E
ms, A284P
ms, A284P
ms, A284E
ms, A284E
ms, A284Q
ms, L286P
ms, P291A
fs
fs
G
d
G
G
G
G
S (HPT)
S (HPT)
S (HPT)
G
G
G
G
S (HPT)
G
G
[Kouvaraki et al., 2002]
[Perrier et al., 2002]
[Wautot et al., 2002]
[Verges et al., 2002]
[Crepin et al., 2003]
[Cupisti et al., 2000]
[Dwight et al., 2000]
[Uchino et al., 2000]
[Bassett et al., 1998]
[Cardinal et al., 2005]
[Wautot et al., 2002]
[Agarwal et al., 1997]
[Scarpellil et al., 2004]
[Sato et al., 2000]
[Katai et al., 2006]
14
901T→C
5184del61
5187delG
789del9 (GCTCTGGCT)
904del9
5186del9
905G→A
W265X
W265X
W265X
910T→C
912insT
912delTA
914T→A
f
T268X
Y268X
5199-5220del22
924insC
924insC
924insC
925insC
E274A
codon 275 (AGG→AG)
934+1G→A
934+1G>A
IVS5 +1G→A
IVS5 +1G>A
IVS5 +1G→A
934+2T→G
5236-5238delCCA
5237-5239delCAG
A5296G
935-1g→c
Y276X
P277H
G281R
G281R
f
953G>A
G281E
960G→C
A284P
A284E
851C→A
A284Q
L286P
P291A
988delC
989del14
Mutation
a
c.892_897delCCACTC
insTCT
c.893delC
c.893delC
c.895delC
c.911delA
c.911delA
Codon
Type
c
Reference
Original designation
298-299 if
G
[Ellard et al., 2005]
1001-1002ins3del6
298
298
299
304
304
fs
fs
fs
fs
fs
G
G
G
G
G
[Hai et al., 1999]
[Wada et al., 2001]
[Ellard et al., 2005]
[Kong et al., 2001]
[Ellard et al., 2005]
1001delC
1001delC
1005delC
1021delA
1021delA
sp
sp (RT)
sp
sp
sp
sp
sp
sp
sp
sp
S (HPT)
G
G
G
G
G
G
S (HPT)
G
G
[Uchino et al., 2000]
[Mutch et al., 1999]
[Cebrian et al., 2003]
[Ellard et al., 2005]
[Klein et al., 2005]
[Snabboon et al., 2005a]
[Klein et al., 2005]
[Dwight et al., 2000]
[Mutch et al., 1999]
[Klein et al., 2005]
1022+1delG
ms, G305D
ns, S308X
ms, A309P
ns, K310X
ms, T311P
ms, T311P
ms, T311P
fs
ns, Y312X
ns, Y313X
ns, Y313X
ns, Y313X
ms, R314P
ms, R314P
ms, D315Y
ms, D315Y
fs
fs
fs
ns, E316X
fs
ms, H317Y
ms, H317Y
ms, H317R
ms, H317R
fs
ms, P320R
ms, P320L
ms, P320L
fs
fs
fs
ns, Y323X
G
G
G
S (HPT)
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
S (HPT)
S (NFpanc)
G
G
G
[Honda et al., 2000]
[Agarwal et al., 1997]
[Agarwal et al., 1997]
[Uchino et al., 2000]
[Wautot et al., 2002]
[Verges et al., 2002]
[Crepin et al., 2003]
[Yano et al., 2006]
[Agarwal et al., 1997]
[Mutch et al., 1999]
[Crepin et al., 2003]
[Verges et al., 2002]
[Giraud et al., 1998]
[Wautot et al., 2002]
[Ellard et al., 2005]
[Ellard et al., 2005]
[Giraud et al., 1998]
[Wautot et al., 2002]
[Poncin et al., 1999]
[Klein et al., 2005]
[Morelli et al., 2000]
[Wautot et al., 2002]
[Crepin et al., 2003]
[Roijers et al., 2000]
[Wautot et al., 2002]
[Klein et al., 2005]
[Klein et al., 2005]
[Tanaka et al., 1998a]
[Bergman et al., 2000b
[Moore et al., 2001]
[Morelli et al., 2000]
[Cebrian et al., 2003]
[Park et al., 2003]
G305D
S308X
A309P
K310X
T311P
T311P
1041A>C
Intron 6
c.912+1delG
c.912+1G>A
c.912+1G>A
c.912+1G>A
c.912+1G>A
c.912+1G>A
c.912+1G>C
c.912+2T>A
c.913-1G>C
c.913-1G>C
Exon 7
c.914G>A
n/a
c.925G>C
c.928A>T
c.931A>C
c.931A>C
c.931A>C
c.933delC
n/a
c.939T>G
c.939T>G
n/a
c.941G>C
c.941G>C
c.943G>T
c.943G>T
c.944_945insA
c.944_945insA
c.945_946insA
c.946G>T
c.949delC
c.949C>T
c.949C>T
c.950A>G
c.950A>G
c.955_956insT
c.959C>G
c.959C>T
c.959C>T
c.959_960delCC
c.961delT
e
c.961_962ins1
c.969C>A
Predicted
b
Effect
305
308
309
310
311
311
311
311
312
313
313
313
314
314
315
315
315
315
315
316
317
317
317
317
317
319
320
320
320
320
321
321
323
d
15
IVS6+1G→A
IVS6+1G>A
1022+1G>A
IVS6+1(GT→AT)
IVS6+1G→A
IVS6+1(GT→CT)
1022+2t→a
IVS6-1G→C
IVS6-1(AG→AC)
codon 311 (ACC→AC)
Y312X
939T→G
1049T>G
Y313X
R314P
R314P
D315Y
D315Y
1054insA
1054insA
1055insA
codon 316 (GAA→TAA)
1059delC
H317Y
f
1061C>T
1060A→G
H317R
codon 318 (ATC→ATCT)
codon 320 (CCC→CGC)
1069C→T
6071C→T
codon 320 (ccc→c)
1071delT
1071ins1
969C>A
Codon
Predicted
b
Effect
Type
c.969C>A
n/a
n/a
c.973G>C
c.979delT
c.979delT
c.979delT
c.979delT
c.981C>G
c.981_982insAGC
c.989G>C
c.989G>C
c.993_1000dupCCGCAATG
c.1001delT
c.1003delC
c.1006delG
c.1009G>C
c.1010C>A
c.1010C>A
c.1010C>A
c.1010C>A
c.1010C>A
c.1015C>T
c.1018G>A
c.1021T>C
n/a
n/a
c.1022G>A
c.1022G>A
c.1022G>A
c.1022G>A
c.1022G>A
c.1022G>A
n/a
n/a
n/a
n/a
n/a
n/a
n/a
n/a
n/a
n/a
c.1023G>A
c.1024delG
323
323
323
325
327
327
327
327
327
327
330
330
331-334
334
335
336
337
337
337
337
337
337
339
340
341
341
341
341
341
341
341
341
341
341
341
341
341
341
341
341
341
341
341
341
342
ns, Y323X
ns, Y323X
ns, Y323X
ms, A325P
fs
fs
fs
fs
ns, Y327X
if
ms, R330P
ms, R330P
fs
fs
fs
fs
ms, A337P
ms, A337D
ms, A337D
ms, A337D
ms, A337D
ms, A337D
ns, Q339X
ms, A340T
ms, W341R
ms, W341R
ms, W341R
ns, W341X
ns, W341X
ns, W341X
ns, W341X
ns, W341X
ns, W341X
ns, W341X
ns, W341X
ns, W341X
ns, W341X
ns, W341X
ns, W341X
ns, W341X
ns, W341X
ns, W341X
ns, W341X
ns, W341X
fs
G
G
G
G
G
G
G
G
S (HPT)
S (HPT)
S (GAS)
S (GAS)
G
G
G
G
G
G
G
G
G
G
G
S (HPT)
G
G
G
G
G
G
G
G
G
G
G
G
G
G
S (HPT)
G
G
G
G
G
G
c.1024delG
c.1024G>C
c.1031C>G
c.1031C>G
c.1033delG
c.1033delG
c.1033delG
c.1033delG
342
342
344
344
345
345
345
345
fs
ms, A342P
ms, T344R
ms, T344R
fs
fs
fs
fs
G
G
G
G
G
G
S (GAS)
S (GAS)
Mutation
a
c
16
Reference
Original designation
[Tso et al., 2003]
[Agarwal et al., 1997]
[Wautot et al., 2002]
[Park et al., 2003]
[Bassett et al., 1998]
[Teh et al., 1998a]
[Wautot et al., 2002]
[Ellard et al., 2005]
[Miedlich et al., 2000]
[Sato et al., 2000]
[Wang et al., 1998]
[Wang et al., 1998]
[Klein et al., 2005]
[Ellard et al., 2005]
[Chudek et al., 2006]
[Fujii et al., 1999]
[Roijers et al., 2000]
[Giraud et al., 1998]
[Wautot et al., 2002]
[Verges et al., 2002]
[Cebrian et al., 2003]
[Cardinal et al., 2005]
[Klein et al., 2005]
[Shan et al., 1998]
[Tso et al., 2003]
[Giraud et al., 1998]
[Wautot et al., 2002]
[Bassett et al., 1998]
[Mutch et al., 1999]
[Mutch et al., 1999]
[Lairmore et al., 2004]
[Klein et al., 2005]
[Klein et al., 2005]
[Teh et al., 1998a]
[Teh et al., 1998a]
[Dackiw et al., 1999]
[Dackiw et al., 1999]
[Cebrian et al., 1999]
[Uchino et al., 2000]
[Kouvaraki et al., 2002]
[Wautot et al., 2002]
[Cebrian et al., 2003]
[Ellard et al., 2005]
[Jager et al., 2006]
[Chandrasekharappa et
al., 1997]
[Agarwal et al., 1997]
[Ukita et al., 2003]
[Agarwal et al., 1997]
[Morelli et al., 2000]
[Sakurai et al., 1998]
[Hai et al., 1999]
[Kawamura et al., 2005]
[Kawamura et al., 2005]
Y323X (TAC→TAA)
Y323X
Y323X
973G>C
codon 327 (delT)
1089delT
1089delT
1089delT
Y327X (TAC→TAG)
1091insAGC
R330P (G→C)
R330P (G→C)
codon 331 (dupCCGCAATG)
1111delT
1113delC
1114delG
1119G→C
A337D
A337D
A337D
A337D
1010C→A
codon 339 (CAG→TAG)
A340T
W341R (TGG→CGG)
W341R
W341R
W341X (TGG→TAG)
1022G→A
1022G→A
1022G>A
codon 341 (TGG→TAG)
codon 341 (TGG→TAG)
W341X
W341X
W341X
W341X
W341X
f
Y341X
W341X
W341X
W341X
W341X
1133G→A
1132delG
1132delG
A342P
T344R
T344R
1143delG
1142delG
1143delG
1143delG
Mutation
a
c.1033delG
c.1035delC
c.1043T>A
c.1045C>T
c.1045C>T
c.1045C>T
c.1045C>T
c.1045C>T
c.1045C>T
c.1045C>T
c.1045C>T
Codon
Predicted
b
Effect
Type
345
345
348
349
349
349
349
349
349
349
349
fs
fs
ms, I348N
ns, Q349X
ns, Q349X
ns, Q349X
ns, Q349X
ns, Q349X
ns, Q349X
ns, Q349X
ns, Q349X
Intron 7
c.1049+1G>A
c.1049+1G>A
c.1049+2_1049+5delTGAG
c.1049+5G>A
c.1049_1049+8del
AGTGAGGAT
c.1050-5_1051delCACAGCT
c.1050-2A>G
c.1050-2A>G
c.1050-1G>A
c.1050-1G>T
c
Reference
Original designation
S (GAS)
S (HPT)
G
G
G
G
S (Mel)
G
G
G
G
[Kawamura et al., 2005]
[Farnebo et al., 1998]
[Roijers et al., 2000]
[Bassett et al., 1998]
[Bassett et al., 1998]
[Mutch et al., 1999]
[Nord et al., 2000]
[Wautot et al., 2002]
[Verges et al., 2002]
[Ellard et al., 2005]
[Klein et al., 2005]
1143delG
1144delC
sp
G
[Bassett et al., 1998]
sp
sp
sp (RT)
sp
G
d
G
G
G
[Verges et al., 2002]
[Pannett et al., 2003]
[Roijers et al., 2000]
[Ellard et al., 2005]
sp
sp (RT)
sp
sp
sp
S (NFpanc)
G
S (TSH)
G
G
[Toliat et al., 1997]
[Tanaka et al., 1998a]
[Schmidt et al., 1999]
[Klein et al., 2005]
[Pannett et al., 2001]
6618del7
[Klein et al., 2005]
[Rix et al., 2004]
[Jager et al., 2006]
[Jager et al., 2006]
[Jager et al., 2006]
[Bergman et al., 2000a]
[Cardinal et al., 2005]
[Warner et al., 2004]
[Cardinal et al., 2005]
[Shimizu et al., 1997]
[Verges et al., 2002]
[Wautot et al., 2002]
[Crepin et al., 2003]
[Balogh et al., 2004]
[Klein et al., 2005]
[Wautot et al., 2002]
[Cupisti et al., 2000]
[Uchino et al., 2000]
[Boni et al., 1998]
[Bassett et al., 1998]
[Pannett et al., 2001]
[Wautot et al., 2002]
[Dwight et al., 2002]
[Roijers et al., 2000]
[Chandrasekharappa et
al., 1997]
[Agarwal et al., 1997]
codon 351 (TAC → CTAC)
Y351H
Exon 8
c.1050_1051insC
c.1051T>C
c.1051T>C
c.1051T>C
c.1053C>G
c.1057T>G
c.1057T>G
c.1058_1060delACT
c.1058_1060delACT
c.1059C>A
c.1060delT
c.1060delT
c.1060delT
c.1062C>A
c.1063C>T
c.1069G>C
c.1072G>T
c.1072G>T
c.1074_1075delGGinsAA
c.1075_1077delGAG
c.1075_1077delGAG
c.1075_1077delGAG
c.1081_1083dupTAC
c.1085_1098dup14
c.1087_1089delGAG
351
351
351
351
351
353
353
53-54
53-54
353
354
354
354
354
355
357
358
358
358-359
359
359
359
361
362-366
363
fs
ms, Y351H
ms, Y351H
ms, Y351H
ns, Y351X
ms, Y353D
ms, Y353D
fs
fs
ns, Y353X
fs
fs
fs
ns, C354X
ms, R355W
ms, D357H
ns, E358X
ns, E358X
ms, E359K
if
if
if
if
fs
if
G
G
G
G
G
G
G
d
G
d
G
d
G
G
G
G
G
G
G
G
S (HPT)
S (ANG)
G
G
G
S (HPT)
G
G
c.1087_1089delGAG
363
if
G
17
1153T→A
Q349X
Q349X
1045C→T
Q349X
Q349X
Q349X
Q349X
codon 349 (CAG→TAG)
exon 7 donor splice site
gtgag→atgag
1159+1g→a
codon 350 (delGAgt)
intron 7 (+5g→a)
1159_1159+8del9
1160-2a→g
IVS7-2a→g
IVS7 -1(AG→AA)
agCT→atCT (int 7)
1161T→C
1161T→C
1163C→G
6630T→G
f
1056T→G (Y353D)
1057-1059delACT
1057-1060delACT
Y353X
1170delT
1170delT
1170delT
C354X
codon 355 (CGG→TGG)
D357H
E358X
E358X
1184-1185delGGinsAA
codon 358/359 (delGAG)
codon 359 (del3)
1182delGAG
1193insTAC
1195dup14
E363del
E363del
Codon
Predicted
b
Effect
Type
c.1087_1089delGAG
c.1087_1089delGAG
c.1087_1089delGAG
c.1087_1089delGAG
c.1090_1100del11ins
ATCTACA
c.1092_1093delCT
c.1098A>T
c.1098A>T
c.1102_1108delGCCAATG
c.1102_1108delGCCAATG
c.1103C>A
c.1103C>A
c.1116C>G
c.1116C>G
c.1117C>T
c.1117C>T
c.1119delC
c.1119delC
c.1119delC
c.1124T>C
c.1133A>T
c.1154delC
c.1154C>T
c.1155_1156insG
c.1157delG
c.1159delG
c.1159_1169dup11
363
363
363
363
364-367
if
if
if
if
fs
364-365
366
366
368-370
368-370
368
368
372
372
373
373
373
373
373
375
378
385
385
385
386
387
387-390
c.1162G>T
c.1162G>T
c.1162G>T
c.1162G>T
c.1169delC
c.1174delG
c.1174G>T
c.1174G>T
c.1174_1175insG
c.1177C>T
c.1177C>T
c.1183C>T
Mutation
a
Exon 9
c.1189_1192delACCC
c.1192delC
c.1192delC
c.1192C>T
c.1200_1208delAGGTTCCG
C insGGGT
c.1204_1208delTCCGC
c.1204_1208delTCCGC
c.1204_1208delTCCGC
c.1213C>T
c.1213C>T
c
Reference
Original designation
G
G
d
G
G
G
[Agarwal et al., 1997]
[Zhuang et al., 1997a]
[Miedlich et al., 2001]
[Turner et al., 2002]
[Jap et al., 2005]
E363del
E363del
E363del
6660delGAG
1200del11insATCTACA
fs
ms, E366D
ms, E366D
fs
fs
ms, A368D
ms, A368D
ms, I372M
ms, I372M
ms, P373S
ms, P373S
fs
fs
fs
ms, L375P
ms, E378V
fs
ms, A385V
fs
fs
fs
fs
G
G
G
S (GAS)
S (GAS)
G
G
G
G
G
G
G
S (LCNEC)
G
G
S (HPT)
G
G
S (HPT)
G
S (GAS)
S (HPT)
[Agarwal et al., 1997]
[Jager et al., 2006]
[Jager et al., 2006]
[Zhuang et al., 1997a]
[Goebel et al., 2000]
[Giraud et al., 1998]
[Wautot et al., 2002]
[Wautot et al., 2002]
[Verges et al., 2002]
[Bergman et al., 2000a
[Cardinal et al., 2005]
[Bassett et al., 1998]
[Debelenko et al., 2000]
[Ellard et al., 2005]
[Ellard et al., 2005]
[Karges et al., 2000]
[Morelli et al., 2000]
[Roijers et al., 2000]
[Uchino et al., 2000]
[Morelli et al., 2000]
[Wang et al., 1998]
[Heppner et al., 1997]
1202del2
388
388
388
388
390
392
392
392
392
393
393
395
ns, E388X
ns, E388X
ns, E388X
ns, E388X
fs
fs
ns, E392X
ns, E392X
fs
ns, Q393X
ns, Q393X
ns, Q395X
G
S (HPT)
G
G
G
G
S (GLU)
G
G
G
S (CAR)
G
1264C→T
1265insG
1267delG
1269delG
1279ins11
(GAGGAGCGGCC)
[Bassett et al., 1998]
E388X
[Sato et al., 2000]
E388X
[Wautot et al., 2002]
E388X
[Tso et al., 2003]
E388X
[Ellard et al., 2005]
1279delC
[Agarwal et al., 1997]
1280delG
[Hessman et al., 1998] E392X
[Engelbach et al., 1999] 1284G>T (E392X)
[Ellard et al., 2005]
1284insG
[Mutch et al., 1999]
1177C→T
[Fujii et al., 1999]
Q393X
[Lim et al., 2006]
Q395X
397-398
398
398
398
400-403
fs
fs
fs
ns, Q398X
fs
G
G
G
G
G
[Wautot et al., 2002]
[Giraud et al., 1998]
[Wautot et al., 2002]
[Roijers et al., 2000]
[Turner et al., 2002]
1298del4
1300delC
1300delC
402-403
402-403
402-403
405
405
fs
fs
fs
ms, Q405X
ms, Q405X
G
G
G
G
G
[Ellard et al., 2005]
[Ellard et al., 2005]
[Ellard et al., 2005]
[Park et al., 2003]
[Klein et al., 2005]
1314delTCCGC
1314delTCCGC
1314delTCCGC
1213C>T
18
1208A→T
1208A→T
1212delGCCAATG
1212delGCCAATG
A368D
A368D
I372M
I372M
6690C→T
1117C→T
codon 373 (delC)
1226delC
1229delC
L375P
E378V
1264delC
1302C→T
7210 AGGTTCCGC→GGGT
codon 405 (CAG→TAG)
Mutation
a
c.1213C>T
c.1215_1216insA
c.1216delG
c.1216delG
c.1217_1218insA
c.1218_1222delCCCTG
c.1227C>A
c.1230C>A
c.1231G>C
c.1238T>C
c.1240_1275del36
c.1241T>A
c.1241_1243delTGC
c.1241_1243delTGC
c.1243C>T
c.1243C>T
c.1243C>T
c.1243C>T
c.1243C>T
c.1243C>T
c.1243C>T
c.1243C>T
c.1243C>T
c.1243C>T
c.1243C>T
c.1243C>T
c.1243C>T
c.1243C>T
c.1243C>T
c.1243C>T
c.1243C>T
c.1243C>T
c.1243C>T
c.1244G>C
c.1244G>C
c.1250C>A
c.1252G>A
c.1252G>A
c.1252G>A
c.1252G>A
c.1252G>A
c.1252G>A
c.1252G>A
c.1252G>A
c.1252G>A
c.1252G>A
c.1252G>A
c.1252G>C
c.1252G>C
c.1252G>C
c.1252G>C
c.1252G>C
c.1252G>T
Codon
Predicted
b
Effect
Type
405
405
406
406
406
406-408
409
410
411
413
414-425
414
414-415
414-415
415
415
415
415
415
415
415
415
415
415
415
415
415
415
415
415
415
415
415
415
415
417
418
418
418
418
418
418
418
418
418
418
418
418
418
418
418
418
418
ms, Q405X
fs
fs
fs
fs
fs
ns, C409X
ms, F410L
ms, A411P
ms, L413P
if
ms, L414Q
if
if
ns, R415X
ns, R415X
ns, R415X
ns, R415X
ns, R415X
ns, R415X
ns, R415X
ns, R415X
ns, R415X
ns, R415X
ns, R415X
ns, R415X
ns, R415X
ns, R415X
ns, R415X
ns, R415X
ns, R415X
ns, R415X
ns, R415X
ms, R415P
ms, R415P
ns, Y417X
ms, D418N
ms, D418N
ms, D418N
ms, D418N
ms, D418N
ms, D418N
ms, D418N
ms, D418N
ms, D418N
ms, D418N
ms, D418N
ms, D418H
ms, D418H
ms, D418H
ms, D418H
ms, D418H
ms, D418Y
G
G
G
G
G
G
G
S (ACTH)
d
G
G
S (HPT)
G
d
G
d
G
G
G
G
S (NFpanc)
G
S (HPT)
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
d
G
G
G
G
d
G
G
c
19
Reference
Original designation
[Jager et al., 2006]
[Dackiw et al., 1999]
[Giraud et al., 1998]
[Wautot et al., 2002]
[Kouvaraki et al., 2002]
[Bassett et al., 1998]
[Cardinal et al., 2005]
[Zhuang et al., 1997b]
[Pannett et al., 2003]
[Asteria et al., 2001]
[Uchino et al., 2000]
[Ellard et al., 2005]
[Sato et al., 1998]
[Ohye et al., 1998]
[Lemmens et al., 1997]
[Giraud et al., 1998]
[Teh et al., 1998b]
[Hessman et al., 1998]
[Morelli et al., 2000]
[Miedlich et al., 2000]
[Roijers et al., 2000]
[Clerici et al., 2001]
[Verges et al., 2002]
[Wautot et al., 2002]
[Crepin et al., 2003]
[Tso et al., 2003]
[Ellard et al., 2005]
[Ellard et al., 2005]
[Ellard et al., 2005]
[Ellard et al., 2005]
[Klein et al., 2005]
[Klein et al., 2005]
[Klein et al., 2005]
[Bergman et al., 2000a]
[Cardinal et al., 2005]
[Klein et al., 2005]
[Heppner et al., 1997]
[Teh et al., 1998a]
[Bassett et al., 1998]
[Giraud et al., 1998]
[Hai et al., 2000]
[Kytola et al., 2001]
[Wautot et al., 2002]
[Verges et al., 2002]
[Turner et al., 2002]
[Turner et al., 2002]
[Crepin et al., 2003]
[Warner et al., 2004]
[Cardinal et al., 2005]
[Ellard et al., 2005]
[Jap et al., 2005]
[Cetani et al., 2006]
[Ozturk et al., 2006]
1323C→T
1325insA
1325delG
1325delG
1216_1217insA
codon 406-408 (delCCCTG)
1227C→A
F410L (TTC→TTA)
A411P
c.1348T→C
1350del36
L414Q
1350del3
1350del3
R415X
R415X
R415X
R415X
R415X
R415X
1353C→T
R415X
R415X
R415X
1353C>T
R415X
R415X
R415X
R415X
R415X
codon 415 (CGA→TGA)
codon 415 (CGA→TGA)
codon 415 (CGA→TGA)
7254G→C
1244G→C
codon 417 (TAC→TAA)
D418N
D418N
D418N
D418N
D418N
D418N
D418N
D418N
7262G→A
7262G→A
1362G>A
1252G>C
1252G→C
D418H
D418H (GAC→CAC)
D418H
D418Y (GAC→TAC)
Codon
Predicted
b
Effect
Type
c.1252_1263del12
c.1252_1263del12
c.1252_1263del12
c.1253_1254delAC
c.1253_1254delAC
c.1253_1254delAC
c.1253_1255delACG
c.1254delC
c.1262G>A
c.1266delA
c.1266delA
c.1266delA
n/a
c.1268G>A
c.1268G>A
c.1268G>A
c.1268G>A
n/a
n/a
c.1268G>C
c.1269G>A
c.1270_1271insG
c.1273_1274insG
c.1273_1274insG
c.1274_1276delAGG
c.1274_1276delAGG
c.1274_1276delAGG
c.1274_1276delAGG
n/a
n/a
n/a
c.1280_1285delGTCCCA
c.1286C>A
c.1298A>C
c.1298A>C
c.1298_1308del11
c.1304delG
c.1304delG
c.1304delG
c.1306T>C
418-421
418-421
418-421
418
418
418
418-419
418
421
422
422
422
423
423
423
423
423
423
423
423
423
424
425
424
425-426
425-426
425-426
425-426
427-429
427
427
427-429
429
433
433
433-436
435
435
435
436
if
if
if
fs
fs
fs
if
fs
ms, C421Y
fs
fs
fs
ms, W423R
ns, W423X
ns, W423X
ns, W423X
ns, W423X
ns, W423X
ns, W423X
ms, W423S
ns, W423X
fs
fs
fs
if
if
if
if
if
ms, S427R
ms, S427R
if
ms, T429K
ms, H433P
ms, H433P
fs
fs
fs
fs
ms, W436R
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
S (INS)
S (GAS)
S (GAS)
G
G
G
G
G
c.1306T>C
c.1306T>C
c.1307G>A
436
436
436
ms, W436R G
ms, W436R G
ns, W436X G
c.1307G>A
c.1308G>A
n/a
n/a
c.1308G>T
n/a
c.1309delG
c.1309delG
c.1312_1313insA
436
436
436
436
436
436
437
437
438
ns, W436X
ns, W436X
ns, W436X
ns, W436X
ms, W436C
ms, W436Y
fs
fs
fs
Mutation
a
c
G
G
G
G
G
G
G
G
G
20
Reference
Original designation
[Giraud et al., 1998]
[Verges et al., 2002]
[Wautot et al., 2002]
[Giraud et al., 1998]
[Poncin et al., 1999]
[Wautot et al., 2002]
[Agarwal et al., 1997]
[Hai et al., 2000]
[Klein et al., 2005]
[Giraud et al., 1998]
[Verges et al., 2002]
[Wautot et al., 2002]
[Cebrian et al., 2003]
[Bergman et al., 2000a]
[Cardinal et al., 2005]
[Cardinal et al., 2005]
[Jager et al., 2006]
[Ellard et al., 2005]
[Ellard et al., 2005]
[Mayr et al., 1998]
[Takagi et al., 2006]
[Wautot et al., 2002]
[Wautot et al., 2002]
[Crepin et al., 2003]
[Giraud et al., 1998]
[Hai et al., 2000]
[Verges et al., 2002]
[Wautot et al., 2002]
[Kopp et al., 2001]
[Dackiw et al., 1999]
[Kouvaraki et al., 2002]
[Langer et al., 2001]
[Shan et al., 1998]
[Kawamura et al., 2005]
[Kawamura et al., 2005]
[Hai et al., 2000]
[Bergman et al., 2000a]
[Cardinal et al., 2005]
[Ellard et al., 2005]
[Chandrasekharappa et
al., 1997]
[Agarwal et al., 1997]
[Klein et al., 2005]
[Chandrasekharappa et
al., 1997]
[Mayr et al., 1998]
[Crepin et al., 2003]
[Agarwal et al., 1997]
[Wautot et al., 2002]
[Klein et al., 2005]
[Langer et al., 2002]
[Bartsch et al., 1998]
[Langer et al., 2001]
[Sakurai et al., 1998]
1362del12
1362del12
1362del12
1363delAC
1363del2
1363delAC
D418del
1364delC
codon 421 (TGC→TAC)
1374delA
1374delA
1374delA
W423R
7278G→A
1268G→A
1268G→A
1378G→A
W423X
W423X
1378G→C
W423X (TGG→TGA)
1377insG
1381insG
1381insG
1384delAGG
E424del
1384delAGG
1384delAGG
S427T+PT428-429del
S427R
S427R
1390delGTCCCA
T429K
H433P
H433P
1408del11
7312delG
1304-1305delG
1414delG
W436R
W436R
codon 436 (TGG→CGG)
W436X (TGG→TAG)
1417G→A
1418G>A
W436X
f
Y436X
codon 436 (TGG→TGT)
W436Y
437fs 15aaX GCC→CC
1419delG
1422insA
Mutation
a
c.1313_1331del19
c.1317_1320delTCTT
c.1317_1320delTCTT
c.1319_1320delTT
c.1319_1320delTTinsGAAA
e
c.1319_1320ins4
c.1320delT
c.1324C>T
c.1324C>T
c.1324C>T
c.1324C>T
c.1327T>C
c.1331T>C
c.1331T>C
c.1331T>C
c.1339T>C
c.1339_1349del11
c.1339_1349del11
c.1339_1349del11
c.1340_1341delTT
c.1342_1350+2del11
c.1342_1350+2del11
c.1342_1350+2del11
c.1342_1350+2del11
c.1348C>T
c.1348C>T
c.1348C>T
c.1348C>T
Intron 9
c.1350+1G>A
c.1350+1G>A
c.1350+1_1350+11del11
c.1350+1_1350+11del11
c.1350+1_1350+11del11
c.1350+1_1350+11del11
Codon
Predicted
b
Effect
Type
438-444
439-440
439-440
440
440
440
440
442
442
442
442
443
444
444
444
447
447-450
447-450
447-450
447
448-450
448-450
448-450
448-450
450
450
450
450
fs
fs
fs
fs
fs
fs
fs
ns, Q442X
ns, Q442X
ns, Q442X
ns, Q442X
ms, S443P
ms, L444P
ms, L444P
ms, L444P
ms, F447L
fs
fs
fs
fs
sp
sp
sp
sp
ns, Q450X
ns, Q450X
ns, Q450X
ns, Q450X
S (HPT)
G
G
G
G
G
S (CAR)
G
G
S (HPT)
G
S (HPT)
G
G
G
G
G
G
G
G
G
G
G
G
G
S (VIP)
G
G
sp (RT)
sp
sp
sp
sp
sp
G
G
G
G
G
G
[Carrasco et al., 2004]
[Ellard et al., 2005]
[Mutch et al., 1999]
[Bergman et al., 2000a]
[Turner et al., 2002]
[Klein et al., 2005]
IVS9 +1G>A
1460+1G>A
IVS9+1del11
7361del11
7361-7371del11
IVS9+1
(delGTGAGGGACAG)
c
d
Reference
Original designation
[Carling et al., 1998]
[Giraud et al., 1998]
[Verges et al., 2002]
[Wautot et al., 2002]
[Bassett et al., 1998]
[Wautot et al., 2002]
[Yano et al., 2006]
[Shimizu et al., 1997]
[Roijers et al., 2000]
[Cetani et al., 2000]
[Ellard et al., 2005]
[Cetani et al., 2000]
[Cetani et al., 1999]
[Rix et al., 2004]
[Jager et al., 2006]
[Agarwal et al., 1997]
[Giraud et al., 1998]
[Verges et al., 2002]
[Wautot et al., 2002]
[Wautot et al., 2002]
[Dackiw et al., 1999]
[Wautot et al., 2002]
[Crepin et al., 2003]
[Cardinal et al., 2005]
[Hai et al., 1999]
[Gortz et al., 1999a]
[Morelli et al., 2000]
[Klein et al., 2005]
1313del19
1424del4
1424del4
1429delTT
codon 440/441 (TT→GAAA)
1429ins4
codon 440 (CTT→T)
Q442X
1434C→T
Q442X
Q442X
S443P
L444P
L444P
f
1451T→C
F447L
1449del11
1449del11
1449del11
1449delTT
1452del11
1452del11
1452del11
1342-IVS9+2del
Q450X
Q450X
Q450X
codon 450 (CAG→TAG)
c.1350+1_1350+11del11
c.1350+1_1350+14del14
insAT
c.1350+2T>A
c.1350+4_1350+5delAG
c.1350+4_1350+14del11
sp
sp
G
G
[Jager et al., 2006]
[Hai et al., 1999]
IVS9+1del11
1460+1del14insAT
sp
sp
sp
G
G
G
[Klein et al., 2005]
[Giraud et al., 1998]
[Klein et al., 2005]
c.1351-9C>G
c.1351-4C>T
c.1351-4_1352delCCAGGT
c.1351-3_1359del12
sp (RT)
sp
sp
sp
G
S (ADR)
G
G
[Lemos et al., 2007]
[Schulte et al., 1999]
[Jager et al., 2006]
[Klein et al., 2005]
IVS9+2(GT→GA)
1460+4del2
IVS9+4
(delAGGGACAGCTG)
c.1351-9C>G
c.1351-2A>C
sp
G
c.1351-2A>T
c.1351-1G>T
sp
sp (RT)
G
G
[Martin-Campos et al.,
1999]
[Ellard et al., 2005]
[Tala et al., 2006]
21
7574-4c→t
IVS9-4del6
IVS9-3
(delCAGGTGCGGCAG)
1461-2A>C
1461-2A>T
IVS9-1G>T
Mutation
a
Codon
Predicted
b
Effect
Type
c
Reference
Exon 10
c.1351delG
c.1356_1359delGCAG
c.1356_1367del12
451
fs
452-453 fs
452-456 if
S (CAR)
G
G
c.1356_1367del12
452-456 if
G
c.1357delC
453
c.1357delC
453
c.1357C>T
453
c.1357C>T
453
c.1361delA
454
c.1361_1362delAG
454
c.1363_1367delGTGCG
455-456
c.1363_1367delGTGCG
455-456
c.1374_1381delGAGCCGAG 458-461
c.1374_1381delGAGCCGAG 458-461
e
459
c.1377_1378ins6
e
459
c.1377_1378ins6
e
c.1377_1378ins6
459
e
c.1377_1378ins6
459
c.1377_1419del43
459-473
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
c.1378C>T
460
n/a
n/a
fs
fs
ns, Q453X
ns, Q453X
fs
fs
fs
fs
fs
fs
if
if
if
if
fs
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
ns, R460X
fs
G
G
G
G
S (HPT)
S (HPT)
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
S (HPT)
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
22
Original designation
[Debelenko et al., 1997] 1461delG
[Hai et al., 2000]
1465del4
[Teh et al., 1998a]
1466 del12
(GCAGAAGGTGCG)
[Kytola et al., 2001]
1466del12
(GCAGAAGGTGCG)
[Turner et al., 2002]
7584delC
[Ellard et al., 2005]
1467delC
[Bassett et al., 1998]
Q453X
[Jager et al., 2006]
1467C→T
[Uchino et al., 2000]
1470delA
[Sato et al., 2001]
1471delAG
[Tanaka et al., 1998a]
1472del5
[Sakurai et al., 1998]
1473del5
[Agarwal et al., 1997]
1484del8
[Klein et al., 2005]
codon 458 (delGAGCCGAG)
[Giraud et al., 1998]
1487ins6
[Wautot et al., 2002]
1487ins6
[Wautot et al., 2002]
1487ins6
[Verges et al., 2002]
1487ins6
[Ellard et al., 2005]
1487del43
[Agarwal et al., 1997]
R460X
[Agarwal et al., 1997]
R460X
[Bassett et al., 1998]
R460X
[Giraud et al., 1998]
R460X
[Giraud et al., 1998]
R460X
[Olufemi et al., 1998]
R460X
[Sato et al., 2000]
R460X
[Bergman et al., 2000a] 7622C→T
[Kouvaraki et al., 2002] R460X
[Wautot et al., 2002]
R460X
[Wautot et al., 2002]
R460X
[Wautot et al., 2002]
R460X
[Wautot et al., 2002]
R460X
[Wautot et al., 2002]
R460X
[Wautot et al., 2002]
R460X
[Wautot et al., 2002]
R460X
[Wautot et al., 2002]
R460X
[Wautot et al., 2002]
R460X
[Verges et al., 2002]
R460X
[Verges et al., 2002]
R460X
[Crepin et al., 2003]
1488C>T
[Crepin et al., 2003]
1488C>T
[Matsuzaki et al., 2004] R460X
[Cardinal et al., 2005]
1378C→T
[Cardinal et al., 2005]
1378C→T
[Ellard et al., 2005]
R460X
[Klein et al., 2005]
codon 460 (CGA→TGA)
[Klein et al., 2005]
codon 460 (CGA→TGA)
[Klein et al., 2005]
codon 460 (CGA→TGA)
[Jager et al., 2006]
1488C→T
[Cebrian et al., 2003]
1489dup10
Mutation
a
c.1381_1382insCC
c.1381_1382insCC
c.1381_1382insCC
c.1382_1389dup
AGGCCGAG
c.1382_1404del23
c.1387G>T
Codon
Predicted
b
Effect
Type
461
461
461
461-463
fs
fs
fs
fs
461-468 fs
463
ns, E463X
c.1388_1392delAGGC
463-464
c.1388_1395delAGGCGGCC 463-465
c.1388_1410del23
463-470
c.1393_1396delGCCG
465-466
c.1395_1402delCGAGGCCG 465-468
insGCACCCGC
c.1395_1442del48
465-481
e
466
c.1398_1399ins17
e
466
c.1398_1399ins17
c.1399_1400insG
467
e
467
c.1399_1400ins2
c.1405G>T
469
c.1406_1413dup
469-471
AGCCGTGG
c.1413G>A
471
c.1413G>A
471
c.1413G>A
471
c.1413G>A
471
c.1415_1416insG
472
c.1415_1416insG
472
c.1417G>T
473
c.1417G>T
473
c.1417G>T
473
c.1417G>T
473
c.1429delG
477
c.1429G>T
477
c.1429G>T
477
c.1429G>T
477
c.1429G>T
477
c.1429G>T
477
c.1429_1430insG
477
c.1429_1430insG
477
c.1445delG
482
c.1445_1446insG
482
c.1445_1446insG
482
c.1450_1462del13
484-488
c.1450_1462del13
484-488
c.1457_1458delAG
486
c.1477_1478delCCinsG
493
c.1478_1479insC
493
c.1478_1479insC
493
c.1485_1486insC
495
c.1485_1486insC
495
c.1485_1486insC
495
c.1496_1524del29
499-508
c.1497delA
499
c.1497delA
499
c
Reference
Original designation
G
G
G
G
[Giraud et al., 1998]
[Verges et al., 2002]
[Wautot et al., 2002]
[Turner et al., 2002]
1491insCC
1491insCC
1491insCC
7616insGAGGCCGA
G
G
1486del23
fs
fs
fs
fs
if
G
G
G
G
G
if
fs
fs
fs
fs
ns, E469X
fs
G
G
G
G
G
S (HPT)
G
[Wautot et al., 2002]
[Jakobovitz-Picard et al.,
2000]
[Cebrian et al., 2003]
[Wautot et al., 2002]
[Ellard et al., 2005]
[Mutch et al., 1999]
[Jakobovitz-Picard et al.,
2000]
[Cebrian et al., 2003]
[Giraud et al., 1998]
[Wautot et al., 2002]
[Langer et al., 2001]
[Agarwal et al., 1997]
[Forsberg et al., 2001]
[Klein et al., 2005]
ns, W471X
ns, W471X
ns, W471X
ns, W471X
fs
fs
ns, E473X
ns, E473X
ns, E473X
ns, E473X
fs
ns, E477X
ns, E477X
ns, E477X
ns, E477X
ns, E477X
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
G
G
S (Epend)
G
G
G
G
G
G
S (GAS)
G
G
G
G
G
G
G
G
S (INS)
G
G
G
G
S (FSH/LH)
G
G
G
S (HPT)
G
G
G
G
G
[Mutch et al., 1999]
[Valdes et al., 1999]
[Lamszus et al., 2001]
[Lairmore et al., 2004]
[Roijers et al., 2000]
[Wautot et al., 2002]
[Dackiw et al., 1999]
[Kouvaraki et al., 2002]
[Klein et al., 2005]
[Kawamura et al., 2005]
[Clerici et al., 2001]
[Dackiw et al., 1999]
[Kouvaraki et al., 2002]
[Klein et al., 2005]
[Klein et al., 2005]
[Klein et al., 2005]
[Poncin et al., 1999]
[Cavaco et al., 2002]
[Moore et al., 2001]
[Morelli et al., 2000]
[Morelli et al., 2000]
[Ellard et al., 2005]
[Ellard et al., 2005]
[Wrocklage et al., 2002]
[Bartsch et al., 1998]
[Wautot et al., 2002]
[Verges et al., 2002]
[Cetani et al., 2000]
[Wautot et al., 2002]
[Verges et al., 2002]
[Kakizawa et al., 2000]
[Giraud et al., 1998]
[Papillon et al., 2001]
23
g7614G→T
1498del5
1498del8
1498del23
1392delGGCC
g7622-7630ins/del
CGAGGCCG→GCACCCGC
1505del48
1508ins17
1508ins17
1509-1510insG
1509ins2
E469X
codon 469 (dupAGCCGTGG)
1413G→A
7640G>A
7640G>A
1413G>A
insG at 1526
1525insG
E473X
E473X
codon 473 (GAG→TAG)
E473X
7656delG
E477X
E477X
codon 477 (GAA→TAA)
codon 477 (GAA→TAA)
codon 477 (GAA→TAA)
1539insG
1539insG
codon 482 (GGC→GC)
1555insG
1555insG
1560del13
1560del13
1567_1568del2
493fs 65aaX CCG→GG
1583insC
1583insC
1593insC
1593insC
1593insC
1606del29
1607delA
1607delA
Mutation
a
c.1497delA
c.1497delA
c.1505A>T
c.1509_1533del25
c.1522C>T
c.1522_1523insC
c.1522_1523insC
c.1525_1526insC
c.1526delG
c.1526delG
c.1529_1530delCA
c.1529_1530delCA
c.1540_1541insG
c.1546delC
c.1546delC
c.1546delC
c.1546delC
c.1546delC
c.1546delC
c.1546delC
c.1546delC
c.1546delC
c.1546delC
c.1546delC
c.1546delC
c.1546delC
c.1546delC
c.1546delC
c.1546delC
c.1546delC
c.1546delC
c.1546delC
c.1546delC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
Codon
Predicted
b
Effect
Type
499
499
502
503-511
508
508
508
509
509
509
510
510
514
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
fs
fs
ms, K502M
fs
ns, Q508X
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
G
G
S (NFpit)
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
S (CAR)
G
G
G
G
G
G
S (HPT)
G
G
G
G
G
G
G
G
d
G
G
G
c
24
Reference
Original designation
[Verges et al., 2002]
[Wautot et al., 2002]
[Zhuang et al., 1997b]
[Cebrian et al., 1999]
[Morelli et al., 2000]
[Giraud et al., 1998]
[Wautot et al., 2002]
[Verges et al., 2002]
[Wautot et al., 2002]
[Verges et al., 2002]
[Bartsch et al., 1998]
[Langer et al., 2001]
[Wautot et al., 2002]
[Agarwal et al., 1997]
[Agarwal et al., 1997]
[Bassett et al., 1998]
[Giraud et al., 1998]
[Giraud et al., 1998]
[Cebrian et al., 1999]
[Cupisti et al., 2000]
[Chico et al., 2000]
[Verges et al., 2002]
[Wautot et al., 2002]
[Turner et al., 2002]
[Cavaco et al., 2002]
[Cardinal et al., 2005]
[Cardinal et al., 2005]
[Cardinal et al., 2005]
[Ellard et al., 2005]
[Klein et al., 2005]
[Jager et al., 2006]
[Jager et al., 2006]
[Jager et al., 2006]
[Agarwal et al., 1997]
[Debelenko et al., 1997]
[Giraud et al., 1998]
[Giraud et al., 1998]
[Giraud et al., 1998]
[Giraud et al., 1998]
[Hai et al., 1999]
[Hai et al., 1999]
[Cetani et al., 2000]
[Roijers et al., 2000]
[Bergman et al., 2000a]
[Clerici et al., 2001]
[Verges et al., 2002]
[Verges et al., 2002]
[Verges et al., 2002]
[Wautot et al., 2002]
[Turner et al., 2002]
[Warner et al., 2004]
[Cardinal et al., 2005]
[Cardinal et al., 2005]
1607delA
1607delA
K502M
7736del25
Q508X
1630insC
1630insC
1635insC
1636delG
1636delG
510fs 19aaX GCA→G
1639-1640delCA
1650insG
1650delC
1650delC
codon 516 (delC)
1650delC
1650delC
7770delC
codon 514 (delC)
1650delC
1650delC
1650delC
7773delC
1656delC
1546-1547delC
1546-1547delC
1546-1547delC
1656delC
codon 514 (delC)
f
1657delC
f
1657delC
f
1657delC
1650insC
1650insC
1650insC
1650insC
1650insC
1650insC
1650insC
1650insC
1650insC
insC at 1657
7773insC
7766insC
1650insC
1650insC
1650insC
1650insC
7773insC
1546-1547insC
1546-1547insC
1546-1547insC
Codon
Predicted
b
Effect
Type
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1546_1547insC
c.1547_1548insC
c.1547_1548insC
c.1547_1548insC
c.1547_1548insC
c.1547_1548insC
c.1547_1548insC
c.1547_1548insC
c.1547_1548insC
c.1547_1548insC
n/a
n/a
c.1548delG
c.1548_1549insG
c.1548_1549insG
c.1556delC
c.1557_1558insT
c.1557_1558insT
c.1558_1559insT
c.1579C>T
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
516
517
517
519
520
520
520
527
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
fs
ns, R527X
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
S (HPT)
G
G
G
G
d
G
G
G
G
G
G
G
G
c.1579C>T
c.1579C>T
c.1579C>T
c.1579C>T
c.1579C>T
c.1579C>T
c.1579C>T
c.1579C>T
c.1579C>T
c.1579C>T
c.1579C>T
c.1579C>T
c.1579C>T
c.1579C>T
c.1579C>T
c.1588G>A
c.1590delA
c.1590delA
c.1590_1592delAGGinsGC
c.1592G>C
c.1594G>T
527
527
527
527
527
527
527
527
527
527
527
527
527
527
527
530
530
530
530-531
530
532
ns, R527X
ns, R527X
ns, R527X
ns, R527X
ns, R527X
ns, R527X
ns, R527X
ns, R527X
ns, R527X
ns, R527X
ns, R527X
ns, R527X
ns, R527X
ns, R527X
ns, R527X
ms, E530K
fs
fs
fs
ms, G531A
ms, G532C
G
G
G
G
G
G
G
G
G
d
G
G
G
G
G
G
S (PRL)
G
G
G
G
G
Mutation
a
c
25
Reference
Original designation
[Cardinal et al., 2005]
[Ellard et al., 2005]
[Klein et al., 2005]
[Klein et al., 2005]
[Klein et al., 2005]
[Jap et al., 2005]
[Jap et al., 2005]
[Jap et al., 2005]
[Jager et al., 2006]
[Jager et al., 2006]
[Jager et al., 2006]
[Jager et al., 2006]
[Jager et al., 2006]
[Teh et al., 1998a]
[Teh et al., 1998a]
[Sakurai et al., 1998]
[Sakurai et al., 1998]
[Sakurai et al., 1998]
[Nord et al., 2000]
[Uchino et al., 2000]
[Kytola et al., 2001]
[Crepin et al., 2003]
[Bassett et al., 1998]
[Bassett et al., 1998]
[Villablanca et al., 2002]
[Cardinal et al., 2005]
[Cardinal et al., 2005]
[Poncin et al., 1999]
[Hai et al., 1999]
[Cardinal et al., 2005]
[Uchino et al., 2000]
[Chandrasekharappa et
al., 1997]
[Agarwal et al., 1997]
[Bassett et al., 1998]
[Teh et al., 1998a]
[Giraud et al., 1998]
[Giraud et al., 1998]
[Mutch et al., 1999]
[Mutch et al., 1999]
[Kytola et al., 2001]
[Kytola et al., 2001]
[Perrier et al., 2002]
[Wautot et al., 2002]
[Verges et al., 2002]
[Lairmore et al., 2004]
[Cardinal et al., 2005]
[Ellard et al., 2005]
[Wrocklage et al., 2002]
[Debelenko et al., 1997]
[Wautot et al., 2002]
[Cardinal et al., 2005]
[Debelenko et al., 1997]
[Wautot et al., 2002]
1546-1547insC
1656-1657insC
codon 514 (CCC→CCCC)
codon 516 (CGG→CCGG)
codon 516 (CGG→CCGG)
1650insC
1650insC
1650insC
f
1657insC
f
1657insC
f
1657insC
f
1657insC
f
1657insC
1657insC
1657insC
1657insC
1657insC
1657insC
1657insC
1657insC
1657insC
1657insC
codon 516 (insC)
codon 516 (insC)
1658delG
1548-1549insG
1548-1549insG
1666delC
1667insT
1556-1557insT
1668insT
R527X
R527X
R527X
R527X
R527X
R527X
1579C→T
1579C→T
R527X
R527X
R527X
R527X
R527X
1579C>T
1579C→T
R527X
E530K
1699delA
1700delA
1590delA, 1592G→C
1702G→C
G532C
Mutation
a
c.1594G>T
c.1602_1618dup17
Codon
Predicted
b
Effect
532
ms, G532C
534-540 fs
c.1602_1630del29
534-544
c.1603_1631del29
535-544
c.1604C>T
535
c.1606C>T
536
c.1606C>T
536
c.1606C>T
536
c.1606C>T
536
c.1607delA
536
c.1609delG
537
c.1618C>T
540
c.1618C>T
540
c.1623_1652del30
541-551
c.1628C>G
543
c.1628C>T
543
c.1628C>T
543
c.1630C>T
544
c.1654A>T
552
c.1658delT
553
c.1658delT
553
c.1658delT
553
c.1658delT
553
c.1658delT
553
c.1658delT
553
c.1660C>T
554
c.1660C>T
554
c.1661_1668dupAGAGTGAG 554-556
c.1663_1664delAG
555
c.1664G>A
555
c.1664G>A
555
c.1664G>A
555
n/a
555
n/a
555
c.1666G>T
556
c.1667delA
556
e
556
c.1668_1669ins8
c.1669A>G
557
c.1670_1672delAGA
557-558
c.1670_1672delAGA
557-558
c.1670_1672delAGA
557-558
c.1670_1672delAGA
557-558
c.1670_1672delAGA
557-558
c.1672delA
558
c.1672delA
558
c.1673T>A
558
c.1675A>T
559
c.1675_1676insG
559
c.1676delA
559
c.1676delA
559
c.1682T>C
561
c.1683delG
561
c.1687G>T
563
fs
fs
ms, A535V
ns, Q536X
ns, Q536X
ns, Q536X
ns, Q536X
fs
fs
ms, P540S
ms, P540S
if
ns, S543X
ms, S543L
ms, S543L
ms, P544S
ms, T552S
fs
fs
fs
fs
fs
fs
ns, Q554X
ns, Q554X
fs
fs
ms, S555N
ms, S555N
ms, S555N
ms, S555R
ms, S555R
ms, E556X
fs
fs
ms, K557E
if
if
if
if
if
fs
fs
ms, M558K
ns, K559X
fs
fs
fs
ms, M561T
fs
ns, E563X
Type
c
Reference
Original designation
G
G
[Verges et al., 2002]
[Klein et al., 2005]
G
G
S (INS)
G
G
G
S (HPT)
G
G
G
G
S (GAS)
S (HPT)
S (GAS)
S (GAS)
G
S (ADR)
G
G
S (HPT)
G
G
G
G
G
G
G
G
G
G
G
G
G
S (GH/PRL)
G
G
G
G
G
G
G
G
G
G
G
G
G
d
G
S (HPT)
G
G
[Crepin et al., 2003]
[Wautot et al., 2002]
[Zhuang et al., 1997a]
[Giraud et al., 1998]
[Verges et al., 2002]
[Wautot et al., 2002]
[Scarpellil et al., 2004]
[Hai et al., 1999]
[Klein et al., 2005]
[Crepin et al., 2003]
[Crepin et al., 2003]
[Goebel et al., 2000]
[Uchino et al., 2000]
[Zhuang et al., 1997a]
[Goebel et al., 2000]
[Roijers et al., 2000]
[Schulte et al., 1999]
[Giraud et al., 1998]
[Giraud et al., 1998]
[Uchino et al., 2000]
[Wautot et al., 2002]
[Verges et al., 2002]
[Crepin et al., 2003]
[Kopp et al., 2001]
[Langer et al., 2001]
[Roijers et al., 2000]
[Klein et al., 2005]
[Giraud et al., 1998]
[Wautot et al., 2002]
[Tso et al., 2003]
[Wautot et al., 2002]
[Verges et al., 2002]
[Jap et al., 2005]
[Tanaka et al., 1998a]
[Wautot et al., 2002]
[Ozturk et al., 2006]
[Giraud et al., 1998]
[Verges et al., 2002]
[Wautot et al., 2002]
[Cebrian et al., 2003]
[Klein et al., 2005]
[Giraud et al., 1998]
[Wautot et al., 2002]
[Ellard et al., 2005]
[Tso et al., 2003]
[Mutch et al., 1999]
[Asteria et al., 2001]
[Cetani et al., 2002]
[Heppner et al., 1997]
[Snabboon et al., 2005b]
[Klein et al., 2005]
G532C
codon 540 (dup
GGCTCAGGTGCCAGCAC)
1712del29
1713del29
A535V
Q536X
Q536X
Q536X
Q536X
1717delA
26
codon 536 (CAG→CA)
1728C>T
1728C>T
1733del30
S543X
S543L
S543L
1740C→T
T552S
1768delT
1768delT
1767delT
1768delT
1768delT
1768delT
Q554X
1770C→T
1771dupAGAGTGAG
codon 554 (delAG)
S555N
S555N
S555N
S555R
S555R
E556X (GAG →TAG)
codon 556 (delA)
1778ins8
K557E (AAG→GAG)
1780delAGA
1780delAGA
1780delAGA
1780del3
codon 557 (delAAG)
1782delA
1782delA
M558K
K559X
1675insG
c.1785delA
1785delA
M561T
1793delG
codon 563 (GAG→TAG)
Mutation
a
c.1688_1690delAGCinsT
c.1688_1694delAGCTGCT
insTGCTG
c.1701delC
c.1702_1706delACCAA
c.1704delC
c.1714_1715delCT
c.1736T>C
c.1736T>C
c.1736T>C
c.1739C>G
c.1750C>T
Gross deletion
Gross deletion
Gross deletion
Gross deletion
Gross deletion
Gross deletion
Gross deletion
Gross deletion
Gross deletion
Gross deletion
Codon
Predicted
b
Effect
Type
c
Reference
Original designation
563-564 fs
563-565 fs
G
G
[Bergman et al., 2000a]
[Cardinal et al., 2005]
7916AGC→T
1688A→T, 1693-1694delCT
567
568-569
568
572
579
579
579
580
584
G
S (HPT)
S (HPT)
G
G
G
G
S (HPT)
S (HPT)
[Cardinal et al., 2005]
[Heppner et al., 1997]
[Dwight et al., 2000]
[Hai et al., 1999]
[Jager et al., 2006]
[Jager et al., 2006]
[Jager et al., 2006]
[Dwight et al., 2000]
[Karges et al., 2000]
1701delC
1812del5 (ACCAA)
1814delC
1823delCT
G
G
G
G
G
d
G
G
G
G
G
[Kishi et al., 1998]
[Bergman et al., 2000a]
[Cavaco et al., 2002]
[Cavaco et al., 2002]
[Cebrian et al., 2003]
[Cebrian et al., 2003]
[Lairmore et al., 2004]
[Kikuchi et al., 2004]
[Cardinal et al., 2005]
[Fukuuchi et al., 2006]
7kb deletion
partial gene deletion
del[exon7-3’UTR]
del[5’(D11S4946-exon9]
gross deletion
gross deletion
7kb deletion (5’-exon2)
68kb deletion
deletion exon1-2
29kb deletion
fs
fs
fs
fs
ms, L579P
ms, L579P
ms, L579P
ms, T580R
ns, Q584X
a
1846T→C
1846T→C
1846T→C
1849C→G
Q584X
Mutations are numbered in relation to the MEN1 cDNA reference sequence (GenBank accession number NM_130799.1),
whereby nucleotide +1 corresponds to the A of the ATG-translation initiation codon.
b
Predicted effect: fs, frameshift mutation; ns, nonsense mutation; ms, missense mutation; if, in-frame deletion or insertion;
sp, splice site mutation; RT, experimentally confirmed by RT-PCR.
c
Mutation type: G, germline; S, somatic; HPT, parathyroid tumour; GAS, gastrinoma; INS, insulinoma; VIP, VIPoma; GLU,
glucagonoma; SST, somatostatinoma; NFpanc, non-functioning pancreatic tumour; PRL, prolactinoma; GH,
somatotrophinoma; ACTH, corticotrophinoma; FSH/LH, gonadotrophinoma; TSH, thyrotrophinoma; NFpit, non-functioning
pituitary tumour; CAR, carcinoid tumour; ADR, adrenocortical tumour; ANG, angiofibroma; LIP, lipoma; Epend,
Ependymoma; Mel, melanoma; LCNEC, large cell neuroendocrine carcinoma.
d
Familial isolated primary hyperparathyroidism (FIHP).
e
Sequence of inserted nucleotides was not presented in the original report.
f
Discordant codon/nucleotide number in the original report.
n/a, exact nucleotide change not available in the original report.
27
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