|
The FBN1 mutations database |
|
File
|
AA Position
|
Exon number
|
WT codon
|
Mutant codon
|
Mutational event
|
CpG
|
Transition Transversion
|
Structure
|
Sample ID
|
Mutation name
|
Nomenclature_AA
|
Reference number
|
|
649
|
17
|
1
|
TTA
|
del1c
|
Stop at 34
|
|
Fr.
|
Signal peptide
|
FRA01BOU F351 I1266
|
c.51delA
|
p.Leu17fsX17
|
64
|
|
436
|
42
|
1
|
GCC
|
del1a
|
Stop at 107
|
|
Fr.
|
NH2 unique region
|
BEL01GHE F63 I1656
|
c.124delG
|
p.Ala42ProfsX65
|
89
|
|
556
|
55
|
1-2
|
GGA
|
del83c
|
Stop at 100
|
|
Fr.
|
NH2 unique region
|
BEL01GHE F16 I2089
|
c.165_247del
|
p.Gly55fsX45
|
89
|
|
609
|
55
|
1-2
|
GGA
|
spl-1
|
G->A
|
|
Ts
|
NH2 unique region
|
GER03HAN F21 I01
|
c.IVS1-1G>A
|
|
107
|
|
510
|
62
|
2
|
CGT
|
TGT
|
C->T
|
Yes
|
Ts
|
NH2 unique region
|
FRA01BOU F98 I616
|
c.184C>T
|
p.Arg62Cys
|
64
|
|
447
|
62
|
2
|
CGT
|
TGT
|
C->T
|
Yes
|
Ts
|
NH2 unique region
|
GER01BER F23 I46
|
c.184C>T
|
p.Arg62Cys
|
95
|
|
446
|
62
|
2
|
CGT
|
TGT
|
C->T
|
Yes
|
Ts
|
NH2 unique region
|
GER01BER F22 I55
|
c.184C>T
|
p.Arg62Cys
|
95
|
|
445
|
62
|
2
|
CGT
|
TGT
|
C->T
|
Yes
|
Ts
|
NH2 unique region
|
GER01BER F21 I15
|
c.184C>T
|
p.Arg62Cys
|
95
|
|
532
|
62
|
2
|
CGT
|
TGT
|
C->T
|
Yes
|
Ts
|
NH2 unique region
|
USA04NOR F01 I1095
|
c.184C>T
|
p.Arg62Cys
|
101
|
|
578
|
83
|
2-3
|
CCC
|
spl+1
|
G->A
|
|
Ts
|
|
USA03STA F66 I1075
|
c.IVS2+1G>A
|
|
104
|
|
527
|
83
|
2-3
|
CCC
|
spl+1
|
G->A
|
|
Ts
|
|
USA05HOU F15 I01
|
c.IVS2+1G>A
|
|
99
|
|
319
|
83
|
2-3
|
CCC
|
spl+1
|
G->A
|
|
Ts
|
|
JPN02YON F03 I01
|
c.IVS2+1G>A
|
|
79
|
|
287
|
83
|
2-3
|
CCC
|
spl+1
|
G->A
|
|
Ts
|
|
UKD04OXF F01 I01
|
c.IVS2+1G>A
|
|
58
|
|
10
|
83
|
2-3
|
CCC
|
spl+1
|
G->A
|
|
Ts
|
|
USA01BAL F10 I08
|
c.IVS2+1G>A
|
|
4
|
|
441
|
83
|
2-3
|
CCC
|
spl-3
|
C->G
|
|
Tv
|
|
BEL01GHE F67 I1314
|
c.IVS2-3C>G
|
|
89
|
|
314
|
83
|
2-3
|
CCC
|
spl-7
|
T->G
|
|
Tv
|
|
AUS01NAD F10 I10
|
c.IVS2-7T>G
|
|
71
|
|
402
|
89
|
3
|
TGT
|
TTT
|
G->T
|
No
|
Tv
|
|
BEL01GHE F37 I1941
|
c.266G>T
|
p.Cys89Phe
|
89
|
|
153
|
101
|
3
|
ACT
|
GCT
|
A->G
|
No
|
Ts
|
|
FRA01BOU F47 I251
|
c.301A>G
|
p.Thr101Ala
|
64
|
|
111
|
111
|
3
|
TGT
|
CGT
|
T->C
|
No
|
Tv
|
|
UKD01EDI F05 I01
|
c.331T>C
|
p.Cys111Arg
|
41
|
|
448
|
115
|
3
|
TCC
|
TGC
|
C->G
|
No
|
Tv
|
EGF-like #02
|
GER01BER F24 I10
|
c.344C>G
|
p.Ser115Cys
|
95
|
|
612
|
122
|
4
|
CGC
|
TGC
|
C->T
|
Yes
|
Ts
|
EGF-like #02
|
UKD05LON F14 I01
|
c.364C>T
|
p.Arg122Cys
|
108
|
|
416
|
122
|
4
|
CGC
|
TGC
|
C->T
|
Yes
|
Ts
|
EGF-like #02
|
BEL01GHE F51I2903
|
c.364C>T
|
p.Arg122Cys
|
89
|
|
411
|
122
|
4
|
CGC
|
TGC
|
C->T
|
Yes
|
Ts
|
EGF-like #02
|
BEL01GHE F46 I916
|
c.364C>T
|
p.Arg122Cys
|
89
|
|
37
|
122
|
4
|
CGC
|
TGC
|
C->T
|
Yes
|
Ts
|
EGF-like #02
|
FIN01HEL F14 I01
|
c.364C>T
|
p.Arg122Cys
|
18
|
|
85
|
122
|
4
|
CGC
|
TGC
|
C->T
|
Yes
|
Ts
|
EGF-like #02
|
UKD03DUN F01 I01
|
c.364C>T
|
p.Arg122Cys
|
37
|
|
40
|
129
|
4
|
TGC
|
TAC
|
G->A
|
No
|
Ts
|
EGF-like #02
|
USA01BAL F13 I01
|
c.386G>A
|
p.Cys129Tyr
|
21
|
|
437
|
130
|
4
|
AGT
|
del1c
|
Stop at 141
|
|
Fr.
|
EGF-like #02
|
BEL01GHE F64 I1548
|
c.390delT
|
p.Ser130ArgfsX11
|
89
|
|
480
|
160
|
5
|
TGT
|
GGT
|
T->G
|
No
|
Tv
|
EGF-like #03
|
FRA01BOU F20 I81
|
c.478T>G
|
p.Cys160Gly
|
64
|
|
613
|
164
|
5
|
AAT
|
AGT
|
A->G
|
No
|
Ts
|
EGF-like #03
|
UKD05LON F15 I01
|
c.491A>G
|
p.Asn164Ser
|
108
|
|
307
|
166
|
5
|
TGT
|
AGT
|
T->A
|
No
|
Tv
|
EGF-like #03
|
AUS01NAD F11 I29
|
c.496T>A
|
p.Cys166Ser
|
71
|
|
63
|
166
|
5
|
TGT
|
TCT
|
G->C
|
No
|
Tv
|
EGF-like #03
|
USA06SEA F02 I01
|
c.497G>C
|
p.Cys166Ser
|
25
|
|
41
|
166
|
5
|
TGT
|
TTT
|
G->T
|
No
|
Tv
|
EGF-like #03
|
USA01BAL F14 I01
|
c.497G>T
|
p.Cys166Phe
|
21
|
|
492
|
176
|
5
|
CAG
|
del1a
|
Stop at 189
|
|
Fr.
|
EGF-like #03
|
FRA01BOU F137 I842
|
c.526delC
|
p.Gln176SerfsX13
|
64
|
|
224
|
176
|
5
|
CAG
|
TAG
|
C->T
|
No
|
Ts
|
EGF-like #03
|
USA03STA F12 I01
|
c.526C>T
|
p.Gln176X
|
54
|
|
469
|
208
|
6
|
CTC
|
ins1c
|
Ins
|
|
Fr.
|
EGF-like #01
|
GER01BER F25 I30
|
c.624insT
|
p.Leu208delinsLeufsX14
|
95
|
|
354
|
212
|
6
|
ACA
|
del2b
|
Stop at 221
|
|
Fr.
|
EGF-like #01
|
FRA01BOU F123 I599
|
c.635_636delCA
|
p.Thr212SerfsX9
|
64
|
|
155
|
214
|
6
|
GGC
|
AGC
|
G->A
|
Yes
|
Ts
|
EGF-like #01
|
FRA01BOU F86 I452
|
c.640G>A
|
p.Gly214Ser
|
64
|
|
294
|
215
|
6
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
EGF-like #01
|
JPN01OSA F01 I01
|
c.643C>T
|
p.Arg215X
|
55
|
|
20
|
217
|
6
|
TGG
|
GGG
|
T->G
|
No
|
Tv
|
EGF-like #01
|
FIN01HEL F06 I01
|
c.649T>G
|
p.Trp217Gly
|
10
|
|
579
|
219
|
6
|
CAC
|
del1b
|
Stop at 329
|
|
Fr.
|
EGF-like #01
|
USA03STA F67 I807
|
c.656delA
|
p.His219ProfsX110
|
104
|
|
614
|
240
|
6
|
CGC
|
TGC
|
C->T
|
Yes
|
Ts
|
EGF-like #01
|
UKD05LON F16 I01
|
c.718C>T
|
p.Arg240Cys
|
108
|
|
533
|
240
|
6
|
CGC
|
TGC
|
C->T
|
Yes
|
Ts
|
EGF-like #01
|
USA04NOR F02 I1333
|
c.718C>T
|
p.Arg240Cys
|
101
|
|
133
|
240
|
6
|
CGC
|
TGC
|
C->T
|
Yes
|
Ts
|
EGF-like #01
|
BEL01GHE F07 I01
|
c.718C>T
|
p.Arg240Cys
|
89
|
|
195
|
246
|
6-7
|
GAT
|
spl-1
|
G->A
|
|
Ts
|
cb EGF-like #01
|
FRA01BOU F63 I353
|
c.IVS6-1G>A
|
|
64
|
|
580
|
249
|
7
|
GAA
|
TAA
|
G->T
|
No
|
Tv
|
cb EGF-like #01
|
USA03STA F68 I860
|
c.745G>T
|
p.Glu249X
|
104
|
|
225
|
252
|
7
|
GCC
|
del8b
|
Stop at 261
|
|
Fr.
|
cb EGF-like #01
|
USA03STA F13 I01
|
c.755_762del
|
p.Ala252GlyfsX9
|
54
|
|
284
|
311
|
8
|
TAC
|
ins1c
|
Ins
|
|
Fr.
|
cb EGF-like #02
|
UKD04OXF F02 I02
|
c.933insT
|
p.Tyr311delinsTyrfsX36
|
58
|
|
432
|
320
|
8
|
TAC
|
ins1c
|
Ins
|
|
Fr.
|
cb EGF-like #02
|
BEL01GHE F59 I2203
|
c.960insA
|
p.Tyr320delinsStopfsX0
|
89
|
|
549
|
326
|
8
|
ACC
|
del1a
|
Stop at 329
|
|
Fr.
|
cb EGF-like #02
|
USA04NOR F12 I3524
|
c.976delA
|
p.Thr326ProfsX3
|
102
|
|
484
|
364
|
9
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
8-Cys #01
|
FRA01BOU F179 I928
|
c.1090C>T
|
p.Arg364X
|
64
|
|
342
|
364
|
9
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
8-Cys #01
|
UKD03DUN F09 I01
|
c.1090C>T
|
p.Arg364X
|
84
|
|
417
|
366
|
9
|
TGG
|
TGT
|
G->T
|
No
|
Tv
|
8-Cys #01
|
BEL01GHE F52 I3372
|
c.1098G>T
|
p.Trp366Cys
|
89
|
|
430
|
383
|
9-10
|
GAG
|
AAG
|
G->A
|
Yes
|
Ts
|
8-Cys #01
|
BEL01GHE F57 I2164
|
c.1147G>A
|
p.Glu383Lys
|
89
|
|
597
|
429
|
10
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
Proline
|
GER03HAN F11 I02
|
c.1285C>T
|
p.Arg429X
|
107
|
|
300
|
429
|
10
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
Proline
|
FRA01BOU F167 I727
|
c.1285C>T
|
p.Arg429X
|
63
|
|
156
|
429
|
10
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
Proline
|
FRA01BOU F71 I409
|
c.1285C>T
|
p.Arg429X
|
63
|
|
226
|
434
|
10
|
TAT
|
TAG
|
T->G
|
No
|
Tv
|
Proline
|
USA03STA F14 I01
|
c.1302T>G
|
p.Tyr434X
|
54
|
|
600
|
449
|
11
|
GTT
|
ATT
|
G->A
|
Yes
|
Ts
|
EGF-like #04
|
GER03HAN F13 I03
|
c.1345G>A
|
p.Val449Ile
|
107
|
|
182
|
458
|
11
|
TAT
|
TCT
|
A->C
|
No
|
Tv
|
EGF-like #04
|
FRA01BOU F26 I54
|
c.1373A>C
|
p.Tyr458Ser
|
64
|
|
306
|
460
|
11
|
TGT
|
ins1b
|
Ins
|
|
Fr.
|
EGF-like #04
|
AUS01NAD F12 I34
|
c.1379insT
|
p.Cys460delinsLeufsX15
|
71
|
|
128
|
474
|
11
|
TGT
|
del48b
|
In frame del
|
|
InF
|
EGF-like #04
|
FIN01HEL F20 I01
|
c.1421_1468del
|
p.Cys474_Ile489delinsTyr
|
68
|
|
364
|
474
|
11
|
TGT
|
TGG
|
T->G
|
No
|
Tv
|
EGF-like #04
|
UKD05LON F01 I07
|
c.1422T>G
|
p.Cys474Trp
|
83
|
|
317
|
474
|
11
|
TGT
|
TTT
|
G->T
|
No
|
Tv
|
EGF-like #04
|
JPN02YON F01 I01
|
c.1421G>T
|
p.Cys474Phe
|
79
|
|
26
|
476
|
11
|
TGC
|
GGC
|
T->G
|
No
|
Tv
|
EGF-like #04
|
USA01BAL F12 I01
|
c.1426T>G
|
p.Cys476Gly
|
11
|
|
623
|
478
|
11
|
AAA
|
TAA
|
A->T
|
No
|
Tv
|
EGF-like #04
|
FRA01BOU F264 I1255
|
c.1432A>T
|
p.Lys478X
|
64
|
|
656
|
479
|
11
|
GGG
|
ins1a
|
Ins
|
|
Fr.
|
EGF-like #04
|
FRA01BOU F447 I1549
|
c.1435insA
|
p.Lys478_Gly479delinsGlyfsX11
|
64
|
|
526
|
490
|
11-12
|
GAT
|
spl+2
|
T->C
|
|
Tv
|
cb EGF-like #03
|
BEL01GHE F79 I01
|
c.IVS11+2T>C
|
|
98
|
|
662
|
490
|
11-12
|
GAT
|
spl+4
|
C->T
|
|
Ts
|
cb EGF-like #03
|
FRA01BOU F365 I1322
|
c.IVS11+4C>T
|
|
64
|
|
227
|
490
|
11-12
|
GAT
|
spl+5
|
G->A
|
|
Ts
|
cb EGF-like #03
|
USA03STA F15 I01
|
c.IVS11+5G>A
|
|
54
|
|
157
|
490
|
11-12
|
GAT
|
TAT
|
G->T
|
No
|
Tv
|
cb EGF-like #03
|
UKD01EDI F18 I01
|
c.1468G>T
|
p.Asp490Tyr
|
51
|
|
343
|
497
|
12
|
AAC
|
AAG
|
C->G
|
No
|
Tv
|
cb EGF-like #03
|
UKD03DUN F10 I01
|
c.1491C>G
|
p.Asn497Lys
|
84
|
|
268
|
499
|
12
|
TGT
|
CGT
|
T->C
|
No
|
Ts
|
cb EGF-like #03
|
USA03STA F50 I09
|
c.1495T>C
|
p.Cys499Arg
|
57
|
|
199
|
504
|
12
|
TGT
|
TTT
|
G->T
|
No
|
Tv
|
cb EGF-like #03
|
GER03HAN F09 I01
|
c.1511G>T
|
p.Cys504Phe
|
66
|
|
344
|
515
|
12
|
TGC
|
CGC
|
T->C
|
No
|
Ts
|
cb EGF-like #03
|
UKD03DUN F11 I01
|
c.1543T>C
|
p.Cys515Arg
|
84
|
|
657
|
516
|
12
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
cb EGF-like #03
|
FRA01BOU F171 I752
|
c.1546C>T
|
p.Arg516X
|
64
|
|
638
|
524
|
12
|
ACG
|
ins1b
|
Ins
|
|
Fr.
|
cb EGF-like #03
|
FRA01BOU F186 I787
|
c.1571insA
|
p.Thr524delinsAsnfsX8
|
64
|
|
209
|
529
|
12
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
cb EGF-like #03
|
USA01BAL F30 I01
|
c.1585C>T
|
p.Arg529X
|
60
|
|
189
|
530
|
12-13
|
GAC
|
spl+21
|
G->A
|
|
Ts
|
cb EGF-like #04
|
GER02MUN F02 I01
|
c.IVS12+21G>A
|
|
53
|
|
646
|
534
|
13
|
TGT
|
CGT
|
T->C
|
No
|
Ts
|
cb EGF-like #04
|
FRA01BOU F316 I1305
|
c.1600T>C
|
p.Cys534Arg
|
64
|
|
302
|
534
|
13
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #04
|
USA09FAR F01 I01
|
c.1601G>A
|
p.Cys534Tyr
|
69
|
|
51
|
535
|
13
|
TTA
|
del1b
|
Stop at 578
|
|
Fr.
|
cb EGF-like #04
|
USA01BAL F15 I01
|
c.1604delT
|
p.Leu535TyrfsX43
|
21
|
|
616
|
545
|
13
|
CGC
|
TGC
|
C->T
|
Yes
|
Ts
|
cb EGF-like #04
|
UKD05LON F18 I01
|
c.1633C>T
|
p.Arg545Cys
|
108
|
|
615
|
545
|
13
|
CGC
|
TGC
|
C->T
|
Yes
|
Ts
|
cb EGF-like #04
|
UKD05LON F17 I01
|
c.1633C>T
|
p.Arg545Cys
|
108
|
|
559
|
545
|
13
|
CGC
|
TGC
|
C->T
|
Yes
|
Ts
|
cb EGF-like #04
|
USA04NOR F13 I3675
|
c.1633C>T
|
p.Arg545Cys
|
102
|
|
228
|
545
|
13
|
CGC
|
TGC
|
C->T
|
Yes
|
Ts
|
cb EGF-like #04
|
USA03STA F16 I01
|
c.1633C>T
|
p.Arg545Cys
|
54
|
|
112
|
545
|
13
|
CGC
|
TGC
|
C->T
|
Yes
|
Ts
|
cb EGF-like #04
|
UKD01EDI F06 I01
|
c.1633C>T
|
p.Arg545Cys
|
41
|
|
135
|
545
|
13
|
CGC
|
TGC
|
C->T
|
Yes
|
Ts
|
cb EGF-like #04
|
BEL01GHE F05 I01
|
c.1633C>T
|
p.Arg545Cys
|
89
|
|
370
|
546
|
13
|
TGC
|
TGG
|
C->G
|
No
|
Tv
|
cb EGF-like #04
|
UKD05LON F07 I10
|
c.1638C>G
|
p.Cys546Trp
|
97
|
|
6
|
548
|
13
|
AAC
|
ATC
|
A->T
|
No
|
Tv
|
cb EGF-like #04
|
USA01BAL F07 I09
|
c.1643A>T
|
p.Asn548Ile
|
4
|
|
485
|
557
|
13
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #04
|
FRA01BOU F88 I461
|
c.1670G>A
|
p.Cys557Tyr
|
64
|
|
414
|
560
|
13
|
GGC
|
AGC
|
G->A
|
No
|
Ts
|
cb EGF-like #04
|
BEL01GHE F49 I1115
|
c.1678G>A
|
p.Gly560Ser
|
89
|
|
516
|
565
|
13
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
cb EGF-like #04
|
USA01BAL F33 I28
|
c.1693C>T
|
p.Arg565X
|
81
|
|
74
|
565
|
13
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
cb EGF-like #04
|
USA07POR F01 I03
|
c.1693C>T
|
p.Arg565X
|
30
|
|
275
|
570
|
13
|
TGT
|
CGT
|
T->C
|
No
|
Ts
|
cb EGF-like #04
|
USA03STA F51 I21
|
c.1708T>C
|
p.Cys570Arg
|
57
|
|
655
|
570
|
13
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #04
|
FRA01BOU F308 I1174
|
c.1709G>A
|
p.Cys570Tyr
|
64
|
|
384
|
570
|
13
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #04
|
BEL01GHE F19 I2264
|
c.1709G>A
|
p.Cys570Tyr
|
89
|
|
534
|
571
|
13
|
GAA
|
TAA
|
G->T
|
No
|
Tv
|
cb EGF-like #04
|
USA04NOR F03 I1650
|
c.1711G>T
|
p.Glu571X
|
101
|
|
449
|
587
|
14
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #05
|
GER01BER F26 I03
|
c.1760G>A
|
p.Cys587Tyr
|
95
|
|
76
|
587
|
14
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #05
|
GER01BER F01 I03
|
c.1760G>A
|
p.Cys587Tyr
|
31
|
|
382
|
592
|
14
|
GGC
|
GAC
|
G->A
|
No
|
Ts
|
cb EGF-like #05
|
BEL01GHE F14 I2359
|
c.1775G>A
|
p.Gly592Asp
|
89
|
|
450
|
596
|
14
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #05
|
GER01BER F27 I01
|
c.1787G>A
|
p.Cys596Tyr
|
95
|
|
134
|
598
|
14
|
TGC
|
TGG
|
C->G
|
No
|
Tv
|
cb EGF-like #05
|
BEL01GHE F06 I01
|
c.1794C>G
|
p.Cys598Trp
|
89
|
|
102
|
612
|
14
|
AAA
|
del1c
|
Stop at 624
|
|
Fr.
|
cb EGF-like #05
|
BRA01SPA F01 I01
|
c.1836delA
|
p.Lys612fsX12
|
39
|
|
315
|
613
|
14-15
|
GAC
|
spl+5
|
G->A
|
|
Ts
|
cb EGF-like #06
|
AUS01NAD F13 I29
|
c.IVS14+5G>A
|
|
71
|
|
431
|
615
|
15
|
AAC
|
del3a
|
In frame del
|
|
InF
|
cb EGF-like #06
|
BEL01GHE F58 I472
|
c.1843_1845delAAC
|
p.Asn615del
|
89
|
|
229
|
616
|
15
|
GAG
|
GGG
|
A->G
|
No
|
Ts
|
cb EGF-like #06
|
USA03STA F17 I01
|
c.1847A>G
|
p.Glu616Gly
|
54
|
|
158
|
624
|
15
|
ATG
|
ATA
|
G->A
|
No
|
Ts
|
cb EGF-like #06
|
AUT01VIE F01 I01
|
c.1872G>A
|
p.Met624Ile
|
47
|
|
210
|
625
|
15
|
AAT
|
AAC
|
T->C
|
No
|
Ts
|
cb EGF-like #06
|
USA08PIT F01 I01
|
c.1875T>C
|
p.Asn625Asn
|
49
|
|
564
|
627
|
15
|
CGT
|
TGT
|
C->T
|
Yes
|
Ts
|
cb EGF-like #06
|
UKD04OXF F09 I07
|
c.1879C>T
|
p.Arg627Cys
|
88
|
|
12
|
627
|
15
|
CGT
|
TGT
|
C->T
|
Yes
|
Ts
|
cb EGF-like #06
|
UKD01EDI F01 I50
|
c.1879C>T
|
p.Arg627Cys
|
7
|
|
75
|
627
|
15
|
CGT
|
TGT
|
C->T
|
Yes
|
Ts
|
cb EGF-like #06
|
USA07POR F02 I03
|
c.1879C>T
|
p.Arg627Cys
|
30
|
|
581
|
628
|
15
|
TGC
|
TGA
|
C->A
|
No
|
Tv
|
cb EGF-like #06
|
USA03STA F69 I969
|
c.1884C>A
|
p.Cys628X
|
104
|
|
617
|
634
|
15
|
TCC
|
CCC
|
T->C
|
No
|
Ts
|
cb EGF-like #06
|
UKD05LON F19 I01
|
c.1900T>C
|
p.Ser634Pro
|
108
|
|
599
|
635
|
15
|
TAC
|
del16b
|
Stop at 712
|
|
Fr.
|
cb EGF-like #06
|
GER03HAN F12 I05
|
c.1904_1919del
|
p.Tyr635SerfsX77
|
107
|
|
644
|
635
|
15
|
TAC
|
TGC
|
A->G
|
No
|
Ts
|
cb EGF-like #06
|
FRA01BOU F341 I1232
|
c.1904A>G
|
p.Tyr635Cys
|
64
|
|
159
|
636
|
15
|
AGA
|
ATA
|
G->T
|
No
|
Tv
|
cb EGF-like #06
|
AUT01VIE F02 I01
|
c.1907G>T
|
p.Arg636Ile
|
47
|
|
272
|
637
|
15
|
TGT
|
CGT
|
T->C
|
No
|
Ts
|
cb EGF-like #06
|
USA03STA F52 I16
|
c.1909T>C
|
p.Cys637Arg
|
57
|
|
618
|
652
|
15
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #06
|
UKD05LON F20 I01
|
c.1955G>A
|
p.Cys652Tyr
|
108
|
|
565
|
654
|
15-16
|
GAC
|
AAC
|
G->A
|
No
|
Ts
|
|
UKD04OXF F10 I33
|
c.1960G>A
|
p.Asp654Asn
|
88
|
|
451
|
654
|
15-16
|
GAC
|
AAC
|
G->A
|
No
|
Ts
|
|
GER01BER F28 I26
|
c.1960G>A
|
p.Asp654Asn
|
95
|
|
504
|
657
|
16
|
ATG
|
del2a
|
Stop at 679
|
|
Fr.
|
8-Cys #02
|
FRA01BOU F138 I587
|
c.1969_1970delAT
|
p.Met657AlafsX22
|
64
|
|
56
|
661
|
16
|
TGC
|
CGC
|
T->C
|
No
|
Tv
|
8-Cys #02
|
USA06SEA F01I01
|
c.1981T>C
|
p.Cys661Arg
|
22
|
|
456
|
661
|
16
|
TGC
|
TAC
|
G->A
|
No
|
Ts
|
8-Cys #02
|
GER01BER F29 I62
|
c.1982G>A
|
p.Cys661Tyr
|
95
|
|
454
|
681
|
16
|
TCT
|
TAT
|
C->A
|
No
|
Tv
|
8-Cys #02
|
GER01BER F30 I31
|
c.2042C>A
|
p.Ser681Tyr
|
95
|
|
455
|
683
|
16
|
TGC
|
AGC
|
T->A
|
No
|
Tv
|
8-Cys #02
|
GER01BER F31 I59
|
c.2047T>A
|
p.Cys683Ser
|
95
|
|
453
|
685
|
16
|
TGC
|
TGG
|
C->G
|
No
|
Tv
|
8-Cys #02
|
GER01BER F33 I19
|
c.2055C>G
|
p.Cys685Trp
|
95
|
|
452
|
685
|
16
|
TGC
|
TGG
|
C->G
|
No
|
Tv
|
8-Cys #02
|
GER01BER F32 I09
|
c.2055C>G
|
p.Cys685Trp
|
95
|
|
626
|
686
|
16
|
GCC
|
GAC
|
C->A
|
No
|
Tv
|
8-Cys #02
|
FRA01BOU F184 I780
|
c.2057C>A
|
p.Ala686Asp
|
64
|
|
87
|
705
|
16-17
|
GCG
|
ACG
|
G->A
|
No
|
Ts
|
8-Cys #02
|
AUS01NAD F01 I03
|
c.2113G>A
|
p.Ala705Thr
|
36
|
|
439
|
705
|
16-17
|
GCG
|
spl-1
|
G->C
|
|
Tv
|
8-Cys #02
|
BEL01GHE F65 I795
|
c.IVS16-1G>C
|
|
89
|
|
86
|
711
|
17
|
TGC
|
TAC
|
G->A
|
No
|
Ts
|
8-Cys #02
|
AUS01NAD F02 I02
|
c.2132G>A
|
p.Cys711Tyr
|
36
|
|
8
|
723
|
17-18
|
GAT
|
GCT
|
A->C
|
No
|
Tv
|
cb EGF-like #07
|
USA01BAL F08 I10
|
c.2168A>C
|
p.Asp723Ala
|
4
|
|
458
|
723
|
17-18
|
GAT
|
GTT
|
A->T
|
No
|
Tv
|
cb EGF-like #07
|
GER01BER F34 I18
|
c.2168A>T
|
p.Asp723Val
|
95
|
|
571
|
723
|
17-18
|
GAT
|
spl-1
|
G->A
|
|
Ts
|
cb EGF-like #07
|
UKD04OXF F16 I36
|
c.IVS17-1G>A
|
|
88
|
|
475
|
723
|
17-18
|
GAT
|
spl-2
|
A->G
|
|
Ts
|
cb EGF-like #07
|
GER01BER F35 I02
|
c.IVS17-2A>G
|
|
95
|
|
459
|
734
|
18
|
TGC
|
TTC
|
G->T
|
No
|
Tv
|
cb EGF-like #07
|
GER01BER F36 I65
|
c.2201G>T
|
p.Cys734Phe
|
95
|
|
42
|
746
|
18
|
TAT
|
TGT
|
A->G
|
No
|
Tv
|
cb EGF-like #07
|
USA01BAL F16 I01
|
c.2237A>G
|
p.Tyr746Cys
|
21
|
|
566
|
748
|
18
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #07
|
UKD04OXF F11 I40
|
c.2243G>A
|
p.Cys748Tyr
|
88
|
|
457
|
748
|
18
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #07
|
GER01BER F37 I40
|
c.2243G>A
|
p.Cys748Tyr
|
95
|
|
363
|
748
|
18
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #07
|
UKD03DUN F12 I01
|
c.2243G>A
|
p.Cys748Tyr
|
84
|
|
658
|
750
|
18
|
TGC
|
AGC
|
T->A
|
No
|
Tv
|
cb EGF-like #07
|
FRA01BOU F362 I1296
|
c.2248T>A
|
p.Cys750Ser
|
64
|
|
13
|
750
|
18
|
TGC
|
GGC
|
T->G
|
No
|
Tv
|
cb EGF-like #07
|
UKD01EDI F02 I39
|
c.2248T>G
|
p.Cys750Gly
|
7
|
|
529
|
751
|
18
|
AAT
|
del7a
|
Stop at 769
|
|
Fr.
|
cb EGF-like #07
|
KOR01SEO F02 I01
|
c.2251_2257del
|
p.Asn751AspfsX18
|
100
|
|
90
|
765
|
18-19
|
GAT
|
spl+2
|
T->C
|
|
Tv
|
cb EGF-like #08
|
USA03STA F05 I835
|
c.IVS18+2T>C
|
|
28
|
|
316
|
765
|
18-19
|
GAT
|
spl-1
|
G->A
|
|
Ts
|
cb EGF-like #08
|
AUS01NAD F14 I13
|
c.IVS18-1G>A
|
|
71
|
|
190
|
765
|
18-19
|
GAT
|
spl-1
|
G->C
|
|
Tv
|
cb EGF-like #08
|
AUS01NAD F05 I01
|
c.IVS18-1G>C
|
|
40
|
|
461
|
776
|
19
|
TGT
|
GGT
|
T->G
|
No
|
Tv
|
cb EGF-like #08
|
GER01BER F38 I37
|
c.2326T>G
|
p.Cys776Gly
|
95
|
|
403
|
776
|
19
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #08
|
BEL01GHE F38 I1790
|
c.2327G>A
|
p.Cys776Tyr
|
89
|
|
460
|
781
|
19
|
TGT
|
CGT
|
T->C
|
No
|
Ts
|
cb EGF-like #08
|
GER01BER F39 I51
|
c.2341T>C
|
p.Cys781Arg
|
95
|
|
405
|
781
|
19
|
TGT
|
CGT
|
T->C
|
No
|
Ts
|
cb EGF-like #08
|
BEL01GHE F40 I1663
|
c.2341T>C
|
p.Cys781Arg
|
89
|
|
395
|
781
|
19
|
TGT
|
CGT
|
T->C
|
No
|
Ts
|
cb EGF-like #08
|
BEL01GHE F30 I2178
|
c.2341T>C
|
p.Cys781Arg
|
89
|
|
230
|
800
|
19
|
CCT
|
del1b
|
Stop at 802
|
|
Fr.
|
cb EGF-like #08
|
USA03STA F18 I01
|
c.2399delC
|
p.Pro800LeufsX2
|
54
|
|
422
|
804
|
19
|
ACA
|
del2c
|
Stop at 805
|
|
Fr.
|
cb EGF-like #08
|
ITA01FLO F04 I07
|
c.2412_2413delAT
|
p.Thr804fsX1
|
93
|
|
211
|
804
|
19
|
ACA
|
del2c
|
Stop at 805
|
|
Fr.
|
cb EGF-like #08
|
USA08PIT F02 I01
|
c.2412_2413delAT
|
p.Thr804fsX1
|
49
|
|
295
|
813
|
20
|
TCA
|
TGA
|
C->G
|
No
|
Tv
|
cb EGF-like #09
|
JPN01OSA F02 I01
|
c.2438C>G
|
p.Ser813X
|
55
|
|
105
|
816
|
20
|
TGC
|
TCC
|
G->C
|
No
|
Tv
|
cb EGF-like #09
|
AUS01NAD F06 I01
|
c.2447G>C
|
p.Cys816Ser
|
40
|
|
231
|
832
|
20
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #09
|
USA03STA F19 I20
|
c.2495G>A
|
p.Cys832Tyr
|
54
|
|
572
|
847
|
20-21
|
GAA
|
spl+1
|
G->A
|
|
Ts
|
Hybrid motif #02
|
UKD04OXF F17 I21
|
c.IVS20+1G>A
|
|
88
|
|
213
|
847
|
20-21
|
GAA
|
spl+53
|
T->A
|
|
Tv
|
Hybrid motif #02
|
USA08PIT F03 I01
|
c.IVS20+53T>A
|
|
49
|
|
628
|
853
|
21
|
TGC
|
del1a
|
Stop at 871
|
|
Fr.
|
Hybrid motif #02
|
FRA01BOU F348 I1258
|
c.2557delT
|
p.Cys853AlafsX18
|
64
|
|
633
|
855
|
21
|
CAG
|
TAG
|
C->T
|
No
|
Ts
|
Hybrid motif #02
|
FRA01BOU F501 I1695
|
c.2563C>T
|
p.Gln855X
|
64
|
|
297
|
857
|
21
|
GTC
|
ins1c
|
Ins
|
|
Fr.
|
Hybrid motif #02
|
JPN01OSA F03 I01
|
c.2571insT
|
p.Val857delinsValfsX2
|
55
|
|
582
|
861
|
21
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
Hybrid motif #02
|
USA03STA F70 I993
|
c.2581C>T
|
p.Arg861X
|
104
|
|
462
|
861
|
21
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
Hybrid motif #02
|
GER01BER F40 I60
|
c.2581C>T
|
p.Arg861X
|
95
|
|
232
|
861
|
21
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
Hybrid motif #02
|
USA03STA F20 I01
|
c.2581C>T
|
p.Arg861X
|
54
|
|
27
|
862
|
21
|
TGT
|
CGT
|
T->C
|
No
|
Tv
|
Hybrid motif #02
|
USA03STA F01 I827
|
c.2584T>C
|
p.Cys862Arg
|
12
|
|
434
|
863
|
21
|
GAG
|
ins1a
|
Ins
|
|
Fr.
|
Hybrid motif #02
|
BEL01GHE F61 I2034
|
c.2587insT
|
p.Cys862_Glu863delinsGlufsX0
|
89
|
|
642
|
867
|
21
|
AAT
|
AGT
|
A->G
|
No
|
Ts
|
Hybrid motif #02
|
FRA01BOU F393 I1415
|
c.2600A>G
|
p.Asn867Ser
|
64
|
|
496
|
875
|
21
|
TGC
|
CGC
|
T->C
|
No
|
Ts
|
Hybrid motif #02
|
FRA01BOU F104 I489
|
c.2623T>C
|
p.Cys875Arg
|
64
|
|
601
|
880
|
21
|
GGT
|
AGT
|
G->A
|
Yes
|
Ts
|
Hybrid motif #02
|
GER03HAN F10 I06
|
c.2638G>A
|
p.Gly880Ser
|
107
|
|
648
|
882
|
21
|
GCG
|
GTG
|
C->T
|
Yes
|
Ts
|
Hybrid motif #02
|
FRA01BOU F504 I1638
|
c.2645C>T
|
p.Ala882Val
|
64
|
|
497
|
882
|
21
|
GCG
|
GTG
|
C->T
|
Yes
|
Ts
|
Hybrid motif #02
|
FRA01BOU F130 I621
|
c.2645C>T
|
p.Ala882Val
|
64
|
|
507
|
890
|
21
|
TGC
|
CGC
|
T->C
|
No
|
Ts
|
Hybrid motif #02
|
FRA01BOU F419 I1432
|
c.2668T>C
|
p.Cys890Arg
|
64
|
|
124
|
890
|
21
|
TGC
|
CGC
|
T->C
|
No
|
Tv
|
Hybrid motif #02
|
FIN01HEL F17 I01
|
c.2668T>C
|
p.Cys890Arg
|
45
|
|
438
|
893
|
21-22
|
GAT
|
AAT
|
G->A
|
No
|
Ts
|
Hybrid motif #02
|
BEL01GHE F28 I2090
|
c.2677G>A
|
p.Asp893Asn
|
89
|
|
358
|
896
|
22
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
Hybrid motif #02
|
FRA01BOU F95 I516
|
c.2687G>A
|
p.Cys896Tyr
|
64
|
|
463
|
908
|
22
|
TGT
|
CGT
|
T->C
|
No
|
Ts
|
Hybrid motif #02
|
GER01BER F41 I07
|
c.2722T>C
|
p.Cys908Arg
|
95
|
|
653
|
910
|
22-23
|
GAT
|
AAT
|
G->A
|
No
|
Ts
|
cb EGF-like #10
|
FRA01BOU F456 I849
|
c.2728G>A
|
p.Asp910Asn
|
64
|
|
349
|
910
|
22-23
|
GAT
|
spl+1
|
G->A
|
|
Ts
|
cb EGF-like #10
|
UKD03DUN F13 I01
|
c.IVS22+1G>A
|
|
84
|
|
429
|
913
|
23
|
GAA
|
GGA
|
A->G
|
No
|
Ts
|
cb EGF-like #10
|
BEL01GHE F56 I4278
|
c.2738A>G
|
p.Glu913Gly
|
89
|
|
464
|
921
|
23
|
TGT
|
GGT
|
T->G
|
No
|
Tv
|
cb EGF-like #10
|
GER01BER F42 I62
|
c.2761T>G
|
p.Cys921Gly
|
95
|
|
43
|
926
|
23
|
TGT
|
CGT
|
T->C
|
No
|
Tv
|
cb EGF-like #10
|
USA01BAL F17 I01
|
c.2776T>C
|
p.Cys926Arg
|
21
|
|
318
|
940
|
23
|
GGA
|
del4c
|
Stop at 959
|
|
Fr.
|
cb EGF-like #10
|
JPN02YON F02 I01
|
c.2820_2823delAATG
|
p.Gly940fsX19
|
79
|
|
150
|
984
|
24
|
GTC
|
ATC
|
G->A
|
Yes
|
Ts
|
8-Cys #03
|
GER02MUN F01 I01
|
c.2950G>A
|
p.Val984Ile
|
32
|
|
409
|
985
|
24
|
GGG
|
AGG
|
G->A
|
Yes
|
Ts
|
8-Cys #03
|
BEL01GHE F44 I1318
|
c.2953G>A
|
p.Gly985Arg
|
89
|
|
160
|
985
|
24
|
GGG
|
GAG
|
G->A
|
No
|
Ts
|
8-Cys #03
|
FRA01BOU F48 I307
|
c.2954G>A
|
p.Gly985Glu
|
62
|
|
634
|
989
|
24
|
GGT
|
del1b
|
Stop at 998
|
|
Fr.
|
8-Cys #03
|
FRA01BOU F411 I1170
|
c.2966delG
|
p.Gly989ValfsX9
|
64
|
|
168
|
994
|
24
|
GAG
|
TAG
|
G->T
|
No
|
Tv
|
8-Cys #03
|
FIN01HEL F18 I02
|
c.2980G>T
|
p.Glu994X
|
48
|
|
84
|
996
|
24
|
TGT
|
CGT
|
T->C
|
No
|
Tv
|
8-Cys #03
|
UKD03DUN F03 I01
|
c.2986T>C
|
p.Cys996Arg
|
67
|
|
214
|
998
|
24
|
ATG
|
GTG
|
A->G
|
No
|
Ts
|
8-Cys #03
|
USA08PIT F04 I01
|
c.2992A>G
|
p.Met998Val
|
49
|
|
426
|
1013
|
24
|
GGA
|
AGA
|
G->A
|
Yes
|
Ts
|
8-Cys #03
|
CHI01HKO F01 I01
|
c.3037G>A
|
p.Gly1013Arg
|
94
|
|
404
|
1013
|
24
|
GGA
|
AGA
|
G->A
|
Yes
|
Ts
|
8-Cys #03
|
BEL01GHE F39 I1826
|
c.3037G>A
|
p.Gly1013Arg
|
89
|
|
341
|
1013
|
24
|
GGA
|
AGA
|
G->A
|
Yes
|
Ts
|
8-Cys #03
|
GER01BER F04 I60
|
c.3037G>A
|
p.Gly1013Arg
|
80
|
|
331
|
1013
|
24
|
GGA
|
AGA
|
G->A
|
Yes
|
Ts
|
8-Cys #03
|
GER01BER F03 I15
|
c.3037G>A
|
p.Gly1013Arg
|
80
|
|
233
|
1013
|
24
|
GGA
|
AGA
|
G->A
|
Yes
|
Ts
|
8-Cys #03
|
USA03STA F21 I01
|
c.3037G>A
|
p.Gly1013Arg
|
54
|
|
44
|
1013
|
24
|
GGA
|
AGA
|
G->A
|
Yes
|
Ts
|
8-Cys #03
|
USA01BAL F18 I01
|
c.3037G>A
|
p.Gly1013Arg
|
21
|
|
104
|
1013
|
24
|
GGA
|
CGA
|
G->C
|
No
|
Tv
|
8-Cys #03
|
AUS01NAD F25 I01
|
c.3037G>C
|
p.Gly1013Arg
|
77
|
|
335
|
1020
|
24
|
ACA
|
GCA
|
A->G
|
No
|
Ts
|
|
GER01BER F05 I47
|
c.3058A>G
|
p.Thr1020Ala
|
80
|
|
18
|
1023
|
24
|
AAG
|
AAC
|
G->C
|
No
|
Tv
|
|
FIN01HEL F04 I01
|
c.3069G>C
|
p.Lys1023Asn
|
10
|
|
427
|
1028
|
24-25
|
GAT
|
GTT
|
A->T
|
No
|
Tv
|
cb EGF-like #11
|
CHI01HKO F02 I01
|
c.3083A>T
|
p.Asp1028Val
|
94
|
|
340
|
1028
|
24-25
|
GAT
|
spl+1
|
G->T
|
|
Tv
|
cb EGF-like #11
|
GER01BER F06 I54
|
c.IVS24+1G>T
|
|
80
|
|
19
|
1028
|
24-25
|
GAT
|
spl+5
|
G->T
|
|
Tv
|
cb EGF-like #11
|
FIN01HEL F05 I01
|
c.IVS24+5G>T
|
|
10
|
|
141
|
1032
|
25
|
TGC
|
TAC
|
G->A
|
No
|
Ts
|
cb EGF-like #11
|
UKD03DUN F02 I01
|
c.3095G>A
|
p.Cys1032Tyr
|
46
|
|
234
|
1039
|
25
|
TGC
|
TAC
|
G->A
|
No
|
Ts
|
cb EGF-like #11
|
USA03STA F22 I08
|
c.3116G>A
|
p.Cys1039Tyr
|
54
|
|
81
|
1043
|
25
|
AAG
|
AGG
|
A->G
|
No
|
Tv
|
cb EGF-like #11
|
USA02OMA F04 I324
|
c.3128A>G
|
p.Lys1043Arg
|
35
|
|
303
|
1044
|
25
|
TGC
|
TAC
|
G->A
|
No
|
Ts
|
cb EGF-like #11
|
AUS01NAD F15 I01
|
c.3131G>A
|
p.Cys1044Tyr
|
71
|
|
629
|
1048
|
25
|
ATT
|
ACT
|
T->C
|
No
|
Ts
|
cb EGF-like #11
|
FRA01BOU F150 I1719
|
c.3143T>C
|
p.Ile1048Thr
|
64
|
|
620
|
1048
|
25
|
ATT
|
ACT
|
T->C
|
No
|
Ts
|
cb EGF-like #11
|
USA10NYO F01 I01
|
c.3143T>C
|
p.Ile1048Thr
|
105
|
|
506
|
1048
|
25
|
ATT
|
ACT
|
T->C
|
No
|
Ts
|
cb EGF-like #11
|
FRA01BOU F454 I1586
|
c.3143T>C
|
p.Ile1048Thr
|
64
|
|
291
|
1048
|
25
|
ATT
|
ACT
|
T->C
|
No
|
Ts
|
cb EGF-like #11
|
NEL01UTR F01 I01
|
c.3143T>C
|
p.Ile1048Thr
|
65
|
|
78
|
1048
|
25
|
ATT
|
ACT
|
T->C
|
No
|
Tv
|
cb EGF-like #11
|
FIN01HEL F15 I01
|
c.3143T>C
|
p.Ile1048Thr
|
33
|
|
67
|
1048
|
25
|
ATT
|
del3a
|
In frame del
|
|
InF
|
cb EGF-like #11
|
USA05HOU F07 I251
|
c.3142_3144delATT
|
p.Ile1048del
|
26
|
|
505
|
1053
|
25
|
TGC
|
CGC
|
T->C
|
No
|
Ts
|
cb EGF-like #11
|
FRA01BOU F435 I1513
|
c.3157T>C
|
p.Cys1053Arg
|
64
|
|
66
|
1053
|
25
|
TGC
|
CGC
|
T->C
|
No
|
Tv
|
cb EGF-like #11
|
USA05HOU F08 I92
|
c.3157T>C
|
p.Cys1053Arg
|
26
|
|
89
|
1055
|
25
|
TGT
|
GGT
|
T->G
|
No
|
Tv
|
cb EGF-like #11
|
AUS01NAD F03 I05
|
c.3163T>G
|
p.Cys1055Gly
|
36
|
|
398
|
1055
|
25
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #11
|
BEL01GHE F33 I2112
|
c.3164G>A
|
p.Cys1055Tyr
|
89
|
|
399
|
1055
|
25
|
TGT
|
TGG
|
T->G
|
No
|
Tv
|
cb EGF-like #11
|
BEL01GHE F34 I2115
|
c.3165T>G
|
p.Cys1055Trp
|
89
|
|
33
|
1059
|
25
|
TTT
|
ins3a
|
Ins
|
|
Fr.
|
cb EGF-like #11
|
USA05HOU F01 I01
|
c.3175insTGC
|
p.Gly1058_Phe1059insCys
|
15
|
|
82
|
1064
|
25
|
GAA
|
del1c
|
Stop at 1087
|
|
Fr.
|
cb EGF-like #11
|
USA02OMA F05 I554
|
c.3192delA
|
p.Glu1064fsX23
|
35
|
|
355
|
1070
|
25-26
|
GAC
|
GGC
|
A->G
|
No
|
Ts
|
cb EGF-like #12
|
FRA01BOU F257 I863
|
c.3209A>G
|
p.Asp1070Gly
|
64
|
|
561
|
1071
|
26
|
ATT
|
AGT
|
T->G
|
No
|
Tv
|
cb EGF-like #12
|
USA02OMA F07 I01
|
c.3212T>G
|
p.Ile1071Ser
|
38
|
|
64
|
1072
|
26
|
GAC
|
GGC
|
A->G
|
No
|
Tv
|
cb EGF-like #12
|
USA05HOU F09 I182
|
c.3215A>G
|
p.Asp1072Gly
|
26
|
|
45
|
1073
|
26
|
GAA
|
AAA
|
G->A
|
Yes
|
Ts
|
cb EGF-like #12
|
USA01BAL F19 I01
|
c.3217G>A
|
p.Glu1073Lys
|
21
|
|
68
|
1073
|
26
|
GAA
|
AAA
|
G->A
|
Yes
|
Ts
|
cb EGF-like #12
|
USA05HOU F11 I249
|
c.3217G>A
|
p.Glu1073Lys
|
26
|
|
69
|
1073
|
26
|
GAA
|
AAA
|
G->A
|
Yes
|
Ts
|
cb EGF-like #12
|
USA05HOU F010 I269
|
c.3217G>A
|
p.Glu1073Lys
|
26
|
|
352
|
1073
|
26
|
GAA
|
GAT
|
A->T
|
No
|
Tv
|
cb EGF-like #12
|
USA02OMA F08 I01
|
c.3219A>T
|
p.Glu1073Asp
|
38
|
|
176
|
1074
|
26
|
TGC
|
CGC
|
T->C
|
No
|
Ts
|
cb EGF-like #12
|
UKD01EDI F07 I01
|
c.3220T>C
|
p.Cys1074Arg
|
41
|
|
17
|
1074
|
26
|
TGC
|
CGC
|
T->C
|
No
|
Tv
|
cb EGF-like #12
|
FIN01HEL F03 I01
|
c.3220T>C
|
p.Cys1074Arg
|
10
|
|
611
|
1074
|
26
|
TGC
|
TAC
|
G->A
|
No
|
Ts
|
cb EGF-like #12
|
UKD05LON F23 I01
|
c.3221G>A
|
p.Cys1074Tyr
|
109
|
|
235
|
1077
|
26
|
TCT
|
CCT
|
T->C
|
No
|
Ts
|
cb EGF-like #12
|
USA03STA F23 I01
|
c.3229T>C
|
p.Ser1077Pro
|
54
|
|
554
|
1078
|
26
|
CCT
|
ins5b
|
Ins
|
|
Fr.
|
cb EGF-like #12
|
USA08PIT F05 I01
|
c.3233insATCTC
|
p.Pro1078delinsHisfsX11
|
49
|
|
500
|
1080
|
26
|
CTC
|
del1a
|
Stop at 1087
|
|
Fr.
|
cb EGF-like #12
|
FRA01BOU F158 I724
|
c.3238delC
|
p.Leu1080SerfsX7
|
64
|
|
163
|
1081
|
26
|
TGT
|
GGT
|
T->G
|
No
|
Tv
|
cb EGF-like #12
|
FRA01BOU F46 I309
|
c.3241T>G
|
p.Cys1081Gly
|
64
|
|
269
|
1086
|
26
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #12
|
USA03STA F53 I14
|
c.3257G>A
|
p.Cys1086Tyr
|
57
|
|
329
|
1098
|
26
|
GAC
|
GAT
|
C->T
|
Yes
|
Ts
|
cb EGF-like #12
|
AUS01NAD F16 I109
|
c.3294C>T
|
p.Asp1098Asp
|
71
|
|
215
|
1098
|
26
|
GAC
|
GAT
|
C->T
|
Yes
|
Ts
|
cb EGF-like #12
|
USA08PIT F06 I01
|
c.3294C>T
|
p.Asp1098Asp
|
49
|
|
359
|
1098
|
26
|
GAC
|
GAT
|
C->T
|
Yes
|
Ts
|
cb EGF-like #12
|
FRA01BOU F19 I136
|
c.3294C>T
|
p.Asp1098Asp
|
110
|
|
602
|
1101
|
26
|
TAT
|
TGT
|
A->G
|
No
|
Ts
|
cb EGF-like #12
|
GER03HAN F14 I07
|
c.3302A>G
|
p.Tyr1101Cys
|
107
|
|
419
|
1101
|
26
|
TAT
|
TGT
|
A->G
|
No
|
Ts
|
cb EGF-like #12
|
BEL01GHE F54 I877
|
c.3302A>G
|
p.Tyr1101Cys
|
89
|
|
236
|
1113
|
26-27
|
GAT
|
GGT
|
A->G
|
No
|
Ts
|
cb EGF-like #13
|
USA03STA F24 I01
|
c.3338A>G
|
p.Asp1113Gly
|
54
|
|
333
|
1115
|
27
|
GAT
|
GGT
|
A->G
|
No
|
Ts
|
cb EGF-like #13
|
GER01BER F07 I27
|
c.3344A>G
|
p.Asp1115Gly
|
80
|
|
65
|
1117
|
27
|
TGT
|
CGT
|
T->C
|
No
|
Tv
|
cb EGF-like #13
|
USA05HOU F012 I250
|
c.3349T>C
|
p.Cys1117Arg
|
26
|
|
28
|
1117
|
27
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #13
|
USA03STA F02 I783
|
c.3350G>A
|
p.Cys1117Tyr
|
12
|
|
106
|
1117
|
27
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #13
|
AUS01NAD F07 I01
|
c.3350G>A
|
p.Cys1117Tyr
|
40
|
|
583
|
1119
|
27
|
AGA
|
del4a
|
Stop at 1160
|
|
Fr.
|
cb EGF-like #13
|
USA03STA F71 I1103
|
c.3355_3358delAGAG
|
p.Arg1119IlefsX41
|
104
|
|
547
|
1125
|
27
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
cb EGF-like #13
|
USA04NOR F14 I3599
|
c.3373C>T
|
p.Arg1125X
|
102
|
|
361
|
1127
|
27
|
GGT
|
AGT
|
G->A
|
No
|
Ts
|
cb EGF-like #13
|
USA03STA F63 I01
|
c.3379G>A
|
p.Gly1127Ser
|
78
|
|
400
|
1128
|
27
|
GTT
|
ATT
|
G->A
|
No
|
Ts
|
cb EGF-like #13
|
BEL01GHE F35 I2254
|
c.3382G>A
|
p.Val1128Ile
|
89
|
|
200
|
1129
|
27
|
TGC
|
TAC
|
G->A
|
No
|
Ts
|
cb EGF-like #13
|
GER03HAN F08 I01
|
c.3386G>A
|
p.Cys1129Tyr
|
66
|
|
661
|
1130
|
27
|
CAT
|
del1a
|
Stop at 1161
|
|
Fr.
|
cb EGF-like #13
|
FRA01BOU F369 I1353
|
c.3388delC
|
p.His1130IlefsX31
|
64
|
|
83
|
1131
|
27
|
AAC
|
TAC
|
A->T
|
No
|
Tv
|
cb EGF-like #13
|
USA02OMA F06 I498
|
c.3391A>T
|
p.Asn1131Tyr
|
35
|
|
1
|
1137
|
27
|
CGC
|
CCC
|
G->C
|
No
|
Tv
|
cb EGF-like #13
|
USA01BAL F01 I01
|
c.3410G>C
|
p.Arg1137Pro
|
1
|
|
2
|
1137
|
27
|
CGC
|
CCC
|
G->C
|
No
|
Tv
|
cb EGF-like #13
|
USA01BAL F02 I01
|
c.3410G>C
|
p.Arg1137Pro
|
1
|
|
503
|
1138
|
27
|
TGT
|
CGT
|
T->C
|
No
|
Ts
|
cb EGF-like #13
|
FRA01BOU F160 I712
|
c.3412T>C
|
p.Cys1138Arg
|
64
|
|
651
|
1138
|
27
|
TGT
|
GGT
|
T->G
|
No
|
Tv
|
cb EGF-like #13
|
FRA01BOU F139 I592
|
c.3412T>G
|
p.Cys1138Gly
|
64
|
|
170
|
1141
|
27
|
CCG
|
CTG
|
C->T
|
Yes
|
Ts
|
cb EGF-like #13
|
USA08PIT F07 I01
|
c.3422C>T
|
p.Pro1141Leu
|
49
|
|
237
|
1149
|
27
|
AAC
|
ins1a
|
Ins
|
|
Fr.
|
cb EGF-like #13
|
USA03STA F25 I01
|
c.3445insC
|
p.Pro1148_Asn1149delinsAsnfsX9
|
54
|
|
88
|
1153
|
27
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #13
|
AUS01NAD F04 I04
|
c.3458G>A
|
p.Cys1153Tyr
|
36
|
|
79
|
1155
|
27-28
|
GAC
|
AAC
|
G->A
|
Yes
|
Ts
|
cb EGF-like #14
|
USA05HOU F13 I62
|
c.3463G>A
|
p.Asp1155Asn
|
34
|
|
29
|
1155
|
27-28
|
GAC
|
del17b
|
Stop at 1186
|
|
Fr.
|
cb EGF-like #14
|
USA03STA F03 I773
|
c.3464_3480del
|
p.Asp1155AlafsX31
|
12
|
|
192
|
1155
|
27-28
|
GAC
|
spl+1
|
G->A
|
|
Ts
|
cb EGF-like #14
|
FIN01HEL F19 I01
|
c.IVS27+1G>A
|
|
48
|
|
502
|
1155
|
27-28
|
GAC
|
spl-1
|
G->A
|
|
Ts
|
cb EGF-like #14
|
FRA01BOU F90 I462
|
c.IVS27-1G>A
|
|
64
|
|
97
|
1166
|
28
|
TGC
|
TAC
|
G->A
|
No
|
Ts
|
cb EGF-like #14
|
BRA01SPA F02 I01
|
c.3497G>A
|
p.Cys1166Tyr
|
39
|
|
639
|
1168
|
28
|
AAT
|
AGT
|
A->G
|
No
|
Ts
|
cb EGF-like #14
|
FRA01BOU F301 I1623
|
c.3503A>G
|
p.Asn1168Ser
|
64
|
|
198
|
1170
|
28
|
CGT
|
CAT
|
G->A
|
Yes
|
Ts
|
cb EGF-like #14
|
USA01BAL F31 I01
|
c.3509G>A
|
p.Arg1170His
|
60
|
|
58
|
1170
|
28
|
CGT
|
CAT
|
G->A
|
Yes
|
Ts
|
cb EGF-like #14
|
UKD01EDI F04 I01
|
c.3509G>A
|
p.Arg1170His
|
23
|
|
142
|
1170
|
28
|
CGT
|
CAT
|
G->A
|
Yes
|
Ts
|
cb EGF-like #14
|
UKD03DUN F04 I01
|
c.3509G>A
|
p.Arg1170His
|
70
|
|
289
|
1170
|
28
|
CGT
|
GGT
|
C->G
|
No
|
Tv
|
cb EGF-like #14
|
USA08PIT F08 I01
|
c.3508C>G
|
p.Arg1170Gly
|
49
|
|
270
|
1171
|
28
|
TGC
|
CGC
|
T->C
|
No
|
Ts
|
cb EGF-like #14
|
USA03STA F54 I10
|
c.3511T>C
|
p.Cys1171Arg
|
57
|
|
113
|
1171
|
28
|
TGC
|
TGG
|
C->G
|
No
|
Tv
|
cb EGF-like #14
|
UKD01EDI F08 I01
|
c.3513C>G
|
p.Cys1171Trp
|
41
|
|
114
|
1173
|
28
|
AAC
|
AAG
|
C->G
|
No
|
Tv
|
cb EGF-like #14
|
UKD01EDI F09 I01
|
c.3519C>G
|
p.Asn1173Lys
|
41
|
|
147
|
1175
|
28
|
ATA
|
ACA
|
T->C
|
No
|
Tv
|
cb EGF-like #14
|
UKD03DUN F05 I01
|
c.3524T>C
|
p.Ile1175Thr
|
70
|
|
584
|
1176
|
28
|
GGG
|
ins1a
|
Ins
|
|
Fr.
|
cb EGF-like #14
|
USA03STA F72 I857
|
c.3526insA
|
p.Ile1175_Gly1176delinsGlyfsX16
|
104
|
|
632
|
1178
|
28
|
TAT
|
TGT
|
A->G
|
No
|
Ts
|
cb EGF-like #14
|
FRA01BOU F499 I1685
|
c.3533A>G
|
p.Tyr1178Cys
|
64
|
|
650
|
1180
|
28
|
TGT
|
CGT
|
T->C
|
No
|
Ts
|
cb EGF-like #14
|
FRA01BOU F238 I944
|
c.3538T>C
|
p.Cys1180Arg
|
64
|
|
96
|
1182
|
28
|
TGC
|
TCC
|
G->C
|
No
|
Tv
|
cb EGF-like #14
|
BRA01SPA F03 I01
|
c.3545G>C
|
p.Cys1182Ser
|
39
|
|
175
|
1182
|
28
|
TGC
|
TGG
|
C->G
|
No
|
Tv
|
cb EGF-like #14
|
ITA01FLO F01 I03
|
c.3546C>G
|
p.Cys1182Trp
|
50
|
|
177
|
1186
|
28
|
TAC
|
TGC
|
A->G
|
No
|
Ts
|
cb EGF-like #14
|
FRA01BOU F15 I129
|
c.3557A>G
|
p.Tyr1186Cys
|
64
|
|
216
|
1197
|
28-29
|
GAC
|
spl+15
|
del3
|
|
A->C
|
cb EGF-like #15
|
USA08PIT F09 I01
|
c.IVS28+15del3
|
|
49
|
|
125
|
1200
|
29
|
GAA
|
GGA
|
A->G
|
No
|
Tv
|
cb EGF-like #15
|
FIN01HEL F16 I01
|
c.3599A>G
|
p.Glu1200Gly
|
43
|
|
292
|
1201
|
29
|
TGC
|
del66c
|
In frame del
|
|
InF
|
cb EGF-like #15
|
FIN 01HEL F20 I01
|
c.3603_3668del
|
p.Cys1201_Ser1222delinsCys
|
61
|
|
137
|
1208
|
29
|
TGT
|
del1b
|
Stop at 1229
|
|
Fr.
|
cb EGF-like #15
|
BEL01GHE F03 I01
|
c.3623delG
|
p.Cys1208LeufsX21
|
89
|
|
39
|
1223
|
29
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #15
|
UKD02OXF F02 I2521
|
c.3668G>A
|
p.Cys1223Tyr
|
20
|
|
73
|
1223
|
29
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #15
|
USA01BAL F29 I01
|
c.3668G>A
|
p.Cys1223Tyr
|
29
|
|
172
|
1238
|
29-30
|
GAC
|
AAC
|
G->A
|
Yes
|
Ts
|
cb EGF-like #16
|
USA08PIT F10 I01
|
c.3712G>A
|
p.Asp1238Asn
|
49
|
|
334
|
1238
|
29-30
|
GAC
|
GGC
|
A->G
|
No
|
Ts
|
cb EGF-like #16
|
GER01BER F08 I35
|
c.3713A>G
|
p.Asp1238Gly
|
80
|
|
266
|
1242
|
30
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #16
|
USA03STA F55 I02
|
c.3725G>A
|
p.Cys1242Tyr
|
57
|
|
21
|
1242
|
30
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #16
|
FIN01HEL F07 I01
|
c.3725G>A
|
p.Cys1242Tyr
|
10
|
|
3
|
1249
|
30
|
TGT
|
TCT
|
G->C
|
No
|
Tv
|
cb EGF-like #16
|
USA01BAL F03 I04
|
c.3746G>C
|
p.Cys1249Ser
|
2
|
|
664
|
1254
|
30
|
TGC
|
TAC
|
G->A
|
No
|
Ts
|
cb EGF-like #16
|
FRA01BOU F505 I1622
|
c.3761G>A
|
p.Cys1254Tyr
|
111
|
|
528
|
1254
|
30
|
TGC
|
TCC
|
G->C
|
No
|
Tv
|
cb EGF-like #16
|
KOR01SEO F01 I01
|
c.3761G>C
|
p.Cys1254Ser
|
100
|
|
585
|
1256
|
30
|
AAT
|
del1b
|
Stop at 1275
|
|
Fr.
|
cb EGF-like #16
|
USA03STA F73 I1439
|
c.3767delA
|
p.Asn1256IlefsX19
|
104
|
|
238
|
1260
|
30
|
GAG
|
TAG
|
G->T
|
No
|
Tv
|
cb EGF-like #16
|
USA03STA F26 I01
|
c.3778G>T
|
p.Glu1260X
|
54
|
|
201
|
1261
|
30
|
TAC
|
TGC
|
A->G
|
No
|
Ts
|
cb EGF-like #16
|
GER03HAN F07 I01
|
c.3782A>G
|
p.Tyr1261Cys
|
66
|
|
183
|
1265
|
30
|
TGT
|
CGT
|
T->C
|
No
|
Ts
|
cb EGF-like #16
|
USA01BAL F32 I01
|
c.3793T>C
|
p.Cys1265Arg
|
60
|
|
181
|
1266
|
30
|
TAT
|
TTT
|
A->T
|
No
|
Tv
|
cb EGF-like #16
|
FRA01BOU F62 I348
|
c.3797A>T
|
p.Tyr1266Phe
|
64
|
|
197
|
1280
|
30-31
|
GAT
|
spl+1
|
G->A
|
|
Ts
|
cb EGF-like #17
|
GER01BER F02 I775
|
c.IVS30+1G>A
|
|
52
|
|
217
|
1280
|
30-31
|
GAT
|
spl+28
|
C->A
|
|
Tv
|
cb EGF-like #17
|
USA08PIT F11 I01
|
c.IVS30+28C>A
|
|
49
|
|
91
|
1280
|
30-31
|
GAT
|
spl-1
|
G->T
|
|
Tv
|
cb EGF-like #17
|
USA03STA F06 I1121
|
c.IVS30-1G>T
|
|
28
|
|
239
|
1282
|
31
|
AAT
|
AGT
|
A->G
|
No
|
Ts
|
cb EGF-like #17
|
USA03STA F27 I01
|
c.3845A>G
|
p.Asn1282Ser
|
54
|
|
336
|
1300
|
31
|
AAA
|
GAA
|
A->G
|
No
|
Ts
|
cb EGF-like #17
|
GER01BER F09 I01
|
c.3898A>G
|
p.Lys1300Glu
|
80
|
|
631
|
1307
|
31
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #17
|
FRA01BOU F185 I782
|
c.3920G>A
|
p.Cys1307Tyr
|
64
|
|
240
|
1320
|
31
|
TGT
|
AGT
|
T->A
|
No
|
Tv
|
cb EGF-like #17
|
USA03STA F28 I22
|
c.3958T>A
|
p.Cys1320Ser
|
54
|
|
619
|
1321
|
31
|
ACA
|
ACG
|
A->G
|
No
|
Ts
|
cb EGF-like #17
|
UKD05LON F22 I01
|
c.3963A>G
|
p.Thr1321Thr
|
108
|
|
241
|
1321
|
31
|
ACA
|
ACG
|
A->G
|
No
|
Ts
|
cb EGF-like #17
|
USA03STA F29 I01
|
c.3963A>G
|
p.Thr1321Thr
|
54
|
|
350
|
1322
|
31-32
|
GAC
|
spl+1
|
G->C
|
|
Tv
|
cb EGF-like #18
|
UKD03DUN F14 I01
|
c.IVS31+1G>C
|
|
84
|
|
36
|
1322
|
31-32
|
GAC
|
spl+1
|
G->A
|
|
Ts
|
cb EGF-like #18
|
USA02OMA F02I896
|
c.IVS31+1G>A
|
|
17
|
|
35
|
1322
|
31-32
|
GAC
|
spl-2
|
A->T
|
|
Tv
|
cb EGF-like #18
|
USA02OMA F03I497
|
c.IVS31-2A>T
|
|
17
|
|
330
|
1325
|
32
|
GAA
|
TAA
|
G->T
|
No
|
Tv
|
cb EGF-like #18
|
GER01BER F10 I07
|
c.3973G>T
|
p.Glu1325X
|
80
|
|
267
|
1326
|
32
|
TGT
|
CGT
|
T->C
|
No
|
Ts
|
cb EGF-like #18
|
USA03STA F56 I03
|
c.3976T>C
|
p.Cys1326Arg
|
57
|
|
647
|
1332
|
32
|
AAC
|
ins2b
|
Ins
|
|
Fr.
|
cb EGF-like #18
|
FRA01BOU F511 I1713
|
c.3995insCA
|
p.Asn1332delinsThrfsX81
|
64
|
|
151
|
1337
|
32
|
GCT
|
CCT
|
G->C
|
No
|
Tv
|
cb EGF-like #18
|
BEL01GHE F01 I01
|
c.4009G>C
|
p.Ala1337Pro
|
89
|
|
103
|
1337
|
32
|
GCT
|
del1c
|
Stop at 1412
|
|
Fr.
|
cb EGF-like #18
|
BRA01SPA F04 I01
|
c.4011delT
|
p.Ala1337fsX75
|
39
|
|
397
|
1339
|
32
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #18
|
BEL01GHE F32 I2243
|
c.4016G>A
|
p.Cys1339Tyr
|
89
|
|
52
|
1340
|
32
|
ACC
|
del1c
|
Stop at 1412
|
|
Fr.
|
cb EGF-like #18
|
USA01BAL F20 I01
|
c.4020delC
|
p.Thr1340fsX72
|
21
|
|
242
|
1341
|
32
|
AAT
|
AGT
|
A->G
|
No
|
Ts
|
cb EGF-like #18
|
USA03STA F30 I01
|
c.4022A>G
|
p.Asn1341Ser
|
54
|
|
537
|
1348
|
32
|
TGT
|
TGA
|
T->A
|
No
|
Tv
|
cb EGF-like #18
|
USA04NOR F04 I1652
|
c.4044T>A
|
p.Cys1348X
|
101
|
|
276
|
1361
|
32
|
TGC
|
TAC
|
G->A
|
No
|
Ts
|
cb EGF-like #18
|
USA03STA F57 I24
|
c.4082G>A
|
p.Cys1361Tyr
|
57
|
|
493
|
1363
|
32-33
|
GAT
|
spl-2
|
A->G
|
|
Ts
|
cb EGF-like #19
|
FRA01BOU F236 I934
|
c.IVS32-2A>G
|
|
64
|
|
371
|
1366
|
33
|
GAA
|
AAA
|
G->A
|
Yes
|
Ts
|
cb EGF-like #19
|
UKD05LON F08 I36
|
c.4096G>A
|
p.Glu1366Lys
|
97
|
|
660
|
1376
|
33
|
CAG
|
TAG
|
C->T
|
No
|
Ts
|
cb EGF-like #19
|
FRA01BOU F474 I1616
|
c.4126C>T
|
p.Gln1376X
|
64
|
|
46
|
1382
|
33
|
AAT
|
AGT
|
A->G
|
No
|
Tv
|
cb EGF-like #19
|
USA01BAL F21 I01
|
c.4145A>G
|
p.Asn1382Ser
|
21
|
|
304
|
1389
|
33
|
TGT
|
CGT
|
T->C
|
No
|
Ts
|
cb EGF-like #19
|
AUS01NAD F17 I01
|
c.4165T>C
|
p.Cys1389Arg
|
71
|
|
586
|
1393
|
33
|
GAA
|
del1b
|
Stop at 1412
|
|
Fr.
|
cb EGF-like #19
|
USA03STA F74 I751
|
c.4178delA
|
p.Glu1393fsX19
|
104
|
|
308
|
1393
|
33
|
GAA
|
del9c
|
In frame del
|
|
InF
|
cb EGF-like #19
|
AUS01NAD F18 I79
|
c.4179_4187del
|
p.Glu1393_Tyr1395del
|
71
|
|
365
|
1402
|
33
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #19
|
UKD05LON F02 I28
|
c.4205G>A
|
p.Cys1402Tyr
|
83
|
|
277
|
1402
|
33
|
TGT
|
TGG
|
T->G
|
No
|
Tv
|
cb EGF-like #19
|
USA03STA F58 I23
|
c.4206T>G
|
p.Cys1402Trp
|
57
|
|
347
|
1402
|
33
|
TGT
|
TTT
|
G->T
|
No
|
Tv
|
cb EGF-like #19
|
UKD03DUN F15 I01
|
c.4205G>T
|
p.Cys1402Phe
|
84
|
|
551
|
1404
|
33-34
|
GAC
|
spl+2
|
T->C
|
|
Tv
|
cb EGF-like #20
|
USA04NOR F15 I3477
|
c.IVS33+2T>C
|
|
102
|
|
115
|
1404
|
33-34
|
GAC
|
TAC
|
G->T
|
No
|
Tv
|
cb EGF-like #20
|
UKD01EDI F10 I01
|
c.4210G>T
|
p.Asp1404Tyr
|
41
|
|
339
|
1406
|
34
|
GAT
|
GGT
|
A->G
|
No
|
Ts
|
cb EGF-like #20
|
GER01BER F11 I36
|
c.4217A>G
|
p.Asp1406Gly
|
80
|
|
337
|
1408
|
34
|
TGC
|
TTC
|
G->T
|
No
|
Tv
|
cb EGF-like #20
|
GER01BER F12 I13
|
c.4223G>T
|
p.Cys1408Phe
|
80
|
|
487
|
1420
|
34
|
TGC
|
TTC
|
G->T
|
No
|
Tv
|
cb EGF-like #20
|
FRA01BOU F164 I711
|
c.4259G>T
|
p.Cys1420Phe
|
64
|
|
530
|
1421
|
34
|
CTC
|
TTC
|
C->T
|
No
|
Ts
|
cb EGF-like #20
|
KOR01SEO F03 I01
|
c.4261C>T
|
p.Leu1421Phe
|
100
|
|
372
|
1424
|
34
|
CCA
|
GCA
|
C->G
|
No
|
Tv
|
cb EGF-like #20
|
UKD05LON F09 I16
|
c.4270C>G
|
p.Pro1424Ala
|
97
|
|
107
|
1424
|
34
|
CCA
|
GCA
|
C->G
|
No
|
Tv
|
cb EGF-like #20
|
AUS01NAD F08 I01
|
c.4270C>G
|
p.Pro1424Ala
|
40
|
|
130
|
1429
|
34
|
TGT
|
AGT
|
T->A
|
No
|
Tv
|
cb EGF-like #20
|
BEL01GHE F09 I01
|
c.4285T>A
|
p.Cys1429Ser
|
89
|
|
489
|
1446
|
34-35
|
GAT
|
spl+1
|
G->A
|
|
Ts
|
cb EGF-like #21
|
FRA01BOU F29 I794
|
c.IVS34+1G>A
|
|
64
|
|
495
|
1452
|
35
|
CTT
|
del1c
|
Stop at 1474
|
|
Fr.
|
cb EGF-like #21
|
FRA01BOU F145 I741
|
c.4356delT
|
p.Leu1452fsX22
|
64
|
|
285
|
1455
|
35
|
ATC
|
del2c
|
Stop at 1470
|
|
Fr.
|
cb EGF-like #21
|
UKD04OXF F03 I03
|
c.4365_4366delCT
|
p.Ile1455MetfsX15
|
58
|
|
508
|
1470
|
35
|
TGT
|
CGT
|
T->C
|
No
|
Ts
|
cb EGF-like #21
|
FRA01BOU F371 I1357
|
c.4408T>C
|
p.Cys1470Arg
|
64
|
|
244
|
1477
|
35
|
GAA
|
TAA
|
G->T
|
No
|
Tv
|
cb EGF-like #21
|
USA03STA F31 I01
|
c.4429G>T
|
p.Glu1477X
|
54
|
|
548
|
1479
|
35
|
GAC
|
GAG
|
C->G
|
No
|
Tv
|
cb EGF-like #21
|
USA04NOR F16 I3597
|
c.4437C>G
|
p.Asp1479Glu
|
102
|
|
243
|
1487
|
36
|
GAT
|
spl+1
|
G->A
|
|
Ts
|
cb EGF-like #22
|
USA03STA F32 I01
|
c.IVS36+1G>A
|
|
54
|
|
440
|
1487
|
36
|
GAT
|
spl-8
|
G->A
|
|
Ts
|
cb EGF-like #22
|
BEL01GHE F66 I1822
|
c.IVS35-8G>A
|
|
89
|
|
286
|
1495
|
36
|
ACC
|
del1c
|
Stop at 1519
|
|
Fr.
|
cb EGF-like #22
|
UKD04OXF F04 I04
|
c.4485delC
|
p.Thr1495fsX24
|
58
|
|
98
|
1497
|
36
|
TGC
|
TCC
|
G->C
|
No
|
Tv
|
cb EGF-like #22
|
BRA01SPA F05 I01
|
c.4490G>C
|
p.Cys1497Ser
|
39
|
|
22
|
1513
|
36
|
TGC
|
CGC
|
T->C
|
No
|
Tv
|
cb EGF-like #22
|
FIN01HEL F08 I01
|
c.4537T>C
|
p.Cys1513Arg
|
10
|
|
587
|
1523
|
36
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
cb EGF-like #22
|
USA03STA F75 I997
|
c.4567C>T
|
p.Arg1523X
|
104
|
|
494
|
1523
|
36
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
cb EGF-like #22
|
FRA01BOU F91 I471
|
c.4567C>T
|
p.Arg1523X
|
64
|
|
322
|
1523
|
36
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
cb EGF-like #22
|
USA01BAL F34 I27
|
c.4567C>T
|
p.Arg1523X
|
81
|
|
443
|
1530
|
37
|
CGC
|
TGC
|
C->T
|
Yes
|
Ts
|
8-Cys #04
|
BEL01GHE F69 I38
|
c.4588C>T
|
p.Arg1530Cys
|
89
|
|
305
|
1530
|
37
|
CGC
|
TGC
|
C->T
|
Yes
|
Ts
|
8-Cys #04
|
AUS01NAD F19 I42
|
c.4588C>T
|
p.Arg1530Cys
|
71
|
|
389
|
1539
|
37
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
8-Cys #04
|
BEL01GHE F240 I1183
|
c.4615C>T
|
p.Arg1539X
|
89
|
|
338
|
1539
|
37
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
8-Cys #04
|
GER01BER F13 I27
|
c.4615C>T
|
p.Arg1539X
|
80
|
|
391
|
1541
|
37
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
8-Cys #04
|
BEL01GHE F26 I2036
|
c.4621C>T
|
p.Arg1541X
|
89
|
|
279
|
1541
|
37
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
8-Cys #04
|
UKD04OXF F05 I05
|
c.4621C>T
|
p.Arg1541X
|
58
|
|
208
|
1568
|
37
|
AAA
|
del1c
|
Stop at 1580
|
|
Fr.
|
8-Cys #04
|
AUS01NAD F09 I01
|
c.4704delA
|
p.Lys1568fsX12
|
56
|
|
423
|
1569
|
37
|
GCC
|
ins2a
|
Ins
|
|
Fr.
|
8-Cys #04
|
ITA01FLO F05 I04
|
c.4705insAA
|
p.Lys1568_Ala1569delinsAlafsX12
|
93
|
|
519
|
1574
|
37
|
TGT
|
ins23c
|
Ins
|
|
Fr.
|
8-Cys #04
|
BEL01GHE F72 I915
|
c.4722ins23
|
p.Cys1574delinsTrpfsX14
|
89
|
|
299
|
1583
|
37-38
|
TCC
|
spl+5
|
G->T
|
|
Tv
|
8-Cys #04
|
CAN01TOR F01 I19
|
c.IVS37+5G>T
|
|
59
|
|
444
|
1584
|
38
|
GAG
|
TAG
|
G->T
|
No
|
Tv
|
8-Cys #04
|
BEL01GHE F70 I38
|
c.4750G>T
|
p.Glu1584X
|
89
|
|
30
|
1589
|
38
|
TGT
|
TTT
|
G->T
|
No
|
Tv
|
8-Cys #04
|
USA03STA F04 I880
|
c.4766G>T
|
p.Cys1589Phe
|
12
|
|
388
|
1596
|
38
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
8-Cys #04
|
BEL01GHE F23 I1766
|
c.4786C>T
|
p.Arg1596X
|
89
|
|
245
|
1605
|
38
|
GAA
|
AAA
|
G->A
|
No
|
Ts
|
|
USA03STA F33 I01
|
c.4813G>A
|
p.Glu1605Lys
|
54
|
|
610
|
1606
|
38-39
|
GAT
|
spl-1
|
G->A
|
|
Ts
|
cb EGF-like #23
|
GER03HAN F22 I01
|
c.IVS38-1G>A
|
|
107
|
|
204
|
1609
|
39
|
GAG
|
del1b
|
Stop at 1639
|
|
Fr.
|
cb EGF-like #23
|
GER03HAN F04 I01
|
c.4826delA
|
p.Glu1609GlyfsX30
|
66
|
|
116
|
1610
|
39
|
TGC
|
GGC
|
T->G
|
No
|
Tv
|
cb EGF-like #23
|
UKD01EDI F11 I01
|
c.4828T>G
|
p.Cys1610Gly
|
41
|
|
49
|
1619
|
39
|
GGA
|
del1c
|
Stop at 1639
|
|
Fr.
|
cb EGF-like #23
|
USA01BAL F22 I01
|
c.4857delA
|
p.Gly1619fsX20
|
21
|
|
166
|
1631
|
39
|
TGC
|
GGC
|
T->G
|
No
|
Tv
|
cb EGF-like #23
|
AUT01VIE F03 I01
|
c.4891T>G
|
p.Cys1631Gly
|
47
|
|
193
|
1640
|
39
|
AAT
|
del4c
|
Stop at 1648
|
|
Fr.
|
cb EGF-like #23
|
USA08PIT F12 I01
|
c.4920_4923delTGAA
|
p.Asn1640LysfsX8
|
49
|
|
588
|
1644
|
39
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
cb EGF-like #23
|
USA03STA F76 I186
|
c.4930C>T
|
p.Arg1644X
|
104
|
|
392
|
1644
|
39
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
cb EGF-like #23
|
BEL01GHE F27 I2369
|
c.4930C>T
|
p.Arg1644X
|
89
|
|
373
|
1644
|
39
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
cb EGF-like #23
|
UKD05LON F10 I13
|
c.4930C>T
|
p.Arg1644X
|
97
|
|
309
|
1644
|
39
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
cb EGF-like #23
|
AUS01NAD F20 I08
|
c.4930C>T
|
p.Arg1644X
|
71
|
|
246
|
1648
|
39-40
|
GAT
|
spl-1
|
G->C
|
|
Tv
|
cb EGF-like #24
|
USA03STA F34 I01
|
c.IVS39-1G>C
|
|
54
|
|
332
|
1652
|
40
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #24
|
GER01BER F14 I22
|
c.4955G>A
|
p.Cys1652Tyr
|
80
|
|
263
|
1652
|
40
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #24
|
JPN01OSA F04 I01
|
c.4955G>A
|
p.Cys1652Tyr
|
55
|
|
4
|
1663
|
40
|
TGT
|
CGT
|
T->C
|
No
|
Tv
|
cb EGF-like #24
|
USA01BAL F04 I05
|
c.4987T>C
|
p.Cys1663Arg
|
2
|
|
247
|
1667
|
40
|
GTT
|
ATT
|
G->A
|
Yes
|
Ts
|
cb EGF-like #24
|
USA03STA F35 I01
|
c.4999G>A
|
p.Val1667Ile
|
54
|
|
273
|
1672
|
40
|
TGT
|
CGT
|
T->C
|
No
|
Ts
|
cb EGF-like #24
|
USA03STA F59 I17
|
c.5014T>C
|
p.Cys1672Arg
|
57
|
|
274
|
1672
|
40
|
TGT
|
TTT
|
G->T
|
No
|
Tv
|
cb EGF-like #24
|
USA03STA F60 I18
|
c.5015G>T
|
p.Cys1672Phe
|
57
|
|
424
|
1689
|
40-41
|
GAT
|
ins1b
|
Ins
|
|
Fr.
|
8-Cys #05
|
ITA01FLO F06 I06
|
c.5066insG
|
p.Asp1689delinsGlyfsX13
|
93
|
|
596
|
1692
|
41
|
AGA
|
del24a
|
In frame del
|
|
InF
|
8-Cys #05
|
FRA02PAR F01 I01
|
c.5074_5097del
|
p.Arg1692_Tyr1699del
|
106
|
|
425
|
1692
|
41
|
AGA
|
del7c
|
Stop at 1712
|
|
Fr.
|
8-Cys #05
|
ITA01FLO F07 I04
|
c.5076_5082del
|
p.Arg1692SerfsX20
|
93
|
|
9
|
1713
|
41
|
AAC
|
ins4b
|
Ins
|
|
Fr.
|
8-Cys #05
|
USA01BAL F09 I03
|
c.5138insTTCA
|
p.Asn1713delinsIlefsX22
|
4
|
|
148
|
1721
|
41
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
8-Cys #05
|
UKD03DUN F06 I01
|
c.5162G>A
|
p.Cys1721Tyr
|
70
|
|
557
|
1742
|
41-42
|
GAT
|
del198b
|
In frame del
|
|
InF
|
8-Cys #05
|
USA03STA F64 I774
|
c.5225_5422del
|
p.Asp1742_Glu1807del
|
91
|
|
248
|
1747
|
42
|
CTC
|
ins5c
|
Ins
|
|
Fr.
|
8-Cys #05
|
USA03STA F36 I01
|
c.5241insACACT
|
p.Leu1747delinsLeufsX147
|
54
|
|
360
|
1769
|
43
|
GAG
|
AAG
|
G->A
|
No
|
Ts
|
cb EGF-like #25
|
FRA01BOU F27 I34
|
c.5305G>A
|
p.Glu1769Lys
|
64
|
|
310
|
1770
|
43
|
TGC
|
TTC
|
G->T
|
No
|
Tv
|
cb EGF-like #25
|
AUS01NAD F21 I25
|
c.5309G>T
|
p.Cys1770Phe
|
71
|
|
205
|
1771
|
43
|
CGG
|
del1a
|
Stop at 1892
|
|
Fr.
|
cb EGF-like #25
|
GER03HAN F03 I01
|
c.5311delC
|
p.Arg1771GlyfsX121
|
66
|
|
511
|
1782
|
43
|
TGT
|
CGT
|
T->C
|
No
|
Ts
|
cb EGF-like #25
|
FRA01BOU F129 I611
|
c.5344T>C
|
p.Cys1782Arg
|
64
|
|
466
|
1790
|
43
|
CGA
|
CCA
|
G->C
|
No
|
Tv
|
cb EGF-like #25
|
GER01BER F43 I43
|
c.5369G>C
|
p.Arg1790Pro
|
95
|
|
407
|
1790
|
43
|
CGA
|
CCA
|
G->C
|
No
|
Tv
|
cb EGF-like #25
|
BEL01GHE F42 I1597
|
c.5369G>C
|
p.Arg1790Pro
|
89
|
|
378
|
1791
|
43
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #25
|
BEL01GHE F15 I2163
|
c.5372G>A
|
p.Cys1791Tyr
|
89
|
|
311
|
1793
|
43
|
TGT
|
TGG
|
T->G
|
No
|
Tv
|
cb EGF-like #25
|
AUS01NAD F22 I32
|
c.5379T>G
|
p.Cys1793Trp
|
71
|
|
576
|
1796
|
43
|
GGA
|
GAA
|
G->A
|
No
|
Ts
|
cb EGF-like #25
|
AUS01NAD F26 I01
|
c.5387G>A
|
p.Gly1796Glu
|
103
|
|
374
|
1796
|
43
|
GGA
|
GTA
|
G->T
|
No
|
Tv
|
cb EGF-like #25
|
UKD05LON F11 I09
|
c.5387G>T
|
p.Gly1796Val
|
97
|
|
603
|
1806
|
43
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #25
|
GER03HAN F15 I09
|
c.5417G>A
|
p.Cys1806Tyr
|
107
|
|
560
|
1806
|
43
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #25
|
USA04NOR F17 I3696
|
c.5417G>A
|
p.Cys1806Tyr
|
102
|
|
465
|
1806
|
43
|
TGT
|
TCT
|
G->C
|
No
|
Tv
|
cb EGF-like #25
|
GER01BER F44 I05
|
c.5417G>C
|
p.Cys1806Ser
|
95
|
|
558
|
1808
|
43-44
|
GAT
|
del366b
|
In frame del
|
|
InF
|
cb EGF-like #26
|
USA03STA F65 I890
|
c.5423_5788del
|
p.Asp1808_Ile1929del
|
91
|
|
476
|
1808
|
43-44
|
GAT
|
spl-1
|
G->T
|
|
Tv
|
cb EGF-like #26
|
GER01BER F45 I19
|
c.IVS43-1G>T
|
|
95
|
|
375
|
1811
|
44
|
GAG
|
AAG
|
G->A
|
Yes
|
Ts
|
cb EGF-like #26
|
UKD05LON F12 I17
|
c.5431G>A
|
p.Glu1811Lys
|
97
|
|
100
|
1818
|
44
|
TGC
|
TAC
|
G->A
|
No
|
Ts
|
cb EGF-like #26
|
BRA01SPA F06 I01
|
c.5453G>A
|
p.Cys1818Tyr
|
39
|
|
99
|
1823
|
44
|
GAA
|
TAA
|
G->T
|
No
|
Tv
|
cb EGF-like #26
|
BRA01SPA F07 I01
|
c.5467G>T
|
p.Glu1823X
|
39
|
|
518
|
1829
|
44
|
GGC
|
ins15a
|
Ins
|
|
Fr.
|
cb EGF-like #26
|
BEL01GHE F71 I1804
|
c.5485ins15
|
p.Cys1824_Gly1829dup
|
89
|
|
481
|
1829
|
44
|
GGC
|
ins15a
|
Ins
|
|
Fr.
|
cb EGF-like #26
|
FRA01BOU F174 I756
|
c.5485ins15
|
p.Cys1824_Gly1829dup
|
64
|
|
143
|
1832
|
44
|
CGC
|
TGC
|
C->T
|
Yes
|
Ts
|
cb EGF-like #26
|
UKD03DUN F07 I01
|
c.5494C>T
|
p.Arg1832Cys
|
70
|
|
202
|
1833
|
44
|
TGT
|
TCT
|
G->C
|
No
|
Tv
|
cb EGF-like #26
|
GER03HAN F06 I01
|
c.5498G>C
|
p.Cys1833Ser
|
66
|
|
433
|
1834
|
44
|
GAC
|
ins1a
|
Ins
|
|
Fr.
|
cb EGF-like #26
|
BEL01GHE F60 I1988
|
c.5500insT
|
p.Cys1833_Asp1834delinsAspfsX0
|
89
|
|
406
|
1835
|
44
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #26
|
BEL01GHE F41 I1506
|
c.5504G>A
|
p.Cys1835Tyr
|
89
|
|
280
|
1835
|
44
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #26
|
UKD04OXF F06 I06
|
c.5504G>A
|
p.Cys1835Tyr
|
58
|
|
80
|
1837
|
44
|
CCC
|
TCC
|
C->T
|
No
|
Ts
|
cb EGF-like #26
|
USA05HOU F14 I18
|
c.5509C>T
|
p.Pro1837Ser
|
34
|
|
663
|
1849
|
44-45
|
GAT
|
spl-2
|
A->C
|
|
Tv
|
cb EGF-like #27
|
FRA01BOU F393 I1415
|
c.IVS44-2A>C
|
|
64
|
|
573
|
1849
|
44-45
|
GAT
|
spl-2
|
A->G
|
|
Ts
|
cb EGF-like #27
|
UKD04OXF F18 I15
|
c.IVS44-2A>G
|
|
88
|
|
550
|
1849
|
44-45
|
GAT
|
spl-2
|
A->G
|
|
Ts
|
cb EGF-like #27
|
USA04NOR F18 I3520
|
c.IVS44-2A>G
|
|
102
|
|
486
|
1854
|
45
|
CAA
|
TAA
|
C->T
|
No
|
Ts
|
cb EGF-like #27
|
FRA01BOU F92 I474
|
c.5560C>T
|
p.Gln1854X
|
64
|
|
376
|
1879
|
45
|
GGT
|
GAT
|
G->A
|
No
|
Ts
|
cb EGF-like #27
|
UKD05LON F13 I32
|
c.5636G>A
|
p.Gly1879Asp
|
97
|
|
117
|
1893
|
46
|
AAT
|
AAA
|
T->A
|
No
|
Tv
|
cb EGF-like #28
|
UKD01EDI F12 I01
|
c.5679T>A
|
p.Asn1893Lys
|
41
|
|
531
|
1895
|
46
|
TGT
|
CGT
|
T->C
|
No
|
Ts
|
cb EGF-like #28
|
KOR01SEO F04 I01
|
c.5683T>C
|
p.Cys1895Arg
|
100
|
|
604
|
1908
|
46
|
ACA
|
ATA
|
C->T
|
No
|
Ts
|
cb EGF-like #28
|
GER03HAN F16 I10
|
c.5723C>T
|
p.Thr1908Ile
|
107
|
|
401
|
1909
|
46
|
ATT
|
ACT
|
T->C
|
No
|
Ts
|
cb EGF-like #28
|
BEL01GHE F36 I979
|
c.5726T>C
|
p.Ile1909Thr
|
89
|
|
101
|
1910
|
46
|
GGT
|
GTT
|
G->T
|
No
|
Tv
|
cb EGF-like #28
|
BRA01SPA F08 I01
|
c.5729G>T
|
p.Gly1910Val
|
39
|
|
381
|
1915
|
46
|
CGC
|
AGC
|
C->A
|
No
|
Tv
|
cb EGF-like #28
|
BEL01GHE F17 I2066
|
c.5743C>A
|
p.Arg1915Ser
|
89
|
|
514
|
1916
|
46
|
TGC
|
AGC
|
T->A
|
No
|
Tv
|
cb EGF-like #28
|
FRA01BOU F62 I348
|
c.5746T>A
|
p.Cys1916Ser
|
64
|
|
605
|
1919
|
46
|
GGT
|
GAT
|
G->A
|
No
|
Ts
|
cb EGF-like #28
|
GER03HAN F17 I11
|
c.5756G>A
|
p.Gly1919Asp
|
107
|
|
47
|
1928
|
46
|
TGT
|
CGT
|
T->C
|
No
|
Tv
|
cb EGF-like #28
|
USA01BAL F23 I01
|
c.5782T>C
|
p.Cys1928Arg
|
21
|
|
249
|
1930
|
46-47
|
GAT
|
AAT
|
G->A
|
No
|
Ts
|
cb EGF-like #29
|
USA03STA F37 I01
|
c.5788G>A
|
p.Asp1930Asn
|
54
|
|
645
|
1930
|
46-47
|
GAT
|
spl+1
|
G->A
|
|
Ts
|
cb EGF-like #29
|
FRA01BOU F487 I1653
|
c.IVS46+1G>A
|
|
64
|
|
420
|
1930
|
46-47
|
GAT
|
spl+1
|
G->A
|
|
Ts
|
cb EGF-like #29
|
UKD04OXF F21 I01
|
c.IVS46+1G>A
|
|
90
|
|
606
|
1930
|
46-47
|
GAT
|
spl+5
|
G->A
|
|
Ts
|
cb EGF-like #29
|
GER03HAN F18 I12
|
c.IVS46+5G>A
|
|
107
|
|
552
|
1930
|
46-47
|
GAT
|
spl+5
|
G->A
|
|
Ts
|
cb EGF-like #29
|
USA04NOR F19 I3459
|
c.IVS46+5G>A
|
|
102
|
|
442
|
1930
|
46-47
|
GAT
|
spl+5
|
G->A
|
|
Ts
|
cb EGF-like #29
|
BEL01GHE F68 I1316
|
c.IVS46+5G>A
|
|
89
|
|
362
|
1930
|
46-47
|
GAT
|
spl+5
|
G->A
|
|
Ts
|
cb EGF-like #29
|
USA01BAL F35 I32
|
c.IVS46+5G>A
|
|
81
|
|
218
|
1930
|
46-47
|
GAT
|
spl+5
|
G->A
|
|
Ts
|
cb EGF-like #29
|
USA08PIT F13 I01
|
c.IVS46+5G>A
|
|
49
|
|
53
|
1930
|
46-47
|
GAT
|
spl+5
|
G->A
|
|
Ts
|
cb EGF-like #29
|
USA01BAL F26 I01
|
c.IVS46+5G>A
|
|
21
|
|
54
|
1930
|
46-47
|
GAT
|
spl+5
|
G->A
|
|
Ts
|
cb EGF-like #29
|
USA01BAL F25 I01
|
c.IVS46+5G>A
|
|
21
|
|
55
|
1930
|
46-47
|
GAT
|
spl+5
|
G->A
|
|
Ts
|
cb EGF-like #29
|
USA01BAL F24 I01
|
c.IVS46+5G>A
|
|
21
|
|
92
|
1930
|
46-47
|
GAT
|
spl+5
|
G->A
|
|
Ts
|
cb EGF-like #29
|
USA03STA F07 I815
|
c.IVS46+5G>A
|
|
28
|
|
467
|
1931
|
47
|
GTT
|
del3a
|
In frame del
|
|
InF
|
cb EGF-like #29
|
GER01BER F46 I52
|
c.5791_5793delGTT
|
p.Val1931del
|
95
|
|
589
|
1942
|
47
|
TGC
|
TGA
|
C->A
|
No
|
Tv
|
cb EGF-like #29
|
USA03STA F77 I768
|
c.5826C>A
|
p.Cys1942X
|
104
|
|
590
|
1955
|
47
|
CAG
|
TAG
|
C->T
|
No
|
Ts
|
cb EGF-like #29
|
USA03STA F78 I754
|
c.5863C>T
|
p.Gln1955X
|
104
|
|
138
|
1966
|
47
|
CCA
|
del1c
|
Stop at 1979
|
|
Fr.
|
cb EGF-like #29
|
BEL01GHE F02 I01
|
c.5898delA
|
p.Pro1966fsX13
|
89
|
|
421
|
1971
|
47
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #29
|
BEL01GHE F74 I01
|
c.5912G>A
|
p.Cys1971Tyr
|
92
|
|
383
|
1971
|
47
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #29
|
BEL01GHE F11 I2312
|
c.5912G>A
|
p.Cys1971Tyr
|
89
|
|
567
|
1977
|
48
|
TGT
|
CGT
|
T->C
|
No
|
Ts
|
cb EGF-like #30
|
UKD04OXF F12 I41
|
c.5929T>C
|
p.Cys1977Arg
|
88
|
|
136
|
1977
|
48
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #30
|
BEL01GHE F04 I01
|
c.5930G>A
|
p.Cys1977Tyr
|
89
|
|
366
|
1987
|
48
|
GGT
|
CGT
|
G->C
|
No
|
Tv
|
cb EGF-like #30
|
UKD05LON F03 I14
|
c.5959G>C
|
p.Gly1987Arg
|
83
|
|
144
|
1997
|
48
|
AGA
|
TGA
|
A->T
|
No
|
Tv
|
cb EGF-like #30
|
UKD03DUN F08 I01
|
c.5989A>T
|
p.Arg1997X
|
70
|
|
468
|
1998
|
48
|
TGC
|
TAC
|
G->A
|
No
|
Ts
|
cb EGF-like #30
|
GER01BER F47 I16
|
c.5993G>A
|
p.Cys1998Tyr
|
95
|
|
353
|
2003
|
48
|
GGA
|
del1c
|
Stop at 2058
|
|
Fr.
|
cb EGF-like #30
|
FRA01BOU F52 I367
|
c.6009delA
|
p.Gly2003fsX55
|
64
|
|
206
|
2006
|
48
|
CTT
|
del1c
|
Stop at 2058
|
|
Fr.
|
cb EGF-like #30
|
GER03HAN F02 I01
|
c.6018delT
|
p.Leu2006fsX52
|
66
|
|
250
|
2017
|
49
|
TGT
|
CGT
|
T->C
|
No
|
Ts
|
cb EGF-like #31
|
USA03STA F37 I06
|
c.6049T>C
|
p.Cys2017Arg
|
54
|
|
252
|
2023
|
49
|
ATT
|
ACT
|
T->C
|
No
|
Ts
|
cb EGF-like #31
|
USA03STA F38 I01
|
c.6068T>C
|
p.Ile2023Thr
|
54
|
|
488
|
2038
|
49
|
TGT
|
TTT
|
G->T
|
No
|
Tv
|
cb EGF-like #31
|
FRA01BOU F166 I720
|
c.6113G>T
|
p.Cys2038Phe
|
64
|
|
251
|
2039
|
49
|
CTG
|
GTG
|
C->G
|
No
|
Tv
|
cb EGF-like #31
|
USA03STA F39 I01
|
c.6115C>G
|
p.Leu2039Val
|
54
|
|
278
|
2053
|
49
|
TGC
|
TTC
|
G->T
|
No
|
Tv
|
cb EGF-like #31
|
USA03STA F61 I25
|
c.6158G>T
|
p.Cys2053Phe
|
57
|
|
293
|
2054
|
49
|
CAA
|
CCA
|
A->C
|
No
|
Tv
|
cb EGF-like #31
|
JPN01OSA F05 I01
|
c.6161A>C
|
p.Gln2054Pro
|
55
|
|
387
|
2054
|
49
|
CAA
|
TAA
|
C->T
|
No
|
Ts
|
cb EGF-like #31
|
BEL01GHE F22 I1639
|
c.6160C>T
|
p.Gln2054X
|
89
|
|
591
|
2055
|
49-50
|
GAT
|
del1a
|
Stop at 2058
|
|
Fr.
|
8-Cys #06
|
USA03STA F79 I733
|
c.6163delG
|
p.Asp2055IlefsX3
|
104
|
|
93
|
2055
|
49-50
|
GAT
|
spl+2
|
del6
|
|
|
8-Cys #06
|
USA03STA F08 I1070
|
c.IVS49+2del6
|
|
28
|
|
255
|
2057
|
50
|
CGA
|
CAA
|
G->A
|
Yes
|
Ts
|
8-Cys #06
|
USA03STA F41 I01
|
c.6170G>A
|
p.Arg2057Gln
|
54
|
|
253
|
2057
|
50
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
8-Cys #06
|
USA03STA F40 I01
|
c.6169C>T
|
p.Arg2057X
|
54
|
|
254
|
2062
|
50
|
TAT
|
ins1c
|
Ins
|
|
Fr.
|
8-Cys #06
|
USA03STA F42 I01
|
c.6186insA
|
p.Tyr2062delinsStopfsX0
|
54
|
|
595
|
2096
|
50
|
TGC
|
ins1a
|
Ins
|
|
Fr.
|
8-Cys #06
|
USA03STA F80 I1220
|
c.6286insC
|
p.Pro2095_Cys2096delinsCysfsX8
|
104
|
|
118
|
2099
|
50
|
TGC
|
TGG
|
C->G
|
No
|
Tv
|
8-Cys #06
|
UKD01EDI F13 I01
|
c.6297C>G
|
p.Cys2099Trp
|
41
|
|
357
|
2101
|
50
|
ACG
|
AAG
|
C->A
|
No
|
Tv
|
8-Cys #06
|
FRA01BOU F65 I395
|
c.6302C>A
|
p.Thr2101Lys
|
64
|
|
477
|
2105
|
50-51
|
GAG
|
spl+3
|
A->G
|
|
Ts
|
8-Cys #06
|
GER01BER F48 I79
|
c.IVS50+3A>G
|
|
95
|
|
630
|
2109
|
51
|
CAG
|
TAG
|
C->T
|
No
|
Ts
|
8-Cys #06
|
FRA01BOU F443 I1541
|
c.6325C>T
|
p.Gln2109X
|
64
|
|
538
|
2111
|
51
|
TGT
|
CGT
|
T->C
|
No
|
Ts
|
8-Cys #06
|
USA04NOR F05 I1528
|
c.6331T>C
|
p.Cys2111Arg
|
101
|
|
119
|
2111
|
51
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
8-Cys #06
|
UKD01EDI F14 I01
|
c.6332G>A
|
p.Cys2111Tyr
|
41
|
|
57
|
2113
|
51
|
TAT
|
TAG
|
T->G
|
No
|
Tv
|
8-Cys #06
|
USA01BAL F11 I07
|
c.6339T>G
|
p.Tyr2113X
|
5
|
|
145
|
2118
|
51
|
ATC
|
ATT
|
C->T
|
Yes
|
Ts
|
8-Cys #06
|
USA03STA F11 I01
|
c.6354C>T
|
p.Ile2118Ile
|
42
|
|
23
|
2127
|
51-52
|
GAT
|
GAA
|
T->A
|
No
|
Tv
|
|
FIN01HEL F09 I01
|
c.6381T>A
|
p.Asp2127Glu
|
10
|
|
264
|
2127
|
51-52
|
GAT
|
TAT
|
G->T
|
No
|
Tv
|
|
JPN01OSA F06 I01
|
c.6379G>T
|
p.Asp2127Tyr
|
55
|
|
513
|
2138
|
52
|
AAA
|
ins3a
|
Ins
|
|
Fr.
|
|
FRA01BOU F141 I697
|
c.6412insTGT
|
p.Cys2137_Lys2138dup
|
64
|
|
592
|
2141
|
52
|
CAG
|
del1c
|
Stop at 2159
|
|
Fr.
|
|
USA03STA F81 I939
|
c.6423delG
|
p.Gln2141HisfsX18
|
104
|
|
203
|
2142
|
52
|
TGC
|
TAC
|
G->A
|
No
|
Ts
|
|
GER03HAN F05 I01
|
c.6425G>A
|
p.Cys2142Tyr
|
66
|
|
14
|
2144
|
52
|
AAT
|
AGT
|
A->G
|
No
|
Tv
|
|
UKD02OXF F01 I733
|
c.6431A>G
|
p.Asn2144Ser
|
8
|
|
636
|
2151
|
52
|
TGC
|
CGC
|
T->C
|
No
|
Ts
|
|
FRA01BOU F267 I995
|
c.6451T>C
|
p.Cys2151Arg
|
64
|
|
24
|
2151
|
52
|
TGC
|
TGG
|
C->G
|
No
|
Tv
|
|
FIN01HEL F10 I01
|
c.6453C>G
|
p.Cys2151Trp
|
10
|
|
637
|
2153
|
52
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
|
FRA01BOU F385 I1394
|
c.6458G>A
|
p.Cys2153Tyr
|
64
|
|
367
|
2153
|
52
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
|
UKD05LON F04 I08
|
c.6458G>A
|
p.Cys2153Tyr
|
83
|
|
428
|
2154
|
52
|
CCC
|
CGC
|
C->G
|
No
|
Tv
|
|
BEL01GHE F55 I1809
|
c.6461C>G
|
p.Pro2154Arg
|
89
|
|
165
|
2160
|
52
|
GCA
|
CCA
|
G->C
|
No
|
Tv
|
|
AUT01VIE F04 I01
|
c.6478G>C
|
p.Ala2160Pro
|
47
|
|
555
|
2166
|
52-53
|
GAT
|
del120b
|
In frame del
|
|
InF
|
cb EGF-like #33
|
BEL01GHE F13 I1539
|
c.6497_6616del
|
p.Asp2166_Glu2205del
|
89
|
|
520
|
2166
|
52-53
|
GAT
|
spl+2
|
insTG
|
|
Tv
|
cb EGF-like #33
|
BEL01GHE F73 I01
|
c.IVS52+2insTG
|
|
89
|
|
256
|
2171
|
53
|
TCT
|
del1c
|
Stop at 2184
|
|
Fr.
|
cb EGF-like #33
|
USA03STA F43 I01
|
c.6513delT
|
p.Ser2171fsX13
|
54
|
|
312
|
2193
|
53
|
GAG
|
TAG
|
G->T
|
No
|
Tv
|
cb EGF-like #33
|
AUS01NAD F23 I43
|
c.6577G>T
|
p.Glu2193X
|
71
|
|
390
|
2195
|
53
|
GGA
|
TGA
|
G->T
|
No
|
Tv
|
cb EGF-like #33
|
BEL01GHE F25 I1692
|
c.6583G>T
|
p.Gly2195X
|
89
|
|
11
|
2206
|
53-54
|
GAT
|
spl+1
|
G->C
|
|
Tv
|
cb EGF-like #34
|
USA02OMA F01 I01
|
c.IVS53+1G>C
|
|
6
|
|
499
|
2220
|
54
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
cb EGF-like #34
|
FRA01BOU F148 I686
|
c.6658C>T
|
p.Arg2220X
|
64
|
|
351
|
2220
|
54
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
cb EGF-like #34
|
JPN01OSA F07 I01
|
c.6658C>T
|
p.Arg2220X
|
55
|
|
271
|
2221
|
54
|
TGT
|
CGT
|
T->C
|
No
|
Ts
|
cb EGF-like #34
|
USA03STA F62 I15
|
c.6661T>C
|
p.Cys2221Arg
|
57
|
|
265
|
2221
|
54
|
TGT
|
CGT
|
T->C
|
No
|
Ts
|
cb EGF-like #34
|
JPN01OSA F08 I01
|
c.6661T>C
|
p.Cys2221Arg
|
55
|
|
471
|
2221
|
54
|
TGT
|
GGT
|
T->G
|
No
|
Tv
|
cb EGF-like #34
|
GER01BER F50 I37
|
c.6661T>G
|
p.Cys2221Gly
|
95
|
|
470
|
2221
|
54
|
TGT
|
GGT
|
T->G
|
No
|
Tv
|
cb EGF-like #34
|
GER01BER F49 I67
|
c.6661T>G
|
p.Cys2221Gly
|
95
|
|
7
|
2221
|
54
|
TGT
|
TCT
|
G->C
|
No
|
Tv
|
cb EGF-like #34
|
USA01BAL F05 I06
|
c.6662G>C
|
p.Cys2221Ser
|
2
|
|
410
|
2223
|
54
|
AAC
|
CAC
|
A->C
|
No
|
Tv
|
cb EGF-like #34
|
BEL01GHE F45 I1317
|
c.6667A>C
|
p.Asn2223His
|
89
|
|
174
|
2232
|
54
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #34
|
ITA01FLO F02 I02
|
c.6695G>A
|
p.Cys2232Tyr
|
50
|
|
219
|
2251
|
55
|
TGT
|
AGT
|
T->A
|
No
|
Tv
|
cb EGF-like #35
|
USA08PIT F14 I01
|
c.6751T>A
|
p.Cys2251Ser
|
49
|
|
607
|
2251
|
55
|
TGT
|
CGT
|
T->C
|
No
|
Ts
|
cb EGF-like #35
|
GER03HAN F19 I13
|
c.6751T>C
|
p.Cys2251Arg
|
107
|
|
120
|
2258
|
55
|
TGT
|
CGT
|
T->C
|
No
|
Tv
|
cb EGF-like #35
|
UKD01EDI F15 I01
|
c.6772T>C
|
p.Cys2258Arg
|
41
|
|
281
|
2258
|
55
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #35
|
UKD04OXF F07 I07
|
c.6773G>A
|
p.Cys2258Tyr
|
58
|
|
48
|
2262
|
55
|
CAA
|
TAA
|
C->T
|
No
|
Ts
|
cb EGF-like #35
|
USA01BAL F27 I01
|
c.6784C>T
|
p.Gln2262X
|
21
|
|
472
|
2269
|
55
|
ATT
|
ACT
|
T->C
|
No
|
Ts
|
cb EGF-like #35
|
GER01BER F51 I45
|
c.6806T>C
|
p.Ile2269Thr
|
95
|
|
257
|
2269
|
55
|
ATT
|
ACT
|
T->C
|
No
|
Ts
|
cb EGF-like #35
|
USA03STA F44 I01
|
c.6806T>C
|
p.Ile2269Thr
|
54
|
|
643
|
2272
|
55
|
TAT
|
TGT
|
A->G
|
No
|
Ts
|
cb EGF-like #35
|
FRA01BOU F402 I1438
|
c.6815A>G
|
p.Tyr2272Cys
|
64
|
|
394
|
2282
|
55
|
CGG
|
TGG
|
C->T
|
Yes
|
Ts
|
cb EGF-like #35
|
BEL01GHE F29 I2228
|
c.6844C>T
|
p.Arg2282Trp
|
89
|
|
121
|
2282
|
55
|
CGG
|
TGG
|
C->T
|
Yes
|
Ts
|
cb EGF-like #35
|
UKD01EDI F16 I01
|
c.6844C>T
|
p.Arg2282Trp
|
41
|
|
132
|
2282
|
55
|
CGG
|
TGG
|
C->T
|
Yes
|
Ts
|
cb EGF-like #35
|
BEL01GHE F08 I01
|
c.6844C>T
|
p.Arg2282Trp
|
89
|
|
521
|
2295
|
56
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #36
|
BEL01GHE F74 I01
|
c.6884G>A
|
p.Cys2295Tyr
|
98
|
|
356
|
2307
|
56
|
TGC
|
CGC
|
T->C
|
No
|
Ts
|
cb EGF-like #36
|
FRA01BOU F133 I674
|
c.6919T>C
|
p.Cys2307Arg
|
64
|
|
5
|
2307
|
56
|
TGC
|
TCC
|
G->C
|
No
|
Tv
|
cb EGF-like #36
|
USA01BAL F06 I01
|
c.6920G>C
|
p.Cys2307Ser
|
3
|
|
522
|
2332
|
56
|
CTT
|
del1c
|
Stop at 2397
|
|
Fr.
|
cb EGF-like #36
|
BEL01GHE F75 I01
|
c.6996delT
|
p.Leu2332fsX65
|
98
|
|
94
|
2333
|
56-57
|
GAC
|
spl+1
|
G->A
|
|
Ts
|
8-Cys #07
|
USA03STA F09 I749
|
c.IVS56+1G>A
|
|
28
|
|
479
|
2333
|
56-57
|
GAC
|
spl+17
|
delG
|
|
delG
|
8-Cys #07
|
FRA01BOU F40 I293
|
c.IVS56+17delG
|
|
64
|
|
574
|
2333
|
56-57
|
GAC
|
spl-2
|
A->G
|
|
Ts
|
8-Cys #07
|
UKD04OXF F19 I02
|
c.IVS56-2A>G
|
|
88
|
|
474
|
2335
|
57
|
CGG
|
TGG
|
C->T
|
Yes
|
Ts
|
8-Cys #07
|
GER01BER F52 I63
|
c.7003C>T
|
p.Arg2335Trp
|
95
|
|
473
|
2339
|
57
|
TGC
|
TAC
|
G->A
|
No
|
Ts
|
8-Cys #07
|
GER01BER F53 I21
|
c.7016G>A
|
p.Cys2339Tyr
|
95
|
|
539
|
2347
|
57
|
ATG
|
del2a
|
Stop at 2365
|
|
Fr.
|
8-Cys #07
|
USA04NOR F06 I5213
|
c.7039_7040delAT
|
p.Met2347ValfsX18
|
101
|
|
627
|
2350
|
57
|
ATC
|
GTC
|
A->G
|
No
|
Ts
|
8-Cys #07
|
FRA01BOU F45 I343
|
c.7048A>G
|
p.Ile2350Val
|
64
|
|
553
|
2373
|
57
|
CCC
|
ins1a
|
Ins
|
|
Fr.
|
8-Cys #07
|
USA04NOR F20 I3484
|
c.7117insT
|
p.Gly2372_Pro2373delinsProfsX3
|
102
|
|
283
|
2394
|
57
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
8-Cys #07
|
UKD04OXF F08 I08
|
c.7180C>T
|
p.Arg2394X
|
58
|
|
95
|
2402
|
57-58
|
GAT
|
spl-2
|
A->G
|
|
Ts
|
cb EGF-like #37
|
USA03STA F10 I970
|
c.IVS57-2A>G
|
|
28
|
|
415
|
2406
|
58
|
TGC
|
TAC
|
G->A
|
No
|
Ts
|
cb EGF-like #37
|
BEL01GHE F50 I473
|
c.7217G>A
|
p.Cys2406Tyr
|
89
|
|
593
|
2414
|
58
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
cb EGF-like #37
|
USA03STA F82 I938
|
c.7240C>T
|
p.Arg2414X
|
104
|
|
540
|
2414
|
58
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
cb EGF-like #37
|
USA04NOR F07 I1605
|
c.7240C>T
|
p.Arg2414X
|
101
|
|
207
|
2431
|
58
|
ACT
|
del1a
|
Stop at 2437
|
|
Fr.
|
cb EGF-like #37
|
GER03HAN F01 I01
|
c.7291delA
|
p.Thr2431LeufsX6
|
66
|
|
541
|
2436
|
58
|
GAT
|
del14a
|
Stop at 2482
|
|
Fr.
|
cb EGF-like #37
|
USA04NOR F08 I1371
|
c.7306_7319del
|
p.Asp2436PhefsX46
|
101
|
|
324
|
2444
|
58-59
|
GAT
|
spl-2
|
A->G
|
|
Ts
|
cb EGF-like #38
|
GER01BER F15 I55
|
c.IVS58-2A>G
|
|
82
|
|
31
|
2447
|
59
|
GAG
|
AAG
|
G->A
|
Yes
|
Ts
|
cb EGF-like #38
|
FIN01HEL F12 I01
|
c.7339G>A
|
p.Glu2447Lys
|
13
|
|
568
|
2466
|
59
|
TAC
|
TAA
|
C->A
|
No
|
Tv
|
cb EGF-like #38
|
UKD04OXF F13 I26
|
c.7398C>A
|
p.Tyr2466X
|
88
|
|
386
|
2466
|
59
|
TAC
|
TAA
|
C->A
|
No
|
Tv
|
cb EGF-like #38
|
BEL01GHE F21 I2307
|
c.7398C>A
|
p.Tyr2466X
|
89
|
|
569
|
2467
|
59
|
CAG
|
AAG
|
C->A
|
No
|
Tv
|
cb EGF-like #38
|
UKD04OXF F14 I24
|
c.7399C>A
|
p.Gln2467Lys
|
88
|
|
542
|
2474
|
59
|
TAC
|
TGC
|
A->G
|
No
|
Ts
|
cb EGF-like #38
|
USA04NOR F09 I1129
|
c.7421A>G
|
p.Tyr2474Cys
|
101
|
|
15
|
2486
|
60
|
CTT
|
del366a
|
In frame del
|
|
InF
|
cb EGF-like #39
|
FIN01HEL F01 I01
|
c.7456_7821del
|
p.Leu2486_Asp2607del
|
9
|
|
122
|
2489
|
60
|
TGT
|
CGT
|
T->C
|
No
|
Tv
|
cb EGF-like #39
|
UKD01EDI F17 I01
|
c.7465T>C
|
p.Cys2489Arg
|
41
|
|
126
|
2511
|
60
|
TGT
|
CGT
|
T->C
|
No
|
Tv
|
cb EGF-like #39
|
FIN01HEL F11 I01
|
c.7531T>C
|
p.Cys2511Arg
|
10
|
|
220
|
2511
|
60
|
TGT
|
TAT
|
G->A
|
No
|
Ts
|
cb EGF-like #39
|
USA08PIT F15 I01
|
c.7532G>A
|
p.Cys2511Tyr
|
49
|
|
624
|
2514
|
60
|
GGA
|
TGA
|
G->T
|
No
|
Tv
|
cb EGF-like #39
|
FRA01BOU F317 I1185
|
c.7540G>T
|
p.Gly2514X
|
64
|
|
323
|
2522
|
60
|
TGC
|
TCC
|
G->C
|
No
|
Tv
|
cb EGF-like #39
|
GER01BER F16 I13
|
c.7565G>C
|
p.Cys2522Ser
|
82
|
|
435
|
2526
|
61
|
AAT
|
del1b
|
Stop at 2681
|
|
Fr.
|
cb EGF-like #40
|
BEL01GHE F62 I1120
|
c.7577delA
|
p.Asn2526MetfsX155
|
89
|
|
325
|
2535
|
61
|
TGC
|
TGA
|
C->A
|
No
|
Tv
|
cb EGF-like #40
|
GER01BER F17 I22
|
c.7605C>A
|
p.Cys2535X
|
82
|
|
368
|
2536
|
61
|
GGG
|
AGG
|
G->A
|
Yes
|
Ts
|
cb EGF-like #40
|
UKD05LON F05 I24
|
c.7606G>A
|
p.Gly2536Arg
|
83
|
|
546
|
2554
|
61
|
CGG
|
CAG
|
G->A
|
Yes
|
Ts
|
cb EGF-like #40
|
USA04NOR F21 I3602
|
c.7661G>A
|
p.Arg2554Gln
|
102
|
|
173
|
2577
|
62
|
TGC
|
CGC
|
T->C
|
No
|
Ts
|
cb EGF-like #41
|
ITA01FLO F03 I01
|
c.7729T>C
|
p.Cys2577Arg
|
50
|
|
545
|
2581
|
62
|
TGC
|
TGG
|
C->G
|
No
|
Tv
|
cb EGF-like #41
|
USA04NOR F10 I1599
|
c.7743C>G
|
p.Cys2581Trp
|
101
|
|
408
|
2581
|
62
|
TGC
|
TTC
|
G->T
|
No
|
Tv
|
cb EGF-like #41
|
BEL01GHE F43 I1398
|
c.7742G>T
|
p.Cys2581Phe
|
89
|
|
509
|
2585
|
62
|
ATT
|
ACT
|
T->C
|
No
|
Ts
|
cb EGF-like #41
|
FRA01BOU F111 I630
|
c.7754T>C
|
p.Ile2585Thr
|
64
|
|
483
|
2585
|
62
|
ATT
|
ACT
|
T->C
|
No
|
Ts
|
cb EGF-like #41
|
FRA01BOU F231 I924
|
c.7754T>C
|
p.Ile2585Thr
|
64
|
|
418
|
2585
|
62
|
ATT
|
ACT
|
T->C
|
No
|
Ts
|
cb EGF-like #41
|
BEL01GHE F53 I803
|
c.7754T>C
|
p.Ile2585Thr
|
89
|
|
412
|
2585
|
62
|
ATT
|
ACT
|
T->C
|
No
|
Ts
|
cb EGF-like #41
|
BEL01GHE F47 I1414
|
c.7754T>C
|
p.Ile2585Thr
|
89
|
|
313
|
2585
|
62
|
ATT
|
ACT
|
T->C
|
No
|
Ts
|
cb EGF-like #41
|
AUS01NAD F24 I30
|
c.7754T>C
|
p.Ile2585Thr
|
71
|
|
258
|
2585
|
62
|
ATT
|
ACT
|
T->C
|
No
|
Ts
|
cb EGF-like #41
|
USA03STA F45 I01
|
c.7754T>C
|
p.Ile2585Thr
|
54
|
|
652
|
2586
|
62
|
GGG
|
TGG
|
G->T
|
No
|
Tv
|
cb EGF-like #41
|
FRA01BOU F237 I1031
|
c.7756G>T
|
p.Gly2586Trp
|
64
|
|
641
|
2590
|
62
|
TGC
|
TAC
|
G->A
|
No
|
Ts
|
cb EGF-like #41
|
FRA01BOU F391 I1405
|
c.7769G>A
|
p.Cys2590Tyr
|
64
|
|
298
|
2597
|
62
|
CTC
|
ins1c
|
Ins
|
|
Fr.
|
cb EGF-like #41
|
JPN01OSA F09 I01
|
c.7791insT
|
p.Leu2597delinsLeufsX10
|
55
|
|
259
|
2607
|
62-63
|
GAT
|
GGT
|
A->G
|
No
|
Ts
|
cb EGF-like #42
|
USA03STA F46 I01
|
c.7820A>G
|
p.Asp2607Gly
|
54
|
|
575
|
2607
|
62-63
|
GAT
|
ins1a
|
Ins
|
|
Fr.
|
cb EGF-like #42
|
UKD04OXF F20 I42
|
c.7819insT
|
p.Val2606_Asp2607delinsAspfsX0
|
88
|
|
260
|
2610
|
63
|
GAA
|
AAA
|
G->A
|
Yes
|
Ts
|
cb EGF-like #42
|
USA03STA F47 I01
|
c.7828G>A
|
p.Glu2610Lys
|
54
|
|
221
|
2610
|
63
|
GAA
|
AAA
|
G->A
|
Yes
|
Ts
|
cb EGF-like #42
|
USA08PIT F16 I01
|
c.7828G>A
|
p.Glu2610Lys
|
49
|
|
512
|
2617
|
63
|
TGC
|
TGG
|
C->G
|
No
|
Tv
|
cb EGF-like #42
|
FRA01BOU F144 I669
|
c.7851C>G
|
p.Cys2617Trp
|
64
|
|
413
|
2618
|
63
|
GGA
|
AGA
|
G->A
|
Yes
|
Ts
|
cb EGF-like #42
|
BEL01GHE F48 I1427
|
c.7852G>A
|
p.Gly2618Arg
|
89
|
|
625
|
2622
|
63
|
TGT
|
AGT
|
T->A
|
No
|
Tv
|
cb EGF-like #42
|
FRA01BOU F276 I1068
|
c.7864T>A
|
p.Cys2622Ser
|
64
|
|
108
|
2623
|
63
|
CAC
|
CCC
|
A->C
|
No
|
Tv
|
cb EGF-like #42
|
USA05HOU F03 I01
|
c.7868A>C
|
p.His2623Pro
|
24
|
|
380
|
2624
|
63
|
AAC
|
AAG
|
C->G
|
No
|
Tv
|
cb EGF-like #42
|
BEL01GHE F18 I19311
|
c.7872C>G
|
p.Asn2624Lys
|
89
|
|
640
|
2624
|
63
|
AAC
|
ACC
|
A->C
|
No
|
Tv
|
cb EGF-like #42
|
FRA01BOU F379 I1530
|
c.7871A>C
|
p.Asn2624Thr
|
64
|
|
326
|
2624
|
63
|
AAC
|
AGC
|
A->G
|
No
|
Ts
|
cb EGF-like #42
|
GER01BER F18 I73
|
c.7871A>G
|
p.Asn2624Ser
|
82
|
|
32
|
2627
|
63
|
GGG
|
AGG
|
G->A
|
No
|
Ts
|
cb EGF-like #42
|
FIN01HEL F13 I01
|
c.7879G>A
|
p.Gly2627Arg
|
14
|
|
379
|
2639
|
63
|
TAT
|
AAT
|
T->A
|
No
|
Tv
|
cb EGF-like #42
|
BEL01GHE F10 I833
|
c.7915T>A
|
p.Tyr2639Asn
|
89
|
|
523
|
2639
|
63
|
TAT
|
TGT
|
A->G
|
No
|
Ts
|
cb EGF-like #42
|
BEL01GHE F76 I01
|
c.7916A>G
|
p.Tyr2639Cys
|
98
|
|
369
|
2642
|
63
|
TTC
|
del1c
|
Stop at 2681
|
|
Fr.
|
cb EGF-like #42
|
UKD05LON F06 I26
|
c.7926delC
|
p.Phe2642LeufsX39
|
83
|
|
543
|
2652
|
63
|
TGT
|
GGT
|
T->G
|
No
|
Tv
|
cb EGF-like #43
|
USA04NOR F11 I1306
|
c.7954T>G
|
p.Cys2652Gly
|
101
|
|
594
|
2655
|
63
|
GCG
|
del13c
|
Stop at 2677
|
|
Fr.
|
cb EGF-like #43
|
USA03STA F83 I420
|
c.7965_7977del
|
p.Ala2655fsX22
|
104
|
|
635
|
2656
|
63
|
CAG
|
TAG
|
C->T
|
No
|
Ts
|
cb EGF-like #43
|
FRA01BOU F106 I485
|
c.7966C>T
|
p.Gln2656X
|
64
|
|
524
|
2668
|
63
|
GGC
|
GAC
|
G->A
|
No
|
Ts
|
cb EGF-like #43
|
BEL01GHE F77 I01
|
c.8003G>A
|
p.Gly2668Asp
|
98
|
|
396
|
2668
|
63
|
GGC
|
TGC
|
G->T
|
No
|
Tv
|
cb EGF-like #43
|
BEL01GHE F31 I2185
|
c.8002G>T
|
p.Gly2668Cys
|
89
|
|
608
|
2676
|
63
|
CCT
|
ins1a
|
Ins
|
|
Fr.
|
cb EGF-like #43
|
GER03HAN F20 I14
|
c.8026dup
|
p.Pro2675_Pro2676delinsProfsX28
|
107
|
|
327
|
2680
|
63
|
CGC
|
TGC
|
C->T
|
Yes
|
Ts
|
cb EGF-like #43
|
GER01BER F19 I46
|
c.8038C>T
|
p.Arg2680Cys
|
82
|
|
59
|
2680
|
63
|
CGC
|
TGC
|
C->T
|
Yes
|
Ts
|
cb EGF-like #43
|
USA05HOU F04 I01
|
c.8038C>T
|
p.Arg2680Cys
|
24
|
|
261
|
2684
|
63-64
|
GGG
|
spl+1
|
G->A
|
|
Ts
|
cb EGF-like #43
|
USA03STA F48 I01
|
c.IVS63+1G>A
|
|
54
|
|
188
|
2684
|
63-64
|
GGG
|
spl+5
|
G->A
|
|
Ts
|
cb EGF-like #43
|
USA05HOU F06 I01
|
c.IVS63+5G>A
|
|
24
|
|
60
|
2684
|
63-64
|
GGG
|
spl-2
|
A->G
|
|
Ts
|
cb EGF-like #43
|
USA05HOU F05 I01
|
c.IVS63-2A>G
|
|
24
|
|
262
|
2686
|
64
|
TGT
|
TTT
|
G->T
|
No
|
Tv
|
cb EGF-like #43
|
USA03STA F49 I05
|
c.8057G>T
|
p.Cys2686Phe
|
54
|
|
385
|
2717
|
64
|
GAG
|
TAG
|
G->T
|
No
|
Tv
|
COOH unique region
|
BEL01GHE F20 I1492
|
c.8149G>T
|
p.Glu2717X
|
89
|
|
348
|
2726
|
64
|
CGG
|
TGG
|
C->T
|
Yes
|
Ts
|
COOH unique region
|
UKD03DUN F16 I01
|
c.8176C>T
|
p.Arg2726Trp
|
84
|
|
123
|
2726
|
64
|
CGG
|
TGG
|
C->T
|
Yes
|
Ts
|
COOH unique region
|
USA05HOU F02 I01
|
c.8176C>T
|
p.Arg2726Trp
|
16
|
|
50
|
2746
|
65
|
GAG
|
del2a
|
Stop at 2758
|
|
Fr.
|
COOH unique region
|
USA01BAL F28 I01
|
c.8236_8237delGA
|
p.Glu2746AspfsX12
|
21
|
|
16
|
2756
|
65
|
TGG
|
TGA
|
G->A
|
No
|
Ts
|
COOH unique region
|
FIN01HEL F02 I01
|
c.8268G>A
|
p.Trp2756X
|
9
|
|
38
|
2776
|
65
|
CGA
|
TGA
|
C->T
|
Yes
|
Ts
|
COOH unique region
|
UKD01EDI F03 I58
|
c.8326C>T
|
p.Arg2776X
|
19
|
|
570
|
2780
|
65
|
CTC
|
CCC
|
T->C
|
No
|
Ts
|
COOH unique region
|
UKD04OXF F15 I27
|
c.8339T>C
|
p.Leu2780Pro
|
88
|
|
525
|
2813
|
65
|
AGC
|
ins1b
|
Ins
|
|
Fr.
|
COOH unique region
|
BEL01GHE F78 I01
|
c.8438insC
|
p.Ser2813delinsThrfsX20
|
98
|
|
622
|
2831
|
65
|
ATC
|
del1a
|
Stop at 2845
|
|
Fr.
|
COOH unique region
|
FRA01BOU F157 I707
|
c.8491delA
|
p.Ile2831SerfsX14
|
64
|
|
222
|
2831
|
65
|
ATC
|
del1c
|
Stop at 2845
|
|
Fr.
|
COOH unique region
|
USA08PIT F17 I01
|
c.8493delC
|
p.Ile2831fsX14
|
49
|
|
328
|
2842
|
65
|
CTT
|
del5b
|
Stop at 2848
|
|
Fr.
|
COOH unique region
|
GER01BER F20 I32
|
c.8525_8529delTTAAC
|
p.Leu2842ProfsX6
|
82
|
|
659
|
2845
|
65
|
CTA
|
ins1c
|
Ins
|
|
Fr.
|
COOH unique region
|
FRA01BOU F311 I1178
|
c.8535insT
|
p.Leu2845delinsLeufsX5
|
64
|
|
654
|
2867
|
65
|
CAG
|
TAG
|
C->T
|
No
|
Ts
|
COOH unique region
|
FRA01BOU F374 I1343
|
c.8599C>T
|
p.Gln2867X
|
64
|
|
498
|
2867
|
65
|
CAG
|
TAG
|
C->T
|
No
|
Ts
|
COOH unique region
|
FRA01BOU F210 I853
|
c.8599C>T
|
p.Gln2867X
|
64
|