Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case #/Frequency |
Consequence |
Hereditary pattern*2 |
Symptom |
Onset |
germinal/somatic |
Reference |
N |
296 |
1 |
A |
W99X |
1 |
Trp->Stop at codon 98 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
M |
554 |
1 |
C |
I185T |
1 |
Ile->Thr at codon 185 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
N |
1072 |
1 |
T |
R358X |
1 |
Arg->Stop at codon 358 |
sporadic |
unilateral intraocular tumor |
early |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
N |
1399 |
1 |
T |
R467X |
1 |
Arg->Stop at codon 467 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
N |
1735 |
1 |
T |
R579X |
1 |
Arg->Stop at codon 579 |
AD |
familial intraocular tumors |
early |
germinal |
Blanquet (1994) Hum. Mol. Genet. 3, 1185. |
N |
1738 |
1 |
T |
E580X |
1 |
Glu->Stop at codon 580 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
M |
1903 |
1 |
C |
A635P |
1 |
Ala->Pro at codon 635 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
M |
1961 |
1 |
A |
V654E |
1 |
Val->Glu at codon 654 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
M |
2054 |
1 |
C |
Q685P |
1 |
Gln->Pro at codon 685 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
FD |
305 |
2 |
|
305delGT |
1 |
frameshift at codon 102 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
FD |
1121 |
2 |
|
1121delCA |
1 |
frameshift at codon 374 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
FD |
1262 |
1 |
|
1261delA |
1 |
frameshift at codon 421 |
AD |
familial intraocular tumors |
early |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
D |
1704 |
3 |
|
1701delTTT |
1 |
D of Leu at codon 569 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
FD |
1859 |
2 |
|
1859delCG |
1 |
frameshift at codon 621 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
FD |
1884 |
2 |
|
1884delAG |
1 |
frameshift at codon 629 |
AD |
familial intraocular tumors |
early |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
FD |
2331 |
1 |
|
2331delT |
1 |
frameshift at codon 778 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
S |
607+1 |
1 |
A |
607+1G->A |
1 |
loss of splice donor site |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
R |
380+12 |
1 |
C |
380+12T->C |
1 |
intron mutation |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
R |
380+45 |
1 |
T |
380+45C->T |
1 |
intron mutation |
sporadic |
unilateral intraocular tumor |
early |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
R |
862-27 |
1 |
C |
862-27A->C |
1 |
intron mutation |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
R |
1050-57 |
1 |
C |
1050-57A->C |
1 |
intron mutation |
sporadic |
unilateral intraocular tumor |
early |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
R |
1127+41 |
1 |
C |
1127+41A->C |
1 |
intron mutation |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
R |
1216-29 |
1 |
G |
1216-29A->G |
1 |
intron mutation |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
DU |
2713+187 |
4 |
GAAG |
2713+188dupGAAG |
1 |
intron mutation |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
P |
1981 |
1 |
A |
1981C->A |
5% |
no amino acid change |
ND |
ND |
ND |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
P |
264+76 |
1 |
T |
264+76C->T |
15% |
intron Pism |
ND |
ND |
ND |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
P |
380+37 |
1 |
G |
380+37A->G |
5% |
intron Pism |
ND |
ND |
ND |
germinal |
Blanquet (1995) Hum. Mol. Genet. 4, 383. |
FD |
195 |
2 |
|
195delGA |
1 |
frameshift at codon 65 |
sporadic |
unilateral intraocular tumor |
early |
germinal |
Blanquet (1993) Hum. Mol. Genet. 2, 975. |
FD |
288 |
2 |
|
288delGG |
1 |
frameshift at codon 97 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1993) Hum. Mol. Genet. 2, 975. |
S |
265-3 |
1 |
C |
265-3insC |
1 |
loss of splice acceptor site |
sporadic |
unilateral intraocular tumor |
early |
germinal |
Blanquet (1993) Hum. Mol. Genet. 2, 975. |
M |
411 |
1 |
T |
E137D |
1 |
Glu->Asp at codon 137 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1993) Hum. Mol. Genet. 2, 975. |
FI |
554 |
1 |
A |
554insA |
1 |
frameshift at codon 185 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1993) Hum. Mol. Genet. 2, 975. |
S |
540-1 |
1 |
A |
540-1G->A |
1 |
loss of splice acceptor site |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1993) Hum. Mol. Genet. 2, 975. |
FD |
678 |
1 |
|
678delT |
1 |
frameshift at codon 226 |
sporadic |
unilateral intraocular tumor |
early |
germinal |
Blanquet (1993) Hum. Mol. Genet. 2, 975. |
S |
862-10 |
1 |
C |
862-10T->C |
1 |
loss of splice acceptor site |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1993) Hum. Mol. Genet. 2, 975. |
FD |
1707 |
1 |
|
1704delA |
1 |
frameshift at codon 568 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1993) Hum. Mol. Genet. 2, 975. |
S |
1814+11 |
1 |
C |
1814+11T->C |
1 |
loss of splice donor site |
sporadic |
unilateral intraocular tumor |
early |
germinal |
Blanquet (1993) Hum. Mol. Genet. 2, 975. |
N |
296 |
1 |
A |
W99X |
1 |
Trp->Stop at codon 98 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
409 |
1 |
T |
E137X |
1 |
Glu->Stop at codon 137 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
P |
1860 |
1 |
A |
1860G->A |
1 |
no amino acid change |
ND |
ND |
ND |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
751 |
1 |
T |
R251X |
3 |
Arg->Stop at codon 251 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
763 |
1 |
T |
R255X |
1 |
Arg->Stop at codon 255 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
796 |
1 |
T |
Q266X |
1 |
Gln->Stop at codon 266 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
ID |
957 |
2 |
GT |
R320X |
1 |
Arg->Stop at codon 320 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
958 |
1 |
T |
R320X |
1 |
Arg->Stop at codon 320 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
958 |
1 |
T |
R320X |
3 |
Arg->Stop at codon 320 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
1060 |
1 |
T |
Q354X |
1 |
Gln->Stop at codon 354 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
1072 |
1 |
T |
R358X |
4 |
Arg->Stop at codon 358 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
1333 |
1 |
T |
R445X |
3 |
Arg->Stop at codon 445 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
1333 |
1 |
T |
R445X |
1 |
Arg->Stop at codon 445 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
P |
380+10 |
1 |
G |
380+10C->G |
1 |
intron Pism |
ND |
ND |
ND |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
1363 |
1 |
T |
R455X |
1 |
Arg->Stop at codon 455 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
1399 |
1 |
T |
R467X |
1 |
Arg->Stop at codon 467 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
1399 |
1 |
T |
R467X |
2 |
Arg->Stop at codon 467 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
1654 |
1 |
T |
R552X |
1 |
Arg->Stop at codon 552 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
1659 |
1 |
A |
C553X |
1 |
Cys->Stop at codon 553 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
1660 |
1 |
T |
E554X |
1 |
Glu->Stop at codon 554 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
1723 |
1 |
T |
E575X |
1 |
Glu->Stop at codon 575 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
1735 |
1 |
T |
R579X |
1 |
Arg->Stop at codon 579 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
1735 |
1 |
T |
R579X |
3 |
Arg->Stop at codon 579 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
1901 |
1 |
G |
S634X |
1 |
Ser->Stop at codon 634 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
1915 |
1 |
T |
Q639X |
1 |
Gln->Stop at codon 639 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
2184 |
1 |
A |
Y728X |
1 |
Tyr->Stop at codon 728 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
2359 |
1 |
T |
R787X |
3 |
Arg->Stop at codon 787 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
2359 |
1 |
T |
R787X |
1 |
Arg->Stop at codon 787 |
AD |
familial intraocular tumors, and fibrosarcoma |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
2447 |
1 |
G |
S816X |
1 |
Ser->Stop at codon 816 |
sporadic |
bilateral intraocular tumors, and meningioma |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
S |
607+1 |
1 |
T |
607+1G->T |
1 |
loss of splice donor site |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
S |
607+1 |
1 |
C |
607+1G->C |
1 |
loss of splice donor site |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
S |
940-1 |
1 |
C |
940-1G->C |
1 |
loss of splice acceptor site |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
S |
1332+1 |
1 |
A |
1332+1G->A |
1 |
loss of splice donor site |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
S |
1498+5 |
1 |
A |
1498+5G->A |
1 |
loss of splice donor site |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
S |
1695+3 |
1 |
C |
1695+3A->C |
1 |
loss of splice donor site |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
S |
1814+1 |
1 |
C |
1814+1G->C |
1 |
loss of splice donor site |
sporadic |
bilateral intraocular tumors, and leiomyosarcoma |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
FD |
1450 |
2 |
|
1450delAT |
1 |
frameshift at codon 484 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
FD |
1490 |
2 |
|
1490delCA |
1 |
frameshift at codon 497 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
FD |
1534 |
1 |
|
1534delT |
1 |
frameshift at codon 512 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
P |
2212-11 |
1 |
|
2212-11T->A |
1 |
intron Pism |
ND |
ND |
ND |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
N |
763 |
1 |
T |
R255X |
2 |
Arg->Stop at codon 255 |
AD |
familial intraocular tumors |
early |
germinal |
Blanquet (1994) Hum. Mol. Genet. 3, 1185. |
N |
763 |
1 |
T |
R255X |
4 |
Arg->Stop at codon 255 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1994) Hum. Mol. Genet. 3, 1185. |
S |
1696-1 |
1 |
A |
1696-1G->A |
2 |
loss of splice acceptor site |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1994) Hum. Mol. Genet. 3, 1185. |
N |
1735 |
1 |
T |
R579X |
2 |
Arg->Stop at codon 579 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Blanquet (1994) Hum. Mol. Genet. 3, 1185. |
N |
2284 |
1 |
T |
Q762X |
1 |
Gln->Stop at codon 762 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Orsouw (1996) Hum. Mol. Genet. 5, 755. |
N |
1399 |
1 |
T |
R467X |
1 |
Arg->Stop at codon 467 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Orsouw (1996) Hum. Mol. Genet. 5, 755. |
N |
1190 |
1 |
A |
S397X |
1 |
Ser->Stop at codon 397 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Orsouw (1996) Hum. Mol. Genet. 5, 755. |
N |
1735 |
1 |
T |
R579X |
1 |
Arg->Stop at codon 579 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Orsouw (1996) Hum. Mol. Genet. 5, 755. |
N |
763 |
1 |
T |
R255X |
1 |
Arg->Stop at codon 255 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Orsouw (1996) Hum. Mol. Genet. 5, 755. |
M |
1970 |
1 |
C |
L657P |
1 |
Leu->Pro at codon 657 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Orsouw (1996) Hum. Mol. Genet. 5, 755. |
N |
619 |
1 |
T |
Q207X |
1 |
Gln->Stop at codon 207 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Orsouw (1996) Hum. Mol. Genet. 5, 755. |
M |
1072 |
1 |
G |
R358G |
1 |
Arg->Gly at codon 358 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Orsouw (1996) Hum. Mol. Genet. 5, 755. |
M |
1981 |
1 |
T |
R661W |
1 |
Arg->Trp at codon 661 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Orsouw (1996) Hum. Mol. Genet. 5, 755. |
N |
2359 |
1 |
T |
R787X |
1 |
Arg->Stop at codon 787 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Orsouw (1996) Hum. Mol. Genet. 5, 755. |
N |
958 |
1 |
T |
R320X |
1 |
Arg->Stop at codon 320 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Orsouw (1996) Hum. Mol. Genet. 5, 755. |
N |
751 |
1 |
T |
R251X |
1 |
Arg->Stop at codon 251 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Orsouw (1996) Hum. Mol. Genet. 5, 755. |
N |
1333 |
1 |
T |
R445X |
1 |
Arg->Stop at codon 445 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Yandell (1989) N. Engl. J. Med. 321, 1689. |
M |
1700 |
1 |
T |
S567L |
1 |
Ser->Leu at codon 567 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Yandell (1989) N. Engl. J. Med. 321, 1689. |
N |
2359 |
1 |
T |
R787X |
1 |
Arg->Stop at codon 787 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Yandell (1989) N. Engl. J. Med. 321, 1689. |
M |
1981 |
1 |
T |
R661W |
1 |
Arg->Trp at codon 661 |
AD |
low-penetrant familial intraocular tumors |
early |
germinal |
Onadim (1992) Proc. Natl. Acad. Sci. USA 89, 6177. |
M |
2023 |
1 |
T |
Q675X |
1 |
Gln->Stop at codon 675 |
AD |
low-penetrant familial intraocular tumors |
early |
germinal |
Onadim (1992) Proc. Natl. Acad. Sci. USA 89, 6177. |
FI |
195 |
1 |
A |
195insA |
1 |
framesfift at codon 66 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
FD |
401 |
4 |
|
401delTACT |
1 |
Leu->Stop at codon 134 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
DU |
478 |
4 |
TTTG |
479dupTTTG |
1 |
frameshift at codon 160 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
FI |
529 |
5 |
CCCAA |
529insCCCAA |
1 |
frameshift at codon 178 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
FD |
767 |
1 |
|
767delG |
1 |
frameshift at codon 256 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
FD |
777 |
1 |
|
777delG |
1 |
frameshift at codon 260 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
FD |
908 |
1 |
|
908delT |
1 |
frameshift at codon 304 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
FI |
1088 |
1 |
G |
1088insG |
1 |
frameshift at codon 363 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
FD |
1091 |
1 |
|
1091delA |
1 |
frameshift at codon 365 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
FI |
1161 |
1 |
T |
1161insT |
1 |
frameshift at codon 387 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
FD |
1237 |
1 |
|
1237delG |
1 |
frameshift at codon 413 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
FD |
1455 |
4 |
|
1455delTTTA |
1 |
frameshift at codon 486 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
FD |
1501 |
1 |
|
1501delA |
1 |
frameshift at codon 501 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
D |
1618 |
18 |
|
1618del18bp |
1 |
D of GlyAsnLeuThrArgGlu at codons 540-545 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
FI |
1812 |
2 |
GA |
1812insGA |
1 |
frameshift at codon 604 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
FD |
1828 |
2 |
|
1828delGT |
1 |
frameshift at codon 610 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
FD |
1937 |
1 |
|
1937delC |
1 |
frameshift at codon 646 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
S |
1960+1 |
1 |
|
1960+1delG |
1 |
loss of splice donor site |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
FD |
2175 or 2176 |
1 |
|
2175delA |
1 |
frameshift at codon 726 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
FD |
2196 |
1 |
|
2196delT |
1 |
frameshift at codon 733 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
FI |
2201 |
1 |
G |
2201insG |
1 |
frameshift at codon 734 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
D |
2263 |
3 |
|
2263delTTC |
1 |
D of Phe at codon 755 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
FD |
2330 |
1 |
|
2330delC |
1 |
frameshift at codon 777 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
FD |
2415 |
1 |
|
2415delT |
1 |
Tyr->Stop at codon 805 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
FD |
2415 |
1 |
|
2415delT |
1 |
Tyr->Stop at codon 805 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
FD |
2425 |
1 |
|
2415delC |
1 |
Leu->Stop at codon 809 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
S |
2520+1 |
4 |
|
2520+1delGTGA |
1 |
loss of splice donor site |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Mol. Genet. 3, 2187. |
D |
1438 |
3 |
|
1438delAAC |
1 |
D of Asn at codon 480 |
AD |
low-penetrant familial intraocular tumors |
early |
germinal |
Lohmann (1992) Hum. Genet. 89, 49. |
FD |
2051 |
1 |
|
2051delT |
1 |
frameshift at codon 684 |
AD |
familial intraocular tumors |
early |
germinal |
Lohmann (1992) Hum. Genet. 89, 49. |
FD |
2380 |
10 |
|
2380del10bp |
1 |
frameshift at codon 794 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Lohmann (1992) Hum. Genet. 89, 49. |
DU |
703 |
4 |
GTTG |
703dupGTTG |
1 |
frameshift at codon 235 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Szijan (1995) J. Med. Genet. 32, 475. |
N |
1735 |
1 |
C |
R579X |
1 |
Arg->Stop at codon 579 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Szijan (1995) J. Med. Genet. 32, 475. |
FD |
1938 |
2 |
|
1938delTC |
1 |
frameshift at codon 647 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Szijan (1995) J. Med. Genet. 32, 475. |
FD |
2088 |
1 |
|
2088delA |
1 |
frameshift at codon 697 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Szijan (1995) J. Med. Genet. 32, 475. |
N |
751 |
1 |
T |
R251X |
4 |
Arg->Stop at codon 251 |
AD |
familial intraocular tumors |
early |
germinal |
Cowell (1994) Eur. J. Hum. Genet. 2, 281. |
N |
751 |
1 |
T |
R251X |
3 |
Arg->Stop at codon 251 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Cowell (1994) Eur. J. Hum. Genet. 2, 281. |
N |
763 |
1 |
T |
R255X |
1 |
Arg->Stop at codon 255 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Cowell (1994) Eur. J. Hum. Genet. 2, 281. |
N |
958 |
1 |
T |
R320X |
1 |
Arg->Stop at codon 320 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Cowell (1994) Eur. J. Hum. Genet. 2, 281. |
N |
1654 |
1 |
T |
R552X |
4 |
Arg->Stop at codon 552 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Cowell (1994) Eur. J. Hum. Genet. 2, 281. |
N |
1666 |
1 |
T |
R556X |
1 |
Arg->Stop at codon 556 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Cowell (1994) Eur. J. Hum. Genet. 2, 281. |
N |
1735 |
1 |
T |
R579X |
3 |
Arg->Stop at codon 579 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Cowell (1994) Eur. J. Hum. Genet. 2, 281. |
N |
2359 |
1 |
T |
R787X |
1 |
Arg->Stop at codon 787 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Cowell (1994) Eur. J. Hum. Genet. 2, 281. |
M |
1589 |
1 |
G |
K530R |
1 |
Lys->Arg at codon 530 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Cowell (1994) Eur. J. Hum. Genet. 2, 281. |
S |
1039 |
14 |
|
1039del14bp |
1 |
loss of splice donor site |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Cowell (1994) Eur. J. Hum. Genet. 2, 281. |
FD |
1760 |
10 |
|
1760del10bp |
1 |
frameshift at codon 587 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Cowell (1994) Eur. J. Hum. Genet. 2, 281. |
DU |
1737 |
7 |
AGGACCG |
1737dup7 |
1 |
frameshift at codon 580 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Cowell (1994) Eur. J. Hum. Genet. 2, 281. |
S |
1695-1 |
1 |
A |
1695-1G->A |
1 |
loss of splice acceptor site |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Cowell (1994) Eur. J. Hum. Genet. 2, 281. |
M |
2117 |
1 |
A |
C706Y |
1 |
Cys->Tyr at codon 706 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Kato (1994) Hum. Mutat. 3, 44. |
S |
1332+1 |
1 |
T |
1332+1G->T |
1 |
D of exon 13 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Kato (1994) Hum. Mutat. 3, 44. |
D |
|
1.7k |
|
DelEx24 |
1 |
D of exon 24 |
AD |
familial intraocular tumors |
early |
germinal |
Kato (1994) Hum. Mutat. 3, 44. |
D |
|
5.3k |
|
DelEx18-19 |
1 |
D of exons 18 and 19 |
AD |
familial intraocular tumors |
early |
germinal |
Kato (1994) Hum. Mutat. 3, 44. |
DU |
1033 |
55 |
|
duplication of nucleotides 979 to 1033 |
1 |
frameshift at codon 345 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Dunn (1989) Mol. Cell. Biol. 9, 4596. |
FD |
1760 |
10 |
|
1760del10bp |
1 |
frameshift at codon 587 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Dunn (1989) Mol. Cell. Biol. 9, 4596. |
FD |
1949 |
9 |
|
1949del9 |
1 |
Phe->Stop at codon 650 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Dunn (1989) Mol. Cell. Biol. 9, 4596. |
S |
2212-1 |
1 |
A |
2212-1G->A |
1 |
D of exon 22 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Dunn (1989) Mol. Cell. Biol. 9, 4596. |
S |
1215+1 |
1 |
A |
1215+1G->A |
2 |
D of exon 12 |
AD |
unilateral intraocular tumor |
early |
germinal |
Dunn (1989) Mol. Cell. Biol. 9, 4596. |
M |
2117 |
1 |
T |
C706F |
1 |
Cys->Phe at codon 706 |
ND |
small-cell lung cancer |
ND |
ND |
Kaye (1990) Proc. Natl. Acad. Sci. USA 87, 6922. |
FD |
2520 |
1 |
|
2520delG |
1 |
frameshift at codon 841 |
nonhereditary |
bilatertal intraocular tumors |
early |
somatic |
Yandell (1989) N. Engl. J. Med. 321, 1689. |
S |
1960+2 |
1 |
C |
1960+2T->C |
1 |
loss of splice donor site |
nonhereditary |
unilateral intraocular tumor |
early |
somatic |
Yandell (1989) N. Engl. J. Med. 321, 1689. |
FD |
2244 |
1 |
|
2244delG |
1 |
frameshift at codon 748 |
nonhereditary |
unilateral intraocular tumor |
early |
somatic |
Yandell (1989) N. Engl. J. Med. 321, 1689. |
S |
1049+1 |
1 |
T |
1049+1G->T |
1 |
loss of splice donor site |
nonhereditary |
unilateral intraocular tumor |
early |
somatic |
Yandell (1989) N. Engl. J. Med. 321, 1689. |
N |
1072 |
1 |
T |
R358X |
1 |
Arg->Stop at codon 358 |
ND |
intraocular tumor |
early |
ND |
Yandell (1989) N. Engl. J. Med. 321, 1689. |
S |
2107-2 |
1 |
G |
2107-2A->G |
1 |
D of exon 21 |
ND |
bladder cancer |
ND |
ND |
Horowitz (1989) Science 243, 937. |
N |
2242 |
1 |
T |
E748X |
1 |
Glu->Stop at codon 748 |
ND |
small-cell lung cancer |
ND |
ND |
Yandell (1989) N. Engl. J. Med. 321, 1689. |
S |
2106+5 |
1 |
A |
2106+5G->A |
1 |
D of exon 21 |
AD |
familial intraocular tumors, and small-cell lung cancer |
early |
germinal |
Weir-Thompson (1991) Oncogene 6, 2353. |
S |
2211 |
1 |
A |
2211G->A |
1 |
D of exon 21 |
AD |
low-penetrant familial intraocular tumors |
early |
germinal |
Schubert (1997) Hum. Genet. 100, 557. |
PR |
-149 |
1 |
C |
-149G->C |
1 |
promoter mutation |
AD |
low-penetrant familial intraocular tumors |
early |
germinal |
Cowell (1996) Oncogene 12, 431. |
PR |
-189 |
1 |
T |
-189G->T |
1 |
promoter mutation |
AD |
familial unilateral intraocular tumor |
early |
germinal |
Sakai (1991) Nature 353, 83. |
PR |
-198 |
1 |
A |
-198G->A |
1 |
promoter mutation |
AD |
familial intraocular tumors |
early |
germinal |
Sakai (1991) Nature 353, 83. |
FID |
1504 |
21 |
TCTCAAGAAT CTCAAGAATCA |
1504del7bpins21bp |
1 |
frameshift at codon 502 |
sporadic |
bilateral intraocular tumors |
early |
somatic |
Shimizu (1994) Am. J. Hum. Genet. 54, 793. |
S |
1050-2 |
1 |
G |
1050-2A->G |
1 |
loss of splice acceptor site |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Shimizu (1994) Am. J. Hum. Genet. 54, 793. |
S |
1695+6 |
1 |
G |
1695+6T->G |
1 |
loss of splice donor site |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Shimizu (1994) Am. J. Hum. Genet. 54, 793. |
FD |
1330 |
1 |
|
1330delC |
1 |
frameshift at codon 444 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Shimizu (1994) Am. J. Hum. Genet. 54, 793. |
N |
1150 |
1 |
T |
Q384X |
1 |
Gln->Stop at codon 384 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Shimizu (1994) Am. J. Hum. Genet. 54, 793. |
N |
1363 |
1 |
T |
R455X |
1 |
Arg->Stop at codon 455 |
sporadic |
unilateral intraocular tumor |
early |
germinal |
Shimizu (1994) Am. J. Hum. Genet. 54, 793. |
FD |
1236 |
1 |
|
1236delA |
1 |
frameshift at codon 413 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Shimizu (1994) Am. J. Hum. Genet. 54, 793. |
N |
1467 |
1 |
A |
C489X |
1 |
Cys->Stop at codon 489 |
sporadic |
unilateral intraocular tumor |
early |
germinal |
Shimizu (1994) Am. J. Hum. Genet. 54, 793. |
N |
1166 |
1 |
A |
L389X |
1 |
Leu->Stop at codon 389 |
sporadic |
unilateral intraocular tumor |
early |
germinal |
Shimizu (1994) Am. J. Hum. Genet. 54, 793. |
FD |
1939 |
2 |
|
1939delCT |
1 |
frameshift at codon 647 |
sporadic |
unilateral intraocular tumor |
early |
germinal |
Shimizu (1994) Am. J. Hum. Genet. 54, 793. |
D |
|
4k |
|
DelEx24-25 |
1 |
D of codons 830-887 |
AD |
low-penetrant familial intraocular tumors |
early |
germinal |
Bremner (1997) Am. J. Hum. Genet. 61, 556. |
N |
1666 |
1 |
T |
R556X |
1 |
Arg->Stop at codon 556 |
sporadic |
bilateral intraocular and pineal tumors |
early |
germinal |
Onadim (1997) Br. J. Cancer 76, 1405. |
M |
1981 |
1 |
T |
R661W |
2 |
Arg->Trp at codon 661 |
AD |
low-penetrant familial intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Genet. 94, 349. |
D |
380+415 |
4.5k |
|
DelEx4 |
1 |
D of codons 127-166 |
AD |
low-penetrant familial intraocular tumors |
early |
germinal |
Dryja (1993) Am. J. Hum. Genet. 52. 1122. |
FD |
2497 |
1 |
|
2497delG |
1 |
frameshift at codon 833 |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Shimizu (1994) Am. J. Hum. Genet. 54, 793. |
FI |
211 |
1 |
G |
211insG |
1 |
frameshift at codon 71 |
sporadic |
unilateral intraocular tumor |
early |
germinal |
Shimizu (1994) Am. J. Hum. Genet. 54, 793. |
FI |
2311 |
1 |
T |
2311insT |
1 |
frameshift at codon 771 |
sporadic |
unilateral intraocular tumor |
early |
germinal |
Shimizu (1994) Am. J. Hum. Genet. 54, 793. |
DU |
1417 |
4 |
AAAT |
1417dupAAAT |
1 |
frameshift at codon 473 |
sporadic |
unilateral intraocular tumor |
early |
germinal |
Shimizu (1994) Am. J. Hum. Genet. 54, 793. |
P |
1390-17 |
1 |
T |
1390-17insT |
1 |
intron Pism |
ND |
ND |
ND |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
P |
608-24 |
1 |
A |
608-24T->A |
1 |
intron Pism |
ND |
ND |
ND |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
P |
1390-25 |
1 |
G |
1390-25T->G |
1 |
intron Pism |
ND |
ND |
ND |
germinal |
Lohmann (1996) Am. J. Hum. Genet. 58, 940. |
S |
1811 |
1 |
G |
1811A->G |
1 |
loss of splice donor site |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Orsouw (1996) Hum. Mol. Genet. 5, 755. |
S |
1696 |
1 |
A |
1696G->A |
1 |
loss of splice acceptor site |
sporadic |
bilateral intraocular tumors |
early |
germinal |
Orsouw (1996) Hum. Mol. Genet. 5, 755. |
D |
1438 |
3 |
|
1438delAAC |
1 |
D of codon 480 |
AD |
low-penetrant familial intraocular tumors |
early |
germinal |
Lohmann (1994) Hum. Genet. 94, 349. |
N |
763 |
1 |
T |
R255X |
1 |
Arg->Stop at codon 255 |
AD |
familial intraocular tumors, and pinealoblastoma |
early |
germinal |
Blanquet (1994) Hum. Mol. Genet. 3, 1185. |
S |
1216-2 |
1 |
G |
1216-2A->G |
1 |
loss of splice acceptor site |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
M |
1981 |
1 |
T |
R661W |
1 |
Arg->Trp at codon 661 |
sporadic |
unilateral intraocular tumor |
early |
germinal |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
FD |
370 |
2 |
|
370delAT |
1 |
frameshift at codon 123 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
N |
1333 |
1 |
|
R445X |
1 |
Arg->Stop at codon 445 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
S |
1216-1 |
1 |
A |
1216-1G->A |
1 |
loss of splice acceptor site |
sporadic |
unilateral intraocular tumor |
early |
germinal |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
N |
1654 |
1 |
T |
R552X |
1 |
Arg->Stop at codon 552 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
N |
1666 |
1 |
T |
R556X |
1 |
Arg->Stop at codon 556 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
S |
1215+1 |
1 |
A |
1215+1G->A |
2 |
loss of splice donor site |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
S |
380+1 |
1 |
T |
380+1G->T |
1 |
loss of splice donor site |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
N |
2158 |
1 |
T |
K720X |
1 |
Lys->Stop at codon 720 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
N |
409 |
1 |
T |
E137X |
1 |
Glu->Stop at codon 137 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
N |
2359 |
1 |
T |
R787X |
1 |
Arg->Stop at codon 787 |
sporadic |
unilateral intraocular tumor |
early |
germinal |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
M |
411 |
1 |
T |
E137D |
1 |
Glu->Asp at codon 137 |
sporadic |
unilateral intraocular tumor |
early |
germinal |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
S |
1332 |
1 |
A |
1332G->A |
1 |
loss of splice donor site |
sporadic |
unilateral intraocular tumor |
early |
germinal |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
N |
958 |
1 |
T |
R320X |
1 |
Arg->Stop at codon 320 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
N |
1735 |
1 |
T |
R579X |
1 |
Arg->Stop at codon 579 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
N |
184 |
1 |
T |
Q62X |
1 |
Gln->Stop at codon 62 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
N |
1654 |
1 |
T |
R552X |
1 |
Arg->Stop at codon 552 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
S |
1960+1 |
1 |
A |
1960+1G->A |
1 |
loss of splice donor site |
sporadic |
multifocal unilateral intraocular tumors |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
N |
409 |
1 |
T |
E137X |
1 |
Glu->Stop at codon 137 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
FD |
1735 |
10 |
|
1735del10bp |
1 |
frameshift at codon 579 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
N |
1363 |
1 |
T |
R455X |
1 |
Arg->Stop at codon 455 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
FD |
1447 |
2 |
|
1447delCA |
1 |
frameshift at codon 483 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
N |
958 |
1 |
T |
R320X |
1 |
Arg->Stop at codon 320 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
FD |
2084 |
1 |
|
2084delT |
1 |
frameshift at codon 695 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
FD |
336 |
5 |
|
336del5 |
1 |
frameshift at codon 112 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
N |
958 |
1 |
T |
R320X |
1 |
Arg->Stop at codon 320 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
N |
1666 |
1 |
T |
R556X |
1 |
Arg->Stop at codon 556 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
N |
751 |
1 |
T |
R251X |
1 |
Arg->Stop at codon 251 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
N |
958 |
1 |
T |
R320X |
1 |
Arg->Stop at codon 320 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
FI |
1585 |
1 |
T |
1585insT |
1 |
frameshift at codon 529 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
FD |
1723 |
4 |
|
1723del4 |
1 |
frameshift at codon 575 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
FI |
1816 |
1 |
T |
1816insT |
1 |
frameshift at codon 606 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
FD |
227 |
1 |
|
227delT |
1 |
termination at codon 76 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
N |
958 |
1 |
T |
R320X |
1 |
Arg->Stop at codon 320 |
sporadic |
unilateral intraocular tumor |
early |
germinal |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
N |
1072 |
1 |
T |
R358X |
1 |
Arg->Stop at codon 358 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |
N |
1494 |
1 |
A |
Y498X |
1 |
Tyr->Stop at codon 498 |
sporadic |
unilateral intraocular tumor |
early |
somatic |
Lohmann (1997) Am. J. Hum. Genet. 61, 282. |