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+?/? |
g. 1867-1871 |
delTGACG |
Deletion |
- |
- |
- |
- |
silent |
RB1_02120 |
germline |
KVM60 |
bilateral rb |
germline |
blood |
DNA |
unknown |
isolated |
Viet Nam:Hanoi |
1 |
unpublished |
- |
?/? |
g.195insCTGATA |
c.-1865_1864insCTGATA |
complex |
00_up |
- |
variant |
- |
variant |
RB1_00991 |
- |
not provided |
no cancer |
germline |
blood |
DNA |
- |
- |
Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. |
1 |
published |
- |
?/? |
g.198del |
c.-1862del |
deletion |
00_up |
- |
variant |
- |
variant |
RB1_00992 |
- |
not provided |
no cancer |
germline |
blood |
DNA |
- |
- |
dbSNP |
1 |
published |
Originally reported:
Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. |
?/? |
g.371C>A |
c.-1689C>A |
substitution |
00_up |
- |
variant |
- |
variant |
RB1_00993 |
- |
not provided |
no cancer |
germline |
blood |
DNA |
- |
- |
Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. |
1 |
published |
- |
?/? |
g.605T>C |
c.-1455T>C |
substitution |
00_up |
- |
variant |
- |
variant |
RB1_00994 |
- |
not provided |
no cancer |
germline |
blood |
DNA |
- |
- |
Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. |
1 |
published |
- |
?/? |
g.605T>C |
c.-1455T>C |
substitution |
00_up |
- |
variant |
- |
variant |
RB1_00994 |
germline |
not provided |
- |
unknown |
blood |
DNA |
unknown |
unknown |
dbSNP |
1 |
- |
- |
?/? |
g.914C>T |
c.-1146C>T |
substitution |
00_up |
- |
variant |
- |
variant |
RB1_00995 |
- |
not provided |
no cancer |
germline |
blood |
DNA |
- |
- |
Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. |
1 |
published |
- |
?/? |
g.1023G>A |
c.-1037G>A |
substitution |
00_up |
- |
variant |
- |
variant |
RB1_00996 |
- |
not provided |
no cancer |
germline |
blood |
DNA |
- |
- |
Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. |
1 |
published |
- |
?/? |
g.1219C>T |
c.-841C>T |
substitution |
00_up |
- |
variant |
- |
variant |
RB1_00997 |
- |
not provided |
no cancer |
germline |
blood |
DNA |
- |
- |
dbSNP |
1 |
published |
originally reported: Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409 |
?/? |
g.1282C>T |
c.-778C>T |
substitution |
00_up |
- |
variant |
- |
variant |
RB1_00998 |
- |
not provided |
no cancer |
germline |
blood |
DNA |
- |
- |
dbSNP |
1 |
published |
originally published: Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. |
?/? |
g.1328A>C |
c.-732A>C |
substitution |
00_up |
- |
variant |
- |
variant |
RB1_00999 |
- |
not provided |
no cancer |
germline |
blood |
DNA |
- |
- |
Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. |
1 |
published |
- |
?/? |
g.1409A>G |
c.-651A>G |
substitution |
00_up |
- |
variant |
- |
variant |
RB1_01000 |
- |
not provided |
no cancer |
germline |
blood |
DNA |
- |
- |
dbSNP |
1 |
published |
originally reported: Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. |
?/? |
g.1565T>C |
c.-495T>C |
substitution |
00_up |
- |
- |
- |
- |
RB1_01350 |
- |
not provided |
unilateral rb |
germline |
blood |
DNA |
- |
- |
- |
1 |
unpublished |
- |
?/? |
g.1565T>C |
c.-495T>C |
substitution |
00_up |
- |
- |
- |
- |
RB1_01350 |
- |
not provided |
unilateral rb |
germline |
blood |
DNA |
- |
familial lp |
- |
1 |
unpublished |
- |
?/? |
g.1601C>T |
c.-459C>T |
substitution |
00_up |
- |
variant |
- |
variant |
RB1_01001 |
- |
not provided |
no cancer |
germline |
blood |
DNA |
- |
- |
dbSNP |
1 |
published |
originally reported by Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. |
?/? |
g.1718C>T |
c.-342C>T |
substitution |
00_up |
- |
variant |
- |
variant |
RB1_00953 |
- |
Fam539 |
bilateral rb |
somatic |
nd |
DNA |
- |
isolated |
not reported, BL Gallie - Toronto rs4151418 |
1 |
unpublished |
- |
?/? |
g.1766T>C |
c.-294T>C |
Substitution |
00_up |
regulatory |
- |
- |
unknown |
RB1_01670 |
germline |
unilat_fam_29 |
unilateral rb |
germline |
blood |
DNA |
- |
familial |
not reported - Diana Rushlow, Gallie:Toronto |
1 |
unpublished |
- |
-?/? |
g.1772C>T |
c.-288C>T |
Substitution |
00_up |
regulatory |
- |
- |
unknown |
RB1_01855 |
unknown |
family 2136 |
bilateral rb |
unknown |
nd |
DNA |
- |
isolated |
Gallie:Toronto |
1 |
unpublished |
- |
?/? |
g.1811_1913del |
c.-249_147del |
deletion |
00_up |
- |
- |
- |
- |
RB1_01304 |
- |
tumor 7 |
other cancer |
somatic |
prostate carcinoma cells |
DNA |
heterozygous |
- |
Bookstein et al., 1990 |
1 |
published |
prostate carcinoma |
?/? |
g.1848G>A |
c.-212G>A |
substitution |
00_up |
- |
- |
- |
promoter |
RB1_00926 |
- |
Fam35 |
bilateral rb |
germline |
nd |
DNA |
- |
isolated |
Richter et al. (2003) Am J Hum Genet 72(2): 253-69. |
1 |
published |
- |
?/? |
g.1854_1871del |
c.-206_-189del |
deletion |
00_up |
- |
- |
- |
- |
RB1_00927 |
- |
Fam384 |
bilateral rb |
germline |
nd |
DNA |
- |
not reported |
Richter et al. (2003) Am J Hum Genet 72(2): 253-69. |
1 |
published |
- |
?/? |
g.1862G>A |
c.-198G>A |
substitution |
00_up |
- |
SP1-recognition |
- |
promoter |
RB1_00018 |
- |
family 229 |
rb |
germline |
blood |
DNA |
not reported |
familial lp |
Sakai et al., 1991 |
1 |
published |
- |
?/? |
g.1862G>A |
c.-198G>A |
substitution |
00_up |
- |
SP1-recognition |
- |
promoter |
RB1_00018 |
- |
3 |
unilateral rb |
germline |
blood |
DNA |
not reported |
isolated |
Zajaczek et al., 1998 |
1 |
published |
- |
?/? |
g.1862G>A |
c.-198G>A |
substitution |
00_up |
- |
SP1-recognition |
- |
promoter |
RB1_00018 |
- |
E635 |
bilateral rb |
germline |
blood |
DNA |
unknown |
familial |
Lohmann - Essen |
1 |
unpublished |
- |
?/? |
g.1862G>A |
c.-198G>A |
substitution |
00_up |
- |
SP1-recognition |
- |
promoter |
RB1_00018 |
- |
E1696 |
- |
germline |
nd |
DNA |
- |
familial |
Lohmann - Essen |
1 |
unpublished |
- |
?/? |
g.1862G>A |
c.-198G>A |
substitution |
00_up |
- |
SP1-recognition |
- |
promoter |
RB1_00018 |
- |
case 3 |
unilateral rb |
germline |
blood |
DNA |
- |
isolated |
Zajaczek et al. (1999) Eur J Cancer 35(13):1824 |
1 |
published |
- |
?/? |
g.1863G>A |
c.-197G>A |
substitution |
00_up |
- |
- |
- |
promoter |
RB1_00928 |
- |
Fam550 |
bilateral rb |
germline |
nd |
DNA |
- |
familial |
not reported, BL Gallie - Toronto |
1 |
unpublished |
- |
?/? |
g.1863_1864delinsTT |
c.-197_-196delinsTT |
complex |
00_up |
- |
SP1-recogn |
- |
promoter |
RB1_00470 |
germline |
E2836 |
bilateral rb |
germline |
nd |
DNA |
hemi/homozygous |
isolated |
Lohmann - Essen |
1 |
unpublished |
- |
?/? |
g.1867T>A |
c.-193T>A |
substitution |
00_up |
- |
promotor |
- |
promoter |
RB1_01326 |
- |
F4289 |
rb |
germline |
blood |
DNA |
- |
familial |
Taylor et al. (2007) Hum Mutat 28: 284 |
1 |
published |
- |
?/? |
g.1867T>G |
c.-193T>G |
substitution |
00_up |
- |
- |
- |
promoter |
RB1_01294 |
- |
F5768 |
rb |
germline |
blood |
DNA |
- |
familial |
Taylor et al. (2007) Hum Mutat 28: 284 |
1 |
published |
- |
?/? |
g.1871G>T |
c.-189G>T |
substitution |
00_up |
- |
ATF-recognition |
- |
promoter |
RB1_00017 |
- |
family 172 |
unilateral rb |
germline |
blood |
DNA |
not reported |
familial lp |
Sakai et al., 1991 |
1 |
published |
- |
?/? |
g.1871G>T |
c.-189G>T |
substitution |
00_up |
- |
ATF-recognition |
- |
promoter |
RB1_00017 |
- |
Fam36 |
unilateral rb |
germline |
nd |
DNA |
- |
familial |
Richter et al. (2003) Am J Hum Genet 72(2): 253-69. |
1 |
published |
- |
?/? |
g.1910G>C |
c.-150G>C |
substitution |
00_up |
- |
SP1-recognition |
- |
promoter |
RB1_00022 |
- |
family S |
rb |
germline |
blood |
DNA |
not reported |
familial lp |
Cowell et al., 1996 |
1 |
published |
- |
?/? |
g.2056C>G |
c.-4C>G |
substitution |
00_up |
- |
- |
- |
- |
RB1_01370 |
- |
not provided |
bilateral rb |
germline |
blood |
DNA |
- |
isolated |
Barbosa et al. (2009), BMC Med Genet; 10: 75. |
1 |
published |
- |
?/? |
g.2060A>G |
c.1A>G |
Substitution |
01_ex |
- |
p.Met1Val |
Met1Val |
unknown |
RB1_01443 |
- |
11 |
retinoblastoma |
- |
blood |
DNA |
- |
familial |
- |
1 |
unpublished |
Caucasion patient, Father affected |
?/? |
g.2060A>G |
c.1A>G |
Substitution |
01_ex |
- |
p.Met1Val |
Met1Val |
unknown |
RB1_01443 |
- |
1576 |
unilateral rb |
germline |
blood |
DNA |
- |
- |
- |
1 |
unpublished |
No tumor. Destroys translation initiation codon. Unilaterally affected father (proband) and very young son (unknown phenotype) carry mutation in blood |
?/? |
g.2062G>C |
c.3G>C |
Substitution |
01_ex |
- |
p.Met1Ile |
[Met1Ile] |
unknown |
RB1_01455 |
- |
nd |
retinoblastoma |
- |
nd |
DNA |
- |
familial low penetrance |
- |
1 |
- |
Found in low penetrance rb family: 2 unilateral rb and 4 unaffected carriers |
+/+ |
- |
c.14_24del |
Deletion |
01_ex |
- |
p.Thr5Asnfs*22 |
- |
frameshift |
RB1_01961 |
germline |
fam-no_19931734 |
retinoblastoma |
germline |
blood |
DNA |
unknown |
familial |
Dommering et al. 2014, Germany:Essen |
1 |
published |
Incomplete penetrance (DER: 1.0) |
?/+ |
g.2077_2095del |
c.18_36del |
deletion |
01_ex |
- |
- |
- |
frameshift |
RB1_00834 |
- |
Fam672 |
bilateral rb |
germline |
nd |
DNA |
- |
isolated |
not reported, BL Gallie - Toronto |
1 |
unpublished |
- |
?/? |
g.2078del |
c.19C>T |
Substitution |
01_ex |
- |
p.Arg7X |
- |
nonsense |
RB1_01672 |
germline |
ge_uni_iso_tu_2 |
unilateral rb |
germline |
blood |
DNA |
- |
isolated |
not reported - Diana Rushlow, Gallie:Toronto |
1 |
unpublished |
- |
?/+ |
g.2078del |
c.19del |
deletion |
01_ex |
- |
- |
- |
frameshift |
RB1_01208 |
- |
SR25 |
unilateral rb |
germline |
blood |
DNA |
- |
isolated |
Kontic et al. (2006) J Hum Genet 51:909 |
1 |
published |
- |
?/? |
g.2078delCGAinsGG |
c.19delCGAinsGG |
Other/Complex |
01_ex |
- |
- |
- |
frameshift |
RB1_01667 |
germline |
unilat_fam_2 |
unilateral rb |
germline |
blood |
DNA |
- |
familial |
not reported - Diana Rushlow, Gallie:Toronto |
1 |
unpublished |
- |
?/+ |
g.2078dup |
c.19dup |
insertion |
01_ex |
- |
- |
- |
frameshift |
RB1_00449 |
- |
Fam393 |
bilateral rb |
germline |
nd |
DNA |
- |
isolated |
Richter et al. (2003) Am J Hum Genet 72(2): 253-69. |
1 |
published |
- |
?/+ |
g.2078dup |
c.19dup |
insertion |
01_ex |
- |
- |
- |
frameshift |
RB1_00449 |
- |
not provided |
- |
germline |
nd |
DNA |
- |
familial |
Lohmann - Essen |
1 |
unpublished |
- |
?/+ |
g.2078dup |
c.19dup |
insertion |
01_ex |
- |
- |
- |
frameshift |
RB1_00449 |
- |
not provided |
bilateral rb |
germline |
nd |
DNA |
hemi/homozygous |
isolated |
Lohmann - Essen |
1 |
unpublished |
- |
?/+ |
g.2078dup |
c.19dup |
insertion |
01_ex |
- |
- |
- |
frameshift |
RB1_00449 |
- |
Fam805 |
bilateral rb |
germline |
nd |
DNA |
- |
isolated |
not reported, BL Gallie - Toronto |
1 |
unpublished |
- |
?/? |
g.2078dup |
c.19dup |
insertion |
01_ex |
- |
- |
- |
frameshift |
RB1_00449 |
- |
11050 |
bilateral rb |
unknown |
nd |
DNA |
unknown |
- |
Munier - Lausanne |
1 |
- |
Mutation not found in parents or brother |
+/? |
g.2078dup |
c.19dup |
Duplication |
01_ex |
- |
p.(Arg7Profs*24) |
- |
frameshift |
RB1_00449 |
germline |
RB45 |
unilateral rb |
germline |
blood |
DNA |
- |
familial |
mohdkhairulnizam, Malaysia:Kuala Lumpur |
1 |
published |
- |
?/+ |
g.2078_2080delinsGG |
c.19_21delinsGG |
complex |
01_ex |
- |
- |
- |
frameshift |
RB1_00839 |
- |
Fam462 |
unilateral rb |
somatic |
retinoblastoma |
DNA |
- |
familial |
Richter et al. (2003) Am J Hum Genet 72(2): 253-69. |
1 |
published |
- |
?/? |
g.2078_2080delinsGG |
c.19_21delinsGG |
complex |
01_ex |
- |
- |
- |
frameshift |
RB1_00839 |
germline |
nd |
no cancer |
germline |
blood |
DNA |
- |
- |
- |
1 |
- |
Unaffected carrier. Three generations of family have Rb |
?/+ |
g.2079dup |
c.20dup |
insertion |
01_ex |
- |
p.(Thr9Asnfs*22) |
- |
frameshift |
RB1_00340 |
germline |
E2335 |
bilateral rb |
germline |
nd |
DNA |
heterozygous |
isolated |
Lohmann - Essen |
1 |
unpublished |
- |
?/+ |
g.2080dup |
c.20dup |
insertion |
01_ex |
- |
- |
- |
frameshift |
RB1_00849 |
- |
Fam728 |
bilateral rb |
germline |
nd |
DNA |
- |
isolated |
not reported, BL Gallie - Toronto |
1 |
unpublished |
- |
?/? |
g.2080insG |
c.21insG |
Insertion |
01_ex |
- |
- |
- |
frameshift |
RB1_01583 |
germline |
bilateral_8 |
bilateral rb |
germline |
blood |
DNA |
heterozygous |
isolated |
not reported - Diana Rushlow, Gallie:Toronto |
1 |
unpublished |
- |
?/+ |
g.2083_2114del |
c.24_55del |
deletion |
01_ex |
- |
- |
- |
frameshift |
RB1_00858 |
- |
Fam82 |
bilateral rb |
germline |
nd |
DNA |
- |
isolated |
Richter et al. (2003) Am J Hum Genet 72(2): 253-69. |
1 |
published |
- |
?/-? |
g.2090_2092dupGCC |
c.31_33dupGCC |
Duplication |
01_ex |
- |
p.Ala11dup |
Ala11dup |
unknown |
RB1_01447 |
- |
1275 |
unilateral rb |
- |
blood |
DNA |
- |
- |
- |
1 |
unpublished |
Tumor shows homozygous IVS22+1G>T (c.2325+1G>T), not in blood.
Blood has hetero c.31_33dupGCC ; tumor does not |
+/+ |
g.2091_2122del |
c.32_63del |
Deletion |
01_ex |
- |
p.(Ala11Glyfs*9) |
- |
frameshift |
RB1_00724 |
somatic |
E5712 |
unilateral rb |
somatic |
retinoblastoma |
DNA |
heterozygous |
isolated |
Lohmann, Germany:Essen |
1 |
unpublished |
- |
+/+ |
g.2091_2122del |
c.32_63del |
Deletion |
01_ex |
- |
p.(Ala11Glyfs*9) |
- |
frameshift |
RB1_00724 |
germline |
E3962 |
bilateral rb |
germline |
blood |
DNA |
unknown |
isolated |
Lohmann, Germany:Essen |
1 |
unpublished |
- |
?/? |
g.2099dup |
c.40dup |
Insertion |
1_ex |
- |
p.(Ala14Glyfs*17) |
- |
frameshift |
RB1_02017 |
germline |
P_20140723_20 |
bilateral rb |
germline |
blood |
DNA |
unknown |
isolated |
Houdayer - Paris |
1 |
unpublished |
- |
?/? |
g.2101C>T |
c.42C>T |
substitution |
01_ex |
- |
p.Ala14Ala |
Ala14Ala |
variant |
RB1_00023 |
- |
GOS19 |
unilateral rb |
somatic |
retinoblastoma |
DNA |
- |
- |
Hogg et al., 1993 |
1 |
published |
- |
?/? |
g.2101C>T |
c.42C>T |
substitution |
01_ex |
- |
p.Ala14Ala |
Ala14Ala |
variant |
RB1_00023 |
- |
not provided |
bilateral rb |
germline |
blood |
DNA |
- |
isolated |
Nichols et al. (2005) Hum Mutat 25(6): 566-74. |
1 |
published |
- |
?/? |
g.2101C>T |
c.42C>T |
substitution |
01_ex |
- |
p.Ala14Ala |
Ala14Ala |
variant |
RB1_00023 |
- |
156 |
unilateral rb |
- |
blood |
DNA |
- |
- |
- |
1 |
unpublished |
Hetero in blood. No tumor available. Previously found by DL in uni proband and father?s blood but not in homozygous tumor; CD found this in two bilateral patients with known null mutations. |
?/? |
g.2101C>T |
c.42C>T |
substitution |
01_ex |
- |
p.Ala14Ala |
Ala14Ala |
variant |
RB1_00023 |
- |
nd |
bilateral rb |
- |
nd |
DNA |
- |
familial |
- |
1 |
- |
Remarks: see RBWiki |
?/? |
g.2102_2124del |
c.43_65del |
deletion |
01_ex |
- |
- |
- |
- |
RB1_01336 |
- |
RB-203/fRB-35 |
unilateral rb |
germline |
blood |
DNA |
- |
familial |
Sanchez-Sanchez et al. (2007) Hum Mutat 28: 159 |
1 |
published |
- |
?/? |
g.2104ins23 |
c.45_46ins23 |
insertion |
01_ex |
- |
- |
- |
- |
RB1_00864 |
- |
Fam362 |
bilateral rb |
germline |
nd |
DNA |
- |
familial |
Richter et al. (2003) Am J Hum Genet 72(2): 253-69. |
1 |
published |
- |
-/- |
g.2104_2112del |
c.45_53del |
deletion |
01_ex |
- |
p.Ala16_Ala18del |
[Ala16_Ala18del] |
in-frame |
RB1_00957 |
- |
Fam436 |
unilateral rb |
germline |
retinoblastoma |
DNA |
- |
isolated |
not reported, BL Gallie - Toronto |
1 |
unpublished |
- |
-/- |
g.2104_2112del |
c.45_53del |
deletion |
01_ex |
- |
p.Ala16_Ala18del |
Ala16_Ala18del |
in-frame |
RB1_00957 |
- |
FAM36 |
unilateral rb |
- |
blood |
DNA |
unknown |
familial |
not reported, BL Gallie - Toronto |
1 |
unpublished |
The 9bp exon 1 del did not segregate with disease in family |
-/- |
g.2104_2112del |
c.45_53del |
deletion |
01_ex |
- |
p.Ala16_Ala18del |
Ala16_Ala18del |
in-frame |
RB1_00957 |
- |
Fam910 |
unilateral rb |
germline |
blood + tumor |
DNA |
unknown |
isolated |
not reported, BL Gallie - Toronto |
1 |
unpublished |
Tumor results: Homozy. IVS1+2T>A, Homoz c.45_53del
Blood: Het c.45_53del only |
?/? |
g.2104_2112del |
c.45_53del |
deletion |
01_ex |
- |
p.Ala16_Ala18del |
Ala16_Ala18del |
in-frame |
RB1_00957 |
- |
Fam1085 |
unilateral rb |
- |
blood |
DNA |
- |
isolated |
not reported, BL Gallie - Toronto |
1 |
unpublished |
- |
-/- |
g.2104_2112del |
c.45_53del |
deletion |
01_ex |
- |
p.Ala16_Ala18del |
- |
in-frame |
RB1_00957 |
- |
Fam1153 |
unilateral rb |
- |
blood |
DNA |
- |
isolated |
not reported, BL Gallie - Toronto |
1 |
- |
Tumor did not show the c.45-53del but showed homozygous promoter hypermethylation |
-/- |
g.2104_2112del |
c.45_53del |
deletion |
01_ex |
- |
p.Ala16_Ala18del |
Ala16_Ala18del |
in-frame |
RB1_00957 |
- |
Fam1187 |
unilateral rb |
- |
blood + tumor |
DNA |
heterozygous |
isolated |
not reported, BL Gallie - Toronto |
1 |
unpublished |
Tumor showed het IVS19-1G>C and het c.1981C>T and het c.45_53del, blood and tumor showed hetero c.45_53del9 |
?/-? |
g.2104_2112del |
c.45_53del |
deletion |
01_ex |
- |
p.Ala16_Ala18del |
Ala16_Ala18del |
in-frame |
RB1_00957 |
- |
nd |
unilateral rb |
- |
nd |
DNA |
- |
isolated |
- |
1 |
- |
Remarks. see RBWiki |
?/+ |
g.2104_2129del |
c.45_70del |
deletion |
01_ex |
- |
p.Glu19Profs*3 |
- |
frameshift |
RB1_00318 |
germline |
E2076 |
bilateral rb |
germline |
nd |
DNA |
- |
isolated |
Lohmann - Essen |
1 |
unpublished |
- |
?/? |
g.2104_2032del |
c.45_73del |
Deletion |
1_ex |
- |
p.(Ala18Profs*3) |
- |
unknown |
RB1_02019 |
germline |
P_20140723_27 |
bilateral rb |
germline |
blood |
DNA |
unknown |
isolated |
Houdayer - Paris |
1 |
unpublished |
- |
+/+ |
g.2104_2135del |
c.45_76del |
Deletion |
01_ex |
- |
p.Ala17Profs*3 |
- |
frameshift |
RB1_01409 |
unknown |
E5365 |
unilateral rb |
germline |
blood |
DNA |
heterozygous |
isolated |
Lohmann, Germany:Essen |
1 |
unpublished |
- |
?/+ |
g.2104_2138dup |
c.45_78dup |
insertion |
01_ex |
- |
p.Pro27Cysfs*15 |
- |
frameshift |
RB1_01324 |
unknown |
F3148 |
rb |
germline |
blood |
DNA |
- |
familial |
Taylor et al. (2007) Hum Mutat 28: 284 |
1 |
published |
- |
?/+ |
g.2104_2139del |
c.45_79del |
deletion |
01_ex |
- |
- |
- |
frameshift |
RB1_00422 |
germline |
E2882 |
bilateral rb |
germline |
nd |
DNA |
- |
isolated |
Lohmann - Essen |
1 |
unpublished |
- |
?/? |
g.2104_2139del |
c.45_79del |
deletion |
01_ex |
- |
- |
- |
frameshift |
RB1_00422 |
somatic |
LB647-SCLC |
- |
somatic |
nd |
DNA |
- |
- |
COSMIC - COSM29200 |
1 |
- |
- |
?/? |
g.2104_2038dup |
c.45_79dup |
Insertion |
1_ex |
- |
p.(Pro27Leufs*50) |
- |
unknown |
RB1_02018 |
germline |
P_20140723_22 |
unilateral rb |
germline |
blood |
DNA |
unknown |
familial |
Houdayer - Paris |
1 |
unpublished |
- |
+/? |
- |
c.46_65dup |
Duplication |
01_ex |
- |
p.Pro25Argfs*47 |
- |
frameshift |
RB1_01962 |
germline |
fam-no_20011821 |
retinoblastoma |
germline |
blood |
DNA |
unknown |
isolated |
Dommering et al. 2014, Germany:Essen |
1 |
published |
- |
?/+ |
g.2106_2125del |
c.47_66del |
deletion |
01_ex |
- |
- |
- |
frameshift |
RB1_00563 |
- |
not provided |
unilateral rb |
somatic |
retinoblastoma |
DNA |
- |
- |
Nichols et al. (2005) Hum Mutat 25(6): 566-74. |
1 |
published |
- |
-?/- |
g.2111_2139dup |
c.52_80dup |
Duplication |
01_ex |
- |
- |
- |
unknown |
RB1_01775 |
germline |
ge_un_is_notu3 |
no cancer |
germline |
blood |
DNA |
- |
isolated |
not reported - Diana Rushlow, Gallie:Toronto |
1 |
unpublished |
- |
+/+ |
g.2113_2135del |
c.54_76del |
Deletion |
01_ex |
- |
p.(Glu19Alafs*4) |
- |
frameshift |
RB1_01858 |
somatic |
E5961 |
unilateral rb |
somatic |
retinoblastoma |
DNA |
heterozygous |
isolated |
Lohmann, Germany:Essen |
1 |
unpublished |
- |
?/? |
g.2113_2135dup |
c.54_76dup |
Insertion |
1_ex |
- |
p.(Pro26Argfs*47) |
- |
unknown |
RB1_02020 |
germline |
P_20140723_33 |
unilateral rb |
germline |
blood |
DNA |
unknown |
isolated |
Houdayer - Paris |
1 |
unpublished |
- |
?/+ |
g.2113_2138del |
c.54_79del |
deletion |
01_ex |
- |
p.(Glu19Profs*3) |
- |
frameshift |
RB1_00360 |
germline |
E2147 |
unilateral rb |
germline |
nd |
DNA |
heterozygous |
familial |
Lohmann - Essen |
1 |
unpublished |
- |
?/+ |
g.2114del |
c.55del |
deletion |
01_ex |
- |
p.Glu19Asnfs*46 |
- |
frameshift |
RB1_01209 |
unknown |
F5701 |
rb |
germline |
blood |
DNA |
- |
familial lp |
Taylor et al. (2007) Hum Mutat 28: 284 |
1 |
published |
- |
?/? |
g.2117delC |
c.58delC |
Deletion |
01_ex |
- |
- |
- |
frameshift |
RB1_01666 |
germline |
unilat_fam_1 |
unilateral rb |
germline |
blood |
DNA |
- |
familial |
not reported - Diana Rushlow, Gallie:Toronto |
1 |
unpublished |
- |
?/? |
g.2118C>T |
c.59C>T |
substitution |
01_ex |
- |
p.Pro20Leu |
Pro20Leu |
missense |
RB1_00493 |
- |
not provided |
unilateral rb |
germline |
blood |
DNA |
- |
isolated |
Houdayer et al. (2004) Hum Mutat 23(2): 193-202. |
1 |
published |
- |
?/? |
g.2118C>T |
c.59C>T |
substitution |
01_ex |
- |
p.Pro20Leu |
Pro20Leu |
missense |
RB1_00493 |
- |
2u |
unilateral rb |
germline |
blood |
DNA |
- |
familial lp |
Brichard et al. 2006,Eur J Cancer. 2006 Jan;42(1):65-72 |
1 |
published |
- |
?/? |
g.2118C>T |
c.59C>T |
substitution |
01_ex |
- |
p.Pro20Leu |
Pro20Leu |
missense |
RB1_00493 |
- |
BG#519 (619) |
unilateral rb |
- |
nd |
DNA |
- |
isolated |
Richter et al. (2003) Am J Hum Genet. 2003 Feb; 72(2): 253-69 |
1 |
published |
Tumor w/ het c.2536insC, het. promoter methyl + het Pro20Leu, blood only Pro20Leu
|
?/? |
g.2118_2130del |
c.59_71del |
Deletion |
01_ex |
- |
- |
- |
unknown |
RB1_01587 |
germline |
bilateral_16 |
bilateral rb |
germline |
blood |
DNA |
- |
isolated |
not reported - Diana Rushlow, Gallie:Toronto |
1 |
unpublished |
unaff father carries mut
|
?/? |
g.2120_2133 |
c.61_74del |
Deletion |
01_ex |
- |
p.Pro21Alafs*5 |
- |
frameshift |
RB1_01518 |
somatic |
CAL-85-1 |
- |
somatic |
nd |
DNA |
- |
- |
COSMIC - COSM27171 |
1 |
- |
- |
?/+ |
g.2121del |
c.62del |
deletion |
01_ex |
- |
p.Pro21Argfs*43 |
- |
frameshift |
RB1_00646 |
unknown |
Fam228 |
unilateral rb |
germline |
nd |
DNA |
- |
familial |
Richter et al. (2003) Am J Hum Genet 72(2): 253-69. |
1 |
published |
- |
?/+ |
g.2121del |
c.62del |
deletion |
01_ex |
- |
p.Pro21Argfs*43 |
- |
frameshift |
RB1_00646 |
unknown |
12 |
unilateral rb |
germline |
blood |
DNA |
- |
familial |
Sampieri et al. (2006) J Hum Genet 51: 209 |
1 |
published |
- |
+/? |
- |
c.62dup |
Duplication |
01_ex |
- |
p.Ala22Glyfs*9 |
- |
frameshift |
RB1_01963 |
germline |
fam-no_20061482 |
retinoblastoma |
germline |
blood |
DNA |
unknown |
isolated |
Dommering et al. 2014, Germany:Essen |
1 |
published |
Previously reported in Dommering et al. 2012 |
?/? |
g.2121_2122insG |
c.64dup |
Insertion/Deletion |
01_ex |
- |
p.Ala22Glyfs*9 |
- |
unknown |
RB1_01517 |
unknown |
rs34437965 |
- |
- |
nd |
DNA |
- |
- |
dbSNP |
1 |
- |
- |
?/? |
g.2124C>A |
c.65C>A |
substitution |
01_ex |
- |
p.Ala22Glu |
Ala22Glu |
unknown |
RB1_01377 |
- |
not provided |
bilateral rb |
- |
retinoblastoma |
DNA |
heterozygous |
- |
- |
1 |
unpublished |
- |
?/+ |
g.2124del |
c.65del |
deletion |
01_ex |
- |
p.Ala22Aspfs*43 |
- |
frameshift |
RB1_01362 |
unknown |
RB-68 |
bilateral rb |
germline |
blood |
DNA |
- |
- |
- |
1 |
published |
- |
?/+ |
g.2124delinsGA |
c.65delinsGA |
complex |
01_ex |
- |
- |
- |
nonsense |
RB1_00463 |
germline |
E3372 |
bilateral rb |
germline |
nd |
DNA |
- |
not reported |
Lohmann - Essen |
1 |
unpublished |
- |
?/? |
g.2124_2125delins20 |
c.65_66ins20 |
Other/Complex |
01_ex |
- |
- |
- |
unknown |
RB1_01586 |
germline |
bilateral_14 |
bilateral rb |
germline |
blood |
DNA |
- |
familial |
not reported - Diana Rushlow, Gallie:Toronto |
1 |
unpublished |
2 bros affected, unaff parents not tested
|
?/+ |
g.2126_2163del |
c.67_104del |
deletion |
01_ex |
- |
- |
- |
frameshift |
RB1_00448 |
germline |
E609 |
bilateral rb |
germline |
nd |
DNA |
hemi/homozygous |
familial |
Lohmann - Essen |
1 |
unpublished |
- |