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LOVD - Variant listings for RB1

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?/? g.78269C>A c.1685C>A Substitution 17_ex - p.(Ala562Glu) - missense RB1_01880 unknown Supp_Tab_Mt-70 - - nd DNA - - Price et al., 2013 1 published -
?/? g.78271delT c.1687delT Deletion 17_ex - - - unknown RB1_01635 germline bilateral_338 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.78271G>C c.1687T>C substitution 17_ex - p.Trp563Arg - missense RB1_00310 unknown E2244 bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.78272G>A c.1688G>A substitution 17_ex - p.Trp563X - nonsense RB1_00290 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.78272G>A c.1688G>A substitution 17_ex - p.Trp563X - nonsense RB1_00290 - not provided bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.78272G>A c.1688G>A substitution 17_ex - p.Trp563X - nonsense RB1_00290 - not provided bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.78272G>A c.1688G>A substitution 17_ex - p.Trp563X - nonsense RB1_00290 somatic #757 unilateral rb somatic tumour DNA heterozygous isolated Renieri - Siena 1 unpublished -
?/? g.78272G>C c.1688G>C substitution 17_ex - p.Trp563Ser - missense RB1_00268 unknown not provided bilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.78272G>C c.1688G>C substitution 17_ex - p.Trp563Ser - missense RB1_00268 unknown not provided - germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.78272G>T c.1688G>T substitution 17_ex - p.Trp563Leu - - RB1_01343 - RB-K rb germline blood DNA - familial lp Scheffer et al. (2000) J Med Genet 37:E6 1 published -
?/? g.78273G>A c.1689G>A Substitution 17_ex - p.Trp563X - nonsense RB1_01512 somatic 16668 other cancer somatic nd DNA - - COSMIC - COSM48894, Ding et al., 2008 1 published -
+/? g.78273G>A c.1689G>A Substitution 17_ex - p.Trp563X - nonsense RB1_01512 unknown Tab_1_11 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/? g.78273G>C c.1689G>C Substitution 17_ex - p.(Trp563Cys) - missense RB1_01881 unknown Supp_Tab_Mt-71 - - nd DNA - - Price et al., 2013 1 published -
?/? g.78273G>T c.1689G>T substitution 17_ex - p.Trp563Cys - - RB1_01271 - 203/98 bilateral rb germline blood DNA - isolated Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.78273G>T c.1689G>T substitution 17_ex - p.Trp563Cys - - RB1_01271 - CU009 unilateral rb germline blood DNA - familial Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.78274_78306del c.1690_1695+27del deletion 17_ex - - - frameshift RB1_00970 - Fam436 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
+/+ - c.1693_1694dup
    + c.1815-5T>C, c.1876G>A, c.1966C>T		 Insertion 17_ex - p.(Asp566Glnfs*46) - frameshift RB1_01872 germline #2226 bilateral rb germline blood DNA unknown familial Gallie:Toronto 1 unpublished Patient is heterozygous for a frameshift alteration and for two missense alterations.
?/? g.78277_78280 c.1693_1695+1del Substitution 17_ex - - - unknown RB1_01629 germline bilateral_310 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.78277_78290del c.1693_1695+11del deletion 17_ex altered splicing - - splice RB1_00823 - Fam368 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.78280G>A c.1695+1G>A Substitution 17_in Splice site - - splice RB1_01577 germline RB32tunesia bilateral rb germline blood DNA - familial - 1 unpublished -
?/? g.78280G>T c.1695+1G>T substitution 17_in altered splicing - - splice RB1_01263 - 256/96 bilateral rb germline blood DNA - isolated Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.78281T>A c.1695+2T>A substitution 17_in altered splicing - - splice RB1_01147 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.78281T>C c.1695+2T>C substitution 17_in altered splicing - - splice RB1_00211 - LuC150C other tumor somatic LuSquamoCa DNA - - Sachse et al., 1994 1 published -
?/? g.78281T>G c.1695+2T>G substitution 17_in altered splicing - - splice RB1_01247 - Fam637 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.78282A>C c.1695+3A>C substitution 17_in altered splicing - - splice RB1_00208 - G438 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/? g.78282A>T c.1695+3A>T substitution 17_in altered splicing - - splice RB1_01321 - 19 bilateral rb - retinoblastoma DNA - - Van Orsouw et al. (1996) Hum Mol Genet 5: 755 1 published -
?/? g.78284G>A c.1695+5G>A substitution 17_in altered splicing - - splice RB1_00911 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.78284G>A c.1695+5G>A substitution 17_in altered splicing - - splice RB1_00911 - Fam748 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.78284G>C c.1695+5G>C substitution 17_in altered splicing - - splice RB1_00329 - noE1657T unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.78284G>C c.1695+5G>C
    + c.1981C>T		 substitution 17_in altered splicing - - splice RB1_00329 germline E1657 unilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 unpublished new germline mutation
?/? g.78285T>C c.1695+6T>C substitution 17_in altered splicing - - splice RB1_00388 - not provided unilateral rb germline nd DNA heterozygous familial Lohmann - Essen 1 unpublished -
?/? g.78285T>C c.1695+6T>C substitution 17_in altered splicing - - splice RB1_00388 - E5 unilateral rb germline blood DNA - familial lp Zhang et al. (2008) Hum Mutat 29:475 1 published -
?/? g.78285T>C c.1695+6T>C
    + c.1654C>T		 substitution 17_in altered splicing - - splice RB1_00388 germline E2782 unilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - -
?/? g.78285T>G c.1695+6T>G substitution 17_in altered splicing - - splice RB1_00210 - RB299 bilateral rb germline retinoblastoma DNA hemi/homozygous isolated Shimizu et al., 1994 1 published -
?/? g.78360insAA c.1695+81_1695+82insAA insertion 17_in - variant - variant RB1_01114 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.78361ins c.1695+82 insertion 17_in - variant - variant RB1_01065 - not provided no cancer - nd DNA - - Lohmann - Essen 1 published -
?/? g.78361ins c.1695+82 insertion 17_in - variant - variant RB1_01065 - not provided - unknown nd DNA unknown unknown dbSNP 1 - -
?/? g.78376T>A c.1695+97T>A substitution 17_in - variant - variant RB1_01115 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.78534_78535dup c.1695+255_1695+256dup deletion 17_in - variant - variant RB1_00608 - not provided no cancer germline blood DNA - - Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.94026A>G c.1695+15747A>G substitution 17_in - variant - variant RB1_01085 - not provided no cancer - nd DNA - - - 1 published -
?/? g.99362C>T c.1695+21083C>T substitution 17_in - variant - variant RB1_01076 - not provided no cancer - nd DNA - - Lohmann - Essen 1 published -
?/? g.99426C>T c.1695+21147>CT substitution 17_in - variant - variant RB1_00518 - not provided bilateral rb germline blood DNA - familial Alonso et al. (2004) Genes Chromosomes Cancer 40(3): 271-5. 1 published -
?/? g.99426C>T c.1695+21147C>T substitution 17_in - variant - variant RB1_00988 - not provided no cancer - nd DNA - - - 1 published -
?/? g.111765C>G c.1695+33486C>G substitution 17_in - variant - variant RB1_01069 - not provided no cancer - nd DNA - - - 1 published -
?/? g.111765C>G c.1695+33486C>G substitution 17_in - variant - variant RB1_01069 - not provided - unknown nd DNA unknown unknown dbSNP 1 - -
?/? g.120356A>G c.1696-29642A>G substitution 17_in - variant - variant RB1_01075 - not provided no cancer - nd DNA - - - 1 published -
?/? g.120356A>G c.1696-29642A>G substitution 17_in - variant - variant RB1_01075 - not provided - unknown nd DNA unknown unknown dbSNP 1 - -
?/? g.135136A>G c.1696-14862A>G substitution 17_in - variant - variant RB1_01070 - not provided no cancer - nd DNA - - - 1 published -
?/? g.135136A>G c.1696-14862A>G substitution 17_in - variant - variant RB1_01070 - not provided - unknown nd DNA unknown unknown dbSNP 1 - -
?/? g.149721T>C c.1696-277T>C substitution 17_in - variant - variant RB1_01080 - not provided no cancer - nd DNA - - - 1 published -
?/? g.149916A>G c.1696-82A>G substitution 17_in - variant - variant RB1_01073 - not provided no cancer - nd DNA - - Lohmann - Essen 1 published -
?/? g.149931A>G c.1696-67A>G substitution 17_in - variant - variant RB1_01067 - not provided no cancer - nd DNA - - Lohmann - Essen 1 published -
?/? g.149986T>G c.1696-12T>G substitution 17_in altered splicing - - splice RB1_00825 - Fam433 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.149986T>G c.1696-12T>G substitution 17_in altered splicing - - splice RB1_00825 - T3 bilateral rb germline blood DNA - - Zhang et al. (2008) Hum Mutat 29: 475 1 published -
?/? g.149991>T c.1696-7C>T Substitution 17_in - - - unknown RB1_01818 unknown 1KG_13_49027122 other cancer unknown nd DNA - - http://www.1000genomes.org/ 1 published -
?/? g.149994A>G c.1696-4A>G Substitution 17_in - - - unknown RB1_01819 unknown 1KG_13_49027125 other cancer unknown nd DNA - - http://www.1000genomes.org/ 1 published -
?/? g.149995T>G c.1696-3T>G substitution 17_in altered splicing - - splice RB1_00347 germline E2577 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.149996A>G c.1696-2A>G Substitution 17_in splice_acceptor - - unknown RB1_01888 unknown Supp_Tab_Mt-72 - - nd DNA - - Price et al., 2013 1 published -
?/? g.149997A>G c.1696-1G>A substitution 17_in altered splicing - - splice RB1_00209 - RB173 bilateral rb germline blood DNA - - Blanquet et al., 1995 1 published -
?/? g.149997A>G c.1696-1G>A substitution 17_in altered splicing - - splice RB1_00209 - RB296 bilateral rb germline blood DNA - - Blanquet et al., 1995 1 published -
?/? g.149997A>G c.1696-1G>A substitution 17_in altered splicing - - splice RB1_00209 - TS94 - germline blood DNA not reported - Cowell et al., 1994 1 published -
?/? g.149997G>T c.1696-1G>T Substitution 17_in altered splicing - - unknown RB1_01485 somatic ESS-1 other cancer somatic tumor DNA - - COSMIC - COSM13734 1 published -
?/? g.149998G>A c.1696G>A substitution 18_ex altered splicing - - splice RB1_01319 - 10 bilateral rb - retinoblastoma DNA - - Van Orsouw et al. (1996) Hum Mol Genet 5: 755 1 published -
?/? g.150002C>A c.1700C>A Substitution 18_ex - p.Ser567* - nonsense RB1_01513 somatic NCI-H2171 other cancer somatic nd DNA - - COSMIC - COSM13118 1 published -
?/? g.150002C>A c.1700C>A Substitution 18_ex - p.Ser567* - nonsense RB1_01513 germline fam-no_19980201 retinoblastoma germline blood DNA unknown familial Dommering et al. 2014, Germany:Essen 1 published -
?/? g.150002C>T c.1700C>T substitution 18_ex - p.Ser567Leu - missense RB1_00004 - RB-104 bilateral rb germline blood DNA - - Yandell et al., 1989 1 published -
?/? g.150002C>T c.1700C>T substitution 18_ex - p.Ser567Leu - missense RB1_00004 - E591 bilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/+ g.150002_150045dup c.1700_1743dup insertion 18_ex - - - frameshift RB1_00278 germline E768 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.150005dup c.1703dup Insertion 18_ex - p.(Leu569Phefs*3) - frameshift RB1_02074 germline P_20140723_335 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/+ g.150005_150008del c.1703_1706del deletion 18_ex - p.Pro568Hisfs*42 - frameshift RB1_00605 unknown not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.150006_150008del c.1704_1706del deletion 18_ex - p.Leu569del - in-frame RB1_00125 - RB62 bilateral rb germline blood DNA not reported - Blanquet et al., 1995 1 published -
?/+ g.150008T>G c.1706T>G substitution 18_ex - p.Leu569X - nonsense RB1_00475 germline E3736 bilateral rb germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/? g.150009A>G c.1707A>G substitution 18_ex - variant - variant RB1_01050 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
-?/? g.15009A>G c.1707A>G Substitution 18_ex - p.Leu569Leu [Leu569Leu] unknown RB1_01454 - nd unilateral rb - tumor DNA - - - 1 - Entry in RetinoblastomaWiki
?/? g.150009A>G c.1707A>G substitution 18_ex - variant - variant RB1_01050 unknown rs3092895 - unknown nd DNA - - dbSNP 1 published probably damaging / deleterious
?/? g.150009A>T c.1707A>T Substitution 18_ex - p.Leu569Phe - missense RB1_01811 unknown rs3092895 other cancer unknown nd DNA - unknown dbSNP 1 published -
?/+ g.150009del c.1707del deletion 18_ex - p.Leu569Phefs*42 - frameshift RB1_00126 unknown VER (RB500) bilateral rb germline blood DNA not reported familial Blanquet et al., 1993 1 published -
+/? - c.1707_1710del Deletion 18_ex - p.Phe570Ilefs*40 - frameshift RB1_01983 germline fam-no_20115505 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published -
?/? g.150010_150011del c.1708_1709del Deletion 18_ex - - - frameshift RB1_01638 germline bilateral_349 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.150011_150012del c.1709_1710del deletion 18_ex - p.(Lys577_Arg579del) - frameshift RB1_00672 unknown Fam359 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.150011_150012dup c.1709_1710dup insertion 18_ex - - - frameshift RB1_00827 - Fam739 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.150012dup c.1710dup insertion 18_ex - p.(Asp571*) - frameshift RB1_00553 unknown not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.150012insTT c.1710insTT Insertion 18_ex - - - frameshift RB1_01637 germline bilateral_343 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.150018_150019insA c.1717dup Duplication 18_ex - p.Ile573Asnfs*2 - frameshift RB1_01562 somatic DMS-153 other cancer somatic nd DNA - - COSMIC - COSM13143 1 published -
?/? g.150019_150020el c.1717_1718del Deletion 18_ex - p.(Ile573*) - unknown RB1_02075 germline P_20140723_332 bilateral rb germline blood DNA unknown familial Houdayer - Paris 1 unpublished -
?/? g.150024insA c.1722insA Insertion 18_ex - - - frameshift RB1_01788 somatic ge_is_uni_5 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished 2nd mut in tumor
?/+ g.150025C>T c.1723C>T substitution 18_ex - p.Gln575X - nonsense RB1_00128 - G461 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.150025C>T c.1723C>T substitution 18_ex - p.Gln575X - nonsense RB1_00128 - #296 bilateral rb germline blood DNA not reported isolated Sippel et al., 1998 1 published -
?/+ g.150025C>T c.1723C>T substitution 18_ex - p.Gln575X - nonsense RB1_00128 - Fam199 unilateral rb somatic retinoblastoma DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.150025C>T c.1723C>T substitution 18_ex - p.Gln575X - nonsense RB1_00128 - not provided unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.150025C>T c.1723C>T substitution 18_ex - p.Gln575X - nonsense RB1_00128 - not provided - somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.150025C>T c.1723C>T substitution 18_ex - p.Gln575X - nonsense RB1_00128 - not provided unilateral rb somatic nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.150025C>T c.1723C>T substitution 18_ex - p.Gln575X - nonsense RB1_00128 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.150025C>T c.1723C>T substitution 18_ex - p.Gln575X - nonsense RB1_00128 - Fam610 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.150025C>T c.1723C>T substitution 18_ex - p.Gln575X - nonsense RB1_00128 - Fam475 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.150025C>T c.1723C>T substitution 18_ex - p.Gln575* - nonsense RB1_00128 somatic #570/2013 unilateral rb somatic tumour DNA heterozygous isolated Renieri - Siena 1 unpublished -
?/? g.150026ins17 c.1724_1725ins17 insertion 18_ex - - - - RB1_00889 - Fam327 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.150028_150031del c.1726_1729del deletion 18_ex - p.Ser576Argfs*34 - frameshift RB1_00127 unknown E636T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/+ g.150028_150031del c.1726_1729del deletion 18_ex - p.Ser576Argfs*34 - frameshift RB1_00127 unknown E636T unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.150028_150031del c.1726_1729del deletion 18_ex - - - frameshift RB1_00888 - Fam320 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
2201 - 2300
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Legend: [ RB1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. g-position: Variation at DNA level according to GenBank accession number L11910 (NCBI Genbank) cDNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Type: Type of variant at DNA level. Exon: Exon numbering. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. RBWiki: RBWiki expected consequence type: expected consequence type at protein level, e.g. frameshift, missense RB1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. originated_in: data on the cell of origin, either germline or somatic (mosaic mutations are of somatic origin) Patient ID: Internal reference to the patient. Phenotype: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Mut. origin: Origin of mutation Tissue: Tissue type the variant was detected in. Template: Variant detected in DNA, RNA and/or Protein. tumor-genotype: Genotype of the tumor cells family history: Occurrence of the tumor in the family Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported Published: Patient data is published in a paper

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