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LOVD - Variant listings for RB1

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?/-? g.2127C>T c.68C>T Substitution 01_ex - p.Pro23Leu [Pro23Leu] unknown RB1_01456 - nd unilateral rb - tumor + blood DNA - - - 1 - In tumour + blood DNA of unilateral patient and unaffected father, tumour has two other deleterious mutations not present in patient?s blood DNA
?/? g.2127_2132del c.68_73del deletion 01_ex - p.Pro23_Pro24del Pro23_Pro24del in-frame RB1_00621 - 009-URB unilateral rb germline retinoblastoma DNA - - Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.2131_2137del c.72_78del deletion 01_ex - p.(Pro26Leufs*37) - frameshift RB1_00024 germline E510 bilateral rb germline blood DNA - familial Lohmann - Essen 1 unpublished -
?/? g.2137_2138ins23 c.78_79ins23 Insertion 01_ex - - - frameshift RB1_01673 germline ge_uni_iso_tu_3 unilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/-? g.2137__2139del c.78_80del Deletion 01_ex - p.Pro29del Pro29del unknown RB1_01448 - 687 unilateral rb - blood DNA - - - 1 unpublished No tumor avlb. Blood carries het 7 8_80delGCC. Unaffected mother also carries this mut
?/? g.2142del c.83del deletion 01_ex - - - - RB1_01210 - 11961 unilateral rb germline blood DNA - familial Chen et al. (2003) Clin Experiment Ophthalmol 31: 392 1 published -
?/? g.2142dupC c.83dupC Duplication 01_ex - - - frameshift RB1_01584 somatic bilateral_9 bilateral rb mosaicism blood DNA - isolated not reported - Diana Rushlow 1 unpublished -
?/+ g.2143dup c.84dup insertion 01_ex - - - frameshift RB1_00648 - Fam234 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.2147G>T c.88G>T substitution 01_ex - p.Glu30X - nonsense RB1_00025 - TS8 rb germline blood DNA not reported - Cowell et al., 1994 1 published -
?/+ g.2147G>T c.88G>T substitution 01_ex - p.Glu30X - nonsense RB1_00025 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.2147G>T c.88G>T substitution 01_ex - p.Glu30X - nonsense RB1_00025 - T41 unilateral rb - retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/? g.2148delA c.89delA Deletion 01_ex - - - frameshift RB1_01671 germline ge_uni_iso_tu_1 unilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.2150G>T c.91G>T Substitution 01_ex Stop gained p.Glu31X - unknown RB1_01492 somatic NCI-H526 - somatic tumor DNA - - COSMIC - COSM29759 1 published -
?/? g.2157dup c.98dup insertion 01_ex - p.Glu34Argfs*15 - unknown RB1_01201 unknown 1 bilateral rb germline blood DNA - familial Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
+/+ g.2159G>T c.100G>T
    + c.1654C>T		 Substitution 01_ex - p.Glu34X - nonsense RB1_01411 germline E5344 bilateral rb - tumor + blood DNA heterozygous isolated Germany:Essen 1 unpublished -
?/+ g.2162C>T c.103C>T substitution 01_ex - p.Gln35X - nonsense RB1_00319 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.2162C>T c.103C>T substitution 01_ex - p.Gln35X - nonsense RB1_00319 - not provided - germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/+ g.2162C>T c.103C>T substitution 01_ex - p.Gln35X - nonsense RB1_00319 - not provided - somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.2168_2171delinsCCAGA c.109_112delinsCCAGA Other/Complex 01_ex - - - frameshift RB1_01585 germline bilateral_12 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.2168_2175del c.109_116del deletion 01_ex - p.Ser37Glyfs*9 - frameshift RB1_00799 unknown Fam43 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.2169dup c.110dup insertion 01_ex - - - frameshift RB1_00492 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.2175delC c.115delC Deletion 01_ex - - - unknown RB1_01460 - 23 808 bilateral rb unknown nd DNA unknown familial Munier - Lausanne 1 -
?/? g.2174delC c.116del Deletion 01_ex - p.Pro39Argfs*26 - frameshift RB1_01519 somatic NCI-H1618 - somatic nd DNA - - COSMIC - COSM26897 1 - -
?/+ g.2177G>T c.118G>T substitution 01_ex - p.Glu40X - nonsense RB1_01141 germline E4171 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.2179_2183dup c.120_124dup insertion 01_ex - p.Leu42Argfs*25 - frameshift RB1_01202 unknown 30 bilateral rb germline blood DNA - familial Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.2179_2183dup c.120_124dup insertion 01_ex - p.Leu42Argfs*25 - frameshift RB1_01202 unknown F1; pt# 1 unilateral retinoma germline blood DNA - familial - 1 published -
?/? g.2181ins10 c.122ins10 Insertion 01_ex - - - frameshift RB1_01712 somatic ng_un_is_tu_222 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.2182_2195delinsGCC c.123_136delinsGCC Insertion/Deletion 1_ex - p.(Asp41Glufs*4) - frameshift RB1_02021 germline P_20140723_31 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/? g.2183delC c.124del Deletion 01_ex - p.Leu42Cysfs*23 - unknown RB1_01520 somatic OCUB-M other cancer somatic nd DNA - - COSMIC - COSM27172 1 - -
?/? g.2184insGGACC c.125insGGACC Insertion 01_ex - p.Pro43X - unknown RB1_01462 unknown 24 150 bilateral rb - nd DNA - familial Munier - Lausanne 1 - Mutation also found in family
?/+ g.2187dup c.128dup insertion 01_ex - p.Leu44Serfs*5 - frameshift RB1_00490 unknown not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.2189del c.130del deletion 01_ex - p.Leu44Serfs*21 - frameshift RB1_01355 unknown RB-11 bilateral rb germline blood DNA - - - 1 published -
?/? g.2196G>A c.137G>A substitution 01_ex - p.Arg46Lys/splice Arg46Lys/splice missense-splice RB1_00372 - Fam450 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.2196G>A c.137G>A substitution 01_ex - p.Arg46Lys/splice Arg46Lys/splice missense-splice RB1_00372 - E2144T unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.2196G>A c.137G>A substitution 01_ex - p.Arg46Lys/splice Arg46Lys/splice missense-splice RB1_00372 - RB-52 bilateral rb germline blood DNA - isolated Parsam et al. (2009) J Genet. 2009 Dec;88(4):517-27. 1 published -
?/? g.2196G>A c.137G>A substitution 01_ex - p.Arg46Lys/splice Arg46Lys/splice missense-splice RB1_00372 - F2; pt# 2 unilateral rb/retinoma germline blood DNA - familial Abouzeid et al. (2009), Mol Vis.;15:771-7 1 published -
?/? g.2196G>A c.137G>A substitution 01_ex - p.Arg46Lys/splice Arg46Lys/splice missense-splice RB1_00372 - F2; pt# 3 unilateral retinoma germline blood DNA - familial Abouzeid et al. (2009), Mol Vis.;15:771-7 1 published -
?/? g.2196G>A c.137G>A substitution 01_ex - p.Arg46Lys/splice Arg46Lys/splice missense-splice RB1_00372 - F2; pt# 4 unilateral retinoma germline blood DNA - familial Abouzeid et al. (2009), Mol Vis.;15:771-7 1 published -
?/? g.2196G>A c.137G>A substitution 01_ex - p.Arg46Lys/splice Arg46Lys/splice missense-splice RB1_00372 - nd retinoblastoma - nd DNA - - - 1 - is cosegregating with phenotype in one family
?/? g.2196G>C c.137G>C substitution 01_ex - p.Arg46Thr/splice Arg46Thr/splice missense-splice RB1_00620 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.2196G>C c.137G>C substitution 01_ex - p.Arg46Thr/splice Arg46Thr/splice missense-splice RB1_00620 - Fam669 bilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/? g.2196G>C c.137G>C substitution 01_ex - p.Arg46Thr/splice Arg46Thr/splice missense-splice RB1_00620 - 1 bilateral rb - blood DNA - - - 1 unpublished White and American Indian or Alaska native
?/? g.2197G>A c.137+1G>A substitution 01_in altered splicing - - splice RB1_01250 - 50 bilateral rb germline blood DNA - isolated Sampieri et al. (2006) J Hum Genet 51: 209 1 published -
?/? g.2197G>T c.137+1G>T substitution 01_in altered splicing - - splice RB1_00435 - E2761 - germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.2197G>T c.137+1G>T substitution 01_in altered splicing - - splice RB1_00435 - 108/98 bilateral rb germline blood DNA - isolated Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.2197G>T c.137+1G>T substitution 01_in altered splicing - - splice RB1_00435 germline RB52tunesia bilateral rb germline blood DNA - isolated - 1 - -
?/? g.2198T>A c.137+2T>A substitution 01_in altered splicing - - splice RB1_00923 - Fam910 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.2201G>C c.137+5G>C Substitution 01_in splice - - splice RB1_01588 germline bilateral_17 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 published -
?/? g.2281C>T c.137+85C>T substitution 01_in - variant - variant RB1_01095 unknown not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.2302G>A c.137+106G>A substitution 01_in - variant - variant RB1_00986 - not provided no cancer - nd DNA - - - 1 published -
?/? g.2302G>A c.137+106G>A substitution 01_in - variant - variant RB1_00986 - not provided no cancer germline blood DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/? g.2302G>A c.137+106G>A substitution 01_in - variant - variant RB1_01096 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.2302G>T c.137+106G>T substitution 01_in - variant - variant RB1_00574 - not provided no cancer germline blood DNA - - Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.5300C>T c.138-124C>T substitution 01_in - variant - variant RB1_01003 - not provided no cancer - nd DNA - - - 1 published -
?/? g.5383_5378del c.138-41_138-36del Deletion 01_in - - - unknown RB1_01825 unknown rs3092864 no cancer unknown nd DNA - - dbSNP 1 published -
?/? g.5388_5393del c.138-36_138-31del deletion 01_in - variant - variant RB1_01004 - not provided no cancer germline blood DNA - - dbSNP 1 published Originally reported: Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409.
?/? g.5411_5425del c.138-13_139del deletion 01_in altered splicing - - splice RB1_00332 germline E1904 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.5416T>G c.138-8T>G substitution 01_in altered splicing - - splice RB1_01251 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.5422A>G c.138-2A>G substitution 01_in altered splicing - - splice RB1_00460 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.5422A>G c.138-2A>G substitution 01_in altered splicing - - splice RB1_00460 - E3189 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.5422A>G c.138-2A>G substitution 01_in altered splicing - - splice RB1_00460 - F3427 bilateral rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.5423del c.138-1del complex 01_in altered splicing - - splice RB1_00244 germline E465 bilateral rb germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.5423G>A c.138-1G>A substitution 01_in altered splicing - - splice RB1_00968 - Fam450 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.5423G>A c.138-1G>A substitution 01_in altered splicing - - splice RB1_00968 - E4059 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.2297G>A c.2196+2G>A Substitution 01_in - - - unknown RB1_01793 somatic noge_uni_is_148 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
+/+ g.39437T>A c265-9T>A Substitution 02_in c.264_265insTTCCCAG - - frameshift RB1_02054 germline E6415 bilateral rb germline blood DNA, RNA unknown isolated Lohmann, Germany:Essen 1 unpublished -
?/? g.5423_5550del c.138_264del Deletion 02_ex - p.Leu47Glufs*22 - nonsense RB1_01522 somatic ECC12 other cancer somatic nd DNA - - COSMIC - COSM19546 1 - -
?/? - c.142_170del Deletion 2 - p.(Glu48Tyrfs*52) - frameshift RB1_01958 germline 11F121 bilateral rb germline Blood DNA heterozygous isolated PMID: 24791139:Ming-yan He, He Ming-yan, An Yu, Gao Yi-jin. Screening of gene 1 published oringinally reported: He Ming-yan et al. (2014) Mol Vis, 2014,20:545-552
?/? g.5437G>T c.151G>T Substitution 02_ex Stop gained p.Glu51X - unknown RB1_01493 somatic TCGA-08-0389 - somatic tumor DNA - - COSMIC - COSM42748, [Cancer Genome Atlas Research Network] 1 published -
?/? g.5438delA c.152delA Deletion 02_ex - - - frameshift RB1_01590 germline bilateral_19 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow 1 unpublished -
?/+ g.5440del c.154del deletion 02_ex - p.Thr52Glnfs*13 - frameshift RB1_00649 unknown Fam53 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.5441_5442dup c.155_156dup insertion 02_ex - p.Glu53Glnfs*13 - frameshift RB1_00577 unknown 1b bilateral rb germline blood DNA - familial - 1 published -
?/+ g.5441_5442dup c.155_156dup insertion 02_ex - p.Glu53Glnfs*13 - frameshift RB1_00577 unknown 1b rb germline nd DNA - - JL Gala - Brussels 1 unpublished -
?/+ g.5446G>T c.160G>T substitution 02_ex - p.Glu54X - nonsense RB1_00281 - Yu24 bilateral rb germline blood DNA - isolated Choy et al. (2002) Hum Mutat 20(5): 408. 1 published -
?/+ g.5446G>T c.160G>T substitution 02_ex - p.Glu54X - nonsense RB1_00281 - Yu38 bilateral rb germline blood DNA - - Choy et al. (2002) Hum Mutat 20(5): 408. 1 published -
?/+ g.5446G>T c.160G>T substitution 02_ex - p.Glu54X - nonsense RB1_00281 - not provided - - nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.5446G>T c.160G>T substitution 02_ex - p.Glu54X - nonsense RB1_00281 - not provided bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.5446G>T c.160G>T substitution 02_ex - p.Glu54X - nonsense RB1_00281 somatic ESS-1 - somatic tumor DNA - - COSMIC - COSM876 1 published -
?/? g.5447A>G c.161A>G Substitution 02_ex - p.Glu54Gly Glu54Gly unknown RB1_01446 - 10 other cancer - blood DNA - - - 1 unpublished Breast Cancer
+/? - c.171dup Duplication 02_ex - p.Thr58Tyrfs*52 - frameshift RB1_01964 somatic fam-no_20093800 retinoblastoma - blood, tumour DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published -
?/-? g.5459C>T c.173C>T Substitution 02_ex - p.Thr58Ile - unknown RB1_01566 germline 1KG_13_48881451 - germline blood DNA - - http://www.1000genomes.org/ 1 published -
+/? - c.174_175del Deletion 02_ex - p.Ala59Ilefs*50 - frameshift RB1_01965 germline fam-no_19930064 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published -
?/-? g.5461G>C c.175G>C Substitution 02_ex - p.Ala59Pro - unknown RB1_01567 somatic 1KG_13_48881453 - germline blood DNA - - http://www.1000genomes.org/ 1 published -
?/? g.5463A>T c.177A>T Substitution 02_ex - - - unknown RB1_01821 somatic 1KG_13_48881455 other cancer unknown nd DNA - - http://www.1000genomes.org/ 1 published -
?/? g.5463_5464insT c.177_178insT Substitution 02_ex - - - frameshift RB1_01789 somatic ge_is_uni_13 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 - 2nd mut in tumor
?/? g.5464_5471del c.178_185del Deletion 2_ex - p.(Leu60Glufs*47) - frameshift RB1_02022 germline P_20140723_57 bilateral rb germline blood DNA unknown familial Houdayer - Paris 1 unpublished -
?/? - c.179T>A Substitution 2_ex - p.(Leu60*) - nonsense RB1_01957 germline 12F875 bilateral rb germline Blood DNA heterozygous isolated 24791139:[Ming-yan He], He Ming-yan, An Yu, Gao Yi-jin. Screening of gene 1 published -
?/? g.5466dup c.180dup insertion 02_ex - - - - RB1_00937 - Fam852 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.5469T>A c.183T>A Substitution 02_ex Stop gained p.Cys61X - unknown RB1_01494 somatic NCI-H1963 - somatic tumor DNA - - COSMIC - COSM34049 1 published -
?/+ g.5470C>T c.184C>T substitution 02_ex - p.Gln62* - nonsense RB1_00027 somatic E527T unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann et al., 1997 1 published COSMIC - COSM893
?/+ g.5470C>T c.184C>T substitution 02_ex - p.Gln62X - nonsense RB1_00027 - Fam948 bilateral rb germline nd DNA - not reported not reported, BL Gallie - Toronto 1 unpublished -
?/? g.5476_5479dup c.187_190dup Insertion 2_ex - p.(Leu64*) - unknown RB1_02023 germline P_20140723_47 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/+ g.5473_5491delins9 c.187_205delins9 complex 02_ex RT-PCR 63X - frameshift RB1_01138 germline E3533 bilateral rb germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/+ g.5477T>G c.191T>G substitution 02_ex - p.Leu64X - nonsense RB1_00650 - Fam194 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.5479_5480delAA c.193_194delAA Deletion 02_ex - - - frameshift RB1_01698 somatic ng_un_is_tu_158 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.5480dup c.194dup insertion 02_ex - p.Ile66Aspfs*44 - frameshift RB1_00028 unknown G431 bilateral rb germline blood DNA - isolated Lohmann et al., 1994 1 published -
?/+ g.5481_5482del c.195_196del deletion 02_ex - p.Lys65Asnfs*44 - frameshift RB1_00029 unknown BOD RB47 unilateral unifocal rb germline blood DNA not reported - Blanquet et al., 1993 1 published -
?/? g.5483insA c.197insA Insertion 02_ex - - - frameshift RB1_01589 germline bilateral_18 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow 1 unpublished -
?/+ g.5483_5484dup c.197_198dup insertion 02_ex - p.Pro67Tyrfs*11 - frameshift RB1_00565 unknown not provided unilateral rb somatic retinoblastoma DNA - - Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.5484dup c.198dup insertion 02_ex - - - - RB1_00838 - Fam6 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
101 - 200
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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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