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LOVD - Variant listings for RB1

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?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - E3400 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - E2186 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - not provided - somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - not provided bilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - not provided bilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam341 bilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam840 unilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam208 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam684 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam776 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam812 bilateral rb germline nd DNA - - not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam172 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam533 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam746 unilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam963 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam24 bilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - Fam926 bilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - case 2 bilateral rb germline blood DNA - isolated Zajaczek et al. (1999) Eur J Cancer 35(13):1824 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - 163 bilateral rb germline blood DNA - familial Dalamon et al. (2004)JBiochem Mol Biol37: 246 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - 0913 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - RB1 bilateral rb germline retinoblastoma DNA heterozygous isolated de Andrade et al. (2006) Cancer Genet Cytogenet 167: 43 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - 35 bilateral rb germline blood DNA - familial Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - F4; pt# 6 bilateral retinoma germline blood DNA - familial Abouzeid et al. (2009), Mol Vis.;15:771-7 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - F4; pt# 7 unilateral rb/retinoma germline blood DNA - familial Abouzeid et al. (2009), Mol Vis.;15:771-7 1 published -
?/+ g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 - F4; pt# 8 bilateral retinoma germline blood DNA - familial Abouzeid et al. (2009), Mol Vis.;15:771-7 1 published -
?/? g.65386C>T c.1072C>T
    + c.2663+2T>A		 substitution 11_ex - p.Arg358X - nonsense RB1_00008 somatic E2119 bilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 unpublished -
?/? g.65386C>T c.1072C>T
    + c.2058_2066del		 substitution 11_ex - p.Arg358X - nonsense RB1_00008 somatic E3215 bilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - new germline mutation
?/? g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 germline RB39 bilateral rb - blood DNA - - Abidi et al. (2011) Mol Vis.;17:3541-7 1 published -
?/? g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 somatic SJRB001X retinoblastoma somatic nd DNA - - COSMIC - COSM879, Zhang et al., 2012 1 published -
+/? g.65386C>T c.1072C>T substitution 11_ex - p.Arg358X - nonsense RB1_00008 unknown Tab_1_6 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/? g.65392del c.1078del deletion 11_ex - p.Ser360Valfs*7 - unknown RB1_01222 unknown 52 bilateral rb germline blood DNA - isolated Sampieri et al. (2006) J Hum Genet 51: 209 1 published -
+/? - c.1078_1082dup Duplication 11_ex - p.Asn361Lysfs*8 - frameshift RB1_01974 germline fam-no_20113957 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published -
?/? g.65393delG c.1079delG Deletion 11_ex - p.(Ser360Ilefs*7) - frameshift RB1_01920 unknown Supp_Tab_Mt-49 - - nd DNA - - Price et al., 2013 1 published -
?/+ g.65397_65399delinsGAGG c.1083_1085delinsGAGG complex 11_ex - p.Asn361Lysfs*3 - frameshift RB1_00078 unknown G492 bilateral rb germline blood DNA - isolated Lohmann et al., 1994 1 published -
-?/-? g.65405A>C c.1091A>C
    + c.2489G>T		 Substitution 11_ex - p.(Glu364Ala) - missense RB1_02056 germline E6458 bilateral rb germline blood DNA heterozygous isolated Lohmann, Germany:Essen 1 unpublished -
?/+ g.65409 c.1095ins insertion 11_ex - 383X - frameshift RB1_00706 - not provided bilateral rb germline blood DNA - isolated Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.65410del c.1096del deletion 11_ex - p.(Val366*) - frameshift RB1_00079 unknown E38 bilateral rb germline inherited blood DNA - familial Lohmann et al., 1994 1 published -
?/? g.65416G>A c.1102G>A Substitution 11_ex - p.Val368Ile - unknown RB1_01569 unknown rs1049721 - - nd DNA - - dbSNP 1 published -
?/+ g.65417del c.1103del deletion 11_ex - p.Val368Glufs*12 - frameshift RB1_00256 unknown #377 bilateral rb somatic retinoblastoma DNA Heterozygous - Sippel et al., 1998 1 published -
?/+ g.65431_65434del c.1117_1120del deletion 11_ex - - - frameshift RB1_00884 - Fam691 bilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.65432delC c.1118delC Deletion 11_ex - - - frameshift RB1_01619 germline bilateral_194 bilateral rb germline blood DNA - unknown not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.65433_65434delTC c.1119_1120delTC Deletion 11_ex - - - frameshift RB1_01718 somatic ng_un_is_tu_247 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.65435_65346del c.1121_1122del deletion 11_ex - p.Pro374Argfs*2 - frameshift RB1_00080 unknown RB155 bilateral rb germline blood DNA not reported - Blanquet et al., 1995 1 published -
?/+ g.65435_65346del c.1121_1122del deletion 11_ex - p.Pro374Argfs*2 - frameshift RB1_00080 unknown Fam117 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.65435_65346del c.1121_1122del deletion 11_ex - p.Pro374Argfs*2 - frameshift RB1_00080 unknown Fam498 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.65437G>T c.1123G>T Substitution 11_ex altered splicing p.Val375Phe Val375Phe unknown RB1_01444 - 3 bilateral rb - blood DNA - - - 1 unpublished Patients ethnicity: Black
+/+ g.65438T>G c.1124T>G Substitution 11_ex c.1124_1126del p.Val375Gly/splice - splice RB1_01463 germline E5569 bilateral rb unknown blood DNA unknown isolated Lohmann, Germany:Essen 1 unpublished -
?/? g.65482A>C c.1127+41A>C substitution 11_in - variant - variant RB1_01034 - not provided no cancer - nd DNA - - Blanquet et al., 1993 1 published -
?/? g.65515C>T c.1127+74C>T substitution 11_in - variant - variant RB1_01035 - not provided no cancer - blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.65515C>T c.1127+74C>T substitution 11_in - variant - variant RB1_01035 - not provided - unknown nd DNA unknown unknown dbSNP 1 - -
?/? g.65541T>C c.1127+100T>C substitution 11_in - variant - variant RB1_01036 - not provided no cancer germline blood DNA - - dbSNP 1 published originally published in: Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409
?/? g.65614G>A c.1127+173G>A substitution 11_in - variant - variant RB1_01037 - not provided no cancer - blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.70169T>G c.1128-73T>G Substitution 11_in - - - unknown RB1_01395 - not provided retinoblastoma unknown nd DNA unknown familial Alonso et al. (2001) Hum Mutat. 2001 May;17(5):437. 1 published -
?/? g.70170T>A c.1128-72T>A substitution 11_in - variant - variant RB1_00516 - not provided bilateral rb germline blood DNA - familial Alonso et al. (2004) Genes Chromosomes Cancer 40(3): 271-5. 1 published -
?/? g.70170T>A c.1128-72T>A substitution 11_in - variant - variant RB1_01071 - not provided no cancer - nd DNA - - Lohmann - Essen 1 published -
?/? g.70170T>G c.1128-72T>G substitution 11_in - variant - variant RB1_01038 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.70170T>G c.1128-72T>G substitution 11_in - variant - variant RB1_01038 - not provided retinoblastoma unknown nd DNA - - dbSNP 1 - -
?/? g.70213 c.1128-29delA Deletion 11_in - - - unknown RB1_01838 somatic rs66729479 no cancer somatic nd DNA - - dbSNP 1 published -
?/? g.70240A>G c.1128-2A>G Substitution 11_in altered splicing - - unknown RB1_01478 somatic MS-1 other cancer somatic tumor DNA - - COSMIC - COSM13735 1 published -
+/? - c.1128-2A>G Substitution 11_in - - - splice RB1_01478 germline fam-no_19953359 retinoblastoma germline blood DNA unknown familial Dommering et al. 2014, Germany:Essen 1 published Reported in lung carcinoma cell line Cosmic database (COSM13735) No RNA available Predicted: alters the acceptor splice site of intron 11, leading to a skip of exon 12.
?/? g.70241G>A c.1128-1G>A substitution 11_in altered splicing - - splice RB1_01366 - RB-59 bilateral rb germline blood DNA - isolated - 1 published -
?/? g.70241G>T c.1128-1G>T Substitution 11_in splice - - splice RB1_01723 somatic ng_un_is_tu_272 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow 1 unpublished -
+/+ g.65439 c.1225_1127delinsAA Other/Complex 11_ex exon skipping Ser350Arg, Phe351_Arg376del [list] in-frame RB1_01390 - E5399 bilateral rb germline blood DNA unknown unknown Lohmann, Germany:Essen 1 unpublished -
?/? g.70243A>T c.1129A>T substitution 12_ex - p.Thr377Ser - missense RB1_01192 - Rb222 rb germline blood DNA - - Tsai et al. (2004) Arch Ophthalmol 122:239 1 published -
?/? g.70243A>T c.1129A>T substitution 12_ex - p.Thr377Ser - missense RB1_01192 - Rb232 rb germline blood DNA - - Tsai et al. (2004) Arch Ophthalmol 122:239 1 published -
?/? g.70243A>T c.1129A>T substitution 12_ex - p.Thr377Ser - missense RB1_01192 germline 1KG_13_48947542 - germline blood DNA - - http://www.1000genomes.org/ 1 published benign/tolerated
?/+ g.70245del c.1131del deletion 12_ex - p.Val378Leufs*2 - frameshift RB1_00503 unknown not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.70249dupA c.1135dupA Duplication 12_ex - p.(Met379Asnfs*16) - unknown RB1_01921 unknown Supp_Tab_Mt-50 - - nd DNA - - Price et al., 2013 1 published -
?/+ g.70247_70253del c.1139_1145del deletion 12_ex - p.(Asn380Thrfs*4) - frameshift RB1_00547 unknown not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.70254C>T c.1140C>T Substitution 12_ex - p.Asn380Asn Asn380Asn unknown RB1_01445 unknown 5 unilateral rb - blood DNA - - - 1 unpublished -
?/+ g.70255dup c.1141dup insertion 12_ex - p.Thr381Asnfs*14 - frameshift RB1_00800 unknown Fam216 bilateral rb germline nd DNA - - Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.70256insA c.1142insA Insertion 12_ex - - - frameshift RB1_01620 germline bilateral_198 bilateral rb germline blood DNA - unknown not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.70256_70268del c.1142_1154del deletion 12_ex - fs - frameshift RB1_00956 - Fam416 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.70261C>T c.1147C>T substitution 12_ex - p.Gln383X - nonsense RB1_00382 - Fam98 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.70261C>T c.1147C>T substitution 12_ex - p.Gln383X - nonsense RB1_00382 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.70261C>T c.1147C>T substitution 12_ex - p.Gln383X - nonsense RB1_00382 - CO350 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.70261C>T c.1147C>T substitution 12_ex - p.Gln383X - nonsense RB1_00382 - SR15T bilateral rb somatic retinoblastoma DNA - isolated Kontic et al. (2006) J Hum Genet 51: 909 1 published -
?/? g.70261C>T c.1147C>T substitution 12_ex - p.Gln383X - nonsense RB1_00382 somatic 647-V other cancer somatic nd DNA - - COSMIC - COSM13409 1 published -
?/+ g.70261dup c.1147dup insertion 12_ex - p.Gln383Profs*12 - frameshift RB1_00367 unknown E2336T - somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.70261dup c.1147dup
    + c.994del		 insertion 12_ex - p.Gln383Profs*12 - frameshift RB1_00367 somatic E2336 bilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - new germline mutation
+/? g.70261C>T c.1149C>T Substitution 12 - - - nonsense RB1_01539 germline 534 bilateral rb germline leukocytes DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
+/? - c.1149dup Duplication 12_ex - p.Gln384Thrfs*4 - frameshift RB1_01975 somatic supp_table_1_16 retinoblastoma germline blood, tumour DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published -
?/+ g.70264C>T c.1150C>T substitution 12_ex - p.Gln384X - nonsense RB1_00081 - RB313 bilateral rb germline retinoblastoma DNA hemi/homozygous isolated Shimizu et al., 1994 1 published -
?/+ g.70264C>T c.1150C>T substitution 12_ex - p.Gln384X - nonsense RB1_00081 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.70264C>T c.1150C>T substitution 12_ex - p.Gln384X - nonsense RB1_00081 - Fam564 unilateral rb somatic retinoblastoma DNA - possibly familial not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.70268T>A c.1154T>A substitution 12_ex - p.Leu385X - nonsense RB1_00293 germline E2015 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.70268_70271del c.1154_1157del Deletion 12_ex - - - frameshift RB1_01694 somatic ge_uni_iso_tu70 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished found in tumor in addition to del1->27 in blood
?/+ g.70267_70277del c.1155_1165del deletion 12_ex - p.Leu385Phefs*6 - frameshift RB1_00548 unknown not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.70270dup c.1156dup insertion 12_ex - p.Met386Asnfs*9 - frameshift RB1_00502 unknown not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.70273A>T c.1159A>T Substitution 12_ex - p.Met387Leu - missense RB1_01570 germline 1KG_13_48947572 - germline blood DNA - - http://www.1000genomes.org/ 1 published benign/tolerated
?/+ g.70273dup c.1159dup insertion 12_ex - p.Met387Asnfs*8 - frameshift RB1_00082 unknown G414 bilateral rb germline blood DNA - isolated Lohmann et al., 1994 1 published -
?/+ g.70275del c.1161del deletion 12_ex - p.Met387Ilefs*3 - frameshift RB1_00801 unknown Fam592 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.70275dup c.1161dup insertion 12_ex - p.Ile388Aspfs*7 - frameshift RB1_00335 somatic E2296 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.70277T>G c.1163T>G Substitution 12_ex - p.Ile388Ser - unknown RB1_01808 somatic BT-20 other cancer somatic tumor DNA - unknown COSMIC - COSM35887 1 published -
?/? g.70279_70285dup7 c.1165_1171dup7 Duplication 12_ex - p.(Ser391Phefs*6) - frameshift RB1_01922 unknown Supp_Tab_Mt-52 - - nd DNA - - Price et al., 2013 1 published -
?/? g.70280delT c.1166delT Deletion 12_ex - p.(Leu389*) - nonsense RB1_01942 unknown Supp_Tab_Mt-51 - - nd DNA - - Price et al., 2013 1 published -
?/+ g.70280dup c.1166dup insertion 12_ex - p.Leu389Phefs*6 - frameshift RB1_00353 germline E2593 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.70280dup c.1166dup insertion 12_ex - p.Leu389Phefs*6 - frameshift RB1_00469 somatic E3590 unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
1201 - 1300
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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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