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LOVD - Variant listings for RB1

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?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam431 unilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam635 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam807 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam410 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - Fam442 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - 11b bilateral rb germline blood DNA - familial - 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - 12b bilateral rb germline blood DNA - isolated - 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - 6 bilateral rb - retinoblastoma DNA - - Van Orsouw et al. (1996) Hum Mol Genet 5: 755 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - F4540 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - F2970 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - 14 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
+/? g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - IRB9 bilateral rb somatic Retinoblastoma Tumor DNA heterozygous isolated Iran:Tehran 1 - -
+/? g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 - IRB10 bilateral rb germline Retinoblastoma Tumor DNA hemi/homozygous isolated Iran:Tehran 1 - -
?/? g.76898C>T c.1399C>T
    + c.951_954del		 substitution 15_ex - p.Arg467X - nonsense RB1_00099 germline E2276 bilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - new germline mutation
?/? g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 somatic S81261 other cancer somatic nd DNA - - COSMIC - COSM866, Wadayama et al., 1994 1 published -
?/? g.76898C>T c.1399C>T substitution 15_ex - p.Arg467X - nonsense RB1_00099 unknown Tab_1_10 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/? g.76898_76900delinsT c.1399_1401delinsT Other/Complex 15_ex - p.(Arg467Phefs*7) - frameshift RB1_01926 unknown Supp_Tab_Mt-62 - - nd DNA - - Price et al., 2013 1 published -
+/+ g.76899_76901dup c.1400_402dup Duplication 15_ex - p.Leu468* - nonsense RB1_01868 germline E6122 bilateral rb germline blood DNA unknown isolated Lohmann, Germany:Essen 1 unpublished -
?/+ g.76899_76902dup c.1400_1403dup insertion 15_ex - - - frameshift RB1_00819 - Fam747 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76900_76910dup c.1402_1412dup insertion 15_ex - p.Gln471Hisfs*11 - frameshift RB1_00257 unknown #139 bilateral rb germline retinoblastoma DNA Heterozygous isolated Sippel et al., 1998 1 published -
?/? g.76902insGATT c.1403insGATT Insertion 15_ex - - - frameshift RB1_01625 germline bilateral_281 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.76910C>T c.1411C>T substitution 15_ex - p.Gln471X - nonsense RB1_00976 - Fam644 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76910C>T c.1411C>T substitution 15_ex - p.Gln471X - nonsense RB1_00976 - Fam668 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76910C>T c.1411C>T substitution 15_ex - p.Gln471X - nonsense RB1_00976 - D10 other cancer - acral melanoma cell line DNA - - Bloethner et al., 2003 1 published melanoma
+/? g.76910C>T c.1411C>T substitution 15_ex - p.Gln471X - nonsense RB1_00976 - IRB4 unilateral rb somatic Retinoblastoma Tumor DNA heterozygous isolated Iran:Tehran 1 unpublished -
?/+ g.76912_76915dup c.1413_1416dup insertion 15_ex - p.Phe473Lysfs*3 - frameshift RB1_00100 unknown RB270 unilateral rb somatic retinoblastoma DNA hemi/homozygous - Shimizu et al., 1994 1 published -
?/+ g.76913_76944del c.1414_1421+24del deletion 15_ex - 480X - frameshift RB1_00665 - Fam248 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.76914delA c.1415delA Deletion 15_ex - p.(Asn472Ilefs*6) - frameshift RB1_01927 unknown Supp_Tab_Mt-63 - - nd DNA - - Price et al., 2013 1 published -
?/? g.76915_76916insAAA c.1416_1417insAAA Insertion 15_ex - p.Asn472_Phe473insLys - missense RB1_01810 somatic S82886 retinoblastoma somatic tumor DNA - unknown COSMIC - COSM913 1 published -
?/? g.76918_76962del c.1419_1422+39del deletion 15_ex skip exon 15 skip exon 15 - splice RB1_00666 unknown Fam41 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.76919del c.1420del Deletion 15_ex - p.(Ser474Alafs*4) - frameshift RB1_02067 germline P_20140723_2 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/+ g.76919_76948del c.1420_1421+28del deletion 15_ex - 477X - frameshift RB1_00101 - RB495 bilateral rb germline blood DNA not reported - Blanquet et al., 1995 1 published -
+/? - c.1420_1421+30del Deletion 15_ex - p.Ser474Phefs*8 - frameshift RB1_01980 somatic fam-no_20061141 retinoblastoma somatic blood, tumour DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published -
?/? g.76918_76949del c.1420_1451del Deletion 15_ex - p.(Ser474Valfs*8) - frameshift RB1_02066 germline P_20140723_266 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/? g.76920del c.1421del complex 15_ex altered splicing - - splice RB1_00245 - not provided unilateral rb germline retinoblastoma DNA - - Leone et al. (2003) J Hum Genet 48(12): 639-41. 1 published -
?/? g.76920del c.1421del complex 15_ex altered splicing - - splice RB1_00245 - E1122 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.76920G>A c.1421G>A substitution 15_ex altered splicing - - splice RB1_00715 - Fam893 unilateral rb somatic retinoblastoma DNA - possibly familial not reported, BL Gallie - Toronto 1 unpublished -
?/? g.76920G>A c.1421G>A substitution 15_ex altered splicing - - splice RB1_00715 - Fam441 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.76920G>A c.1421G>A substitution 15_ex altered splicing - - splice RB1_00715 - T13 unilateral rb germline blood DNA - - Zhang et al. (2008) Hum Mutat 29:475 1 published -
?/? g.76920G>A c.1421G>A substitution 15_ex altered splicing - - splice RB1_00715 somatic S86828 retinoblastoma somatic nd DNA - - Leone et al., 2003 (COSM1050) 1 published probably damaging/ deleterious
?/? g.76920G>A c.1421G>A substitution 15_ex altered splicing - - splice RB1_00715 germline RB4tunesia bilateral rb germline blood DNA - isolated - 1 unpublished -
?/? g.76920G>C c.1421G>C Substitution 15_ex - p.Ser474Thr - missense RB1_01682 germline ge_uni_iso_tu32 unilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.76920G>T c.1421G>T Substitution 15_ex splice - - splice RB1_01626 germline bilateral_285 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.76921G>A c.1421+1G>A substitution 15_in altered splicing - - splice RB1_00313 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.76921G>A c.1421+1G>A substitution 15_in altered splicing - - splice RB1_00313 - E774 bilateral rb - nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.76921G>C c.1421+1G>C substitution 15_in altered splicing - - splice RB1_00917 - Fam771 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.76922T>C c.1421+2T>C substitution 15_in altered splicing - - splice RB1_00270 germline E615 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.76923A>T c.1421+3A>T substitution 15_in altered splicing - - splice RB1_01245 - Rb221 rb germline blood DNA - - Tsai et al. (2004) Arch Ophthalmol 122:239 1 published -
?/? g.76923_76943del c.1421+3_1421+23del deletion 15_in altered splicing - - splice RB1_00258 - #385 bilateral rb germline blood DNA not reported - Sippel et al., 1998 1 published -
?/? g.76923_76943del c.1421+3_1421+23del deletion 15_in altered splicing - - splice RB1_00258 - Fam788 bilateral rb germline nd DNA - - not reported, BL Gallie - Toronto 1 unpublished -
?/? g.76923_76950del28 c.1421+3_1421+30del Deletion 15_in - - - splice RB1_01745 somatic ng_un_is_tu_401 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.76929T>C c.1421+9T>C Substitution 15_in - - - unknown RB1_01840 somatic 1KG_13_48954229 no cancer somatic nd DNA - - http://www.1000genomes.org/ 1 published -
?/? g.76932_76952del c.1421+12_1421+32del deletion 15_in altered splicing - - splice RB1_00200 - TS78 rb germline blood DNA not reported familial Liu et al., 1995 1 published -
?/? g.76938_76952del15 c.1421+18_1421+32del15 Deletion 15_in splice_donor - - splice RB1_01893 unknown Supp_Tab_Mt-64 - - nd DNA - - Price et al., 2013 1 published -
?/? g.76938_76953del16 c.1421+18_1421+33del16 Deletion 15_in splice_donor - - splice RB1_01894 unknown Supp_Tab_Mt-65 - - nd DNA - - Price et al., 2013 1 published -
?/? g.76938_76958del c.1421+18_1421+38del deletion 15_in altered splicing - - splice RB1_00505 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.76938_76958del c.1421+18_1421+38del deletion 15_in altered splicing - - splice RB1_00505 - F3383 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.76938_76958del c.1421+18_1421+38del deletion 15_in altered splicing - - splice RB1_00505 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.76940_76953del c.1421+20_1421+33del deletion 15_in altered splicing - - splice RB1_00487 - RB72 bilateral rb germline blood DNA - familial Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/? g.76983T>C c.1422-18T>C substitution 15_in - unknown - - RB1_01308 - KS-228 other tumor germline osteosarcoma DNA heterozygous - Wadayama et al., 1994 1 published -
?/? g.76993del c.1422-8del deletion 15_in - unkown - - RB1_01307 - KS-152 other tumor - osteosarcoma DNA heterozygous - Wadayama et al., 1994 1 published -
?/? g.76993del c.1422-8del deletion 15_in - unkown - - RB1_01307 - not provided rb germline blood DNA - - Leone et al. (2003) J Hum Genet 48(12): 639-41. 1 published -
?/? g.76999A>G c.1422-2A>G substitution 15_in altered splicing - - splice RB1_00206 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.76999A>G c.1422-2A>G substitution 15_in altered splicing - - splice RB1_00206 - not provided bilateral rb - nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.76999A>G c.1422-2A>G substitution 15_in altered splicing - - splice RB1_00206 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.76999A>G c.1422-2A>G substitution 15_in altered splicing - - splice RB1_00206 - F1955 rb germline blood DNA - familial lp Taylor et al. (2007) Hum Mutat 28: 284 1 published -
+/? g.77000G>T c.1422-1 Substitution 15 - - - splice RB1_01536 germline 459 bilateral rb germline leukocytes DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
?/? g.77000G>A c.1422-1G>A substitution 15_in skip exon 16 skip exon 16 - splice RB1_00638 - not provided bilateral rb germline nd DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.77000G>A c.1422-1G>A substitution 15_in skip exon 16 skip exon 16 - splice RB1_00638 - Fam38 bilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/? g.77000G>A c.1422-1G>A substitution 15_in skip exon 16 skip exon 16 - splice RB1_00638 - Fam772 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.77000G>C c.1422-1G>C substitution 15_in altered splicing - - splice RB1_00352 - JA143 bilateral rb germline blood DNA - isolated Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/? g.77000G>C c.1422-1G>C substitution 15_in altered splicing - - splice RB1_00352 - E2578 - - nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.77002A>T c.1423A>T Substitution 16_ex - p.Lys475X - nonsense RB1_01729 somatic ng_un_is_tu_301 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.77003ins10 c.1424_1425ins10 insertion 16_ex - 476X - frameshift RB1_00698 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.77003ins10 c.1424_1425ins10 insertion 16_ex - 476X - frameshift RB1_00698 - T6 unilateral rb - retinoblastoma DNA heterozygous isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/? g.77014delG c.1435delG Substitution 16_ex - - - frameshift RB1_01784 germline ge_is_notu_27 no cancer germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.77018del c.1439del deletion 16_ex - p.Asn480Thrfs*15 - frameshift RB1_00779 unknown not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.77018dup c.1439dup insertion 16_ex - p.Asn480Lysfs*13 - frameshift RB1_00103 unknown GOS568 unilateral rb somatic retinoblastoma DNA - - Hogg et al., 1993 1 published -
?/+ g.77018dup c.1439dup insertion 16_ex - p.Asn480Lysfs*13 - frameshift RB1_00103 unknown not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.77018dup c.1439dup insertion 16_ex - p.Asn480Lysfs*13 - frameshift RB1_00103 unknown Fam833 bilateral rb germline nd DNA - - not reported, BL Gallie - Toronto 1 unpublished -
?/? g.77017dupA c.1439dup Duplication 16_ex - p.Asn480Lysfs*13 - frameshift RB1_01553 somatic S84215 retinoblastoma somatic nd DNA - - COSMIC - COSM939, Hogg et al., 1993 1 published -
?/? g.77018_77020del c.1439_1441del deletion 16_ex yes p.Ans480del - in-frame RB1_00102 - G281 bilateral rb germline inherited blood DNA - familial Lohmann et al., 1992 1 published -
?/? g.77018_77020del c.1439_1441del deletion 16_ex yes p.Ans480del - in-frame RB1_00102 - Fam54 unilateral rb somatic retinoblastoma DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.77018_77020del c.1439_1441del deletion 16_ex yes p.Ans480del - in-frame RB1_00102 - not provided - - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.77018_77020del c.1439_1441del deletion 16_ex yes p.Ans480del - in-frame RB1_00102 - not provided - germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.77018_77020del c.1439_1441del deletion 16_ex yes p.Ans480del - in-frame RB1_00102 - not provided - germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.77018_77020del c.1439_1441del deletion 16_ex yes p.Ans480del - in-frame RB1_00102 - Fam727 bilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.77018_77020del c.1439_1441del deletion 16_ex yes p.Ans480del - in-frame RB1_00102 - Fam891 unilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.77018_77019del c.1440_1441del deletion 16_ex - p.Ile481Phefs*11 - frameshift RB1_00699 unknown not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.77018_77019del c.1440_1441del deletion 16_ex - p.Ile481Phefs*11 - frameshift RB1_00699 unknown T7 unilateral rb - retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/? g.77019_77025dup c.1443_1449dup Insertion 16_ex - p.(Met484Phefs*11) - frameshift RB1_02068 germline P_20140723_285 bilateral rb germline blood DNA unknown familial Houdayer - Paris 1 unpublished -
?/+ g.77024_77025del c.1445_1446del deletion 16_ex - p.(Phe482Serfs*10) - frameshift RB1_00104 unknown E559 unilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/+ g.77025dup c.1446dup insertion 16_ex - p.His483Serfs*10 - frameshift RB1_00317 germline E2227 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.77026C>T c.1447C>T Substitution 16_ex - p.His483Tyr [His483Tyr] unknown RB1_01453 - nd retinoblastoma - blood RNA heterozygous familial low penetrance Serrano et al. (2011), Fam Cancer. 2011 May 3 1 published -
?/? g.77026_77027delCA c.1447_1448del Deletion 16_ex - p.His483Tyrfs*9 - frameshift RB1_01556 somatic S82785 retinoblastoma somatic nd DNA - - Lohmann et al, 1997, (COSM896) 1 published -
?/? g.77027delA c.1448del Deletion 16_ex - p.His483Leufs*12 - missense RB1_01776 germline #9 bilateral rb germline blood DNA - isolated Seo et al., 2012 1 published -
?/? g.77026_77027insA c.1448dup Insertion 16_ex - p.His483Glnfs*10 - frameshift RB1_01554 unknown rs34873197 - - nd DNA - - dbSNP 1 published -
?/? g.77027dupA c.1448dup Duplication 16_ex - p.His483Glnfs*10 - unknown RB1_01555 unknown rs5803433 - - nd DNA - - dbSNP 1 published -
?/? g.77027insT c.1448insT Insertion 16_ex - - - frameshift RB1_01627 germline bilateral_293 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.77028dup c.1449dup insertion 16_ex - p.Met484Tyrfs*9 - frameshift RB1_00820 unknown Fam222 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
1801 - 1900
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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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