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LOVD - Variant listings for RB1

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?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - 17b rb germline nd DNA - - - 1 - -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - 132 bilateral rb germline blood DNA - familial Dalamon et al. (2004) J Biochem Mol Biol 37: 246 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - 227 unilateral rb germline blood DNA - isolated Dalamon et al. (2004) J Biochem Mol Biol 37: 246 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - 1303 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - 8 bilateral rb - retinoblastoma DNA - - Van Orsouw et al. (1996) Hum Mol Genet 5: 755 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - T29 unilateral rb - retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - F2807 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - 18 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - 19 unilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - 20 unilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - fRB34/RB-198T bilateral rb germline retinoblastoma DNA - isolated Najera et al. (2001) Med Clin (Barc) 116: 365 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - RB-75 bilateral rb germline blood DNA - isolated - 1 published -
+/? g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - IRB23 bilateral rb somatic Retinoblastoma Tumor DNA hemi/homozygous isolated Iran:Tehran 1 - -
+?/? g.150037C>T c.1735C>T Substitution 18_ex - p.Arg579X - nonsense RB1_00129 unknown 375 bilateral rb germline blood DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
?/? g.150037C>T c.1735C>T
    + c.1332+1del		 substitution 18_ex - p.Arg579X - nonsense RB1_00129 somatic E1103 bilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 unpublished new germline mutation
?/? g.150037C>T c.1735C>T
    + c.1333C>T		 substitution 18_ex - p.Arg579X - nonsense RB1_00129 somatic E2150 bilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - new germline mutation
?/? g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 germline Rb12 bilateral rb germline blood DNA - isolated Ata-ur-Rasheed et al. (2002) Ophthalmic Genet.(2):121-8. 1 published -
?/? g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 somatic SW1783 other cancer somatic nd DNA - - COSMIC - COSM892 1 published -
+/? g.150037C>T c.1735C>T Substitution 18_ex - p.Arg579X - nonsense RB1_00129 germline 375 bilateral rb germline leukocytes DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
?/? g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 germline RB11tunesia bilateral rb germline blood DNA - isolated - 1 - -
?/? g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 germline #12 bilateral rb germline blood DNA - isolated Seo et al., 2012 1 published -
?/? g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 somatic #39/2013 unilateral rb mosaicism blood DNA unknown isolated Renieri- Siena 1 unpublished -
?/? g.150037C>T c.1735C>T Substitution 18_ex - p.Arg579X - nonsense RB1_00129 unknown Tab_1_13 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 3 published -
+/? g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 germline RB12 bilateral rb germline blood DNA - isolated Malaysia:Kuala Lumpur 1 unpublished -
?/? g.150055C>T c.1753C>T Substitution 18_ex - p.His585Tyr - missense RB1_01406 - GKU5546 unilateral rb germline blood DNA - familial Anthony Raizis 1 - Detected in 62 y old European, de novo in mother
?/? g.150055C>T c.1753C>T Substitution 18_ex - p.His585Tyr - missense RB1_01406 - BG#504 retinoblastoma - nd DNA - familial - 1 unpublished -
?/+ g.150091C>T c.1789C>T substitution 18_ex - p.Gln597X - nonsense RB1_00230 somatic E1338 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
+/+? g.153254C>T c.1861C>T Substitution 19_ex - p.Arg621Cys - missense RB1_01392 - Dox65 other cancer germline tumor RNA heterozygous unknown Berge et al. (2010) Mol Cancer. 2010 Jul 1;9:173. 1 published isolated breast cancer
?/+ g.153284C>T c.1891C>T substitution 19_ex - p.Gln631X - nonsense RB1_00139 - E844T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.153284C>T c.1891C>T substitution 19_ex - p.Gln631X - nonsense RB1_00139 - RB55 bilateral rb germline blood DNA - familial Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/+ g.153284C>T c.1891C>T substitution 19_ex - p.Gln631X - nonsense RB1_00139 - not provided bilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.153292C>T c.1899C>T substitution 19_ex - - - - RB1_00900 - Fam593 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.153302C>T c.1909C>T substitution 19_ex - p.Gln637X - nonsense RB1_00529 - Fam27 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.153302C>T c.1909C>T substitution 19_ex - p.Gln637X - nonsense RB1_00529 - Fam13 unilateral rb somatic retinoblastoma DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 unpublished -
?/+ g.153302C>T c.1909C>T substitution 19_ex - p.Gln637X - nonsense RB1_00529 - JA103 bilateral rb germline blood DNA - isolated Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/+ g.153302C>T c.1909C>T substitution 19_ex - p.Gln637X - nonsense RB1_00529 - Fam149 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
+/+ g.153302C>T c.1909C>T
    + c.265G>T		 substitution 19_ex - p.Gln637X - nonsense RB1_00529 - E5454-T unilateral rb somatic tumor DNA heterozygous isolated Lohmann, Germany:Essen 1 unpublished -
?/+ g.153308C>T c.1915C>T substitution 19_ex - p.Gln639X - nonsense RB1_00143 - G377 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/? g.156698C>T c.1966C>T substitution 20_ex - p.Arg656Trp - missense RB1_00403 - Fam13 unilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.156698C>T c.1966C>T substitution 20_ex - p.Arg656Trp - missense RB1_00403 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
-?/-? g.156698C>T c.1966C>T
    + c.1693_1694dup, c.1815-5T>C, c.1876G>A		 substitution 20_ex - p.Arg656Trp - missense RB1_00403 unknown #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.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - G1141 unilateral rb germline blood DNA - isolated Lohmann et al., 1997 1 published -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - E522 rb germline blood DNA - familial Lohmann et al., 1994 1 published -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - G422 bilateral rb germline inherited blood DNA - familial Lohmann et al., 1994 1 published -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - RBF29 rb germline blood DNA - familial Onadim et al., 1992 1 published -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - not provided rb germline blood DNA - - Scheffer et al. (2000) J Med Genet 37:E6 1 published -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - Fam123 unilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - Fam420 unilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - Fam464 unilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - Fam242 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - Fam310 unilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - Fam604 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - Fam624 bilateral rb germline nd DNA - - Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - Rb 177 rb germline blood DNA - - Tsai et al. (2004) Arch Ophthalmol 122:239 1 published -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - not provided unilateral rb germline blood DNA - familial Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - not provided bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - E4838 unilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - E4747 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - E3914 bilateral rb germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - Fam766 unilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - Fam947 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - 27 bilateral rb - blood DNA - - Van Orsouw et al. (1996) Hum Mol Genet 5: 755 1 published -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - T3 unilateral rb - retinoblastoma DNA - familial Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - F3897 bilateral rb germline blood DNA - familial lp Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - F3282 rb germline blood DNA - familial lp Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - 22 unilateral rb germline blood DNA - familial Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - not provided rb germline blood DNA - - Zhang et al. (1997) Yan Ke Xue Bao 13: 5 1 published -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - RB-60 bilateral rb germline blood DNA - isolated - 1 published -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - RB-73 bilateral rb germline blood DNA - isolated - 1 published -
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - Fam1187 unilateral rb unknown 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 showed het c.45_53del
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 - Case No. 18 other cancer somatic tumor RNA unknown unknown Miyomoto et al. (1995) Br J Cancer. 1995 Apr;71(4):831-5. 1 published bladder cancer
?/? g.156713C>T c.1981C>T
    + c.1695+5G>C		 substitution 20_ex - p.Arg661Trp - missense RB1_00019 germline E1657 unilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 unpublished new germline mutation
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 somatic TCGA-12-0619 other cancer somatic nd DNA - - COSMIC - COSM861 1 published probably damaging / deleterious
+/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 unknown Tab_1_32 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/? g.49033844C>T c.1981C>T Substitution 20 - p.(Arg661Trp) - unknown RB1_00019 germline #198 bilateral rb - blood DNA - familial low penetrance Italy:Siena 1 published partial inactivation of pRb activity. Hypomorphic mutation and parental of origin effect
?/? g.156713C>T c.1981C>T substitution 20_ex - p.Arg661Trp - missense RB1_00019 germline #3812/16 unilateral rb - blood DNA - familial low penetrance Italy:Siena 1 published partial inactivation of pRb activity. Hypomorphic mutation and parental of origin effect
?/? g.156716C>T c.1984C>T substitution 20_ex - p.Leu662Leu - - RB1_01322 - T16 unilateral rb - retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/+ g.156785C>T c.2053C>T substitution 20_ex - p.Gln685X - frameshift RB1_01334 - fRB44 bilateral rb germline retinoblastoma DNA - isolated Najera et al. (2001) Med Clin (Barc) 116: 365 1 published -
?/? g.156785C>T c.2053C>T substitution 20_ex - p.Gln685X - frameshift RB1_01334 somatic ECC10 other cancer somatic nd DNA - - COSMIC - COSM13117 1 published -
?/? g.156793C>T c.2061C>T Substitution 20_ex - - - unknown RB1_01823 unknown rs113432974 - unknown nd DNA - - dbSNP 1 published -
?/+ g.156797C>T c.2065C>T substitution 20_ex - p.Gln689X - nonsense RB1_00942 - Fam684 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.156797C>T c.2065C>T substitution 20_ex - p.Gln689X - nonsense RB1_00942 - Fam842 bilateral rb germline nd DNA - - not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.156836C>T c.2104C>T substitution 20_ex - p.Gln702X - nonsense RB1_00380 somatic E4909 bilateral rb somatic tumor DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.156836C>T c.2104C>T substitution 20_ex - p.Gln702X - nonsense RB1_00380 somatic HT-1376 other cancer somatic nd DNA - - COSMIC - COSM22911 1 published -
?/? g.156974C>T c.2106+136C>T substitution 20_in - variant - variant RB1_01121 - not provided no cancer - nd DNA - - dbSNP 1 published -
+/+ g.160829C>T c.2206C>T Substitution 21_ex - p.Gln736* - nonsense RB1_01762 somatic E5895 unilateral rb somatic retinoblastoma DNA hemi/homozygous isolated Lohmann, Germany:Essen 1 unpublished -
+/? g.160829C>T c.2208C>T Substitution 21 - - - nonsense RB1_01535 germline 194 bilateral rb germline leukocytes DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
+/? g.160829C>T c.2208C>T Substitution 21 - - - nonsense RB1_01535 germline 194 bilateral rb germline leukocytes DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
?/? g.160829C>T c.2208C>T Substitution 21_ex - - - nonsense RB1_01535 germline RB63tunesia bilateral rb germline blood DNA - familial - 1 unpublished -
?/? g.161983C>T c.2212-14C>T Substitution 21_in - - - unknown RB1_01844 somatic rs80122842 no cancer somatic nd DNA - - dbSNP 1 published -
?/+ g.162069C>T c.2284C>T substitution 22_ex - p.Gln762* - nonsense RB1_01198 somatic 4 bilateral rb - retinoblastoma DNA - - Van Orsouw et al. (1996) Hum Mol Genet 5: 755 1 published -
?/+ g.162093C>T c.2308C>T substitution 22_ex - p.Gln770X - nonsense RB1_00328 - Fam42 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.162093C>T c.2308C>T substitution 22_ex - p.Gln770X - nonsense RB1_00328 - E2176 - germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162093C>T c.2308C>T substitution 22_ex - p.Gln770X - nonsense RB1_00328 - Fam858 bilateral rb somatic retinoblastoma DNA - - not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.162093C>T c.2308C>T substitution 22_ex - p.Gln770X - nonsense RB1_00328 - Fam859 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - Nidp bilateral rb germline blood DNA not reported - Cowell et al., 1994 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - E508 unilateral rb germline blood DNA - isolated Lohmann et al., 1997 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - G917 bilateral rb germline blood DNA - familial Lohmann et al., 1996 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - G433 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - G370 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
801 - 900
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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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