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LOVD - Variant listings for RB1

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?/+ g.61737dup c.869dup insertion 09_ex - p.Asn290Lysfs*20 - frameshift RB1_00364 unknown E2665 - germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/+ g.61737dup c.869dup insertion 09_ex - p.Asn290Lysfs*20 - frameshift RB1_00364 unknown Fam866 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.61737dup c.869dup insertion 09_ex - - - - RB1_00955 - Fam163 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.61744 c.876T>G Substitution 09_ex - p.Tyr292X - nonsense RB1_01615 somatic bilateral_129 bilateral rb mosaicism blood DNA - unknown not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.61744dupT c.878dup Duplication 09_ex - p.Lys294Glnfs*16 - unknown RB1_01542 unknown rs67246835 retinoblastoma - nd DNA - - dbSNP 1 published -
?/+ g.61748_61763dup c.880_895dup insertion 09_ex - p.(Phe299*) - frameshift RB1_00068 unknown RB493 bilateral rb germline blood DNA not reported - Blanquet et al., 1995 1 published -
?/? g.61749delA c.884delA Deletion 09_ex - - - frameshift RB1_01612 germline bilateral_125 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 published -
?/? g.61748dupA c.884dup Duplication 09_ex - p.Asn295Lysfs*15 - unknown RB1_01543 unknown rs66519118 retinoblastoma unknown nd DNA - - dbSNP 1 published -
?/+ g.61750_61753del c.885_888del deletion 09_ex - p.(Asn295Lysfs*5) - frameshift RB1_00534 unknown JA263 bilateral rb germline blood DNA - familial Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/+ g.61756del c.888del deletion 09_ex - p.Phe296Leufs*5 - frameshift RB1_00499 unknown not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.61757del c.889del Deletion 09_ex - p.Ile297Tyrfs*4 - frameshift RB1_01579 germline RB65tunesia bilateral rb germline blood DNA - isolated - 1 unpublished -
?/+ g.61761del c.893del deletion 09_ex - p.Pro298Leufs*3 - frameshift RB1_00776 unknown not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.61761del c.893del deletion 09_ex - p.Pro298Leufs*3 - frameshift RB1_00776 unknown not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.61764_61777del14 c.896_909del14 Deletion 09_ex - p.(Phe299Trpfs*6) - frameshift RB1_01939 unknown Supp_Tab_Mt-42 - - nd DNA - - Price et al., 2013 1 published -
?/+ g.61770dup c.902dup insertion 09_ex - p.Asn301Lysfs*9 - frameshift RB1_00985 germline E4125 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.61773delC c.905delC Deletion 09_ex - - - unknown RB1_01613 germline bilateral_126 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
+/? - c.907_908del Deletion 09_ex - p.Leu303Trpfs*6 - frameshift RB1_01972 germline fam-no_20063093 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published -
?/? g.61776T>A c.908T>A substitution 09_ex - p.Leu303His - missense RB1_00705 - not provided bilateral rb germline blood DNA - isolated Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.61777del c.909del deletion 09_ex - p.Gly304Aspfs*3 - frameshift RB1_00069 unknown G1115 bilateral rb germline blood DNA - isolated Lohmann et al., 1994 1 published -
?/? g.61778G>T c.910G>T Substitution 09_ex - p.Gly304X - unknown RB1_01614 germline bilateral_128 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.61782T>G c.914T>G Substitution 09_ex - p.Leu305Arg Leu305Arg unknown RB1_01434 - nd retinoblastoma - nd DNA - - - 1 - -
?/? g.61784_61790del c.916_922del Deletion 09_ex - p.(Val306Leufs*24) - frameshift RB1_02058 germline P_20140723_146 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
+/+ g.61784_61801del c.916_933del Deletion 09_ex - p.(Val306_Leu311del) - in-frame RB1_01471 somatic E5419 unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann, Germany:Essen 1 unpublished -
?/? g.61788C>T c.920C>T substitution 09_ex - p.Thr307Ile Thr307Ile missense RB1_00395 - Fam171 unilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published Tumor showed hetero Ser618X and hetero Thr307Iso. Blood showed only Thr307Iso.
?/? g.61788C>T c.920C>T substitution 09_ex - p.Thr307Ile Thr307Ile missense RB1_00395 - 3u unilateral rb germline blood DNA - familial lp - 1 published -
?/? g.61788C>T c.920C>T substitution 09_ex - p.Thr307Ile Thr307Ile missense RB1_00395 - RB-29 unilateral rb germline blood DNA - isolated Parsam et al. (2009) J Genet. 2009 Dec;88(4):517-27. 1 published -
?/? g.61788C>T c.920C>T substitution 09_ex - p.Thr307Ile Thr307Ile missense RB1_00395 - 836 unilateral rb - blood DNA - - - 1 - Hetero Thr307Iso in blood; no tumor available. Unaffected mother also carries this change. Previously encountered in another lab in three unaffected relatives of an isolated uni proband.
+/? g.61788C>T c.920C>T substitution 09_ex - p.Thr307Ile Thr307Ile missense RB1_00395 unknown Tab_1_26 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/? g.61788_89delinsTGGACT c.920_921delinsTGGACT complex 09_ex - p.Thr307Metfs*4 - unknown RB1_01273 unknown 0753 unilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.61796del c.928del deletion 09_ex - - - frameshift RB1_00883 - Fam4 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.61796del c.928del deletion 09_ex - - - frameshift RB1_00883 - Fam12 unilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 unpublished -
?/+ g.61796G>T c.928G>T substitution 09_ex - p.Gly310X - nonsense RB1_00658 - Fam40 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/-? g.61797G>A c.929G>A substitution 09_ex - p.Gly310Glu - missense RB1_01029 - not provided no cancer - nd DNA - - Klutz et al ., 1999 1 published -
?/? g.61797G>A c.929G>A substitution 09_ex - p.Gly310Glu - missense variant RB1_00070 - not provided unilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.61797G>A c.929G>A substitution 09_ex - p.Gly310Glu Gly310Glu missense variant RB1_00070 - 9 unilateral rb - Blood/Tumor DNA - - - 1 unpublished Caucasian
?/? g.61797G>A c.929G>A substitution 09_ex - p.Gly310Glu - missense variant RB1_00070 unknown 14 254 bilateral rb unknown nd DNA unknown unknown Munier - Lausanne 1 - Mutation found in father
?/+ g.61799del c.931del deletion 09_ex - p.Leu311Phefs*21 - frameshift RB1_01219 unknown 0723 unilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.61806A>G c.938A>G substitution 09_ex - p.Glu313Gly/splice - missense-splice RB1_00500 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.61807G>A c.939G>A substitution 09_ex - del:e9/p.Glu313Asp - missense-splice RB1_00377 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.61807G>A c.939G>A substitution 09_ex - del:e9/p.Glu313Asp - missense-splice RB1_00377 - E2639 - germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.61807G>A c.939G>A substitution 09_ex - del:e9/p.Glu313Asp - missense-splice RB1_00377 - Fam138 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.61807G>A c.939G>A substitution 09_ex - del:e9/p.Glu313Asp - missense-splice RB1_00377 - E7 bilateral rb germline blood DNA - - Zhang et al. (2008) Hum Mutat 29: 475 1 published -
?/? g.61807G>T c.939G>T substitution 09_ex - p.Glu313Asp/splice - splice RB1_01243 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.61811A>G c.939+4A>G substitution 09_in altered splicing - - splice RB1_01257 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.61894T>C c.939+87T>C substitution 09_in - variant - variant RB1_01030 - not provided no cancer germline blood DNA - - dbSNP 1 published originally published in: Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409
?/? g.64219C>T c.940-111C>T substitution 09_in - variant - variant RB1_01104 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.64295T>C c.940-35T>C substitution 09_in - variant - variant RB1_01072 - not provided no cancer - nd DNA - - Lohmann - Essen 1 published -
+/? - c.940-2A>C Substitution 09_in - - - splice RB1_01973 germline fam-no_19953116 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published A>T, A>G reported in LOVD. No RNA available Predicted: alters the acceptor splice site of intron 9, leading to a skip of exon 10.
?/? g.64328A>G c.940-2A>G substitution 09_in altered splicing - - splice RB1_00312 - not provided - somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.64328A>G c.940-2A>G substitution 09_in altered splicing - - splice RB1_00312 - not provided - germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.64328A>G c.940-2A>G substitution 09_in altered splicing - - splice RB1_00312 - E14 bilateral rb germline blood DNA - - Zhang et al. (2008) Hum Mutat 29: 475 1 published -
?/? g.64328A>T c.940-2A>T Substitution 09_in altered splicing - - unknown RB1_01473 somatic NCI-H446 other cancer somatic tumor DNA - - COSMIC - COSM28816 1 published -
?/? g.64328A>T c.940-2A>T Substitution 09_in altered splicing - - unknown RB1_01473 somatic NCI-H82 other cancer somatic tumor DNA - - COSMIC - COSM13742 1 published -
?/? g.64329G>A c.940-1G>A Substitution 09_in splice - - splice RB1_01709 somatic ng_un_is_tu_204 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 - -
?/? g.64329G>C c.940-1G>C substitution 09_in altered splicing - - splice RB1_00195 - G447 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/? g.64329G>C c.940-1G>C substitution 09_in altered splicing - - splice RB1_00195 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.64329G>T c.940-1G>T substitution 09_in altered splicing - - splice RB1_00223 - E1038 bilateral rb germline blood DNA hemi/homozygous familial Lohmann - Essen 1 unpublished -
?/? g.61808G>A c.940G>A Substitution 09_in - - - unknown RB1_01461 unknown 22 682 unilateral rb - nd DNA - - Munier - Lausanne 1 - -
?/+ g.64341_64344del c.951_954del deletion 10_ex - p.(Ser318Asnfs*13) - frameshift RB1_00320 unknown not provided - somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64341_64344del c.951_954del deletion 10_ex - p.(Ser318Asnfs*13) - frameshift RB1_00320 unknown not provided bilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64341_64344del c.951_954del deletion 10_ex - p.(Ser318Asnfs*13) - frameshift RB1_00320 unknown Fam617 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.64341_64344del c.951_954del
    + c.1399C>T		 deletion 10_ex - p.Asp330X - frameshift RB1_00320 somatic E2276 bilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - new germline mutation
?/+ g.64342del c.952del deletion 10_ex - p.Ser318Leufs*14 - frameshift RB1_00735 germline E4126 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.64342dup c.952dup insertion 10_ex - p.Ser318Phefs*2 - frameshift RB1_00284 somatic E1433 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.64344del c.954del deletion 10_ex - p.(Lys319Asnfs*13) - frameshift RB1_00224 germline E764 bilateral rb germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.64346A>G c.956A>G substitution 10_ex - p.Lys319Arg - missense RB1_00696 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/? g.64346A>G c.956A>G substitution 10_ex - p.Lys319Arg - missense RB1_00696 - T16 unilateral rb - retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided - germline blood DNA not reported - Cowell et al., 1994 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - GOS559 unilateral rb - retinoblastoma DNA - - Hogg et al., 1993 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - BB17 rb germline blood DNA not reported familial Liu et al., 1995 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - M3293 unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E571T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E604T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E629T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E673 unilateral rb germline blood DNA - isolated Lohmann et al., 1997 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - G372 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - G371 rb germline blood DNA - familial Lohmann et al., 1996 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - G432 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - M1317 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E605 bilateral rb germline inherited blood DNA - familial Yilmaz et al., 1998 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E786T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E1093T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - E1106T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - #452 bilateral rb somatic blood DNA not reported familial Sippel et al., 1998 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - HC6 unilateral rb germline retinoblastoma DNA - isolated Braggio et al. (2004) J Clin Pathol 57(6): 585-90. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - RB27 unilateral rb germline retinoblastoma DNA homozygous - Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam169 bilateral rb somatic nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam17 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam175 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam22 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam28 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam231 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam232 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam356 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam555 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Fam618 bilateral rb germline nd DNA - - Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Yu13 bilateral rb germline blood DNA - isolated Choy et al. (2002) Hum Mutat 20(5): 408. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - Yu44 bilateral rb germline blood DNA - isolated Choy et al. (2002) Hum Mutat 20(5): 408. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - JA133 bilateral rb germline blood DNA - isolated Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/+ g.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
901 - 1000
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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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