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LOVD - Variant listings for RB1

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?/? g.153354G>A c.1960+1G>A substitution 19_in altered splicing - - splice RB1_00216 - E538T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/? g.153354G>A c.1960+1G>A substitution 19_in altered splicing - - splice RB1_00216 - F4481 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.153354G>A c.1960+1G>A substitution 19_in altered splicing - - splice RB1_00216 - 21 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/? g.153354G>A c.1960+1G>A substitution 19_in altered splicing - - splice RB1_00216 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
+/? g.153354G>A c.1960+1G>A substitution 19_in altered splicing - - splice RB1_00216 germline RB1 bilateral rb germline blood DNA - isolated Malaysia:Kuala Lumpur 1 unpublished -
?/? g.153354G>T c.1960+1G>T Substitution 19_in splice_donor - - unknown RB1_01898 unknown Supp_Tab_Mt-82 - - nd DNA - - Price et al., 2013 1 published -
?/? g.153354_153359delins22bp c.1960+1_1960+6delins22 Other/Complex 19_in splice_donor - - unknown RB1_01897 unknown Supp_Tab_Mt-81 - - nd DNA - - Price et al., 2013 1 published -
?/? g.153355T>C c.1960+2T>C substitution 19_in altered splicing - - splice RB1_00002 - RB-88 unilateral rb somatic retinoblastoma DNA - - Yandell et al., 1989 1 published -
+/? - c.1960+2T>G Substitution 19_in - - - splice RB1_01987 germline fam-no_19902122 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published T>C reported in LOVD No RNA available Predicted: located in the donor splice site of intron 19, leading to a skip of exon 19
?/? g.153355insG c.1960+2_1960+3insG insertion 19_in altered splicing - - splice RB1_00261 - #218 bilateral rb somatic blood DNA not reported - Sippel et al., 1998 1 published -
?/? g.153358G>C c.1960+5G>C substitution 19_in altered splicing - - splice RB1_01265 - Rb132 rb germline blood DNA - - Tsai et al. (2004) Arch Ophthalmol 122:239 1 published -
?/? g.49030490G>C c.1960+5G>C Substitution IVS19 r.1815_1960del p.(Met605Ilefs*14) - splice RB1_01265 germline #298/2014 bilateral rb mosaicism blood DNA - isolated Italy:Siena 1 published Loss of pocket B domain and C-termus
?/? g.156537T>C c.1961-156T>C substitution 19_in - variant - variant RB1_01116 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.156616A>G c.1961-77A>G substitution 19_in - variant - variant RB1_01056 - not provided no cancer - blood DNA - - Mateu et al., 1997 1 published -
?/? g.156616A>G c.1961-77A>G substitution 19_in - variant - variant RB1_01056 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.156616A>G c.1961-77A>G substitution 19_in - variant - variant RB1_01056 - case 3 bilateral rb germline blood DNA - - Dundar et al. (2001) Proc Natl Sci Counc Repub China B 25: 166 1 published -
?/? g.156616A>G c.1961-77A>G substitution 19_in - variant - variant RB1_01056 - not provided - unknown nd DNA - - dbSNP 1 - -
?/? g.156677>G c.1961-16T>G Substitution 19_in splice - - splice RB1_01645 germline bilateral_419 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.156690C>G c.1961-3C>G Substitution 19_in splice_acceptor - - splice RB1_01899 unknown Supp_Tab_Mt-83 - - nd DNA - - Price et al., 2013 1 published -
?/? g.156691A>G c.1961-2A>G substitution 19_in skip exon 19 skip exon 19 - splice RB1_00217 - E845T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/? g.156691A>G c.1961-2A>G substitution 19_in skip exon 19 skip exon 19 - splice RB1_00217 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.156691A>G c.1961-2A>G substitution 19_in skip exon 19 skip exon 19 - splice RB1_00217 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
+/+ g.156690C>G c.1961-1C>G Substitution 19_in - - - frameshift RB1_01852 germline E6001 bilateral rb germline blood DNA unknown isolated Lohmann, Germany:Essen 1 unpublished -
?/? g.156692G>A c.1961-1G>A Substitution 19_in Essential splice site - - unknown RB1_01487 somatic C-33-A other cancer somatic tumor DNA - - COSMIC - COSM1030 1 published -
?/? g.156692G>A c.1961-1G>A Substitution 19_in Essential splice site - - unknown RB1_01487 somatic SJRB004 retinoblastoma somatic tumor DNA - - COSM1030 Zhang et al., Nature. 2012;481;329-34 1 published -
?/? g.156692G>T c.1961-1G>T Substitution 19_in Essential splice site - - unknown RB1_01486 somatic TCGA-06-0184 other cancer somatic tumor DNA - - COSMIC - COSM35350 1 published -
?/? g.156693T>A c.1961T>A substitution 20_ex - p.Val654Glu - missense-splice RB1_00147 - RB209 bilateral rb germline blood DNA not reported - Blanquet et al., 1995 1 published -
?/? g.156693T>A c.1961T>A substitution 20_ex - p.Val654Glu - missense-splice RB1_00147 - Fam722 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.156693_156735dup43 c.1961_2003dup43 Duplication 20_ex - p.(Leu669Valfs*13) - frameshift RB1_01909 unknown Supp_Tab_Mt-84 - - nd DNA - - Price et al., 2013 1 published -
?/? g.156691_156838del c.1961_2106del Deletion 20_ex - p.Val654Aspfs*18 - unknown RB1_01796 somatic COLO-824 other cancer somatic tumor DNA unknown unknown - 1 published COSMIC - COSM19549
?/? g.156694_156695insTATC c.1962_1963insTATC Insertion 20_ex - - - frameshift RB1_01747 somatic ng_un_is_tu_413 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.156695dup c.1963dup insertion 20_ex - p.Tyr655Leufs*13 - frameshift RB1_00263 unknown RB-61 bilateral rb germline blood DNA - isolated Mateu et al., 1997 1 published -
?/+ g.156697T>A c.1965T>A substitution 20_ex - p.Tyr655X - nonsense RB1_00836 - Fam7 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.156695_156697del c.1965_1967del deletion 20_ex - p.Tyr655del - in-frame RB1_01311 - 151/96 bilateral rb germline blood DNA - familial Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 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.156698insAT c.1966_1967insAT insertion 20_ex - p.Arg656Hisfs*3 - frameshift RB1_01313 unknown R6 unilateral rb somatic blood DNA - isolated Bamme et al. (2005) Genet Test. 3 (9):200-211 1 published -
?/? g.156698_156699insTATC c.1966_1967insTATC Insertion 20_ex - - - frameshift RB1_01737 somatic ng_un_is_tu_168 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.156700del c.1968del deletion 20_ex - p.(Leu657*) - frameshift RB1_00234 germline E1037 bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.156700dupG c.1968dupG Duplication 20_ex - p.(Leu657Alafs*11) - frameshift RB1_01910 unknown Supp_Tab_Mt-85 - - nd DNA - - Price et al., 2013 1 published -
?/+ g.156700_156701del c.1968_1969del deletion 20_ex - p.Leu657Serfs*10 - frameshift RB1_01312 unknown R4 unilateral rb germline blood DNA - isolated Bamme et al. (2005) Genet Test. 3 (9):200-211 1 published -
?/? g.156701_156713delinsT c.1969_1981delinsT Other/Complex 20_ex - p.Leu657_Arg661delinsTrp - unknown RB1_01778 germline #13 bilateral rb germline blood DNA - isolated Seo et al., 2012 1 published -
?/+ g.156702dup c.1970dup insertion 20_ex - p.Ala658Serfs*10 - frameshift RB1_00323 unknown E2267 bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.156702dup c.1970dup insertion 20_ex - p.Ala658Serfs*10 - frameshift RB1_00323 unknown Supp_Tab_Mt-86 - - nd DNA - - Price et al., 2013 1 published -
?/? g.156702T>A c.1970T>A substitution 20_ex - p.Leu657Gln - missense RB1_00404 - 14 bilateral rb - retinoblastoma DNA - - Van Orsouw et al. (1996) Hum Mol Genet 5: 755 1 published -
?/? g.156702T>C c.1970T>C substitution 20_ex - p.Leu657Pro - missense RB1_01344 - not provided rb germline blood DNA - familial Scheffer et al. (2000) J Med Genet 37:E6 1 published -
?/+ g.156704del c.1972del deletion 20_ex - - - frameshift RB1_00907 - Fam841 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.156704G>A c.1972G>A Substitution 20_ex - p.Ala658Thr - unknown RB1_01580 unknown SNP13-47931836 - unknown nd DNA - - OMNI 1 - -
?/? g.156704_156718del c.1972_1986del deletion 20_ex - p.Ala658_Leu662del - in-frame RB1_00496 - 2 rb germline blood DNA - familial Jakubowska,et al. (2001) Hum Mutat 18(5): 459. 1 published -
?/? g.156704_156718del c.1972_1986del deletion 20_ex - p.Ala658_Leu662del - in-frame RB1_00496 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.156705_1567012del c.1973_1980del deletion 20_ex - - - frameshift RB1_01233 - not provided bilateral rb germline blood DNA - isolated Bia et al. (1995) Oncogene 11:977 1 published -
?/+ g.156705del c.1974del deletion 20_ex - p.Tyr659Ilefs*4 - frameshift RB1_00677 unknown Fam531 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.156708A>T c.1976A>T Substitution 20_ex - p.Tyr659Phe - unknown RB1_01581 somatic TCGA-06-0184 other cancer somatic nd DNA - - COSMIC - COSM35346 1 published -
?/? g.156708_156711del c.1976_1979del Deletion 20_ex - p.(Tyr659Serfs*3) - frameshift RB1_02078 germline P_20140723_394 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
+/+ g.156711_156713dup c.1979_1981dup Duplication 20_ex - p.(Leu660dup) - in-frame RB1_01862 germline E6149 bilateral rb germline blood DNA unknown isolated Lohmann, Germany:Essen 1 unpublished -
?/? g.156712_156715delCCG c.1980_1983delCCG Deletion 20_ex - p.Arg661X - nonsense RB1_01565 somatic LU-135 other cancer somatic nd DNA - - COSMIC - COSM869 1 published -
?/? g.156713C>A c.1981C>A substitution 20_ex - variant - variant RB1_01057 - not provided no cancer - nd DNA - - Blanquet et al., 1993 1 published -
?/? 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.156713_156716del c.1981_1984del deletion 20_ex - p.(Arg661*) - frameshift RB1_00148 unknown Lu135 other tumor - SCLC cell line DNA - - Kashii et al., 1994 1 published -
?/+ g.156713_156716del c.1981_1984del deletion 20_ex - p.(Arg661*) - frameshift RB1_00148 unknown Lu-135 cl other tumor somatic SCLC DNA - - Mori et al., 1990 1 published -
?/? g.156713_156716del c.1981_1984del deletion 20_ex - p.(Arg661*) - frameshift RB1_00148 somatic LU-135 other cancer somatic nd DNA - - COSMIC - COSM18094 1 published -
?/? 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.156717T>C c.1985T>C substitution 20_ex - p.Leu662Pro - missense RB1_00149 - E533 bilateral rb germline inherited blood DNA - familial Yilmaz et al., 1998 1 published -
?/? g.156717T>C c.1985T>C substitution 20_ex - p.Leu662Pro - missense RB1_00149 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/? g.156717T>C c.1985T>C substitution 20_ex - p.Leu662Pro - missense RB1_00149 - Fam355 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
2601 - 2700
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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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