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LOVD - Variant listings for RB1

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?/+ g.162038del c.2253del deletion 22_ex - p.Ile752Leufs*2 - frameshift RB1_00555 unknown not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.162046T>G c.2261T>G Substitution 22_ex - p.Val754Gly - unknown RB1_01814 somatic S82935 other cancer somatic tumor DNA - - COSMIC - COSM916 1 published -
?/? g.162046T>G c.2261T>G Substitution 22_ex - p.Val754Gly - unknown RB1_01814 somatic S83127 other cancer somatic tumor DNA - - COSMIC - COSM916 1 published -
?/? g.162048T>A c.2263T>A substitution 22_ex - p.Phe755Ile - missense RB1_00348 somatic E2473 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.162048T>G c.2263T>G substitution 22_ex - p.Phe755Val - missense RB1_00949 - Fam583 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.162048T>G c.2263T>G substitution 22_ex - p.Phe755Val - missense RB1_00949 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.162049ins11 c.2264_2265ins11 insertion 22_ex - - - - RB1_00853 - Fam852 unilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.162049_162051del c.2264_2266del deletion 22_ex - p.Ser751del - in-frame RB1_00169 - G387 bilateral rb germline blood DNA - isolated Lohmann et al., 1994 1 published -
+/? g.162035 c.2266delT Deletion 22 - p.S755Lfs*3 - frameshift RB1_02117 germline 687 bilateral rb germline blood DNA unknown isolated Argentina:Buenos Aires 1 published -
?/? g.162053T>A c.2268T>A Substitution 22_ex - p.Tyr756X - nonsense RB1_01515 somatic NCI-H2081 other cancer somatic nd DNA - - COSMIC - COSM13139 1 published -
+/+ - c.2268T>A Substitution 22_ex - p.Tyr756* - nonsense RB1_02004 germline fam-no_19992411 retinoblastoma germline blood DNA unknown familial Dommering et al. 2014, Germany:Essen 1 published Reported in lung carcinoma cell line Cosmic database (COSM13139)
?/? g.162057T>C c.2272T>C substitution 22_ex - p.Ser758Pro - - RB1_01241 - 0473 unilateral rb germline blood DNA - - Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.162058C>A c.2273C>A substitution 22_ex - p.Ser758X - nonsense RB1_00338 - E1976 bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.162068delG c.2283del Substitution 22_ex - p.Met761Ilefs*4 - frameshift RB1_01799 somatic NCI-H1304 other cancer somatic tumor DNA - unknown COSMIC - COSM22919 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.162073_16074del c.2288_2289del deletion 22_ex - p.Arg763Thrfs*31 - frameshift RB1_00252 unknown not provided bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.162073_16074del c.2288_2289del deletion 22_ex - p.Arg763Thrfs*31 - frameshift RB1_00252 unknown not provided - germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.162078A>T c.2293A>T Substitution 22_ex - p.Lys765X - nonsense RB1_01656 germline bilateral_445 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.162081del c.2296del deletion 22_ex - p.Thr766Glnfs*44 - frameshift RB1_01237 unknown F5151 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.162081del c.2296del deletion 22_ex - p.Thr766Glnfs*44 - frameshift RB1_01237 unknown F8; pt# 14 bilateral retinoma germline blood DNA - familial - 1 published -
?/+ g.162081del c.2296del deletion 22_ex - p.Thr766Glnfs*44 - frameshift RB1_01237 unknown F8; pt# 15 bilateral retinoma germline blood DNA - familial - 1 published -
?/? g.162078del c.2296del Deletion 22_ex - p.Thr766Glnfs*44 - unknown RB1_01500 germline F8; pt# 14 other cancer germline blood DNA - familial Abouzeid et al. (2009), Mol Vis.;15:771-7 1 - bilateral retinoma
?/? g.162078del c.2296del Deletion 22_ex - p.Thr766Glnfs*44 - unknown RB1_01500 germline F8; pt# 15 other cancer germline blood DNA - familial Abouzeid et al. (2009), Mol Vis.;15:771-7 1 published bilateral retinoma
?/+ g.162091T>A c.2306T>A substitution 22_ex - p.Leu769X - nonsense RB1_00682 - Fam558 bilateral rb germline nd DNA - - Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.162092_162093delinsTT c.2307_2308delinsTT complex 22_ex - p.Leu769PhefsX1 - nonsense RB1_00170 - Lu-24 cl other tumor somatic SCLC cell line DNA - - Mori et al., 1990 1 published -
+/+ g.162092_162093delinsTTTT c.2307_2308delinsTTTT Insertion/Deletion 22_ex - p.Leu769Phefs*42 - frameshift RB1_01386 unknown E5322 unilateral rb germline blood DNA LOH isolated Lohmann, Germany:Essen 1 unpublished -
?/+ 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.162095delG c.2310delG Deletion 22_ex - - - frameshift RB1_01652 germline bilateral_440 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.162096dup c.2311dup insertion 22_ex - p.Tyr771Leufs*24 - frameshift RB1_00171 unknown RB264 unilateral rb somatic retinoblastoma DNA hemi/homozygous - Shimizu et al., 1994 1 published -
?/? g.162095_162096insT c.2311dup Insertion 22_ex - p.Tyr771Leufs*24 - missense RB1_01848 somatic S82885 retinoblastoma somatic tumor DNA - - COSMIC - COSM912 1 published -
?/? g.162097delA c.2312delA Deletion 22_ex - - - frameshift RB1_01654 germline bilateral_442 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
+/? - c.2313del Deletion 22_ex - p.Tyr771* - frameshift RB1_01994 germline fam-no_20022892 retinoblastoma somatic blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published -
?/? g.162102delT c.2317delT Deletion 22_ex - p.(Ser773Profs*37) - frameshift RB1_01902 unknown Supp_Tab_Mt-97 - - nd DNA - - Price et al., 2013 1 published -
?/+ g.162112T>C c.2325T>C Substitution in_22 - - - splice RB1_01956 germline E4043 retinoblastoma germline blood and tumor DNA heterozygous unknown Lohmann, Germany:Essen 1 unpublished -
?/? g.162111del c.2325+1del deletion 22_in altered splicing - - splice RB1_00279 germline E1886 bilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.162111G>A c.2325+1G>A substitution 22_in skip exon 21 skip exon 21 - splice RB1_00330 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.162111G>A c.2325+1G>A substitution 22_in skip exon 21 skip exon 21 - splice RB1_00330 - not provided bilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.162111G>T c.2325+1G>T Substitution 22_in splice - - splice RB1_01655 germline bilateral_443 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.162112del c.2325+2del deletion 22_in altered splicing - - splice RB1_00587 - 22b bilateral rb germline blood DNA - familial - 1 published -
?/? g.162112del c.2325+2del deletion 22_in altered splicing - - splice RB1_00587 - 22b rb germline blood DNA - familial JL Gala - Brussels 1 unpublished -
?/? g.162112T>G c.2325+2T>G Substitution 22_in splice_donor - - splice RB1_01903 unknown Supp_Tab_Mt-98 - - nd DNA - - Price et al., 2013 1 published -
?/? g.162115G>A c.2325+5G>A Substitution 22_in splice_donor - - splice RB1_01904 unknown Supp_Tab_Mt-99 - - nd DNA - - Price et al., 2013 1 published -
?/? g.162115G>C c.2325+5G>C substitution 22_in altered splicing - - splice RB1_01367 - RB-40 bilateral rb germline blood DNA - familial Parsam et al. (2011) J Biosci. 2011 Jun;36(2):281-7. 1 published -
?/? g.162115G>T c.2325+5G>T substitution 22_in altered splicing - - splice RB1_00914 - Fam870 unilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.162124A>G c.2326-79A>G pol Substitution 22_in - - - unknown RB1_01771 somatic ng_un_is_tu_477 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.162159A>G c.2326-45A>G Substitution 22_in - - - unknown RB1_01783 unknown ge_is_notu_25 no cancer unknown nd DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.162177T>C c.2326-27T>C Substitution 22_in - - - unknown RB1_01786 somatic ge_is_notu_43 no cancer germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.162190T>C c.2326-14T>C substitution 22_in altered splicing - - splice RB1_00590 - not provided unilateral rb germline retinoblastoma DNA - not reported Leone et al. (2003) J Hum Genet 48(12): 639-41. 1 published -
?/? g.162192T>C c.2326-12T>C Substitution 22_in altered splicing - - splice RB1_01663 germline bilateral_478 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.162196T>A c.2326-8T>A substitution 22_in altered splicing - - splice RB1_01267 - CU031 bilateral rb germline blood DNA - familial Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.162201T>G c.2326-3T>G substitution 22_in altered splicing - - splice RB1_00710 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/? g.162202A>C c.2326-2A>C Substitution 22_in altered splicing - - unknown RB1_01488 somatic S85581 retinoblastoma somatic tumor DNA - - COSM1026, Kiran et al. Hum Mutat. 2003;22;339 1 published -
?/? g.162202A>G c.2326-2A>G substitution 22_in altered splicing - - splice RB1_01268 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.162203del c.2326-1del deletion 22_in altered splicing - - splice RB1_00749 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.162203del c.2326-1del deletion 22_in altered splicing - - splice RB1_00749 - F2755 bilateral rb germline blood DNA - familial lp Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.162203G>A c.2326-1G>A substitution 22_in altered splicing - - splice RB1_00924 - Fam729 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.162203G>T c.2326-1G>T substitution 22_in altered splicing - - splice RB1_00337 - Fam454 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.162203G>T c.2326-1G>T substitution 22_in altered splicing - - splice RB1_00337 - Rb35 rb germline blood DNA - - Tsai et al. (2004) Arch Ophthalmol 122:239 1 published -
?/? g.162203G>T c.2326-1G>T substitution 22_in altered splicing - - splice RB1_00337 - E2096T unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.162159A>C c.2326+49A>C substitution 22_in - variant - variant RB1_01068 - not provided no cancer - nd DNA - - Lohmann - Essen 1 published -
?/? g.162224delA c.2346del Substitution 22_ex - p.Pro783LeufsX27 - unknown RB1_01797 somatic S83098 other cancer somatic tumor DNA - unknown COSMIC - COSM921 1 published -
?/+ g.162205_162207delinsTT c.2327_2329delinsTT complex 23_ex - p.Pro776Leufs*34 - frameshift RB1_00304 somatic E1861 unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.162207_162208del c.2329_2330del Deletion 23_ex - p.(Pro777Tyrfs*17) - frameshift RB1_02091 germline P_20140723_451 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/+ g.162208del c.2330del deletion 23_ex - p.Pro777Leufs*33 - frameshift RB1_00172 unknown G834 bilateral rb germline blood DNA - isolated Lohmann et al., 1994 1 published -
?/+ g.162208del c.2330del deletion 23_ex - p.Pro777Leufs*33 - frameshift RB1_00172 unknown Lu-141 other tumor somatic SCLC cell line DNA - - Mori et al., 1990 1 published -
?/+ g.162208del c.2330del deletion 23_ex - p.Pro777Leufs*33 - frameshift RB1_00172 unknown Fam876 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.162208del c.2330del deletion 23_ex - p.Pro777Leufs*33 - frameshift RB1_00172 unknown CO451 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.162208del c.2330del deletion 23_ex - p.Pro777Leufs*33 - frameshift RB1_00172 unknown 15 bilateral rb - retinoblastoma DNA - - Van Orsouw et al. (1996) Hum Mol Genet 5: 755 1 published -
?/? g.162208dupC c.2330dupC Duplication 23_ex - - - frameshift RB1_01760 somatic ng_un_is_tu_455 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.162208_162209del c.2330_2331del Deletion 23_ex - - - frameshift RB1_01795 somatic ge_is_notu_49 no cancer somatic blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.162209del c.2331del deletion 23_ex - p.Thr778Profs*32 - frameshift RB1_01286 unknown RB232 bilateral rb germline blood DNA not reported - Blanquet et al., 1995 1 published -
?/? g.162214T>A c.2336T>A Substitution 23_ex - p.(Leu779*) - nonsense RB1_01947 unknown Supp_Tab_Mt-100 - - nd DNA - - Price et al., 2013 1 published -
?/? g.162208_162209insT c.2336_2337insT Insertion 23_ex - - - frameshift RB1_01764 somatic ng_un_is_tu_451 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.162217C>G c.2339C>G Substitution 23_ex - p.Ser780X - unknown RB1_01761 somatic ng_un_is_tu_454 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.162217C>G c.2339C>G Substitution 23_ex - p.Ser780X - nonsense RB1_01761 somatic Supp_Tab_Mt-101 - - nd DNA - - Price et al., 2013 1 published -
?/? g.162220delC c.2342delC Deletion 23_ex - - - frameshift RB1_01759 somatic ng_un_is_tu_449 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.162225_162231del c.2347_2353del deletion 23_ex - p.Pro783Phefs*25 - frameshift RB1_00173 unknown RB40 bilateral rb germline blood DNA not reported - Blanquet et al., 1995 1 published -
?/+ 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 -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - G449 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 - RB-53 bilateral rb germline blood DNA - - Yandell et al., 1989 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - E16 bilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - E514 bilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - Pedigree 327 unilateral rb somatic retinoblastoma DNA heterozygous - Dryja et al. (1993) Am J Hum Genet 52:1122-8 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - Fam547 bilateral rb germline nd DNA - - Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - Fam182 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - Fam352 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - Fam390 bilateral rb germline nd DNA - not reported Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - JA543 bilateral rb germline blood DNA - familial Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
3001 - 3100
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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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