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LOVD - Variant listings for RB1

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?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided - germline nd DNA - - - 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - 86/97 bilateral rb germline blood DNA - isolated Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - CO345 bilateral rb germline blood DNA - familial Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - 12 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - SR10T bilateral rb germline retinoblastoma DNA - isolated Kontic et al. (2006) J Hum Genet 51: 909 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - SR02T unilateral rb somatic retinoblastoma DNA - isolated Kontic et al. (2006) J Hum Genet 51: 909 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - RB-54 bilateral rb germline blood DNA - isolated - 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - F5; pt# 10 bilateral retinoma germline blood DNA - familial - 1 published -
+/? g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - IRB16 bilateral rb germline Retinoblastoma Tumor DNA hemi/homozygous isolated Iran:Tehran 1 - -
+/? g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - IRB18 bilateral rb germline Retinoblastoma Tumor DNA hemi/homozygous isolated Iran:Tehran 1 - -
?/? g.76430C>T c.1333C>T
    + c.751C>T		 substitution 14_ex - p.Arg445X - nonsense RB1_00003 germline E579 bilateral rb germline tumor DNA heterozygous familial Lohmann - Essen, Germany:Essen 1 unpublished -
?/? g.76430C>T c.1333C>T
    + c.1735C>T		 substitution 14_ex - p.Arg445X - nonsense RB1_00003 germline E2150 bilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - new germline mutation
?/? g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 somatic Patient 2 unilateral rb somatic tumor DNA - - Kumaramanickavel et al., (2003), J Genet.82(1-2):39-44. 1 published -
?/? g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 unknown not provided - - nd DNA - - dbSNP 1 - -
?/? g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 germline #8 bilateral rb germline blood DNA - isolated Seo et al., 2012 1 published -
?/? g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 unknown Tab_1_8 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/? g.76432A>C c.1335A>C substitution 14_ex - - - unclear RB1_00813 - Fam702 bilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
+/? g.76434insTA c.1337insTA Insertion 14 - - - frameshift RB1_02108 germline VNKVM0006 unilateral rb germline blood DNA unknown unknown Viet Nam:Hanoi 1 unpublished -
?/+ g.76435C>A c.1338C>A substitution 14_ex - p.Tyr446X - nonsense RB1_00305 somatic E1861 unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.76435C>G c.1338C>G Substitution 14_ex - p.Tyr446X - nonsense RB1_01782 somatic ge_is_notu_22 no cancer mosaicism blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.76435C>G c.1338C>G Substitution 14_ex - p.Tyr446X - nonsense RB1_01782 somatic Supp_Tab_Mt-59 - - nd DNA - - Price et al., 2013 1 published -
?/? g.76436A>C c.1339A>C substitution 14_ex - p.Lys447Gln - missense RB1_00239 - RB-142 unilateral rb germline blood DNA - isolated Mateu et al., 1997 1 published -
?/? g.76436A>T c.1339A>T substitution 14_ex - p.Lys447X - - RB1_01335 - fRB24 unilateral rb germline retinoblastoma DNA - isolated Najera et al. (2001) Med Clin (Barc) 116: 365 1 published -
?/? g.76438delA c.1341delA Deletion 14_ex - - - missense RB1_01728 somatic ng_un_is_tu_296 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.76439del c.1342del deletion 14_ex - p.(Gly449Glufs*8) - frameshift RB1_00226 somatic E722 unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76441del c.1344del deletion 14_ex - - - frameshift RB1_00431 unknown E625 bilateral rb - nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.76442G>A c.1345G>A substitution 14_ex - p.Gly449Arg - missense RB1_01177 - F5054 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.76442G>A c.1345G>A substitution 14_ex - p.Gly449Arg - missense RB1_01177 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/+ g.76443del c.1346del deletion 14_ex - p.Gly449Glufs*8 - frameshift RB1_00288 germline Fam638 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76443del c.1346del deletion 14_ex - p.Gly449Glufs*8 - frameshift RB1_00288 germline E229 bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.76443del c.1346del deletion 14_ex - p.Gly449Glufs*8 - frameshift RB1_00288 germline Fam916 bilateral rb germline nd DNA - possibly familial not reported, BL Gallie - Toronto 1 unpublished -
?/? g.76443del c.1346del deletion 14_ex - p.Gly449Glufs*8 - frameshift RB1_00288 somatic Br149X other cancer somatic nd DNA - - COSMIC - COSM39580, Parsons et al., 2008 1 published -
?/? g.76443G>A c.1346G>A substitution 14_ex - p.Gly449Glu - missense RB1_00396 - Fam478 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.76443G>A c.1346G>A substitution 14_ex - p.Gly449Glu - missense RB1_00396 - CU013 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
+/? g.76443G>A c.1346G>A substitution 14_ex - p.Gly449Glu - missense RB1_00396 unknown Tab_1_31 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/? g.76443G>T c.1346G>T(G449V) Substitution 14_ex - p.Gly449Val - unknown RB1_01739 somatic ng_un_is_tu_367 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.76443_76444insG c.1346_1347insG Insertion 14_ex - - - frameshift RB1_01623 germline bilateral_156 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.76444_76445del c.1347_1348del Deletion 14_ex - p.(Val450Serfs*12) - frameshift RB1_02065 germline P_20140723_236 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/+ g.76453del c.1356del deletion 14_ex - p.Leu452Phefs*5 - frameshift RB1_00501 unknown not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.76453_g.76454insG c.1356_1357insG Insertion 14_ex - - - frameshift RB1_01730 somatic ng_un_is_tu_302 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.76459C>G c.1362C>G Substitution 14_ex - p.Tyr454X - nonsense RB1_01624 germline bilateral_263 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - FM55 other cancer somatic melanoma cell line DNA heterozygous - Bartkova et al., 1996 1 published melanoma
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - A.F. bilateral rb germline blood DNA not reported - Hogg et al., 1992 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - GOS159 unilateral rb somatic retinoblastoma DNA - - Hogg et al., 1993 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - G416 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - RB151 unilateral rb somatic retinoblastoma DNA hemi/homozygous - Shimizu et al., 1994 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - E587 bilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam409 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam425 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam428 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam649 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam909 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam703 unilateral rb somatic retinoblastoma DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - JA13 bilateral rb germline blood DNA - isolated Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Rb228 rb germline blood DNA - - Tsai et al. (2004) Arch Ophthalmol 122:239 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - E2196 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - not provided bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - not provided - somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - not provided unilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - E2139 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - E5015 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - E2596 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - not provided - germline nd DNA hemi/homozygous not reported Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - E430 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - E3126 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - E3858 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - E3915 - germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - not provided - germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - E3607 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - not provided bilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam677 unilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam213 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam387 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam528 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam600 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam602 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam674 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam712 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam809 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam75 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam794 unilateral rb somatic nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam868 unilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - Fam962 bilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - 10b bilateral rb germline blood DNA - isolated - 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - 1213 unilateral rb germline blood DNA - - Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - F5386 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - F5390 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - 13 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 - RB-45 bilateral rb germline blood DNA - isolated - 1 published -
+?/? g.76460C>T c.1363C>T Substitution 14_ex - p.R455X - nonsense RB1_00096 unknown 507 bilateral rb germline blood DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
?/? g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 germline RB37 bilateral rb germline blood DNA - - Abidi et al. (2011) Mol Vis.;17:3541-7 1 published -
?/? g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 somatic FM55M1 other cancer somatic nd DNA - - COSMIC - COSM895 1 - -
+/? g.76460C>T c.1363C>T Substitution 14_ex - - - nonsense RB1_00096 germline 507 bilateral rb germline leukocytes DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
?/? g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 germline RB45tunesia bilateral rb germline blood DNA - isolated - 1 unpublished -
?/? g.76460C>T c.1363C>T substitution 14_ex - p.Arg455X - nonsense RB1_00096 germline RB48tunesia bilateral rb germline blood DNA - isolated - 1 unpublished -
1601 - 1700
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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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