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LOVD - Variant listings for RB1

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?/? g.73868A>G c.1331A>G substitution 13_ex altered splicing - - splice RB1_00280 - not provided - - nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.73869G>A c.1332G>A substitution 13_ex RT-PCR del:E13 - splice RB1_00095 - E518 unilateral rb germline blood DNA - isolated Lohmann et al., 1997 1 published -
?/? g.73869G>A c.1332G>A substitution 13_ex RT-PCR del:E13 - splice RB1_00095 - RB163 bilateral rb germline blood DNA - isolated Scheffer et al. (2000) J Med Genet 37:E6 1 published -
?/? g.73869G>A c.1332G>A substitution 13_ex RT-PCR del:E13 - splice RB1_00095 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.73869G>C c.1332G>C substitution 13_ex RT-PCR del:E13 - splice RB1_00307 - E1168 bilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.73869G>C c.1332G>C substitution 13_ex RT-PCR del:E13 - splice RB1_00307 - E11 bilateral rb germline blood DNA - - Zhang et al. (2008) Hum Mutat 29:475 1 published -
+/? g.73869G>C c.1332G>C substitution 13_ex RT-PCR p.(Gln444His) - missense RB1_00307 unknown Tab_1_33 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/? g.73869G>T c.1332G>T Substitution 13_ex - p.Gln444His - missense RB1_01571 somatic S83854 other cancer somatic nd DNA - - COSMIC - COSM932, Chibon et al., 2000 1 published possibly damaging / deleterious
?/? g.73870del c.1332+1del deletion 13_in altered splicing - - splice RB1_00299 - E1103 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.73870del c.1332+1del
    + c.1735C>T		 deletion 13_in altered splicing - - splice RB1_00299 germline E1103 bilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 unpublished new germline mutation
?/? g.73870G>A c.1332+1G>A substitution 13_in skip exon 13 skip exon 13 - splice RB1_00202 - G1 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/? g.73870G>A c.1332+1G>A substitution 13_in skip exon 13 skip exon 13 - splice RB1_00202 - Yu45 bilateral rb germline retinoblastoma DNA heterozygous - Choy et al. (2002) Hum Mutat 20(5): 408. 1 published -
?/? g.73870G>A c.1332+1G>A substitution 13_in skip exon 13 skip exon 13 - splice RB1_00202 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.73870G>A c.1332+1G>A substitution 13_in skip exon 13 skip exon 13 - splice RB1_00202 - not provided - germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/? g.73870G>A c.1332+1G>A substitution 13_in skip exon 13 skip exon 13 - splice RB1_00202 - not provided - germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.73870G>A c.1332+1G>A substitution 13_in skip exon 13 skip exon 13 - splice RB1_00202 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.73870G>A c.1332+1G>A substitution 13_in skip exon 13 skip exon 13 - splice RB1_00202 - not provided bilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.73870G>A c.1332+1G>A substitution 13_in skip exon 13 skip exon 13 - splice RB1_00202 - CU016 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.73870G>A c.1332+1G>A
    + c.2359C>T		 substitution 13_in skip exon 13 skip exon 13 - splice RB1_00202 somatic E2550 unilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - new germline mutation
?/? g.73870G>T c.1332+1G>T substitution 13_in altered splicing - - splice RB1_00204 - RB229 bilateral rb germline blood DNA - isolated Kato et al., 1994 1 published -
?/? g.73871T>C c.1332+2T>C substitution 13_in altered splicing - - splice RB1_00203 - E516 bilateral rb germline inherited blood DNA - familial Yilmaz et al., 1998 1 published -
?/? g.73871T>C c.1332+2T>C substitution 13_in altered splicing - - splice RB1_00203 - not provided bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.73871T>C c.1332+2T>C substitution 13_in altered splicing - - splice RB1_00203 - 11462 bilateral rb germline blood DNA - isolated Chenet al. (2003)ClinExperimentOphthalmol31:392 1 published -
?/? g.73871T>G c.1332+2T>G Substitution 13_in altered splicing - - unknown RB1_01483 somatic DMS-273 other cancer somatic tumor DNA - - COSMIC - COSM13736 1 published -
?/? g.73872A>C c.1332+3A>C Substitution 13_in - - - unknown RB1_01622 germline bilateral_219 bilateral rb germline blood DNA - familial not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.73937T>A c.1332+68T>A substitution 13_in - variant - variant RB1_01041 - not provided no cancer germline blood DNA - - dbSNP 1 published originally published: Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409
?/? g.76359insA c.1333-71_1333-70insA insertion 13_in - variant - variant RB1_01107 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.76360insA c.1333-70_1333-69insA insertion 13_in - variant - variant RB1_01108 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.76407-76417del11 c.1333-13_1333-23del11 Deletion 13_in splice_acceptor del - - splice RB1_01887 unknown Supp_Tab_Mt-58 - - nd DNA - - Price et al., 2013 1 published -
?/? g.76427delCAGinsTT c.1333-3delCAGinsTT Other/Complex 13_in - - - nonsense RB1_01733 somatic ng_un_is_tu_318 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.76428A>G c.1333-2A>G substitution 13_in altered splicing - - splice RB1_00227 - not provided bilateral rb - nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.76428A>G c.1333-2A>G
    + c.2359C>T		 substitution 13_in altered splicing - - splice RB1_00227 germline E5516 bilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - -
?/? g.76428A>G c.1333-2A>G substitution 13_in altered splicing - - splice RB1_00227 germline Fam456 retinoblastoma unknown blood DNA unknown unknown Richter et al. (2003) Am J Hum Genet 72(2): 253-69., Gallie:Toronto 1 published -
?/? g.76429G>A c.1333-1G>A substitution 13_in altered splicing - - splice RB1_00514 - HC1 unilateral rb germline retinoblastoma DNA isolated Braggio et al. (2004) J Clin Pathol 57(6): 585-90. 1 published -
?/+ g.76429_76439del c.1333-1_1342del deletion 13_in - - - frameshift RB1_00814 - Fam422 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76429_76439del c.1333-1_1342del deletion 13_in - - - frameshift RB1_00814 - T7 bilateral rb germline blood DNA - familial Zhang et al. (2008) Hum Mutat 29: 475 1 published -
?/? g.76360-76487del c.1333-1389del Deletion 14_ex r.1333-1389del exon skipping - in-frame RB1_01470 unknown RB-76 retinoblastoma unknown blood DNA unknown familial Parsam et al. (2011) J Biosci. 2011 Jun;36(2):281-7. 1 published Results in skipping of exon 14
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E467T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E557T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - G155 bilateral rb germline inherited blood DNA - familial Lohmann et al., 1996 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - G397 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - G417 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - G1092 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - G468 rb germline blood DNA - familial Lohmann et al., 1996 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - RB-74 bilateral rb germline blood DNA not reported - Yandell et al., 1989 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E8T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E690T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E857T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - HC27 bilateral rb germline retinoblastoma DNA - isolated Braggio et al. (2004) J Clin Pathol 57(6): 585-90. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - RB26 bilateral rb germline retinoblastoma DNA homozygous familial Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - RB34 bilateral rb germline retinoblastoma DNA homozygous familial Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam34 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam129 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam408 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam130 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam143 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam458 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam611 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Rb14 unilateral rb germline blood DNA - - Choy et al. (2002) Hum Mutat 20(5): 408. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - JA523 bilateral rb germline blood DNA - isolated Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Rb 200 rb germline blood DNA - - Tsai et al. (2004) Arch Ophthalmol 122:239 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E3576 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided bilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E2398 bilateral rb germline nd DNA heterozygous familial Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E1217 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E1223 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided bilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided - germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E5417 bilateral rb germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E2644 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E2685 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E364 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E3294 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - E3806 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided bilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided - somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam502 bilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam646 unilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam381 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam437 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam546 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam647 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam696 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam822 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam854 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam959 unilateral rb somatic retinoblastoma DNA - not reported not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam716 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam960 bilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam214 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - Fam914 unilateral rb somatic nd DNA - Isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 - 9b bilateral rb germline blood DNA - isolated - 1 published -
1501 - 1600
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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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