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LOVD - Variant listings for RB1

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?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - Fam650 unilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - Fam628 bilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - 13 bilateral rb - retinoblastoma DNA - - Van Orsouw et al. (1996) Hum Mol Genet 5: 755 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - F5088 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - F2573 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - 33 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - 34 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/? g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 - 22 361 bilateral rb unknown nd DNA unknown isolated Munier - Lausanne 1 - Mutation was not found in blood of parents and brother
?/? g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 unknown 22 361 bilateral rb - nd DNA - isolated Munier - Lausanne 1 - no mutation was found in parents and brother
?/? g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 germline RB41tunesia bilateral rb germline blood DNA - isolated - 1 unpublished -
?/? g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 germline #5 bilateral rb germline blood DNA - isolated Seo et al., 2012 1 published -
?/? g.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 germline #6 bilateral rb germline blood DNA - isolated Seo et al., 2012 1 published -
?/+ g.59699del c.767del deletion 08_ex - p.Gly256Valfs*8 - frameshift RB1_00064 unknown G394 bilateral rb germline blood DNA - isolated Lohmann et al., 1994 1 published -
?/+ g.59699dup c.767dup insertion 08_ex - p.Gln257Serfs*14 - frameshift RB1_00065 unknown E512 rb germline blood DNA - familial Yilmaz et al., 1998 1 published -
?/+ g.59701C>T c.769C>T substitution 08_ex - p.Gln257X - nonsense RB1_00979 - Fam20 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.59701C>T c.769C>T substitution 08_ex - p.Gln257X - nonsense RB1_00979 - Fam872 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.59701C>T c.769C>T substitution 08_ex - p.Gln257X - nonsense RB1_00979 - 0713 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.59703_59704insAG c.771_772insAG Insertion 08_ex - - - unknown RB1_01425 - RB-A retinoblastoma unknown nd DNA - familial - 1 - -
?/+ g.59704_59708del c.772_776del deletion 08_ex - p.Asn258Glufs*11 - frameshift RB1_00229 unknown Fam211 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.59704_59708del c.772_776del deletion 08_ex - p.Asn258Glufs*11 - frameshift RB1_00229 unknown Fam612 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.59704_59708del c.772_776del deletion 08_ex - p.Asn258Glufs*11 - frameshift RB1_00229 unknown not provided bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.59704_59708del c.772_776del deletion 08_ex - p.Asn258Glufs*11 - frameshift RB1_00433 unknown not provided - germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/+ g.59704_59708del c.772_776del deletion 08_ex - p.Asn258Glufs*11 - frameshift RB1_00229 unknown not provided - germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/+ g.59704_59708del c.772_776del deletion 08_ex - p.Asn258Glufs*11 - frameshift RB1_00229 unknown not provided - somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.59704_59708del c.772_776del deletion 08_ex - p.Asn258Glufs*11 - frameshift RB1_00229 unknown Fam692 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.59704_59708del c.772_776del deletion 08_ex - p.Asn258Glufs*11 - frameshift RB1_00229 unknown 32 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/? g.59701_59705del c.772_776del deletion 08_ex - p.Asn258Glufs*11 - unknown RB1_00229 unknown not provided rb germline blood DNA - - Zhang et al. (1997) Yan Ke Xue Bao 13: 5 1 published -
?/? g.59701_59705del c.772_776del deletion 08_ex - p.Asn258Glufs*11 - unknown RB1_00229 somatic S83194 other cancer somatic nd DNA - - COSMIC - COSM923, Henson et al, 1994 1 published -
+/+? g.59705del c.773del Deletion 08_ex - p.Asn258Thrfs*6 - frameshift RB1_01403 unknown Case 8 other cancer - tumor RNA unknown - Kubota et al. (1995) Prostate. 1995 Dec;27(6):314-20. 1 published prostate cancer
?/? g.59706_59712dup c.774_780dup Insertion 08_ex - p.(Ala261Glnfs*12) - frameshift RB1_02051 germline P_20140723_135 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/+ g.59707del c.775del deletion 08_ex - p.Arg259Glyfs*5 - frameshift RB1_00066 unknown G429 rb germline inherited blood DNA - familial Lohmann et al., 1994 1 published -
?/? g.59710_59711dup c.778_779dup insertion 08_ex - - - - RB1_00894 - Fam466 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.59718del c.786del deletion 08_ex - p.(Ile263*) - frameshift RB1_00297 germline E1257 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.59725A>T c.793A>T Substitution 08_ex Stop gained p.Lys265X - unknown RB1_01490 somatic NCI-H510A other cancer somatic tumor DNA - - COSMIC - COSM23823 1 published -
?/+ g.59725_59743del c.793_811del deletion 08_ex - p.(Lys265Glnfs*15) - frameshift RB1_00983 somatic E3623 unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.59726_50730dup c.794_798dup insertion 08_ex - p.Leu267Asnfs*3 - frameshift RB1_01354 unknown RB-6 bilateral rb germline blood DNA - - - 1 published -
?/+ g.59728C>T c.796C>T substitution 08_ex - p.Gln266X - nonsense RB1_00067 - G392 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.59728C>T c.796C>T substitution 08_ex - p.Gln266X - nonsense RB1_00067 - Fam309 bilateral rb germline blood DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.59728C>T c.796C>T substitution 08_ex - p.Gln266X - nonsense RB1_00067 - RB-12 bilateral rb germline blood DNA - isolated - 1 published -
?/+ g.59730_59731dup c.798_799dup insertion 08_ex - p.Leu267Hisfs*2 - frameshift RB1_01205 unknown CU037 bilateral rb germline blood DNA - familial Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.59731_59768del c.799_836del Deletion 08_ex - p.Leu267Argfs*3 - frameshift RB1_01532 somatic TCGA-02-0055 other cancer somatic nd DNA - - COSMIC - COSM35345 1 - -
?/? g.59734G>T c.802G>T Substitution 08_ex - p.Glu268X - nonsense RB1_01707 somatic ng_un_is_tu_182 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.59736ins8 c.804_805ins8 insertion 08_ex - - - - RB1_00878 - Fam598 unilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.59738_59763del c.806_831del deletion 08_ex - - - frameshift RB1_00879 - Fam797 bilateral rb germline nd DNA - - not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.59743dup c.811dup insertion 08_ex - p.Thr271Asnfs*5 - frameshift RB1_00981 germline E4034 bilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.59744_59745insC c.812_813insC Insertion 08_ex - - - frameshift RB1_01713 somatic ng_un_is_tu_223 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.59754del c.822del deletion 08_ex - p.Ile274Metfs*12 - unknown RB1_01218 unknown 1273 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
+/? g.59755G>T c.825G>T Substitution 8 - - - nonsense RB1_01540 germline 538 bilateral rb germline leukocytes DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
?/? g.59759_59778del20 c.827_846del20 Deletion 08_ex - p.(Leu277*) - nonsense RB1_01936 unknown Supp_Tab_Mt-35 - - nd DNA - - Price et al., 2013 1 published -
?/+ g.59763_59764del c.831_832del deletion 08_ex - p.(Cys278*) - frameshift RB1_00774 unknown not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.59764del c.832del Deletion 08_ex - p.(Cys278Valfs*8) - frameshift RB1_02057 germline P_20140723_131 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/+ g.59764dup c.832dup Insertion 8 - p.Cys278Leufs*2 - frameshift RB1_01422 unknown IRB2 unilateral rb somatic Retinoblastoma Tumor DNA heterozygous - Ahani et al.(2011) Cancer Genet.; 204(6):316-22, Iran:Tehran 1 published -
?/? g.59764dup c.832dup Insertion 8 - p.Cys278Leufs*2 - frameshift RB1_01422 unknown rs121908691 - - nd DNA - - dbSNP 1 - precious
?/? g.59765_59766delGT c.833_834delGT Deletion 08_ex - p.(Cys278*) - nonsense RB1_01937 unknown Supp_Tab_Mt-36 - - nd DNA - - Price et al., 2013 1 published -
?/+ g.59769_59783del c.837_851del deletion 08_ex - - - frameshift RB1_00891 - Fam383 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.59770G>T c.838G>T substitution 08_ex - p.Glu280X - nonsense RB1_00721 - not provided bilateral rb germline blood DNA - familial Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.59770G>T c.838G>T substitution 08_ex - p.Glu280X - nonsense RB1_00721 - E3803 - germline nd DNA heterozygous familial Lohmann - Essen 1 unpublished -
?/+ g.59776G>T c.844G>T substitution 08_ex - p.Glu282X - nonsense RB1_00272 somatic E1563 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
+/+ g.59780_59784del c.848_852del Deletion 08_ex - p.(Cys283Tyrfs*3) - frameshift RB1_01408 unknown E5461 bilateral rb germline Blood DNA unknown isolated Lohmann ? unpublished, Germany:Essen 1 unpublished -
?/? g.59780_59793del c.848_861del deletion 08_ex altered splicing - - splice RB1_00373 somatic E2384 bilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.59780_59798del c.848_861+5del deletion 08_ex altered splicing - - splice RB1_00479 somatic E2643 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.59784dup c.852dup insertion 08_ex - p.Ile285Tyrfs*3 - frameshift RB1_00346 germline E2278 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.59785delAinsCGG c.853delAinsCGG Other/Complex 08_ex - - - unknown RB1_01611 germline bilateral_114 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.59789A>G c.857A>G Substitution 08_ex - p.Asp286Gly Asp286Gly unknown RB1_01433 - nd retinoblastoma germline nd DNA - - - 1 - -
?/? g.59792del c.860del deletion 08_ex - - - - RB1_01356 - RB-17 bilateral rb germline blood DNA - - - 1 published -
?/? g.59793G>A c.861G>A Substitution 08_ex Splice p.(=) - splice RB1_01878 unknown Supp_Tab_Mt-37 - - nd DNA - - Price et al., 2013 1 published -
?/? g.59793G>C c.861G>C substitution 08_ex p.Glu287Asp/skip exon 8 p.Glu287Asp/skip exon 8 - missense-splice RB1_00540 - JA293 bilateral rb germline blood DNA - isolated Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/? g.59793G>C c.861G>C substitution 08_ex p.Glu287Asp/skip exon 8 p.Glu287Asp/skip exon 8 Glu287Asp/splice missense-splice RB1_00540 - 1113 bilateral rb - blood DNA - - - 1 - Blood: hetero G>C sub in last base of exon 8 causes splice score to decrease from 88 to 73.5 and is likely to lead to out-of-frame skipping of exon 8
+/? g.59793G>C c.861G>C substitution 08_ex skip exon 8 skip exon 8 - splice RB1_00540 germline RB4 bilateral rb germline blood DNA - isolated Malaysia:Kuala Lumpur 1 unpublished -
?/? g.59793G>T c.861G>T Substitution 08_ex Substitution p.(Glu287Asp) - splice RB1_01875 unknown Supp_Tab_Mt-38 - - nd DNA - - Price et al., 2013 1 published -
?/? g.59798ins92 c.861_862ins92 insertion 08_in altered splicing - - splice RB1_00569 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.59794G>A c.861+1G>A Substitution 08_in splice - - splice RB1_01677 somatic ge_uni_iso_tu15 unilateral rb mosaicism blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.59794G>T c.861+1G>T Substitution 08_in splice - - splice RB1_01609 germline bilateral_105 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.59795T>C c.861+2T>C substitution 08_in altered splicing - - splice RB1_00969 - Fam89 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.59808T>C c.861+15T>C substitution 08_in - variant - variant RB1_00194 - ESB (RB175) bilateral rb germline blood DNA not reported - Blanquet et al., 1993 1 published -
?/? g.59960A>G c.861+167A>G substitution 08_in - variant - variant RB1_01103 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.60621T>G c.861+828T>G substitution 08_in - splice new exon - splice new exon RB1_01159 - E16 bilateral rb germline blood DNA - - Zhang et al. (2008) Hum Mutat 29: 475 1 published -
?/? g.61670T>G c.862-60T>G substitution 08_in - variant - variant RB1_01026 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.61703A>C c.862-27A>C substitution 08_in - variant - variant RB1_01027 - not provided no cancer - nd DNA - - Blanquet et al., 1993 1 published -
?/? g.61703A>C c.862-27A>C substitution 08_in - variant - variant RB1_01027 - not provided no cancer germline blood DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/? g.61720T>C c.862-10T>C substitution 08_in altered splicing - - splice RB1_00412 - not provided - - nd DNA - - Blanquet et al., 1993 1 published -
?/? g.61720T>C c.862-10T>C substitution 08_in altered splicing - - splice RB1_00412 - not provided rb germline blood DNA - familial lp Lefevre et al. (2002) J Med Genet 39:E21 1 published -
?/? g.61720T>C c.862-10T>C substitution 08_in altered splicing - - splice RB1_00412 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.61720T>C c.862-10T>C substitution 08_in altered splicing - - splice RB1_00412 - F1939 unilateral rb germline blood DNA - familial lp Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.61720T>C c.862-10T>C substitution 08_in altered splicing - - splice RB1_00412 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.61720T>G c.862-10T>G substitution 08_in altered splicing - - in-frame RB1_00418 unknown E3021 unilateral rb - nd DNA - familial Lohmann - Essen 1 unpublished -
+/? - c.862-5T>G Substitution 08_in - - - splice RB1_01970 germline fam-no_19930506 retinoblastoma germline blood DNA unknown familial Dommering et al. 2014, Germany:Essen 1 published Incomplete penetrance in 2 families (DER: 0.5) In frame deletion exon 9
?/? - c.862-5T>G Substitution 08_in - - - splice RB1_01970 germline fam-no_20012296 retinoblastoma germline blood DNA unknown familial Dommering et al. 2014, Germany:Essen 1 published -
+/? - c.862-2del Deletion 08_in - - - splice RB1_01971 germline fam-no_20072285 retinoblastoma germline blood DNA unknown isolated Germany:Essen 1 published No RNA available Predicted: alters the acceptor splice site of intron 8, leading to a skip of exon 9
?/? g.61729G>A c.862-1G>A Substitution 08_in splice_acceptor - - splice RB1_01883 unknown Supp_Tab_Mt-39 - - nd DNA - - Price et al., 2013 1 published -
?/? g.45855T>G c.596T>G Substitution 9_ex stop gained p.Leu199* - nonsense RB1_02007 somatic #973/2013 bilateral rb mosaicism blood DNA unknown isolated Renieri- Siena 1 unpublished -
?/? g.61728A>G c.862-2A>G Substitution 09_in splice - - splice RB1_01717 somatic ng_un_is_tu_237 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g. 61729G>A c.862-1G>A Substitution 09_in Splice site - - unknown RB1_01574 germline RB3tunesia bilateral rb germline blood DNA - familial - 1 - -
?/? g. 61729G>C c.862-1G>C Substitution 09_in splice - - splice RB1_01680 somatic ge_uni_iso_tu20 unilateral rb mosaicism blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.61731T>C c.863T>C substitution 09_ex - p.Val288Ala - missense RB1_00881 - Fam89 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 unpublished -
?/? g.61731_61732del c.863_864del Deletion 09_ex - - - unknown RB1_01679 germline ge_uni_iso_tu18 unilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 - -
?/? g.61732insA c.864insA Insertion 09_ex - - - frameshift RB1_01792 somatic noge_uni_is_121 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished 2nd mut in tumor
?/? g.61733A>T c.865A>T Substitution 09_ex - p.(Lys289*) - nonsense RB1_01938 unknown Supp_Tab_Mt-40 - - nd DNA - - Price et al., 2013 1 published -
?/? g.61737del c.869del Deletion 09_ex - - - unknown RB1_01780 germline ge_is_notu_13 no cancer germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.61737del c.869del Deletion 09_ex - p.(Asn290Metfs*11) - frameshift RB1_01780 germline Supp_Tab_Mt-41 - - nd DNA - - Price et al., 2013 1 published -
801 - 900
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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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